##fileformat=VCFv4.0 ##CombineVariants="analysis_type=CombineVariants input_file=[] sample_metadata=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=[/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] excludeIntervals=null reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[soap.filtered.vcf, /home/radon01/depristo/work/oneOffProjects/1000GenomesProcessingPaper/wgs.v9/GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.optimized.cut.vcf] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=null downsampling_type=null downsample_to_fraction=null downsample_to_coverage=null useOriginalQualities=false validation_strictness=SILENT unsafe=null num_threads=1 interval_merging=ALL read_group_black_list=null logging_level=INFO log_to_file=null quiet_output_mode=false debug_mode=false help=false out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub genotypemergeoption=PRIORITIZE variantmergeoption=UNION rod_priority_list=soap,gatk printComplexMerges=false filteredAreUncalled=false minimalVCF=false setKey=set" ##FILTER= ##FILTER= ##FILTER= 0.04"> ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##GenomicAnnotator="analysis_type=GenomicAnnotator input_file=[] sample_metadata=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[soap_gatk.vcf, /humgen/gsa-hpprojects/GATK/data/Annotations/refseq/refGene-big-table-hg18.txt] rodToIntervalTrackName=variant BTI_merge_rule=UNION DBSNP=null downsampling_type=null downsample_to_fraction=null downsample_to_coverage=null useOriginalQualities=false validation_strictness=SILENT unsafe=null num_threads=1 interval_merging=ALL read_group_black_list=null logging_level=info log_to_file=null quiet_output_mode=false debug_mode=false help=false out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub vcfOutput=null sampleName=null select=[Ljava.lang.String;@638bd7f1 join=[Ljava.lang.String;@720e4245 oneToMany=false maxJoinTableSize=500000 ignoreFilteredSites=false" ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[/humgen/1kg/analysis/bamsForDataProcessingPapers/NA12878.WEx.cleaned.recal.bam] read_buffer_size=null read_filter=[] intervals=[/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] excludeIntervals=[chrM, chrY] reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[dbsnp,dbsnp,/humgen/gsa-scr1/GATK_Data/dbsnp_129_hg18.rod, interval,Intervals,/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=/humgen/gsa-scr1/GATK_Data/dbsnp_129_hg18.rod hapmap=null hapmap_chip=null out=null err=null outerr=null filterZeroMappingQualityReads=false downsampling_type=NONE downsample_to_fraction=null downsample_to_coverage=null useOriginalQualities=false validation_strictness=SILENT unsafe=null max_reads_at_locus=10000 num_threads=1 interval_merging=ALL read_group_black_list=null genotype_model=JOINT_ESTIMATE base_model=EMPIRICAL heterozygosity=7.8E-4 genotype=false output_all_callable_bases=false standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=10.0 trigger_min_confidence_threshold_for_calling=30.0 trigger_min_confidence_threshold_for_emitting=30.0 noSLOD=false assume_single_sample_reads=null platform=null min_base_quality_score=20 min_mapping_quality_score=20 max_mismatches_in_40bp_window=3 use_reads_with_bad_mates=false max_deletion_fraction=0.05 cap_base_quality_by_mapping_quality=false" ##VariantFiltration="analysis_type=VariantFiltration input_file=[] read_buffer_size=null read_filter=[] intervals=[/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] excludeIntervals=[chrM, chrY] reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[variant,VCF,wgs.v9/GA2.WEx.cleaned.ug.snpfiltered.vcf, mask,Bed,wgs.v9/GA2.WEx.cleaned.indels.10.mask, interval,Intervals,/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=null hapmap=null hapmap_chip=null out=wgs.v9/GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.vcf err=null outerr=null filterZeroMappingQualityReads=false downsampling_type=NONE downsample_to_fraction=null downsample_to_coverage=null useOriginalQualities=false validation_strictness=SILENT unsafe=null max_reads_at_locus=2147483647 num_threads=1 interval_merging=ALL read_group_black_list=null filterExpression=[] filterName=[] genotypeFilterExpression=[] genotypeFilterName=[] clusterSize=3 clusterWindowSize=0 maskName=Indel NO_HEADER=false" ##VariantsToVCF="analysis_type=VariantsToVCF input_file=[] sample_metadata=[] read_buffer_size=null phone_home=DEV read_filter=[] intervals=[/seq/references/HybSelOligos/whole_exome_agilent_designed_120/whole_exome_agilent_designed_120.targets.interval_list] excludeIntervals=null reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[calls.soapsnp] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=null downsampling_type=null downsample_to_fraction=null downsample_to_coverage=null useOriginalQualities=false validation_strictness=SILENT unsafe=null num_threads=1 interval_merging=ALL read_group_black_list=null logging_level=INFO log_to_file=null quiet_output_mode=false debug_mode=false help=false out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sample=null" ##reference=Homo_sapiens_assembly18.fasta ##source=VariantOptimizer #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 chr1 867694 . T C 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=81.73;QD=16.35;RankSumP=1.00000;SB=-49.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1027T>C;refseq.codonCoord=343;refseq.end=867694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1107;refseq.name=NM_152486;refseq.name2=SAMD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.W343R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-38;refseq.start=867694;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/1 chr1 871477 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=2.43617e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1856A>C;refseq.codonCoord=619;refseq.end=871477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1915;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y619S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=53;refseq.start=871477;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr1 871490 . G A 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=8.35;MQ=97.97;MQ0=1;OQ=2002.85;QD=23.02;RankSumP=1.00000;SB=-547.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1843C>T;refseq.codonCoord=615;refseq.end=871490;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1902;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L615L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=40;refseq.start=871490;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 873762 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=315;Dels=0.00;HRun=2;HaplotypeScore=15.11;MQ=91.05;MQ0=15;OQ=5231.78;QD=16.61;RankSumP=0.200390;SB=-1533.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1528A>C;refseq.codonCoord=510;refseq.end=873762;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1587;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.N510H;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-30;refseq.start=873762;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 877664 . A G 197.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=92.52;MQ0=4;OQ=3931.65;QD=37.44;RankSumP=1.00000;SB=-1152.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1182T>C;refseq.codonCoord=394;refseq.end=877664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1241;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T394T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=877664;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 878502 . T C 228.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=84.04;MQ0=5;OQ=5658.62;QD=38.23;RankSumP=1.00000;SB=-1972.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.918A>G;refseq.codonCoord=306;refseq.end=878502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=977;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E306E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=30;refseq.start=878502;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 878522 . T C 293.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=84.65;MQ0=4;OQ=4266.78;QD=38.44;RankSumP=1.00000;SB=-907.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.898A>G;refseq.codonCoord=300;refseq.end=878522;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_015658;refseq.name2=NOC2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I300V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=878522;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 887188 . G C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=5.20;MQ=98.78;MQ0=0;OQ=6699.32;QD=45.89;RankSumP=1.00000;SB=-2186.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.609G>C;refseq.codonCoord=203;refseq.end=887188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_198317;refseq.name2=KLHL17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A203A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-103;refseq.start=887188;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 890423 . A C 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1918A>C;refseq.codonCoord=640;refseq.end=890423;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2025;refseq.name=NM_198317;refseq.name2=KLHL17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T640P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=218;refseq.start=890423;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr1 898188 . A C 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.0113507;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1123A>C;refseq.codingCoordStr_2=c.1087A>C;refseq.codonCoord_1=375;refseq.codonCoord_2=363;refseq.end_1=898188;refseq.end_2=898188;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1158;refseq.mrnaCoord_2=1122;refseq.name2_1=PLEKHN1;refseq.name2_2=PLEKHN1;refseq.name_1=NM_001160184;refseq.name_2=NM_032129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T375P;refseq.proteinCoordStr_2=p.T363P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=898188;refseq.start_2=898188;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr1 899282 . C T 79.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=70.00;QD=17.50;RankSumP=0.500000;SB=-46.55;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1536C>T;refseq.codingCoordStr_2=c.1641C>T;refseq.codonCoord_1=512;refseq.codonCoord_2=547;refseq.end_1=899282;refseq.end_2=899282;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1571;refseq.mrnaCoord_2=1676;refseq.name2_1=PLEKHN1;refseq.name2_2=PLEKHN1;refseq.name_1=NM_001160184;refseq.name_2=NM_032129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D512D;refseq.proteinCoordStr_2=p.D547D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=899282;refseq.start_2=899282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr1 939471 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=98.11;MQ0=0;OQ=551.25;QD=11.25;RankSumP=0.559709;SB=-179.21;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.248G>A;refseq.codonCoord=83;refseq.end=939471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_005101;refseq.name2=ISG15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S83N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=245;refseq.start=939471;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 939517 . A G 158.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.07;MQ0=0;OQ=1471.70;QD=32.70;RankSumP=1.00000;SB=-444.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.294A>G;refseq.codonCoord=98;refseq.end=939517;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_005101;refseq.name2=ISG15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V98V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-266;refseq.start=939517;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 971794 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=97.02;MQ0=0;OQ=672.99;QD=8.63;RankSumP=0.0799027;SB=-261.89;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3066A>G;refseq.codonCoord=1022;refseq.end=971794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3116;refseq.name=NM_198576;refseq.name2=AGRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1022S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=155;refseq.start=971794;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 972857 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.91;MQ0=0;OQ=2022.81;QD=14.25;RankSumP=0.128650;SB=-782.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3558T>C;refseq.codonCoord=1186;refseq.end=972857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3608;refseq.name=NM_198576;refseq.name2=AGRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1186F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=42;refseq.start=972857;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr1 974165 . T C 28.08 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=95.26;MQ0=0;QD=1.56;RankSumP=0.0318358;SB=-0.97;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4161T>C;refseq.codonCoord=1387;refseq.end=974165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4211;refseq.name=NM_198576;refseq.name2=AGRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1387T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=56;refseq.start=974165;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 976748 . T G 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.546167;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5423T>G;refseq.codonCoord=1808;refseq.end=976748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5473;refseq.name=NM_198576;refseq.name2=AGRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1808G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=53;refseq.start=976748;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 980143 . C T 75.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.71;MQ0=0;OQ=129.22;QD=21.54;RankSumP=1.00000;SB=-44.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6057C>T;refseq.codonCoord=2019;refseq.end=980143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6107;refseq.name=NM_198576;refseq.name2=AGRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2019D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=77;refseq.start=980143;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 1/1 chr1 1105747 . C T 18.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=1.41;RankSumP=0.461538;SB=-30.49;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.528C>T;refseq.codingCoordStr_2=c.309C>T;refseq.codonCoord_1=176;refseq.codonCoord_2=103;refseq.end_1=1105747;refseq.end_2=1105747;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=679;refseq.mrnaCoord_2=486;refseq.name2_1=TTLL10;refseq.name2_2=TTLL10;refseq.name_1=NM_001130045;refseq.name_2=NM_153254;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S176S;refseq.proteinCoordStr_2=p.S103S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=1105747;refseq.start_2=1105747;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT 0/1 chr1 1105812 . A G 34.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;QD=4.34;RankSumP=0.542857;SB=-41.66;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.593A>G;refseq.codingCoordStr_2=c.374A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=125;refseq.end_1=1105812;refseq.end_2=1105812;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=744;refseq.mrnaCoord_2=551;refseq.name2_1=TTLL10;refseq.name2_2=TTLL10;refseq.name_1=NM_001130045;refseq.name_2=NM_153254;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K198R;refseq.proteinCoordStr_2=p.K125R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=1105812;refseq.start_2=1105812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=soap-filterIngatk GT 0/1 chr1 1148494 . A G 146.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=13.07;MQ=98.55;MQ0=0;OQ=9166.54;QD=33.09;RankSumP=1.00000;SB=-2683.31;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.570T>C;refseq.codingCoordStr_2=c.570T>C;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=1148494;refseq.end_2=1148494;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=899;refseq.mrnaCoord_2=899;refseq.name2_1=SDF4;refseq.name2_2=SDF4;refseq.name_1=NM_016176;refseq.name_2=NM_016547;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D190D;refseq.proteinCoordStr_2=p.D190D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=1148494;refseq.start_2=1148494;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr1 1169279 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=1.98460e-05;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.449T>G;refseq.codonCoord=150;refseq.end=1169279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_001014980;refseq.name2=FAM132A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V150G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=70;refseq.start=1169279;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 1234787 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=0.00108523;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.414T>G;refseq.codonCoord=138;refseq.end=1234787;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_153339;refseq.name2=PUSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C138W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-60;refseq.start=1234787;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 1237357 . T C 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.85;MQ0=0;OQ=433.16;QD=28.88;RankSumP=1.00000;SB=-122.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1641A>G;refseq.codonCoord=547;refseq.end=1237357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1699;refseq.name=NM_017871;refseq.name2=CPSF3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P547P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=34;refseq.start=1237357;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 1239050 . G A 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=3;HaplotypeScore=10.95;MQ=98.92;MQ0=0;OQ=15506.08;QD=42.25;RankSumP=1.00000;SB=-6976.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.882C>T;refseq.codonCoord=294;refseq.end=1239050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_017871;refseq.name2=CPSF3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.F294F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-76;refseq.start=1239050;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 1244704 . C G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=3;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=2745.50;QD=45.76;RankSumP=1.00000;SB=-934.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.264G>C;refseq.codonCoord=88;refseq.end=1244704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_017871;refseq.name2=CPSF3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G88G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=64;refseq.start=1244704;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 1267396 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=52.72;MQ0=15;OQ=251.83;QD=9.33;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.366A>G;refseq.codonCoord=122;refseq.end=1267396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_004421;refseq.name2=DVL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P122P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=1267396;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 1280139 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=78.50;MQ0=7;OQ=447.40;QD=11.47;RankSumP=0.477552;SB=-81.78;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.735G>C;refseq.codonCoord=245;refseq.end=1280139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_032348;refseq.name2=MXRA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V245V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-215;refseq.start=1280139;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 1413144 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=501;Dels=0.00;HRun=0;HaplotypeScore=177.01;MQ=27.85;MQ0=98;OQ=4836.61;QD=9.65;RankSumP=0.0240713;SB=-631.13;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1253G>A;refseq.codonCoord=418;refseq.end=1413144;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_031921;refseq.name2=ATAD3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R418Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-14;refseq.start=1413144;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 1/0 chr1 1415583 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1421A>C;refseq.codonCoord=474;refseq.end=1415583;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_031921;refseq.name2=ATAD3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D474A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=84;refseq.start=1415583;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 1469207 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.388A>C;refseq.codonCoord=130;refseq.end=1469207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_014188;refseq.name2=SSU72;refseq.positionType=CDS;refseq.proteinCoordStr=p.T130P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=24;refseq.start=1469207;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 1541790 . T C 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.68;MQ0=0;OQ=935.87;QD=24.63;RankSumP=1.00000;SB=-446.54;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_2=c.214T>C;refseq.codingCoordStr_3=c.214T>C;refseq.codingCoordStr_4=c.214T>C;refseq.codingCoordStr_5=c.-90T>C;refseq.codingCoordStr_6=c.214T>C;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=72;refseq.codonCoord_6=72;refseq.end_1=1541790;refseq.end_2=1541790;refseq.end_3=1541790;refseq.end_4=1541790;refseq.end_5=1541790;refseq.end_6=1541790;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=259;refseq.mrnaCoord_2=259;refseq.mrnaCoord_3=259;refseq.mrnaCoord_4=259;refseq.mrnaCoord_5=276;refseq.mrnaCoord_6=259;refseq.name2_1=MIB2;refseq.name2_2=MIB2;refseq.name2_3=MIB2;refseq.name2_4=MIB2;refseq.name2_5=MIB2;refseq.name2_6=MIB2;refseq.name_1=NR_033183;refseq.name_2=NM_001170686;refseq.name_3=NM_001170687;refseq.name_4=NM_001170688;refseq.name_5=NM_001170689;refseq.name_6=NM_080875;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr5;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.F72L;refseq.proteinCoordStr_3=p.F72L;refseq.proteinCoordStr_4=p.F72L;refseq.proteinCoordStr_6=p.F72L;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_6=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.referenceCodon_6=TTC;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.spliceDist_5=40;refseq.spliceDist_6=40;refseq.start_1=1541790;refseq.start_2=1541790;refseq.start_3=1541790;refseq.start_4=1541790;refseq.start_5=1541790;refseq.start_6=1541790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_6=CTC;set=Intersection GT 1/1 chr1 1548655 . T C 77.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=1226.82;QD=30.67;RankSumP=1.00000;SB=-574.39;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_4=c.305T>C;refseq.codingCoordStr_5=c.305T>C;refseq.codingCoordStr_6=c.305T>C;refseq.codonCoord_4=102;refseq.codonCoord_5=102;refseq.codonCoord_6=102;refseq.end_1=1548663;refseq.end_2=1548663;refseq.end_3=1548655;refseq.end_4=1548655;refseq.end_5=1548655;refseq.end_6=1548655;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=350;refseq.mrnaCoord_4=350;refseq.mrnaCoord_5=350;refseq.mrnaCoord_6=350;refseq.name2_1=MIB2;refseq.name2_2=MIB2;refseq.name2_3=MIB2;refseq.name2_4=MIB2;refseq.name2_5=MIB2;refseq.name2_6=MIB2;refseq.name_1=NM_001170687;refseq.name_2=NM_001170689;refseq.name_3=NR_033183;refseq.name_4=NM_001170686;refseq.name_5=NM_001170688;refseq.name_6=NM_080875;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.M102T;refseq.proteinCoordStr_5=p.M102T;refseq.proteinCoordStr_6=p.M102T;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceAA_6=Met;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.referenceCodon_6=ATG;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.spliceDist_6=24;refseq.start_1=1541868;refseq.start_2=1541868;refseq.start_3=1548655;refseq.start_4=1548655;refseq.start_5=1548655;refseq.start_6=1548655;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;refseq.variantCodon_6=ACG;set=Intersection GT 1/1 chr1 1656035 rs61777509 C T 21.24 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=3.81;MQ0=257;QD=0.08;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.686G>A;refseq.codonCoord=229;refseq.end=1656035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_182838;refseq.name2=SLC35E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R229H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-47;refseq.start=1656035;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:193,73:7:-7.51,-2.11,-18.34:54.04 chr1 1660274 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.405G>C;refseq.codonCoord=135;refseq.end=1660274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_182838;refseq.name2=SLC35E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R135R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-54;refseq.start=1660274;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr1 1660591 . G C 14.23 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=7.46;MQ0=237;QD=0.06;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.266C>G;refseq.codonCoord=89;refseq.end=1660591;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_182838;refseq.name2=SLC35E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T89R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-57;refseq.start=1660591;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:238,1:2:-5.29,-0.60,-4.55:39.45 chr1 1675900 . G T 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=2;HaplotypeScore=2.37;MQ=98.70;MQ0=0;OQ=4577.40;QD=37.83;RankSumP=1.00000;SB=-1439.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.786C>A;refseq.codonCoord=262;refseq.end=1675900;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_023018;refseq.name2=NADK;refseq.positionType=CDS;refseq.proteinCoordStr=p.N262K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-58;refseq.start=1675900;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 1746724 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.29A>G;refseq.codonCoord=10;refseq.end=1746724;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_002074;refseq.name2=GNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E10G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-29;refseq.start=1746724;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 1876879 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=2;HaplotypeScore=9.54;MQ=97.48;MQ0=0;OQ=15204.63;QD=41.20;RankSumP=1.00000;SB=-7137.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2287T>C;refseq.codonCoord=763;refseq.end=1876879;refseq.frame=0;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2443;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.*763Q;refseq.referenceAA=Stop;refseq.referenceCodon=TAG;refseq.spliceDist=271;refseq.start=1876879;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 1876952 . G C 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2214C>G;refseq.codonCoord=738;refseq.end=1876952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2370;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.G738G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=198;refseq.start=1876952;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/1 chr1 1876955 . C G 120.64 BadSOAPSNP;ESPStandard;Indel AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=90.00;MQ0=0;QD=3.66;RankSumP=0.0666667;SB=-3.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2211G>C;refseq.codonCoord=737;refseq.end=1876955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2367;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.A737A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=195;refseq.start=1876955;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 1876965 . G T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2201C>A;refseq.codonCoord=734;refseq.end=1876965;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2357;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.P734Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=185;refseq.start=1876965;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/1 chr1 1876967 . C G 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2199G>C;refseq.codonCoord=733;refseq.end=1876967;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2355;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.K733N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=183;refseq.start=1876967;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/1 chr1 1876970 . G T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=10;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2196C>A;refseq.codonCoord=732;refseq.end=1876970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2352;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.A732A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=180;refseq.start=1876970;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/1 chr1 1876972 . C G 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2194G>C;refseq.codonCoord=732;refseq.end=1876972;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2350;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.A732P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=178;refseq.start=1876972;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/1 chr1 1876973 . C T 43.58 ESPStandard;Indel;LowQual AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=97.85;MQ0=0;QD=1.36;SB=32.13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2193G>A;refseq.codonCoord=731;refseq.end=1876973;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2349;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q731Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=177;refseq.start=1876973;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:27,5:26:-15.47,-7.83,-86.63:76.42 chr1 1877105 . G A 360.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.18;MQ0=0;OQ=4470.76;QD=40.28;RankSumP=1.00000;SB=-2186.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2061C>T;refseq.codonCoord=687;refseq.end=1877105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2217;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.A687A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=45;refseq.start=1877105;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 1878053 . C A 428.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=3632.02;QD=38.64;RankSumP=1.00000;SB=-1456.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1882G>T;refseq.codonCoord=628;refseq.end=1878053;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2038;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.G628C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=31;refseq.start=1878053;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr1 1886300 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=5.22;MQ=98.26;MQ0=0;OQ=868.20;QD=11.89;RankSumP=0.330848;SB=-381.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1462C>T;refseq.codonCoord=488;refseq.end=1886300;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.L488L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=61;refseq.start=1886300;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 1887682 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1389C>A;refseq.codonCoord=463;refseq.end=1887682;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y463*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-13;refseq.start=1887682;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr1 1890092 . T C 139.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=6.36;MQ=97.63;MQ0=0;OQ=2198.36;QD=14.75;RankSumP=0.361408;SB=-690.24;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1087A>G;refseq.codonCoord=363;refseq.end=1890092;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1243;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.I363V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=41;refseq.start=1890092;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 1906750 . C T 228.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=98.76;MQ0=0;OQ=4459.86;QD=17.49;RankSumP=0.484359;SB=-1443.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.435G>A;refseq.codonCoord=145;refseq.end=1906750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_001080484;refseq.name2=KIAA1751;refseq.positionType=CDS;refseq.proteinCoordStr=p.L145L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=40;refseq.start=1906750;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr1 1946897 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=2.52;MQ=97.79;MQ0=0;OQ=1785.40;QD=28.80;RankSumP=1.00000;SB=-478.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.330T>C;refseq.codonCoord=110;refseq.end=1946897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_000815;refseq.name2=GABRD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G110G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=81;refseq.start=1946897;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 1980867 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.311G>C;refseq.codonCoord=104;refseq.end=1980867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_002744;refseq.name2=PRKCZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.G104A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-24;refseq.start=1980867;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 2056602 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=204;Dels=0.00;HRun=1;HaplotypeScore=6.21;MQ=98.42;MQ0=0;OQ=582.95;QD=2.86;RankSumP=0.00000;SB=269.90;SecondBestBaseQ=22;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.-174T>G;refseq.codingCoordStr_2=c.-174T>G;refseq.codingCoordStr_3=c.376T>G;refseq.codonCoord_3=126;refseq.end_1=2056602;refseq.end_2=2056602;refseq.end_3=2056602;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=222;refseq.mrnaCoord_3=537;refseq.name2_1=PRKCZ;refseq.name2_2=PRKCZ;refseq.name2_3=PRKCZ;refseq.name_1=NM_001033581;refseq.name_2=NM_001033582;refseq.name_3=NM_002744;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Y126D;refseq.referenceAA_3=Tyr;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=2056602;refseq.start_2=2056602;refseq.start_3=2056602;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAC;set=FilteredInAll GT 1/0 chr1 2150876 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.811A>C;refseq.codonCoord=271;refseq.end=2150876;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_003036;refseq.name2=SKI;refseq.positionType=CDS;refseq.proteinCoordStr=p.T271P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-159;refseq.start=2150876;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 2329933 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=97.45;MQ0=0;OQ=465.51;QD=12.58;RankSumP=0.640061;SB=-249.07;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.418G>C;refseq.codingCoordStr_2=c.418G>C;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=2329933;refseq.end_2=2329933;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=487;refseq.mrnaCoord_2=487;refseq.name2_1=PEX10;refseq.name2_2=PEX10;refseq.name_1=NM_002617;refseq.name_2=NM_153818;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G140R;refseq.proteinCoordStr_2=p.G140R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-183;refseq.spliceDist_2=-183;refseq.start_1=2329933;refseq.start_2=2329933;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr1 2330060 . T C 156.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.87;MQ0=0;OQ=1800.17;QD=15.79;RankSumP=0.484429;SB=-635.71;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.291A>G;refseq.codingCoordStr_2=c.291A>G;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=2330060;refseq.end_2=2330060;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=360;refseq.mrnaCoord_2=360;refseq.name2_1=PEX10;refseq.name2_2=PEX10;refseq.name_1=NM_002617;refseq.name_2=NM_153818;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T97T;refseq.proteinCoordStr_2=p.T97T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.start_1=2330060;refseq.start_2=2330060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr1 2434274 . G A 104.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=98.65;MQ0=0;OQ=748.76;QD=12.27;RankSumP=0.193878;SB=-372.84;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1640C>T;refseq.codonCoord=547;refseq.end=2434274;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1649;refseq.name=NM_018216;refseq.name2=PANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A547V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=65;refseq.start=2434274;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 2442429 . T C 129.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=10.77;MQ=98.68;MQ0=0;OQ=4577.08;QD=20.34;RankSumP=0.357412;SB=-1341.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.393A>G;refseq.codonCoord=131;refseq.end=2442429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_018216;refseq.name2=PANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K131K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-30;refseq.start=2442429;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 2480088 . C T 189.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=99.00;MQ0=0;OQ=2484.29;QD=15.24;RankSumP=0.412654;SB=-363.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.721G>A;refseq.codonCoord=241;refseq.end=2480088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_003820;refseq.name2=TNFRSF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V241I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=2480088;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 2486265 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.37;MQ0=0;OQ=632.80;QD=12.17;RankSumP=0.0554813;SB=-331.25;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.50A>G;refseq.codonCoord=17;refseq.end=2486265;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_003820;refseq.name2=TNFRSF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.K17R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-20;refseq.start=2486265;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 2508234 . C T 18.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.03;MQ0=0;QD=1.53;SB=-35.51;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.50C>T;refseq.codonCoord=17;refseq.end=2508234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_152371;refseq.name2=C1orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.A17V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-14;refseq.start=2508234;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:11:-8.42,-3.31,-33.55:51.12 chr1 2512902 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=483;Dels=0.00;HRun=2;HaplotypeScore=62.06;MQ=97.52;MQ0=0;OQ=76.19;QD=0.16;RankSumP=0.00000;SB=748.51;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2194G>C;refseq.codonCoord=732;refseq.end=2512902;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2408;refseq.name=NM_033467;refseq.name2=MMEL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A732P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=31;refseq.start=2512902;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 2928125 . C T 226.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.52;MQ0=0;OQ=1141.93;QD=18.72;RankSumP=0.666966;SB=-538.13;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=2928125;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_080431;refseq.name2=ACTRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H5H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=220;refseq.start=2928125;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 2928429 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=21.32;MQ=98.46;MQ0=0;OQ=5338.24;QD=19.20;RankSumP=0.0297766;SB=-1429.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.319C>T;refseq.codonCoord=107;refseq.end=2928429;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_080431;refseq.name2=ACTRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L107L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=524;refseq.start=2928429;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 2928557 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=10.63;MQ=98.41;MQ0=0;OQ=1832.32;QD=14.54;RankSumP=0.00761714;SB=-476.58;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.447T>G;refseq.codonCoord=149;refseq.end=2928557;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_080431;refseq.name2=ACTRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S149S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=652;refseq.start=2928557;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/0 chr1 2928784 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=41;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=98.33;MQ0=0;OQ=478.84;QD=11.68;RankSumP=0.113638;SB=-247.82;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.674T>G;refseq.codonCoord=225;refseq.end=2928784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_080431;refseq.name2=ACTRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L225W;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-544;refseq.start=2928784;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 3311983 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1097A>C;refseq.codingCoordStr_2=c.1097A>C;refseq.codonCoord_1=366;refseq.codonCoord_2=366;refseq.end_1=3311983;refseq.end_2=3311983;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1179;refseq.mrnaCoord_2=1179;refseq.name2_1=PRDM16;refseq.name2_2=PRDM16;refseq.name_1=NM_022114;refseq.name_2=NM_199454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H366P;refseq.proteinCoordStr_2=p.H366P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=3311983;refseq.start_2=3311983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 3311985 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1099G>C;refseq.codingCoordStr_2=c.1099G>C;refseq.codonCoord_1=367;refseq.codonCoord_2=367;refseq.end_1=3311985;refseq.end_2=3311985;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1181;refseq.mrnaCoord_2=1181;refseq.name2_1=PRDM16;refseq.name2_2=PRDM16;refseq.name_1=NM_022114;refseq.name_2=NM_199454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A367P;refseq.proteinCoordStr_2=p.A367P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=3311985;refseq.start_2=3311985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 3318218 . T C 336.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=2.59;MQ=98.23;MQ0=0;OQ=4028.92;QD=39.50;RankSumP=1.00000;SB=-1668.53;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1597T>C;refseq.codingCoordStr_2=c.1597T>C;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=3318218;refseq.end_2=3318218;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1679;refseq.mrnaCoord_2=1679;refseq.name2_1=PRDM16;refseq.name2_2=PRDM16;refseq.name_1=NM_022114;refseq.name_2=NM_199454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S533P;refseq.proteinCoordStr_2=p.S533P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=411;refseq.spliceDist_2=411;refseq.start_1=3318218;refseq.start_2=3318218;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr1 3318519 . C T 112.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=98.73;MQ0=0;OQ=1541.46;QD=13.76;RankSumP=0.111948;SB=-457.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1898C>T;refseq.codingCoordStr_2=c.1898C>T;refseq.codonCoord_1=633;refseq.codonCoord_2=633;refseq.end_1=3318519;refseq.end_2=3318519;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1980;refseq.mrnaCoord_2=1980;refseq.name2_1=PRDM16;refseq.name2_2=PRDM16;refseq.name_1=NM_022114;refseq.name_2=NM_199454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P633L;refseq.proteinCoordStr_2=p.P633L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-706;refseq.spliceDist_2=-706;refseq.start_1=3318519;refseq.start_2=3318519;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr1 3379587 . C T 221.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=98.89;MQ0=0;OQ=2483.15;QD=14.03;RankSumP=0.351299;SB=-1028.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1108C>T;refseq.codonCoord=370;refseq.end=3379587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1356;refseq.name=NM_014448;refseq.name2=ARHGEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H370Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-68;refseq.start=3379587;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr1 3384316 . T C 200.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=3.84;MQ=98.49;MQ0=0;OQ=5625.47;QD=36.29;RankSumP=1.00000;SB=-2309.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1491T>C;refseq.codonCoord=497;refseq.end=3384316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1739;refseq.name=NM_014448;refseq.name2=ARHGEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S497S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=18;refseq.start=3384316;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 3384899 . G A 282.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.82;MQ0=0;OQ=2348.39;QD=15.45;RankSumP=0.0478186;SB=-1070.95;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1677G>A;refseq.codonCoord=559;refseq.end=3384899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1925;refseq.name=NM_014448;refseq.name2=ARHGEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V559V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=52;refseq.start=3384899;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 3386922 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=3.35;MQ=98.48;MQ0=0;OQ=1293.20;QD=14.70;RankSumP=0.496366;SB=-528.76;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2041G>A;refseq.codonCoord=681;refseq.end=3386922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2289;refseq.name=NM_014448;refseq.name2=ARHGEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.E681K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=51;refseq.start=3386922;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 3400840 . T G 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.357143;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4084A>C;refseq.codonCoord=1362;refseq.end=3400840;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4311;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1362P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-46;refseq.start=3400840;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr1 3400842 . C G 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.345238;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4082G>C;refseq.codonCoord=1361;refseq.end=3400842;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4309;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1361A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-48;refseq.start=3400842;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr1 3400879 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=6.92980e-06;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4045T>C;refseq.codonCoord=1349;refseq.end=3400879;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4272;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1349P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=45;refseq.start=3400879;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 3411757 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.02;MQ0=0;OQ=160.14;QD=6.96;RankSumP=0.537934;SB=-70.34;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2063T>C;refseq.codonCoord=688;refseq.end=3411757;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2290;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L688P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=3411757;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr1 3414248 . G A 255.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=9.18;MQ=98.00;MQ0=0;OQ=5857.64;QD=20.55;RankSumP=0.0233239;SB=-2515.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1760C>T;refseq.codonCoord=587;refseq.end=3414248;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P587L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-30;refseq.start=3414248;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 3418020 . T G 128.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=95.74;MQ0=0;OQ=1355.12;QD=35.66;RankSumP=1.00000;SB=-512.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1068A>C;refseq.codonCoord=356;refseq.end=3418020;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T356T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-47;refseq.start=3418020;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 3418468 . G A 303.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.85;MQ0=0;OQ=4126.18;QD=32.49;RankSumP=1.00000;SB=-1877.39;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.938C>T;refseq.codonCoord=313;refseq.end=3418468;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1165;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A313V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-39;refseq.start=3418468;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 3486339 . T C 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.92;MQ0=0;OQ=782.61;QD=30.10;RankSumP=1.00000;SB=-77.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.391A>G;refseq.codonCoord=131;refseq.end=3486339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S131G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=15;refseq.start=3486339;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 3501794 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=42.06;MQ=92.72;MQ0=0;OQ=1213.32;QD=7.05;RankSumP=0.00905981;SB=-259.30;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.344T>C;refseq.codonCoord=115;refseq.end=3501794;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M115T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-33;refseq.start=3501794;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 0/1 chr1 3501842 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.296T>G;refseq.codonCoord=99;refseq.end=3501842;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_001409;refseq.name2=MEGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V99G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=30;refseq.start=3501842;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 3532172 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=189;Dels=0.00;HRun=2;HaplotypeScore=24.92;MQ=98.61;MQ0=0;OQ=137.14;QD=0.73;RankSumP=0.00000;SB=203.67;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.329T>G;refseq.codonCoord=110;refseq.end=3532172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_182752;refseq.name2=TPRG1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V110G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=36;refseq.start=3532172;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 3537996 . T C 138.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=10.36;MQ=96.87;MQ0=0;OQ=3523.46;QD=25.17;RankSumP=1.00000;SB=-1024.82;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1134A>G;refseq.codonCoord=378;refseq.end=3537996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_017818;refseq.name2=WDR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A378A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=86;refseq.start=3537996;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 3538692 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=2;HaplotypeScore=2.60;MQ=99.00;MQ0=0;OQ=2834.57;QD=19.41;RankSumP=0.270425;SB=-383.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.993C>G;refseq.codonCoord=331;refseq.end=3538692;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1101;refseq.name=NM_017818;refseq.name2=WDR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I331M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-56;refseq.start=3538692;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 3628534 . C T 200.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.33;MQ0=0;OQ=8064.29;QD=37.16;RankSumP=1.00000;SB=-3764.34;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.372C>T;refseq.codingCoordStr_2=c.372C>T;refseq.codingCoordStr_3=c.372C>T;refseq.codingCoordStr_4=c.519C>T;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.codonCoord_3=124;refseq.codonCoord_4=173;refseq.end_1=3628534;refseq.end_2=3628534;refseq.end_3=3628534;refseq.end_4=3628534;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=606;refseq.mrnaCoord_2=606;refseq.mrnaCoord_3=606;refseq.mrnaCoord_4=629;refseq.name2_1=TP73;refseq.name2_2=TP73;refseq.name2_3=TP73;refseq.name2_4=TP73;refseq.name_1=NM_001126240;refseq.name_2=NM_001126241;refseq.name_3=NM_001126242;refseq.name_4=NM_005427;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T124T;refseq.proteinCoordStr_2=p.T124T;refseq.proteinCoordStr_3=p.T124T;refseq.proteinCoordStr_4=p.T173T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.spliceDist_4=90;refseq.start_1=3628534;refseq.start_2=3628534;refseq.start_3=3628534;refseq.start_4=3628534;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chr1 3659032 . C T 264.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=6.74;MQ=98.22;MQ0=0;OQ=7943.27;QD=19.00;RankSumP=0.114800;SB=-2293.81;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.127C>T;refseq.codonCoord=43;refseq.end=3659032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_152492;refseq.name2=CCDC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R43C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-192;refseq.start=3659032;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 3659061 . A G 126.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=487;Dels=0.00;HRun=0;HaplotypeScore=14.13;MQ=98.10;MQ0=0;OQ=17183.11;QD=35.28;RankSumP=1.00000;SB=-7476.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.156A>G;refseq.codonCoord=52;refseq.end=3659061;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_152492;refseq.name2=CCDC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.P52P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-163;refseq.start=3659061;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 3659065 . C G 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=493;Dels=0.00;HRun=0;HaplotypeScore=21.17;MQ=98.02;MQ0=0;OQ=22590.29;QD=45.82;RankSumP=1.00000;SB=-9634.98;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.160C>G;refseq.codonCoord=54;refseq.end=3659065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_152492;refseq.name2=CCDC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q54E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-159;refseq.start=3659065;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 3667793 . T C 355.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1884.80;QD=36.96;RankSumP=1.00000;SB=-755.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.800T>C;refseq.codonCoord=267;refseq.end=3667793;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_152492;refseq.name2=CCDC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.M267T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-62;refseq.start=3667793;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 3669635 . C T 55.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=112.55;QD=12.51;RankSumP=0.0571429;SB=-77.07;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1058C>T;refseq.codonCoord=353;refseq.end=3669635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_152492;refseq.name2=CCDC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T353M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=104;refseq.start=3669635;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 3693570 . G A 102.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=99.00;MQ0=0;OQ=1916.61;QD=18.43;RankSumP=0.0619562;SB=-381.39;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.780C>T;refseq.codonCoord=260;refseq.end=3693570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_020710;refseq.name2=LRRC47;refseq.positionType=CDS;refseq.proteinCoordStr=p.V260V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=165;refseq.start=3693570;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 3742996 . A T 145.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=11.61;MQ=98.53;MQ0=0;OQ=18280.65;QD=37.93;RankSumP=1.00000;SB=-8844.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1240T>A;refseq.codonCoord=414;refseq.end=3742996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1599;refseq.name=NM_014704;refseq.name2=KIAA0562;refseq.positionType=CDS;refseq.proteinCoordStr=p.L414I;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-78;refseq.start=3742996;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr1 3745535 . T C 299.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.86;MQ0=0;OQ=16588.12;QD=42.75;RankSumP=1.00000;SB=-4985.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.744A>G;refseq.codonCoord=248;refseq.end=3745535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_014704;refseq.name2=KIAA0562;refseq.positionType=CDS;refseq.proteinCoordStr=p.E248E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=3745535;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 3751339 . C T 449.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.76;MQ0=0;OQ=6845.24;QD=42.00;RankSumP=1.00000;SB=-2435.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.558G>A;refseq.codonCoord=186;refseq.end=3751339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_014704;refseq.name2=KIAA0562;refseq.positionType=CDS;refseq.proteinCoordStr=p.T186T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=3751339;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 3790102 . A G 432.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=99.00;MQ0=0;OQ=4434.70;QD=36.35;RankSumP=1.00000;SB=-1956.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.954A>G;refseq.codonCoord=318;refseq.end=3790102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_004402;refseq.name2=DFFB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P318P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=172;refseq.start=3790102;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 3797453 . G C 114.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.15;MQ0=0;OQ=7569.01;QD=48.21;RankSumP=1.00000;SB=-3729.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.158C>G;refseq.codonCoord=53;refseq.end=3797453;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_207356;refseq.name2=C1orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.T53R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=29;refseq.start=3797453;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr1 4671913 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=96.88;MQ0=0;OQ=191.76;QD=6.61;RankSumP=0.517302;SB=-105.97;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.123T>C;refseq.codingCoordStr_2=c.123T>C;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=4671913;refseq.end_2=4671913;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=504;refseq.name2_1=AJAP1;refseq.name2_2=AJAP1;refseq.name_1=NM_001042478;refseq.name_2=NM_018836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C41C;refseq.proteinCoordStr_2=p.C41C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.start_1=4671913;refseq.start_2=4671913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr1 4672577 . G A 293.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.92;MQ0=0;OQ=6291.46;QD=41.39;RankSumP=1.00000;SB=-2174.75;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.787G>A;refseq.codingCoordStr_2=c.787G>A;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.end_1=4672577;refseq.end_2=4672577;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1168;refseq.mrnaCoord_2=1168;refseq.name2_1=AJAP1;refseq.name2_2=AJAP1;refseq.name_1=NM_001042478;refseq.name_2=NM_018836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G263R;refseq.proteinCoordStr_2=p.G263R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=4672577;refseq.start_2=4672577;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr1 6081149 . A G 277.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=5649.23;QD=37.17;RankSumP=1.00000;SB=-2525.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1032A>G;refseq.codingCoordStr_2=c.990A>G;refseq.codonCoord_1=344;refseq.codonCoord_2=330;refseq.end_1=6081149;refseq.end_2=6081149;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1210;refseq.mrnaCoord_2=1168;refseq.name2_1=KCNAB2;refseq.name2_2=KCNAB2;refseq.name_1=NM_003636;refseq.name_2=NM_172130;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S344S;refseq.proteinCoordStr_2=p.S330S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=6081149;refseq.start_2=6081149;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr1 6106679 . A G 234.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=96.50;MQ0=0;OQ=3368.72;QD=35.09;RankSumP=1.00000;SB=-1078.71;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4615T>C;refseq.codonCoord=1539;refseq.end=6106679;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4715;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1539P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=76;refseq.start=6106679;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 6108496 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4088A>G;refseq.codonCoord=1363;refseq.end=6108496;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4188;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1363G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=6108496;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 6119456 . A G 347.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.25;MQ0=0;OQ=2017.69;QD=36.03;RankSumP=1.00000;SB=-854.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2493T>C;refseq.codonCoord=831;refseq.end=6119456;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2593;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I831I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=57;refseq.start=6119456;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 6131553 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=4.30255e-07;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1331A>C;refseq.codonCoord=444;refseq.end=6131553;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1431;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N444T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-53;refseq.start=6131553;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 6131950 . T C 371.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.13;MQ0=0;OQ=4064.67;QD=37.29;RankSumP=1.00000;SB=-598.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1104A>G;refseq.codonCoord=368;refseq.end=6131950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1204;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V368V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-58;refseq.start=6131950;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 6133770 . G A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=156;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=98.32;MQ0=0;OQ=6027.96;QD=38.64;RankSumP=1.00000;SB=-2840.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.903C>T;refseq.codonCoord=301;refseq.end=6133770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F301F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=33;refseq.start=6133770;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 6138323 . C G 321.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=9.73;MQ=98.66;MQ0=0;OQ=2863.17;QD=20.16;RankSumP=0.339134;SB=-1347.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.429G>C;refseq.codonCoord=143;refseq.end=6138323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_015557;refseq.name2=CHD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L143L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=42;refseq.start=6138323;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 6191927 . A G 36.49 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=9.12;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.564A>G;refseq.codonCoord=188;refseq.end=6191927;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_207396;refseq.name2=RNF207;refseq.positionType=CDS;refseq.proteinCoordStr=p.A188A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=13;refseq.start=6191927;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr1 6195793 . C T 195.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=10.64;MQ=98.35;MQ0=0;OQ=3136.08;QD=16.59;RankSumP=0.375582;SB=-1147.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1615C>T;refseq.codonCoord=539;refseq.end=6195793;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1789;refseq.name=NM_207396;refseq.name2=RNF207;refseq.positionType=CDS;refseq.proteinCoordStr=p.R539C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-38;refseq.start=6195793;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 6201001 . A G 392.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.57;MQ0=0;OQ=3085.34;QD=36.73;RankSumP=1.00000;SB=-1306.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1718A>G;refseq.codonCoord=573;refseq.end=6201001;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1892;refseq.name=NM_207396;refseq.name2=RNF207;refseq.positionType=CDS;refseq.proteinCoordStr=p.N573S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-16;refseq.start=6201001;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 6201957 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=97.65;MQ0=0;OQ=653.17;QD=20.41;RankSumP=0.299276;SB=-191.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1808G>C;refseq.codonCoord=603;refseq.end=6201957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1982;refseq.name=NM_207396;refseq.name2=RNF207;refseq.positionType=CDS;refseq.proteinCoordStr=p.G603A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=75;refseq.start=6201957;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 6227981 . G A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.333333;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.388G>A;refseq.codonCoord=130;refseq.end=6227981;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_001024598;refseq.name2=HES3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A130T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=225;refseq.start=6227981;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 6423361 . T C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.321429;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.764T>C;refseq.codonCoord=255;refseq.end=6423361;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_031475;refseq.name2=ESPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V255A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=89;refseq.start=6423361;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr1 6423672 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=6.34531e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.950A>C;refseq.codonCoord=317;refseq.end=6423672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1118;refseq.name=NM_031475;refseq.name2=ESPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H317P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-41;refseq.start=6423672;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 6427287 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1150T>C;refseq.codonCoord=384;refseq.end=6427287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1318;refseq.name=NM_031475;refseq.name2=ESPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S384P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-43;refseq.start=6427287;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 6427290 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=218;Dels=0.00;HRun=2;HaplotypeScore=17.33;MQ=60.37;MQ0=6;OQ=110.09;QD=0.50;RankSumP=0.00000;SB=278.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1153T>C;refseq.codonCoord=385;refseq.end=6427290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_031475;refseq.name2=ESPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S385P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-40;refseq.start=6427290;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 6453232 . T C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=2;RankSumP=0.639155;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.1769A>G;refseq.codingCoordStr_2=c.1601A>G;refseq.codingCoordStr_3=c.1601A>G;refseq.codingCoordStr_4=c.1601A>G;refseq.codingCoordStr_5=c.1832A>G;refseq.codonCoord_1=590;refseq.codonCoord_2=534;refseq.codonCoord_3=534;refseq.codonCoord_4=534;refseq.codonCoord_5=611;refseq.end_1=6453232;refseq.end_2=6453232;refseq.end_3=6453232;refseq.end_4=6453232;refseq.end_5=6453232;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1870;refseq.mrnaCoord_2=1824;refseq.mrnaCoord_3=1807;refseq.mrnaCoord_4=1752;refseq.mrnaCoord_5=2330;refseq.name2_1=PLEKHG5;refseq.name2_2=PLEKHG5;refseq.name2_3=PLEKHG5;refseq.name2_4=PLEKHG5;refseq.name2_5=PLEKHG5;refseq.name_1=NM_001042663;refseq.name_2=NM_001042664;refseq.name_3=NM_001042665;refseq.name_4=NM_020631;refseq.name_5=NM_198681;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E590G;refseq.proteinCoordStr_2=p.E534G;refseq.proteinCoordStr_3=p.E534G;refseq.proteinCoordStr_4=p.E534G;refseq.proteinCoordStr_5=p.E611G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.spliceDist_4=59;refseq.spliceDist_5=59;refseq.start_1=6453232;refseq.start_2=6453232;refseq.start_3=6453232;refseq.start_4=6453232;refseq.start_5=6453232;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=soap GT 1/0 chr1 6536978 . A C 9.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=123.82;QD=24.76;RankSumP=1.00000;SB=-88.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.172T>G;refseq.codonCoord=58;refseq.end=6536978;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_024654;refseq.name2=NOL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S58A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-225;refseq.start=6536978;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr1 6537002 rs6693400 A G 42.83 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=21.42;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.148T>C;refseq.codonCoord=50;refseq.end=6537002;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_024654;refseq.name2=NOL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.W50R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=244;refseq.start=6537002;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,2:2:-7.69,-0.60,-0.00:6.02 chr1 6537122 . G A 183.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=97.82;MQ0=0;OQ=1356.94;QD=23.00;RankSumP=1.00000;SB=-456.52;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.28C>T;refseq.codonCoord=10;refseq.end=6537122;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=124;refseq.name=NM_024654;refseq.name2=NOL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R10W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=124;refseq.start=6537122;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr1 6557818 . A G 296 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=3425.79;QD=39.38;RankSumP=1.00000;SB=-1165.81;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.1039A>G;refseq.codingCoordStr_4=c.1039A>G;refseq.codonCoord_3=347;refseq.codonCoord_4=347;refseq.end_1=6559051;refseq.end_2=6559051;refseq.end_3=6557818;refseq.end_4=6557818;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1039;refseq.mrnaCoord_4=1039;refseq.name2_1=TAS1R1;refseq.name2_2=TAS1R1;refseq.name2_3=TAS1R1;refseq.name2_4=TAS1R1;refseq.name_1=NM_177540;refseq.name_2=NM_177541;refseq.name_3=NM_138697;refseq.name_4=NM_177539;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.K347E;refseq.proteinCoordStr_4=p.K347E;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_3=-222;refseq.spliceDist_4=-222;refseq.start_1=6553873;refseq.start_2=6553873;refseq.start_3=6557818;refseq.start_4=6557818;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 1/1 chr1 6561571 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.1866C>T;refseq.codingCoordStr_3=c.*89C>T;refseq.codingCoordStr_4=c.1104C>T;refseq.codonCoord_2=622;refseq.codonCoord_4=368;refseq.end_1=6561932;refseq.end_2=6561571;refseq.end_3=6561571;refseq.end_4=6561571;refseq.frame_2=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1866;refseq.mrnaCoord_3=1532;refseq.mrnaCoord_4=1104;refseq.name2_1=TAS1R1;refseq.name2_2=TAS1R1;refseq.name2_3=TAS1R1;refseq.name2_4=TAS1R1;refseq.name_1=NM_177541;refseq.name_2=NM_138697;refseq.name_3=NM_177539;refseq.name_4=NM_177540;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.F622F;refseq.proteinCoordStr_4=p.F368F;refseq.referenceAA_2=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_2=272;refseq.spliceDist_3=272;refseq.spliceDist_4=272;refseq.start_1=6559728;refseq.start_2=6561571;refseq.start_3=6561571;refseq.start_4=6561571;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_4=TTT;set=FilteredInAll GT 0/1 chr1 6563935 . G A 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=159.75;QD=6.95;RankSumP=0.617546;SB=-54.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.679G>A;refseq.codonCoord=227;refseq.end=6563935;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_005341;refseq.name2=ZBTB48;refseq.positionType=CDS;refseq.proteinCoordStr=p.G227S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-12;refseq.start=6563935;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 1/0 chr1 6582092 . G A 159.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.76;MQ0=0;OQ=1525.15;QD=16.23;RankSumP=0.279349;SB=-719.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1029C>T;refseq.codonCoord=343;refseq.end=6582092;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_014851;refseq.name2=KLHL21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S343S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=6582092;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 6627222 . A G 268.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.73;MQ0=0;OQ=9501.73;QD=38.16;RankSumP=1.00000;SB=-4392.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1080T>C;refseq.codonCoord=360;refseq.end=6627222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1186;refseq.name=NM_018198;refseq.name2=DNAJC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G360G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-18;refseq.start=6627222;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 6628462 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.868A>C;refseq.codonCoord=290;refseq.end=6628462;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_018198;refseq.name2=DNAJC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T290P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-27;refseq.start=6628462;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 7646351 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1157T>G;refseq.codonCoord=386;refseq.end=7646351;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1364;refseq.name=NM_015215;refseq.name2=CAMTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V386G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=352;refseq.start=7646351;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 7646544 . G A 222.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=14.03;MQ=98.58;MQ0=0;OQ=5652.55;QD=18.47;RankSumP=0.198017;SB=-2285.85;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1350G>A;refseq.codonCoord=450;refseq.end=7646544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1557;refseq.name=NM_015215;refseq.name2=CAMTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S450S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=545;refseq.start=7646544;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr1 7792635 . T C 173.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=13.49;MQ=98.52;MQ0=0;OQ=16020.80;QD=34.09;RankSumP=1.00000;SB=-4813.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1335T>C;refseq.codonCoord=445;refseq.end=7792635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S445S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-34;refseq.start=7792635;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 7809226 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2033T>G;refseq.codonCoord=678;refseq.end=7809226;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2208;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V678G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=100;refseq.start=7809226;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 7809835 . G A 58.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=97.69;MQ0=0;OQ=1909.75;QD=28.94;RankSumP=1.00000;SB=-759.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2235G>A;refseq.codonCoord=745;refseq.end=7809835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2410;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P745P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=71;refseq.start=7809835;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 7810011 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2411T>C;refseq.codonCoord=804;refseq.end=7810011;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2586;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L804P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=247;refseq.start=7810011;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 7810080 . T C 264.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=6.82;MQ=98.45;MQ0=0;OQ=11617.47;QD=36.53;RankSumP=1.00000;SB=-2944.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2480T>C;refseq.codonCoord=827;refseq.end=7810080;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2655;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L827P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=316;refseq.start=7810080;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 7812528 . C T 270.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=96.65;MQ0=0;OQ=18747.60;QD=39.89;RankSumP=1.00000;SB=-7202.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2907C>T;refseq.codonCoord=969;refseq.end=7812528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3082;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T969T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=45;refseq.start=7812528;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 7812611 . T G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0457059;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2990T>G;refseq.codonCoord=997;refseq.end=7812611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3165;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M997R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=128;refseq.start=7812611;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chr1 7812613 . A G 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0315822;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2992A>G;refseq.codonCoord=998;refseq.end=7812613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3167;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K998E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=130;refseq.start=7812613;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr1 7812640 . G A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.426684;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3019G>A;refseq.codonCoord=1007;refseq.end=7812640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3194;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1007T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=157;refseq.start=7812640;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 1/0 chr1 7812642 . T A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.477476;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3021T>A;refseq.codonCoord=1007;refseq.end=7812642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3196;refseq.name=NM_016831;refseq.name2=PER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1007A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=159;refseq.start=7812642;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr1 7836017 . G A 282.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.71;MQ0=0;OQ=14254.42;QD=42.17;RankSumP=1.00000;SB=-5480.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.62C>T;refseq.codonCoord=21;refseq.end=7836017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=122;refseq.name=NM_021995;refseq.name2=UTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T21M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-64;refseq.start=7836017;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 7922617 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.25G>T;refseq.codonCoord=9;refseq.end=7922617;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_001561;refseq.name2=TNFRSF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V9L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-76;refseq.start=7922617;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr1 8312971 . G C 223.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=97.83;MQ0=0;OQ=2191.79;QD=19.06;RankSumP=0.352093;SB=-991.40;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.831G>C;refseq.codonCoord=277;refseq.end=8312971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_001080397;refseq.name2=SLC45A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L277L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=116;refseq.start=8312971;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 8313082 . A G 106.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.62;MQ0=0;OQ=1003.30;QD=32.36;RankSumP=1.00000;SB=-342.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.942A>G;refseq.codonCoord=314;refseq.end=8313082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_001080397;refseq.name2=SLC45A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P314P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=227;refseq.start=8313082;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 8318147 . G T 133.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.26;MQ0=0;OQ=1583.26;QD=13.53;RankSumP=0.136484;SB=-307.72;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1507G>T;refseq.codonCoord=503;refseq.end=8318147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1507;refseq.name=NM_001080397;refseq.name2=SLC45A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A503S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=64;refseq.start=8318147;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 8341231 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=99.00;MQ0=0;OQ=315.85;QD=9.02;RankSumP=0.506590;SB=-175.16;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3951G>T;refseq.codingCoordStr_2=c.2289G>T;refseq.codingCoordStr_3=c.3951G>T;refseq.codonCoord_1=1317;refseq.codonCoord_2=763;refseq.codonCoord_3=1317;refseq.end_1=8341231;refseq.end_2=8341231;refseq.end_3=8341231;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4576;refseq.mrnaCoord_2=2875;refseq.mrnaCoord_3=4761;refseq.name2_1=RERE;refseq.name2_2=RERE;refseq.name2_3=RERE;refseq.name_1=NM_001042681;refseq.name_2=NM_001042682;refseq.name_3=NM_012102;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1317R;refseq.proteinCoordStr_2=p.R763R;refseq.proteinCoordStr_3=p.R1317R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=333;refseq.spliceDist_2=333;refseq.spliceDist_3=333;refseq.start_1=8341231;refseq.start_2=8341231;refseq.start_3=8341231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr1 8341237 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=99.00;MQ0=0;OQ=382.38;QD=9.80;RankSumP=0.178167;SB=-205.63;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3945A>G;refseq.codingCoordStr_2=c.2283A>G;refseq.codingCoordStr_3=c.3945A>G;refseq.codonCoord_1=1315;refseq.codonCoord_2=761;refseq.codonCoord_3=1315;refseq.end_1=8341237;refseq.end_2=8341237;refseq.end_3=8341237;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4570;refseq.mrnaCoord_2=2869;refseq.mrnaCoord_3=4755;refseq.name2_1=RERE;refseq.name2_2=RERE;refseq.name2_3=RERE;refseq.name_1=NM_001042681;refseq.name_2=NM_001042682;refseq.name_3=NM_012102;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1315R;refseq.proteinCoordStr_2=p.R761R;refseq.proteinCoordStr_3=p.R1315R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=327;refseq.spliceDist_2=327;refseq.spliceDist_3=327;refseq.start_1=8341237;refseq.start_2=8341237;refseq.start_3=8341237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/0 chr1 8348487 . T C 149.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=99.00;MQ0=0;OQ=1669.45;QD=13.04;RankSumP=0.0780778;SB=-548.76;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1419A>G;refseq.codingCoordStr_2=c.-244A>G;refseq.codingCoordStr_3=c.1419A>G;refseq.codonCoord_1=473;refseq.codonCoord_3=473;refseq.end_1=8348487;refseq.end_2=8348487;refseq.end_3=8348487;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2044;refseq.mrnaCoord_2=343;refseq.mrnaCoord_3=2229;refseq.name2_1=RERE;refseq.name2_2=RERE;refseq.name2_3=RERE;refseq.name_1=NM_001042681;refseq.name_2=NM_001042682;refseq.name_3=NM_012102;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T473T;refseq.proteinCoordStr_3=p.T473T;refseq.referenceAA_1=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=8348487;refseq.start_2=8348487;refseq.start_3=8348487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr1 8638883 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.206213;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.61C>T;refseq.codingCoordStr_2=c.61C>T;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=8638883;refseq.end_2=8638883;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=686;refseq.mrnaCoord_2=871;refseq.name2_1=RERE;refseq.name2_2=RERE;refseq.name_1=NM_001042681;refseq.name_2=NM_012102;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R21*;refseq.proteinCoordStr_2=p.R21*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=205;refseq.spliceDist_2=205;refseq.start_1=8638883;refseq.start_2=8638883;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=FilteredInAll GT 1/0 chr1 8931993 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.80;MQ0=0;OQ=1241.57;QD=10.80;RankSumP=0.325768;SB=-545.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.164C>T;refseq.codonCoord=55;refseq.end=8931993;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_001215;refseq.name2=CA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T55M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=85;refseq.start=8931993;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 8932031 . A C 140.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.88;MQ0=0;OQ=2146.28;QD=12.55;RankSumP=0.280833;SB=-664.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.202A>C;refseq.codonCoord=68;refseq.end=8932031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_001215;refseq.name2=CA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M68L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-58;refseq.start=8932031;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 8985978 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1507A>C;refseq.codonCoord=503;refseq.end=8985978;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1507;refseq.name=NM_207420;refseq.name2=SLC2A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T503P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-33;refseq.start=8985978;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 8987425 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.86;MQ0=0;OQ=610.44;QD=9.39;RankSumP=0.695078;SB=-215.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1293C>T;refseq.codonCoord=431;refseq.end=8987425;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_207420;refseq.name2=SLC2A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I431I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-28;refseq.start=8987425;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 9088272 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=157;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=98.36;MQ0=0;OQ=3051.96;QD=19.44;RankSumP=0.0275394;SB=-1423.49;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.652C>T;refseq.codonCoord=218;refseq.end=9088272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_024980;refseq.name2=GPR157;refseq.positionType=CDS;refseq.proteinCoordStr=p.R218C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=9088272;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr1 9228032 . A C 176.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=248;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=98.57;MQ0=0;OQ=4987.31;QD=20.11;RankSumP=0.481493;SB=-1651.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.452A>C;refseq.codonCoord=151;refseq.end=9228032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.D151A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-176;refseq.start=9228032;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 9229620 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=638;Dels=0.00;HRun=0;HaplotypeScore=22.04;MQ=98.42;MQ0=0;OQ=11771.97;QD=18.45;RankSumP=0.496064;SB=-4681.19;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.636G>A;refseq.codonCoord=212;refseq.end=9229620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=909;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A212A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=9229620;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 9229725 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=17.08;MQ=98.54;MQ0=0;OQ=2493.18;QD=10.65;RankSumP=0.231987;SB=-1167.14;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=9229725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A247A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=9229725;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr1 9246497 . G A 173.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=13.18;MQ=98.77;MQ0=0;OQ=2117.39;QD=14.12;RankSumP=0.397194;SB=-1019.44;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1358G>A;refseq.codonCoord=453;refseq.end=9246497;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.R453Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=343;refseq.start=9246497;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 9246800 . C T 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=99.00;MQ0=0;OQ=201.09;QD=9.58;RankSumP=0.0394466;SB=-76.27;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1661C>T;refseq.codonCoord=554;refseq.end=9246800;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1934;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P554L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=646;refseq.start=9246800;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 9247158 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=9.59;MQ=98.11;MQ0=0;OQ=2441.87;QD=12.15;RankSumP=0.282694;SB=-634.63;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2019T>C;refseq.codonCoord=673;refseq.end=9247158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2292;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y673Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=1004;refseq.start=9247158;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr1 9247257 . A G 102.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.56;MQ0=0;OQ=620.21;QD=16.76;RankSumP=0.493482;SB=-164.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2118A>G;refseq.codonCoord=706;refseq.end=9247257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2391;refseq.name=NM_004285;refseq.name2=H6PD;refseq.positionType=CDS;refseq.proteinCoordStr=p.S706S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1103;refseq.start=9247257;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 9701445 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1127A>G;refseq.codonCoord=376;refseq.end=9701445;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1335;refseq.name=NM_005026;refseq.name2=PIK3CD;refseq.positionType=CDS;refseq.proteinCoordStr=p.E376G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=107;refseq.start=9701445;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 9718625 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=184;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.03;MQ0=0;OQ=3984.49;QD=21.65;RankSumP=0.366058;SB=-1690.32;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1639G>A;refseq.codingCoordStr_2=c.1609G>A;refseq.codonCoord_1=547;refseq.codonCoord_2=537;refseq.end_1=9718625;refseq.end_2=9718625;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2398;refseq.mrnaCoord_2=2368;refseq.name2_1=CLSTN1;refseq.name2_2=CLSTN1;refseq.name_1=NM_001009566;refseq.name_2=NM_014944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G547R;refseq.proteinCoordStr_2=p.G537R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=9718625;refseq.start_2=9718625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr1 10241239 . C G 109.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.88;MQ0=0;OQ=5059.89;QD=24.80;RankSumP=0.316268;SB=-1158.15;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.285C>G;refseq.codingCoordStr_2=c.285C>G;refseq.codonCoord_1=95;refseq.codonCoord_2=95;refseq.end_1=10241239;refseq.end_2=10241239;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=537;refseq.mrnaCoord_2=537;refseq.name2_1=KIF1B;refseq.name2_2=KIF1B;refseq.name_1=NM_015074;refseq.name_2=NM_183416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A95A;refseq.proteinCoordStr_2=p.A95A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=10241239;refseq.start_2=10241239;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 10287199 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.3369A>C;refseq.codonCoord_2=1123;refseq.end_1=10302677;refseq.end_2=10287199;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3621;refseq.name2_1=KIF1B;refseq.name2_2=KIF1B;refseq.name_1=NM_015074;refseq.name_2=NM_183416;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K1123N;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=1392;refseq.start_1=10279902;refseq.start_2=10287199;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr1 10357911 . C A 364.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=5.69;MQ=98.94;MQ0=0;OQ=7074.49;QD=19.76;RankSumP=0.329394;SB=-2183.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5163C>A;refseq.codonCoord=1721;refseq.end=10357911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5415;refseq.name=NM_015074;refseq.name2=KIF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1721T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=12;refseq.start=10357911;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 10383072 . T C 108.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=85.82;MQ0=37;OQ=6587.61;QD=15.91;RankSumP=0.353726;SB=-2641.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.120T>C;refseq.codonCoord=40;refseq.end=10383072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_002631;refseq.name2=PGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.D40D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=36;refseq.start=10383072;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 10395757 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.706A>C;refseq.codonCoord=236;refseq.end=10395757;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_002631;refseq.name2=PGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.T236P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=52;refseq.start=10395757;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 10395783 . C T 265.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=6.22;MQ=97.00;MQ0=3;OQ=4963.60;QD=18.32;RankSumP=0.339314;SB=-1791.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.732C>T;refseq.codonCoord=244;refseq.end=10395783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_002631;refseq.name2=PGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.D244D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=78;refseq.start=10395783;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 10434176 . T C 167.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2547.66;QD=33.97;RankSumP=1.00000;SB=-1138.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.405T>C;refseq.codingCoordStr_2=c.432T>C;refseq.codonCoord_1=135;refseq.codonCoord_2=144;refseq.end_1=10434176;refseq.end_2=10434176;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=565;refseq.mrnaCoord_2=848;refseq.name2_1=CORT;refseq.name2_2=APITD1;refseq.name_1=NM_001302;refseq.name_2=NM_198544;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S135S;refseq.proteinCoordStr_2=p.S144S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.start_1=10434176;refseq.start_2=10434176;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr1 10445772 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.713C>G;refseq.codingCoordStr_2=c.713C>G;refseq.codonCoord_1=238;refseq.codonCoord_2=238;refseq.end_1=10445772;refseq.end_2=10445772;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=811;refseq.name2_1=DFFA;refseq.name2_2=DFFA;refseq.name_1=NM_004401;refseq.name_2=NM_213566;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A238G;refseq.proteinCoordStr_2=p.A238G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-71;refseq.spliceDist_2=82;refseq.start_1=10445772;refseq.start_2=10445772;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 10518928 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=3.14;MQ=98.61;MQ0=0;OQ=1511.65;QD=14.26;RankSumP=0.340405;SB=-375.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=10518928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_004565;refseq.name2=PEX14;refseq.positionType=CDS;refseq.proteinCoordStr=p.F52F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-14;refseq.start=10518928;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr1 10627612 . C G 23 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=1.25862e-06;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3817G>C;refseq.codonCoord=1273;refseq.end=10627612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4137;refseq.name=NM_001079843;refseq.name2=CASZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1273P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-52;refseq.start=10627612;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 10627697 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.14;MQ0=0;OQ=664.19;QD=9.63;RankSumP=0.392793;SB=-147.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3732C>T;refseq.codonCoord=1244;refseq.end=10627697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4052;refseq.name=NM_001079843;refseq.name2=CASZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1244C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=36;refseq.start=10627697;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 10630729 . A G 17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=13;Dels=0.00;HRun=2;HaplotypeScore=3.70;MQ=99.00;MQ0=0;OQ=107.49;QD=8.27;RankSumP=0.100000;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3213T>C;refseq.codingCoordStr_2=c.3213T>C;refseq.codonCoord_1=1071;refseq.codonCoord_2=1071;refseq.end_1=10630729;refseq.end_2=10630729;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3533;refseq.mrnaCoord_2=3533;refseq.name2_1=CASZ1;refseq.name2_2=CASZ1;refseq.name_1=NM_001079843;refseq.name_2=NM_017766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F1071F;refseq.proteinCoordStr_2=p.F1071F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=10630729;refseq.start_2=10630729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 0/1 chr1 10636352 . T C 124.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.91;MQ0=0;OQ=919.45;QD=32.84;RankSumP=1.00000;SB=-193.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2349A>G;refseq.codingCoordStr_2=c.2349A>G;refseq.codonCoord_1=783;refseq.codonCoord_2=783;refseq.end_1=10636352;refseq.end_2=10636352;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2669;refseq.mrnaCoord_2=2669;refseq.name2_1=CASZ1;refseq.name2_2=CASZ1;refseq.name_1=NM_001079843;refseq.name_2=NM_017766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S783S;refseq.proteinCoordStr_2=p.S783S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-332;refseq.spliceDist_2=-332;refseq.start_1=10636352;refseq.start_2=10636352;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr1 10641199 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1362A>C;refseq.codingCoordStr_2=c.1362A>C;refseq.codonCoord_1=454;refseq.codonCoord_2=454;refseq.end_1=10641199;refseq.end_2=10641199;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1682;refseq.mrnaCoord_2=1682;refseq.name2_1=CASZ1;refseq.name2_2=CASZ1;refseq.name_1=NM_001079843;refseq.name_2=NM_017766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K454N;refseq.proteinCoordStr_2=p.K454N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=10641199;refseq.start_2=10641199;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr1 10648085 . G A 211.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.32;MQ0=0;OQ=888.36;QD=15.86;RankSumP=0.393004;SB=-406.15;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.147C>T;refseq.codingCoordStr_2=c.147C>T;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=10648085;refseq.end_2=10648085;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=467;refseq.name2_1=CASZ1;refseq.name2_2=CASZ1;refseq.name_1=NM_001079843;refseq.name_2=NM_017766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D49D;refseq.proteinCoordStr_2=p.D49D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=131;refseq.spliceDist_2=131;refseq.start_1=10648085;refseq.start_2=10648085;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr1 11010111 . G A 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=637;Dels=0.00;HRun=0;HaplotypeScore=30.25;MQ=98.94;MQ0=0;OQ=26737.74;QD=41.97;RankSumP=1.00000;SB=-12640.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1479C>T;refseq.codonCoord=493;refseq.end=11010111;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1500;refseq.name=NM_006610;refseq.name2=MASP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S493S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=182;refseq.start=11010111;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 11013503 . C A 285.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.48;MQ0=0;OQ=9091.35;QD=37.41;RankSumP=1.00000;SB=-3750.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1111G>T;refseq.codonCoord=371;refseq.end=11013503;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_006610;refseq.name2=MASP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D371Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=24;refseq.start=11013503;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 11041903 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.254A>C;refseq.codonCoord=85;refseq.end=11041903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_003132;refseq.name2=SRM;refseq.positionType=CDS;refseq.proteinCoordStr=p.N85T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-35;refseq.start=11041903;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 11042486 . T C 156.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=92.92;MQ0=0;OQ=922.59;QD=18.09;RankSumP=1.00000;SB=-45.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.102A>G;refseq.codonCoord=34;refseq.end=11042486;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_003132;refseq.name2=SRM;refseq.positionType=CDS;refseq.proteinCoordStr=p.S34S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-66;refseq.start=11042486;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 11054804 . G A 176.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=7.47;MQ=98.69;MQ0=0;OQ=15695.04;QD=41.19;RankSumP=1.00000;SB=-4573.23;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2169C>T;refseq.codingCoordStr_2=c.2094C>T;refseq.codonCoord_1=723;refseq.codonCoord_2=698;refseq.end_1=11054804;refseq.end_2=11054804;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2219;refseq.mrnaCoord_2=2144;refseq.name2_1=EXOSC10;refseq.name2_2=EXOSC10;refseq.name_1=NM_001001998;refseq.name_2=NM_002685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R723R;refseq.proteinCoordStr_2=p.R698R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=11054804;refseq.start_2=11054804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr1 11063774 . C G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=2;HaplotypeScore=12.48;MQ=98.57;MQ0=0;OQ=6027.65;QD=40.73;RankSumP=1.00000;SB=-1902.74;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1389G>C;refseq.codingCoordStr_2=c.1389G>C;refseq.codonCoord_1=463;refseq.codonCoord_2=463;refseq.end_1=11063774;refseq.end_2=11063774;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1439;refseq.mrnaCoord_2=1439;refseq.name2_1=EXOSC10;refseq.name2_2=EXOSC10;refseq.name_1=NM_001001998;refseq.name_2=NM_002685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P463P;refseq.proteinCoordStr_2=p.P463P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=11063774;refseq.start_2=11063774;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr1 11090823 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr=chr1;refseq.codingCoordStr=c.7634+2;refseq.end=11090823;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=11090823;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr1 11127645 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=518;Dels=0.00;HRun=1;HaplotypeScore=6.82;MQ=98.68;MQ0=0;OQ=21863.85;QD=42.21;RankSumP=1.00000;SB=-10618.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4731G>A;refseq.codonCoord=1577;refseq.end=11127645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4852;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1577A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-34;refseq.start=11127645;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 11181930 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4225A>C;refseq.codonCoord=1409;refseq.end=11181930;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4346;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1409P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-29;refseq.start=11181930;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 11211345 . G A 309.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=98.73;MQ0=0;OQ=4857.52;QD=40.48;RankSumP=1.00000;SB=-1314.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2997C>T;refseq.codonCoord=999;refseq.end=11211345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3118;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N999N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-34;refseq.start=11211345;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 11224301 . A G 341 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1456.37;QD=37.34;RankSumP=1.00000;SB=-480.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1437T>C;refseq.codonCoord=479;refseq.end=11224301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.D479D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=25;refseq.start=11224301;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 11239610 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.471T>G;refseq.codonCoord=157;refseq.end=11239610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_004958;refseq.name2=MTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-34;refseq.start=11239610;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 11484180 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.42;MQ0=0;OQ=354.81;QD=10.75;RankSumP=0.223942;SB=-134.08;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.544G>A;refseq.codonCoord=182;refseq.end=11484180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_020780;refseq.name2=PTCHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G182S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=547;refseq.start=11484180;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 11502057 . G A 431.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.52;MQ0=0;OQ=3107.23;QD=37.89;RankSumP=1.00000;SB=-1256.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1948G>A;refseq.codonCoord=650;refseq.end=11502057;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2086;refseq.name=NM_020780;refseq.name2=PTCHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A650T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=59;refseq.start=11502057;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 11651481 . G A 199.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=4.97;MQ=85.50;MQ0=1;OQ=2018.16;QD=15.29;RankSumP=0.303565;SB=-859.89;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.179G>A;refseq.codonCoord=60;refseq.end=11651481;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_018438;refseq.name2=FBXO6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R60Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-108;refseq.start=11651481;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 11659517 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.307A>C;refseq.codingCoordStr_2=c.307A>C;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.end_1=11659517;refseq.end_2=11659517;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=528;refseq.mrnaCoord_2=495;refseq.name2_1=MAD2L2;refseq.name2_2=MAD2L2;refseq.name_1=NM_001127325;refseq.name_2=NM_006341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T103P;refseq.proteinCoordStr_2=p.T103P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=11659517;refseq.start_2=11659517;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 11692058 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.591A>C;refseq.codonCoord=197;refseq.end=11692058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_198545;refseq.name2=C1orf187;refseq.positionType=CDS;refseq.proteinCoordStr=p.A197A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-52;refseq.start=11692058;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 11694575 . A G 213.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.82;MQ0=0;OQ=2041.21;QD=15.82;RankSumP=0.256857;SB=-666.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.723A>G;refseq.codonCoord=241;refseq.end=11694575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_198545;refseq.name2=C1orf187;refseq.positionType=CDS;refseq.proteinCoordStr=p.L241L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-35;refseq.start=11694575;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 11777044 . G A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=2;HaplotypeScore=9.05;MQ=98.81;MQ0=0;OQ=18840.73;QD=42.63;RankSumP=1.00000;SB=-9377.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1305C>T;refseq.codonCoord=435;refseq.end=11777044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1534;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.F435F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-43;refseq.start=11777044;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 11777063 . T G 194.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=15.24;MQ=98.76;MQ0=0;OQ=9030.42;QD=22.35;RankSumP=0.340334;SB=-3893.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1286A>C;refseq.codonCoord=429;refseq.end=11777063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E429A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-62;refseq.start=11777063;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 11777483 . G A 176.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=930.59;QD=15.01;RankSumP=0.135750;SB=-481.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1056C>T;refseq.codonCoord=352;refseq.end=11777483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1285;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S352S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=25;refseq.start=11777483;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 11778965 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=10.92;MQ=98.29;MQ0=0;OQ=1179.99;QD=11.68;RankSumP=0.0973272;SB=-591.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.665C>T;refseq.codonCoord=222;refseq.end=11778965;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A222V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=79;refseq.start=11778965;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 11779042 . A C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.500023;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.588T>G;refseq.codonCoord=196;refseq.end=11779042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G196G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=11779042;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr1 11785644 . G A 218.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=13.62;MQ=98.31;MQ0=0;OQ=2161.23;QD=19.30;RankSumP=0.359644;SB=-772.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=11785644;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_005957;refseq.name2=MTHFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P39P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-120;refseq.start=11785644;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 11807142 . A G 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1011.20;QD=32.62;RankSumP=1.00000;SB=-500.50;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.593A>G;refseq.codingCoordStr_2=c.593A>G;refseq.codingCoordStr_3=c.593A>G;refseq.codingCoordStr_4=c.593A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.codonCoord_3=198;refseq.codonCoord_4=198;refseq.end_1=11807142;refseq.end_2=11807142;refseq.end_3=11807142;refseq.end_4=11807142;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=706;refseq.mrnaCoord_2=706;refseq.mrnaCoord_3=706;refseq.mrnaCoord_4=706;refseq.name2_1=CLCN6;refseq.name2_2=CLCN6;refseq.name2_3=CLCN6;refseq.name2_4=CLCN6;refseq.name_1=NM_001286;refseq.name_2=NM_021735;refseq.name_3=NM_021736;refseq.name_4=NM_021737;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E198G;refseq.proteinCoordStr_2=p.E198G;refseq.proteinCoordStr_3=p.E198G;refseq.proteinCoordStr_4=p.E198G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.start_1=11807142;refseq.start_2=11807142;refseq.start_3=11807142;refseq.start_4=11807142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=Intersection GT 1/1 chr1 11937499 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.605A>C;refseq.codonCoord=202;refseq.end=11937499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_000302;refseq.name2=PLOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H202P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=26;refseq.start=11937499;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 11937502 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.608G>C;refseq.codonCoord=203;refseq.end=11937502;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=699;refseq.name=NM_000302;refseq.name2=PLOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R203P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=29;refseq.start=11937502;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 11986764 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1287+2;refseq.codingCoordStr_2=c.1287+2;refseq.end_1=11986764;refseq.end_2=11986764;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MFN2;refseq.name2_2=MFN2;refseq.name_1=NM_001127660;refseq.name_2=NM_014874;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=11986764;refseq.start_2=11986764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr1 12005513 . A G 404.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.85;MQ0=0;OQ=2627.31;QD=41.05;RankSumP=1.00000;SB=-934.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.499A>G;refseq.codonCoord=167;refseq.end=12005513;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_021933;refseq.name2=MIIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K167E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=37;refseq.start=12005513;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 12046263 . G A 14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=50.14;QD=25.07;RankSumP=0.666667;SB=-49.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.21G>A;refseq.codonCoord=7;refseq.end=12046263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_001243;refseq.name2=TNFRSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A7A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-43;refseq.start=12046263;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr1 12067139 . A C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.500000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.95A>C;refseq.codonCoord=32;refseq.end=12067139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_001243;refseq.name2=TNFRSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N32T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=32;refseq.start=12067139;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr1 12098316 . C T 436.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.83;MQ0=0;OQ=16111.86;QD=40.69;RankSumP=1.00000;SB=-3212.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.889C>T;refseq.codonCoord=297;refseq.end=12098316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_001243;refseq.name2=TNFRSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R297C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-58;refseq.start=12098316;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr1 12120884 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=96.21;MQ0=0;OQ=745.73;QD=12.43;RankSumP=0.200217;SB=-186.61;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1347T>C;refseq.codingCoordStr_2=c.-43T>C;refseq.codonCoord_1=449;refseq.end_1=12120884;refseq.end_2=12120884;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1569;refseq.mrnaCoord_2=244;refseq.name2_1=TNFRSF8;refseq.name2_2=TNFRSF8;refseq.name_1=NM_001243;refseq.name_2=NM_152942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.S449S;refseq.referenceAA_1=Ser;refseq.referenceCodon_1=AGT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=12120884;refseq.start_2=12120884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantCodon_1=AGC;set=Intersection GT 1/0 chr1 12171529 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=98.38;MQ0=0;OQ=563.14;QD=6.19;RankSumP=0.455539;SB=-181.52;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.168A>G;refseq.codonCoord=56;refseq.end=12171529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_001066;refseq.name2=TNFRSF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K56K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-11;refseq.start=12171529;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr1 12175542 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=187;Dels=0.00;HRun=2;HaplotypeScore=5.15;MQ=98.40;MQ0=0;OQ=2015.62;QD=10.78;RankSumP=0.0282041;SB=-677.39;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.587T>G;refseq.codonCoord=196;refseq.end=12175542;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_001066;refseq.name2=TNFRSF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M196R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=36;refseq.start=12175542;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr1 12239689 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=475;Dels=0.00;HRun=2;HaplotypeScore=32.66;MQ=98.45;MQ0=0;OQ=70.18;QD=0.15;RankSumP=0.00000;SB=802.60;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.899T>G;refseq.codingCoordStr_2=c.899T>G;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=12239689;refseq.end_2=12239689;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1040;refseq.mrnaCoord_2=1040;refseq.name2_1=VPS13D;refseq.name2_2=VPS13D;refseq.name_1=NM_015378;refseq.name_2=NM_018156;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V300G;refseq.proteinCoordStr_2=p.V300G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=12239689;refseq.start_2=12239689;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 12259991 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3759C>A;refseq.codingCoordStr_2=c.3759C>A;refseq.codonCoord_1=1253;refseq.codonCoord_2=1253;refseq.end_1=12259991;refseq.end_2=12259991;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3900;refseq.mrnaCoord_2=3900;refseq.name2_1=VPS13D;refseq.name2_2=VPS13D;refseq.name_1=NM_015378;refseq.name_2=NM_018156;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1253*;refseq.proteinCoordStr_2=p.Y1253*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-692;refseq.spliceDist_2=-692;refseq.start_1=12259991;refseq.start_2=12259991;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr1 12324455 . A C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=282;Dels=0.00;HRun=2;HaplotypeScore=5.63;MQ=98.44;MQ0=0;OQ=10676.91;QD=37.86;RankSumP=1.00000;SB=-3474.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.8658A>C;refseq.codingCoordStr_2=c.8583A>C;refseq.codonCoord_1=2886;refseq.codonCoord_2=2861;refseq.end_1=12324455;refseq.end_2=12324455;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8799;refseq.mrnaCoord_2=8724;refseq.name2_1=VPS13D;refseq.name2_2=VPS13D;refseq.name_1=NM_015378;refseq.name_2=NM_018156;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2886P;refseq.proteinCoordStr_2=p.P2861P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=12324455;refseq.start_2=12324455;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr1 12561551 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.02;MQ0=0;OQ=1442.84;QD=11.92;RankSumP=0.0445705;SB=-625.54;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.480A>G;refseq.codonCoord=160;refseq.end=12561551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_004753;refseq.name2=DHRS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P160P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=21;refseq.start=12561551;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 12698931 . A T 113.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=9.51;MQ=98.69;MQ0=0;OQ=14443.69;QD=40.23;RankSumP=1.00000;SB=-7046.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1A>T;refseq.codingCoordStr_2=c.-7A>T;refseq.codonCoord_1=1;refseq.end_1=12698931;refseq.end_2=12698931;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=227;refseq.mrnaCoord_2=227;refseq.name2_1=AADACL3;refseq.name2_2=AADACL3;refseq.name_1=NM_001103169;refseq.name_2=NM_001103170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.M1L;refseq.referenceAA_1=Met;refseq.referenceCodon_1=ATG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=12698931;refseq.start_2=12698931;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.uorfChange_2=-1;refseq.variantAA_1=Leu;refseq.variantCodon_1=TTG;set=Intersection GT 1/1 chr1 12702147 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=3;HaplotypeScore=5.00;MQ=98.35;MQ0=0;OQ=2579.34;QD=15.92;RankSumP=0.0424003;SB=-1039.46;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.81T>C;refseq.codonCoord_2=27;refseq.end_1=12703461;refseq.end_2=12702147;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=314;refseq.name2_1=AADACL3;refseq.name2_2=AADACL3;refseq.name_1=NM_001103169;refseq.name_2=NM_001103170;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D27D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=84;refseq.start_1=12698945;refseq.start_2=12702147;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr1 12702205 . T C 124.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=326;Dels=0.00;HRun=2;HaplotypeScore=8.54;MQ=98.44;MQ0=0;OQ=5384.35;QD=16.52;RankSumP=0.0302761;SB=-1970.76;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.139T>C;refseq.codonCoord_2=47;refseq.end_1=12703461;refseq.end_2=12702205;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=372;refseq.name2_1=AADACL3;refseq.name2_2=AADACL3;refseq.name_1=NM_001103169;refseq.name_2=NM_001103170;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S47P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-76;refseq.start_1=12698945;refseq.start_2=12702205;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr1 12728989 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.24A>C;refseq.codonCoord=8;refseq.end=12728989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_152290;refseq.name2=C1orf158;refseq.positionType=CDS;refseq.proteinCoordStr=p.P8P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-88;refseq.start=12728989;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 12775990 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.357776;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.27A>C;refseq.codonCoord=9;refseq.end=12775990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L9L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=52;refseq.start=12775990;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr1 12776096 . A C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.517244;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.133A>C;refseq.codonCoord=45;refseq.end=12776096;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-155;refseq.start=12776096;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr1 12776131 . T G 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.683137;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.168T>G;refseq.codonCoord=56;refseq.end=12776131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V56V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-120;refseq.start=12776131;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr1 12776655 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1073;Dels=0.00;HRun=0;HaplotypeScore=17.14;MQ=41.10;MQ0=249;OQ=6160.66;QD=5.74;RankSumP=0.424929;SB=-1103.86;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.292T>C;refseq.codonCoord=98;refseq.end=12776655;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W98R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=12776655;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr1 12776677 . T A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1423;Dels=0.00;HRun=0;HaplotypeScore=27.14;MQ=40.70;MQ0=180;OQ=9834.77;QD=6.91;SB=-2401.36;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.314T>A;refseq.codonCoord=105;refseq.end=12776677;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L105*;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=27;refseq.start=12776677;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1163,258:1152:-982.48,-346.88,-3698.94:99 chr1 12776684 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1495;Dels=0.00;HRun=0;HaplotypeScore=35.76;MQ=40.34;MQ0=161;OQ=9845.03;QD=6.59;SB=-2558.63;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.321T>C;refseq.codonCoord=107;refseq.end=12776684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D107D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=34;refseq.start=12776684;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1215,278:1240:-983.50,-373.42,-4227.45:99 chr1 12776692 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1536;Dels=0.00;HRun=1;HaplotypeScore=26.71;MQ=40.20;MQ0=131;OQ=10930.90;QD=7.12;SB=-2920.72;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.329A>G;refseq.codonCoord=110;refseq.end=12776692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=42;refseq.start=12776692;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1252,284:1321:-1092.09,-397.76,-4714.49:99 chr1 12776749 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1156;Dels=0.00;HRun=0;HaplotypeScore=31.93;MQ=30.86;MQ0=235;OQ=2901.73;QD=2.51;RankSumP=0.477501;SB=608.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.386C>T;refseq.codonCoord=129;refseq.end=12776749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T129M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=99;refseq.start=12776749;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 0/1 chr1 12776775 . T C 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1184;Dels=0.00;HRun=1;HaplotypeScore=23.42;MQ=22.06;MQ0=617;OQ=908.02;QD=0.77;RankSumP=0.346154;SB=379.03;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.412T>C;refseq.codonCoord=138;refseq.end=12776775;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C138R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=125;refseq.start=12776775;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap-filterIngatk GT 1/0 chr1 12776943 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.320625;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.580T>C;refseq.codonCoord=194;refseq.end=12776943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y194H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-287;refseq.start=12776943;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr1 12776988 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.491653;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.625G>C;refseq.codonCoord=209;refseq.end=12776988;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E209Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-242;refseq.start=12776988;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr1 12777001 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1564;Dels=0.00;HRun=0;HaplotypeScore=27.09;MQ=36.61;MQ0=579;OQ=9030.07;QD=5.77;RankSumP=0.450890;SB=-3123.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.638G>A;refseq.codonCoord=213;refseq.end=12777001;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R213H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-229;refseq.start=12777001;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr1 12777061 . A C 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1448;Dels=0.00;HRun=0;HaplotypeScore=38.53;MQ=48.78;MQ0=817;OQ=629.53;QD=0.43;RankSumP=0.240827;SB=-135.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.698A>C;refseq.codonCoord=233;refseq.end=12777061;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=801;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N233T;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-169;refseq.start=12777061;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr1 12777066 rs1063775 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1339;Dels=0.00;HRun=1;HaplotypeScore=37.18;MQ=51.38;MQ0=734;OQ=534.56;QD=0.40;SB=-250.54;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.703C>G;refseq.codonCoord=235;refseq.end=12777066;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R235G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-164;refseq.start=12777066;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1058,280:560:-225.41,-168.67,-2409.03:99 chr1 12778234 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.649725;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.927C>T;refseq.codonCoord=309;refseq.end=12778234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D309D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=61;refseq.start=12778234;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr1 12778235 . A G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.692582;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.928A>G;refseq.codonCoord=310;refseq.end=12778235;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M310V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=62;refseq.start=12778235;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr1 12778422 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=315;Dels=0.00;HRun=1;HaplotypeScore=6.92;MQ=17.39;MQ0=235;OQ=2348.56;QD=7.46;RankSumP=1.00000;SB=-461.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1115C>G;refseq.codonCoord=372;refseq.end=12778422;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A372G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=249;refseq.start=12778422;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 12778432 . G C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=18.59;MQ0=200;OQ=2485.51;QD=9.07;RankSumP=1.00000;SB=-696.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1125G>C;refseq.codonCoord=375;refseq.end=12778432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1228;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R375R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=259;refseq.start=12778432;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 12778597 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1658;Dels=0.00;HRun=0;HaplotypeScore=32.04;MQ=15.84;MQ0=1034;OQ=16239.50;QD=9.79;RankSumP=0.478295;SB=-5512.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1290C>G;refseq.codonCoord=430;refseq.end=12778597;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1393;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F430L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-214;refseq.start=12778597;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 1/0 chr1 12778666 . C T 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.381342;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1359C>T;refseq.codonCoord=453;refseq.end=12778666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1462;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G453G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-145;refseq.start=12778666;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap GT 0/1 chr1 12778698 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1077;Dels=0.00;HRun=0;HaplotypeScore=23.41;MQ=12.29;MQ0=797;OQ=3991.71;QD=3.71;RankSumP=1.00000;SB=-1375.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1391C>T;refseq.codonCoord=464;refseq.end=12778698;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_023013;refseq.name2=PRAMEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P464L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-113;refseq.start=12778698;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 12829862 . G C 8611.57 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=1220;Dels=0.00;HRun=0;HaplotypeScore=423.79;MQ=68.52;MQ0=93;QD=7.06;SB=290.95;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.868C>G;refseq.codingCoordStr_2=c.868C>G;refseq.codonCoord_1=290;refseq.codonCoord_2=290;refseq.end_1=12829862;refseq.end_2=12829862;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1094;refseq.mrnaCoord_2=963;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q290E;refseq.proteinCoordStr_2=p.Q290E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-40;refseq.start_1=12829862;refseq.start_2=12829862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1015,205:1041:-860.16,-313.47,-4347.41:99 chr1 12829869 . G C 12060.83 SnpCluster AC=1;AF=0.50;AN=2;DP=1295;Dels=0.00;HRun=0;HaplotypeScore=450.21;MQ=69.68;MQ0=102;QD=9.31;SB=-2796.50;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.861C>G;refseq.codingCoordStr_2=c.861C>G;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=12829869;refseq.end_2=12829869;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1087;refseq.mrnaCoord_2=956;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T287T;refseq.proteinCoordStr_2=p.T287T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-47;refseq.start_1=12829869;refseq.start_2=12829869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1005,288:1098:-1205.08,-330.63,-4301.46:99 chr1 12829871 . T C 19873.22 SnpCluster AC=1;AF=0.50;AN=2;DP=1323;Dels=0.00;HRun=0;HaplotypeScore=470.22;MQ=69.87;MQ0=109;QD=15.02;SB=-3744.21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.859A>G;refseq.codingCoordStr_2=c.859A>G;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=12829871;refseq.end_2=12829871;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1085;refseq.mrnaCoord_2=954;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T287A;refseq.proteinCoordStr_2=p.T287A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-49;refseq.start_1=12829871;refseq.start_2=12829871;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:773,550:1126:-1986.32,-339.08,-2702.53:99 chr1 12829872 . G C 12614.21 SnpCluster AC=1;AF=0.50;AN=2;DP=1325;Dels=0.00;HRun=1;HaplotypeScore=470.73;MQ=70.09;MQ0=107;QD=9.52;SB=-3488.02;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.858C>G;refseq.codingCoordStr_2=c.858C>G;refseq.codonCoord_1=286;refseq.codonCoord_2=286;refseq.end_1=12829872;refseq.end_2=12829872;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1084;refseq.mrnaCoord_2=953;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S286R;refseq.proteinCoordStr_2=p.S286R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-50;refseq.start_1=12829872;refseq.start_2=12829872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1033,292:1119:-1260.42,-337.00,-4235.66:99 chr1 12829903 . T C 0.57 PASS AC=1;AF=0.50;AN=2;DP=1624;Dels=0.00;HRun=2;HaplotypeScore=10.99;MQ=76.55;MQ0=78;OQ=9795.76;QD=6.03;SB=-1211.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.827A>G;refseq.codingCoordStr_2=c.827A>G;refseq.codonCoord_1=276;refseq.codonCoord_2=276;refseq.end_1=12829903;refseq.end_2=12829903;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1053;refseq.mrnaCoord_2=922;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E276G;refseq.proteinCoordStr_2=p.E276G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-81;refseq.start_1=12829903;refseq.start_2=12829903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=gatk GT:AD:DP:GL:GQ 0/1:1379,244:1360:-978.58,-409.64,-4744.51:99 chr1 12829937 rs2359486 C T 7691.21 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1428;Dels=0.00;HRun=1;HaplotypeScore=399.25;MQ=83.23;MQ0=58;QD=5.39;SB=-569.09;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.793G>A;refseq.codingCoordStr_2=c.793G>A;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.end_1=12829937;refseq.end_2=12829937;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1019;refseq.mrnaCoord_2=888;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D265N;refseq.proteinCoordStr_2=p.D265N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-90;refseq.spliceDist_2=-115;refseq.start_1=12829937;refseq.start_2=12829937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1242,185:1148:-768.12,-345.65,-4154.82:99 chr1 12829938 rs2359485 A G 7097.65 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1420;Dels=0.00;HRun=0;HaplotypeScore=387.89;MQ=83.28;MQ0=55;QD=5.00;SB=-602.02;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.792T>C;refseq.codingCoordStr_2=c.792T>C;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=12829938;refseq.end_2=12829938;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1018;refseq.mrnaCoord_2=887;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D264D;refseq.proteinCoordStr_2=p.D264D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-91;refseq.spliceDist_2=-116;refseq.start_1=12829938;refseq.start_2=12829938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1237,182:1144:-708.77,-344.52,-4101.04:99 chr1 12829945 . T C 14187 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1373;Dels=0.00;HRun=5;HaplotypeScore=337.02;MQ=83.54;MQ0=29;QD=10.33;RankSumP=0.0849102;SB=-3297.44;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.785A>G;refseq.codingCoordStr_2=c.785A>G;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.end_1=12829945;refseq.end_2=12829945;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=880;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q262R;refseq.proteinCoordStr_2=p.Q262R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-98;refseq.spliceDist_2=-123;refseq.start_1=12829945;refseq.start_2=12829945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=soap-filterIngatk GT 1/0 chr1 12829957 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1132;Dels=0.00;HRun=0;HaplotypeScore=109.26;MQ=82.85;MQ0=9;OQ=12685.65;QD=11.21;RankSumP=0.0336072;SB=-1710.64;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.773T>A;refseq.codingCoordStr_2=c.773T>A;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.end_1=12829957;refseq.end_2=12829957;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=999;refseq.mrnaCoord_2=868;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V258D;refseq.proteinCoordStr_2=p.V258D;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-110;refseq.spliceDist_2=-135;refseq.start_1=12829957;refseq.start_2=12829957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap-filterIngatk GT 0/1 chr1 12829972 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=897;Dels=0.00;HRun=0;HaplotypeScore=105.51;MQ=78.59;MQ0=11;OQ=8362.35;QD=9.32;SB=-613.64;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.758C>T;refseq.codingCoordStr_2=c.758C>T;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.end_1=12829972;refseq.end_2=12829972;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=853;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P253L;refseq.proteinCoordStr_2=p.P253L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-125;refseq.spliceDist_2=-150;refseq.start_1=12829972;refseq.start_2=12829972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:567,329:732:-835.23,-220.41,-2240.35:99 chr1 12829995 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=651;Dels=0.00;HRun=0;HaplotypeScore=39.77;MQ=67.94;MQ0=16;OQ=982.57;QD=1.51;SB=772.53;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.735A>T;refseq.codingCoordStr_2=c.735A>T;refseq.codonCoord_1=245;refseq.codonCoord_2=245;refseq.end_1=12829995;refseq.end_2=12829995;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=830;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E245D;refseq.proteinCoordStr_2=p.E245D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-148;refseq.spliceDist_2=-173;refseq.start_1=12829995;refseq.start_2=12829995;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:566,83:597:-281.32,-179.78,-2143.22:99 chr1 12830364 rs1737104 T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=225;Dels=0.00;HRun=2;HaplotypeScore=2.56;MQ=69.88;MQ0=14;OQ=929.50;QD=4.13;SB=324.10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.366A>G;refseq.codingCoordStr_2=c.366A>G;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=12830364;refseq.end_2=12830364;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=592;refseq.mrnaCoord_2=461;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G122G;refseq.proteinCoordStr_2=p.G122G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-517;refseq.spliceDist_2=461;refseq.start_1=12830364;refseq.start_2=12830364;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:178,47:200:-156.47,-60.23,-676.77:99 chr1 12830368 rs1737105 T C 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=66.21;MQ0=15;OQ=1271.07;QD=5.91;SB=278.95;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.362A>G;refseq.codingCoordStr_2=c.362A>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=12830368;refseq.end_2=12830368;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=588;refseq.mrnaCoord_2=457;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D121G;refseq.proteinCoordStr_2=p.D121G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-521;refseq.spliceDist_2=457;refseq.start_1=12830368;refseq.start_2=12830368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=gatk GT:AD:DP:GL:GQ 0/1:161,54:189:-187.31,-56.92,-596.84:99 chr1 12830385 . A C 2546.90 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=0;HaplotypeScore=23.53;MQ=60.10;MQ0=4;QD=11.32;SB=87.72;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.345T>G;refseq.codingCoordStr_2=c.345T>G;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=12830385;refseq.end_2=12830385;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=440;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F115L;refseq.proteinCoordStr_2=p.F115L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=526;refseq.spliceDist_2=440;refseq.start_1=12830385;refseq.start_2=12830385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:133,92:196:-316.99,-59.02,-473.61:99 chr1 12830389 . C T 3923.41 SnpCluster AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=26.54;MQ=59.52;MQ0=3;QD=16.91;SB=-120.58;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.341G>A;refseq.codingCoordStr_2=c.341G>A;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=12830389;refseq.end_2=12830389;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=567;refseq.mrnaCoord_2=436;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G114D;refseq.proteinCoordStr_2=p.G114D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=522;refseq.spliceDist_2=436;refseq.start_1=12830389;refseq.start_2=12830389;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:132,100:214:-391.34,-64.44,-491.71:99 chr1 12830390 . C T 4141.55 SnpCluster AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=0;HaplotypeScore=26.54;MQ=59.02;MQ0=3;QD=17.47;SB=-95.60;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.340G>A;refseq.codingCoordStr_2=c.340G>A;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=12830390;refseq.end_2=12830390;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=435;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G114S;refseq.proteinCoordStr_2=p.G114S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=521;refseq.spliceDist_2=435;refseq.start_1=12830390;refseq.start_2=12830390;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:133,104:217:-413.15,-65.35,-489.79:99 chr1 12830424 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=65.65;MQ0=3;OQ=11961.16;QD=27.37;RankSumP=0.484447;SB=-2665.52;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.306G>A;refseq.codingCoordStr_2=c.306G>A;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.end_1=12830424;refseq.end_2=12830424;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=532;refseq.mrnaCoord_2=401;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A102A;refseq.proteinCoordStr_2=p.A102A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=487;refseq.spliceDist_2=401;refseq.start_1=12830424;refseq.start_2=12830424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr1 12830472 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=685;Dels=0.00;HRun=1;HaplotypeScore=11.84;MQ=60.52;MQ0=11;OQ=6762.73;QD=9.87;RankSumP=0.495582;SB=-2141.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.258A>G;refseq.codingCoordStr_2=c.258A>G;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=12830472;refseq.end_2=12830472;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=353;refseq.name2_1=HNRNPCL1;refseq.name2_2=LOC649330;refseq.name_1=NM_001013631;refseq.name_2=NM_001146181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A86A;refseq.proteinCoordStr_2=p.A86A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=439;refseq.spliceDist_2=353;refseq.start_1=12830472;refseq.start_2=12830472;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 12842581 . A C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.430335;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.734A>C;refseq.codonCoord=245;refseq.end=12842581;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_023014;refseq.name2=PRAMEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y245S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-133;refseq.start=12842581;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr1 12844086 . C G 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.404040;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1290C>G;refseq.codonCoord=430;refseq.end=12844086;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_023014;refseq.name2=PRAMEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F430L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-266;refseq.start=12844086;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap GT 1/0 chr1 12844126 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.518717;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1330T>G;refseq.codonCoord=444;refseq.end=12844126;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1417;refseq.name=NM_023014;refseq.name2=PRAMEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F444V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-226;refseq.start=12844126;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr1 12844187 . C T 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1391C>T;refseq.codonCoord=464;refseq.end=12844187;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1478;refseq.name=NM_023014;refseq.name2=PRAMEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P464L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-165;refseq.start=12844187;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr1 12862097 . C T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.166667;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1292G>A;refseq.codonCoord=431;refseq.end=12862097;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S431N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=417;refseq.start=12862097;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr1 12862135 . G C 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1254C>G;refseq.codonCoord=418;refseq.end=12862135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P418P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=379;refseq.start=12862135;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 0/1 chr1 12862491 . A C 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.898T>G;refseq.codonCoord=300;refseq.end=12862491;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F300V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=23;refseq.start=12862491;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 0/1 chr1 12864706 . C T 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=1305;Dels=0.00;HRun=1;HaplotypeScore=33.78;MQ=18.46;MQ0=531;OQ=11889.79;QD=9.11;RankSumP=1.00000;SB=-3501.82;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.431G>A;refseq.codonCoord=144;refseq.end=12864706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=502;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R144K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=138;refseq.start=12864706;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 12864760 . C G 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.377G>C;refseq.codonCoord=126;refseq.end=12864760;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C126S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=84;refseq.start=12864760;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr1 12864766 . T C 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.632576;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.371A>G;refseq.codonCoord=124;refseq.end=12864766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_001009611;refseq.name2=PRAMEF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H124R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=78;refseq.start=12864766;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 1/0 chr1 12875383 . T G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.466667;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1376A>C;refseq.codonCoord=459;refseq.end=12875383;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N459T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-70;refseq.start=12875383;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr1 12875431 . T C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.166667;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1328A>G;refseq.codonCoord=443;refseq.end=12875431;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E443G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-118;refseq.start=12875431;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr1 12875555 rs1736772 C G 12.86 LowQual AC=1;AF=0.50;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=70.00;MQ0=1;QD=6.43;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1204G>C;refseq.codonCoord=402;refseq.end=12875555;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G402R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-242;refseq.start=12875555;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,1:1:-4.55,-0.30,-0.00:1.76 chr1 12875747 . C G 19.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=0;HaplotypeScore=12.25;MQ=1.17;MQ0=289;QD=0.07;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1012G>C;refseq.codonCoord=338;refseq.end=12875747;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E338Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=146;refseq.start=12875747;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:270,20:1:-5.19,-0.30,-0.00:1.76 chr1 12877046 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.824A>G;refseq.codonCoord=275;refseq.end=12877046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K275R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-43;refseq.start=12877046;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr1 12877063 . G A 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.539394;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.807C>T;refseq.codonCoord=269;refseq.end=12877063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P269P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-60;refseq.start=12877063;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr1 12877112 . C T 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.758G>A;refseq.codonCoord=253;refseq.end=12877112;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.W253*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-109;refseq.start=12877112;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 0/1 chr1 12877535 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.335T>C;refseq.codonCoord=112;refseq.end=12877535;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F112S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=48;refseq.start=12877535;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/1 chr1 12878048 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.352587;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.218T>C;refseq.codonCoord=73;refseq.end=12878048;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L73P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-70;refseq.start=12878048;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 0/1 chr1 12878079 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0603825;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.187A>C;refseq.codonCoord=63;refseq.end=12878079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S63R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-101;refseq.start=12878079;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 1/0 chr1 12878123 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.423888;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.143G>A;refseq.codonCoord=48;refseq.end=12878123;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R48H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-145;refseq.start=12878123;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr1 12878135 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.143383;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.131T>C;refseq.codonCoord=44;refseq.end=12878135;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_001039361;refseq.name2=PRAMEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F44S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=156;refseq.start=12878135;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr1 12902316 . G A 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=534;Dels=0.00;HRun=0;HaplotypeScore=6.17;MQ=8.39;MQ0=484;OQ=248.70;QD=0.47;RankSumP=1.00000;SB=-75.07;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.921G>A;refseq.codingCoordStr_2=c.921G>A;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.end_1=12902316;refseq.end_2=12902316;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1004;refseq.mrnaCoord_2=921;refseq.name2_1=PRAMEF8;refseq.name2_2=PRAMEF7;refseq.name_1=NM_001012276;refseq.name_2=NM_001012277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S307S;refseq.proteinCoordStr_2=p.S307S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=12902316;refseq.start_2=12902316;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=filterInsoap-gatk GT 1/1 chr1 12902415 . A G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.700000;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1020A>G;refseq.codingCoordStr_2=c.1020A>G;refseq.codonCoord_1=340;refseq.codonCoord_2=340;refseq.end_1=12902415;refseq.end_2=12902415;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1103;refseq.mrnaCoord_2=1020;refseq.name2_1=PRAMEF8;refseq.name2_2=PRAMEF7;refseq.name_1=NM_001012276;refseq.name_2=NM_001012277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T340T;refseq.proteinCoordStr_2=p.T340T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=157;refseq.spliceDist_2=157;refseq.start_1=12902415;refseq.start_2=12902415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT 0/1 chr1 12902432 . T C 12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=491;Dels=0.00;HRun=0;HaplotypeScore=18.76;MQ=16.36;MQ0=322;OQ=718.70;QD=1.46;RankSumP=1.00000;SB=-90.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1037T>C;refseq.codingCoordStr_2=c.1037T>C;refseq.codonCoord_1=346;refseq.codonCoord_2=346;refseq.end_1=12902432;refseq.end_2=12902432;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1037;refseq.name2_1=PRAMEF8;refseq.name2_2=PRAMEF7;refseq.name_1=NM_001012276;refseq.name_2=NM_001012277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V346A;refseq.proteinCoordStr_2=p.V346A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=174;refseq.spliceDist_2=174;refseq.start_1=12902432;refseq.start_2=12902432;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/1 chr1 12921380 rs28482402 G A 11.18 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=1756;Dels=0.00;HRun=0;HaplotypeScore=91.80;MQ=0.50;MQ0=1755;QD=0.01;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1143C>T;refseq.codonCoord=381;refseq.end=12921380;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1229;refseq.name=NM_001010889;refseq.name2=PRAMEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N381N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=274;refseq.start=12921380;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1303,453:1:-4.37,-0.30,-0.00:1.76 chr1 12923773 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1752;Dels=0.00;HRun=0;HaplotypeScore=40.69;MQ=4.26;MQ0=1724;OQ=941.49;QD=0.54;RankSumP=0.421098;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.497G>A;refseq.codonCoord=166;refseq.end=12923773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_001010889;refseq.name2=PRAMEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C166Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=210;refseq.start=12923773;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr1 12923899 . C G 10 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2798;Dels=0.00;HRun=1;HaplotypeScore=74.29;MQ=19.24;MQ0=1202;OQ=33492.16;QD=11.97;RankSumP=0.268164;SB=-13969.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.371G>C;refseq.codonCoord=124;refseq.end=12923899;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_001010889;refseq.name2=PRAMEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C124S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=84;refseq.start=12923899;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr1 12924656 rs2994117 G A 12.11 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=196;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=2.00;MQ0=195;QD=0.06;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.280C>T;refseq.codonCoord=94;refseq.end=12924656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_001010889;refseq.name2=PRAMEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H94Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=12924656;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:172,24:1:-4.47,-0.30,-0.00:1.76 chr1 12924897 rs61779383 T C 43.84 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=1616;Dels=0.00;HRun=3;HaplotypeScore=865.82;MQ=0.81;MQ0=1614;QD=0.03;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.39A>G;refseq.codonCoord=13;refseq.end=12924897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_001010889;refseq.name2=PRAMEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=61;refseq.start=12924897;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:905,710:2:-7.79,-0.60,-0.00:6.02 chr1 12958834 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.319T>A;refseq.codonCoord=107;refseq.end=12958834;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.L107M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=12958834;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/0 chr1 12959034 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.519C>G;refseq.codonCoord=173;refseq.end=12959034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.V173V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=226;refseq.start=12959034;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr1 12959174 . C T 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1080;Dels=0.00;HRun=0;HaplotypeScore=27.56;MQ=21.26;MQ0=349;OQ=20257.82;QD=18.76;RankSumP=1.00000;SB=-8995.55;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.659C>T;refseq.codonCoord=220;refseq.end=12959174;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P220L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-214;refseq.start=12959174;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 12959241 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=817;Dels=0.00;HRun=0;HaplotypeScore=10.64;MQ=19.07;MQ0=384;OQ=2240.05;QD=2.74;RankSumP=0.452121;SB=-757.69;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.726C>T;refseq.codonCoord=242;refseq.end=12959241;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=726;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.S242S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-147;refseq.start=12959241;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr1 12959323 . T A 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.808T>A;refseq.codonCoord=270;refseq.end=12959323;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y270N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-65;refseq.start=12959323;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/1 chr1 12960451 . T A 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.929T>A;refseq.codonCoord=310;refseq.end=12960451;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.V310E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=57;refseq.start=12960451;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/1 chr1 12960464 . T C 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.942T>C;refseq.codonCoord=314;refseq.end=12960464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.C314C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=70;refseq.start=12960464;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/1 chr1 12960612 . C G 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1090C>G;refseq.codonCoord=364;refseq.end=12960612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1090;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.R364G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=218;refseq.start=12960612;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/1 chr1 12960615 . G T 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1093G>T;refseq.codonCoord=365;refseq.end=12960615;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.D365Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=221;refseq.start=12960615;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/1 chr1 12960651 rs56088861 T C 0.32 PASS AC=2;AF=1.00;AN=2;DB;DP=612;Dels=0.00;HRun=1;HaplotypeScore=20.49;MQ=2.88;MQ0=597;OQ=266.64;QD=0.44;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1129T>C;refseq.codonCoord=377;refseq.end=12960651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.C377R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=257;refseq.start=12960651;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=gatk GT:AD:DP:GL:GQ 1/1:391,219:8:-30.25,-2.41,-0.00:24.07 chr1 12960706 rs55830102 G C 0.82 PASS AC=2;AF=1.00;AN=2;DB;DP=808;Dels=0.00;HRun=0;HaplotypeScore=17.24;MQ=2.50;MQ0=793;OQ=326.92;QD=0.40;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1184G>C;refseq.codonCoord=395;refseq.end=12960706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1184;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.G395A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-263;refseq.start=12960706;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=gatk GT:AD:DP:GL:GQ 1/1:390,418:8:-36.28,-2.41,-0.00:24.08 chr1 12960762 . T C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1240T>C;refseq.codonCoord=414;refseq.end=12960762;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y414H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-207;refseq.start=12960762;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr1 12960914 . G T 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.732684;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1392G>T;refseq.codonCoord=464;refseq.end=12960914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.T464T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-55;refseq.start=12960914;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr1 12960937 . T C 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.614011;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1415T>C;refseq.codonCoord=472;refseq.end=12960937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1415;refseq.name=NM_001100631;refseq.name2=PRAMEF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.F472S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-32;refseq.start=12960937;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr1 13201474 . C A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.416667;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1392G>T;refseq.codingCoordStr_2=c.1392G>T;refseq.codonCoord_1=464;refseq.codonCoord_2=464;refseq.end_1=13201474;refseq.end_2=13201474;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1413;refseq.mrnaCoord_2=1392;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T464T;refseq.proteinCoordStr_2=p.T464T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=520;refseq.spliceDist_2=-55;refseq.start_1=13201474;refseq.start_2=13201474;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=soap GT 1/0 chr1 13201682 rs55830102 C G 0.26 PASS AC=2;AF=1.00;AN=2;DB;DP=829;Dels=0.00;HRun=0;HaplotypeScore=23.42;MQ=2.85;MQ0=813;OQ=396.82;QD=0.48;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1184G>C;refseq.codingCoordStr_2=c.1184G>C;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.end_1=13201682;refseq.end_2=13201682;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1205;refseq.mrnaCoord_2=1184;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G395A;refseq.proteinCoordStr_2=p.G395A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=312;refseq.spliceDist_2=-263;refseq.start_1=13201682;refseq.start_2=13201682;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=gatk GT:AD:DP:GL:GQ 1/1:406,421:10:-43.27,-3.01,-0.00:30.10 chr1 13201737 rs56088861 A G 0.06 PASS AC=2;AF=1.00;AN=2;DB;DP=604;Dels=0.00;HRun=1;HaplotypeScore=25.00;MQ=3.34;MQ0=587;OQ=396.67;QD=0.66;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1129T>C;refseq.codingCoordStr_2=c.1129T>C;refseq.codonCoord_1=377;refseq.codonCoord_2=377;refseq.end_1=13201737;refseq.end_2=13201737;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1150;refseq.mrnaCoord_2=1129;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C377R;refseq.proteinCoordStr_2=p.C377R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=257;refseq.spliceDist_2=257;refseq.start_1=13201737;refseq.start_2=13201737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=gatk GT:AD:DP:GL:GQ 1/1:362,239:11:-43.25,-3.31,-0.00:33.11 chr1 13201773 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1093G>T;refseq.codingCoordStr_2=c.1093G>T;refseq.codonCoord_1=365;refseq.codonCoord_2=365;refseq.end_1=13201773;refseq.end_2=13201773;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=1093;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D365Y;refseq.proteinCoordStr_2=p.D365Y;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=221;refseq.spliceDist_2=221;refseq.start_1=13201773;refseq.start_2=13201773;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=FilteredInAll GT 1/1 chr1 13201776 . G C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1090C>G;refseq.codingCoordStr_2=c.1090C>G;refseq.codonCoord_1=364;refseq.codonCoord_2=364;refseq.end_1=13201776;refseq.end_2=13201776;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1111;refseq.mrnaCoord_2=1090;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R364G;refseq.proteinCoordStr_2=p.R364G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=218;refseq.spliceDist_2=218;refseq.start_1=13201776;refseq.start_2=13201776;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/1 chr1 13201924 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.942T>C;refseq.codingCoordStr_2=c.942T>C;refseq.codonCoord_1=314;refseq.codonCoord_2=314;refseq.end_1=13201924;refseq.end_2=13201924;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=963;refseq.mrnaCoord_2=942;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C314C;refseq.proteinCoordStr_2=p.C314C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=13201924;refseq.start_2=13201924;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=FilteredInAll GT 1/1 chr1 13201937 rs56101354 A T 40.29 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=11.88;MQ=2.02;MQ0=424;QD=0.09;SB=-45.99;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.929T>A;refseq.codingCoordStr_2=c.929T>A;refseq.codonCoord_1=310;refseq.codonCoord_2=310;refseq.end_1=13201937;refseq.end_2=13201937;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=929;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V310E;refseq.proteinCoordStr_2=p.V310E;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=13201937;refseq.start_2=13201937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:164,256:2:-7.44,-0.60,-0.00:6.02 chr1 13203065 . A T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.808T>A;refseq.codingCoordStr_2=c.808T>A;refseq.codonCoord_1=270;refseq.codonCoord_2=270;refseq.end_1=13203065;refseq.end_2=13203065;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=808;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y270N;refseq.proteinCoordStr_2=p.Y270N;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=13203065;refseq.start_2=13203065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr1 13203193 . A C 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.680T>G;refseq.codingCoordStr_2=c.680T>G;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.end_1=13203193;refseq.end_2=13203193;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=701;refseq.mrnaCoord_2=680;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I227S;refseq.proteinCoordStr_2=p.I227S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-193;refseq.spliceDist_2=-193;refseq.start_1=13203193;refseq.start_2=13203193;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/1 chr1 13203214 . G A 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.659C>T;refseq.codingCoordStr_2=c.659C>T;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.end_1=13203214;refseq.end_2=13203214;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=680;refseq.mrnaCoord_2=659;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P220L;refseq.proteinCoordStr_2=p.P220L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.start_1=13203214;refseq.start_2=13203214;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 1/1 chr1 13203354 . G C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.388455;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.519C>G;refseq.codingCoordStr_2=c.519C>G;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.end_1=13203354;refseq.end_2=13203354;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=540;refseq.mrnaCoord_2=519;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V173V;refseq.proteinCoordStr_2=p.V173V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=226;refseq.spliceDist_2=226;refseq.start_1=13203354;refseq.start_2=13203354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr1 13203471 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.402G>A;refseq.codingCoordStr_2=c.402G>A;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.end_1=13203471;refseq.end_2=13203471;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=402;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R134R;refseq.proteinCoordStr_2=p.R134R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=13203471;refseq.start_2=13203471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 1/1 chr1 13204125 . G T 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.619048;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.134C>A;refseq.codingCoordStr_2=c.134C>A;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.end_1=13204125;refseq.end_2=13204125;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=134;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A45D;refseq.proteinCoordStr_2=p.A45D;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=155;refseq.spliceDist_2=134;refseq.start_1=13204125;refseq.start_2=13204125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=soap GT 0/1 chr1 13204132 . C T 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.100000;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.127G>A;refseq.codingCoordStr_2=c.127G>A;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=13204132;refseq.end_2=13204132;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=148;refseq.mrnaCoord_2=127;refseq.name2_1=PRAMEF3;refseq.name2_2=PRAMEF22;refseq.name_1=NM_001013692;refseq.name_2=NM_001100631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V43M;refseq.proteinCoordStr_2=p.V43M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=148;refseq.spliceDist_2=127;refseq.start_1=13204132;refseq.start_2=13204132;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap GT 0/1 chr1 13237491 . C T 10.16 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1401;Dels=0.00;HRun=1;HaplotypeScore=30.18;MQ=0.61;MQ0=1400;QD=0.01;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.14C>T;refseq.codingCoordStr_2=c.14C>T;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=13237491;refseq.end_2=13237491;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=100;refseq.mrnaCoord_2=114;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T5I;refseq.proteinCoordStr_2=p.T5I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=13237491;refseq.start_2=13237491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1329,71:1:-4.26,-0.30,-0.00:1.76 chr1 13237513 . T G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0767677;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.36T>G;refseq.codingCoordStr_2=c.36T>G;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=13237513;refseq.end_2=13237513;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=122;refseq.mrnaCoord_2=136;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L12L;refseq.proteinCoordStr_2=p.L12L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=13237513;refseq.start_2=13237513;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=soap GT 1/0 chr1 13237516 . A G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.727273;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.39A>G;refseq.codingCoordStr_2=c.39A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=13237516;refseq.end_2=13237516;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=125;refseq.mrnaCoord_2=139;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A13A;refseq.proteinCoordStr_2=p.A13A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=13237516;refseq.start_2=13237516;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=soap GT 0/1 chr1 13238508 . A G 15 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.365A>G;refseq.codingCoordStr_2=c.365A>G;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=13238508;refseq.end_2=13238508;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=451;refseq.mrnaCoord_2=465;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H122R;refseq.proteinCoordStr_2=p.H122R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=13238508;refseq.start_2=13238508;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT 1/1 chr1 13238514 . G C 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.529412;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.371G>C;refseq.codingCoordStr_2=c.371G>C;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=13238514;refseq.end_2=13238514;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=471;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C124S;refseq.proteinCoordStr_2=p.C124S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.start_1=13238514;refseq.start_2=13238514;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 0/1 chr1 13238640 rs7419099 G A 42.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=950;Dels=0.00;HRun=0;HaplotypeScore=33.35;MQ=1.03;MQ0=948;QD=0.04;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.497G>A;refseq.codingCoordStr_2=c.497G>A;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.end_1=13238640;refseq.end_2=13238640;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=583;refseq.mrnaCoord_2=597;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C166Y;refseq.proteinCoordStr_2=p.C166Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=210;refseq.spliceDist_2=210;refseq.start_1=13238640;refseq.start_2=13238640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:863,85:2:-7.61,-0.60,-0.00:6.02 chr1 13241032 . C T 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1143C>T;refseq.codingCoordStr_2=c.1143C>T;refseq.codonCoord_1=381;refseq.codonCoord_2=381;refseq.end_1=13241032;refseq.end_2=13241032;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1229;refseq.mrnaCoord_2=1243;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N381N;refseq.proteinCoordStr_2=p.N381N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=274;refseq.spliceDist_2=274;refseq.start_1=13241032;refseq.start_2=13241032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 1/1 chr1 13241033 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1144A>G;refseq.codingCoordStr_2=c.1144A>G;refseq.codonCoord_1=382;refseq.codonCoord_2=382;refseq.end_1=13241033;refseq.end_2=13241033;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1244;refseq.name2_1=PRAMEF6;refseq.name2_2=PRAMEF5;refseq.name_1=NM_001010889;refseq.name_2=NM_001013407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T382A;refseq.proteinCoordStr_2=p.T382A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=275;refseq.spliceDist_2=275;refseq.start_1=13241033;refseq.start_2=13241033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/1 chr1 13296661 rs2933094 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=1123;Dels=0.00;HRun=1;HaplotypeScore=45.18;MQ=1.09;MQ0=1120;OQ=90.01;QD=0.08;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.72T>C;refseq.codingCoordStr_2=c.72T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=13296661;refseq.end_2=13296661;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=166;refseq.mrnaCoord_2=166;refseq.name2_1=PRAMEF9;refseq.name2_2=PRAMEF15;refseq.name_1=NM_001010890;refseq.name_2=NM_001098376;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A24A;refseq.proteinCoordStr_2=p.A24A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=13296661;refseq.start_2=13296661;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:778,343:3:-12.49,-0.90,-0.00:9.03 chr1 13296875 rs2994117 C T 11.07 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=448;Dels=0.00;HRun=2;HaplotypeScore=79.35;MQ=1.42;MQ0=447;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.286C>T;refseq.codingCoordStr_2=c.286C>T;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=13296875;refseq.end_2=13296875;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=380;refseq.mrnaCoord_2=380;refseq.name2_1=PRAMEF9;refseq.name2_2=PRAMEF15;refseq.name_1=NM_001010890;refseq.name_2=NM_001098376;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R96C;refseq.proteinCoordStr_2=p.R96C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=13296875;refseq.start_2=13296875;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:282,163:1:-4.36,-0.30,-0.00:1.76 chr1 13297664 rs2153358 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=1045;Dels=0.00;HRun=0;HaplotypeScore=31.50;MQ=1.80;MQ0=1040;OQ=153.26;QD=0.15;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.404A>C;refseq.codingCoordStr_2=c.404A>C;refseq.codonCoord_1=135;refseq.codonCoord_2=135;refseq.end_1=13297664;refseq.end_2=13297664;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=498;refseq.mrnaCoord_2=498;refseq.name2_1=PRAMEF9;refseq.name2_2=PRAMEF15;refseq.name_1=NM_001010890;refseq.name_2=NM_001098376;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K135T;refseq.proteinCoordStr_2=p.K135T;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.start_1=13297664;refseq.start_2=13297664;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:918,126:5:-18.89,-1.51,-0.00:15.05 chr1 13297697 rs2488535 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1624;Dels=0.00;HRun=0;HaplotypeScore=40.72;MQ=1.73;MQ0=1616;OQ=61.09;QD=0.04;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.437G>A;refseq.codingCoordStr_2=c.437G>A;refseq.codonCoord_1=146;refseq.codonCoord_2=146;refseq.end_1=13297697;refseq.end_2=13297697;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=531;refseq.mrnaCoord_2=531;refseq.name2_1=PRAMEF9;refseq.name2_2=PRAMEF15;refseq.name_1=NM_001010890;refseq.name_2=NM_001098376;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R146Q;refseq.proteinCoordStr_2=p.R146Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=144;refseq.spliceDist_2=144;refseq.start_1=13297697;refseq.start_2=13297697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1481,139:8:-11.80,-2.41,-18.88:93.92 chr1 13320707 rs61745371 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=59.93;MQ=2.84;MQ0=406;OQ=110.95;QD=0.27;SB=-3.98;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1211T>C;refseq.codonCoord=404;refseq.end=13320707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.I404T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=489;refseq.start=13320707;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:388,24:6:-16.19,-1.81,-8.01:62.05 chr1 13320767 rs61738672 A G 22.49 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=622;Dels=0.00;HRun=3;HaplotypeScore=24.98;MQ=2.37;MQ0=613;QD=0.04;SB=2.04;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1151T>C;refseq.codonCoord=384;refseq.end=13320767;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L384P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=429;refseq.start=13320767;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:599,22:6:-7.34,-1.81,-17.17:55.31 chr1 13320771 rs6700727 C T 25.22 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=623;Dels=0.00;HRun=0;HaplotypeScore=62.17;MQ=2.47;MQ0=614;QD=0.04;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1147G>A;refseq.codonCoord=383;refseq.end=13320771;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1330;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A383T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=425;refseq.start=13320771;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:602,20:6:-7.61,-1.81,-16.27:58.05 chr1 13320772 rs2142947 G C 39.04 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=634;Dels=0.00;HRun=1;HaplotypeScore=63.16;MQ=2.45;MQ0=625;QD=0.06;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1146C>G;refseq.codonCoord=382;refseq.end=13320772;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.F382L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=424;refseq.start=13320772;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:612,22:6:-8.99,-1.81,-18.17:71.87 chr1 13320786 . C T 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=655;Dels=0.00;HRun=1;HaplotypeScore=17.90;MQ=1.49;MQ0=650;OQ=52.02;QD=0.08;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1132G>A;refseq.codonCoord=378;refseq.end=13320786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1315;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D378N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=410;refseq.start=13320786;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 13320870 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=575;Dels=0.00;HRun=0;HaplotypeScore=15.63;MQ=23.15;MQ0=205;OQ=14322.39;QD=24.91;RankSumP=1.00000;SB=-5955.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1048T>C;refseq.codonCoord=350;refseq.end=13320870;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1231;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L350L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=326;refseq.start=13320870;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 13320938 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=714;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=11.40;MQ0=671;OQ=1044.50;QD=1.46;RankSumP=1.00000;SB=-213.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.980A>G;refseq.codonCoord=327;refseq.end=13320938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.H327R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=258;refseq.start=13320938;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 13321134 rs1063787 T C 174.22 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=1080;Dels=0.00;HRun=0;HaplotypeScore=14.10;MQ=2.04;MQ0=1075;QD=0.16;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.784A>G;refseq.codonCoord=262;refseq.end=13321134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.M262V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=62;refseq.start=13321134;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:533,547:5:-20.98,-1.51,-0.00:15.05 chr1 13321135 . G A 161.19 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=1061;Dels=0.00;HRun=0;HaplotypeScore=13.68;MQ=2.06;MQ0=1056;QD=0.15;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.783C>T;refseq.codonCoord=261;refseq.end=13321135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D261D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=61;refseq.start=13321135;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:521,535:5:-19.68,-1.51,-0.00:15.05 chr1 13321138 rs1063786 T C 164.22 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=1034;Dels=0.00;HRun=1;HaplotypeScore=16.92;MQ=2.09;MQ0=1029;QD=0.16;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.780A>G;refseq.codonCoord=260;refseq.end=13321138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E260E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=58;refseq.start=13321138;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:504,529:5:-19.98,-1.51,-0.00:15.05 chr1 13322310 . G C 15.75 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1113;Dels=0.00;HRun=1;HaplotypeScore=23.26;MQ=0.72;MQ0=1112;QD=0.01;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.703C>G;refseq.codonCoord=235;refseq.end=13322310;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R235G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-20;refseq.start=13322310;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:589,522:1:-4.85,-0.30,-0.00:1.76 chr1 13322388 rs61778604 G C -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=1015;Dels=0.00;HRun=0;HaplotypeScore=128.08;MQ=1.84;MQ0=1011;OQ=141.54;QD=0.14;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.625C>G;refseq.codonCoord=209;refseq.end=13322388;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q209E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-98;refseq.start=13322388;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:566,80:4:-17.69,-1.20,-0.00:12.04 chr1 13322684 . T C 10.53 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=612;Dels=0.00;HRun=1;HaplotypeScore=50.17;MQ=1.09;MQ0=611;QD=0.02;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.329A>G;refseq.codonCoord=110;refseq.end=13322684;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=42;refseq.start=13322684;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:580,32:1:-4.30,-0.30,-0.00:1.76 chr1 13323385 rs1063756 T C 0.03 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=708;Dels=0.00;HRun=3;HaplotypeScore=15.20;MQ=2.83;MQ0=700;OQ=227.94;QD=0.32;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.39A>G;refseq.codonCoord=13;refseq.end=13323385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_001099854;refseq.name2=PRAMEF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=144;refseq.start=13323385;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:354,354:7:-26.37,-2.11,-0.00:21.07 chr1 13370159 . G A 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=300;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=4.95;MQ0=281;OQ=436.17;QD=1.45;RankSumP=1.00000;SB=-133.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.869G>A;refseq.codonCoord=290;refseq.end=13370159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_001045480;refseq.name2=PRAMEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.C290Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=13370159;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 13370171 . C T 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=388;Dels=0.00;HRun=0;HaplotypeScore=11.55;MQ=4.35;MQ0=369;OQ=461.61;QD=1.19;RankSumP=1.00000;SB=-144.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.881C>T;refseq.codonCoord=294;refseq.end=13370171;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_001045480;refseq.name2=PRAMEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P294L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=15;refseq.start=13370171;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 13370213 . A G 14 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=25;DP=539;Dels=0.00;HRun=2;HaplotypeScore=6.32;MQ=3.08;MQ0=529;OQ=57.40;QD=0.11;RankSumP=1.00000;SB=-27.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.923A>G;refseq.codonCoord=308;refseq.end=13370213;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_001045480;refseq.name2=PRAMEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q308R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=57;refseq.start=13370213;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/1 chr1 13370267 . A G 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.977A>G;refseq.codonCoord=326;refseq.end=13370267;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_001045480;refseq.name2=PRAMEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H326R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=111;refseq.start=13370267;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/1 chr1 13370292 . T C 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1002T>C;refseq.codonCoord=334;refseq.end=13370292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_001045480;refseq.name2=PRAMEF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T334T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=136;refseq.start=13370292;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/1 chr1 13394608 . C G 0.03 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=520;Dels=0.00;HRun=0;HaplotypeScore=8.11;MQ=1.90;MQ0=517;OQ=57.30;QD=0.11;SB=-53.92;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.49C>G;refseq.codingCoordStr_2=c.49C>G;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=13394608;refseq.end_2=13394608;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=148;refseq.mrnaCoord_2=59;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L17V;refseq.proteinCoordStr_2=p.L17V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=53;refseq.spliceDist_2=59;refseq.start_1=13394608;refseq.start_2=13394608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:491,29:2:-9.14,-0.60,-0.00:6.02 chr1 13394620 . G C 19.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=441;Dels=0.00;HRun=1;HaplotypeScore=39.04;MQ=1.48;MQ0=439;QD=0.04;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.61G>C;refseq.codingCoordStr_2=c.61G>C;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=13394620;refseq.end_2=13394620;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=160;refseq.mrnaCoord_2=71;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E21Q;refseq.proteinCoordStr_2=p.E21Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=65;refseq.spliceDist_2=71;refseq.start_1=13394620;refseq.start_2=13394620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:422,18:1:-5.19,-0.30,-0.00:1.76 chr1 13394622 . G A 10.16 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=431;Dels=0.00;HRun=1;HaplotypeScore=38.20;MQ=1.50;MQ0=429;QD=0.02;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.63G>A;refseq.codingCoordStr_2=c.63G>A;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=13394622;refseq.end_2=13394622;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=162;refseq.mrnaCoord_2=73;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E21E;refseq.proteinCoordStr_2=p.E21E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=67;refseq.spliceDist_2=73;refseq.start_1=13394622;refseq.start_2=13394622;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:418,12:1:-4.26,-0.30,-0.00:1.76 chr1 13541562 rs61745371 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=43.89;MQ=2.60;MQ0=468;OQ=114.95;QD=0.24;SB=-3.98;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1355T>C;refseq.codingCoordStr_2=c.1211T>C;refseq.codonCoord_1=452;refseq.codonCoord_2=404;refseq.end_1=13541562;refseq.end_2=13541562;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1458;refseq.mrnaCoord_2=1394;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I452T;refseq.proteinCoordStr_2=p.I404T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=489;refseq.spliceDist_2=489;refseq.start_1=13541562;refseq.start_2=13541562;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:450,24:6:-16.59,-1.81,-8.51:67.05 chr1 13541622 rs61738672 A G 20.51 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=723;Dels=0.00;HRun=3;HaplotypeScore=22.66;MQ=2.16;MQ0=715;QD=0.03;SB=2.04;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1295T>C;refseq.codingCoordStr_2=c.1151T>C;refseq.codonCoord_1=432;refseq.codonCoord_2=384;refseq.end_1=13541622;refseq.end_2=13541622;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1398;refseq.mrnaCoord_2=1334;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L432P;refseq.proteinCoordStr_2=p.L384P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=429;refseq.spliceDist_2=429;refseq.start_1=13541622;refseq.start_2=13541622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:715,7:6:-7.14,-1.81,-17.17:53.31 chr1 13541989 rs1063787 T C 135.51 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=941;Dels=0.00;HRun=0;HaplotypeScore=43.50;MQ=1.96;MQ0=937;QD=0.14;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.928A>G;refseq.codingCoordStr_2=c.784A>G;refseq.codonCoord_1=310;refseq.codonCoord_2=262;refseq.end_1=13541989;refseq.end_2=13541989;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1031;refseq.mrnaCoord_2=967;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M310V;refseq.proteinCoordStr_2=p.M262V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=13541989;refseq.start_2=13541989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:481,457:4:-17.08,-1.20,-0.00:12.04 chr1 13541990 . G A 125.88 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=930;Dels=0.00;HRun=0;HaplotypeScore=47.08;MQ=1.97;MQ0=926;QD=0.14;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.927C>T;refseq.codingCoordStr_2=c.783C>T;refseq.codonCoord_1=309;refseq.codonCoord_2=261;refseq.end_1=13541990;refseq.end_2=13541990;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1030;refseq.mrnaCoord_2=966;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D309D;refseq.proteinCoordStr_2=p.D261D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=13541990;refseq.start_2=13541990;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:470,455:4:-16.12,-1.20,-0.00:12.04 chr1 13541993 rs1063786 T C 129.51 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=920;Dels=0.00;HRun=1;HaplotypeScore=46.34;MQ=1.98;MQ0=916;QD=0.14;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.924A>G;refseq.codingCoordStr_2=c.780A>G;refseq.codonCoord_1=308;refseq.codonCoord_2=260;refseq.end_1=13541993;refseq.end_2=13541993;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1027;refseq.mrnaCoord_2=963;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E308E;refseq.proteinCoordStr_2=p.E260E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=13541993;refseq.start_2=13541993;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:469,451:4:-16.48,-1.20,-0.00:12.04 chr1 13543165 . G C 16.73 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1138;Dels=0.00;HRun=1;HaplotypeScore=24.55;MQ=0.74;MQ0=1137;QD=0.01;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.703C>G;refseq.codingCoordStr_2=c.703C>G;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.end_1=13543165;refseq.end_2=13543165;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=806;refseq.mrnaCoord_2=886;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R235G;refseq.proteinCoordStr_2=p.R235G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-164;refseq.spliceDist_2=-20;refseq.start_1=13543165;refseq.start_2=13543165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:619,518:1:-4.95,-0.30,-0.00:1.76 chr1 13543243 rs61778604 G C 14.78 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=918;Dels=0.00;HRun=0;HaplotypeScore=95.22;MQ=0.93;MQ0=914;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.625C>G;refseq.codingCoordStr_2=c.625C>G;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.end_1=13543243;refseq.end_2=13543243;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=728;refseq.mrnaCoord_2=808;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q209E;refseq.proteinCoordStr_2=p.Q209E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-242;refseq.spliceDist_2=-98;refseq.start_1=13543243;refseq.start_2=13543243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:498,82:1:-4.75,-0.30,-0.00:1.76 chr1 13543364 rs1856642 A G 0.09 PASS AC=2;AF=1.00;AN=2;DB;DP=838;Dels=0.00;HRun=1;HaplotypeScore=24.01;MQ=1.36;MQ0=834;OQ=80.17;QD=0.10;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.504T>C;refseq.codingCoordStr_2=c.504T>C;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.end_1=13543364;refseq.end_2=13543364;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=607;refseq.mrnaCoord_2=687;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F168F;refseq.proteinCoordStr_2=p.F168F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=217;refseq.spliceDist_2=217;refseq.start_1=13543364;refseq.start_2=13543364;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=gatk GT:AD:DP:GL:GQ 1/1:604,234:3:-11.51,-0.90,-0.00:9.03 chr1 13543456 rs61778607 A G 10.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=860;Dels=0.00;HRun=1;HaplotypeScore=23.16;MQ=0.92;MQ0=859;QD=0.01;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.412T>C;refseq.codingCoordStr_2=c.412T>C;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.end_1=13543456;refseq.end_2=13543456;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=595;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C138R;refseq.proteinCoordStr_2=p.C138R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=125;refseq.spliceDist_2=125;refseq.start_1=13543456;refseq.start_2=13543456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:493,367:1:-4.27,-0.30,-0.00:1.76 chr1 13543541 rs1063762 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=640;Dels=0.00;HRun=0;HaplotypeScore=44.90;MQ=1.87;MQ0=637;OQ=72.17;QD=0.11;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.327T>C;refseq.codingCoordStr_2=c.327T>C;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=13543541;refseq.end_2=13543541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=430;refseq.mrnaCoord_2=510;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D109D;refseq.proteinCoordStr_2=p.D109D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=13543541;refseq.start_2=13543541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:560,79:3:-10.71,-0.90,-0.00:9.03 chr1 13544125 rs4083405 G C 19.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=794;Dels=0.00;HRun=0;HaplotypeScore=16.26;MQ=1.06;MQ0=793;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.154C>G;refseq.codingCoordStr_2=c.154C>G;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.end_1=13544125;refseq.end_2=13544125;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=257;refseq.mrnaCoord_2=337;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L52V;refseq.proteinCoordStr_2=p.L52V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-134;refseq.spliceDist_2=-134;refseq.start_1=13544125;refseq.start_2=13544125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:494,300:1:-5.19,-0.30,-0.00:1.76 chr1 13544240 rs1063756 T C 0.04 PASS AC=2;AF=1.00;AN=2;DB;DP=688;Dels=0.00;HRun=3;HaplotypeScore=11.57;MQ=3.39;MQ0=678;OQ=308.81;QD=0.45;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.39A>G;refseq.codingCoordStr_2=c.39A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=13544240;refseq.end_2=13544240;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=142;refseq.mrnaCoord_2=222;refseq.name2_1=PRAMEF13;refseq.name2_2=PRAMEF14;refseq.name_1=NM_001024661;refseq.name_2=NM_001099854;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A13A;refseq.proteinCoordStr_2=p.A13A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=64;refseq.spliceDist_2=144;refseq.start_1=13544240;refseq.start_2=13544240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=gatk GT:AD:DP:GL:GQ 1/1:326,362:9:-34.47,-2.71,-0.00:27.09 chr1 13568374 . C G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1246;Dels=0.00;HRun=0;HaplotypeScore=31.09;MQ=2.07;MQ0=1227;OQ=255.83;QD=0.21;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1178G>C;refseq.codingCoordStr_2=c.1178G>C;refseq.codonCoord_1=393;refseq.codonCoord_2=393;refseq.end_1=13568374;refseq.end_2=13568374;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1225;refseq.mrnaCoord_2=1225;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G393A;refseq.proteinCoordStr_2=p.G393A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=312;refseq.spliceDist_2=312;refseq.start_1=13568374;refseq.start_2=13568374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap-filterIngatk GT 1/1 chr1 13568403 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1435;Dels=0.00;HRun=3;HaplotypeScore=45.64;MQ=10.36;MQ0=1192;OQ=6060.87;QD=4.22;RankSumP=1.00000;SB=-922.74;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1149C>T;refseq.codingCoordStr_2=c.1149C>T;refseq.codonCoord_1=383;refseq.codonCoord_2=383;refseq.end_1=13568403;refseq.end_2=13568403;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1196;refseq.mrnaCoord_2=1196;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C383C;refseq.proteinCoordStr_2=p.C383C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=283;refseq.spliceDist_2=283;refseq.start_1=13568403;refseq.start_2=13568403;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap-filterIngatk GT 1/1 chr1 13568561 . T C 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=762;Dels=0.00;HRun=0;HaplotypeScore=32.48;MQ=16.33;MQ0=730;OQ=1098.09;QD=1.44;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.991A>G;refseq.codingCoordStr_2=c.991A>G;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=13568561;refseq.end_2=13568561;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1038;refseq.mrnaCoord_2=1038;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T331A;refseq.proteinCoordStr_2=p.T331A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=125;refseq.spliceDist_2=125;refseq.start_1=13568561;refseq.start_2=13568561;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=soap-filterIngatk GT 1/1 chr1 13568609 rs2359294 A G 0.02 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=451;Dels=0.00;HRun=3;HaplotypeScore=3.97;MQ=8.99;MQ0=442;OQ=320.31;QD=0.71;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.943T>C;refseq.codingCoordStr_2=c.943T>C;refseq.codonCoord_1=315;refseq.codonCoord_2=315;refseq.end_1=13568609;refseq.end_2=13568609;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=990;refseq.mrnaCoord_2=990;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W315R;refseq.proteinCoordStr_2=p.W315R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=13568609;refseq.start_2=13568609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:369,82:9:-35.62,-2.71,-0.00:27.09 chr1 13568616 rs2359295 A G 0.07 PASS AC=2;AF=1.00;AN=2;DB;DP=438;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=7.80;MQ0=430;OQ=260.64;QD=0.60;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.936T>C;refseq.codingCoordStr_2=c.936T>C;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=13568616;refseq.end_2=13568616;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=983;refseq.mrnaCoord_2=983;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C312C;refseq.proteinCoordStr_2=p.C312C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=13568616;refseq.start_2=13568616;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=gatk GT:AD:DP:GL:GQ 1/1:372,66:8:-29.65,-2.41,-0.00:24.07 chr1 13568634 rs2101624 A T 0.24 PASS AC=2;AF=1.00;AN=2;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=6.78;MQ=5.53;MQ0=380;OQ=223.20;QD=0.58;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.918T>A;refseq.codingCoordStr_2=c.918T>A;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.end_1=13568634;refseq.end_2=13568634;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=965;refseq.mrnaCoord_2=965;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D306E;refseq.proteinCoordStr_2=p.D306E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=13568634;refseq.start_2=13568634;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=gatk GT:AD:DP:GL:GQ 1/1:346,40:6:-25.89,-1.81,-0.00:18.06 chr1 13568641 rs2101625 G A 0.76 PASS AC=2;AF=1.00;AN=2;DB;DP=343;Dels=0.00;HRun=1;HaplotypeScore=12.97;MQ=5.86;MQ0=337;OQ=219.62;QD=0.64;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.911C>T;refseq.codingCoordStr_2=c.911C>T;refseq.codonCoord_1=304;refseq.codonCoord_2=304;refseq.end_1=13568641;refseq.end_2=13568641;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=958;refseq.mrnaCoord_2=958;refseq.name2_1=PRAMEF19;refseq.name2_2=PRAMEF18;refseq.name_1=NM_001099790;refseq.name_2=NM_001099850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S304F;refseq.proteinCoordStr_2=p.S304F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=13568641;refseq.start_2=13568641;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=gatk GT:AD:DP:GL:GQ 1/1:321,22:6:-25.53,-1.81,-0.00:18.06 chr1 13615447 . C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=517;Dels=0.00;HRun=0;HaplotypeScore=34.72;MQ=2.64;MQ0=513;OQ=106.98;QD=0.21;SB=-56.93;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.49C>G;refseq.codingCoordStr_2=c.49C>G;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=13615447;refseq.end_2=13615447;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=148;refseq.mrnaCoord_2=59;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L17V;refseq.proteinCoordStr_2=p.L17V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=53;refseq.spliceDist_2=59;refseq.start_1=13615447;refseq.start_2=13615447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:488,29:3:-14.19,-0.90,-0.00:9.03 chr1 13615459 . G C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=447;Dels=0.00;HRun=1;HaplotypeScore=34.62;MQ=2.46;MQ0=444;OQ=66.76;QD=0.15;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.61G>C;refseq.codingCoordStr_2=c.61G>C;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=13615459;refseq.end_2=13615459;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=160;refseq.mrnaCoord_2=71;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E21Q;refseq.proteinCoordStr_2=p.E21Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=65;refseq.spliceDist_2=71;refseq.start_1=13615459;refseq.start_2=13615459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:428,18:2:-10.08,-0.60,-0.00:6.02 chr1 13615461 . G A 48.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=441;Dels=0.00;HRun=1;HaplotypeScore=35.72;MQ=2.47;MQ0=438;QD=0.11;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.63G>A;refseq.codingCoordStr_2=c.63G>A;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=13615461;refseq.end_2=13615461;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=162;refseq.mrnaCoord_2=73;refseq.name2_1=PRAMEF20;refseq.name2_2=PRAMEF21;refseq.name_1=NM_001099852;refseq.name_2=NM_001100114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E21E;refseq.proteinCoordStr_2=p.E21E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=67;refseq.spliceDist_2=73;refseq.start_1=13615461;refseq.start_2=13615461;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:426,13:2:-8.21,-0.60,-0.00:6.02 chr1 13813451 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=548;Dels=0.00;HRun=1;HaplotypeScore=14.30;MQ=98.83;MQ0=0;OQ=23090.12;QD=42.14;RankSumP=1.00000;SB=-9891.95;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.314C>G;refseq.codingCoordStr_2=c.314C>G;refseq.codingCoordStr_3=c.668C>G;refseq.codingCoordStr_4=c.668C>G;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=223;refseq.codonCoord_4=223;refseq.end_1=13813451;refseq.end_2=13813451;refseq.end_3=13813451;refseq.end_4=13813451;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=541;refseq.mrnaCoord_2=541;refseq.mrnaCoord_3=717;refseq.mrnaCoord_4=717;refseq.name2_1=PDPN;refseq.name2_2=PDPN;refseq.name2_3=PDPN;refseq.name2_4=PDPN;refseq.name_1=NM_001006624;refseq.name_2=NM_001006625;refseq.name_3=NM_006474;refseq.name_4=NM_198389;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A105G;refseq.proteinCoordStr_2=p.A105G;refseq.proteinCoordStr_3=p.A223G;refseq.proteinCoordStr_4=p.A223G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-37;refseq.spliceDist_3=-43;refseq.spliceDist_4=-37;refseq.start_1=13813451;refseq.start_2=13813451;refseq.start_3=13813451;refseq.start_4=13813451;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=Intersection GT 1/1 chr1 13977726 . T A 108.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.75;MQ0=0;OQ=1755.00;QD=14.39;RankSumP=0.318138;SB=-424.47;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.246T>A;refseq.codingCoordStr_3=c.849T>A;refseq.codingCoordStr_4=c.849T>A;refseq.codonCoord_2=82;refseq.codonCoord_3=283;refseq.codonCoord_4=283;refseq.end_1=14015498;refseq.end_2=13977726;refseq.end_3=13977726;refseq.end_4=13977726;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=445;refseq.mrnaCoord_3=1705;refseq.mrnaCoord_4=1705;refseq.name2_1=PRDM2;refseq.name2_2=PRDM2;refseq.name2_3=PRDM2;refseq.name2_4=PRDM2;refseq.name_1=NM_001135610;refseq.name_2=NM_001007257;refseq.name_3=NM_012231;refseq.name_4=NM_015866;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D82E;refseq.proteinCoordStr_3=p.D283E;refseq.proteinCoordStr_4=p.D283E;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_2=227;refseq.spliceDist_3=227;refseq.spliceDist_4=227;refseq.start_1=13948580;refseq.start_2=13977726;refseq.start_3=13977726;refseq.start_4=13977726;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr1 13977885 . G A 184.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=9.03;MQ=98.97;MQ0=0;OQ=6468.73;QD=21.56;RankSumP=0.399673;SB=-2057.38;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.405G>A;refseq.codingCoordStr_3=c.1008G>A;refseq.codingCoordStr_4=c.1008G>A;refseq.codonCoord_2=135;refseq.codonCoord_3=336;refseq.codonCoord_4=336;refseq.end_1=14015498;refseq.end_2=13977885;refseq.end_3=13977885;refseq.end_4=13977885;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=604;refseq.mrnaCoord_3=1864;refseq.mrnaCoord_4=1864;refseq.name2_1=PRDM2;refseq.name2_2=PRDM2;refseq.name2_3=PRDM2;refseq.name2_4=PRDM2;refseq.name_1=NM_001135610;refseq.name_2=NM_001007257;refseq.name_3=NM_012231;refseq.name_4=NM_015866;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.E135E;refseq.proteinCoordStr_3=p.E336E;refseq.proteinCoordStr_4=p.E336E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_2=386;refseq.spliceDist_3=386;refseq.spliceDist_4=386;refseq.start_1=13948580;refseq.start_2=13977885;refseq.start_3=13977885;refseq.start_4=13977885;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr1 13981701 . A G 157.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=98.86;MQ0=0;OQ=1352.73;QD=13.80;RankSumP=0.426089;SB=-677.73;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.4221A>G;refseq.codingCoordStr_3=c.4824A>G;refseq.codingCoordStr_4=c.4824A>G;refseq.codonCoord_2=1407;refseq.codonCoord_3=1608;refseq.codonCoord_4=1608;refseq.end_1=14015498;refseq.end_2=13981701;refseq.end_3=13981701;refseq.end_4=13981701;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=4420;refseq.mrnaCoord_3=5680;refseq.mrnaCoord_4=5680;refseq.name2_1=PRDM2;refseq.name2_2=PRDM2;refseq.name2_3=PRDM2;refseq.name2_4=PRDM2;refseq.name_1=NM_001135610;refseq.name_2=NM_001007257;refseq.name_3=NM_012231;refseq.name_4=NM_015866;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S1407S;refseq.proteinCoordStr_3=p.S1608S;refseq.proteinCoordStr_4=p.S1608S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_2=-213;refseq.spliceDist_3=-213;refseq.spliceDist_4=-213;refseq.start_1=13948580;refseq.start_2=13981701;refseq.start_3=13981701;refseq.start_4=13981701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=Intersection GT 0/1 chr1 14015590 . A G 196.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=5.84;MQ=99.00;MQ0=0;OQ=8394.67;QD=34.12;RankSumP=1.00000;SB=-2866.32;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.593A>G;refseq.codingCoordStr_2=c.5118A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=1706;refseq.end_1=14015590;refseq.end_2=14015590;refseq.frame_1=1;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=719;refseq.mrnaCoord_2=5974;refseq.name2_1=PRDM2;refseq.name2_2=PRDM2;refseq.name_1=NM_001135610;refseq.name_2=NM_012231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q198R;refseq.proteinCoordStr_2=p.P1706P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=14015590;refseq.start_2=14015590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Pro;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr1 15259266 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.646A>C;refseq.codingCoordStr_2=c.910A>C;refseq.codingCoordStr_3=c.646A>C;refseq.codingCoordStr_4=c.928A>C;refseq.codingCoordStr_5=c.928A>C;refseq.codonCoord_1=216;refseq.codonCoord_2=304;refseq.codonCoord_3=216;refseq.codonCoord_4=310;refseq.codonCoord_5=310;refseq.end_1=15259266;refseq.end_2=15259266;refseq.end_3=15259266;refseq.end_4=15259266;refseq.end_5=15259266;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=957;refseq.mrnaCoord_2=1146;refseq.mrnaCoord_3=947;refseq.mrnaCoord_4=1209;refseq.mrnaCoord_5=1209;refseq.name2_1=KAZ;refseq.name2_2=KAZ;refseq.name2_3=KAZ;refseq.name2_4=KAZ;refseq.name2_5=KAZ;refseq.name_1=NM_001017999;refseq.name_2=NM_001018000;refseq.name_3=NM_001018001;refseq.name_4=NM_015209;refseq.name_5=NM_201628;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S216R;refseq.proteinCoordStr_2=p.S304R;refseq.proteinCoordStr_3=p.S216R;refseq.proteinCoordStr_4=p.S310R;refseq.proteinCoordStr_5=p.S310R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.spliceDist_5=12;refseq.start_1=15259266;refseq.start_2=15259266;refseq.start_3=15259266;refseq.start_4=15259266;refseq.start_5=15259266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;set=FilteredInAll GT 0/1 chr1 15259267 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=1.50996e-08;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.647G>C;refseq.codingCoordStr_2=c.911G>C;refseq.codingCoordStr_3=c.647G>C;refseq.codingCoordStr_4=c.929G>C;refseq.codingCoordStr_5=c.929G>C;refseq.codonCoord_1=216;refseq.codonCoord_2=304;refseq.codonCoord_3=216;refseq.codonCoord_4=310;refseq.codonCoord_5=310;refseq.end_1=15259267;refseq.end_2=15259267;refseq.end_3=15259267;refseq.end_4=15259267;refseq.end_5=15259267;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=958;refseq.mrnaCoord_2=1147;refseq.mrnaCoord_3=948;refseq.mrnaCoord_4=1210;refseq.mrnaCoord_5=1210;refseq.name2_1=KAZ;refseq.name2_2=KAZ;refseq.name2_3=KAZ;refseq.name2_4=KAZ;refseq.name2_5=KAZ;refseq.name_1=NM_001017999;refseq.name_2=NM_001018000;refseq.name_3=NM_001018001;refseq.name_4=NM_015209;refseq.name_5=NM_201628;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S216T;refseq.proteinCoordStr_2=p.S304T;refseq.proteinCoordStr_3=p.S216T;refseq.proteinCoordStr_4=p.S310T;refseq.proteinCoordStr_5=p.S310T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.spliceDist_5=13;refseq.start_1=15259267;refseq.start_2=15259267;refseq.start_3=15259267;refseq.start_4=15259267;refseq.start_5=15259267;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=FilteredInAll GT 0/1 chr1 15418664 . G A 195.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=99.00;MQ0=0;OQ=1607.58;QD=14.23;RankSumP=0.351736;SB=-702.65;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.600G>A;refseq.codingCoordStr_2=c.600G>A;refseq.codingCoordStr_3=c.600G>A;refseq.codingCoordStr_4=c.600G>A;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.codonCoord_3=200;refseq.codonCoord_4=200;refseq.end_1=15418664;refseq.end_2=15418664;refseq.end_3=15418664;refseq.end_4=15418664;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1119;refseq.mrnaCoord_2=1046;refseq.mrnaCoord_3=1088;refseq.mrnaCoord_4=1015;refseq.name2_1=TMEM51;refseq.name2_2=TMEM51;refseq.name2_3=TMEM51;refseq.name2_4=TMEM51;refseq.name_1=NM_001136216;refseq.name_2=NM_001136217;refseq.name_3=NM_001136218;refseq.name_4=NM_018022;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P200P;refseq.proteinCoordStr_2=p.P200P;refseq.proteinCoordStr_3=p.P200P;refseq.proteinCoordStr_4=p.P200P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=256;refseq.spliceDist_2=256;refseq.spliceDist_3=256;refseq.spliceDist_4=256;refseq.start_1=15418664;refseq.start_2=15418664;refseq.start_3=15418664;refseq.start_4=15418664;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/0 chr1 15685019 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=15.93;MQ=98.18;MQ0=0;OQ=3693.63;QD=32.98;RankSumP=1.00000;SB=-1561.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.530A>G;refseq.codonCoord=177;refseq.end=15685019;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_015849;refseq.name2=CELA2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q177R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=15685019;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 15686423 . T C 217.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=8.58;MQ=98.10;MQ0=0;OQ=4503.58;QD=16.26;RankSumP=0.422240;SB=-1451.11;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.696T>C;refseq.codonCoord=232;refseq.end=15686423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_015849;refseq.name2=CELA2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H232H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=57;refseq.start=15686423;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 15825810 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.198G>T;refseq.codonCoord=66;refseq.end=15825810;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_032341;refseq.name2=DDI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L66F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=60;refseq.start=15825810;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr1 15969521 . C T 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=11.89;MQ=97.96;MQ0=0;OQ=13544.05;QD=36.80;RankSumP=1.00000;SB=-6531.45;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.572C>T;refseq.codingCoordStr_2=c.281C>T;refseq.codingCoordStr_3=c.572C>T;refseq.codonCoord_1=191;refseq.codonCoord_2=94;refseq.codonCoord_3=191;refseq.end_1=15969521;refseq.end_2=15969521;refseq.end_3=15969521;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=779;refseq.mrnaCoord_2=301;refseq.mrnaCoord_3=871;refseq.name2_1=FBLIM1;refseq.name2_2=FBLIM1;refseq.name2_3=FBLIM1;refseq.name_1=NM_001024215;refseq.name_2=NM_001024216;refseq.name_3=NM_017556;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S191F;refseq.proteinCoordStr_2=p.S94F;refseq.proteinCoordStr_3=p.S191F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=15969521;refseq.start_2=15969521;refseq.start_3=15969521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr1 16075658 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.779G>A;refseq.codonCoord=260;refseq.end=16075658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S260N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-103;refseq.start=16075658;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr1 16075659 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.780C>A;refseq.codonCoord=260;refseq.end=16075659;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S260R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-102;refseq.start=16075659;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/0 chr1 16128594 . T C 242.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1070.48;QD=39.65;RankSumP=1.00000;SB=-249.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3272T>C;refseq.codonCoord=1091;refseq.end=16128594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3476;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1091P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=1422;refseq.start=16128594;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 16130247 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=5.02957e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4925T>G;refseq.codonCoord=1642;refseq.end=16130247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5129;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1642G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=3075;refseq.start=16130247;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 16132400 . A G 219.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.67;MQ0=0;OQ=5171.52;QD=31.53;RankSumP=1.00000;SB=-2113.85;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7078A>G;refseq.codonCoord=2360;refseq.end=16132400;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7282;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2360D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-2949;refseq.start=16132400;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 16136580 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10362A>C;refseq.codonCoord=3454;refseq.end=16136580;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10566;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.K3454N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-148;refseq.start=16136580;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr1 16136917 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10533C>G;refseq.codonCoord=3511;refseq.end=16136917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10737;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3511G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=24;refseq.start=16136917;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 16137051 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10667A>G;refseq.codonCoord=3556;refseq.end=16137051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10871;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3556G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-38;refseq.start=16137051;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 16138491 . T A 102.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=9.64;MQ=98.69;MQ0=0;OQ=3802.56;QD=22.50;RankSumP=0.491140;SB=-814.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10977T>A;refseq.codonCoord=3659;refseq.end=16138491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11181;refseq.name=NM_015001;refseq.name2=SPEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I3659I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=114;refseq.start=16138491;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 16144837 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=94.25;MQ0=0;OQ=318.72;QD=5.22;RankSumP=0.553629;SB=-62.30;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=16144837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_003443;refseq.name2=ZBTB17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A207A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-41;refseq.start=16144837;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 16205243 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=1.64411e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.325A>C;refseq.codonCoord=109;refseq.end=16205243;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_178840;refseq.name2=C1orf64;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=243;refseq.start=16205243;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 16214824 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.60;MQ0=0;OQ=767.21;QD=11.80;RankSumP=0.101664;SB=-284.46;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.351T>C;refseq.codonCoord=117;refseq.end=16214824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_014424;refseq.name2=HSPB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T117T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=18;refseq.start=16214824;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 16216947 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.34;MQ=99.00;MQ0=0;OQ=488.03;QD=13.56;RankSumP=0.631450;SB=-257.58;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=16216947;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_014424;refseq.name2=HSPB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A33A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-101;refseq.start=16216947;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 16216989 . G A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=347.49;QD=13.36;RankSumP=0.0965757;SB=-144.59;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.57C>T;refseq.codonCoord=19;refseq.end=16216989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=884;refseq.name=NM_014424;refseq.name2=HSPB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S19S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-143;refseq.start=16216989;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 16223862 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=238;Dels=0.00;HRun=3;HaplotypeScore=20.73;MQ=67.50;MQ0=0;OQ=2282.38;QD=9.59;RankSumP=0.00745984;SB=-1151.77;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.247A>G;refseq.codingCoordStr_2=c.247A>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=16223862;refseq.end_2=16223862;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=327;refseq.mrnaCoord_2=327;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R83G;refseq.proteinCoordStr_2=p.R83G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=16223862;refseq.start_2=16223862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=filterInsoap-gatk GT 0/1 chr1 16227177 . A T 99.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=12.56;MQ=98.48;MQ0=0;OQ=6133.84;QD=21.60;RankSumP=0.370158;SB=-1605.17;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.944A>T;refseq.codingCoordStr_2=c.944A>T;refseq.codonCoord_1=315;refseq.codonCoord_2=315;refseq.end_1=16227177;refseq.end_2=16227177;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1024;refseq.mrnaCoord_2=1024;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y315F;refseq.proteinCoordStr_2=p.Y315F;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=16227177;refseq.start_2=16227177;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr1 16229084 rs7411607 C G 2.52 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=92.87;MQ0=0;OQ=286.91;QD=9.26;SB=-140.56;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1335C>G;refseq.codingCoordStr_2=c.1335C>G;refseq.codonCoord_1=445;refseq.codonCoord_2=445;refseq.end_1=16229084;refseq.end_2=16229084;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1415;refseq.mrnaCoord_2=1415;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A445A;refseq.proteinCoordStr_2=p.A445A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=16229084;refseq.start_2=16229084;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:21,10:26:-39.81,-7.83,-77.01:99 chr1 16229088 rs1805152 G A 32.67 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=91.65;MQ0=0;OQ=359.34;QD=10.57;SB=-161.65;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1339G>A;refseq.codingCoordStr_2=c.1339G>A;refseq.codonCoord_1=447;refseq.codonCoord_2=447;refseq.end_1=16229088;refseq.end_2=16229088;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1419;refseq.mrnaCoord_2=1419;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A447T;refseq.proteinCoordStr_2=p.A447T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=16229088;refseq.start_2=16229088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:21,13:28:-47.65,-8.44,-59.42:99 chr1 16229109 rs34471231 A G 3.61 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.55;MQ=92.67;MQ0=0;OQ=405.27;QD=9.21;SB=-211.57;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1360A>G;refseq.codingCoordStr_2=c.1360A>G;refseq.codonCoord_1=454;refseq.codonCoord_2=454;refseq.end_1=16229109;refseq.end_2=16229109;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1440;refseq.mrnaCoord_2=1440;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T454A;refseq.proteinCoordStr_2=p.T454A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=16229109;refseq.start_2=16229109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=gatk GT:AD:DP:GL:GQ 0/1:29,15:40:-55.86,-12.05,-104.89:99 chr1 16229118 rs35747151 G A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=92.45;MQ0=0;OQ=185.29;QD=4.31;SB=20.09;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1369G>A;refseq.codingCoordStr_2=c.1369G>A;refseq.codonCoord_1=457;refseq.codonCoord_2=457;refseq.end_1=16229118;refseq.end_2=16229118;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1449;refseq.mrnaCoord_2=1449;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V457I;refseq.proteinCoordStr_2=p.V457I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=16229118;refseq.start_2=16229118;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:33,10:31:-31.15,-9.34,-88.45:99 chr1 16229120 rs35154011 T C 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=93.07;MQ0=0;OQ=183.25;QD=4.47;SB=-0.56;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1371T>C;refseq.codingCoordStr_2=c.1371T>C;refseq.codonCoord_1=457;refseq.codonCoord_2=457;refseq.end_1=16229120;refseq.end_2=16229120;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1451;refseq.mrnaCoord_2=1451;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V457V;refseq.proteinCoordStr_2=p.V457V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=16229120;refseq.start_2=16229120;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=gatk GT:AD:DP:GL:GQ 0/1:27,14:30:-30.65,-9.04,-91.27:99 chr1 16229734 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=15.41;MQ=59.79;MQ0=66;OQ=1422.98;QD=8.13;RankSumP=0.162780;SB=-496.50;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1600C>T;refseq.codingCoordStr_2=c.1600C>T;refseq.codonCoord_1=534;refseq.codonCoord_2=534;refseq.end_1=16229734;refseq.end_2=16229734;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1680;refseq.mrnaCoord_2=1680;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R534W;refseq.proteinCoordStr_2=p.R534W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=16229734;refseq.start_2=16229734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr1 16232724 . C T 131.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=30.63;MQ0=4;OQ=1969.71;QD=14.70;RankSumP=0.123400;SB=-907.58;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2045C>T;refseq.codingCoordStr_2=c.2048C>T;refseq.codonCoord_1=682;refseq.codonCoord_2=683;refseq.end_1=16232724;refseq.end_2=16232724;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2125;refseq.mrnaCoord_2=2128;refseq.name2_1=CLCNKA;refseq.name2_2=CLCNKA;refseq.name_1=NM_001042704;refseq.name_2=NM_004070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P682L;refseq.proteinCoordStr_2=p.P683L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=16232724;refseq.start_2=16232724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr1 16247120 . G C 176.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=97.44;MQ0=0;OQ=1346.74;QD=19.81;RankSumP=0.338381;SB=-48.46;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.492G>C;refseq.codonCoord=164;refseq.end=16247120;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_000085;refseq.name2=CLCNKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G164G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=16247120;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 16247650 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=21.29;MQ=62.16;MQ0=94;OQ=1314.45;QD=7.07;RankSumP=0.0619009;SB=-3.98;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.641C>G;refseq.codonCoord=214;refseq.end=16247650;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_000085;refseq.name2=CLCNKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A214G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-15;refseq.start=16247650;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 16247651 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=17.95;MQ=62.95;MQ0=90;OQ=869.64;QD=4.80;RankSumP=0.327531;SB=-3.98;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.642A>C;refseq.codonCoord=214;refseq.end=16247651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=778;refseq.name=NM_000085;refseq.name2=CLCNKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A214A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-14;refseq.start=16247651;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 16248778 rs34188929 C T 0.32 PASS AC=1;AF=0.50;AN=2;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=12.45;MQ=20.28;MQ0=408;OQ=183.82;QD=0.42;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.860C>T;refseq.codingCoordStr_2=c.353C>T;refseq.codonCoord_1=287;refseq.codonCoord_2=118;refseq.end_1=16248778;refseq.end_2=16248778;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=996;refseq.mrnaCoord_2=536;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A287V;refseq.proteinCoordStr_2=p.A118V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=16248778;refseq.start_2=16248778;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:374,59:24:-28.89,-7.23,-67.46:99 chr1 16248906 . T C 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.85;MQ0=0;OQ=330.55;QD=10.02;RankSumP=0.730369;SB=-97.96;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.876T>C;refseq.codingCoordStr_2=c.369T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=123;refseq.end_1=16248906;refseq.end_2=16248906;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=552;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C292C;refseq.proteinCoordStr_2=p.C123C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=16248906;refseq.start_2=16248906;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr1 16250586 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=823;Dels=0.00;HRun=0;HaplotypeScore=13.46;MQ=96.40;MQ0=4;OQ=15346.55;QD=18.65;RankSumP=0.0116494;SB=-6148.69;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1254C>T;refseq.codingCoordStr_2=c.747C>T;refseq.codonCoord_1=418;refseq.codonCoord_2=249;refseq.end_1=16250586;refseq.end_2=16250586;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1390;refseq.mrnaCoord_2=930;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T418T;refseq.proteinCoordStr_2=p.T249T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=16250586;refseq.start_2=16250586;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr1 16250587 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=828;Dels=0.00;HRun=0;HaplotypeScore=13.31;MQ=96.41;MQ0=4;OQ=14842.34;QD=17.93;RankSumP=6.82858e-05;SB=-5491.85;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1255A>G;refseq.codingCoordStr_2=c.748A>G;refseq.codonCoord_1=419;refseq.codonCoord_2=250;refseq.end_1=16250587;refseq.end_2=16250587;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1391;refseq.mrnaCoord_2=931;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I419V;refseq.proteinCoordStr_2=p.I250V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=16250587;refseq.start_2=16250587;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=filterInsoap-gatk GT 0/1 chr1 16250802 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.56;MQ0=1;OQ=494.50;QD=14.54;RankSumP=0.528480;SB=-109.92;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1308C>T;refseq.codingCoordStr_2=c.801C>T;refseq.codonCoord_1=436;refseq.codonCoord_2=267;refseq.end_1=16250802;refseq.end_2=16250802;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1444;refseq.mrnaCoord_2=984;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I436I;refseq.proteinCoordStr_2=p.I267I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=16250802;refseq.start_2=16250802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr1 16251312 . A T 129.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=10.81;MQ=83.64;MQ0=2;OQ=4199.62;QD=14.14;RankSumP=0.0250061;SB=-1650.08;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1441A>T;refseq.codingCoordStr_2=c.934A>T;refseq.codonCoord_1=481;refseq.codonCoord_2=312;refseq.end_1=16251312;refseq.end_2=16251312;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1577;refseq.mrnaCoord_2=1117;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T481S;refseq.proteinCoordStr_2=p.T312S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=16251312;refseq.start_2=16251312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr1 16252783 . T C 191.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=79.05;MQ0=67;OQ=8282.70;QD=25.64;RankSumP=1.00000;SB=-2474.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1685T>C;refseq.codingCoordStr_2=c.1178T>C;refseq.codonCoord_1=562;refseq.codonCoord_2=393;refseq.end_1=16252783;refseq.end_2=16252783;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1821;refseq.mrnaCoord_2=1361;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M562T;refseq.proteinCoordStr_2=p.M393T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=16252783;refseq.start_2=16252783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr1 16252830 . A G 134.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=57.96;MQ0=57;OQ=5354.57;QD=25.14;RankSumP=1.00000;SB=-1179.65;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1732A>G;refseq.codingCoordStr_2=c.1225A>G;refseq.codonCoord_1=578;refseq.codonCoord_2=409;refseq.end_1=16252830;refseq.end_2=16252830;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1868;refseq.mrnaCoord_2=1408;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K578E;refseq.proteinCoordStr_2=p.K409E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=16252830;refseq.start_2=16252830;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 16252839 . C T 75.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=56.61;MQ0=47;OQ=5963.25;QD=29.09;RankSumP=1.00000;SB=-1589.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1741C>T;refseq.codingCoordStr_2=c.1234C>T;refseq.codonCoord_1=581;refseq.codonCoord_2=412;refseq.end_1=16252839;refseq.end_2=16252839;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1877;refseq.mrnaCoord_2=1417;refseq.name2_1=CLCNKB;refseq.name2_2=CLCNKB;refseq.name_1=NM_000085;refseq.name_2=NM_001165945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L581L;refseq.proteinCoordStr_2=p.L412L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=16252839;refseq.start_2=16252839;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr1 16257718 . C A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=47.56;MQ0=5;OQ=329.63;QD=9.99;RankSumP=0.428571;SB=-105.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.644G>T;refseq.codonCoord=215;refseq.end=16257718;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_182623;refseq.name2=FAM131C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S215I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=82;refseq.start=16257718;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr1 16259034 . G C 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=86.12;MQ0=2;OQ=1714.58;QD=34.99;RankSumP=1.00000;SB=-692.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.368C>G;refseq.codonCoord=123;refseq.end=16259034;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=558;refseq.name=NM_182623;refseq.name2=FAM131C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P123R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-84;refseq.start=16259034;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 16261233 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=61.05;MQ0=8;OQ=2186.06;QD=12.49;RankSumP=0.100213;SB=-1110.97;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.216A>G;refseq.codonCoord=72;refseq.end=16261233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_182623;refseq.name2=FAM131C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R72R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=42;refseq.start=16261233;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr1 16336980 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1267A>C;refseq.codonCoord=423;refseq.end=16336980;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1404;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T423P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-46;refseq.start=16336980;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 16337260 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.84;MQ=99.00;MQ0=0;OQ=904.28;QD=19.24;RankSumP=0.718034;SB=-375.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.987C>T;refseq.codonCoord=329;refseq.end=16337260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P329P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=16337260;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 16347517 . G C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.500000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.766C>G;refseq.codonCoord=256;refseq.end=16347517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P256A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-58;refseq.start=16347517;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 16347519 . A C 55 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=3.65564e-07;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.764T>G;refseq.codonCoord=255;refseq.end=16347519;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V255G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-60;refseq.start=16347519;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 16347710 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=505.38;QD=8.57;RankSumP=0.727520;SB=-219.42;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.573G>A;refseq.codonCoord=191;refseq.end=16347710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L191L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-251;refseq.start=16347710;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr1 16347713 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=473.74;QD=8.03;RankSumP=0.0746050;SB=-186.78;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.570G>A;refseq.codonCoord=190;refseq.end=16347713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_004431;refseq.name2=EPHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A190A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-254;refseq.start=16347713;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 16450495 . G C 247.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.49;MQ0=0;OQ=3459.48;QD=46.13;RankSumP=1.00000;SB=-1215.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1411C>G;refseq.codonCoord=471;refseq.end=16450495;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1627;refseq.name=NM_018994;refseq.name2=FBXO42;refseq.positionType=CDS;refseq.proteinCoordStr=p.P471A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=373;refseq.start=16450495;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 16608719 . T C 223.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=99.00;MQ0=0;OQ=2256.56;QD=35.82;RankSumP=1.00000;SB=-789.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.551A>G;refseq.codonCoord=184;refseq.end=16608719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_198546;refseq.name2=SPATA21;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q184R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-37;refseq.start=16608719;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 17121119 . A G 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=5;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=135.23;QD=27.05;RankSumP=1.00000;SB=-51.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.19A>G;refseq.codonCoord=7;refseq.end=17121119;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R7G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-42;refseq.start=17121119;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=filterInsoap-gatk GT 1/1 chr1 17147924 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=166;Dels=0.00;HRun=0;HaplotypeScore=26.68;MQ=37.67;MQ0=48;OQ=74.40;QD=0.45;SB=59.20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2752C>T;refseq.codonCoord=918;refseq.end=17147924;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2821;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R918W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=44;refseq.start=17147924;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:109,51:86:-36.63,-25.91,-285.57:99 chr1 17153333 . C T 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.464220;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3215C>T;refseq.codonCoord=1072;refseq.end=17153333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3284;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1072M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=29;refseq.start=17153333;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr1 17155160 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=99.00;MQ0=0;OQ=79.88;QD=13.31;RankSumP=0.642857;SB=-47.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3786G>A;refseq.codonCoord=1262;refseq.end=17155160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3855;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1262G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-79;refseq.start=17155160;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 17165158 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=129;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=98.90;MQ0=0;OQ=2041.88;QD=15.83;RankSumP=0.254264;SB=-870.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4653G>A;refseq.codonCoord=1551;refseq.end=17165158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4722;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1551S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-44;refseq.start=17165158;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr1 17168266 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=98.82;MQ0=0;OQ=1349.21;QD=30.66;RankSumP=1.00000;SB=-618.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5145T>C;refseq.codonCoord=1715;refseq.end=17168266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5214;refseq.name=NM_014675;refseq.name2=CROCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1715A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=69;refseq.start=17168266;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 17174367 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=7.76;MQ=98.93;MQ0=0;OQ=2294.50;QD=10.93;RankSumP=0.405230;SB=-1028.34;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.429T>C;refseq.codingCoordStr_2=c.429T>C;refseq.codingCoordStr_3=c.432T>C;refseq.codingCoordStr_4=c.432T>C;refseq.codonCoord_1=143;refseq.codonCoord_2=143;refseq.codonCoord_3=144;refseq.codonCoord_4=144;refseq.end_1=17174367;refseq.end_2=17174367;refseq.end_3=17174367;refseq.end_4=17174367;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=543;refseq.mrnaCoord_2=562;refseq.mrnaCoord_3=565;refseq.mrnaCoord_4=546;refseq.name2_1=MFAP2;refseq.name2_2=MFAP2;refseq.name2_3=MFAP2;refseq.name2_4=MFAP2;refseq.name_1=NM_001135247;refseq.name_2=NM_001135248;refseq.name_3=NM_002403;refseq.name_4=NM_017459;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H143H;refseq.proteinCoordStr_2=p.H143H;refseq.proteinCoordStr_3=p.H144H;refseq.proteinCoordStr_4=p.H144H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.spliceDist_4=-17;refseq.start_1=17174367;refseq.start_2=17174367;refseq.start_3=17174367;refseq.start_4=17174367;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 0/1 chr1 17185330 . C T 120.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=98.73;MQ0=0;OQ=1387.07;QD=32.26;RankSumP=1.00000;SB=-271.86;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3501G>A;refseq.codingCoordStr_2=c.3214G>A;refseq.codingCoordStr_3=c.3516G>A;refseq.codonCoord_1=1167;refseq.codonCoord_2=1072;refseq.codonCoord_3=1172;refseq.end_1=17185330;refseq.end_2=17185330;refseq.end_3=17185330;refseq.frame_1=2;refseq.frame_2=0;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3691;refseq.mrnaCoord_2=3404;refseq.mrnaCoord_3=3706;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1167P;refseq.proteinCoordStr_2=p.A1072T;refseq.proteinCoordStr_3=p.P1172P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=111;refseq.start_1=17185330;refseq.start_2=17185330;refseq.start_3=17185330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Thr;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=ACC;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr1 17185930 . G A 155.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.63;MQ0=0;OQ=2557.15;QD=31.57;RankSumP=1.00000;SB=-931.66;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3177C>T;refseq.codingCoordStr_2=c.3060C>T;refseq.codingCoordStr_3=c.3192C>T;refseq.codonCoord_1=1059;refseq.codonCoord_2=1020;refseq.codonCoord_3=1064;refseq.end_1=17185930;refseq.end_2=17185930;refseq.end_3=17185930;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3367;refseq.mrnaCoord_2=3250;refseq.mrnaCoord_3=3382;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1059A;refseq.proteinCoordStr_2=p.A1020A;refseq.proteinCoordStr_3=p.A1064A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.start_1=17185930;refseq.start_2=17185930;refseq.start_3=17185930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr1 17186241 . C T 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=97.63;MQ0=0;OQ=3564.01;QD=28.29;RankSumP=1.00000;SB=-926.93;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2955G>A;refseq.codingCoordStr_2=c.2838G>A;refseq.codingCoordStr_3=c.2970G>A;refseq.codonCoord_1=985;refseq.codonCoord_2=946;refseq.codonCoord_3=990;refseq.end_1=17186241;refseq.end_2=17186241;refseq.end_3=17186241;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3145;refseq.mrnaCoord_2=3028;refseq.mrnaCoord_3=3160;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V985V;refseq.proteinCoordStr_2=p.V946V;refseq.proteinCoordStr_3=p.V990V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=111;refseq.start_1=17186241;refseq.start_2=17186241;refseq.start_3=17186241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr1 17187529 . G A 311.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.53;MQ0=0;OQ=3002.09;QD=37.06;RankSumP=1.00000;SB=-1138.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2622C>T;refseq.codingCoordStr_2=c.2505C>T;refseq.codingCoordStr_3=c.2637C>T;refseq.codonCoord_1=874;refseq.codonCoord_2=835;refseq.codonCoord_3=879;refseq.end_1=17187529;refseq.end_2=17187529;refseq.end_3=17187529;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2812;refseq.mrnaCoord_2=2695;refseq.mrnaCoord_3=2827;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G874G;refseq.proteinCoordStr_2=p.G835G;refseq.proteinCoordStr_3=p.G879G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=17187529;refseq.start_2=17187529;refseq.start_3=17187529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chr1 17191598 . G A 259.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=97.04;MQ0=0;OQ=1605.23;QD=36.48;RankSumP=1.00000;SB=-747.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1800C>T;refseq.codingCoordStr_2=c.1800C>T;refseq.codingCoordStr_3=c.1815C>T;refseq.codonCoord_1=600;refseq.codonCoord_2=600;refseq.codonCoord_3=605;refseq.end_1=17191598;refseq.end_2=17191598;refseq.end_3=17191598;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1990;refseq.mrnaCoord_2=1990;refseq.mrnaCoord_3=2005;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P600P;refseq.proteinCoordStr_2=p.P600P;refseq.proteinCoordStr_3=p.P605P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=17191598;refseq.start_2=17191598;refseq.start_3=17191598;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr1 17192709 . A C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.510212;SecondBestBaseQ=15;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1734+2;refseq.codingCoordStr_2=c.1734+2;refseq.codingCoordStr_3=c.1749+2;refseq.end_1=17192709;refseq.end_2=17192709;refseq.end_3=17192709;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=ATP13A2;refseq.name2_2=ATP13A2;refseq.name2_3=ATP13A2;refseq.name_1=NM_001141973;refseq.name_2=NM_001141974;refseq.name_3=NM_022089;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=17192709;refseq.start_2=17192709;refseq.start_3=17192709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=soap GT 0/1 chr1 17253084 . G T 193.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=15;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=97.96;MQ0=0;OQ=992.63;QD=16.27;RankSumP=1.00000;SB=-430.57;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.18C>A;refseq.codonCoord=6;refseq.end=17253084;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_003000;refseq.name2=SDHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-55;refseq.start=17253084;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 17269290 . T C 352.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=1.77;MQ=99.00;MQ0=0;OQ=5717.91;QD=41.14;RankSumP=1.00000;SB=-2744.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1644A>G;refseq.codonCoord=548;refseq.end=17269290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1726;refseq.name=NM_007365;refseq.name2=PADI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L548L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=17269290;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 17274842 . C T 340.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=98.70;MQ0=0;OQ=6739.56;QD=39.18;RankSumP=1.00000;SB=-1275.71;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1374G>A;refseq.codonCoord=458;refseq.end=17274842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1456;refseq.name=NM_007365;refseq.name2=PADI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A458A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=64;refseq.start=17274842;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 17278396 . G A 353.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.79;MQ0=0;OQ=3756.82;QD=38.33;RankSumP=1.00000;SB=-1521.67;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1260C>T;refseq.codonCoord=420;refseq.end=17278396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1342;refseq.name=NM_007365;refseq.name2=PADI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N420N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-51;refseq.start=17278396;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 17428095 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.94;MQ0=0;OQ=232.13;QD=9.29;RankSumP=0.392222;SB=-97.78;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.891G>T;refseq.codonCoord=297;refseq.end=17428095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_013358;refseq.name2=PADI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T297T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-39;refseq.start=17428095;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 17482035 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=8.34;MQ=98.61;MQ0=0;OQ=2396.71;QD=12.82;RankSumP=0.113367;SB=-381.68;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1869G>T;refseq.codonCoord=623;refseq.end=17482035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1909;refseq.name=NM_016233;refseq.name2=PADI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P623P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=108;refseq.start=17482035;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 17612173 . G A 138.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=97.99;MQ0=0;OQ=1424.48;QD=18.26;RankSumP=0.217772;SB=-554.10;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1296C>T;refseq.codingCoordStr_2=c.1296C>T;refseq.codonCoord_1=432;refseq.codonCoord_2=432;refseq.end_1=17612173;refseq.end_2=17612173;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=1484;refseq.name2_1=RCC2;refseq.name2_2=RCC2;refseq.name_1=NM_001136204;refseq.name_2=NM_018715;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I432I;refseq.proteinCoordStr_2=p.I432I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=17612173;refseq.start_2=17612173;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr1 17863639 . T C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.01;HRun=3;HaplotypeScore=13.24;MQ=98.34;MQ0=0;OQ=3960.06;QD=32.46;RankSumP=1.00000;SB=-1674.51;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2854T>C;refseq.codingCoordStr_2=c.2971T>C;refseq.codonCoord_1=952;refseq.codonCoord_2=991;refseq.end_1=17863639;refseq.end_2=17863639;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2897;refseq.mrnaCoord_2=3130;refseq.name2_1=ARHGEF10L;refseq.name2_2=ARHGEF10L;refseq.name_1=NM_001011722;refseq.name_2=NM_018125;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W952R;refseq.proteinCoordStr_2=p.W991R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=17863639;refseq.start_2=17863639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr1 17895952 . C T 289.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=7.36;MQ=98.64;MQ0=0;OQ=6455.73;QD=38.43;RankSumP=1.00000;SB=-2952.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3213C>T;refseq.codingCoordStr_2=c.3330C>T;refseq.codonCoord_1=1071;refseq.codonCoord_2=1110;refseq.end_1=17895952;refseq.end_2=17895952;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3256;refseq.mrnaCoord_2=3489;refseq.name2_1=ARHGEF10L;refseq.name2_2=ARHGEF10L;refseq.name_1=NM_001011722;refseq.name_2=NM_018125;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1071N;refseq.proteinCoordStr_2=p.N1110N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=17895952;refseq.start_2=17895952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr1 17896096 . T C 99.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=92.25;MQ0=0;OQ=828.20;QD=29.58;RankSumP=1.00000;SB=-433.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3357T>C;refseq.codingCoordStr_2=c.3474T>C;refseq.codonCoord_1=1119;refseq.codonCoord_2=1158;refseq.end_1=17896096;refseq.end_2=17896096;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3400;refseq.mrnaCoord_2=3633;refseq.name2_1=ARHGEF10L;refseq.name2_2=ARHGEF10L;refseq.name_1=NM_001011722;refseq.name_2=NM_018125;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1119D;refseq.proteinCoordStr_2=p.D1158D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=167;refseq.spliceDist_2=167;refseq.start_1=17896096;refseq.start_2=17896096;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr1 17896277 . A G 78.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.16;MQ0=0;OQ=1014.97;QD=25.37;RankSumP=1.00000;SB=-483.49;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3538A>G;refseq.codingCoordStr_2=c.3655A>G;refseq.codonCoord_1=1180;refseq.codonCoord_2=1219;refseq.end_1=17896277;refseq.end_2=17896277;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3581;refseq.mrnaCoord_2=3814;refseq.name2_1=ARHGEF10L;refseq.name2_2=ARHGEF10L;refseq.name_1=NM_001011722;refseq.name_2=NM_018125;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1180V;refseq.proteinCoordStr_2=p.I1219V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=348;refseq.spliceDist_2=348;refseq.start_1=17896277;refseq.start_2=17896277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr1 17896464 . G A 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=265.70;QD=9.84;RankSumP=0.639857;SB=-74.27;SecondBestBaseQ=29;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*2G>A;refseq.codingCoordStr_2=c.*2G>A;refseq.end_1=17896464;refseq.end_2=17896464;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3768;refseq.mrnaCoord_2=4001;refseq.name2_1=ARHGEF10L;refseq.name2_2=ARHGEF10L;refseq.name_1=NM_001011722;refseq.name_2=NM_018125;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=-494;refseq.spliceDist_2=-494;refseq.start_1=17896464;refseq.start_2=17896464;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr1 18022097 . G T 110.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.42;MQ0=0;OQ=1989.01;QD=15.07;RankSumP=0.500000;SB=-407.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7G>T;refseq.codonCoord=3;refseq.end=18022097;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_030812;refseq.name2=ACTL8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=31;refseq.start=18022097;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr1 18022153 . C A 328.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=9.39;MQ=98.47;MQ0=0;OQ=4594.81;QD=17.34;RankSumP=0.272367;SB=-1328.10;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.63C>A;refseq.codonCoord=21;refseq.end=18022153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_030812;refseq.name2=ACTL8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G21G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=87;refseq.start=18022153;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 18025169 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=98.59;MQ0=0;OQ=2004.31;QD=22.03;RankSumP=0.0956292;SB=-737.75;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.669C>T;refseq.codonCoord=223;refseq.end=18025169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_030812;refseq.name2=ACTL8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D223D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=321;refseq.start=18025169;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 18490948 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.185T>G;refseq.codonCoord=62;refseq.end=18490948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_032880;refseq.name2=IGSF21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V62G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=18490948;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 18564305 . T G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=4.66862e-06;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.542T>G;refseq.codonCoord=181;refseq.end=18564305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_032880;refseq.name2=IGSF21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V181G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=18564305;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 18680123 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=14.64;MQ=98.22;MQ0=0;OQ=2226.56;QD=14.75;RankSumP=0.0944004;SB=-516.80;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.61G>T;refseq.codonCoord=21;refseq.end=18680123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V21L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=113;refseq.start=18680123;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 18680207 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=96.99;MQ0=0;OQ=575.72;QD=14.76;RankSumP=0.454178;SB=-171.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.145G>C;refseq.codonCoord=49;refseq.end=18680207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G49R;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=197;refseq.start=18680207;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 18680342 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.58;MQ0=0;OQ=496.23;QD=16.01;RankSumP=0.305706;SB=-193.24;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.280G>A;refseq.codonCoord=94;refseq.end=18680342;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G94S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=332;refseq.start=18680342;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 18680368 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.63;MQ0=0;OQ=458.75;QD=13.11;RankSumP=0.162266;SB=-125.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=18680368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G102G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=358;refseq.start=18680368;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr1 18680484 . C G 111.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.09;MQ0=0;OQ=1333.12;QD=19.90;RankSumP=0.0526206;SB=-298.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.422C>G;refseq.codonCoord=141;refseq.end=18680484;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P141R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=474;refseq.start=18680484;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr1 18680643 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=219;Dels=0.00;HRun=4;HaplotypeScore=9.84;MQ=98.64;MQ0=0;OQ=4413.61;QD=20.15;RankSumP=0.207158;SB=-1610.44;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.581G>C;refseq.codonCoord=194;refseq.end=18680643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R194P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=633;refseq.start=18680643;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 18680656 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=225;Dels=0.00;HRun=2;HaplotypeScore=9.32;MQ=98.65;MQ0=0;OQ=3135.91;QD=13.94;RankSumP=0.232122;SB=-1286.10;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.594A>G;refseq.codonCoord=198;refseq.end=18680656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G198G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=646;refseq.start=18680656;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 18680879 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.78;MQ0=0;OQ=1464.66;QD=18.78;RankSumP=0.344955;SB=-274.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.817C>A;refseq.codonCoord=273;refseq.end=18680879;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H273N;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=869;refseq.start=18680879;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 18681052 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=96.11;MQ0=0;OQ=614.39;QD=11.82;RankSumP=0.358701;SB=-72.75;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.990T>A;refseq.codonCoord=330;refseq.end=18681052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1042;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A330A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1042;refseq.start=18681052;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 18681113 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=96.05;MQ0=0;OQ=1067.09;QD=15.69;RankSumP=0.458321;SB=-376.86;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1051A>C;refseq.codonCoord=351;refseq.end=18681113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_152375;refseq.name2=KLHDC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T351P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1103;refseq.start=18681113;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 18899826 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=99.00;MQ0=0;OQ=430.72;QD=7.98;RankSumP=0.388831;SB=-118.73;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.879A>G;refseq.codingCoordStr_2=c.879A>G;refseq.codingCoordStr_3=c.873A>G;refseq.codonCoord_1=293;refseq.codonCoord_2=293;refseq.codonCoord_3=291;refseq.end_1=18899826;refseq.end_2=18899826;refseq.end_3=18899826;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1477;refseq.mrnaCoord_2=1477;refseq.mrnaCoord_3=1471;refseq.name2_1=PAX7;refseq.name2_2=PAX7;refseq.name2_3=PAX7;refseq.name_1=NM_001135254;refseq.name_2=NM_002584;refseq.name_3=NM_013945;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P293P;refseq.proteinCoordStr_2=p.P293P;refseq.proteinCoordStr_3=p.P291P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=18899826;refseq.start_2=18899826;refseq.start_3=18899826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr1 19039315 . T G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.115244;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1885A>C;refseq.codonCoord=629;refseq.end=19039315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1886;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T629P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=294;refseq.start=19039315;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 19048433 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.58;MQ0=0;OQ=1463.17;QD=11.99;RankSumP=0.0492273;SB=-365.23;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1456A>G;refseq.codonCoord=486;refseq.end=19048433;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1457;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I486V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-12;refseq.start=19048433;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 19053602 . G C 143.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=2.74;MQ=98.22;MQ0=0;OQ=2467.44;QD=16.23;RankSumP=0.105861;SB=-1191.25;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.949C>G;refseq.codonCoord=317;refseq.end=19053602;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R317G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-309;refseq.start=19053602;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 19053669 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=1137.60;QD=11.73;RankSumP=0.222614;SB=-566.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.882T>G;refseq.codonCoord=294;refseq.end=19053669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T294T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-376;refseq.start=19053669;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr1 19053980 . T C 152.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=98.68;MQ0=0;OQ=3213.62;QD=14.48;RankSumP=0.228270;SB=-1183.66;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.571A>G;refseq.codonCoord=191;refseq.end=19053980;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I191V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=88;refseq.start=19053980;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 19056664 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=294;Dels=0.00;HRun=0;HaplotypeScore=16.52;MQ=98.52;MQ0=0;OQ=4447.40;QD=15.13;RankSumP=0.320459;SB=-1354.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.231T>C;refseq.codonCoord=77;refseq.end=19056664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F77F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=49;refseq.start=19056664;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 19058716 . G C 252.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=12.69;MQ=98.67;MQ0=0;OQ=6044.90;QD=22.98;RankSumP=0.163801;SB=-2306.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.26C>G;refseq.codonCoord=9;refseq.end=19058716;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=27;refseq.name=NM_152232;refseq.name2=TAS1R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S9C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=27;refseq.start=19058716;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 19074543 . A G 290.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2568.54;QD=33.36;RankSumP=1.00000;SB=-1276.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1200T>C;refseq.codingCoordStr_2=c.1380T>C;refseq.codingCoordStr_3=c.1380T>C;refseq.codonCoord_1=400;refseq.codonCoord_2=460;refseq.codonCoord_3=460;refseq.end_1=19074543;refseq.end_2=19074543;refseq.end_3=19074543;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1656;refseq.mrnaCoord_3=1656;refseq.name2_1=ALDH4A1;refseq.name2_2=ALDH4A1;refseq.name2_3=ALDH4A1;refseq.name_1=NM_001161504;refseq.name_2=NM_003748;refseq.name_3=NM_170726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D400D;refseq.proteinCoordStr_2=p.D460D;refseq.proteinCoordStr_3=p.D460D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=19074543;refseq.start_2=19074543;refseq.start_3=19074543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr1 19075483 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=96.50;MQ0=0;OQ=697.38;QD=23.25;RankSumP=0.709148;SB=-303.23;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1071C>T;refseq.codingCoordStr_2=c.1251C>T;refseq.codingCoordStr_3=c.1251C>T;refseq.codonCoord_1=357;refseq.codonCoord_2=417;refseq.codonCoord_3=417;refseq.end_1=19075483;refseq.end_2=19075483;refseq.end_3=19075483;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1387;refseq.mrnaCoord_2=1527;refseq.mrnaCoord_3=1527;refseq.name2_1=ALDH4A1;refseq.name2_2=ALDH4A1;refseq.name2_3=ALDH4A1;refseq.name_1=NM_001161504;refseq.name_2=NM_003748;refseq.name_3=NM_170726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A357A;refseq.proteinCoordStr_2=p.A417A;refseq.proteinCoordStr_3=p.A417A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.start_1=19075483;refseq.start_2=19075483;refseq.start_3=19075483;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr1 19075504 . T C 145.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=95.40;MQ0=0;OQ=403.72;QD=19.22;RankSumP=1.00000;SB=-111.04;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1050A>G;refseq.codingCoordStr_2=c.1230A>G;refseq.codingCoordStr_3=c.1230A>G;refseq.codonCoord_1=350;refseq.codonCoord_2=410;refseq.codonCoord_3=410;refseq.end_1=19075504;refseq.end_2=19075504;refseq.end_3=19075504;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1366;refseq.mrnaCoord_2=1506;refseq.mrnaCoord_3=1506;refseq.name2_1=ALDH4A1;refseq.name2_2=ALDH4A1;refseq.name2_3=ALDH4A1;refseq.name_1=NM_001161504;refseq.name_2=NM_003748;refseq.name_3=NM_170726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S350S;refseq.proteinCoordStr_2=p.S410S;refseq.proteinCoordStr_3=p.S410S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=19075504;refseq.start_2=19075504;refseq.start_3=19075504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=filterInsoap-gatk GT 1/1 chr1 19075513 . T C 147.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=14;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=94.54;MQ0=0;OQ=311.89;QD=18.35;RankSumP=1.00000;SB=-122.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1041A>G;refseq.codingCoordStr_2=c.1221A>G;refseq.codingCoordStr_3=c.1221A>G;refseq.codonCoord_1=347;refseq.codonCoord_2=407;refseq.codonCoord_3=407;refseq.end_1=19075513;refseq.end_2=19075513;refseq.end_3=19075513;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1497;refseq.mrnaCoord_3=1497;refseq.name2_1=ALDH4A1;refseq.name2_2=ALDH4A1;refseq.name2_3=ALDH4A1;refseq.name_1=NM_001161504;refseq.name_2=NM_003748;refseq.name_3=NM_170726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A347A;refseq.proteinCoordStr_2=p.A407A;refseq.proteinCoordStr_3=p.A407A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.start_1=19075513;refseq.start_2=19075513;refseq.start_3=19075513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=filterInsoap-gatk GT 1/1 chr1 19076584 . C G 142.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=2.75;MQ=99.00;MQ0=0;OQ=2037.66;QD=21.68;RankSumP=0.116785;SB=-983.85;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.870G>C;refseq.codingCoordStr_2=c.1050G>C;refseq.codingCoordStr_3=c.1050G>C;refseq.codonCoord_1=290;refseq.codonCoord_2=350;refseq.codonCoord_3=350;refseq.end_1=19076584;refseq.end_2=19076584;refseq.end_3=19076584;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1186;refseq.mrnaCoord_2=1326;refseq.mrnaCoord_3=1326;refseq.name2_1=ALDH4A1;refseq.name2_2=ALDH4A1;refseq.name2_3=ALDH4A1;refseq.name_1=NM_001161504;refseq.name_2=NM_003748;refseq.name_3=NM_170726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A290A;refseq.proteinCoordStr_2=p.A350A;refseq.proteinCoordStr_3=p.A350A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=19076584;refseq.start_2=19076584;refseq.start_3=19076584;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr1 19283716 . A G 366.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.89;MQ0=0;OQ=8882.60;QD=37.01;RankSumP=1.00000;SB=-3437.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.14877T>C;refseq.codonCoord=4959;refseq.end=19283716;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14881;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H4959H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=64;refseq.start=19283716;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 19283755 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.184102;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.14838T>C;refseq.codonCoord=4946;refseq.end=19283755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14842;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C4946C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=25;refseq.start=19283755;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr1 19285848 . T A 249.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=8.22;MQ=98.76;MQ0=0;OQ=8222.60;QD=38.97;RankSumP=1.00000;SB=-2997.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.14599A>T;refseq.codonCoord=4867;refseq.end=19285848;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=14603;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M4867L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=55;refseq.start=19285848;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 19287891 . C T 56.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=2;HaplotypeScore=3.95;MQ=98.93;MQ0=0;OQ=11524.02;QD=40.44;RankSumP=1.00000;SB=-4864.95;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.14379G>A;refseq.codonCoord=4793;refseq.end=19287891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14383;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4793K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-52;refseq.start=19287891;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 19288057 . A C 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.500005;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.14213T>G;refseq.codonCoord=4738;refseq.end=19288057;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14217;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4738G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=19288057;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap GT 0/1 chr1 19295691 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=6.62423e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.13431T>G;refseq.codonCoord=4477;refseq.end=19295691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=13435;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4477G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=41;refseq.start=19295691;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 19306036 . A G 211.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=98.74;MQ0=0;OQ=3849.82;QD=35.00;RankSumP=1.00000;SB=-1165.30;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.12117T>C;refseq.codonCoord=4039;refseq.end=19306036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12121;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4039V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=12;refseq.start=19306036;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 19314653 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10889A>C;refseq.codonCoord=3630;refseq.end=19314653;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10893;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3630A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=66;refseq.start=19314653;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 19320339 . G T 50 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.55032e-05;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10072C>A;refseq.codonCoord=3358;refseq.end=19320339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10076;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3358K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-70;refseq.start=19320339;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 19320406 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=94.73;MQ0=0;OQ=600.53;QD=12.51;RankSumP=0.752777;SB=-177.35;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10005A>G;refseq.codonCoord=3335;refseq.end=19320406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10009;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3335A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=110;refseq.start=19320406;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr1 19320430 . C G 318.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=95.24;MQ0=0;OQ=1611.99;QD=43.57;RankSumP=1.00000;SB=-658.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9981G>C;refseq.codonCoord=3327;refseq.end=19320430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9985;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3327L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=86;refseq.start=19320430;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 19338174 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=4.62741e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8721C>G;refseq.codonCoord=2907;refseq.end=19338174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8725;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2907G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-11;refseq.start=19338174;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 19347084 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7619A>C;refseq.codonCoord=2540;refseq.end=19347084;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7623;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2540P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-11;refseq.start=19347084;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 19364402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4240A>C;refseq.codonCoord=1414;refseq.end=19364402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4244;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1414P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=29;refseq.start=19364402;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 19372147 . T C 345.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.77;MQ0=0;OQ=4434.88;QD=19.20;RankSumP=0.0234507;SB=-1283.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3319A>G;refseq.codonCoord=1107;refseq.end=19372147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3323;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1107A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=28;refseq.start=19372147;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr1 19372541 . G A 166.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=99.00;MQ0=0;OQ=1290.46;QD=17.68;RankSumP=0.433365;SB=-628.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3144C>T;refseq.codonCoord=1048;refseq.end=19372541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3148;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1048S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-22;refseq.start=19372541;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 19396859 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.785A>C;refseq.codonCoord=262;refseq.end=19396859;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_020765;refseq.name2=UBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N262T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=34;refseq.start=19396859;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 19426426 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.306557;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2170C>T;refseq.codonCoord=724;refseq.end=19426426;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2213;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=CDS;refseq.proteinCoordStr=p.R724C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-33;refseq.start=19426426;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr1 19430033 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1956T>C;refseq.codonCoord=652;refseq.end=19430033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1999;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=CDS;refseq.proteinCoordStr=p.F652F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=12;refseq.start=19430033;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr1 19437925 . C T 164.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=1;HaplotypeScore=9.57;MQ=98.90;MQ0=0;OQ=7946.68;QD=21.02;RankSumP=0.387613;SB=-2471.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1040G>A;refseq.codonCoord=347;refseq.end=19437925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=CDS;refseq.proteinCoordStr=p.S347N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=14;refseq.start=19437925;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 19437931 . C G 132.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=18.50;MQ=98.89;MQ0=0;OQ=8473.00;QD=23.41;RankSumP=0.190487;SB=-2899.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1034G>C;refseq.codonCoord=345;refseq.end=19437931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=CDS;refseq.proteinCoordStr=p.S345T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=19437931;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 19439468 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=98.17;MQ0=0;OQ=1776.08;QD=11.24;RankSumP=0.148632;SB=-388.69;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.696G>A;refseq.codonCoord=232;refseq.end=19439468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=CDS;refseq.proteinCoordStr=p.E232E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=60;refseq.start=19439468;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 19442693 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr1;refseq.codingCoordStr=c.380+2;refseq.end=19442693;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_015047;refseq.name2=KIAA0090;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=19442693;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr1 19455126 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.185A>C;refseq.codonCoord=62;refseq.end=19455126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_016183;refseq.name2=MRTO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H62P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=19455126;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 19456591 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.54;MQ0=0;OQ=1351.07;QD=13.12;RankSumP=0.0590109;SB=-598.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.330G>A;refseq.codonCoord=110;refseq.end=19456591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_016183;refseq.name2=MRTO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-12;refseq.start=19456591;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 19457794 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=2;HaplotypeScore=16.74;MQ=97.85;MQ0=0;OQ=10695.21;QD=21.22;RankSumP=0.189994;SB=-3932.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=19457794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_016183;refseq.name2=MRTO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K201K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=33;refseq.start=19457794;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr1 19469599 . G C 44.67 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=151;Dels=0.00;HRun=1;HaplotypeScore=5.04;MQ=34.58;MQ0=12;QD=0.30;SB=-25.05;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.440C>G;refseq.codingCoordStr_2=c.440C>G;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.end_1=19469599;refseq.end_2=19469599;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=440;refseq.mrnaCoord_2=440;refseq.name2_1=AKR7L;refseq.name2_2=AKR7L;refseq.name_1=NM_001145289;refseq.name_2=NM_201252;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A147G;refseq.proteinCoordStr_2=p.A147G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=19469599;refseq.start_2=19469599;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:127,24:104:-39.07,-31.32,-471.49:77.50 chr1 19483828 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=401;Dels=0.00;HRun=1;HaplotypeScore=15.96;MQ=95.72;MQ0=4;OQ=8627.32;QD=21.51;RankSumP=0.353644;SB=-2735.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.643A>G;refseq.codonCoord=215;refseq.end=19483828;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_012067;refseq.name2=AKR7A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N215D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=39;refseq.start=19483828;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 19485064 . C T 38.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=36.73;MQ0=3;OQ=1263.03;QD=12.14;RankSumP=0.534928;SB=-300.79;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.412G>A;refseq.codonCoord=138;refseq.end=19485064;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_012067;refseq.name2=AKR7A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V138M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=19485064;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 19822649 . T C 195.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=91.37;MQ0=2;OQ=2814.07;QD=16.55;RankSumP=0.460871;SB=-897.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.207T>C;refseq.codonCoord=69;refseq.end=19822649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_001032363;refseq.name2=C1orf151;refseq.positionType=CDS;refseq.proteinCoordStr=p.H69H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-16;refseq.start=19822649;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 19864855 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.000631265;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.22A>C;refseq.codonCoord=8;refseq.end=19864855;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_000871;refseq.name2=HTR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T8P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=489;refseq.start=19864855;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 19893580 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.47;MQ0=0;OQ=374.12;QD=8.50;RankSumP=0.286991;SB=-135.62;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1434T>C;refseq.codonCoord=478;refseq.end=19893580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_181719;refseq.name2=TMCO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R478R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=52;refseq.start=19893580;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr1 19893581 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.47;MQ0=0;OQ=423.02;QD=9.61;RankSumP=0.638190;SB=-147.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1433G>A;refseq.codonCoord=478;refseq.end=19893581;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1675;refseq.name=NM_181719;refseq.name2=TMCO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R478H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=51;refseq.start=19893581;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 19970409 . G A 211.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.35;MQ0=0;OQ=11426.88;QD=41.10;RankSumP=1.00000;SB=-5288.83;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.333C>T;refseq.codonCoord=111;refseq.end=19970409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_181719;refseq.name2=TMCO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D111D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-22;refseq.start=19970409;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 19970518 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.224A>G;refseq.codonCoord=75;refseq.end=19970518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_181719;refseq.name2=TMCO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E75G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=45;refseq.start=19970518;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 19970528 . G T 102.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=4.56;MQ=97.46;MQ0=0;OQ=1504.00;QD=20.89;RankSumP=1.00000;SB=-444.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.214C>A;refseq.codonCoord=72;refseq.end=19970528;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_181719;refseq.name2=TMCO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q72K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=35;refseq.start=19970528;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 20013523 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.15811e-06;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.659A>C;refseq.codonCoord=220;refseq.end=20013523;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_019062;refseq.name2=RNF186;refseq.positionType=CDS;refseq.proteinCoordStr=p.H220P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-415;refseq.start=20013523;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 20013560 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=8.61;MQ=98.68;MQ0=0;OQ=1281.72;QD=10.25;RankSumP=0.139419;SB=-469.86;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.622C>A;refseq.codonCoord=208;refseq.end=20013560;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=799;refseq.name=NM_019062;refseq.name2=RNF186;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-452;refseq.start=20013560;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 20013870 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.31;MQ0=0;OQ=719.84;QD=12.85;RankSumP=0.504331;SB=-301.23;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.312G>A;refseq.codonCoord=104;refseq.end=20013870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_019062;refseq.name2=RNF186;refseq.positionType=CDS;refseq.proteinCoordStr=p.A104A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=489;refseq.start=20013870;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 20014115 . C T 109.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=95.84;MQ0=0;OQ=566.64;QD=13.18;RankSumP=0.540947;SB=-302.19;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.67G>A;refseq.codonCoord=23;refseq.end=20014115;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_019062;refseq.name2=RNF186;refseq.positionType=CDS;refseq.proteinCoordStr=p.A23T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=244;refseq.start=20014115;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 20096739 . G A 270 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=98.88;MQ0=0;OQ=6168.31;QD=19.64;RankSumP=0.236917;SB=-2114.49;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=20096739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_015207;refseq.name2=OTUD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T201T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=20096739;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 20177516 . G A 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=2;RankSumP=0.289860;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.129C>T;refseq.codingCoordStr_2=c.129C>T;refseq.codingCoordStr_3=c.129C>T;refseq.codingCoordStr_4=c.129C>T;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.codonCoord_3=43;refseq.codonCoord_4=43;refseq.end_1=20177516;refseq.end_2=20177516;refseq.end_3=20177516;refseq.end_4=20177516;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=424;refseq.mrnaCoord_2=393;refseq.mrnaCoord_3=313;refseq.mrnaCoord_4=347;refseq.name2_1=PLA2G2A;refseq.name2_2=PLA2G2A;refseq.name2_3=PLA2G2A;refseq.name2_4=PLA2G2A;refseq.name_1=NM_000300;refseq.name_2=NM_001161727;refseq.name_3=NM_001161728;refseq.name_4=NM_001161729;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F43F;refseq.proteinCoordStr_2=p.F43F;refseq.proteinCoordStr_3=p.F43F;refseq.proteinCoordStr_4=p.F43F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.start_1=20177516;refseq.start_2=20177516;refseq.start_3=20177516;refseq.start_4=20177516;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=soap GT 1/0 chr1 20314641 . T C 158.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=370;Dels=0.00;HRun=1;HaplotypeScore=5.14;MQ=98.77;MQ0=0;OQ=7002.16;QD=18.92;RankSumP=0.0140335;SB=-2771.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.238A>G;refseq.codonCoord=80;refseq.end=20314641;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_012400;refseq.name2=PLA2G2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S80G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=53;refseq.start=20314641;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 20699803 . C T 102.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=13.09;MQ=98.83;MQ0=0;OQ=5386.63;QD=20.25;RankSumP=0.432858;SB=-2274.73;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1026G>A;refseq.codonCoord=342;refseq.end=20699803;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_024544;refseq.name2=MUL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A342A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=697;refseq.start=20699803;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 20832817 . C T 5.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=92.14;MQ0=0;OQ=109.87;QD=21.97;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.189C>T;refseq.codonCoord=63;refseq.end=20832817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_032409;refseq.name2=PINK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L63L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-199;refseq.start=20832817;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/1 chr1 20836995 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.461A>G;refseq.codonCoord=154;refseq.end=20836995;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_032409;refseq.name2=PINK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E154G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=74;refseq.start=20836995;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 20860460 . G C 228.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=97.50;MQ0=0;OQ=1723.74;QD=39.18;RankSumP=1.00000;SB=-387.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.22C>G;refseq.codonCoord=8;refseq.end=20860460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_005216;refseq.name2=DDOST;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=165;refseq.start=20860460;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 20865406 . G C 161.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=9.72;MQ=98.46;MQ0=0;OQ=12262.17;QD=42.43;RankSumP=1.00000;SB=-4852.30;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2796C>G;refseq.codingCoordStr_2=c.2799C>G;refseq.codonCoord_1=932;refseq.codonCoord_2=933;refseq.end_1=20865406;refseq.end_2=20865406;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2914;refseq.mrnaCoord_2=2917;refseq.name2_1=KIF17;refseq.name2_2=KIF17;refseq.name_1=NM_001122819;refseq.name_2=NM_020816;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D932E;refseq.proteinCoordStr_2=p.D933E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=20865406;refseq.start_2=20865406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 20885150 . C T 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=136.91;QD=8.56;RankSumP=0.478896;SB=-42.64;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1995G>A;refseq.codingCoordStr_2=c.1995G>A;refseq.codonCoord_1=665;refseq.codonCoord_2=665;refseq.end_1=20885150;refseq.end_2=20885150;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2113;refseq.mrnaCoord_2=2113;refseq.name2_1=KIF17;refseq.name2_2=KIF17;refseq.name_1=NM_001122819;refseq.name_2=NM_020816;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A665A;refseq.proteinCoordStr_2=p.A665A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=20885150;refseq.start_2=20885150;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr1 20897488 . C T 362.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=98.84;MQ0=0;OQ=4976.56;QD=19.44;RankSumP=0.197781;SB=-1653.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1204G>A;refseq.codingCoordStr_2=c.1204G>A;refseq.codonCoord_1=402;refseq.codonCoord_2=402;refseq.end_1=20897488;refseq.end_2=20897488;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1322;refseq.mrnaCoord_2=1322;refseq.name2_1=KIF17;refseq.name2_2=KIF17;refseq.name_1=NM_001122819;refseq.name_2=NM_020816;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V402M;refseq.proteinCoordStr_2=p.V402M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=20897488;refseq.start_2=20897488;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr1 20923486 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.368T>G;refseq.codingCoordStr_2=c.620T>G;refseq.codonCoord_1=123;refseq.codonCoord_2=207;refseq.end_1=20923486;refseq.end_2=20923486;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=993;refseq.mrnaCoord_2=1122;refseq.name2_1=SH2D5;refseq.name2_2=SH2D5;refseq.name_1=NM_001103160;refseq.name_2=NM_001103161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V123G;refseq.proteinCoordStr_2=p.V207G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=20923486;refseq.start_2=20923486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 20923545 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=98.68;MQ0=0;OQ=819.66;QD=18.21;RankSumP=0.427261;SB=-141.14;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.309G>A;refseq.codingCoordStr_2=c.561G>A;refseq.codonCoord_1=103;refseq.codonCoord_2=187;refseq.end_1=20923545;refseq.end_2=20923545;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=934;refseq.mrnaCoord_2=1063;refseq.name2_1=SH2D5;refseq.name2_2=SH2D5;refseq.name_1=NM_001103160;refseq.name_2=NM_001103161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q103Q;refseq.proteinCoordStr_2=p.Q187Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=20923545;refseq.start_2=20923545;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr1 21009825 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4569A>C;refseq.codonCoord=1523;refseq.end=21009825;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5150;refseq.name=NM_003760;refseq.name2=EIF4G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1523H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=21009825;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr1 21039991 . A G 263.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=5.03;MQ=98.71;MQ0=0;OQ=16330.26;QD=40.52;RankSumP=1.00000;SB=-7285.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3838T>C;refseq.codonCoord=1280;refseq.end=21039991;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4419;refseq.name=NM_003760;refseq.name2=EIF4G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1280L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-56;refseq.start=21039991;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr1 21085313 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2224C>A;refseq.codonCoord=742;refseq.end=21085313;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2805;refseq.name=NM_003760;refseq.name2=EIF4G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q742K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-33;refseq.start=21085313;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 21471913 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.323A>C;refseq.codingCoordStr_2=c.311A>C;refseq.codingCoordStr_3=c.350A>C;refseq.codingCoordStr_4=c.359A>C;refseq.codonCoord_1=108;refseq.codonCoord_2=104;refseq.codonCoord_3=117;refseq.codonCoord_4=120;refseq.end_1=21471913;refseq.end_2=21471913;refseq.end_3=21471913;refseq.end_4=21471913;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=579;refseq.mrnaCoord_2=474;refseq.mrnaCoord_3=425;refseq.mrnaCoord_4=434;refseq.name2_1=ECE1;refseq.name2_2=ECE1;refseq.name2_3=ECE1;refseq.name2_4=ECE1;refseq.name_1=NM_001113347;refseq.name_2=NM_001113348;refseq.name_3=NM_001113349;refseq.name_4=NM_001397;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D108A;refseq.proteinCoordStr_2=p.D104A;refseq.proteinCoordStr_3=p.D117A;refseq.proteinCoordStr_4=p.D120A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.spliceDist_3=79;refseq.spliceDist_4=79;refseq.start_1=21471913;refseq.start_2=21471913;refseq.start_3=21471913;refseq.start_4=21471913;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr1 21667975 . A G 254.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.77;MQ0=0;OQ=2975.22;QD=18.48;RankSumP=0.107771;SB=-776.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.341A>G;refseq.codonCoord=114;refseq.end=21667975;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y114C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=21667975;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 21670711 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.265589;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.509A>G;refseq.codonCoord=170;refseq.end=21670711;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q170R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=63;refseq.start=21670711;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr1 21670741 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0735131;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.539A>G;refseq.codonCoord=180;refseq.end=21670741;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=889;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N180S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=93;refseq.start=21670741;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr1 21672511 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=883;Dels=0.00;HRun=1;HaplotypeScore=12.97;MQ=87.80;MQ0=83;OQ=15999.37;QD=18.12;RankSumP=0.0435458;SB=-6383.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.786G>A;refseq.codonCoord=262;refseq.end=21672511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E262E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=52;refseq.start=21672511;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 21680694 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.223875;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1451C>T;refseq.codonCoord=484;refseq.end=21680694;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1801;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P484L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=18;refseq.start=21680694;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr1 21680746 . G A 12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=291;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=17.62;MQ0=163;OQ=2870.73;QD=9.87;RankSumP=0.108392;SB=-944.94;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1503G>A;refseq.codonCoord=501;refseq.end=21680746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1853;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S501S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=70;refseq.start=21680746;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/0 chr1 21680794 . A C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.500000;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1551A>C;refseq.codonCoord=517;refseq.end=21680794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1901;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G517G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-56;refseq.start=21680794;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr1 21680810 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.500000;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1567T>C;refseq.codonCoord=523;refseq.end=21680810;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1917;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L523L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-40;refseq.start=21680810;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr1 21681601 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.753884;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1644G>C;refseq.codonCoord=548;refseq.end=21681601;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K548N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-15;refseq.start=21681601;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr1 21682337 . T C 130.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=69.76;MQ0=16;OQ=2223.13;QD=32.69;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1773T>C;refseq.codonCoord=591;refseq.end=21682337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2123;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y591Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=115;refseq.start=21682337;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 21682437 rs4466620 T C 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=737;Dels=0.00;HRun=2;HaplotypeScore=15.03;MQ=6.85;MQ0=729;OQ=152.89;QD=0.21;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1873T>C;refseq.codonCoord=625;refseq.end=21682437;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2223;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F625L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=215;refseq.start=21682437;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:206,530:7:-20.68,-2.11,-8.54:64.27 chr1 21682463 rs4291471 C G 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=797;Dels=0.00;HRun=0;HaplotypeScore=24.12;MQ=5.38;MQ0=781;OQ=64.41;QD=0.08;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1899C>G;refseq.codonCoord=633;refseq.end=21682463;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2249;refseq.name=NM_032264;refseq.name2=NBPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H633Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=241;refseq.start=21682463;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=gatk GT:AD:DP:GL:GQ 0/1:620,174:16:-14.54,-4.82,-68.50:97.24 chr1 21762222 . T C 149.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=97.86;MQ0=0;OQ=3570.32;QD=31.32;RankSumP=1.00000;SB=-1038.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.330T>C;refseq.codingCoordStr_2=c.330T>C;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=21762222;refseq.end_2=21762222;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=587;refseq.mrnaCoord_2=549;refseq.name2_1=ALPL;refseq.name2_2=ALPL;refseq.name_1=NM_000478;refseq.name_2=NM_001127501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S110S;refseq.proteinCoordStr_2=p.S110S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=21762222;refseq.start_2=21762222;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr1 21776718 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=2.22;MQ=97.50;MQ0=0;OQ=264.32;QD=11.49;RankSumP=0.108473;SB=-44.67;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1565T>C;refseq.codingCoordStr_2=c.1565T>C;refseq.codonCoord_1=522;refseq.codonCoord_2=522;refseq.end_1=21776718;refseq.end_2=21776718;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1822;refseq.mrnaCoord_2=1784;refseq.name2_1=ALPL;refseq.name2_2=ALPL;refseq.name_1=NM_000478;refseq.name_2=NM_001127501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V522A;refseq.proteinCoordStr_2=p.V522A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=256;refseq.spliceDist_2=256;refseq.start_1=21776718;refseq.start_2=21776718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr1 21813142 . C T 149.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=97.92;MQ0=0;OQ=1457.90;QD=13.38;RankSumP=0.115108;SB=-400.34;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.319G>A;refseq.codingCoordStr_2=c.511G>A;refseq.codingCoordStr_3=c.319G>A;refseq.codonCoord_1=107;refseq.codonCoord_2=171;refseq.codonCoord_3=107;refseq.end_1=21813142;refseq.end_2=21813142;refseq.end_3=21813142;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=684;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=577;refseq.name2_1=RAP1GAP;refseq.name2_2=RAP1GAP;refseq.name2_3=RAP1GAP;refseq.name_1=NM_001145657;refseq.name_2=NM_001145658;refseq.name_3=NM_002885;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A107T;refseq.proteinCoordStr_2=p.A171T;refseq.proteinCoordStr_3=p.A107T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=21813142;refseq.start_2=21813142;refseq.start_3=21813142;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr1 21816407 . G A 181.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=528.10;QD=17.04;RankSumP=0.360552;SB=-271.78;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.270C>T;refseq.codingCoordStr_2=c.462C>T;refseq.codingCoordStr_3=c.270C>T;refseq.codonCoord_1=90;refseq.codonCoord_2=154;refseq.codonCoord_3=90;refseq.end_1=21816407;refseq.end_2=21816407;refseq.end_3=21816407;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=635;refseq.mrnaCoord_2=495;refseq.mrnaCoord_3=528;refseq.name2_1=RAP1GAP;refseq.name2_2=RAP1GAP;refseq.name2_3=RAP1GAP;refseq.name_1=NM_001145657;refseq.name_2=NM_001145658;refseq.name_3=NM_002885;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y90Y;refseq.proteinCoordStr_2=p.Y154Y;refseq.proteinCoordStr_3=p.Y90Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=21816407;refseq.start_2=21816407;refseq.start_3=21816407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr1 21818117 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.16;MQ0=0;OQ=423.64;QD=9.01;RankSumP=0.724131;SB=-133.65;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.54G>A;refseq.codingCoordStr_2=c.246G>A;refseq.codingCoordStr_3=c.54G>A;refseq.codonCoord_1=18;refseq.codonCoord_2=82;refseq.codonCoord_3=18;refseq.end_1=21818117;refseq.end_2=21818117;refseq.end_3=21818117;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=279;refseq.mrnaCoord_3=312;refseq.name2_1=RAP1GAP;refseq.name2_2=RAP1GAP;refseq.name2_3=RAP1GAP;refseq.name_1=NM_001145657;refseq.name_2=NM_001145658;refseq.name_3=NM_002885;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P18P;refseq.proteinCoordStr_2=p.P82P;refseq.proteinCoordStr_3=p.P18P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=21818117;refseq.start_2=21818117;refseq.start_3=21818117;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr1 21981957 . G A 260.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.21;MQ0=0;OQ=659.71;QD=34.72;RankSumP=1.00000;SB=-284.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.81C>T;refseq.codingCoordStr_2=c.81C>T;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=21981957;refseq.end_2=21981957;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=319;refseq.mrnaCoord_2=319;refseq.name2_1=USP48;refseq.name2_2=USP48;refseq.name_1=NM_001032730;refseq.name_2=NM_032236;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H27H;refseq.proteinCoordStr_2=p.H27H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=21981957;refseq.start_2=21981957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr1 22013793 . A C 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=123.82;QD=24.76;RankSumP=1.00000;SB=-89.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.401A>C;refseq.codonCoord=134;refseq.end=22013793;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_001013693;refseq.name2=LDLRAD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N134T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-111;refseq.start=22013793;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr1 22015061 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.550T>G;refseq.codonCoord=184;refseq.end=22015061;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_001013693;refseq.name2=LDLRAD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C184G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=39;refseq.start=22015061;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 22029118 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=1.18573e-06;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11725A>C;refseq.codonCoord=3909;refseq.end=22029118;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11765;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3909P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-46;refseq.start=22029118;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 22032601 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10924A>C;refseq.codonCoord=3642;refseq.end=22032601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10964;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3642P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=22032601;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 22047738 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7722A>C;refseq.codonCoord=2574;refseq.end=22047738;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7762;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2574F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-16;refseq.start=22047738;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr1 22058700 . T G 70 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=65;Dels=0.00;HRun=2;HaplotypeScore=11.30;MQ=96.67;MQ0=0;QD=0.71;RankSumP=2.65575e-06;SB=74.24;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5239A>C;refseq.codonCoord=1747;refseq.end=22058700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5279;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1747P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=22058700;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 22064041 . G A 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.44;MQ0=0;OQ=463.77;QD=27.28;RankSumP=1.00000;SB=-181.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4508C>T;refseq.codonCoord=1503;refseq.end=22064041;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4548;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1503V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=113;refseq.start=22064041;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 22072469 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3779G>C;refseq.codonCoord=1260;refseq.end=22072469;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3819;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1260A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-15;refseq.start=22072469;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 22079236 . T C 394.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.81;MQ0=0;OQ=6103.07;QD=36.77;RankSumP=1.00000;SB=-1561.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2294A>G;refseq.codonCoord=765;refseq.end=22079236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2334;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N765S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-50;refseq.start=22079236;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 22079529 . G A 429.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.09;MQ0=0;OQ=6324.77;QD=36.99;RankSumP=1.00000;SB=-1839.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2109C>T;refseq.codonCoord=703;refseq.end=22079529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2149;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A703A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-87;refseq.start=22079529;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 22079822 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=97.80;MQ0=0;OQ=1303.38;QD=28.33;RankSumP=1.00000;SB=-565.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1912A>G;refseq.codonCoord=638;refseq.end=22079822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1952;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M638V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-87;refseq.start=22079822;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 22086714 . A G 388.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.43;MQ0=0;OQ=3543.58;QD=35.08;RankSumP=1.00000;SB=-1320.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.744T>C;refseq.codonCoord=248;refseq.end=22086714;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L248L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=41;refseq.start=22086714;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 22089695 . G A 101.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=130;Dels=0.00;HRun=2;HaplotypeScore=6.63;MQ=98.49;MQ0=0;OQ=4977.72;QD=38.29;RankSumP=1.00000;SB=-1715.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.324C>T;refseq.codonCoord=108;refseq.end=22089695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_005529;refseq.name2=HSPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F108F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-31;refseq.start=22089695;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 22179927 . C T 100.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=48.06;MQ0=31;OQ=1124.72;QD=14.61;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.153C>T;refseq.codonCoord=51;refseq.end=22179927;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S51S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=24;refseq.start=22179927;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 22179945 . C G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=18.33;MQ=49.92;MQ0=35;OQ=1398.46;QD=13.07;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.171C>G;refseq.codonCoord=57;refseq.end=22179945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T57T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=42;refseq.start=22179945;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 22180125 . C T 404.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.05;MQ0=0;OQ=2967.57;QD=39.57;RankSumP=1.00000;SB=-791.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.235C>T;refseq.codonCoord=79;refseq.end=22180125;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R79W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=22180125;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr1 22182849 . G C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=2;HaplotypeScore=6.06;MQ=33.26;MQ0=87;OQ=3990.08;QD=17.81;RankSumP=1.00000;SB=-293.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.438G>C;refseq.codonCoord=146;refseq.end=22182849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P146P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-62;refseq.start=22182849;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 22183312 . G C 95.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=162;Dels=0.00;HRun=2;HaplotypeScore=4.55;MQ=91.80;MQ0=0;OQ=6640.09;QD=40.99;RankSumP=1.00000;SB=-1830.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.543G>C;refseq.codonCoord=181;refseq.end=22183312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P181P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=44;refseq.start=22183312;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 22183411 . T C 297.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=8.81;MQ=54.14;MQ0=156;OQ=8308.83;QD=18.97;RankSumP=1.00000;SB=-2920.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.642T>C;refseq.codonCoord=214;refseq.end=22183411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N214N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=22183411;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 22185748 . T C 103.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=82.51;MQ0=20;OQ=4593.61;QD=30.02;RankSumP=1.00000;SB=-1394.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.780T>C;refseq.codonCoord=260;refseq.end=22185748;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_007352;refseq.name2=CELA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I260I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-16;refseq.start=22185748;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 22204595 . T C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=606;Dels=0.00;HRun=0;HaplotypeScore=71.55;MQ=57.39;MQ0=102;OQ=1354.92;QD=2.24;RankSumP=0.374199;SB=105.76;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.198T>C;refseq.codonCoord=66;refseq.end=22204595;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_005747;refseq.name2=CELA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D66D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-30;refseq.start=22204595;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/0 chr1 22204835 . G C 10.81 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=248;Dels=0.00;HRun=0;HaplotypeScore=17.41;MQ=81.47;MQ0=23;QD=0.04;SB=170.55;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.321G>C;refseq.codonCoord=107;refseq.end=22204835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_005747;refseq.name2=CELA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L107L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-42;refseq.start=22204835;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:228,13:182:-59.17,-54.85,-804.99:43.27 chr1 22208864 . C G 316.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=84.78;MQ0=8;OQ=10024.27;QD=37.54;RankSumP=1.00000;SB=-3473.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.722C>G;refseq.codonCoord=241;refseq.end=22208864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_005747;refseq.name2=CELA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A241G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-74;refseq.start=22208864;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 22208892 . C T 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=32.29;MQ=84.60;MQ0=11;OQ=8003.59;QD=33.91;RankSumP=1.00000;SB=-2550.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.750C>T;refseq.codonCoord=250;refseq.end=22208892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_005747;refseq.name2=CELA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P250P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-46;refseq.start=22208892;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 22208895 . G A 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=31.19;MQ=83.73;MQ0=12;OQ=8067.23;QD=34.62;RankSumP=1.00000;SB=-2394.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.753G>A;refseq.codonCoord=251;refseq.end=22208895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_005747;refseq.name2=CELA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T251T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-43;refseq.start=22208895;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 22708264 . A G 295.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=550;Dels=0.00;HRun=0;HaplotypeScore=9.53;MQ=98.78;MQ0=0;OQ=10437.83;QD=18.98;RankSumP=0.317750;SB=-3405.52;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1784A>G;refseq.codingCoordStr_2=c.1784A>G;refseq.codonCoord_1=595;refseq.codonCoord_2=595;refseq.end_1=22708264;refseq.end_2=22708264;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2295;refseq.mrnaCoord_2=2007;refseq.name2_1=ZBTB40;refseq.name2_2=ZBTB40;refseq.name_1=NM_001083621;refseq.name_2=NM_014870;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y595C;refseq.proteinCoordStr_2=p.Y595C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=22708264;refseq.start_2=22708264;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr1 22719296 . G A 434.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=98.60;MQ0=0;OQ=6519.97;QD=40.50;RankSumP=1.00000;SB=-3215.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2989G>A;refseq.codingCoordStr_2=c.2989G>A;refseq.codonCoord_1=997;refseq.codonCoord_2=997;refseq.end_1=22719296;refseq.end_2=22719296;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3500;refseq.mrnaCoord_2=3212;refseq.name2_1=ZBTB40;refseq.name2_2=ZBTB40;refseq.name_1=NM_001083621;refseq.name_2=NM_014870;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V997M;refseq.proteinCoordStr_2=p.V997M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=22719296;refseq.start_2=22719296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr1 22725302 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=2;HaplotypeScore=4.64;MQ=98.61;MQ0=0;OQ=4538.25;QD=19.23;RankSumP=0.170187;SB=-1356.22;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3546G>C;refseq.codingCoordStr_2=c.3546G>C;refseq.codonCoord_1=1182;refseq.codonCoord_2=1182;refseq.end_1=22725302;refseq.end_2=22725302;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4057;refseq.mrnaCoord_2=3769;refseq.name2_1=ZBTB40;refseq.name2_2=ZBTB40;refseq.name_1=NM_001083621;refseq.name_2=NM_014870;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1182P;refseq.proteinCoordStr_2=p.P1182P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=22725302;refseq.start_2=22725302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr1 22788340 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=8.01;MQ=98.30;MQ0=0;OQ=3706.34;QD=37.06;RankSumP=1.00000;SB=-738.92;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1369T>C;refseq.codonCoord_2=457;refseq.end_1=22792395;refseq.end_2=22788340;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1494;refseq.name2_1=EPHA8;refseq.name2_2=EPHA8;refseq.name_1=NM_020526;refseq.name_2=NM_001006943;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S457P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_2=-360;refseq.start_1=22788297;refseq.start_2=22788340;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr1 22792475 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1385A>G;refseq.codonCoord=462;refseq.end=22792475;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_020526;refseq.name2=EPHA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E462G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-56;refseq.start=22792475;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr1 22792681 . C G 300.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.62;MQ0=0;OQ=2313.62;QD=39.89;RankSumP=1.00000;SB=-822.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1518C>G;refseq.codonCoord=506;refseq.end=22792681;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1643;refseq.name=NM_020526;refseq.name2=EPHA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T506T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=78;refseq.start=22792681;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 22799828 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=97.76;MQ0=0;OQ=929.31;QD=14.52;RankSumP=0.0446368;SB=-438.41;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2476G>A;refseq.codonCoord=826;refseq.end=22799828;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2601;refseq.name=NM_020526;refseq.name2=EPHA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V826M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-63;refseq.start=22799828;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr1 22984091 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.746T>G;refseq.codingCoordStr_2=c.746T>G;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.end_1=22984091;refseq.end_2=22984091;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=891;refseq.mrnaCoord_2=891;refseq.name2_1=EPHB2;refseq.name2_2=EPHB2;refseq.name_1=NM_004442;refseq.name_2=NM_017449;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V249G;refseq.proteinCoordStr_2=p.V249G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=22984091;refseq.start_2=22984091;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 22984093 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.748C>G;refseq.codingCoordStr_2=c.748C>G;refseq.codonCoord_1=250;refseq.codonCoord_2=250;refseq.end_1=22984093;refseq.end_2=22984093;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=893;refseq.mrnaCoord_2=893;refseq.name2_1=EPHB2;refseq.name2_2=EPHB2;refseq.name_1=NM_004442;refseq.name_2=NM_017449;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P250A;refseq.proteinCoordStr_2=p.P250A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=22984093;refseq.start_2=22984093;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr1 23081512 . G A 144.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=13.13;MQ=99.00;MQ0=0;OQ=2830.60;QD=15.47;RankSumP=0.364384;SB=-1195.02;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1377G>A;refseq.codingCoordStr_2=c.1377G>A;refseq.codonCoord_1=459;refseq.codonCoord_2=459;refseq.end_1=23081512;refseq.end_2=23081512;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1522;refseq.mrnaCoord_2=1522;refseq.name2_1=EPHB2;refseq.name2_2=EPHB2;refseq.name_1=NM_004442;refseq.name_2=NM_017449;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P459P;refseq.proteinCoordStr_2=p.P459P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=23081512;refseq.start_2=23081512;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr1 23091985 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1450A>C;refseq.codingCoordStr_2=c.1450A>C;refseq.codonCoord_1=484;refseq.codonCoord_2=484;refseq.end_1=23091985;refseq.end_2=23091985;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1595;refseq.mrnaCoord_2=1595;refseq.name2_1=EPHB2;refseq.name2_2=EPHB2;refseq.name_1=NM_004442;refseq.name_2=NM_017449;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T484P;refseq.proteinCoordStr_2=p.T484P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=23091985;refseq.start_2=23091985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr1 23092080 . T C 156.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=10.85;MQ=98.63;MQ0=0;OQ=13483.94;QD=37.15;RankSumP=1.00000;SB=-6344.29;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1545T>C;refseq.codingCoordStr_2=c.1545T>C;refseq.codonCoord_1=515;refseq.codonCoord_2=515;refseq.end_1=23092080;refseq.end_2=23092080;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1690;refseq.mrnaCoord_2=1690;refseq.name2_1=EPHB2;refseq.name2_2=EPHB2;refseq.name_1=NM_004442;refseq.name_2=NM_017449;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G515G;refseq.proteinCoordStr_2=p.G515G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=23092080;refseq.start_2=23092080;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 23278176 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1974A>C;refseq.codingCoordStr_2=c.1902A>C;refseq.codonCoord_1=658;refseq.codonCoord_2=634;refseq.end_1=23278176;refseq.end_2=23278176;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2123;refseq.mrnaCoord_2=2051;refseq.name2_1=KDM1A;refseq.name2_2=KDM1A;refseq.name_1=NM_001009999;refseq.name_2=NM_015013;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P658P;refseq.proteinCoordStr_2=p.P634P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=23278176;refseq.start_2=23278176;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 23278634 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2057T>G;refseq.codingCoordStr_2=c.1985T>G;refseq.codonCoord_1=686;refseq.codonCoord_2=662;refseq.end_1=23278634;refseq.end_2=23278634;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2206;refseq.mrnaCoord_2=2134;refseq.name2_1=KDM1A;refseq.name2_2=KDM1A;refseq.name_1=NM_001009999;refseq.name_2=NM_015013;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V686G;refseq.proteinCoordStr_2=p.V662G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=23278634;refseq.start_2=23278634;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 23280554 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2199A>G;refseq.codingCoordStr_2=c.2127A>G;refseq.codonCoord_1=733;refseq.codonCoord_2=709;refseq.end_1=23280554;refseq.end_2=23280554;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2348;refseq.mrnaCoord_2=2276;refseq.name2_1=KDM1A;refseq.name2_2=KDM1A;refseq.name_1=NM_001009999;refseq.name_2=NM_015013;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G733G;refseq.proteinCoordStr_2=p.G709G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=23280554;refseq.start_2=23280554;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 23290740 . C T 342.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=99.00;MQ0=0;OQ=7003.64;QD=39.13;RankSumP=1.00000;SB=-3248.11;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2602G>A;refseq.codingCoordStr_2=c.2602G>A;refseq.codonCoord_1=868;refseq.codonCoord_2=868;refseq.end_1=23290740;refseq.end_2=23290740;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2920;refseq.mrnaCoord_2=2986;refseq.name2_1=LUZP1;refseq.name2_2=LUZP1;refseq.name_1=NM_001142546;refseq.name_2=NM_033631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D868N;refseq.proteinCoordStr_2=p.D868N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-471;refseq.spliceDist_2=-471;refseq.start_1=23290740;refseq.start_2=23290740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr1 23291848 . G A 291.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=8.39;MQ=98.70;MQ0=0;OQ=9008.59;QD=38.33;RankSumP=1.00000;SB=-3390.55;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1494C>T;refseq.codingCoordStr_2=c.1494C>T;refseq.codonCoord_1=498;refseq.codonCoord_2=498;refseq.end_1=23291848;refseq.end_2=23291848;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1812;refseq.mrnaCoord_2=1878;refseq.name2_1=LUZP1;refseq.name2_2=LUZP1;refseq.name_1=NM_001142546;refseq.name_2=NM_033631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S498S;refseq.proteinCoordStr_2=p.S498S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-1579;refseq.spliceDist_2=-1579;refseq.start_1=23291848;refseq.start_2=23291848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr1 23291961 . G T 192.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=1765.62;QD=36.03;RankSumP=1.00000;SB=-277.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1381C>A;refseq.codingCoordStr_2=c.1381C>A;refseq.codonCoord_1=461;refseq.codonCoord_2=461;refseq.end_1=23291961;refseq.end_2=23291961;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1699;refseq.mrnaCoord_2=1765;refseq.name2_1=LUZP1;refseq.name2_2=LUZP1;refseq.name_1=NM_001142546;refseq.name_2=NM_033631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q461K;refseq.proteinCoordStr_2=p.Q461K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=1500;refseq.spliceDist_2=1500;refseq.start_1=23291961;refseq.start_2=23291961;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 23291970 . C T 329.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=1913.20;QD=40.71;RankSumP=1.00000;SB=-272.33;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1372G>A;refseq.codingCoordStr_2=c.1372G>A;refseq.codonCoord_1=458;refseq.codonCoord_2=458;refseq.end_1=23291970;refseq.end_2=23291970;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1690;refseq.mrnaCoord_2=1756;refseq.name2_1=LUZP1;refseq.name2_2=LUZP1;refseq.name_1=NM_001142546;refseq.name_2=NM_033631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G458S;refseq.proteinCoordStr_2=p.G458S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=1491;refseq.spliceDist_2=1491;refseq.start_1=23291970;refseq.start_2=23291970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr1 23292442 . T C 262.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.89;MQ0=0;OQ=17274.51;QD=39.35;RankSumP=1.00000;SB=-5942.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.900A>G;refseq.codingCoordStr_2=c.900A>G;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=23292442;refseq.end_2=23292442;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1218;refseq.mrnaCoord_2=1284;refseq.name2_1=LUZP1;refseq.name2_2=LUZP1;refseq.name_1=NM_001142546;refseq.name_2=NM_033631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T300T;refseq.proteinCoordStr_2=p.T300T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1019;refseq.spliceDist_2=1019;refseq.start_1=23292442;refseq.start_2=23292442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr1 23510056 . G T 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=187;Dels=0.00;HRun=1;HaplotypeScore=16.99;MQ=97.87;MQ0=0;OQ=281.77;QD=1.51;RankSumP=0.00000;SB=224.77;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1077C>A;refseq.codingCoordStr_2=c.1389C>A;refseq.codingCoordStr_3=c.1086C>A;refseq.codingCoordStr_4=c.1380C>A;refseq.codonCoord_1=359;refseq.codonCoord_2=463;refseq.codonCoord_3=362;refseq.codonCoord_4=460;refseq.end_1=23510056;refseq.end_2=23510056;refseq.end_3=23510056;refseq.end_4=23510056;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1373;refseq.mrnaCoord_2=1548;refseq.mrnaCoord_3=1382;refseq.mrnaCoord_4=1539;refseq.name2_1=HNRNPR;refseq.name2_2=HNRNPR;refseq.name2_3=HNRNPR;refseq.name2_4=HNRNPR;refseq.name_1=NM_001102397;refseq.name_2=NM_001102398;refseq.name_3=NM_001102399;refseq.name_4=NM_005826;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y359*;refseq.proteinCoordStr_2=p.Y463*;refseq.proteinCoordStr_3=p.Y362*;refseq.proteinCoordStr_4=p.Y460*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.spliceDist_3=91;refseq.spliceDist_4=91;refseq.start_1=23510056;refseq.start_2=23510056;refseq.start_3=23510056;refseq.start_4=23510056;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;set=FilteredInAll GT 0/1 chr1 23561469 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.993G>A;refseq.codingCoordStr_2=c.993G>A;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=23561469;refseq.end_2=23561469;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1552;refseq.mrnaCoord_2=1374;refseq.name2_1=ZNF436;refseq.name2_2=ZNF436;refseq.name_1=NM_001077195;refseq.name_2=NM_030634;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E331E;refseq.proteinCoordStr_2=p.E331E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=833;refseq.spliceDist_2=833;refseq.start_1=23561469;refseq.start_2=23561469;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr1 23568739 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=98.66;MQ0=0;OQ=2383.08;QD=31.36;RankSumP=1.00000;SB=-277.65;SecondBestBaseQ=3;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.-354C>T;refseq.codingCoordStr_3=c.362G>A;refseq.codonCoord_3=121;refseq.end_1=23570208;refseq.end_2=23568739;refseq.end_3=23568739;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=206;refseq.mrnaCoord_3=689;refseq.name2_1=C1orf213;refseq.name2_2=ZNF436;refseq.name2_3=C1orf213;refseq.name_1=NM_001008896;refseq.name_2=NM_001077195;refseq.name_3=NM_138479;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R121Q;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGA;refseq.spliceDist_2=206;refseq.spliceDist_3=689;refseq.start_1=23568604;refseq.start_2=23568739;refseq.start_3=23568739;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gln;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr1 23640783 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=235;Dels=0.00;HRun=0;HaplotypeScore=4.75;MQ=98.74;MQ0=0;OQ=4050.86;QD=17.24;RankSumP=0.124328;SB=-1380.10;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.672C>T;refseq.codingCoordStr_2=c.699C>T;refseq.codonCoord_1=224;refseq.codonCoord_2=233;refseq.end_1=23640783;refseq.end_2=23640783;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=796;refseq.mrnaCoord_2=823;refseq.name2_1=ASAP3;refseq.name2_2=ASAP3;refseq.name_1=NM_001143778;refseq.name_2=NM_017707;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A224A;refseq.proteinCoordStr_2=p.A233A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=23640783;refseq.start_2=23640783;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr1 23758085 . T C 427.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.70;MQ0=0;OQ=3428.64;QD=36.47;RankSumP=1.00000;SB=-1494.35;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.313A>G;refseq.codonCoord=105;refseq.end=23758085;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=718;refseq.name=NM_002167;refseq.name2=ID3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=13;refseq.start=23758085;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 23950038 . C T 255.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=98.53;MQ0=0;OQ=1451.67;QD=15.44;RankSumP=0.485196;SB=-728.21;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.434C>T;refseq.codonCoord=145;refseq.end=23950038;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_003198;refseq.name2=TCEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T145M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=117;refseq.start=23950038;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 24007308 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=615;Dels=0.00;HRun=0;HaplotypeScore=18.97;MQ=98.89;MQ0=0;OQ=23551.04;QD=38.29;RankSumP=1.00000;SB=-11071.12;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.654A>G;refseq.codingCoordStr_2=c.441A>G;refseq.codonCoord_1=218;refseq.codonCoord_2=147;refseq.end_1=24007308;refseq.end_2=24007308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=698;refseq.mrnaCoord_2=485;refseq.name2_1=HMGCL;refseq.name2_2=HMGCL;refseq.name_1=NM_000191;refseq.name_2=NM_001166059;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L218L;refseq.proteinCoordStr_2=p.L147L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=24007308;refseq.start_2=24007308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr1 24045227 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=5.39241e-09;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1184T>G;refseq.codonCoord=395;refseq.end=24045227;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1267;refseq.name=NM_000147;refseq.name2=FUCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V395G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=24;refseq.start=24045227;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 24062307 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.566T>C;refseq.codonCoord=189;refseq.end=24062307;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_000147;refseq.name2=FUCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F189S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=42;refseq.start=24062307;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr1 24073681 . G C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=97.74;MQ0=0;OQ=3858.73;QD=44.87;RankSumP=1.00000;SB=-1716.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1014C>G;refseq.codonCoord=338;refseq.end=24073681;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T338T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-634;refseq.start=24073681;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 24073696 . C T 204.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.49;MQ0=0;OQ=2992.74;QD=41.57;RankSumP=1.00000;SB=-1471.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.999G>A;refseq.codonCoord=333;refseq.end=24073696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P333P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-649;refseq.start=24073696;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 24073849 . A G 242.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=1.88;MQ=98.86;MQ0=0;OQ=6478.63;QD=42.34;RankSumP=1.00000;SB=-3018.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.846T>C;refseq.codonCoord=282;refseq.end=24073849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=973;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A282A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-802;refseq.start=24073849;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 24073944 . A G 232.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.35;MQ0=0;OQ=5530.26;QD=35.45;RankSumP=1.00000;SB=-2619.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.751T>C;refseq.codonCoord=251;refseq.end=24073944;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L251L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=796;refseq.start=24073944;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 24074035 . C T 332.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.86;MQ0=0;OQ=4897.02;QD=39.81;RankSumP=1.00000;SB=-2191.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.660G>A;refseq.codonCoord=220;refseq.end=24074035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V220V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=705;refseq.start=24074035;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 24074230 . G A 259.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.41;MQ0=0;OQ=4736.76;QD=38.83;RankSumP=1.00000;SB=-2070.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=24074230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G155G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=510;refseq.start=24074230;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 24074506 . T C 221.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=97.41;MQ0=0;OQ=4305.30;QD=33.90;RankSumP=1.00000;SB=-1479.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.189A>G;refseq.codonCoord=63;refseq.end=24074506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q63Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=234;refseq.start=24074506;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 24074507 . T C 212.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=97.65;MQ0=0;OQ=4421.77;QD=32.75;RankSumP=1.00000;SB=-1251.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.188A>G;refseq.codonCoord=63;refseq.end=24074507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_001841;refseq.name2=CNR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q63R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=233;refseq.start=24074507;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 24160695 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.725968;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.161C>G;refseq.codonCoord=54;refseq.end=24160695;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_017761;refseq.name2=PNRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A54G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=179;refseq.start=24160695;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap GT 1/0 chr1 24160712 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.506882;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.178C>A;refseq.codonCoord=60;refseq.end=24160712;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_017761;refseq.name2=PNRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q60K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=196;refseq.start=24160712;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr1 24160780 . G C 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.591919;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.246G>C;refseq.codonCoord=82;refseq.end=24160780;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_017761;refseq.name2=PNRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R82S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=264;refseq.start=24160780;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 0/1 chr1 24266150 . C T 151.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.51;MQ0=0;OQ=686.06;QD=14.29;RankSumP=0.524006;SB=-313.75;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3371G>A;refseq.codonCoord=1124;refseq.end=24266150;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3534;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1124Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=16;refseq.start=24266150;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 24267398 . A G 209.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=98.83;MQ0=0;OQ=4206.58;QD=17.98;RankSumP=0.384300;SB=-861.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3197T>C;refseq.codonCoord=1066;refseq.end=24267398;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3360;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1066T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=47;refseq.start=24267398;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 24273260 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2945C>A;refseq.codonCoord=982;refseq.end=24273260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3108;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A982E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-24;refseq.start=24273260;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr1 24281752 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=10.58;MQ=98.43;MQ0=0;OQ=984.91;QD=10.94;RankSumP=0.0166731;SB=-436.88;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2010G>A;refseq.codonCoord=670;refseq.end=24281752;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2173;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E670E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=40;refseq.start=24281752;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 24288646 . T C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=1.59;MQ=99.00;MQ0=0;OQ=1274.43;QD=36.41;RankSumP=1.00000;SB=-656.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1583A>G;refseq.codonCoord=528;refseq.end=24288646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D528G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-32;refseq.start=24288646;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 24288720 . C T 132.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.98;MQ0=0;OQ=704.82;QD=14.68;RankSumP=0.102608;SB=-276.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1509G>A;refseq.codonCoord=503;refseq.end=24288720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1672;refseq.name=NM_152372;refseq.name2=MYOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P503P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=23;refseq.start=24288720;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 24320530 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.02;MQ0=0;OQ=944.07;QD=20.52;RankSumP=0.686157;SB=-444.82;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1077C>T;refseq.codonCoord=359;refseq.end=24320530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_021258;refseq.name2=IL22RA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V359V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=285;refseq.start=24320530;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 24327275 . C T 329.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=98.78;MQ0=0;OQ=5151.82;QD=19.81;RankSumP=0.345773;SB=-1469.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.613G>A;refseq.codonCoord=205;refseq.end=24327275;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_021258;refseq.name2=IL22RA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V205I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-58;refseq.start=24327275;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 24333384 . T G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=2;HaplotypeScore=6.92;MQ=98.65;MQ0=0;OQ=8702.00;QD=40.10;RankSumP=1.00000;SB=-4120.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.435A>C;refseq.codonCoord=145;refseq.end=24333384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_021258;refseq.name2=IL22RA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P145P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=80;refseq.start=24333384;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 24356695 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=137;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.93;MQ0=0;OQ=2225.97;QD=16.25;RankSumP=0.133686;SB=-366.86;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1075C>T;refseq.codingCoordStr_2=c.988C>T;refseq.codingCoordStr_3=c.*209C>T;refseq.codonCoord_1=359;refseq.codonCoord_2=330;refseq.end_1=24356695;refseq.end_2=24356695;refseq.end_3=24356695;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1088;refseq.mrnaCoord_2=1001;refseq.mrnaCoord_3=957;refseq.name2_1=IL28RA;refseq.name2_2=IL28RA;refseq.name2_3=IL28RA;refseq.name_1=NM_170743;refseq.name_2=NM_173064;refseq.name_3=NM_173065;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.H359Y;refseq.proteinCoordStr_2=p.H330Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=274;refseq.spliceDist_2=187;refseq.spliceDist_3=274;refseq.start_1=24356695;refseq.start_2=24356695;refseq.start_3=24356695;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr1 24368672 . G A 266.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.34;MQ0=0;OQ=6249.85;QD=19.17;RankSumP=0.00431832;SB=-1669.27;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.189C>T;refseq.codingCoordStr_2=c.189C>T;refseq.codingCoordStr_3=c.189C>T;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.codonCoord_3=63;refseq.end_1=24368672;refseq.end_2=24368672;refseq.end_3=24368672;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=202;refseq.mrnaCoord_2=202;refseq.mrnaCoord_3=202;refseq.name2_1=IL28RA;refseq.name2_2=IL28RA;refseq.name2_3=IL28RA;refseq.name_1=NM_170743;refseq.name_2=NM_173064;refseq.name_3=NM_173065;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P63P;refseq.proteinCoordStr_2=p.P63P;refseq.proteinCoordStr_3=p.P63P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=24368672;refseq.start_2=24368672;refseq.start_3=24368672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=filterInsoap-gatk GT 1/0 chr1 24530650 . C G 347.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=10.81;MQ=98.82;MQ0=0;OQ=6175.19;QD=20.38;RankSumP=0.445177;SB=-2072.02;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.180C>G;refseq.codingCoordStr_3=c.165C>G;refseq.codonCoord_2=60;refseq.codonCoord_3=55;refseq.end_1=24533711;refseq.end_2=24530650;refseq.end_3=24530650;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=226;refseq.mrnaCoord_3=326;refseq.name2_1=GRHL3;refseq.name2_2=GRHL3;refseq.name2_3=GRHL3;refseq.name_1=NM_198174;refseq.name_2=NM_021180;refseq.name_3=NM_198173;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D60E;refseq.proteinCoordStr_3=p.D55E;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=24522205;refseq.start_2=24530650;refseq.start_3=24530650;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr1 24541254 . C G 194.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=98.89;MQ0=0;OQ=1966.44;QD=19.86;RankSumP=0.483972;SB=-217.22;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1125C>G;refseq.codingCoordStr_2=c.1110C>G;refseq.codingCoordStr_3=c.831C>G;refseq.codonCoord_1=375;refseq.codonCoord_2=370;refseq.codonCoord_3=277;refseq.end_1=24541254;refseq.end_2=24541254;refseq.end_3=24541254;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1171;refseq.mrnaCoord_2=1271;refseq.mrnaCoord_3=984;refseq.name2_1=GRHL3;refseq.name2_2=GRHL3;refseq.name2_3=GRHL3;refseq.name_1=NM_021180;refseq.name_2=NM_198173;refseq.name_3=NM_198174;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V375V;refseq.proteinCoordStr_2=p.V370V;refseq.proteinCoordStr_3=p.V277V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.start_1=24541254;refseq.start_2=24541254;refseq.start_3=24541254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr1 24553502 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=98.80;MQ0=0;OQ=5042.33;QD=15.05;RankSumP=0.0358706;SB=-1983.98;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1761C>T;refseq.codingCoordStr_2=c.1746C>T;refseq.codingCoordStr_3=c.1467C>T;refseq.codonCoord_1=587;refseq.codonCoord_2=582;refseq.codonCoord_3=489;refseq.end_1=24553502;refseq.end_2=24553502;refseq.end_3=24553502;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1807;refseq.mrnaCoord_2=1907;refseq.mrnaCoord_3=1620;refseq.name2_1=GRHL3;refseq.name2_2=GRHL3;refseq.name2_3=GRHL3;refseq.name_1=NM_021180;refseq.name_2=NM_198173;refseq.name_3=NM_198174;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V587V;refseq.proteinCoordStr_2=p.V582V;refseq.proteinCoordStr_3=p.V489V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=24553502;refseq.start_2=24553502;refseq.start_3=24553502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr1 24641203 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=177;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.93;MQ0=0;OQ=2952.88;QD=16.68;RankSumP=0.0388287;SB=-1383.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.234G>A;refseq.codonCoord=78;refseq.end=24641203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_020448;refseq.name2=NIPAL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L78L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=72;refseq.start=24641203;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr1 24868365 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1904T>G;refseq.codonCoord=635;refseq.end=24868365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2128;refseq.name=NM_005839;refseq.name2=SRRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V635G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=165;refseq.start=24868365;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 24870675 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.chr=chr1;refseq.codingCoordStr=c.2610+2;refseq.end=24870675;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005839;refseq.name2=SRRM1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=24870675;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 25101550 . T G 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.0165598;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.940A>C;refseq.codingCoordStr_2=c.898A>C;refseq.codonCoord_1=314;refseq.codonCoord_2=300;refseq.end_1=25101550;refseq.end_2=25101550;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1379;refseq.mrnaCoord_2=1309;refseq.name2_1=RUNX3;refseq.name2_2=RUNX3;refseq.name_1=NM_001031680;refseq.name_2=NM_004350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T314P;refseq.proteinCoordStr_2=p.T300P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=195;refseq.spliceDist_2=195;refseq.start_1=25101550;refseq.start_2=25101550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr1 25427306 . G A 222.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.93;MQ0=0;OQ=5310.10;QD=18.57;RankSumP=0.376019;SB=-1743.35;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.266C>T;refseq.codingCoordStr_2=c.140C>T;refseq.codonCoord_1=89;refseq.codonCoord_2=47;refseq.end_1=25427306;refseq.end_2=25427306;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=195;refseq.name2_1=SYF2;refseq.name2_2=SYF2;refseq.name_1=NM_015484;refseq.name_2=NM_207170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A89V;refseq.proteinCoordStr_2=p.A47V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=25427306;refseq.start_2=25427306;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr1 25483688 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.186G>T;refseq.codingCoordStr_2=c.186G>T;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=25483688;refseq.end_2=25483688;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=244;refseq.mrnaCoord_2=244;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L62F;refseq.proteinCoordStr_2=p.L62F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=25483688;refseq.start_2=25483688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr1 25489838 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.168092;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.455A>C;refseq.codingCoordStr_2=c.455A>C;refseq.codonCoord_1=152;refseq.codonCoord_2=152;refseq.end_1=25489838;refseq.end_2=25489838;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=513;refseq.mrnaCoord_2=513;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N152T;refseq.proteinCoordStr_2=p.N152T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=25489838;refseq.start_2=25489838;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 0/1 chr1 25502505 . C G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=5;HRun=3;RankSumP=0.214291;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.907C>G;refseq.codingCoordStr_2=c.907C>G;refseq.codonCoord_1=303;refseq.codonCoord_2=303;refseq.end_1=25502505;refseq.end_2=25502505;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=965;refseq.mrnaCoord_2=965;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L303V;refseq.proteinCoordStr_2=p.L303V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=25502505;refseq.start_2=25502505;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr1 25502530 . A C 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.103492;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.932A>C;refseq.codingCoordStr_2=c.932A>C;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=25502530;refseq.end_2=25502530;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=990;refseq.mrnaCoord_2=990;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y311S;refseq.proteinCoordStr_2=p.Y311S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=25502530;refseq.start_2=25502530;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 0/1 chr1 25520983 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.373829;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1170T>C;refseq.codonCoord_2=390;refseq.end_1=25527965;refseq.end_2=25520983;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1228;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L390L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=17;refseq.start_1=25502548;refseq.start_2=25520983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=soap GT 1/0 chr1 25521006 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.603353;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1193A>T;refseq.codonCoord_2=398;refseq.end_1=25527965;refseq.end_2=25521006;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1251;refseq.name2_1=RHD;refseq.name2_2=RHD;refseq.name_1=NM_001127691;refseq.name_2=NM_016124;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E398V;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=-35;refseq.start_1=25502548;refseq.start_2=25521006;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr1 25542054 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.109T>G;refseq.codonCoord=37;refseq.end=25542054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_014313;refseq.name2=TMEM50A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W37G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=16;refseq.start=25542054;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 25569579 . A T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.554424;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1193T>A;refseq.codingCoordStr_2=c.740T>A;refseq.codingCoordStr_3=c.798T>A;refseq.codingCoordStr_4=c.1059T>A;refseq.codonCoord_1=398;refseq.codonCoord_2=247;refseq.codonCoord_3=266;refseq.codonCoord_4=353;refseq.end_1=25569579;refseq.end_2=25569579;refseq.end_3=25569579;refseq.end_4=25569579;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1279;refseq.mrnaCoord_2=826;refseq.mrnaCoord_3=884;refseq.mrnaCoord_4=1145;refseq.name2_1=RHCE;refseq.name2_2=RHCE;refseq.name2_3=RHCE;refseq.name2_4=RHCE;refseq.name_1=NM_020485;refseq.name_2=NM_138616;refseq.name_3=NM_138617;refseq.name_4=NM_138618;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V398E;refseq.proteinCoordStr_2=p.V247E;refseq.proteinCoordStr_3=p.C266*;refseq.proteinCoordStr_4=p.C353*;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=25569579;refseq.start_2=25569579;refseq.start_3=25569579;refseq.start_4=25569579;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=TGA;refseq.variantCodon_4=TGA;set=soap GT 0/1 chr1 25569602 . G A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.402079;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1170C>T;refseq.codingCoordStr_2=c.717C>T;refseq.codingCoordStr_3=c.775C>T;refseq.codingCoordStr_4=c.1036C>T;refseq.codonCoord_1=390;refseq.codonCoord_2=239;refseq.codonCoord_3=259;refseq.codonCoord_4=346;refseq.end_1=25569602;refseq.end_2=25569602;refseq.end_3=25569602;refseq.end_4=25569602;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_2=803;refseq.mrnaCoord_3=861;refseq.mrnaCoord_4=1122;refseq.name2_1=RHCE;refseq.name2_2=RHCE;refseq.name2_3=RHCE;refseq.name2_4=RHCE;refseq.name_1=NM_020485;refseq.name_2=NM_138616;refseq.name_3=NM_138617;refseq.name_4=NM_138618;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L390L;refseq.proteinCoordStr_2=p.L239L;refseq.proteinCoordStr_3=p.Q259*;refseq.proteinCoordStr_4=p.Q346*;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.start_1=25569602;refseq.start_2=25569602;refseq.start_3=25569602;refseq.start_4=25569602;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;set=soap GT 1/0 chr1 25601705 . G T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.463282;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.455C>A;refseq.codingCoordStr_2=c.455C>A;refseq.codingCoordStr_3=c.455C>A;refseq.codingCoordStr_4=c.455C>A;refseq.codonCoord_1=152;refseq.codonCoord_2=152;refseq.codonCoord_3=152;refseq.codonCoord_4=152;refseq.end_1=25601705;refseq.end_2=25601705;refseq.end_3=25601705;refseq.end_4=25601705;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=541;refseq.mrnaCoord_2=541;refseq.mrnaCoord_3=541;refseq.mrnaCoord_4=541;refseq.name2_1=RHCE;refseq.name2_2=RHCE;refseq.name2_3=RHCE;refseq.name2_4=RHCE;refseq.name_1=NM_020485;refseq.name_2=NM_138616;refseq.name_3=NM_138617;refseq.name_4=NM_138618;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T152N;refseq.proteinCoordStr_2=p.T152N;refseq.proteinCoordStr_3=p.T152N;refseq.proteinCoordStr_4=p.T152N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.spliceDist_4=-32;refseq.start_1=25601705;refseq.start_2=25601705;refseq.start_3=25601705;refseq.start_4=25601705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=FilteredInAll GT 0/1 chr1 25619817 . G C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.48C>G;refseq.codingCoordStr_2=c.48C>G;refseq.codingCoordStr_3=c.48C>G;refseq.codingCoordStr_4=c.48C>G;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.codonCoord_4=16;refseq.end_1=25619817;refseq.end_2=25619817;refseq.end_3=25619817;refseq.end_4=25619817;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=134;refseq.mrnaCoord_2=134;refseq.mrnaCoord_3=134;refseq.mrnaCoord_4=134;refseq.name2_1=RHCE;refseq.name2_2=RHCE;refseq.name2_3=RHCE;refseq.name2_4=RHCE;refseq.name_1=NM_020485;refseq.name_2=NM_138616;refseq.name_3=NM_138617;refseq.name_4=NM_138618;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C16W;refseq.proteinCoordStr_2=p.C16W;refseq.proteinCoordStr_3=p.C16W;refseq.proteinCoordStr_4=p.C16W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.spliceDist_3=-101;refseq.spliceDist_4=-101;refseq.start_1=25619817;refseq.start_2=25619817;refseq.start_3=25619817;refseq.start_4=25619817;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=FilteredInAll GT 0/1 chr1 25630258 . T G 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.500001;SecondBestBaseQ=15;refseq.chr=chr1;refseq.codingCoordStr=c.80+2;refseq.end=25630258;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018202;refseq.name2=TMEM57;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=25630258;refseq.transcriptStrand=+;set=soap GT 1/0 chr1 26004241 . G A 145.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.60;MQ0=0;OQ=1455.06;QD=33.07;RankSumP=1.00000;SB=-152.20;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.425G>A;refseq.codingCoordStr_2=c.323G>A;refseq.codonCoord_1=142;refseq.codonCoord_2=108;refseq.end_1=26004241;refseq.end_2=26004241;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=378;refseq.name2_1=SEPN1;refseq.name2_2=SEPN1;refseq.name_1=NM_020451;refseq.name_2=NM_206926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C142Y;refseq.proteinCoordStr_2=p.C108Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=26004241;refseq.start_2=26004241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr1 26010849 . T C 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.31;MQ0=0;OQ=1105.66;QD=36.86;RankSumP=1.00000;SB=-488.58;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1173T>C;refseq.codingCoordStr_2=c.1071T>C;refseq.codonCoord_1=391;refseq.codonCoord_2=357;refseq.end_1=26010849;refseq.end_2=26010849;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1228;refseq.mrnaCoord_2=1126;refseq.name2_1=SEPN1;refseq.name2_2=SEPN1;refseq.name_1=NM_020451;refseq.name_2=NM_206926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P391P;refseq.proteinCoordStr_2=p.P357P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=26010849;refseq.start_2=26010849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr1 26013160 . C A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.70;MQ0=0;OQ=2386.80;QD=35.62;RankSumP=1.00000;SB=-866.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1506C>A;refseq.codingCoordStr_2=c.1404C>A;refseq.codonCoord_1=502;refseq.codonCoord_2=468;refseq.end_1=26013160;refseq.end_2=26013160;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1561;refseq.mrnaCoord_2=1459;refseq.name2_1=SEPN1;refseq.name2_2=SEPN1;refseq.name_1=NM_020451;refseq.name_2=NM_206926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N502K;refseq.proteinCoordStr_2=p.N468K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=26013160;refseq.start_2=26013160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr1 26230254 . G A 190.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.48;MQ0=0;OQ=3970.14;QD=20.46;RankSumP=0.297560;SB=-1330.37;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1146G>A;refseq.codonCoord=382;refseq.end=26230254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2013;refseq.name=NM_004455;refseq.name2=EXTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L382L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=45;refseq.start=26230254;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr1 26257590 . T C 209.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=98.92;MQ0=0;OQ=5942.46;QD=18.51;RankSumP=0.318730;SB=-928.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.709A>G;refseq.codonCoord=237;refseq.end=26257590;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=845;refseq.name=NM_032588;refseq.name2=TRIM63;refseq.positionType=CDS;refseq.proteinCoordStr=p.K237E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=112;refseq.start=26257590;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 26360527 . A G 108.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=343.77;QD=14.32;RankSumP=0.509994;SB=-37.93;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.158A>G;refseq.codonCoord=53;refseq.end=26360527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_024869;refseq.name2=GRRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H53R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=238;refseq.start=26360527;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr1 26369238 . T C 25.04 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=94.28;MQ0=0;QD=4.17;RankSumP=0.633333;SB=-7.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.177T>C;refseq.codonCoord=59;refseq.end=26369238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_015871;refseq.name2=ZNF593;refseq.positionType=CDS;refseq.proteinCoordStr=p.G59G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-24;refseq.start=26369238;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 26387899 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=3;RankSumP=0.00228049;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1740T>G;refseq.codonCoord_2=580;refseq.end_1=26387899;refseq.end_2=26387899;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1778;refseq.mrnaCoord_2=1798;refseq.name2_1=CNKSR1;refseq.name2_2=CNKSR1;refseq.name_1=NR_023345;refseq.name_2=NM_006314;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G580G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=26387899;refseq.start_2=26387899;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 26454678 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=1;HaplotypeScore=3.09;MQ=98.90;MQ0=0;OQ=10377.30;QD=21.26;RankSumP=0.494580;SB=-3725.27;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.638G>A;refseq.codonCoord=213;refseq.end=26454678;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_022778;refseq.name2=CCDC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S213N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-266;refseq.start=26454678;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 26481401 . A G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=91.70;MQ0=0;OQ=66.44;QD=8.30;RankSumP=0.100000;SB=-35.93;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1179T>C;refseq.codingCoordStr_2=c.1440T>C;refseq.codingCoordStr_3=c.1539T>C;refseq.codonCoord_1=393;refseq.codonCoord_2=480;refseq.codonCoord_3=513;refseq.end_1=26481401;refseq.end_2=26481401;refseq.end_3=26481401;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1327;refseq.mrnaCoord_2=1807;refseq.mrnaCoord_3=1812;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_001077262;refseq.name_2=NM_145345;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P393P;refseq.proteinCoordStr_2=p.P480P;refseq.proteinCoordStr_3=p.P513P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=26481401;refseq.start_2=26481401;refseq.start_3=26481401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 0/1 chr1 26481415 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=90.61;MQ0=0;OQ=74.88;QD=10.70;RankSumP=0.666667;SB=-37.64;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1165C>T;refseq.codingCoordStr_2=c.1426C>T;refseq.codingCoordStr_3=c.1525C>T;refseq.codonCoord_1=389;refseq.codonCoord_2=476;refseq.codonCoord_3=509;refseq.end_1=26481415;refseq.end_2=26481415;refseq.end_3=26481415;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1313;refseq.mrnaCoord_2=1793;refseq.mrnaCoord_3=1798;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_001077262;refseq.name_2=NM_145345;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P389S;refseq.proteinCoordStr_2=p.P476S;refseq.proteinCoordStr_3=p.P509S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=26481415;refseq.start_2=26481415;refseq.start_3=26481415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr1 26481439 . G A 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.83;MQ0=0;OQ=96.73;QD=8.79;RankSumP=0.542857;SB=2.03;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1141C>T;refseq.codingCoordStr_2=c.1402C>T;refseq.codingCoordStr_3=c.1501C>T;refseq.codonCoord_1=381;refseq.codonCoord_2=468;refseq.codonCoord_3=501;refseq.end_1=26481439;refseq.end_2=26481439;refseq.end_3=26481439;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1289;refseq.mrnaCoord_2=1769;refseq.mrnaCoord_3=1774;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_001077262;refseq.name_2=NM_145345;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P381S;refseq.proteinCoordStr_2=p.P468S;refseq.proteinCoordStr_3=p.P501S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.spliceDist_3=-80;refseq.start_1=26481439;refseq.start_2=26481439;refseq.start_3=26481439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr1 26481846 . C T 240.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=99.00;MQ0=0;OQ=2115.18;QD=14.59;RankSumP=0.0534604;SB=-863.36;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.813G>A;refseq.codingCoordStr_2=c.1074G>A;refseq.codingCoordStr_3=c.1173G>A;refseq.codonCoord_1=271;refseq.codonCoord_2=358;refseq.codonCoord_3=391;refseq.end_1=26481846;refseq.end_2=26481846;refseq.end_3=26481846;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=1441;refseq.mrnaCoord_3=1446;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_001077262;refseq.name_2=NM_145345;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T271T;refseq.proteinCoordStr_2=p.T358T;refseq.proteinCoordStr_3=p.T391T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=26481846;refseq.start_2=26481846;refseq.start_3=26481846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr1 26483478 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=98.63;MQ0=0;OQ=772.35;QD=10.44;RankSumP=0.316866;SB=-181.81;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.575T>G;refseq.codingCoordStr_2=c.836T>G;refseq.codingCoordStr_3=c.935T>G;refseq.codonCoord_1=192;refseq.codonCoord_2=279;refseq.codonCoord_3=312;refseq.end_1=26483478;refseq.end_2=26483478;refseq.end_3=26483478;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=1203;refseq.mrnaCoord_3=1208;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_001077262;refseq.name_2=NM_145345;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L192R;refseq.proteinCoordStr_2=p.L279R;refseq.proteinCoordStr_3=p.L312R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=26483478;refseq.start_2=26483478;refseq.start_3=26483478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr1 26500065 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=564;Dels=0.00;HRun=1;HaplotypeScore=25.17;MQ=98.44;MQ0=0;OQ=6600.47;QD=11.70;RankSumP=8.48466e-06;SB=-1001.24;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.138A>G;refseq.codingCoordStr_3=c.138A>G;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=26500761;refseq.end_2=26500065;refseq.end_3=26500065;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=286;refseq.mrnaCoord_3=411;refseq.name2_1=UBXN11;refseq.name2_2=UBXN11;refseq.name2_3=UBXN11;refseq.name_1=NM_145345;refseq.name_2=NM_001077262;refseq.name_3=NM_183008;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S46S;refseq.proteinCoordStr_3=p.S46S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.start_1=26497151;refseq.start_2=26500065;refseq.start_3=26500065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=filterInsoap-gatk GT 1/0 chr1 26519279 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.85A>C;refseq.codonCoord=29;refseq.end=26519279;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_001803;refseq.name2=CD52;refseq.positionType=CDS;refseq.proteinCoordStr=p.T29P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=31;refseq.start=26519279;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 26519313 . A G 304.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=97.74;MQ0=0;OQ=5205.92;QD=16.02;RankSumP=0.214690;SB=-1990.49;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.119A>G;refseq.codonCoord=40;refseq.end=26519313;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_001803;refseq.name2=CD52;refseq.positionType=CDS;refseq.proteinCoordStr=p.N40S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=65;refseq.start=26519313;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 26519317 . A G 193.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=17.72;MQ=97.86;MQ0=0;OQ=5278.83;QD=15.71;RankSumP=0.234952;SB=-1953.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.123A>G;refseq.codonCoord=41;refseq.end=26519317;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=221;refseq.name=NM_001803;refseq.name2=CD52;refseq.positionType=CDS;refseq.proteinCoordStr=p.I41M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=69;refseq.start=26519317;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 26659214 . G A 348.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=98.96;MQ0=0;OQ=6962.06;QD=17.76;RankSumP=0.0694949;SB=-1686.37;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.757G>A;refseq.codingCoordStr_2=c.757G>A;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.end_1=26659214;refseq.end_2=26659214;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=878;refseq.mrnaCoord_2=878;refseq.name2_1=DHDDS;refseq.name2_2=DHDDS;refseq.name_1=NM_024887;refseq.name_2=NM_205861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V253M;refseq.proteinCoordStr_2=p.V253M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=26659214;refseq.start_2=26659214;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr1 26752507 . T C 212.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=98.81;MQ0=0;OQ=5634.12;QD=36.82;RankSumP=1.00000;SB=-2218.31;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.534T>C;refseq.codingCoordStr_2=c.507T>C;refseq.codonCoord_1=178;refseq.codonCoord_2=169;refseq.end_1=26752507;refseq.end_2=26752507;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=583;refseq.mrnaCoord_2=670;refseq.name2_1=RPS6KA1;refseq.name2_2=RPS6KA1;refseq.name_1=NM_001006665;refseq.name_2=NM_002953;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A178A;refseq.proteinCoordStr_2=p.A169A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=26752507;refseq.start_2=26752507;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 26978698 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5722A>C;refseq.codingCoordStr_2=c.5071A>C;refseq.codonCoord_1=1908;refseq.codonCoord_2=1691;refseq.end_1=26978698;refseq.end_2=26978698;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6095;refseq.mrnaCoord_2=5444;refseq.name2_1=ARID1A;refseq.name2_2=ARID1A;refseq.name_1=NM_006015;refseq.name_2=NM_139135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1908P;refseq.proteinCoordStr_2=p.T1691P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=598;refseq.spliceDist_2=598;refseq.start_1=26978698;refseq.start_2=26978698;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr1 26979751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6775T>G;refseq.codingCoordStr_2=c.6124T>G;refseq.codonCoord_1=2259;refseq.codonCoord_2=2042;refseq.end_1=26979751;refseq.end_2=26979751;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7148;refseq.mrnaCoord_2=6497;refseq.name2_1=ARID1A;refseq.name2_2=ARID1A;refseq.name_1=NM_006015;refseq.name_2=NM_139135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2259V;refseq.proteinCoordStr_2=p.L2042V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-1438;refseq.spliceDist_2=-1438;refseq.start_1=26979751;refseq.start_2=26979751;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr1 27047710 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.156501;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.521G>T;refseq.codonCoord=174;refseq.end=27047710;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_032283;refseq.name2=ZDHHC18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R174L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=25;refseq.start=27047710;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr1 27051883 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=1.17772e-07;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.989A>C;refseq.codonCoord=330;refseq.end=27051883;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1084;refseq.name=NM_032283;refseq.name2=ZDHHC18;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y330S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=53;refseq.start=27051883;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr1 27083308 . T C 104.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=3.75;MQ=98.62;MQ0=0;OQ=4749.32;QD=31.45;RankSumP=1.00000;SB=-2299.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.790A>G;refseq.codonCoord=264;refseq.end=27083308;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1072;refseq.name=NM_018066;refseq.name2=GPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R264G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=61;refseq.start=27083308;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 27142028 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.626T>G;refseq.codonCoord=209;refseq.end=27142028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_006600;refseq.name2=NUDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=80;refseq.start=27142028;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 27151108 . G A 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=171.65;QD=8.17;RankSumP=0.185110;SB=-101.55;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=27151108;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_152365;refseq.name2=C1orf172;refseq.positionType=CDS;refseq.proteinCoordStr=p.D117D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=383;refseq.start=27151108;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 27151140 . G A 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.24;MQ0=0;OQ=127.04;QD=7.94;RankSumP=0.722090;SB=-74.30;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.319C>T;refseq.codonCoord=107;refseq.end=27151140;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_152365;refseq.name2=C1orf172;refseq.positionType=CDS;refseq.proteinCoordStr=p.R107W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=351;refseq.start=27151140;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 27211690 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.59C>A;refseq.codonCoord=20;refseq.end=27211690;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_052943;refseq.name2=FAM46B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-206;refseq.start=27211690;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/1 chr1 27299383 . T C 301.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.88;MQ0=0;OQ=3215.58;QD=33.85;RankSumP=1.00000;SB=-768.12;SecondBestBaseQ=2;refseq.chr=chr1;refseq.codingCoordStr=c.*2A>G;refseq.end=27299383;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=3076;refseq.name=NM_003047;refseq.name2=SLC9A1;refseq.positionType=utr3;refseq.spliceDist=340;refseq.start=27299383;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr1 27299628 . T C 354.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=3.64;MQ=98.68;MQ0=0;OQ=8368.22;QD=39.66;RankSumP=1.00000;SB=-2555.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2205A>G;refseq.codonCoord=735;refseq.end=27299628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2831;refseq.name=NM_003047;refseq.name2=SLC9A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E735E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=95;refseq.start=27299628;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 27353344 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=98.60;MQ0=0;OQ=920.01;QD=10.82;RankSumP=0.398429;SB=-269.27;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.69T>C;refseq.codonCoord=23;refseq.end=27353344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_003047;refseq.name2=SLC9A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-284;refseq.start=27353344;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr1 27552384 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=6.03;MQ=98.29;MQ0=0;OQ=478.12;QD=10.87;RankSumP=0.0365116;SB=-159.70;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1331A>G;refseq.codonCoord=444;refseq.end=27552384;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_032872;refseq.name2=SYTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q444R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=24;refseq.start=27552384;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr1 27552879 . A G 228.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=5.01;MQ=98.77;MQ0=0;OQ=1602.02;QD=15.11;RankSumP=0.417329;SB=-557.66;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1602A>G;refseq.codonCoord=534;refseq.end=27552879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_032872;refseq.name2=SYTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E534E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=89;refseq.start=27552879;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr1 27559879 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1958T>G;refseq.codonCoord=653;refseq.end=27559879;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2207;refseq.name=NM_004672;refseq.name2=MAP3K6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V653G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=27559879;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 27560053 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=4.80;MQ=97.25;MQ0=0;OQ=482.71;QD=8.94;RankSumP=0.567459;SB=-178.53;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1866C>A;refseq.codonCoord=622;refseq.end=27560053;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2115;refseq.name=NM_004672;refseq.name2=MAP3K6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N622K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=34;refseq.start=27560053;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr1 27581725 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.48;MQ0=0;OQ=808.50;QD=19.72;RankSumP=0.494417;SB=-176.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.108T>C;refseq.codonCoord=36;refseq.end=27581725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_207397;refseq.name2=CD164L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F36F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=20;refseq.start=27581725;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 27746690 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00102838;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4524A>C;refseq.codonCoord=1508;refseq.end=27746690;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5493;refseq.name=NM_001029882;refseq.name2=AHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1508P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-332;refseq.start=27746690;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 27748411 . C T 390.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.67;MQ0=0;OQ=2648.60;QD=36.28;RankSumP=1.00000;SB=-1009.37;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2803G>A;refseq.codonCoord=935;refseq.end=27748411;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3772;refseq.name=NM_001029882;refseq.name2=AHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A935T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-2053;refseq.start=27748411;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 27749069 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=97.54;MQ0=0;OQ=288.58;QD=12.02;RankSumP=0.308171;SB=-162.86;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2145G>T;refseq.codonCoord=715;refseq.end=27749069;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3114;refseq.name=NM_001029882;refseq.name2=AHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P715P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=2219;refseq.start=27749069;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 28040250 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.410T>G;refseq.codingCoordStr_3=c.-17T>G;refseq.codonCoord_2=137;refseq.end_1=28042273;refseq.end_2=28040250;refseq.end_3=28040250;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=464;refseq.mrnaCoord_3=819;refseq.name2_1=PPP1R8;refseq.name2_2=PPP1R8;refseq.name2_3=PPP1R8;refseq.name_1=NM_002713;refseq.name_2=NM_014110;refseq.name_3=NM_138558;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_2=p.V137G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-83;refseq.spliceDist_3=-83;refseq.start_1=28037961;refseq.start_2=28040250;refseq.start_3=28040250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 28040252 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.412A>G;refseq.codingCoordStr_3=c.-15A>G;refseq.codonCoord_2=138;refseq.end_1=28042273;refseq.end_2=28040252;refseq.end_3=28040252;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=466;refseq.mrnaCoord_3=821;refseq.name2_1=PPP1R8;refseq.name2_2=PPP1R8;refseq.name2_3=PPP1R8;refseq.name_1=NM_002713;refseq.name_2=NM_014110;refseq.name_3=NM_138558;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_2=p.K138E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=28037961;refseq.start_2=28040252;refseq.start_3=28040252;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr1 28081892 . A G 250.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=98.59;MQ0=0;OQ=3970.79;QD=36.10;RankSumP=1.00000;SB=-1184.84;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.1470A>G;refseq.codonCoord_3=490;refseq.end_1=28084382;refseq.end_2=28084382;refseq.end_3=28081892;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1498;refseq.name2_1=C1orf38;refseq.name2_2=C1orf38;refseq.name2_3=C1orf38;refseq.name_1=NM_001039477;refseq.name_2=NM_004848;refseq.name_3=NM_001105556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L490L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTA;refseq.spliceDist_3=-250;refseq.start_1=28075837;refseq.start_2=28079163;refseq.start_3=28081892;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr1 28081949 . T C 204.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.52;MQ0=0;OQ=2141.98;QD=33.47;RankSumP=1.00000;SB=-1057.70;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.1527T>C;refseq.codonCoord_3=509;refseq.end_1=28084382;refseq.end_2=28084382;refseq.end_3=28081949;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1555;refseq.name2_1=C1orf38;refseq.name2_2=C1orf38;refseq.name2_3=C1orf38;refseq.name_1=NM_001039477;refseq.name_2=NM_004848;refseq.name_3=NM_001105556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V509V;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTT;refseq.spliceDist_3=-193;refseq.start_1=28075837;refseq.start_2=28079163;refseq.start_3=28081949;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Val;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr1 28081953 . A G 301.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.48;MQ0=0;OQ=2268.55;QD=38.45;RankSumP=1.00000;SB=-1156.47;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.1531A>G;refseq.codonCoord_3=511;refseq.end_1=28084382;refseq.end_2=28084382;refseq.end_3=28081953;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1559;refseq.name2_1=C1orf38;refseq.name2_2=C1orf38;refseq.name2_3=C1orf38;refseq.name_1=NM_001039477;refseq.name_2=NM_004848;refseq.name_3=NM_001105556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K511E;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAG;refseq.spliceDist_3=-189;refseq.start_1=28075837;refseq.start_2=28079163;refseq.start_3=28081953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr1 28159252 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.666667;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.85A>G;refseq.codonCoord=29;refseq.end=28159252;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=162;refseq.name=NM_018053;refseq.name2=XKR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T29A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=162;refseq.start=28159252;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 28166299 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=11.36;MQ=98.62;MQ0=0;OQ=2757.54;QD=10.57;RankSumP=0.492355;SB=-641.44;SecondBestBaseQ=28;refseq.chr=chr1;refseq.codingCoordStr=c.*1G>A;refseq.end=28166299;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1266;refseq.name=NM_018053;refseq.name2=XKR8;refseq.positionType=utr3;refseq.spliceDist=699;refseq.start=28166299;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr1 28349915 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.205A>C;refseq.codingCoordStr_2=c.205A>C;refseq.codingCoordStr_3=c.205A>C;refseq.codingCoordStr_4=c.205A>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.codonCoord_3=69;refseq.codonCoord_4=69;refseq.end_1=28349915;refseq.end_2=28349915;refseq.end_3=28349915;refseq.end_4=28349915;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=596;refseq.mrnaCoord_2=540;refseq.mrnaCoord_3=448;refseq.mrnaCoord_4=396;refseq.name2_1=PTAFR;refseq.name2_2=PTAFR;refseq.name2_3=PTAFR;refseq.name2_4=PTAFR;refseq.name_1=NM_000952;refseq.name_2=NM_001164721;refseq.name_3=NM_001164722;refseq.name_4=NM_001164723;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T69P;refseq.proteinCoordStr_2=p.T69P;refseq.proteinCoordStr_3=p.T69P;refseq.proteinCoordStr_4=p.T69P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=243;refseq.spliceDist_2=243;refseq.spliceDist_3=243;refseq.spliceDist_4=243;refseq.start_1=28349915;refseq.start_2=28349915;refseq.start_3=28349915;refseq.start_4=28349915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr1 28400429 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.679C>A;refseq.codonCoord=227;refseq.end=28400429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_014280;refseq.name2=DNAJC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q227K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=40;refseq.start=28400429;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 28436866 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=2;HaplotypeScore=8.64;MQ=98.77;MQ0=0;OQ=2505.74;QD=15.96;RankSumP=0.241938;SB=-564.20;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.187A>G;refseq.codingCoordStr_3=c.*1312A>G;refseq.codonCoord_2=63;refseq.end_1=28436924;refseq.end_2=28436866;refseq.end_3=28436866;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=271;refseq.mrnaCoord_3=1579;refseq.name2_1=ATPIF1;refseq.name2_2=ATPIF1;refseq.name2_3=ATPIF1;refseq.name_1=NM_016311;refseq.name_2=NM_178190;refseq.name_3=NM_178191;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.R63G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=8;refseq.spliceDist_3=-333;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=28435561;refseq.start_2=28436866;refseq.start_3=28436866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr1 28471466 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=140;Dels=0.00;HRun=1;HaplotypeScore=29.01;MQ=98.07;MQ0=0;OQ=97.13;QD=0.69;RankSumP=0.00000;SB=278.98;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.439C>G;refseq.codonCoord=147;refseq.end=28471466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_031459;refseq.name2=SESN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L147V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=85;refseq.start=28471466;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr1 28471467 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.440T>G;refseq.codonCoord=147;refseq.end=28471467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_031459;refseq.name2=SESN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L147R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=86;refseq.start=28471467;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr1 28672967 . C A 159.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.60;MQ0=0;OQ=3031.42;QD=14.72;RankSumP=0.340716;SB=-1321.03;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1138C>A;refseq.codingCoordStr_2=c.1168C>A;refseq.codonCoord_1=380;refseq.codonCoord_2=390;refseq.end_1=28672967;refseq.end_2=28672967;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1420;refseq.mrnaCoord_2=1403;refseq.name2_1=PHACTR4;refseq.name2_2=PHACTR4;refseq.name_1=NM_001048183;refseq.name_2=NM_023923;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L380I;refseq.proteinCoordStr_2=p.L390I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-284;refseq.spliceDist_2=-284;refseq.start_1=28672967;refseq.start_2=28672967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr1 28734223 . G A 257.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.84;MQ0=0;OQ=2086.19;QD=14.80;RankSumP=0.303933;SB=-1060.01;SecondBestBaseQ=32;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_3=c.609G>A;refseq.codingCoordStr_4=c.567G>A;refseq.codingCoordStr_5=c.516G>A;refseq.codingCoordStr_6=c.516G>A;refseq.codonCoord_3=203;refseq.codonCoord_4=189;refseq.codonCoord_5=172;refseq.codonCoord_6=172;refseq.end_1=28734223;refseq.end_2=28734223;refseq.end_3=28734223;refseq.end_4=28734223;refseq.end_5=28734223;refseq.end_6=28734223;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=915;refseq.mrnaCoord_3=694;refseq.mrnaCoord_4=652;refseq.mrnaCoord_5=776;refseq.mrnaCoord_6=601;refseq.name2_1=SNHG3-RCC1;refseq.name2_2=SNHG3-RCC1;refseq.name2_3=RCC1;refseq.name2_4=RCC1;refseq.name2_5=SNHG3-RCC1;refseq.name2_6=RCC1;refseq.name_1=NR_030725;refseq.name_2=NR_030726;refseq.name_3=NM_001048194;refseq.name_4=NM_001048195;refseq.name_5=NM_001048199;refseq.name_6=NM_001269;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.V203V;refseq.proteinCoordStr_4=p.V189V;refseq.proteinCoordStr_5=p.V172V;refseq.proteinCoordStr_6=p.V172V;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.spliceDist_4=-23;refseq.spliceDist_5=-23;refseq.spliceDist_6=-23;refseq.start_1=28734223;refseq.start_2=28734223;refseq.start_3=28734223;refseq.start_4=28734223;refseq.start_5=28734223;refseq.start_6=28734223;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;refseq.variantCodon_6=GTA;set=Intersection GT 1/0 chr1 28889233 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.424137;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.189G>A;refseq.codingCoordStr_2=c.159G>A;refseq.codonCoord_1=63;refseq.codonCoord_2=53;refseq.end_1=28889233;refseq.end_2=28889233;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=327;refseq.mrnaCoord_2=294;refseq.name2_1=GMEB1;refseq.name2_2=GMEB1;refseq.name_1=NM_006582;refseq.name_2=NM_024482;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T63T;refseq.proteinCoordStr_2=p.T53T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-53;refseq.spliceDist_2=31;refseq.start_1=28889233;refseq.start_2=28889233;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 1/0 chr1 29011562 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=222.56;QD=13.91;RankSumP=0.522455;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.80G>T;refseq.codonCoord=27;refseq.end=29011562;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_000911;refseq.name2=OPRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C27F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-148;refseq.start=29011562;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 29062184 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=98.31;MQ0=0;OQ=703.51;QD=12.56;RankSumP=0.00465618;SB=-376.92;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.921C>T;refseq.codonCoord=307;refseq.end=29062184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_000911;refseq.name2=OPRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G307G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=344;refseq.start=29062184;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr1 29252249 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1683A>C;refseq.codingCoordStr_2=c.1683A>C;refseq.codingCoordStr_3=c.1056A>C;refseq.codingCoordStr_4=c.1056A>C;refseq.codingCoordStr_5=c.1056A>C;refseq.codingCoordStr_6=c.1578A>C;refseq.codonCoord_1=561;refseq.codonCoord_2=561;refseq.codonCoord_3=352;refseq.codonCoord_4=352;refseq.codonCoord_5=352;refseq.codonCoord_6=526;refseq.end_1=29252249;refseq.end_2=29252249;refseq.end_3=29252249;refseq.end_4=29252249;refseq.end_5=29252249;refseq.end_6=29252249;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1810;refseq.mrnaCoord_2=1883;refseq.mrnaCoord_3=1793;refseq.mrnaCoord_4=1873;refseq.mrnaCoord_5=1890;refseq.mrnaCoord_6=1705;refseq.name2_1=EPB41;refseq.name2_2=EPB41;refseq.name2_3=EPB41;refseq.name2_4=EPB41;refseq.name2_5=EPB41;refseq.name2_6=EPB41;refseq.name_1=NM_001166005;refseq.name_2=NM_001166006;refseq.name_3=NM_001166007;refseq.name_4=NM_004437;refseq.name_5=NM_203342;refseq.name_6=NM_203343;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A561A;refseq.proteinCoordStr_2=p.A561A;refseq.proteinCoordStr_3=p.A352A;refseq.proteinCoordStr_4=p.A352A;refseq.proteinCoordStr_5=p.A352A;refseq.proteinCoordStr_6=p.A526A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.spliceDist_4=47;refseq.spliceDist_5=47;refseq.spliceDist_6=47;refseq.start_1=29252249;refseq.start_2=29252249;refseq.start_3=29252249;refseq.start_4=29252249;refseq.start_5=29252249;refseq.start_6=29252249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;set=FilteredInAll GT 0/1 chr1 29347928 rs2230678 C T 27.32 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.90;SB=-37.53;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1066G>A;refseq.codonCoord=356;refseq.end=29347928;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1439;refseq.name=NM_005626;refseq.name2=SFRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G356S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=398;refseq.start=29347928;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:5,2:7:-8.12,-2.11,-21.13:60.15 chr1 29347981 . C G 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.23;MQ0=0;OQ=64.81;QD=4.63;RankSumP=0.393939;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1013G>C;refseq.codonCoord=338;refseq.end=29347981;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_005626;refseq.name2=SFRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G338A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=345;refseq.start=29347981;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr1 29348235 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=51.83;MQ=98.28;MQ0=0;OQ=7180.88;QD=17.18;RankSumP=0.151116;SB=-25.97;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.759A>C;refseq.codonCoord=253;refseq.end=29348235;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_005626;refseq.name2=SFRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E253D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=91;refseq.start=29348235;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 29402286 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.71;MQ0=0;OQ=751.44;QD=9.51;RankSumP=0.174719;SB=-377.09;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.369A>G;refseq.codingCoordStr_2=c.597A>G;refseq.codonCoord_1=123;refseq.codonCoord_2=199;refseq.end_1=29402286;refseq.end_2=29402286;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=760;refseq.mrnaCoord_2=633;refseq.name2_1=MECR;refseq.name2_2=MECR;refseq.name_1=NM_001024732;refseq.name_2=NM_016011;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A123A;refseq.proteinCoordStr_2=p.A199A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=29402286;refseq.start_2=29402286;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 29415224 . A G 165.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.36;MQ0=0;OQ=2391.70;QD=14.15;RankSumP=0.467154;SB=-890.50;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.58T>C;refseq.codingCoordStr_2=c.286T>C;refseq.codonCoord_1=20;refseq.codonCoord_2=96;refseq.end_1=29415224;refseq.end_2=29415224;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=322;refseq.name2_1=MECR;refseq.name2_2=MECR;refseq.name_1=NM_001024732;refseq.name_2=NM_016011;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F20L;refseq.proteinCoordStr_2=p.F96L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=29415224;refseq.start_2=29415224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr1 29474688 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1286G>C;refseq.codingCoordStr_2=c.1286G>C;refseq.codingCoordStr_3=c.1286G>C;refseq.codonCoord_1=429;refseq.codonCoord_2=429;refseq.codonCoord_3=429;refseq.end_1=29474688;refseq.end_2=29474688;refseq.end_3=29474688;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1396;refseq.mrnaCoord_3=1396;refseq.name2_1=PTPRU;refseq.name2_2=PTPRU;refseq.name2_3=PTPRU;refseq.name_1=NM_005704;refseq.name_2=NM_133177;refseq.name_3=NM_133178;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S429T;refseq.proteinCoordStr_2=p.S429T;refseq.proteinCoordStr_3=p.S429T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=142;refseq.spliceDist_2=142;refseq.spliceDist_3=142;refseq.start_1=29474688;refseq.start_2=29474688;refseq.start_3=29474688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr1 29510603 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2936A>G;refseq.codingCoordStr_2=c.2924A>G;refseq.codingCoordStr_3=c.2906A>G;refseq.codonCoord_1=979;refseq.codonCoord_2=975;refseq.codonCoord_3=969;refseq.end_1=29510603;refseq.end_2=29510603;refseq.end_3=29510603;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3046;refseq.mrnaCoord_2=3034;refseq.mrnaCoord_3=3016;refseq.name2_1=PTPRU;refseq.name2_2=PTPRU;refseq.name2_3=PTPRU;refseq.name_1=NM_005704;refseq.name_2=NM_133177;refseq.name_3=NM_133178;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E979G;refseq.proteinCoordStr_2=p.E975G;refseq.proteinCoordStr_3=p.E969G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=29510603;refseq.start_2=29510603;refseq.start_3=29510603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr1 29511659 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3111C>A;refseq.codingCoordStr_2=c.3099C>A;refseq.codingCoordStr_3=c.3081C>A;refseq.codonCoord_1=1037;refseq.codonCoord_2=1033;refseq.codonCoord_3=1027;refseq.end_1=29511659;refseq.end_2=29511659;refseq.end_3=29511659;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3221;refseq.mrnaCoord_2=3209;refseq.mrnaCoord_3=3191;refseq.name2_1=PTPRU;refseq.name2_2=PTPRU;refseq.name2_3=PTPRU;refseq.name_1=NM_005704;refseq.name_2=NM_133177;refseq.name_3=NM_133178;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y1037*;refseq.proteinCoordStr_2=p.Y1033*;refseq.proteinCoordStr_3=p.Y1027*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=29511659;refseq.start_2=29511659;refseq.start_3=29511659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr1 30961488 . A G 151.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=5.37;MQ=98.84;MQ0=0;OQ=2975.00;QD=13.11;RankSumP=0.159069;SB=-1456.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1062T>C;refseq.codonCoord=354;refseq.end=30961488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1096;refseq.name=NM_002379;refseq.name2=MATN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T354T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-146;refseq.start=30961488;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 30987951 . T C 209.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=4.57;MQ=98.85;MQ0=0;OQ=2927.33;QD=14.49;RankSumP=0.366060;SB=-1263.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.120A>G;refseq.codonCoord=40;refseq.end=30987951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_006762;refseq.name2=LAPTM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S40S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=33;refseq.start=30987951;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr1 31119986 . C T 266.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=5.07;MQ=98.92;MQ0=0;OQ=2944.90;QD=16.73;RankSumP=0.0315152;SB=-1433.24;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.907G>A;refseq.codonCoord=303;refseq.end=31119986;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_014654;refseq.name2=SDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D303N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=37;refseq.start=31119986;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 31122234 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=94.00;MQ0=0;OQ=91.37;QD=6.09;RankSumP=0.425641;SB=-41.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.622G>A;refseq.codonCoord=208;refseq.end=31122234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_014654;refseq.name2=SDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V208I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-249;refseq.start=31122234;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr1 31124100 . G A 269.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=98.76;MQ0=0;OQ=2176.43;QD=18.93;RankSumP=0.300161;SB=-704.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.213C>T;refseq.codonCoord=71;refseq.end=31124100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_014654;refseq.name2=SDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P71P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-44;refseq.start=31124100;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 31199335 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.94783e-08;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2404T>C;refseq.codingCoordStr_2=c.2404T>C;refseq.codonCoord_1=802;refseq.codonCoord_2=802;refseq.end_1=31199335;refseq.end_2=31199335;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2517;refseq.mrnaCoord_2=2517;refseq.name2_1=PUM1;refseq.name2_2=PUM1;refseq.name_1=NM_001020658;refseq.name_2=NM_014676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S802P;refseq.proteinCoordStr_2=p.S802P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=31199335;refseq.start_2=31199335;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 31199402 . A G 446.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.39;MQ0=0;OQ=3962.68;QD=37.38;RankSumP=1.00000;SB=-1848.90;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2337T>C;refseq.codingCoordStr_2=c.2337T>C;refseq.codonCoord_1=779;refseq.codonCoord_2=779;refseq.end_1=31199402;refseq.end_2=31199402;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2450;refseq.mrnaCoord_2=2450;refseq.name2_1=PUM1;refseq.name2_2=PUM1;refseq.name_1=NM_001020658;refseq.name_2=NM_014676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N779N;refseq.proteinCoordStr_2=p.N779N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=31199402;refseq.start_2=31199402;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr1 31304863 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.138G>C;refseq.codingCoordStr_2=c.138G>C;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=31304863;refseq.end_2=31304863;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=251;refseq.mrnaCoord_2=251;refseq.name2_1=PUM1;refseq.name2_2=PUM1;refseq.name_1=NM_001020658;refseq.name_2=NM_014676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A46A;refseq.proteinCoordStr_2=p.A46A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=31304863;refseq.start_2=31304863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr1 31669195 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=96.75;MQ0=0;OQ=116.97;QD=4.18;RankSumP=0.217497;SB=-79.29;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.108C>T;refseq.codonCoord=36;refseq.end=31669195;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_178865;refseq.name2=SERINC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T36T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=69;refseq.start=31669195;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr1 31670821 . T C 140.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=2;HaplotypeScore=5.75;MQ=98.13;MQ0=0;OQ=5644.95;QD=17.42;RankSumP=0.0631501;SB=-2148.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.450T>C;refseq.codonCoord=150;refseq.end=31670821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=600;refseq.name=NM_178865;refseq.name2=SERINC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I150I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-23;refseq.start=31670821;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr1 31678492 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=3.77679e-05;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1105G>C;refseq.codonCoord=369;refseq.end=31678492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_178865;refseq.name2=SERINC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V369L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=92;refseq.start=31678492;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr1 31678493 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=6.41427e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1106T>A;refseq.codonCoord=369;refseq.end=31678493;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_178865;refseq.name2=SERINC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V369E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=93;refseq.start=31678493;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr1 31857491 . C T 304.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.76;MQ0=0;OQ=2465.93;QD=38.53;RankSumP=1.00000;SB=-1178.06;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.111C>T;refseq.codonCoord=37;refseq.end=31857491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_001525;refseq.name2=HCRTR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R37R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-89;refseq.start=31857491;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr1 31865112 . A G 372.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=97.56;MQ0=0;OQ=4474.11;QD=34.42;RankSumP=1.00000;SB=-1712.96;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1222A>G;refseq.codonCoord=408;refseq.end=31865112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1607;refseq.name=NM_001525;refseq.name2=HCRTR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I408V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=135;refseq.start=31865112;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 31868852 . A G 213.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=6.58;MQ=97.28;MQ0=0;OQ=7957.98;QD=40.60;RankSumP=1.00000;SB=-3773.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.804T>C;refseq.codonCoord=268;refseq.end=31868852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_012392;refseq.name2=PEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I268I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=179;refseq.start=31868852;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 31895236 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4041T>G;refseq.codonCoord=1347;refseq.end=31895236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4406;refseq.name=NM_001856;refseq.name2=COL16A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1347G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-16;refseq.start=31895236;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 31921158 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=113;Dels=0.00;HRun=2;HaplotypeScore=11.57;MQ=98.79;MQ0=0;OQ=3939.49;QD=34.86;RankSumP=1.00000;SB=-1701.90;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2502T>C;refseq.codonCoord=834;refseq.end=31921158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2867;refseq.name=NM_001856;refseq.name2=COL16A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P834P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=33;refseq.start=31921158;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 31930961 . T C 379.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.83;MQ0=0;OQ=3660.69;QD=36.98;RankSumP=1.00000;SB=-1754.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1107A>G;refseq.codonCoord=369;refseq.end=31930961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_001856;refseq.name2=COL16A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P369P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=31930961;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 31936793 . T G 345.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.68;MQ0=0;OQ=6175.99;QD=37.20;RankSumP=1.00000;SB=-2021.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.268A>C;refseq.codonCoord=90;refseq.end=31936793;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_001856;refseq.name2=COL16A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R90R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=31936793;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 31938082 . G T 160.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=10.68;MQ=98.54;MQ0=0;OQ=10924.83;QD=39.02;RankSumP=1.00000;SB=-4111.23;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.185C>A;refseq.codonCoord=62;refseq.end=31938082;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_001856;refseq.name2=COL16A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T62K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=37;refseq.start=31938082;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 31966234 . T C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=97.65;MQ0=0;OQ=254.90;QD=23.17;RankSumP=1.00000;SB=-47.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4551A>G;refseq.codonCoord=1517;refseq.end=31966234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4905;refseq.name=NM_001703;refseq.name2=BAI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1517A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=31966234;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/1 chr1 31969234 . C G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=2.12;MQ=96.41;MQ0=0;OQ=112.41;QD=10.22;RankSumP=0.154762;SB=-46.91;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4134G>C;refseq.codonCoord=1378;refseq.end=31969234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4488;refseq.name=NM_001703;refseq.name2=BAI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1378P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-247;refseq.start=31969234;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 31994500 . G A 151.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.81;MQ0=0;OQ=1769.57;QD=14.87;RankSumP=0.0622783;SB=-783.34;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=31994500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_001703;refseq.name2=BAI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P175P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-314;refseq.start=31994500;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 32053197 . T C 220.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=99.00;MQ0=0;OQ=1209.60;QD=15.12;RankSumP=0.335388;SB=-566.61;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.325A>G;refseq.codonCoord=109;refseq.end=32053197;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_144569;refseq.name2=SPOCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=364;refseq.start=32053197;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr1 32330073 . A G 99.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=1362.19;QD=12.61;RankSumP=0.0424058;SB=-491.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.801A>G;refseq.codonCoord=267;refseq.end=32330073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_018056;refseq.name2=TMEM39B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S267S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-127;refseq.start=32330073;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 32401468 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.957T>G;refseq.codonCoord=319;refseq.end=32401468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_012316;refseq.name2=KPNA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-34;refseq.start=32401468;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 32440214 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=2;RankSumP=0.0292071;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.91A>C;refseq.codonCoord=31;refseq.end=32440214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_024296;refseq.name2=CCDC28B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-74;refseq.start=32440214;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 32445495 . T G 171.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=98.62;MQ0=0;OQ=1563.50;QD=13.71;RankSumP=0.177193;SB=-495.70;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.866T>G;refseq.codingCoordStr_2=c.626T>G;refseq.codonCoord_1=289;refseq.codonCoord_2=209;refseq.end_1=32445495;refseq.end_2=32445495;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=913;refseq.mrnaCoord_2=673;refseq.name2_1=IQCC;refseq.name2_2=IQCC;refseq.name_1=NM_001160042;refseq.name_2=NM_018134;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F289C;refseq.proteinCoordStr_2=p.F209C;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=32445495;refseq.start_2=32445495;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr1 32485786 . A G 145.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=97.37;MQ0=0;OQ=1314.14;QD=15.28;RankSumP=0.0236647;SB=-580.26;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=32485786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_032648;refseq.name2=FAM167B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q59Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-85;refseq.start=32485786;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 32514912 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.902T>G;refseq.codingCoordStr_2=c.902T>G;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.end_1=32514912;refseq.end_2=32514912;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1040;refseq.name2_1=LCK;refseq.name2_2=LCK;refseq.name_1=NM_001042771;refseq.name_2=NM_005356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V301G;refseq.proteinCoordStr_2=p.V301G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=32514912;refseq.start_2=32514912;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr1 32831263 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=3.08894e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.144C>A;refseq.codonCoord=48;refseq.end=32831263;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_001040441;refseq.name2=ZBTB8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y48*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=145;refseq.start=32831263;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr1 32838534 . G C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=9.68;MQ=98.73;MQ0=0;OQ=17596.99;QD=49.15;RankSumP=1.00000;SB=-7760.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1253G>C;refseq.codonCoord=418;refseq.end=32838534;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_001040441;refseq.name2=ZBTB8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G418A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=260;refseq.start=32838534;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 32906555 . T C 221.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=90.58;MQ0=2;OQ=15942.19;QD=41.84;RankSumP=1.00000;SB=-7755.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.450T>C;refseq.codingCoordStr_2=c.348T>C;refseq.codingCoordStr_3=c.453T>C;refseq.codonCoord_1=150;refseq.codonCoord_2=116;refseq.codonCoord_3=151;refseq.end_1=32906555;refseq.end_2=32906555;refseq.end_3=32906555;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=609;refseq.mrnaCoord_2=512;refseq.mrnaCoord_3=612;refseq.name2_1=RBBP4;refseq.name2_2=RBBP4;refseq.name2_3=RBBP4;refseq.name_1=NM_001135255;refseq.name_2=NM_001135256;refseq.name_3=NM_005610;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V150V;refseq.proteinCoordStr_2=p.V116V;refseq.proteinCoordStr_3=p.V151V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=32906555;refseq.start_2=32906555;refseq.start_3=32906555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr1 33008213 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=97.15;MQ0=0;OQ=397.75;QD=10.75;RankSumP=0.632290;SB=-200.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.846G>A;refseq.codonCoord=282;refseq.end=33008213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_020888;refseq.name2=KIAA1522;refseq.positionType=CDS;refseq.proteinCoordStr=p.A282A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=146;refseq.start=33008213;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 33008238 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=97.60;MQ0=0;OQ=541.53;QD=11.77;RankSumP=0.678288;SB=-152.68;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.871A>G;refseq.codonCoord=291;refseq.end=33008238;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_020888;refseq.name2=KIAA1522;refseq.positionType=CDS;refseq.proteinCoordStr=p.M291V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=171;refseq.start=33008238;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 33018389 . C G 309.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=13.89;MQ=98.68;MQ0=0;OQ=7925.82;QD=19.81;RankSumP=0.257374;SB=-1882.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1218G>C;refseq.codonCoord=406;refseq.end=33018389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2006;refseq.name=NM_003680;refseq.name2=YARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L406L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=78;refseq.start=33018389;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 33175102 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=25.29;MQ=98.61;MQ0=0;OQ=6277.56;QD=16.35;RankSumP=0.499318;SB=-1422.78;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*374G>A;refseq.codingCoordStr_2=c.2091G>A;refseq.codonCoord_2=697;refseq.end_1=33175102;refseq.end_2=33175102;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2138;refseq.mrnaCoord_2=2091;refseq.name2_1=RNF19B;refseq.name2_2=RNF19B;refseq.name_1=NM_001127361;refseq.name_2=NM_153341;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S697S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=396;refseq.spliceDist_2=346;refseq.start_1=33175102;refseq.start_2=33175102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr1 33175129 . G C 160.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=98.80;MQ0=0;OQ=3948.23;QD=15.24;RankSumP=0.338640;SB=-1620.69;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*347C>G;refseq.codingCoordStr_2=c.2064C>G;refseq.codonCoord_2=688;refseq.end_1=33175129;refseq.end_2=33175129;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2111;refseq.mrnaCoord_2=2064;refseq.name2_1=RNF19B;refseq.name2_2=RNF19B;refseq.name_1=NM_001127361;refseq.name_2=NM_153341;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P688P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=369;refseq.spliceDist_2=319;refseq.start_1=33175129;refseq.start_2=33175129;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr1 33182280 . G A 190.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.56;MQ0=0;OQ=2912.43;QD=18.43;RankSumP=9.85636e-05;SB=-721.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1329C>T;refseq.codingCoordStr_2=c.1332C>T;refseq.codonCoord_1=443;refseq.codonCoord_2=444;refseq.end_1=33182280;refseq.end_2=33182280;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1329;refseq.mrnaCoord_2=1332;refseq.name2_1=RNF19B;refseq.name2_2=RNF19B;refseq.name_1=NM_001127361;refseq.name_2=NM_153341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G443G;refseq.proteinCoordStr_2=p.G444G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=33182280;refseq.start_2=33182280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 1/0 chr1 33251546 . C G 33.76 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=80.81;MQ0=0;QD=0.31;SB=-28.60;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.543G>C;refseq.codingCoordStr_2=c.543G>C;refseq.codonCoord_1=181;refseq.codonCoord_2=181;refseq.end_1=33251546;refseq.end_2=33251546;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=606;refseq.name2_1=AK2;refseq.name2_2=AK2;refseq.name_1=NM_001625;refseq.name_2=NM_013411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K181N;refseq.proteinCoordStr_2=p.K181N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=33251546;refseq.start_2=33251546;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:101,9:104:-37.98,-31.32,-476.63:66.60 chr1 33274963 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=85.60;MQ0=0;OQ=95.16;QD=3.07;SB=-22.49;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.54C>T;refseq.codingCoordStr_2=c.54C>T;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=33274963;refseq.end_2=33274963;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=96;refseq.mrnaCoord_2=117;refseq.name2_1=AK2;refseq.name2_2=AK2;refseq.name_1=NM_001625;refseq.name_2=NM_013411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A18A;refseq.proteinCoordStr_2=p.A18A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=33274963;refseq.start_2=33274963;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:23,7:24:-20.03,-7.23,-68.76:99 chr1 33356208 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1148T>G;refseq.codonCoord=383;refseq.end=33356208;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1735;refseq.name=NM_052998;refseq.name2=ADC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V383G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-97;refseq.start=33356208;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 33419537 . A G 120.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.29;MQ0=0;OQ=486.34;QD=21.15;RankSumP=1.00000;SB=-219.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.84T>C;refseq.codonCoord=28;refseq.end=33419537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_018207;refseq.name2=TRIM62;refseq.positionType=CDS;refseq.proteinCoordStr=p.H28H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-325;refseq.start=33419537;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 33567271 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.604T>C;refseq.codingCoordStr_2=c.2209T>C;refseq.codonCoord_1=202;refseq.codonCoord_2=737;refseq.end_1=33567271;refseq.end_2=33567271;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=956;refseq.mrnaCoord_2=2263;refseq.name2_1=PHC2;refseq.name2_2=PHC2;refseq.name_1=NM_004427;refseq.name_2=NM_198040;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S202P;refseq.proteinCoordStr_2=p.S737P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=33567271;refseq.start_2=33567271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 33592620 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=8.80;MQ=98.14;MQ0=0;OQ=9251.44;QD=20.98;RankSumP=0.126029;SB=-3671.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1524G>A;refseq.codonCoord=508;refseq.end=33592620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_198040;refseq.name2=PHC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T508T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-32;refseq.start=33592620;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 33593208 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=3.51257e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1210G>C;refseq.codonCoord=404;refseq.end=33593208;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_198040;refseq.name2=PHC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A404P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-180;refseq.start=33593208;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 33605452 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=156;Dels=0.00;HRun=4;HaplotypeScore=2.56;MQ=98.92;MQ0=0;OQ=5524.12;QD=35.41;RankSumP=1.00000;SB=-1949.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.828T>C;refseq.codonCoord=276;refseq.end=33605452;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_198040;refseq.name2=PHC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P276P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-149;refseq.start=33605452;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 33729739 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=142;Dels=0.00;HRun=3;HaplotypeScore=2.67;MQ=98.18;MQ0=0;OQ=4931.20;QD=34.73;RankSumP=1.00000;SB=-1245.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1294T>G;refseq.codonCoord=432;refseq.end=33729739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_145238;refseq.name2=ZSCAN20;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y432D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-151;refseq.start=33729739;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 33732649 . A G 306.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=3643.80;QD=38.76;RankSumP=1.00000;SB=-1732.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2118A>G;refseq.codonCoord=706;refseq.end=33732649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2285;refseq.name=NM_145238;refseq.name2=ZSCAN20;refseq.positionType=CDS;refseq.proteinCoordStr=p.A706A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=245;refseq.start=33732649;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 34057929 . G A 261.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=4.01;MQ=97.83;MQ0=0;OQ=3022.02;QD=39.76;RankSumP=1.00000;SB=-740.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1176C>T;refseq.codonCoord=392;refseq.end=34057929;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1205;refseq.name=NM_052896;refseq.name2=CSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A392A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-29;refseq.start=34057929;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 34057968 . C T 86.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=7.92;MQ=98.49;MQ0=0;OQ=5598.53;QD=39.71;RankSumP=1.00000;SB=-1964.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1137G>A;refseq.codonCoord=379;refseq.end=34057968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_052896;refseq.name2=CSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K379K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=58;refseq.start=34057968;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 34102484 . T C 351.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2289.25;QD=37.53;RankSumP=1.00000;SB=-563.38;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.105T>C;refseq.codonCoord_3=35;refseq.end_1=34156271;refseq.end_2=34102484;refseq.end_3=34102484;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=133;refseq.mrnaCoord_3=1848;refseq.name2_1=CSMD2;refseq.name2_2=HMGB4;refseq.name2_3=HMGB4;refseq.name_1=NM_052896;refseq.name_2=NR_033264;refseq.name_3=NM_145205;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Y35Y;refseq.referenceAA_3=Tyr;refseq.referenceCodon_3=TAT;refseq.spliceDist_2=34;refseq.spliceDist_3=-495;refseq.start_1=34085195;refseq.start_2=34102484;refseq.start_3=34102484;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Tyr;refseq.variantCodon_3=TAC;set=Intersection GT 1/1 chr1 34102654 . A C 394.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.74;MQ0=0;OQ=8655.36;QD=39.70;RankSumP=1.00000;SB=-3768.54;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.275A>C;refseq.codonCoord_3=92;refseq.end_1=34156271;refseq.end_2=34102654;refseq.end_3=34102654;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=303;refseq.mrnaCoord_3=2018;refseq.name2_1=CSMD2;refseq.name2_2=HMGB4;refseq.name2_3=HMGB4;refseq.name_1=NM_052896;refseq.name_2=NR_033264;refseq.name_3=NM_145205;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E92A;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAA;refseq.spliceDist_2=204;refseq.spliceDist_3=-325;refseq.start_1=34085195;refseq.start_2=34102654;refseq.start_3=34102654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr1 34174008 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=1.27729e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.532A>C;refseq.codonCoord=178;refseq.end=34174008;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_052896;refseq.name2=CSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T178P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-61;refseq.start=34174008;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 34440371 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1370A>C;refseq.codingCoordStr_2=c.800A>C;refseq.codonCoord_1=457;refseq.codonCoord_2=267;refseq.end_1=34440371;refseq.end_2=34440371;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2208;refseq.mrnaCoord_2=1199;refseq.name2_1=C1orf94;refseq.name2_2=C1orf94;refseq.name_1=NM_001134734;refseq.name_2=NM_032884;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N457T;refseq.proteinCoordStr_2=p.N267T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=34440371;refseq.start_2=34440371;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr1 35023662 . A C 39 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.31596e-09;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.712A>C;refseq.codingCoordStr_2=c.712A>C;refseq.codonCoord_1=238;refseq.codonCoord_2=238;refseq.end_1=35023662;refseq.end_2=35023662;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=870;refseq.mrnaCoord_2=1327;refseq.name2_1=GJB3;refseq.name2_2=GJB3;refseq.name_1=NM_001005752;refseq.name_2=NM_024009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T238P;refseq.proteinCoordStr_2=p.T238P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=737;refseq.spliceDist_2=737;refseq.start_1=35023662;refseq.start_2=35023662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 35032548 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=631;Dels=0.00;HRun=0;HaplotypeScore=12.59;MQ=98.76;MQ0=0;OQ=24391.31;QD=38.66;RankSumP=1.00000;SB=-11506.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.147A>G;refseq.codonCoord=49;refseq.end=35032548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_002060;refseq.name2=GJA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q49Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=164;refseq.start=35032548;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 35032789 . G A 118.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.30;MQ0=0;OQ=575.99;QD=18.58;RankSumP=0.108541;SB=-238.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.388G>A;refseq.codonCoord=130;refseq.end=35032789;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_002060;refseq.name2=GJA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V130I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=405;refseq.start=35032789;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 35093549 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.*338A>G;refseq.codingCoordStr_2=c.*338A>G;refseq.codingCoordStr_3=c.*338A>G;refseq.end_1=35093549;refseq.end_2=35093549;refseq.end_3=35093549;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=905;refseq.mrnaCoord_3=762;refseq.name2_1=C1orf212;refseq.name2_2=C1orf212;refseq.name2_3=C1orf212;refseq.name_1=NM_001164824;refseq.name_2=NM_001164825;refseq.name_3=NM_138428;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=622;refseq.spliceDist_2=622;refseq.spliceDist_3=622;refseq.start_1=35093549;refseq.start_2=35093549;refseq.start_3=35093549;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 1/0 chr1 35142791 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.781T>G;refseq.codonCoord=261;refseq.end=35142791;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_001080418;refseq.name2=DLGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W261G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-327;refseq.start=35142791;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 35335552 . G A 80.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.59;MQ0=0;OQ=21727.18;QD=42.44;RankSumP=1.00000;SB=-10671.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.217G>A;refseq.codonCoord=73;refseq.end=35335552;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_024772;refseq.name2=ZMYM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V73M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=48;refseq.start=35335552;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 35643236 . T G 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=5.07368e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3554T>G;refseq.codonCoord=1185;refseq.end=35643236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3634;refseq.name=NM_005095;refseq.name2=ZMYM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1185G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=35643236;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 35803801 . G C 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.0644201;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2140G>C;refseq.codingCoordStr_2=c.2089G>C;refseq.codingCoordStr_3=c.2140G>C;refseq.codonCoord_1=714;refseq.codonCoord_2=697;refseq.codonCoord_3=714;refseq.end_1=35803801;refseq.end_2=35803801;refseq.end_3=35803801;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2267;refseq.mrnaCoord_2=2199;refseq.mrnaCoord_3=2539;refseq.name2_1=NCDN;refseq.name2_2=NCDN;refseq.name2_3=NCDN;refseq.name_1=NM_001014839;refseq.name_2=NM_001014841;refseq.name_3=NM_014284;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A714P;refseq.proteinCoordStr_2=p.A697P;refseq.proteinCoordStr_3=p.A714P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=387;refseq.spliceDist_2=387;refseq.spliceDist_3=387;refseq.start_1=35803801;refseq.start_2=35803801;refseq.start_3=35803801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr1 35828933 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.501998;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1016A>C;refseq.codonCoord=339;refseq.end=35828933;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1224;refseq.name=NM_178548;refseq.name2=TFAP2E;refseq.positionType=CDS;refseq.proteinCoordStr=p.H339P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-31;refseq.start=35828933;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 35986756 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2309G>C;refseq.codonCoord=770;refseq.end=35986756;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2389;refseq.name=NM_022111;refseq.name2=CLSPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S770T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=37;refseq.start=35986756;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 36001471 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.621T>G;refseq.codonCoord=207;refseq.end=36001471;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_022111;refseq.name2=CLSPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.C207W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=39;refseq.start=36001471;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 36070020 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1017A>G;refseq.codonCoord=339;refseq.end=36070020;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1207;refseq.name=NM_017629;refseq.name2=EIF2C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G339G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=21;refseq.start=36070020;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 36079466 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=141;Dels=0.00;HRun=4;HaplotypeScore=18.56;MQ=97.84;MQ0=0;OQ=98.33;QD=0.70;RankSumP=0.00000;SB=194.58;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1838A>C;refseq.codonCoord=613;refseq.end=36079466;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2028;refseq.name=NM_017629;refseq.name2=EIF2C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H613P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=114;refseq.start=36079466;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 36089158 . A C 190.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=97.94;MQ0=0;OQ=6428.96;QD=34.20;RankSumP=1.00000;SB=-817.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2394A>C;refseq.codonCoord=798;refseq.end=36089158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2584;refseq.name=NM_017629;refseq.name2=EIF2C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S798S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-84;refseq.start=36089158;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 36140168 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=298;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=98.56;MQ0=0;OQ=5292.44;QD=17.76;RankSumP=0.396705;SB=-1896.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1173C>T;refseq.codonCoord=391;refseq.end=36140168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_012199;refseq.name2=EIF2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y391Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=33;refseq.start=36140168;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr1 36152387 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1758A>C;refseq.codonCoord=586;refseq.end=36152387;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_012199;refseq.name2=EIF2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q586H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=16;refseq.start=36152387;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr1 36153558 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=597;Dels=0.00;HRun=4;HaplotypeScore=68.00;MQ=98.15;MQ0=0;OQ=2072.54;QD=3.47;RankSumP=0.000673246;SB=1003.80;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1856A>C;refseq.codonCoord=619;refseq.end=36153558;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2069;refseq.name=NM_012199;refseq.name2=EIF2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H619P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=23;refseq.start=36153558;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 36247218 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1015T>C;refseq.codingCoordStr_2=c.313T>C;refseq.codonCoord_1=339;refseq.codonCoord_2=105;refseq.end_1=36247218;refseq.end_2=36247218;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1271;refseq.mrnaCoord_2=1013;refseq.name2_1=EIF2C3;refseq.name2_2=EIF2C3;refseq.name_1=NM_024852;refseq.name_2=NM_177422;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y339H;refseq.proteinCoordStr_2=p.Y105H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=36247218;refseq.start_2=36247218;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr1 36247219 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1016A>C;refseq.codingCoordStr_2=c.314A>C;refseq.codonCoord_1=339;refseq.codonCoord_2=105;refseq.end_1=36247219;refseq.end_2=36247219;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1272;refseq.mrnaCoord_2=1014;refseq.name2_1=EIF2C3;refseq.name2_2=EIF2C3;refseq.name_1=NM_024852;refseq.name_2=NM_177422;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y339S;refseq.proteinCoordStr_2=p.Y105S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=36247219;refseq.start_2=36247219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr1 36325685 . G A 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.443624;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.914G>A;refseq.codonCoord=305;refseq.end=36325685;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_014466;refseq.name2=TEKT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R305H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=59;refseq.start=36325685;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr1 36326260 . A G 409.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.74;MQ0=0;OQ=6642.87;QD=36.70;RankSumP=1.00000;SB=-3026.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1179A>G;refseq.codonCoord=393;refseq.end=36326260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_014466;refseq.name2=TEKT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T393T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=100;refseq.start=36326260;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 36329981 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.484C>T;refseq.codonCoord=162;refseq.end=36329981;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_017825;refseq.name2=ADPRHL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L162L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-33;refseq.start=36329981;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr1 36336052 . T G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=0.000265344;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1817A>C;refseq.codonCoord=606;refseq.end=36336052;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1824;refseq.name=NM_005202;refseq.name2=COL8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N606T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1624;refseq.start=36336052;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 36409268 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=2.25466e-07;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.156T>C;refseq.codonCoord=52;refseq.end=36409268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_018067;refseq.name2=MAP7D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P52P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=110;refseq.start=36409268;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 36415007 . T C 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=96.28;MQ0=0;OQ=310.86;QD=19.43;RankSumP=1.00000;SB=-73.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1356T>C;refseq.codonCoord=452;refseq.end=36415007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1572;refseq.name=NM_018067;refseq.name2=MAP7D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S452S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-24;refseq.start=36415007;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 36525020 . C T 270.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=71.87;MQ0=7;OQ=2558.58;QD=33.67;RankSumP=1.00000;SB=-966.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.602C>T;refseq.codonCoord=201;refseq.end=36525020;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_005119;refseq.name2=THRAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-439;refseq.start=36525020;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 36580068 . C T 199.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=96.93;MQ0=0;OQ=1940.79;QD=15.28;RankSumP=0.241125;SB=-307.28;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1183G>A;refseq.codonCoord=395;refseq.end=36580068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1590;refseq.name=NM_032017;refseq.name2=STK40;refseq.positionType=CDS;refseq.proteinCoordStr=p.A395T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=94;refseq.start=36580068;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 36596527 . T C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.303828;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.242A>G;refseq.codonCoord=81;refseq.end=36596527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_032017;refseq.name2=STK40;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q81R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=44;refseq.start=36596527;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr1 36658704 . C T 292.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.05;MQ=98.68;MQ0=0;OQ=2478.77;QD=17.83;RankSumP=0.306476;SB=-707.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.919G>A;refseq.codonCoord=307;refseq.end=36658704;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_145047;refseq.name2=OSCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G307R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-41;refseq.start=36658704;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 36670654 . T C 163.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=7.72;MQ=98.71;MQ0=0;OQ=8023.47;QD=16.54;RankSumP=0.0717930;SB=-3023.45;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.391A>G;refseq.codingCoordStr_2=c.391A>G;refseq.codonCoord_1=131;refseq.codonCoord_2=131;refseq.end_1=36670654;refseq.end_2=36670654;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=507;refseq.mrnaCoord_2=507;refseq.name2_1=OSCP1;refseq.name2_2=OSCP1;refseq.name_1=NM_145047;refseq.name_2=NM_206837;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T131A;refseq.proteinCoordStr_2=p.T131A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=36670654;refseq.start_2=36670654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr1 36712071 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.366T>C;refseq.codingCoordStr_2=c.366T>C;refseq.codingCoordStr_3=c.366T>C;refseq.codingCoordStr_4=c.366T>C;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.codonCoord_3=122;refseq.codonCoord_4=122;refseq.end_1=36712071;refseq.end_2=36712071;refseq.end_3=36712071;refseq.end_4=36712071;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=544;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=544;refseq.mrnaCoord_4=544;refseq.name2_1=CSF3R;refseq.name2_2=CSF3R;refseq.name2_3=CSF3R;refseq.name2_4=CSF3R;refseq.name_1=NM_000760;refseq.name_2=NM_156038;refseq.name_3=NM_156039;refseq.name_4=NM_172313;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P122P;refseq.proteinCoordStr_2=p.P122P;refseq.proteinCoordStr_3=p.P122P;refseq.proteinCoordStr_4=p.P122P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceDist_4=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.spliceInfo_4=splice-acceptor_5;refseq.start_1=36712071;refseq.start_2=36712071;refseq.start_3=36712071;refseq.start_4=36712071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr1 37040188 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2611A>C;refseq.codonCoord=871;refseq.end=37040188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2746;refseq.name=NM_000831;refseq.name2=GRIK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T871P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=46;refseq.start=37040188;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 37091856 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1159C>T;refseq.codonCoord=387;refseq.end=37091856;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1294;refseq.name=NM_000831;refseq.name2=GRIK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R387W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-54;refseq.start=37091856;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 37091857 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1158G>T;refseq.codonCoord=386;refseq.end=37091857;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_000831;refseq.name2=GRIK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L386F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=54;refseq.start=37091857;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr1 37740028 . C G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.500000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.497G>C;refseq.codonCoord=166;refseq.end=37740028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=514;refseq.name=NM_022756;refseq.name2=MEAF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S166T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-37;refseq.start=37740028;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr1 37792334 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=15.99;MQ=98.49;MQ0=0;OQ=1338.94;QD=11.16;RankSumP=0.247959;SB=-7.01;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.84G>A;refseq.codonCoord=28;refseq.end=37792334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_024700;refseq.name2=SNIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V28V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-141;refseq.start=37792334;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 37795903 . C T 100.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=98.89;MQ0=0;OQ=2074.05;QD=14.30;RankSumP=0.224686;SB=-563.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.260C>T;refseq.codonCoord=87;refseq.end=37795903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_003462;refseq.name2=DNALI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A87V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-34;refseq.start=37795903;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 37958234 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=2;HaplotypeScore=1.32;MQ=98.61;MQ0=0;OQ=1894.26;QD=15.66;RankSumP=0.341636;SB=-604.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2496C>T;refseq.codonCoord=832;refseq.end=37958234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2582;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F832F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-67;refseq.start=37958234;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr1 37958310 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.53;MQ0=0;OQ=413.76;QD=8.80;RankSumP=0.532383;SB=-91.55;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2420G>A;refseq.codonCoord=807;refseq.end=37958310;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2506;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R807Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=37958310;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 37958793 . C G 181.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=97.87;MQ0=0;OQ=611.13;QD=16.98;RankSumP=0.684914;SB=-139.56;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2229G>C;refseq.codonCoord=743;refseq.end=37958793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2315;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V743V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=21;refseq.start=37958793;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 37960034 . A G 114.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=95.93;MQ0=0;OQ=588.35;QD=15.48;RankSumP=0.212925;SB=-287.53;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2031T>C;refseq.codonCoord=677;refseq.end=37960034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2117;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H677H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=71;refseq.start=37960034;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr1 37960040 . G A 125.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=96.38;MQ0=0;OQ=588.07;QD=16.34;RankSumP=0.0824811;SB=-245.52;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2025C>T;refseq.codonCoord=675;refseq.end=37960040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2111;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A675A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=65;refseq.start=37960040;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr1 37961327 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=98.70;MQ0=0;OQ=2768.47;QD=9.89;RankSumP=0.249838;SB=-1301.10;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1933G>A;refseq.codonCoord=645;refseq.end=37961327;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V645I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-28;refseq.start=37961327;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 37961355 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=98.74;MQ0=0;OQ=2618.58;QD=11.29;RankSumP=0.203803;SB=-1321.76;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1905G>A;refseq.codonCoord=635;refseq.end=37961355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1991;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L635L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-56;refseq.start=37961355;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr1 37961374 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=210;Dels=0.00;HRun=2;HaplotypeScore=7.00;MQ=98.77;MQ0=0;OQ=2019.91;QD=9.62;RankSumP=0.419069;SB=-960.17;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1886T>C;refseq.codonCoord=629;refseq.end=37961374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1972;refseq.name=NM_001099439;refseq.name2=EPHA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L629P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=52;refseq.start=37961374;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr1 37999673 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.84;MQ0=0;OQ=713.40;QD=9.51;RankSumP=0.321381;SB=-232.90;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.841T>A;refseq.codingCoordStr_2=c.841T>A;refseq.codonCoord_1=281;refseq.codonCoord_2=281;refseq.end_1=37999673;refseq.end_2=37999673;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=927;refseq.name2_1=EPHA10;refseq.name2_2=EPHA10;refseq.name_1=NM_001099439;refseq.name_2=NM_173641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F281I;refseq.proteinCoordStr_2=p.F281I;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-10;refseq.spliceDist_2=670;refseq.spliceInfo_1=splice-donor_-10;refseq.start_1=37999673;refseq.start_2=37999673;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr1 38000237 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.277A>G;refseq.codingCoordStr_2=c.277A>G;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=38000237;refseq.end_2=38000237;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=363;refseq.mrnaCoord_2=363;refseq.name2_1=EPHA10;refseq.name2_2=EPHA10;refseq.name_1=NM_001099439;refseq.name_2=NM_173641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I93V;refseq.proteinCoordStr_2=p.I93V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=38000237;refseq.start_2=38000237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=FilteredInAll GT 1/0 chr1 38060857 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1290A>C;refseq.codonCoord=430;refseq.end=38060857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1431;refseq.name=NM_005955;refseq.name2=MTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P430P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=119;refseq.start=38060857;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 38111382 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=26.23;MQ=98.89;MQ0=0;OQ=10518.73;QD=18.99;RankSumP=0.414393;SB=-3305.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1994T>C;refseq.codonCoord=665;refseq.end=38111382;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2088;refseq.name=NM_005540;refseq.name2=INPP5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M665T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=43;refseq.start=38111382;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr1 38121157 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1340A>G;refseq.codonCoord=447;refseq.end=38121157;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1434;refseq.name=NM_005540;refseq.name2=INPP5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D447G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=21;refseq.start=38121157;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 38184032 . G A 151.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=97.44;MQ0=0;OQ=2189.42;QD=15.64;RankSumP=0.493270;SB=-598.04;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.135C>T;refseq.codonCoord=45;refseq.end=38184032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_005540;refseq.name2=INPP5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H45H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-18;refseq.start=38184032;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 38207705 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1189T>G;refseq.codonCoord=397;refseq.end=38207705;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1313;refseq.name=NM_006802;refseq.name2=SF3A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y397D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=19;refseq.start=38207705;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr1 38207855 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1145A>C;refseq.codonCoord=382;refseq.end=38207855;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_006802;refseq.name2=SF3A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N382T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-26;refseq.start=38207855;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 38222497 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=9.77;MQ=97.86;MQ0=0;OQ=2123.23;QD=13.52;RankSumP=0.481033;SB=-571.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.399A>G;refseq.codonCoord=133;refseq.end=38222497;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_006802;refseq.name2=SF3A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E133E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=23;refseq.start=38222497;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 38236091 . C T 326.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=98.62;MQ0=0;OQ=6198.69;QD=19.49;RankSumP=0.0831082;SB=-2531.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.540G>A;refseq.codonCoord=180;refseq.end=38236091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_004468;refseq.name2=FHL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P180P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=39;refseq.start=38236091;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 39112869 . C T 224.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.96;MQ0=0;OQ=1889.99;QD=15.75;RankSumP=0.488427;SB=-667.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1489G>A;refseq.codonCoord=497;refseq.end=39112869;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1770;refseq.name=NM_030772;refseq.name2=GJA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V497I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-544;refseq.start=39112869;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr1 39113449 . A G 217.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=349;Dels=0.00;HRun=1;HaplotypeScore=5.40;MQ=98.85;MQ0=0;OQ=7138.16;QD=20.45;RankSumP=0.391767;SB=-2525.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.909T>C;refseq.codonCoord=303;refseq.end=39113449;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_030772;refseq.name2=GJA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S303S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=1004;refseq.start=39113449;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr1 39124858 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1599.61;QD=12.40;RankSumP=0.200485;SB=-795.50;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.817C>A;refseq.codonCoord=273;refseq.end=39124858;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_017821;refseq.name2=RHBDL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L273M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=85;refseq.start=39124858;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 39521508 . G A 177.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=11732.97;QD=43.62;RankSumP=1.00000;SB=-5647.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.771G>A;refseq.codonCoord=257;refseq.end=39521508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=976;refseq.name=NM_012090;refseq.name2=MACF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q257Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-53;refseq.start=39521508;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr1 39571650 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2123A>G;refseq.codonCoord_2=708;refseq.end_1=39587726;refseq.end_2=39571650;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2254;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E708G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=2254;refseq.start_1=39565623;refseq.start_2=39571650;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr1 39579197 . C T 177.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=10385.06;QD=42.74;RankSumP=1.00000;SB=-4671.12;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.5886C>T;refseq.codonCoord_2=1962;refseq.end_1=39587726;refseq.end_2=39579197;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=6017;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C1962C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=-16;refseq.start_1=39565623;refseq.start_2=39579197;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr1 39585409 . C A 411.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.87;MQ0=0;OQ=2894.97;QD=39.12;RankSumP=1.00000;SB=-853.52;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.6075C>A;refseq.codonCoord_2=2025;refseq.end_1=39587726;refseq.end_2=39585409;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=6206;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A2025A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-61;refseq.start_1=39565623;refseq.start_2=39585409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr1 39597038 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.312597;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5840G>A;refseq.codingCoordStr_2=c.7346G>A;refseq.codonCoord_1=1947;refseq.codonCoord_2=2449;refseq.end_1=39597038;refseq.end_2=39597038;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6045;refseq.mrnaCoord_2=7477;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W1947*;refseq.proteinCoordStr_2=p.W2449*;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=39597038;refseq.start_2=39597038;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=FilteredInAll GT 1/0 chr1 39625577 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=141;Dels=0.00;HRun=0;HaplotypeScore=5.88;MQ=98.35;MQ0=0;OQ=2666.90;QD=18.91;RankSumP=0.132998;SB=-1183.39;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.8290T>C;refseq.codingCoordStr_2=c.9796T>C;refseq.codonCoord_1=2764;refseq.codonCoord_2=3266;refseq.end_1=39625577;refseq.end_2=39625577;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8495;refseq.mrnaCoord_2=9927;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2764L;refseq.proteinCoordStr_2=p.L3266L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=132;refseq.spliceDist_2=132;refseq.start_1=39625577;refseq.start_2=39625577;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr1 39697455 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.15130T>G;refseq.codingCoordStr_2=c.16636T>G;refseq.codonCoord_1=5044;refseq.codonCoord_2=5546;refseq.end_1=39697455;refseq.end_2=39697455;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=15335;refseq.mrnaCoord_2=16767;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L5044V;refseq.proteinCoordStr_2=p.L5546V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=39697455;refseq.start_2=39697455;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=FilteredInAll GT 1/0 chr1 39700235 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.15440C>G;refseq.codingCoordStr_2=c.16946C>G;refseq.codonCoord_1=5147;refseq.codonCoord_2=5649;refseq.end_1=39700235;refseq.end_2=39700235;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=15645;refseq.mrnaCoord_2=17077;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A5147G;refseq.proteinCoordStr_2=p.A5649G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=39700235;refseq.start_2=39700235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr1 39706902 . T G 44.98 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=231;Dels=0.00;HRun=2;HaplotypeScore=19.48;MQ=97.95;MQ0=0;QD=0.19;RankSumP=0.00000;SB=266.89;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.15605T>G;refseq.codingCoordStr_2=c.17129T>G;refseq.codonCoord_1=5202;refseq.codonCoord_2=5710;refseq.end_1=39706902;refseq.end_2=39706902;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=15810;refseq.mrnaCoord_2=17260;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V5202G;refseq.proteinCoordStr_2=p.V5710G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=39706902;refseq.start_2=39706902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr1 39718248 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=166;Dels=0.00;HRun=4;HaplotypeScore=12.54;MQ=98.21;MQ0=0;OQ=58.28;QD=0.35;RankSumP=0.00000;SB=164.56;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.15886A>C;refseq.codingCoordStr_2=c.17410A>C;refseq.codonCoord_1=5296;refseq.codonCoord_2=5804;refseq.end_1=39718248;refseq.end_2=39718248;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=16091;refseq.mrnaCoord_2=17541;refseq.name2_1=MACF1;refseq.name2_2=MACF1;refseq.name_1=NM_012090;refseq.name_2=NM_033044;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T5296P;refseq.proteinCoordStr_2=p.T5804P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=39718248;refseq.start_2=39718248;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 39730500 . A G 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=49.14;MQ0=0;OQ=1155.62;QD=26.87;RankSumP=1.00000;SB=-137.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.250A>G;refseq.codonCoord=84;refseq.end=39730500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_181809;refseq.name2=BMP8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M84V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-85;refseq.start=39730500;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 39760671 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.650670;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.878G>A;refseq.codonCoord_2=293;refseq.end_1=39760671;refseq.end_2=39760671;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2505;refseq.mrnaCoord_2=1224;refseq.name2_1=LOC728448;refseq.name2_2=BMP8A;refseq.name_1=NR_003929;refseq.name_2=NM_181809;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R293H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=94;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=39760671;refseq.start_2=39760671;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=soap GT 1/0 chr1 39760732 . T C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.183489;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.939T>C;refseq.codonCoord_2=313;refseq.end_1=39760732;refseq.end_2=39760732;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2444;refseq.mrnaCoord_2=1285;refseq.name2_1=LOC728448;refseq.name2_2=BMP8A;refseq.name_1=NR_003929;refseq.name_2=NM_181809;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L313L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=33;refseq.spliceDist_2=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=39760732;refseq.start_2=39760732;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr1 39803446 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.26022e-07;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1164A>G;refseq.codingCoordStr_2=c.1164A>G;refseq.codingCoordStr_3=c.1164A>G;refseq.codonCoord_1=388;refseq.codonCoord_2=388;refseq.codonCoord_3=388;refseq.end_1=39803446;refseq.end_2=39803446;refseq.end_3=39803446;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2062;refseq.mrnaCoord_2=2062;refseq.mrnaCoord_3=2062;refseq.name2_1=PABPC4;refseq.name2_2=PABPC4;refseq.name2_3=PABPC4;refseq.name_1=NM_001135653;refseq.name_2=NM_001135654;refseq.name_3=NM_003819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G388G;refseq.proteinCoordStr_2=p.G388G;refseq.proteinCoordStr_3=p.G388G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.spliceDist_3=-82;refseq.start_1=39803446;refseq.start_2=39803446;refseq.start_3=39803446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr1 39870915 . T C 224.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.60;MQ0=0;OQ=2604.99;QD=35.68;RankSumP=1.00000;SB=-592.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.140A>G;refseq.codonCoord=47;refseq.end=39870915;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_014571;refseq.name2=HEYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H47R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=39870915;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 39922229 . G T 246.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=3.21;MQ=98.23;MQ0=0;OQ=6767.06;QD=34.88;RankSumP=1.00000;SB=-1918.04;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.345C>A;refseq.codonCoord=115;refseq.end=39922229;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_016257;refseq.name2=HPCAL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R115R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-34;refseq.start=39922229;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 39922743 . G A 432.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.43;MQ0=0;OQ=3542.26;QD=40.72;RankSumP=1.00000;SB=-1538.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.120C>T;refseq.codonCoord=40;refseq.end=39922743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_016257;refseq.name2=HPCAL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S40S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-43;refseq.start=39922743;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 39991282 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=131;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=98.93;MQ0=0;OQ=2223.78;QD=16.98;RankSumP=0.375298;SB=-296.21;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.808G>A;refseq.codingCoordStr_2=c.808G>A;refseq.codingCoordStr_3=c.610G>A;refseq.codonCoord_1=270;refseq.codonCoord_2=270;refseq.codonCoord_3=204;refseq.end_1=39991282;refseq.end_2=39991282;refseq.end_3=39991282;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=851;refseq.mrnaCoord_2=851;refseq.mrnaCoord_3=843;refseq.name2_1=PPIE;refseq.name2_2=PPIE;refseq.name2_3=PPIE;refseq.name_1=NM_006112;refseq.name_2=NM_203456;refseq.name_3=NM_203457;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E270K;refseq.proteinCoordStr_2=p.E270K;refseq.proteinCoordStr_3=p.E204K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=39991282;refseq.start_2=39991282;refseq.start_3=39991282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/0 chr1 40001955 . A G 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=1;HaplotypeScore=9.78;MQ=31.90;MQ0=84;OQ=689.54;QD=2.93;RankSumP=0.466667;SB=-10.55;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.845A>G;refseq.codonCoord_2=282;refseq.end_1=40001960;refseq.end_2=40001955;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=888;refseq.name2_1=BMP8B;refseq.name2_2=PPIE;refseq.name_1=NM_001720;refseq.name_2=NM_203456;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E282G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=40001472;refseq.start_2=40001955;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr1 40001980 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.295410;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.939C>T;refseq.codingCoordStr_2=c.870G>A;refseq.codonCoord_1=313;refseq.codonCoord_2=290;refseq.end_1=40001980;refseq.end_2=40001980;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1315;refseq.mrnaCoord_2=913;refseq.name2_1=BMP8B;refseq.name2_2=PPIE;refseq.name_1=NM_001720;refseq.name_2=NM_203456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L313L;refseq.proteinCoordStr_2=p.P290P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=33;refseq.spliceInfo_1=splice-donor_-10;refseq.start_1=40001980;refseq.start_2=40001980;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Pro;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CCA;set=soap GT 1/0 chr1 40026469 . G T 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.304762;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.276C>A;refseq.codonCoord=92;refseq.end=40026469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_001720;refseq.name2=BMP8B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-59;refseq.start=40026469;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 0/1 chr1 40082465 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1129A>C;refseq.codonCoord=377;refseq.end=40082465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_017646;refseq.name2=TRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T377P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=13;refseq.start=40082465;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 40121718 . G A 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=19.84;MQ=98.21;MQ0=0;OQ=2792.38;QD=23.47;RankSumP=1.00000;SB=-793.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.33C>T;refseq.codonCoord=11;refseq.end=40121718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=47;refseq.name=NM_017646;refseq.name2=TRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P11P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=47;refseq.start=40121718;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 40135641 . G C 228.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.46;MQ0=0;OQ=7855.30;QD=45.15;RankSumP=1.00000;SB=-3582.59;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1085C>G;refseq.codingCoordStr_2=c.1085C>G;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.end_1=40135641;refseq.end_2=40135641;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1666;refseq.mrnaCoord_2=1302;refseq.name2_1=MYCL1;refseq.name2_2=MYCL1;refseq.name_1=NM_001033081;refseq.name_2=NM_001033082;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T362S;refseq.proteinCoordStr_2=p.T362S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=589;refseq.spliceDist_2=589;refseq.start_1=40135641;refseq.start_2=40135641;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr1 40305853 . T G 317.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=4.43;MQ=95.11;MQ0=0;OQ=5156.44;QD=38.77;RankSumP=1.00000;SB=-1668.24;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.685T>G;refseq.codingCoordStr_2=c.685T>G;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.end_1=40305853;refseq.end_2=40305853;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=896;refseq.mrnaCoord_2=914;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C229G;refseq.proteinCoordStr_2=p.C229G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=40305853;refseq.start_2=40305853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr1 40305874 . T G 185.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=91.53;MQ0=0;OQ=3131.61;QD=37.73;RankSumP=1.00000;SB=-1192.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.706T>G;refseq.codingCoordStr_2=c.706T>G;refseq.codonCoord_1=236;refseq.codonCoord_2=236;refseq.end_1=40305874;refseq.end_2=40305874;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=917;refseq.mrnaCoord_2=935;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C236G;refseq.proteinCoordStr_2=p.C236G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.start_1=40305874;refseq.start_2=40305874;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 40305902 rs6665933 T G 381.76 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=89.10;MQ0=0;OQ=3935.69;QD=38.59;SB=-1575.21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.734T>G;refseq.codingCoordStr_2=c.734T>G;refseq.codonCoord_1=245;refseq.codonCoord_2=245;refseq.end_1=40305902;refseq.end_2=40305902;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=945;refseq.mrnaCoord_2=963;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I245S;refseq.proteinCoordStr_2=p.I245S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=40305902;refseq.start_2=40305902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=gatk GT:AD:DP:GL:GQ 1/1:0,102:99:-392.57,-29.81,-0.02:99 chr1 40305907 rs6665936 T G 204.63 PASS AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=89.92;MQ0=0;OQ=4023.01;QD=38.68;SB=-1481.53;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.739T>G;refseq.codingCoordStr_2=c.739T>G;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.end_1=40305907;refseq.end_2=40305907;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=968;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C247G;refseq.proteinCoordStr_2=p.C247G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=40305907;refseq.start_2=40305907;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=gatk GT:AD:DP:GL:GQ 1/1:0,104:101:-401.30,-30.41,-0.02:99 chr1 40305913 . T G 315.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.55;MQ0=0;OQ=4338.23;QD=39.08;RankSumP=1.00000;SB=-1308.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.745T>G;refseq.codingCoordStr_2=c.745T>G;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.end_1=40305913;refseq.end_2=40305913;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=956;refseq.mrnaCoord_2=974;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y249D;refseq.proteinCoordStr_2=p.Y249D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=40305913;refseq.start_2=40305913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr1 40305934 . T G 278.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=6.90;MQ=93.57;MQ0=0;OQ=6307.92;QD=39.92;RankSumP=1.00000;SB=-2563.24;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.766T>G;refseq.codingCoordStr_2=c.766T>G;refseq.codonCoord_1=256;refseq.codonCoord_2=256;refseq.end_1=40305934;refseq.end_2=40305934;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=977;refseq.mrnaCoord_2=995;refseq.name2_1=CAP1;refseq.name2_2=CAP1;refseq.name_1=NM_001105530;refseq.name_2=NM_006367;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S256A;refseq.proteinCoordStr_2=p.S256A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=40305934;refseq.start_2=40305934;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr1 40434001 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.585A>C;refseq.codonCoord=195;refseq.end=40434001;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_012421;refseq.name2=RLF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q195H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-23;refseq.start=40434001;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr1 40478014 . C G 234.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=98.58;MQ0=0;OQ=5967.51;QD=20.94;RankSumP=0.463036;SB=-2284.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5053C>G;refseq.codonCoord=1685;refseq.end=40478014;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5084;refseq.name=NM_012421;refseq.name2=RLF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1685E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1167;refseq.start=40478014;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 40478313 . A T 287.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.88;MQ0=0;OQ=2750.60;QD=15.54;RankSumP=0.141195;SB=-1102.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5352A>T;refseq.codonCoord=1784;refseq.end=40478313;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5383;refseq.name=NM_012421;refseq.name2=RLF;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1784D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-868;refseq.start=40478313;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 40489757 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.453A>C;refseq.codonCoord=151;refseq.end=40489757;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_001008740;refseq.name2=TMCO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K151N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-196;refseq.start=40489757;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr1 40496655 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr1;refseq.codingCoordStr=c.123+2;refseq.end=40496655;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005857;refseq.name2=ZMPSTE24;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=40496655;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 40539561 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=3.65611e-06;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1950T>G;refseq.codonCoord=650;refseq.end=40539561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2020;refseq.name=NM_001852;refseq.name2=COL9A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G650G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=80;refseq.start=40539561;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 40545710 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=98.36;MQ0=0;OQ=1207.47;QD=9.36;RankSumP=0.245393;SB=-109.65;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1003C>G;refseq.codonCoord=335;refseq.end=40545710;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1073;refseq.name=NM_001852;refseq.name2=COL9A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L335V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=40545710;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 40653628 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=674;Dels=0.00;HRun=2;HaplotypeScore=12.32;MQ=98.79;MQ0=0;OQ=30727.56;QD=45.59;RankSumP=1.00000;SB=-8613.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.669C>G;refseq.codonCoord=223;refseq.end=40653628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_022733;refseq.name2=SMAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S223S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-13;refseq.start=40653628;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 40977156 . C T 305.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.86;MQ0=0;OQ=4569.07;QD=18.80;RankSumP=0.131633;SB=-1231.08;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.54C>T;refseq.codingCoordStr_2=c.54C>T;refseq.codingCoordStr_3=c.54C>T;refseq.codingCoordStr_4=c.54C>T;refseq.codingCoordStr_5=c.54C>T;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.codonCoord_4=18;refseq.codonCoord_5=18;refseq.end_1=40977156;refseq.end_2=40977156;refseq.end_3=40977156;refseq.end_4=40977156;refseq.end_5=40977156;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=360;refseq.mrnaCoord_2=360;refseq.mrnaCoord_3=360;refseq.mrnaCoord_4=737;refseq.mrnaCoord_5=360;refseq.name2_1=NFYC;refseq.name2_2=NFYC;refseq.name2_3=NFYC;refseq.name2_4=NFYC;refseq.name2_5=NFYC;refseq.name_1=NM_001142587;refseq.name_2=NM_001142588;refseq.name_3=NM_001142589;refseq.name_4=NM_001142590;refseq.name_5=NM_014223;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S18S;refseq.proteinCoordStr_2=p.S18S;refseq.proteinCoordStr_3=p.S18S;refseq.proteinCoordStr_4=p.S18S;refseq.proteinCoordStr_5=p.S18S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.start_1=40977156;refseq.start_2=40977156;refseq.start_3=40977156;refseq.start_4=40977156;refseq.start_5=40977156;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 0/1 chr1 41057674 . T C 274.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=3.80;MQ=98.97;MQ0=0;OQ=5276.07;QD=35.65;RankSumP=1.00000;SB=-2409.13;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.777T>C;refseq.codingCoordStr_2=c.777T>C;refseq.codonCoord_1=259;refseq.codonCoord_2=259;refseq.end_1=41057674;refseq.end_2=41057674;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=859;refseq.mrnaCoord_2=859;refseq.name2_1=KCNQ4;refseq.name2_2=KCNQ4;refseq.name_1=NM_004700;refseq.name_2=NM_172163;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A259A;refseq.proteinCoordStr_2=p.A259A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=41057674;refseq.start_2=41057674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 41069415 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=97.48;MQ0=0;OQ=515.00;QD=7.92;RankSumP=0.497141;SB=-231.91;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1365T>G;refseq.codingCoordStr_2=c.1203T>G;refseq.codonCoord_1=455;refseq.codonCoord_2=401;refseq.end_1=41069415;refseq.end_2=41069415;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1447;refseq.mrnaCoord_2=1285;refseq.name2_1=KCNQ4;refseq.name2_2=KCNQ4;refseq.name_1=NM_004700;refseq.name_2=NM_172163;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H455Q;refseq.proteinCoordStr_2=p.H401Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=41069415;refseq.start_2=41069415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr1 41351703 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.codingCoordStr_2=c.554G>C;refseq.codingCoordStr_3=c.371G>C;refseq.codingCoordStr_4=c.584G>C;refseq.codingCoordStr_5=c.371G>C;refseq.codingCoordStr_6=c.371G>C;refseq.codingCoordStr_7=c.413G>C;refseq.codonCoord_2=185;refseq.codonCoord_3=124;refseq.codonCoord_4=195;refseq.codonCoord_5=124;refseq.codonCoord_6=124;refseq.codonCoord_7=138;refseq.end_1=41381126;refseq.end_2=41351703;refseq.end_3=41351703;refseq.end_4=41351703;refseq.end_5=41351703;refseq.end_6=41351703;refseq.end_7=41351703;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=923;refseq.mrnaCoord_3=995;refseq.mrnaCoord_4=786;refseq.mrnaCoord_5=715;refseq.mrnaCoord_6=810;refseq.mrnaCoord_7=924;refseq.name2_1=SCMH1;refseq.name2_2=SCMH1;refseq.name2_3=SCMH1;refseq.name2_4=SCMH1;refseq.name2_5=SCMH1;refseq.name2_6=SCMH1;refseq.name2_7=SCMH1;refseq.name_1=NM_001172222;refseq.name_2=NM_001031694;refseq.name_3=NM_001172218;refseq.name_4=NM_001172219;refseq.name_5=NM_001172220;refseq.name_6=NM_001172221;refseq.name_7=NM_012236;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.C185S;refseq.proteinCoordStr_3=p.C124S;refseq.proteinCoordStr_4=p.C195S;refseq.proteinCoordStr_5=p.C124S;refseq.proteinCoordStr_6=p.C124S;refseq.proteinCoordStr_7=p.C138S;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceAA_6=Cys;refseq.referenceAA_7=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.referenceCodon_6=TGC;refseq.referenceCodon_7=TGC;refseq.spliceDist_2=83;refseq.spliceDist_3=83;refseq.spliceDist_4=83;refseq.spliceDist_5=83;refseq.spliceDist_6=83;refseq.spliceDist_7=83;refseq.start_1=41313721;refseq.start_2=41351703;refseq.start_3=41351703;refseq.start_4=41351703;refseq.start_5=41351703;refseq.start_6=41351703;refseq.start_7=41351703;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;refseq.variantCodon_7=TCC;set=FilteredInAll GT 1/0 chr1 41748804 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=282.22;QD=17.64;RankSumP=0.587762;SB=-89.31;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.7123C>T;refseq.codingCoordStr_2=c.7126C>T;refseq.codonCoord_1=2375;refseq.codonCoord_2=2376;refseq.end_1=41748804;refseq.end_2=41748804;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8256;refseq.mrnaCoord_2=8339;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2375S;refseq.proteinCoordStr_2=p.P2376S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-534;refseq.spliceDist_2=-534;refseq.start_1=41748804;refseq.start_2=41748804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr1 41748915 . T C 8 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=90.19;MQ0=0;OQ=95.17;QD=23.79;RankSumP=1.00000;SB=-51.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.7012A>G;refseq.codingCoordStr_2=c.7015A>G;refseq.codonCoord_1=2338;refseq.codonCoord_2=2339;refseq.end_1=41748915;refseq.end_2=41748915;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8145;refseq.mrnaCoord_2=8228;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2338A;refseq.proteinCoordStr_2=p.T2339A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=607;refseq.spliceDist_2=610;refseq.start_1=41748915;refseq.start_2=41748915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/1 chr1 41748932 . T C 34.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=92.02;MQ0=0;QD=6.81;RankSumP=0.400000;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6995A>G;refseq.codingCoordStr_2=c.6998A>G;refseq.codonCoord_1=2332;refseq.codonCoord_2=2333;refseq.end_1=41748932;refseq.end_2=41748932;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8128;refseq.mrnaCoord_2=8211;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E2332G;refseq.proteinCoordStr_2=p.E2333G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=590;refseq.spliceDist_2=593;refseq.start_1=41748932;refseq.start_2=41748932;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap-filterIngatk GT 1/0 chr1 41749116 . C T 250.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=98.35;MQ0=0;OQ=1368.10;QD=17.54;RankSumP=0.412608;SB=-535.10;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6811G>A;refseq.codingCoordStr_2=c.6814G>A;refseq.codonCoord_1=2271;refseq.codonCoord_2=2272;refseq.end_1=41749116;refseq.end_2=41749116;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7944;refseq.mrnaCoord_2=8027;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2271R;refseq.proteinCoordStr_2=p.G2272R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=406;refseq.spliceDist_2=409;refseq.start_1=41749116;refseq.start_2=41749116;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr1 41749394 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.23847e-09;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6533A>C;refseq.codingCoordStr_2=c.6536A>C;refseq.codonCoord_1=2178;refseq.codonCoord_2=2179;refseq.end_1=41749394;refseq.end_2=41749394;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7666;refseq.mrnaCoord_2=7749;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H2178P;refseq.proteinCoordStr_2=p.H2179P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=128;refseq.spliceDist_2=131;refseq.start_1=41749394;refseq.start_2=41749394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 41751153 . T G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=6;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=155.14;QD=25.86;RankSumP=1.00000;SB=-91.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6326A>C;refseq.codingCoordStr_2=c.6326A>C;refseq.codonCoord_1=2109;refseq.codonCoord_2=2109;refseq.end_1=41751153;refseq.end_2=41751153;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7459;refseq.mrnaCoord_2=7539;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D2109A;refseq.proteinCoordStr_2=p.D2109A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=41751153;refseq.start_2=41751153;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/1 chr1 41751412 . C G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2494.32;QD=47.06;RankSumP=1.00000;SB=-1224.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.6067G>C;refseq.codingCoordStr_2=c.6067G>C;refseq.codonCoord_1=2023;refseq.codonCoord_2=2023;refseq.end_1=41751412;refseq.end_2=41751412;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7200;refseq.mrnaCoord_2=7280;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A2023P;refseq.proteinCoordStr_2=p.A2023P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-339;refseq.spliceDist_2=-339;refseq.start_1=41751412;refseq.start_2=41751412;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr1 41751743 . A G 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=94.28;MQ0=0;OQ=719.52;QD=25.70;RankSumP=1.00000;SB=-211.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5736T>C;refseq.codingCoordStr_2=c.5736T>C;refseq.codonCoord_1=1912;refseq.codonCoord_2=1912;refseq.end_1=41751743;refseq.end_2=41751743;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6869;refseq.mrnaCoord_2=6949;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1912A;refseq.proteinCoordStr_2=p.A1912A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=266;refseq.spliceDist_2=266;refseq.start_1=41751743;refseq.start_2=41751743;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 41763048 . G A 118.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=1577.79;QD=15.78;RankSumP=0.243164;SB=-349.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5328C>T;refseq.codingCoordStr_2=c.5328C>T;refseq.codonCoord_1=1776;refseq.codonCoord_2=1776;refseq.end_1=41763048;refseq.end_2=41763048;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6461;refseq.mrnaCoord_2=6541;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1776H;refseq.proteinCoordStr_2=p.H1776H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=41763048;refseq.start_2=41763048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr1 41818334 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=455;Dels=0.00;HRun=1;HaplotypeScore=17.25;MQ=98.80;MQ0=0;OQ=7884.94;QD=17.33;RankSumP=0.283681;SB=-2030.82;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4722A>G;refseq.codingCoordStr_2=c.4722A>G;refseq.codonCoord_1=1574;refseq.codonCoord_2=1574;refseq.end_1=41818334;refseq.end_2=41818334;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5855;refseq.mrnaCoord_2=5935;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1574S;refseq.proteinCoordStr_2=p.S1574S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-340;refseq.spliceDist_2=-340;refseq.start_1=41818334;refseq.start_2=41818334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr1 41819399 . C T 65.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=97.24;MQ0=0;OQ=1213.85;QD=33.72;RankSumP=1.00000;SB=-244.32;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3657G>A;refseq.codingCoordStr_2=c.3657G>A;refseq.codonCoord_1=1219;refseq.codonCoord_2=1219;refseq.end_1=41819399;refseq.end_2=41819399;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4790;refseq.mrnaCoord_2=4870;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1219Q;refseq.proteinCoordStr_2=p.Q1219Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-1405;refseq.spliceDist_2=-1405;refseq.start_1=41819399;refseq.start_2=41819399;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr1 41819651 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=5.02530e-09;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3405G>A;refseq.codingCoordStr_2=c.3405G>A;refseq.codonCoord_1=1135;refseq.codonCoord_2=1135;refseq.end_1=41819651;refseq.end_2=41819651;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4538;refseq.mrnaCoord_2=4618;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1135E;refseq.proteinCoordStr_2=p.E1135E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-1657;refseq.spliceDist_2=-1657;refseq.start_1=41819651;refseq.start_2=41819651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr1 41819795 . C G 189.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=98.42;MQ0=0;OQ=4126.60;QD=24.56;RankSumP=0.351025;SB=-1752.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3261G>C;refseq.codingCoordStr_2=c.3261G>C;refseq.codonCoord_1=1087;refseq.codonCoord_2=1087;refseq.end_1=41819795;refseq.end_2=41819795;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4394;refseq.mrnaCoord_2=4474;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1087H;refseq.proteinCoordStr_2=p.Q1087H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-1801;refseq.spliceDist_2=-1801;refseq.start_1=41819795;refseq.start_2=41819795;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr1 41821332 . T C 303.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=2551.29;QD=34.48;RankSumP=1.00000;SB=-455.52;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1724A>G;refseq.codingCoordStr_2=c.1724A>G;refseq.codonCoord_1=575;refseq.codonCoord_2=575;refseq.end_1=41821332;refseq.end_2=41821332;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2857;refseq.mrnaCoord_2=2937;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H575R;refseq.proteinCoordStr_2=p.H575R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=2245;refseq.spliceDist_2=2245;refseq.start_1=41821332;refseq.start_2=41821332;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr1 41821619 . G A 303.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.63;MQ0=0;OQ=5746.49;QD=38.06;RankSumP=1.00000;SB=-2849.76;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1437C>T;refseq.codingCoordStr_2=c.1437C>T;refseq.codonCoord_1=479;refseq.codonCoord_2=479;refseq.end_1=41821619;refseq.end_2=41821619;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2570;refseq.mrnaCoord_2=2650;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S479S;refseq.proteinCoordStr_2=p.S479S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=1958;refseq.spliceDist_2=1958;refseq.start_1=41821619;refseq.start_2=41821619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr1 41821727 . C G 284.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=97.76;MQ0=0;OQ=5129.47;QD=45.80;RankSumP=1.00000;SB=-1939.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1329G>C;refseq.codingCoordStr_2=c.1329G>C;refseq.codonCoord_1=443;refseq.codonCoord_2=443;refseq.end_1=41821727;refseq.end_2=41821727;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2462;refseq.mrnaCoord_2=2542;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L443L;refseq.proteinCoordStr_2=p.L443L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=1850;refseq.spliceDist_2=1850;refseq.start_1=41821727;refseq.start_2=41821727;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr1 41821747 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=1.40950e-05;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1309A>C;refseq.codingCoordStr_2=c.1309A>C;refseq.codonCoord_1=437;refseq.codonCoord_2=437;refseq.end_1=41821747;refseq.end_2=41821747;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2442;refseq.mrnaCoord_2=2522;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T437P;refseq.proteinCoordStr_2=p.T437P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1830;refseq.spliceDist_2=1830;refseq.start_1=41821747;refseq.start_2=41821747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 41822953 . C T 109.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.82;MQ0=0;OQ=787.05;QD=13.12;RankSumP=0.219210;SB=-365.44;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.103G>A;refseq.codingCoordStr_2=c.103G>A;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=41822953;refseq.end_2=41822953;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1236;refseq.mrnaCoord_2=1316;refseq.name2_1=HIVEP3;refseq.name2_2=HIVEP3;refseq.name_1=NM_001127714;refseq.name_2=NM_024503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V35I;refseq.proteinCoordStr_2=p.V35I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=624;refseq.spliceDist_2=624;refseq.start_1=41822953;refseq.start_2=41822953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr1 42391726 . A G 143.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=98.07;MQ0=0;OQ=2710.66;QD=22.40;RankSumP=1.00000;SB=-690.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.18A>G;refseq.codonCoord=6;refseq.end=42391726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_007102;refseq.name2=GUCA2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=48;refseq.start=42391726;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 42466184 . A G 296.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.50;MQ0=0;OQ=11371.83;QD=38.81;RankSumP=1.00000;SB=-4884.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.485T>C;refseq.codonCoord=162;refseq.end=42466184;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_014947;refseq.name2=FOXJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V162A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=41;refseq.start=42466184;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 42939158 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.153668;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.860A>G;refseq.codonCoord=287;refseq.end=42939158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_004559;refseq.name2=YBX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y287C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=120;refseq.start=42939158;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr1 43068782 . C T 183.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=8.29;MQ=98.87;MQ0=0;OQ=5195.26;QD=16.65;RankSumP=0.300444;SB=-785.85;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.76C>T;refseq.codingCoordStr_2=c.76C>T;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=43068782;refseq.end_2=43068782;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=346;refseq.mrnaCoord_2=242;refseq.name2_1=ERMAP;refseq.name2_2=ERMAP;refseq.name_1=NM_001017922;refseq.name_2=NM_018538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H26Y;refseq.proteinCoordStr_2=p.H26Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=43068782;refseq.start_2=43068782;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr1 43081029 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.967T>C;refseq.codingCoordStr_2=c.967T>C;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=43081029;refseq.end_2=43081029;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1237;refseq.mrnaCoord_2=1133;refseq.name2_1=ERMAP;refseq.name2_2=ERMAP;refseq.name_1=NM_001017922;refseq.name_2=NM_018538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S323P;refseq.proteinCoordStr_2=p.S323P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=255;refseq.spliceDist_2=255;refseq.start_1=43081029;refseq.start_2=43081029;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr1 43081031 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.969A>C;refseq.codingCoordStr_2=c.969A>C;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=43081031;refseq.end_2=43081031;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1239;refseq.mrnaCoord_2=1135;refseq.name2_1=ERMAP;refseq.name2_2=ERMAP;refseq.name_1=NM_001017922;refseq.name_2=NM_018538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S323S;refseq.proteinCoordStr_2=p.S323S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=257;refseq.spliceDist_2=257;refseq.start_1=43081031;refseq.start_2=43081031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr1 43405123 . C T 306.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.76;MQ0=0;OQ=6448.46;QD=19.90;RankSumP=0.165159;SB=-2722.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.833G>A;refseq.codingCoordStr_2=c.668G>A;refseq.codonCoord_1=278;refseq.codonCoord_2=223;refseq.end_1=43405123;refseq.end_2=43405123;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=865;refseq.name2_1=EBNA1BP2;refseq.name2_2=EBNA1BP2;refseq.name_1=NM_001159936;refseq.name_2=NM_006824;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R278H;refseq.proteinCoordStr_2=p.R223H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=43405123;refseq.start_2=43405123;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr1 43409071 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=751;Dels=0.00;HRun=1;HaplotypeScore=16.80;MQ=98.85;MQ0=0;OQ=17876.47;QD=23.80;RankSumP=0.181376;SB=-6222.08;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.555G>C;refseq.codingCoordStr_2=c.390G>C;refseq.codonCoord_1=185;refseq.codonCoord_2=130;refseq.end_1=43409071;refseq.end_2=43409071;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=704;refseq.mrnaCoord_2=587;refseq.name2_1=EBNA1BP2;refseq.name2_2=EBNA1BP2;refseq.name_1=NM_001159936;refseq.name_2=NM_006824;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T185T;refseq.proteinCoordStr_2=p.T130T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=43409071;refseq.start_2=43409071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr1 43411044 . T A 105.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=98.86;MQ0=0;OQ=1774.40;QD=11.67;RankSumP=0.396383;SB=-885.87;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.33T>A;refseq.codingCoordStr_3=c.33T>A;refseq.codingCoordStr_4=c.33T>A;refseq.codonCoord_2=11;refseq.codonCoord_3=11;refseq.codonCoord_4=11;refseq.end_1=43411044;refseq.end_2=43411044;refseq.end_3=43411044;refseq.end_4=43411044;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=176;refseq.mrnaCoord_2=176;refseq.mrnaCoord_3=111;refseq.mrnaCoord_4=179;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.V11V;refseq.proteinCoordStr_3=p.V11V;refseq.proteinCoordStr_4=p.V11V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=55;refseq.start_1=43411044;refseq.start_2=43411044;refseq.start_3=43411044;refseq.start_4=43411044;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 1/0 chr1 43420046 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.412T>G;refseq.codingCoordStr_3=c.412T>G;refseq.codingCoordStr_4=c.412T>G;refseq.codonCoord_2=138;refseq.codonCoord_3=138;refseq.codonCoord_4=138;refseq.end_1=43420046;refseq.end_2=43420046;refseq.end_3=43420046;refseq.end_4=43420046;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=646;refseq.mrnaCoord_2=555;refseq.mrnaCoord_3=490;refseq.mrnaCoord_4=558;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.W138G;refseq.proteinCoordStr_3=p.W138G;refseq.proteinCoordStr_4=p.W138G;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.spliceDist_4=-63;refseq.start_1=43420046;refseq.start_2=43420046;refseq.start_3=43420046;refseq.start_4=43420046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr1 43420050 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.416A>G;refseq.codingCoordStr_3=c.416A>G;refseq.codingCoordStr_4=c.416A>G;refseq.codonCoord_2=139;refseq.codonCoord_3=139;refseq.codonCoord_4=139;refseq.end_1=43420050;refseq.end_2=43420050;refseq.end_3=43420050;refseq.end_4=43420050;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=650;refseq.mrnaCoord_2=559;refseq.mrnaCoord_3=494;refseq.mrnaCoord_4=562;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.E139G;refseq.proteinCoordStr_3=p.E139G;refseq.proteinCoordStr_4=p.E139G;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.spliceDist_4=-59;refseq.start_1=43420050;refseq.start_2=43420050;refseq.start_3=43420050;refseq.start_4=43420050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=FilteredInAll GT 0/1 chr1 43422095 . A G 281.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.80;MQ0=0;OQ=2092.49;QD=19.37;RankSumP=0.227890;SB=-726.63;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.721A>G;refseq.codingCoordStr_3=c.721A>G;refseq.codingCoordStr_4=c.721A>G;refseq.codonCoord_2=241;refseq.codonCoord_3=241;refseq.codonCoord_4=241;refseq.end_1=43422095;refseq.end_2=43422095;refseq.end_3=43422095;refseq.end_4=43422095;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=864;refseq.mrnaCoord_3=799;refseq.mrnaCoord_4=867;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.N241D;refseq.proteinCoordStr_3=p.N241D;refseq.proteinCoordStr_4=p.N241D;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.spliceDist_4=-41;refseq.start_1=43422095;refseq.start_2=43422095;refseq.start_3=43422095;refseq.start_4=43422095;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 0/1 chr1 43436805 . C T 113.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=2;HaplotypeScore=4.32;MQ=98.42;MQ0=0;OQ=6111.63;QD=19.46;RankSumP=0.345126;SB=-2575.27;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.1329C>T;refseq.codingCoordStr_3=c.1329C>T;refseq.codingCoordStr_4=c.1329C>T;refseq.codonCoord_2=443;refseq.codonCoord_3=443;refseq.codonCoord_4=443;refseq.end_1=43436805;refseq.end_2=43436805;refseq.end_3=43436805;refseq.end_4=43436805;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1563;refseq.mrnaCoord_2=1472;refseq.mrnaCoord_3=1407;refseq.mrnaCoord_4=1475;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.H443H;refseq.proteinCoordStr_3=p.H443H;refseq.proteinCoordStr_4=p.H443H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.spliceDist_4=67;refseq.start_1=43436805;refseq.start_2=43436805;refseq.start_3=43436805;refseq.start_4=43436805;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 0/1 chr1 43448054 . G A 303.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=98.56;MQ0=0;OQ=14875.15;QD=41.67;RankSumP=1.00000;SB=-5126.80;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.1809G>A;refseq.codingCoordStr_3=c.1809G>A;refseq.codingCoordStr_4=c.1809G>A;refseq.codonCoord_2=603;refseq.codonCoord_3=603;refseq.codonCoord_4=603;refseq.end_1=43448054;refseq.end_2=43448054;refseq.end_3=43448054;refseq.end_4=43448054;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2043;refseq.mrnaCoord_2=1952;refseq.mrnaCoord_3=1887;refseq.mrnaCoord_4=1955;refseq.name2_1=WDR65;refseq.name2_2=WDR65;refseq.name2_3=WDR65;refseq.name2_4=WDR65;refseq.name_1=NR_030778;refseq.name_2=NM_001167965;refseq.name_3=NM_001167966;refseq.name_4=NM_152498;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S603S;refseq.proteinCoordStr_3=p.S603S;refseq.proteinCoordStr_4=p.S603S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.start_1=43448054;refseq.start_2=43448054;refseq.start_3=43448054;refseq.start_4=43448054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 1/1 chr1 43552151 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=7.28;MQ=97.93;MQ0=0;OQ=817.95;QD=9.74;RankSumP=0.0860249;SB=-206.53;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2334T>C;refseq.codonCoord=778;refseq.end=43552151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2413;refseq.name=NM_005424;refseq.name2=TIE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A778A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-76;refseq.start=43552151;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr1 43557543 . A G 212.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.35;MQ0=0;OQ=2881.86;QD=14.63;RankSumP=0.00202129;SB=-1402.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2973A>G;refseq.codonCoord=991;refseq.end=43557543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3052;refseq.name=NM_005424;refseq.name2=TIE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L991L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=51;refseq.start=43557543;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 0/1 chr1 43598231 . T C 225.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=97.00;MQ0=0;OQ=2356.83;QD=17.99;RankSumP=0.404938;SB=-1018.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=43598231;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_001255;refseq.name2=CDC20;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y144Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=43598231;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr1 43598289 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.490A>C;refseq.codonCoord=164;refseq.end=43598289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_001255;refseq.name2=CDC20;refseq.positionType=CDS;refseq.proteinCoordStr=p.T164P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=63;refseq.start=43598289;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 43679483 . A G 289.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.63;MQ0=0;OQ=1839.24;QD=17.69;RankSumP=0.444385;SB=-895.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4659A>G;refseq.codonCoord=1553;refseq.end=43679483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5121;refseq.name=NM_015284;refseq.name2=KIAA0467;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1553E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=12;refseq.start=43679483;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr1 43690224 . G A 360.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.85;MQ0=0;OQ=4236.87;QD=18.91;RankSumP=0.0213665;SB=-1612.48;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.474C>T;refseq.codingCoordStr_2=c.*1486G>A;refseq.codingCoordStr_3=c.474C>T;refseq.codonCoord_1=158;refseq.codonCoord_3=158;refseq.end_1=43690224;refseq.end_2=43690224;refseq.end_3=43690224;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=670;refseq.mrnaCoord_2=9550;refseq.mrnaCoord_3=670;refseq.name2_1=HYI;refseq.name2_2=KIAA0467;refseq.name2_3=HYI;refseq.name_1=NM_001174052;refseq.name_2=NM_015284;refseq.name_3=NM_031207;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D158D;refseq.proteinCoordStr_3=p.D158D;refseq.referenceAA_1=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-668;refseq.spliceDist_3=-32;refseq.start_1=43690224;refseq.start_2=43690224;refseq.start_3=43690224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr1 43843808 . G A 391.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.93;MQ0=0;OQ=7826.60;QD=38.75;RankSumP=1.00000;SB=-2130.33;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3411G>A;refseq.codingCoordStr_2=c.3384G>A;refseq.codonCoord_1=1137;refseq.codonCoord_2=1128;refseq.end_1=43843808;refseq.end_2=43843808;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3751;refseq.mrnaCoord_2=3724;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1137V;refseq.proteinCoordStr_2=p.V1128V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=43843808;refseq.start_2=43843808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr1 43856094 . T C 135.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.53;MQ0=0;OQ=1184.13;QD=31.16;RankSumP=1.00000;SB=-243.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4296T>C;refseq.codingCoordStr_2=c.4269T>C;refseq.codonCoord_1=1432;refseq.codonCoord_2=1423;refseq.end_1=43856094;refseq.end_2=43856094;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4636;refseq.mrnaCoord_2=4609;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1432G;refseq.proteinCoordStr_2=p.G1423G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=43856094;refseq.start_2=43856094;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 43856106 . G A 94.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=97.80;MQ0=0;OQ=1191.70;QD=35.05;RankSumP=1.00000;SB=-179.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4308G>A;refseq.codingCoordStr_2=c.4281G>A;refseq.codonCoord_1=1436;refseq.codonCoord_2=1427;refseq.end_1=43856106;refseq.end_2=43856106;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4648;refseq.mrnaCoord_2=4621;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1436R;refseq.proteinCoordStr_2=p.R1427R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=43856106;refseq.start_2=43856106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr1 43857326 . C T 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=31.28;MQ=97.21;MQ0=0;OQ=10581.17;QD=31.59;RankSumP=1.00000;SB=-3302.48;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4512C>T;refseq.codingCoordStr_2=c.4485C>T;refseq.codonCoord_1=1504;refseq.codonCoord_2=1495;refseq.end_1=43857326;refseq.end_2=43857326;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4852;refseq.mrnaCoord_2=4825;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1504R;refseq.proteinCoordStr_2=p.R1495R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=43857326;refseq.start_2=43857326;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr1 43858017 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5012T>G;refseq.codingCoordStr_2=c.4985T>G;refseq.codonCoord_1=1671;refseq.codonCoord_2=1662;refseq.end_1=43858017;refseq.end_2=43858017;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5352;refseq.mrnaCoord_2=5325;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1671G;refseq.proteinCoordStr_2=p.V1662G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=43858017;refseq.start_2=43858017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 43859418 . C T 448.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.55;MQ0=0;OQ=6127.85;QD=39.79;RankSumP=1.00000;SB=-2926.82;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5583C>T;refseq.codingCoordStr_2=c.5556C>T;refseq.codonCoord_1=1861;refseq.codonCoord_2=1852;refseq.end_1=43859418;refseq.end_2=43859418;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5923;refseq.mrnaCoord_2=5896;refseq.name2_1=PTPRF;refseq.name2_2=PTPRF;refseq.name_1=NM_002840;refseq.name_2=NM_130440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1861Y;refseq.proteinCoordStr_2=p.Y1852Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=43859418;refseq.start_2=43859418;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr1 43909844 . C A 261.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.98;MQ0=0;OQ=9476.28;QD=38.68;RankSumP=1.00000;SB=-4326.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1445C>A;refseq.codonCoord=482;refseq.end=43909844;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1611;refseq.name=NM_014663;refseq.name2=KDM4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A482E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=82;refseq.start=43909844;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 44063117 . A G 149.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=111.84;QD=18.64;RankSumP=0.666667;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_10=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr1;refseq.chr_10=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.chr_9=chr1;refseq.codingCoordStr_10=c.289A>G;refseq.codingCoordStr_8=c.382A>G;refseq.codingCoordStr_9=c.337A>G;refseq.codonCoord_10=97;refseq.codonCoord_8=128;refseq.codonCoord_9=113;refseq.end_1=44076467;refseq.end_10=44063117;refseq.end_2=44076467;refseq.end_3=44076467;refseq.end_4=44076467;refseq.end_5=44076467;refseq.end_6=44076467;refseq.end_7=44076467;refseq.end_8=44063117;refseq.end_9=44063117;refseq.frame_10=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_10=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=A;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=466;refseq.mrnaCoord_8=559;refseq.mrnaCoord_9=514;refseq.name2_1=ST3GAL3;refseq.name2_10=ST3GAL3;refseq.name2_2=ST3GAL3;refseq.name2_3=ST3GAL3;refseq.name2_4=ST3GAL3;refseq.name2_5=ST3GAL3;refseq.name2_6=ST3GAL3;refseq.name2_7=ST3GAL3;refseq.name2_8=ST3GAL3;refseq.name2_9=ST3GAL3;refseq.name_1=NM_006279;refseq.name_10=NM_174971;refseq.name_2=NM_174964;refseq.name_3=NM_174965;refseq.name_4=NM_174966;refseq.name_5=NM_174967;refseq.name_6=NM_174969;refseq.name_7=NM_174970;refseq.name_8=NM_174963;refseq.name_9=NM_174968;refseq.numMatchingRecords=10;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.T97A;refseq.proteinCoordStr_8=p.T128A;refseq.proteinCoordStr_9=p.T113A;refseq.referenceAA_10=Thr;refseq.referenceAA_8=Thr;refseq.referenceAA_9=Thr;refseq.referenceCodon_10=ACA;refseq.referenceCodon_8=ACA;refseq.referenceCodon_9=ACA;refseq.spliceDist_10=-35;refseq.spliceDist_8=-35;refseq.spliceDist_9=-35;refseq.start_1=44053203;refseq.start_10=44063117;refseq.start_2=44053203;refseq.start_3=44053203;refseq.start_4=44053203;refseq.start_5=44053203;refseq.start_6=44053203;refseq.start_7=44053203;refseq.start_8=44063117;refseq.start_9=44063117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_10=GCA;refseq.variantCodon_8=GCA;refseq.variantCodon_9=GCA;set=Intersection GT 0/1 chr1 44173971 . A G 188.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=7.72;MQ=98.89;MQ0=0;OQ=4072.12;QD=38.42;RankSumP=1.00000;SB=-1130.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.56A>G;refseq.codingCoordStr_2=c.56A>G;refseq.codingCoordStr_3=c.56A>G;refseq.codingCoordStr_4=c.56A>G;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.codonCoord_3=19;refseq.codonCoord_4=19;refseq.end_1=44173971;refseq.end_2=44173971;refseq.end_3=44173971;refseq.end_4=44173971;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=689;refseq.mrnaCoord_2=354;refseq.mrnaCoord_3=838;refseq.mrnaCoord_4=838;refseq.name2_1=ARTN;refseq.name2_2=ARTN;refseq.name2_3=ARTN;refseq.name2_4=ARTN;refseq.name_1=NM_001136215;refseq.name_2=NM_003976;refseq.name_3=NM_057090;refseq.name_4=NM_057091;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q19R;refseq.proteinCoordStr_2=p.Q19R;refseq.proteinCoordStr_3=p.Q19R;refseq.proteinCoordStr_4=p.Q19R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceDist_4=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.spliceInfo_4=splice-donor_-5;refseq.start_1=44173971;refseq.start_2=44173971;refseq.start_3=44173971;refseq.start_4=44173971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr1 44188002 . C T 198.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=5.21;MQ=98.75;MQ0=0;OQ=8084.76;QD=39.63;RankSumP=1.00000;SB=-1497.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.411C>T;refseq.codonCoord=137;refseq.end=44188002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_014652;refseq.name2=IPO13;refseq.positionType=CDS;refseq.proteinCoordStr=p.D137D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=327;refseq.start=44188002;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 44208901 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=1.07982e-08;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.194T>G;refseq.codingCoordStr_2=c.194T>G;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=44208901;refseq.end_2=44208901;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=389;refseq.mrnaCoord_2=389;refseq.name2_1=DPH2;refseq.name2_2=DPH2;refseq.name_1=NM_001039589;refseq.name_2=NM_001384;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V65G;refseq.proteinCoordStr_2=p.V65G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=44208901;refseq.start_2=44208901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 44210179 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.262106;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1018G>A;refseq.codonCoord_2=340;refseq.end_1=44210406;refseq.end_2=44210179;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1213;refseq.name2_1=DPH2;refseq.name2_2=DPH2;refseq.name_1=NM_001039589;refseq.name_2=NM_001384;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A340T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-151;refseq.start_1=44209459;refseq.start_2=44210179;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr1 44367700 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=6.97;MQ=98.81;MQ0=0;OQ=7267.16;QD=27.42;RankSumP=0.193562;SB=-1426.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.170G>C;refseq.codonCoord=57;refseq.end=44367700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_173484;refseq.name2=KLF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=89;refseq.start=44367700;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 44367997 . A G 189.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.36;MQ0=0;OQ=1870.21;QD=15.46;RankSumP=0.413048;SB=-234.57;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.467A>G;refseq.codonCoord=156;refseq.end=44367997;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_173484;refseq.name2=KLF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N156S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=386;refseq.start=44367997;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 44368013 . G A 194.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=98.35;MQ0=0;OQ=2812.05;QD=19.39;RankSumP=0.00700147;SB=-765.33;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=44368013;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_173484;refseq.name2=KLF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S161S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=402;refseq.start=44368013;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/0 chr1 44368976 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.386320;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=44368976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_173484;refseq.name2=KLF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N377N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-40;refseq.start=44368976;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 0/1 chr1 44368977 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.377312;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1132A>G;refseq.codonCoord=378;refseq.end=44368977;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_173484;refseq.name2=KLF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N378D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-39;refseq.start=44368977;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr1 44883489 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1320T>C;refseq.codonCoord=440;refseq.end=44883489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1680;refseq.name=NM_018150;refseq.name2=RNF220;refseq.positionType=CDS;refseq.proteinCoordStr=p.P440P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=44883489;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 44991482 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=99.00;MQ0=0;OQ=1733.58;QD=11.63;RankSumP=0.317681;SB=-406.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.531A>T;refseq.codonCoord=177;refseq.end=44991482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_006845;refseq.name2=KIF2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R177R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-32;refseq.start=44991482;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 44997585 . A C 370.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=6.40;MQ=98.79;MQ0=0;OQ=4540.01;QD=19.24;RankSumP=0.0918535;SB=-1900.29;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1345A>C;refseq.codonCoord=449;refseq.end=44997585;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_006845;refseq.name2=KIF2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I449L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-23;refseq.start=44997585;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 44998671 . G A 319.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=97.89;MQ0=0;OQ=2765.36;QD=20.33;RankSumP=0.443929;SB=-1148.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1500G>A;refseq.codonCoord=500;refseq.end=44998671;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_006845;refseq.name2=KIF2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A500A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-73;refseq.start=44998671;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 45022594 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1297G>T;refseq.codonCoord=433;refseq.end=45022594;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1346;refseq.name=NM_153274;refseq.name2=BEST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V433L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=149;refseq.start=45022594;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/1 chr1 45041920 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.17;MQ0=0;OQ=1629.41;QD=14.68;RankSumP=0.361880;SB=-293.32;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1134A>G;refseq.codonCoord=378;refseq.end=45041920;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1234;refseq.name=NM_004073;refseq.name2=PLK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T378T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-31;refseq.start=45041920;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr1 45042611 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=3;HaplotypeScore=5.59;MQ=98.52;MQ0=0;OQ=1145.44;QD=13.17;RankSumP=0.0203857;SB=-472.27;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1356G>C;refseq.codonCoord=452;refseq.end=45042611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1456;refseq.name=NM_004073;refseq.name2=PLK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P452P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=14;refseq.start=45042611;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr1 45044415 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=245.42;QD=15.34;RankSumP=0.643151;SB=-34.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.513A>G;refseq.codonCoord=171;refseq.end=45044415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_001013632;refseq.name2=TCTEX1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V171V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-243;refseq.start=45044415;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 45065453 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=98.14;MQ0=0;OQ=582.37;QD=12.13;RankSumP=0.300655;SB=-152.15;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2487C>T;refseq.codingCoordStr_2=c.2487C>T;refseq.codonCoord_1=829;refseq.codonCoord_2=829;refseq.end_1=45065453;refseq.end_2=45065453;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2499;refseq.mrnaCoord_2=2499;refseq.name2_1=PTCH2;refseq.name2_2=PTCH2;refseq.name_1=NM_001166292;refseq.name_2=NM_003738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D829D;refseq.proteinCoordStr_2=p.D829D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=45065453;refseq.start_2=45065453;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr1 45066105 . A G 275.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=4606.62;QD=41.13;RankSumP=1.00000;SB=-767.97;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2055T>C;refseq.codingCoordStr_2=c.2055T>C;refseq.codonCoord_1=685;refseq.codonCoord_2=685;refseq.end_1=45066105;refseq.end_2=45066105;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2067;refseq.mrnaCoord_2=2067;refseq.name2_1=PTCH2;refseq.name2_2=PTCH2;refseq.name_1=NM_001166292;refseq.name_2=NM_003738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A685A;refseq.proteinCoordStr_2=p.A685A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=45066105;refseq.start_2=45066105;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 45066130 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0767741;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2030C>T;refseq.codingCoordStr_2=c.2030C>T;refseq.codonCoord_1=677;refseq.codonCoord_2=677;refseq.end_1=45066130;refseq.end_2=45066130;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2042;refseq.mrnaCoord_2=2042;refseq.name2_1=PTCH2;refseq.name2_2=PTCH2;refseq.name_1=NM_001166292;refseq.name_2=NM_003738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A677V;refseq.proteinCoordStr_2=p.A677V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=45066130;refseq.start_2=45066130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr1 45066339 . T C 144.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.50;MQ0=0;OQ=1833.73;QD=14.00;RankSumP=0.0568304;SB=-795.67;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1821A>G;refseq.codingCoordStr_2=c.1821A>G;refseq.codonCoord_1=607;refseq.codonCoord_2=607;refseq.end_1=45066339;refseq.end_2=45066339;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1833;refseq.mrnaCoord_2=1833;refseq.name2_1=PTCH2;refseq.name2_2=PTCH2;refseq.name_1=NM_001166292;refseq.name_2=NM_003738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E607E;refseq.proteinCoordStr_2=p.E607E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.start_1=45066339;refseq.start_2=45066339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr1 45216625 . G A 296.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.84;MQ0=0;OQ=3961.09;QD=21.41;RankSumP=0.268002;SB=-1604.26;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.243C>T;refseq.codingCoordStr_2=c.243C>T;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.end_1=45216625;refseq.end_2=45216625;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=449;refseq.name2_1=EIF2B3;refseq.name2_2=EIF2B3;refseq.name_1=NM_001166588;refseq.name_2=NM_020365;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D81D;refseq.proteinCoordStr_2=p.D81D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=45216625;refseq.start_2=45216625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr1 45241763 . A T 217.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=14.28;MQ=98.44;MQ0=0;OQ=6626.63;QD=18.77;RankSumP=0.000140198;SB=-2064.08;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2574T>A;refseq.codonCoord=858;refseq.end=45241763;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2672;refseq.name=NM_024602;refseq.name2=HECTD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P858P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=73;refseq.start=45241763;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 0/1 chr1 45242173 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=65;Dels=0.00;HRun=3;HaplotypeScore=5.00;MQ=97.67;MQ0=0;OQ=813.25;QD=12.51;RankSumP=0.271960;SB=-410.16;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2370C>T;refseq.codonCoord=790;refseq.end=45242173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2468;refseq.name=NM_024602;refseq.name2=HECTD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R790R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=23;refseq.start=45242173;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 45249250 . G A 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.34;MQ=98.21;MQ0=0;OQ=218.94;QD=18.25;RankSumP=0.681818;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.267C>T;refseq.codonCoord=89;refseq.end=45249250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_024602;refseq.name2=HECTD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L89L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-103;refseq.start=45249250;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr1 45252296 . A G 281.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=10.79;MQ=98.40;MQ0=0;OQ=6325.57;QD=15.93;RankSumP=0.178665;SB=-2485.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=45252296;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_000374;refseq.name2=UROD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P201P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-34;refseq.start=45252296;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr1 45252323 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.630T>G;refseq.codonCoord=210;refseq.end=45252323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_000374;refseq.name2=UROD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G210G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=45252323;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 45257164 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3107A>C;refseq.codonCoord=1036;refseq.end=45257164;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3335;refseq.name=NM_020883;refseq.name2=ZSWIM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1036P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=412;refseq.start=45257164;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 45257495 . T G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.500000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2776A>C;refseq.codonCoord=926;refseq.end=45257495;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3004;refseq.name=NM_020883;refseq.name2=ZSWIM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T926P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=81;refseq.start=45257495;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr1 45444553 . A G 112.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=98.03;MQ0=0;OQ=605.99;QD=35.65;RankSumP=1.00000;SB=-299.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=45444553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_020883;refseq.name2=ZSWIM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A19A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=285;refseq.start=45444553;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 45570092 . C G 129.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=318.53;QD=15.17;RankSumP=0.669608;SB=-128.70;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.972G>C;refseq.codingCoordStr_2=c.933G>C;refseq.codingCoordStr_3=c.930G>C;refseq.codingCoordStr_4=c.930G>C;refseq.codingCoordStr_5=c.1014G>C;refseq.codingCoordStr_6=c.1005G>C;refseq.codonCoord_1=324;refseq.codonCoord_2=311;refseq.codonCoord_3=310;refseq.codonCoord_4=310;refseq.codonCoord_5=338;refseq.codonCoord_6=335;refseq.end_1=45570092;refseq.end_2=45570092;refseq.end_3=45570092;refseq.end_4=45570092;refseq.end_5=45570092;refseq.end_6=45570092;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1188;refseq.mrnaCoord_2=1079;refseq.mrnaCoord_3=1076;refseq.mrnaCoord_4=995;refseq.mrnaCoord_5=1230;refseq.mrnaCoord_6=1221;refseq.name2_1=MUTYH;refseq.name2_2=MUTYH;refseq.name2_3=MUTYH;refseq.name2_4=MUTYH;refseq.name2_5=MUTYH;refseq.name2_6=MUTYH;refseq.name_1=NM_001048171;refseq.name_2=NM_001048172;refseq.name_3=NM_001048173;refseq.name_4=NM_001048174;refseq.name_5=NM_001128425;refseq.name_6=NM_012222;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Q324H;refseq.proteinCoordStr_2=p.Q311H;refseq.proteinCoordStr_3=p.Q310H;refseq.proteinCoordStr_4=p.Q310H;refseq.proteinCoordStr_5=p.Q338H;refseq.proteinCoordStr_6=p.Q335H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.spliceDist_5=17;refseq.spliceDist_6=17;refseq.start_1=45570092;refseq.start_2=45570092;refseq.start_3=45570092;refseq.start_4=45570092;refseq.start_5=45570092;refseq.start_6=45570092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;set=Intersection GT 1/0 chr1 45581353 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.925T>G;refseq.codonCoord=309;refseq.end=45581353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_025077;refseq.name2=TOE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C309G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=13;refseq.start=45581353;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 45845665 . G C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.447801;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.495G>C;refseq.codingCoordStr_3=c.501G>C;refseq.codonCoord_2=165;refseq.codonCoord_3=167;refseq.end_1=45851417;refseq.end_2=45845665;refseq.end_3=45845665;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=597;refseq.mrnaCoord_3=670;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L165F;refseq.proteinCoordStr_3=p.L167F;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_2=86;refseq.spliceDist_3=86;refseq.start_1=45844861;refseq.start_2=45845665;refseq.start_3=45845665;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=soap GT 0/1 chr1 45845696 . A T 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.223751;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.526A>T;refseq.codingCoordStr_3=c.532A>T;refseq.codonCoord_2=176;refseq.codonCoord_3=178;refseq.end_1=45851417;refseq.end_2=45845696;refseq.end_3=45845696;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=628;refseq.mrnaCoord_3=701;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S176C;refseq.proteinCoordStr_3=p.S178C;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_2=117;refseq.spliceDist_3=117;refseq.start_1=45844861;refseq.start_2=45845696;refseq.start_3=45845696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=soap GT 0/1 chr1 45845738 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.394788;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.568A>G;refseq.codingCoordStr_3=c.574A>G;refseq.codonCoord_2=190;refseq.codonCoord_3=192;refseq.end_1=45851417;refseq.end_2=45845738;refseq.end_3=45845738;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=670;refseq.mrnaCoord_3=743;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.K190E;refseq.proteinCoordStr_3=p.K192E;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_2=159;refseq.spliceDist_3=159;refseq.start_1=45844861;refseq.start_2=45845738;refseq.start_3=45845738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 0/1 chr1 45845886 . C T 20.76 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=80.26;MQ0=0;QD=0.90;SB=-30.94;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.716C>T;refseq.codingCoordStr_3=c.722C>T;refseq.codonCoord_2=239;refseq.codonCoord_3=241;refseq.end_1=45851417;refseq.end_2=45845886;refseq.end_3=45845886;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=818;refseq.mrnaCoord_3=891;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A239V;refseq.proteinCoordStr_3=p.A241V;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_2=307;refseq.spliceDist_3=307;refseq.start_1=45844861;refseq.start_2=45845886;refseq.start_3=45845886;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:19,4:22:-11.98,-6.62,-75.28:53.56 chr1 45846284 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=82.56;MQ0=1;OQ=115.02;QD=1.01;SB=25.82;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.1114C>A;refseq.codingCoordStr_3=c.1120C>A;refseq.codonCoord_2=372;refseq.codonCoord_3=374;refseq.end_1=45851417;refseq.end_2=45846284;refseq.end_3=45846284;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1216;refseq.mrnaCoord_3=1289;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P372T;refseq.proteinCoordStr_3=p.P374T;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_2=-313;refseq.spliceDist_3=-313;refseq.start_1=45844861;refseq.start_2=45846284;refseq.start_3=45846284;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:99,15:99:-44.60,-29.81,-349.29:99 chr1 45846415 . G A 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.185094;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.1245G>A;refseq.codingCoordStr_3=c.1251G>A;refseq.codonCoord_2=415;refseq.codonCoord_3=417;refseq.end_1=45851417;refseq.end_2=45846415;refseq.end_3=45846415;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1347;refseq.mrnaCoord_3=1420;refseq.name2_1=NASP;refseq.name2_2=NASP;refseq.name2_3=NASP;refseq.name_1=NM_152298;refseq.name_2=NM_002482;refseq.name_3=NM_172164;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R415R;refseq.proteinCoordStr_3=p.R417R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_2=-182;refseq.spliceDist_3=-182;refseq.start_1=45844861;refseq.start_2=45846415;refseq.start_3=45846415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=soap GT 1/0 chr1 45866614 . A G 99.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=372;Dels=0.00;HRun=1;HaplotypeScore=10.26;MQ=98.76;MQ0=0;OQ=12904.39;QD=34.69;RankSumP=1.00000;SB=-4745.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1326T>C;refseq.codonCoord=442;refseq.end=45866614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2687;refseq.name=NM_021639;refseq.name2=GPBP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S442S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=54;refseq.start=45866614;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 45867859 . T C 130.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=98.73;MQ0=0;OQ=20751.54;QD=41.34;RankSumP=1.00000;SB=-7192.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1248A>G;refseq.codonCoord=416;refseq.end=45867859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2609;refseq.name=NM_021639;refseq.name2=GPBP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K416K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-25;refseq.start=45867859;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 45967962 . T C 231.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=98.78;MQ0=0;OQ=4309.69;QD=43.10;RankSumP=1.00000;SB=-852.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.791A>G;refseq.codingCoordStr_2=c.791A>G;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=45967962;refseq.end_2=45967962;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=1058;refseq.name2_1=IPP;refseq.name2_2=IPP;refseq.name_1=NM_001145349;refseq.name_2=NM_005897;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K264R;refseq.proteinCoordStr_2=p.K264R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=45967962;refseq.start_2=45967962;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr1 45984510 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.161T>G;refseq.codingCoordStr_2=c.161T>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=45984510;refseq.end_2=45984510;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=428;refseq.mrnaCoord_2=428;refseq.name2_1=IPP;refseq.name2_2=IPP;refseq.name_1=NM_001145349;refseq.name_2=NM_005897;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V54G;refseq.proteinCoordStr_2=p.V54G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-132;refseq.spliceDist_2=-132;refseq.start_1=45984510;refseq.start_2=45984510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr1 46249174 . T G 385.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.65;MQ0=0;OQ=10181.23;QD=41.73;RankSumP=1.00000;SB=-3858.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1164T>G;refseq.codonCoord=388;refseq.end=46249174;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1447;refseq.name=NM_015112;refseq.name2=MAST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D388E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-25;refseq.start=46249174;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 46272387 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3730A>C;refseq.codonCoord=1244;refseq.end=46272387;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4013;refseq.name=NM_015112;refseq.name2=MAST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1244P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=56;refseq.start=46272387;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 46273962 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5034T>G;refseq.codonCoord=1678;refseq.end=46273962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5317;refseq.name=NM_015112;refseq.name2=MAST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1678G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-422;refseq.start=46273962;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 46294063 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=2.74649e-05;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.932A>T;refseq.codingCoordStr_2=c.932A>T;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=46294063;refseq.end_2=46294063;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1189;refseq.mrnaCoord_2=1688;refseq.name2_1=PIK3R3;refseq.name2_2=PIK3R3;refseq.name_1=NM_001114172;refseq.name_2=NM_003629;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q311L;refseq.proteinCoordStr_2=p.Q311L;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=46294063;refseq.start_2=46294063;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT 1/0 chr1 46423324 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.544A>C;refseq.codonCoord=182;refseq.end=46423324;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_005727;refseq.name2=TSPAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T182P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-51;refseq.start=46423324;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 46427745 . T C 314.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.40;MQ0=0;OQ=3212.42;QD=39.66;RankSumP=1.00000;SB=-1557.59;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1867A>G;refseq.codonCoord_2=623;refseq.end_1=46427745;refseq.end_2=46427745;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2518;refseq.mrnaCoord_2=2031;refseq.name2_1=POMGNT1;refseq.name2_2=POMGNT1;refseq.name_1=NR_024332;refseq.name_2=NM_017739;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M623V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-3;refseq.spliceDist_2=-29;refseq.spliceInfo_1=splice-donor_-3;refseq.start_1=46427745;refseq.start_2=46427745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr1 46432882 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=24.94;MQ=98.94;MQ0=0;OQ=16667.97;QD=39.97;RankSumP=1.00000;SB=-5650.31;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.681A>G;refseq.codonCoord_2=227;refseq.end_1=46432882;refseq.end_2=46432882;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1332;refseq.mrnaCoord_2=845;refseq.name2_1=POMGNT1;refseq.name2_2=POMGNT1;refseq.name_1=NR_024332;refseq.name_2=NM_017739;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K227K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=46432882;refseq.start_2=46432882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 46524165 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=25;Dels=0.00;HRun=2;HaplotypeScore=17.69;MQ=96.49;MQ0=0;OQ=82.03;QD=3.28;RankSumP=0.501357;SB=11.06;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.951A>C;refseq.codonCoord=317;refseq.end=46524165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_006369;refseq.name2=LRRC41;refseq.positionType=CDS;refseq.proteinCoordStr=p.A317A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-545;refseq.start=46524165;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr1 46524167 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.500138;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.949G>C;refseq.codonCoord=317;refseq.end=46524167;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_006369;refseq.name2=LRRC41;refseq.positionType=CDS;refseq.proteinCoordStr=p.A317P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-547;refseq.start=46524167;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 46579093 . C G 37 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.000368367;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8C>G;refseq.codonCoord=3;refseq.end=46579093;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_199044;refseq.name2=NSUN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-86;refseq.start=46579093;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 46585330 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.588T>G;refseq.codonCoord=196;refseq.end=46585330;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_199044;refseq.name2=NSUN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C196W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=46585330;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 46643348 . C A 215.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=11.87;MQ=98.73;MQ0=0;OQ=14170.57;QD=37.29;RankSumP=1.00000;SB=-7035.63;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.385C>A;refseq.codonCoord=129;refseq.end=46643348;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_001441;refseq.name2=FAAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.P129T;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-60;refseq.start=46643348;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 46644573 . T C 322.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.73;MQ0=0;OQ=3050.11;QD=33.52;RankSumP=1.00000;SB=-1131.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.897T>C;refseq.codonCoord=299;refseq.end=46644573;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_001441;refseq.name2=FAAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.C299C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-55;refseq.start=46644573;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr1 46749304 . C T 282.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=1432.57;QD=39.79;RankSumP=1.00000;SB=-741.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.459C>T;refseq.codingCoordStr_2=c.444C>T;refseq.codonCoord_1=153;refseq.codonCoord_2=148;refseq.end_1=46749304;refseq.end_2=46749304;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=474;refseq.mrnaCoord_2=459;refseq.name2_1=DMBX1;refseq.name2_2=DMBX1;refseq.name_1=NM_147192;refseq.name_2=NM_172225;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A153A;refseq.proteinCoordStr_2=p.A148A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.start_1=46749304;refseq.start_2=46749304;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr1 46851224 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=94.29;MQ0=0;OQ=1658.93;QD=30.72;RankSumP=1.00000;SB=-371.57;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.513A>G;refseq.codingCoordStr_2=c.357A>G;refseq.codonCoord_1=171;refseq.codonCoord_2=119;refseq.end_1=46851224;refseq.end_2=46851224;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=570;refseq.mrnaCoord_2=588;refseq.name2_1=MOBKL2C;refseq.name2_2=MOBKL2C;refseq.name_1=NM_145279;refseq.name_2=NM_201403;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A171A;refseq.proteinCoordStr_2=p.A119A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=46851224;refseq.start_2=46851224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr1 46853252 . C T 437.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.75;MQ0=0;OQ=7296.88;QD=41.70;RankSumP=1.00000;SB=-1795.71;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.84G>A;refseq.codonCoord_2=28;refseq.end_1=46854959;refseq.end_2=46853252;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=141;refseq.name2_1=MOBKL2C;refseq.name2_2=MOBKL2C;refseq.name_1=NM_201403;refseq.name_2=NM_145279;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M28I;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-23;refseq.start_1=46851641;refseq.start_2=46853252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr1 46853266 . G A 335.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=98.79;MQ0=0;OQ=8857.37;QD=42.58;RankSumP=1.00000;SB=-3120.44;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.70C>T;refseq.codonCoord_2=24;refseq.end_1=46854959;refseq.end_2=46853266;refseq.frame_2=0;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=127;refseq.name2_1=MOBKL2C;refseq.name2_2=MOBKL2C;refseq.name_1=NM_201403;refseq.name_2=NM_145279;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R24*;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGA;refseq.spliceDist_2=-37;refseq.start_1=46851641;refseq.start_2=46853266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Stop;refseq.variantCodon_2=TGA;set=Intersection GT 1/1 chr1 46853328 . C T 435.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.74;MQ0=0;OQ=7315.54;QD=42.29;RankSumP=1.00000;SB=-2211.40;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.8G>A;refseq.codonCoord_2=3;refseq.end_1=46854959;refseq.end_2=46853328;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=65;refseq.name2_1=MOBKL2C;refseq.name2_2=MOBKL2C;refseq.name_1=NM_201403;refseq.name_2=NM_145279;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R3H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=65;refseq.start_1=46851641;refseq.start_2=46853328;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr1 47053334 . A G 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.881A>G;refseq.codingCoordStr_2=c.884A>G;refseq.codonCoord_1=294;refseq.codonCoord_2=295;refseq.end_1=47053334;refseq.end_2=47053334;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=965;refseq.mrnaCoord_2=968;refseq.name2_1=CYP4B1;refseq.name2_2=CYP4B1;refseq.name_1=NM_000779;refseq.name_2=NM_001099772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D294G;refseq.proteinCoordStr_2=p.D295G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=47053334;refseq.start_2=47053334;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/1 chr1 47053335 . T G 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.882T>G;refseq.codingCoordStr_2=c.885T>G;refseq.codonCoord_1=294;refseq.codonCoord_2=295;refseq.end_1=47053335;refseq.end_2=47053335;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=966;refseq.mrnaCoord_2=969;refseq.name2_1=CYP4B1;refseq.name2_2=CYP4B1;refseq.name_1=NM_000779;refseq.name_2=NM_001099772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D294E;refseq.proteinCoordStr_2=p.D295E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=47053335;refseq.start_2=47053335;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT 1/1 chr1 47053446 . G A 144.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=15.55;MQ=95.78;MQ0=0;OQ=10836.36;QD=41.20;RankSumP=1.00000;SB=-5004.50;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.993G>A;refseq.codingCoordStr_2=c.996G>A;refseq.codonCoord_1=331;refseq.codonCoord_2=332;refseq.end_1=47053446;refseq.end_2=47053446;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1077;refseq.mrnaCoord_2=1080;refseq.name2_1=CYP4B1;refseq.name2_2=CYP4B1;refseq.name_1=NM_000779;refseq.name_2=NM_001099772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M331I;refseq.proteinCoordStr_2=p.M332I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.start_1=47053446;refseq.start_2=47053446;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr1 47053471 . C T 324.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=3.62;MQ=97.08;MQ0=0;OQ=10266.62;QD=42.25;RankSumP=1.00000;SB=-4408.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1018C>T;refseq.codingCoordStr_2=c.1021C>T;refseq.codonCoord_1=340;refseq.codonCoord_2=341;refseq.end_1=47053471;refseq.end_2=47053471;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1102;refseq.mrnaCoord_2=1105;refseq.name2_1=CYP4B1;refseq.name2_2=CYP4B1;refseq.name_1=NM_000779;refseq.name_2=NM_001099772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R340C;refseq.proteinCoordStr_2=p.R341C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=47053471;refseq.start_2=47053471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr1 47055359 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=42.37;MQ=98.43;MQ0=0;OQ=14295.24;QD=32.05;RankSumP=1.00000;SB=-6909.72;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1123C>T;refseq.codingCoordStr_2=c.1126C>T;refseq.codonCoord_1=375;refseq.codonCoord_2=376;refseq.end_1=47055359;refseq.end_2=47055359;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1207;refseq.mrnaCoord_2=1210;refseq.name2_1=CYP4B1;refseq.name2_2=CYP4B1;refseq.name_1=NM_000779;refseq.name_2=NM_001099772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R375C;refseq.proteinCoordStr_2=p.R376C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=47055359;refseq.start_2=47055359;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr1 47168560 . G A 183.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=475;Dels=0.00;HRun=1;HaplotypeScore=5.89;MQ=73.78;MQ0=0;OQ=8601.59;QD=18.11;RankSumP=0.255918;SB=-1726.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1374C>T;refseq.codonCoord=458;refseq.end=47168560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_000778;refseq.name2=CYP4A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I458I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=47168560;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 47172554 . G A 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=40.70;MQ=14.90;MQ0=372;QD=0.08;RankSumP=0.773810;SB=-10.00;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.969C>T;refseq.codonCoord=323;refseq.end=47172554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_000778;refseq.name2=CYP4A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.H323H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=72;refseq.start=47172554;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 1/0 chr1 47344489 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=337;Dels=0.00;HRun=1;HaplotypeScore=13.50;MQ=61.00;MQ0=84;OQ=1678.37;QD=4.98;RankSumP=0.101297;SB=-556.25;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1170C>T;refseq.codonCoord=390;refseq.end=47344489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1173;refseq.name=NM_178134;refseq.name2=CYP4Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I390I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-32;refseq.start=47344489;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 47344492 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=323;Dels=0.00;HRun=3;HaplotypeScore=13.16;MQ=61.57;MQ0=81;OQ=1707.24;QD=5.29;RankSumP=0.0487252;SB=-549.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1173C>T;refseq.codonCoord=391;refseq.end=47344492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_178134;refseq.name2=CYP4Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T391T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-29;refseq.start=47344492;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 47353844 . G A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.315543;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1258G>A;refseq.codonCoord=420;refseq.end=47353844;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_178134;refseq.name2=CYP4Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D420N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=47353844;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr1 47354940 . A G 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.448622;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1298A>G;refseq.codonCoord=433;refseq.end=47354940;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1301;refseq.name=NM_178134;refseq.name2=CYP4Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N433S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=32;refseq.start=47354940;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr1 47354953 . A G 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.570669;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1311A>G;refseq.codonCoord=437;refseq.end=47354953;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_178134;refseq.name2=CYP4Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I437M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-39;refseq.start=47354953;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr1 47380438 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=28.01;MQ=68.46;MQ0=47;OQ=5547.41;QD=12.38;RankSumP=0.372948;SB=-1530.17;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.454A>T;refseq.codonCoord=152;refseq.end=47380438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_001010969;refseq.name2=CYP4A22;refseq.positionType=CDS;refseq.proteinCoordStr=p.N152Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-57;refseq.start=47380438;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr1 47382076 . T C 135.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=1;HaplotypeScore=9.33;MQ=95.69;MQ0=0;OQ=7545.24;QD=18.18;RankSumP=0.404150;SB=-2711.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.691T>C;refseq.codonCoord=231;refseq.end=47382076;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_001010969;refseq.name2=CYP4A22;refseq.positionType=CDS;refseq.proteinCoordStr=p.C231R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=56;refseq.start=47382076;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 47382880 . C T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=806;Dels=0.00;HRun=0;HaplotypeScore=57.00;MQ=2.93;MQ0=786;OQ=87.74;QD=0.11;RankSumP=0.176190;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.969C>T;refseq.codonCoord=323;refseq.end=47382880;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_001010969;refseq.name2=CYP4A22;refseq.positionType=CDS;refseq.proteinCoordStr=p.H323H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=72;refseq.start=47382880;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 0/1 chr1 47458042 . T C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=14.15;MQ=94.44;MQ0=0;OQ=2066.79;QD=25.20;RankSumP=1.00000;SB=-1049.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.933A>G;refseq.codonCoord=311;refseq.end=47458042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_003189;refseq.name2=TAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K311K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=392;refseq.start=47458042;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 47489776 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=2;HaplotypeScore=2.31;MQ=98.99;MQ0=0;OQ=17434.76;QD=39.00;RankSumP=1.00000;SB=-8595.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3486T>C;refseq.codingCoordStr_2=c.3483T>C;refseq.codonCoord_1=1162;refseq.codonCoord_2=1161;refseq.end_1=47489776;refseq.end_2=47489776;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3641;refseq.mrnaCoord_2=3638;refseq.name2_1=STIL;refseq.name2_2=STIL;refseq.name_1=NM_001048166;refseq.name_2=NM_003035;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1162P;refseq.proteinCoordStr_2=p.P1161P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=406;refseq.spliceDist_2=406;refseq.start_1=47489776;refseq.start_2=47489776;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr1 47507915 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2594A>C;refseq.codingCoordStr_2=c.2594A>C;refseq.codonCoord_1=865;refseq.codonCoord_2=865;refseq.end_1=47507915;refseq.end_2=47507915;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2749;refseq.mrnaCoord_2=2749;refseq.name2_1=STIL;refseq.name2_2=STIL;refseq.name_1=NM_001048166;refseq.name_2=NM_003035;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N865T;refseq.proteinCoordStr_2=p.N865T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=47507915;refseq.start_2=47507915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr1 47519193 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1524A>C;refseq.codingCoordStr_2=c.1524A>C;refseq.codonCoord_1=508;refseq.codonCoord_2=508;refseq.end_1=47519193;refseq.end_2=47519193;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1679;refseq.mrnaCoord_2=1679;refseq.name2_1=STIL;refseq.name2_2=STIL;refseq.name_1=NM_001048166;refseq.name_2=NM_003035;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P508P;refseq.proteinCoordStr_2=p.P508P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=276;refseq.spliceDist_2=276;refseq.start_1=47519193;refseq.start_2=47519193;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 47655084 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=318.68;QD=16.77;RankSumP=0.185110;SB=-10.00;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.510C>T;refseq.codonCoord=170;refseq.end=47655084;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_012186;refseq.name2=FOXE3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A170A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=754;refseq.start=47655084;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr1 47676587 . G A 10.16 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=87.00;MQ0=0;QD=10.16;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.193G>A;refseq.codonCoord=65;refseq.end=47676587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2312;refseq.name=NM_004474;refseq.name2=FOXD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=2312;refseq.start=47676587;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.26,-0.30,-0.00:1.76 chr1 47677496 . G C 194.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=325.72;QD=36.19;RankSumP=1.00000;SB=-186.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1102G>C;refseq.codonCoord=368;refseq.end=47677496;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3221;refseq.name=NM_004474;refseq.name2=FOXD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A368P;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1455;refseq.start=47677496;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 48470320 . T G 379.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.77;MQ0=0;OQ=13283.71;QD=39.42;RankSumP=1.00000;SB=-3923.56;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.807T>G;refseq.codingCoordStr_2=c.882T>G;refseq.codonCoord_1=269;refseq.codonCoord_2=294;refseq.end_1=48470320;refseq.end_2=48470320;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=859;refseq.mrnaCoord_2=934;refseq.name2_1=SLC5A9;refseq.name2_2=SLC5A9;refseq.name_1=NM_001011547;refseq.name_2=NM_001135181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I269M;refseq.proteinCoordStr_2=p.I294M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-91;refseq.spliceDist_2=-91;refseq.start_1=48470320;refseq.start_2=48470320;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr1 48470338 . C T 214.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.83;MQ0=0;OQ=5429.62;QD=20.11;RankSumP=0.178822;SB=-1977.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.825C>T;refseq.codingCoordStr_2=c.900C>T;refseq.codonCoord_1=275;refseq.codonCoord_2=300;refseq.end_1=48470338;refseq.end_2=48470338;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=877;refseq.mrnaCoord_2=952;refseq.name2_1=SLC5A9;refseq.name2_2=SLC5A9;refseq.name_1=NM_001011547;refseq.name_2=NM_001135181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S275S;refseq.proteinCoordStr_2=p.S300S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=48470338;refseq.start_2=48470338;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr1 48537006 . C T 259.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=6.43;MQ=98.67;MQ0=0;OQ=17175.97;QD=40.99;RankSumP=1.00000;SB=-7570.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1433G>A;refseq.codonCoord=478;refseq.end=48537006;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1598;refseq.name=NM_019073;refseq.name2=SPATA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C478Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-142;refseq.start=48537006;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 48997171 . G T 261.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=98.01;MQ0=0;OQ=2086.85;QD=17.11;RankSumP=0.154797;SB=-528.95;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.733C>A;refseq.codonCoord_2=245;refseq.end_1=49105439;refseq.end_2=48997171;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=777;refseq.name2_1=AGBL4;refseq.name2_2=BEND5;refseq.name_1=NM_032785;refseq.name_2=NM_024603;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R245R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=-13;refseq.start_1=48901511;refseq.start_2=48997171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr1 50433998 . C T 347.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=98.84;MQ0=0;OQ=10608.57;QD=40.03;RankSumP=1.00000;SB=-4406.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.687C>T;refseq.codingCoordStr_2=c.738C>T;refseq.codingCoordStr_3=c.687C>T;refseq.codingCoordStr_4=c.696C>T;refseq.codingCoordStr_5=c.687C>T;refseq.codonCoord_1=229;refseq.codonCoord_2=246;refseq.codonCoord_3=229;refseq.codonCoord_4=232;refseq.codonCoord_5=229;refseq.end_1=50433998;refseq.end_2=50433998;refseq.end_3=50433998;refseq.end_4=50433998;refseq.end_5=50433998;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=780;refseq.mrnaCoord_3=769;refseq.mrnaCoord_4=847;refseq.mrnaCoord_5=955;refseq.name2_1=ELAVL4;refseq.name2_2=ELAVL4;refseq.name2_3=ELAVL4;refseq.name2_4=ELAVL4;refseq.name2_5=ELAVL4;refseq.name_1=NM_001144774;refseq.name_2=NM_001144775;refseq.name_3=NM_001144776;refseq.name_4=NM_001144777;refseq.name_5=NM_021952;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P229P;refseq.proteinCoordStr_2=p.P246P;refseq.proteinCoordStr_3=p.P229P;refseq.proteinCoordStr_4=p.P232P;refseq.proteinCoordStr_5=p.P229P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.spliceDist_5=-48;refseq.start_1=50433998;refseq.start_2=50433998;refseq.start_3=50433998;refseq.start_4=50433998;refseq.start_5=50433998;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_5=CCT;set=Intersection GT 1/1 chr1 50439102 . C T 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=866;Dels=0.00;HRun=1;HaplotypeScore=11.35;MQ=98.68;MQ0=0;OQ=36693.38;QD=42.37;RankSumP=1.00000;SB=-15598.33;SecondBestBaseQ=2;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.774-8;refseq.codingCoordStr_2=c.825-8;refseq.codingCoordStr_3=c.774-8;refseq.codingCoordStr_4=c.783-8;refseq.codingCoordStr_5=c.808C>T;refseq.codonCoord_5=270;refseq.end_1=50439102;refseq.end_2=50439102;refseq.end_3=50439102;refseq.end_4=50439102;refseq.end_5=50439102;refseq.frame_5=0;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=1076;refseq.name2_1=ELAVL4;refseq.name2_2=ELAVL4;refseq.name2_3=ELAVL4;refseq.name2_4=ELAVL4;refseq.name2_5=ELAVL4;refseq.name_1=NM_001144774;refseq.name_2=NM_001144775;refseq.name_3=NM_001144776;refseq.name_4=NM_001144777;refseq.name_5=NM_021952;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.P270S;refseq.referenceAA_5=Pro;refseq.referenceCodon_5=CCC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceDist_5=35;refseq.spliceInfo_1=splice-acceptor_-8;refseq.spliceInfo_2=splice-acceptor_-8;refseq.spliceInfo_3=splice-acceptor_-8;refseq.spliceInfo_4=splice-acceptor_-8;refseq.start_1=50439102;refseq.start_2=50439102;refseq.start_3=50439102;refseq.start_4=50439102;refseq.start_5=50439102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Ser;refseq.variantCodon_5=TCC;set=Intersection GT 1/1 chr1 51599509 . T C 282.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=98.87;MQ0=0;OQ=7042.76;QD=21.21;RankSumP=0.131795;SB=-2494.60;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1524A>G;refseq.codingCoordStr_2=c.2466A>G;refseq.codonCoord_1=508;refseq.codonCoord_2=822;refseq.end_1=51599509;refseq.end_2=51599509;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1689;refseq.mrnaCoord_2=2558;refseq.name2_1=EPS15;refseq.name2_2=EPS15;refseq.name_1=NM_001159969;refseq.name_2=NM_001981;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I508M;refseq.proteinCoordStr_2=p.I822M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=51599509;refseq.start_2=51599509;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr1 51646539 . G A 280.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=9.19;MQ=98.69;MQ0=0;OQ=11833.08;QD=41.09;RankSumP=1.00000;SB=-4053.44;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.387C>T;refseq.codingCoordStr_2=c.1329C>T;refseq.codonCoord_1=129;refseq.codonCoord_2=443;refseq.end_1=51646539;refseq.end_2=51646539;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=552;refseq.mrnaCoord_2=1421;refseq.name2_1=EPS15;refseq.name2_2=EPS15;refseq.name_1=NM_001159969;refseq.name_2=NM_001981;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y129Y;refseq.proteinCoordStr_2=p.Y443Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=51646539;refseq.start_2=51646539;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr1 52038830 . G A 80.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=98.85;MQ0=0;OQ=18939.05;QD=43.14;RankSumP=1.00000;SB=-9200.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2427C>T;refseq.codingCoordStr_2=c.2631C>T;refseq.codonCoord_1=809;refseq.codonCoord_2=877;refseq.end_1=52038830;refseq.end_2=52038830;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2749;refseq.mrnaCoord_2=2953;refseq.name2_1=NRD1;refseq.name2_2=NRD1;refseq.name_1=NM_001101662;refseq.name_2=NM_002525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P809P;refseq.proteinCoordStr_2=p.P877P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=52038830;refseq.start_2=52038830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr1 52063572 . T G 286.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.77;MQ0=0;OQ=9332.86;QD=40.75;RankSumP=1.00000;SB=-4251.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1011A>C;refseq.codingCoordStr_2=c.1215A>C;refseq.codonCoord_1=337;refseq.codonCoord_2=405;refseq.end_1=52063572;refseq.end_2=52063572;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1333;refseq.mrnaCoord_2=1537;refseq.name2_1=NRD1;refseq.name2_2=NRD1;refseq.name_1=NM_001101662;refseq.name_2=NM_002525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G337G;refseq.proteinCoordStr_2=p.G405G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=52063572;refseq.start_2=52063572;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 52078645 . A T 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.571429;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.471T>A;refseq.codingCoordStr_2=c.471T>A;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=52078645;refseq.end_2=52078645;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=793;refseq.mrnaCoord_2=793;refseq.name2_1=NRD1;refseq.name2_2=NRD1;refseq.name_1=NM_001101662;refseq.name_2=NM_002525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D157E;refseq.proteinCoordStr_2=p.D157E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.start_1=52078645;refseq.start_2=52078645;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=soap GT 0/1 chr1 52078654 . T A 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.431818;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.462A>T;refseq.codingCoordStr_2=c.462A>T;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=52078654;refseq.end_2=52078654;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=784;refseq.name2_1=NRD1;refseq.name2_2=NRD1;refseq.name_1=NM_001101662;refseq.name_2=NM_002525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E154D;refseq.proteinCoordStr_2=p.E154D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.start_1=52078654;refseq.start_2=52078654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr1 52303121 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.-84A>C;refseq.codingCoordStr_3=c.91A>C;refseq.codonCoord_3=31;refseq.end_1=52303121;refseq.end_2=52303121;refseq.end_3=52303121;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=299;refseq.mrnaCoord_2=232;refseq.mrnaCoord_3=299;refseq.name2_1=BTF3L4;refseq.name2_2=BTF3L4;refseq.name2_3=BTF3L4;refseq.name_1=NR_024350;refseq.name_2=NM_001136497;refseq.name_3=NM_152265;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.T31P;refseq.referenceAA_3=Thr;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.start_1=52303121;refseq.start_2=52303121;refseq.start_3=52303121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr1 52764226 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=16.40;MQ=98.48;MQ0=0;OQ=15685.44;QD=42.86;RankSumP=1.00000;SB=-5214.51;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.315G>A;refseq.codingCoordStr_2=c.315G>A;refseq.codingCoordStr_3=c.315G>A;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.end_1=52764226;refseq.end_2=52764226;refseq.end_3=52764226;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=549;refseq.mrnaCoord_2=549;refseq.mrnaCoord_3=549;refseq.name2_1=ZCCHC11;refseq.name2_2=ZCCHC11;refseq.name2_3=ZCCHC11;refseq.name_1=NM_001009881;refseq.name_2=NM_001009882;refseq.name_3=NM_015269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P105P;refseq.proteinCoordStr_2=p.P105P;refseq.proteinCoordStr_3=p.P105P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-404;refseq.spliceDist_2=-404;refseq.spliceDist_3=-404;refseq.start_1=52764226;refseq.start_2=52764226;refseq.start_3=52764226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr1 52845042 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=20.46;MQ=98.61;MQ0=0;OQ=14421.35;QD=37.26;RankSumP=1.00000;SB=-5535.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.237T>C;refseq.codonCoord=79;refseq.end=52845042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_015696;refseq.name2=GPX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F79F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=99;refseq.start=52845042;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 52931109 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.125A>G;refseq.codonCoord=42;refseq.end=52931109;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_023077;refseq.name2=C1orf163;refseq.positionType=CDS;refseq.proteinCoordStr=p.D42G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=19;refseq.start=52931109;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 52931112 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.122T>G;refseq.codonCoord=41;refseq.end=52931112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=162;refseq.name=NM_023077;refseq.name2=C1orf163;refseq.positionType=CDS;refseq.proteinCoordStr=p.V41G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=16;refseq.start=52931112;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 53023238 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=11.10;MQ=98.84;MQ0=0;OQ=1716.46;QD=13.73;RankSumP=0.409395;SB=-708.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1194G>A;refseq.codonCoord=398;refseq.end=53023238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1389;refseq.name=NM_024646;refseq.name2=ZYG11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G398G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-76;refseq.start=53023238;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 53142945 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=84;Dels=0.00;HRun=1;HaplotypeScore=6.86;MQ=98.96;MQ0=0;OQ=853.59;QD=10.16;RankSumP=0.186463;SB=-404.70;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.570C>A;refseq.codonCoord=190;refseq.end=53142945;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_018281;refseq.name2=ECHDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y190*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-40;refseq.start=53142945;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 0/1 chr1 53308066 . G A 348.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.79;MQ0=0;OQ=889.71;QD=38.68;RankSumP=1.00000;SB=-412.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.95G>A;refseq.codonCoord=32;refseq.end=53308066;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_153703;refseq.name2=PODN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=53308066;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 53309854 . G A 117.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=99.00;MQ0=0;OQ=4329.61;QD=29.65;RankSumP=1.00000;SB=-1484.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=53309854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_153703;refseq.name2=PODN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T172T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-35;refseq.start=53309854;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 53317027 . G A 259.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=99.00;MQ0=0;OQ=2836.35;QD=31.87;RankSumP=1.00000;SB=-919.04;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1401G>A;refseq.codonCoord=467;refseq.end=53317027;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_153703;refseq.name2=PODN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P467P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-256;refseq.start=53317027;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 53317185 . T C 136.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=159.66;QD=31.93;RankSumP=1.00000;SB=-91.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1559T>C;refseq.codonCoord=520;refseq.end=53317185;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_153703;refseq.name2=PODN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V520A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-98;refseq.start=53317185;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/1 chr1 53326290 . A G 341.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.94;MQ0=0;OQ=5095.10;QD=34.20;RankSumP=1.00000;SB=-1873.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1662T>C;refseq.codonCoord=554;refseq.end=53326290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1830;refseq.name=NM_006671;refseq.name2=SLC1A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S554S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=198;refseq.start=53326290;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 53326342 . T C 70.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=172;Dels=0.00;HRun=2;HaplotypeScore=3.49;MQ=97.74;MQ0=0;OQ=6066.54;QD=35.27;RankSumP=1.00000;SB=-2589.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1610A>G;refseq.codonCoord=537;refseq.end=53326342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1778;refseq.name=NM_006671;refseq.name2=SLC1A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q537R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=146;refseq.start=53326342;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 53330858 . A G 381.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.36;MQ0=0;OQ=2269.84;QD=35.47;RankSumP=1.00000;SB=-1155.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.987T>C;refseq.codonCoord=329;refseq.end=53330858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_006671;refseq.name2=SLC1A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R329R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-45;refseq.start=53330858;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 53449036 . G A 421.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.29;MQ0=0;OQ=3190.18;QD=41.43;RankSumP=1.00000;SB=-1498.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1102G>A;refseq.codonCoord=368;refseq.end=53449036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1617;refseq.name=NM_000098;refseq.name2=CPT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V368I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-544;refseq.start=53449036;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 53451817 . A G 124.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.92;MQ0=0;OQ=1574.68;QD=13.01;RankSumP=0.367617;SB=-433.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1939A>G;refseq.codonCoord=647;refseq.end=53451817;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2454;refseq.name=NM_000098;refseq.name2=CPT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M647V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=294;refseq.start=53451817;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 53454287 . T G 117.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=98.60;MQ0=0;OQ=1069.83;QD=13.89;RankSumP=0.0905738;SB=-481.76;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.369A>C;refseq.codonCoord=123;refseq.end=53454287;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_017887;refseq.name2=C1orf123;refseq.positionType=CDS;refseq.proteinCoordStr=p.S123S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=30;refseq.start=53454287;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr1 53485315 . C T 289.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.92;MQ0=0;OQ=11319.51;QD=43.20;RankSumP=1.00000;SB=-3837.85;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.2678G>A;refseq.codingCoordStr_2=c.2855G>A;refseq.codingCoordStr_3=c.2066G>A;refseq.codingCoordStr_4=c.2345G>A;refseq.codonCoord_1=893;refseq.codonCoord_2=952;refseq.codonCoord_3=689;refseq.codonCoord_4=782;refseq.end_1=53485315;refseq.end_2=53485315;refseq.end_3=53485315;refseq.end_4=53485315;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2820;refseq.mrnaCoord_2=2997;refseq.mrnaCoord_3=2208;refseq.mrnaCoord_4=2582;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R893Q;refseq.proteinCoordStr_2=p.R952Q;refseq.proteinCoordStr_3=p.R689Q;refseq.proteinCoordStr_4=p.R782Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.start_1=53485315;refseq.start_2=53485315;refseq.start_3=53485315;refseq.start_4=53485315;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 1/1 chr1 53489004 . G A 272.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=10728.87;QD=41.58;RankSumP=1.00000;SB=-4692.58;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.2622C>T;refseq.codingCoordStr_2=c.2622C>T;refseq.codingCoordStr_3=c.2010C>T;refseq.codingCoordStr_4=c.2112C>T;refseq.codonCoord_1=874;refseq.codonCoord_2=874;refseq.codonCoord_3=670;refseq.codonCoord_4=704;refseq.end_1=53489004;refseq.end_2=53489004;refseq.end_3=53489004;refseq.end_4=53489004;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2764;refseq.mrnaCoord_2=2764;refseq.mrnaCoord_3=2152;refseq.mrnaCoord_4=2349;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D874D;refseq.proteinCoordStr_2=p.D874D;refseq.proteinCoordStr_3=p.D670D;refseq.proteinCoordStr_4=p.D704D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.start_1=53489004;refseq.start_2=53489004;refseq.start_3=53489004;refseq.start_4=53489004;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/1 chr1 53496657 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.2131T>C;refseq.codingCoordStr_2=c.2131T>C;refseq.codingCoordStr_3=c.1744T>C;refseq.codingCoordStr_4=c.1621T>C;refseq.codonCoord_1=711;refseq.codonCoord_2=711;refseq.codonCoord_3=582;refseq.codonCoord_4=541;refseq.end_1=53496657;refseq.end_2=53496657;refseq.end_3=53496657;refseq.end_4=53496657;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2273;refseq.mrnaCoord_2=2273;refseq.mrnaCoord_3=1886;refseq.mrnaCoord_4=1858;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S711P;refseq.proteinCoordStr_2=p.S711P;refseq.proteinCoordStr_3=p.S582P;refseq.proteinCoordStr_4=p.S541P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.spliceDist_3=75;refseq.spliceDist_4=75;refseq.start_1=53496657;refseq.start_2=53496657;refseq.start_3=53496657;refseq.start_4=53496657;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr1 53504903 . G T 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=98.88;MQ0=0;OQ=8129.31;QD=37.99;RankSumP=1.00000;SB=-3409.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1257C>A;refseq.codingCoordStr_2=c.1257C>A;refseq.codingCoordStr_3=c.870C>A;refseq.codingCoordStr_4=c.747C>A;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.codonCoord_3=290;refseq.codonCoord_4=249;refseq.end_1=53504903;refseq.end_2=53504903;refseq.end_3=53504903;refseq.end_4=53504903;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1399;refseq.mrnaCoord_2=1399;refseq.mrnaCoord_3=1012;refseq.mrnaCoord_4=984;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G419G;refseq.proteinCoordStr_2=p.G419G;refseq.proteinCoordStr_3=p.G290G;refseq.proteinCoordStr_4=p.G249G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceDist_4=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.spliceInfo_4=splice-acceptor_5;refseq.start_1=53504903;refseq.start_2=53504903;refseq.start_3=53504903;refseq.start_4=53504903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=Intersection GT 1/1 chr1 53518934 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=283;Dels=0.00;HRun=3;HaplotypeScore=28.10;MQ=96.58;MQ0=0;OQ=86.58;QD=0.31;RankSumP=0.00000;SB=369.17;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.409A>C;refseq.codingCoordStr_2=c.409A>C;refseq.codingCoordStr_3=c.409A>C;refseq.codingCoordStr_4=c.409A>C;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.codonCoord_3=137;refseq.codonCoord_4=137;refseq.end_1=53518934;refseq.end_2=53518934;refseq.end_3=53518934;refseq.end_4=53518934;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=551;refseq.mrnaCoord_3=551;refseq.mrnaCoord_4=646;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T137P;refseq.proteinCoordStr_2=p.T137P;refseq.proteinCoordStr_3=p.T137P;refseq.proteinCoordStr_4=p.T137P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.spliceDist_4=42;refseq.start_1=53518934;refseq.start_2=53518934;refseq.start_3=53518934;refseq.start_4=53518934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr1 53565239 . A C 329.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.74;MQ0=0;OQ=4390.62;QD=17.92;RankSumP=0.110200;SB=-1137.02;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.138T>G;refseq.codingCoordStr_2=c.138T>G;refseq.codingCoordStr_3=c.138T>G;refseq.codingCoordStr_4=c.138T>G;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.codonCoord_4=46;refseq.end_1=53565239;refseq.end_2=53565239;refseq.end_3=53565239;refseq.end_4=53565239;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=280;refseq.mrnaCoord_2=280;refseq.mrnaCoord_3=280;refseq.mrnaCoord_4=375;refseq.name2_1=LRP8;refseq.name2_2=LRP8;refseq.name2_3=LRP8;refseq.name2_4=LRP8;refseq.name_1=NM_001018054;refseq.name_2=NM_004631;refseq.name_3=NM_017522;refseq.name_4=NM_033300;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D46E;refseq.proteinCoordStr_2=p.D46E;refseq.proteinCoordStr_3=p.D46E;refseq.proteinCoordStr_4=p.D46E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.start_1=53565239;refseq.start_2=53565239;refseq.start_3=53565239;refseq.start_4=53565239;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 0/1 chr1 53832604 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=4.57;MQ=97.21;MQ0=0;OQ=405.60;QD=10.96;RankSumP=0.467674;SB=-40.41;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.560C>G;refseq.codonCoord=187;refseq.end=53832604;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1127;refseq.name=NM_147193;refseq.name2=GLIS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A187G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-236;refseq.start=53832604;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr1 53832836 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.46;MQ0=0;OQ=611.38;QD=8.49;RankSumP=0.223539;SB=-170.29;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.328A>G;refseq.codonCoord=110;refseq.end=53832836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_147193;refseq.name2=GLIS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T110A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=416;refseq.start=53832836;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr1 54377908 . G C 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.544322;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1223C>G;refseq.codonCoord=408;refseq.end=54377908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2071;refseq.name=NM_201546;refseq.name2=CDCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P408R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=460;refseq.start=54377908;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr1 54377915 . C G 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=8;RankSumP=0.542857;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1216G>C;refseq.codonCoord=406;refseq.end=54377915;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2064;refseq.name=NM_201546;refseq.name2=CDCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A406P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=453;refseq.start=54377915;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr1 54379392 . C T 242.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.79;MQ0=0;OQ=4147.30;QD=21.60;RankSumP=0.264658;SB=-881.49;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.730G>A;refseq.codonCoord=244;refseq.end=54379392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_201546;refseq.name2=CDCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G244R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-34;refseq.start=54379392;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 54379639 . A G 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=218;Dels=0.00;HRun=3;HaplotypeScore=9.21;MQ=98.51;MQ0=0;OQ=7023.82;QD=32.22;RankSumP=1.00000;SB=-2438.42;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.483T>C;refseq.codonCoord=161;refseq.end=54379639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_201546;refseq.name2=CDCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y161Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=56;refseq.start=54379639;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 54379658 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.464T>G;refseq.codonCoord=155;refseq.end=54379658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1312;refseq.name=NM_201546;refseq.name2=CDCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=37;refseq.start=54379658;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 54454508 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=4.08;MQ=98.67;MQ0=0;OQ=14643.51;QD=49.14;RankSumP=1.00000;SB=-3370.24;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1097G>C;refseq.codonCoord=366;refseq.end=54454508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1174;refseq.name=NM_016491;refseq.name2=MRPL37;refseq.positionType=CDS;refseq.proteinCoordStr=p.C366S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-98;refseq.start=54454508;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 54848040 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=336.47;QD=8.63;RankSumP=0.668436;SB=-99.58;SecondBestBaseQ=28;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.*667G>A;refseq.codingCoordStr_3=c.1247C>T;refseq.codonCoord_3=416;refseq.end_1=54868984;refseq.end_2=54848040;refseq.end_3=54848040;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2534;refseq.mrnaCoord_3=1379;refseq.name2_1=ACOT11;refseq.name2_2=ACOT11;refseq.name2_3=FAM151A;refseq.name_1=NM_015547;refseq.name_2=NM_147161;refseq.name_3=NM_176782;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A416V;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=-549;refseq.spliceDist_3=163;refseq.start_1=54846340;refseq.start_2=54848040;refseq.start_3=54848040;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr1 54848720 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1037T>G;refseq.codonCoord_2=346;refseq.end_1=54868984;refseq.end_2=54848720;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1169;refseq.name2_1=ACOT11;refseq.name2_2=FAM151A;refseq.name_1=NM_015547;refseq.name_2=NM_176782;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V346G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=-48;refseq.start_1=54846340;refseq.start_2=54848720;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr1 54892103 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=479;Dels=0.00;HRun=0;HaplotypeScore=21.64;MQ=98.34;MQ0=0;OQ=16970.48;QD=35.43;RankSumP=1.00000;SB=-7344.36;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.916T>G;refseq.codonCoord_2=306;refseq.end_1=54892103;refseq.end_2=54892103;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1234;refseq.mrnaCoord_2=1240;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y306D;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-316;refseq.spliceDist_2=-316;refseq.start_1=54892103;refseq.start_2=54892103;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr1 54892134 . A G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=507;Dels=0.00;HRun=1;HaplotypeScore=6.09;MQ=98.35;MQ0=0;OQ=19762.37;QD=38.98;RankSumP=1.00000;SB=-9098.59;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.947A>G;refseq.codonCoord_2=316;refseq.end_1=54892134;refseq.end_2=54892134;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1265;refseq.mrnaCoord_2=1271;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E316G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-285;refseq.spliceDist_2=-285;refseq.start_1=54892134;refseq.start_2=54892134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr1 54909117 . T C 429.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.95;MQ0=0;OQ=4680.70;QD=36.28;RankSumP=1.00000;SB=-2146.81;SecondBestBaseQ=35;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1526T>C;refseq.codonCoord_2=509;refseq.end_1=54909117;refseq.end_2=54909117;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1844;refseq.mrnaCoord_2=1850;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V509A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=54909117;refseq.start_2=54909117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr1 54912329 . A G 455.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=98.64;MQ0=0;OQ=8544.73;QD=38.15;RankSumP=1.00000;SB=-2236.42;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1853A>G;refseq.codonCoord_2=618;refseq.end_1=54912329;refseq.end_2=54912329;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2187;refseq.mrnaCoord_2=2177;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H618R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=69;refseq.spliceDist_2=53;refseq.start_1=54912329;refseq.start_2=54912329;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr1 54939430 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=8.06;MQ=98.94;MQ0=0;OQ=4749.51;QD=22.72;RankSumP=0.378584;SB=-1956.88;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.3132C>T;refseq.codonCoord_2=1044;refseq.end_1=54939430;refseq.end_2=54939430;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3466;refseq.mrnaCoord_2=3456;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P1044P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=54939430;refseq.start_2=54939430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr1 54940361 . T A 338.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.81;MQ0=0;OQ=6331.12;QD=37.69;RankSumP=1.00000;SB=-2443.30;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.3296T>A;refseq.codonCoord_2=1099;refseq.end_1=54940361;refseq.end_2=54940361;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3630;refseq.mrnaCoord_2=3620;refseq.name2_1=C1orf175;refseq.name2_2=C1orf175;refseq.name_1=NR_026782;refseq.name_2=NM_001039464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V1099D;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=54940361;refseq.start_2=54940361;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr1 54954888 . T A 294.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=98.34;MQ0=0;OQ=5795.59;QD=21.63;RankSumP=0.393908;SB=-2391.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.139T>A;refseq.codonCoord=47;refseq.end=54954888;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_004623;refseq.name2=TTC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S47T;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=28;refseq.start=54954888;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 54979673 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1063T>G;refseq.codonCoord=355;refseq.end=54979673;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_004623;refseq.name2=TTC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y355D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=54979673;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr1 54996719 . T C 299.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=97.94;MQ0=0;OQ=2215.61;QD=16.17;RankSumP=0.138752;SB=-1124.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.704A>G;refseq.codonCoord=235;refseq.end=54996719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_152268;refseq.name2=PARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N235S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=733;refseq.start=54996719;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 54997339 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=100;Dels=0.00;HRun=3;HaplotypeScore=20.07;MQ=98.23;MQ0=0;OQ=1409.80;QD=14.10;RankSumP=0.121321;SB=-671.38;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.84G>T;refseq.codonCoord=28;refseq.end=54997339;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_152268;refseq.name2=PARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R28S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=113;refseq.start=54997339;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 55024277 . T C 272.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=96.78;MQ0=0;OQ=3026.35;QD=35.19;RankSumP=1.00000;SB=-1049.05;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.987A>G;refseq.codingCoordStr_2=c.987A>G;refseq.codonCoord_1=329;refseq.codonCoord_2=329;refseq.end_1=55024277;refseq.end_2=55024277;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1092;refseq.mrnaCoord_2=1092;refseq.name2_1=TTC22;refseq.name2_2=TTC22;refseq.name_1=NM_001114108;refseq.name_2=NM_017904;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E329E;refseq.proteinCoordStr_2=p.E329E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=55024277;refseq.start_2=55024277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 55046168 . G T 351.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2066.24;QD=39.74;RankSumP=1.00000;SB=-421.26;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.376G>T;refseq.codingCoordStr_2=c.376G>T;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=55046168;refseq.end_2=55046168;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=430;refseq.mrnaCoord_2=430;refseq.name2_1=C1orf177;refseq.name2_2=C1orf177;refseq.name_1=NM_001110533;refseq.name_2=NM_152607;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G126C;refseq.proteinCoordStr_2=p.G126C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=55046168;refseq.start_2=55046168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr1 55050187 . T C 340.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.26;MQ0=0;OQ=8393.78;QD=37.64;RankSumP=1.00000;SB=-4034.60;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.613T>C;refseq.codingCoordStr_2=c.613T>C;refseq.codonCoord_1=205;refseq.codonCoord_2=205;refseq.end_1=55050187;refseq.end_2=55050187;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=667;refseq.mrnaCoord_2=667;refseq.name2_1=C1orf177;refseq.name2_2=C1orf177;refseq.name_1=NM_001110533;refseq.name_2=NM_152607;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y205H;refseq.proteinCoordStr_2=p.Y205H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=55050187;refseq.start_2=55050187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr1 55092490 . A G 390.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=98.74;MQ0=0;OQ=7384.60;QD=40.57;RankSumP=1.00000;SB=-1967.23;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1026T>C;refseq.codonCoord=342;refseq.end=55092490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_014762;refseq.name2=DHCR24;refseq.positionType=CDS;refseq.proteinCoordStr=p.I342I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=55092490;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 55230298 . G A 296.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.31;MQ0=0;OQ=2185.50;QD=40.47;RankSumP=1.00000;SB=-948.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.567G>A;refseq.codonCoord=189;refseq.end=55230298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_182532;refseq.name2=TMEM61;refseq.positionType=CDS;refseq.proteinCoordStr=p.A189A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=202;refseq.start=55230298;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 55295621 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=10.43;MQ=98.70;MQ0=0;OQ=6019.74;QD=28.67;RankSumP=1.00000;SB=-1239.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1026A>G;refseq.codonCoord=342;refseq.end=55295621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_174936;refseq.name2=PCSK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q342Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=30;refseq.start=55295621;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 55295623 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1028A>C;refseq.codonCoord=343;refseq.end=55295623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1319;refseq.name=NM_174936;refseq.name2=PCSK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D343A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=32;refseq.start=55295623;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 55296785 . A G 283.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=8.47;MQ=98.34;MQ0=0;OQ=12534.44;QD=38.10;RankSumP=1.00000;SB=-6191.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1380A>G;refseq.codonCoord=460;refseq.end=55296785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1671;refseq.name=NM_174936;refseq.name2=PCSK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V460V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=26;refseq.start=55296785;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 55296825 . G A 317.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=98.18;MQ0=0;OQ=7431.09;QD=36.25;RankSumP=1.00000;SB=-1605.73;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1420G>A;refseq.codonCoord=474;refseq.end=55296825;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1711;refseq.name=NM_174936;refseq.name2=PCSK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V474I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=66;refseq.start=55296825;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 55301775 . G A 98.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=7.64;MQ=97.84;MQ0=0;OQ=2325.67;QD=29.44;RankSumP=1.00000;SB=-880.14;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2009G>A;refseq.codonCoord=670;refseq.end=55301775;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2300;refseq.name=NM_174936;refseq.name2=PCSK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G670E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=146;refseq.start=55301775;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 56775215 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=773;Dels=0.00;HRun=0;HaplotypeScore=20.77;MQ=98.63;MQ0=0;OQ=15086.21;QD=19.52;RankSumP=0.0519103;SB=-3750.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.297G>A;refseq.codingCoordStr_2=c.297G>A;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=56775215;refseq.end_2=56775215;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=865;refseq.mrnaCoord_2=798;refseq.name2_1=PPAP2B;refseq.name2_2=PPAP2B;refseq.name_1=NM_003713;refseq.name_2=NM_177414;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A99A;refseq.proteinCoordStr_2=p.A99A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=56775215;refseq.start_2=56775215;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr1 56930639 . G A 154.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=6.75;MQ=98.76;MQ0=0;OQ=11080.63;QD=20.56;RankSumP=0.497963;SB=-3759.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.351G>A;refseq.codonCoord=117;refseq.end=56930639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_006252;refseq.name2=PRKAA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R117R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=21;refseq.start=56930639;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 56992127 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=205;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.40;MQ0=0;OQ=3179.77;QD=15.51;RankSumP=0.400949;SB=-1266.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1200G>T;refseq.codonCoord=400;refseq.end=56992127;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1606;refseq.name=NM_001004303;refseq.name2=C1orf168;refseq.positionType=CDS;refseq.proteinCoordStr=p.K400N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-28;refseq.start=56992127;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 57030405 . T C 267.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.59;MQ0=0;OQ=2885.16;QD=15.03;RankSumP=0.235419;SB=-1402.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.669A>G;refseq.codonCoord=223;refseq.end=57030405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1075;refseq.name=NM_001004303;refseq.name2=C1orf168;refseq.positionType=CDS;refseq.proteinCoordStr=p.K223K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-89;refseq.start=57030405;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 57113315 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.71;MQ0=0;OQ=1663.55;QD=12.14;RankSumP=0.0731497;SB=-494.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.277C>A;refseq.codonCoord=93;refseq.end=57113315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_000562;refseq.name2=C8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q93K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-40;refseq.start=57113315;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr1 57195072 . C T 403.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.90;MQ0=0;OQ=4076.96;QD=43.37;RankSumP=1.00000;SB=-2010.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.349G>A;refseq.codonCoord=117;refseq.end=57195072;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_000066;refseq.name2=C8B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G117R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-43;refseq.start=57195072;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr1 57253547 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1041T>C;refseq.codonCoord=347;refseq.end=57253547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1715;refseq.name=NM_021080;refseq.name2=DAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F347F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=146;refseq.start=57253547;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr1 58744419 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.76;MQ0=0;OQ=2338.74;QD=15.70;RankSumP=0.106697;SB=-590.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1266C>T;refseq.codonCoord=422;refseq.end=58744419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_145243;refseq.name2=OMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F422F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=51;refseq.start=58744419;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr1 58772300 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=4;HaplotypeScore=7.91;MQ=98.99;MQ0=0;OQ=6095.79;QD=17.62;RankSumP=0.374306;SB=-1910.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.924C>T;refseq.codonCoord=308;refseq.end=58772300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_145243;refseq.name2=OMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F308F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=21;refseq.start=58772300;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr1 58814769 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=95.87;MQ0=0;OQ=469.23;QD=9.78;RankSumP=0.354648;SB=-208.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.648C>A;refseq.codonCoord=216;refseq.end=58814769;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_002353;refseq.name2=TACSTD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D216E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=986;refseq.start=58814769;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 58814976 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=7.34;MQ=98.69;MQ0=0;OQ=1284.00;QD=20.71;RankSumP=0.342232;SB=-639.22;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.441G>C;refseq.codonCoord=147;refseq.end=58814976;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=779;refseq.name=NM_002353;refseq.name2=TACSTD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E147D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=779;refseq.start=58814976;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 58915301 . T C 210.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=445;Dels=0.00;HRun=0;HaplotypeScore=13.73;MQ=98.73;MQ0=0;OQ=8342.91;QD=18.75;RankSumP=0.393157;SB=-2986.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1275A>G;refseq.codonCoord=425;refseq.end=58915301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1298;refseq.name=NM_001085487;refseq.name2=MYSM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P425P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=16;refseq.start=58915301;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 58920514 . T C 266.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=7807.82;QD=19.47;RankSumP=0.113658;SB=-2878.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.790A>G;refseq.codonCoord=264;refseq.end=58920514;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=813;refseq.name=NM_001085487;refseq.name2=MYSM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T264A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=292;refseq.start=58920514;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr1 59617059 . G A 291.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=7.70;MQ=98.33;MQ0=0;OQ=14023.04;QD=42.11;RankSumP=1.00000;SB=-5917.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.516G>A;refseq.codingCoordStr_2=c.516G>A;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=59617059;refseq.end_2=59617059;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=728;refseq.mrnaCoord_2=728;refseq.name2_1=FGGY;refseq.name2_2=FGGY;refseq.name_1=NM_001113411;refseq.name_2=NM_018291;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P172P;refseq.proteinCoordStr_2=p.P172P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=59617059;refseq.start_2=59617059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr1 60276350 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.62;MQ0=0;OQ=699.40;QD=6.86;RankSumP=0.452853;SB=-86.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.765A>G;refseq.codonCoord=255;refseq.end=60276350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_152377;refseq.name2=C1orf87;refseq.positionType=CDS;refseq.proteinCoordStr=p.L255L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=18;refseq.start=60276350;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 62004619 . C T 149.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=3.91;MQ=97.52;MQ0=0;OQ=13057.53;QD=41.85;RankSumP=1.00000;SB=-5943.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.270C>T;refseq.codonCoord=90;refseq.end=62004619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I90I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=81;refseq.start=62004619;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr1 62004718 . T C 270.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=13420.67;QD=42.20;RankSumP=1.00000;SB=-4428.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.369T>C;refseq.codonCoord=123;refseq.end=62004718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I123I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-16;refseq.start=62004718;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 62033756 . A G 445.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.83;MQ0=0;OQ=7003.03;QD=42.19;RankSumP=1.00000;SB=-2580.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1198A>G;refseq.codonCoord=400;refseq.end=62033756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1312;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I400V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=30;refseq.start=62033756;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 62102668 . T G 303.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=7.91;MQ=98.70;MQ0=0;OQ=11282.30;QD=41.18;RankSumP=1.00000;SB=-5257.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2610T>G;refseq.codonCoord=870;refseq.end=62102668;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2724;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I870M;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=171;refseq.start=62102668;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 62152858 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.96;MQ0=0;OQ=625.81;QD=12.52;RankSumP=0.491674;SB=-184.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3504C>T;refseq.codonCoord=1168;refseq.end=62152858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3618;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1168N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=12;refseq.start=62152858;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 62152886 . G A 176.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.11;MQ0=0;OQ=893.85;QD=15.41;RankSumP=0.408570;SB=-461.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3532G>A;refseq.codonCoord=1178;refseq.end=62152886;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3646;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1178S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-39;refseq.start=62152886;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 62228602 . G A 317.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.80;MQ0=0;OQ=4815.13;QD=20.15;RankSumP=0.477350;SB=-1117.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3845G>A;refseq.codonCoord=1282;refseq.end=62228602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3959;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1282H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-23;refseq.start=62228602;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 62289271 . G C 202.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=9.26;MQ=98.84;MQ0=0;OQ=5704.53;QD=19.47;RankSumP=0.106176;SB=-1624.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4078G>C;refseq.codonCoord=1360;refseq.end=62289271;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4192;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1360L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=46;refseq.start=62289271;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 62352337 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4486T>C;refseq.codonCoord=1496;refseq.end=62352337;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4600;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1496P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=25;refseq.start=62352337;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 62352395 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4544T>G;refseq.codonCoord=1515;refseq.end=62352395;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4658;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1515G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=83;refseq.start=62352395;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 62352411 . G A 151.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=6.93;MQ=98.57;MQ0=0;OQ=3205.42;QD=17.33;RankSumP=0.455850;SB=-685.73;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4560G>A;refseq.codonCoord=1520;refseq.end=62352411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4674;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1520E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-96;refseq.start=62352411;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 62367181 . C T 249.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=15.27;MQ=98.76;MQ0=0;OQ=7761.33;QD=16.31;RankSumP=0.0174016;SB=-1641.02;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5247C>T;refseq.codonCoord=1749;refseq.end=62367181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5361;refseq.name=NM_176877;refseq.name2=INADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1749N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-25;refseq.start=62367181;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 62445134 . G A 295.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3228.29;QD=42.48;RankSumP=1.00000;SB=-232.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.246G>A;refseq.codingCoordStr_2=c.246G>A;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.end_1=62445134;refseq.end_2=62445134;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=681;refseq.mrnaCoord_2=570;refseq.name2_1=L1TD1;refseq.name2_2=L1TD1;refseq.name_1=NM_001164835;refseq.name_2=NM_019079;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G82G;refseq.proteinCoordStr_2=p.G82G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=356;refseq.spliceDist_2=356;refseq.start_1=62445134;refseq.start_2=62445134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr1 62448207 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=557.03;QD=11.60;RankSumP=0.198487;SB=-282.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1173C>T;refseq.codingCoordStr_2=c.1173C>T;refseq.codonCoord_1=391;refseq.codonCoord_2=391;refseq.end_1=62448207;refseq.end_2=62448207;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1497;refseq.name2_1=L1TD1;refseq.name2_2=L1TD1;refseq.name_1=NM_001164835;refseq.name_2=NM_019079;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A391A;refseq.proteinCoordStr_2=p.A391A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=165;refseq.spliceDist_2=165;refseq.start_1=62448207;refseq.start_2=62448207;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr1 62448480 . A G 223.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.10;MQ0=0;OQ=9006.63;QD=40.39;RankSumP=1.00000;SB=-2995.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1446A>G;refseq.codingCoordStr_2=c.1446A>G;refseq.codonCoord_1=482;refseq.codonCoord_2=482;refseq.end_1=62448480;refseq.end_2=62448480;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1881;refseq.mrnaCoord_2=1770;refseq.name2_1=L1TD1;refseq.name2_2=L1TD1;refseq.name_1=NM_001164835;refseq.name_2=NM_019079;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E482E;refseq.proteinCoordStr_2=p.E482E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=438;refseq.spliceDist_2=438;refseq.start_1=62448480;refseq.start_2=62448480;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 62485812 . C G 236.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.37;MQ0=0;OQ=9794.84;QD=43.92;RankSumP=1.00000;SB=-2648.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2803G>C;refseq.codonCoord=935;refseq.end=62485812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3180;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V935L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-81;refseq.start=62485812;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 62485834 . G A 259.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.80;MQ0=0;OQ=2873.79;QD=16.05;RankSumP=0.457139;SB=-915.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2781C>T;refseq.codonCoord=927;refseq.end=62485834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3158;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H927H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=99;refseq.start=62485834;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 62501372 . A G 343.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.52;MQ=99.00;MQ0=0;OQ=3589.08;QD=35.54;RankSumP=1.00000;SB=-772.98;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2519T>C;refseq.codonCoord=840;refseq.end=62501372;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2896;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V840A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-21;refseq.start=62501372;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 62501426 . T C 354.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.52;MQ0=0;OQ=6052.84;QD=36.03;RankSumP=1.00000;SB=-2426.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2465A>G;refseq.codonCoord=822;refseq.end=62501426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2842;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H822R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-75;refseq.start=62501426;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 62501449 . T C 274.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.48;MQ0=0;OQ=5862.19;QD=37.58;RankSumP=1.00000;SB=-2565.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2442A>G;refseq.codonCoord=814;refseq.end=62501449;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2819;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K814K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-98;refseq.start=62501449;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 62501506 . G A 373.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.34;MQ0=0;OQ=5876.00;QD=38.16;RankSumP=1.00000;SB=-2184.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2385C>T;refseq.codonCoord=795;refseq.end=62501506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2762;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P795P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=66;refseq.start=62501506;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 62505009 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=12.97;MQ=97.92;MQ0=0;OQ=1840.93;QD=9.11;RankSumP=0.454168;SB=-893.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2302A>G;refseq.codonCoord=768;refseq.end=62505009;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2679;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T768A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-18;refseq.start=62505009;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr1 62511492 . T C 130.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=97.27;MQ0=0;OQ=804.50;QD=23.66;RankSumP=1.00000;SB=-388.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1872A>G;refseq.codonCoord=624;refseq.end=62511492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2249;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P624P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-29;refseq.start=62511492;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 62511786 . G A 167.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.62;MQ0=0;OQ=2471.61;QD=15.35;RankSumP=0.351479;SB=-1259.65;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1578C>T;refseq.codonCoord=526;refseq.end=62511786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1955;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S526S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-323;refseq.start=62511786;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 62512653 . A G 107.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=1625.40;QD=12.22;RankSumP=0.313284;SB=-705.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.711T>C;refseq.codonCoord=237;refseq.end=62512653;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G237G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=695;refseq.start=62512653;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 62512728 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.636T>G;refseq.codonCoord=212;refseq.end=62512728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G212G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=620;refseq.start=62512728;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 62513034 . T C 321.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.83;MQ0=0;OQ=1657.10;QD=35.26;RankSumP=1.00000;SB=-335.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.330A>G;refseq.codonCoord=110;refseq.end=62513034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P110P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=314;refseq.start=62513034;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 62513037 . T C 261.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.88;MQ0=0;OQ=1373.66;QD=34.34;RankSumP=1.00000;SB=-272.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.327A>G;refseq.codonCoord=109;refseq.end=62513037;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_181712;refseq.name2=KANK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S109S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=311;refseq.start=62513037;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 62695807 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6277A>C;refseq.codonCoord=2093;refseq.end=62695807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6311;refseq.name=NM_033407;refseq.name2=DOCK7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2093P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-11;refseq.start=62695807;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 62725658 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5414A>G;refseq.codonCoord=1805;refseq.end=62725658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5448;refseq.name=NM_033407;refseq.name2=DOCK7;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1805G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=62725658;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 63561676 . C T 3 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=89.89;MQ0=0;OQ=66.77;QD=9.54;RankSumP=0.200000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.359C>T;refseq.codonCoord=120;refseq.end=63561676;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_012183;refseq.name2=FOXD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P120L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=359;refseq.start=63561676;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 0/1 chr1 63650226 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=563;Dels=0.00;HRun=2;HaplotypeScore=57.36;MQ=98.36;MQ0=0;OQ=316.64;QD=0.56;RankSumP=0.00000;SB=817.73;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.722C>T;refseq.codonCoord=241;refseq.end=63650226;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_013339;refseq.name2=ALG6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S241F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=42;refseq.start=63650226;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr1 64247576 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.103T>G;refseq.codingCoordStr_2=c.103T>G;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=64247576;refseq.end_2=64247576;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=502;refseq.mrnaCoord_2=502;refseq.name2_1=ROR1;refseq.name2_2=ROR1;refseq.name_1=NM_001083592;refseq.name_2=NM_005012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S35A;refseq.proteinCoordStr_2=p.S35A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=64247576;refseq.start_2=64247576;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/0 chr1 64287967 . C T 338.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.54;MQ0=0;OQ=5821.93;QD=41.88;RankSumP=1.00000;SB=-2848.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.180C>T;refseq.codingCoordStr_2=c.180C>T;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.end_1=64287967;refseq.end_2=64287967;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=579;refseq.mrnaCoord_2=579;refseq.name2_1=ROR1;refseq.name2_2=ROR1;refseq.name_1=NM_001083592;refseq.name_2=NM_005012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L60L;refseq.proteinCoordStr_2=p.L60L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=64287967;refseq.start_2=64287967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr1 64380917 . G T 254.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=98.86;MQ0=0;OQ=4871.40;QD=39.60;RankSumP=1.00000;SB=-2371.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1170G>T;refseq.codingCoordStr_2=c.1170G>T;refseq.codonCoord_1=390;refseq.codonCoord_2=390;refseq.end_1=64380917;refseq.end_2=64380917;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1569;refseq.mrnaCoord_2=1569;refseq.name2_1=ROR1;refseq.name2_2=ROR1;refseq.name_1=NM_001083592;refseq.name_2=NM_005012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A390A;refseq.proteinCoordStr_2=p.A390A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=242;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=64380917;refseq.start_2=64380917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr1 64397430 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=559;Dels=0.00;HRun=1;HaplotypeScore=5.07;MQ=98.73;MQ0=0;OQ=11854.39;QD=21.21;RankSumP=0.307908;SB=-4106.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1353A>G;refseq.codonCoord=451;refseq.end=64397430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1752;refseq.name=NM_005012;refseq.name2=ROR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V451V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-34;refseq.start=64397430;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 64415865 . C T 250.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=98.85;MQ0=0;OQ=2240.33;QD=17.64;RankSumP=0.0876082;SB=-652.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1553C>T;refseq.codonCoord=518;refseq.end=64415865;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1952;refseq.name=NM_005012;refseq.name2=ROR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T518M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=167;refseq.start=64415865;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 64416381 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2069T>C;refseq.codonCoord=690;refseq.end=64416381;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2468;refseq.name=NM_005012;refseq.name2=ROR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L690P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=683;refseq.start=64416381;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 64870897 . G A 263.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=9.59;MQ=98.77;MQ0=0;OQ=5541.98;QD=19.86;RankSumP=0.359604;SB=-2180.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.519G>A;refseq.codonCoord=173;refseq.end=64870897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_020925;refseq.name2=CACHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P173P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=28;refseq.start=64870897;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr1 64886156 . T C 310.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=98.78;MQ0=0;OQ=8144.17;QD=38.06;RankSumP=1.00000;SB=-3978.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1088T>C;refseq.codonCoord=363;refseq.end=64886156;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1193;refseq.name=NM_020925;refseq.name2=CACHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M363T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=85;refseq.start=64886156;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 64917924 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=1.05340e-09;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3150A>G;refseq.codonCoord=1050;refseq.end=64917924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3255;refseq.name=NM_020925;refseq.name2=CACHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1050G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=59;refseq.start=64917924;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 64919583 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3308A>C;refseq.codonCoord=1103;refseq.end=64919583;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3413;refseq.name=NM_020925;refseq.name2=CACHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1103A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-24;refseq.start=64919583;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 64929708 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=400;Dels=0.00;HRun=0;HaplotypeScore=11.72;MQ=98.79;MQ0=0;OQ=6801.91;QD=17.00;RankSumP=0.468438;SB=-2535.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3548C>G;refseq.codonCoord=1183;refseq.end=64929708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3653;refseq.name=NM_020925;refseq.name2=CACHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1183R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=115;refseq.start=64929708;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr1 65083802 . G C 235.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=2063.71;QD=17.20;RankSumP=0.0913991;SB=-492.83;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2097C>G;refseq.codonCoord=699;refseq.end=65083802;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2346;refseq.name=NM_002227;refseq.name2=JAK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A699A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-19;refseq.start=65083802;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr1 65093838 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.98;MQ0=0;OQ=1310.45;QD=14.72;RankSumP=0.126292;SB=-631.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1590C>T;refseq.codonCoord=530;refseq.end=65093838;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1839;refseq.name=NM_002227;refseq.name2=JAK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I530I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-59;refseq.start=65093838;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 65107683 . T C 141.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=2;HaplotypeScore=5.05;MQ=98.79;MQ0=0;OQ=5800.28;QD=18.83;RankSumP=0.0201248;SB=-2332.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.546A>G;refseq.codonCoord=182;refseq.end=65107683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_002227;refseq.name2=JAK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G182G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=63;refseq.start=65107683;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr1 65457136 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=276;Dels=0.00;HRun=2;HaplotypeScore=7.47;MQ=69.03;MQ0=125;OQ=2770.68;QD=10.04;RankSumP=0.195058;SB=-1406.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.377G>C;refseq.codingCoordStr_2=c.377G>C;refseq.codingCoordStr_3=c.377G>C;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.codonCoord_3=126;refseq.end_1=65457136;refseq.end_2=65457136;refseq.end_3=65457136;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=582;refseq.mrnaCoord_3=624;refseq.name2_1=AK3L1;refseq.name2_2=AK3L1;refseq.name2_3=AK3L1;refseq.name_1=NM_001005353;refseq.name_2=NM_013410;refseq.name_3=NM_203464;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R126P;refseq.proteinCoordStr_2=p.R126P;refseq.proteinCoordStr_3=p.R126P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=65457136;refseq.start_2=65457136;refseq.start_3=65457136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 0/1 chr1 65831101 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=1;HaplotypeScore=16.25;MQ=98.94;MQ0=0;OQ=4882.80;QD=16.61;RankSumP=0.389835;SB=-1714.68;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.668A>G;refseq.codingCoordStr_2=c.668A>G;refseq.codingCoordStr_3=c.668A>G;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.codonCoord_3=223;refseq.end_1=65831101;refseq.end_2=65831101;refseq.end_3=65831101;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=940;refseq.mrnaCoord_2=940;refseq.mrnaCoord_3=940;refseq.name2_1=LEPR;refseq.name2_2=LEPR;refseq.name2_3=LEPR;refseq.name_1=NM_001003679;refseq.name_2=NM_001003680;refseq.name_3=NM_002303;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q223R;refseq.proteinCoordStr_2=p.Q223R;refseq.proteinCoordStr_3=p.Q223R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=65831101;refseq.start_2=65831101;refseq.start_3=65831101;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr1 65839697 . T C 213.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=98.76;MQ0=0;OQ=4126.22;QD=18.34;RankSumP=0.0957636;SB=-1575.96;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1029T>C;refseq.codingCoordStr_2=c.1029T>C;refseq.codingCoordStr_3=c.1029T>C;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.codonCoord_3=343;refseq.end_1=65839697;refseq.end_2=65839697;refseq.end_3=65839697;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1301;refseq.mrnaCoord_3=1301;refseq.name2_1=LEPR;refseq.name2_2=LEPR;refseq.name2_3=LEPR;refseq.name_1=NM_001003679;refseq.name_2=NM_001003680;refseq.name_3=NM_002303;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S343S;refseq.proteinCoordStr_2=p.S343S;refseq.proteinCoordStr_3=p.S343S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=65839697;refseq.start_2=65839697;refseq.start_3=65839697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/0 chr1 66603958 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=98.78;MQ0=0;OQ=2666.96;QD=16.07;RankSumP=0.0412149;SB=-266.85;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.789G>A;refseq.codingCoordStr_2=c.1260G>A;refseq.codingCoordStr_3=c.1305G>A;refseq.codingCoordStr_4=c.1305G>A;refseq.codonCoord_1=263;refseq.codonCoord_2=420;refseq.codonCoord_3=435;refseq.codonCoord_4=435;refseq.end_1=66603958;refseq.end_2=66603958;refseq.end_3=66603958;refseq.end_4=66603958;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1069;refseq.mrnaCoord_2=1460;refseq.mrnaCoord_3=1496;refseq.mrnaCoord_4=1451;refseq.name2_1=PDE4B;refseq.name2_2=PDE4B;refseq.name2_3=PDE4B;refseq.name2_4=PDE4B;refseq.name_1=NM_001037339;refseq.name_2=NM_001037340;refseq.name_3=NM_001037341;refseq.name_4=NM_002600;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E263E;refseq.proteinCoordStr_2=p.E420E;refseq.proteinCoordStr_3=p.E435E;refseq.proteinCoordStr_4=p.E435E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=66603958;refseq.start_2=66603958;refseq.start_3=66603958;refseq.start_4=66603958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr1 66920284 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1254.05;QD=21.26;RankSumP=0.655570;SB=-543.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.959C>T;refseq.codonCoord=320;refseq.end=66920284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_032291;refseq.name2=SGIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P320L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=145;refseq.start=66920284;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 66927438 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1335A>C;refseq.codonCoord=445;refseq.end=66927438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1552;refseq.name=NM_032291;refseq.name2=SGIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R445R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=20;refseq.start=66927438;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr1 67008685 . A T 324.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=528;Dels=0.00;HRun=0;HaplotypeScore=10.53;MQ=98.62;MQ0=0;OQ=9654.52;QD=18.29;RankSumP=0.312705;SB=-2956.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.147A>T;refseq.codonCoord=49;refseq.end=67008685;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_152665;refseq.name2=TCTEX1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E49D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=28;refseq.start=67008685;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 67014675 . G A 290.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.91;MQ0=0;OQ=4443.82;QD=22.33;RankSumP=0.319434;SB=-1729.64;SecondBestBaseQ=33;refseq.chr=chr1;refseq.codingCoordStr=c.336+1;refseq.end=67014675;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_152665;refseq.name2=TCTEX1D1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=67014675;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr1 67015612 . C A 224.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.91;MQ0=0;OQ=4371.29;QD=19.43;RankSumP=0.295656;SB=-1277.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.427C>A;refseq.codonCoord=143;refseq.end=67015612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=558;refseq.name=NM_152665;refseq.name2=TCTEX1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L143I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=91;refseq.start=67015612;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 67039344 . T A 266.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.88;MQ0=0;OQ=16153.80;QD=38.65;RankSumP=1.00000;SB=-6841.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.149A>T;refseq.codonCoord=50;refseq.end=67039344;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_005478;refseq.name2=INSL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q50L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-27;refseq.start=67039344;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 67060633 . C T 337.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=9.60;MQ=99.01;MQ0=0;OQ=6332.46;QD=17.79;RankSumP=0.421031;SB=-1422.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2495G>A;refseq.codonCoord=832;refseq.end=67060633;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2551;refseq.name=NM_024763;refseq.name2=WDR78;refseq.positionType=CDS;refseq.proteinCoordStr=p.R832Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=67060633;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 67163004 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=131;Dels=0.01;HRun=1;HaplotypeScore=16.45;MQ=98.68;MQ0=0;OQ=1412.05;QD=10.78;RankSumP=0.415084;SB=-419.25;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.99C>G;refseq.codingCoordStr_2=c.99C>G;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=67163004;refseq.end_2=67163004;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=155;refseq.name2_1=WDR78;refseq.name2_2=WDR78;refseq.name_1=NM_024763;refseq.name_2=NM_207014;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C33W;refseq.proteinCoordStr_2=p.C33W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=67163004;refseq.start_2=67163004;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr1 67163056 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=97.07;MQ0=0;OQ=1183.61;QD=11.06;RankSumP=0.178709;SB=-496.66;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.47G>C;refseq.codingCoordStr_2=c.47G>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=67163056;refseq.end_2=67163056;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=103;refseq.mrnaCoord_2=103;refseq.name2_1=WDR78;refseq.name2_2=WDR78;refseq.name_1=NM_024763;refseq.name_2=NM_207014;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G16A;refseq.proteinCoordStr_2=p.G16A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.start_1=67163056;refseq.start_2=67163056;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr1 67331327 . C T 99.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.89;MQ0=0;OQ=1800.85;QD=14.07;RankSumP=0.0807533;SB=-452.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1152G>A;refseq.codonCoord=384;refseq.end=67331327;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1263;refseq.name=NM_001013674;refseq.name2=C1orf141;refseq.positionType=CDS;refseq.proteinCoordStr=p.T384T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=549;refseq.start=67331327;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 67333544 . C T 263.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=3.47;MQ=98.88;MQ0=0;OQ=4259.86;QD=19.54;RankSumP=0.412081;SB=-1434.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.565G>A;refseq.codonCoord=189;refseq.end=67333544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_001013674;refseq.name2=C1orf141;refseq.positionType=CDS;refseq.proteinCoordStr=p.V189I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-39;refseq.start=67333544;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 67406400 . G T 148.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=15.59;MQ=98.87;MQ0=0;OQ=15628.11;QD=39.37;RankSumP=1.00000;SB=-3766.14;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.9G>T;refseq.codonCoord=3;refseq.end=67406400;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_144701;refseq.name2=IL23R;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=38;refseq.start=67406400;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 67407653 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.111A>C;refseq.codonCoord=37;refseq.end=67407653;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_144701;refseq.name2=IL23R;refseq.positionType=CDS;refseq.proteinCoordStr=p.E37D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=41;refseq.start=67407653;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr1 67457975 . T C 213.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=8.31;MQ=98.86;MQ0=0;OQ=11552.71;QD=37.39;RankSumP=1.00000;SB=-4862.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.929T>C;refseq.codonCoord=310;refseq.end=67457975;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_144701;refseq.name2=IL23R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L310P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-27;refseq.start=67457975;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 67567907 . T C 91.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=1;HaplotypeScore=12.51;MQ=98.92;MQ0=0;OQ=13504.09;QD=38.47;RankSumP=1.00000;SB=-6036.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.714T>C;refseq.codonCoord=238;refseq.end=67567907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_001559;refseq.name2=IL12RB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S238S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=50;refseq.start=67567907;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 68376174 . C T 136.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=21.00;MQ=98.93;MQ0=0;OQ=7313.73;QD=21.45;RankSumP=0.0699171;SB=-2746.19;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1393G>A;refseq.codingCoordStr_2=c.1393G>A;refseq.codonCoord_1=465;refseq.codonCoord_2=465;refseq.end_1=68376174;refseq.end_2=68376174;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1677;refseq.mrnaCoord_2=1677;refseq.name2_1=WLS;refseq.name2_2=WLS;refseq.name_1=NM_001002292;refseq.name_2=NM_024911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V465I;refseq.proteinCoordStr_2=p.V465I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=68376174;refseq.start_2=68376174;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr1 68397466 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=26.44;MQ=98.94;MQ0=0;OQ=10508.20;QD=22.60;RankSumP=0.275219;SB=-3015.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.432G>A;refseq.codingCoordStr_2=c.432G>A;refseq.codonCoord_1=144;refseq.codonCoord_2=144;refseq.end_1=68397466;refseq.end_2=68397466;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=716;refseq.mrnaCoord_2=716;refseq.name2_1=WLS;refseq.name2_2=WLS;refseq.name_1=NM_001002292;refseq.name_2=NM_024911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A144A;refseq.proteinCoordStr_2=p.A144A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=68397466;refseq.start_2=68397466;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr1 68669817 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1168A>C;refseq.codonCoord=390;refseq.end=68669817;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_000329;refseq.name2=RPE65;refseq.positionType=CDS;refseq.proteinCoordStr=p.T390P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=40;refseq.start=68669817;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr1 68732937 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=93;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=78.17;MQ0=25;OQ=1169.73;QD=12.58;RankSumP=0.586586;SB=-437.95;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.78A>G;refseq.codingCoordStr_2=c.78A>G;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=68732937;refseq.end_2=68732937;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=195;refseq.name2_1=DEPDC1;refseq.name2_2=DEPDC1;refseq.name_1=NM_001114120;refseq.name_2=NM_017779;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A26A;refseq.proteinCoordStr_2=p.A26A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=68732937;refseq.start_2=68732937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 70232892 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=337;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.83;MQ0=0;OQ=7899.41;QD=23.44;RankSumP=0.401556;SB=-2880.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.878A>G;refseq.codonCoord=293;refseq.end=70232892;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_020794;refseq.name2=LRRC7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N293S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-13;refseq.start=70232892;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 70277520 . C A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3311C>A;refseq.codonCoord=1104;refseq.end=70277520;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3341;refseq.name=NM_020794;refseq.name2=LRRC7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1104E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-545;refseq.start=70277520;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr1 70277723 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3514T>G;refseq.codonCoord=1172;refseq.end=70277723;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3544;refseq.name=NM_020794;refseq.name2=LRRC7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1172D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-342;refseq.start=70277723;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr1 70384136 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1744G>C;refseq.codonCoord=582;refseq.end=70384136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1796;refseq.name=NM_017768;refseq.name2=LRRC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.A582P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=41;refseq.start=70384136;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 70470600 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.399T>G;refseq.codonCoord=133;refseq.end=70470600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_004768;refseq.name2=SFRS11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G133G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-49;refseq.start=70470600;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 71104018 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=61.88;MQ=98.55;MQ0=0;OQ=8188.18;QD=20.84;RankSumP=0.112466;SB=-2004.92;SecondBestBaseQ=30;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.end_1=71192023;refseq.end_2=71192023;refseq.end_3=71250565;refseq.end_4=71107504;refseq.end_5=71107504;refseq.end_6=71104018;refseq.haplotypeAlternate_6=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_6=1422;refseq.name2_1=PTGER3;refseq.name2_2=PTGER3;refseq.name2_3=PTGER3;refseq.name2_4=PTGER3;refseq.name2_5=PTGER3;refseq.name2_6=PTGER3;refseq.name_1=NM_198714;refseq.name_2=NM_198716;refseq.name_3=NM_198717;refseq.name_4=NR_028292;refseq.name_5=NR_028293;refseq.name_6=NR_028294;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=non_coding_exon;refseq.spliceDist_6=-59;refseq.start_1=71091141;refseq.start_2=71091141;refseq.start_3=71091141;refseq.start_4=71100679;refseq.start_5=71100679;refseq.start_6=71104018;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;set=soap-filterIngatk GT 1/0 chr1 71104086 . A G 105.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=158;Dels=0.00;HRun=2;HaplotypeScore=2.27;MQ=98.98;MQ0=0;OQ=5681.79;QD=35.96;RankSumP=1.00000;SB=-1425.70;SecondBestBaseQ=0;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.end_1=71192023;refseq.end_2=71192023;refseq.end_3=71250565;refseq.end_4=71107504;refseq.end_5=71107504;refseq.end_6=71104086;refseq.haplotypeAlternate_6=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_6=1354;refseq.name2_1=PTGER3;refseq.name2_2=PTGER3;refseq.name2_3=PTGER3;refseq.name2_4=PTGER3;refseq.name2_5=PTGER3;refseq.name2_6=PTGER3;refseq.name_1=NM_198714;refseq.name_2=NM_198716;refseq.name_3=NM_198717;refseq.name_4=NR_028292;refseq.name_5=NR_028293;refseq.name_6=NR_028294;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=non_coding_exon;refseq.spliceDist_6=19;refseq.start_1=71091141;refseq.start_2=71091141;refseq.start_3=71091141;refseq.start_4=71100679;refseq.start_5=71100679;refseq.start_6=71104086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;set=Intersection GT 1/1 chr1 71212615 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.chr_9=chr1;refseq.codingCoordStr_7=c.1122A>C;refseq.codingCoordStr_8=c.1122A>C;refseq.codingCoordStr_9=c.1122A>C;refseq.codonCoord_7=374;refseq.codonCoord_8=374;refseq.codonCoord_9=374;refseq.end_1=71250565;refseq.end_2=71250565;refseq.end_3=71250565;refseq.end_4=71250565;refseq.end_5=71250565;refseq.end_6=71250565;refseq.end_7=71212615;refseq.end_8=71212615;refseq.end_9=71212615;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_7=1353;refseq.mrnaCoord_8=1353;refseq.mrnaCoord_9=1353;refseq.name2_1=PTGER3;refseq.name2_2=PTGER3;refseq.name2_3=PTGER3;refseq.name2_4=PTGER3;refseq.name2_5=PTGER3;refseq.name2_6=PTGER3;refseq.name2_7=PTGER3;refseq.name2_8=PTGER3;refseq.name2_9=PTGER3;refseq.name_1=NM_198717;refseq.name_2=NR_028293;refseq.name_3=NM_198716;refseq.name_4=NM_198718;refseq.name_5=NR_028292;refseq.name_6=NR_028294;refseq.name_7=NM_001126044;refseq.name_8=NM_198714;refseq.name_9=NM_198719;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=non_coding_intron;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_7=p.L374F;refseq.proteinCoordStr_8=p.L374F;refseq.proteinCoordStr_9=p.L374F;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceAA_9=Leu;refseq.referenceCodon_7=TTA;refseq.referenceCodon_8=TTA;refseq.referenceCodon_9=TTA;refseq.spliceDist_7=45;refseq.spliceDist_8=45;refseq.spliceDist_9=45;refseq.start_1=71091141;refseq.start_2=71107601;refseq.start_3=71192071;refseq.start_4=71192071;refseq.start_5=71192071;refseq.start_6=71192071;refseq.start_7=71212615;refseq.start_8=71212615;refseq.start_9=71212615;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_7=Phe;refseq.variantAA_8=Phe;refseq.variantAA_9=Phe;refseq.variantCodon_7=TTC;refseq.variantCodon_8=TTC;refseq.variantCodon_9=TTC;set=FilteredInAll GT 1/0 chr1 71831140 . G A 304.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=6.50;MQ=98.99;MQ0=0;OQ=8117.06;QD=38.65;RankSumP=1.00000;SB=-2814.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.888C>T;refseq.codonCoord=296;refseq.end=71831140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_173808;refseq.name2=NEGR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T296T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-53;refseq.start=71831140;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 72520713 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.53C>G;refseq.codonCoord=18;refseq.end=72520713;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_173808;refseq.name2=NEGR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-124;refseq.start=72520713;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 74347770 . C T 78.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.71;MQ0=0;OQ=4327.25;QD=42.01;RankSumP=1.00000;SB=-1415.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.763G>A;refseq.codonCoord=255;refseq.end=74347770;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_001105659;refseq.name2=LRRIQ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A255T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=56;refseq.start=74347770;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 74438081 . G A 247.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=540;Dels=0.00;HRun=0;HaplotypeScore=12.20;MQ=98.61;MQ0=0;OQ=9916.61;QD=18.36;RankSumP=0.0515201;SB=-3712.82;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.228G>A;refseq.codingCoordStr_2=c.228G>A;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=74438081;refseq.end_2=74438081;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=244;refseq.mrnaCoord_2=265;refseq.name2_1=TNNI3K;refseq.name2_2=FPGT;refseq.name_1=NM_001112808;refseq.name_2=NM_003838;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V76V;refseq.proteinCoordStr_2=p.V76V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=74438081;refseq.start_2=74438081;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr1 74442760 . A G 170.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1707.10;QD=14.47;RankSumP=0.370196;SB=-839.47;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.441A>G;refseq.codonCoord_2=147;refseq.end_1=74474363;refseq.end_2=74442760;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=478;refseq.name2_1=TNNI3K;refseq.name2_2=FPGT;refseq.name_1=NM_001112808;refseq.name_2=NM_003838;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K147K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=98;refseq.start_1=74439693;refseq.start_2=74442760;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr1 74443662 . C T 123.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=18.25;MQ=98.79;MQ0=0;OQ=6768.70;QD=21.29;RankSumP=0.000121960;SB=-2670.17;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1343C>T;refseq.codonCoord_2=448;refseq.end_1=74474363;refseq.end_2=74443662;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1380;refseq.name2_1=TNNI3K;refseq.name2_2=FPGT;refseq.name_1=NM_001112808;refseq.name_2=NM_003838;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P448L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=1000;refseq.start_1=74439693;refseq.start_2=74443662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=filterInsoap-gatk GT 0/1 chr1 74592336 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1415G>T;refseq.codingCoordStr_2=c.1112G>T;refseq.codonCoord_1=472;refseq.codonCoord_2=371;refseq.end_1=74592336;refseq.end_2=74592336;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1431;refseq.mrnaCoord_2=1163;refseq.name2_1=TNNI3K;refseq.name2_2=TNNI3K;refseq.name_1=NM_001112808;refseq.name_2=NM_015978;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C472F;refseq.proteinCoordStr_2=p.C371F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=74592336;refseq.start_2=74592336;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr1 74809400 . C T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=592;Dels=0.00;HRun=0;HaplotypeScore=18.19;MQ=98.69;MQ0=0;OQ=24804.92;QD=41.90;RankSumP=1.00000;SB=-7815.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4582G>A;refseq.codonCoord=1528;refseq.end=74809400;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4801;refseq.name=NM_001002912;refseq.name2=C1orf173;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1528M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-30;refseq.start=74809400;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 74809963 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4019T>G;refseq.codonCoord=1340;refseq.end=74809963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4238;refseq.name=NM_001002912;refseq.name2=C1orf173;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1340G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-593;refseq.start=74809963;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 74810433 . A G 134.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=579;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=98.77;MQ0=0;OQ=8637.45;QD=14.92;RankSumP=0.397383;SB=-2303.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3549T>C;refseq.codonCoord=1183;refseq.end=74810433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3768;refseq.name=NM_001002912;refseq.name2=C1orf173;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1183S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1063;refseq.start=74810433;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 74810816 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=471;Dels=0.00;HRun=0;HaplotypeScore=18.27;MQ=98.90;MQ0=0;OQ=10901.54;QD=23.15;RankSumP=0.305954;SB=-4743.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3166T>G;refseq.codonCoord=1056;refseq.end=74810816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3385;refseq.name=NM_001002912;refseq.name2=C1orf173;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1056V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=948;refseq.start=74810816;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 74870014 . G C 128.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=98.40;MQ0=0;OQ=7157.76;QD=25.75;RankSumP=0.481032;SB=-2522.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.790C>G;refseq.codonCoord=264;refseq.end=74870014;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_001002912;refseq.name2=C1orf173;refseq.positionType=CDS;refseq.proteinCoordStr=p.P264A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-30;refseq.start=74870014;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 74945240 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=658;Dels=0.00;HRun=0;HaplotypeScore=15.69;MQ=98.57;MQ0=0;OQ=14798.45;QD=22.49;RankSumP=0.462434;SB=-5521.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.759A>G;refseq.codingCoordStr_2=c.657A>G;refseq.codingCoordStr_3=c.348A>G;refseq.codingCoordStr_4=c.759A>G;refseq.codonCoord_1=253;refseq.codonCoord_2=219;refseq.codonCoord_3=116;refseq.codonCoord_4=253;refseq.end_1=74945240;refseq.end_2=74945240;refseq.end_3=74945240;refseq.end_4=74945240;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1264;refseq.mrnaCoord_2=1123;refseq.mrnaCoord_3=937;refseq.mrnaCoord_4=1225;refseq.name2_1=CRYZ;refseq.name2_2=CRYZ;refseq.name2_3=CRYZ;refseq.name2_4=CRYZ;refseq.name_1=NM_001130042;refseq.name_2=NM_001130043;refseq.name_3=NM_001134759;refseq.name_4=NM_001889;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E253E;refseq.proteinCoordStr_2=p.E219E;refseq.proteinCoordStr_3=p.E116E;refseq.proteinCoordStr_4=p.E253E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=74945240;refseq.start_2=74945240;refseq.start_3=74945240;refseq.start_4=74945240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 1/0 chr1 74961427 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.227T>G;refseq.codingCoordStr_2=c.227T>G;refseq.codingCoordStr_3=c.-21T>G;refseq.codingCoordStr_4=c.227T>G;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.codonCoord_4=76;refseq.end_1=74961427;refseq.end_2=74961427;refseq.end_3=74961427;refseq.end_4=74961427;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=693;refseq.mrnaCoord_3=569;refseq.mrnaCoord_4=693;refseq.name2_1=CRYZ;refseq.name2_2=CRYZ;refseq.name2_3=CRYZ;refseq.name2_4=CRYZ;refseq.name_1=NM_001130042;refseq.name_2=NM_001130043;refseq.name_3=NM_001134759;refseq.name_4=NM_001889;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V76G;refseq.proteinCoordStr_2=p.V76G;refseq.proteinCoordStr_4=p.V76G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=-38;refseq.start_1=74961427;refseq.start_2=74961427;refseq.start_3=74961427;refseq.start_4=74961427;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr1 74963040 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=463;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.62;MQ0=0;OQ=8581.27;QD=18.53;RankSumP=0.00499520;SB=-3610.30;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.54G>A;refseq.codingCoordStr_3=c.54G>A;refseq.codingCoordStr_4=c.54G>A;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.codonCoord_4=18;refseq.end_1=74971217;refseq.end_2=74963040;refseq.end_3=74963040;refseq.end_4=74963040;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=559;refseq.mrnaCoord_3=520;refseq.mrnaCoord_4=520;refseq.name2_1=CRYZ;refseq.name2_2=CRYZ;refseq.name2_3=CRYZ;refseq.name2_4=CRYZ;refseq.name_1=NM_001134759;refseq.name_2=NM_001130042;refseq.name_3=NM_001130043;refseq.name_4=NM_001889;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G18G;refseq.proteinCoordStr_3=p.G18G;refseq.proteinCoordStr_4=p.G18G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.start_1=74961553;refseq.start_2=74963040;refseq.start_3=74963040;refseq.start_4=74963040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=filterInsoap-gatk GT 0/1 chr1 75444964 . A G 144.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=1;HaplotypeScore=9.50;MQ=98.89;MQ0=0;OQ=8609.16;QD=18.09;RankSumP=0.409307;SB=-2613.66;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2076T>C;refseq.codonCoord_2=692;refseq.end_1=75449730;refseq.end_2=75444964;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2220;refseq.name2_1=SLC44A5;refseq.name2_2=SLC44A5;refseq.name_1=NM_001130058;refseq.name_2=NM_152697;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S692S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=29;refseq.start_1=75442117;refseq.start_2=75444964;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr1 75454099 . T C 418.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.28;MQ0=0;OQ=5663.02;QD=41.95;RankSumP=1.00000;SB=-2761.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1656A>G;refseq.codingCoordStr_2=c.1656A>G;refseq.codonCoord_1=552;refseq.codonCoord_2=552;refseq.end_1=75454099;refseq.end_2=75454099;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1800;refseq.mrnaCoord_2=1800;refseq.name2_1=SLC44A5;refseq.name2_2=SLC44A5;refseq.name_1=NM_001130058;refseq.name_2=NM_152697;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q552Q;refseq.proteinCoordStr_2=p.Q552Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=75454099;refseq.start_2=75454099;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr1 75489513 . C T 262.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=98.75;MQ0=0;OQ=11905.57;QD=40.22;RankSumP=1.00000;SB=-5689.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.315G>A;refseq.codingCoordStr_2=c.315G>A;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.end_1=75489513;refseq.end_2=75489513;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=459;refseq.mrnaCoord_2=459;refseq.name2_1=SLC44A5;refseq.name2_2=SLC44A5;refseq.name_1=NM_001130058;refseq.name_2=NM_152697;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V105V;refseq.proteinCoordStr_2=p.V105V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=75489513;refseq.start_2=75489513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr1 75999610 . A G 170.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=5.63;MQ=98.93;MQ0=0;OQ=5657.87;QD=20.21;RankSumP=3.89606e-08;SB=-2090.77;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1161A>G;refseq.codingCoordStr_2=c.1173A>G;refseq.codonCoord_1=387;refseq.codonCoord_2=391;refseq.end_1=75999610;refseq.end_2=75999610;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1591;refseq.mrnaCoord_2=1603;refseq.name2_1=ACADM;refseq.name2_2=ACADM;refseq.name_1=NM_000016;refseq.name_2=NM_001127328;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V387V;refseq.proteinCoordStr_2=p.V391V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=75999610;refseq.start_2=75999610;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 0/1 chr1 76027816 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=1978.34;QD=19.02;RankSumP=0.428112;SB=-430.07;SecondBestBaseQ=33;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.end_1=76028214;refseq.end_2=76027816;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=67;refseq.name2_1=RABGGTB;refseq.name2_2=SNORD45B;refseq.name_1=NM_004582;refseq.name_2=NR_002748;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=76027640;refseq.start_2=76027816;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr1 76030480 . A T 423.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.04;MQ0=0;OQ=3486.29;QD=40.54;RankSumP=1.00000;SB=-1308.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.606A>T;refseq.codonCoord=202;refseq.end=76030480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_004582;refseq.name2=RABGGTB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A202A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=27;refseq.start=76030480;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 76117293 . T C 371.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7120.99;QD=39.34;RankSumP=1.00000;SB=-3318.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1569T>C;refseq.codonCoord=523;refseq.end=76117293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_002440;refseq.name2=MSH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y523Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=29;refseq.start=76117293;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 76117299 . A T 317.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7237.66;QD=41.12;RankSumP=1.00000;SB=-3254.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1575A>T;refseq.codonCoord=525;refseq.end=76117299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1616;refseq.name=NM_002440;refseq.name2=MSH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L525L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=35;refseq.start=76117299;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr1 76170560 . C T 277.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.77;MQ0=0;OQ=6660.03;QD=43.82;RankSumP=1.00000;SB=-2183.30;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.5G>A;refseq.codonCoord_2=2;refseq.end_1=76170560;refseq.end_2=76170560;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=145;refseq.mrnaCoord_2=145;refseq.name2_1=ASB17;refseq.name2_2=ASB17;refseq.name_1=NR_026546;refseq.name_2=NM_080868;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S2N;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.start_1=76170560;refseq.start_2=76170560;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr1 76865768 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=864;Dels=0.00;HRun=0;HaplotypeScore=22.59;MQ=98.85;MQ0=0;OQ=14583.09;QD=16.88;RankSumP=0.0940414;SB=-5467.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.667C>A;refseq.codonCoord=223;refseq.end=76865768;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_152996;refseq.name2=ST6GALNAC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L223I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=44;refseq.start=76865768;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 77288565 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.706T>G;refseq.codonCoord=236;refseq.end=77288565;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_030965;refseq.name2=ST6GALNAC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F236V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=35;refseq.start=77288565;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr1 77407536 . G A 299.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=5848.38;QD=42.38;RankSumP=1.00000;SB=-1294.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.372C>T;refseq.codonCoord=124;refseq.end=77407536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_005482;refseq.name2=PIGK;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y124Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=77407536;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 77532166 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.54;MQ0=0;OQ=1917.23;QD=13.69;RankSumP=0.229518;SB=-877.31;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.270A>G;refseq.codingCoordStr_2=c.348A>G;refseq.codonCoord_1=90;refseq.codonCoord_2=116;refseq.end_1=77532166;refseq.end_2=77532166;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1296;refseq.mrnaCoord_2=605;refseq.name2_1=AK5;refseq.name2_2=AK5;refseq.name_1=NM_012093;refseq.name_2=NM_174858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A90A;refseq.proteinCoordStr_2=p.A116A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=77532166;refseq.start_2=77532166;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr1 77536130 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=3;HaplotypeScore=0.89;MQ=98.89;MQ0=0;OQ=8777.86;QD=43.03;RankSumP=1.00000;SB=-2122.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.531G>A;refseq.codingCoordStr_2=c.609G>A;refseq.codonCoord_1=177;refseq.codonCoord_2=203;refseq.end_1=77536130;refseq.end_2=77536130;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1557;refseq.mrnaCoord_2=866;refseq.name2_1=AK5;refseq.name2_2=AK5;refseq.name_1=NM_012093;refseq.name_2=NM_174858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K177K;refseq.proteinCoordStr_2=p.K203K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=77536130;refseq.start_2=77536130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr1 77871620 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8C>G;refseq.codonCoord=3;refseq.end=77871620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_015534;refseq.name2=ZZZ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=59;refseq.start=77871620;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 78165034 . G A 218.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1667.63;QD=20.09;RankSumP=0.239474;SB=-643.64;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.541G>A;refseq.codingCoordStr_2=c.733G>A;refseq.codonCoord_1=181;refseq.codonCoord_2=245;refseq.end_1=78165034;refseq.end_2=78165034;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=838;refseq.mrnaCoord_2=1030;refseq.name2_1=NEXN;refseq.name2_2=NEXN;refseq.name_1=NM_001172309;refseq.name_2=NM_144573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G181R;refseq.proteinCoordStr_2=p.G245R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=78165034;refseq.start_2=78165034;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr1 78357674 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=99.00;MQ0=0;OQ=2179.47;QD=11.18;RankSumP=0.415495;SB=-464.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.617T>C;refseq.codonCoord=206;refseq.end=78357674;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_017655;refseq.name2=GIPC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=78357674;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 78731079 . C T 165.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=6.31;MQ=98.73;MQ0=0;OQ=3984.48;QD=19.53;RankSumP=0.00418101;SB=-1498.44;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.63C>T;refseq.codingCoordStr_2=c.63C>T;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=78731079;refseq.end_2=78731079;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_2=329;refseq.name2_1=PTGFR;refseq.name2_2=PTGFR;refseq.name_1=NM_000959;refseq.name_2=NM_001039585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T21T;refseq.proteinCoordStr_2=p.T21T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=78731079;refseq.start_2=78731079;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=filterInsoap-gatk GT 0/1 chr1 78866406 . A G 308.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.85;MQ0=0;OQ=2357.91;QD=19.17;RankSumP=0.337897;SB=-1095.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.218A>G;refseq.codonCoord=73;refseq.end=78866406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_006820;refseq.name2=IFI44L;refseq.positionType=CDS;refseq.proteinCoordStr=p.H73R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=228;refseq.start=78866406;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 78868169 . T C 330.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=3.92;MQ=98.79;MQ0=0;OQ=8111.84;QD=41.81;RankSumP=1.00000;SB=-2454.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.704T>C;refseq.codonCoord=235;refseq.end=78868169;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_006820;refseq.name2=IFI44L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I235T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-20;refseq.start=78868169;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 78879728 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.58;MQ0=0;OQ=1636.22;QD=12.40;RankSumP=0.201364;SB=-483.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1170G>T;refseq.codonCoord=390;refseq.end=78879728;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_006820;refseq.name2=IFI44L;refseq.positionType=CDS;refseq.proteinCoordStr=p.M390I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=21;refseq.start=78879728;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 79129948 . G C 101.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=98.79;MQ0=0;OQ=6597.90;QD=25.67;RankSumP=0.449298;SB=-2094.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1859C>G;refseq.codonCoord=620;refseq.end=79129948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2015;refseq.name=NM_022159;refseq.name2=ELTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A620G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=18;refseq.start=79129948;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 79165344 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=3;HaplotypeScore=4.57;MQ=98.84;MQ0=0;OQ=1880.72;QD=13.43;RankSumP=0.272246;SB=-615.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.898G>T;refseq.codonCoord=300;refseq.end=79165344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1054;refseq.name=NM_022159;refseq.name2=ELTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V300L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=21;refseq.start=79165344;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr1 82194184 . C T 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=625;Dels=0.00;HRun=0;HaplotypeScore=15.38;MQ=98.92;MQ0=0;OQ=26544.32;QD=42.47;RankSumP=1.00000;SB=-12876.83;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1818C>T;refseq.codonCoord=606;refseq.end=82194184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2034;refseq.name=NM_012302;refseq.name2=LPHN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P606P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=36;refseq.start=82194184;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 84717577 . A G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=291.21;QD=29.12;RankSumP=1.00000;SB=-93.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.25A>G;refseq.codonCoord=9;refseq.end=84717577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_025065;refseq.name2=RPF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S9G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=70;refseq.start=84717577;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 84804145 . C G 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=1;RankSumP=0.000649371;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*84C>G;refseq.codingCoordStr_2=c.664G>C;refseq.codonCoord_2=222;refseq.end_1=84804145;refseq.end_2=84804145;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1663;refseq.mrnaCoord_2=729;refseq.name2_1=SPATA1;refseq.name2_2=CTBS;refseq.name_1=NM_001081472;refseq.name_2=NM_004388;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A222P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=14;refseq.spliceDist_2=-34;refseq.start_1=84804145;refseq.start_2=84804145;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr1 84885791 . T C 303.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.88;MQ0=0;OQ=9496.28;QD=18.92;RankSumP=0.388105;SB=-3276.66;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.1758A>G;refseq.codingCoordStr_2=c.1677A>G;refseq.codingCoordStr_3=c.1677A>G;refseq.codingCoordStr_4=c.1758A>G;refseq.codingCoordStr_5=c.1758A>G;refseq.codonCoord_1=586;refseq.codonCoord_2=559;refseq.codonCoord_3=559;refseq.codonCoord_4=586;refseq.codonCoord_5=586;refseq.end_1=84885791;refseq.end_2=84885791;refseq.end_3=84885791;refseq.end_4=84885791;refseq.end_5=84885791;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2034;refseq.mrnaCoord_2=1902;refseq.mrnaCoord_3=2030;refseq.mrnaCoord_4=2212;refseq.mrnaCoord_5=2084;refseq.name2_1=SSX2IP;refseq.name2_2=SSX2IP;refseq.name2_3=SSX2IP;refseq.name2_4=SSX2IP;refseq.name2_5=SSX2IP;refseq.name_1=NM_001166293;refseq.name_2=NM_001166294;refseq.name_3=NM_001166295;refseq.name_4=NM_001166417;refseq.name_5=NM_014021;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A586A;refseq.proteinCoordStr_2=p.A559A;refseq.proteinCoordStr_3=p.A559A;refseq.proteinCoordStr_4=p.A586A;refseq.proteinCoordStr_5=p.A586A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=88;refseq.spliceDist_4=88;refseq.spliceDist_5=88;refseq.start_1=84885791;refseq.start_2=84885791;refseq.start_3=84885791;refseq.start_4=84885791;refseq.start_5=84885791;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;set=Intersection GT 1/0 chr1 84885817 . A G 314.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=98.79;MQ0=0;OQ=7375.22;QD=17.64;RankSumP=0.427954;SB=-2682.74;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.1732T>C;refseq.codingCoordStr_2=c.1651T>C;refseq.codingCoordStr_3=c.1651T>C;refseq.codingCoordStr_4=c.1732T>C;refseq.codingCoordStr_5=c.1732T>C;refseq.codonCoord_1=578;refseq.codonCoord_2=551;refseq.codonCoord_3=551;refseq.codonCoord_4=578;refseq.codonCoord_5=578;refseq.end_1=84885817;refseq.end_2=84885817;refseq.end_3=84885817;refseq.end_4=84885817;refseq.end_5=84885817;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2008;refseq.mrnaCoord_2=1876;refseq.mrnaCoord_3=2004;refseq.mrnaCoord_4=2186;refseq.mrnaCoord_5=2058;refseq.name2_1=SSX2IP;refseq.name2_2=SSX2IP;refseq.name2_3=SSX2IP;refseq.name2_4=SSX2IP;refseq.name2_5=SSX2IP;refseq.name_1=NM_001166293;refseq.name_2=NM_001166294;refseq.name_3=NM_001166295;refseq.name_4=NM_001166417;refseq.name_5=NM_014021;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.C578R;refseq.proteinCoordStr_2=p.C551R;refseq.proteinCoordStr_3=p.C551R;refseq.proteinCoordStr_4=p.C578R;refseq.proteinCoordStr_5=p.C578R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.referenceCodon_5=TGT;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.spliceDist_4=62;refseq.spliceDist_5=62;refseq.start_1=84885817;refseq.start_2=84885817;refseq.start_3=84885817;refseq.start_4=84885817;refseq.start_5=84885817;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;refseq.variantCodon_5=CGT;set=Intersection GT 0/1 chr1 85177895 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1039T>G;refseq.codonCoord=347;refseq.end=85177895;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1280;refseq.name=NM_153259;refseq.name2=MCOLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y347D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-72;refseq.start=85177895;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr1 85260618 . G A 147.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=4.62;MQ=98.85;MQ0=0;OQ=14075.52;QD=43.58;RankSumP=1.00000;SB=-6962.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1149C>T;refseq.codonCoord=383;refseq.end=85260618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_018298;refseq.name2=MCOLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L383L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-49;refseq.start=85260618;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr1 85362396 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1986G>A;refseq.codonCoord=662;refseq.end=85362396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2177;refseq.name=NM_145172;refseq.name2=WDR63;refseq.positionType=CDS;refseq.proteinCoordStr=p.K662K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=85362396;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr1 85514600 . G C 303.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=97.45;MQ0=0;OQ=4358.58;QD=44.48;RankSumP=1.00000;SB=-1929.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.24C>G;refseq.codonCoord=8;refseq.end=85514600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_003921;refseq.name2=BCL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-34;refseq.start=85514600;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 86148242 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.68;MQ0=0;OQ=3692.09;QD=27.15;RankSumP=0.124058;SB=-1568.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2649G>C;refseq.codonCoord=883;refseq.end=86148242;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2691;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P883P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-22;refseq.start=86148242;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 86285124 . C T 209.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.76;MQ0=0;OQ=5969.33;QD=19.44;RankSumP=0.351430;SB=-2333.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1922G>A;refseq.codonCoord=641;refseq.end=86285124;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R641H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=17;refseq.start=86285124;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 86330555 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.69;MQ0=0;OQ=1821.25;QD=11.53;RankSumP=0.270641;SB=-894.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1636C>T;refseq.codonCoord=546;refseq.end=86330555;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P546S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-18;refseq.start=86330555;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 86363503 . G A 230.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=3.86;MQ=98.95;MQ0=0;OQ=12381.09;QD=42.26;RankSumP=1.00000;SB=-6036.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1104C>T;refseq.codonCoord=368;refseq.end=86363503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S368S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-388;refseq.start=86363503;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 86363536 . A G 341.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.96;MQ0=0;OQ=4688.30;QD=18.03;RankSumP=0.0347515;SB=-1840.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1071T>C;refseq.codonCoord=357;refseq.end=86363536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1113;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S357S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-421;refseq.start=86363536;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 86364425 . G A 260.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5666.03;QD=19.95;RankSumP=0.104293;SB=-2409.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.182C>T;refseq.codonCoord=61;refseq.end=86364425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_152890;refseq.name2=COL24A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A61V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=61;refseq.start=86364425;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 86591160 . T C 168.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.98;MQ0=0;OQ=1728.94;QD=19.87;RankSumP=0.496088;SB=-738.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1383A>G;refseq.codingCoordStr_2=c.1776A>G;refseq.codonCoord_1=461;refseq.codonCoord_2=592;refseq.end_1=86591160;refseq.end_2=86591160;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1990;refseq.mrnaCoord_2=2123;refseq.name2_1=ODF2L;refseq.name2_2=ODF2L;refseq.name_1=NM_001007022;refseq.name_2=NM_020729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E461E;refseq.proteinCoordStr_2=p.E592E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=86591160;refseq.start_2=86591160;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr1 86592855 . C T 231.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=98.75;MQ0=0;OQ=4266.43;QD=21.33;RankSumP=0.418315;SB=-1500.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1233G>A;refseq.codingCoordStr_2=c.1626G>A;refseq.codonCoord_1=411;refseq.codonCoord_2=542;refseq.end_1=86592855;refseq.end_2=86592855;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1840;refseq.mrnaCoord_2=1973;refseq.name2_1=ODF2L;refseq.name2_2=ODF2L;refseq.name_1=NM_001007022;refseq.name_2=NM_020729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E411E;refseq.proteinCoordStr_2=p.E542E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=86592855;refseq.start_2=86592855;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr1 86594819 . A G 162.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=2;HaplotypeScore=7.06;MQ=98.59;MQ0=0;OQ=4780.15;QD=18.31;RankSumP=0.189133;SB=-1798.07;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.934T>C;refseq.codingCoordStr_2=c.1327T>C;refseq.codonCoord_1=312;refseq.codonCoord_2=443;refseq.end_1=86594819;refseq.end_2=86594819;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1541;refseq.mrnaCoord_2=1674;refseq.name2_1=ODF2L;refseq.name2_2=ODF2L;refseq.name_1=NM_001007022;refseq.name_2=NM_020729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L312L;refseq.proteinCoordStr_2=p.L443L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=86594819;refseq.start_2=86594819;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr1 86610746 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=385.93;QD=11.03;RankSumP=0.610220;SB=-138.54;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.483G>A;refseq.codingCoordStr_2=c.876G>A;refseq.codonCoord_1=161;refseq.codonCoord_2=292;refseq.end_1=86610746;refseq.end_2=86610746;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1090;refseq.mrnaCoord_2=1223;refseq.name2_1=ODF2L;refseq.name2_2=ODF2L;refseq.name_1=NM_001007022;refseq.name_2=NM_020729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V161V;refseq.proteinCoordStr_2=p.V292V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=86610746;refseq.start_2=86610746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr1 86620543 . G A 151.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1584.57;QD=20.32;RankSumP=0.222010;SB=-182.63;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.201C>T;refseq.codingCoordStr_2=c.594C>T;refseq.codonCoord_1=67;refseq.codonCoord_2=198;refseq.end_1=86620543;refseq.end_2=86620543;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=941;refseq.name2_1=ODF2L;refseq.name2_2=ODF2L;refseq.name_1=NM_001007022;refseq.name_2=NM_020729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A67A;refseq.proteinCoordStr_2=p.A198A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=86620543;refseq.start_2=86620543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr1 86666829 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=320;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=99.00;MQ0=0;OQ=5520.42;QD=17.25;RankSumP=0.229001;SB=-2090.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=86666829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_006536;refseq.name2=CLCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y155Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-11;refseq.start=86666829;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr1 86672920 . T C 243.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=8.15;MQ=98.91;MQ0=0;OQ=2660.22;QD=15.47;RankSumP=0.142565;SB=-700.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.876T>C;refseq.codonCoord=292;refseq.end=86672920;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1038;refseq.name=NM_006536;refseq.name2=CLCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N292N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-97;refseq.start=86672920;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 86672960 . C G 190.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=98.73;MQ0=0;OQ=2315.34;QD=21.84;RankSumP=0.225806;SB=-594.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.916C>G;refseq.codonCoord=306;refseq.end=86672960;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1078;refseq.name=NM_006536;refseq.name2=CLCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q306E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-57;refseq.start=86672960;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 86711718 . C T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=2;HaplotypeScore=8.87;MQ=98.73;MQ0=0;OQ=12832.49;QD=43.35;RankSumP=1.00000;SB=-5730.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.193C>T;refseq.codonCoord=65;refseq.end=86711718;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_001285;refseq.name2=CLCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L65F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=31;refseq.start=86711718;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 86724912 . A G 167.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=4.51;MQ=98.84;MQ0=0;OQ=19541.73;QD=40.21;RankSumP=1.00000;SB=-9032.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1070A>G;refseq.codonCoord=357;refseq.end=86724912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1199;refseq.name=NM_001285;refseq.name2=CLCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N357S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-113;refseq.start=86724912;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 86731761 . T C 240.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.83;MQ0=0;OQ=10971.80;QD=37.45;RankSumP=1.00000;SB=-5304.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1571T>C;refseq.codonCoord=524;refseq.end=86731761;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1700;refseq.name=NM_001285;refseq.name2=CLCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M524T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=107;refseq.start=86731761;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 86818490 . A T 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2634A>T;refseq.codonCoord_2=878;refseq.end_1=86818490;refseq.end_2=86818490;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2569;refseq.mrnaCoord_2=2678;refseq.name2_1=CLCA4;refseq.name2_2=CLCA4;refseq.name_1=NR_024602;refseq.name_2=NM_012128;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T878T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=278;refseq.spliceDist_2=278;refseq.start_1=86818490;refseq.start_2=86818490;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=soap GT 1/1 chr1 86875134 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr1;refseq.end=86875134;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=530;refseq.name=NR_024604;refseq.name2=CLCA3P;refseq.positionType=non_coding_exon;refseq.spliceDist=-46;refseq.start=86875134;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr1 86980652 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.935T>G;refseq.codonCoord=312;refseq.end=86980652;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_016009;refseq.name2=SH3GLB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-56;refseq.start=86980652;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 88998564 . T C 151.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=3.98;MQ=98.95;MQ0=0;OQ=5772.45;QD=19.90;RankSumP=0.340860;SB=-2135.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.421T>C;refseq.codonCoord=141;refseq.end=88998564;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_006256;refseq.name2=PKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L141L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=72;refseq.start=88998564;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr1 89010144 . C T 104.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=6.56;MQ=98.85;MQ0=0;OQ=1720.33;QD=16.87;RankSumP=0.152933;SB=-408.88;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.979C>T;refseq.codonCoord=327;refseq.end=89010144;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_006256;refseq.name2=PKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L327L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=89010144;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr1 89045875 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=3;HaplotypeScore=11.35;MQ=98.98;MQ0=0;OQ=4118.56;QD=17.98;RankSumP=0.179525;SB=-889.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2010G>A;refseq.codonCoord=670;refseq.end=89045875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2352;refseq.name=NM_006256;refseq.name2=PKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K670K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=89045875;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr1 89095570 . G A 145.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=1;HaplotypeScore=9.47;MQ=98.96;MQ0=0;OQ=7175.57;QD=41.24;RankSumP=1.00000;SB=-2314.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.724C>T;refseq.codonCoord=242;refseq.end=89095570;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_001514;refseq.name2=GTF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L242L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-94;refseq.start=89095570;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 89199490 . G A 260.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=9.20;MQ=98.78;MQ0=0;OQ=14719.99;QD=41.46;RankSumP=1.00000;SB=-7188.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.735C>T;refseq.codingCoordStr_2=c.633C>T;refseq.codonCoord_1=245;refseq.codonCoord_2=211;refseq.end_1=89199490;refseq.end_2=89199490;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1112;refseq.mrnaCoord_2=1012;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S245S;refseq.proteinCoordStr_2=p.S211S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=89199490;refseq.start_2=89199490;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr1 89200360 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.510A>G;refseq.codingCoordStr_2=c.408A>G;refseq.codonCoord_1=170;refseq.codonCoord_2=136;refseq.end_1=89200360;refseq.end_2=89200360;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=887;refseq.mrnaCoord_2=787;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G170G;refseq.proteinCoordStr_2=p.G136G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=89200360;refseq.start_2=89200360;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 89221866 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=586;Dels=0.00;HRun=4;HaplotypeScore=12.06;MQ=55.26;MQ0=170;OQ=1624.95;QD=2.77;RankSumP=0.471506;SB=-102.98;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.232G>A;refseq.codingCoordStr_4=c.232G>A;refseq.codonCoord_3=78;refseq.codonCoord_4=78;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89221866;refseq.end_4=89221866;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=948;refseq.mrnaCoord_4=848;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.A78T;refseq.proteinCoordStr_4=p.A78T;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_3=472;refseq.spliceDist_4=472;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89221866;refseq.start_4=89221866;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=soap-filterIngatk GT 0/1 chr1 89221886 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=817;Dels=0.00;HRun=0;HaplotypeScore=12.45;MQ=49.38;MQ0=224;OQ=6413.59;QD=7.85;RankSumP=0.0932971;SB=-900.88;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.212G>C;refseq.codingCoordStr_4=c.212G>C;refseq.codonCoord_3=71;refseq.codonCoord_4=71;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89221886;refseq.end_4=89221886;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=928;refseq.mrnaCoord_4=828;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.G71A;refseq.proteinCoordStr_4=p.G71A;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_3=452;refseq.spliceDist_4=452;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89221886;refseq.start_4=89221886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr1 89221978 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=947;Dels=0.00;HRun=0;HaplotypeScore=15.38;MQ=76.86;MQ0=158;OQ=7399.68;QD=7.81;RankSumP=0.251520;SB=-2077.53;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.120A>G;refseq.codingCoordStr_4=c.120A>G;refseq.codonCoord_3=40;refseq.codonCoord_4=40;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89221978;refseq.end_4=89221978;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=836;refseq.mrnaCoord_4=736;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.I40M;refseq.proteinCoordStr_4=p.I40M;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_3=360;refseq.spliceDist_4=360;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89221978;refseq.start_4=89221978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/0 chr1 89221987 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=907;Dels=0.00;HRun=0;HaplotypeScore=33.99;MQ=79.37;MQ0=112;OQ=7390.59;QD=8.15;RankSumP=0.275178;SB=-1927.30;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.111A>G;refseq.codingCoordStr_4=c.111A>G;refseq.codonCoord_3=37;refseq.codonCoord_4=37;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89221987;refseq.end_4=89221987;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=827;refseq.mrnaCoord_4=727;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V37V;refseq.proteinCoordStr_4=p.V37V;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_3=351;refseq.spliceDist_4=351;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89221987;refseq.start_4=89221987;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=soap-filterIngatk GT 1/0 chr1 89222022 rs2893084 T C 0.73 PASS AC=1;AF=0.50;AN=2;DB;DP=900;Dels=0.00;HRun=0;HaplotypeScore=19.38;MQ=76.32;MQ0=125;OQ=1596.06;QD=1.77;SB=-236.32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.76A>G;refseq.codingCoordStr_4=c.76A>G;refseq.codonCoord_3=26;refseq.codonCoord_4=26;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89222022;refseq.end_4=89222022;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=792;refseq.mrnaCoord_4=692;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T26A;refseq.proteinCoordStr_4=p.T26A;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_3=316;refseq.spliceDist_4=316;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89222022;refseq.start_4=89222022;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=gatk GT:AD:DP:GL:GQ 0/1:695,205:763:-392.65,-229.76,-2893.36:99 chr1 89222071 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=690;Dels=0.00;HRun=1;HaplotypeScore=11.32;MQ=76.31;MQ0=108;OQ=390.38;QD=0.57;RankSumP=0.436007;SB=384.32;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.27G>C;refseq.codingCoordStr_4=c.27G>C;refseq.codonCoord_3=9;refseq.codonCoord_4=9;refseq.end_1=89226512;refseq.end_2=89230845;refseq.end_3=89222071;refseq.end_4=89222071;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=743;refseq.mrnaCoord_4=643;refseq.name2_1=CCBL2;refseq.name2_2=CCBL2;refseq.name2_3=RBMXL1;refseq.name2_4=RBMXL1;refseq.name_1=NM_001008661;refseq.name_2=NM_001008662;refseq.name_3=NM_001162536;refseq.name_4=NM_019610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.K9N;refseq.proteinCoordStr_4=p.K9N;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_3=267;refseq.spliceDist_4=267;refseq.start_1=89207749;refseq.start_2=89207749;refseq.start_3=89222071;refseq.start_4=89222071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=soap-filterIngatk GT 1/0 chr1 89247406 . A G 127.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.52;MQ0=0;OQ=1215.65;QD=13.21;RankSumP=0.273147;SB=-313.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1471T>C;refseq.codonCoord=491;refseq.end=89247406;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_018284;refseq.name2=GBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C491R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=89247406;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 89247723 . C T 295.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=9.38;MQ=90.65;MQ0=27;OQ=7793.90;QD=17.63;RankSumP=0.367367;SB=-3113.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1405G>A;refseq.codonCoord=469;refseq.end=89247723;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_018284;refseq.name2=GBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V469M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=43;refseq.start=89247723;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 89251651 . G A 228.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.06;MQ0=0;OQ=3997.23;QD=22.46;RankSumP=0.390718;SB=-1493.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.673C>T;refseq.codonCoord=225;refseq.end=89251651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_018284;refseq.name2=GBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R225W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=48;refseq.start=89251651;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 89251662 . C T 147.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=98.02;MQ0=0;OQ=3904.23;QD=22.97;RankSumP=0.344064;SB=-1416.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.662G>A;refseq.codonCoord=221;refseq.end=89251662;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_018284;refseq.name2=GBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R221Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=37;refseq.start=89251662;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 89292988 . T C 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.601430;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1630A>G;refseq.codonCoord=544;refseq.end=89292988;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_002053;refseq.name2=GBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K544E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-36;refseq.start=89292988;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr1 89294417 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.330696;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1238T>A;refseq.codonCoord=413;refseq.end=89294417;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1458;refseq.name=NM_002053;refseq.name2=GBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V413D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=83;refseq.start=89294417;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr1 89294429 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=449;Dels=0.00;HRun=1;HaplotypeScore=18.49;MQ=31.45;MQ0=340;OQ=1938.24;QD=4.32;RankSumP=0.243126;SB=-607.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1226C>G;refseq.codonCoord=409;refseq.end=89294429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_002053;refseq.name2=GBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A409G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=71;refseq.start=89294429;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr1 89294439 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.129744;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1216C>T;refseq.codonCoord=406;refseq.end=89294439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1436;refseq.name=NM_002053;refseq.name2=GBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R406C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=61;refseq.start=89294439;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr1 89295234 . G C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=14.93;MQ=75.61;MQ0=11;OQ=17916.52;QD=44.68;RankSumP=1.00000;SB=-7658.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1046C>G;refseq.codonCoord=349;refseq.end=89295234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_002053;refseq.name2=GBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-110;refseq.start=89295234;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 89352529 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=5.45;MQ=74.68;MQ0=46;OQ=3173.99;QD=12.11;RankSumP=0.464955;SB=-1306.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.907A>G;refseq.codonCoord=303;refseq.end=89352529;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_004120;refseq.name2=GBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S303G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=39;refseq.start=89352529;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 89355278 . G C 157.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=98.43;MQ0=0;OQ=1869.53;QD=21.01;RankSumP=0.390520;SB=-882.15;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.853C>G;refseq.codonCoord=285;refseq.end=89355278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_004120;refseq.name2=GBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P285A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-16;refseq.start=89355278;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 89371625 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=636;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=97.42;MQ0=0;OQ=189.54;QD=0.30;SB=15.31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1566T>C;refseq.codonCoord=522;refseq.end=89371625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1705;refseq.name=NM_207398;refseq.name2=GBP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S522S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-97;refseq.start=89371625;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:584,52:627:-211.06,-188.83,-2429.16:99 chr1 89410166 . G A 180.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.72;MQ0=0;OQ=6923.36;QD=23.08;RankSumP=0.379063;SB=-2506.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.41C>T;refseq.codonCoord=14;refseq.end=89410166;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_207398;refseq.name2=GBP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T14I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=60;refseq.start=89410166;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 89424659 . T C 1074.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=402;Dels=0.00;HRun=2;HaplotypeScore=4.41;MQ=96.79;MQ0=0;QD=2.67;RankSumP=0.265595;SB=-467.67;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1652A>G;refseq.codonCoord=551;refseq.end=89424659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1768;refseq.name=NM_052941;refseq.name2=GBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E551G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-56;refseq.start=89424659;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr1 89424660 . C T 1003.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=4.41;MQ=96.80;MQ0=0;QD=2.57;RankSumP=0.311988;SB=-400.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1651G>A;refseq.codonCoord=551;refseq.end=89424660;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1767;refseq.name=NM_052941;refseq.name2=GBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E551K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-57;refseq.start=89424660;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap-filterIngatk GT 0/1 chr1 89424666 rs608339 A T 95.01 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=96.70;MQ0=0;QD=0.27;SB=59.33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1645T>A;refseq.codonCoord=549;refseq.end=89424666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1761;refseq.name=NM_052941;refseq.name2=GBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L549M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-63;refseq.start=89424666;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:258,98:272:-94.70,-81.92,-961.92:99 chr1 89433579 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=242;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.72;MQ0=0;OQ=5517.03;QD=22.80;RankSumP=0.184707;SB=-1966.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.352G>C;refseq.codonCoord=118;refseq.end=89433579;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_052941;refseq.name2=GBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D118H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-12;refseq.start=89433579;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 89500645 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.409984;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1493A>G;refseq.codingCoordStr_2=c.1493A>G;refseq.codonCoord_1=498;refseq.codonCoord_2=498;refseq.end_1=89500645;refseq.end_2=89500645;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1922;refseq.mrnaCoord_2=2030;refseq.name2_1=GBP5;refseq.name2_2=GBP5;refseq.name_1=NM_001134486;refseq.name_2=NM_052942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K498R;refseq.proteinCoordStr_2=p.K498R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=89500645;refseq.start_2=89500645;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 1/0 chr1 89619960 . G T 287.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.09;MQ0=0;OQ=7633.60;QD=36.35;RankSumP=1.00000;SB=-3400.90;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.991G>T;refseq.codonCoord=331;refseq.end=89619960;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1265;refseq.name=NM_198460;refseq.name2=GBP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A331S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=120;refseq.start=89619960;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 89619999 . C T 312.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=97.65;MQ0=0;OQ=8742.99;QD=37.05;RankSumP=1.00000;SB=-3155.36;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1030C>T;refseq.codonCoord=344;refseq.end=89619999;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1304;refseq.name=NM_198460;refseq.name2=GBP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L344F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-123;refseq.start=89619999;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 89620032 . A G 197.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=8.03;MQ=97.17;MQ0=0;OQ=9928.47;QD=33.21;RankSumP=1.00000;SB=-4073.23;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1063A>G;refseq.codonCoord=355;refseq.end=89620032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_198460;refseq.name2=GBP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M355V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-90;refseq.start=89620032;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 89622330 . A T 311.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=3492.63;QD=39.24;RankSumP=1.00000;SB=-1677.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1559A>T;refseq.codonCoord=520;refseq.end=89622330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1833;refseq.name=NM_198460;refseq.name2=GBP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D520V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=91;refseq.start=89622330;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr1 89951331 . A G 217.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1842.88;QD=36.86;RankSumP=1.00000;SB=-257.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.614A>G;refseq.codonCoord=205;refseq.end=89951331;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_032270;refseq.name2=LRRC8C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D205G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=476;refseq.start=89951331;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 90173724 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2509A>C;refseq.codingCoordStr_2=c.2509A>C;refseq.codonCoord_1=837;refseq.codonCoord_2=837;refseq.end_1=90173724;refseq.end_2=90173724;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2934;refseq.mrnaCoord_2=2921;refseq.name2_1=LRRC8D;refseq.name2_2=LRRC8D;refseq.name_1=NM_001134479;refseq.name_2=NM_018103;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T837P;refseq.proteinCoordStr_2=p.T837P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-852;refseq.spliceDist_2=-852;refseq.start_1=90173724;refseq.start_2=90173724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 90259000 . T G 222.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.76;MQ0=0;OQ=8320.79;QD=22.86;RankSumP=0.327539;SB=-2904.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1236T>G;refseq.codonCoord=412;refseq.end=90259000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1375;refseq.name=NM_182976;refseq.name2=ZNF326;refseq.positionType=CDS;refseq.proteinCoordStr=p.V412V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=62;refseq.start=90259000;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 90265614 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=4.14;MQ=98.98;MQ0=0;OQ=2933.00;QD=18.22;RankSumP=0.400171;SB=-192.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1515G>A;refseq.codonCoord=505;refseq.end=90265614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_182976;refseq.name2=ZNF326;refseq.positionType=CDS;refseq.proteinCoordStr=p.E505E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=114;refseq.start=90265614;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 91500641 . G A 140.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=10.57;MQ=98.90;MQ0=0;OQ=8194.37;QD=43.59;RankSumP=1.00000;SB=-2341.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4071C>T;refseq.codonCoord=1357;refseq.end=91500641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4170;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1357A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-16;refseq.start=91500641;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 91554619 . T C 417.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.95;MQ0=0;OQ=8224.81;QD=42.40;RankSumP=1.00000;SB=-1773.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2815A>G;refseq.codonCoord=939;refseq.end=91554619;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2914;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I939V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=91554619;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 91557475 . G A 188.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=98.82;MQ0=0;OQ=18719.76;QD=43.84;RankSumP=1.00000;SB=-8648.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2643C>T;refseq.codonCoord=881;refseq.end=91557475;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2742;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T881T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-38;refseq.start=91557475;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 91623841 . T C 438.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=5089.88;QD=41.38;RankSumP=1.00000;SB=-2303.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.633A>G;refseq.codonCoord=211;refseq.end=91623841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q211Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-122;refseq.start=91623841;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 91632383 . T C 264.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=8.22;MQ=98.78;MQ0=0;OQ=10693.63;QD=42.27;RankSumP=1.00000;SB=-3749.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.349A>G;refseq.codonCoord=117;refseq.end=91632383;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I117V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-146;refseq.start=91632383;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr1 91632389 . A G 335.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.92;MQ0=0;OQ=9877.56;QD=41.33;RankSumP=1.00000;SB=-3894.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.343T>C;refseq.codonCoord=115;refseq.end=91632389;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_001017975;refseq.name2=HFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S115P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-152;refseq.start=91632389;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 91753035 . A G 295.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.81;MQ0=0;OQ=9457.08;QD=36.94;RankSumP=1.00000;SB=-3893.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.990A>G;refseq.codingCoordStr_2=c.990A>G;refseq.codingCoordStr_3=c.990A>G;refseq.codonCoord_1=330;refseq.codonCoord_2=330;refseq.codonCoord_3=330;refseq.end_1=91753035;refseq.end_2=91753035;refseq.end_3=91753035;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1121;refseq.mrnaCoord_2=1249;refseq.mrnaCoord_3=1155;refseq.name2_1=CDC7;refseq.name2_2=CDC7;refseq.name2_3=CDC7;refseq.name_1=NM_001134419;refseq.name_2=NM_001134420;refseq.name_3=NM_003503;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T330T;refseq.proteinCoordStr_2=p.T330T;refseq.proteinCoordStr_3=p.T330T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.start_1=91753035;refseq.start_2=91753035;refseq.start_3=91753035;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr1 91946848 . A G 345.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.20;MQ0=0;OQ=5477.60;QD=40.57;RankSumP=1.00000;SB=-2595.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2247T>C;refseq.codonCoord=749;refseq.end=91946848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2713;refseq.name=NM_003243;refseq.name2=TGFBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T749T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-41;refseq.start=91946848;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 91958245 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=973.97;QD=14.76;RankSumP=0.617261;SB=-279.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1206G>A;refseq.codonCoord=402;refseq.end=91958245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1672;refseq.name=NM_003243;refseq.name2=TGFBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P402P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=131;refseq.start=91958245;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 92035462 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=96.91;MQ0=0;OQ=2307.52;QD=36.63;RankSumP=1.00000;SB=-1038.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.216A>G;refseq.codonCoord=72;refseq.end=92035462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_003243;refseq.name2=TGFBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A72A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-31;refseq.start=92035462;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 92201083 . C A 296.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=12642.44;QD=39.38;RankSumP=1.00000;SB=-3582.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.184C>A;refseq.codingCoordStr_2=c.184C>A;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=92201083;refseq.end_2=92201083;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=328;refseq.mrnaCoord_2=533;refseq.name2_1=BRDT;refseq.name2_2=BRDT;refseq.name_1=NM_001726;refseq.name_2=NM_207189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q62K;refseq.proteinCoordStr_2=p.Q62K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=92201083;refseq.start_2=92201083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 92217845 . C G 280.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=15.42;MQ=98.57;MQ0=0;OQ=6959.82;QD=17.75;RankSumP=0.346204;SB=-2794.68;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1230C>G;refseq.codingCoordStr_2=c.1230C>G;refseq.codonCoord_1=410;refseq.codonCoord_2=410;refseq.end_1=92217845;refseq.end_2=92217845;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1374;refseq.mrnaCoord_2=1579;refseq.name2_1=BRDT;refseq.name2_2=BRDT;refseq.name_1=NM_001726;refseq.name_2=NM_207189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N410K;refseq.proteinCoordStr_2=p.N410K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=92217845;refseq.start_2=92217845;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr1 92230431 . C T 351.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.53;MQ0=0;OQ=3178.19;QD=43.54;RankSumP=1.00000;SB=-994.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2087C>T;refseq.codingCoordStr_2=c.2087C>T;refseq.codonCoord_1=696;refseq.codonCoord_2=696;refseq.end_1=92230431;refseq.end_2=92230431;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2231;refseq.mrnaCoord_2=2436;refseq.name2_1=BRDT;refseq.name2_2=BRDT;refseq.name_1=NM_001726;refseq.name_2=NM_207189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P696L;refseq.proteinCoordStr_2=p.P696L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=92230431;refseq.start_2=92230431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr1 92367883 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.714T>G;refseq.codonCoord=238;refseq.end=92367883;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_183242;refseq.name2=BTBD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C238W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-39;refseq.start=92367883;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 92719067 . G A 182.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.29;MQ0=0;OQ=325.06;QD=36.12;RankSumP=1.00000;SB=-50.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.465C>T;refseq.codingCoordStr_2=c.465C>T;refseq.codingCoordStr_3=c.465C>T;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.codonCoord_3=155;refseq.end_1=92719067;refseq.end_2=92719067;refseq.end_3=92719067;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=629;refseq.mrnaCoord_2=622;refseq.mrnaCoord_3=715;refseq.name2_1=GFI1;refseq.name2_2=GFI1;refseq.name2_3=GFI1;refseq.name_1=NM_001127215;refseq.name_2=NM_001127216;refseq.name_3=NM_005263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C155C;refseq.proteinCoordStr_2=p.C155C;refseq.proteinCoordStr_3=p.C155C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=167;refseq.spliceDist_2=167;refseq.spliceDist_3=167;refseq.start_1=92719067;refseq.start_2=92719067;refseq.start_3=92719067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=filterInsoap-gatk GT 1/1 chr1 92751942 . A G 299.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.51;MQ0=0;OQ=7914.35;QD=41.65;RankSumP=1.00000;SB=-3884.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2292T>C;refseq.codonCoord=764;refseq.end=92751942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_005665;refseq.name2=EVI5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G764G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=174;refseq.start=92751942;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 92845816 . C A 187.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.61;MQ0=0;OQ=1838.03;QD=14.70;RankSumP=0.295887;SB=-872.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1836G>T;refseq.codonCoord=612;refseq.end=92845816;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1846;refseq.name=NM_005665;refseq.name2=EVI5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q612H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=57;refseq.start=92845816;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 92862411 . T C 144.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=10.47;MQ=98.66;MQ0=0;OQ=11807.00;QD=41.72;RankSumP=1.00000;SB=-4376.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1689A>G;refseq.codonCoord=563;refseq.end=92862411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1699;refseq.name=NM_005665;refseq.name2=EVI5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q563Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=69;refseq.start=92862411;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 92863937 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr1;refseq.codingCoordStr=c.1620+2;refseq.end=92863937;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_005665;refseq.name2=EVI5;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=92863937;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr1 92933490 . T C 202.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=98.90;MQ0=0;OQ=12308.56;QD=41.87;RankSumP=1.00000;SB=-4021.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1006A>G;refseq.codonCoord=336;refseq.end=92933490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_005665;refseq.name2=EVI5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I336V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-36;refseq.start=92933490;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr1 93078905 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=6.73;MQ=98.95;MQ0=0;OQ=4563.80;QD=18.48;RankSumP=0.167652;SB=-1275.64;SecondBestBaseQ=33;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.end_1=93079900;refseq.end_2=93078905;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=42;refseq.name2_1=RPL5;refseq.name2_2=SNORA66;refseq.name_1=NM_000969;refseq.name_2=NR_002444;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=42;refseq.start_1=93078795;refseq.start_2=93078905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr1 93353169 . G C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=10182.95;QD=49.92;RankSumP=1.00000;SB=-4378.55;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.113G>C;refseq.codingCoordStr_2=c.419G>C;refseq.codingCoordStr_3=c.113G>C;refseq.codingCoordStr_4=c.419G>C;refseq.codonCoord_1=38;refseq.codonCoord_2=140;refseq.codonCoord_3=38;refseq.codonCoord_4=140;refseq.end_1=93353169;refseq.end_2=93353169;refseq.end_3=93353169;refseq.end_4=93353169;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=631;refseq.mrnaCoord_2=711;refseq.mrnaCoord_3=430;refseq.mrnaCoord_4=711;refseq.name2_1=MTF2;refseq.name2_2=MTF2;refseq.name2_3=MTF2;refseq.name2_4=MTF2;refseq.name_1=NM_001164391;refseq.name_2=NM_001164392;refseq.name_3=NM_001164393;refseq.name_4=NM_007358;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C38S;refseq.proteinCoordStr_2=p.C140S;refseq.proteinCoordStr_3=p.C38S;refseq.proteinCoordStr_4=p.C140S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=93353169;refseq.start_2=93353169;refseq.start_3=93353169;refseq.start_4=93353169;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=Intersection GT 1/1 chr1 93392981 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=633;Dels=0.00;HRun=1;HaplotypeScore=8.90;MQ=98.90;MQ0=0;OQ=27418.93;QD=43.32;RankSumP=1.00000;SB=-11376.57;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.573C>T;refseq.codingCoordStr_3=c.524C>T;refseq.codonCoord_2=191;refseq.codonCoord_3=175;refseq.end_1=93392981;refseq.end_2=93392981;refseq.end_3=93392981;refseq.frame_2=2;refseq.frame_3=1;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1042;refseq.mrnaCoord_2=1020;refseq.mrnaCoord_3=971;refseq.name2_1=TMED5;refseq.name2_2=TMED5;refseq.name2_3=TMED5;refseq.name_1=NR_030761;refseq.name_2=NM_001167830;refseq.name_3=NM_016040;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N191N;refseq.proteinCoordStr_3=p.T175I;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=93392981;refseq.start_2=93392981;refseq.start_3=93392981;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Ile;refseq.variantCodon_2=AAT;refseq.variantCodon_3=ATT;set=Intersection GT 1/1 chr1 93418795 . T C 121.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.96;MQ0=0;OQ=1536.65;QD=36.59;RankSumP=1.00000;SB=-272.78;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.-408A>G;refseq.codingCoordStr_3=c.-408A>G;refseq.codingCoordStr_4=c.120T>C;refseq.codonCoord_4=40;refseq.end_1=93418795;refseq.end_2=93418795;refseq.end_3=93418795;refseq.end_4=93418795;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=40;refseq.mrnaCoord_2=40;refseq.mrnaCoord_3=40;refseq.mrnaCoord_4=288;refseq.name2_1=TMED5;refseq.name2_2=TMED5;refseq.name2_3=TMED5;refseq.name2_4=CCDC18;refseq.name_1=NR_030761;refseq.name_2=NM_001167830;refseq.name_3=NM_016040;refseq.name_4=NM_206886;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.L40L;refseq.referenceAA_4=Leu;refseq.referenceCodon_4=CTT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=-233;refseq.start_1=93418795;refseq.start_2=93418795;refseq.start_3=93418795;refseq.start_4=93418795;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Leu;refseq.variantCodon_4=CTC;set=Intersection GT 1/1 chr1 93419006 . C T 303.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=97.99;MQ0=0;OQ=4330.04;QD=37.98;RankSumP=1.00000;SB=-1150.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.331C>T;refseq.codonCoord=111;refseq.end=93419006;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_206886;refseq.name2=CCDC18;refseq.positionType=CDS;refseq.proteinCoordStr=p.L111F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-22;refseq.start=93419006;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 93445311 . A C 433.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=4494.32;QD=39.77;RankSumP=1.00000;SB=-1914.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1331A>C;refseq.codonCoord=444;refseq.end=93445311;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1499;refseq.name=NM_206886;refseq.name2=CCDC18;refseq.positionType=CDS;refseq.proteinCoordStr=p.N444T;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=60;refseq.start=93445311;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 93821073 . C G 131.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=98.86;MQ0=0;OQ=3102.63;QD=19.27;RankSumP=0.377792;SB=-1206.77;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1059G>C;refseq.codonCoord=353;refseq.end=93821073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_003567;refseq.name2=BCAR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S353S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=26;refseq.start=93821073;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr1 94239247 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=99.00;MQ0=0;OQ=645.03;QD=11.73;RankSumP=0.482885;SB=-125.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6285T>C;refseq.codonCoord=2095;refseq.end=94239247;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6389;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2095D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=94239247;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 94240020 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6264C>G;refseq.codonCoord=2088;refseq.end=94240020;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6368;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2088W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-19;refseq.start=94240020;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 94243663 . A G 205.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=7.40;MQ=98.87;MQ0=0;OQ=11040.07;QD=39.29;RankSumP=1.00000;SB=-3473.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6069T>C;refseq.codonCoord=2023;refseq.end=94243663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6173;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2023I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=64;refseq.start=94243663;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 94246433 . T C 100.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=283;Dels=0.00;HRun=2;HaplotypeScore=6.93;MQ=98.87;MQ0=0;OQ=4150.98;QD=14.67;RankSumP=0.191402;SB=-1274.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5844A>G;refseq.codonCoord=1948;refseq.end=94246433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5948;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1948P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=94246433;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 94246916 . T C 135.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=698;Dels=0.00;HRun=0;HaplotypeScore=15.83;MQ=98.79;MQ0=0;OQ=14217.90;QD=20.37;RankSumP=0.415620;SB=-4619.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5814A>G;refseq.codonCoord=1938;refseq.end=94246916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5918;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1938L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-22;refseq.start=94246916;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 94248976 . C G 110.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=4.71;MQ=98.62;MQ0=0;OQ=3144.33;QD=21.54;RankSumP=0.459199;SB=-787.46;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5682G>C;refseq.codonCoord=1894;refseq.end=94248976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5786;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1894L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-33;refseq.start=94248976;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 94285153 . C T 155.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=98.93;MQ0=0;OQ=4083.43;QD=21.95;RankSumP=0.0167750;SB=-979.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2828G>A;refseq.codonCoord=943;refseq.end=94285153;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2932;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R943Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=85;refseq.start=94285153;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 94351136 . T C 451.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.70;MQ0=0;OQ=7090.23;QD=39.17;RankSumP=1.00000;SB=-2675.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.141A>G;refseq.codonCoord=47;refseq.end=94351136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_000350;refseq.name2=ABCA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P47P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-20;refseq.start=94351136;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 94412035 . C T 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=688;Dels=0.00;HRun=0;HaplotypeScore=13.71;MQ=98.90;MQ0=0;OQ=28890.72;QD=41.99;RankSumP=1.00000;SB=-12457.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3764G>A;refseq.codonCoord=1255;refseq.end=94412035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4133;refseq.name=NM_004815;refseq.name2=ARHGAP29;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1255D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=859;refseq.start=94412035;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 94702933 . G A 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=5;HaplotypeScore=6.18;MQ=98.59;MQ0=0;OQ=7515.48;QD=43.69;RankSumP=1.00000;SB=-3166.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.162G>A;refseq.codingCoordStr_2=c.162G>A;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=94702933;refseq.end_2=94702933;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=264;refseq.mrnaCoord_2=264;refseq.name2_1=ABCD3;refseq.name2_2=ABCD3;refseq.name_1=NM_001122674;refseq.name_2=NM_002858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K54K;refseq.proteinCoordStr_2=p.K54K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=94702933;refseq.start_2=94702933;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr1 94774188 . A C 280.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.82;MQ0=0;OQ=6298.24;QD=37.49;RankSumP=1.00000;SB=-2604.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.333T>G;refseq.codonCoord=111;refseq.end=94774188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_001993;refseq.name2=F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P111P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-80;refseq.start=94774188;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 95083528 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.992T>C;refseq.codingCoordStr_2=c.848T>C;refseq.codonCoord_1=331;refseq.codonCoord_2=283;refseq.end_1=95083528;refseq.end_2=95083528;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1099;refseq.mrnaCoord_2=1037;refseq.name2_1=SLC44A3;refseq.name2_2=SLC44A3;refseq.name_1=NM_001114106;refseq.name_2=NM_152369;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F331S;refseq.proteinCoordStr_2=p.F283S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=95083528;refseq.start_2=95083528;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr1 95310910 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.133T>G;refseq.codonCoord=45;refseq.end=95310910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_144988;refseq.name2=ALG14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=95310910;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 95310996 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.47T>G;refseq.codonCoord=16;refseq.end=95310996;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=100;refseq.name=NM_144988;refseq.name2=ALG14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V16G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-90;refseq.start=95310996;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 95482409 . T C 208.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=14.15;MQ=98.68;MQ0=0;OQ=11326.57;QD=37.76;RankSumP=1.00000;SB=-5336.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.140T>C;refseq.codingCoordStr_2=c.140T>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=95482409;refseq.end_2=95482409;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=216;refseq.mrnaCoord_2=216;refseq.name2_1=RWDD3;refseq.name2_2=RWDD3;refseq.name_1=NM_001128142;refseq.name_2=NM_015485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V47A;refseq.proteinCoordStr_2=p.V47A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=95482409;refseq.start_2=95482409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr1 95482527 . T G 350.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=99.00;MQ0=0;OQ=8447.75;QD=40.23;RankSumP=1.00000;SB=-4003.50;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.258T>G;refseq.codingCoordStr_2=c.258T>G;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=95482527;refseq.end_2=95482527;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=334;refseq.mrnaCoord_2=334;refseq.name2_1=RWDD3;refseq.name2_2=RWDD3;refseq.name_1=NM_001128142;refseq.name_2=NM_015485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N86K;refseq.proteinCoordStr_2=p.N86K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.start_1=95482527;refseq.start_2=95482527;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 97045044 . A G 314.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.94;MQ0=0;OQ=6985.45;QD=21.69;RankSumP=0.250517;SB=-2608.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1113A>G;refseq.codonCoord=371;refseq.end=97045044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_021190;refseq.name2=PTBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L371L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=35;refseq.start=97045044;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 97753983 . T C 134.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.91;MQ0=0;OQ=4178.85;QD=25.17;RankSumP=0.438696;SB=-1810.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1627A>G;refseq.codonCoord=543;refseq.end=97753983;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1764;refseq.name=NM_000110;refseq.name2=DPYD;refseq.positionType=CDS;refseq.proteinCoordStr=p.I543V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=103;refseq.start=97753983;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 97754009 . C T 118.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.96;MQ0=0;OQ=2935.86;QD=14.32;RankSumP=0.173906;SB=-1337.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1601G>A;refseq.codonCoord=534;refseq.end=97754009;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_000110;refseq.name2=DPYD;refseq.positionType=CDS;refseq.proteinCoordStr=p.S534N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=77;refseq.start=97754009;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 98121473 . G A 307.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.34;MQ0=0;OQ=11524.14;QD=41.60;RankSumP=1.00000;SB=-5182.89;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.85C>T;refseq.codingCoordStr_2=c.85C>T;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.end_1=98121473;refseq.end_2=98121473;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=222;refseq.mrnaCoord_2=222;refseq.name2_1=DPYD;refseq.name2_2=DPYD;refseq.name_1=NM_000110;refseq.name_2=NM_001160301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R29C;refseq.proteinCoordStr_2=p.R29C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=98121473;refseq.start_2=98121473;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr1 98933772 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.95;MQ0=0;OQ=2987.54;QD=17.89;RankSumP=0.391745;SB=-668.10;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.750C>A;refseq.codingCoordStr_2=c.558C>A;refseq.codonCoord_1=250;refseq.codonCoord_2=186;refseq.end_1=98933772;refseq.end_2=98933772;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=922;refseq.name2_1=SNX7;refseq.name2_2=SNX7;refseq.name_1=NM_015976;refseq.name_2=NM_152238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F250L;refseq.proteinCoordStr_2=p.F186L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=98933772;refseq.start_2=98933772;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/0 chr1 98937022 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=351;Dels=0.00;HRun=1;HaplotypeScore=14.77;MQ=96.74;MQ0=1;OQ=6022.29;QD=17.16;RankSumP=0.376407;SB=-2057.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1011G>A;refseq.codingCoordStr_2=c.819G>A;refseq.codonCoord_1=337;refseq.codonCoord_2=273;refseq.end_1=98937022;refseq.end_2=98937022;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1063;refseq.mrnaCoord_2=1183;refseq.name2_1=SNX7;refseq.name2_2=SNX7;refseq.name_1=NM_015976;refseq.name_2=NM_152238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E337E;refseq.proteinCoordStr_2=p.E273E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=98937022;refseq.start_2=98937022;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr1 98998215 . G A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=1;HaplotypeScore=10.77;MQ=98.42;MQ0=0;OQ=16787.56;QD=43.05;RankSumP=1.00000;SB=-6842.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1296G>A;refseq.codingCoordStr_2=c.951G>A;refseq.codonCoord_1=432;refseq.codonCoord_2=317;refseq.end_1=98998215;refseq.end_2=98998215;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1348;refseq.mrnaCoord_2=1315;refseq.name2_1=SNX7;refseq.name2_2=SNX7;refseq.name_1=NM_015976;refseq.name_2=NM_152238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E432E;refseq.proteinCoordStr_2=p.E317E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=98998215;refseq.start_2=98998215;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr1 99191235 . G C 232.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.83;MQ0=0;OQ=6862.53;QD=22.72;RankSumP=0.389605;SB=-2941.95;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.600C>G;refseq.codingCoordStr_2=c.600C>G;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=99191235;refseq.end_2=99191235;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=822;refseq.mrnaCoord_2=822;refseq.name2_1=LPPR5;refseq.name2_2=LPPR5;refseq.name_1=NM_001010861;refseq.name_2=NM_001037317;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V200V;refseq.proteinCoordStr_2=p.V200V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=99191235;refseq.start_2=99191235;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr1 100108949 . C T 99.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2147.85;QD=14.04;RankSumP=0.224082;SB=-786.53;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.894C>T;refseq.codingCoordStr_2=c.894C>T;refseq.codingCoordStr_3=c.894C>T;refseq.codingCoordStr_4=c.894C>T;refseq.codingCoordStr_5=c.843C>T;refseq.codingCoordStr_6=c.846C>T;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.codonCoord_3=298;refseq.codonCoord_4=298;refseq.codonCoord_5=281;refseq.codonCoord_6=282;refseq.end_1=100108949;refseq.end_2=100108949;refseq.end_3=100108949;refseq.end_4=100108949;refseq.end_5=100108949;refseq.end_6=100108949;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1372;refseq.mrnaCoord_2=1294;refseq.mrnaCoord_3=1092;refseq.mrnaCoord_4=1032;refseq.mrnaCoord_5=1105;refseq.mrnaCoord_6=1105;refseq.name2_1=AGL;refseq.name2_2=AGL;refseq.name2_3=AGL;refseq.name2_4=AGL;refseq.name2_5=AGL;refseq.name2_6=AGL;refseq.name_1=NM_000028;refseq.name_2=NM_000642;refseq.name_3=NM_000643;refseq.name_4=NM_000644;refseq.name_5=NM_000645;refseq.name_6=NM_000646;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L298L;refseq.proteinCoordStr_2=p.L298L;refseq.proteinCoordStr_3=p.L298L;refseq.proteinCoordStr_4=p.L298L;refseq.proteinCoordStr_5=p.L281L;refseq.proteinCoordStr_6=p.L282L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.spliceDist_5=48;refseq.spliceDist_6=48;refseq.start_1=100108949;refseq.start_2=100108949;refseq.start_3=100108949;refseq.start_4=100108949;refseq.start_5=100108949;refseq.start_6=100108949;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;refseq.variantCodon_6=CTT;set=Intersection GT 0/1 chr1 100148976 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.3821T>C;refseq.codingCoordStr_2=c.3821T>C;refseq.codingCoordStr_3=c.3821T>C;refseq.codingCoordStr_4=c.3821T>C;refseq.codingCoordStr_5=c.3770T>C;refseq.codingCoordStr_6=c.3773T>C;refseq.codonCoord_1=1274;refseq.codonCoord_2=1274;refseq.codonCoord_3=1274;refseq.codonCoord_4=1274;refseq.codonCoord_5=1257;refseq.codonCoord_6=1258;refseq.end_1=100148976;refseq.end_2=100148976;refseq.end_3=100148976;refseq.end_4=100148976;refseq.end_5=100148976;refseq.end_6=100148976;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4299;refseq.mrnaCoord_2=4221;refseq.mrnaCoord_3=4019;refseq.mrnaCoord_4=3959;refseq.mrnaCoord_5=4032;refseq.mrnaCoord_6=4032;refseq.name2_1=AGL;refseq.name2_2=AGL;refseq.name2_3=AGL;refseq.name2_4=AGL;refseq.name2_5=AGL;refseq.name2_6=AGL;refseq.name_1=NM_000028;refseq.name_2=NM_000642;refseq.name_3=NM_000643;refseq.name_4=NM_000644;refseq.name_5=NM_000645;refseq.name_6=NM_000646;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I1274T;refseq.proteinCoordStr_2=p.I1274T;refseq.proteinCoordStr_3=p.I1274T;refseq.proteinCoordStr_4=p.I1274T;refseq.proteinCoordStr_5=p.I1257T;refseq.proteinCoordStr_6=p.I1258T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.referenceCodon_6=ATC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.spliceDist_5=-16;refseq.spliceDist_6=-16;refseq.start_1=100148976;refseq.start_2=100148976;refseq.start_3=100148976;refseq.start_4=100148976;refseq.start_5=100148976;refseq.start_6=100148976;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;set=FilteredInAll GT 1/0 chr1 100154751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=7.07432e-05;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.4357T>G;refseq.codingCoordStr_2=c.4357T>G;refseq.codingCoordStr_3=c.4357T>G;refseq.codingCoordStr_4=c.4357T>G;refseq.codingCoordStr_5=c.4306T>G;refseq.codingCoordStr_6=c.4309T>G;refseq.codonCoord_1=1453;refseq.codonCoord_2=1453;refseq.codonCoord_3=1453;refseq.codonCoord_4=1453;refseq.codonCoord_5=1436;refseq.codonCoord_6=1437;refseq.end_1=100154751;refseq.end_2=100154751;refseq.end_3=100154751;refseq.end_4=100154751;refseq.end_5=100154751;refseq.end_6=100154751;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4835;refseq.mrnaCoord_2=4757;refseq.mrnaCoord_3=4555;refseq.mrnaCoord_4=4495;refseq.mrnaCoord_5=4568;refseq.mrnaCoord_6=4568;refseq.name2_1=AGL;refseq.name2_2=AGL;refseq.name2_3=AGL;refseq.name2_4=AGL;refseq.name2_5=AGL;refseq.name2_6=AGL;refseq.name_1=NM_000028;refseq.name_2=NM_000642;refseq.name_3=NM_000643;refseq.name_4=NM_000644;refseq.name_5=NM_000645;refseq.name_6=NM_000646;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.W1453G;refseq.proteinCoordStr_2=p.W1453G;refseq.proteinCoordStr_3=p.W1453G;refseq.proteinCoordStr_4=p.W1453G;refseq.proteinCoordStr_5=p.W1436G;refseq.proteinCoordStr_6=p.W1437G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceAA_5=Trp;refseq.referenceAA_6=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.referenceCodon_5=TGG;refseq.referenceCodon_6=TGG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceDist_5=10;refseq.spliceDist_6=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.spliceInfo_5=splice-acceptor_10;refseq.spliceInfo_6=splice-acceptor_10;refseq.start_1=100154751;refseq.start_2=100154751;refseq.start_3=100154751;refseq.start_4=100154751;refseq.start_5=100154751;refseq.start_6=100154751;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr1 100348521 . G A 428.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5557.95;QD=42.11;RankSumP=1.00000;SB=-2318.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.776C>T;refseq.codonCoord=259;refseq.end=100348521;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_194292;refseq.name2=SASS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A259V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-86;refseq.start=100348521;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 100371454 . G A 386.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=97.60;MQ0=0;OQ=2403.44;QD=38.77;RankSumP=1.00000;SB=-590.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.142G>A;refseq.codonCoord=48;refseq.end=100371454;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_019083;refseq.name2=CCDC76;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=100371454;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 100371455 . C T 372.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.60;MQ0=0;OQ=2451.98;QD=39.55;RankSumP=1.00000;SB=-578.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.143C>T;refseq.codonCoord=48;refseq.end=100371455;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=162;refseq.name=NM_019083;refseq.name2=CCDC76;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=100371455;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 100444648 . T C 325.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5661.07;QD=41.02;RankSumP=1.00000;SB=-2580.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1150A>G;refseq.codonCoord=384;refseq.end=100444648;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_001918;refseq.name2=DBT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S384G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-60;refseq.start=100444648;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 100513762 . C G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.01390e-07;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.674C>G;refseq.codingCoordStr_2=c.635C>G;refseq.codonCoord_1=225;refseq.codonCoord_2=212;refseq.end_1=100513762;refseq.end_2=100513762;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=892;refseq.mrnaCoord_2=853;refseq.name2_1=RTCD1;refseq.name2_2=RTCD1;refseq.name_1=NM_001130841;refseq.name_2=NM_003729;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A225G;refseq.proteinCoordStr_2=p.A212G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=100513762;refseq.start_2=100513762;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 100969447 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1310A>G;refseq.codingCoordStr_2=c.1034A>G;refseq.codonCoord_1=437;refseq.codonCoord_2=345;refseq.end_1=100969447;refseq.end_2=100969447;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1430;refseq.mrnaCoord_2=1154;refseq.name2_1=VCAM1;refseq.name2_2=VCAM1;refseq.name_1=NM_001078;refseq.name_2=NM_080682;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E437G;refseq.proteinCoordStr_2=p.E345G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=100969447;refseq.start_2=100969447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 100976337 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2130A>C;refseq.codingCoordStr_2=c.1854A>C;refseq.codonCoord_1=710;refseq.codonCoord_2=618;refseq.end_1=100976337;refseq.end_2=100976337;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2250;refseq.mrnaCoord_2=1974;refseq.name2_1=VCAM1;refseq.name2_2=VCAM1;refseq.name_1=NM_001078;refseq.name_2=NM_080682;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I710I;refseq.proteinCoordStr_2=p.I618I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=100976337;refseq.start_2=100976337;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT 0/1 chr1 100976415 . G A 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=2;HaplotypeScore=5.13;MQ=98.82;MQ0=0;OQ=15257.47;QD=42.74;RankSumP=1.00000;SB=-6296.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2208G>A;refseq.codingCoordStr_2=c.1932G>A;refseq.codonCoord_1=736;refseq.codonCoord_2=644;refseq.end_1=100976415;refseq.end_2=100976415;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2328;refseq.mrnaCoord_2=2052;refseq.name2_1=VCAM1;refseq.name2_2=VCAM1;refseq.name_1=NM_001078;refseq.name_2=NM_080682;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K736K;refseq.proteinCoordStr_2=p.K644K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=100976415;refseq.start_2=100976415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr1 103117970 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.4783A>C;refseq.codingCoordStr_2=c.5131A>C;refseq.codingCoordStr_3=c.5167A>C;refseq.codingCoordStr_4=c.5014A>C;refseq.codonCoord_1=1595;refseq.codonCoord_2=1711;refseq.codonCoord_3=1723;refseq.codonCoord_4=1672;refseq.end_1=103117970;refseq.end_2=103117970;refseq.end_3=103117970;refseq.end_4=103117970;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5101;refseq.mrnaCoord_2=5449;refseq.mrnaCoord_3=5485;refseq.mrnaCoord_4=5332;refseq.name2_1=COL11A1;refseq.name2_2=COL11A1;refseq.name2_3=COL11A1;refseq.name2_4=COL11A1;refseq.name_1=NM_001168249;refseq.name_2=NM_001854;refseq.name_3=NM_080629;refseq.name_4=NM_080630;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1595P;refseq.proteinCoordStr_2=p.T1711P;refseq.proteinCoordStr_3=p.T1723P;refseq.proteinCoordStr_4=p.T1672P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.spliceDist_3=91;refseq.spliceDist_4=91;refseq.start_1=103117970;refseq.start_2=103117970;refseq.start_3=103117970;refseq.start_4=103117970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr1 103126726 . A G 165.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=3072.29;QD=17.26;RankSumP=0.130466;SB=-970.53;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.4255T>C;refseq.codingCoordStr_2=c.4603T>C;refseq.codingCoordStr_3=c.4639T>C;refseq.codingCoordStr_4=c.4486T>C;refseq.codonCoord_1=1419;refseq.codonCoord_2=1535;refseq.codonCoord_3=1547;refseq.codonCoord_4=1496;refseq.end_1=103126726;refseq.end_2=103126726;refseq.end_3=103126726;refseq.end_4=103126726;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4573;refseq.mrnaCoord_2=4921;refseq.mrnaCoord_3=4957;refseq.mrnaCoord_4=4804;refseq.name2_1=COL11A1;refseq.name2_2=COL11A1;refseq.name2_3=COL11A1;refseq.name2_4=COL11A1;refseq.name_1=NM_001168249;refseq.name_2=NM_001854;refseq.name_3=NM_080629;refseq.name_4=NM_080630;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S1419P;refseq.proteinCoordStr_2=p.S1535P;refseq.proteinCoordStr_3=p.S1547P;refseq.proteinCoordStr_4=p.S1496P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceDist_4=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.spliceInfo_4=splice-donor_-6;refseq.start_1=103126726;refseq.start_2=103126726;refseq.start_3=103126726;refseq.start_4=103126726;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 0/1 chr1 103127016 . A G 225.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=579;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=98.84;MQ0=0;OQ=12250.35;QD=21.16;RankSumP=0.0719995;SB=-3876.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.4164T>C;refseq.codingCoordStr_2=c.4512T>C;refseq.codingCoordStr_3=c.4548T>C;refseq.codingCoordStr_4=c.4395T>C;refseq.codonCoord_1=1388;refseq.codonCoord_2=1504;refseq.codonCoord_3=1516;refseq.codonCoord_4=1465;refseq.end_1=103127016;refseq.end_2=103127016;refseq.end_3=103127016;refseq.end_4=103127016;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4482;refseq.mrnaCoord_2=4830;refseq.mrnaCoord_3=4866;refseq.mrnaCoord_4=4713;refseq.name2_1=COL11A1;refseq.name2_2=COL11A1;refseq.name2_3=COL11A1;refseq.name2_4=COL11A1;refseq.name_1=NM_001168249;refseq.name_2=NM_001854;refseq.name_3=NM_080629;refseq.name_4=NM_080630;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G1388G;refseq.proteinCoordStr_2=p.G1504G;refseq.proteinCoordStr_3=p.G1516G;refseq.proteinCoordStr_4=p.G1465G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceDist_4=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.spliceInfo_4=splice-donor_-7;refseq.start_1=103127016;refseq.start_2=103127016;refseq.start_3=103127016;refseq.start_4=103127016;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=Intersection GT 0/1 chr1 103178480 . G A 258.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=97.50;MQ0=0;OQ=2128.36;QD=18.84;RankSumP=0.193351;SB=-481.54;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.3027C>T;refseq.codingCoordStr_2=c.3375C>T;refseq.codingCoordStr_3=c.3411C>T;refseq.codingCoordStr_4=c.3258C>T;refseq.codonCoord_1=1009;refseq.codonCoord_2=1125;refseq.codonCoord_3=1137;refseq.codonCoord_4=1086;refseq.end_1=103178480;refseq.end_2=103178480;refseq.end_3=103178480;refseq.end_4=103178480;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3345;refseq.mrnaCoord_2=3693;refseq.mrnaCoord_3=3729;refseq.mrnaCoord_4=3576;refseq.name2_1=COL11A1;refseq.name2_2=COL11A1;refseq.name2_3=COL11A1;refseq.name2_4=COL11A1;refseq.name_1=NM_001168249;refseq.name_2=NM_001854;refseq.name_3=NM_080629;refseq.name_4=NM_080630;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D1009D;refseq.proteinCoordStr_2=p.D1125D;refseq.proteinCoordStr_3=p.D1137D;refseq.proteinCoordStr_4=p.D1086D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=103178480;refseq.start_2=103178480;refseq.start_3=103178480;refseq.start_4=103178480;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/0 chr1 103240924 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=300;Dels=0.00;HRun=2;HaplotypeScore=37.46;MQ=96.80;MQ0=0;OQ=465.47;QD=1.55;RankSumP=0.00000;SB=432.39;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1662T>G;refseq.codingCoordStr_2=c.2010T>G;refseq.codingCoordStr_3=c.2046T>G;refseq.codingCoordStr_4=c.1893T>G;refseq.codonCoord_1=554;refseq.codonCoord_2=670;refseq.codonCoord_3=682;refseq.codonCoord_4=631;refseq.end_1=103240924;refseq.end_2=103240924;refseq.end_3=103240924;refseq.end_4=103240924;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1980;refseq.mrnaCoord_2=2328;refseq.mrnaCoord_3=2364;refseq.mrnaCoord_4=2211;refseq.name2_1=COL11A1;refseq.name2_2=COL11A1;refseq.name2_3=COL11A1;refseq.name2_4=COL11A1;refseq.name_1=NM_001168249;refseq.name_2=NM_001854;refseq.name_3=NM_080629;refseq.name_4=NM_080630;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G554G;refseq.proteinCoordStr_2=p.G670G;refseq.proteinCoordStr_3=p.G682G;refseq.proteinCoordStr_4=p.G631G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.start_1=103240924;refseq.start_2=103240924;refseq.start_3=103240924;refseq.start_4=103240924;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr1 104031684 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.401199;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1446C>T;refseq.codingCoordStr_2=c.1446C>T;refseq.codingCoordStr_3=c.1446C>T;refseq.codingCoordStr_4=c.1446C>T;refseq.codonCoord_1=482;refseq.codonCoord_2=482;refseq.codonCoord_3=482;refseq.codonCoord_4=482;refseq.end_1=104031684;refseq.end_2=104031684;refseq.end_3=104031684;refseq.end_4=104031684;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1718;refseq.mrnaCoord_2=1740;refseq.mrnaCoord_3=1660;refseq.mrnaCoord_4=1741;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I482I;refseq.proteinCoordStr_2=p.I482I;refseq.proteinCoordStr_3=p.I482I;refseq.proteinCoordStr_4=p.I482I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.spliceDist_3=100;refseq.spliceDist_4=100;refseq.start_1=104031684;refseq.start_2=104031684;refseq.start_3=104031684;refseq.start_4=104031684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=soap GT 1/0 chr1 104031702 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.430499;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1428C>T;refseq.codingCoordStr_2=c.1428C>T;refseq.codingCoordStr_3=c.1428C>T;refseq.codingCoordStr_4=c.1428C>T;refseq.codonCoord_1=476;refseq.codonCoord_2=476;refseq.codonCoord_3=476;refseq.codonCoord_4=476;refseq.end_1=104031702;refseq.end_2=104031702;refseq.end_3=104031702;refseq.end_4=104031702;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1700;refseq.mrnaCoord_2=1722;refseq.mrnaCoord_3=1642;refseq.mrnaCoord_4=1723;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N476N;refseq.proteinCoordStr_2=p.N476N;refseq.proteinCoordStr_3=p.N476N;refseq.proteinCoordStr_4=p.N476N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.spliceDist_4=82;refseq.start_1=104031702;refseq.start_2=104031702;refseq.start_3=104031702;refseq.start_4=104031702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=soap GT 1/0 chr1 104031782 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.280712;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1348A>T;refseq.codingCoordStr_2=c.1348A>T;refseq.codingCoordStr_3=c.1348A>T;refseq.codingCoordStr_4=c.1348A>T;refseq.codonCoord_1=450;refseq.codonCoord_2=450;refseq.codonCoord_3=450;refseq.codonCoord_4=450;refseq.end_1=104031782;refseq.end_2=104031782;refseq.end_3=104031782;refseq.end_4=104031782;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1620;refseq.mrnaCoord_2=1642;refseq.mrnaCoord_3=1562;refseq.mrnaCoord_4=1643;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T450S;refseq.proteinCoordStr_2=p.T450S;refseq.proteinCoordStr_3=p.T450S;refseq.proteinCoordStr_4=p.T450S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.start_1=104031782;refseq.start_2=104031782;refseq.start_3=104031782;refseq.start_4=104031782;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=soap GT 1/0 chr1 104033180 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.183459;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1269C>T;refseq.codingCoordStr_2=c.1269C>T;refseq.codingCoordStr_3=c.1269C>T;refseq.codingCoordStr_4=c.1269C>T;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.codonCoord_3=423;refseq.codonCoord_4=423;refseq.end_1=104033180;refseq.end_2=104033180;refseq.end_3=104033180;refseq.end_4=104033180;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1541;refseq.mrnaCoord_2=1563;refseq.mrnaCoord_3=1483;refseq.mrnaCoord_4=1564;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N423N;refseq.proteinCoordStr_2=p.N423N;refseq.proteinCoordStr_3=p.N423N;refseq.proteinCoordStr_4=p.N423N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.spliceDist_4=49;refseq.start_1=104033180;refseq.start_2=104033180;refseq.start_3=104033180;refseq.start_4=104033180;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=soap GT 1/0 chr1 104033217 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.413289;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1232A>T;refseq.codingCoordStr_2=c.1232A>T;refseq.codingCoordStr_3=c.1232A>T;refseq.codingCoordStr_4=c.1232A>T;refseq.codonCoord_1=411;refseq.codonCoord_2=411;refseq.codonCoord_3=411;refseq.codonCoord_4=411;refseq.end_1=104033217;refseq.end_2=104033217;refseq.end_3=104033217;refseq.end_4=104033217;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1504;refseq.mrnaCoord_2=1526;refseq.mrnaCoord_3=1446;refseq.mrnaCoord_4=1527;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N411I;refseq.proteinCoordStr_2=p.N411I;refseq.proteinCoordStr_3=p.N411I;refseq.proteinCoordStr_4=p.N411I;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.start_1=104033217;refseq.start_2=104033217;refseq.start_3=104033217;refseq.start_4=104033217;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=soap GT 1/0 chr1 104033414 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.398407;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1145C>T;refseq.codingCoordStr_2=c.1145C>T;refseq.codingCoordStr_3=c.1145C>T;refseq.codingCoordStr_4=c.1145C>T;refseq.codonCoord_1=382;refseq.codonCoord_2=382;refseq.codonCoord_3=382;refseq.codonCoord_4=382;refseq.end_1=104033414;refseq.end_2=104033414;refseq.end_3=104033414;refseq.end_4=104033414;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1417;refseq.mrnaCoord_2=1439;refseq.mrnaCoord_3=1359;refseq.mrnaCoord_4=1440;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T382I;refseq.proteinCoordStr_2=p.T382I;refseq.proteinCoordStr_3=p.T382I;refseq.proteinCoordStr_4=p.T382I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.start_1=104033414;refseq.start_2=104033414;refseq.start_3=104033414;refseq.start_4=104033414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=soap GT 1/0 chr1 104033427 . C T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00528146;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1132G>A;refseq.codingCoordStr_2=c.1132G>A;refseq.codingCoordStr_3=c.1132G>A;refseq.codingCoordStr_4=c.1132G>A;refseq.codonCoord_1=378;refseq.codonCoord_2=378;refseq.codonCoord_3=378;refseq.codonCoord_4=378;refseq.end_1=104033427;refseq.end_2=104033427;refseq.end_3=104033427;refseq.end_4=104033427;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1404;refseq.mrnaCoord_2=1426;refseq.mrnaCoord_3=1346;refseq.mrnaCoord_4=1427;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D378N;refseq.proteinCoordStr_2=p.D378N;refseq.proteinCoordStr_3=p.D378N;refseq.proteinCoordStr_4=p.D378N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=104033427;refseq.start_2=104033427;refseq.start_3=104033427;refseq.start_4=104033427;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=FilteredInAll GT 0/1 chr1 104035653 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.167490;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.981A>T;refseq.codingCoordStr_2=c.981A>T;refseq.codingCoordStr_3=c.981A>T;refseq.codingCoordStr_4=c.981A>T;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.codonCoord_3=327;refseq.codonCoord_4=327;refseq.end_1=104035653;refseq.end_2=104035653;refseq.end_3=104035653;refseq.end_4=104035653;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1253;refseq.mrnaCoord_2=1275;refseq.mrnaCoord_3=1195;refseq.mrnaCoord_4=1276;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I327I;refseq.proteinCoordStr_2=p.I327I;refseq.proteinCoordStr_3=p.I327I;refseq.proteinCoordStr_4=p.I327I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.start_1=104035653;refseq.start_2=104035653;refseq.start_3=104035653;refseq.start_4=104035653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=soap GT 1/0 chr1 104035671 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.0270964;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.963C>G;refseq.codingCoordStr_2=c.963C>G;refseq.codingCoordStr_3=c.963C>G;refseq.codingCoordStr_4=c.963C>G;refseq.codonCoord_1=321;refseq.codonCoord_2=321;refseq.codonCoord_3=321;refseq.codonCoord_4=321;refseq.end_1=104035671;refseq.end_2=104035671;refseq.end_3=104035671;refseq.end_4=104035671;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1235;refseq.mrnaCoord_2=1257;refseq.mrnaCoord_3=1177;refseq.mrnaCoord_4=1258;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G321G;refseq.proteinCoordStr_2=p.G321G;refseq.proteinCoordStr_3=p.G321G;refseq.proteinCoordStr_4=p.G321G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.start_1=104035671;refseq.start_2=104035671;refseq.start_3=104035671;refseq.start_4=104035671;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=soap GT 0/1 chr1 104035713 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.399437;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.921G>A;refseq.codingCoordStr_2=c.921G>A;refseq.codingCoordStr_3=c.921G>A;refseq.codingCoordStr_4=c.921G>A;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.codonCoord_3=307;refseq.codonCoord_4=307;refseq.end_1=104035713;refseq.end_2=104035713;refseq.end_3=104035713;refseq.end_4=104035713;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1193;refseq.mrnaCoord_2=1215;refseq.mrnaCoord_3=1135;refseq.mrnaCoord_4=1216;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A307A;refseq.proteinCoordStr_2=p.A307A;refseq.proteinCoordStr_3=p.A307A;refseq.proteinCoordStr_4=p.A307A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.start_1=104035713;refseq.start_2=104035713;refseq.start_3=104035713;refseq.start_4=104035713;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=soap GT 0/1 chr1 104035728 . C T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.296249;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.906G>A;refseq.codingCoordStr_2=c.906G>A;refseq.codingCoordStr_3=c.906G>A;refseq.codingCoordStr_4=c.906G>A;refseq.codonCoord_1=302;refseq.codonCoord_2=302;refseq.codonCoord_3=302;refseq.codonCoord_4=302;refseq.end_1=104035728;refseq.end_2=104035728;refseq.end_3=104035728;refseq.end_4=104035728;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1178;refseq.mrnaCoord_2=1200;refseq.mrnaCoord_3=1120;refseq.mrnaCoord_4=1201;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M302I;refseq.proteinCoordStr_2=p.M302I;refseq.proteinCoordStr_3=p.M302I;refseq.proteinCoordStr_4=p.M302I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=28;refseq.start_1=104035728;refseq.start_2=104035728;refseq.start_3=104035728;refseq.start_4=104035728;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=FilteredInAll GT 0/1 chr1 104035730 . T C 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.326450;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.904A>G;refseq.codingCoordStr_2=c.904A>G;refseq.codingCoordStr_3=c.904A>G;refseq.codingCoordStr_4=c.904A>G;refseq.codonCoord_1=302;refseq.codonCoord_2=302;refseq.codonCoord_3=302;refseq.codonCoord_4=302;refseq.end_1=104035730;refseq.end_2=104035730;refseq.end_3=104035730;refseq.end_4=104035730;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1176;refseq.mrnaCoord_2=1198;refseq.mrnaCoord_3=1118;refseq.mrnaCoord_4=1199;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M302V;refseq.proteinCoordStr_2=p.M302V;refseq.proteinCoordStr_3=p.M302V;refseq.proteinCoordStr_4=p.M302V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.start_1=104035730;refseq.start_2=104035730;refseq.start_3=104035730;refseq.start_4=104035730;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=FilteredInAll GT 1/0 chr1 104037558 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.445522;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.631A>C;refseq.codingCoordStr_2=c.631A>C;refseq.codingCoordStr_3=c.631A>C;refseq.codingCoordStr_4=c.631A>C;refseq.codonCoord_1=211;refseq.codonCoord_2=211;refseq.codonCoord_3=211;refseq.codonCoord_4=211;refseq.end_1=104037558;refseq.end_2=104037558;refseq.end_3=104037558;refseq.end_4=104037558;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=903;refseq.mrnaCoord_2=925;refseq.mrnaCoord_3=845;refseq.mrnaCoord_4=926;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I211L;refseq.proteinCoordStr_2=p.I211L;refseq.proteinCoordStr_3=p.I211L;refseq.proteinCoordStr_4=p.I211L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.spliceDist_3=-114;refseq.spliceDist_4=-114;refseq.start_1=104037558;refseq.start_2=104037558;refseq.start_3=104037558;refseq.start_4=104037558;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;set=soap GT 1/0 chr1 104037622 . A G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.376981;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.567T>C;refseq.codingCoordStr_2=c.567T>C;refseq.codingCoordStr_3=c.567T>C;refseq.codingCoordStr_4=c.567T>C;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.codonCoord_3=189;refseq.codonCoord_4=189;refseq.end_1=104037622;refseq.end_2=104037622;refseq.end_3=104037622;refseq.end_4=104037622;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=839;refseq.mrnaCoord_2=861;refseq.mrnaCoord_3=781;refseq.mrnaCoord_4=862;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y189Y;refseq.proteinCoordStr_2=p.Y189Y;refseq.proteinCoordStr_3=p.Y189Y;refseq.proteinCoordStr_4=p.Y189Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.start_1=104037622;refseq.start_2=104037622;refseq.start_3=104037622;refseq.start_4=104037622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=soap GT 0/1 chr1 104039137 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.439886;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.303C>T;refseq.codingCoordStr_2=c.303C>T;refseq.codingCoordStr_3=c.303C>T;refseq.codingCoordStr_4=c.303C>T;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.codonCoord_3=101;refseq.codonCoord_4=101;refseq.end_1=104039137;refseq.end_2=104039137;refseq.end_3=104039137;refseq.end_4=104039137;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=575;refseq.mrnaCoord_2=597;refseq.mrnaCoord_3=517;refseq.mrnaCoord_4=598;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C101C;refseq.proteinCoordStr_2=p.C101C;refseq.proteinCoordStr_3=p.C101C;refseq.proteinCoordStr_4=p.C101C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.start_1=104039137;refseq.start_2=104039137;refseq.start_3=104039137;refseq.start_4=104039137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=soap GT 1/0 chr1 104039241 . G A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.411768;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.199C>T;refseq.codingCoordStr_2=c.199C>T;refseq.codingCoordStr_3=c.199C>T;refseq.codingCoordStr_4=c.199C>T;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.codonCoord_3=67;refseq.codonCoord_4=67;refseq.end_1=104039241;refseq.end_2=104039241;refseq.end_3=104039241;refseq.end_4=104039241;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=471;refseq.mrnaCoord_2=493;refseq.mrnaCoord_3=413;refseq.mrnaCoord_4=494;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H67Y;refseq.proteinCoordStr_2=p.H67Y;refseq.proteinCoordStr_3=p.H67Y;refseq.proteinCoordStr_4=p.H67Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=104039241;refseq.start_2=104039241;refseq.start_3=104039241;refseq.start_4=104039241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=FilteredInAll GT 1/0 chr1 104039245 . G T 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.400378;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.195C>A;refseq.codingCoordStr_2=c.195C>A;refseq.codingCoordStr_3=c.195C>A;refseq.codingCoordStr_4=c.195C>A;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.codonCoord_3=65;refseq.codonCoord_4=65;refseq.end_1=104039245;refseq.end_2=104039245;refseq.end_3=104039245;refseq.end_4=104039245;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=489;refseq.mrnaCoord_3=409;refseq.mrnaCoord_4=490;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A65A;refseq.proteinCoordStr_2=p.A65A;refseq.proteinCoordStr_3=p.A65A;refseq.proteinCoordStr_4=p.A65A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=104039245;refseq.start_2=104039245;refseq.start_3=104039245;refseq.start_4=104039245;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=soap GT 0/1 chr1 104039710 . T C 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.449487;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.75A>G;refseq.codingCoordStr_2=c.75A>G;refseq.codingCoordStr_3=c.75A>G;refseq.codingCoordStr_4=c.75A>G;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.codonCoord_3=25;refseq.codonCoord_4=25;refseq.end_1=104039710;refseq.end_2=104039710;refseq.end_3=104039710;refseq.end_4=104039710;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=347;refseq.mrnaCoord_2=369;refseq.mrnaCoord_3=289;refseq.mrnaCoord_4=370;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R25R;refseq.proteinCoordStr_2=p.R25R;refseq.proteinCoordStr_3=p.R25R;refseq.proteinCoordStr_4=p.R25R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.spliceDist_3=-94;refseq.spliceDist_4=-94;refseq.start_1=104039710;refseq.start_2=104039710;refseq.start_3=104039710;refseq.start_4=104039710;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=soap GT 1/0 chr1 104039730 . A G 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.708875;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.55T>C;refseq.codingCoordStr_2=c.55T>C;refseq.codingCoordStr_3=c.55T>C;refseq.codingCoordStr_4=c.55T>C;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.codonCoord_3=19;refseq.codonCoord_4=19;refseq.end_1=104039730;refseq.end_2=104039730;refseq.end_3=104039730;refseq.end_4=104039730;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=327;refseq.mrnaCoord_2=349;refseq.mrnaCoord_3=269;refseq.mrnaCoord_4=350;refseq.name2_1=AMY1B;refseq.name2_2=AMY1C;refseq.name2_3=AMY1A;refseq.name2_4=AMY1A;refseq.name_1=NM_001008218;refseq.name_2=NM_001008219;refseq.name_3=NM_001008221;refseq.name_4=NM_004038;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S19P;refseq.proteinCoordStr_2=p.S19P;refseq.proteinCoordStr_3=p.S19P;refseq.proteinCoordStr_4=p.S19P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.spliceDist_3=101;refseq.spliceDist_4=101;refseq.start_1=104039730;refseq.start_2=104039730;refseq.start_3=104039730;refseq.start_4=104039730;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=soap GT 0/1 chr1 107401441 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=1371.52;QD=12.14;RankSumP=0.107832;SB=-624.50;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.581C>T;refseq.codonCoord=194;refseq.end=107401441;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_018137;refseq.name2=PRMT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A194V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=652;refseq.start=107401441;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr1 107986824 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=550;Dels=0.00;HRun=1;HaplotypeScore=14.77;MQ=98.76;MQ0=0;OQ=12694.92;QD=23.08;RankSumP=0.195175;SB=-3906.17;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.174G>C;refseq.codingCoordStr_2=c.1854G>C;refseq.codonCoord_1=58;refseq.codonCoord_2=618;refseq.end_1=107986824;refseq.end_2=107986824;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=247;refseq.mrnaCoord_2=1908;refseq.name2_1=VAV3;refseq.name2_2=VAV3;refseq.name_1=NM_001079874;refseq.name_2=NM_006113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q58H;refseq.proteinCoordStr_2=p.Q618H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=107986824;refseq.start_2=107986824;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr1 108109250 . T A 312.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.82;MQ0=0;OQ=9073.71;QD=40.15;RankSumP=1.00000;SB=-2934.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.892A>T;refseq.codonCoord=298;refseq.end=108109250;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_006113;refseq.name2=VAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T298S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-30;refseq.start=108109250;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 108114781 . C T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=4;HaplotypeScore=3.33;MQ=98.72;MQ0=0;OQ=4841.99;QD=42.85;RankSumP=1.00000;SB=-631.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.648G>A;refseq.codonCoord=216;refseq.end=108114781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_006113;refseq.name2=VAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K216K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=108114781;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 108483331 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1121A>G;refseq.codingCoordStr_2=c.1064A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=355;refseq.end_1=108483331;refseq.end_2=108483331;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1335;refseq.mrnaCoord_2=1184;refseq.name2_1=SLC25A24;refseq.name2_2=SLC25A24;refseq.name_1=NM_013386;refseq.name_2=NM_213651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D374G;refseq.proteinCoordStr_2=p.D355G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=108483331;refseq.start_2=108483331;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr1 108505357 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=13.96;MQ=98.88;MQ0=0;OQ=6099.17;QD=21.63;RankSumP=0.250451;SB=-1664.25;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.480G>A;refseq.codingCoordStr_2=c.423G>A;refseq.codonCoord_1=160;refseq.codonCoord_2=141;refseq.end_1=108505357;refseq.end_2=108505357;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=694;refseq.mrnaCoord_2=543;refseq.name2_1=SLC25A24;refseq.name2_2=SLC25A24;refseq.name_1=NM_013386;refseq.name_2=NM_213651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E160E;refseq.proteinCoordStr_2=p.E141E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=108505357;refseq.start_2=108505357;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr1 108530007 . T C 137.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=803.01;QD=21.70;RankSumP=0.664314;SB=-352.49;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.276A>G;refseq.codingCoordStr_2=c.219A>G;refseq.codonCoord_1=92;refseq.codonCoord_2=73;refseq.end_1=108530007;refseq.end_2=108530007;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=339;refseq.name2_1=SLC25A24;refseq.name2_2=SLC25A24;refseq.name_1=NM_013386;refseq.name_2=NM_213651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K92K;refseq.proteinCoordStr_2=p.K73K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=108530007;refseq.start_2=108530007;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr1 108904676 . C G 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=1;RankSumP=0.458109;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.103C>G;refseq.codonCoord=35;refseq.end=108904676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_001010883;refseq.name2=FAM102B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L35V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-35;refseq.start=108904676;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr1 109070096 . T C 181.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=407;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=98.80;MQ0=0;OQ=16385.31;QD=40.26;RankSumP=1.00000;SB=-6397.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1058T>C;refseq.codonCoord=353;refseq.end=109070096;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_001144937;refseq.name2=FNDC7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V353A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-54;refseq.start=109070096;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 109074979 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=2;HaplotypeScore=6.65;MQ=98.99;MQ0=0;OQ=8926.37;QD=18.29;RankSumP=0.237637;SB=-3132.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1785A>G;refseq.codonCoord=595;refseq.end=109074979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_001144937;refseq.name2=FNDC7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G595G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-95;refseq.start=109074979;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 109140384 . G C 258.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=4.35;MQ=98.82;MQ0=0;OQ=4903.54;QD=19.69;RankSumP=0.418801;SB=-1652.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1116G>C;refseq.codonCoord=372;refseq.end=109140384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1191;refseq.name=NM_007269;refseq.name2=STXBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L372L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=109140384;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 109167809 . C T 364.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=98.58;MQ0=0;OQ=6052.29;QD=19.46;RankSumP=0.0352182;SB=-2400.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1961G>A;refseq.codonCoord=654;refseq.end=109167809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2230;refseq.name=NM_152763;refseq.name2=AKNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C654Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=25;refseq.start=109167809;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr1 109171438 . G T 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=1456.09;QD=38.32;RankSumP=1.00000;SB=-442.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1848C>A;refseq.codonCoord=616;refseq.end=109171438;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2117;refseq.name=NM_152763;refseq.name2=AKNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N616K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=109171438;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr1 109178593 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=96.45;MQ0=0;OQ=399.10;QD=8.49;RankSumP=0.595575;SB=-5.84;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1745G>T;refseq.codonCoord=582;refseq.end=109178593;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2014;refseq.name=NM_152763;refseq.name2=AKNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G582V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=109178593;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 109196087 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=640;Dels=0.00;HRun=0;HaplotypeScore=17.38;MQ=98.77;MQ0=0;OQ=12984.53;QD=20.29;RankSumP=0.481709;SB=-5334.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.723A>G;refseq.codonCoord=241;refseq.end=109196087;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_152763;refseq.name2=AKNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A241A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-271;refseq.start=109196087;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr1 109196628 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=1;HaplotypeScore=13.85;MQ=99.00;MQ0=0;OQ=10101.03;QD=21.72;RankSumP=0.485039;SB=-3625.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.182G>A;refseq.codonCoord=61;refseq.end=109196628;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_152763;refseq.name2=AKNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S61N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=285;refseq.start=109196628;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 109268274 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1730A>C;refseq.codonCoord=577;refseq.end=109268274;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2226;refseq.name=NM_013296;refseq.name2=GPSM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N577T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-86;refseq.start=109268274;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 109278989 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1482C>A;refseq.codingCoordStr_2=c.1332C>A;refseq.codonCoord_1=494;refseq.codonCoord_2=444;refseq.end_1=109278989;refseq.end_2=109278989;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1612;refseq.mrnaCoord_2=1472;refseq.name2_1=CLCC1;refseq.name2_2=CLCC1;refseq.name_1=NM_001048210;refseq.name_2=NM_015127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A494A;refseq.proteinCoordStr_2=p.A444A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=109278989;refseq.start_2=109278989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 0/1 chr1 109281501 . G T 228.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=15.42;MQ=98.48;MQ0=0;OQ=6927.62;QD=15.46;RankSumP=0.0657570;SB=-2046.09;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1104C>A;refseq.codingCoordStr_2=c.954C>A;refseq.codonCoord_1=368;refseq.codonCoord_2=318;refseq.end_1=109281501;refseq.end_2=109281501;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1234;refseq.mrnaCoord_2=1094;refseq.name2_1=CLCC1;refseq.name2_2=CLCC1;refseq.name_1=NM_001048210;refseq.name_2=NM_015127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S368R;refseq.proteinCoordStr_2=p.S318R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=109281501;refseq.start_2=109281501;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr1 109287719 . A G 120.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=9.88;MQ=93.36;MQ0=0;OQ=3934.05;QD=24.90;RankSumP=1.00000;SB=-1094.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.603T>C;refseq.codingCoordStr_2=c.453T>C;refseq.codonCoord_1=201;refseq.codonCoord_2=151;refseq.end_1=109287719;refseq.end_2=109287719;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=593;refseq.name2_1=CLCC1;refseq.name2_2=CLCC1;refseq.name_1=NM_001048210;refseq.name_2=NM_015127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T201T;refseq.proteinCoordStr_2=p.T151T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=109287719;refseq.start_2=109287719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr1 109287720 . G T 40 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=159;Dels=0.00;HRun=1;HaplotypeScore=6.39;MQ=93.25;MQ0=0;OQ=224.81;QD=1.41;RankSumP=0.000171221;SB=218.74;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.602C>A;refseq.codingCoordStr_2=c.452C>A;refseq.codonCoord_1=201;refseq.codonCoord_2=151;refseq.end_1=109287720;refseq.end_2=109287720;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=592;refseq.name2_1=CLCC1;refseq.name2_2=CLCC1;refseq.name_1=NM_001048210;refseq.name_2=NM_015127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T201N;refseq.proteinCoordStr_2=p.T151N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=109287720;refseq.start_2=109287720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 0/1 chr1 109452171 . A T 27.08 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=240;Dels=0.00;HRun=2;HaplotypeScore=27.41;MQ=4.29;MQ0=232;QD=0.11;RankSumP=0.440090;SB=-10.00;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.57T>A;refseq.codonCoord=19;refseq.end=109452171;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_001122961;refseq.name2=C1orf194;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y19*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=12;refseq.start=109452171;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr1 109506141 . A G 341.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=4.35;MQ=98.40;MQ0=0;OQ=7018.21;QD=34.74;RankSumP=1.00000;SB=-2653.37;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.256A>G;refseq.codonCoord=86;refseq.end=109506141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.I86V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-19;refseq.start=109506141;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 109536821 . T C 281.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.16;MQ0=0;OQ=11007.76;QD=36.82;RankSumP=1.00000;SB=-4657.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1749T>C;refseq.codonCoord=583;refseq.end=109536821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1970;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.G583G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=66;refseq.start=109536821;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 109536921 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1849A>C;refseq.codonCoord=617;refseq.end=109536921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2070;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.T617P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-99;refseq.start=109536921;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 109536939 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=4;HaplotypeScore=8.15;MQ=97.31;MQ0=0;OQ=12568.90;QD=40.81;RankSumP=1.00000;SB=-6078.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1867A>C;refseq.codonCoord=623;refseq.end=109536939;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2088;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.T623P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-81;refseq.start=109536939;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 109538586 . C T 271.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=11.23;MQ=98.46;MQ0=0;OQ=13661.31;QD=39.83;RankSumP=1.00000;SB=-5447.79;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1968C>T;refseq.codonCoord=656;refseq.end=109538586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2189;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.N656N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=21;refseq.start=109538586;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 109538613 . G A 128.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=8.18;MQ=98.72;MQ0=0;OQ=15733.65;QD=41.73;RankSumP=1.00000;SB=-7107.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1995G>A;refseq.codonCoord=665;refseq.end=109538613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2216;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.P665P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=48;refseq.start=109538613;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 109538655 . T C 130.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=9.62;MQ=98.99;MQ0=0;OQ=12220.92;QD=36.81;RankSumP=1.00000;SB=-5760.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2037T>C;refseq.codonCoord=679;refseq.end=109538655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2258;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.T679T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-85;refseq.start=109538655;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 109538695 . C T 300.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=98.89;MQ0=0;OQ=12726.10;QD=42.42;RankSumP=1.00000;SB=-4932.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2077C>T;refseq.codonCoord=693;refseq.end=109538695;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.L693L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-45;refseq.start=109538695;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 109544008 . G A 302.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.70;MQ0=0;OQ=9963.61;QD=40.34;RankSumP=1.00000;SB=-4231.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2511G>A;refseq.codonCoord=837;refseq.end=109544008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2732;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.S837S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=109544008;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 109544127 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.chr=chr1;refseq.codingCoordStr=c.2628+2;refseq.end=109544127;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=109544127;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 109547141 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=216;Dels=0.00;HRun=2;HaplotypeScore=8.63;MQ=98.71;MQ0=0;OQ=8157.86;QD=37.77;RankSumP=1.00000;SB=-3277.26;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3026T>C;refseq.codonCoord=1009;refseq.end=109547141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3247;refseq.name=NM_020775;refseq.name2=KIAA1324;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1009P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=53;refseq.start=109547141;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 109595775 . T C 429.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=98.93;MQ0=0;OQ=7321.76;QD=37.36;RankSumP=1.00000;SB=-2603.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1551T>C;refseq.codonCoord=517;refseq.end=109595775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S517S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1612;refseq.start=109595775;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 109596549 . T C 291.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.45;MQ0=0;OQ=9575.81;QD=35.60;RankSumP=1.00000;SB=-4150.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2325T>C;refseq.codonCoord=775;refseq.end=109596549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2386;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y775Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-986;refseq.start=109596549;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 109596773 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2549T>G;refseq.codonCoord=850;refseq.end=109596773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2610;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V850G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-762;refseq.start=109596773;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 109597131 . T C 142.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=7.71;MQ=99.00;MQ0=0;OQ=1862.46;QD=38.01;RankSumP=1.00000;SB=-600.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2907T>C;refseq.codonCoord=969;refseq.end=109597131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2968;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F969F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-404;refseq.start=109597131;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 109603197 . A C 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.0812958;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3931A>C;refseq.codonCoord=1311;refseq.end=109603197;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3992;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1311P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-28;refseq.start=109603197;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr1 109609910 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=1.37974e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5758A>C;refseq.codonCoord=1920;refseq.end=109609910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5819;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1920P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=31;refseq.start=109609910;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 109611723 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=301;Dels=0.00;HRun=1;HaplotypeScore=20.55;MQ=98.33;MQ0=0;OQ=6000.83;QD=19.94;RankSumP=1.63009e-06;SB=-2255.30;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6044G>A;refseq.codonCoord=2015;refseq.end=109611723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6105;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2015K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=31;refseq.start=109611723;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 1/0 chr1 109611724 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=303;Dels=0.00;HRun=0;HaplotypeScore=20.55;MQ=98.33;MQ0=0;OQ=6142.38;QD=20.27;RankSumP=5.89160e-05;SB=-2371.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6045G>A;refseq.codonCoord=2015;refseq.end=109611724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6106;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2015R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=32;refseq.start=109611724;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=filterInsoap-gatk GT 1/0 chr1 109612067 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=3.02;MQ=98.69;MQ0=0;OQ=1219.90;QD=12.84;RankSumP=0.439359;SB=-380.06;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6180C>A;refseq.codonCoord=2060;refseq.end=109612067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6241;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2060R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=72;refseq.start=109612067;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr1 109617699 . A C 129.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=89.49;MQ0=0;OQ=213.38;QD=19.40;RankSumP=1.00000;SB=-92.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8628A>C;refseq.codonCoord=2876;refseq.end=109617699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8689;refseq.name=NM_001408;refseq.name2=CELSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2876G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-117;refseq.start=109617699;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr1 109639376 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=90;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=99.00;MQ0=0;OQ=1305.11;QD=14.50;RankSumP=0.438404;SB=-199.87;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.934C>T;refseq.codonCoord=312;refseq.end=109639376;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_001010985;refseq.name2=MYBPHL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H312Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=67;refseq.start=109639376;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr1 109640441 . C T 121.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.10;MQ0=0;OQ=1580.25;QD=15.80;RankSumP=0.453284;SB=-666.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.805G>A;refseq.codonCoord=269;refseq.end=109640441;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_001010985;refseq.name2=MYBPHL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D269N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-63;refseq.start=109640441;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr1 109640956 . A G 91.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=98.19;MQ0=0;OQ=15879.04;QD=41.14;RankSumP=1.00000;SB=-7775.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.702T>C;refseq.codonCoord=234;refseq.end=109640956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_001010985;refseq.name2=MYBPHL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T234T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-29;refseq.start=109640956;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 109641261 . C A 310.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=98.91;MQ0=0;OQ=4281.73;QD=17.55;RankSumP=0.214576;SB=-909.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.504G>T;refseq.codonCoord=168;refseq.end=109641261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_001010985;refseq.name2=MYBPHL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P168P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-67;refseq.start=109641261;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr1 109667165 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1936C>A;refseq.codonCoord=646;refseq.end=109667165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1985;refseq.name=NM_002959;refseq.name2=SORT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R646S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-89;refseq.start=109667165;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr1 109669098 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1780A>C;refseq.codonCoord=594;refseq.end=109669098;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1829;refseq.name=NM_002959;refseq.name2=SORT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T594P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=109669098;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 109686298 . T G 160.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=5822.55;QD=41.00;RankSumP=1.00000;SB=-514.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.969A>C;refseq.codonCoord=323;refseq.end=109686298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_002959;refseq.name2=SORT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T323T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=109686298;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 109698626 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=21.20;MQ=98.82;MQ0=0;OQ=20400.82;QD=42.24;RankSumP=1.00000;SB=-6723.61;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.594T>C;refseq.codonCoord=198;refseq.end=109698626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_002959;refseq.name2=SORT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F198F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=51;refseq.start=109698626;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 109851768 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1290T>G;refseq.codonCoord=430;refseq.end=109851768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1672;refseq.name=NM_020703;refseq.name2=AMIGO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G430G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-800;refseq.start=109851768;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 109972419 . T C 412.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.94;MQ0=0;OQ=6844.69;QD=36.02;RankSumP=1.00000;SB=-2267.39;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1434T>C;refseq.codingCoordStr_2=c.1191T>C;refseq.codingCoordStr_3=c.1077T>C;refseq.codonCoord_1=478;refseq.codonCoord_2=397;refseq.codonCoord_3=359;refseq.end_1=109972419;refseq.end_2=109972419;refseq.end_3=109972419;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1794;refseq.mrnaCoord_2=1623;refseq.mrnaCoord_3=1285;refseq.name2_1=AMPD2;refseq.name2_2=AMPD2;refseq.name2_3=AMPD2;refseq.name_1=NM_004037;refseq.name_2=NM_139156;refseq.name_3=NM_203404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H478H;refseq.proteinCoordStr_2=p.H397H;refseq.proteinCoordStr_3=p.H359H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=109972419;refseq.start_2=109972419;refseq.start_3=109972419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr1 109974445 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2213A>C;refseq.codingCoordStr_2=c.1970A>C;refseq.codingCoordStr_3=c.1856A>C;refseq.codonCoord_1=738;refseq.codonCoord_2=657;refseq.codonCoord_3=619;refseq.end_1=109974445;refseq.end_2=109974445;refseq.end_3=109974445;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2573;refseq.mrnaCoord_2=2402;refseq.mrnaCoord_3=2064;refseq.name2_1=AMPD2;refseq.name2_2=AMPD2;refseq.name2_3=AMPD2;refseq.name_1=NM_004037;refseq.name_2=NM_139156;refseq.name_3=NM_203404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N738T;refseq.proteinCoordStr_2=p.N657T;refseq.proteinCoordStr_3=p.N619T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.start_1=109974445;refseq.start_2=109974445;refseq.start_3=109974445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr1 109975298 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=273.49;QD=12.43;RankSumP=0.554391;SB=-110.79;SecondBestBaseQ=32;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.*1G>T;refseq.codingCoordStr_2=c.*1G>T;refseq.codingCoordStr_3=c.*1G>T;refseq.end_1=109975298;refseq.end_2=109975298;refseq.end_3=109975298;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=3001;refseq.mrnaCoord_2=2830;refseq.mrnaCoord_3=2492;refseq.name2_1=AMPD2;refseq.name2_2=AMPD2;refseq.name2_3=AMPD2;refseq.name_1=NM_004037;refseq.name_2=NM_139156;refseq.name_3=NM_203404;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=211;refseq.spliceDist_2=211;refseq.spliceDist_3=211;refseq.start_1=109975298;refseq.start_2=109975298;refseq.start_3=109975298;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 0/1 chr1 110003222 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=994;Dels=0.00;HRun=2;HaplotypeScore=21.10;MQ=76.75;MQ0=137;OQ=12977.31;QD=13.06;RankSumP=0.360080;SB=-2745.02;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.534T>C;refseq.codingCoordStr_3=c.534T>C;refseq.codonCoord_2=178;refseq.codonCoord_3=178;refseq.end_1=110003222;refseq.end_2=110003222;refseq.end_3=110003222;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=766;refseq.mrnaCoord_2=848;refseq.mrnaCoord_3=848;refseq.name2_1=GSTM4;refseq.name2_2=GSTM4;refseq.name2_3=GSTM4;refseq.name_1=NR_024538;refseq.name_2=NM_000850;refseq.name_3=NM_147148;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F178F;refseq.proteinCoordStr_3=p.F178F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=110003222;refseq.start_2=110003222;refseq.start_3=110003222;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/0 chr1 110034661 . G C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=65.06;MQ0=193;OQ=14361.21;QD=28.33;RankSumP=1.00000;SB=-5241.52;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.519G>C;refseq.codonCoord_2=173;refseq.end_1=110037340;refseq.end_2=110034661;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=597;refseq.name2_1=GSTM1;refseq.name2_2=GSTM1;refseq.name_1=NM_146421;refseq.name_2=NM_000561;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K173N;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-49;refseq.start_1=110034522;refseq.start_2=110034661;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr1 110081224 . C T 314.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=98.68;MQ0=0;OQ=5695.19;QD=18.49;RankSumP=0.135131;SB=-1164.81;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.670G>A;refseq.codonCoord_2=224;refseq.end_1=110081224;refseq.end_2=110081224;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=904;refseq.mrnaCoord_2=980;refseq.name2_1=GSTM3;refseq.name2_2=GSTM3;refseq.name_1=NR_024537;refseq.name_2=NM_000849;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V224I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.start_1=110081224;refseq.start_2=110081224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr1 110097295 . T C 224.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=6.54;MQ=98.31;MQ0=0;OQ=5708.64;QD=18.53;RankSumP=0.137312;SB=-2377.54;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1167A>G;refseq.codingCoordStr_2=c.1167A>G;refseq.codingCoordStr_3=c.1170A>G;refseq.codonCoord_1=389;refseq.codonCoord_2=389;refseq.codonCoord_3=390;refseq.end_1=110097295;refseq.end_2=110097295;refseq.end_3=110097295;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1312;refseq.mrnaCoord_2=1312;refseq.mrnaCoord_3=1315;refseq.name2_1=EPS8L3;refseq.name2_2=EPS8L3;refseq.name2_3=EPS8L3;refseq.name_1=NM_024526;refseq.name_2=NM_133181;refseq.name_3=NM_139053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S389S;refseq.proteinCoordStr_2=p.S389S;refseq.proteinCoordStr_3=p.S390S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=110097295;refseq.start_2=110097295;refseq.start_3=110097295;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr1 110101964 . G A 364.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=1911.89;QD=40.68;RankSumP=1.00000;SB=-592.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.877C>T;refseq.codingCoordStr_2=c.877C>T;refseq.codingCoordStr_3=c.880C>T;refseq.codonCoord_1=293;refseq.codonCoord_2=293;refseq.codonCoord_3=294;refseq.end_1=110101964;refseq.end_2=110101964;refseq.end_3=110101964;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=1022;refseq.mrnaCoord_3=1025;refseq.name2_1=EPS8L3;refseq.name2_2=EPS8L3;refseq.name2_3=EPS8L3;refseq.name_1=NM_024526;refseq.name_2=NM_133181;refseq.name_3=NM_139053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H293Y;refseq.proteinCoordStr_2=p.H293Y;refseq.proteinCoordStr_3=p.H294Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=110101964;refseq.start_2=110101964;refseq.start_3=110101964;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/1 chr1 110258528 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.162+2;refseq.codingCoordStr_2=c.162+2;refseq.codingCoordStr_3=c.162+2;refseq.codingCoordStr_4=c.162+2;refseq.end_1=110258528;refseq.end_2=110258528;refseq.end_3=110258528;refseq.end_4=110258528;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=CSF1;refseq.name2_2=CSF1;refseq.name2_3=CSF1;refseq.name2_4=CSF1;refseq.name_1=NM_000757;refseq.name_2=NM_172210;refseq.name_3=NM_172211;refseq.name_4=NM_172212;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=110258528;refseq.start_2=110258528;refseq.start_3=110258528;refseq.start_4=110258528;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=FilteredInAll GT 1/0 chr1 110267861 . C A 288.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=98.48;MQ0=0;OQ=6420.87;QD=37.77;RankSumP=1.00000;SB=-2830.64;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_2=c.1095C>A;refseq.codingCoordStr_3=c.1090+5;refseq.codingCoordStr_4=c.1095C>A;refseq.codonCoord_2=365;refseq.codonCoord_4=365;refseq.end_1=110268194;refseq.end_2=110267861;refseq.end_3=110267861;refseq.end_4=110267861;refseq.frame_2=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1508;refseq.mrnaCoord_4=1508;refseq.name2_1=CSF1;refseq.name2_2=CSF1;refseq.name2_3=CSF1;refseq.name2_4=CSF1;refseq.name_1=NM_172211;refseq.name_2=NM_000757;refseq.name_3=NM_172210;refseq.name_4=NM_172212;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T365T;refseq.proteinCoordStr_4=p.T365T;refseq.referenceAA_2=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=-475;refseq.spliceDist_3=5;refseq.spliceDist_4=-475;refseq.spliceInfo_3=splice-donor_5;refseq.start_1=110266150;refseq.start_2=110267861;refseq.start_3=110267861;refseq.start_4=110267861;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/1 chr1 110268232 . T C 286.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.91;MQ0=0;OQ=2512.70;QD=39.26;RankSumP=1.00000;SB=-930.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1466T>C;refseq.codingCoordStr_2=c.1118T>C;refseq.codingCoordStr_3=c.572T>C;refseq.codingCoordStr_4=c.1466T>C;refseq.codonCoord_1=489;refseq.codonCoord_2=373;refseq.codonCoord_3=191;refseq.codonCoord_4=489;refseq.end_1=110268232;refseq.end_2=110268232;refseq.end_3=110268232;refseq.end_4=110268232;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1879;refseq.mrnaCoord_2=1531;refseq.mrnaCoord_3=985;refseq.mrnaCoord_4=1879;refseq.name2_1=CSF1;refseq.name2_2=CSF1;refseq.name2_3=CSF1;refseq.name2_4=CSF1;refseq.name_1=NM_000757;refseq.name_2=NM_172210;refseq.name_3=NM_172211;refseq.name_4=NM_172212;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F489S;refseq.proteinCoordStr_2=p.F373S;refseq.proteinCoordStr_3=p.F191S;refseq.proteinCoordStr_4=p.F489S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=-104;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=-104;refseq.start_1=110268232;refseq.start_2=110268232;refseq.start_3=110268232;refseq.start_4=110268232;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=Intersection GT 1/1 chr1 110363250 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=2.37526e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1372A>C;refseq.codonCoord=458;refseq.end=110363250;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1739;refseq.name=NM_006621;refseq.name2=AHCYL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T458P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-15;refseq.start=110363250;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 110456927 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.248A>C;refseq.codonCoord=83;refseq.end=110456927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=343;refseq.name=NM_203412;refseq.name2=UBL4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H83P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=343;refseq.start=110456927;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 110511200 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.126T>G;refseq.codonCoord=42;refseq.end=110511200;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-161;refseq.start=110511200;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 110511242 . T C 113.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=9.25;MQ=97.44;MQ0=0;OQ=1024.53;QD=15.07;RankSumP=0.393476;SB=-475.35;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.168T>C;refseq.codonCoord=56;refseq.end=110511242;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.D56D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-119;refseq.start=110511242;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 110511243 . G A 118.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=97.46;MQ0=0;OQ=1026.80;QD=14.88;RankSumP=0.385759;SB=-528.14;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.169G>A;refseq.codonCoord=57;refseq.end=110511243;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A57T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-118;refseq.start=110511243;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 110539819 . G A 87.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=13.64;MQ=98.35;MQ0=0;OQ=6997.01;QD=27.66;RankSumP=1.00000;SB=-1517.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1581G>A;refseq.codonCoord=527;refseq.end=110539819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2042;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S527S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-72;refseq.start=110539819;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 110539823 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1585A>C;refseq.codonCoord=529;refseq.end=110539823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2046;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T529P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-68;refseq.start=110539823;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 110542556 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2151C>A;refseq.codonCoord=717;refseq.end=110542556;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2612;refseq.name=NM_001010898;refseq.name2=SLC6A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y717*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=336;refseq.start=110542556;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr1 110567810 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1380C>G;refseq.codingCoordStr_2=c.1380C>G;refseq.codingCoordStr_3=c.1380C>G;refseq.codonCoord_1=460;refseq.codonCoord_2=460;refseq.codonCoord_3=460;refseq.end_1=110567810;refseq.end_2=110567810;refseq.end_3=110567810;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1437;refseq.mrnaCoord_2=1437;refseq.mrnaCoord_3=1437;refseq.name2_1=KCNC4;refseq.name2_2=KCNC4;refseq.name2_3=KCNC4;refseq.name_1=NM_001039574;refseq.name_2=NM_004978;refseq.name_3=NM_153763;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G460G;refseq.proteinCoordStr_2=p.G460G;refseq.proteinCoordStr_3=p.G460G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-236;refseq.spliceDist_2=-236;refseq.spliceDist_3=-419;refseq.start_1=110567810;refseq.start_2=110567810;refseq.start_3=110567810;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr1 110683967 . A G 169.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=96.58;MQ0=0;OQ=992.32;QD=33.08;RankSumP=1.00000;SB=-382.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.417A>G;refseq.codonCoord=139;refseq.end=110683967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_022768;refseq.name2=RBM15;refseq.positionType=CDS;refseq.proteinCoordStr=p.E139E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=500;refseq.start=110683967;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 110751962 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=3098.23;QD=39.72;RankSumP=1.00000;SB=-1038.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.50G>A;refseq.codonCoord=17;refseq.end=110751962;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=108;refseq.name=NM_006402;refseq.name2=HBXIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S17N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=108;refseq.start=110751962;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 110862192 . T C 186.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=16.02;MQ=98.39;MQ0=0;OQ=8599.39;QD=20.19;RankSumP=0.259520;SB=-2511.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.741A>G;refseq.codonCoord=247;refseq.end=110862192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_005549;refseq.name2=KCNA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L247L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-831;refseq.start=110862192;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 110862585 . T C 267.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=2035.53;QD=19.20;RankSumP=0.271304;SB=-1022.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.348A>G;refseq.codonCoord=116;refseq.end=110862585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_005549;refseq.name2=KCNA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E116E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=736;refseq.start=110862585;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 111528392 . G A 244.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=453;Dels=0.00;HRun=0;HaplotypeScore=13.42;MQ=98.84;MQ0=0;OQ=9309.28;QD=20.55;RankSumP=0.379911;SB=-3846.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1188G>A;refseq.codingCoordStr_2=c.1188G>A;refseq.codonCoord_1=396;refseq.codonCoord_2=396;refseq.end_1=111528392;refseq.end_2=111528392;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1358;refseq.name2_1=CEPT1;refseq.name2_2=CEPT1;refseq.name_1=NM_001007794;refseq.name_2=NM_006090;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A396A;refseq.proteinCoordStr_2=p.A396A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=111528392;refseq.start_2=111528392;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr1 111532362 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1253A>C;refseq.codonCoord=418;refseq.end=111532362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1453;refseq.name=NM_024901;refseq.name2=DENND2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.N418T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-87;refseq.start=111532362;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 111542845 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=25.40;MQ=98.79;MQ0=0;OQ=4548.44;QD=19.95;RankSumP=0.119255;SB=-1931.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.286C>T;refseq.codonCoord=96;refseq.end=111542845;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_024901;refseq.name2=DENND2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=43;refseq.start=111542845;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 111585505 . C A,T 288.13 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=32;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=98.75;MQ0=0;OQ=15341.58;QD=40.48;RankSumP=0.273839;SB=-2803.55;SecondBestBaseQ=31;set=Intersection GT 1/2 chr1 111585519 . A G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=17.43;MQ=98.74;MQ0=0;OQ=13206.63;QD=40.39;RankSumP=1.00000;SB=-4617.90;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.936A>G;refseq.codingCoordStr_2=c.729A>G;refseq.codingCoordStr_3=c.966A>G;refseq.codonCoord_1=312;refseq.codonCoord_2=243;refseq.codonCoord_3=322;refseq.end_1=111585519;refseq.end_2=111585519;refseq.end_3=111585519;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1007;refseq.mrnaCoord_2=1067;refseq.mrnaCoord_3=1037;refseq.name2_1=CHI3L2;refseq.name2_2=CHI3L2;refseq.name2_3=CHI3L2;refseq.name_1=NM_001025197;refseq.name_2=NM_001025199;refseq.name_3=NM_004000;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q312Q;refseq.proteinCoordStr_2=p.Q243Q;refseq.proteinCoordStr_3=p.Q322Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.start_1=111585519;refseq.start_2=111585519;refseq.start_3=111585519;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr1 111659474 . A G 185.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=11.73;MQ=75.93;MQ0=10;OQ=10836.65;QD=19.74;RankSumP=0.449634;SB=-3589.38;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.50A>G;refseq.codingCoordStr_2=c.374A>G;refseq.codonCoord_1=17;refseq.codonCoord_2=125;refseq.end_1=111659474;refseq.end_2=111659474;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=206;refseq.mrnaCoord_2=477;refseq.name2_1=CHIA;refseq.name2_2=CHIA;refseq.name_1=NM_021797;refseq.name_2=NM_201653;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K17R;refseq.proteinCoordStr_2=p.K125R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=111659474;refseq.start_2=111659474;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr1 111663364 . A G 204.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=9.54;MQ=98.74;MQ0=0;OQ=16756.57;QD=38.17;RankSumP=1.00000;SB=-8131.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.691A>G;refseq.codingCoordStr_2=c.1015A>G;refseq.codonCoord_1=231;refseq.codonCoord_2=339;refseq.end_1=111663364;refseq.end_2=111663364;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=847;refseq.mrnaCoord_2=1118;refseq.name2_1=CHIA;refseq.name2_2=CHIA;refseq.name_1=NM_021797;refseq.name_2=NM_201653;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I231V;refseq.proteinCoordStr_2=p.I339V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=111663364;refseq.start_2=111663364;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr1 111663497 . T C 420.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4556.51;QD=42.19;RankSumP=1.00000;SB=-1690.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.737T>C;refseq.codingCoordStr_2=c.1061T>C;refseq.codonCoord_1=246;refseq.codonCoord_2=354;refseq.end_1=111663497;refseq.end_2=111663497;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=893;refseq.mrnaCoord_2=1164;refseq.name2_1=CHIA;refseq.name2_2=CHIA;refseq.name_1=NM_021797;refseq.name_2=NM_201653;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F246S;refseq.proteinCoordStr_2=p.F354S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=111663497;refseq.start_2=111663497;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr1 111664475 . T G 102.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=12.16;MQ=98.20;MQ0=0;OQ=5115.18;QD=31.38;RankSumP=1.00000;SB=-1777.24;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.971T>G;refseq.codingCoordStr_2=c.1295T>G;refseq.codonCoord_1=324;refseq.codonCoord_2=432;refseq.end_1=111664475;refseq.end_2=111664475;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=1398;refseq.name2_1=CHIA;refseq.name2_2=CHIA;refseq.name_1=NM_021797;refseq.name_2=NM_201653;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V324G;refseq.proteinCoordStr_2=p.V432G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=111664475;refseq.start_2=111664475;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 111844155 . A G 252 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=98.95;MQ0=0;OQ=7830.18;QD=41.21;RankSumP=1.00000;SB=-2478.84;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.897T>C;refseq.codonCoord_3=299;refseq.end_1=111847139;refseq.end_2=111907980;refseq.end_3=111844155;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1664;refseq.name2_1=ADORA3;refseq.name2_2=ADORA3;refseq.name2_3=ADORA3;refseq.name_1=NM_020683;refseq.name_2=NM_001081976;refseq.name_3=NM_000677;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A299A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCT;refseq.spliceDist_3=547;refseq.start_1=111834918;refseq.start_2=111834918;refseq.start_3=111844155;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr1 112071395 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=1773.85;QD=42.23;RankSumP=1.00000;SB=-897.65;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.612C>T;refseq.codingCoordStr_2=c.567C>T;refseq.codonCoord_1=204;refseq.codonCoord_2=189;refseq.end_1=112071395;refseq.end_2=112071395;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=652;refseq.name2_1=C1orf183;refseq.name2_2=C1orf183;refseq.name_1=NM_019099;refseq.name_2=NM_198926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F204F;refseq.proteinCoordStr_2=p.F189F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=555;refseq.spliceDist_2=555;refseq.start_1=112071395;refseq.start_2=112071395;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr1 112100105 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=95.41;MQ0=0;OQ=1776.44;QD=24.67;RankSumP=1.00000;SB=-255.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=112100105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.A12A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-266;refseq.start=112100105;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 112100352 . T C 5.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=55.84;QD=27.92;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.283T>C;refseq.codonCoord=95;refseq.end=112100352;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.L95L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-19;refseq.start=112100352;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr1 112110476 . T C 330.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.67;MQ0=0;OQ=4542.78;QD=33.40;RankSumP=1.00000;SB=-1830.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1907T>C;refseq.codonCoord=636;refseq.end=112110476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2264;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.I636T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=595;refseq.start=112110476;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 112110495 . G A 295.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.77;MQ0=0;OQ=5010.12;QD=32.75;RankSumP=1.00000;SB=-926.13;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1926G>A;refseq.codonCoord=642;refseq.end=112110495;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2283;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.V642V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=614;refseq.start=112110495;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 112110646 . C A 308.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=13.47;MQ=98.83;MQ0=0;OQ=7264.02;QD=17.38;RankSumP=0.320804;SB=-2516.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2077C>A;refseq.codonCoord=693;refseq.end=112110646;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2434;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.R693S;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=765;refseq.start=112110646;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 112110854 . T C 352.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.86;MQ0=0;OQ=7387.07;QD=19.86;RankSumP=0.0844817;SB=-2614.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2285T>C;refseq.codonCoord=762;refseq.end=112110854;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2642;refseq.name=NM_007204;refseq.name2=DDX20;refseq.positionType=CDS;refseq.proteinCoordStr=p.I762T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-868;refseq.start=112110854;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 112326128 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.744T>C;refseq.codingCoordStr_2=c.744T>C;refseq.codonCoord_1=248;refseq.codonCoord_2=248;refseq.end_1=112326128;refseq.end_2=112326128;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1224;refseq.mrnaCoord_2=1224;refseq.name2_1=KCND3;refseq.name2_2=KCND3;refseq.name_1=NM_004980;refseq.name_2=NM_172198;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A248A;refseq.proteinCoordStr_2=p.A248A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-365;refseq.spliceDist_2=-365;refseq.start_1=112326128;refseq.start_2=112326128;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr1 112793221 . T C 99.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=2;HaplotypeScore=1.09;MQ=98.87;MQ0=0;OQ=3927.04;QD=20.35;RankSumP=0.0668576;SB=-1474.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.234T>C;refseq.codonCoord=78;refseq.end=112793221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_018704;refseq.name2=CTTNBP2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N78N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-97;refseq.start=112793221;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 112800750 . G A 329.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.70;MQ0=0;OQ=5103.08;QD=41.49;RankSumP=1.00000;SB=-1960.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1113G>A;refseq.codonCoord=371;refseq.end=112800750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_018704;refseq.name2=CTTNBP2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q371Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=675;refseq.start=112800750;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr1 112801194 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1557C>A;refseq.codonCoord=519;refseq.end=112801194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_018704;refseq.name2=CTTNBP2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I519I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=1119;refseq.start=112801194;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 1/0 chr1 112864648 . A G 142.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=7.35;MQ=98.48;MQ0=0;OQ=2194.40;QD=14.07;RankSumP=0.0140197;SB=-192.38;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1113A>G;refseq.codingCoordStr_2=c.1170A>G;refseq.codonCoord_1=371;refseq.codonCoord_2=390;refseq.end_1=112864648;refseq.end_2=112864648;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1233;refseq.mrnaCoord_2=1685;refseq.name2_1=WNT2B;refseq.name2_2=WNT2B;refseq.name_1=NM_004185;refseq.name_2=NM_024494;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q371Q;refseq.proteinCoordStr_2=p.Q390Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=224;refseq.spliceDist_2=224;refseq.start_1=112864648;refseq.start_2=112864648;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr1 113038204 . C T 334.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=8.19;MQ=98.73;MQ0=0;OQ=5216.68;QD=16.72;RankSumP=0.0978650;SB=-1920.22;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1182C>T;refseq.codingCoordStr_2=c.1182C>T;refseq.codonCoord_1=394;refseq.codonCoord_2=394;refseq.end_1=113038204;refseq.end_2=113038204;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1452;refseq.mrnaCoord_2=1567;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G394G;refseq.proteinCoordStr_2=p.G394G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=113038204;refseq.start_2=113038204;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr1 113038694 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=3;HaplotypeScore=1.85;MQ=98.79;MQ0=0;OQ=1917.49;QD=14.75;RankSumP=0.300493;SB=-594.84;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1392A>G;refseq.codingCoordStr_2=c.1392A>G;refseq.codonCoord_1=464;refseq.codonCoord_2=464;refseq.end_1=113038694;refseq.end_2=113038694;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1662;refseq.mrnaCoord_2=1777;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T464T;refseq.proteinCoordStr_2=p.T464T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=113038694;refseq.start_2=113038694;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr1 113040642 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1944C>G;refseq.codingCoordStr_2=c.1944C>G;refseq.codonCoord_1=648;refseq.codonCoord_2=648;refseq.end_1=113040642;refseq.end_2=113040642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2214;refseq.mrnaCoord_2=2329;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G648G;refseq.proteinCoordStr_2=p.G648G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=113040642;refseq.start_2=113040642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 113040905 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=6.42;MQ=96.89;MQ0=0;OQ=893.82;QD=13.54;RankSumP=0.0103829;SB=-350.32;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2112G>A;refseq.codingCoordStr_2=c.2112G>A;refseq.codonCoord_1=704;refseq.codonCoord_2=704;refseq.end_1=113040905;refseq.end_2=113040905;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2382;refseq.mrnaCoord_2=2497;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E704E;refseq.proteinCoordStr_2=p.E704E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=113040905;refseq.start_2=113040905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr1 113042575 . T C 257.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=6.60;MQ=98.85;MQ0=0;OQ=3233.06;QD=16.75;RankSumP=0.252223;SB=-1517.50;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2460T>C;refseq.codingCoordStr_2=c.2460T>C;refseq.codonCoord_1=820;refseq.codonCoord_2=820;refseq.end_1=113042575;refseq.end_2=113042575;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2730;refseq.mrnaCoord_2=2845;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A820A;refseq.proteinCoordStr_2=p.A820A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=113042575;refseq.start_2=113042575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr1 113044571 . C T 212.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=98.00;MQ0=0;OQ=1435.70;QD=14.50;RankSumP=0.00560903;SB=-680.69;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2931C>T;refseq.codingCoordStr_2=c.2931C>T;refseq.codonCoord_1=977;refseq.codonCoord_2=977;refseq.end_1=113044571;refseq.end_2=113044571;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3201;refseq.mrnaCoord_2=3316;refseq.name2_1=MOV10;refseq.name2_2=MOV10;refseq.name_1=NM_001130079;refseq.name_2=NM_020963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S977S;refseq.proteinCoordStr_2=p.S977S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=113044571;refseq.start_2=113044571;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=filterInsoap-gatk GT 0/1 chr1 113056912 . C T 134.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=16.47;MQ=98.78;MQ0=0;OQ=14373.25;QD=39.71;RankSumP=1.00000;SB=-6518.97;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.706G>A;refseq.codonCoord=236;refseq.end=113056912;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_005167;refseq.name2=PPM1J;refseq.positionType=CDS;refseq.proteinCoordStr=p.V236I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-24;refseq.start=113056912;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr1 113451788 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1363C>A;refseq.codonCoord=455;refseq.end=113451788;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1561;refseq.name=NM_014813;refseq.name2=LRIG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L455I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=50;refseq.start=113451788;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr1 113458615 . A C 273.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=7.52;MQ=98.81;MQ0=0;OQ=12090.92;QD=40.71;RankSumP=1.00000;SB=-4496.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2124A>C;refseq.codonCoord=708;refseq.end=113458615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2322;refseq.name=NM_014813;refseq.name2=LRIG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T708T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=44;refseq.start=113458615;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 113468082 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3034T>C;refseq.codonCoord=1012;refseq.end=113468082;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3232;refseq.name=NM_014813;refseq.name2=LRIG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1012P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=63;refseq.start=113468082;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 113998018 . A G 166.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.87;MQ0=0;OQ=1915.30;QD=13.03;RankSumP=0.414239;SB=-962.13;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2484A>G;refseq.codingCoordStr_2=c.2484A>G;refseq.codonCoord_1=828;refseq.codonCoord_2=828;refseq.end_1=113998018;refseq.end_2=113998018;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2665;refseq.mrnaCoord_2=2665;refseq.name2_1=MAGI3;refseq.name2_2=MAGI3;refseq.name_1=NM_001142782;refseq.name_2=NM_152900;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T828T;refseq.proteinCoordStr_2=p.T828T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=113998018;refseq.start_2=113998018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr1 114179091 . A G 463.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=98.70;MQ0=0;OQ=4726.66;QD=38.74;RankSumP=1.00000;SB=-2148.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1858T>C;refseq.codingCoordStr_2=c.1858T>C;refseq.codonCoord_1=620;refseq.codonCoord_2=620;refseq.end_1=114179091;refseq.end_2=114179091;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1988;refseq.mrnaCoord_2=1988;refseq.name2_1=PTPN22;refseq.name2_2=PTPN22;refseq.name_1=NM_012411;refseq.name_2=NM_015967;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W620R;refseq.proteinCoordStr_2=p.W620R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=114179091;refseq.start_2=114179091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr1 114226124 . C T 283.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=3.75;MQ=99.00;MQ0=0;OQ=7424.01;QD=42.91;RankSumP=1.00000;SB=-1889.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.268G>A;refseq.codonCoord=90;refseq.end=114226124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001010922;refseq.name2=BCL2L15;refseq.positionType=CDS;refseq.proteinCoordStr=p.D90N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=19;refseq.start=114226124;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 114239357 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2073T>G;refseq.codonCoord=691;refseq.end=114239357;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2327;refseq.name=NM_006594;refseq.name2=AP4B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C691W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-158;refseq.start=114239357;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 114244228 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.935G>C;refseq.codonCoord=312;refseq.end=114244228;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_006594;refseq.name2=AP4B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S312T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-180;refseq.start=114244228;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 114284674 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.146T>C;refseq.codingCoordStr_2=c.146T>C;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=114284674;refseq.end_2=114284674;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=307;refseq.mrnaCoord_2=307;refseq.name2_1=HIPK1;refseq.name2_2=HIPK1;refseq.name_1=NM_152696;refseq.name_2=NM_198268;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L49P;refseq.proteinCoordStr_2=p.L49P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=148;refseq.spliceDist_2=148;refseq.start_1=114284674;refseq.start_2=114284674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 114317240 . G A 118.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=97.03;MQ0=0;OQ=1550.49;QD=12.71;RankSumP=0.139989;SB=-584.59;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2034G>A;refseq.codingCoordStr_2=c.3216G>A;refseq.codingCoordStr_3=c.2094G>A;refseq.codonCoord_1=678;refseq.codonCoord_2=1072;refseq.codonCoord_3=698;refseq.end_1=114317240;refseq.end_2=114317240;refseq.end_3=114317240;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2097;refseq.mrnaCoord_2=3377;refseq.mrnaCoord_3=2288;refseq.name2_1=HIPK1;refseq.name2_2=HIPK1;refseq.name2_3=HIPK1;refseq.name_1=NM_181358;refseq.name_2=NM_198268;refseq.name_3=NM_198269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A678A;refseq.proteinCoordStr_2=p.A1072A;refseq.proteinCoordStr_3=p.A698A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.start_1=114317240;refseq.start_2=114317240;refseq.start_3=114317240;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr1 114482063 . C T 240.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=13.78;MQ=98.89;MQ0=0;OQ=8833.13;QD=15.66;RankSumP=0.0284510;SB=-2672.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.393G>A;refseq.codonCoord=131;refseq.end=114482063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_205848;refseq.name2=SYT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S131S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=136;refseq.start=114482063;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr1 114749804 . A G 134.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.94;MQ0=0;OQ=21735.93;QD=39.66;RankSumP=1.00000;SB=-9743.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2519T>C;refseq.codingCoordStr_2=c.2519T>C;refseq.codonCoord_1=840;refseq.codonCoord_2=840;refseq.end_1=114749804;refseq.end_2=114749804;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2603;refseq.mrnaCoord_2=2603;refseq.name2_1=TRIM33;refseq.name2_2=TRIM33;refseq.name_1=NM_015906;refseq.name_2=NM_033020;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I840T;refseq.proteinCoordStr_2=p.I840T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=114749804;refseq.start_2=114749804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr1 114969909 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.220A>C;refseq.codonCoord=74;refseq.end=114969909;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_198459;refseq.name2=DENND2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T74P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=424;refseq.start=114969909;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 114970123 . A T 273.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=369;Dels=0.00;HRun=1;HaplotypeScore=4.97;MQ=98.81;MQ0=0;OQ=6405.67;QD=17.36;RankSumP=0.0880117;SB=-1413.65;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6T>A;refseq.codonCoord=2;refseq.end=114970123;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_198459;refseq.name2=DENND2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=210;refseq.start=114970123;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 115037580 . G A 177.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.61;MQ0=0;OQ=2671.49;QD=12.97;RankSumP=0.398925;SB=-1276.55;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.133C>T;refseq.codonCoord_2=45;refseq.end_1=115039583;refseq.end_2=115037580;refseq.frame_2=0;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=181;refseq.name2_1=AMPD1;refseq.name2_2=AMPD1;refseq.name_1=NM_001172626;refseq.name_2=NM_000036;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q45*;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=115032896;refseq.start_2=115037580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAA;set=Intersection GT 1/0 chr1 115201407 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=12.73;MQ=98.14;MQ0=0;OQ=1440.26;QD=11.62;RankSumP=0.287617;SB=-745.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.225C>G;refseq.codonCoord=75;refseq.end=115201407;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_003176;refseq.name2=SYCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P75P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-13;refseq.start=115201407;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 115377546 . A G 226.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=11.69;MQ=98.89;MQ0=0;OQ=17513.94;QD=42.41;RankSumP=1.00000;SB=-5012.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.40A>G;refseq.codonCoord=14;refseq.end=115377546;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=108;refseq.name=NM_000549;refseq.name2=TSHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T14A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=41;refseq.start=115377546;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 115403051 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=848;Dels=0.00;HRun=0;HaplotypeScore=33.86;MQ=98.91;MQ0=0;OQ=19543.69;QD=23.05;RankSumP=0.248901;SB=-6517.34;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.420G>C;refseq.codonCoord=140;refseq.end=115403051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_005725;refseq.name2=TSPAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G140G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-25;refseq.start=115403051;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 115406321 . C T 329.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=97.82;MQ0=0;OQ=1435.14;QD=35.00;RankSumP=1.00000;SB=-586.32;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.228G>A;refseq.codonCoord=76;refseq.end=115406321;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_005725;refseq.name2=TSPAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G76G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-43;refseq.start=115406321;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 115630836 . G A 220.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=5.85;MQ=98.65;MQ0=0;OQ=3138.05;QD=14.20;RankSumP=0.107573;SB=-799.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.104C>T;refseq.codonCoord=35;refseq.end=115630836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_002506;refseq.name2=NGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.A35V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=116;refseq.start=115630836;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 116007946 . G A 289.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.73;MQ0=0;OQ=10623.13;QD=20.31;RankSumP=0.118275;SB=-3507.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.340G>A;refseq.codingCoordStr_2=c.346G>A;refseq.codingCoordStr_3=c.346G>A;refseq.codonCoord_1=114;refseq.codonCoord_2=116;refseq.codonCoord_3=116;refseq.end_1=116007946;refseq.end_2=116007946;refseq.end_3=116007946;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=561;refseq.mrnaCoord_3=617;refseq.name2_1=VANGL1;refseq.name2_2=VANGL1;refseq.name2_3=VANGL1;refseq.name_1=NM_001172411;refseq.name_2=NM_001172412;refseq.name_3=NM_138959;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A114T;refseq.proteinCoordStr_2=p.A116T;refseq.proteinCoordStr_3=p.A116T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=142;refseq.spliceDist_2=142;refseq.spliceDist_3=142;refseq.start_1=116007946;refseq.start_2=116007946;refseq.start_3=116007946;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/0 chr1 116028154 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1007C>A;refseq.codingCoordStr_2=c.1013C>A;refseq.codingCoordStr_3=c.1013C>A;refseq.codonCoord_1=336;refseq.codonCoord_2=338;refseq.codonCoord_3=338;refseq.end_1=116028154;refseq.end_2=116028154;refseq.end_3=116028154;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1278;refseq.mrnaCoord_2=1228;refseq.mrnaCoord_3=1284;refseq.name2_1=VANGL1;refseq.name2_2=VANGL1;refseq.name2_3=VANGL1;refseq.name_1=NM_001172411;refseq.name_2=NM_001172412;refseq.name_3=NM_138959;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S336*;refseq.proteinCoordStr_2=p.S338*;refseq.proteinCoordStr_3=p.S338*;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=116028154;refseq.start_2=116028154;refseq.start_3=116028154;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr1 116045400 . G A 295.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=7.60;MQ=98.75;MQ0=0;OQ=3079.21;QD=17.50;RankSumP=0.191085;SB=-796.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1185C>T;refseq.codonCoord=395;refseq.end=116045400;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_001232;refseq.name2=CASQ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D395D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=171;refseq.start=116045400;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 116049349 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=101;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.58;MQ0=0;OQ=955.17;QD=9.46;RankSumP=0.338944;SB=-365.24;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.926A>G;refseq.codonCoord=309;refseq.end=116049349;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_001232;refseq.name2=CASQ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D309G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-14;refseq.start=116049349;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 116112490 . T C 227.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.62;MQ0=0;OQ=9184.72;QD=17.83;RankSumP=0.493528;SB=-3053.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.196A>G;refseq.codonCoord=66;refseq.end=116112490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=460;refseq.name=NM_001232;refseq.name2=CASQ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T66A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-39;refseq.start=116112490;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr1 116468364 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.08423e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.344A>G;refseq.codonCoord=115;refseq.end=116468364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_152367;refseq.name2=C1orf161;refseq.positionType=CDS;refseq.proteinCoordStr=p.E115G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-138;refseq.start=116468364;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 116477328 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.908T>G;refseq.codonCoord=303;refseq.end=116477328;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1173;refseq.name=NM_152367;refseq.name2=C1orf161;refseq.positionType=CDS;refseq.proteinCoordStr=p.V303G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=53;refseq.start=116477328;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 116745305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_3=c.2749A>C;refseq.codingCoordStr_4=c.2749A>C;refseq.codingCoordStr_5=c.2656A>C;refseq.codonCoord_3=917;refseq.codonCoord_4=917;refseq.codonCoord_5=886;refseq.end_1=116762593;refseq.end_2=116762593;refseq.end_3=116745305;refseq.end_4=116745305;refseq.end_5=116745305;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=3088;refseq.mrnaCoord_4=3112;refseq.mrnaCoord_5=2921;refseq.name2_1=C1orf203;refseq.name2_2=C1orf203;refseq.name2_3=ATP1A1;refseq.name2_4=ATP1A1;refseq.name2_5=ATP1A1;refseq.name_1=NR_027645;refseq.name_2=NR_027646;refseq.name_3=NM_000701;refseq.name_4=NM_001160233;refseq.name_5=NM_001160234;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.T917P;refseq.proteinCoordStr_4=p.T917P;refseq.proteinCoordStr_5=p.T886P;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.spliceDist_5=31;refseq.start_1=116745287;refseq.start_2=116745287;refseq.start_3=116745305;refseq.start_4=116745305;refseq.start_5=116745305;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr1 116923582 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3289A>G;refseq.codingCoordStr_2=c.3349A>G;refseq.codonCoord_1=1097;refseq.codonCoord_2=1117;refseq.end_1=116923582;refseq.end_2=116923582;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3994;refseq.mrnaCoord_2=4054;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1097A;refseq.proteinCoordStr_2=p.T1117A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=116923582;refseq.start_2=116923582;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/0 chr1 116923808 . G C 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=54;Dels=0.00;HRun=1;HaplotypeScore=9.29;MQ=95.94;MQ0=0;OQ=341.30;QD=6.32;RankSumP=0.136852;SB=-11.76;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3063C>G;refseq.codingCoordStr_2=c.3123C>G;refseq.codonCoord_1=1021;refseq.codonCoord_2=1041;refseq.end_1=116923808;refseq.end_2=116923808;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3768;refseq.mrnaCoord_2=3828;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1021E;refseq.proteinCoordStr_2=p.D1041E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=215;refseq.spliceDist_2=215;refseq.start_1=116923808;refseq.start_2=116923808;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr1 116923811 . G C 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=8.55;MQ=95.94;MQ0=0;OQ=690.85;QD=12.79;RankSumP=0.0407959;SB=-271.39;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3060C>G;refseq.codingCoordStr_2=c.3120C>G;refseq.codonCoord_1=1020;refseq.codonCoord_2=1040;refseq.end_1=116923811;refseq.end_2=116923811;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3765;refseq.mrnaCoord_2=3825;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1020E;refseq.proteinCoordStr_2=p.D1040E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=212;refseq.spliceDist_2=212;refseq.start_1=116923811;refseq.start_2=116923811;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr1 116944136 . C T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00663842;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1979G>A;refseq.codingCoordStr_2=c.2039G>A;refseq.codonCoord_1=660;refseq.codonCoord_2=680;refseq.end_1=116944136;refseq.end_2=116944136;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2684;refseq.mrnaCoord_2=2744;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R660Q;refseq.proteinCoordStr_2=p.R680Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=116944136;refseq.start_2=116944136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 0/1 chr1 116944164 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.122362;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1951C>T;refseq.codingCoordStr_2=c.2011C>T;refseq.codonCoord_1=651;refseq.codonCoord_2=671;refseq.end_1=116944164;refseq.end_2=116944164;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2656;refseq.mrnaCoord_2=2716;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R651W;refseq.proteinCoordStr_2=p.R671W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=116944164;refseq.start_2=116944164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=soap GT 1/0 chr1 116944230 . G A 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.493898;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1885C>T;refseq.codingCoordStr_2=c.1945C>T;refseq.codonCoord_1=629;refseq.codonCoord_2=649;refseq.end_1=116944230;refseq.end_2=116944230;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2590;refseq.mrnaCoord_2=2650;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R629C;refseq.proteinCoordStr_2=p.R649C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-145;refseq.spliceDist_2=-145;refseq.start_1=116944230;refseq.start_2=116944230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=soap GT 1/0 chr1 116948029 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1364A>C;refseq.codingCoordStr_2=c.1424A>C;refseq.codonCoord_1=455;refseq.codonCoord_2=475;refseq.end_1=116948029;refseq.end_2=116948029;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2069;refseq.mrnaCoord_2=2129;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N455T;refseq.proteinCoordStr_2=p.N475T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=142;refseq.spliceDist_2=142;refseq.start_1=116948029;refseq.start_2=116948029;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr1 116952140 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.416502;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1169T>C;refseq.codingCoordStr_2=c.1169T>C;refseq.codonCoord_1=390;refseq.codonCoord_2=390;refseq.end_1=116952140;refseq.end_2=116952140;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1874;refseq.mrnaCoord_2=1874;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I390T;refseq.proteinCoordStr_2=p.I390T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=116952140;refseq.start_2=116952140;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=soap GT 0/1 chr1 116958077 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.000291375;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.665A>G;refseq.codingCoordStr_2=c.665A>G;refseq.codonCoord_1=222;refseq.codonCoord_2=222;refseq.end_1=116958077;refseq.end_2=116958077;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1370;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D222G;refseq.proteinCoordStr_2=p.D222G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-168;refseq.spliceDist_2=-168;refseq.start_1=116958077;refseq.start_2=116958077;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr1 116960495 . A G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.355556;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.151T>C;refseq.codingCoordStr_2=c.151T>C;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.end_1=116960495;refseq.end_2=116960495;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=856;refseq.mrnaCoord_2=856;refseq.name2_1=IGSF3;refseq.name2_2=IGSF3;refseq.name_1=NM_001007237;refseq.name_2=NM_001542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S51P;refseq.proteinCoordStr_2=p.S51P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.start_1=116960495;refseq.start_2=116960495;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT 0/1 chr1 117112670 . C A 147.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.67;MQ0=0;OQ=1712.02;QD=16.46;RankSumP=0.0981220;SB=-655.65;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.798C>A;refseq.codonCoord=266;refseq.end=117112670;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_001767;refseq.name2=CD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H266Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=62;refseq.start=117112670;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 117289233 . A G 445.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=98.57;MQ0=0;OQ=8557.58;QD=37.53;RankSumP=1.00000;SB=-2573.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.828A>G;refseq.codonCoord=276;refseq.end=117289233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=965;refseq.name=NM_020440;refseq.name2=PTGFRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P276P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=117289233;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 117289234 . T A 174.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.56;MQ0=0;OQ=8206.23;QD=36.96;RankSumP=1.00000;SB=-2808.92;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.829T>A;refseq.codonCoord=277;refseq.end=117289234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_020440;refseq.name2=PTGFRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S277T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=117289234;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 117330981 . G A 256.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=98.16;MQ0=0;OQ=2108.04;QD=15.06;RankSumP=0.308243;SB=-896.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2509G>A;refseq.codonCoord=837;refseq.end=117330981;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2646;refseq.name=NM_020440;refseq.name2=PTGFRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V837I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=36;refseq.start=117330981;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr1 117355944 . A G 228.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.62;MQ0=0;OQ=2911.17;QD=14.06;RankSumP=0.479338;SB=-1171.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.674A>G;refseq.codonCoord=225;refseq.end=117355944;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_004258;refseq.name2=CD101;refseq.positionType=CDS;refseq.proteinCoordStr=p.N225S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-168;refseq.start=117355944;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 117361249 . A G 218.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=11.86;MQ=98.97;MQ0=0;OQ=17068.95;QD=38.10;RankSumP=1.00000;SB=-7223.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1243A>G;refseq.codonCoord=415;refseq.end=117361249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1301;refseq.name=NM_004258;refseq.name2=CD101;refseq.positionType=CDS;refseq.proteinCoordStr=p.M415V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=15;refseq.start=117361249;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 117419228 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.01;HRun=1;HaplotypeScore=18.79;MQ=98.77;MQ0=0;OQ=4101.56;QD=24.86;RankSumP=0.490447;SB=-1410.02;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.499A>G;refseq.codonCoord=167;refseq.end=117419228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_003594;refseq.name2=TTF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K167E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=214;refseq.start=117419228;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 117419590 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.27;MQ0=0;OQ=1156.95;QD=15.85;RankSumP=0.369367;SB=-505.51;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.861C>T;refseq.codonCoord=287;refseq.end=117419590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_003594;refseq.name2=TTF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N287N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-415;refseq.start=117419590;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 117445581 . A G 199.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=14.78;MQ=98.53;MQ0=0;OQ=7415.32;QD=20.43;RankSumP=0.357980;SB=-2193.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3401A>G;refseq.codonCoord=1134;refseq.end=117445581;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3421;refseq.name=NM_003594;refseq.name2=TTF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1134R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=57;refseq.start=117445581;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 117457611 . A G 245.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.44;MQ0=0;OQ=2163.35;QD=15.56;RankSumP=0.287752;SB=-854.18;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1433T>C;refseq.codingCoordStr_2=c.1487T>C;refseq.codonCoord_1=478;refseq.codonCoord_2=496;refseq.end_1=117457611;refseq.end_2=117457611;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2021;refseq.mrnaCoord_2=2075;refseq.name2_1=TRIM45;refseq.name2_2=TRIM45;refseq.name_1=NM_001145635;refseq.name_2=NM_025188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M478T;refseq.proteinCoordStr_2=p.M496T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=117457611;refseq.start_2=117457611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr1 117462277 . C T 177.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=2346.78;QD=14.85;RankSumP=0.155885;SB=-706.62;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1124G>A;refseq.codingCoordStr_2=c.1124G>A;refseq.codonCoord_1=375;refseq.codonCoord_2=375;refseq.end_1=117462277;refseq.end_2=117462277;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1712;refseq.mrnaCoord_2=1712;refseq.name2_1=TRIM45;refseq.name2_2=TRIM45;refseq.name_1=NM_001145635;refseq.name_2=NM_025188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C375Y;refseq.proteinCoordStr_2=p.C375Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-99;refseq.start_1=117462277;refseq.start_2=117462277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr1 117746487 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.459C>A;refseq.codonCoord=153;refseq.end=117746487;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1180;refseq.name=NM_006699;refseq.name2=MAN1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N153K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-100;refseq.start=117746487;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr1 117967214 . C T 253.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=8.80;MQ=98.52;MQ0=0;OQ=5273.35;QD=17.64;RankSumP=0.272755;SB=-2090.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.201C>T;refseq.codonCoord=67;refseq.end=117967214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_017709;refseq.name2=FAM46C;refseq.positionType=CDS;refseq.proteinCoordStr=p.H67H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=228;refseq.start=117967214;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 118303464 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2703T>G;refseq.codonCoord_2=901;refseq.end_1=118307934;refseq.end_2=118303464;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2769;refseq.name2_1=SPAG17;refseq.name2_2=WDR3;refseq.name_1=NM_206996;refseq.name_2=NM_006784;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G901G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=27;refseq.start_1=118298206;refseq.start_2=118303464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 118303465 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2704C>G;refseq.codonCoord_2=902;refseq.end_1=118307934;refseq.end_2=118303465;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2770;refseq.name2_1=SPAG17;refseq.name2_2=WDR3;refseq.name_1=NM_206996;refseq.name_2=NM_006784;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L902V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=28;refseq.start_1=118298206;refseq.start_2=118303465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/0 chr1 118338665 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=392;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.80;MQ0=0;OQ=8070.43;QD=20.59;RankSumP=0.272857;SB=-3002.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5065A>G;refseq.codonCoord=1689;refseq.end=118338665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5133;refseq.name=NM_206996;refseq.name2=SPAG17;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1689V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=12;refseq.start=118338665;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 118367476 . G A 387.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.90;MQ0=0;OQ=7922.51;QD=42.14;RankSumP=1.00000;SB=-3569.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4043C>T;refseq.codonCoord=1348;refseq.end=118367476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4111;refseq.name=NM_206996;refseq.name2=SPAG17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1348L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-27;refseq.start=118367476;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr1 118384931 . G A 226.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=98.85;MQ0=0;OQ=16423.16;QD=42.33;RankSumP=1.00000;SB=-8079.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3111C>T;refseq.codonCoord=1037;refseq.end=118384931;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3179;refseq.name=NM_206996;refseq.name2=SPAG17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1037Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-56;refseq.start=118384931;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 118445953 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=685;Dels=0.00;HRun=0;HaplotypeScore=12.22;MQ=98.60;MQ0=0;OQ=25632.30;QD=37.42;RankSumP=1.00000;SB=-11247.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.567T>C;refseq.codonCoord=189;refseq.end=118445953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_206996;refseq.name2=SPAG17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N189N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-68;refseq.start=118445953;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 119229424 . G T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.15406e-05;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.945C>A;refseq.codonCoord=315;refseq.end=119229424;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_152380;refseq.name2=TBX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y315*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=239;refseq.start=119229424;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr1 119377341 . C G 103.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=4.35;MQ=98.73;MQ0=0;OQ=1701.71;QD=22.10;RankSumP=0.441865;SB=-831.60;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.799G>C;refseq.codingCoordStr_2=c.*165G>C;refseq.codonCoord_1=267;refseq.end_1=119377341;refseq.end_2=119377341;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=856;refseq.name2_1=WARS2;refseq.name2_2=WARS2;refseq.name_1=NM_015836;refseq.name_2=NM_201263;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A267P;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCT;refseq.spliceDist_1=165;refseq.spliceDist_2=194;refseq.start_1=119377341;refseq.start_2=119377341;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCT;set=Intersection GT 1/0 chr1 119725247 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=712;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=98.85;MQ0=0;OQ=13942.48;QD=19.58;RankSumP=0.179133;SB=-5871.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.16T>C;refseq.codingCoordStr_2=c.16T>C;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=119725247;refseq.end_2=119725247;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=148;refseq.name2_1=HAO2;refseq.name2_2=HAO2;refseq.name_1=NM_001005783;refseq.name_2=NM_016527;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L6L;refseq.proteinCoordStr_2=p.L6L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=119725247;refseq.start_2=119725247;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr1 119766456 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=342;Dels=0.00;HRun=2;HaplotypeScore=3.79;MQ=92.43;MQ0=6;OQ=6714.64;QD=19.63;RankSumP=0.404034;SB=-2545.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.809T>C;refseq.codingCoordStr_2=c.809T>C;refseq.codonCoord_1=270;refseq.codonCoord_2=270;refseq.end_1=119766456;refseq.end_2=119766456;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=981;refseq.mrnaCoord_2=1058;refseq.name2_1=HSD3B2;refseq.name2_2=HSD3B2;refseq.name_1=NM_000198;refseq.name_2=NM_001166120;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I270T;refseq.proteinCoordStr_2=p.I270T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=502;refseq.spliceDist_2=502;refseq.start_1=119766456;refseq.start_2=119766456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr1 119858681 . C T 273.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=91.46;MQ0=0;OQ=6734.84;QD=18.71;RankSumP=0.352221;SB=-1989.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1012C>T;refseq.codonCoord=338;refseq.end=119858681;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1157;refseq.name=NM_000862;refseq.name2=HSD3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L338L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-524;refseq.start=119858681;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 119858769 . C A 93.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=55.15;MQ0=56;OQ=4864.39;QD=26.01;RankSumP=1.00000;SB=-1427.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1100C>A;refseq.codonCoord=367;refseq.end=119858769;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_000862;refseq.name2=HSD3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T367N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-436;refseq.start=119858769;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 120087069 . G A 313.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1064.23;QD=36.70;RankSumP=1.00000;SB=-298.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1326G>A;refseq.codonCoord=442;refseq.end=120087069;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1553;refseq.name=NM_006623;refseq.name2=PHGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T442T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=117;refseq.start=120087069;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 120180201 . C T 280.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.85;MQ0=0;OQ=4524.39;QD=19.33;RankSumP=0.241882;SB=-1864.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1068G>A;refseq.codonCoord=356;refseq.end=120180201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_001047980;refseq.name2=NBPF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q356Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-59;refseq.start=120180201;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 120185728 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=608;Dels=0.00;HRun=1;HaplotypeScore=23.47;MQ=85.60;MQ0=4;OQ=12365.40;QD=20.34;RankSumP=0.188412;SB=-3752.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.357T>C;refseq.codonCoord=119;refseq.end=120185728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_001047980;refseq.name2=NBPF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V119V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=19;refseq.start=120185728;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr1 120238274 . T C 237.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=9.04;MQ=98.34;MQ0=1;OQ=8423.07;QD=21.49;RankSumP=1.93002e-08;SB=-2623.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2209A>G;refseq.codonCoord=737;refseq.end=120238274;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2363;refseq.name=NM_021794;refseq.name2=ADAM30;refseq.positionType=CDS;refseq.proteinCoordStr=p.T737A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-596;refseq.start=120238274;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr1 120239241 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=718;Dels=0.00;HRun=1;HaplotypeScore=13.44;MQ=98.90;MQ0=0;OQ=15383.88;QD=21.43;RankSumP=0.418089;SB=-6020.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1242C>T;refseq.codonCoord=414;refseq.end=120239241;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1396;refseq.name=NM_021794;refseq.name2=ADAM30;refseq.positionType=CDS;refseq.proteinCoordStr=p.D414D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1396;refseq.start=120239241;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 120239407 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=648;Dels=0.00;HRun=1;HaplotypeScore=23.00;MQ=98.55;MQ0=0;OQ=12135.06;QD=18.73;RankSumP=0.216506;SB=-3865.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1076T>C;refseq.codonCoord=359;refseq.end=120239407;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_021794;refseq.name2=ADAM30;refseq.positionType=CDS;refseq.proteinCoordStr=p.L359P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=1230;refseq.start=120239407;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 120259527 . A T 342.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=529;Dels=0.00;HRun=0;HaplotypeScore=10.03;MQ=98.87;MQ0=0;OQ=9469.22;QD=17.90;RankSumP=0.00169434;SB=-2536.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7341T>A;refseq.codonCoord=2447;refseq.end=120259527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7597;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2447G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1314;refseq.start=120259527;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 0/1 chr1 120341360 . T C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.547619;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.534A>G;refseq.codonCoord=178;refseq.end=120341360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K178K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=119;refseq.start=120341360;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 1/0 chr1 120341439 . G A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.214286;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.455C>T;refseq.codonCoord=152;refseq.end=120341439;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P152L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=40;refseq.start=120341439;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr1 120341459 . C G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.100000;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.435G>C;refseq.codonCoord=145;refseq.end=120341459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T145T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=20;refseq.start=120341459;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 120374070 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.367567;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.137A>G;refseq.codonCoord=46;refseq.end=120374070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N46S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-19;refseq.start=120374070;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 1/0 chr1 120374095 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.0478738;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.112G>A;refseq.codonCoord=38;refseq.end=120374095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E38K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=39;refseq.start=120374095;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chr1 120374135 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.324372;SecondBestBaseQ=33;refseq.chr=chr1;refseq.codingCoordStr=c.74-2;refseq.end=120374135;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=120374135;refseq.transcriptStrand=-;set=soap GT 1/0 chr1 120413487 . G C 42.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=3.57;MQ=47.58;MQ0=7;OQ=738.79;QD=13.68;RankSumP=0.687500;SB=-354.62;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.57C>G;refseq.codonCoord=19;refseq.end=120413487;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C19W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-17;refseq.start=120413487;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=filterInsoap-gatk GT 0/1 chr1 120413529 . G A 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=58.46;MQ0=3;OQ=462.83;QD=11.29;RankSumP=0.0327657;SB=-201.88;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=120413529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_024408;refseq.name2=NOTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-59;refseq.start=120413529;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 120656051 . T C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=21.11;MQ0=158;OQ=2779.71;QD=7.90;RankSumP=0.329635;SB=-1207.04;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.392T>C;refseq.codonCoord=131;refseq.end=120656051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_001100910;refseq.name2=FAM72B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I131T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=37;refseq.start=120656051;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 120728815 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.403605;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.412A>G;refseq.codingCoordStr_2=c.688A>G;refseq.codonCoord_1=138;refseq.codonCoord_2=230;refseq.end_1=120728815;refseq.end_2=120728815;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=738;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N138D;refseq.proteinCoordStr_2=p.N230D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=126;refseq.spliceDist_2=126;refseq.start_1=120728815;refseq.start_2=120728815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr1 120731578 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.555556;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.270A>G;refseq.codingCoordStr_2=c.546A>G;refseq.codonCoord_1=90;refseq.codonCoord_2=182;refseq.end_1=120731578;refseq.end_2=120731578;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=320;refseq.mrnaCoord_2=596;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S90S;refseq.proteinCoordStr_2=p.S182S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=120731578;refseq.start_2=120731578;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=FilteredInAll GT 1/0 chr1 120731780 . A G 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.472527;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.68T>C;refseq.codingCoordStr_2=c.344T>C;refseq.codonCoord_1=23;refseq.codonCoord_2=115;refseq.end_1=120731780;refseq.end_2=120731780;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=118;refseq.mrnaCoord_2=394;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M23T;refseq.proteinCoordStr_2=p.M115T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=120731780;refseq.start_2=120731780;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 0/1 chr1 120731810 . A G 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.681041;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.38T>C;refseq.codingCoordStr_2=c.314T>C;refseq.codonCoord_1=13;refseq.codonCoord_2=105;refseq.end_1=120731810;refseq.end_2=120731810;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=88;refseq.mrnaCoord_2=364;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L13P;refseq.proteinCoordStr_2=p.L105P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=120731810;refseq.start_2=120731810;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=soap GT 0/1 chr1 120736052 . G A 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.136852;SecondBestBaseQ=21;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.159C>T;refseq.codonCoord_2=53;refseq.end_1=120737376;refseq.end_2=120736052;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=209;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S53S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=107;refseq.start_1=120731827;refseq.start_2=120736052;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=soap GT 1/0 chr1 120736096 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.114354;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.115G>A;refseq.codonCoord_2=39;refseq.end_1=120737376;refseq.end_2=120736096;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=165;refseq.name2_1=FCGR1B;refseq.name2_2=FCGR1B;refseq.name_1=NM_001004340;refseq.name_2=NM_001017986;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V39I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=63;refseq.start_1=120731827;refseq.start_2=120736096;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=soap GT 0/1 chr1 142559036 . A T 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=2036;Dels=0.00;HRun=0;HaplotypeScore=57.12;MQ=28.10;MQ0=1016;OQ=13040.32;QD=6.40;RankSumP=0.414982;SB=-3543.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.336T>A;refseq.codonCoord=112;refseq.end=142559036;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.F112L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=369;refseq.start=142559036;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap-filterIngatk GT 0/1 chr1 142559045 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1817;Dels=0.00;HRun=0;HaplotypeScore=26.85;MQ=25.59;MQ0=1062;OQ=9979.16;QD=5.49;RankSumP=0.112319;SB=-2692.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.327T>C;refseq.codonCoord=109;refseq.end=142559045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.G109G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=360;refseq.start=142559045;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr1 142559070 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1345;Dels=0.00;HRun=0;HaplotypeScore=20.88;MQ=21.02;MQ0=1133;OQ=3633.57;QD=2.70;RankSumP=0.618360;SB=-669.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.302C>T;refseq.codonCoord=101;refseq.end=142559070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.A101V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=335;refseq.start=142559070;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 142559151 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.488144;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.221G>A;refseq.codonCoord=74;refseq.end=142559151;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.G74D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=254;refseq.start=142559151;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr1 142559166 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.539430;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.206A>G;refseq.codonCoord=69;refseq.end=142559166;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.H69R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=239;refseq.start=142559166;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 1/0 chr1 142559301 . T A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.122895;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.71A>T;refseq.codonCoord=24;refseq.end=142559301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=104;refseq.name=NM_001123068;refseq.name2=PPIAL4G;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q24L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=104;refseq.start=142559301;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr1 143563833 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.526926;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7023A>G;refseq.codonCoord=2341;refseq.end=143563833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7314;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2341P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=24;refseq.start=143563833;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 1/0 chr1 143565537 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.196165;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6984A>G;refseq.codonCoord=2328;refseq.end=143565537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7275;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2328A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-16;refseq.start=143565537;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap GT 1/0 chr1 143565954 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=727;Dels=0.00;HRun=1;HaplotypeScore=144.70;MQ=19.40;MQ0=618;OQ=1884.73;QD=2.59;RankSumP=0.00676588;SB=-444.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6873A>G;refseq.codonCoord=2291;refseq.end=143565954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7164;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2291R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=60;refseq.start=143565954;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr1 143565955 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=713;Dels=0.00;HRun=1;HaplotypeScore=235.85;MQ=19.47;MQ0=610;OQ=1825.98;QD=2.56;RankSumP=0.404151;SB=-498.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6872G>A;refseq.codonCoord=2291;refseq.end=143565955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7163;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2291Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=59;refseq.start=143565955;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr1 143565965 rs2798855 T G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=653;Dels=0.00;HRun=2;HaplotypeScore=129.41;MQ=19.34;MQ0=601;OQ=966.62;QD=1.48;SB=-352.97;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6862A>C;refseq.codonCoord=2288;refseq.end=143565965;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7153;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2288Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=49;refseq.start=143565965;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:498,154:44:-113.20,-13.25,-55.63:99 chr1 143567169 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.712496;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6741A>G;refseq.codonCoord=2247;refseq.end=143567169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7032;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2247S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=72;refseq.start=143567169;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 1/0 chr1 143567223 . A G 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.588997;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6687T>C;refseq.codonCoord=2229;refseq.end=143567223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6978;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2229G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=18;refseq.start=143567223;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr1 143568257 . C T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.666667;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6585G>A;refseq.codonCoord=2195;refseq.end=143568257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6876;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2195A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-85;refseq.start=143568257;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr1 143574677 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.448696;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6083A>G;refseq.codonCoord=2028;refseq.end=143574677;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6374;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2028R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=143574677;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr1 143574712 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.461954;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6048C>T;refseq.codonCoord=2016;refseq.end=143574712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6339;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2016Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-38;refseq.start=143574712;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/0 chr1 143574723 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00577938;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6037C>T;refseq.codonCoord=2013;refseq.end=143574723;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6328;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2013L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-49;refseq.start=143574723;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr1 143575500 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1114;Dels=0.00;HRun=0;HaplotypeScore=18.45;MQ=5.55;MQ0=1077;OQ=91.71;QD=0.08;RankSumP=0.405950;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5952C>T;refseq.codonCoord=1984;refseq.end=143575500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6243;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1984N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=143575500;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 143575518 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.306428;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5934T>C;refseq.codonCoord=1978;refseq.end=143575518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6225;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1978R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-27;refseq.start=143575518;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr1 143575610 . T C 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.167906;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5842A>G;refseq.codonCoord=1948;refseq.end=143575610;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6133;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1948E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=72;refseq.start=143575610;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr1 143577207 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.456799;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5730C>A;refseq.codonCoord=1910;refseq.end=143577207;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6021;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1910E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-41;refseq.start=143577207;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 0/1 chr1 143578000 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0216339;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5599C>T;refseq.codonCoord=1867;refseq.end=143578000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5890;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1867C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-52;refseq.start=143578000;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr1 143578019 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.392900;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5580A>G;refseq.codonCoord=1860;refseq.end=143578019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5871;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1860E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=62;refseq.start=143578019;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr1 143579527 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.163709;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5269G>A;refseq.codonCoord=1757;refseq.end=143579527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5560;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1757T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=143579527;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr1 143583095 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.25389e-05;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5224G>T;refseq.codonCoord=1742;refseq.end=143583095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5515;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1742S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-43;refseq.start=143583095;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/0 chr1 143583112 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0752674;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5207T>A;refseq.codonCoord=1736;refseq.end=143583112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5498;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1736E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-60;refseq.start=143583112;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr1 143583139 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.218775;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5180T>C;refseq.codonCoord=1727;refseq.end=143583139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5471;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1727P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-87;refseq.start=143583139;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr1 143583186 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.196902;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5133G>A;refseq.codonCoord=1711;refseq.end=143583186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5424;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1711L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=53;refseq.start=143583186;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap GT 0/1 chr1 143585244 . C T 83 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=13;DB;DP=738;Dels=0.00;HRun=1;HaplotypeScore=62.23;MQ=11.72;MQ0=723;OQ=286.39;QD=0.39;RankSumP=0.00898022;SB=-10.00;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5070G>A;refseq.codonCoord=1690;refseq.end=143585244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5361;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1690Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-11;refseq.start=143585244;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr1 143586117 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=812;Dels=0.00;HRun=0;HaplotypeScore=12.80;MQ=1.05;MQ0=811;QD=0.01;RankSumP=0.425243;SB=-10.00;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4848A>G;refseq.codonCoord=1616;refseq.end=143586117;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5139;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1616E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-80;refseq.start=143586117;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr1 143586172 . T C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00194097;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4793A>G;refseq.codonCoord=1598;refseq.end=143586172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5084;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1598R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=90;refseq.start=143586172;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/0 chr1 143587336 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.374172;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4701C>G;refseq.codonCoord=1567;refseq.end=143587336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4992;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1567L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=143587336;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr1 143588533 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=13.42;MQ=34.28;MQ0=147;OQ=8221.05;QD=13.63;RankSumP=0.472546;SB=-2033.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4511G>A;refseq.codonCoord=1504;refseq.end=143588533;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4802;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1504Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=96;refseq.start=143588533;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 143590447 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.103610;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4360A>G;refseq.codonCoord=1454;refseq.end=143590447;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4651;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1454E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-56;refseq.start=143590447;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr1 143590732 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.379318;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4075A>G;refseq.codonCoord=1359;refseq.end=143590732;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4366;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1359E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=189;refseq.start=143590732;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr1 143590842 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.291069;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3965C>G;refseq.codonCoord=1322;refseq.end=143590842;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4256;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1322R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=79;refseq.start=143590842;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 0/1 chr1 143592189 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.120014;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3796A>G;refseq.codonCoord=1266;refseq.end=143592189;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4087;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1266E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=30;refseq.start=143592189;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr1 143593938 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.231831;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3438T>C;refseq.codonCoord=1146;refseq.end=143593938;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3729;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1146I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-136;refseq.start=143593938;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 0/1 chr1 143594180 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.307246;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3196G>A;refseq.codonCoord=1066;refseq.end=143594180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3487;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1066T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=59;refseq.start=143594180;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr1 143597554 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.459061;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3037T>A;refseq.codonCoord=1013;refseq.end=143597554;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3328;refseq.name=NM_014644;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1013I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-101;refseq.start=143597554;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 0/1 chr1 143617865 . C T 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2838G>A;refseq.codingCoordStr_2=c.2349G>A;refseq.codingCoordStr_3=c.2349G>A;refseq.codonCoord_1=946;refseq.codonCoord_2=783;refseq.codonCoord_3=783;refseq.end_1=143617865;refseq.end_2=143617865;refseq.end_3=143617865;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3162;refseq.mrnaCoord_2=2640;refseq.mrnaCoord_3=2640;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M946I;refseq.proteinCoordStr_2=p.M783I;refseq.proteinCoordStr_3=p.M783I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=143617865;refseq.start_2=143617865;refseq.start_3=143617865;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=soap GT 1/1 chr1 143623510 . A G 91.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=407;Dels=0.00;HRun=1;HaplotypeScore=10.36;MQ=97.37;MQ0=0;OQ=15654.90;QD=38.46;RankSumP=1.00000;SB=-7001.48;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2611T>C;refseq.codingCoordStr_2=c.2122T>C;refseq.codingCoordStr_3=c.2122T>C;refseq.codonCoord_1=871;refseq.codonCoord_2=708;refseq.codonCoord_3=708;refseq.end_1=143623510;refseq.end_2=143623510;refseq.end_3=143623510;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2935;refseq.mrnaCoord_2=2413;refseq.mrnaCoord_3=2413;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C871R;refseq.proteinCoordStr_2=p.C708R;refseq.proteinCoordStr_3=p.C708R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=143623510;refseq.start_2=143623510;refseq.start_3=143623510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr1 143623590 . C T 204.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=90.52;MQ0=3;OQ=4255.42;QD=20.17;RankSumP=0.0279132;SB=-976.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2531G>A;refseq.codingCoordStr_2=c.2042G>A;refseq.codingCoordStr_3=c.2042G>A;refseq.codonCoord_1=844;refseq.codonCoord_2=681;refseq.codonCoord_3=681;refseq.end_1=143623590;refseq.end_2=143623590;refseq.end_3=143623590;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2855;refseq.mrnaCoord_2=2333;refseq.mrnaCoord_3=2333;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R844H;refseq.proteinCoordStr_2=p.R681H;refseq.proteinCoordStr_3=p.R681H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.start_1=143623590;refseq.start_2=143623590;refseq.start_3=143623590;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr1 143626918 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.204216;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2353C>T;refseq.codingCoordStr_2=c.1864C>T;refseq.codingCoordStr_3=c.1864C>T;refseq.codonCoord_1=785;refseq.codonCoord_2=622;refseq.codonCoord_3=622;refseq.end_1=143626918;refseq.end_2=143626918;refseq.end_3=143626918;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2677;refseq.mrnaCoord_2=2155;refseq.mrnaCoord_3=2155;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R785*;refseq.proteinCoordStr_2=p.R622*;refseq.proteinCoordStr_3=p.R622*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.spliceDist_3=79;refseq.start_1=143626918;refseq.start_2=143626918;refseq.start_3=143626918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;refseq.variantCodon_3=TGA;set=soap GT 1/0 chr1 143626981 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.494903;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2290C>T;refseq.codingCoordStr_2=c.1801C>T;refseq.codingCoordStr_3=c.1801C>T;refseq.codonCoord_1=764;refseq.codonCoord_2=601;refseq.codonCoord_3=601;refseq.end_1=143626981;refseq.end_2=143626981;refseq.end_3=143626981;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2614;refseq.mrnaCoord_2=2092;refseq.mrnaCoord_3=2092;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L764L;refseq.proteinCoordStr_2=p.L601L;refseq.proteinCoordStr_3=p.L601L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=143626981;refseq.start_2=143626981;refseq.start_3=143626981;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=soap GT 1/0 chr1 143628105 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.0433698;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2096G>C;refseq.codingCoordStr_2=c.1607G>C;refseq.codingCoordStr_3=c.1607G>C;refseq.codonCoord_1=699;refseq.codonCoord_2=536;refseq.codonCoord_3=536;refseq.end_1=143628105;refseq.end_2=143628105;refseq.end_3=143628105;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2420;refseq.mrnaCoord_2=1898;refseq.mrnaCoord_3=1898;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S699T;refseq.proteinCoordStr_2=p.S536T;refseq.proteinCoordStr_3=p.S536T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=143628105;refseq.start_2=143628105;refseq.start_3=143628105;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=soap GT 1/0 chr1 143628903 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0471696;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2047T>C;refseq.codingCoordStr_2=c.1558T>C;refseq.codingCoordStr_3=c.1558T>C;refseq.codonCoord_1=683;refseq.codonCoord_2=520;refseq.codonCoord_3=520;refseq.end_1=143628903;refseq.end_2=143628903;refseq.end_3=143628903;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2371;refseq.mrnaCoord_2=1849;refseq.mrnaCoord_3=1849;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L683L;refseq.proteinCoordStr_2=p.L520L;refseq.proteinCoordStr_3=p.L520L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=143628903;refseq.start_2=143628903;refseq.start_3=143628903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=soap GT 0/1 chr1 143629198 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.331038;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1934A>G;refseq.codingCoordStr_2=c.1445A>G;refseq.codingCoordStr_3=c.1445A>G;refseq.codonCoord_1=645;refseq.codonCoord_2=482;refseq.codonCoord_3=482;refseq.end_1=143629198;refseq.end_2=143629198;refseq.end_3=143629198;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2258;refseq.mrnaCoord_2=1736;refseq.mrnaCoord_3=1736;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H645R;refseq.proteinCoordStr_2=p.H482R;refseq.proteinCoordStr_3=p.H482R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=143629198;refseq.start_2=143629198;refseq.start_3=143629198;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=soap GT 1/0 chr1 143630237 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.269748;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1795A>G;refseq.codingCoordStr_2=c.1306A>G;refseq.codingCoordStr_3=c.1306A>G;refseq.codonCoord_1=599;refseq.codonCoord_2=436;refseq.codonCoord_3=436;refseq.end_1=143630237;refseq.end_2=143630237;refseq.end_3=143630237;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2119;refseq.mrnaCoord_2=1597;refseq.mrnaCoord_3=1597;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I599V;refseq.proteinCoordStr_2=p.I436V;refseq.proteinCoordStr_3=p.I436V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=143630237;refseq.start_2=143630237;refseq.start_3=143630237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=soap GT 1/0 chr1 143630261 . C G 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.290031;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1771G>C;refseq.codingCoordStr_2=c.1282G>C;refseq.codingCoordStr_3=c.1282G>C;refseq.codonCoord_1=591;refseq.codonCoord_2=428;refseq.codonCoord_3=428;refseq.end_1=143630261;refseq.end_2=143630261;refseq.end_3=143630261;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2095;refseq.mrnaCoord_2=1573;refseq.mrnaCoord_3=1573;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E591Q;refseq.proteinCoordStr_2=p.E428Q;refseq.proteinCoordStr_3=p.E428Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.start_1=143630261;refseq.start_2=143630261;refseq.start_3=143630261;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=soap GT 1/0 chr1 143630314 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0857137;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1718A>T;refseq.codingCoordStr_2=c.1229A>T;refseq.codingCoordStr_3=c.1229A>T;refseq.codonCoord_1=573;refseq.codonCoord_2=410;refseq.codonCoord_3=410;refseq.end_1=143630314;refseq.end_2=143630314;refseq.end_3=143630314;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2042;refseq.mrnaCoord_2=1520;refseq.mrnaCoord_3=1520;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E573V;refseq.proteinCoordStr_2=p.E410V;refseq.proteinCoordStr_3=p.E410V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=143630314;refseq.start_2=143630314;refseq.start_3=143630314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=soap GT 1/0 chr1 143633281 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.136424;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1594C>T;refseq.codingCoordStr_2=c.1105C>T;refseq.codingCoordStr_3=c.1105C>T;refseq.codonCoord_1=532;refseq.codonCoord_2=369;refseq.codonCoord_3=369;refseq.end_1=143633281;refseq.end_2=143633281;refseq.end_3=143633281;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1918;refseq.mrnaCoord_2=1396;refseq.mrnaCoord_3=1396;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L532L;refseq.proteinCoordStr_2=p.L369L;refseq.proteinCoordStr_3=p.L369L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.start_1=143633281;refseq.start_2=143633281;refseq.start_3=143633281;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=soap GT 1/0 chr1 143633940 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=545;Dels=0.00;HRun=1;HaplotypeScore=7.59;MQ=11.76;MQ0=536;OQ=63.74;QD=0.12;RankSumP=0.0503477;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1313C>T;refseq.codingCoordStr_2=c.824C>T;refseq.codingCoordStr_3=c.824C>T;refseq.codonCoord_1=438;refseq.codonCoord_2=275;refseq.codonCoord_3=275;refseq.end_1=143633940;refseq.end_2=143633940;refseq.end_3=143633940;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1637;refseq.mrnaCoord_2=1115;refseq.mrnaCoord_3=1115;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002811;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S438L;refseq.proteinCoordStr_2=p.S275L;refseq.proteinCoordStr_3=p.S275L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=143633940;refseq.start_2=143633940;refseq.start_3=143633940;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr1 143641953 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1307.55;QD=11.27;RankSumP=0.372107;SB=-502.94;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.1113G>T;refseq.codonCoord_3=371;refseq.end_1=143657971;refseq.end_2=143657971;refseq.end_3=143641953;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1437;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002812;refseq.name_2=NM_014644;refseq.name_3=NM_001002811;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P371P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCG;refseq.spliceDist_3=-13;refseq.start_1=143635189;refseq.start_2=143635189;refseq.start_3=143641953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr1 143642297 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=659;Dels=0.00;HRun=1;HaplotypeScore=17.33;MQ=98.79;MQ0=0;OQ=13751.15;QD=20.87;RankSumP=0.423129;SB=-5402.13;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.769A>G;refseq.codonCoord_3=257;refseq.end_1=143657971;refseq.end_2=143657971;refseq.end_3=143642297;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1093;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002812;refseq.name_2=NM_014644;refseq.name_3=NM_001002811;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K257E;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAA;refseq.spliceDist_3=-357;refseq.start_1=143635189;refseq.start_2=143635189;refseq.start_3=143642297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr1 143642687 . C T 166.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.73;MQ0=0;OQ=9705.57;QD=18.42;RankSumP=0.434530;SB=-3393.17;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.379G>A;refseq.codonCoord_3=127;refseq.end_1=143657971;refseq.end_2=143657971;refseq.end_3=143642687;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=703;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002812;refseq.name_2=NM_014644;refseq.name_3=NM_001002811;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A127T;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_3=703;refseq.start_1=143635189;refseq.start_2=143635189;refseq.start_3=143642687;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr1 143642749 . G A 230.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.69;MQ0=0;OQ=3094.93;QD=14.67;RankSumP=0.162764;SB=-757.02;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.317C>T;refseq.codonCoord_3=106;refseq.end_1=143657971;refseq.end_2=143657971;refseq.end_3=143642749;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=641;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002812;refseq.name_2=NM_014644;refseq.name_3=NM_001002811;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A106V;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_3=641;refseq.start_1=143635189;refseq.start_2=143635189;refseq.start_3=143642749;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr1 143642818 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.91;MQ0=0;OQ=573.87;QD=6.52;RankSumP=0.144918;SB=-268.47;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.248T>A;refseq.codonCoord_3=83;refseq.end_1=143657971;refseq.end_2=143657971;refseq.end_3=143642818;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=572;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name_1=NM_001002812;refseq.name_2=NM_014644;refseq.name_3=NM_001002811;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L83Q;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTA;refseq.spliceDist_3=572;refseq.start_1=143635189;refseq.start_2=143635189;refseq.start_3=143642818;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gln;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr1 143663564 . C T 27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1017;Dels=0.00;HRun=1;HaplotypeScore=16.24;MQ=25.46;MQ0=355;OQ=6072.43;QD=5.97;RankSumP=1.00000;SB=-1397.61;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.512G>A;refseq.codingCoordStr_2=c.512G>A;refseq.codingCoordStr_3=c.512G>A;refseq.codingCoordStr_4=c.923G>A;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.codonCoord_4=308;refseq.end_1=143663564;refseq.end_2=143663564;refseq.end_3=143663564;refseq.end_4=143663564;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=803;refseq.mrnaCoord_3=803;refseq.mrnaCoord_4=1140;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name2_4=PDE4DIP;refseq.name_1=NM_001002810;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.name_4=NM_022359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R171K;refseq.proteinCoordStr_2=p.R171K;refseq.proteinCoordStr_3=p.R171K;refseq.proteinCoordStr_4=p.R308K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=170;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceDist_4=170;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=143663564;refseq.start_2=143663564;refseq.start_3=143663564;refseq.start_4=143663564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr1 143663577 . C T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1025;Dels=0.00;HRun=0;HaplotypeScore=38.35;MQ=23.16;MQ0=501;OQ=6831.07;QD=6.66;RankSumP=1.00000;SB=-2494.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.499G>A;refseq.codingCoordStr_2=c.499G>A;refseq.codingCoordStr_3=c.499G>A;refseq.codingCoordStr_4=c.910G>A;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=167;refseq.codonCoord_4=304;refseq.end_1=143663577;refseq.end_2=143663577;refseq.end_3=143663577;refseq.end_4=143663577;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=790;refseq.mrnaCoord_2=790;refseq.mrnaCoord_3=790;refseq.mrnaCoord_4=1127;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name2_4=PDE4DIP;refseq.name_1=NM_001002810;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.name_4=NM_022359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A167T;refseq.proteinCoordStr_2=p.A167T;refseq.proteinCoordStr_3=p.A167T;refseq.proteinCoordStr_4=p.A304T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=157;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=157;refseq.start_1=143663577;refseq.start_2=143663577;refseq.start_3=143663577;refseq.start_4=143663577;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=soap-filterIngatk GT 1/1 chr1 143663612 rs61805377 G C 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=796;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=17.12;MQ0=684;OQ=678.48;QD=0.85;SB=-324.19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.464C>G;refseq.codingCoordStr_2=c.464C>G;refseq.codingCoordStr_3=c.464C>G;refseq.codingCoordStr_4=c.875C>G;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.codonCoord_3=155;refseq.codonCoord_4=292;refseq.end_1=143663612;refseq.end_2=143663612;refseq.end_3=143663612;refseq.end_4=143663612;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=755;refseq.mrnaCoord_3=755;refseq.mrnaCoord_4=1092;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name2_4=PDE4DIP;refseq.name_1=NM_001002810;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.name_4=NM_022359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P155R;refseq.proteinCoordStr_2=p.P155R;refseq.proteinCoordStr_3=p.P155R;refseq.proteinCoordStr_4=p.P292R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=122;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=122;refseq.start_1=143663612;refseq.start_2=143663612;refseq.start_3=143663612;refseq.start_4=143663612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;refseq.variantCodon_4=CGA;set=gatk GT:AD:DP:GL:GQ 0/1:710,86:84:-96.43,-25.30,-284.35:99 chr1 143706015 . C A 127.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=605;Dels=0.00;HRun=0;HaplotypeScore=13.96;MQ=98.74;MQ0=0;OQ=12323.18;QD=20.37;RankSumP=0.251138;SB=-4073.01;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.74G>T;refseq.codingCoordStr_2=c.74G>T;refseq.codingCoordStr_3=c.74G>T;refseq.codingCoordStr_4=c.485G>T;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.codonCoord_3=25;refseq.codonCoord_4=162;refseq.end_1=143706015;refseq.end_2=143706015;refseq.end_3=143706015;refseq.end_4=143706015;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=365;refseq.mrnaCoord_3=365;refseq.mrnaCoord_4=702;refseq.name2_1=PDE4DIP;refseq.name2_2=PDE4DIP;refseq.name2_3=PDE4DIP;refseq.name2_4=PDE4DIP;refseq.name_1=NM_001002810;refseq.name_2=NM_001002812;refseq.name_3=NM_014644;refseq.name_4=NM_022359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R25L;refseq.proteinCoordStr_2=p.R25L;refseq.proteinCoordStr_3=p.R25L;refseq.proteinCoordStr_4=p.R162L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.spliceDist_4=44;refseq.start_1=143706015;refseq.start_2=143706015;refseq.start_3=143706015;refseq.start_4=143706015;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/0 chr1 143732507 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=833;Dels=0.00;HRun=2;HaplotypeScore=26.67;MQ=98.86;MQ0=0;OQ=6638.39;QD=7.97;RankSumP=0.153599;SB=-1507.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.251A>G;refseq.codonCoord=84;refseq.end=143732507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_022359;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D84G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=18;refseq.start=143732507;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/0 chr1 143787040 . C T 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=97.56;MQ0=0;OQ=263.70;QD=2.69;RankSumP=0.433496;SB=-83.52;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.180G>A;refseq.codonCoord=60;refseq.end=143787040;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_022359;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.W60*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-54;refseq.start=143787040;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 0/1 chr1 143787132 . G A 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=249;Dels=0.00;HRun=0;HaplotypeScore=20.63;MQ=98.47;MQ0=0;OQ=168.54;QD=0.68;RankSumP=0.419988;SB=-44.35;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.88C>T;refseq.codonCoord=30;refseq.end=143787132;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_022359;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P30S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-146;refseq.start=143787132;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 1/0 chr1 143787211 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=133;Dels=0.00;HRun=3;HaplotypeScore=18.89;MQ=96.48;MQ0=0;OQ=2091.86;QD=15.73;RankSumP=0.313039;SB=-55.46;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9C>G;refseq.codonCoord=3;refseq.end=143787211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_022359;refseq.name2=PDE4DIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-225;refseq.start=143787211;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 143960233 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.462881;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.20A>G;refseq.codonCoord=7;refseq.end=143960233;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N7S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-19;refseq.start=143960233;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr1 143984659 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=2256;Dels=0.00;HRun=1;HaplotypeScore=73.35;MQ=28.17;MQ0=1129;OQ=7004.45;QD=3.10;RankSumP=0.498740;SB=-1392.96;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.156A>G;refseq.codonCoord=52;refseq.end=143984659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R52R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=118;refseq.start=143984659;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap-filterIngatk GT 0/1 chr1 143984702 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2438;Dels=0.00;HRun=1;HaplotypeScore=68.01;MQ=34.20;MQ0=270;OQ=13736.86;QD=5.63;RankSumP=0.131877;SB=-3686.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.199T>C;refseq.codonCoord=67;refseq.end=143984702;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S67P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-100;refseq.start=143984702;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/0 chr1 143992765 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=3099;Dels=0.00;HRun=0;HaplotypeScore=41.32;MQ=21.07;MQ0=1104;OQ=15412.32;QD=4.97;RankSumP=0.639605;SB=-3665.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.338C>T;refseq.codonCoord=113;refseq.end=143992765;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P113L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=40;refseq.start=143992765;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 0/1 chr1 143992900 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=956;Dels=0.00;HRun=0;HaplotypeScore=113.36;MQ=28.46;MQ0=360;OQ=5390.53;QD=5.64;RankSumP=0.122404;SB=-1616.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=143992900;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T158I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-162;refseq.start=143992900;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 0/1 chr1 143992970 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=951;Dels=0.00;HRun=0;HaplotypeScore=46.93;MQ=41.71;MQ0=33;OQ=6630.30;QD=6.97;RankSumP=0.464216;SB=-1991.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.543C>A;refseq.codonCoord=181;refseq.end=143992970;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S181R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-92;refseq.start=143992970;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 1/0 chr1 143992990 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1089;Dels=0.00;HRun=0;HaplotypeScore=34.36;MQ=40.43;MQ0=95;OQ=6573.88;QD=6.04;RankSumP=0.449703;SB=-1723.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.563C>A;refseq.codonCoord=188;refseq.end=143992990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P188H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-72;refseq.start=143992990;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr1 143993013 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1087;Dels=0.00;HRun=0;HaplotypeScore=17.05;MQ=35.19;MQ0=240;OQ=796.17;QD=0.73;RankSumP=0.0291949;SB=-8.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.586A>T;refseq.codonCoord=196;refseq.end=143993013;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_203458;refseq.name2=NOTCH2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T196S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-49;refseq.start=143993013;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr1 144209539 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr1;refseq.codingCoordStr=c.771+2;refseq.end=144209539;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_153713;refseq.name2=LIX1L;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=144209539;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 144243906 . T C 281.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=6.69;MQ=98.53;MQ0=0;OQ=8993.71;QD=41.07;RankSumP=1.00000;SB=-3016.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1002T>C;refseq.codonCoord=334;refseq.end=144243906;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1078;refseq.name=NM_003637;refseq.name2=ITGA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F334F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-74;refseq.start=144243906;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 144245234 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1523C>G;refseq.codonCoord=508;refseq.end=144245234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1599;refseq.name=NM_003637;refseq.name2=ITGA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A508G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-65;refseq.start=144245234;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr1 144246346 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1892T>G;refseq.codonCoord=631;refseq.end=144246346;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1968;refseq.name=NM_003637;refseq.name2=ITGA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V631G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-31;refseq.start=144246346;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 144272473 . G A 184.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=7.15;MQ=98.81;MQ0=0;OQ=2286.06;QD=17.19;RankSumP=0.353515;SB=-877.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.804G>A;refseq.codonCoord=268;refseq.end=144272473;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_144698;refseq.name2=ANKRD35;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q268Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=21;refseq.start=144272473;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 144273444 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.79;MQ0=0;OQ=763.44;QD=18.62;RankSumP=0.611439;SB=-320.80;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1775G>A;refseq.codonCoord=592;refseq.end=144273444;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1883;refseq.name=NM_144698;refseq.name2=ANKRD35;refseq.positionType=CDS;refseq.proteinCoordStr=p.R592Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=992;refseq.start=144273444;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 144273650 . G C 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=6.48;MQ=95.66;MQ0=0;OQ=1211.68;QD=26.34;RankSumP=1.00000;SB=-564.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1981G>C;refseq.codonCoord=661;refseq.end=144273650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2089;refseq.name=NM_144698;refseq.name2=ANKRD35;refseq.positionType=CDS;refseq.proteinCoordStr=p.E661Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-807;refseq.start=144273650;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 144308902 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1039A>C;refseq.codonCoord=347;refseq.end=144308902;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_006468;refseq.name2=POLR3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T347P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=30;refseq.start=144308902;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 144459917 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.601430;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.433T>C;refseq.codonCoord=145;refseq.end=144459917;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_002614;refseq.name2=PDZK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y145H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-28;refseq.start=144459917;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr1 144472659 . T A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.294942;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1115T>A;refseq.codonCoord=372;refseq.end=144472659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_002614;refseq.name2=PDZK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V372E;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-101;refseq.start=144472659;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr1 144480853 . A C 70 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=2.03489e-06;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1007T>G;refseq.codingCoordStr_2=c.647T>G;refseq.codonCoord_1=336;refseq.codonCoord_2=216;refseq.end_1=144480853;refseq.end_2=144480853;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1181;refseq.mrnaCoord_2=1201;refseq.name2_1=GPR89A;refseq.name2_2=GPR89A;refseq.name_1=NM_001097612;refseq.name_2=NM_001097613;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V336G;refseq.proteinCoordStr_2=p.V216G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=144480853;refseq.start_2=144480853;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 144757744 rs28626270 T C 42.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=582;Dels=0.00;HRun=1;HaplotypeScore=15.54;MQ=2.10;MQ0=575;QD=0.07;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1263A>G;refseq.codingCoordStr_2=c.1263A>G;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.end_1=144757744;refseq.end_2=144757744;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1926;refseq.mrnaCoord_2=1926;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R421R;refseq.proteinCoordStr_2=p.R421R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=144757744;refseq.start_2=144757744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:446,136:2:-7.64,-0.60,-0.00:6.02 chr1 144759594 . A G 11.45 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1692;Dels=0.00;HRun=0;HaplotypeScore=51.65;MQ=0.66;MQ0=1691;QD=0.01;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.913T>C;refseq.codingCoordStr_2=c.913T>C;refseq.codonCoord_1=305;refseq.codonCoord_2=305;refseq.end_1=144759594;refseq.end_2=144759594;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1576;refseq.mrnaCoord_2=1576;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L305L;refseq.proteinCoordStr_2=p.L305L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=144759594;refseq.start_2=144759594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1669,19:1:-4.40,-0.30,-0.00:1.76 chr1 144762391 . C G 0.06 PASS AC=2;AF=1.00;AN=2;DP=771;Dels=0.00;HRun=0;HaplotypeScore=10.49;MQ=1.60;MQ0=768;OQ=108.98;QD=0.14;SB=-56.93;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.727G>C;refseq.codingCoordStr_2=c.727G>C;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.end_1=144762391;refseq.end_2=144762391;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1390;refseq.mrnaCoord_2=1390;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V243L;refseq.proteinCoordStr_2=p.V243L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=144762391;refseq.start_2=144762391;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=gatk GT:AD:DP:GL:GQ 1/1:680,91:3:-14.39,-0.90,-0.00:9.03 chr1 144762457 rs6675215 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=538;Dels=0.00;HRun=0;HaplotypeScore=61.87;MQ=1.91;MQ0=535;OQ=75.45;QD=0.14;SB=-45.96;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.661T>C;refseq.codingCoordStr_2=c.661T>C;refseq.codonCoord_1=221;refseq.codonCoord_2=221;refseq.end_1=144762457;refseq.end_2=144762457;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1324;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C221R;refseq.proteinCoordStr_2=p.C221R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=144762457;refseq.start_2=144762457;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:315,223:3:-11.03,-0.90,-0.00:9.03 chr1 145110204 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=97.00;MQ0=0;OQ=741.76;QD=16.13;RankSumP=0.632855;SB=-332.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=145110204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_005399;refseq.name2=PRKAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L48L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-13;refseq.start=145110204;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr1 145139530 . C T 356.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.82;MQ0=0;OQ=5174.72;QD=19.09;RankSumP=0.00515215;SB=-1501.47;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.1011G>A;refseq.codingCoordStr_3=c.1011G>A;refseq.codonCoord_2=337;refseq.codonCoord_3=337;refseq.end_1=145147027;refseq.end_2=145139530;refseq.end_3=145139530;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1410;refseq.mrnaCoord_3=1400;refseq.name2_1=FMO5;refseq.name2_2=FMO5;refseq.name2_3=FMO5;refseq.name_1=NM_001144830;refseq.name_2=NM_001144829;refseq.name_3=NM_001461;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P337P;refseq.proteinCoordStr_3=p.P337P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_2=-173;refseq.spliceDist_3=-173;refseq.start_1=145128463;refseq.start_2=145139530;refseq.start_3=145139530;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=filterInsoap-gatk GT 0/1 chr1 145139610 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.931G>C;refseq.codingCoordStr_3=c.931G>C;refseq.codonCoord_2=311;refseq.codonCoord_3=311;refseq.end_1=145147027;refseq.end_2=145139610;refseq.end_3=145139610;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1330;refseq.mrnaCoord_3=1320;refseq.name2_1=FMO5;refseq.name2_2=FMO5;refseq.name2_3=FMO5;refseq.name_1=NM_001144830;refseq.name_2=NM_001144829;refseq.name_3=NM_001461;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A311P;refseq.proteinCoordStr_3=p.A311P;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_2=101;refseq.spliceDist_3=101;refseq.start_1=145128463;refseq.start_2=145139610;refseq.start_3=145139610;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=FilteredInAll GT 1/0 chr1 145181016 . G C 43.04 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=7.17;RankSumP=0.400000;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.39G>C;refseq.codonCoord=13;refseq.end=145181016;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_004284;refseq.name2=CHD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-89;refseq.start=145181016;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 145181051 . G C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=198.79;QD=24.85;RankSumP=0.392857;SB=-94.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.74G>C;refseq.codonCoord=25;refseq.end=145181051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=137;refseq.name=NM_004284;refseq.name2=CHD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R25P;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-54;refseq.start=145181051;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 145218406 . A C 300.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.87;MQ0=0;OQ=8772.44;QD=39.87;RankSumP=1.00000;SB=-3656.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1623A>C;refseq.codonCoord=541;refseq.end=145218406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1686;refseq.name=NM_004284;refseq.name2=CHD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I541I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-83;refseq.start=145218406;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 145225944 . C G 106.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.89;MQ0=0;OQ=2429.21;QD=22.92;RankSumP=0.304073;SB=-402.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2228C>G;refseq.codonCoord=743;refseq.end=145225944;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2291;refseq.name=NM_004284;refseq.name2=CHD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S743C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=145225944;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 145233773 . G T 333.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=98.72;MQ0=0;OQ=5503.54;QD=38.49;RankSumP=1.00000;SB=-2366.12;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2653G>T;refseq.codonCoord=885;refseq.end=145233773;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2716;refseq.name=NM_004284;refseq.name2=CHD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A885S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=38;refseq.start=145233773;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 145558596 . C T 418.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6604.33;QD=41.80;RankSumP=1.00000;SB=-2774.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2011C>T;refseq.codonCoord=671;refseq.end=145558596;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2751;refseq.name=NM_004326;refseq.name2=BCL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P671S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-892;refseq.start=145558596;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 145558976 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2391G>T;refseq.codonCoord=797;refseq.end=145558976;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3131;refseq.name=NM_004326;refseq.name2=BCL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L797F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-512;refseq.start=145558976;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr1 145559070 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2485A>C;refseq.codonCoord=829;refseq.end=145559070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3225;refseq.name=NM_004326;refseq.name2=BCL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T829P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-418;refseq.start=145559070;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 145562350 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3247A>C;refseq.codonCoord=1083;refseq.end=145562350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3987;refseq.name=NM_004326;refseq.name2=BCL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1083P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=84;refseq.start=145562350;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 145585897 . G A 171.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.73;MQ0=0;OQ=20640.94;QD=42.47;RankSumP=1.00000;SB=-8834.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1239C>T;refseq.codonCoord=413;refseq.end=145585897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1703;refseq.name=NM_016361;refseq.name2=ACP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H413H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=96;refseq.start=145585897;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 145588601 . C T 421.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.57;MQ0=0;OQ=6765.30;QD=41.25;RankSumP=1.00000;SB=-3369.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.946G>A;refseq.codonCoord=316;refseq.end=145588601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1410;refseq.name=NM_016361;refseq.name2=ACP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V316M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-32;refseq.start=145588601;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 145590934 . T G 345.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.47;MQ0=0;OQ=8205.38;QD=36.80;RankSumP=1.00000;SB=-3354.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.823A>C;refseq.codonCoord=275;refseq.end=145590934;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_016361;refseq.name2=ACP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R275R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=43;refseq.start=145590934;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 146042804 . G A 11.18 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=464;Dels=0.00;HRun=0;HaplotypeScore=20.22;MQ=1.16;MQ0=463;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2366C>T;refseq.codingCoordStr_2=c.2366C>T;refseq.codonCoord_1=789;refseq.codonCoord_2=789;refseq.end_1=146042804;refseq.end_2=146042804;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3029;refseq.mrnaCoord_2=3029;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A789V;refseq.proteinCoordStr_2=p.A789V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=146042804;refseq.start_2=146042804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:460,4:1:-4.37,-0.30,-0.00:1.76 chr1 146047415 rs61812001 T C 34.77 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=570;Dels=0.00;HRun=0;HaplotypeScore=41.66;MQ=3.87;MQ0=557;QD=0.06;SB=-39.67;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1777A>G;refseq.codingCoordStr_2=c.1777A>G;refseq.codonCoord_1=593;refseq.codonCoord_2=593;refseq.end_1=146047415;refseq.end_2=146047415;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2440;refseq.mrnaCoord_2=2440;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I593V;refseq.proteinCoordStr_2=p.I593V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=146047415;refseq.start_2=146047415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:421,149:4:-7.97,-1.21,-7.52:63.17 chr1 146057581 rs6666178 C A 40.25 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=1482;Dels=0.00;HRun=0;HaplotypeScore=38.33;MQ=0.89;MQ0=1477;QD=0.03;SB=-41.39;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.812G>T;refseq.codingCoordStr_2=c.812G>T;refseq.codonCoord_1=271;refseq.codonCoord_2=271;refseq.end_1=146057581;refseq.end_2=146057581;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1475;refseq.mrnaCoord_2=1475;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R271L;refseq.proteinCoordStr_2=p.R271L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=146057581;refseq.start_2=146057581;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:787,694:2:-7.43,-0.60,-0.00:6.02 chr1 146057606 rs61804562 T G 46.49 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=1294;Dels=0.00;HRun=1;HaplotypeScore=56.57;MQ=0.96;MQ0=1289;QD=0.04;SB=-48.57;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.787A>C;refseq.codingCoordStr_2=c.787A>C;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.end_1=146057606;refseq.end_2=146057606;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1450;refseq.mrnaCoord_2=1450;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I263L;refseq.proteinCoordStr_2=p.I263L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=146057606;refseq.start_2=146057606;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1011,282:2:-8.06,-0.60,-0.00:6.02 chr1 146059444 . C G 0.01 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=674;Dels=0.00;HRun=0;HaplotypeScore=5.75;MQ=1.63;MQ0=672;OQ=59.85;QD=0.09;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.727G>C;refseq.codingCoordStr_2=c.727G>C;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.end_1=146059444;refseq.end_2=146059444;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1390;refseq.mrnaCoord_2=1390;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V243L;refseq.proteinCoordStr_2=p.V243L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=146059444;refseq.start_2=146059444;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:587,86:2:-9.39,-0.60,-0.00:6.02 chr1 146059510 rs6675215 A G 44.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=557;Dels=0.00;HRun=0;HaplotypeScore=68.72;MQ=2.07;MQ0=553;QD=0.08;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.661T>C;refseq.codingCoordStr_2=c.661T>C;refseq.codonCoord_1=221;refseq.codonCoord_2=221;refseq.end_1=146059510;refseq.end_2=146059510;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1324;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C221R;refseq.proteinCoordStr_2=p.C221R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=146059510;refseq.start_2=146059510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:326,229:2:-7.84,-0.60,-0.00:6.02 chr1 146059514 rs6678406 T C 46.84 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=88.76;MQ=1.98;MQ0=600;QD=0.08;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.657A>G;refseq.codingCoordStr_2=c.657A>G;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=146059514;refseq.end_2=146059514;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=1320;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K219K;refseq.proteinCoordStr_2=p.K219K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=104;refseq.spliceDist_2=104;refseq.start_1=146059514;refseq.start_2=146059514;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:421,183:2:-8.09,-0.60,-0.00:6.02 chr1 146061701 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=639;Dels=0.00;HRun=0;HaplotypeScore=37.15;MQ=1.99;MQ0=636;OQ=97.13;QD=0.15;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.276C>T;refseq.codingCoordStr_2=c.276C>T;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=146061701;refseq.end_2=146061701;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=939;refseq.name2_1=NBPF11;refseq.name2_2=LOC200030;refseq.name_1=NM_001101663;refseq.name_2=NM_183372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D92D;refseq.proteinCoordStr_2=p.D92D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=146061701;refseq.start_2=146061701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 1/0 chr1 146421585 rs28479875 G C 0.69 PASS AC=2;AF=1.00;AN=2;DB;DP=697;Dels=0.00;HRun=0;HaplotypeScore=13.49;MQ=1.43;MQ0=694;OQ=53.76;QD=0.08;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.384C>G;refseq.codonCoord=128;refseq.end=146421585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_178230;refseq.name2=PPIAL4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A128A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-202;refseq.start=146421585;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 1/1:631,66:2:-8.78,-0.60,-0.00:6.02 chr1 146421880 rs2691730 A G 10.53 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=13.13;MQ=1.35;MQ0=316;QD=0.03;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.89T>C;refseq.codonCoord=30;refseq.end=146421880;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_178230;refseq.name2=PPIAL4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=164;refseq.start=146421880;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:234,83:1:-4.30,-0.30,-0.00:1.76 chr1 146471172 . T C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0708109;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2766A>G;refseq.codonCoord=922;refseq.end=146471172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2783;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.*922*;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=244;refseq.start=146471172;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=soap GT 1/0 chr1 146471249 . C A 18 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1438;Dels=0.00;HRun=1;HaplotypeScore=41.42;MQ=11.85;MQ0=1326;OQ=141.46;QD=0.10;RankSumP=0.437727;SB=-7.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2689G>T;refseq.codonCoord=897;refseq.end=146471249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2706;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V897L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=167;refseq.start=146471249;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr1 146476134 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1476;Dels=0.00;HRun=0;HaplotypeScore=329.36;MQ=79.75;MQ0=5;OQ=12395.02;QD=8.40;RankSumP=0.480867;SB=-2601.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1797C>T;refseq.codonCoord=599;refseq.end=146476134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1814;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S599S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=146476134;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chr1 146476141 . C A 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1346;Dels=0.00;HRun=0;HaplotypeScore=300.87;MQ=76.61;MQ0=5;OQ=11464.55;QD=8.52;RankSumP=0.00488144;SB=-1467.91;SecondBestBaseQ=31;refseq.chr=chr1;refseq.codingCoordStr=c.1791-1;refseq.end=146476141;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=146476141;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr1 146477535 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6658;Dels=0.00;HRun=0;HaplotypeScore=350.17;MQ=2.95;MQ0=6428;OQ=625.59;QD=0.09;RankSumP=0.111125;SB=-0.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1711C>T;refseq.codonCoord=571;refseq.end=146477535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1728;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R571C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-28;refseq.start=146477535;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap-filterIngatk GT 1/0 chr1 146477539 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.427063;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1707A>G;refseq.codonCoord=569;refseq.end=146477539;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1724;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q569Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-32;refseq.start=146477539;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr1 146477563 . T A 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.139009;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1683A>T;refseq.codonCoord=561;refseq.end=146477563;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1700;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R561S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-56;refseq.start=146477563;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/0 chr1 146477566 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.154118;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1680C>T;refseq.codonCoord=560;refseq.end=146477566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1697;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y560Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-59;refseq.start=146477566;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chr1 146477611 . T C 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=3947;Dels=0.00;HRun=0;HaplotypeScore=183.74;MQ=5.12;MQ0=3580;OQ=59.65;QD=0.02;RankSumP=0.138333;SB=59.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1635A>G;refseq.codonCoord=545;refseq.end=146477611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S545S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=70;refseq.start=146477611;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 1/0 chr1 146477651 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0506536;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1595G>A;refseq.codonCoord=532;refseq.end=146477651;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G532E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=30;refseq.start=146477651;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr1 146477661 . C G 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.500000;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1585G>C;refseq.codonCoord=529;refseq.end=146477661;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1602;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D529H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=20;refseq.start=146477661;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr1 146479193 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1390C>T;refseq.codonCoord=464;refseq.end=146479193;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1407;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q464*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-67;refseq.start=146479193;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 1/0 chr1 146482258 . T C 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.997A>G;refseq.codonCoord=333;refseq.end=146482258;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N333D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=146482258;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/1 chr1 146482275 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.238095;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.980G>A;refseq.codonCoord=327;refseq.end=146482275;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R327H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-27;refseq.start=146482275;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 0/1 chr1 146482292 . G A 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.963C>T;refseq.codonCoord=321;refseq.end=146482292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=980;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y321Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-44;refseq.start=146482292;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/1 chr1 146482337 . A G 0.07 PASS AC=2;AF=1.00;AN=2;DP=543;Dels=0.00;HRun=1;HaplotypeScore=10.43;MQ=2.76;MQ0=523;OQ=132.51;QD=0.24;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.918T>C;refseq.codonCoord=306;refseq.end=146482337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.C306C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=85;refseq.start=146482337;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=gatk GT:AD:DP:GL:GQ 1/1:472,71:4:-16.78,-1.20,-0.00:12.04 chr1 146484202 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2632;Dels=0.00;HRun=0;HaplotypeScore=66.36;MQ=13.61;MQ0=1477;OQ=1796.83;QD=0.68;RankSumP=0.420714;SB=-670.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.705G>A;refseq.codonCoord=235;refseq.end=146484202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L235L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-77;refseq.start=146484202;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap-filterIngatk GT 0/1 chr1 146484253 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1457;Dels=0.00;HRun=1;HaplotypeScore=23.12;MQ=9.30;MQ0=1190;OQ=1485.73;QD=1.02;RankSumP=0.708748;SB=61.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.654G>A;refseq.codonCoord=218;refseq.end=146484253;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q218Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=146484253;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr1 146489659 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.457C>A;refseq.codonCoord=153;refseq.end=146489659;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q153K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=98;refseq.start=146489659;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/1 chr1 146489664 . G C -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2252;Dels=0.00;HRun=0;HaplotypeScore=221.19;MQ=2.92;MQ0=2224;OQ=54.95;QD=0.02;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.452C>G;refseq.codonCoord=151;refseq.end=146489664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=469;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=93;refseq.start=146489664;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1965,283:6:-10.59,-1.81,-19.79:87.79 chr1 146489705 rs9437906 T C 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=1979;Dels=0.00;HRun=0;HaplotypeScore=24.28;MQ=3.19;MQ0=1950;OQ=113.94;QD=0.06;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.411A>G;refseq.codonCoord=137;refseq.end=146489705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E137E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=52;refseq.start=146489705;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=gatk GT:AD:DP:GL:GQ 0/1:1897,80:7:-16.79,-2.11,-13.80:99 chr1 146490279 . C G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.433602;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.301G>C;refseq.codonCoord=101;refseq.end=146490279;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D101H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=15;refseq.start=146490279;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr1 146490283 . G A 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.344393;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.297C>T;refseq.codonCoord=99;refseq.end=146490283;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N99N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=11;refseq.start=146490283;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr1 146492387 . G A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.539001;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.69C>T;refseq.codonCoord=23;refseq.end=146492387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=86;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=146492387;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr1 146492457 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.583459;SecondBestBaseQ=33;refseq.chr=chr1;refseq.codingCoordStr=c.-2C>T;refseq.end=146492457;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=16;refseq.name=NM_015383;refseq.name2=NBPF14;refseq.positionType=utr5;refseq.spliceDist=16;refseq.start=146492457;refseq.transcriptStrand=-;set=soap GT 1/0 chr1 146846249 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.518207;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.195T>C;refseq.codingCoordStr_2=c.195T>C;refseq.codingCoordStr_3=c.195T>C;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.codonCoord_3=65;refseq.end_1=146846249;refseq.end_2=146846249;refseq.end_3=146846249;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=386;refseq.mrnaCoord_2=1357;refseq.mrnaCoord_3=827;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D65D;refseq.proteinCoordStr_2=p.D65D;refseq.proteinCoordStr_3=p.D65D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=146846249;refseq.start_2=146846249;refseq.start_3=146846249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=soap GT 1/0 chr1 146846260 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.512882;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.206T>C;refseq.codingCoordStr_2=c.206T>C;refseq.codingCoordStr_3=c.206T>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.codonCoord_3=69;refseq.end_1=146846260;refseq.end_2=146846260;refseq.end_3=146846260;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=1368;refseq.mrnaCoord_3=838;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F69S;refseq.proteinCoordStr_2=p.F69S;refseq.proteinCoordStr_3=p.F69S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=146846260;refseq.start_2=146846260;refseq.start_3=146846260;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=soap GT 1/0 chr1 146846296 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0112607;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.242A>T;refseq.codingCoordStr_2=c.242A>T;refseq.codingCoordStr_3=c.242A>T;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.codonCoord_3=81;refseq.end_1=146846296;refseq.end_2=146846296;refseq.end_3=146846296;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=433;refseq.mrnaCoord_2=1404;refseq.mrnaCoord_3=874;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K81M;refseq.proteinCoordStr_2=p.K81M;refseq.proteinCoordStr_3=p.K81M;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=146846296;refseq.start_2=146846296;refseq.start_3=146846296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=soap GT 0/1 chr1 146846330 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.192278;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.276C>T;refseq.codingCoordStr_2=c.276C>T;refseq.codingCoordStr_3=c.276C>T;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.codonCoord_3=92;refseq.end_1=146846330;refseq.end_2=146846330;refseq.end_3=146846330;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=1438;refseq.mrnaCoord_3=908;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L92L;refseq.proteinCoordStr_2=p.L92L;refseq.proteinCoordStr_3=p.L92L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.start_1=146846330;refseq.start_2=146846330;refseq.start_3=146846330;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=soap GT 0/1 chr1 146848427 . C T 177.41 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=2056;Dels=0.00;HRun=0;HaplotypeScore=243.12;MQ=1.63;MQ0=2047;QD=0.09;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.501C>T;refseq.codingCoordStr_2=c.501C>T;refseq.codingCoordStr_3=c.501C>T;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=167;refseq.end_1=146848427;refseq.end_2=146848427;refseq.end_3=146848427;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=1663;refseq.mrnaCoord_3=1133;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D167D;refseq.proteinCoordStr_2=p.D167D;refseq.proteinCoordStr_3=p.D167D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=146848427;refseq.start_2=146848427;refseq.start_3=146848427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1992,62:8:-23.43,-2.41,-7.94:55.29 chr1 146848430 rs4661824 C T 24.21 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=2189;Dels=0.00;HRun=0;HaplotypeScore=272.40;MQ=1.58;MQ0=2180;QD=0.01;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.504C>T;refseq.codingCoordStr_2=c.504C>T;refseq.codingCoordStr_3=c.504C>T;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.codonCoord_3=168;refseq.end_1=146848430;refseq.end_2=146848430;refseq.end_3=146848430;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=695;refseq.mrnaCoord_2=1666;refseq.mrnaCoord_3=1136;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N168N;refseq.proteinCoordStr_2=p.N168N;refseq.proteinCoordStr_3=p.N168N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=146848430;refseq.start_2=146848430;refseq.start_3=146848430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1711,477:8:-8.11,-2.41,-23.21:57.03 chr1 146848434 rs4950572 G C 38.02 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=2365;Dels=0.00;HRun=0;HaplotypeScore=277.81;MQ=1.52;MQ0=2356;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.508G>C;refseq.codingCoordStr_2=c.508G>C;refseq.codingCoordStr_3=c.508G>C;refseq.codonCoord_1=170;refseq.codonCoord_2=170;refseq.codonCoord_3=170;refseq.end_1=146848434;refseq.end_2=146848434;refseq.end_3=146848434;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=699;refseq.mrnaCoord_2=1670;refseq.mrnaCoord_3=1140;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D170H;refseq.proteinCoordStr_2=p.D170H;refseq.proteinCoordStr_3=p.D170H;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=146848434;refseq.start_2=146848434;refseq.start_3=146848434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1998,366:8:-9.49,-2.41,-30.55:70.86 chr1 146849049 . C G 10.99 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=637;Dels=0.00;HRun=0;HaplotypeScore=49.40;MQ=1.15;MQ0=636;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.659C>G;refseq.codingCoordStr_2=c.659C>G;refseq.codingCoordStr_3=c.659C>G;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.codonCoord_3=220;refseq.end_1=146849049;refseq.end_2=146849049;refseq.end_3=146849049;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=850;refseq.mrnaCoord_2=1821;refseq.mrnaCoord_3=1291;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S220C;refseq.proteinCoordStr_2=p.S220C;refseq.proteinCoordStr_3=p.S220C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.spliceDist_3=93;refseq.start_1=146849049;refseq.start_2=146849049;refseq.start_3=146849049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:615,22:1:-4.35,-0.30,-0.00:1.76 chr1 146857905 . A T 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1346A>T;refseq.codingCoordStr_2=c.1346A>T;refseq.codingCoordStr_3=c.1346A>T;refseq.codonCoord_1=449;refseq.codonCoord_2=449;refseq.codonCoord_3=449;refseq.end_1=146857905;refseq.end_2=146857905;refseq.end_3=146857905;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1537;refseq.mrnaCoord_2=2508;refseq.mrnaCoord_3=1978;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D449V;refseq.proteinCoordStr_2=p.D449V;refseq.proteinCoordStr_3=p.D449V;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.start_1=146857905;refseq.start_2=146857905;refseq.start_3=146857905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=FilteredInAll GT 1/1 chr1 146857914 . A G 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1355A>G;refseq.codingCoordStr_2=c.1355A>G;refseq.codingCoordStr_3=c.1355A>G;refseq.codonCoord_1=452;refseq.codonCoord_2=452;refseq.codonCoord_3=452;refseq.end_1=146857914;refseq.end_2=146857914;refseq.end_3=146857914;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1546;refseq.mrnaCoord_2=2517;refseq.mrnaCoord_3=1987;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E452G;refseq.proteinCoordStr_2=p.E452G;refseq.proteinCoordStr_3=p.E452G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.spliceDist_3=-84;refseq.start_1=146857914;refseq.start_2=146857914;refseq.start_3=146857914;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 1/1 chr1 146861030 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.574843;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1779C>T;refseq.codingCoordStr_2=c.1779C>T;refseq.codingCoordStr_3=c.1779C>T;refseq.codonCoord_1=593;refseq.codonCoord_2=593;refseq.codonCoord_3=593;refseq.end_1=146861030;refseq.end_2=146861030;refseq.end_3=146861030;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1970;refseq.mrnaCoord_2=2941;refseq.mrnaCoord_3=2411;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G593G;refseq.proteinCoordStr_2=p.G593G;refseq.proteinCoordStr_3=p.G593G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=146861030;refseq.start_2=146861030;refseq.start_3=146861030;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=soap GT 0/1 chr1 146861104 . A T 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.378790;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1853A>T;refseq.codingCoordStr_2=c.1853A>T;refseq.codingCoordStr_3=c.1853A>T;refseq.codonCoord_1=618;refseq.codonCoord_2=618;refseq.codonCoord_3=618;refseq.end_1=146861104;refseq.end_2=146861104;refseq.end_3=146861104;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2044;refseq.mrnaCoord_2=3015;refseq.mrnaCoord_3=2485;refseq.name2_1=NBPF16;refseq.name2_2=NBPF15;refseq.name2_3=NBPF15;refseq.name_1=NM_001102663;refseq.name_2=NM_001170755;refseq.name_3=NM_173638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y618F;refseq.proteinCoordStr_2=p.Y618F;refseq.proteinCoordStr_3=p.Y618F;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.spliceDist_3=84;refseq.start_1=146861104;refseq.start_2=146861104;refseq.start_3=146861104;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=soap GT 0/1 chr1 147010514 . C T 58.75 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=1849;Dels=0.00;HRun=0;HaplotypeScore=203.63;MQ=1.76;MQ0=1841;QD=0.03;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.501C>T;refseq.codonCoord=167;refseq.end=147010514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D167D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=147010514;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1797,51:8:-11.57,-2.41,-18.74:91.58 chr1 147010517 rs4661824 C T 145.86 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1991;Dels=0.00;HRun=0;HaplotypeScore=240.96;MQ=1.70;MQ0=1983;QD=0.07;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.504C>T;refseq.codonCoord=168;refseq.end=147010517;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.N168N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=11;refseq.start=147010517;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1542,448:8:-20.28,-2.41,-11.41:89.97 chr1 147010521 rs4950572 G C 180.42 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=2144;Dels=0.00;HRun=0;HaplotypeScore=229.11;MQ=1.63;MQ0=2136;QD=0.08;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.508G>C;refseq.codonCoord=170;refseq.end=147010521;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=699;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D170H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=15;refseq.start=147010521;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1774,368:8:-23.73,-2.41,-15.38:99 chr1 147023070 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=912;Dels=0.00;HRun=0;HaplotypeScore=261.52;MQ=13.53;MQ0=720;OQ=1332.00;QD=1.46;RankSumP=0.395552;SB=-581.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1775A>G;refseq.codonCoord=592;refseq.end=147023070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1966;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.N592S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=147023070;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chr1 147023072 . G A 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.495005;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1777G>A;refseq.codonCoord=593;refseq.end=147023072;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1968;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.G593S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=147023072;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 1/0 chr1 147023074 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=901;Dels=0.00;HRun=0;HaplotypeScore=263.37;MQ=13.57;MQ0=711;OQ=1361.36;QD=1.51;RankSumP=0.0766988;SB=-544.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1779C>T;refseq.codonCoord=593;refseq.end=147023074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1970;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.G593G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=147023074;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 0/1 chr1 147023123 . A G 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.414212;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1828A>G;refseq.codonCoord=610;refseq.end=147023123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R610G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=59;refseq.start=147023123;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 0/1 chr1 147023139 . A C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=410;Dels=0.00;HRun=1;HaplotypeScore=63.84;MQ=5.38;MQ0=393;OQ=369.20;QD=0.90;RankSumP=1.00000;SB=-112.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1844A>C;refseq.codonCoord=615;refseq.end=147023139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2035;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q615P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=75;refseq.start=147023139;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/1 chr1 147023142 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=451;Dels=0.00;HRun=1;HaplotypeScore=66.68;MQ=5.03;MQ0=435;OQ=215.74;QD=0.48;SB=2.02;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1847C>T;refseq.codonCoord=616;refseq.end=147023142;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2038;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S616L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=78;refseq.start=147023142;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:335,116:12:-28.47,-3.62,-19.47:99 chr1 147023148 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.565301;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1853A>T;refseq.codonCoord=618;refseq.end=147023148;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2044;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y618F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=84;refseq.start=147023148;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 0/1 chr1 147023207 . G C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=855;Dels=0.00;HRun=0;HaplotypeScore=10.95;MQ=4.89;MQ0=845;QD=0.06;RankSumP=0.737429;SB=-0.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1912G>C;refseq.codonCoord=638;refseq.end=147023207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2103;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.E638Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=143;refseq.start=147023207;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 0/1 chr1 147023212 . T C 32.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=882;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=4.74;MQ0=873;QD=0.04;RankSumP=0.670707;SB=-0.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1917T>C;refseq.codonCoord=639;refseq.end=147023212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2108;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H639H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=148;refseq.start=147023212;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr1 147023228 . T G 42.29 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=743;Dels=0.00;HRun=0;HaplotypeScore=10.24;MQ=3.24;MQ0=738;QD=0.06;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1933T>G;refseq.codonCoord=645;refseq.end=147023228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2124;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y645D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=164;refseq.start=147023228;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:741,2:4:-8.72,-1.21,-6.18:49.72 chr1 147023231 . G T 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1936G>T;refseq.codonCoord=646;refseq.end=147023231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2127;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V646L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=167;refseq.start=147023231;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/1 chr1 147023272 rs1043762 C T 46.48 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=484;Dels=0.00;HRun=0;HaplotypeScore=25.77;MQ=3.00;MQ0=481;QD=0.10;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1977C>T;refseq.codonCoord=659;refseq.end=147023272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2168;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H659H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=208;refseq.start=147023272;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:429,54:3:-8.83,-0.90,-3.70:27.93 chr1 147023278 rs3863780 G C 10.47 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=3.11;MQ0=446;QD=0.02;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1983G>C;refseq.codonCoord=661;refseq.end=147023278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2174;refseq.name=NM_001102663;refseq.name2=NBPF16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V661V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=214;refseq.start=147023278;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:447,2:3:-5.19,-0.90,-8.39:42.89 chr1 148028241 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.567T>A;refseq.codonCoord_2=189;refseq.end_1=148050115;refseq.end_2=148028241;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=617;refseq.name2_1=HIST2H2BF;refseq.name2_2=FCGR1A;refseq.name_1=NM_001161334;refseq.name_2=NM_000566;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F189L;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTT;refseq.spliceDist_2=8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=148021451;refseq.start_2=148028241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTA;set=FilteredInAll GT 1/0 chr1 148138529 . G C 110.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.75;MQ0=0;OQ=499.01;QD=13.13;RankSumP=0.161101;SB=-158.74;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.293G>C;refseq.codonCoord=98;refseq.end=148138529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_016074;refseq.name2=BOLA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G98A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=343;refseq.start=148138529;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 148165198 . G A 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.271680;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.400C>T;refseq.codonCoord=134;refseq.end=148165198;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_005850;refseq.name2=SF3B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R134W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=237;refseq.start=148165198;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 1/0 chr1 148165205 . T C 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.477564;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.393A>G;refseq.codonCoord=131;refseq.end=148165205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_005850;refseq.name2=SF3B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K131K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=230;refseq.start=148165205;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 1/0 chr1 148173814 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.325+2;refseq.codingCoordStr_2=c.109+2;refseq.end_1=148173814;refseq.end_2=148173814;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MTMR11;refseq.name2_2=MTMR11;refseq.name_1=NM_001145862;refseq.name_2=NM_181873;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=148173814;refseq.start_2=148173814;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr1 148465747 . G T 291.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.34;MQ0=0;OQ=1868.68;QD=16.83;RankSumP=0.218722;SB=-859.40;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.375C>A;refseq.codingCoordStr_2=c.354C>A;refseq.codingCoordStr_3=c.498C>A;refseq.codonCoord_1=125;refseq.codonCoord_2=118;refseq.codonCoord_3=166;refseq.end_1=148465747;refseq.end_2=148465747;refseq.end_3=148465747;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=745;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=868;refseq.name2_1=ANP32E;refseq.name2_2=ANP32E;refseq.name2_3=ANP32E;refseq.name_1=NM_001136478;refseq.name_2=NM_001136479;refseq.name_3=NM_030920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G125G;refseq.proteinCoordStr_2=p.G118G;refseq.proteinCoordStr_3=p.G166G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.start_1=148465747;refseq.start_2=148465747;refseq.start_3=148465747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 0/1 chr1 148749979 . C T 234.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.15;MQ0=0;OQ=2168.31;QD=15.27;RankSumP=0.0429402;SB=-814.87;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.389C>T;refseq.codingCoordStr_2=c.389C>T;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.end_1=148749979;refseq.end_2=148749979;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=588;refseq.mrnaCoord_2=588;refseq.name2_1=ECM1;refseq.name2_2=ECM1;refseq.name_1=NM_004425;refseq.name_2=NM_022664;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T130M;refseq.proteinCoordStr_2=p.T130M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=148749979;refseq.start_2=148749979;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr1 148750670 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.822T>C;refseq.codonCoord_2=274;refseq.end_1=148751441;refseq.end_2=148750670;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1021;refseq.name2_1=ECM1;refseq.name2_2=ECM1;refseq.name_1=NM_022664;refseq.name_2=NM_004425;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A274A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=114;refseq.start_1=148750309;refseq.start_2=148750670;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr1 148751611 . G A 327.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=10.36;MQ=98.82;MQ0=0;OQ=7187.83;QD=21.52;RankSumP=0.495255;SB=-2731.83;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1243G>A;refseq.codingCoordStr_2=c.868G>A;refseq.codonCoord_1=415;refseq.codonCoord_2=290;refseq.end_1=148751611;refseq.end_2=148751611;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1067;refseq.name2_1=ECM1;refseq.name2_2=ECM1;refseq.name_1=NM_004425;refseq.name_2=NM_022664;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G415S;refseq.proteinCoordStr_2=p.G290S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=148751611;refseq.start_2=148751611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr1 148791410 . T G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.319444;SecondBestBaseQ=14;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.20+2;refseq.codingCoordStr_2=c.20+2;refseq.end_1=148791410;refseq.end_2=148791410;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=148791410;refseq.start_2=148791410;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=soap GT 1/0 chr1 148792668 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.68;MQ0=0;OQ=4587.99;QD=23.29;RankSumP=0.288593;SB=-1863.55;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.577G>C;refseq.codingCoordStr_2=c.577G>C;refseq.codonCoord_1=193;refseq.codonCoord_2=193;refseq.end_1=148792668;refseq.end_2=148792668;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=813;refseq.mrnaCoord_2=813;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A193P;refseq.proteinCoordStr_2=p.A193P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=143;refseq.spliceDist_2=143;refseq.start_1=148792668;refseq.start_2=148792668;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr1 148793030 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=379.13;QD=23.70;RankSumP=0.665118;SB=-77.06;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.939C>T;refseq.codingCoordStr_2=c.939C>T;refseq.codonCoord_1=313;refseq.codonCoord_2=313;refseq.end_1=148793030;refseq.end_2=148793030;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1175;refseq.mrnaCoord_2=1175;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G313G;refseq.proteinCoordStr_2=p.G313G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-193;refseq.spliceDist_2=-193;refseq.start_1=148793030;refseq.start_2=148793030;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr1 148797632 . T C 221.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=96.85;MQ0=0;OQ=3090.84;QD=30.91;RankSumP=1.00000;SB=-1161.59;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2442T>C;refseq.codingCoordStr_2=c.2442T>C;refseq.codonCoord_1=814;refseq.codonCoord_2=814;refseq.end_1=148797632;refseq.end_2=148797632;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2678;refseq.mrnaCoord_2=2678;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N814N;refseq.proteinCoordStr_2=p.N814N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=148797632;refseq.start_2=148797632;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr1 148797674 . G A 349.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=95.67;MQ0=0;OQ=5575.29;QD=37.67;RankSumP=1.00000;SB=-2422.23;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2484G>A;refseq.codingCoordStr_2=c.2484G>A;refseq.codonCoord_1=828;refseq.codonCoord_2=828;refseq.end_1=148797674;refseq.end_2=148797674;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2720;refseq.mrnaCoord_2=2720;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P828P;refseq.proteinCoordStr_2=p.P828P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-76;refseq.spliceDist_2=102;refseq.start_1=148797674;refseq.start_2=148797674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr1 148797761 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=101;Dels=0.00;HRun=5;HaplotypeScore=24.47;MQ=95.28;MQ0=0;OQ=58.62;QD=0.58;RankSumP=0.00000;SB=125.43;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2571A>C;refseq.codonCoord_2=857;refseq.end_1=148798051;refseq.end_2=148797761;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2807;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E857D;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-87;refseq.start_1=148797760;refseq.start_2=148797761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr1 148797794 . C T 190.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=96.11;MQ0=0;OQ=3412.43;QD=42.66;RankSumP=1.00000;SB=-939.21;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2604C>T;refseq.codonCoord_2=868;refseq.end_1=148798051;refseq.end_2=148797794;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2840;refseq.name2_1=ADAMTSL4;refseq.name2_2=ADAMTSL4;refseq.name_1=NM_019032;refseq.name_2=NM_025008;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H868H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-54;refseq.start_1=148797760;refseq.start_2=148797794;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr1 148799000 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.01;MQ0=0;OQ=1225.68;QD=13.47;RankSumP=0.0209327;SB=-586.34;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3083G>A;refseq.codonCoord=1028;refseq.end=148799000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3319;refseq.name=NM_019032;refseq.name2=ADAMTSL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1028H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=148799000;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 148945657 . G A 140.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.96;MQ0=0;OQ=2861.98;QD=13.25;RankSumP=0.201666;SB=-1105.41;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.800C>T;refseq.codonCoord=267;refseq.end=148945657;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_032132;refseq.name2=HORMAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T267I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=148945657;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 148994163 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=836;Dels=0.00;HRun=1;HaplotypeScore=32.86;MQ=98.85;MQ0=0;OQ=17919.78;QD=21.44;RankSumP=0.279379;SB=-6858.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.337C>T;refseq.codonCoord=113;refseq.end=148994163;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_004079;refseq.name2=CTSS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R113W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-63;refseq.start=148994163;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 149038327 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=487;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=98.83;MQ0=0;OQ=19052.72;QD=39.12;RankSumP=1.00000;SB=-9385.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.831A>G;refseq.codonCoord=277;refseq.end=149038327;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_000396;refseq.name2=CTSK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=47;refseq.start=149038327;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 149052311 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.2241A>C;refseq.codingCoordStr_3=c.2196A>C;refseq.codonCoord_2=747;refseq.codonCoord_3=732;refseq.end_1=149069043;refseq.end_2=149052311;refseq.end_3=149052311;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2384;refseq.mrnaCoord_3=2339;refseq.name2_1=ARNT;refseq.name2_2=ARNT;refseq.name2_3=ARNT;refseq.name_1=NM_178426;refseq.name_2=NM_001668;refseq.name_3=NM_178427;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q747H;refseq.proteinCoordStr_3=p.Q732H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=149052297;refseq.start_2=149052311;refseq.start_3=149052311;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT 1/0 chr1 149052359 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=3;RankSumP=9.33456e-08;SecondBestBaseQ=4;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.2193C>G;refseq.codingCoordStr_3=c.2148C>G;refseq.codonCoord_2=731;refseq.codonCoord_3=716;refseq.end_1=149069043;refseq.end_2=149052359;refseq.end_3=149052359;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2336;refseq.mrnaCoord_3=2291;refseq.name2_1=ARNT;refseq.name2_2=ARNT;refseq.name2_3=ARNT;refseq.name_1=NM_178426;refseq.name_2=NM_001668;refseq.name_3=NM_178427;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G731G;refseq.proteinCoordStr_3=p.G716G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=149052297;refseq.start_2=149052359;refseq.start_3=149052359;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr1 149075513 . C G 107.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=14.11;MQ=98.90;MQ0=0;OQ=2686.92;QD=12.98;RankSumP=0.292052;SB=-869.63;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.567G>C;refseq.codingCoordStr_2=c.567G>C;refseq.codingCoordStr_3=c.522G>C;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.codonCoord_3=174;refseq.end_1=149075513;refseq.end_2=149075513;refseq.end_3=149075513;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=710;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=665;refseq.name2_1=ARNT;refseq.name2_2=ARNT;refseq.name2_3=ARNT;refseq.name_1=NM_001668;refseq.name_2=NM_178426;refseq.name_3=NM_178427;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V189V;refseq.proteinCoordStr_2=p.V189V;refseq.proteinCoordStr_3=p.V174V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.start_1=149075513;refseq.start_2=149075513;refseq.start_3=149075513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr1 149184050 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.982T>C;refseq.codingCoordStr_3=c.982T>C;refseq.codonCoord_2=328;refseq.codonCoord_3=328;refseq.end_1=149184050;refseq.end_2=149184050;refseq.end_3=149184050;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1108;refseq.mrnaCoord_2=1172;refseq.mrnaCoord_3=1172;refseq.name2_1=SETDB1;refseq.name2_2=SETDB1;refseq.name2_3=SETDB1;refseq.name_1=NR_026977;refseq.name_2=NM_001145415;refseq.name_3=NM_012432;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S328P;refseq.proteinCoordStr_3=p.S328P;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=149184050;refseq.start_2=149184050;refseq.start_3=149184050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr1 149189927 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1950T>G;refseq.codingCoordStr_2=c.1950T>G;refseq.codonCoord_1=650;refseq.codonCoord_2=650;refseq.end_1=149189927;refseq.end_2=149189927;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2140;refseq.mrnaCoord_2=2140;refseq.name2_1=SETDB1;refseq.name2_2=SETDB1;refseq.name_1=NM_001145415;refseq.name_2=NM_012432;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C650W;refseq.proteinCoordStr_2=p.C650W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-264;refseq.spliceDist_2=-264;refseq.start_1=149189927;refseq.start_2=149189927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr1 149226974 . A C 132.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=5.49;MQ=98.87;MQ0=0;OQ=4221.46;QD=14.97;RankSumP=0.149061;SB=-494.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.615A>C;refseq.codonCoord=205;refseq.end=149226974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_003568;refseq.name2=ANXA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A205A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=149226974;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 149237201 . G T 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.36;MQ0=0;OQ=5943.10;QD=37.38;RankSumP=1.00000;SB=-2290.54;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.728C>A;refseq.codingCoordStr_2=c.1298C>A;refseq.codingCoordStr_3=c.869C>A;refseq.codingCoordStr_4=c.728C>A;refseq.codingCoordStr_5=c.1154C>A;refseq.codonCoord_1=243;refseq.codonCoord_2=433;refseq.codonCoord_3=290;refseq.codonCoord_4=243;refseq.codonCoord_5=385;refseq.end_1=149237201;refseq.end_2=149237201;refseq.end_3=149237201;refseq.end_4=149237201;refseq.end_5=149237201;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1458;refseq.mrnaCoord_2=1521;refseq.mrnaCoord_3=1423;refseq.mrnaCoord_4=1334;refseq.mrnaCoord_5=2122;refseq.name2_1=FAM63A;refseq.name2_2=FAM63A;refseq.name2_3=FAM63A;refseq.name2_4=FAM63A;refseq.name2_5=FAM63A;refseq.name_1=NM_001040217;refseq.name_2=NM_001163258;refseq.name_3=NM_001163259;refseq.name_4=NM_001163260;refseq.name_5=NM_018379;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T243K;refseq.proteinCoordStr_2=p.T433K;refseq.proteinCoordStr_3=p.T290K;refseq.proteinCoordStr_4=p.T243K;refseq.proteinCoordStr_5=p.T385K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.spliceDist_5=-20;refseq.start_1=149237201;refseq.start_2=149237201;refseq.start_3=149237201;refseq.start_4=149237201;refseq.start_5=149237201;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;refseq.variantCodon_5=AAG;set=Intersection GT 1/1 chr1 149273163 . C A 349.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.39;MQ0=0;OQ=2123.91;QD=36.00;RankSumP=1.00000;SB=-1060.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1191C>A;refseq.codonCoord=397;refseq.end=149273163;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_021222;refseq.name2=PRUNE;refseq.positionType=CDS;refseq.proteinCoordStr=p.G397G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=258;refseq.start=149273163;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 149337025 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.545C>G;refseq.codonCoord=182;refseq.end=149337025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_144618;refseq.name2=GABPB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A182G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=74;refseq.start=149337025;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 149372448 . C G 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=98.09;MQ0=0;OQ=389.42;QD=20.50;RankSumP=0.0345479;SB=-186.83;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1929G>C;refseq.codonCoord=643;refseq.end=149372448;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2229;refseq.name=NM_030913;refseq.name2=SEMA6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P643P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=170;refseq.start=149372448;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 149374761 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=4;HaplotypeScore=3.06;MQ=98.83;MQ0=0;OQ=1199.68;QD=12.12;RankSumP=0.391423;SB=-373.01;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1363A>C;refseq.codonCoord=455;refseq.end=149374761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1663;refseq.name=NM_030913;refseq.name2=SEMA6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T455P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-71;refseq.start=149374761;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 149374825 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1299T>G;refseq.codonCoord=433;refseq.end=149374825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1599;refseq.name=NM_030913;refseq.name2=SEMA6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G433G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=40;refseq.start=149374825;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 149377456 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=194;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.70;MQ0=0;OQ=2992.46;QD=15.43;RankSumP=0.448662;SB=-1442.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.507C>T;refseq.codonCoord=169;refseq.end=149377456;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_030913;refseq.name2=SEMA6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C169C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-41;refseq.start=149377456;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 149398088 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.291T>G;refseq.codonCoord=97;refseq.end=149398088;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_024575;refseq.name2=TNFAIP8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G97G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=323;refseq.start=149398088;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 149475687 . C T 258.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=84.81;MQ0=19;OQ=4594.51;QD=35.89;RankSumP=1.00000;SB=-1906.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.933C>T;refseq.codingCoordStr_2=c.930C>T;refseq.codingCoordStr_3=c.969C>T;refseq.codingCoordStr_4=c.930C>T;refseq.codonCoord_1=311;refseq.codonCoord_2=310;refseq.codonCoord_3=323;refseq.codonCoord_4=310;refseq.end_1=149475687;refseq.end_2=149475687;refseq.end_3=149475687;refseq.end_4=149475687;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1385;refseq.mrnaCoord_2=1382;refseq.mrnaCoord_3=1421;refseq.mrnaCoord_4=1382;refseq.name2_1=PIP5K1A;refseq.name2_2=PIP5K1A;refseq.name2_3=PIP5K1A;refseq.name2_4=PIP5K1A;refseq.name_1=NM_001135636;refseq.name_2=NM_001135637;refseq.name_3=NM_001135638;refseq.name_4=NM_003557;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y311Y;refseq.proteinCoordStr_2=p.Y310Y;refseq.proteinCoordStr_3=p.Y323Y;refseq.proteinCoordStr_4=p.Y310Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.start_1=149475687;refseq.start_2=149475687;refseq.start_3=149475687;refseq.start_4=149475687;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 1/1 chr1 149505144 . A G 20 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.87444e-06;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.695A>G;refseq.codonCoord=232;refseq.end=149505144;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_002810;refseq.name2=PSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E232G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=41;refseq.start=149505144;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 149505675 . T C 114.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=1.44;MQ=98.81;MQ0=0;OQ=3891.62;QD=34.14;RankSumP=1.00000;SB=-1484.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.951T>C;refseq.codonCoord=317;refseq.end=149505675;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_002810;refseq.name2=PSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S317S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-13;refseq.start=149505675;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 149530021 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=9.80065e-08;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3426G>T;refseq.codonCoord=1142;refseq.end=149530021;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3524;refseq.name=NM_020832;refseq.name2=ZNF687;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1142F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=207;refseq.start=149530021;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr1 149554796 . G A 394.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=98.91;MQ0=0;OQ=6648.53;QD=37.99;RankSumP=1.00000;SB=-1510.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.822C>T;refseq.codonCoord=274;refseq.end=149554796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_002651;refseq.name2=PI4KB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D274D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-124;refseq.start=149554796;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 149555015 . A G 291.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=98.77;MQ0=0;OQ=8955.53;QD=36.26;RankSumP=1.00000;SB=-3584.02;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.603T>C;refseq.codonCoord=201;refseq.end=149555015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_002651;refseq.name2=PI4KB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D201D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-343;refseq.start=149555015;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 149582785 . G A 168.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=1605.19;QD=39.15;RankSumP=1.00000;SB=-524.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.753C>T;refseq.codingCoordStr_2=c.753C>T;refseq.codonCoord_1=251;refseq.codonCoord_2=251;refseq.end_1=149582785;refseq.end_2=149582785;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=974;refseq.mrnaCoord_2=967;refseq.name2_1=RFX5;refseq.name2_2=RFX5;refseq.name_1=NM_000449;refseq.name_2=NM_001025603;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L251L;refseq.proteinCoordStr_2=p.L251L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=149582785;refseq.start_2=149582785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr1 149604327 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=97;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=99.00;MQ0=0;OQ=2195.15;QD=22.63;RankSumP=0.443955;SB=-914.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1099G>A;refseq.codonCoord=367;refseq.end=149604327;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_003944;refseq.name2=SELENBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E367K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-39;refseq.start=149604327;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr1 149607368 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.412A>C;refseq.codonCoord=138;refseq.end=149607368;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_003944;refseq.name2=SELENBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T138P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=52;refseq.start=149607368;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 149638762 . G A 276.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=8.20;MQ=97.66;MQ0=0;OQ=6260.94;QD=37.27;RankSumP=1.00000;SB=-2946.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.75G>A;refseq.codonCoord=25;refseq.end=149638762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_002796;refseq.name2=PSMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-66;refseq.start=149638762;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 149644538 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3597C>A;refseq.codingCoordStr_2=c.3438C>A;refseq.codonCoord_1=1199;refseq.codonCoord_2=1146;refseq.end_1=149644538;refseq.end_2=149644538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3903;refseq.mrnaCoord_2=3744;refseq.name2_1=POGZ;refseq.name2_2=POGZ;refseq.name_1=NM_015100;refseq.name_2=NM_207171;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1199*;refseq.proteinCoordStr_2=p.Y1146*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=1027;refseq.spliceDist_2=1027;refseq.start_1=149644538;refseq.start_2=149644538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr1 149645538 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.169963;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2597A>G;refseq.codingCoordStr_2=c.2438A>G;refseq.codonCoord_1=866;refseq.codonCoord_2=813;refseq.end_1=149645538;refseq.end_2=149645538;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2903;refseq.mrnaCoord_2=2744;refseq.name2_1=POGZ;refseq.name2_2=POGZ;refseq.name_1=NM_015100;refseq.name_2=NM_207171;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H866R;refseq.proteinCoordStr_2=p.H813R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=149645538;refseq.start_2=149645538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT 1/0 chr1 149759737 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1086T>G;refseq.codonCoord=362;refseq.end=149759737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_020770;refseq.name2=CGN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G362G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=42;refseq.start=149759737;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 150086922 . G C 355.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.72;MQ0=0;OQ=8618.21;QD=45.12;RankSumP=1.00000;SB=-2476.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.616C>G;refseq.codonCoord=206;refseq.end=150086922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_182578;refseq.name2=THEM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=41;refseq.start=150086922;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 150086948 . T C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.75;MQ0=0;OQ=9123.03;QD=40.37;RankSumP=1.00000;SB=-3990.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.590A>G;refseq.codonCoord=197;refseq.end=150086948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_182578;refseq.name2=THEM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D197G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=15;refseq.start=150086948;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 150087378 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.0326771;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.479G>T;refseq.codonCoord=160;refseq.end=150087378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_182578;refseq.name2=THEM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G160V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=15;refseq.start=150087378;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr1 150092615 . G T 234.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.98;MQ0=0;OQ=4064.53;QD=32.26;RankSumP=1.00000;SB=-1681.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.51C>A;refseq.codonCoord=17;refseq.end=150092615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_182578;refseq.name2=THEM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G17G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-73;refseq.start=150092615;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 150134184 . G A 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=16.43;MQ=70.42;MQ0=92;OQ=8598.10;QD=28.28;RankSumP=1.00000;SB=-3298.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.210C>T;refseq.codonCoord=70;refseq.end=150134184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_053055;refseq.name2=THEM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D70D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-77;refseq.start=150134184;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 150324101 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2681T>G;refseq.codonCoord=894;refseq.end=150324101;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2746;refseq.name=NM_001008536;refseq.name2=TCHHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V894G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-858;refseq.start=150324101;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr1 150325670 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1112A>C;refseq.codonCoord=371;refseq.end=150325670;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1177;refseq.name=NM_001008536;refseq.name2=TCHHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D371A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=974;refseq.start=150325670;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 150346613 . T G 310.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=98.87;MQ0=0;OQ=5833.16;QD=20.83;RankSumP=0.480328;SB=-1419.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5704A>C;refseq.codonCoord=1902;refseq.end=150346613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5704;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1902Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-1197;refseq.start=150346613;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 150346951 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5366G>C;refseq.codonCoord=1789;refseq.end=150346951;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5366;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1789P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1535;refseq.start=150346951;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 150348545 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=3.27;MQ=98.86;MQ0=0;OQ=6046.41;QD=25.84;RankSumP=0.444528;SB=-1847.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3772C>G;refseq.codonCoord=1258;refseq.end=150348545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3772;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1258V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-3129;refseq.start=150348545;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 150349949 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=90.83;MQ0=0;OQ=184.61;QD=5.96;RankSumP=0.265884;SB=-42.96;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2368T>A;refseq.codonCoord=790;refseq.end=150349949;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2368;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L790M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=2230;refseq.start=150349949;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 150349996 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=3.71011e-08;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2321A>G;refseq.codonCoord=774;refseq.end=150349996;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2321;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.E774G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2183;refseq.start=150349996;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 150349999 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500035;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2318C>G;refseq.codonCoord=773;refseq.end=150349999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2318;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A773G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2180;refseq.start=150349999;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr1 150350663 . G T 343.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=98.55;MQ0=0;OQ=4487.38;QD=17.06;RankSumP=0.364743;SB=-1882.78;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1654C>A;refseq.codonCoord=552;refseq.end=150350663;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R552S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=1516;refseq.start=150350663;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 150352129 . A C 255.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=98.81;MQ0=0;OQ=5843.39;QD=38.19;RankSumP=1.00000;SB=-2678.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.188T>G;refseq.codonCoord=63;refseq.end=150352129;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_007113;refseq.name2=TCHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L63R;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=50;refseq.start=150352129;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr1 150394745 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2376;Dels=0.00;HRun=2;HaplotypeScore=67.91;MQ=96.50;MQ0=0;OQ=46929.39;QD=19.75;RankSumP=0.159516;SB=-18097.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1454C>T;refseq.codonCoord=485;refseq.end=150394745;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_001122965;refseq.name2=RPTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S485F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1316;refseq.start=150394745;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap-filterIngatk GT 1/0 chr1 150452374 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=10.46;MQ=94.38;MQ0=0;OQ=9774.96;QD=26.21;RankSumP=0.178408;SB=-4049.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8355C>T;refseq.codonCoord=2785;refseq.end=150452374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8431;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2785Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1193;refseq.start=150452374;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr1 150452386 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=93.15;MQ0=0;OQ=3139.13;QD=9.54;RankSumP=0.413260;SB=-1222.74;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8343G>C;refseq.codonCoord=2781;refseq.end=150452386;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8419;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2781H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1205;refseq.start=150452386;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 150452392 . T G 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=315;Dels=0.00;HRun=1;HaplotypeScore=11.42;MQ=92.66;MQ0=0;OQ=1517.25;QD=4.82;RankSumP=0.478717;SB=-337.54;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8337A>C;refseq.codonCoord=2779;refseq.end=150452392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8413;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2779S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-1211;refseq.start=150452392;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr1 150452398 rs61814932 A G 0.42 PASS AC=1;AF=0.50;AN=2;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=13.10;MQ=91.84;MQ0=0;OQ=449.81;QD=1.45;SB=-4.79;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8331T>C;refseq.codonCoord=2777;refseq.end=150452398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8407;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2777S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-1217;refseq.start=150452398;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=gatk GT:AD:DP:GL:GQ 0/1:260,50:280:-132.60,-84.33,-1038.67:99 chr1 150452723 . C T 9 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=764;Dels=0.00;HRun=0;HaplotypeScore=138.70;MQ=9.80;MQ0=666;OQ=3167.19;QD=4.15;RankSumP=1.00000;SB=-318.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8006G>A;refseq.codonCoord=2669;refseq.end=150452723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8082;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2669D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1542;refseq.start=150452723;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/1 chr1 150452744 . A G 35.93 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=954;Dels=0.00;HRun=0;HaplotypeScore=73.48;MQ=4.46;MQ0=929;QD=0.04;SB=11.07;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7985T>C;refseq.codonCoord=2662;refseq.end=150452744;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8061;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2662S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-1563;refseq.start=150452744;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:771,155:10:-9.89,-3.01,-28.19:68.76 chr1 150452768 . C T 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7961G>A;refseq.codonCoord=2654;refseq.end=150452768;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8037;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2654N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1587;refseq.start=150452768;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/1 chr1 150452820 . G A 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=30;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7909C>T;refseq.codonCoord=2637;refseq.end=150452820;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7985;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2637C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-1639;refseq.start=150452820;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/1 chr1 150452846 . T C 26.72 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=1038;Dels=0.00;HRun=0;HaplotypeScore=77.69;MQ=7.96;MQ0=974;QD=0.03;RankSumP=1.00000;SB=20.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7883A>G;refseq.codonCoord=2628;refseq.end=150452846;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7959;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2628R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1665;refseq.start=150452846;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/1 chr1 150453076 . G A 44.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=1901;Dels=0.00;HRun=0;HaplotypeScore=213.19;MQ=0.83;MQ0=1899;QD=0.02;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7653C>T;refseq.codonCoord=2551;refseq.end=150453076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7729;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2551Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1895;refseq.start=150453076;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1726,173:2:-7.81,-0.60,-0.00:6.02 chr1 150453215 . C G 19.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=5014;Dels=0.00;HRun=1;HaplotypeScore=119.01;MQ=0.35;MQ0=5013;QD=0.00;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7514G>C;refseq.codonCoord=2505;refseq.end=150453215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7590;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2505T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-2034;refseq.start=150453215;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:4998,10:1:-5.19,-0.30,-0.00:1.76 chr1 150453323 . T A 12 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=28;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7406A>T;refseq.codonCoord=2469;refseq.end=150453323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7482;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2469L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-2142;refseq.start=150453323;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr1 150453390 . G A 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=4335;Dels=0.00;HRun=0;HaplotypeScore=125.48;MQ=8.73;MQ0=3590;OQ=8990.43;QD=2.07;RankSumP=1.00000;SB=-3295.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7339C>T;refseq.codonCoord=2447;refseq.end=150453390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7415;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2447C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-2209;refseq.start=150453390;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap-filterIngatk GT 1/1 chr1 150453921 rs12116427 T A -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=5525;Dels=0.00;HRun=0;HaplotypeScore=205.78;MQ=1.16;MQ0=5519;OQ=152.36;QD=0.03;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6808A>T;refseq.codonCoord=2270;refseq.end=150453921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6884;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2270S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-2740;refseq.start=150453921;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:5427,70:5:-18.80,-1.51,-0.00:15.05 chr1 150454178 . C T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1401;Dels=0.00;HRun=1;HaplotypeScore=129.42;MQ=15.31;MQ0=888;OQ=649.91;QD=0.46;SB=-76.43;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6551G>A;refseq.codonCoord=2184;refseq.end=150454178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6627;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2184N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-2997;refseq.start=150454178;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1092,270:178:-121.88,-53.61,-589.06:99 chr1 150454186 . A C 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=1371;Dels=0.00;HRun=0;HaplotypeScore=143.51;MQ=14.17;MQ0=1019;OQ=2996.80;QD=2.19;RankSumP=1.00000;SB=-1062.39;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6543T>G;refseq.codonCoord=2181;refseq.end=150454186;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6619;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2181Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-3005;refseq.start=150454186;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 1/1 chr1 150454212 . C T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2951;Dels=0.00;HRun=0;HaplotypeScore=440.48;MQ=18.46;MQ0=1260;OQ=1264.00;QD=0.43;SB=-350.49;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6517G>A;refseq.codonCoord=2173;refseq.end=150454212;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6593;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2173S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-3031;refseq.start=150454212;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2653,282:1055:-447.48,-317.80,-3503.03:99 chr1 150454213 . G A 23 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=3016;Dels=0.00;HRun=0;HaplotypeScore=433.85;MQ=18.56;MQ0=1251;OQ=6871.21;QD=2.28;RankSumP=0.000205513;SB=-814.14;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6516C>T;refseq.codonCoord=2172;refseq.end=150454213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6592;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2172H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-3032;refseq.start=150454213;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr1 150454230 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=4381;Dels=0.00;HRun=0;HaplotypeScore=203.08;MQ=20.43;MQ0=1159;OQ=93.45;QD=0.02;SB=-8.30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6499C>T;refseq.codonCoord=2167;refseq.end=150454230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6575;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2167C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-3049;refseq.start=150454230;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:4073,302:2526:-773.44,-760.81,-8982.21:99 chr1 150454252 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=6241;Dels=0.00;HRun=0;HaplotypeScore=203.80;MQ=20.52;MQ0=1437;OQ=20080.46;QD=3.22;RankSumP=0.00436852;SB=-3907.89;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6477T>C;refseq.codonCoord=2159;refseq.end=150454252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6553;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2159Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-3071;refseq.start=150454252;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 0/1 chr1 150454434 . G A 16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DP=411;Dels=0.00;HRun=0;HaplotypeScore=19.68;MQ=6.38;MQ0=349;OQ=841.19;QD=2.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6295C>T;refseq.codonCoord=2099;refseq.end=150454434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6371;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2099S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-3253;refseq.start=150454434;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=filterInsoap-gatk GT 1/1 chr1 150454559 . C T 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=1703;Dels=0.00;HRun=1;HaplotypeScore=48.58;MQ=6.78;MQ0=1643;QD=0.01;RankSumP=1.00000;SB=14.07;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6170G>A;refseq.codonCoord=2057;refseq.end=150454559;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6246;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2057Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-3378;refseq.start=150454559;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 1/1 chr1 150454569 . C T 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=2127;Dels=0.00;HRun=0;HaplotypeScore=84.69;MQ=4.85;MQ0=2074;QD=0.01;RankSumP=1.00000;SB=11.06;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6160G>A;refseq.codonCoord=2054;refseq.end=150454569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6236;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2054S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-3388;refseq.start=150454569;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 1/1 chr1 150454686 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=4464;Dels=0.00;HRun=0;HaplotypeScore=86.08;MQ=17.96;MQ0=2031;OQ=20092.83;QD=4.50;RankSumP=0.200621;SB=-5216.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6043A>G;refseq.codonCoord=2015;refseq.end=150454686;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6119;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2015A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-3505;refseq.start=150454686;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr1 150454733 . T A 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=5107;Dels=0.00;HRun=0;HaplotypeScore=354.27;MQ=7.79;MQ0=4701;OQ=11751.74;QD=2.30;RankSumP=1.00000;SB=-172.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5996A>T;refseq.codonCoord=1999;refseq.end=150454733;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6072;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1999L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-3552;refseq.start=150454733;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/1 chr1 150454800 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.220588;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5929C>T;refseq.codonCoord=1977;refseq.end=150454800;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6005;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1977C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-3619;refseq.start=150454800;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr1 150454836 . C T 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=3.98529e-05;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5893G>A;refseq.codonCoord=1965;refseq.end=150454836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5969;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1965S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-3655;refseq.start=150454836;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr1 150455037 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=5849;Dels=0.00;HRun=2;HaplotypeScore=120.40;MQ=15.44;MQ0=3461;OQ=10212.14;QD=1.75;RankSumP=0.538744;SB=-1990.65;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5692G>A;refseq.codonCoord=1898;refseq.end=150455037;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5768;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1898K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-3856;refseq.start=150455037;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 0/1 chr1 150455087 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=4982;Dels=0.00;HRun=1;HaplotypeScore=103.75;MQ=19.01;MQ0=2090;OQ=12669.05;QD=2.54;RankSumP=0.227932;SB=-2098.40;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5642C>T;refseq.codonCoord=1881;refseq.end=150455087;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5718;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1881F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-3906;refseq.start=150455087;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap-filterIngatk GT 1/0 chr1 150455486 . G A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5243C>T;refseq.codonCoord=1748;refseq.end=150455486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5319;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1748L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-4305;refseq.start=150455486;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap GT 1/0 chr1 150455544 . C T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1683;Dels=0.00;HRun=0;HaplotypeScore=177.45;MQ=2.30;MQ0=1679;OQ=78.79;QD=0.05;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5185G>A;refseq.codonCoord=1729;refseq.end=150455544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5261;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1729S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-4363;refseq.start=150455544;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1387,288:4:-12.37,-1.20,-4.27:30.64 chr1 150455564 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1542;Dels=0.00;HRun=0;HaplotypeScore=92.89;MQ=2.89;MQ0=1533;OQ=128.02;QD=0.08;RankSumP=0.400000;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5165T>C;refseq.codonCoord=1722;refseq.end=150455564;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5241;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1722S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-4383;refseq.start=150455564;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 0/1 chr1 150455585 . C T 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=1910;Dels=0.00;HRun=0;HaplotypeScore=225.12;MQ=9.04;MQ0=1768;QD=0.01;RankSumP=0.316413;SB=-36.74;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5144G>A;refseq.codonCoord=1715;refseq.end=150455585;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5220;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1715H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-4404;refseq.start=150455585;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150455588 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=1982;Dels=0.00;HRun=1;HaplotypeScore=223.83;MQ=9.14;MQ0=1831;OQ=157.73;QD=0.08;RankSumP=0.130874;SB=-83.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5141G>A;refseq.codonCoord=1714;refseq.end=150455588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5217;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1714N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-4407;refseq.start=150455588;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 0/1 chr1 150455622 . C T 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2066;Dels=0.00;HRun=0;HaplotypeScore=311.46;MQ=10.77;MQ0=1691;OQ=332.21;QD=0.16;RankSumP=0.127032;SB=59.41;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5107G>A;refseq.codonCoord=1703;refseq.end=150455622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5183;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1703S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-4441;refseq.start=150455622;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chr1 150455623 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=2052;Dels=0.00;HRun=0;HaplotypeScore=309.60;MQ=10.80;MQ0=1677;OQ=286.34;QD=0.14;RankSumP=0.427788;SB=-44.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5106C>T;refseq.codonCoord=1702;refseq.end=150455623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5182;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1702H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-4442;refseq.start=150455623;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 1/0 chr1 150455640 . G A 49 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1857;Dels=0.00;HRun=0;HaplotypeScore=117.49;MQ=11.48;MQ0=1483;QD=0.01;RankSumP=0.00885839;SB=37.71;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5089C>T;refseq.codonCoord=1697;refseq.end=150455640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5165;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1697C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-4459;refseq.start=150455640;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr1 150455662 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1371;Dels=0.00;HRun=0;HaplotypeScore=57.30;MQ=13.47;MQ0=999;OQ=217.14;QD=0.16;RankSumP=0.375827;SB=-71.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5067T>C;refseq.codonCoord=1689;refseq.end=150455662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5143;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1689Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-4481;refseq.start=150455662;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr1 150455679 . G C 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DP=650;Dels=0.00;HRun=1;HaplotypeScore=24.62;MQ=7.44;MQ0=616;OQ=213.03;QD=0.33;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5050C>G;refseq.codonCoord=1684;refseq.end=150455679;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5126;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1684G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-4498;refseq.start=150455679;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/1 chr1 150455896 . G A -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=1964;Dels=0.00;HRun=0;HaplotypeScore=197.38;MQ=1.47;MQ0=1957;OQ=244.10;QD=0.12;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4833C>T;refseq.codonCoord=1611;refseq.end=150455896;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4909;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1611Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=4695;refseq.start=150455896;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1805,152:7:-27.99,-2.11,-0.00:21.07 chr1 150456210 . G A 0.05 PASS AC=2;AF=1.00;AN=2;DP=427;Dels=0.00;HRun=0;HaplotypeScore=9.34;MQ=1.65;MQ0=424;OQ=55.14;QD=0.13;SB=-54.56;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4519C>T;refseq.codonCoord=1507;refseq.end=150456210;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4595;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1507C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=4381;refseq.start=150456210;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=gatk GT:AD:DP:GL:GQ 1/1:299,128:2:-8.92,-0.60,-0.00:6.02 chr1 150457032 . C T 11.18 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=125;Dels=0.00;HRun=0;HaplotypeScore=14.78;MQ=10.63;MQ0=122;QD=0.09;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3697G>A;refseq.codonCoord=1233;refseq.end=150457032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3773;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1233S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=3559;refseq.start=150457032;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:120,5:1:-4.37,-0.30,-0.00:1.76 chr1 150457306 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1932;Dels=0.00;HRun=0;HaplotypeScore=187.10;MQ=1.37;MQ0=1926;OQ=102.32;QD=0.05;SB=-3.98;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3423C>T;refseq.codonCoord=1141;refseq.end=150457306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3499;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1141Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=3285;refseq.start=150457306;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1755,173:6:-15.32,-1.81,-7.29:54.86 chr1 150457459 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2435;Dels=0.00;HRun=0;HaplotypeScore=57.03;MQ=15.87;MQ0=1507;OQ=17092.47;QD=7.02;RankSumP=0.0141103;SB=-6436.36;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3270C>T;refseq.codonCoord=1090;refseq.end=150457459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3346;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1090G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=3132;refseq.start=150457459;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/0 chr1 150457569 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2537;Dels=0.00;HRun=1;HaplotypeScore=111.57;MQ=20.28;MQ0=2159;OQ=5912.57;QD=2.33;RankSumP=0.0730815;SB=-2397.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3160G>A;refseq.codonCoord=1054;refseq.end=150457569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3236;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1054K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=3022;refseq.start=150457569;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap-filterIngatk GT 0/1 chr1 150458333 . C G 184.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=15.54;MQ=98.73;MQ0=0;OQ=5365.31;QD=22.45;RankSumP=0.455301;SB=-1629.15;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2396G>C;refseq.codonCoord=799;refseq.end=150458333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2472;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S799T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=2258;refseq.start=150458333;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 150458503 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=767;Dels=0.00;HRun=0;HaplotypeScore=14.43;MQ=97.43;MQ0=0;OQ=15175.72;QD=19.79;RankSumP=0.487114;SB=-5819.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2226C>T;refseq.codonCoord=742;refseq.end=150458503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H742H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=2088;refseq.start=150458503;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 150458738 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=863;Dels=0.00;HRun=1;HaplotypeScore=22.91;MQ=73.87;MQ0=151;OQ=14049.96;QD=16.28;RankSumP=0.0918279;SB=-4635.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1991G>A;refseq.codonCoord=664;refseq.end=150458738;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2067;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R664Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1853;refseq.start=150458738;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 150458917 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1691;Dels=0.00;HRun=0;HaplotypeScore=58.18;MQ=41.36;MQ0=522;OQ=11608.47;QD=6.86;RankSumP=0.440828;SB=-3940.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1812G>A;refseq.codonCoord=604;refseq.end=150458917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1888;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S604S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1674;refseq.start=150458917;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr1 150459179 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=1165;Dels=0.00;HRun=0;HaplotypeScore=20.89;MQ=96.48;MQ0=1;OQ=21698.70;QD=18.63;RankSumP=0.405837;SB=-9190.52;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1550A>G;refseq.codonCoord=517;refseq.end=150459179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1626;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y517C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=1412;refseq.start=150459179;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 150459255 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1491;Dels=0.00;HRun=0;HaplotypeScore=41.75;MQ=96.83;MQ0=2;OQ=30192.97;QD=20.25;RankSumP=0.0976942;SB=-12894.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1474G>A;refseq.codonCoord=492;refseq.end=150459255;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1550;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G492R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=1336;refseq.start=150459255;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 0/1 chr1 150459311 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=1184;Dels=0.00;HRun=1;HaplotypeScore=28.46;MQ=97.23;MQ0=1;OQ=47734.57;QD=40.32;RankSumP=1.00000;SB=-18236.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1418A>G;refseq.codonCoord=473;refseq.end=150459311;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E473G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1280;refseq.start=150459311;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/1 chr1 150459449 . C T 257.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.10;MQ0=0;OQ=5131.17;QD=19.66;RankSumP=0.358124;SB=-1709.25;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1280G>A;refseq.codonCoord=427;refseq.end=150459449;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1356;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G427D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1142;refseq.start=150459449;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 150459602 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=655;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=98.37;MQ0=0;OQ=25063.06;QD=38.26;RankSumP=1.00000;SB=-10609.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1127A>G;refseq.codonCoord=376;refseq.end=150459602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q376R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=989;refseq.start=150459602;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 150459676 . A G 145.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=614;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=98.50;MQ0=0;OQ=22892.54;QD=37.28;RankSumP=1.00000;SB=-8642.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1053T>C;refseq.codonCoord=351;refseq.end=150459676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H351H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=915;refseq.start=150459676;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 150459745 . G T 260.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=6.04;MQ=97.65;MQ0=0;OQ=5621.13;QD=15.27;RankSumP=0.00729458;SB=-2142.20;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.984C>A;refseq.codonCoord=328;refseq.end=150459745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G328G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=846;refseq.start=150459745;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 0/1 chr1 150459771 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.958T>C;refseq.codonCoord=320;refseq.end=150459771;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S320P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=820;refseq.start=150459771;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 150459910 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1478;Dels=0.00;HRun=1;HaplotypeScore=58.08;MQ=82.41;MQ0=3;OQ=25029.45;QD=16.93;RankSumP=0.250946;SB=-8600.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.819C>A;refseq.codonCoord=273;refseq.end=150459910;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H273Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=681;refseq.start=150459910;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr1 150459915 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1498;Dels=0.00;HRun=2;HaplotypeScore=56.14;MQ=81.95;MQ0=3;OQ=26175.85;QD=17.47;RankSumP=0.185241;SB=-8884.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.814C>A;refseq.codonCoord=272;refseq.end=150459915;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R272R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=676;refseq.start=150459915;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 0/1 chr1 150460168 . A G 146.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=98.44;MQ0=0;OQ=3937.93;QD=18.32;RankSumP=0.304793;SB=-1075.20;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.561T>C;refseq.codonCoord=187;refseq.end=150460168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H187H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=423;refseq.start=150460168;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr1 150460171 . G A 266.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=98.26;MQ0=0;OQ=8179.38;QD=39.51;RankSumP=1.00000;SB=-2473.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.558C>T;refseq.codonCoord=186;refseq.end=150460171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S186S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=420;refseq.start=150460171;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 150460475 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.90;MQ0=0;OQ=1483.24;QD=12.90;RankSumP=0.448535;SB=-131.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.254G>A;refseq.codonCoord=85;refseq.end=150460475;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_001009931;refseq.name2=HRNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R85H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=116;refseq.start=150460475;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 150542773 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=1441;Dels=0.00;HRun=0;HaplotypeScore=58.30;MQ=78.02;MQ0=201;OQ=22649.27;QD=15.72;RankSumP=0.491064;SB=-7407.77;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11213G>A;refseq.codonCoord=3738;refseq.end=150542773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11249;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3738H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1499;refseq.start=150542773;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150543001 . C G 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10985G>C;refseq.codonCoord=3662;refseq.end=150543001;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11021;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3662T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1727;refseq.start=150543001;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 1/1 chr1 150543083 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=4014;Dels=0.00;HRun=1;HaplotypeScore=95.66;MQ=16.26;MQ0=1986;OQ=19172.07;QD=4.78;RankSumP=0.207962;SB=-5706.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10903G>A;refseq.codonCoord=3635;refseq.end=150543083;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10939;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3635N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-1809;refseq.start=150543083;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 0/1 chr1 150543207 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.312921;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10779G>C;refseq.codonCoord=3593;refseq.end=150543207;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10815;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3593D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-1933;refseq.start=150543207;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr1 150543222 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0324707;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10764C>T;refseq.codonCoord=3588;refseq.end=150543222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10800;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3588H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1948;refseq.start=150543222;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr1 150543250 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.311804;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10736C>G;refseq.codonCoord=3579;refseq.end=150543250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10772;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3579R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1976;refseq.start=150543250;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chr1 150543295 rs7518080 C T 33.26 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=845;Dels=0.00;HRun=0;HaplotypeScore=34.59;MQ=40.44;MQ0=180;QD=0.04;SB=775.42;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10691G>A;refseq.codonCoord=3564;refseq.end=150543295;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10727;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3564H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-2021;refseq.start=150543295;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:786,59:559:-174.97,-168.36,-1976.30:66.10 chr1 150543323 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=893;Dels=0.00;HRun=0;HaplotypeScore=31.88;MQ=47.63;MQ0=300;OQ=1120.59;QD=1.25;RankSumP=0.340804;SB=-515.26;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10663T>C;refseq.codonCoord=3555;refseq.end=150543323;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10699;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.W3555R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-2049;refseq.start=150543323;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap-filterIngatk GT 0/1 chr1 150543396 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=923;Dels=0.00;HRun=0;HaplotypeScore=38.64;MQ=86.94;MQ0=82;OQ=13692.62;QD=14.83;RankSumP=0.489830;SB=-4947.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10590G>T;refseq.codonCoord=3530;refseq.end=150543396;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10626;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3530S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-2122;refseq.start=150543396;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr1 150543495 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1155;Dels=0.00;HRun=0;HaplotypeScore=20.10;MQ=93.14;MQ0=4;OQ=18420.30;QD=15.95;RankSumP=0.324922;SB=-6806.20;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10491T>C;refseq.codonCoord=3497;refseq.end=150543495;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10527;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3497D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-2221;refseq.start=150543495;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 150543513 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1370;Dels=0.00;HRun=0;HaplotypeScore=37.64;MQ=92.00;MQ0=3;OQ=23168.78;QD=16.91;RankSumP=0.304032;SB=-7498.21;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10473T>C;refseq.codonCoord=3491;refseq.end=150543513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10509;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3491N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-2239;refseq.start=150543513;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr1 150543679 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=2169;Dels=0.00;HRun=0;HaplotypeScore=58.78;MQ=45.35;MQ0=364;OQ=33215.07;QD=15.31;RankSumP=0.346483;SB=-13918.03;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10307G>C;refseq.codonCoord=3436;refseq.end=150543679;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10343;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3436A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-2405;refseq.start=150543679;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap-filterIngatk GT 1/0 chr1 150543792 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1027;Dels=0.00;HRun=1;HaplotypeScore=37.20;MQ=25.76;MQ0=490;OQ=7100.13;QD=6.91;RankSumP=0.462429;SB=-2534.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10194T>C;refseq.codonCoord=3398;refseq.end=150543792;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10230;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3398S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-2518;refseq.start=150543792;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 0/1 chr1 150543969 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=2177;Dels=0.00;HRun=1;HaplotypeScore=70.84;MQ=56.58;MQ0=6;OQ=37113.55;QD=17.05;RankSumP=0.250765;SB=-15059.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10017G>A;refseq.codonCoord=3339;refseq.end=150543969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10053;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3339Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-2695;refseq.start=150543969;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr1 150544020 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2339;Dels=0.00;HRun=1;HaplotypeScore=60.09;MQ=70.28;MQ0=10;OQ=38438.08;QD=16.43;RankSumP=1.94858e-05;SB=-14408.53;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9966A>G;refseq.codonCoord=3322;refseq.end=150544020;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10002;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3322Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-2746;refseq.start=150544020;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr1 150544341 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1225;Dels=0.00;HRun=1;HaplotypeScore=24.91;MQ=13.30;MQ0=1156;OQ=89.28;QD=0.07;RankSumP=0.231974;SB=44.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9645G>T;refseq.codonCoord=3215;refseq.end=150544341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9681;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3215V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-3067;refseq.start=150544341;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 1/0 chr1 150544446 . T C 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.377137;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9540A>G;refseq.codonCoord=3180;refseq.end=150544446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9576;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3180S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-3172;refseq.start=150544446;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 1/0 chr1 150544450 . A C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.463134;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.9536T>G;refseq.codonCoord=3179;refseq.end=150544450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9572;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3179G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-3176;refseq.start=150544450;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr1 150545066 . C G -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=3638;Dels=0.00;HRun=1;HaplotypeScore=161.23;MQ=0.86;MQ0=3635;OQ=102.53;QD=0.03;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8920G>C;refseq.codonCoord=2974;refseq.end=150545066;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8956;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2974P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-3792;refseq.start=150545066;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:3554,83:3:-13.74,-0.90,-0.00:9.03 chr1 150545313 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1842;Dels=0.00;HRun=1;HaplotypeScore=52.38;MQ=9.12;MQ0=1744;OQ=1079.12;QD=0.59;RankSumP=0.208747;SB=-220.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8673G>T;refseq.codonCoord=2891;refseq.end=150545313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8709;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2891V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-4039;refseq.start=150545313;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 1/0 chr1 150545438 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=3319;Dels=0.00;HRun=0;HaplotypeScore=85.90;MQ=32.17;MQ0=563;OQ=14713.37;QD=4.43;SB=-3779.79;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8548G>A;refseq.codonCoord=2850;refseq.end=150545438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8584;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2850S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-4164;refseq.start=150545438;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2644,673:2343:-1470.34,-705.69,-7648.29:99 chr1 150545480 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=3593;Dels=0.00;HRun=0;HaplotypeScore=89.07;MQ=21.01;MQ0=2435;OQ=11069.65;QD=3.08;RankSumP=0.380833;SB=-2945.33;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8506A>C;refseq.codonCoord=2836;refseq.end=150545480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8542;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2836R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-4206;refseq.start=150545480;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap-filterIngatk GT 1/0 chr1 150545643 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=3854;Dels=0.00;HRun=0;HaplotypeScore=78.23;MQ=22.17;MQ0=972;OQ=24041.79;QD=6.24;RankSumP=0.352745;SB=-7175.91;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8343C>T;refseq.codonCoord=2781;refseq.end=150545643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8379;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2781D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-4369;refseq.start=150545643;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 1/0 chr1 150545908 . C G 19.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=3296;Dels=0.00;HRun=0;HaplotypeScore=172.19;MQ=0.52;MQ0=3295;QD=0.01;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8078G>C;refseq.codonCoord=2693;refseq.end=150545908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8114;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2693T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-4634;refseq.start=150545908;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3245,47:1:-5.19,-0.30,-0.00:1.76 chr1 150546030 . T G 23.13 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=3778;Dels=0.00;HRun=0;HaplotypeScore=179.86;MQ=3.08;MQ0=3771;QD=0.01;SB=-3.98;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7956A>C;refseq.codonCoord=2652;refseq.end=150546030;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7992;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2652D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-4756;refseq.start=150546030;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3131,645:7:-7.70,-2.11,-20.06:55.94 chr1 150546038 . C G 31.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=3685;Dels=0.00;HRun=1;HaplotypeScore=161.03;MQ=3.44;MQ0=3677;QD=0.01;SB=8.06;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7948G>C;refseq.codonCoord=2650;refseq.end=150546038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7984;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2650P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-4764;refseq.start=150546038;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3594,88:8:-8.79,-2.41,-27.98:63.85 chr1 150546353 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1170;Dels=0.00;HRun=0;HaplotypeScore=32.06;MQ=81.80;MQ0=115;OQ=18878.83;QD=16.14;RankSumP=0.416816;SB=-6253.70;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7633G>A;refseq.codonCoord=2545;refseq.end=150546353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7669;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2545R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-5079;refseq.start=150546353;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 150546465 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1830;Dels=0.00;HRun=0;HaplotypeScore=43.73;MQ=74.59;MQ0=290;OQ=29979.30;QD=16.38;RankSumP=0.380842;SB=-11656.65;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7521C>G;refseq.codonCoord=2507;refseq.end=150546465;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7557;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2507Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-5191;refseq.start=150546465;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 0/1 chr1 150546544 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=1797;Dels=0.00;HRun=0;HaplotypeScore=51.81;MQ=80.99;MQ0=69;OQ=27916.80;QD=15.54;RankSumP=0.457742;SB=-9838.81;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7442T>C;refseq.codonCoord=2481;refseq.end=150546544;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7478;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2481S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-5270;refseq.start=150546544;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 0/1 chr1 150546656 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1508;Dels=0.00;HRun=0;HaplotypeScore=34.56;MQ=77.82;MQ0=94;OQ=22488.52;QD=14.91;RankSumP=0.206893;SB=-7211.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7330A>G;refseq.codonCoord=2444;refseq.end=150546656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7366;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2444E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-5382;refseq.start=150546656;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 150546794 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=1585;Dels=0.00;HRun=0;HaplotypeScore=58.74;MQ=24.91;MQ0=1417;OQ=2437.52;QD=1.54;RankSumP=0.0932996;SB=-55.92;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7192G>C;refseq.codonCoord=2398;refseq.end=150546794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7228;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2398Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-5520;refseq.start=150546794;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 1/0 chr1 150546889 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2353;Dels=0.00;HRun=0;HaplotypeScore=97.10;MQ=8.19;MQ0=2325;OQ=267.67;QD=0.11;SB=-6.99;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7097G>C;refseq.codonCoord=2366;refseq.end=150546889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7133;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2366T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-5615;refseq.start=150546889;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1867,485:23:-36.98,-6.93,-73.54:99 chr1 150546971 . C T 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.254012;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7015G>A;refseq.codonCoord=2339;refseq.end=150546971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7051;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2339N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-5697;refseq.start=150546971;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr1 150546996 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0710377;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6990C>T;refseq.codonCoord=2330;refseq.end=150546996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7026;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2330H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-5722;refseq.start=150546996;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr1 150547095 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1964;Dels=0.00;HRun=0;HaplotypeScore=46.97;MQ=30.88;MQ0=658;OQ=15188.54;QD=7.73;RankSumP=0.201871;SB=-5305.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6891G>C;refseq.codonCoord=2297;refseq.end=150547095;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6927;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2297D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-5821;refseq.start=150547095;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/0 chr1 150547183 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.180540;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6803A>G;refseq.codonCoord=2268;refseq.end=150547183;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6839;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2268R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-5909;refseq.start=150547183;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 1/0 chr1 150547197 . C A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.416584;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6789G>T;refseq.codonCoord=2263;refseq.end=150547197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6825;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2263A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-5923;refseq.start=150547197;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr1 150547360 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1877;Dels=0.00;HRun=0;HaplotypeScore=38.78;MQ=94.65;MQ0=0;OQ=13822.09;QD=7.36;SB=-2185.57;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6626A>G;refseq.codonCoord=2209;refseq.end=150547360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6662;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2209R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-6086;refseq.start=150547360;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1496,379:1802:-1381.21,-542.79,-5953.86:99 chr1 150547383 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2148;Dels=0.00;HRun=0;HaplotypeScore=55.06;MQ=93.87;MQ0=0;OQ=21480.81;QD=10.00;SB=-6498.65;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6603T>C;refseq.codonCoord=2201;refseq.end=150547383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6639;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2201D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-6109;refseq.start=150547383;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1538,602:2052:-2147.08,-618.09,-6188.54:99 chr1 150547406 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=2462;Dels=0.00;HRun=0;HaplotypeScore=883.65;MQ=91.80;MQ0=51;OQ=61964.49;QD=25.17;RankSumP=0.0231591;SB=-21244.68;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6580T>C;refseq.codonCoord=2194;refseq.end=150547406;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6616;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2194H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-6132;refseq.start=150547406;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 0/1 chr1 150547412 . T G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2496;Dels=0.00;HRun=0;HaplotypeScore=767.14;MQ=90.40;MQ0=110;OQ=28546.61;QD=11.44;SB=-9251.39;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6574A>C;refseq.codonCoord=2192;refseq.end=150547412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6610;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2192Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-6138;refseq.start=150547412;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1762,733:2314:-2853.66,-696.75,-6531.62:99 chr1 150547488 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=2194;Dels=0.00;HRun=1;HaplotypeScore=154.05;MQ=77.87;MQ0=309;OQ=32980.11;QD=15.03;RankSumP=0.111941;SB=-8985.70;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6498T>C;refseq.codonCoord=2166;refseq.end=150547488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6534;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2166S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-6214;refseq.start=150547488;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 0/1 chr1 150547524 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=2132;Dels=0.00;HRun=0;HaplotypeScore=68.15;MQ=85.26;MQ0=146;OQ=19985.19;QD=9.37;RankSumP=0.000117034;SB=-6382.13;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6462A>C;refseq.codonCoord=2154;refseq.end=150547524;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6498;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2154H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-6250;refseq.start=150547524;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr1 150547631 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1655;Dels=0.00;HRun=0;HaplotypeScore=42.30;MQ=93.89;MQ0=34;OQ=22446.78;QD=13.56;RankSumP=0.0994103;SB=-7638.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6355T>C;refseq.codonCoord=2119;refseq.end=150547631;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6391;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2119H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=6217;refseq.start=150547631;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 0/1 chr1 150547632 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1638;Dels=0.00;HRun=0;HaplotypeScore=46.11;MQ=93.98;MQ0=34;OQ=21978.74;QD=13.42;RankSumP=0.0674316;SB=-7385.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6354T>C;refseq.codonCoord=2118;refseq.end=150547632;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6390;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2118H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=6216;refseq.start=150547632;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150547663 . G A 0.15 PASS AC=1;AF=0.50;AN=2;DP=1232;Dels=0.00;HRun=0;HaplotypeScore=27.30;MQ=96.88;MQ0=0;OQ=18295.16;QD=14.85;SB=-6484.36;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6323C>T;refseq.codonCoord=2108;refseq.end=150547663;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6359;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2108V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=6185;refseq.start=150547663;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:780,450:1198:-1828.52,-360.78,-2979.13:99 chr1 150547852 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=3142;Dels=0.00;HRun=0;HaplotypeScore=112.97;MQ=64.08;MQ0=447;OQ=19981.63;QD=6.36;RankSumP=0.395972;SB=-6306.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6134G>C;refseq.codonCoord=2045;refseq.end=150547852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6170;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2045T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=5996;refseq.start=150547852;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 1/0 chr1 150547914 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=3762;Dels=0.00;HRun=0;HaplotypeScore=72.56;MQ=51.06;MQ0=523;OQ=16084.02;QD=4.28;RankSumP=0.319419;SB=-2812.41;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6072T>C;refseq.codonCoord=2024;refseq.end=150547914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6108;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2024H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=5934;refseq.start=150547914;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150547928 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=3800;Dels=0.00;HRun=0;HaplotypeScore=71.21;MQ=52.05;MQ0=414;OQ=21611.40;QD=5.69;RankSumP=0.00545957;SB=-4730.48;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6058T>G;refseq.codonCoord=2020;refseq.end=150547928;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6094;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2020A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=5920;refseq.start=150547928;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr1 150548103 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1664;Dels=0.00;HRun=1;HaplotypeScore=44.33;MQ=77.55;MQ0=29;OQ=36133.49;QD=21.71;RankSumP=0.242800;SB=-12424.89;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5883C>A;refseq.codonCoord=1961;refseq.end=150548103;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5919;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1961Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=5745;refseq.start=150548103;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr1 150548147 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1231;Dels=0.00;HRun=3;HaplotypeScore=20.15;MQ=82.19;MQ0=96;OQ=9108.79;QD=7.40;RankSumP=0.473364;SB=-1611.22;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5839T>G;refseq.codonCoord=1947;refseq.end=150548147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5875;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1947G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=5701;refseq.start=150548147;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 150548158 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1190;Dels=0.00;HRun=0;HaplotypeScore=34.81;MQ=78.17;MQ0=163;OQ=7161.06;QD=6.02;SB=-713.92;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5828T>A;refseq.codonCoord=1943;refseq.end=150548158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5864;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1943H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=5690;refseq.start=150548158;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:910,276:961:-715.11,-289.38,-3234.77:99 chr1 150548314 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=1518;Dels=0.00;HRun=0;HaplotypeScore=51.03;MQ=87.09;MQ0=26;OQ=30611.31;QD=20.17;RankSumP=0.0147022;SB=-12653.81;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5672G>A;refseq.codonCoord=1891;refseq.end=150548314;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5708;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1891Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=5534;refseq.start=150548314;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 0/1 chr1 150548572 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1911;Dels=0.00;HRun=0;HaplotypeScore=63.45;MQ=74.64;MQ0=164;OQ=32592.18;QD=17.06;RankSumP=0.0700357;SB=-13193.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5414C>T;refseq.codonCoord=1805;refseq.end=150548572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5450;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1805V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=5276;refseq.start=150548572;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/0 chr1 150548891 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1378;Dels=0.00;HRun=0;HaplotypeScore=33.38;MQ=98.04;MQ0=0;OQ=27812.30;QD=20.18;RankSumP=0.496857;SB=-9382.72;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5095C>T;refseq.codonCoord=1699;refseq.end=150548891;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5131;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1699C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=4957;refseq.start=150548891;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr1 150548935 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=1736;Dels=0.00;HRun=0;HaplotypeScore=47.80;MQ=96.00;MQ0=0;OQ=33810.07;QD=19.48;RankSumP=0.415645;SB=-14227.65;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5051G>A;refseq.codonCoord=1684;refseq.end=150548935;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5087;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1684H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=4913;refseq.start=150548935;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150549541 . G T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=1867;Dels=0.00;HRun=0;HaplotypeScore=39.07;MQ=87.98;MQ0=66;OQ=34226.14;QD=18.33;RankSumP=0.00900027;SB=-11679.20;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4445C>A;refseq.codonCoord=1482;refseq.end=150549541;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4481;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1482Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=4307;refseq.start=150549541;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 0/1 chr1 150549860 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=2066;Dels=0.00;HRun=1;HaplotypeScore=47.09;MQ=53.90;MQ0=489;OQ=11136.71;QD=5.39;RankSumP=0.455999;SB=-2202.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4126A>G;refseq.codonCoord=1376;refseq.end=150549860;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4162;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1376G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=3988;refseq.start=150549860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 1/0 chr1 150549907 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=2031;Dels=0.00;HRun=0;HaplotypeScore=101.28;MQ=64.72;MQ0=248;OQ=21348.30;QD=10.51;RankSumP=0.0981165;SB=-6865.34;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4079G>A;refseq.codonCoord=1360;refseq.end=150549907;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4115;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1360H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=3941;refseq.start=150549907;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr1 150550402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3584A>C;refseq.codonCoord=1195;refseq.end=150550402;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3620;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1195P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=3446;refseq.start=150550402;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 150550486 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=2084;Dels=0.00;HRun=1;HaplotypeScore=32.25;MQ=65.11;MQ0=447;OQ=23260.38;QD=11.16;RankSumP=0.445632;SB=-6750.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3500C>G;refseq.codonCoord=1167;refseq.end=150550486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3536;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1167G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=3362;refseq.start=150550486;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 0/1 chr1 150550599 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=961;Dels=0.00;HRun=1;HaplotypeScore=28.00;MQ=31.13;MQ0=454;OQ=6795.77;QD=7.07;RankSumP=0.204599;SB=-1935.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3387T>C;refseq.codonCoord=1129;refseq.end=150550599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3423;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1129S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=3249;refseq.start=150550599;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 0/1 chr1 150551430 . C T 56 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.00304953;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2556G>A;refseq.codonCoord=852;refseq.end=150551430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2592;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R852R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=2418;refseq.start=150551430;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 0/1 chr1 150551478 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=1984;Dels=0.00;HRun=0;HaplotypeScore=39.54;MQ=81.52;MQ0=115;OQ=31428.63;QD=15.84;RankSumP=0.0185071;SB=-13060.18;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2508T>C;refseq.codonCoord=836;refseq.end=150551478;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2544;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D836D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=2370;refseq.start=150551478;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 0/1 chr1 150551723 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=2179;Dels=0.00;HRun=2;HaplotypeScore=45.62;MQ=75.96;MQ0=100;OQ=39968.78;QD=18.34;RankSumP=0.00169390;SB=-16955.79;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2263G>A;refseq.codonCoord=755;refseq.end=150551723;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2299;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E755K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2125;refseq.start=150551723;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 150552349 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1637A>C;refseq.codonCoord=546;refseq.end=150552349;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1673;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H546P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1499;refseq.start=150552349;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 150552554 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=940;Dels=0.00;HRun=0;HaplotypeScore=19.61;MQ=93.54;MQ0=2;OQ=20360.76;QD=21.66;RankSumP=0.237774;SB=-8757.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1432C>T;refseq.codonCoord=478;refseq.end=150552554;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1468;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P478S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=1294;refseq.start=150552554;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 150552626 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=983;Dels=0.00;HRun=0;HaplotypeScore=32.25;MQ=96.99;MQ0=2;OQ=16663.46;QD=16.95;RankSumP=0.110958;SB=-6207.63;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1360A>G;refseq.codonCoord=454;refseq.end=150552626;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1396;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T454A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1222;refseq.start=150552626;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 150552656 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=977;Dels=0.00;HRun=0;HaplotypeScore=29.33;MQ=98.33;MQ0=0;OQ=17307.40;QD=17.71;RankSumP=0.0335347;SB=-6941.11;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1330G>A;refseq.codonCoord=444;refseq.end=150552656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G444R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1192;refseq.start=150552656;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr1 150552991 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=782;Dels=0.00;HRun=0;HaplotypeScore=12.97;MQ=98.10;MQ0=0;OQ=14528.13;QD=18.58;RankSumP=0.426484;SB=-4298.34;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.995G>T;refseq.codonCoord=332;refseq.end=150552991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_002016;refseq.name2=FLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G332V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=857;refseq.start=150552991;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 150589756 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=1;HaplotypeScore=17.11;MQ=98.83;MQ0=0;OQ=7508.77;QD=17.79;RankSumP=0.218105;SB=-1871.68;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7130C>A;refseq.codonCoord=2377;refseq.end=150589756;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7203;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2377*;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-1920;refseq.start=150589756;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 0/1 chr1 150592356 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1470;Dels=0.00;HRun=1;HaplotypeScore=35.33;MQ=93.31;MQ0=11;OQ=31311.26;QD=21.30;RankSumP=0.237335;SB=-11512.48;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4530C>T;refseq.codonCoord=1510;refseq.end=150592356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4603;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1510H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=4392;refseq.start=150592356;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 1/0 chr1 150594093 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1339;Dels=0.00;HRun=1;HaplotypeScore=31.58;MQ=86.17;MQ0=42;OQ=18005.81;QD=13.45;RankSumP=0.0613222;SB=-5765.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2793G>A;refseq.codonCoord=931;refseq.end=150594093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2866;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q931Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=2655;refseq.start=150594093;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 150594126 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=943;Dels=0.00;HRun=1;HaplotypeScore=40.16;MQ=84.48;MQ0=21;OQ=1654.23;QD=1.75;RankSumP=0.00609028;SB=-134.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2760T>C;refseq.codonCoord=920;refseq.end=150594126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2833;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S920S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=2622;refseq.start=150594126;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr1 150595035 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=929;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=48.76;MQ0=170;OQ=6355.68;QD=6.84;RankSumP=0.322052;SB=61.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1851T>C;refseq.codonCoord=617;refseq.end=150595035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1924;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S617S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1713;refseq.start=150595035;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 150596059 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=618;Dels=0.00;HRun=2;HaplotypeScore=15.76;MQ=98.75;MQ0=0;OQ=14032.03;QD=22.71;RankSumP=0.0791536;SB=-3472.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.827G>A;refseq.codonCoord=276;refseq.end=150596059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R276Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=689;refseq.start=150596059;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 150597864 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.77;MQ0=0;OQ=1336.47;QD=21.21;RankSumP=0.148818;SB=-380.40;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.121C>T;refseq.codonCoord=41;refseq.end=150597864;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_001014342;refseq.name2=FLG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L41F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-18;refseq.start=150597864;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr1 150648744 . C T 182.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=342;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=98.88;MQ0=0;OQ=5648.60;QD=16.52;RankSumP=0.485755;SB=-2248.99;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1438G>A;refseq.codonCoord=480;refseq.end=150648744;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1512;refseq.name=NM_016190;refseq.name2=CRNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G480S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-402;refseq.start=150648744;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 150750753 . G A 377.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.43;MQ0=0;OQ=2232.49;QD=36.01;RankSumP=1.00000;SB=-848.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.119G>A;refseq.codonCoord=40;refseq.end=150750753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_178438;refseq.name2=LCE5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C40Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=140;refseq.start=150750753;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 150754603 . C T 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.68;MQ0=0;OQ=810.35;QD=30.01;RankSumP=1.00000;SB=-228.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.120C>T;refseq.codonCoord=40;refseq.end=150754603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_019060;refseq.name2=CRCT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C40C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=142;refseq.start=150754603;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr1 150754687 . C T 68.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=96.57;MQ0=0;OQ=679.29;QD=22.64;RankSumP=1.00000;SB=-85.11;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.204C>T;refseq.codonCoord=68;refseq.end=150754687;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_019060;refseq.name2=CRCT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R68R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=226;refseq.start=150754687;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr1 150818909 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=54.92;MQ0=50;OQ=1022.35;QD=9.47;RankSumP=0.393591;SB=-525.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.128G>T;refseq.codonCoord=43;refseq.end=150818909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_032563;refseq.name2=LCE3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.G43V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=149;refseq.start=150818909;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 150839987 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=3.65876e-07;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.156C>G;refseq.codonCoord=52;refseq.end=150839987;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_178434;refseq.name2=LCE3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C52W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-200;refseq.start=150839987;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 150853144 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.234T>G;refseq.codonCoord=78;refseq.end=150853144;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_178433;refseq.name2=LCE3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S78R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-55;refseq.start=150853144;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr1 150903467 . A T 113.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=11.16;MQ=68.92;MQ0=3;OQ=1771.29;QD=14.40;RankSumP=0.0341016;SB=-898.84;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.262A>T;refseq.codonCoord=88;refseq.end=150903467;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_178430;refseq.name2=LCE2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S88C;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=283;refseq.start=150903467;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 150948319 . T C 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.619519;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.144T>C;refseq.codonCoord=48;refseq.end=150948319;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_178356;refseq.name2=LCE4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C48C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=173;refseq.start=150948319;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr1 150948320 . G T 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.543454;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.145G>T;refseq.codonCoord=49;refseq.end=150948320;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_178356;refseq.name2=LCE4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G49C;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=174;refseq.start=150948320;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr1 150998717 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.10651e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.29G>C;refseq.codonCoord=10;refseq.end=150998717;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=87;refseq.name=NM_001025231;refseq.name2=KPRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R10P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=57;refseq.start=150998717;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 150999060 . G C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2506.49;QD=47.29;RankSumP=1.00000;SB=-826.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.372G>C;refseq.codonCoord=124;refseq.end=150999060;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001025231;refseq.name2=KPRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A124A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=400;refseq.start=150999060;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 150999925 . T A 317.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=5.62;MQ=98.58;MQ0=0;OQ=9518.18;QD=40.33;RankSumP=1.00000;SB=-4502.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1237T>A;refseq.codonCoord=413;refseq.end=150999925;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_001025231;refseq.name2=KPRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C413S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1229;refseq.start=150999925;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 151026574 . A G 10.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=6.54;MQ=56.39;MQ0=21;OQ=529.51;QD=10.59;RankSumP=1.00000;SB=-67.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.175A>G;refseq.codonCoord=59;refseq.end=151026574;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_178353;refseq.name2=LCE1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S59G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=197;refseq.start=151026574;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr1 151044492 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=66.86;MQ0=4;OQ=1885.41;QD=36.97;RankSumP=1.00000;SB=-746.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.87T>C;refseq.codonCoord=29;refseq.end=151044492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_178351;refseq.name2=LCE1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C29C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=107;refseq.start=151044492;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 1/1 chr1 151051794 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=51.17;MQ0=20;OQ=672.83;QD=9.89;RankSumP=0.622546;SB=-294.19;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.248G>A;refseq.codonCoord=83;refseq.end=151051794;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_178349;refseq.name2=LCE1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R83H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-416;refseq.start=151051794;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 151150156 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.0178571;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1259T>G;refseq.codonCoord=420;refseq.end=151150156;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_005547;refseq.name2=IVL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V420G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-831;refseq.start=151150156;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 151150159 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.0571429;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1262A>G;refseq.codonCoord=421;refseq.end=151150159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1308;refseq.name=NM_005547;refseq.name2=IVL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E421G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-828;refseq.start=151150159;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 151211218 . C T 190.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.85;MQ0=0;OQ=2944.34;QD=15.02;RankSumP=0.309177;SB=-507.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.228C>T;refseq.codonCoord=76;refseq.end=151211218;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_173080;refseq.name2=SPRR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S76S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=248;refseq.start=151211218;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 151224456 . C A 99.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=5.55;MQ=62.84;MQ0=18;OQ=1730.02;QD=11.93;RankSumP=0.265598;SB=-790.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.126C>A;refseq.codonCoord=42;refseq.end=151224456;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_005987;refseq.name2=SPRR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H42Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=145;refseq.start=151224456;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 151224511 . G A 289.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=85.34;MQ0=2;OQ=2226.43;QD=17.53;RankSumP=0.0149564;SB=-934.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.181G>A;refseq.codonCoord=61;refseq.end=151224511;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_005987;refseq.name2=SPRR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V61I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=200;refseq.start=151224511;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 151242119 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=2;HaplotypeScore=3.07;MQ=98.59;MQ0=0;OQ=5042.44;QD=17.04;RankSumP=0.456455;SB=-1409.25;SecondBestBaseQ=32;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.-2G>A;refseq.codingCoordStr_2=c.-2G>A;refseq.end_1=151242119;refseq.end_2=151242119;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=65;refseq.mrnaCoord_2=149;refseq.name2_1=SPRR3;refseq.name2_2=SPRR3;refseq.name_1=NM_001097589;refseq.name_2=NM_005416;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=151242119;refseq.start_2=151242119;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr1 151242339 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=33.79;MQ=46.82;MQ0=38;OQ=372.23;QD=1.68;RankSumP=0.677214;SB=-133.81;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.219C>T;refseq.codingCoordStr_2=c.219C>T;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=151242339;refseq.end_2=151242339;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=285;refseq.mrnaCoord_2=369;refseq.name2_1=SPRR3;refseq.name2_2=SPRR3;refseq.name_1=NM_001097589;refseq.name_2=NM_005416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G73G;refseq.proteinCoordStr_2=p.G73G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=238;refseq.spliceDist_2=238;refseq.start_1=151242339;refseq.start_2=151242339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap-filterIngatk GT 0/1 chr1 151242387 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=10.75;MQ=46.39;MQ0=84;OQ=4132.25;QD=12.56;RankSumP=0.488556;SB=-1670.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.267C>A;refseq.codingCoordStr_2=c.267C>A;refseq.codonCoord_1=89;refseq.codonCoord_2=89;refseq.end_1=151242387;refseq.end_2=151242387;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=333;refseq.mrnaCoord_2=417;refseq.name2_1=SPRR3;refseq.name2_2=SPRR3;refseq.name_1=NM_001097589;refseq.name_2=NM_005416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G89G;refseq.proteinCoordStr_2=p.G89G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=286;refseq.spliceDist_2=286;refseq.start_1=151242387;refseq.start_2=151242387;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr1 151242453 . A G 239.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=3.76;MQ=91.73;MQ0=4;OQ=6261.42;QD=19.09;RankSumP=0.0193783;SB=-2307.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.333A>G;refseq.codingCoordStr_2=c.333A>G;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.end_1=151242453;refseq.end_2=151242453;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=399;refseq.mrnaCoord_2=483;refseq.name2_1=SPRR3;refseq.name2_2=SPRR3;refseq.name_1=NM_001097589;refseq.name_2=NM_005416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E111E;refseq.proteinCoordStr_2=p.E111E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=352;refseq.spliceDist_2=352;refseq.start_1=151242453;refseq.start_2=151242453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr1 151242565 . C G 266.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.57;MQ0=0;OQ=3209.03;QD=18.66;RankSumP=0.439278;SB=-1371.14;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.445C>G;refseq.codingCoordStr_2=c.445C>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=151242565;refseq.end_2=151242565;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=511;refseq.mrnaCoord_2=595;refseq.name2_1=SPRR3;refseq.name2_2=SPRR3;refseq.name_1=NM_001097589;refseq.name_2=NM_005416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L149V;refseq.proteinCoordStr_2=p.L149V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-392;refseq.spliceDist_2=-392;refseq.start_1=151242565;refseq.start_2=151242565;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr1 151271472 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=154;Dels=0.00;HRun=2;HaplotypeScore=9.54;MQ=94.30;MQ0=0;OQ=1705.83;QD=11.08;RankSumP=0.0912653;SB=-563.90;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.27T>C;refseq.codonCoord=9;refseq.end=151271472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=91;refseq.name=NM_003125;refseq.name2=SPRR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=46;refseq.start=151271472;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 151271477 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=93.26;MQ0=0;OQ=1724.28;QD=11.27;RankSumP=0.0169401;SB=-368.25;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.32C>T;refseq.codonCoord=11;refseq.end=151271477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_003125;refseq.name2=SPRR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T11I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=51;refseq.start=151271477;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 151271607 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=11.40;MQ=64.95;MQ0=38;OQ=1659.68;QD=10.78;RankSumP=0.418701;SB=-766.63;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.162C>T;refseq.codonCoord=54;refseq.end=151271607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_003125;refseq.name2=SPRR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=181;refseq.start=151271607;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 151295653 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.183A>C;refseq.codonCoord=61;refseq.end=151295653;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_005988;refseq.name2=SPRR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=202;refseq.start=151295653;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 151295761 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=516;Dels=0.00;HRun=1;HaplotypeScore=7.84;MQ=27.94;MQ0=464;OQ=1204.95;QD=2.34;RankSumP=0.619048;SB=-40.54;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.75G>A;refseq.codonCoord=25;refseq.end=151295761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=136;refseq.name=NM_005988;refseq.name2=SPRR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E25E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=94;refseq.start=151295761;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 151309757 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.183A>C;refseq.codonCoord=61;refseq.end=151309757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_001017418;refseq.name2=SPRR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=199;refseq.start=151309757;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 151351651 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.183A>C;refseq.codonCoord=61;refseq.end=151351651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_001014450;refseq.name2=SPRR2F;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=202;refseq.start=151351651;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 151500134 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=1.39;MQ=96.01;MQ0=0;OQ=247.11;QD=10.30;RankSumP=0.532638;SB=-10.00;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.85A>G;refseq.codonCoord=29;refseq.end=151500134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=139;refseq.name=NM_000427;refseq.name2=LOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S29G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=108;refseq.start=151500134;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 151542996 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.490A>C;refseq.codonCoord=164;refseq.end=151542996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_052891;refseq.name2=PGLYRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T164P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-40;refseq.start=151542996;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 151544047 . C T 173.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=98.61;MQ0=0;OQ=2812.10;QD=14.88;RankSumP=0.424055;SB=-823.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.376G>A;refseq.codonCoord=126;refseq.end=151544047;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_052891;refseq.name2=PGLYRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G126S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=151544047;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 151546320 . C T 133.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=8.07;MQ=97.87;MQ0=0;OQ=1271.60;QD=17.42;RankSumP=0.245424;SB=-271.79;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.103G>A;refseq.codonCoord=35;refseq.end=151546320;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_052891;refseq.name2=PGLYRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A35T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=48;refseq.start=151546320;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 151579668 . C T 125.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=98.87;MQ0=0;OQ=2001.92;QD=13.44;RankSumP=0.147130;SB=-511.96;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.637G>A;refseq.codonCoord=213;refseq.end=151579668;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_020393;refseq.name2=PGLYRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V213I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=12;refseq.start=151579668;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 151580777 . C A 281.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.14;MQ0=0;OQ=2748.88;QD=15.53;RankSumP=0.131710;SB=-1268.34;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.575G>T;refseq.codonCoord=192;refseq.end=151580777;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_020393;refseq.name2=PGLYRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G192V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-51;refseq.start=151580777;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 151582203 . A G 328.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=6039.76;QD=36.83;RankSumP=1.00000;SB=-442.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.459T>C;refseq.codonCoord=153;refseq.end=151582203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_020393;refseq.name2=PGLYRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F153F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-14;refseq.start=151582203;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 151586996 . T G 166.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=6.26;MQ=98.64;MQ0=0;OQ=1545.55;QD=13.44;RankSumP=0.326671;SB=-559.93;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.37A>C;refseq.codonCoord=13;refseq.end=151586996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_020393;refseq.name2=PGLYRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I13L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-13;refseq.start=151586996;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 151587025 . G A 186.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.47;MQ0=0;OQ=3018.57;QD=21.72;RankSumP=0.162146;SB=-1487.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8C>T;refseq.codonCoord=3;refseq.end=151587025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=73;refseq.name=NM_020393;refseq.name2=PGLYRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-42;refseq.start=151587025;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 151657250 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=756;Dels=0.00;HRun=0;HaplotypeScore=18.90;MQ=76.82;MQ0=40;OQ=14508.61;QD=19.19;RankSumP=0.216945;SB=-5404.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.68G>A;refseq.codonCoord=23;refseq.end=151657250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_176823;refseq.name2=S100A7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R23H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-74;refseq.start=151657250;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 151698030 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=915;Dels=0.00;HRun=0;HaplotypeScore=22.18;MQ=89.22;MQ0=15;OQ=37299.09;QD=40.76;RankSumP=1.00000;SB=-16388.27;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.84G>C;refseq.codonCoord=28;refseq.end=151698030;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_002963;refseq.name2=S100A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.E28D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-58;refseq.start=151698030;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 151698059 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=890;Dels=0.00;HRun=1;HaplotypeScore=23.68;MQ=81.69;MQ0=76;OQ=14886.71;QD=16.73;RankSumP=0.0620996;SB=-3638.49;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.55A>C;refseq.codonCoord=19;refseq.end=151698059;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_002963;refseq.name2=S100A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K19Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=72;refseq.start=151698059;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 151776514 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=533;Dels=0.00;HRun=1;HaplotypeScore=13.78;MQ=98.85;MQ0=0;OQ=9854.34;QD=18.49;RankSumP=0.201487;SB=-3807.14;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.215A>G;refseq.codonCoord=72;refseq.end=151776514;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_002962;refseq.name2=S100A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D72G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=23;refseq.start=151776514;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 151986156 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.418A>C;refseq.codonCoord=140;refseq.end=151986156;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_023015;refseq.name2=INTS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T140P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=151986156;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 151998677 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1201T>G;refseq.codonCoord=401;refseq.end=151998677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1745;refseq.name=NM_023015;refseq.name2=INTS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F401V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-37;refseq.start=151998677;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr1 151999450 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1277A>C;refseq.codonCoord=426;refseq.end=151999450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1821;refseq.name=NM_023015;refseq.name2=INTS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H426P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=40;refseq.start=151999450;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 152014861 . G C 70 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=1.06503e-05;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.405G>C;refseq.codonCoord=135;refseq.end=152014861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_024330;refseq.name2=SLC27A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S135S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-404;refseq.start=152014861;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr1 152191317 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.798A>C;refseq.codonCoord=266;refseq.end=152191317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_181715;refseq.name2=CRTC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P266P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=46;refseq.start=152191317;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 152192702 . T C 175.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=99.00;MQ0=0;OQ=2423.05;QD=16.15;RankSumP=0.170254;SB=-865.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.439A>G;refseq.codonCoord=147;refseq.end=152192702;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_181715;refseq.name2=CRTC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M147V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=152192702;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 152199485 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.688T>G;refseq.codonCoord=230;refseq.end=152199485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1154;refseq.name=NM_014437;refseq.name2=SLC39A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L230V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=370;refseq.start=152199485;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr1 152208138 . C T 276.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=98.82;MQ0=0;OQ=7531.67;QD=17.35;RankSumP=0.0120434;SB=-3041.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.283C>T;refseq.codonCoord=95;refseq.end=152208138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_130898;refseq.name2=CREB3L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P95S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=109;refseq.start=152208138;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr1 152261271 . C T 152.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=99.00;MQ0=0;OQ=1028.24;QD=14.90;RankSumP=0.470616;SB=-192.27;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4471G>A;refseq.codingCoordStr_2=c.4471G>A;refseq.codonCoord_1=1491;refseq.codonCoord_2=1491;refseq.end_1=152261271;refseq.end_2=152261271;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4543;refseq.mrnaCoord_2=4543;refseq.name2_1=NUP210L;refseq.name2_2=NUP210L;refseq.name_1=NM_001159484;refseq.name_2=NM_207308;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1491I;refseq.proteinCoordStr_2=p.V1491I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=152261271;refseq.start_2=152261271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr1 152328606 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2276A>C;refseq.codingCoordStr_2=c.2276A>C;refseq.codonCoord_1=759;refseq.codonCoord_2=759;refseq.end_1=152328606;refseq.end_2=152328606;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2348;refseq.mrnaCoord_2=2348;refseq.name2_1=NUP210L;refseq.name2_2=NUP210L;refseq.name_1=NM_001159484;refseq.name_2=NM_207308;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H759P;refseq.proteinCoordStr_2=p.H759P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.start_1=152328606;refseq.start_2=152328606;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 152375011 . G A 291.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=12331.36;QD=40.97;RankSumP=1.00000;SB=-4788.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.912C>T;refseq.codingCoordStr_2=c.912C>T;refseq.codonCoord_1=304;refseq.codonCoord_2=304;refseq.end_1=152375011;refseq.end_2=152375011;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=984;refseq.name2_1=NUP210L;refseq.name2_2=NUP210L;refseq.name_1=NM_001159484;refseq.name_2=NM_207308;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N304N;refseq.proteinCoordStr_2=p.N304N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=152375011;refseq.start_2=152375011;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr1 152496513 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2421A>C;refseq.codingCoordStr_2=c.2421A>C;refseq.codonCoord_1=807;refseq.codonCoord_2=807;refseq.end_1=152496513;refseq.end_2=152496513;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2527;refseq.mrnaCoord_2=2588;refseq.name2_1=UBAP2L;refseq.name2_2=UBAP2L;refseq.name_1=NM_001127320;refseq.name_2=NM_014847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P807P;refseq.proteinCoordStr_2=p.P807P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=152496513;refseq.start_2=152496513;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 152563398 . T G 36 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.70414e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.724T>G;refseq.codonCoord=242;refseq.end=152563398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_080429;refseq.name2=AQP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.W242G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=17;refseq.start=152563398;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 152576672 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=731;Dels=0.00;HRun=0;HaplotypeScore=18.52;MQ=98.83;MQ0=0;OQ=34583.86;QD=47.31;RankSumP=1.00000;SB=-9763.65;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1062C>G;refseq.codonCoord_2=354;refseq.end_1=152579943;refseq.end_2=152576672;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1242;refseq.name2_1=ATP8B2;refseq.name2_2=ATP8B2;refseq.name_1=NM_020452;refseq.name_2=NM_001005855;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L354L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_2=225;refseq.start_1=152576655;refseq.start_2=152576672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr1 152583777 . C T 351.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.63;MQ0=0;OQ=13237.75;QD=42.02;RankSumP=1.00000;SB=-4255.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2277C>T;refseq.codonCoord=759;refseq.end=152583777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2277;refseq.name=NM_020452;refseq.name2=ATP8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S759S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=37;refseq.start=152583777;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 152668303 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=38.07;MQ=98.63;MQ0=0;OQ=4221.90;QD=16.69;RankSumP=0.433014;SB=-1513.73;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.93G>A;refseq.codingCoordStr_2=c.93G>A;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=152668303;refseq.end_2=152668303;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=530;refseq.name2_1=IL6R;refseq.name2_2=IL6R;refseq.name_1=NM_000565;refseq.name_2=NM_181359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A31A;refseq.proteinCoordStr_2=p.A31A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=152668303;refseq.start_2=152668303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr1 152693594 . A C 127.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.59;MQ0=0;OQ=1304.93;QD=17.63;RankSumP=0.476053;SB=-360.86;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.1073A>C;refseq.codonCoord_2=358;refseq.end_1=152704223;refseq.end_2=152693594;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1510;refseq.name2_1=IL6R;refseq.name2_2=IL6R;refseq.name_1=NM_181359;refseq.name_2=NM_000565;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D358A;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=152689091;refseq.start_2=152693594;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr1 152740755 . C G 247.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=97.13;MQ0=0;OQ=1593.58;QD=19.20;RankSumP=0.0656493;SB=-450.76;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.372G>C;refseq.codonCoord=124;refseq.end=152740755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_001010846;refseq.name2=SHE;refseq.positionType=CDS;refseq.proteinCoordStr=p.R124R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-220;refseq.start=152740755;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr1 152781160 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.406A>C;refseq.codingCoordStr_2=c.406A>C;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=152781160;refseq.end_2=152781160;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1244;refseq.mrnaCoord_2=1244;refseq.name2_1=TDRD10;refseq.name2_2=TDRD10;refseq.name_1=NM_001098475;refseq.name_2=NM_182499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T136P;refseq.proteinCoordStr_2=p.T136P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=152781160;refseq.start_2=152781160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 152783101 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=840;Dels=0.00;HRun=1;HaplotypeScore=13.87;MQ=98.69;MQ0=0;OQ=16493.64;QD=19.64;RankSumP=0.489171;SB=-5074.72;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.542G>A;refseq.codingCoordStr_2=c.542G>A;refseq.codonCoord_1=181;refseq.codonCoord_2=181;refseq.end_1=152783101;refseq.end_2=152783101;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1380;refseq.mrnaCoord_2=1380;refseq.name2_1=TDRD10;refseq.name2_2=TDRD10;refseq.name_1=NM_001098475;refseq.name_2=NM_182499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R181Q;refseq.proteinCoordStr_2=p.R181Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=152783101;refseq.start_2=152783101;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr1 152783195 . T C 296.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=5.94;MQ=98.71;MQ0=0;OQ=8648.65;QD=38.78;RankSumP=1.00000;SB=-1944.43;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.636T>C;refseq.codingCoordStr_2=c.636T>C;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=152783195;refseq.end_2=152783195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1474;refseq.mrnaCoord_2=1474;refseq.name2_1=TDRD10;refseq.name2_2=TDRD10;refseq.name_1=NM_001098475;refseq.name_2=NM_182499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A212A;refseq.proteinCoordStr_2=p.A212A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=152783195;refseq.start_2=152783195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 152794985 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.407T>G;refseq.codonCoord=136;refseq.end=152794985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_017582;refseq.name2=UBE2Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V136G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-26;refseq.start=152794985;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 152808595 . T G 30.49 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=134;Dels=0.00;HRun=2;HaplotypeScore=11.63;MQ=98.55;MQ0=0;QD=0.23;RankSumP=0.00000;SB=179.54;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.98T>G;refseq.codonCoord=33;refseq.end=152808595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_000748;refseq.name2=CHRNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=34;refseq.start=152808595;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 152840591 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=895;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=98.61;MQ0=0;OQ=37294.36;QD=41.67;RankSumP=1.00000;SB=-18127.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.266A>G;refseq.codingCoordStr_2=c.1151A>G;refseq.codingCoordStr_3=c.1151A>G;refseq.codingCoordStr_4=c.1151A>G;refseq.codonCoord_1=89;refseq.codonCoord_2=384;refseq.codonCoord_3=384;refseq.codonCoord_4=384;refseq.end_1=152840591;refseq.end_2=152840591;refseq.end_3=152840591;refseq.end_4=152840591;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1243;refseq.mrnaCoord_2=1351;refseq.mrnaCoord_3=1351;refseq.mrnaCoord_4=1351;refseq.name2_1=ADAR;refseq.name2_2=ADAR;refseq.name2_3=ADAR;refseq.name2_4=ADAR;refseq.name_1=NM_001025107;refseq.name_2=NM_001111;refseq.name_3=NM_015840;refseq.name_4=NM_015841;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K89R;refseq.proteinCoordStr_2=p.K384R;refseq.proteinCoordStr_3=p.K384R;refseq.proteinCoordStr_4=p.K384R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-451;refseq.spliceDist_2=-451;refseq.spliceDist_3=-451;refseq.spliceDist_4=-451;refseq.start_1=152840591;refseq.start_2=152840591;refseq.start_3=152840591;refseq.start_4=152840591;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=soap-filterIngatk GT 1/1 chr1 152841444 . T C 157.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=8.29;MQ=98.83;MQ0=0;OQ=12115.29;QD=35.02;RankSumP=1.00000;SB=-4474.11;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.-588A>G;refseq.codingCoordStr_2=c.298A>G;refseq.codingCoordStr_3=c.298A>G;refseq.codingCoordStr_4=c.298A>G;refseq.codonCoord_2=100;refseq.codonCoord_3=100;refseq.codonCoord_4=100;refseq.end_1=152841444;refseq.end_2=152841444;refseq.end_3=152841444;refseq.end_4=152841444;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=498;refseq.mrnaCoord_3=498;refseq.mrnaCoord_4=498;refseq.name2_1=ADAR;refseq.name2_2=ADAR;refseq.name2_3=ADAR;refseq.name2_4=ADAR;refseq.name_1=NM_001025107;refseq.name_2=NM_001111;refseq.name_3=NM_015840;refseq.name_4=NM_015841;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R100G;refseq.proteinCoordStr_3=p.R100G;refseq.proteinCoordStr_4=p.R100G;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=283;refseq.spliceDist_2=283;refseq.spliceDist_3=283;refseq.spliceDist_4=283;refseq.start_1=152841444;refseq.start_2=152841444;refseq.start_3=152841444;refseq.start_4=152841444;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=Intersection GT 1/1 chr1 152841664 . C T 418.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3227.04;QD=39.84;RankSumP=1.00000;SB=-1300.05;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.-808G>A;refseq.codingCoordStr_2=c.78G>A;refseq.codingCoordStr_3=c.78G>A;refseq.codingCoordStr_4=c.78G>A;refseq.codonCoord_2=26;refseq.codonCoord_3=26;refseq.codonCoord_4=26;refseq.end_1=152841664;refseq.end_2=152841664;refseq.end_3=152841664;refseq.end_4=152841664;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=170;refseq.mrnaCoord_2=278;refseq.mrnaCoord_3=278;refseq.mrnaCoord_4=278;refseq.name2_1=ADAR;refseq.name2_2=ADAR;refseq.name2_3=ADAR;refseq.name2_4=ADAR;refseq.name_1=NM_001025107;refseq.name_2=NM_001111;refseq.name_3=NM_015840;refseq.name_4=NM_015841;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R26R;refseq.proteinCoordStr_3=p.R26R;refseq.proteinCoordStr_4=p.R26R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.spliceDist_4=63;refseq.start_1=152841664;refseq.start_2=152841664;refseq.start_3=152841664;refseq.start_4=152841664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=Intersection GT 1/1 chr1 152972243 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1450T>G;refseq.codingCoordStr_2=c.535T>G;refseq.codonCoord_1=484;refseq.codonCoord_2=179;refseq.end_1=152972243;refseq.end_2=152972243;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1764;refseq.mrnaCoord_2=685;refseq.name2_1=KCNN3;refseq.name2_2=KCNN3;refseq.name_1=NM_002249;refseq.name_2=NM_170782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y484D;refseq.proteinCoordStr_2=p.Y179D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=152972243;refseq.start_2=152972243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr1 153011431 . C G 297.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=9.42;MQ=98.04;MQ0=0;OQ=2471.45;QD=16.81;RankSumP=0.237466;SB=-1037.55;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1092G>C;refseq.codingCoordStr_2=c.177G>C;refseq.codonCoord_1=364;refseq.codonCoord_2=59;refseq.end_1=153011431;refseq.end_2=153011431;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=327;refseq.name2_1=KCNN3;refseq.name2_2=KCNN3;refseq.name_1=NM_002249;refseq.name_2=NM_170782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L364L;refseq.proteinCoordStr_2=p.L59L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=153011431;refseq.start_2=153011431;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr1 153011476 . A G 103.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=7.81;MQ=98.53;MQ0=0;OQ=2105.34;QD=11.89;RankSumP=0.334551;SB=-770.05;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1047T>C;refseq.codingCoordStr_2=c.132T>C;refseq.codonCoord_1=349;refseq.codonCoord_2=44;refseq.end_1=153011476;refseq.end_2=153011476;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1361;refseq.mrnaCoord_2=282;refseq.name2_1=KCNN3;refseq.name2_2=KCNN3;refseq.name_1=NM_002249;refseq.name_2=NM_170782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N349N;refseq.proteinCoordStr_2=p.N44N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=153011476;refseq.start_2=153011476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr1 153185704 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=97.86;MQ0=0;OQ=724.92;QD=12.50;RankSumP=0.00343892;SB=-127.09;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1070G>A;refseq.codonCoord=357;refseq.end=153185704;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_020524;refseq.name2=PBXIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G357D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=200;refseq.start=153185704;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 0/1 chr1 153204859 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.52;MQ0=0;OQ=1092.84;QD=13.33;RankSumP=0.299543;SB=-536.11;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1410C>G;refseq.codingCoordStr_2=c.1077C>G;refseq.codingCoordStr_3=c.1080C>G;refseq.codingCoordStr_4=c.1407C>G;refseq.codonCoord_1=470;refseq.codonCoord_2=359;refseq.codonCoord_3=360;refseq.codonCoord_4=469;refseq.end_1=153204859;refseq.end_2=153204859;refseq.end_3=153204859;refseq.end_4=153204859;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1631;refseq.mrnaCoord_2=1316;refseq.mrnaCoord_3=1319;refseq.mrnaCoord_4=1628;refseq.name2_1=SHC1;refseq.name2_2=SHC1;refseq.name2_3=SHC1;refseq.name2_4=SHC1;refseq.name_1=NM_001130040;refseq.name_2=NM_001130041;refseq.name_3=NM_003029;refseq.name_4=NM_183001;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R470R;refseq.proteinCoordStr_2=p.R359R;refseq.proteinCoordStr_3=p.R360R;refseq.proteinCoordStr_4=p.R469R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.start_1=153204859;refseq.start_2=153204859;refseq.start_3=153204859;refseq.start_4=153204859;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 0/1 chr1 153205286 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.70;MQ0=0;OQ=1972.73;QD=11.21;RankSumP=0.0131940;SB=-367.75;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1228A>G;refseq.codingCoordStr_2=c.898A>G;refseq.codingCoordStr_3=c.898A>G;refseq.codingCoordStr_4=c.1228A>G;refseq.codonCoord_1=410;refseq.codonCoord_2=300;refseq.codonCoord_3=300;refseq.codonCoord_4=410;refseq.end_1=153205286;refseq.end_2=153205286;refseq.end_3=153205286;refseq.end_4=153205286;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1449;refseq.mrnaCoord_2=1137;refseq.mrnaCoord_3=1137;refseq.mrnaCoord_4=1449;refseq.name2_1=SHC1;refseq.name2_2=SHC1;refseq.name2_3=SHC1;refseq.name2_4=SHC1;refseq.name_1=NM_001130040;refseq.name_2=NM_001130041;refseq.name_3=NM_003029;refseq.name_4=NM_183001;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M410V;refseq.proteinCoordStr_2=p.M300V;refseq.proteinCoordStr_3=p.M300V;refseq.proteinCoordStr_4=p.M410V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.spliceDist_4=-25;refseq.start_1=153205286;refseq.start_2=153205286;refseq.start_3=153205286;refseq.start_4=153205286;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 1/0 chr1 153253924 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.164G>T;refseq.codonCoord=55;refseq.end=153253924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_015872;refseq.name2=ZBTB7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C55F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=170;refseq.start=153253924;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr1 153254150 . C T 272.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=3.86;MQ=98.45;MQ0=0;OQ=3979.85;QD=17.38;RankSumP=0.0559707;SB=-1583.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.390C>T;refseq.codonCoord=130;refseq.end=153254150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_015872;refseq.name2=ZBTB7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I130I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=396;refseq.start=153254150;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 153255581 . A G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=8.43;MQ=98.21;MQ0=0;OQ=2082.24;QD=24.50;RankSumP=1.00000;SB=-694.93;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1416A>G;refseq.codonCoord=472;refseq.end=153255581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1574;refseq.name=NM_015872;refseq.name2=ZBTB7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P472P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=262;refseq.start=153255581;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 153262544 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=695.30;QD=15.80;RankSumP=0.199840;SB=-148.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1884C>T;refseq.codonCoord=628;refseq.end=153262544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_144622;refseq.name2=DCST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L628L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=14;refseq.start=153262544;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr1 153270838 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.575T>C;refseq.codonCoord=192;refseq.end=153270838;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_144622;refseq.name2=DCST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L192P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=34;refseq.start=153270838;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr1 153272715 . A G 269.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.90;MQ0=0;OQ=3077.63;QD=18.21;RankSumP=0.143718;SB=-542.63;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.87T>C;refseq.codonCoord=29;refseq.end=153272715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_144622;refseq.name2=DCST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G29G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=167;refseq.start=153272715;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 153273623 . C T 114.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=97.40;MQ0=0;OQ=828.64;QD=17.26;RankSumP=0.145686;SB=-369.36;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.150C>T;refseq.codingCoordStr_2=c.150C>T;refseq.codonCoord_1=50;refseq.codonCoord_2=50;refseq.end_1=153273623;refseq.end_2=153273623;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=246;refseq.mrnaCoord_2=246;refseq.name2_1=DCST1;refseq.name2_2=DCST1;refseq.name_1=NM_001143687;refseq.name_2=NM_152494;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L50L;refseq.proteinCoordStr_2=p.L50L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=153273623;refseq.start_2=153273623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr1 153286334 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.81;MQ0=0;OQ=4735.42;QD=16.79;RankSumP=0.0817218;SB=-973.77;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1459A>C;refseq.codingCoordStr_2=c.1534A>C;refseq.codonCoord_1=487;refseq.codonCoord_2=512;refseq.end_1=153286334;refseq.end_2=153286334;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1555;refseq.mrnaCoord_2=1630;refseq.name2_1=DCST1;refseq.name2_2=DCST1;refseq.name_1=NM_001143687;refseq.name_2=NM_152494;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M487L;refseq.proteinCoordStr_2=p.M512L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=153286334;refseq.start_2=153286334;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr1 153293566 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.56;MQ0=0;OQ=1769.80;QD=11.34;RankSumP=0.105118;SB=-802.49;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.572A>C;refseq.codingCoordStr_2=c.572A>C;refseq.codingCoordStr_3=c.572A>C;refseq.codingCoordStr_4=c.572A>C;refseq.codingCoordStr_5=c.572A>C;refseq.codingCoordStr_6=c.572A>C;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.codonCoord_4=191;refseq.codonCoord_5=191;refseq.codonCoord_6=191;refseq.end_1=153293566;refseq.end_2=153293566;refseq.end_3=153293566;refseq.end_4=153293566;refseq.end_5=153293566;refseq.end_6=153293566;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=673;refseq.mrnaCoord_3=673;refseq.mrnaCoord_4=673;refseq.mrnaCoord_5=673;refseq.mrnaCoord_6=673;refseq.name2_1=ADAM15;refseq.name2_2=ADAM15;refseq.name2_3=ADAM15;refseq.name2_4=ADAM15;refseq.name2_5=ADAM15;refseq.name2_6=ADAM15;refseq.name_1=NM_003815;refseq.name_2=NM_207191;refseq.name_3=NM_207194;refseq.name_4=NM_207195;refseq.name_5=NM_207196;refseq.name_6=NM_207197;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.K191T;refseq.proteinCoordStr_2=p.K191T;refseq.proteinCoordStr_3=p.K191T;refseq.proteinCoordStr_4=p.K191T;refseq.proteinCoordStr_5=p.K191T;refseq.proteinCoordStr_6=p.K191T;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.spliceDist_4=-41;refseq.spliceDist_5=-41;refseq.spliceDist_6=-41;refseq.start_1=153293566;refseq.start_2=153293566;refseq.start_3=153293566;refseq.start_4=153293566;refseq.start_5=153293566;refseq.start_6=153293566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;refseq.variantCodon_6=ACG;set=Intersection GT 0/1 chr1 153299430 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=216;Dels=0.00;HRun=3;HaplotypeScore=22.58;MQ=98.01;MQ0=0;OQ=128.78;QD=0.60;RankSumP=0.00000;SB=333.08;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.2194A>C;refseq.codingCoordStr_2=c.2194A>C;refseq.codingCoordStr_3=c.2194A>C;refseq.codingCoordStr_4=c.2194A>C;refseq.codingCoordStr_5=c.2194A>C;refseq.codingCoordStr_6=c.2194A>C;refseq.codonCoord_1=732;refseq.codonCoord_2=732;refseq.codonCoord_3=732;refseq.codonCoord_4=732;refseq.codonCoord_5=732;refseq.codonCoord_6=732;refseq.end_1=153299430;refseq.end_2=153299430;refseq.end_3=153299430;refseq.end_4=153299430;refseq.end_5=153299430;refseq.end_6=153299430;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2295;refseq.mrnaCoord_2=2295;refseq.mrnaCoord_3=2295;refseq.mrnaCoord_4=2295;refseq.mrnaCoord_5=2295;refseq.mrnaCoord_6=2295;refseq.name2_1=ADAM15;refseq.name2_2=ADAM15;refseq.name2_3=ADAM15;refseq.name2_4=ADAM15;refseq.name2_5=ADAM15;refseq.name2_6=ADAM15;refseq.name_1=NM_003815;refseq.name_2=NM_207191;refseq.name_3=NM_207194;refseq.name_4=NM_207195;refseq.name_5=NM_207196;refseq.name_6=NM_207197;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T732P;refseq.proteinCoordStr_2=p.T732P;refseq.proteinCoordStr_3=p.T732P;refseq.proteinCoordStr_4=p.T732P;refseq.proteinCoordStr_5=p.T732P;refseq.proteinCoordStr_6=p.T732P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.spliceDist_4=-14;refseq.spliceDist_5=-14;refseq.spliceDist_6=-14;refseq.start_1=153299430;refseq.start_2=153299430;refseq.start_3=153299430;refseq.start_4=153299430;refseq.start_5=153299430;refseq.start_6=153299430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 0/1 chr1 153299932 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=601.41;QD=18.79;RankSumP=0.252811;SB=-43.63;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_2=c.2277G>A;refseq.codingCoordStr_3=c.2277G>A;refseq.codingCoordStr_4=c.2277G>A;refseq.codingCoordStr_5=c.2277G>A;refseq.codingCoordStr_6=c.2277G>A;refseq.codonCoord_2=759;refseq.codonCoord_3=759;refseq.codonCoord_4=759;refseq.codonCoord_5=759;refseq.codonCoord_6=759;refseq.end_1=153301334;refseq.end_2=153299932;refseq.end_3=153299932;refseq.end_4=153299932;refseq.end_5=153299932;refseq.end_6=153299932;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=2378;refseq.mrnaCoord_3=2378;refseq.mrnaCoord_4=2378;refseq.mrnaCoord_5=2378;refseq.mrnaCoord_6=2378;refseq.name2_1=ADAM15;refseq.name2_2=ADAM15;refseq.name2_3=ADAM15;refseq.name2_4=ADAM15;refseq.name2_5=ADAM15;refseq.name2_6=ADAM15;refseq.name_1=NM_207191;refseq.name_2=NM_003815;refseq.name_3=NM_207194;refseq.name_4=NM_207195;refseq.name_5=NM_207196;refseq.name_6=NM_207197;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.K759K;refseq.proteinCoordStr_3=p.K759K;refseq.proteinCoordStr_4=p.K759K;refseq.proteinCoordStr_5=p.K759K;refseq.proteinCoordStr_6=p.K759K;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceDist_5=-1;refseq.spliceDist_6=-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.spliceInfo_5=splice-donor_-1;refseq.spliceInfo_6=splice-donor_-1;refseq.start_1=153299454;refseq.start_2=153299932;refseq.start_3=153299932;refseq.start_4=153299932;refseq.start_5=153299932;refseq.start_6=153299932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;set=Intersection GT 1/0 chr1 153301404 . C A 17 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=95.94;MQ0=0;QD=1.11;RankSumP=0.592657;SB=-27.32;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.2337C>A;refseq.codingCoordStr_2=c.2267C>A;refseq.codingCoordStr_3=c.2412C>A;refseq.codingCoordStr_4=c.2409C>A;refseq.codingCoordStr_5=c.2481C>A;refseq.codingCoordStr_6=c.2484C>A;refseq.codonCoord_1=779;refseq.codonCoord_2=756;refseq.codonCoord_3=804;refseq.codonCoord_4=803;refseq.codonCoord_5=827;refseq.codonCoord_6=828;refseq.end_1=153301404;refseq.end_2=153301404;refseq.end_3=153301404;refseq.end_4=153301404;refseq.end_5=153301404;refseq.end_6=153301404;refseq.frame_1=2;refseq.frame_2=1;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2438;refseq.mrnaCoord_2=2368;refseq.mrnaCoord_3=2513;refseq.mrnaCoord_4=2510;refseq.mrnaCoord_5=2582;refseq.mrnaCoord_6=2585;refseq.name2_1=ADAM15;refseq.name2_2=ADAM15;refseq.name2_3=ADAM15;refseq.name2_4=ADAM15;refseq.name2_5=ADAM15;refseq.name2_6=ADAM15;refseq.name_1=NM_003815;refseq.name_2=NM_207191;refseq.name_3=NM_207194;refseq.name_4=NM_207195;refseq.name_5=NM_207196;refseq.name_6=NM_207197;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G779G;refseq.proteinCoordStr_2=p.A756D;refseq.proteinCoordStr_3=p.G804G;refseq.proteinCoordStr_4=p.G803G;refseq.proteinCoordStr_5=p.G827G;refseq.proteinCoordStr_6=p.G828G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.spliceDist_5=60;refseq.spliceDist_6=60;refseq.start_1=153301404;refseq.start_2=153301404;refseq.start_3=153301404;refseq.start_4=153301404;refseq.start_5=153301404;refseq.start_6=153301404;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Asp;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;refseq.variantCodon_6=GGA;set=FilteredInAll GT 1/0 chr1 153372851 . A T 288.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=98.45;MQ0=0;OQ=5182.20;QD=16.50;RankSumP=0.0632070;SB=-2081.28;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.476A>T;refseq.codingCoordStr_2=c.410A>T;refseq.codonCoord_1=159;refseq.codonCoord_2=137;refseq.end_1=153372851;refseq.end_2=153372851;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=581;refseq.mrnaCoord_2=515;refseq.name2_1=EFNA1;refseq.name2_2=EFNA1;refseq.name_1=NM_004428;refseq.name_2=NM_182685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D159V;refseq.proteinCoordStr_2=p.D137V;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=153372851;refseq.start_2=153372851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr1 153376720 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.177C>A;refseq.codingCoordStr_3=c.342C>A;refseq.codonCoord_2=59;refseq.codonCoord_3=114;refseq.end_1=153377068;refseq.end_2=153376720;refseq.end_3=153376720;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=318;refseq.mrnaCoord_3=442;refseq.name2_1=RAG1AP1;refseq.name2_2=RAG1AP1;refseq.name2_3=RAG1AP1;refseq.name_1=NM_001122839;refseq.name_2=NM_001122837;refseq.name_3=NM_018845;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y59*;refseq.proteinCoordStr_3=p.Y114*;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=153376062;refseq.start_2=153376720;refseq.start_3=153376720;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr1 153416342 . G A 239.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1417.25;QD=18.65;RankSumP=0.0856543;SB=-591.75;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.861G>A;refseq.codonCoord=287;refseq.end=153416342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_025058;refseq.name2=TRIM46;refseq.positionType=CDS;refseq.proteinCoordStr=p.T287T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=48;refseq.start=153416342;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 153426387 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.codingCoordStr_1=c.658A>C;refseq.codingCoordStr_2=c.631A>C;refseq.codingCoordStr_3=c.475A>C;refseq.codingCoordStr_4=c.316A>C;refseq.codingCoordStr_5=c.343A>C;refseq.codingCoordStr_6=c.443A>C;refseq.codingCoordStr_7=c.685A>C;refseq.codonCoord_1=220;refseq.codonCoord_2=211;refseq.codonCoord_3=159;refseq.codonCoord_4=106;refseq.codonCoord_5=115;refseq.codonCoord_6=148;refseq.codonCoord_7=229;refseq.end_1=153426387;refseq.end_2=153426387;refseq.end_3=153426387;refseq.end_4=153426387;refseq.end_5=153426387;refseq.end_6=153426387;refseq.end_7=153426387;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=1;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=697;refseq.mrnaCoord_3=541;refseq.mrnaCoord_4=382;refseq.mrnaCoord_5=409;refseq.mrnaCoord_6=509;refseq.mrnaCoord_7=751;refseq.name2_1=MUC1;refseq.name2_2=MUC1;refseq.name2_3=MUC1;refseq.name2_4=MUC1;refseq.name2_5=MUC1;refseq.name2_6=MUC1;refseq.name2_7=MUC1;refseq.name_1=NM_001018016;refseq.name_2=NM_001018017;refseq.name_3=NM_001044390;refseq.name_4=NM_001044391;refseq.name_5=NM_001044392;refseq.name_6=NM_001044393;refseq.name_7=NM_002456;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T220P;refseq.proteinCoordStr_2=p.T211P;refseq.proteinCoordStr_3=p.T159P;refseq.proteinCoordStr_4=p.T106P;refseq.proteinCoordStr_5=p.T115P;refseq.proteinCoordStr_6=p.H148P;refseq.proteinCoordStr_7=p.T229P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=His;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=CAC;refseq.referenceCodon_7=ACC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.spliceDist_4=-63;refseq.spliceDist_5=-63;refseq.spliceDist_6=-63;refseq.spliceDist_7=-63;refseq.start_1=153426387;refseq.start_2=153426387;refseq.start_3=153426387;refseq.start_4=153426387;refseq.start_5=153426387;refseq.start_6=153426387;refseq.start_7=153426387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;set=FilteredInAll GT 1/0 chr1 153428691 . C T 309.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.44;MQ0=0;OQ=3983.58;QD=21.30;RankSumP=0.239337;SB=-1576.27;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.codingCoordStr_1=c.93G>A;refseq.codingCoordStr_2=c.66G>A;refseq.codingCoordStr_3=c.66G>A;refseq.codingCoordStr_4=c.66G>A;refseq.codingCoordStr_5=c.93G>A;refseq.codingCoordStr_6=c.66G>A;refseq.codingCoordStr_7=c.66G>A;refseq.codonCoord_1=31;refseq.codonCoord_2=22;refseq.codonCoord_3=22;refseq.codonCoord_4=22;refseq.codonCoord_5=31;refseq.codonCoord_6=22;refseq.codonCoord_7=22;refseq.end_1=153428691;refseq.end_2=153428691;refseq.end_3=153428691;refseq.end_4=153428691;refseq.end_5=153428691;refseq.end_6=153428691;refseq.end_7=153428691;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=159;refseq.mrnaCoord_2=132;refseq.mrnaCoord_3=132;refseq.mrnaCoord_4=132;refseq.mrnaCoord_5=159;refseq.mrnaCoord_6=132;refseq.mrnaCoord_7=132;refseq.name2_1=MUC1;refseq.name2_2=MUC1;refseq.name2_3=MUC1;refseq.name2_4=MUC1;refseq.name2_5=MUC1;refseq.name2_6=MUC1;refseq.name2_7=MUC1;refseq.name_1=NM_001018016;refseq.name_2=NM_001018017;refseq.name_3=NM_001044390;refseq.name_4=NM_001044391;refseq.name_5=NM_001044392;refseq.name_6=NM_001044393;refseq.name_7=NM_002456;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T31T;refseq.proteinCoordStr_2=p.T22T;refseq.proteinCoordStr_3=p.T22T;refseq.proteinCoordStr_4=p.T22T;refseq.proteinCoordStr_5=p.T31T;refseq.proteinCoordStr_6=p.T22T;refseq.proteinCoordStr_7=p.T22T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.spliceDist_1=35;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceDist_4=8;refseq.spliceDist_5=35;refseq.spliceDist_6=8;refseq.spliceDist_7=8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.spliceInfo_4=splice-acceptor_8;refseq.spliceInfo_6=splice-acceptor_8;refseq.spliceInfo_7=splice-acceptor_8;refseq.start_1=153428691;refseq.start_2=153428691;refseq.start_3=153428691;refseq.start_4=153428691;refseq.start_5=153428691;refseq.start_6=153428691;refseq.start_7=153428691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;set=Intersection GT 0/1 chr1 153445406 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.81;MQ0=0;OQ=192.20;QD=6.20;RankSumP=0.500000;SB=-17.32;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.187A>T;refseq.codingCoordStr_2=c.187A>T;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=153445406;refseq.end_2=153445406;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=293;refseq.mrnaCoord_2=293;refseq.name2_1=MTX1;refseq.name2_2=MTX1;refseq.name_1=NM_002455;refseq.name_2=NM_198883;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T63S;refseq.proteinCoordStr_2=p.T63S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=293;refseq.spliceDist_2=293;refseq.start_1=153445406;refseq.start_2=153445406;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr1 153493199 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.66410e-08;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.787A>G;refseq.codingCoordStr_2=c.709A>G;refseq.codonCoord_1=263;refseq.codonCoord_2=237;refseq.end_1=153493199;refseq.end_2=153493199;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1040;refseq.mrnaCoord_2=962;refseq.name2_1=SCAMP3;refseq.name2_2=SCAMP3;refseq.name_1=NM_005698;refseq.name_2=NM_052837;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I263V;refseq.proteinCoordStr_2=p.I237V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=153493199;refseq.start_2=153493199;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr1 153496755 . C T 186.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=6.37;MQ=98.47;MQ0=0;OQ=6210.92;QD=16.22;RankSumP=0.0241548;SB=-2471.01;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.378G>A;refseq.codingCoordStr_2=c.300G>A;refseq.codonCoord_1=126;refseq.codonCoord_2=100;refseq.end_1=153496755;refseq.end_2=153496755;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=631;refseq.mrnaCoord_2=553;refseq.name2_1=SCAMP3;refseq.name2_2=SCAMP3;refseq.name_1=NM_005698;refseq.name_2=NM_052837;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G126G;refseq.proteinCoordStr_2=p.G100G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=153496755;refseq.start_2=153496755;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr1 153527007 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=14.50;MQ=98.36;MQ0=0;OQ=2287.10;QD=11.91;RankSumP=0.155190;SB=-380.10;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1705C>A;refseq.codingCoordStr_2=c.1612C>A;refseq.codonCoord_1=569;refseq.codonCoord_2=538;refseq.end_1=153527007;refseq.end_2=153527007;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1744;refseq.mrnaCoord_2=1726;refseq.name2_1=PKLR;refseq.name2_2=PKLR;refseq.name_1=NM_000298;refseq.name_2=NM_181871;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R569R;refseq.proteinCoordStr_2=p.R538R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=153527007;refseq.start_2=153527007;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr1 153560898 . A G 104.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.31;MQ0=0;OQ=1992.20;QD=31.62;RankSumP=1.00000;SB=-88.92;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_3=c.66A>G;refseq.codingCoordStr_4=c.-155A>G;refseq.codonCoord_3=22;refseq.end_1=153561249;refseq.end_2=153561249;refseq.end_3=153560898;refseq.end_4=153560898;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.mrnaCoord_3=547;refseq.mrnaCoord_4=57;refseq.name2_1=RUSC1;refseq.name2_2=RUSC1;refseq.name2_3=RUSC1;refseq.name2_4=RUSC1;refseq.name_1=NM_001105203;refseq.name_2=NM_001105204;refseq.name_3=NM_001105205;refseq.name_4=NM_014328;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=utr5;refseq.proteinCoordStr_3=p.L22L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTA;refseq.spliceDist_3=-62;refseq.spliceDist_4=57;refseq.start_1=153559556;refseq.start_2=153559556;refseq.start_3=153560898;refseq.start_4=153560898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr1 153589180 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7307G>C;refseq.codonCoord=2436;refseq.end=153589180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7787;refseq.name=NM_018489;refseq.name2=ASH1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2436P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-60;refseq.start=153589180;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr1 153674783 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.74381e-09;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5787G>A;refseq.codonCoord=1929;refseq.end=153674783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6267;refseq.name=NM_018489;refseq.name2=ASH1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1929Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-42;refseq.start=153674783;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr1 153675259 . T C 302.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.62;MQ0=0;OQ=9447.50;QD=37.49;RankSumP=1.00000;SB=-4720.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5311A>G;refseq.codonCoord=1771;refseq.end=153675259;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5791;refseq.name=NM_018489;refseq.name2=ASH1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1771A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=225;refseq.start=153675259;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 153757608 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.327A>C;refseq.codonCoord=109;refseq.end=153757608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_018489;refseq.name2=ASH1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R109R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-94;refseq.start=153757608;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr1 153850561 rs3844257 A G 0.42 PASS AC=1;AF=0.50;AN=2;DB;DP=594;Dels=0.00;HRun=0;HaplotypeScore=16.55;MQ=18.35;MQ0=570;OQ=349.47;QD=0.59;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1586A>G;refseq.codonCoord=529;refseq.end=153850561;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1619;refseq.name=NM_018116;refseq.name2=MSTO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K529R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=88;refseq.start=153850561;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=gatk GT:AD:DP:GL:GQ 0/1:459,134:21:-44.55,-6.32,-41.16:99 chr1 153896696 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1767A>C;refseq.codingCoordStr_2=c.1629A>C;refseq.codonCoord_1=589;refseq.codonCoord_2=543;refseq.end_1=153896696;refseq.end_2=153896696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1791;refseq.mrnaCoord_2=1896;refseq.name2_1=YY1AP1;refseq.name2_2=YY1AP1;refseq.name_1=NM_139118;refseq.name_2=NM_139119;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K589N;refseq.proteinCoordStr_2=p.K543N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=633;refseq.spliceDist_2=633;refseq.start_1=153896696;refseq.start_2=153896696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr1 154001636 . T C 303.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=8.36;MQ=98.80;MQ0=0;OQ=5946.86;QD=19.50;RankSumP=0.349631;SB=-954.20;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4252A>G;refseq.codingCoordStr_2=c.4252A>G;refseq.codonCoord_1=1418;refseq.codonCoord_2=1418;refseq.end_1=154001636;refseq.end_2=154001636;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4301;refseq.mrnaCoord_2=4301;refseq.name2_1=GON4L;refseq.name2_2=GON4L;refseq.name_1=NM_001037533;refseq.name_2=NM_032292;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1418V;refseq.proteinCoordStr_2=p.M1418V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-222;refseq.spliceDist_2=-437;refseq.start_1=154001636;refseq.start_2=154001636;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr1 154104489 . G C 90.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.65;MQ0=0;OQ=5433.89;QD=46.84;RankSumP=1.00000;SB=-2476.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.144G>C;refseq.codonCoord=48;refseq.end=154104489;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_152280;refseq.name2=SYT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q48H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=110;refseq.start=154104489;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 154104891 . T C 165.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.58;MQ0=0;OQ=10866.85;QD=35.86;RankSumP=1.00000;SB=-2774.34;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=154104891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_152280;refseq.name2=SYT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.H182H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-316;refseq.start=154104891;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 154105148 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.803T>G;refseq.codonCoord=268;refseq.end=154105148;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_152280;refseq.name2=SYT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V268G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-59;refseq.start=154105148;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 154179110 . T C 96.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=5.75;MQ=98.76;MQ0=0;OQ=2485.51;QD=29.24;RankSumP=1.00000;SB=-677.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.986T>C;refseq.codonCoord=329;refseq.end=154179110;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_181885;refseq.name2=RXFP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L329S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-140;refseq.start=154179110;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 154370916 . G A 178.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=16.09;MQ=98.33;MQ0=0;OQ=4454.42;QD=19.71;RankSumP=0.450168;SB=-912.88;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.612G>A;refseq.codingCoordStr_2=c.612G>A;refseq.codingCoordStr_3=c.612G>A;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.codonCoord_3=204;refseq.end_1=154370916;refseq.end_2=154370916;refseq.end_3=154370916;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=861;refseq.mrnaCoord_2=861;refseq.mrnaCoord_3=861;refseq.name2_1=LMNA;refseq.name2_2=LMNA;refseq.name2_3=LMNA;refseq.name_1=NM_005572;refseq.name_2=NM_170707;refseq.name_3=NM_170708;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L204L;refseq.proteinCoordStr_2=p.L204L;refseq.proteinCoordStr_3=p.L204L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=154370916;refseq.start_2=154370916;refseq.start_3=154370916;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/0 chr1 154374158 . C T 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=93.45;MQ0=0;OQ=136.04;QD=9.07;RankSumP=0.570596;SB=-81.31;SecondBestBaseQ=23;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.1698C>T;refseq.codingCoordStr_3=c.1698C>T;refseq.codonCoord_2=566;refseq.codonCoord_3=566;refseq.end_1=154374892;refseq.end_2=154374158;refseq.end_3=154374158;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1947;refseq.mrnaCoord_3=1947;refseq.name2_1=LMNA;refseq.name2_2=LMNA;refseq.name2_3=LMNA;refseq.name_1=NM_170708;refseq.name_2=NM_005572;refseq.name_3=NM_170707;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H566H;refseq.proteinCoordStr_3=p.H566H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_2=90;refseq.spliceDist_3=-1;refseq.spliceInfo_3=splice-donor_-1;refseq.start_1=154373658;refseq.start_2=154374158;refseq.start_3=154374158;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr1 154394844 . T C 239.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=421;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=98.53;MQ0=0;OQ=8298.70;QD=19.71;RankSumP=0.259108;SB=-2720.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.405T>C;refseq.codonCoord=135;refseq.end=154394844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_022367;refseq.name2=SEMA4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N135N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=42;refseq.start=154394844;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 154412842 . C T 241.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.35;MQ0=0;OQ=1536.40;QD=17.66;RankSumP=0.0923241;SB=-365.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1716C>T;refseq.codonCoord=572;refseq.end=154412842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1913;refseq.name=NM_022367;refseq.name2=SEMA4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P572P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=23;refseq.start=154412842;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 154468797 . A G 307.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=7.72;MQ=98.81;MQ0=0;OQ=9581.30;QD=39.43;RankSumP=1.00000;SB=-4030.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.224A>G;refseq.codonCoord=75;refseq.end=154468797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=247;refseq.name=NM_007221;refseq.name2=PMF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q75R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-44;refseq.start=154468797;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 154472745 . G A 289.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.91;MQ0=0;OQ=3124.70;QD=15.55;RankSumP=0.0667862;SB=-1543.46;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.411G>A;refseq.codonCoord=137;refseq.end=154472745;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_007221;refseq.name2=PMF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M137I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=43;refseq.start=154472745;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 154482369 . G C 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.-106C>G;refseq.codingCoordStr_2=c.213C>G;refseq.codonCoord_2=71;refseq.end_1=154482369;refseq.end_2=154482369;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=511;refseq.mrnaCoord_2=283;refseq.name2_1=PAQR6;refseq.name2_2=PAQR6;refseq.name_1=NM_024897;refseq.name_2=NM_198406;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G71G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-173;refseq.spliceDist_2=34;refseq.start_1=154482369;refseq.start_2=154482369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/1 chr1 154531272 . C T 238.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.73;MQ0=0;OQ=1328.30;QD=17.48;RankSumP=0.467971;SB=-485.49;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.280G>A;refseq.codonCoord=94;refseq.end=154531272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_144580;refseq.name2=C1orf85;refseq.positionType=CDS;refseq.proteinCoordStr=p.V94I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-99;refseq.start=154531272;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 154581080 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=382;Dels=0.00;HRun=4;HaplotypeScore=14.26;MQ=98.78;MQ0=0;OQ=209.88;QD=0.55;RankSumP=0.00000;SB=756.79;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.120A>C;refseq.codonCoord=40;refseq.end=154581080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=480;refseq.name=NM_144627;refseq.name2=C1orf182;refseq.positionType=CDS;refseq.proteinCoordStr=p.P40P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-44;refseq.start=154581080;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 154581121 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=488;Dels=0.00;HRun=1;HaplotypeScore=6.27;MQ=98.92;MQ0=0;OQ=9580.40;QD=19.63;RankSumP=0.241863;SB=-3918.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.161C>T;refseq.codonCoord=54;refseq.end=154581121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_144627;refseq.name2=C1orf182;refseq.positionType=CDS;refseq.proteinCoordStr=p.S54L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=154581121;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 154613755 . G A 253.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=98.65;MQ0=0;OQ=1270.37;QD=16.50;RankSumP=0.278077;SB=-521.56;SecondBestBaseQ=32;refseq.chr=chr1;refseq.end=154613755;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=388;refseq.name=NR_026549;refseq.name2=RHBG;refseq.positionType=non_coding_exon;refseq.spliceDist=40;refseq.start=154613755;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr1 154618323 . G A 346.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=98.73;MQ0=0;OQ=3970.67;QD=17.19;RankSumP=0.246698;SB=-1547.63;SecondBestBaseQ=30;refseq.chr=chr1;refseq.end=154618323;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1104;refseq.name=NR_026549;refseq.name2=RHBG;refseq.positionType=non_coding_exon;refseq.spliceDist=-36;refseq.start=154618323;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr1 154618587 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.chr=chr1;refseq.end=154618587;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1244;refseq.name=NR_026549;refseq.name2=RHBG;refseq.positionType=non_coding_exon;refseq.spliceDist=-30;refseq.start=154618587;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr1 154620991 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=8.37;MQ=95.43;MQ0=0;OQ=2174.83;QD=9.37;RankSumP=0.490456;SB=-796.85;SecondBestBaseQ=33;refseq.chr=chr1;refseq.end=154620991;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1445;refseq.name=NR_026549;refseq.name2=RHBG;refseq.positionType=non_coding_exon;refseq.spliceDist=-26;refseq.start=154620991;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr1 154621018 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr1;refseq.end=154621018;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.name=NR_026549;refseq.name2=RHBG;refseq.positionType=non_coding_intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=154621018;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 154713527 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=20.82;MQ=98.30;MQ0=0;OQ=5768.45;QD=28.56;RankSumP=1.00000;SB=-678.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.756A>G;refseq.codonCoord=252;refseq.end=154713527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_005920;refseq.name2=MEF2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P252P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=92;refseq.start=154713527;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 154717364 . G A 141.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=15.84;MQ=97.67;MQ0=0;OQ=8830.58;QD=35.18;RankSumP=1.00000;SB=-3846.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.282C>T;refseq.codonCoord=94;refseq.end=154717364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_005920;refseq.name2=MEF2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.N94N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=24;refseq.start=154717364;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 154762981 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4817T>G;refseq.codonCoord=1606;refseq.end=154762981;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4892;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1606G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=35;refseq.start=154762981;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 154765380 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4523A>C;refseq.codonCoord=1508;refseq.end=154765380;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4598;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1508S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-49;refseq.start=154765380;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr1 154766593 . T C 84.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=97.68;MQ0=0;OQ=1821.70;QD=28.46;RankSumP=1.00000;SB=-643.42;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4332A>G;refseq.codonCoord=1444;refseq.end=154766593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4407;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1444L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-73;refseq.start=154766593;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 154766636 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4289T>C;refseq.codonCoord=1430;refseq.end=154766636;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4364;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1430P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=98;refseq.start=154766636;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 154780465 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=3.89204e-15;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2462T>G;refseq.codonCoord=821;refseq.end=154780465;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2537;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V821G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=154780465;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 154780874 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2319T>G;refseq.codonCoord=773;refseq.end=154780874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2394;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G773G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=154780874;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 154785003 . G A 176.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=11.20;MQ=98.46;MQ0=0;OQ=9725.09;QD=32.97;RankSumP=1.00000;SB=-3767.60;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1987C>T;refseq.codonCoord=663;refseq.end=154785003;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2062;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R663C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=154785003;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr1 154790713 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=1.26441e-09;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1386C>T;refseq.codonCoord=462;refseq.end=154790713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F462F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-63;refseq.start=154790713;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr1 154793068 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=204;Dels=0.00;HRun=2;HaplotypeScore=23.06;MQ=97.79;MQ0=0;OQ=6110.09;QD=29.95;RankSumP=1.00000;SB=-1986.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1171A>G;refseq.codonCoord=391;refseq.end=154793068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R391G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=42;refseq.start=154793068;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 154797356 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=2.72344e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1123C>A;refseq.codonCoord=375;refseq.end=154797356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q375K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=154797356;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 154799601 . T C 108.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=11.50;MQ=98.66;MQ0=0;OQ=6468.35;QD=36.75;RankSumP=1.00000;SB=-2076.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.747A>G;refseq.codonCoord=249;refseq.end=154799601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q249Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-52;refseq.start=154799601;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 154802845 . G C 376.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.42;MQ0=0;OQ=6040.79;QD=44.42;RankSumP=1.00000;SB=-2894.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.243C>G;refseq.codonCoord=81;refseq.end=154802845;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-40;refseq.start=154802845;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 154802875 . T C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=132;Dels=0.00;HRun=2;HaplotypeScore=2.31;MQ=98.62;MQ0=0;OQ=5208.91;QD=39.46;RankSumP=1.00000;SB=-2539.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.213A>G;refseq.codonCoord=71;refseq.end=154802875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_178229;refseq.name2=IQGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L71L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-70;refseq.start=154802875;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 154828275 . G C 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=96.63;MQ0=0;OQ=719.90;QD=25.71;RankSumP=1.00000;SB=-196.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.55G>C;refseq.codonCoord=19;refseq.end=154828275;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_144772;refseq.name2=APOA1BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V19L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=94;refseq.start=154828275;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 154830350 . A C 347.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.79;MQ0=0;OQ=3583.82;QD=39.38;RankSumP=1.00000;SB=-1455.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.717A>C;refseq.codonCoord=239;refseq.end=154830350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=756;refseq.name=NM_144772;refseq.name2=APOA1BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I239I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=53;refseq.start=154830350;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 154830437 . G A 103.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=2.48;MQ=98.18;MQ0=0;OQ=3506.84;QD=36.15;RankSumP=1.00000;SB=-1388.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.804G>A;refseq.codonCoord=268;refseq.end=154830437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_144772;refseq.name2=APOA1BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E268E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=140;refseq.start=154830437;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 154830476 . C T 317.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=97.73;MQ0=0;OQ=3635.65;QD=40.85;RankSumP=1.00000;SB=-1273.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.843C>T;refseq.codonCoord=281;refseq.end=154830476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_144772;refseq.name2=APOA1BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T281T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=179;refseq.start=154830476;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 154831673 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.153740;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1084T>G;refseq.codingCoordStr_2=c.1069T>G;refseq.codonCoord_1=362;refseq.codonCoord_2=357;refseq.end_1=154831673;refseq.end_2=154831673;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1123;refseq.mrnaCoord_2=1197;refseq.name2_1=GPATCH4;refseq.name2_2=GPATCH4;refseq.name_1=NM_015590;refseq.name_2=NM_182679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F362V;refseq.proteinCoordStr_2=p.F357V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=593;refseq.spliceDist_2=593;refseq.start_1=154831673;refseq.start_2=154831673;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap GT 0/1 chr1 154831675 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00280674;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1082C>G;refseq.codingCoordStr_2=c.1067C>G;refseq.codonCoord_1=361;refseq.codonCoord_2=356;refseq.end_1=154831675;refseq.end_2=154831675;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1121;refseq.mrnaCoord_2=1195;refseq.name2_1=GPATCH4;refseq.name2_2=GPATCH4;refseq.name_1=NM_015590;refseq.name_2=NM_182679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T361S;refseq.proteinCoordStr_2=p.T356S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=591;refseq.spliceDist_2=591;refseq.start_1=154831675;refseq.start_2=154831675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT 0/1 chr1 154831676 . T A 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.508168;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1081A>T;refseq.codingCoordStr_2=c.1066A>T;refseq.codonCoord_1=361;refseq.codonCoord_2=356;refseq.end_1=154831676;refseq.end_2=154831676;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1194;refseq.name2_1=GPATCH4;refseq.name2_2=GPATCH4;refseq.name_1=NM_015590;refseq.name_2=NM_182679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T361S;refseq.proteinCoordStr_2=p.T356S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=590;refseq.spliceDist_2=590;refseq.start_1=154831676;refseq.start_2=154831676;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=soap GT 1/0 chr1 154888876 . G A 217.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=986.95;QD=36.55;RankSumP=1.00000;SB=-479.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1510G>A;refseq.codingCoordStr_2=c.1510G>A;refseq.codonCoord_1=504;refseq.codonCoord_2=504;refseq.end_1=154888876;refseq.end_2=154888876;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1846;refseq.mrnaCoord_2=1846;refseq.name2_1=BCAN;refseq.name2_2=BCAN;refseq.name_1=NM_021948;refseq.name_2=NM_198427;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E504K;refseq.proteinCoordStr_2=p.E504K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=213;refseq.spliceDist_2=213;refseq.start_1=154888876;refseq.start_2=154888876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 154906167 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4437T>G;refseq.codonCoord=1479;refseq.end=154906167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4570;refseq.name=NM_006617;refseq.name2=NES;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1479G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-988;refseq.start=154906167;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 154908161 . C T 366.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.83;MQ0=0;OQ=7784.70;QD=43.01;RankSumP=1.00000;SB=-3592.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2443G>A;refseq.codonCoord=815;refseq.end=154908161;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2576;refseq.name=NM_006617;refseq.name2=NES;refseq.positionType=CDS;refseq.proteinCoordStr=p.V815I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=1461;refseq.start=154908161;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr1 154913292 . A G 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.20;MQ0=0;OQ=598.67;QD=28.51;RankSumP=1.00000;SB=-250.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.389T>C;refseq.codonCoord=130;refseq.end=154913292;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_006617;refseq.name2=NES;refseq.positionType=CDS;refseq.proteinCoordStr=p.V130A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-395;refseq.start=154913292;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 154972217 . G C 309.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.06;MQ0=0;OQ=8818.56;QD=42.60;RankSumP=1.00000;SB=-2510.12;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.713G>C;refseq.codingCoordStr_2=c.1198G>C;refseq.codonCoord_1=238;refseq.codonCoord_2=400;refseq.end_1=154972217;refseq.end_2=154972217;refseq.frame_1=1;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1347;refseq.mrnaCoord_2=1832;refseq.name2_1=C1orf66;refseq.name2_2=C1orf66;refseq.name_1=NM_001142560;refseq.name_2=NM_015997;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R238P;refseq.proteinCoordStr_2=p.V400L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Val;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=154972217;refseq.start_2=154972217;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Leu;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr1 154980136 . C T 229.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.97;MQ0=0;OQ=723.72;QD=38.09;RankSumP=1.00000;SB=-186.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.696G>A;refseq.codingCoordStr_2=c.627G>A;refseq.codingCoordStr_3=c.648G>A;refseq.codonCoord_1=232;refseq.codonCoord_2=209;refseq.codonCoord_3=216;refseq.end_1=154980136;refseq.end_2=154980136;refseq.end_3=154980136;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=781;refseq.mrnaCoord_2=756;refseq.mrnaCoord_3=970;refseq.name2_1=HDGF;refseq.name2_2=HDGF;refseq.name2_3=HDGF;refseq.name_1=NM_001126050;refseq.name_2=NM_001126051;refseq.name_3=NM_004494;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E232E;refseq.proteinCoordStr_2=p.E209E;refseq.proteinCoordStr_3=p.E216E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.spliceDist_3=-69;refseq.start_1=154980136;refseq.start_2=154980136;refseq.start_3=154980136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr1 154980182 . G A 110.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.27;MQ0=0;OQ=507.09;QD=18.78;RankSumP=0.524316;SB=-233.26;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.650C>T;refseq.codingCoordStr_2=c.581C>T;refseq.codingCoordStr_3=c.602C>T;refseq.codonCoord_1=217;refseq.codonCoord_2=194;refseq.codonCoord_3=201;refseq.end_1=154980182;refseq.end_2=154980182;refseq.end_3=154980182;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=924;refseq.name2_1=HDGF;refseq.name2_2=HDGF;refseq.name2_3=HDGF;refseq.name_1=NM_001126050;refseq.name_2=NM_001126051;refseq.name_3=NM_004494;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P217L;refseq.proteinCoordStr_2=p.P194L;refseq.proteinCoordStr_3=p.P201L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.start_1=154980182;refseq.start_2=154980182;refseq.start_3=154980182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/0 chr1 155051606 . T C 272.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=1046.64;QD=33.76;RankSumP=1.00000;SB=-447.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.155A>G;refseq.codingCoordStr_2=c.101A>G;refseq.codingCoordStr_3=c.71A>G;refseq.codingCoordStr_4=c.155A>G;refseq.codingCoordStr_5=c.155A>G;refseq.codonCoord_1=52;refseq.codonCoord_2=34;refseq.codonCoord_3=24;refseq.codonCoord_4=52;refseq.codonCoord_5=52;refseq.end_1=155051606;refseq.end_2=155051606;refseq.end_3=155051606;refseq.end_4=155051606;refseq.end_5=155051606;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=295;refseq.mrnaCoord_2=264;refseq.mrnaCoord_3=174;refseq.mrnaCoord_4=295;refseq.mrnaCoord_5=295;refseq.name2_1=SH2D2A;refseq.name2_2=SH2D2A;refseq.name2_3=SH2D2A;refseq.name2_4=SH2D2A;refseq.name2_5=SH2D2A;refseq.name_1=NM_001161441;refseq.name_2=NM_001161442;refseq.name_3=NM_001161443;refseq.name_4=NM_001161444;refseq.name_5=NM_003975;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N52S;refseq.proteinCoordStr_2=p.N34S;refseq.proteinCoordStr_3=p.N24S;refseq.proteinCoordStr_4=p.N52S;refseq.proteinCoordStr_5=p.N52S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.spliceDist_4=32;refseq.spliceDist_5=32;refseq.start_1=155051606;refseq.start_2=155051606;refseq.start_3=155051606;refseq.start_4=155051606;refseq.start_5=155051606;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;refseq.variantCodon_5=AGC;set=Intersection GT 1/1 chr1 155112857 . G A 231.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=8.05;MQ=98.97;MQ0=0;OQ=4006.66;QD=18.64;RankSumP=0.112603;SB=-1466.40;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1566G>A;refseq.codingCoordStr_2=c.1656G>A;refseq.codingCoordStr_3=c.1674G>A;refseq.codonCoord_1=522;refseq.codonCoord_2=552;refseq.codonCoord_3=558;refseq.end_1=155112857;refseq.end_2=155112857;refseq.end_3=155112857;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1646;refseq.mrnaCoord_2=1712;refseq.mrnaCoord_3=1730;refseq.name2_1=NTRK1;refseq.name2_2=NTRK1;refseq.name2_3=NTRK1;refseq.name_1=NM_001007792;refseq.name_2=NM_001012331;refseq.name_3=NM_002529;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q522Q;refseq.proteinCoordStr_2=p.Q552Q;refseq.proteinCoordStr_3=p.Q558Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=155112857;refseq.start_2=155112857;refseq.start_3=155112857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/0 chr1 155115619 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.76;MQ0=0;OQ=370.80;QD=9.27;RankSumP=0.00666331;SB=-3.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1779C>T;refseq.codingCoordStr_2=c.1869C>T;refseq.codingCoordStr_3=c.1887C>T;refseq.codonCoord_1=593;refseq.codonCoord_2=623;refseq.codonCoord_3=629;refseq.end_1=155115619;refseq.end_2=155115619;refseq.end_3=155115619;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1859;refseq.mrnaCoord_2=1925;refseq.mrnaCoord_3=1943;refseq.name2_1=NTRK1;refseq.name2_2=NTRK1;refseq.name2_3=NTRK1;refseq.name_1=NM_001007792;refseq.name_2=NM_001012331;refseq.name_3=NM_002529;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A593A;refseq.proteinCoordStr_2=p.A623A;refseq.proteinCoordStr_3=p.A629A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.start_1=155115619;refseq.start_2=155115619;refseq.start_3=155115619;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=filterInsoap-gatk GT 0/1 chr1 155116416 . T G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.500012;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1940T>G;refseq.codingCoordStr_2=c.2030T>G;refseq.codingCoordStr_3=c.2048T>G;refseq.codonCoord_1=647;refseq.codonCoord_2=677;refseq.codonCoord_3=683;refseq.end_1=155116416;refseq.end_2=155116416;refseq.end_3=155116416;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2020;refseq.mrnaCoord_2=2086;refseq.mrnaCoord_3=2104;refseq.name2_1=NTRK1;refseq.name2_2=NTRK1;refseq.name2_3=NTRK1;refseq.name_1=NM_001007792;refseq.name_2=NM_001012331;refseq.name_3=NM_002529;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V647G;refseq.proteinCoordStr_2=p.V677G;refseq.proteinCoordStr_3=p.V683G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=155116416;refseq.start_2=155116416;refseq.start_3=155116416;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=soap GT 1/0 chr1 155140351 . G A 154.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=10.84;MQ=98.73;MQ0=0;OQ=3140.01;QD=14.27;RankSumP=0.0684033;SB=-449.40;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9G>A;refseq.codonCoord=3;refseq.end=155140351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=18;refseq.start=155140351;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr1 155144081 . T C 275.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=7.22;MQ=98.70;MQ0=0;OQ=6830.92;QD=38.59;RankSumP=1.00000;SB=-2516.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.700T>C;refseq.codonCoord=234;refseq.end=155144081;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S234P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=56;refseq.start=155144081;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 155144421 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=93.76;MQ0=0;OQ=350.73;QD=15.94;RankSumP=0.695329;SB=-105.12;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.856C>A;refseq.codonCoord=286;refseq.end=155144421;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=972;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R286R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-47;refseq.start=155144421;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 155145155 . T C 11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.39;MQ0=0;OQ=56.11;QD=5.61;RankSumP=0.428571;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1200T>C;refseq.codonCoord=400;refseq.end=155145155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1316;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H400H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=85;refseq.start=155145155;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/0 chr1 155145361 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=395;Dels=0.00;HRun=2;HaplotypeScore=7.16;MQ=98.63;MQ0=0;OQ=6981.45;QD=17.67;RankSumP=0.287081;SB=-2616.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1320T>C;refseq.codonCoord=440;refseq.end=155145361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1436;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P440P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=30;refseq.start=155145361;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 155146204 . C T 206.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.01;MQ0=0;OQ=1692.24;QD=14.10;RankSumP=0.365698;SB=-718.24;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1449C>T;refseq.codonCoord=483;refseq.end=155146204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1565;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P483P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=38;refseq.start=155146204;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 155149620 . G C 40.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=473;Dels=0.00;HRun=2;HaplotypeScore=18.13;MQ=98.82;MQ0=0;OQ=9493.69;QD=20.07;RankSumP=0.00000;SB=-2437.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2433G>C;refseq.codonCoord=811;refseq.end=155149620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2549;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P811P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=11;refseq.start=155149620;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 0/1 chr1 155149839 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=5.98;MQ=99.00;MQ0=0;OQ=397.16;QD=8.63;RankSumP=0.507665;SB=-155.80;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2544C>A;refseq.codonCoord=848;refseq.end=155149839;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2660;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N848K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=33;refseq.start=155149839;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr1 155151135 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3035A>C;refseq.codonCoord=1012;refseq.end=155151135;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3151;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1012T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=73;refseq.start=155151135;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 155151208 . C T 174.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.05;MQ=98.38;MQ0=0;OQ=2301.28;QD=15.76;RankSumP=0.0325081;SB=-764.25;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3108C>T;refseq.codonCoord=1036;refseq.end=155151208;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3224;refseq.name=NM_001080471;refseq.name2=PEAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1036D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=146;refseq.start=155151208;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 155173705 . T C 184.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.41;MQ0=0;OQ=2050.17;QD=14.64;RankSumP=0.135353;SB=-985.23;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4280A>G;refseq.codingCoordStr_2=c.4400A>G;refseq.codonCoord_1=1427;refseq.codonCoord_2=1467;refseq.end_1=155173705;refseq.end_2=155173705;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5320;refseq.mrnaCoord_2=5440;refseq.name2_1=ARHGEF11;refseq.name2_2=ARHGEF11;refseq.name_1=NM_014784;refseq.name_2=NM_198236;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1427R;refseq.proteinCoordStr_2=p.H1467R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=155173705;refseq.start_2=155173705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr1 155176319 . G A 191.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.02;MQ0=0;OQ=2510.66;QD=13.79;RankSumP=0.475792;SB=-1178.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3621C>T;refseq.codingCoordStr_2=c.3741C>T;refseq.codonCoord_1=1207;refseq.codonCoord_2=1247;refseq.end_1=155176319;refseq.end_2=155176319;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4661;refseq.mrnaCoord_2=4781;refseq.name2_1=ARHGEF11;refseq.name2_2=ARHGEF11;refseq.name_1=NM_014784;refseq.name_2=NM_198236;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1207N;refseq.proteinCoordStr_2=p.N1247N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=155176319;refseq.start_2=155176319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr1 155329320 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=687.57;QD=14.63;RankSumP=0.750000;SB=-224.48;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.831C>A;refseq.codonCoord=277;refseq.end=155329320;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_001004341;refseq.name2=ETV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L277L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=224;refseq.start=155329320;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr1 155335157 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=98.86;MQ0=0;OQ=1174.51;QD=11.40;RankSumP=0.368815;SB=-237.67;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.451C>T;refseq.codonCoord=151;refseq.end=155335157;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_001004341;refseq.name2=ETV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R151W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-36;refseq.start=155335157;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 155775506 . C T 291.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=95.91;MQ0=0;OQ=4131.73;QD=33.59;RankSumP=1.00000;SB=-1785.65;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1396G>A;refseq.codonCoord=466;refseq.end=155775506;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1554;refseq.name=NM_031281;refseq.name2=FCRL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V466I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=155775506;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 155775649 . C T 304.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=98.31;MQ0=0;OQ=10398.04;QD=41.76;RankSumP=1.00000;SB=-4858.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1253G>A;refseq.codonCoord=418;refseq.end=155775649;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_031281;refseq.name2=FCRL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G418D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=130;refseq.start=155775649;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 155780721 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=601;Dels=0.00;HRun=0;HaplotypeScore=13.31;MQ=98.78;MQ0=0;OQ=25259.80;QD=42.03;RankSumP=1.00000;SB=-10580.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.799T>C;refseq.codonCoord=267;refseq.end=155780721;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_031281;refseq.name2=FCRL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y267H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-46;refseq.start=155780721;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 155824325 . G A 389.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=2311.08;QD=42.02;RankSumP=1.00000;SB=-1065.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.516C>T;refseq.codonCoord=172;refseq.end=155824325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_031282;refseq.name2=FCRL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D172D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-47;refseq.start=155824325;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 155825746 . C T 361.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.40;MQ0=0;OQ=9443.49;QD=42.54;RankSumP=1.00000;SB=-3839.28;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.179G>A;refseq.codonCoord=60;refseq.end=155825746;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_031282;refseq.name2=FCRL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R60Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=127;refseq.start=155825746;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 156004025 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr1;refseq.end=156004817;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_030764;refseq.name2=FCRL2;refseq.positionType=intron;refseq.start=156003934;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr1 156038504 . C T 322.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.55;MQ0=0;OQ=6664.53;QD=39.91;RankSumP=1.00000;SB=-3287.32;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.711G>A;refseq.codingCoordStr_2=c.711G>A;refseq.codingCoordStr_3=c.711G>A;refseq.codonCoord_1=237;refseq.codonCoord_2=237;refseq.codonCoord_3=237;refseq.end_1=156038504;refseq.end_2=156038504;refseq.end_3=156038504;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=824;refseq.mrnaCoord_2=824;refseq.mrnaCoord_3=824;refseq.name2_1=FCRL1;refseq.name2_2=FCRL1;refseq.name2_3=FCRL1;refseq.name_1=NM_001159397;refseq.name_2=NM_001159398;refseq.name_3=NM_052938;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P237P;refseq.proteinCoordStr_2=p.P237P;refseq.proteinCoordStr_3=p.P237P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=104;refseq.spliceDist_2=104;refseq.spliceDist_3=104;refseq.start_1=156038504;refseq.start_2=156038504;refseq.start_3=156038504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr1 156039006 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.392T>G;refseq.codingCoordStr_2=c.392T>G;refseq.codingCoordStr_3=c.392T>G;refseq.codonCoord_1=131;refseq.codonCoord_2=131;refseq.codonCoord_3=131;refseq.end_1=156039006;refseq.end_2=156039006;refseq.end_3=156039006;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=505;refseq.mrnaCoord_2=505;refseq.mrnaCoord_3=505;refseq.name2_1=FCRL1;refseq.name2_2=FCRL1;refseq.name2_3=FCRL1;refseq.name_1=NM_001159397;refseq.name_2=NM_001159398;refseq.name_3=NM_052938;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V131G;refseq.proteinCoordStr_2=p.V131G;refseq.proteinCoordStr_3=p.V131G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.start_1=156039006;refseq.start_2=156039006;refseq.start_3=156039006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr1 156043523 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.45A>C;refseq.codingCoordStr_2=c.45A>C;refseq.codingCoordStr_3=c.45A>C;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.end_1=156043523;refseq.end_2=156043523;refseq.end_3=156043523;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=158;refseq.mrnaCoord_2=158;refseq.mrnaCoord_3=158;refseq.name2_1=FCRL1;refseq.name2_2=FCRL1;refseq.name2_3=FCRL1;refseq.name_1=NM_001159397;refseq.name_2=NM_001159398;refseq.name_3=NM_052938;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E15D;refseq.proteinCoordStr_2=p.E15D;refseq.proteinCoordStr_3=p.E15D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=156043523;refseq.start_2=156043523;refseq.start_3=156043523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=FilteredInAll GT 1/0 chr1 156324234 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.727A>C;refseq.codonCoord=243;refseq.end=156324234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1131;refseq.name=NM_018240;refseq.name2=KIRREL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T243P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-41;refseq.start=156324234;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 156331454 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=126;Dels=0.00;HRun=2;HaplotypeScore=16.31;MQ=98.52;MQ0=0;OQ=60.37;QD=0.48;RankSumP=0.00000;SB=179.59;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2194A>C;refseq.codonCoord=732;refseq.end=156331454;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2598;refseq.name=NM_018240;refseq.name2=KIRREL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T732P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=397;refseq.start=156331454;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 156656841 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.440C>G;refseq.codonCoord=147;refseq.end=156656841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001004476;refseq.name2=OR10K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A147G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=440;refseq.start=156656841;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 156702415 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.440C>G;refseq.codonCoord=147;refseq.end=156702415;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001004473;refseq.name2=OR10K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A147G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=440;refseq.start=156702415;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 156717172 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.881T>G;refseq.codonCoord=294;refseq.end=156717172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_001004472;refseq.name2=OR10R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V294G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-128;refseq.start=156717172;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 156784135 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.385G>T;refseq.codonCoord=129;refseq.end=156784135;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_001005189;refseq.name2=OR6Y1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V129L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=385;refseq.start=156784135;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr1 156815412 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=468;Dels=0.00;HRun=1;HaplotypeScore=15.72;MQ=98.97;MQ0=0;OQ=9724.04;QD=20.78;RankSumP=0.479571;SB=-2628.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.902T>C;refseq.codonCoord=301;refseq.end=156815412;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_001004477;refseq.name2=OR10X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I301T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-80;refseq.start=156815412;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 156843791 rs2427808 A T 20.39 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.51;MQ0=0;OQ=151.97;QD=12.66;SB=-6.99;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.939A>T;refseq.codonCoord=313;refseq.end=156843791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_001004478;refseq.name2=OR10Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G313G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=156843791;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=gatk GT:AD:DP:GL:GQ 0/1:7,5:12:-22.09,-3.61,-27.63:99 chr1 156886352 . A C 298.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.12;MQ0=0;OQ=4039.77;QD=41.22;RankSumP=1.00000;SB=-1039.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3487T>G;refseq.codonCoord=1163;refseq.end=156886352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3686;refseq.name=NM_003126;refseq.name2=SPTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1163A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=156886352;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 156910990 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=148;Dels=0.00;HRun=2;HaplotypeScore=9.94;MQ=98.61;MQ0=0;OQ=143.21;QD=0.97;RankSumP=0.00000;SB=203.67;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1212T>G;refseq.codonCoord=404;refseq.end=156910990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_003126;refseq.name2=SPTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G404G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-37;refseq.start=156910990;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 156914119 . A T 434.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=5321.44;QD=40.62;RankSumP=1.00000;SB=-1816.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.942T>A;refseq.codonCoord=314;refseq.end=156914119;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_003126;refseq.name2=SPTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A314A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-16;refseq.start=156914119;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 156921660 . G A 232.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=98.77;MQ0=0;OQ=11799.69;QD=42.91;RankSumP=1.00000;SB=-3483.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.126C>T;refseq.codonCoord=42;refseq.end=156921660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_003126;refseq.name2=SPTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V42V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=102;refseq.start=156921660;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr1 156936844 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=2.53638e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.223A>C;refseq.codonCoord=75;refseq.end=156936844;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_001005279;refseq.name2=OR6K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T75P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=223;refseq.start=156936844;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 157002219 . C T 332.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.69;MQ0=0;OQ=11604.05;QD=41.74;RankSumP=1.00000;SB=-4566.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.878G>A;refseq.codonCoord=293;refseq.end=157002219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R293H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-62;refseq.start=157002219;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 157002315 . T C 300.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.24;MQ0=0;OQ=4317.40;QD=37.22;RankSumP=1.00000;SB=-1704.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.782A>G;refseq.codonCoord=261;refseq.end=157002315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q261R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-158;refseq.start=157002315;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 157002364 . A G 325.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.68;MQ0=0;OQ=3850.34;QD=41.40;RankSumP=1.00000;SB=-1773.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.733T>C;refseq.codonCoord=245;refseq.end=157002364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F245L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-207;refseq.start=157002364;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 157002516 . A G 382.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1537.03;QD=39.41;RankSumP=1.00000;SB=-756.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.581T>C;refseq.codonCoord=194;refseq.end=157002516;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I194T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-359;refseq.start=157002516;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 157002839 . G A 297.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=10519.70;QD=42.08;RankSumP=1.00000;SB=-3837.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=157002839;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=258;refseq.start=157002839;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr1 157003069 . C T 136.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=6.93;MQ=98.72;MQ0=0;OQ=3942.90;QD=42.86;RankSumP=1.00000;SB=-1131.98;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.28G>A;refseq.codonCoord=10;refseq.end=157003069;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=28;refseq.name=NM_001005185;refseq.name2=OR6N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A10T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=28;refseq.start=157003069;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 157080443 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.20;MQ0=0;OQ=3894.96;QD=37.09;RankSumP=1.00000;SB=-1321.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.477A>G;refseq.codonCoord=159;refseq.end=157080443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_002432;refseq.name2=MNDA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P159P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=75;refseq.start=157080443;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 157082029 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=247;Dels=0.00;HRun=2;HaplotypeScore=19.39;MQ=98.53;MQ0=0;OQ=118.91;QD=0.48;RankSumP=0.00000;SB=263.87;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.599T>G;refseq.codonCoord=200;refseq.end=157082029;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=799;refseq.name=NM_002432;refseq.name2=MNDA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=157082029;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 157178545 . C A 22.13 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=194;Dels=0.00;HRun=1;HaplotypeScore=11.20;MQ=97.93;MQ0=0;QD=0.11;RankSumP=0.00000;SB=293.87;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.734C>A;refseq.codingCoordStr_2=c.707C>A;refseq.codingCoordStr_3=c.734C>A;refseq.codingCoordStr_4=c.707C>A;refseq.codonCoord_1=245;refseq.codonCoord_2=236;refseq.codonCoord_3=245;refseq.codonCoord_4=236;refseq.end_1=157178545;refseq.end_2=157178545;refseq.end_3=157178545;refseq.end_4=157178545;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=979;refseq.mrnaCoord_2=952;refseq.mrnaCoord_3=979;refseq.mrnaCoord_4=952;refseq.name2_1=PYHIN1;refseq.name2_2=PYHIN1;refseq.name2_3=PYHIN1;refseq.name2_4=PYHIN1;refseq.name_1=NM_152501;refseq.name_2=NM_198928;refseq.name_3=NM_198929;refseq.name_4=NM_198930;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T245K;refseq.proteinCoordStr_2=p.T236K;refseq.proteinCoordStr_3=p.T245K;refseq.proteinCoordStr_4=p.T236K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=155;refseq.spliceDist_2=155;refseq.spliceDist_3=155;refseq.spliceDist_4=155;refseq.start_1=157178545;refseq.start_2=157178545;refseq.start_3=157178545;refseq.start_4=157178545;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=FilteredInAll GT 1/0 chr1 157253101 . G C 178.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=431;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.78;MQ0=0;OQ=10388.32;QD=24.10;RankSumP=0.212251;SB=-3669.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.536G>C;refseq.codonCoord=179;refseq.end=157253101;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_005531;refseq.name2=IFI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S179T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-14;refseq.start=157253101;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 157254894 . T C 133.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=98.98;MQ0=0;OQ=2221.90;QD=15.22;RankSumP=0.229671;SB=-911.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.801T>C;refseq.codonCoord=267;refseq.end=157254894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1091;refseq.name=NM_005531;refseq.name2=IFI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y267Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-172;refseq.start=157254894;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr1 157269001 . C A 280.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.52;MQ0=0;OQ=3973.32;QD=16.84;RankSumP=0.00745220;SB=-1074.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1225C>A;refseq.codonCoord=409;refseq.end=157269001;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_005531;refseq.name2=IFI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R409S;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=64;refseq.start=157269001;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/0 chr1 157269013 . T A 233.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=6.26;MQ=98.52;MQ0=0;OQ=4776.52;QD=17.24;RankSumP=0.305142;SB=-1094.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1237T>A;refseq.codonCoord=413;refseq.end=157269013;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1527;refseq.name=NM_005531;refseq.name2=IFI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y413N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=76;refseq.start=157269013;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 157288130 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=85;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1531.33;QD=18.02;RankSumP=0.300915;SB=-238.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1535C>T;refseq.codonCoord=512;refseq.end=157288130;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1825;refseq.name=NM_005531;refseq.name2=IFI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S512F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=38;refseq.start=157288130;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 157428390 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.129T>G;refseq.codingCoordStr_2=c.231T>G;refseq.codonCoord_1=43;refseq.codonCoord_2=77;refseq.end_1=157428390;refseq.end_2=157428390;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=271;refseq.mrnaCoord_2=410;refseq.name2_1=CADM3;refseq.name2_2=CADM3;refseq.name_1=NM_001127173;refseq.name_2=NM_021189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G43G;refseq.proteinCoordStr_2=p.G77G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=157428390;refseq.start_2=157428390;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 157436265 . T C 158.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.96;MQ0=0;OQ=2764.01;QD=13.48;RankSumP=0.380602;SB=-435.58;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1053T>C;refseq.codingCoordStr_2=c.1155T>C;refseq.codonCoord_1=351;refseq.codonCoord_2=385;refseq.end_1=157436265;refseq.end_2=157436265;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1195;refseq.mrnaCoord_2=1334;refseq.name2_1=CADM3;refseq.name2_2=CADM3;refseq.name_1=NM_001127173;refseq.name_2=NM_021189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L351L;refseq.proteinCoordStr_2=p.L385L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=157436265;refseq.start_2=157436265;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr1 157441978 . G A 296.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=11.21;MQ=98.82;MQ0=0;OQ=3839.13;QD=18.28;RankSumP=0.257551;SB=-1064.14;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.131G>A;refseq.codingCoordStr_2=c.125G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=42;refseq.end_1=157441978;refseq.end_2=157441978;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=154;refseq.mrnaCoord_2=365;refseq.name2_1=DARC;refseq.name2_2=DARC;refseq.name_1=NM_001122951;refseq.name_2=NM_002036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G44D;refseq.proteinCoordStr_2=p.G42D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=154;refseq.spliceDist_2=104;refseq.start_1=157441978;refseq.start_2=157441978;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr1 157544185 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=9.41725e-07;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.613C>A;refseq.codonCoord=205;refseq.end=157544185;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_002001;refseq.name2=FCER1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q205K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=24;refseq.start=157544185;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr1 157676358 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=611;Dels=0.00;HRun=1;HaplotypeScore=18.95;MQ=98.87;MQ0=0;OQ=23408.70;QD=38.31;RankSumP=1.00000;SB=-8420.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.186G>T;refseq.codonCoord=62;refseq.end=157676358;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_012351;refseq.name2=OR10J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M62I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=223;refseq.start=157676358;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr1 157676481 . A G 315.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=12.58;MQ=98.41;MQ0=0;OQ=4518.18;QD=17.38;RankSumP=0.158016;SB=-1680.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.309A>G;refseq.codonCoord=103;refseq.end=157676481;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_012351;refseq.name2=OR10J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I103M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=346;refseq.start=157676481;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 157676494 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.322T>G;refseq.codonCoord=108;refseq.end=157676494;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_012351;refseq.name2=OR10J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C108G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=359;refseq.start=157676494;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 157676964 . T A 329.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.90;MQ0=0;OQ=8037.67;QD=19.80;RankSumP=0.115983;SB=-2490.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.792T>A;refseq.codonCoord=264;refseq.end=157676964;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_012351;refseq.name2=OR10J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C264*;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-260;refseq.start=157676964;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chr1 157771725 . G A 243.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.84;MQ0=0;OQ=6039.13;QD=19.87;RankSumP=0.336942;SB=-1963.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.697C>T;refseq.codonCoord=233;refseq.end=157771725;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_001004469;refseq.name2=OR10J5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R233W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-234;refseq.start=157771725;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr1 157771921 . C T 302.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=11.87;MQ=98.85;MQ0=0;OQ=7937.72;QD=16.50;RankSumP=0.439443;SB=-2367.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.501G>A;refseq.codonCoord=167;refseq.end=157771921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_001004469;refseq.name2=OR10J5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P167P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-430;refseq.start=157771921;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 157825040 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.590T>C;refseq.codonCoord=197;refseq.end=157825040;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=686;refseq.name=NM_001639;refseq.name2=APCS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L197P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-245;refseq.start=157825040;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 157950869 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.31A>C;refseq.codonCoord=11;refseq.end=157950869;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_000567;refseq.name2=CRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T11P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-31;refseq.start=157950869;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 158044651 . C T 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.486122;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.112C>T;refseq.codonCoord=38;refseq.end=158044651;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_001004310;refseq.name2=FCRL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R38*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=60;refseq.start=158044651;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 0/1 chr1 158045534 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=135;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=91.69;MQ0=0;OQ=2399.18;QD=17.77;RankSumP=0.0525050;SB=-1046.61;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.479G>A;refseq.codonCoord=160;refseq.end=158045534;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_001004310;refseq.name2=FCRL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G160D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-126;refseq.start=158045534;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 158045607 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=4;HaplotypeScore=2.69;MQ=91.67;MQ0=4;OQ=457.17;QD=9.14;RankSumP=0.622011;SB=-240.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.552T>C;refseq.codonCoord=184;refseq.end=158045607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_001004310;refseq.name2=FCRL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P184P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-53;refseq.start=158045607;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr1 158052037 . C T 189.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.90;MQ0=0;OQ=4282.89;QD=20.49;RankSumP=0.368540;SB=-1285.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1267C>T;refseq.codonCoord=423;refseq.end=158052037;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1309;refseq.name=NM_001004310;refseq.name2=FCRL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q423*;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=88;refseq.start=158052037;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 0/1 chr1 158052049 . A G 243.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=3.26;MQ=98.76;MQ0=0;OQ=3212.69;QD=16.06;RankSumP=0.495406;SB=-1392.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1279A>G;refseq.codonCoord=427;refseq.end=158052049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_001004310;refseq.name2=FCRL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S427G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=100;refseq.start=158052049;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 158109547 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.08517e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1388A>G;refseq.codonCoord=463;refseq.end=158109547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1406;refseq.name=NM_012337;refseq.name2=CCDC19;refseq.positionType=CDS;refseq.proteinCoordStr=p.E463G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=158109547;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 158120875 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=592;Dels=0.00;HRun=2;HaplotypeScore=7.89;MQ=98.91;MQ0=0;OQ=11661.96;QD=19.70;RankSumP=0.171101;SB=-3937.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.872A>G;refseq.codonCoord=291;refseq.end=158120875;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_012337;refseq.name2=CCDC19;refseq.positionType=CDS;refseq.proteinCoordStr=p.E291G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-26;refseq.start=158120875;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 158164724 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=96.65;MQ0=0;OQ=556.05;QD=14.63;RankSumP=0.196972;SB=-237.62;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3078T>C;refseq.codingCoordStr_2=c.3030T>C;refseq.codonCoord_1=1026;refseq.codonCoord_2=1010;refseq.end_1=158164724;refseq.end_2=158164724;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3276;refseq.mrnaCoord_2=3228;refseq.name2_1=IGSF9;refseq.name2_2=IGSF9;refseq.name_1=NM_001135050;refseq.name_2=NM_020789;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1026S;refseq.proteinCoordStr_2=p.S1010S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-153;refseq.spliceDist_2=-153;refseq.start_1=158164724;refseq.start_2=158164724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr1 158172873 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.613A>C;refseq.codingCoordStr_2=c.613A>C;refseq.codonCoord_1=205;refseq.codonCoord_2=205;refseq.end_1=158172873;refseq.end_2=158172873;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=811;refseq.name2_1=IGSF9;refseq.name2_2=IGSF9;refseq.name_1=NM_001135050;refseq.name_2=NM_020789;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T205P;refseq.proteinCoordStr_2=p.T205P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=158172873;refseq.start_2=158172873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 158189735 . T G 252.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=98.89;MQ0=0;OQ=18312.47;QD=40.69;RankSumP=1.00000;SB=-5978.36;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.379A>C;refseq.codingCoordStr_3=c.379A>C;refseq.codonCoord_2=127;refseq.codonCoord_3=127;refseq.end_1=158189848;refseq.end_2=158189735;refseq.end_3=158189735;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=496;refseq.mrnaCoord_3=496;refseq.name2_1=SLAMF9;refseq.name2_2=SLAMF9;refseq.name2_3=SLAMF9;refseq.name_1=NM_001146173;refseq.name_2=NM_001146172;refseq.name_3=NM_033438;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I127L;refseq.proteinCoordStr_3=p.I127L;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=158188291;refseq.start_2=158189735;refseq.start_3=158189735;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr1 158267059 . A T 109.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=237;Dels=0.00;HRun=1;HaplotypeScore=13.56;MQ=98.57;MQ0=0;OQ=4247.36;QD=17.92;RankSumP=0.187427;SB=-1762.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1095T>A;refseq.codonCoord=365;refseq.end=158267059;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_145167;refseq.name2=PIGM;refseq.positionType=CDS;refseq.proteinCoordStr=p.F365L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=1349;refseq.start=158267059;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr1 158267753 . T G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=5;RankSumP=9.59083e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.401A>C;refseq.codonCoord=134;refseq.end=158267753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_145167;refseq.name2=PIGM;refseq.positionType=CDS;refseq.proteinCoordStr=p.N134T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=655;refseq.start=158267753;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 158328964 . G A 144.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=96.06;MQ0=0;OQ=670.56;QD=18.63;RankSumP=0.436856;SB=-337.88;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1458C>T;refseq.codonCoord=486;refseq.end=158328964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1604;refseq.name=NM_052868;refseq.name2=IGSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D486D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=146;refseq.start=158328964;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 158329096 . C T 258.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.15;MQ0=0;OQ=5624.14;QD=40.46;RankSumP=1.00000;SB=-2752.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1326G>A;refseq.codonCoord=442;refseq.end=158329096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_052868;refseq.name2=IGSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E442E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=14;refseq.start=158329096;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 158329351 . A G 371.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.55;MQ0=0;OQ=2225.62;QD=35.33;RankSumP=1.00000;SB=-1139.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1299T>C;refseq.codonCoord=433;refseq.end=158329351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1445;refseq.name=NM_052868;refseq.name2=IGSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H433H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-14;refseq.start=158329351;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 158371711 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr1;refseq.codingCoordStr=c.2115+2;refseq.end=158371711;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_000702;refseq.name2=ATP1A2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=158371711;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 158391499 . G A 119.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=98.67;MQ0=0;OQ=2053.51;QD=13.08;RankSumP=0.283986;SB=-736.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.248G>A;refseq.codonCoord=83;refseq.end=158391499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=727;refseq.name=NM_144699;refseq.name2=ATP1A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G83D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=41;refseq.start=158391499;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 158400829 . C T 361.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.63;MQ0=0;OQ=1535.02;QD=39.36;RankSumP=1.00000;SB=-519.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1038C>T;refseq.codonCoord=346;refseq.end=158400829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1517;refseq.name=NM_144699;refseq.name2=ATP1A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A346A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=158400829;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 158402974 . G A 263.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=12.40;MQ=86.15;MQ0=35;OQ=5073.55;QD=15.52;RankSumP=0.0293198;SB=-1546.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1080G>A;refseq.codonCoord=360;refseq.end=158402974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1559;refseq.name=NM_144699;refseq.name2=ATP1A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A360A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=33;refseq.start=158402974;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 158407820 . C T 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=2;HaplotypeScore=5.62;MQ=98.90;MQ0=0;OQ=9161.40;QD=43.42;RankSumP=1.00000;SB=-4573.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1647C>T;refseq.codonCoord=549;refseq.end=158407820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2126;refseq.name=NM_144699;refseq.name2=ATP1A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y549Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-35;refseq.start=158407820;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 158412606 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2412A>C;refseq.codonCoord=804;refseq.end=158412606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2891;refseq.name=NM_144699;refseq.name2=ATP1A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I804I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-55;refseq.start=158412606;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr1 158437732 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1133A>G;refseq.codonCoord=378;refseq.end=158437732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1390;refseq.name=NM_001231;refseq.name2=CASQ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E378G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=74;refseq.start=158437732;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 158437755 . A T 22 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.00701145;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1156A>T;refseq.codonCoord=386;refseq.end=158437755;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1413;refseq.name=NM_001231;refseq.name2=CASQ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N386Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=97;refseq.start=158437755;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 0/1 chr1 158476159 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=158;Dels=0.00;HRun=1;HaplotypeScore=61.93;MQ=92.61;MQ0=0;OQ=163.01;QD=1.03;RankSumP=0.00000;SB=98.36;SecondBestBaseQ=7;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_5=c.675G>C;refseq.codonCoord_5=225;refseq.end_1=158476159;refseq.end_2=158476159;refseq.end_3=158476159;refseq.end_4=158476159;refseq.end_5=158476159;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1187;refseq.mrnaCoord_2=1113;refseq.mrnaCoord_3=1187;refseq.mrnaCoord_4=954;refseq.mrnaCoord_5=887;refseq.name2_1=DCAF8;refseq.name2_2=DCAF8;refseq.name2_3=DCAF8;refseq.name2_4=DCAF8;refseq.name2_5=DCAF8;refseq.name_1=NR_028103;refseq.name_2=NR_028104;refseq.name_3=NR_028105;refseq.name_4=NR_028106;refseq.name_5=NM_015726;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.R225R;refseq.referenceAA_5=Arg;refseq.referenceCodon_5=CGG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-523;refseq.spliceDist_4=-523;refseq.spliceDist_5=-49;refseq.start_1=158476159;refseq.start_2=158476159;refseq.start_3=158476159;refseq.start_4=158476159;refseq.start_5=158476159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_5=Arg;refseq.variantCodon_5=CGC;set=FilteredInAll GT 1/0 chr1 158570040 . G A 176.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=8.87;MQ=99.00;MQ0=0;OQ=8712.42;QD=42.92;RankSumP=1.00000;SB=-3776.90;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.363C>T;refseq.codingCoordStr_2=c.363C>T;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=158570040;refseq.end_2=158570040;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=757;refseq.mrnaCoord_2=757;refseq.name2_1=COPA;refseq.name2_2=COPA;refseq.name_1=NM_001098398;refseq.name_2=NM_004371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N121N;refseq.proteinCoordStr_2=p.N121N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=158570040;refseq.start_2=158570040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr1 158579828 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.-244A>C;refseq.codingCoordStr_2=c.-244A>C;refseq.codingCoordStr_3=c.18T>G;refseq.codonCoord_3=6;refseq.end_1=158579828;refseq.end_2=158579828;refseq.end_3=158579828;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=151;refseq.mrnaCoord_2=151;refseq.mrnaCoord_3=142;refseq.name2_1=COPA;refseq.name2_2=COPA;refseq.name2_3=NCSTN;refseq.name_1=NM_001098398;refseq.name_2=NM_004371;refseq.name_3=NM_015331;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G6G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.spliceDist_3=-68;refseq.start_1=158579828;refseq.start_2=158579828;refseq.start_3=158579828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr1 158660529 . A G 122.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.92;MQ0=0;OQ=517.80;QD=21.57;RankSumP=0.424996;SB=-88.35;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1137A>G;refseq.codonCoord=379;refseq.end=158660529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1620;refseq.name=NM_020335;refseq.name2=VANGL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K379K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=64;refseq.start=158660529;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr1 158661561 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=301;Dels=0.00;HRun=2;HaplotypeScore=17.75;MQ=98.84;MQ0=0;OQ=4364.94;QD=14.50;RankSumP=8.32250e-06;SB=-1783.15;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1335A>C;refseq.codonCoord=445;refseq.end=158661561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_020335;refseq.name2=VANGL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G445G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=30;refseq.start=158661561;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 0/1 chr1 158661627 . G A 247.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.71;MQ0=0;OQ=3884.48;QD=18.77;RankSumP=0.276451;SB=-1246.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1401G>A;refseq.codonCoord=467;refseq.end=158661627;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1884;refseq.name=NM_020335;refseq.name2=VANGL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P467P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=96;refseq.start=158661627;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr1 158759594 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.13T>G;refseq.codonCoord=5;refseq.end=158759594;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=73;refseq.name=NM_052931;refseq.name2=SLAMF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F5V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-37;refseq.start=158759594;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr1 158975724 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=158975724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=24;refseq.name=NM_021181;refseq.name2=SLAMF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=24;refseq.start=158975724;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 159050245 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.650A>C;refseq.codonCoord=217;refseq.end=159050245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_002348;refseq.name2=LY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D217A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-81;refseq.start=159050245;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 159050899 . A C 13.67 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=136;Dels=0.00;HRun=3;HaplotypeScore=17.52;MQ=97.90;MQ0=0;QD=0.10;RankSumP=0.00000;SB=164.52;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.796A>C;refseq.codonCoord=266;refseq.end=159050899;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_002348;refseq.name2=LY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T266P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=66;refseq.start=159050899;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 159060066 . A G 232.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=99.00;MQ0=0;OQ=10045.32;QD=38.94;RankSumP=1.00000;SB=-4214.30;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1686A>G;refseq.codonCoord=562;refseq.end=159060066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_002348;refseq.name2=LY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V562V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-145;refseq.start=159060066;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 159060184 . A G 324.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1416.79;QD=38.29;RankSumP=1.00000;SB=-200.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1804A>G;refseq.codonCoord=602;refseq.end=159060184;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1854;refseq.name=NM_002348;refseq.name2=LY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.M602V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-27;refseq.start=159060184;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 159118450 . A T 351.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=10.72;MQ=68.06;MQ0=4;OQ=4332.00;QD=18.59;RankSumP=0.0441705;SB=-1797.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.326T>A;refseq.codonCoord=109;refseq.end=159118450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_017625;refseq.name2=ITLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V109D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-80;refseq.start=159118450;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 159118518 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=18.03;MQ=68.93;MQ0=11;OQ=2872.03;QD=12.43;RankSumP=0.183798;SB=-1297.38;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=159118518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_017625;refseq.name2=ITLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H86H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=101;refseq.start=159118518;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 159186534 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.647G>C;refseq.codonCoord=216;refseq.end=159186534;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_080878;refseq.name2=ITLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G216A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=47;refseq.start=159186534;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 159187590 . C T 236.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=9.35;MQ=77.92;MQ0=28;OQ=4052.78;QD=17.17;RankSumP=0.418590;SB=-1520.70;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.308G>A;refseq.codonCoord=103;refseq.end=159187590;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_080878;refseq.name2=ITLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R103H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=115;refseq.start=159187590;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 159236713 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=84;Dels=0.00;HRun=2;HaplotypeScore=1.92;MQ=98.96;MQ0=0;OQ=1708.62;QD=20.34;RankSumP=0.254804;SB=-518.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.438G>A;refseq.codonCoord=146;refseq.end=159236713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_016946;refseq.name2=F11R;refseq.positionType=CDS;refseq.proteinCoordStr=p.G146G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=50;refseq.start=159236713;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr1 159278555 . T G 63 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=99;Dels=0.00;HRun=3;HaplotypeScore=14.68;MQ=96.62;MQ0=0;OQ=163.84;QD=1.65;RankSumP=4.21977e-08;SB=41.14;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.251A>C;refseq.codingCoordStr_2=c.74A>C;refseq.codonCoord_1=84;refseq.codonCoord_2=25;refseq.end_1=159278555;refseq.end_2=159278555;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=446;refseq.mrnaCoord_2=415;refseq.name2_1=USF1;refseq.name2_2=USF1;refseq.name_1=NM_007122;refseq.name_2=NM_207005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y84S;refseq.proteinCoordStr_2=p.Y25S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=159278555;refseq.start_2=159278555;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr1 159279072 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=2.37734e-05;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.71C>A;refseq.codingCoordStr_2=c.-76C>A;refseq.codonCoord_1=24;refseq.end_1=159279072;refseq.end_2=159279072;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=266;refseq.name2_1=USF1;refseq.name2_2=USF1;refseq.name_1=NM_007122;refseq.name_2=NM_207005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.T24N;refseq.referenceAA_1=Thr;refseq.referenceCodon_1=ACT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=159279072;refseq.start_2=159279072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.uorfChange_2=+1;refseq.variantAA_1=Asn;refseq.variantCodon_1=AAT;set=FilteredInAll GT 0/1 chr1 159285664 . G C 291.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.77;MQ0=0;OQ=1646.25;QD=44.49;RankSumP=1.00000;SB=-678.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1771C>G;refseq.codingCoordStr_2=c.1771C>G;refseq.codonCoord_1=591;refseq.codonCoord_2=591;refseq.end_1=159285664;refseq.end_2=159285664;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2117;refseq.mrnaCoord_2=2117;refseq.name2_1=ARHGAP30;refseq.name2_2=ARHGAP30;refseq.name_1=NM_001025598;refseq.name_2=NM_181720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L591V;refseq.proteinCoordStr_2=p.L591V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=159285664;refseq.start_2=159285664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr1 159335460 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=4;HaplotypeScore=3.47;MQ=99.00;MQ0=0;OQ=1136.70;QD=14.57;RankSumP=0.273258;SB=-593.84;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_3=c.511A>C;refseq.codingCoordStr_4=c.-204A>C;refseq.codingCoordStr_5=c.511A>C;refseq.codonCoord_3=171;refseq.codonCoord_5=171;refseq.end_1=159335460;refseq.end_2=159335460;refseq.end_3=159335460;refseq.end_4=159335460;refseq.end_5=159335460;refseq.frame_3=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=425;refseq.mrnaCoord_3=656;refseq.mrnaCoord_4=422;refseq.mrnaCoord_5=656;refseq.name2_1=KLHDC9;refseq.name2_2=KLHDC9;refseq.name2_3=KLHDC9;refseq.name2_4=KLHDC9;refseq.name2_5=KLHDC9;refseq.name_1=NR_033385;refseq.name_2=NR_033386;refseq.name_3=NM_001007255;refseq.name_4=NM_001007256;refseq.name_5=NM_152366;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr5;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.S171R;refseq.proteinCoordStr_5=p.S171R;refseq.referenceAA_3=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_3=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.spliceDist_4=-17;refseq.spliceDist_5=-17;refseq.start_1=159335460;refseq.start_2=159335460;refseq.start_3=159335460;refseq.start_4=159335460;refseq.start_5=159335460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_3=CGC;refseq.variantCodon_5=CGC;set=Intersection GT 0/1 chr1 159397325 . C T 193.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=98.75;MQ0=0;OQ=2693.25;QD=15.66;RankSumP=0.252870;SB=-1327.81;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.271C>T;refseq.codingCoordStr_2=c.271C>T;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=159397325;refseq.end_2=159397325;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=648;refseq.mrnaCoord_2=507;refseq.name2_1=USP21;refseq.name2_2=USP21;refseq.name_1=NM_001014443;refseq.name_2=NM_012475;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P91S;refseq.proteinCoordStr_2=p.P91S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=292;refseq.spliceDist_2=292;refseq.start_1=159397325;refseq.start_2=159397325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr1 159429661 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=354.67;QD=10.75;RankSumP=0.306434;SB=-198.95;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1877A>G;refseq.codonCoord=626;refseq.end=159429661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2305;refseq.name=NM_005099;refseq.name2=ADAMTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q626R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-35;refseq.start=159429661;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr1 159434628 . C T 187.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=98.83;MQ0=0;OQ=3044.28;QD=15.38;RankSumP=0.414099;SB=-1409.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.414G>A;refseq.codonCoord=138;refseq.end=159434628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_005099;refseq.name2=ADAMTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S138S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-220;refseq.start=159434628;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr1 159464358 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.439A>C;refseq.codonCoord=147;refseq.end=159464358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_032174;refseq.name2=TOMM40L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=159464358;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 159464645 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.530T>G;refseq.codonCoord=177;refseq.end=159464645;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_032174;refseq.name2=TOMM40L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V177G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=46;refseq.start=159464645;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 159464713 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.598A>G;refseq.codonCoord=200;refseq.end=159464713;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_032174;refseq.name2=TOMM40L;refseq.positionType=CDS;refseq.proteinCoordStr=p.K200E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=159464713;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr1 159469229 . G A 252.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=14.27;MQ=98.80;MQ0=0;OQ=9255.31;QD=21.18;RankSumP=0.346304;SB=-3618.74;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_15=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr1;refseq.chr_10=chr1;refseq.chr_11=chr1;refseq.chr_12=chr1;refseq.chr_13=chr1;refseq.chr_14=chr1;refseq.chr_15=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.chr_9=chr1;refseq.codingCoordStr_1=c.540C>T;refseq.codingCoordStr_10=c.540C>T;refseq.codingCoordStr_11=c.453C>T;refseq.codingCoordStr_12=c.540C>T;refseq.codingCoordStr_13=c.540C>T;refseq.codingCoordStr_14=c.540C>T;refseq.codingCoordStr_15=c.540C>T;refseq.codingCoordStr_2=c.453C>T;refseq.codingCoordStr_3=c.540C>T;refseq.codingCoordStr_4=c.453C>T;refseq.codingCoordStr_5=c.453C>T;refseq.codingCoordStr_6=c.540C>T;refseq.codingCoordStr_7=c.453C>T;refseq.codingCoordStr_8=c.453C>T;refseq.codingCoordStr_9=c.453C>T;refseq.codonCoord_1=180;refseq.codonCoord_10=180;refseq.codonCoord_11=151;refseq.codonCoord_12=180;refseq.codonCoord_13=180;refseq.codonCoord_14=180;refseq.codonCoord_15=180;refseq.codonCoord_2=151;refseq.codonCoord_3=180;refseq.codonCoord_4=151;refseq.codonCoord_5=151;refseq.codonCoord_6=180;refseq.codonCoord_7=151;refseq.codonCoord_8=151;refseq.codonCoord_9=151;refseq.end_1=159469229;refseq.end_10=159469229;refseq.end_11=159469229;refseq.end_12=159469229;refseq.end_13=159469229;refseq.end_14=159469229;refseq.end_15=159469229;refseq.end_2=159469229;refseq.end_3=159469229;refseq.end_4=159469229;refseq.end_5=159469229;refseq.end_6=159469229;refseq.end_7=159469229;refseq.end_8=159469229;refseq.end_9=159469229;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_15=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_15=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_12=A;refseq.haplotypeAlternate_13=A;refseq.haplotypeAlternate_14=A;refseq.haplotypeAlternate_15=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_13=G;refseq.haplotypeReference_14=G;refseq.haplotypeReference_15=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=743;refseq.mrnaCoord_10=743;refseq.mrnaCoord_11=603;refseq.mrnaCoord_12=743;refseq.mrnaCoord_13=743;refseq.mrnaCoord_14=743;refseq.mrnaCoord_15=743;refseq.mrnaCoord_2=603;refseq.mrnaCoord_3=743;refseq.mrnaCoord_4=603;refseq.mrnaCoord_5=603;refseq.mrnaCoord_6=743;refseq.mrnaCoord_7=603;refseq.mrnaCoord_8=603;refseq.mrnaCoord_9=603;refseq.name2_1=NR1I3;refseq.name2_10=NR1I3;refseq.name2_11=NR1I3;refseq.name2_12=NR1I3;refseq.name2_13=NR1I3;refseq.name2_14=NR1I3;refseq.name2_15=NR1I3;refseq.name2_2=NR1I3;refseq.name2_3=NR1I3;refseq.name2_4=NR1I3;refseq.name2_5=NR1I3;refseq.name2_6=NR1I3;refseq.name2_7=NR1I3;refseq.name2_8=NR1I3;refseq.name2_9=NR1I3;refseq.name_1=NM_001077469;refseq.name_10=NM_001077478;refseq.name_11=NM_001077479;refseq.name_12=NM_001077480;refseq.name_13=NM_001077481;refseq.name_14=NM_001077482;refseq.name_15=NM_005122;refseq.name_2=NM_001077470;refseq.name_3=NM_001077471;refseq.name_4=NM_001077472;refseq.name_5=NM_001077473;refseq.name_6=NM_001077474;refseq.name_7=NM_001077475;refseq.name_8=NM_001077476;refseq.name_9=NM_001077477;refseq.numMatchingRecords=15;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.P180P;refseq.proteinCoordStr_10=p.P180P;refseq.proteinCoordStr_11=p.P151P;refseq.proteinCoordStr_12=p.P180P;refseq.proteinCoordStr_13=p.P180P;refseq.proteinCoordStr_14=p.P180P;refseq.proteinCoordStr_15=p.P180P;refseq.proteinCoordStr_2=p.P151P;refseq.proteinCoordStr_3=p.P180P;refseq.proteinCoordStr_4=p.P151P;refseq.proteinCoordStr_5=p.P151P;refseq.proteinCoordStr_6=p.P180P;refseq.proteinCoordStr_7=p.P151P;refseq.proteinCoordStr_8=p.P151P;refseq.proteinCoordStr_9=p.P151P;refseq.referenceAA_1=Pro;refseq.referenceAA_10=Pro;refseq.referenceAA_11=Pro;refseq.referenceAA_12=Pro;refseq.referenceAA_13=Pro;refseq.referenceAA_14=Pro;refseq.referenceAA_15=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceAA_9=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_10=CCC;refseq.referenceCodon_11=CCC;refseq.referenceCodon_12=CCC;refseq.referenceCodon_13=CCC;refseq.referenceCodon_14=CCC;refseq.referenceCodon_15=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.referenceCodon_6=CCC;refseq.referenceCodon_7=CCC;refseq.referenceCodon_8=CCC;refseq.referenceCodon_9=CCC;refseq.spliceDist_1=-9;refseq.spliceDist_10=-9;refseq.spliceDist_11=-9;refseq.spliceDist_12=-9;refseq.spliceDist_13=-9;refseq.spliceDist_14=-9;refseq.spliceDist_15=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceDist_4=-9;refseq.spliceDist_5=-9;refseq.spliceDist_6=-9;refseq.spliceDist_7=-9;refseq.spliceDist_8=-9;refseq.spliceDist_9=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_10=splice-donor_-9;refseq.spliceInfo_11=splice-donor_-9;refseq.spliceInfo_12=splice-donor_-9;refseq.spliceInfo_13=splice-donor_-9;refseq.spliceInfo_14=splice-donor_-9;refseq.spliceInfo_15=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.spliceInfo_4=splice-donor_-9;refseq.spliceInfo_5=splice-donor_-9;refseq.spliceInfo_6=splice-donor_-9;refseq.spliceInfo_7=splice-donor_-9;refseq.spliceInfo_8=splice-donor_-9;refseq.spliceInfo_9=splice-donor_-9;refseq.start_1=159469229;refseq.start_10=159469229;refseq.start_11=159469229;refseq.start_12=159469229;refseq.start_13=159469229;refseq.start_14=159469229;refseq.start_15=159469229;refseq.start_2=159469229;refseq.start_3=159469229;refseq.start_4=159469229;refseq.start_5=159469229;refseq.start_6=159469229;refseq.start_7=159469229;refseq.start_8=159469229;refseq.start_9=159469229;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Pro;refseq.variantAA_10=Pro;refseq.variantAA_11=Pro;refseq.variantAA_12=Pro;refseq.variantAA_13=Pro;refseq.variantAA_14=Pro;refseq.variantAA_15=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantAA_9=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_10=CCT;refseq.variantCodon_11=CCT;refseq.variantCodon_12=CCT;refseq.variantCodon_13=CCT;refseq.variantCodon_14=CCT;refseq.variantCodon_15=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_5=CCT;refseq.variantCodon_6=CCT;refseq.variantCodon_7=CCT;refseq.variantCodon_8=CCT;refseq.variantCodon_9=CCT;set=Intersection GT 1/0 chr1 159742828 . C T 110.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=15.01;MQ=81.87;MQ0=11;OQ=2693.24;QD=12.89;RankSumP=0.0613690;SB=-1247.04;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.187C>T;refseq.codingCoordStr_2=c.184C>T;refseq.codonCoord_1=63;refseq.codonCoord_2=62;refseq.end_1=159742828;refseq.end_2=159742828;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=240;refseq.mrnaCoord_2=237;refseq.name2_1=FCGR2A;refseq.name2_2=FCGR2A;refseq.name_1=NM_001136219;refseq.name_2=NM_021642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q63*;refseq.proteinCoordStr_2=p.Q62*;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=81;refseq.spliceDist_2=78;refseq.start_1=159742828;refseq.start_2=159742828;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=Intersection GT 0/1 chr1 159742829 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=209;Dels=0.00;HRun=5;HaplotypeScore=14.85;MQ=80.73;MQ0=14;OQ=2605.87;QD=12.47;RankSumP=0.00182228;SB=-1248.85;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.188A>G;refseq.codingCoordStr_2=c.185A>G;refseq.codonCoord_1=63;refseq.codonCoord_2=62;refseq.end_1=159742829;refseq.end_2=159742829;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=241;refseq.mrnaCoord_2=238;refseq.name2_1=FCGR2A;refseq.name2_2=FCGR2A;refseq.name_1=NM_001136219;refseq.name_2=NM_021642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q63R;refseq.proteinCoordStr_2=p.Q62R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=82;refseq.spliceDist_2=79;refseq.start_1=159742829;refseq.start_2=159742829;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 0/1 chr1 159746369 . A G 352.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=92.42;MQ0=0;OQ=5058.03;QD=18.26;RankSumP=0.00580338;SB=-1726.80;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.500A>G;refseq.codingCoordStr_2=c.497A>G;refseq.codonCoord_1=167;refseq.codonCoord_2=166;refseq.end_1=159746369;refseq.end_2=159746369;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=553;refseq.mrnaCoord_2=550;refseq.name2_1=FCGR2A;refseq.name2_2=FCGR2A;refseq.name_1=NM_001136219;refseq.name_2=NM_021642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H167R;refseq.proteinCoordStr_2=p.H166R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=159746369;refseq.start_2=159746369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=filterInsoap-gatk GT 0/1 chr1 159747273 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=42.57;MQ=94.67;MQ0=0;OQ=8690.51;QD=15.98;RankSumP=0.253162;SB=-1180.97;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.645A>G;refseq.codingCoordStr_2=c.642A>G;refseq.codonCoord_1=215;refseq.codonCoord_2=214;refseq.end_1=159747273;refseq.end_2=159747273;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=698;refseq.mrnaCoord_2=695;refseq.name2_1=FCGR2A;refseq.name2_2=FCGR2A;refseq.name_1=NM_001136219;refseq.name_2=NM_021642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P215P;refseq.proteinCoordStr_2=p.P214P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=159747273;refseq.start_2=159747273;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr1 159747293 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.665T>G;refseq.codingCoordStr_2=c.662T>G;refseq.codonCoord_1=222;refseq.codonCoord_2=221;refseq.end_1=159747293;refseq.end_2=159747293;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=718;refseq.mrnaCoord_2=715;refseq.name2_1=FCGR2A;refseq.name2_2=FCGR2A;refseq.name_1=NM_001136219;refseq.name_2=NM_021642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V222G;refseq.proteinCoordStr_2=p.V221G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=159747293;refseq.start_2=159747293;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 159762101 . A T 277.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=85.49;MQ0=5;OQ=4346.77;QD=35.34;RankSumP=1.00000;SB=-2129.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1029A>T;refseq.codonCoord=343;refseq.end=159762101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1442;refseq.name=NM_002155;refseq.name2=HSPA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T343T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-1211;refseq.start=159762101;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 159762509 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=248;Dels=0.00;HRun=1;HaplotypeScore=8.65;MQ=62.64;MQ0=36;OQ=7020.99;QD=28.31;RankSumP=1.00000;SB=-2555.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1437T>C;refseq.codonCoord=479;refseq.end=159762509;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_002155;refseq.name2=HSPA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T479T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-803;refseq.start=159762509;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 159781166 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=6.58;MQ=28.28;MQ0=61;OQ=128.11;QD=0.65;RankSumP=0.589490;SB=-30.46;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.634T>G;refseq.codingCoordStr_2=c.631T>G;refseq.codingCoordStr_3=c.526T>G;refseq.codingCoordStr_4=c.526T>G;refseq.codingCoordStr_5=c.523T>G;refseq.codonCoord_1=212;refseq.codonCoord_2=211;refseq.codonCoord_3=176;refseq.codonCoord_4=176;refseq.codonCoord_5=175;refseq.end_1=159781166;refseq.end_2=159781166;refseq.end_3=159781166;refseq.end_4=159781166;refseq.end_5=159781166;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=818;refseq.mrnaCoord_2=815;refseq.mrnaCoord_3=681;refseq.mrnaCoord_4=663;refseq.mrnaCoord_5=660;refseq.name2_1=FCGR3A;refseq.name2_2=FCGR3A;refseq.name2_3=FCGR3A;refseq.name2_4=FCGR3A;refseq.name2_5=FCGR3A;refseq.name_1=NM_000569;refseq.name_2=NM_001127592;refseq.name_3=NM_001127593;refseq.name_4=NM_001127595;refseq.name_5=NM_001127596;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.F212V;refseq.proteinCoordStr_2=p.F211V;refseq.proteinCoordStr_3=p.F176V;refseq.proteinCoordStr_4=p.F176V;refseq.proteinCoordStr_5=p.F175V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.referenceCodon_5=TTT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.start_1=159781166;refseq.start_2=159781166;refseq.start_3=159781166;refseq.start_4=159781166;refseq.start_5=159781166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;set=Intersection GT 0/1 chr1 159784957 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1081;Dels=0.00;HRun=0;HaplotypeScore=39.78;MQ=26.72;MQ0=159;OQ=9567.74;QD=8.85;RankSumP=0.0573919;SB=-1751.50;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.305T>A;refseq.codingCoordStr_2=c.302T>A;refseq.codingCoordStr_3=c.197T>A;refseq.codingCoordStr_4=c.197T>A;refseq.codingCoordStr_5=c.194T>A;refseq.codonCoord_1=102;refseq.codonCoord_2=101;refseq.codonCoord_3=66;refseq.codonCoord_4=66;refseq.codonCoord_5=65;refseq.end_1=159784957;refseq.end_2=159784957;refseq.end_3=159784957;refseq.end_4=159784957;refseq.end_5=159784957;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=486;refseq.mrnaCoord_3=352;refseq.mrnaCoord_4=334;refseq.mrnaCoord_5=331;refseq.name2_1=FCGR3A;refseq.name2_2=FCGR3A;refseq.name2_3=FCGR3A;refseq.name2_4=FCGR3A;refseq.name2_5=FCGR3A;refseq.name_1=NM_000569;refseq.name_2=NM_001127592;refseq.name_3=NM_001127593;refseq.name_4=NM_001127595;refseq.name_5=NM_001127596;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L102H;refseq.proteinCoordStr_2=p.L101H;refseq.proteinCoordStr_3=p.L66H;refseq.proteinCoordStr_4=p.L66H;refseq.proteinCoordStr_5=p.L65H;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_1=-123;refseq.spliceDist_2=-123;refseq.spliceDist_3=-123;refseq.spliceDist_4=-123;refseq.spliceDist_5=-123;refseq.start_1=159784957;refseq.start_2=159784957;refseq.start_3=159784957;refseq.start_4=159784957;refseq.start_5=159784957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=Intersection GT 0/1 chr1 159866317 . T C 7.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=17.41;MQ=15.10;MQ0=221;OQ=1126.33;QD=3.94;RankSumP=0.00000;SB=-226.08;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.194A>G;refseq.codonCoord=65;refseq.end=159866317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_000570;refseq.name2=FCGR3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N65S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-126;refseq.start=159866317;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr1 159909398 . T G 21 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=65;Dels=0.00;HRun=2;HaplotypeScore=4.60;MQ=61.05;MQ0=14;OQ=69.85;QD=1.07;RankSumP=0.00396825;SB=65.23;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.398T>G;refseq.codingCoordStr_2=c.401T>G;refseq.codingCoordStr_3=c.398T>G;refseq.codingCoordStr_4=c.401T>G;refseq.codonCoord_1=133;refseq.codonCoord_2=134;refseq.codonCoord_3=133;refseq.codonCoord_4=134;refseq.end_1=159909398;refseq.end_2=159909398;refseq.end_3=159909398;refseq.end_4=159909398;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=493;refseq.mrnaCoord_3=490;refseq.mrnaCoord_4=493;refseq.name2_1=FCGR2B;refseq.name2_2=FCGR2B;refseq.name2_3=FCGR2B;refseq.name2_4=FCGR2B;refseq.name_1=NM_001002273;refseq.name_2=NM_001002274;refseq.name_3=NM_001002275;refseq.name_4=NM_004001;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V133G;refseq.proteinCoordStr_2=p.V134G;refseq.proteinCoordStr_3=p.V133G;refseq.proteinCoordStr_4=p.V134G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=159909398;refseq.start_2=159909398;refseq.start_3=159909398;refseq.start_4=159909398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr1 159948404 . A G 199.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=4.72;MQ=98.83;MQ0=0;OQ=1869.08;QD=15.98;RankSumP=0.382123;SB=-793.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.607A>G;refseq.codonCoord=203;refseq.end=159948404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_032738;refseq.name2=FCRLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S203G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=57;refseq.start=159948404;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr1 159949760 . G A 211.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.84;MQ0=0;OQ=1866.68;QD=14.58;RankSumP=0.486889;SB=-742.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1097G>A;refseq.codonCoord=366;refseq.end=159949760;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1339;refseq.name=NM_032738;refseq.name2=FCRLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R366Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=262;refseq.start=159949760;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 159962263 . G T 208.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.94;MQ0=0;OQ=3032.35;QD=31.59;RankSumP=1.00000;SB=-356.82;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.336G>T;refseq.codonCoord=112;refseq.end=159962263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_001002901;refseq.name2=FCRLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A112A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=29;refseq.start=159962263;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 159963406 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=97.47;MQ0=0;OQ=418.38;QD=11.62;RankSumP=0.600890;SB=-114.34;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.864G>C;refseq.codonCoord=288;refseq.end=159963406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_001002901;refseq.name2=FCRLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=159963406;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr1 159963696 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=102;Dels=0.00;HRun=1;HaplotypeScore=7.42;MQ=98.38;MQ0=0;OQ=1604.08;QD=15.73;RankSumP=0.202243;SB=-778.14;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.901G>C;refseq.codonCoord=301;refseq.end=159963696;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=907;refseq.name=NM_001002901;refseq.name2=FCRLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A301P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=36;refseq.start=159963696;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 159963773 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=3.62;MQ=98.14;MQ0=0;OQ=825.37;QD=16.51;RankSumP=0.182648;SB=-308.32;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.978G>T;refseq.codonCoord=326;refseq.end=159963773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_001002901;refseq.name2=FCRLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P326P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=113;refseq.start=159963773;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 160018365 . A G 186.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=98.81;MQ0=0;OQ=2502.08;QD=14.81;RankSumP=0.149895;SB=-1059.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.199A>G;refseq.codonCoord=67;refseq.end=160018365;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_007348;refseq.name2=ATF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M67V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=40;refseq.start=160018365;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 160194951 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=485;Dels=0.00;HRun=1;HaplotypeScore=19.45;MQ=98.71;MQ0=0;OQ=17353.97;QD=35.78;RankSumP=1.00000;SB=-8081.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1896A>G;refseq.codonCoord=632;refseq.end=160194951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1963;refseq.name=NM_007348;refseq.name2=ATF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S632S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=92;refseq.start=160194951;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 160234305 . A G 106.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.17;MQ0=0;OQ=830.96;QD=13.62;RankSumP=0.0442612;SB=-278.96;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1408T>C;refseq.codonCoord=470;refseq.end=160234305;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_015441;refseq.name2=OLFML2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W470R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-67;refseq.start=160234305;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr1 160242858 . A G 407.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=94.59;MQ0=0;OQ=8077.68;QD=37.22;RankSumP=1.00000;SB=-3181.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.576T>C;refseq.codonCoord=192;refseq.end=160242858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_015441;refseq.name2=OLFML2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N192N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=30;refseq.start=160242858;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 160580359 . C T 141.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.86;MQ0=0;OQ=4990.62;QD=20.88;RankSumP=0.141110;SB=-744.73;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.549C>T;refseq.codingCoordStr_2=c.564C>T;refseq.codonCoord_1=183;refseq.codonCoord_2=188;refseq.end_1=160580359;refseq.end_2=160580359;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=936;refseq.mrnaCoord_2=951;refseq.name2_1=NOS1AP;refseq.name2_2=NOS1AP;refseq.name_1=NM_001164757;refseq.name_2=NM_014697;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S183S;refseq.proteinCoordStr_2=p.S188S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=160580359;refseq.start_2=160580359;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr1 160601880 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=45.09;MQ=98.06;MQ0=0;OQ=4222.96;QD=15.64;RankSumP=0.443902;SB=-538.08;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.117C>T;refseq.codingCoordStr_2=c.987C>T;refseq.codingCoordStr_3=c.1002C>T;refseq.codonCoord_1=39;refseq.codonCoord_2=329;refseq.codonCoord_3=334;refseq.end_1=160601880;refseq.end_2=160601880;refseq.end_3=160601880;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2484;refseq.mrnaCoord_2=1374;refseq.mrnaCoord_3=1389;refseq.name2_1=NOS1AP;refseq.name2_2=NOS1AP;refseq.name2_3=NOS1AP;refseq.name_1=NM_001126060;refseq.name_2=NM_001164757;refseq.name_3=NM_014697;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R39R;refseq.proteinCoordStr_2=p.R329R;refseq.proteinCoordStr_3=p.R334R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-104;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.start_1=160601880;refseq.start_2=160601880;refseq.start_3=160601880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 0/1 chr1 160610726 . C T 235.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.38;MQ0=0;OQ=1633.11;QD=14.58;RankSumP=0.398437;SB=-813.79;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.522G>A;refseq.codonCoord=174;refseq.end=160610726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_182581;refseq.name2=C1orf111;refseq.positionType=CDS;refseq.proteinCoordStr=p.R174R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=305;refseq.start=160610726;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 160611014 . A G 444.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.96;MQ0=0;OQ=4592.24;QD=39.93;RankSumP=1.00000;SB=-1359.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.234T>C;refseq.codonCoord=78;refseq.end=160611014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_182581;refseq.name2=C1orf111;refseq.positionType=CDS;refseq.proteinCoordStr=p.D78D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=17;refseq.start=160611014;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 160611715 . G A 422.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.53;MQ0=0;OQ=6588.41;QD=41.70;RankSumP=1.00000;SB=-1589.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.206C>T;refseq.codonCoord=69;refseq.end=160611715;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_182581;refseq.name2=C1orf111;refseq.positionType=CDS;refseq.proteinCoordStr=p.A69V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=160611715;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 160633695 . C T 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=295;Dels=0.00;HRun=2;HaplotypeScore=4.42;MQ=98.68;MQ0=0;OQ=11962.09;QD=40.55;RankSumP=1.00000;SB=-5675.11;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.398G>A;refseq.codonCoord=133;refseq.end=160633695;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_053282;refseq.name2=SH2D1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.*133*;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=35;refseq.start=160633695;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 1/1 chr1 160758909 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=278;Dels=0.00;HRun=1;HaplotypeScore=16.84;MQ=98.57;MQ0=0;OQ=76.45;QD=0.27;RankSumP=0.00000;SB=459.52;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1205C>A;refseq.codonCoord=402;refseq.end=160758909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_175866;refseq.name2=UHMK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T402K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=92;refseq.start=160758909;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr1 161008597 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1664T>G;refseq.codingCoordStr_2=c.1664T>G;refseq.codonCoord_1=555;refseq.codonCoord_2=555;refseq.end_1=161008597;refseq.end_2=161008597;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2129;refseq.mrnaCoord_2=2049;refseq.name2_1=DDR2;refseq.name2_2=DDR2;refseq.name_1=NM_001014796;refseq.name_2=NM_006182;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V555G;refseq.proteinCoordStr_2=p.V555G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=161008597;refseq.start_2=161008597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 161012576 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=566;Dels=0.00;HRun=1;HaplotypeScore=155.07;MQ=98.31;MQ0=0;OQ=338.34;QD=0.60;RankSumP=0.00000;SB=594.94;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2075C>A;refseq.codingCoordStr_2=c.2075C>A;refseq.codonCoord_1=692;refseq.codonCoord_2=692;refseq.end_1=161012576;refseq.end_2=161012576;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2540;refseq.mrnaCoord_2=2460;refseq.name2_1=DDR2;refseq.name2_2=DDR2;refseq.name_1=NM_001014796;refseq.name_2=NM_006182;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T692N;refseq.proteinCoordStr_2=p.T692N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=161012576;refseq.start_2=161012576;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr1 161041891 . C T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=15.89;MQ0=163;OQ=981.34;QD=3.83;RankSumP=0.750000;SB=-194.13;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.888C>T;refseq.codonCoord=296;refseq.end=161041891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_016371;refseq.name2=HSD17B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y296Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-16;refseq.start=161041891;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap-filterIngatk GT 0/1 chr1 161048720 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.912A>G;refseq.codonCoord=304;refseq.end=161048720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_016371;refseq.name2=HSD17B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L304L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=161048720;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr1 163439840 . A G 325.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=98.81;MQ0=0;OQ=6401.89;QD=39.76;RankSumP=1.00000;SB=-3119.52;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.204T>C;refseq.codingCoordStr_2=c.1050T>C;refseq.codingCoordStr_3=c.1050T>C;refseq.codingCoordStr_4=c.303T>C;refseq.codonCoord_1=68;refseq.codonCoord_2=350;refseq.codonCoord_3=350;refseq.codonCoord_4=101;refseq.end_1=163439840;refseq.end_2=163439840;refseq.end_3=163439840;refseq.end_4=163439840;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=679;refseq.mrnaCoord_2=1244;refseq.mrnaCoord_3=1433;refseq.mrnaCoord_4=546;refseq.name2_1=LMX1A;refseq.name2_2=LMX1A;refseq.name2_3=LMX1A;refseq.name2_4=LMX1A;refseq.name_1=NM_001033507;refseq.name_2=NM_001174069;refseq.name_3=NM_177398;refseq.name_4=NM_177399;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D68D;refseq.proteinCoordStr_2=p.D350D;refseq.proteinCoordStr_3=p.D350D;refseq.proteinCoordStr_4=p.D101D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.spliceDist_4=62;refseq.start_1=163439840;refseq.start_2=163439840;refseq.start_3=163439840;refseq.start_4=163439840;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/1 chr1 163485303 . C T 277.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=11.93;MQ=98.76;MQ0=0;OQ=5019.59;QD=15.99;RankSumP=0.0365001;SB=-1397.24;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.462G>A;refseq.codingCoordStr_2=c.462G>A;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=163485303;refseq.end_2=163485303;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=656;refseq.mrnaCoord_2=845;refseq.name2_1=LMX1A;refseq.name2_2=LMX1A;refseq.name_1=NM_001174069;refseq.name_2=NM_177398;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L154L;refseq.proteinCoordStr_2=p.L154L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=163485303;refseq.start_2=163485303;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr1 163644176 . G A 220.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=7.47;MQ=98.73;MQ0=0;OQ=6593.75;QD=21.07;RankSumP=0.341172;SB=-1683.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1050C>T;refseq.codonCoord=350;refseq.end=163644176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_006917;refseq.name2=RXRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V350V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=163644176;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 163664739 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=98.25;MQ0=0;OQ=1081.24;QD=15.23;RankSumP=0.104875;SB=-424.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.138A>G;refseq.codonCoord=46;refseq.end=163664739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_006917;refseq.name2=RXRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=89;refseq.start=163664739;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 163915333 . C T 176.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=98.75;MQ0=0;OQ=3187.76;QD=15.18;RankSumP=0.0401292;SB=-1135.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.900G>A;refseq.codonCoord=300;refseq.end=163915333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_000696;refseq.name2=ALDH9A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A300A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-31;refseq.start=163915333;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 163918897 . A G 357.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.96;MQ0=0;OQ=7467.80;QD=19.91;RankSumP=0.479468;SB=-2055.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.402T>C;refseq.codonCoord=134;refseq.end=163918897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_000696;refseq.name2=ALDH9A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I134I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-56;refseq.start=163918897;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr1 164306522 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=0;HaplotypeScore=11.40;MQ=98.60;MQ0=0;OQ=10062.84;QD=24.66;RankSumP=0.450001;SB=-3639.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.366G>C;refseq.codonCoord=122;refseq.end=164306522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_001017961;refseq.name2=FAM78B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V122V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=103;refseq.start=164306522;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 165096097 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.642G>C;refseq.codonCoord=214;refseq.end=165096097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_053053;refseq.name2=TADA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P214P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-51;refseq.start=165096097;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 165156924 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1528C>G;refseq.codonCoord=510;refseq.end=165156924;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1584;refseq.name=NM_199351;refseq.name2=ILDR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L510V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=317;refseq.start=165156924;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr1 165361787 . G C 162.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.44;MQ0=0;OQ=1944.92;QD=13.14;RankSumP=0.300731;SB=-745.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.795G>C;refseq.codonCoord=265;refseq.end=165361787;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_001080426;refseq.name2=DUSP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.E265D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=140;refseq.start=165361787;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 165362389 . G A 120.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=580.69;QD=21.51;RankSumP=0.523619;SB=-180.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1397G>A;refseq.codonCoord=466;refseq.end=165362389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1397;refseq.name=NM_001080426;refseq.name2=DUSP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R466H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=742;refseq.start=165362389;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 165362505 . G A 202.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.80;MQ0=0;OQ=841.98;QD=17.54;RankSumP=0.361356;SB=-298.18;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1513G>A;refseq.codonCoord=505;refseq.end=165362505;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_001080426;refseq.name2=DUSP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A505T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=858;refseq.start=165362505;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 165363118 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2126A>C;refseq.codonCoord=709;refseq.end=165363118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2126;refseq.name=NM_001080426;refseq.name2=DUSP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.N709T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1471;refseq.start=165363118;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 165364363 . C A 164.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=4.74;MQ=98.67;MQ0=0;OQ=1585.53;QD=13.91;RankSumP=0.228489;SB=-805.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3371C>A;refseq.codonCoord=1124;refseq.end=165364363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3371;refseq.name=NM_001080426;refseq.name2=DUSP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1124N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-664;refseq.start=165364363;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 165610059 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=5.60595e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.424G>C;refseq.codonCoord=142;refseq.end=165610059;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_002697;refseq.name2=POU2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A142P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=91;refseq.start=165610059;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 165782074 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.547T>C;refseq.codonCoord=183;refseq.end=165782074;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_003851;refseq.name2=CREG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S183P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=73;refseq.start=165782074;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 166058980 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=155;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=98.30;MQ0=0;OQ=2424.24;QD=15.64;RankSumP=0.0965660;SB=-756.95;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3599C>T;refseq.codingCoordStr_2=c.4058C>T;refseq.codonCoord_1=1200;refseq.codonCoord_2=1353;refseq.end_1=166058980;refseq.end_2=166058980;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3901;refseq.mrnaCoord_2=4356;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1200L;refseq.proteinCoordStr_2=p.P1353L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=166058980;refseq.start_2=166058980;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr1 166081654 . A G 161.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.81;MQ0=0;OQ=6398.23;QD=21.47;RankSumP=0.408015;SB=-2717.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2319T>C;refseq.codingCoordStr_2=c.2778T>C;refseq.codonCoord_1=773;refseq.codonCoord_2=926;refseq.end_1=166081654;refseq.end_2=166081654;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2621;refseq.mrnaCoord_2=3076;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I773I;refseq.proteinCoordStr_2=p.I926I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=166081654;refseq.start_2=166081654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr1 166084263 . A G 391.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=8830.90;QD=38.73;RankSumP=1.00000;SB=-2900.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1938T>C;refseq.codingCoordStr_2=c.2397T>C;refseq.codonCoord_1=646;refseq.codonCoord_2=799;refseq.end_1=166084263;refseq.end_2=166084263;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2240;refseq.mrnaCoord_2=2695;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G646G;refseq.proteinCoordStr_2=p.G799G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=166084263;refseq.start_2=166084263;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr1 166092109 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=534;Dels=0.00;HRun=0;HaplotypeScore=34.42;MQ=98.90;MQ0=0;OQ=19954.65;QD=37.37;RankSumP=1.00000;SB=-5261.48;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1630A>G;refseq.codingCoordStr_2=c.2089A>G;refseq.codonCoord_1=544;refseq.codonCoord_2=697;refseq.end_1=166092109;refseq.end_2=166092109;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1932;refseq.mrnaCoord_2=2387;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I544V;refseq.proteinCoordStr_2=p.I697V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=166092109;refseq.start_2=166092109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr1 166092230 . A G 185.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.62;MQ0=0;OQ=1275.44;QD=14.83;RankSumP=0.347361;SB=-559.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1509T>C;refseq.codingCoordStr_2=c.1968T>C;refseq.codonCoord_1=503;refseq.codonCoord_2=656;refseq.end_1=166092230;refseq.end_2=166092230;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1811;refseq.mrnaCoord_2=2266;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F503F;refseq.proteinCoordStr_2=p.F656F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=166092230;refseq.start_2=166092230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr1 166106202 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=141;Dels=0.00;HRun=2;HaplotypeScore=6.26;MQ=98.87;MQ0=0;OQ=2597.32;QD=18.42;RankSumP=0.390564;SB=-741.34;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1074C>T;refseq.codingCoordStr_2=c.1533C>T;refseq.codonCoord_1=358;refseq.codonCoord_2=511;refseq.end_1=166106202;refseq.end_2=166106202;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=1831;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V358V;refseq.proteinCoordStr_2=p.V511V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=166106202;refseq.start_2=166106202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr1 166116038 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.68;MQ0=0;OQ=1778.35;QD=9.12;RankSumP=0.309732;SB=-618.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.696T>C;refseq.codingCoordStr_2=c.1155T>C;refseq.codonCoord_1=232;refseq.codonCoord_2=385;refseq.end_1=166116038;refseq.end_2=166116038;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=998;refseq.mrnaCoord_2=1453;refseq.name2_1=ADCY10;refseq.name2_2=ADCY10;refseq.name_1=NM_001167749;refseq.name_2=NM_018417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G232G;refseq.proteinCoordStr_2=p.G385G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=166116038;refseq.start_2=166116038;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr1 166160383 . G A 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=98.13;MQ0=0;OQ=540.37;QD=11.26;RankSumP=0.550027;SB=-265.47;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.126C>T;refseq.codingCoordStr_3=c.126C>T;refseq.codonCoord_2=42;refseq.codonCoord_3=42;refseq.end_1=166160383;refseq.end_2=166160383;refseq.end_3=166160383;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=427;refseq.mrnaCoord_2=285;refseq.mrnaCoord_3=280;refseq.name2_1=BRP44;refseq.name2_2=BRP44;refseq.name2_3=BRP44;refseq.name_1=NR_026550;refseq.name_2=NM_001143674;refseq.name_3=NM_015415;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F42F;refseq.proteinCoordStr_3=p.F42F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=166160383;refseq.start_2=166160383;refseq.start_3=166160383;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/0 chr1 166172863 . A C 94.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.20;MQ0=0;OQ=1417.57;QD=30.82;RankSumP=1.00000;SB=-476.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.90A>C;refseq.codingCoordStr_2=c.-120T>G;refseq.codingCoordStr_3=c.90A>C;refseq.codonCoord_1=30;refseq.codonCoord_3=30;refseq.end_1=166172863;refseq.end_2=166172863;refseq.end_3=166172863;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=332;refseq.mrnaCoord_2=40;refseq.mrnaCoord_3=332;refseq.name2_1=DCAF6;refseq.name2_2=BRP44;refseq.name2_3=DCAF6;refseq.name_1=NM_001017977;refseq.name_2=NM_001143674;refseq.name_3=NM_018442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R30R;refseq.proteinCoordStr_3=p.R30R;refseq.referenceAA_1=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-8;refseq.spliceDist_2=40;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=166172863;refseq.start_2=166172863;refseq.start_3=166172863;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/1 chr1 166240600 . C T 173.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=480;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=98.52;MQ0=0;OQ=7239.49;QD=15.08;RankSumP=0.441194;SB=-2871.90;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1323C>T;refseq.codingCoordStr_2=c.1323C>T;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.end_1=166240600;refseq.end_2=166240600;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1565;refseq.mrnaCoord_2=1565;refseq.name2_1=DCAF6;refseq.name2_2=DCAF6;refseq.name_1=NM_001017977;refseq.name_2=NM_018442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D441D;refseq.proteinCoordStr_2=p.D441D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=166240600;refseq.start_2=166240600;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr1 166280474 . T C 263.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.69;MQ0=0;OQ=2533.81;QD=15.84;RankSumP=0.263119;SB=-941.11;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1640T>C;refseq.codingCoordStr_2=c.1700T>C;refseq.codonCoord_1=547;refseq.codonCoord_2=567;refseq.end_1=166280474;refseq.end_2=166280474;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1882;refseq.mrnaCoord_2=1942;refseq.name2_1=DCAF6;refseq.name2_2=DCAF6;refseq.name_1=NM_001017977;refseq.name_2=NM_018442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V547A;refseq.proteinCoordStr_2=p.V567A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=166280474;refseq.start_2=166280474;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 166326490 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=35.79;MQ=97.65;MQ0=0;OQ=470.86;QD=4.36;RankSumP=0.105427;SB=-10.60;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1140T>C;refseq.codonCoord=380;refseq.end=166326490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1454;refseq.name=NM_153832;refseq.name2=GPR161;refseq.positionType=CDS;refseq.proteinCoordStr=p.G380G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=41;refseq.start=166326490;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 166517157 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr=chr1;refseq.codingCoordStr=c.203+2;refseq.end=166517157;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005149;refseq.name2=TBX19;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=166517157;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 166776826 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.575851;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.333C>T;refseq.codonCoord=111;refseq.end=166776826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_003175;refseq.name2=XCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T111T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=157;refseq.start=166776826;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr1 166950100 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=13.17;MQ=98.15;MQ0=0;OQ=1025.74;QD=9.68;RankSumP=0.405580;SB=-207.28;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.414G>A;refseq.codonCoord=138;refseq.end=166950100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001937;refseq.name2=DPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R138R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-18;refseq.start=166950100;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 166950126 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.388T>G;refseq.codonCoord=130;refseq.end=166950126;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_001937;refseq.name2=DPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.F130V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-44;refseq.start=166950126;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr1 166964797 . C T 181.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=666;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.89;MQ0=0;OQ=11563.86;QD=17.36;RankSumP=0.000112106;SB=-3952.26;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.240G>A;refseq.codonCoord=80;refseq.end=166964797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_001937;refseq.name2=DPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T80T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-66;refseq.start=166964797;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr1 167363210 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.507C>A;refseq.codingCoordStr_2=c.507C>A;refseq.codonCoord_1=169;refseq.codonCoord_2=169;refseq.end_1=167363210;refseq.end_2=167363210;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=628;refseq.name2_1=ATP1B1;refseq.name2_2=ATP1B1;refseq.name_1=NM_001001787;refseq.name_2=NM_001677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y169*;refseq.proteinCoordStr_2=p.Y169*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=167363210;refseq.start_2=167363210;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr1 167657778 . A G 257.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=2652.35;QD=21.05;RankSumP=0.0908461;SB=-1253.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.515T>C;refseq.codonCoord=172;refseq.end=167657778;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_021179;refseq.name2=C1orf114;refseq.positionType=CDS;refseq.proteinCoordStr=p.F172S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=398;refseq.start=167657778;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr1 167713421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.403A>C;refseq.codonCoord=135;refseq.end=167713421;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_006996;refseq.name2=SLC19A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T135P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=199;refseq.start=167713421;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 167750185 . T C 117.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.86;MQ0=0;OQ=6218.32;QD=23.38;RankSumP=0.179577;SB=-2575.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6665A>G;refseq.codonCoord=2222;refseq.end=167750185;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6810;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2222G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=137;refseq.start=167750185;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr1 167751374 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6460A>C;refseq.codonCoord=2154;refseq.end=167751374;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6605;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2154P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-69;refseq.start=167751374;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 167765599 . T C 142.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=98.70;MQ0=0;OQ=19964.52;QD=41.16;RankSumP=1.00000;SB=-9673.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5290A>G;refseq.codonCoord=1764;refseq.end=167765599;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5435;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1764V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=82;refseq.start=167765599;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 167776972 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1048;Dels=0.00;HRun=0;HaplotypeScore=31.93;MQ=64.84;MQ0=165;OQ=14808.64;QD=14.13;RankSumP=0.221295;SB=-5019.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3980A>G;refseq.codonCoord=1327;refseq.end=167776972;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4125;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1327R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-817;refseq.start=167776972;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 167777004 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1167;Dels=0.00;HRun=1;HaplotypeScore=25.86;MQ=77.92;MQ0=130;OQ=19161.62;QD=16.42;RankSumP=0.0247608;SB=-7505.45;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3948C>T;refseq.codonCoord=1316;refseq.end=167777004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4093;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1316L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-849;refseq.start=167777004;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr1 167777148 . A G 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=826;Dels=0.00;HRun=2;HaplotypeScore=29.14;MQ=54.16;MQ0=291;OQ=17563.39;QD=21.26;RankSumP=1.00000;SB=-7524.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3804T>C;refseq.codonCoord=1268;refseq.end=167777148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3949;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1268S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-993;refseq.start=167777148;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 167778179 . T C 112.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=2;HaplotypeScore=9.34;MQ=98.53;MQ0=0;OQ=8772.59;QD=20.40;RankSumP=0.359369;SB=-2496.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2773A>G;refseq.codonCoord=925;refseq.end=167778179;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2918;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K925E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=798;refseq.start=167778179;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 167778358 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=734;Dels=0.00;HRun=0;HaplotypeScore=8.65;MQ=98.81;MQ0=0;OQ=14624.56;QD=19.92;RankSumP=0.179489;SB=-5803.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2594A>G;refseq.codonCoord=865;refseq.end=167778358;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2739;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H865R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=619;refseq.start=167778358;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 167778379 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=718;Dels=0.00;HRun=0;HaplotypeScore=15.70;MQ=98.84;MQ0=0;OQ=15873.70;QD=22.11;RankSumP=0.245030;SB=-6530.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2573A>G;refseq.codonCoord=858;refseq.end=167778379;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2718;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K858R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=598;refseq.start=167778379;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 167778502 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=545;Dels=0.00;HRun=1;HaplotypeScore=36.57;MQ=98.70;MQ0=0;OQ=10947.56;QD=20.09;RankSumP=0.168871;SB=-4297.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2450A>C;refseq.codonCoord=817;refseq.end=167778502;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2595;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N817T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=475;refseq.start=167778502;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr1 167778651 . T C 323.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.68;MQ0=0;OQ=9537.71;QD=17.37;RankSumP=0.381820;SB=-2508.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2301A>G;refseq.codonCoord=767;refseq.end=167778651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2446;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S767S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=326;refseq.start=167778651;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr1 167778663 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=610;Dels=0.00;HRun=0;HaplotypeScore=22.55;MQ=98.67;MQ0=0;OQ=13947.75;QD=22.87;RankSumP=0.331445;SB=-4776.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2289A>G;refseq.codonCoord=763;refseq.end=167778663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2434;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E763E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=314;refseq.start=167778663;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 167778717 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=773;Dels=0.00;HRun=1;HaplotypeScore=6.11;MQ=98.77;MQ0=0;OQ=13150.87;QD=17.01;RankSumP=0.102401;SB=-4090.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2235T>C;refseq.codonCoord=745;refseq.end=167778717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2380;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N745N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=260;refseq.start=167778717;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr1 167778744 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=797;Dels=0.00;HRun=1;HaplotypeScore=40.94;MQ=98.87;MQ0=0;OQ=12777.56;QD=16.03;RankSumP=0.266079;SB=-3956.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2208C>T;refseq.codonCoord=736;refseq.end=167778744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2353;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I736I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=233;refseq.start=167778744;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 167780207 . G T 183.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=2.03;MQ=98.96;MQ0=0;OQ=6085.40;QD=18.17;RankSumP=0.0392713;SB=-2504.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1926C>A;refseq.codonCoord=642;refseq.end=167780207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2071;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T642T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-50;refseq.start=167780207;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 167782350 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=16.98;MQ=98.77;MQ0=0;OQ=7798.06;QD=21.31;RankSumP=0.338692;SB=-2235.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1716G>A;refseq.codonCoord=572;refseq.end=167782350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1861;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E572E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-47;refseq.start=167782350;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 167785673 . T C 414.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=97.96;MQ0=0;OQ=5248.96;QD=38.31;RankSumP=1.00000;SB=-1153.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1601A>G;refseq.codonCoord=534;refseq.end=167785673;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q534R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-11;refseq.start=167785673;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 167786518 . G A 148.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=1;HaplotypeScore=10.28;MQ=98.83;MQ0=0;OQ=6440.32;QD=21.26;RankSumP=0.276639;SB=-1690.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1380C>T;refseq.codonCoord=460;refseq.end=167786518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1525;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N460N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-17;refseq.start=167786518;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 167788477 . A G 317.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=99.00;MQ0=0;OQ=3082.13;QD=17.12;RankSumP=0.370619;SB=-1047.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1238T>C;refseq.codonCoord=413;refseq.end=167788477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_000130;refseq.name2=F5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M413T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-59;refseq.start=167788477;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr1 167832955 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1789A>C;refseq.codonCoord=597;refseq.end=167832955;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1854;refseq.name=NM_003005;refseq.name2=SELP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T597P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=84;refseq.start=167832955;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 167852905 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=574;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.69;MQ0=0;OQ=10613.73;QD=18.49;RankSumP=0.135223;SB=-3576.57;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.466G>A;refseq.codonCoord=156;refseq.end=167852905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_003005;refseq.name2=SELP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A156T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-16;refseq.start=167852905;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 167965118 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.923G>C;refseq.codonCoord=308;refseq.end=167965118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_000450;refseq.name2=SELE;refseq.positionType=CDS;refseq.proteinCoordStr=p.R308P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=22;refseq.start=167965118;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 168100172 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.917T>G;refseq.codingCoordStr_2=c.917T>G;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.end_1=168100172;refseq.end_2=168100172;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1115;refseq.mrnaCoord_2=1115;refseq.name2_1=SCYL3;refseq.name2_2=SCYL3;refseq.name_1=NM_020423;refseq.name_2=NM_181093;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V306G;refseq.proteinCoordStr_2=p.V306G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=168100172;refseq.start_2=168100172;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr1 168218621 . C T 156.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.74;MQ0=0;OQ=2158.52;QD=17.99;RankSumP=0.436119;SB=-435.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1518G>A;refseq.codonCoord=506;refseq.end=168218621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1789;refseq.name=NM_014970;refseq.name2=KIFAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G506G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=12;refseq.start=168218621;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr1 168768009 . A C 423.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.88;MQ0=0;OQ=4266.59;QD=36.16;RankSumP=1.00000;SB=-1802.26;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.96A>C;refseq.codingCoordStr_3=c.96A>C;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.end_1=168768009;refseq.end_2=168768009;refseq.end_3=168768009;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=123;refseq.mrnaCoord_2=123;refseq.mrnaCoord_3=123;refseq.name2_1=GORAB;refseq.name2_2=GORAB;refseq.name2_3=GORAB;refseq.name_1=NR_027397;refseq.name_2=NM_001146039;refseq.name_3=NM_152281;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G32G;refseq.proteinCoordStr_3=p.G32G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=168768009;refseq.start_2=168768009;refseq.start_3=168768009;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr1 168788000 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=2;HaplotypeScore=8.99;MQ=98.85;MQ0=0;OQ=8338.54;QD=42.54;RankSumP=1.00000;SB=-3329.71;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.958G>A;refseq.codonCoord_2=320;refseq.end_1=168788000;refseq.end_2=168788000;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=989;refseq.mrnaCoord_2=985;refseq.name2_1=GORAB;refseq.name2_2=GORAB;refseq.name_1=NR_027397;refseq.name_2=NM_152281;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E320K;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=221;refseq.spliceDist_2=221;refseq.start_1=168788000;refseq.start_2=168788000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr1 169194239 . A G 164.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.64;MQ0=0;OQ=2112.98;QD=13.54;RankSumP=0.288334;SB=-504.53;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.86A>G;refseq.codingCoordStr_2=c.86A>G;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.end_1=169194239;refseq.end_2=169194239;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=240;refseq.mrnaCoord_2=216;refseq.name2_1=C1orf129;refseq.name2_2=C1orf129;refseq.name_1=NM_001163629;refseq.name_2=NM_025063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N29S;refseq.proteinCoordStr_2=p.N29S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=169194239;refseq.start_2=169194239;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr1 169225653 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=583;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=98.89;MQ0=0;OQ=11030.51;QD=18.92;RankSumP=0.409050;SB=-4178.48;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.913C>T;refseq.codingCoordStr_2=c.913C>T;refseq.codonCoord_1=305;refseq.codonCoord_2=305;refseq.end_1=169225653;refseq.end_2=169225653;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1067;refseq.mrnaCoord_2=1043;refseq.name2_1=C1orf129;refseq.name2_2=C1orf129;refseq.name_1=NM_001163629;refseq.name_2=NM_025063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L305L;refseq.proteinCoordStr_2=p.L305L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=169225653;refseq.start_2=169225653;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr1 169225712 . C T 233.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=99.00;MQ0=0;OQ=4857.42;QD=18.54;RankSumP=0.0714558;SB=-1070.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.972C>T;refseq.codingCoordStr_2=c.972C>T;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.end_1=169225712;refseq.end_2=169225712;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1126;refseq.mrnaCoord_2=1102;refseq.name2_1=C1orf129;refseq.name2_2=C1orf129;refseq.name_1=NM_001163629;refseq.name_2=NM_025063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C324C;refseq.proteinCoordStr_2=p.C324C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=169225712;refseq.start_2=169225712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr1 169232305 . T C 247.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=98.89;MQ0=0;OQ=7001.15;QD=20.35;RankSumP=0.232366;SB=-2537.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1371T>C;refseq.codingCoordStr_2=c.1371T>C;refseq.codonCoord_1=457;refseq.codonCoord_2=457;refseq.end_1=169232305;refseq.end_2=169232305;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1525;refseq.mrnaCoord_2=1501;refseq.name2_1=C1orf129;refseq.name2_2=C1orf129;refseq.name_1=NM_001163629;refseq.name_2=NM_025063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N457N;refseq.proteinCoordStr_2=p.N457N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=169232305;refseq.start_2=169232305;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr1 169343590 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=509;Dels=0.00;HRun=4;HaplotypeScore=13.34;MQ=98.73;MQ0=0;OQ=10712.66;QD=21.05;RankSumP=0.0397563;SB=-4084.97;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.472G>A;refseq.codingCoordStr_2=c.472G>A;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.end_1=169343590;refseq.end_2=169343590;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=583;refseq.mrnaCoord_2=566;refseq.name2_1=FMO3;refseq.name2_2=FMO3;refseq.name_1=NM_001002294;refseq.name_2=NM_006894;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E158K;refseq.proteinCoordStr_2=p.E158K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=169343590;refseq.start_2=169343590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr1 169435208 . C T 226.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.91;MQ0=0;OQ=8748.62;QD=20.39;RankSumP=0.130036;SB=-2458.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.584C>T;refseq.codonCoord=195;refseq.end=169435208;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_001460;refseq.name2=FMO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S195L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-44;refseq.start=169435208;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr1 169435209 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=98.91;MQ0=0;OQ=8681.33;QD=20.19;RankSumP=0.0246750;SB=-2299.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.585A>G;refseq.codonCoord=195;refseq.end=169435209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_001460;refseq.name2=FMO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S195S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-43;refseq.start=169435209;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 169441155 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=2;HaplotypeScore=11.91;MQ=98.89;MQ0=0;OQ=4991.50;QD=19.81;RankSumP=0.148319;SB=-1600.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.941A>G;refseq.codonCoord=314;refseq.end=169441155;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_001460;refseq.name2=FMO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E314G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=114;refseq.start=169441155;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 169570460 . G A 205.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=98.85;MQ0=0;OQ=6137.30;QD=22.16;RankSumP=0.312327;SB=-2307.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1114G>A;refseq.codonCoord=372;refseq.end=169570460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_002022;refseq.name2=FMO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G372S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-67;refseq.start=169570460;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 169872010 . T C 209.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=98.98;MQ0=0;OQ=6575.82;QD=19.51;RankSumP=0.378597;SB=-2275.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1193A>G;refseq.codonCoord=398;refseq.end=169872010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_000261;refseq.name2=MYOC;refseq.positionType=CDS;refseq.proteinCoordStr=p.K398R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=463;refseq.start=169872010;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 170017859 . T C 342.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.70;MQ0=0;OQ=6586.89;QD=20.78;RankSumP=0.489499;SB=-2612.02;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.129T>C;refseq.codingCoordStr_3=c.129T>C;refseq.codonCoord_2=43;refseq.codonCoord_3=43;refseq.end_1=170019492;refseq.end_2=170017859;refseq.end_3=170017859;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=476;refseq.mrnaCoord_3=476;refseq.name2_1=METTL13;refseq.name2_2=METTL13;refseq.name2_3=METTL13;refseq.name_1=NM_014955;refseq.name_2=NM_001007239;refseq.name_3=NM_015935;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H43H;refseq.proteinCoordStr_3=p.H43H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=170017569;refseq.start_2=170017859;refseq.start_3=170017859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr1 170021805 . G A 224.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.97;MQ0=0;OQ=1961.68;QD=14.32;RankSumP=0.0777742;SB=-808.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.609G>A;refseq.codingCoordStr_2=c.819G>A;refseq.codingCoordStr_3=c.1077G>A;refseq.codonCoord_1=203;refseq.codonCoord_2=273;refseq.codonCoord_3=359;refseq.end_1=170021805;refseq.end_2=170021805;refseq.end_3=170021805;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=956;refseq.mrnaCoord_2=1099;refseq.mrnaCoord_3=1424;refseq.name2_1=METTL13;refseq.name2_2=METTL13;refseq.name2_3=METTL13;refseq.name_1=NM_001007239;refseq.name_2=NM_014955;refseq.name_3=NM_015935;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M203I;refseq.proteinCoordStr_2=p.M273I;refseq.proteinCoordStr_3=p.M359I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=170021805;refseq.start_2=170021805;refseq.start_3=170021805;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/0 chr1 170030172 . C T 326.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=3148.55;QD=17.49;RankSumP=0.434926;SB=-1268.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1239C>T;refseq.codingCoordStr_2=c.1449C>T;refseq.codingCoordStr_3=c.1707C>T;refseq.codonCoord_1=413;refseq.codonCoord_2=483;refseq.codonCoord_3=569;refseq.end_1=170030172;refseq.end_2=170030172;refseq.end_3=170030172;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1586;refseq.mrnaCoord_2=1729;refseq.mrnaCoord_3=2054;refseq.name2_1=METTL13;refseq.name2_2=METTL13;refseq.name2_3=METTL13;refseq.name_1=NM_001007239;refseq.name_2=NM_014955;refseq.name_3=NM_015935;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y413Y;refseq.proteinCoordStr_2=p.Y483Y;refseq.proteinCoordStr_3=p.Y569Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=170030172;refseq.start_2=170030172;refseq.start_3=170030172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 0/1 chr1 170677590 . G A 183.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=4903.23;QD=20.52;RankSumP=0.440151;SB=-1822.19;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.796C>T;refseq.codingCoordStr_3=c.796C>T;refseq.codonCoord_2=266;refseq.codonCoord_3=266;refseq.end_1=170680825;refseq.end_2=170677590;refseq.end_3=170677590;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1130;refseq.mrnaCoord_3=1107;refseq.name2_1=C1orf105;refseq.name2_2=PIGC;refseq.name2_3=PIGC;refseq.name_1=NM_139240;refseq.name_2=NM_002642;refseq.name_3=NM_153747;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P266S;refseq.proteinCoordStr_3=p.P266S;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_2=-371;refseq.spliceDist_3=-371;refseq.start_1=170656680;refseq.start_2=170677590;refseq.start_3=170677590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/0 chr1 170678119 . A G 156.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=88.09;MQ0=0;OQ=1927.61;QD=14.83;RankSumP=0.0571277;SB=-739.56;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.267T>C;refseq.codingCoordStr_3=c.267T>C;refseq.codonCoord_2=89;refseq.codonCoord_3=89;refseq.end_1=170680825;refseq.end_2=170678119;refseq.end_3=170678119;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=601;refseq.mrnaCoord_3=578;refseq.name2_1=C1orf105;refseq.name2_2=PIGC;refseq.name2_3=PIGC;refseq.name_1=NM_139240;refseq.name_2=NM_002642;refseq.name_3=NM_153747;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G89G;refseq.proteinCoordStr_3=p.G89G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_2=498;refseq.spliceDist_3=475;refseq.start_1=170656680;refseq.start_2=170678119;refseq.start_3=170678119;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 0/1 chr1 170704215 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=3;HaplotypeScore=28.83;MQ=98.84;MQ0=0;OQ=10877.24;QD=19.81;RankSumP=0.386207;SB=-2816.16;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.410G>A;refseq.codonCoord=137;refseq.end=170704215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_139240;refseq.name2=C1orf105;refseq.positionType=CDS;refseq.proteinCoordStr=p.S137N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=170704215;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 170814088 . A G 205.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=14.52;MQ=98.71;MQ0=0;OQ=5913.43;QD=22.31;RankSumP=0.435278;SB=-1569.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1368A>G;refseq.codingCoordStr_2=c.1236A>G;refseq.codonCoord_1=456;refseq.codonCoord_2=412;refseq.end_1=170814088;refseq.end_2=170814088;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1684;refseq.mrnaCoord_2=1495;refseq.name2_1=C1orf9;refseq.name2_2=C1orf9;refseq.name_1=NM_014283;refseq.name_2=NM_016227;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E456E;refseq.proteinCoordStr_2=p.E412E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=170814088;refseq.start_2=170814088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr1 171739088 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.72;MQ0=0;OQ=1525.97;QD=15.26;RankSumP=0.490438;SB=-654.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3311C>T;refseq.codonCoord=1104;refseq.end=171739088;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3734;refseq.name=NM_178527;refseq.name2=SLC9A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1104V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=171739088;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 172039203 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.622T>G;refseq.codingCoordStr_2=c.484T>G;refseq.codingCoordStr_3=c.484T>G;refseq.codonCoord_1=208;refseq.codonCoord_2=162;refseq.codonCoord_3=162;refseq.end_1=172039203;refseq.end_2=172039203;refseq.end_3=172039203;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1225;refseq.mrnaCoord_2=698;refseq.mrnaCoord_3=1087;refseq.name2_1=CENPL;refseq.name2_2=CENPL;refseq.name2_3=CENPL;refseq.name_1=NM_001127181;refseq.name_2=NM_001171182;refseq.name_3=NM_033319;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F208V;refseq.proteinCoordStr_2=p.F162V;refseq.proteinCoordStr_3=p.F162V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=172039203;refseq.start_2=172039203;refseq.start_3=172039203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=FilteredInAll GT 0/1 chr1 172145455 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=806;Dels=0.00;HRun=1;HaplotypeScore=29.28;MQ=98.20;MQ0=0;OQ=15477.12;QD=19.20;RankSumP=0.205044;SB=-5867.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1011A>G;refseq.codonCoord=337;refseq.end=172145455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_000488;refseq.name2=SERPINC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q337Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-143;refseq.start=172145455;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 172145485 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=642;Dels=0.00;HRun=1;HaplotypeScore=15.61;MQ=98.50;MQ0=0;OQ=12636.13;QD=19.68;RankSumP=0.355909;SB=-3704.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.981A>G;refseq.codonCoord=327;refseq.end=172145485;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_000488;refseq.name2=SERPINC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V327V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-173;refseq.start=172145485;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 173313412 . A G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=150;Dels=0.00;HRun=3;HaplotypeScore=2.70;MQ=98.74;MQ0=0;OQ=4841.44;QD=32.28;RankSumP=1.00000;SB=-2157.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.235A>G;refseq.codonCoord=79;refseq.end=173313412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R79G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-175;refseq.start=173313412;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr1 173321171 . C T 315.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.12;MQ0=0;OQ=1846.00;QD=34.83;RankSumP=1.00000;SB=-359.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1242C>T;refseq.codonCoord=414;refseq.end=173321171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1355;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H414H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=173321171;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 173354352 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=21.79;MQ=92.68;MQ0=0;OQ=8513.13;QD=25.88;RankSumP=1.00000;SB=-1600.48;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2419T>C;refseq.codonCoord=807;refseq.end=173354352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2532;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.W807R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=33;refseq.start=173354352;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr1 173359297 . C T 281.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=98.45;MQ0=0;OQ=16486.80;QD=40.31;RankSumP=1.00000;SB=-6918.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2789C>T;refseq.codonCoord=930;refseq.end=173359297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2902;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P930L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-126;refseq.start=173359297;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 173359330 . C T 344.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=10.28;MQ=98.12;MQ0=0;OQ=7537.06;QD=19.68;RankSumP=0.234226;SB=-2850.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2822C>T;refseq.codonCoord=941;refseq.end=173359330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2935;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T941M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-93;refseq.start=173359330;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 173380201 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=555;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=98.71;MQ0=0;OQ=19272.63;QD=34.73;RankSumP=1.00000;SB=-9455.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3651T>C;refseq.codonCoord=1217;refseq.end=173380201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3764;refseq.name=NM_022093;refseq.name2=TNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1217N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=56;refseq.start=173380201;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 173565924 . T C 144.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=98.79;MQ0=0;OQ=2878.22;QD=13.26;RankSumP=0.263604;SB=-852.46;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3702A>G;refseq.codonCoord=1234;refseq.end=173565924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4257;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1234Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=71;refseq.start=173565924;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 173591274 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=98.00;MQ0=0;OQ=3090.93;QD=11.24;RankSumP=0.164011;SB=-551.18;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3237T>C;refseq.codonCoord=1079;refseq.end=173591274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3792;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1079D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-13;refseq.start=173591274;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr1 173615346 . C T 178.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=9.02;MQ=98.68;MQ0=0;OQ=12058.94;QD=42.46;RankSumP=1.00000;SB=-5425.60;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1928G>A;refseq.codonCoord=643;refseq.end=173615346;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2483;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R643K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-36;refseq.start=173615346;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 173622014 . A G 239.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=98.61;MQ0=0;OQ=4095.49;QD=36.57;RankSumP=1.00000;SB=-1988.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1554T>C;refseq.codonCoord=518;refseq.end=173622014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T518T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=47;refseq.start=173622014;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 173642092 . C A 101.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=432;Dels=0.00;HRun=1;HaplotypeScore=11.15;MQ=98.49;MQ0=0;OQ=6966.85;QD=16.13;RankSumP=0.00126640;SB=-2370.92;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.382G>T;refseq.codonCoord=128;refseq.end=173642092;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A128S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-118;refseq.start=173642092;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 1/0 chr1 173642306 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=738;Dels=0.00;HRun=0;HaplotypeScore=14.84;MQ=98.82;MQ0=0;OQ=25338.35;QD=34.33;RankSumP=1.00000;SB=-10052.63;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.168A>G;refseq.codonCoord=56;refseq.end=173642306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T56T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=231;refseq.start=173642306;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 173642425 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=622;Dels=0.00;HRun=0;HaplotypeScore=9.69;MQ=98.76;MQ0=0;OQ=23360.39;QD=37.56;RankSumP=1.00000;SB=-9889.27;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.49A>G;refseq.codonCoord=17;refseq.end=173642425;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=604;refseq.name=NM_003285;refseq.name2=TNR;refseq.positionType=CDS;refseq.proteinCoordStr=p.I17V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=112;refseq.start=173642425;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 174204163 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=19.36;MQ=98.65;MQ0=0;OQ=17837.22;QD=35.67;RankSumP=1.00000;SB=-8563.46;SecondBestBaseQ=0;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.end_1=174222691;refseq.end_2=174222691;refseq.end_3=174204163;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=137;refseq.name2_1=RFWD2;refseq.name2_2=RFWD2;refseq.name2_3=SCARNA3;refseq.name_1=NM_001001740;refseq.name_2=NM_022457;refseq.name_3=NR_002998;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=174183009;refseq.start_2=174183009;refseq.start_3=174204163;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chr1 174926086 . C T 292.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=7.25;MQ=98.61;MQ0=0;OQ=9274.22;QD=38.64;RankSumP=1.00000;SB=-3007.05;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2328C>T;refseq.codingCoordStr_2=c.2328C>T;refseq.codonCoord_1=776;refseq.codonCoord_2=776;refseq.end_1=174926086;refseq.end_2=174926086;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3492;refseq.mrnaCoord_2=3492;refseq.name2_1=PAPPA2;refseq.name2_2=PAPPA2;refseq.name_1=NM_020318;refseq.name_2=NM_021936;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P776P;refseq.proteinCoordStr_2=p.P776P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-104;refseq.spliceDist_2=191;refseq.start_1=174926086;refseq.start_2=174926086;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr1 175075991 . C T 336.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.23;MQ0=0;OQ=11718.80;QD=38.68;RankSumP=1.00000;SB=-4433.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5262C>T;refseq.codonCoord=1754;refseq.end=175075991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6426;refseq.name=NM_020318;refseq.name2=PAPPA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1754D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-40;refseq.start=175075991;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 175130459 . G C 307 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.77;MQ0=0;OQ=3819.80;QD=38.98;RankSumP=1.00000;SB=-1827.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2802C>G;refseq.codingCoordStr_2=c.2802C>G;refseq.codonCoord_1=934;refseq.codonCoord_2=934;refseq.end_1=175130459;refseq.end_2=175130459;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3014;refseq.mrnaCoord_2=3014;refseq.name2_1=ASTN1;refseq.name2_2=ASTN1;refseq.name_1=NM_004319;refseq.name_2=NM_207108;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H934Q;refseq.proteinCoordStr_2=p.H934Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=131;refseq.spliceDist_2=131;refseq.start_1=175130459;refseq.start_2=175130459;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr1 175130490 . T C 289.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.54;MQ0=0;OQ=2550.31;QD=33.56;RankSumP=1.00000;SB=-1170.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2771A>G;refseq.codingCoordStr_2=c.2771A>G;refseq.codonCoord_1=924;refseq.codonCoord_2=924;refseq.end_1=175130490;refseq.end_2=175130490;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2983;refseq.mrnaCoord_2=2983;refseq.name2_1=ASTN1;refseq.name2_2=ASTN1;refseq.name_1=NM_004319;refseq.name_2=NM_207108;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H924R;refseq.proteinCoordStr_2=p.H924R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=175130490;refseq.start_2=175130490;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr1 175259176 . A G 165.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.75;MQ0=0;OQ=1131.73;QD=31.44;RankSumP=1.00000;SB=-418.49;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1425T>C;refseq.codingCoordStr_2=c.1425T>C;refseq.codonCoord_1=475;refseq.codonCoord_2=475;refseq.end_1=175259176;refseq.end_2=175259176;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1637;refseq.mrnaCoord_2=1637;refseq.name2_1=ASTN1;refseq.name2_2=ASTN1;refseq.name_1=NM_004319;refseq.name_2=NM_207108;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C475C;refseq.proteinCoordStr_2=p.C475C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=175259176;refseq.start_2=175259176;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr1 175259299 . C T 357.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=98.23;MQ0=0;OQ=7932.73;QD=39.66;RankSumP=1.00000;SB=-2975.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1302G>A;refseq.codingCoordStr_2=c.1302G>A;refseq.codonCoord_1=434;refseq.codonCoord_2=434;refseq.end_1=175259299;refseq.end_2=175259299;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1514;refseq.mrnaCoord_2=1514;refseq.name2_1=ASTN1;refseq.name2_2=ASTN1;refseq.name_1=NM_004319;refseq.name_2=NM_207108;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q434Q;refseq.proteinCoordStr_2=p.Q434Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=175259299;refseq.start_2=175259299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr1 175296967 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.341A>G;refseq.codingCoordStr_2=c.341A>G;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=175296967;refseq.end_2=175296967;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=553;refseq.mrnaCoord_2=553;refseq.name2_1=ASTN1;refseq.name2_2=ASTN1;refseq.name_1=NM_004319;refseq.name_2=NM_207108;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E114G;refseq.proteinCoordStr_2=p.E114G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=175296967;refseq.start_2=175296967;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 175514477 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=890.48;QD=12.37;RankSumP=0.0934631;SB=-324.94;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1168C>G;refseq.codonCoord=390;refseq.end=175514477;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_021165;refseq.name2=FAM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L390V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-68;refseq.start=175514477;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 175516719 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1784G>C;refseq.codonCoord=595;refseq.end=175516719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2096;refseq.name=NM_021165;refseq.name2=FAM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G595A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=549;refseq.start=175516719;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 176756601 . T G 100.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.75;MQ0=0;OQ=3212.38;QD=36.50;RankSumP=1.00000;SB=-1390.14;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.536T>G;refseq.codingCoordStr_2=c.512T>G;refseq.codingCoordStr_3=c.512T>G;refseq.codingCoordStr_4=c.512T>G;refseq.codonCoord_1=179;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.codonCoord_4=171;refseq.end_1=176756601;refseq.end_2=176756601;refseq.end_3=176756601;refseq.end_4=176756601;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=648;refseq.mrnaCoord_2=624;refseq.mrnaCoord_3=624;refseq.mrnaCoord_4=624;refseq.name2_1=C1orf49;refseq.name2_2=C1orf49;refseq.name2_3=C1orf49;refseq.name2_4=C1orf49;refseq.name_1=NM_001170722;refseq.name_2=NM_001170723;refseq.name_3=NM_001170724;refseq.name_4=NM_032126;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L179R;refseq.proteinCoordStr_2=p.L171R;refseq.proteinCoordStr_3=p.L171R;refseq.proteinCoordStr_4=p.L171R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.spliceDist_4=-32;refseq.start_1=176756601;refseq.start_2=176756601;refseq.start_3=176756601;refseq.start_4=176756601;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr1 176781245 . C T 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.30;MQ0=0;OQ=604.96;QD=28.81;RankSumP=0.222265;SB=-52.66;SecondBestBaseQ=34;refseq.chr=chr1;refseq.end=176781245;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=365;refseq.name=NR_033186;refseq.name2=C1orf220;refseq.positionType=non_coding_exon;refseq.spliceDist=275;refseq.start=176781245;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr1 177012570 . T G 140.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=8.09;MQ=98.49;MQ0=0;OQ=8843.61;QD=39.30;RankSumP=1.00000;SB=-2183.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.48T>G;refseq.codonCoord=16;refseq.end=177012570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_152663;refseq.name2=RALGPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T16T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=177012570;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 177047112 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0494869;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.337A>G;refseq.codonCoord=113;refseq.end=177047112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_152663;refseq.name2=RALGPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T113A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=40;refseq.start=177047112;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr1 177317923 . T C 104.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=310.42;QD=31.04;RankSumP=1.00000;SB=-171.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.37T>C;refseq.codonCoord=13;refseq.end=177317923;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_022371;refseq.name2=TOR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F13L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=189;refseq.start=177317923;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 177318703 . C G 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.514668;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.265C>G;refseq.codonCoord=89;refseq.end=177318703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_022371;refseq.name2=TOR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R89G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=177318703;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/0 chr1 177321643 . C T 245.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=6.73;MQ=98.77;MQ0=0;OQ=4035.99;QD=19.98;RankSumP=0.319356;SB=-1507.91;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.631C>T;refseq.codonCoord=211;refseq.end=177321643;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_022371;refseq.name2=TOR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=177321643;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 177344720 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.codingCoordStr_5=c.2242A>C;refseq.codingCoordStr_6=c.2260A>C;refseq.codingCoordStr_7=c.2305A>C;refseq.codonCoord_5=748;refseq.codonCoord_6=754;refseq.codonCoord_7=769;refseq.end_1=177344955;refseq.end_2=177344955;refseq.end_3=177344955;refseq.end_4=177344955;refseq.end_5=177344720;refseq.end_6=177344720;refseq.end_7=177344720;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_5=2529;refseq.mrnaCoord_6=2305;refseq.mrnaCoord_7=2592;refseq.name2_1=ABL2;refseq.name2_2=ABL2;refseq.name2_3=ABL2;refseq.name2_4=ABL2;refseq.name2_5=ABL2;refseq.name2_6=ABL2;refseq.name2_7=ABL2;refseq.name_1=NM_001136000;refseq.name_2=NM_001168237;refseq.name_3=NM_001168238;refseq.name_4=NM_001168239;refseq.name_5=NM_001168236;refseq.name_6=NM_005158;refseq.name_7=NM_007314;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.T748P;refseq.proteinCoordStr_6=p.T754P;refseq.proteinCoordStr_7=p.T769P;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.spliceDist_5=480;refseq.spliceDist_6=480;refseq.spliceDist_7=480;refseq.start_1=177344667;refseq.start_2=177344667;refseq.start_3=177344667;refseq.start_4=177344667;refseq.start_5=177344720;refseq.start_6=177344720;refseq.start_7=177344720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;set=FilteredInAll GT 1/0 chr1 177576885 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=1;HaplotypeScore=17.89;MQ=98.91;MQ0=0;OQ=8552.10;QD=17.60;RankSumP=0.0136148;SB=-1648.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.597C>T;refseq.codonCoord=199;refseq.end=177576885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_003101;refseq.name2=SOAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P199P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=100;refseq.start=177576885;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 177614455 . T C 321.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=13.57;MQ=98.78;MQ0=0;OQ=6908.04;QD=18.04;RankSumP=0.109288;SB=-2464.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=177614455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_144696;refseq.name2=C1orf125;refseq.positionType=CDS;refseq.proteinCoordStr=p.V145V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-61;refseq.start=177614455;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 177770660 . G C 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.145993;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2971G>C;refseq.codonCoord=991;refseq.end=177770660;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3358;refseq.name=NM_144696;refseq.name2=C1orf125;refseq.positionType=CDS;refseq.proteinCoordStr=p.E991Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-61;refseq.start=177770660;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr1 177770666 rs6658180 C G 206.96 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.96;MQ0=0;OQ=1413.89;QD=16.07;SB=-603.61;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2977C>G;refseq.codonCoord=993;refseq.end=177770666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3364;refseq.name=NM_144696;refseq.name2=C1orf125;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q993E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-55;refseq.start=177770666;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=gatk GT:AD:DP:GL:GQ 0/1:52,36:83:-169.66,-24.99,-239.48:99 chr1 177787129 . G A 161.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=15.41;MQ=98.53;MQ0=0;OQ=14901.91;QD=40.49;RankSumP=1.00000;SB=-5975.92;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.954C>T;refseq.codonCoord_2=318;refseq.end_1=177790259;refseq.end_2=177787129;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1039;refseq.name2_1=C1orf125;refseq.name2_2=NPHS2;refseq.name_1=NM_144696;refseq.name_2=NM_014625;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A318A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=81;refseq.start_1=177770731;refseq.start_2=177787129;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr1 177788395 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.839T>G;refseq.codonCoord_2=280;refseq.end_1=177790259;refseq.end_2=177788395;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=924;refseq.name2_1=C1orf125;refseq.name2_2=NPHS2;refseq.name_1=NM_144696;refseq.name_2=NM_014625;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V280G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-35;refseq.start_1=177770731;refseq.start_2=177788395;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 177811521 . T C 46.28 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=2;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.14;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.102A>G;refseq.codonCoord=34;refseq.end=177811521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_014625;refseq.name2=NPHS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G34G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-173;refseq.start=177811521;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/1 chr1 177866624 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=2;HaplotypeScore=18.79;MQ=98.74;MQ0=0;OQ=7510.31;QD=19.46;RankSumP=0.396392;SB=-2275.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1072A>G;refseq.codonCoord=358;refseq.end=177866624;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1322;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K358E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-55;refseq.start=177866624;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 177866665 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=430;Dels=0.00;HRun=2;HaplotypeScore=5.57;MQ=98.49;MQ0=0;OQ=8449.74;QD=19.65;RankSumP=0.421012;SB=-3421.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1113G>A;refseq.codonCoord=371;refseq.end=177866665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K371K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-14;refseq.start=177866665;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr1 177871487 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.86;MQ0=0;OQ=2133.36;QD=10.46;RankSumP=0.405313;SB=-967.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1362C>T;refseq.codonCoord=454;refseq.end=177871487;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D454D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=63;refseq.start=177871487;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 177887847 . G A 350.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=7.88;MQ=98.92;MQ0=0;OQ=5493.58;QD=17.61;RankSumP=0.0414356;SB=-2204.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2052G>A;refseq.codonCoord=684;refseq.end=177887847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G684G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=51;refseq.start=177887847;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 177897865 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=1;HaplotypeScore=20.53;MQ=98.93;MQ0=0;OQ=10582.56;QD=19.74;RankSumP=0.255168;SB=-2877.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2164G>A;refseq.codonCoord=722;refseq.end=177897865;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2414;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E722K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=177897865;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 177899159 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=309;Dels=0.00;HRun=2;HaplotypeScore=15.29;MQ=98.97;MQ0=0;OQ=5151.51;QD=16.67;RankSumP=0.344531;SB=-1449.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2397A>G;refseq.codonCoord=799;refseq.end=177899159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2647;refseq.name=NM_173533;refseq.name2=TDRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S799S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=54;refseq.start=177899159;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 178049718 . C G 23 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=1.10646e-06;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.275C>G;refseq.codonCoord=92;refseq.end=178049718;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_173509;refseq.name2=FAM163A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A92G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=182;refseq.start=178049718;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 178082553 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=5.75443e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.689T>G;refseq.codonCoord=230;refseq.end=178082553;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1084;refseq.name=NM_145034;refseq.name2=TOR1AIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V230G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=34;refseq.start=178082553;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 178118697 . T C 174.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.83;MQ0=0;OQ=1313.91;QD=13.98;RankSumP=0.230017;SB=-442.69;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.437T>C;refseq.codonCoord=146;refseq.end=178118697;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_015602;refseq.name2=TOR1AIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M146T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-39;refseq.start=178118697;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 178143611 . C G 182.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=98.45;MQ0=0;OQ=4642.07;QD=24.69;RankSumP=0.237471;SB=-1767.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.827C>G;refseq.codonCoord=276;refseq.end=178143611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_015602;refseq.name2=TOR1AIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P276R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-12;refseq.start=178143611;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr1 178153748 . G A 241.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.78;MQ0=0;OQ=15560.02;QD=43.10;RankSumP=1.00000;SB=-7745.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1503G>A;refseq.codonCoord=501;refseq.end=178153748;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1721;refseq.name=NM_015602;refseq.name2=TOR1AIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A501A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=539;refseq.start=178153748;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 178411696 . T G 71 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=2;RankSumP=0.000737901;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.420T>G;refseq.codingCoordStr_2=c.420T>G;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=178411696;refseq.end_2=178411696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=495;refseq.mrnaCoord_2=495;refseq.name2_1=QSOX1;refseq.name2_2=QSOX1;refseq.name_1=NM_001004128;refseq.name_2=NM_002826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G140G;refseq.proteinCoordStr_2=p.G140G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=178411696;refseq.start_2=178411696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 178411711 . A G 178.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=13;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=12.06;MQ=92.93;MQ0=0;OQ=884.10;QD=14.49;RankSumP=1.00000;SB=-252.70;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.435A>G;refseq.codingCoordStr_2=c.435A>G;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=178411711;refseq.end_2=178411711;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=510;refseq.mrnaCoord_2=510;refseq.name2_1=QSOX1;refseq.name2_2=QSOX1;refseq.name_1=NM_001004128;refseq.name_2=NM_002826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T145T;refseq.proteinCoordStr_2=p.T145T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=178411711;refseq.start_2=178411711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr1 178414557 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.521A>G;refseq.codingCoordStr_2=c.521A>G;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.end_1=178414557;refseq.end_2=178414557;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=596;refseq.mrnaCoord_2=596;refseq.name2_1=QSOX1;refseq.name2_2=QSOX1;refseq.name_1=NM_001004128;refseq.name_2=NM_002826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E174G;refseq.proteinCoordStr_2=p.E174G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=178414557;refseq.start_2=178414557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 178432322 . A C 138.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.82;MQ0=0;OQ=1586.69;QD=13.45;RankSumP=0.0264504;SB=-698.96;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1771A>C;refseq.codingCoordStr_2=c.1771A>C;refseq.codonCoord_1=591;refseq.codonCoord_2=591;refseq.end_1=178432322;refseq.end_2=178432322;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1846;refseq.mrnaCoord_2=1846;refseq.name2_1=QSOX1;refseq.name2_2=QSOX1;refseq.name_1=NM_001004128;refseq.name_2=NM_002826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N591H;refseq.proteinCoordStr_2=p.N591H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-36;refseq.spliceDist_2=303;refseq.start_1=178432322;refseq.start_2=178432322;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr1 178502351 . C T 188.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.23;MQ0=0;OQ=1185.54;QD=16.94;RankSumP=0.140108;SB=-207.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.450C>T;refseq.codonCoord=150;refseq.end=178502351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_033343;refseq.name2=LHX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N150N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=178502351;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 178507594 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.39878e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.608T>G;refseq.codonCoord=203;refseq.end=178507594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_033343;refseq.name2=LHX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V203G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=178507594;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr1 178510147 . A G 299.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.57;MQ0=0;OQ=3834.58;QD=20.95;RankSumP=0.261261;SB=-1265.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.983A>G;refseq.codonCoord=328;refseq.end=178510147;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_033343;refseq.name2=LHX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N328S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=205;refseq.start=178510147;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 179152053 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.80;MQ0=0;OQ=3194.44;QD=35.89;RankSumP=1.00000;SB=-1102.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.191T>C;refseq.codonCoord=64;refseq.end=179152053;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_020950;refseq.name2=KIAA1614;refseq.positionType=CDS;refseq.proteinCoordStr=p.L64P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=141;refseq.start=179152053;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 179171975 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=13.20;MQ=98.80;MQ0=0;OQ=3112.36;QD=12.60;RankSumP=0.274554;SB=-680.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2307C>T;refseq.codonCoord=769;refseq.end=179171975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2374;refseq.name=NM_020950;refseq.name2=KIAA1614;refseq.positionType=CDS;refseq.proteinCoordStr=p.S769S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-455;refseq.start=179171975;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 179172071 . G T 133.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=5.76;MQ=98.50;MQ0=0;OQ=4626.61;QD=16.95;RankSumP=0.367036;SB=-1223.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2403G>T;refseq.codonCoord=801;refseq.end=179172071;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2470;refseq.name=NM_020950;refseq.name2=KIAA1614;refseq.positionType=CDS;refseq.proteinCoordStr=p.L801F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-359;refseq.start=179172071;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr1 179180220 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=195;Dels=0.00;HRun=4;HaplotypeScore=13.40;MQ=98.59;MQ0=0;OQ=6227.26;QD=31.93;RankSumP=1.00000;SB=-3087.15;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3232A>G;refseq.codonCoord=1078;refseq.end=179180220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3299;refseq.name=NM_020950;refseq.name2=KIAA1614;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1078D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-56;refseq.start=179180220;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 179220476 . A G 307.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=98.96;MQ0=0;OQ=7362.78;QD=35.92;RankSumP=1.00000;SB=-3307.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.651T>C;refseq.codonCoord=217;refseq.end=179220476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_005819;refseq.name2=STX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N217N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=179220476;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 179284859 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=13.95;MQ=33.31;MQ0=96;OQ=1239.56;QD=6.92;RankSumP=0.379991;SB=-425.95;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.116A>G;refseq.codonCoord=39;refseq.end=179284859;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=121;refseq.name=NM_001531;refseq.name2=MR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H39R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=49;refseq.start=179284859;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 179288106 . C T 238.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.99;MQ0=0;OQ=3051.80;QD=17.85;RankSumP=0.196068;SB=-1153.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.717C>T;refseq.codonCoord=239;refseq.end=179288106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_001531;refseq.name2=MR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N239N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=113;refseq.start=179288106;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 179324936 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.79;MQ0=0;OQ=353.33;QD=17.67;RankSumP=0.257393;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.275G>A;refseq.codonCoord=92;refseq.end=179324936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_016545;refseq.name2=IER5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R92H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=676;refseq.start=179324936;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 180293436 . G C 111.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=2979.29;QD=20.00;RankSumP=0.217836;SB=-738.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.333C>G;refseq.codonCoord=111;refseq.end=180293436;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_001009992;refseq.name2=ZNF648;refseq.positionType=CDS;refseq.proteinCoordStr=p.N111K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=396;refseq.start=180293436;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr1 180293645 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=461;Dels=0.00;HRun=1;HaplotypeScore=22.36;MQ=98.62;MQ0=0;OQ=9347.99;QD=20.28;RankSumP=0.00277705;SB=-3856.30;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.124G>A;refseq.codonCoord=42;refseq.end=180293645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001009992;refseq.name2=ZNF648;refseq.positionType=CDS;refseq.proteinCoordStr=p.E42K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=187;refseq.start=180293645;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 0/1 chr1 180811204 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=2;HaplotypeScore=2.10;MQ=98.63;MQ0=0;OQ=2903.70;QD=17.18;RankSumP=5.64839e-06;SB=-1374.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2172G>A;refseq.codonCoord=724;refseq.end=180811204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2339;refseq.name=NM_021133;refseq.name2=RNASEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K724K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=133;refseq.start=180811204;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 0/1 chr1 180817960 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=565.24;QD=12.56;RankSumP=0.622449;SB=-240.33;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1623T>G;refseq.codonCoord=541;refseq.end=180817960;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1790;refseq.name=NM_021133;refseq.name2=RNASEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D541E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=57;refseq.start=180817960;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr1 180821180 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=3;HaplotypeScore=4.90;MQ=98.68;MQ0=0;OQ=5351.06;QD=21.58;RankSumP=0.411710;SB=-2149.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1385G>A;refseq.codonCoord=462;refseq.end=180821180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1552;refseq.name=NM_021133;refseq.name2=RNASEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R462Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-96;refseq.start=180821180;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr1 180822187 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.53557e-09;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.378C>T;refseq.codonCoord=126;refseq.end=180822187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_021133;refseq.name2=RNASEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.F126F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=545;refseq.start=180822187;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr1 180836249 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=18.34;MQ=98.66;MQ0=0;OQ=11024.13;QD=30.54;RankSumP=1.00000;SB=-2480.53;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.410A>G;refseq.codonCoord=137;refseq.end=180836249;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_002928;refseq.name2=RGS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H137R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=23;refseq.start=180836249;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr1 180837878 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.233C>G;refseq.codonCoord=78;refseq.end=180837878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_002928;refseq.name2=RGS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A78G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=13;refseq.start=180837878;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 181052505 . C G 38.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=4;DP=190;Dels=0.00;HRun=1;HaplotypeScore=48.25;MQ=96.96;MQ0=0;QD=0.20;RankSumP=0.272879;SB=8.06;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.398C>G;refseq.codonCoord=133;refseq.end=181052505;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_030769;refseq.name2=NPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=34;refseq.start=181052505;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/0 chr1 181117350 . T C 340.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=4.73;MQ=98.86;MQ0=0;OQ=7551.09;QD=41.26;RankSumP=1.00000;SB=-3088.89;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.2859T>C;refseq.codonCoord_2=953;refseq.end_1=181117350;refseq.end_2=181117350;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3171;refseq.mrnaCoord_2=3034;refseq.name2_1=DHX9;refseq.name2_2=DHX9;refseq.name_1=NR_033302;refseq.name_2=NM_001357;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T953T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=181117350;refseq.start_2=181117350;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr1 181122940 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.3561T>G;refseq.codonCoord_2=1187;refseq.end_1=181122940;refseq.end_2=181122940;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3873;refseq.mrnaCoord_2=3736;refseq.name2_1=DHX9;refseq.name2_2=DHX9;refseq.name_1=NR_033302;refseq.name_2=NM_001357;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G1187G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=181122940;refseq.start_2=181122940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 181259648 . C T 111.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=2.86;MQ=98.21;MQ0=0;OQ=2284.76;QD=17.05;RankSumP=0.230116;SB=-1150.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.174C>T;refseq.codonCoord=58;refseq.end=181259648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A58A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-245;refseq.start=181259648;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr1 181339213 . T C 295.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.09;MQ0=0;OQ=2555.45;QD=15.97;RankSumP=0.322148;SB=-1183.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=181339213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C182C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=128;refseq.start=181339213;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr1 181352378 . A G 135.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.78;MQ0=0;OQ=11071.18;QD=21.17;RankSumP=0.377019;SB=-4369.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1372A>G;refseq.codonCoord=458;refseq.end=181352378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1629;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I458V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=44;refseq.start=181352378;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr1 181353380 . A C 142.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=424;Dels=0.00;HRun=1;HaplotypeScore=3.62;MQ=98.76;MQ0=0;OQ=7217.97;QD=17.02;RankSumP=0.0164235;SB=-2523.48;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1776A>C;refseq.codonCoord=592;refseq.end=181353380;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2033;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A592A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=89;refseq.start=181353380;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 181357852 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=296;Dels=0.00;HRun=2;HaplotypeScore=33.56;MQ=97.89;MQ0=0;OQ=141.18;QD=0.48;RankSumP=0.00000;SB=306.07;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2244C>G;refseq.codonCoord=748;refseq.end=181357852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2501;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G748G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=32;refseq.start=181357852;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 181360498 . T C 218.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=4.19;MQ=98.99;MQ0=0;OQ=4130.25;QD=18.36;RankSumP=0.203038;SB=-929.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2511T>C;refseq.codonCoord=837;refseq.end=181360498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2768;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N837N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=110;refseq.start=181360498;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr1 181361170 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=575;Dels=0.00;HRun=1;HaplotypeScore=13.19;MQ=98.52;MQ0=0;OQ=10167.48;QD=17.68;RankSumP=0.466708;SB=-3134.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2663T>C;refseq.codonCoord=888;refseq.end=181361170;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2920;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L888P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=16;refseq.start=181361170;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 181363152 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3113T>G;refseq.codonCoord=1038;refseq.end=181363152;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3370;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1038G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-11;refseq.start=181363152;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr1 181366183 . G A 272.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.68;MQ0=0;OQ=5641.40;QD=22.66;RankSumP=0.352795;SB=-1659.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3362G>A;refseq.codonCoord=1121;refseq.end=181366183;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3619;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1121Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=82;refseq.start=181366183;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 181372157 . T C 161.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=98.72;MQ0=0;OQ=5030.47;QD=16.28;RankSumP=0.202418;SB=-861.91;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4128T>C;refseq.codonCoord=1376;refseq.end=181372157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4385;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1376R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=14;refseq.start=181372157;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr1 181372328 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=99.00;MQ0=0;OQ=513.86;QD=11.68;RankSumP=0.348558;SB=-80.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4299G>A;refseq.codonCoord=1433;refseq.end=181372328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4556;refseq.name=NM_002293;refseq.name2=LAMC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1433A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-16;refseq.start=181372328;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 181464275 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1612T>G;refseq.codingCoordStr_2=c.1612T>G;refseq.codonCoord_1=538;refseq.codonCoord_2=538;refseq.end_1=181464275;refseq.end_2=181464275;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1926;refseq.mrnaCoord_2=1926;refseq.name2_1=LAMC2;refseq.name2_2=LAMC2;refseq.name_1=NM_005562;refseq.name_2=NM_018891;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C538G;refseq.proteinCoordStr_2=p.C538G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=181464275;refseq.start_2=181464275;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr1 181475163 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2911G>A;refseq.codingCoordStr_2=c.2911G>A;refseq.codonCoord_1=971;refseq.codonCoord_2=971;refseq.end_1=181475163;refseq.end_2=181475163;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3225;refseq.mrnaCoord_2=3225;refseq.name2_1=LAMC2;refseq.name2_2=LAMC2;refseq.name_1=NM_005562;refseq.name_2=NM_018891;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E971K;refseq.proteinCoordStr_2=p.E971K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=181475163;refseq.start_2=181475163;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr1 181522487 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.381A>C;refseq.codingCoordStr_2=c.366A>C;refseq.codonCoord_1=127;refseq.codonCoord_2=122;refseq.end_1=181522487;refseq.end_2=181522487;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=716;refseq.mrnaCoord_2=501;refseq.name2_1=NMNAT2;refseq.name2_2=NMNAT2;refseq.name_1=NM_015039;refseq.name_2=NM_170706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G127G;refseq.proteinCoordStr_2=p.G122G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=181522487;refseq.start_2=181522487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr1 181753482 . G A 100.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=517;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=98.93;MQ0=0;OQ=21297.81;QD=41.19;RankSumP=1.00000;SB=-9836.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.90G>A;refseq.codingCoordStr_2=c.216G>A;refseq.codingCoordStr_3=c.216G>A;refseq.codingCoordStr_4=c.216G>A;refseq.codonCoord_1=30;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=72;refseq.end_1=181753482;refseq.end_2=181753482;refseq.end_3=181753482;refseq.end_4=181753482;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=434;refseq.mrnaCoord_2=466;refseq.mrnaCoord_3=466;refseq.mrnaCoord_4=466;refseq.name2_1=SMG7;refseq.name2_2=SMG7;refseq.name2_3=SMG7;refseq.name2_4=SMG7;refseq.name_1=NM_001174061;refseq.name_2=NM_173156;refseq.name_3=NM_201568;refseq.name_4=NM_201569;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L30L;refseq.proteinCoordStr_2=p.L72L;refseq.proteinCoordStr_3=p.L72L;refseq.proteinCoordStr_4=p.L72L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=181753482;refseq.start_2=181753482;refseq.start_3=181753482;refseq.start_4=181753482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=Intersection GT 1/1 chr1 181753569 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.177C>T;refseq.codingCoordStr_2=c.303C>T;refseq.codingCoordStr_3=c.303C>T;refseq.codingCoordStr_4=c.303C>T;refseq.codonCoord_1=59;refseq.codonCoord_2=101;refseq.codonCoord_3=101;refseq.codonCoord_4=101;refseq.end_1=181753569;refseq.end_2=181753569;refseq.end_3=181753569;refseq.end_4=181753569;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=521;refseq.mrnaCoord_2=553;refseq.mrnaCoord_3=553;refseq.mrnaCoord_4=553;refseq.name2_1=SMG7;refseq.name2_2=SMG7;refseq.name2_3=SMG7;refseq.name2_4=SMG7;refseq.name_1=NM_001174061;refseq.name_2=NM_173156;refseq.name_3=NM_201568;refseq.name_4=NM_201569;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F59F;refseq.proteinCoordStr_2=p.F101F;refseq.proteinCoordStr_3=p.F101F;refseq.proteinCoordStr_4=p.F101F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=181753569;refseq.start_2=181753569;refseq.start_3=181753569;refseq.start_4=181753569;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=FilteredInAll GT 0/1 chr1 181883549 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=575;Dels=0.00;HRun=0;HaplotypeScore=14.08;MQ=98.85;MQ0=0;OQ=22019.83;QD=38.30;RankSumP=1.00000;SB=-9355.41;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.991A>G;refseq.codonCoord_2=331;refseq.end_1=181977873;refseq.end_2=181883549;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1263;refseq.name2_1=RGL1;refseq.name2_2=APOBEC4;refseq.name_1=NM_015149;refseq.name_2=NM_203454;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K331E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=1021;refseq.start_1=181872270;refseq.start_2=181883549;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 181883728 . A G 299.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=98.89;MQ0=0;OQ=11672.62;QD=41.25;RankSumP=1.00000;SB=-4776.58;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.812T>C;refseq.codonCoord_2=271;refseq.end_1=181977873;refseq.end_2=181883728;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1084;refseq.name2_1=RGL1;refseq.name2_2=APOBEC4;refseq.name_1=NM_015149;refseq.name_2=NM_203454;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F271S;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTT;refseq.spliceDist_2=842;refseq.start_1=181872270;refseq.start_2=181883728;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr1 181978004 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.89T>G;refseq.codonCoord=30;refseq.end=181978004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_015149;refseq.name2=RGL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V30G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-44;refseq.start=181978004;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 182290152 . A C 288.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=4.59;MQ=98.81;MQ0=0;OQ=18747.96;QD=39.39;RankSumP=1.00000;SB=-6123.67;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.177A>C;refseq.codingCoordStr_3=c.177A>C;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=182290152;refseq.end_2=182290152;refseq.end_3=182290152;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=256;refseq.mrnaCoord_2=256;refseq.mrnaCoord_3=256;refseq.name2_1=TSEN15;refseq.name2_2=TSEN15;refseq.name2_3=TSEN15;refseq.name_1=NR_023349;refseq.name_2=NM_001127394;refseq.name_3=NM_052965;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q59H;refseq.proteinCoordStr_3=p.Q59H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=182290152;refseq.start_2=182290152;refseq.start_3=182290152;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr1 182930160 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.26;MQ0=0;OQ=1097.04;QD=11.55;RankSumP=0.389693;SB=-565.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2459T>G;refseq.codonCoord=820;refseq.end=182930160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2720;refseq.name=NM_025191;refseq.name2=EDEM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I820S;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=70;refseq.start=182930160;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 182930204 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.89;MQ0=0;OQ=1343.42;QD=13.99;RankSumP=0.116881;SB=-666.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2415A>G;refseq.codonCoord=805;refseq.end=182930204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_025191;refseq.name2=EDEM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q805Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=26;refseq.start=182930204;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 182942437 . G A 180.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=98.63;MQ0=0;OQ=7132.09;QD=16.90;RankSumP=0.0170652;SB=-2789.06;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2166C>T;refseq.codonCoord=722;refseq.end=182942437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2427;refseq.name=NM_025191;refseq.name2=EDEM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N722N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-38;refseq.start=182942437;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 182944087 . G A 273.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.50;MQ0=0;OQ=5052.89;QD=18.78;RankSumP=0.314919;SB=-1592.76;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1860C>T;refseq.codonCoord=620;refseq.end=182944087;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2121;refseq.name=NM_025191;refseq.name2=EDEM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I620I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=15;refseq.start=182944087;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 183031130 . C G 61 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.25127e-07;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2391G>C;refseq.codonCoord=797;refseq.end=183031130;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2585;refseq.name=NM_052966;refseq.name2=FAM129A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P797P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=725;refseq.start=183031130;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 183031133 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2388T>C;refseq.codonCoord=796;refseq.end=183031133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2582;refseq.name=NM_052966;refseq.name2=FAM129A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S796S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=722;refseq.start=183031133;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr1 183335697 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.889A>C;refseq.codonCoord=297;refseq.end=183335697;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_007212;refseq.name2=RNF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T297P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-21;refseq.start=183335697;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr1 183386232 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=3.56691e-07;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.362G>T;refseq.codonCoord=121;refseq.end=183386232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_030934;refseq.name2=C1orf25;refseq.positionType=CDS;refseq.proteinCoordStr=p.C121F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=16;refseq.start=183386232;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr1 183410344 . A G 277.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.72;MQ0=0;OQ=2874.29;QD=15.79;RankSumP=0.363402;SB=-1273.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.442A>G;refseq.codingCoordStr_2=c.442A>G;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=183410344;refseq.end_2=183410344;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=556;refseq.mrnaCoord_2=607;refseq.name2_1=C1orf26;refseq.name2_2=C1orf26;refseq.name_1=NM_001105518;refseq.name_2=NM_017673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I148V;refseq.proteinCoordStr_2=p.I148V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=218;refseq.spliceDist_2=218;refseq.start_1=183410344;refseq.start_2=183410344;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr1 183438492 . A G 352.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.90;MQ0=0;OQ=4233.30;QD=18.25;RankSumP=0.0549740;SB=-1375.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1607A>G;refseq.codingCoordStr_2=c.1607A>G;refseq.codonCoord_1=536;refseq.codonCoord_2=536;refseq.end_1=183438492;refseq.end_2=183438492;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1721;refseq.mrnaCoord_2=1772;refseq.name2_1=C1orf26;refseq.name2_2=C1orf26;refseq.name_1=NM_001105518;refseq.name_2=NM_017673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H536R;refseq.proteinCoordStr_2=p.H536R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=183438492;refseq.start_2=183438492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr1 183507097 . A G 262.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=2414.68;QD=19.96;RankSumP=0.255153;SB=-1053.68;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2461A>G;refseq.codingCoordStr_2=c.2461A>G;refseq.codonCoord_1=821;refseq.codonCoord_2=821;refseq.end_1=183507097;refseq.end_2=183507097;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2575;refseq.mrnaCoord_2=2626;refseq.name2_1=C1orf26;refseq.name2_2=C1orf26;refseq.name_1=NM_001105518;refseq.name_2=NM_017673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N821D;refseq.proteinCoordStr_2=p.N821D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=183507097;refseq.start_2=183507097;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr1 184293097 . T C 261.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=98.85;MQ0=0;OQ=14474.57;QD=41.47;RankSumP=1.00000;SB=-6448.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7253T>C;refseq.codonCoord=2418;refseq.end=184293097;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7482;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2418T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-60;refseq.start=184293097;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 184297664 . C T 196.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.44;MQ0=0;OQ=12442.90;QD=36.17;RankSumP=1.00000;SB=-4366.89;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7371C>T;refseq.codonCoord=2457;refseq.end=184297664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7600;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2457C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-56;refseq.start=184297664;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr1 184312239 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=4.12801e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8347A>G;refseq.codonCoord=2783;refseq.end=184312239;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8576;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2783D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=57;refseq.start=184312239;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr1 184317040 . A G 339.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=98.57;MQ0=0;OQ=6052.79;QD=40.90;RankSumP=1.00000;SB=-1895.44;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8678A>G;refseq.codonCoord=2893;refseq.end=184317040;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8907;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2893G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=79;refseq.start=184317040;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr1 184318653 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=159;Dels=0.00;HRun=2;HaplotypeScore=12.94;MQ=98.29;MQ0=0;OQ=50.46;QD=0.32;RankSumP=0.00000;SB=170.57;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8821T>G;refseq.codonCoord=2941;refseq.end=184318653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9050;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2941D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=34;refseq.start=184318653;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr1 184329301 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10073C>A;refseq.codonCoord=3358;refseq.end=184329301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10302;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3358N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=61;refseq.start=184329301;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr1 184368162 . A G 191.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=1178.92;QD=17.34;RankSumP=0.407069;SB=-307.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.13310A>G;refseq.codonCoord=4437;refseq.end=184368162;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=13539;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4437R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=184368162;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr1 184381192 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.14301A>G;refseq.codonCoord=4767;refseq.end=184381192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14530;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4767G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=35;refseq.start=184381192;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 184402592 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.15469A>C;refseq.codonCoord=5157;refseq.end=184402592;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=15698;refseq.name=NM_031935;refseq.name2=HMCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T5157P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=30;refseq.start=184402592;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 184542723 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.000277132;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.1126A>C;refseq.codingCoordStr_2=c.970A>C;refseq.codingCoordStr_3=c.847A>C;refseq.codingCoordStr_4=c.1249A>C;refseq.codonCoord_1=376;refseq.codonCoord_2=324;refseq.codonCoord_3=283;refseq.codonCoord_4=417;refseq.end_1=184542723;refseq.end_2=184542723;refseq.end_3=184542723;refseq.end_4=184542723;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1177;refseq.mrnaCoord_2=1021;refseq.mrnaCoord_3=898;refseq.mrnaCoord_4=1300;refseq.name2_1=PRG4;refseq.name2_2=PRG4;refseq.name2_3=PRG4;refseq.name2_4=PRG4;refseq.name_1=NM_001127708;refseq.name_2=NM_001127709;refseq.name_3=NM_001127710;refseq.name_4=NM_005807;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T376P;refseq.proteinCoordStr_2=p.T324P;refseq.proteinCoordStr_3=p.T283P;refseq.proteinCoordStr_4=p.T417P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=651;refseq.spliceDist_2=651;refseq.spliceDist_3=651;refseq.spliceDist_4=651;refseq.start_1=184542723;refseq.start_2=184542723;refseq.start_3=184542723;refseq.start_4=184542723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr1 184543711 . G C 75.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=229;Dels=0.00;HRun=0;HaplotypeScore=6.84;MQ=80.89;MQ0=21;OQ=9248.44;QD=40.39;RankSumP=1.00000;SB=-3773.45;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.2114G>C;refseq.codingCoordStr_2=c.1958G>C;refseq.codingCoordStr_3=c.1835G>C;refseq.codingCoordStr_4=c.2237G>C;refseq.codonCoord_1=705;refseq.codonCoord_2=653;refseq.codonCoord_3=612;refseq.codonCoord_4=746;refseq.end_1=184543711;refseq.end_2=184543711;refseq.end_3=184543711;refseq.end_4=184543711;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2165;refseq.mrnaCoord_2=2009;refseq.mrnaCoord_3=1886;refseq.mrnaCoord_4=2288;refseq.name2_1=PRG4;refseq.name2_2=PRG4;refseq.name2_3=PRG4;refseq.name2_4=PRG4;refseq.name_1=NM_001127708;refseq.name_2=NM_001127709;refseq.name_3=NM_001127710;refseq.name_4=NM_005807;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C705S;refseq.proteinCoordStr_2=p.C653S;refseq.proteinCoordStr_3=p.C612S;refseq.proteinCoordStr_4=p.C746S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=-1185;refseq.spliceDist_2=-1185;refseq.spliceDist_3=-1185;refseq.spliceDist_4=-1185;refseq.start_1=184543711;refseq.start_2=184543711;refseq.start_3=184543711;refseq.start_4=184543711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;set=Intersection GT 1/1 chr1 184570198 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5064A>G;refseq.codonCoord=1688;refseq.end=184570198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5361;refseq.name=NM_003292;refseq.name2=TPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1688G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=91;refseq.start=184570198;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 184570266 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4996A>C;refseq.codonCoord=1666;refseq.end=184570266;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5293;refseq.name=NM_003292;refseq.name2=TPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1666P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=23;refseq.start=184570266;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 184914107 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=5.77296e-09;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.366C>A;refseq.codonCoord=122;refseq.end=184914107;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_000963;refseq.name2=PTGS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y122*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=53;refseq.start=184914107;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr1 185201248 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1664A>C;refseq.codonCoord=555;refseq.end=185201248;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1869;refseq.name=NM_024420;refseq.name2=PLA2G4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N555T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=85;refseq.start=185201248;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 185213492 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=514;Dels=0.00;HRun=0;HaplotypeScore=17.86;MQ=98.89;MQ0=0;OQ=8109.46;QD=15.78;RankSumP=0.232347;SB=-3155.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1909A>G;refseq.codonCoord=637;refseq.end=185213492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2114;refseq.name=NM_024420;refseq.name2=PLA2G4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I637V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-52;refseq.start=185213492;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr1 185213535 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=13.85;MQ=98.83;MQ0=0;OQ=16535.82;QD=43.06;RankSumP=1.00000;SB=-4644.53;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1952G>A;refseq.codonCoord=651;refseq.end=185213535;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2157;refseq.name=NM_024420;refseq.name2=PLA2G4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R651K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=185213535;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 190883735 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.122C>A;refseq.codingCoordStr_2=c.122C>A;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=190883735;refseq.end_2=190883735;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=403;refseq.mrnaCoord_2=363;refseq.name2_1=RGS13;refseq.name2_2=RGS13;refseq.name_1=NM_002927;refseq.name_2=NM_144766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T41K;refseq.proteinCoordStr_2=p.T41K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=190883735;refseq.start_2=190883735;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr1 191341274 . T A 208.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.42;MQ0=0;OQ=1063.73;QD=39.40;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.118A>T;refseq.codonCoord=40;refseq.end=191341274;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_016066;refseq.name2=GLRX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R40W;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=191341274;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr1 191416842 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=19.23;MQ=98.65;MQ0=0;OQ=4688.27;QD=18.31;RankSumP=0.364200;SB=-1515.09;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.474T>C;refseq.codonCoord_2=158;refseq.end_1=191439537;refseq.end_2=191416842;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1189;refseq.name2_1=CDC73;refseq.name2_2=B3GALT2;refseq.name_1=NM_024529;refseq.name_2=NM_003783;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A158A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=594;refseq.start_1=191388208;refseq.start_2=191416842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr1 194494149 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=1;HaplotypeScore=24.64;MQ=98.79;MQ0=0;OQ=15881.98;QD=40.93;RankSumP=1.00000;SB=-4513.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3009T>C;refseq.codonCoord=1003;refseq.end=194494149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3069;refseq.name=NM_198503;refseq.name2=KCNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1003D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=99;refseq.start=194494149;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 194908856 . G A 213.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=17.72;MQ=98.81;MQ0=0;OQ=5099.00;QD=16.34;RankSumP=0.434715;SB=-2043.83;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.184G>A;refseq.codingCoordStr_2=c.184G>A;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=194908856;refseq.end_2=194908856;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=424;refseq.mrnaCoord_2=424;refseq.name2_1=CFH;refseq.name2_2=CFH;refseq.name_1=NM_000186;refseq.name_2=NM_001014975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V62I;refseq.proteinCoordStr_2=p.V62I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=194908856;refseq.start_2=194908856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr1 194920947 . A C 131.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=8912.14;QD=35.79;RankSumP=1.00000;SB=-4273.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.921A>C;refseq.codingCoordStr_2=c.921A>C;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.end_1=194920947;refseq.end_2=194920947;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1161;refseq.mrnaCoord_2=1161;refseq.name2_1=CFH;refseq.name2_2=CFH;refseq.name_1=NM_000186;refseq.name_2=NM_001014975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A307A;refseq.proteinCoordStr_2=p.A307A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=194920947;refseq.start_2=194920947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr1 194925860 . C T 295.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=92.37;MQ0=5;OQ=3974.02;QD=38.96;RankSumP=1.00000;SB=-1248.38;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1204C>T;refseq.codingCoordStr_2=c.1204C>T;refseq.codonCoord_1=402;refseq.codonCoord_2=402;refseq.end_1=194925860;refseq.end_2=194925860;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1444;refseq.mrnaCoord_2=1444;refseq.name2_1=CFH;refseq.name2_2=CFH;refseq.name_1=NM_000186;refseq.name_2=NM_001014975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H402Y;refseq.proteinCoordStr_2=p.H402Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=194925860;refseq.start_2=194925860;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr1 194925965 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1309T>G;refseq.codingCoordStr_2=c.1309T>G;refseq.codonCoord_1=437;refseq.codonCoord_2=437;refseq.end_1=194925965;refseq.end_2=194925965;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1549;refseq.mrnaCoord_2=1549;refseq.name2_1=CFH;refseq.name2_2=CFH;refseq.name_1=NM_000186;refseq.name_2=NM_001014975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S437A;refseq.proteinCoordStr_2=p.S437A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=194925965;refseq.start_2=194925965;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 1/0 chr1 194949570 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=3;HaplotypeScore=11.96;MQ=98.70;MQ0=0;OQ=3162.40;QD=17.97;RankSumP=0.418742;SB=-412.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1419G>A;refseq.codonCoord=473;refseq.end=194949570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1659;refseq.name=NM_000186;refseq.name2=CFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A473A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=83;refseq.start=194949570;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 194979209 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=8.31;MQ=77.17;MQ0=22;OQ=226.78;QD=0.73;RankSumP=0.489422;SB=73.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3138C>T;refseq.codonCoord=1046;refseq.end=194979209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3378;refseq.name=NM_000186;refseq.name2=CFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1046T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=194979209;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 195024015 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=67.00;MQ0=5;OQ=446.22;QD=12.06;RankSumP=0.750000;SB=-109.57;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.477C>T;refseq.codonCoord_2=159;refseq.end_1=195025787;refseq.end_2=195024015;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=564;refseq.name2_1=CFHR3;refseq.name2_2=CFHR3;refseq.name_1=NM_001166624;refseq.name_2=NM_021023;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S159S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=47;refseq.start_1=195015737;refseq.start_2=195024015;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr1 195024093 . T C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.266667;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.555T>C;refseq.codonCoord_2=185;refseq.end_1=195025787;refseq.end_2=195024093;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=642;refseq.name2_1=CFHR3;refseq.name2_2=CFHR3;refseq.name_1=NM_001166624;refseq.name_2=NM_021023;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N185N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=-59;refseq.start_1=195015737;refseq.start_2=195024093;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr1 195024130 . T C 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.190476;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.592T>C;refseq.codonCoord_2=198;refseq.end_1=195025787;refseq.end_2=195024130;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=679;refseq.name2_1=CFHR3;refseq.name2_2=CFHR3;refseq.name_1=NM_001166624;refseq.name_2=NM_021023;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S198P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_2=-22;refseq.start_1=195015737;refseq.start_2=195024130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr1 195063861 . C T 1 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=10.63;MQ=72.37;MQ0=20;OQ=193.69;QD=1.03;RankSumP=0.298510;SB=161.73;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.469C>T;refseq.codonCoord=157;refseq.end=195063861;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_002113;refseq.name2=CFHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H157Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=39;refseq.start=195063861;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=filterInsoap-gatk GT 0/1 chr1 195063867 rs410232 C G 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=18.78;MQ=70.96;MQ0=20;OQ=73.98;QD=0.38;SB=262.79;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.475C>G;refseq.codonCoord=159;refseq.end=195063867;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_002113;refseq.name2=CFHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L159V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=45;refseq.start=195063867;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:166,24:165:-68.06,-57.38,-744.29:99 chr1 195067665 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=37.49;MQ0=132;OQ=5007.44;QD=11.67;RankSumP=0.0821169;SB=-1292.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.906G>T;refseq.codonCoord=302;refseq.end=195067665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_002113;refseq.name2=CFHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R302R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=116;refseq.start=195067665;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 195067701 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=14.80;MQ=33.96;MQ0=263;OQ=1765.27;QD=4.41;RankSumP=0.142670;SB=-644.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.942A>T;refseq.codonCoord=314;refseq.end=195067701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_002113;refseq.name2=CFHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R314R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=152;refseq.start=195067701;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr1 195148657 . G C 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.421G>C;refseq.codonCoord=141;refseq.end=195148657;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_006684;refseq.name2=CFHR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A141P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-19;refseq.start=195148657;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/1 chr1 195186771 . C T 290.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=91.69;MQ0=11;OQ=5317.78;QD=15.73;RankSumP=0.0421756;SB=-1073.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.420C>T;refseq.codonCoord=140;refseq.end=195186771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_005666;refseq.name2=CFHR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C140C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-11;refseq.start=195186771;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr1 195276421 . A G 229.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=1395.68;QD=17.02;RankSumP=0.484859;SB=-692.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1806T>C;refseq.codonCoord=602;refseq.end=195276421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_001994;refseq.name2=F13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N602N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=68;refseq.start=195276421;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr1 195296824 . T C 245.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1908.03;QD=34.69;RankSumP=1.00000;SB=-135.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.456A>G;refseq.codonCoord=152;refseq.end=195296824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_001994;refseq.name2=F13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T152T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=195296824;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 195297644 . C T 307.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.89;MQ0=0;OQ=7223.21;QD=42.24;RankSumP=1.00000;SB=-2095.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.344G>A;refseq.codonCoord=115;refseq.end=195297644;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_001994;refseq.name2=F13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R115H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=79;refseq.start=195297644;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 195337065 . G T 137.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=1594.97;QD=12.56;RankSumP=0.268629;SB=-739.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7939C>A;refseq.codonCoord=2647;refseq.end=195337065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8196;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2647I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-882;refseq.start=195337065;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 195337320 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.99;MQ0=0;OQ=2513.65;QD=19.34;RankSumP=0.227422;SB=-961.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7684A>G;refseq.codonCoord=2562;refseq.end=195337320;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7941;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2562G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1137;refseq.start=195337320;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 195337330 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.99;MQ0=0;OQ=2867.80;QD=19.38;RankSumP=0.483934;SB=-1000.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7674C>T;refseq.codonCoord=2558;refseq.end=195337330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7931;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2558I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-1147;refseq.start=195337330;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 195337399 . C T 305.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.64;MQ0=0;OQ=5255.94;QD=17.06;RankSumP=0.432455;SB=-1866.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7605G>A;refseq.codonCoord=2535;refseq.end=195337399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7862;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2535V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1216;refseq.start=195337399;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 195337438 . T C 292.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=98.76;MQ0=0;OQ=11641.51;QD=42.49;RankSumP=1.00000;SB=-5337.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.7566A>G;refseq.codonCoord=2522;refseq.end=195337438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7823;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2522L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-1255;refseq.start=195337438;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 195337524 . A G 279.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.96;MQ0=0;OQ=15348.44;QD=42.87;RankSumP=1.00000;SB=-5973.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7480T>C;refseq.codonCoord=2494;refseq.end=195337524;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7737;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2494H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1341;refseq.start=195337524;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 195339043 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=29.40;MQ=98.91;MQ0=0;OQ=10971.50;QD=20.36;RankSumP=0.430240;SB=-1913.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5961A>G;refseq.codonCoord=1987;refseq.end=195339043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6218;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1987Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1896;refseq.start=195339043;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 195340555 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=570.22;QD=11.88;RankSumP=0.494732;SB=-279.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4449A>G;refseq.codonCoord=1483;refseq.end=195340555;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4706;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1483K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=384;refseq.start=195340555;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 195358160 . A T 393.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.71;MQ0=0;OQ=9471.47;QD=38.82;RankSumP=1.00000;SB=-3471.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3579T>A;refseq.codonCoord=1193;refseq.end=195358160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3836;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1193S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-20;refseq.start=195358160;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 195379156 . G A 260.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=98.73;MQ0=0;OQ=9496.24;QD=43.16;RankSumP=1.00000;SB=-4098.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.849C>T;refseq.codonCoord=283;refseq.end=195379156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_018136;refseq.name2=ASPM;refseq.positionType=CDS;refseq.proteinCoordStr=p.S283S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=408;refseq.start=195379156;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 195395319 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2523A>C;refseq.codonCoord=841;refseq.end=195395319;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2592;refseq.name=NM_194314;refseq.name2=ZBTB41;refseq.positionType=CDS;refseq.proteinCoordStr=p.P841P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=449;refseq.start=195395319;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 195395349 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=32.37;MQ=98.65;MQ0=0;OQ=4087.96;QD=13.86;RankSumP=0.000821283;SB=-468.37;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2493C>T;refseq.codonCoord=831;refseq.end=195395349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2562;refseq.name=NM_194314;refseq.name2=ZBTB41;refseq.positionType=CDS;refseq.proteinCoordStr=p.L831L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=419;refseq.start=195395349;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/0 chr1 195592632 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1037A>C;refseq.codonCoord=346;refseq.end=195592632;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_201253;refseq.name2=CRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N346T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=49;refseq.start=195592632;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 195656991 . A G 352.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.75;MQ0=0;OQ=8757.98;QD=39.63;RankSumP=1.00000;SB=-4262.68;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1410A>G;refseq.codonCoord=470;refseq.end=195656991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_201253;refseq.name2=CRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L470L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=239;refseq.start=195656991;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 196148314 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr1;refseq.codingCoordStr=c.28+2;refseq.end=196148314;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001014434;refseq.name2=LHX9;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=196148314;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr1 196163351 . T C 114.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1398.66;QD=22.93;RankSumP=0.452939;SB=-524.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.714T>C;refseq.codingCoordStr_2=c.741T>C;refseq.codonCoord_1=238;refseq.codonCoord_2=247;refseq.end_1=196163351;refseq.end_2=196163351;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=741;refseq.mrnaCoord_2=1178;refseq.name2_1=LHX9;refseq.name2_2=LHX9;refseq.name_1=NM_001014434;refseq.name_2=NM_020204;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N238N;refseq.proteinCoordStr_2=p.N247N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=196163351;refseq.start_2=196163351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr1 196776399 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5C>A;refseq.codingCoordStr_2=c.5C>A;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.end_1=196776399;refseq.end_2=196776399;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=111;refseq.mrnaCoord_2=111;refseq.name2_1=ATP6V1G3;refseq.name2_2=ATP6V1G3;refseq.name_1=NM_133262;refseq.name_2=NM_133326;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2K;refseq.proteinCoordStr_2=p.T2K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=196776399;refseq.start_2=196776399;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr1 198409904 . C T 191.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=2017.16;QD=13.45;RankSumP=0.359819;SB=-853.40;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1431C>T;refseq.codingCoordStr_2=c.1569C>T;refseq.codonCoord_1=477;refseq.codonCoord_2=523;refseq.end_1=198409904;refseq.end_2=198409904;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1637;refseq.mrnaCoord_2=1775;refseq.name2_1=NR5A2;refseq.name2_2=NR5A2;refseq.name_1=NM_003822;refseq.name_2=NM_205860;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N477N;refseq.proteinCoordStr_2=p.N523N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=191;refseq.spliceDist_2=191;refseq.start_1=198409904;refseq.start_2=198409904;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 198643318 . C T 186.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.57;MQ0=0;OQ=13691.71;QD=41.12;RankSumP=1.00000;SB=-6432.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2139G>A;refseq.codonCoord=713;refseq.end=198643318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2246;refseq.name=NM_012482;refseq.name2=ZNF281;refseq.positionType=CDS;refseq.proteinCoordStr=p.T713T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1276;refseq.start=198643318;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 198789189 . G C 165.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.92;MQ0=0;OQ=831.78;QD=13.86;RankSumP=0.717665;SB=-374.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4897C>G;refseq.codonCoord=1633;refseq.end=198789189;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5336;refseq.name=NM_014875;refseq.name2=KIF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1633A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=330;refseq.start=198789189;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 198800871 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=2048.34;QD=12.41;RankSumP=0.481299;SB=-995.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4020G>A;refseq.codonCoord=1340;refseq.end=198800871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4459;refseq.name=NM_014875;refseq.name2=KIF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1340E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-52;refseq.start=198800871;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr1 198824986 . T C 232.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=1567.13;QD=16.50;RankSumP=0.468773;SB=-800.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3096A>G;refseq.codonCoord=1032;refseq.end=198824986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3535;refseq.name=NM_014875;refseq.name2=KIF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1032E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=198824986;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 198884861 . T C 347.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.67;MQ0=0;OQ=10714.80;QD=39.11;RankSumP=1.00000;SB=-3554.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1431A>G;refseq.codonCoord=477;refseq.end=198884861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1674;refseq.name=NM_001031725;refseq.name2=DDX59;refseq.positionType=CDS;refseq.proteinCoordStr=p.S477S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-37;refseq.start=198884861;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr1 199108964 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=42;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=96.84;MQ0=0;OQ=481.16;QD=11.46;RankSumP=0.591706;SB=-130.64;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.176T>C;refseq.codonCoord=59;refseq.end=199108964;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_005298;refseq.name2=GPR25;refseq.positionType=CDS;refseq.proteinCoordStr=p.F59S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=176;refseq.start=199108964;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 199134115 . C G 331.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=98.85;MQ0=0;OQ=4596.46;QD=21.38;RankSumP=0.0777179;SB=-1859.28;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.-37C>G;refseq.codingCoordStr_2=c.219C>G;refseq.codonCoord_2=73;refseq.end_1=199134115;refseq.end_2=199134115;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=275;refseq.mrnaCoord_2=249;refseq.name2_1=C1orf106;refseq.name2_2=C1orf106;refseq.name_1=NM_001142569;refseq.name_2=NM_018265;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P73P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=199134115;refseq.start_2=199134115;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr1 199147334 . G C 88 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.16092e-09;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1090G>C;refseq.codingCoordStr_2=c.1345G>C;refseq.codonCoord_1=364;refseq.codonCoord_2=449;refseq.end_1=199147334;refseq.end_2=199147334;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1401;refseq.mrnaCoord_2=1375;refseq.name2_1=C1orf106;refseq.name2_2=C1orf106;refseq.name_1=NM_001142569;refseq.name_2=NM_018265;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A364P;refseq.proteinCoordStr_2=p.A449P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=131;refseq.spliceDist_2=131;refseq.start_1=199147334;refseq.start_2=199147334;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 199224073 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3382A>C;refseq.codonCoord=1128;refseq.end=199224073;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3699;refseq.name=NM_017596;refseq.name2=KIF21B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1128P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-27;refseq.start=199224073;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 199235188 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1797T>G;refseq.codonCoord=599;refseq.end=199235188;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2114;refseq.name=NM_017596;refseq.name2=KIF21B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C599W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=30;refseq.start=199235188;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 199239408 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1141A>C;refseq.codonCoord=381;refseq.end=199239408;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1458;refseq.name=NM_017596;refseq.name2=KIF21B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T381P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-72;refseq.start=199239408;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 199284428 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4346T>G;refseq.codonCoord=1449;refseq.end=199284428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4573;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1449G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=199284428;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 199305310 . A G 128.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=582.07;QD=20.79;RankSumP=0.290808;SB=-90.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2403T>C;refseq.codonCoord=801;refseq.end=199305310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2630;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.F801F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=43;refseq.start=199305310;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 199313685 . G A 125.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=4.74;MQ=98.95;MQ0=0;OQ=4736.79;QD=24.42;RankSumP=0.00741987;SB=-1542.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1564C>T;refseq.codonCoord=522;refseq.end=199313685;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1791;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.L522L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-56;refseq.start=199313685;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 1/0 chr1 199313698 . A G 363.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=4.52;MQ=98.95;MQ0=0;OQ=7420.74;QD=36.02;RankSumP=1.00000;SB=-2539.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1551T>C;refseq.codonCoord=517;refseq.end=199313698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1778;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.G517G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-69;refseq.start=199313698;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 199313734 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=24.44;MQ=98.63;MQ0=0;OQ=5815.70;QD=18.40;RankSumP=0.266019;SB=-1255.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1515T>C;refseq.codonCoord=505;refseq.end=199313734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1742;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.C505C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-105;refseq.start=199313734;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 199318933 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=27.80;MQ=97.23;MQ0=0;OQ=2628.28;QD=11.09;RankSumP=0.171754;SB=-749.23;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1373T>A;refseq.codonCoord=458;refseq.end=199318933;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1600;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.L458H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-21;refseq.start=199318933;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr1 199318935 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=32.40;MQ=97.16;MQ0=0;OQ=2943.58;QD=11.97;RankSumP=0.386159;SB=-590.50;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1371T>G;refseq.codonCoord=457;refseq.end=199318935;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1598;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.P457P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-23;refseq.start=199318935;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr1 199318993 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1313T>G;refseq.codonCoord=438;refseq.end=199318993;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.V438G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=81;refseq.start=199318993;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 199327488 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=548.77;QD=14.07;RankSumP=0.602082;SB=-190.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.597C>T;refseq.codonCoord=199;refseq.end=199327488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_000069;refseq.name2=CACNA1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.I199I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=56;refseq.start=199327488;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 199371489 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.477T>G;refseq.codonCoord=159;refseq.end=199371489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_016456;refseq.name2=TMEM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=78;refseq.start=199371489;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 199379604 . A G 353.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=8.03;MQ=98.84;MQ0=0;OQ=4433.57;QD=17.52;RankSumP=0.0774041;SB=-1741.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.366T>C;refseq.codonCoord=122;refseq.end=199379604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_016456;refseq.name2=TMEM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y122Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-34;refseq.start=199379604;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr1 199449986 . C T 200.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.87;MQ0=0;OQ=1141.83;QD=15.22;RankSumP=0.388609;SB=-346.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8787C>T;refseq.codonCoord=2929;refseq.end=199449986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8917;refseq.name=NM_001164586;refseq.name2=IGFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2929A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=59;refseq.start=199449986;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr1 199450025 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=6.62;MQ=98.76;MQ0=0;OQ=1479.15;QD=10.96;RankSumP=0.473283;SB=-551.13;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8826T>C;refseq.codonCoord=2942;refseq.end=199450025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8956;refseq.name=NM_001164586;refseq.name2=IGFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2942P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-28;refseq.start=199450025;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr1 199450898 . C T 280.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.69;MQ0=0;OQ=2968.62;QD=17.16;RankSumP=0.322092;SB=-658.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8988C>T;refseq.codonCoord=2996;refseq.end=199450898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9118;refseq.name=NM_001164586;refseq.name2=IGFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2996T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=199450898;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 199454387 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=14.77;MQ=98.40;MQ0=0;OQ=3964.05;QD=29.15;RankSumP=1.00000;SB=-1858.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.9876T>C;refseq.codonCoord=3292;refseq.end=199454387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10006;refseq.name=NM_001164586;refseq.name2=IGFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3292A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-23;refseq.start=199454387;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 199457355 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=97.07;MQ0=0;OQ=523.11;QD=8.58;RankSumP=0.554700;SB=-268.19;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.10059G>A;refseq.codonCoord=3353;refseq.end=199457355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10189;refseq.name=NM_001164586;refseq.name2=IGFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3353V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-143;refseq.start=199457355;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 199519489 . C T 261.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=98.77;MQ0=0;OQ=2102.93;QD=15.13;RankSumP=0.129091;SB=-886.54;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.36C>T;refseq.codingCoordStr_2=c.36C>T;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=199519489;refseq.end_2=199519489;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=287;refseq.mrnaCoord_2=287;refseq.name2_1=PKP1;refseq.name2_2=PKP1;refseq.name_1=NM_000299;refseq.name_2=NM_001005337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y12Y;refseq.proteinCoordStr_2=p.Y12Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-167;refseq.spliceDist_2=-167;refseq.start_1=199519489;refseq.start_2=199519489;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr1 199549196 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=99.00;MQ0=0;OQ=609.14;QD=14.86;RankSumP=0.393237;SB=-111.99;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.586A>G;refseq.codingCoordStr_2=c.586A>G;refseq.codonCoord_1=196;refseq.codonCoord_2=196;refseq.end_1=199549196;refseq.end_2=199549196;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=837;refseq.mrnaCoord_2=837;refseq.name2_1=PKP1;refseq.name2_2=PKP1;refseq.name_1=NM_000299;refseq.name_2=NM_001005337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I196V;refseq.proteinCoordStr_2=p.I196V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-116;refseq.spliceDist_2=-116;refseq.start_1=199549196;refseq.start_2=199549196;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr1 199552382 . A G 401.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.71;MQ0=0;OQ=5454.08;QD=39.52;RankSumP=1.00000;SB=-2404.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.780A>G;refseq.codingCoordStr_2=c.780A>G;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=199552382;refseq.end_2=199552382;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1031;refseq.mrnaCoord_2=1031;refseq.name2_1=PKP1;refseq.name2_2=PKP1;refseq.name_1=NM_000299;refseq.name_2=NM_001005337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K260K;refseq.proteinCoordStr_2=p.K260K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=199552382;refseq.start_2=199552382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 199597691 . A G 223.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=10.69;MQ=98.79;MQ0=0;OQ=8101.69;QD=16.70;RankSumP=0.0129418;SB=-2115.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.683T>C;refseq.codingCoordStr_2=c.662T>C;refseq.codingCoordStr_3=c.653T>C;refseq.codingCoordStr_4=c.644T>C;refseq.codonCoord_1=228;refseq.codonCoord_2=221;refseq.codonCoord_3=218;refseq.codonCoord_4=215;refseq.end_1=199597691;refseq.end_2=199597691;refseq.end_3=199597691;refseq.end_4=199597691;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=731;refseq.mrnaCoord_3=722;refseq.mrnaCoord_4=713;refseq.name2_1=TNNT2;refseq.name2_2=TNNT2;refseq.name2_3=TNNT2;refseq.name2_4=TNNT2;refseq.name_1=NM_000364;refseq.name_2=NM_001001430;refseq.name_3=NM_001001431;refseq.name_4=NM_001001432;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I228T;refseq.proteinCoordStr_2=p.I221T;refseq.proteinCoordStr_3=p.I218T;refseq.proteinCoordStr_4=p.I215T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=199597691;refseq.start_2=199597691;refseq.start_3=199597691;refseq.start_4=199597691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 0/1 chr1 199601005 . G A 216.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=7.92;MQ=98.00;MQ0=0;OQ=5156.72;QD=40.29;RankSumP=1.00000;SB=-1973.01;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.348C>T;refseq.codingCoordStr_2=c.318C>T;refseq.codingCoordStr_3=c.318C>T;refseq.codingCoordStr_4=c.303C>T;refseq.codonCoord_1=116;refseq.codonCoord_2=106;refseq.codonCoord_3=106;refseq.codonCoord_4=101;refseq.end_1=199601005;refseq.end_2=199601005;refseq.end_3=199601005;refseq.end_4=199601005;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=417;refseq.mrnaCoord_2=387;refseq.mrnaCoord_3=387;refseq.mrnaCoord_4=372;refseq.name2_1=TNNT2;refseq.name2_2=TNNT2;refseq.name2_3=TNNT2;refseq.name2_4=TNNT2;refseq.name_1=NM_000364;refseq.name_2=NM_001001430;refseq.name_3=NM_001001431;refseq.name_4=NM_001001432;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I116I;refseq.proteinCoordStr_2=p.I106I;refseq.proteinCoordStr_3=p.I106I;refseq.proteinCoordStr_4=p.I101I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.start_1=199601005;refseq.start_2=199601005;refseq.start_3=199601005;refseq.start_4=199601005;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 1/1 chr1 199601418 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1628.97;QD=12.53;RankSumP=0.230000;SB=-608.48;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.237G>A;refseq.codingCoordStr_2=c.207G>A;refseq.codingCoordStr_3=c.207G>A;refseq.codingCoordStr_4=c.192G>A;refseq.codonCoord_1=79;refseq.codonCoord_2=69;refseq.codonCoord_3=69;refseq.codonCoord_4=64;refseq.end_1=199601418;refseq.end_2=199601418;refseq.end_3=199601418;refseq.end_4=199601418;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=306;refseq.mrnaCoord_2=276;refseq.mrnaCoord_3=276;refseq.mrnaCoord_4=261;refseq.name2_1=TNNT2;refseq.name2_2=TNNT2;refseq.name2_3=TNNT2;refseq.name2_4=TNNT2;refseq.name_1=NM_000364;refseq.name_2=NM_001001430;refseq.name_3=NM_001001431;refseq.name_4=NM_001001432;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S79S;refseq.proteinCoordStr_2=p.S69S;refseq.proteinCoordStr_3=p.S69S;refseq.proteinCoordStr_4=p.S64S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.start_1=199601418;refseq.start_2=199601418;refseq.start_3=199601418;refseq.start_4=199601418;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 0/1 chr1 199622145 . T C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=98.93;MQ0=0;OQ=75.78;QD=5.41;RankSumP=0.619048;SB=-6.99;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.967A>G;refseq.codonCoord=323;refseq.end=199622145;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_005558;refseq.name2=LAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K323E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-60;refseq.start=199622145;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 199622292 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=96.57;MQ0=0;OQ=493.15;QD=12.64;RankSumP=0.342152;SB=-128.62;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.820A>G;refseq.codonCoord=274;refseq.end=199622292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1055;refseq.name=NM_005558;refseq.name2=LAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T274A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-207;refseq.start=199622292;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr1 199622566 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.85;MQ0=0;OQ=703.64;QD=12.57;RankSumP=0.741357;SB=-318.80;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.546G>A;refseq.codonCoord=182;refseq.end=199622566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_005558;refseq.name2=LAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K182K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=364;refseq.start=199622566;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr1 200018109 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.673A>C;refseq.codingCoordStr_2=c.1846A>C;refseq.codonCoord_1=225;refseq.codonCoord_2=616;refseq.end_1=200018109;refseq.end_2=200018109;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=2193;refseq.name2_1=NAV1;refseq.name2_2=NAV1;refseq.name_1=NM_001167738;refseq.name_2=NM_020443;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T225P;refseq.proteinCoordStr_2=p.T616P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=183;refseq.spliceDist_2=183;refseq.start_1=200018109;refseq.start_2=200018109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr1 200094246 . G C 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=1;RankSumP=0.0625707;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1270G>C;refseq.codonCoord=424;refseq.end=200094246;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_018085;refseq.name2=IPO9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A424P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=49;refseq.start=200094246;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 0/1 chr1 200127249 . A G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=18.11;MQ=98.37;MQ0=0;OQ=9844.14;QD=36.60;RankSumP=1.00000;SB=-2868.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.477A>G;refseq.codonCoord_2=159;refseq.end_1=200127249;refseq.end_2=200127249;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=517;refseq.mrnaCoord_2=795;refseq.name2_1=SHISA4;refseq.name2_2=SHISA4;refseq.name_1=NR_030775;refseq.name_2=NM_198149;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I159M;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=200127249;refseq.start_2=200127249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr1 200201201 . G A 187.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.65;MQ0=0;OQ=5043.87;QD=15.66;RankSumP=0.185885;SB=-957.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.337G>A;refseq.codonCoord=113;refseq.end=200201201;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_006335;refseq.name2=TIMM17A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V113I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=18;refseq.start=200201201;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 200218692 . C G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=2;HRun=2;RankSumP=0.750000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.275C>G;refseq.codonCoord=92;refseq.end=200218692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A92G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-173;refseq.start=200218692;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 200218697 . C G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=2;HRun=2;RankSumP=0.750000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.280C>G;refseq.codonCoord=94;refseq.end=200218697;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=309;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R94G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-168;refseq.start=200218697;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 200218706 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=2;HRun=2;RankSumP=0.750000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.289C>G;refseq.codonCoord=97;refseq.end=200218706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R97G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-159;refseq.start=200218706;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 200233071 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=6.16138e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.856T>G;refseq.codonCoord=286;refseq.end=200233071;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y286D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=200233071;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr1 200235705 . G A 237.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.77;MQ0=0;OQ=7859.35;QD=38.72;RankSumP=1.00000;SB=-3783.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1143G>A;refseq.codonCoord=381;refseq.end=200235705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q381Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=53;refseq.start=200235705;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr1 200237185 . T C 271.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.80;MQ0=0;OQ=13310.09;QD=41.46;RankSumP=1.00000;SB=-6412.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1263T>C;refseq.codonCoord=421;refseq.end=200237185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_020216;refseq.name2=RNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V421V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-55;refseq.start=200237185;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 200247841 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=2.28;MQ=98.82;MQ0=0;OQ=1490.08;QD=19.10;RankSumP=0.105945;SB=-689.52;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.297C>G;refseq.codingCoordStr_2=c.297C>G;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=200247841;refseq.end_2=200247841;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=564;refseq.mrnaCoord_2=450;refseq.name2_1=ELF3;refseq.name2_2=ELF3;refseq.name_1=NM_001114309;refseq.name_2=NM_004433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G99G;refseq.proteinCoordStr_2=p.G99G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=200247841;refseq.start_2=200247841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr1 200248485 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=70;Dels=0.00;HRun=4;HaplotypeScore=2.22;MQ=97.97;MQ0=0;OQ=770.38;QD=11.01;RankSumP=0.216128;SB=-118.67;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.573T>C;refseq.codingCoordStr_2=c.573T>C;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.end_1=200248485;refseq.end_2=200248485;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=726;refseq.name2_1=ELF3;refseq.name2_2=ELF3;refseq.name_1=NM_001114309;refseq.name_2=NM_004433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P191P;refseq.proteinCoordStr_2=p.P191P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=200248485;refseq.start_2=200248485;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/0 chr1 200358983 . G A 326.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=99.00;MQ0=0;OQ=3043.46;QD=39.02;RankSumP=1.00000;SB=-535.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.269G>A;refseq.codonCoord=90;refseq.end=200358983;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_004767;refseq.name2=GPR37L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G90D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=332;refseq.start=200358983;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 200359038 . A G 95.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.76;MQ0=0;OQ=7714.12;QD=39.76;RankSumP=1.00000;SB=-1729.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.324A>G;refseq.codonCoord=108;refseq.end=200359038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_004767;refseq.name2=GPR37L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G108G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-307;refseq.start=200359038;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr1 200359203 . T C 397.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=3507.49;QD=37.31;RankSumP=1.00000;SB=-1622.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.489T>C;refseq.codonCoord=163;refseq.end=200359203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_004767;refseq.name2=GPR37L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S163S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-142;refseq.start=200359203;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 200449931 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.44;MQ0=0;OQ=789.78;QD=21.94;RankSumP=0.395005;SB=-392.14;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_3=c.26C>T;refseq.codonCoord_3=9;refseq.end_1=200461163;refseq.end_2=200461163;refseq.end_3=200449931;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=26;refseq.name2_1=LGR6;refseq.name2_2=LGR6;refseq.name2_3=LGR6;refseq.name_1=NM_001017403;refseq.name_2=NM_021636;refseq.name_3=NM_001017404;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S9L;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCA;refseq.spliceDist_3=26;refseq.start_1=200429963;refseq.start_2=200439637;refseq.start_3=200449931;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTA;set=Intersection GT 0/1 chr1 200543117 . C T 133.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.81;MQ0=0;OQ=20482.73;QD=41.21;RankSumP=1.00000;SB=-9944.50;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1245C>T;refseq.codingCoordStr_2=c.828C>T;refseq.codingCoordStr_3=c.1089C>T;refseq.codonCoord_1=415;refseq.codonCoord_2=276;refseq.codonCoord_3=363;refseq.end_1=200543117;refseq.end_2=200543117;refseq.end_3=200543117;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=828;refseq.mrnaCoord_3=1132;refseq.name2_1=LGR6;refseq.name2_2=LGR6;refseq.name2_3=LGR6;refseq.name_1=NM_001017403;refseq.name_2=NM_001017404;refseq.name_3=NM_021636;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P415P;refseq.proteinCoordStr_2=p.P276P;refseq.proteinCoordStr_3=p.P363P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=200543117;refseq.start_2=200543117;refseq.start_3=200543117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr1 200553829 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=98.39;MQ0=0;OQ=2106.57;QD=35.70;RankSumP=1.00000;SB=-298.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1775T>C;refseq.codingCoordStr_2=c.1358T>C;refseq.codingCoordStr_3=c.1619T>C;refseq.codonCoord_1=592;refseq.codonCoord_2=453;refseq.codonCoord_3=540;refseq.end_1=200553829;refseq.end_2=200553829;refseq.end_3=200553829;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1775;refseq.mrnaCoord_2=1358;refseq.mrnaCoord_3=1662;refseq.name2_1=LGR6;refseq.name2_2=LGR6;refseq.name2_3=LGR6;refseq.name_1=NM_001017403;refseq.name_2=NM_001017404;refseq.name_3=NM_021636;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V592A;refseq.proteinCoordStr_2=p.V453A;refseq.proteinCoordStr_3=p.V540A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=127;refseq.spliceDist_2=127;refseq.spliceDist_3=127;refseq.start_1=200553829;refseq.start_2=200553829;refseq.start_3=200553829;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=soap-filterIngatk GT 1/1 chr1 200554160 . G A 116.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=96.94;MQ0=0;OQ=467.80;QD=21.26;RankSumP=1.00000;SB=-166.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2106G>A;refseq.codingCoordStr_2=c.1689G>A;refseq.codingCoordStr_3=c.1950G>A;refseq.codonCoord_1=702;refseq.codonCoord_2=563;refseq.codonCoord_3=650;refseq.end_1=200554160;refseq.end_2=200554160;refseq.end_3=200554160;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2106;refseq.mrnaCoord_2=1689;refseq.mrnaCoord_3=1993;refseq.name2_1=LGR6;refseq.name2_2=LGR6;refseq.name2_3=LGR6;refseq.name_1=NM_001017403;refseq.name_2=NM_001017404;refseq.name_3=NM_021636;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A702A;refseq.proteinCoordStr_2=p.A563A;refseq.proteinCoordStr_3=p.A650A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=458;refseq.spliceDist_2=458;refseq.spliceDist_3=458;refseq.start_1=200554160;refseq.start_2=200554160;refseq.start_3=200554160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr1 200554436 . T C 426.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.95;MQ0=0;OQ=4040.47;QD=36.08;RankSumP=1.00000;SB=-2018.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2382T>C;refseq.codingCoordStr_2=c.1965T>C;refseq.codingCoordStr_3=c.2226T>C;refseq.codonCoord_1=794;refseq.codonCoord_2=655;refseq.codonCoord_3=742;refseq.end_1=200554436;refseq.end_2=200554436;refseq.end_3=200554436;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2382;refseq.mrnaCoord_2=1965;refseq.mrnaCoord_3=2269;refseq.name2_1=LGR6;refseq.name2_2=LGR6;refseq.name2_3=LGR6;refseq.name_1=NM_001017403;refseq.name_2=NM_001017404;refseq.name_3=NM_021636;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F794F;refseq.proteinCoordStr_2=p.F655F;refseq.proteinCoordStr_3=p.F742F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=734;refseq.spliceDist_2=734;refseq.spliceDist_3=734;refseq.start_1=200554436;refseq.start_2=200554436;refseq.start_3=200554436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr1 200841407 . G A 238.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=90.44;MQ0=0;OQ=8217.83;QD=39.70;RankSumP=1.00000;SB=-3800.59;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.117C>T;refseq.codingCoordStr_2=c.117C>T;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=200841407;refseq.end_2=200841407;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=310;refseq.mrnaCoord_2=300;refseq.name2_1=SYT2;refseq.name2_2=SYT2;refseq.name_1=NM_001136504;refseq.name_2=NM_177402;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S39S;refseq.proteinCoordStr_2=p.S39S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=200841407;refseq.start_2=200841407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr1 200972078 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=12.09;MQ=98.49;MQ0=0;OQ=6091.61;QD=22.82;RankSumP=0.137342;SB=-2376.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3150C>G;refseq.codonCoord=1050;refseq.end=200972078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3266;refseq.name=NM_006618;refseq.name2=KDM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1050P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=66;refseq.start=200972078;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr1 200981907 . G A 337.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=8.12;MQ=98.05;MQ0=0;OQ=5158.47;QD=17.02;RankSumP=0.282285;SB=-1485.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2184C>T;refseq.codonCoord=728;refseq.end=200981907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2300;refseq.name=NM_006618;refseq.name2=KDM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y728Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-15;refseq.start=200981907;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr1 200984825 . G A 349.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.87;MQ0=0;OQ=5520.83;QD=19.44;RankSumP=0.160558;SB=-1426.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1887C>T;refseq.codonCoord=629;refseq.end=200984825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_006618;refseq.name2=KDM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H629H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=66;refseq.start=200984825;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 200991182 . T C 35.18 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=127;Dels=0.00;HRun=2;HaplotypeScore=19.09;MQ=98.88;MQ0=0;QD=0.28;RankSumP=0.00000;SB=107.39;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1378A>G;refseq.codonCoord=460;refseq.end=200991182;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_006618;refseq.name2=KDM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N460D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=22;refseq.start=200991182;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr1 200999861 . C T 315.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=98.50;MQ0=0;OQ=2998.58;QD=16.85;RankSumP=0.473793;SB=-1029.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.747G>A;refseq.codonCoord=249;refseq.end=200999861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_006618;refseq.name2=KDM5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T249T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=36;refseq.start=200999861;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 201116889 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.212T>G;refseq.codonCoord=71;refseq.end=201116889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_002871;refseq.name2=RABIF;refseq.positionType=CDS;refseq.proteinCoordStr=p.V71G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=86;refseq.start=201116889;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 201186777 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.45T>C;refseq.codingCoordStr_2=c.45T>C;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=201186777;refseq.end_2=201186777;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=304;refseq.mrnaCoord_2=312;refseq.name2_1=ADIPOR1;refseq.name2_2=ADIPOR1;refseq.name_1=NM_001127687;refseq.name_2=NM_015999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A15A;refseq.proteinCoordStr_2=p.A15A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.start_1=201186777;refseq.start_2=201186777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr1 201411123 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.295A>G;refseq.codonCoord=99;refseq.end=201411123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_004997;refseq.name2=MYBPH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R99G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-46;refseq.start=201411123;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 201411332 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.46149e-06;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.175A>C;refseq.codonCoord=59;refseq.end=201411332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_004997;refseq.name2=MYBPH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T59P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-31;refseq.start=201411332;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 201411335 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.26667e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.172T>C;refseq.codonCoord=58;refseq.end=201411335;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_004997;refseq.name2=MYBPH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S58P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-34;refseq.start=201411335;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 201415256 . A G 226.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1440.92;QD=36.95;RankSumP=1.00000;SB=-356.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1092T>C;refseq.codonCoord=364;refseq.end=201415256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1263;refseq.name=NM_001276;refseq.name2=CHI3L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C364C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=81;refseq.start=201415256;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr1 201419424 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=2;HaplotypeScore=8.74;MQ=98.85;MQ0=0;OQ=7324.16;QD=40.24;RankSumP=1.00000;SB=-2819.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.433A>G;refseq.codonCoord=145;refseq.end=201419424;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=604;refseq.name=NM_001276;refseq.name2=CHI3L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R145G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-33;refseq.start=201419424;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 201583785 . C T 241.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=765.37;QD=40.28;RankSumP=1.00000;SB=-273.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.237G>A;refseq.codonCoord=79;refseq.end=201583785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_002023;refseq.name2=FMOD;refseq.positionType=CDS;refseq.proteinCoordStr=p.E79E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=244;refseq.start=201583785;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 201719032 . G A 162.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.51;MQ0=0;OQ=1255.92;QD=19.32;RankSumP=0.598317;SB=-642.10;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.97G>A;refseq.codingCoordStr_2=c.97G>A;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=201719032;refseq.end_2=201719032;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=287;refseq.name2_1=PRELP;refseq.name2_2=PRELP;refseq.name_1=NM_002725;refseq.name_2=NM_201348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G33R;refseq.proteinCoordStr_2=p.G33R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=201719032;refseq.start_2=201719032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr1 201719343 . C T 169.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.87;MQ0=0;OQ=2637.40;QD=14.99;RankSumP=0.0324030;SB=-1054.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.408C>T;refseq.codingCoordStr_2=c.408C>T;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=201719343;refseq.end_2=201719343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=608;refseq.mrnaCoord_2=598;refseq.name2_1=PRELP;refseq.name2_2=PRELP;refseq.name_1=NM_002725;refseq.name_2=NM_201348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N136N;refseq.proteinCoordStr_2=p.N136N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=424;refseq.spliceDist_2=424;refseq.start_1=201719343;refseq.start_2=201719343;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 201738742 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=218;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.74;MQ0=0;OQ=4926.95;QD=22.60;RankSumP=0.205395;SB=-1874.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.810G>A;refseq.codonCoord=270;refseq.end=201738742;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_014359;refseq.name2=OPTC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L270L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-19;refseq.start=201738742;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr1 201919067 . A G 360.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.65;MQ0=0;OQ=4865.74;QD=17.95;RankSumP=0.163054;SB=-1700.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.111A>G;refseq.codingCoordStr_2=c.111A>G;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=201919067;refseq.end_2=201919067;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=995;refseq.mrnaCoord_2=995;refseq.name2_1=ATP2B4;refseq.name2_2=ATP2B4;refseq.name_1=NM_001001396;refseq.name_2=NM_001684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S37S;refseq.proteinCoordStr_2=p.S37S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=201919067;refseq.start_2=201919067;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr1 201934032 . T C 191.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=501;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=98.82;MQ0=0;OQ=10372.84;QD=20.70;RankSumP=0.463760;SB=-4061.73;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.318T>C;refseq.codingCoordStr_2=c.318T>C;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.end_1=201934032;refseq.end_2=201934032;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1202;refseq.mrnaCoord_2=1202;refseq.name2_1=ATP2B4;refseq.name2_2=ATP2B4;refseq.name_1=NM_001001396;refseq.name_2=NM_001684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L106L;refseq.proteinCoordStr_2=p.L106L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=201934032;refseq.start_2=201934032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr1 201939433 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.968T>C;refseq.codingCoordStr_2=c.968T>C;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=201939433;refseq.end_2=201939433;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1852;refseq.mrnaCoord_2=1852;refseq.name2_1=ATP2B4;refseq.name2_2=ATP2B4;refseq.name_1=NM_001001396;refseq.name_2=NM_001684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I323T;refseq.proteinCoordStr_2=p.I323T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=201939433;refseq.start_2=201939433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr1 201959698 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3091T>G;refseq.codingCoordStr_2=c.3091T>G;refseq.codonCoord_1=1031;refseq.codonCoord_2=1031;refseq.end_1=201959698;refseq.end_2=201959698;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3975;refseq.mrnaCoord_2=3975;refseq.name2_1=ATP2B4;refseq.name2_2=ATP2B4;refseq.name_1=NM_001001396;refseq.name_2=NM_001684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W1031G;refseq.proteinCoordStr_2=p.W1031G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=201959698;refseq.start_2=201959698;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 202054323 . T C 274.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.29;MQ0=0;OQ=12008.00;QD=39.37;RankSumP=1.00000;SB=-4515.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=202054323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_014827;refseq.name2=ZC3H11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G19G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=202054323;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 202397809 . T G 275.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=98.80;MQ0=0;OQ=2528.35;QD=37.18;RankSumP=1.00000;SB=-874.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.204A>C;refseq.codonCoord=68;refseq.end=202397809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_000537;refseq.name2=REN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T68T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=202397809;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr1 202426410 . G C 89.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=152.33;QD=19.04;RankSumP=0.598214;SB=-85.81;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.242C>G;refseq.codonCoord=81;refseq.end=202426410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_002256;refseq.name2=KISS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=139;refseq.start=202426410;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr1 202428570 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=98.08;MQ0=0;OQ=497.68;QD=7.66;RankSumP=0.0735621;SB=-175.73;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.58G>A;refseq.codonCoord=20;refseq.end=202428570;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_002256;refseq.name2=KISS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E20K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-46;refseq.start=202428570;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr1 202438683 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1106.66;QD=22.58;RankSumP=0.708725;SB=-378.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.81C>G;refseq.codonCoord=27;refseq.end=202438683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_198447;refseq.name2=GOLT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L27L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-37;refseq.start=202438683;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 202438719 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.58;MQ0=0;OQ=548.10;QD=13.37;RankSumP=0.569119;SB=-147.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=202438719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_198447;refseq.name2=GOLT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T15T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=20;refseq.start=202438719;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 202464832 . A G 317.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.39;MQ0=0;OQ=5211.72;QD=35.45;RankSumP=1.00000;SB=-2216.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2607T>C;refseq.codonCoord=869;refseq.end=202464832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2924;refseq.name=NM_014935;refseq.name2=PLEKHA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H869H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=24;refseq.start=202464832;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 202466237 . C T 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=495.69;QD=29.16;RankSumP=1.00000;SB=-141.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2510G>A;refseq.codonCoord=837;refseq.end=202466237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2827;refseq.name=NM_014935;refseq.name2=PLEKHA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R837K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-74;refseq.start=202466237;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 202484957 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=204;Dels=0.00;HRun=2;HaplotypeScore=25.89;MQ=97.95;MQ0=0;OQ=60.86;QD=0.30;RankSumP=0.00000;SB=351.11;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1652T>G;refseq.codonCoord=551;refseq.end=202484957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1969;refseq.name=NM_014935;refseq.name2=PLEKHA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V551G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-23;refseq.start=202484957;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 202504039 . C T 442.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.19;MQ0=0;OQ=4818.95;QD=40.16;RankSumP=1.00000;SB=-1369.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.127G>A;refseq.codonCoord=43;refseq.end=202504039;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_014935;refseq.name2=PLEKHA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V43I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=25;refseq.start=202504039;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 202646240 . T C 314.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=2657.63;QD=35.91;RankSumP=1.00000;SB=-435.55;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.923A>G;refseq.codonCoord=308;refseq.end=202646240;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1328;refseq.name=NM_032833;refseq.name2=PPP1R15B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N308S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-998;refseq.start=202646240;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 202660638 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4870T>G;refseq.codonCoord=1624;refseq.end=202660638;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5349;refseq.name=NM_002646;refseq.name2=PIK3C2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1624V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=154;refseq.start=202660638;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr1 202668127 . C A 21.69 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=164;Dels=0.00;HRun=1;HaplotypeScore=13.02;MQ=98.19;MQ0=0;QD=0.13;RankSumP=0.00000;SB=309.05;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3979G>T;refseq.codonCoord=1327;refseq.end=202668127;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4458;refseq.name=NM_002646;refseq.name2=PIK3C2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1327L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=26;refseq.start=202668127;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr1 202704957 . C T 350.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.77;MQ0=0;OQ=3797.46;QD=42.19;RankSumP=1.00000;SB=-1193.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.597G>A;refseq.codonCoord=199;refseq.end=202704957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1076;refseq.name=NM_002646;refseq.name2=PIK3C2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P199P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-337;refseq.start=202704957;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr1 202705266 . G T 242.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.54;MQ0=0;OQ=7539.11;QD=34.11;RankSumP=1.00000;SB=-3760.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.288C>A;refseq.codonCoord=96;refseq.end=202705266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_002646;refseq.name2=PIK3C2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=372;refseq.start=202705266;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr1 202853670 . G A 257.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=4.33;MQ=98.38;MQ0=0;OQ=2588.05;QD=18.10;RankSumP=0.494200;SB=-1186.15;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2074C>T;refseq.codingCoordStr_2=c.2074C>T;refseq.codonCoord_1=692;refseq.codonCoord_2=692;refseq.end_1=202853670;refseq.end_2=202853670;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2462;refseq.mrnaCoord_2=2450;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P692S;refseq.proteinCoordStr_2=p.P692S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-745;refseq.spliceDist_2=-745;refseq.start_1=202853670;refseq.start_2=202853670;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr1 202853863 . G A 152.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.83;MQ0=0;OQ=501.08;QD=14.32;RankSumP=0.440815;SB=-240.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1881C>T;refseq.codingCoordStr_2=c.1881C>T;refseq.codonCoord_1=627;refseq.codonCoord_2=627;refseq.end_1=202853863;refseq.end_2=202853863;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2269;refseq.mrnaCoord_2=2257;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D627D;refseq.proteinCoordStr_2=p.D627D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-938;refseq.spliceDist_2=-938;refseq.start_1=202853863;refseq.start_2=202853863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr1 202854192 . G C 179.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=98.54;MQ0=0;OQ=1810.26;QD=18.86;RankSumP=0.333467;SB=-598.79;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1552C>G;refseq.codingCoordStr_2=c.1552C>G;refseq.codonCoord_1=518;refseq.codonCoord_2=518;refseq.end_1=202854192;refseq.end_2=202854192;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1940;refseq.mrnaCoord_2=1928;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L518V;refseq.proteinCoordStr_2=p.L518V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-1267;refseq.spliceDist_2=-1267;refseq.start_1=202854192;refseq.start_2=202854192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr1 202854763 . G A 233.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.57;MQ0=0;OQ=1810.87;QD=18.67;RankSumP=0.232877;SB=-444.50;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.981C>T;refseq.codingCoordStr_2=c.981C>T;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=202854763;refseq.end_2=202854763;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1369;refseq.mrnaCoord_2=1357;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H327H;refseq.proteinCoordStr_2=p.H327H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=1207;refseq.spliceDist_2=1207;refseq.start_1=202854763;refseq.start_2=202854763;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr1 202855323 . C G 98 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.000159858;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.421G>C;refseq.codingCoordStr_2=c.421G>C;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.end_1=202855323;refseq.end_2=202855323;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=809;refseq.mrnaCoord_2=797;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A141P;refseq.proteinCoordStr_2=p.A141P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=647;refseq.spliceDist_2=647;refseq.start_1=202855323;refseq.start_2=202855323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 202855324 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.420G>C;refseq.codingCoordStr_2=c.420G>C;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=202855324;refseq.end_2=202855324;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=796;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L140L;refseq.proteinCoordStr_2=p.L140L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=646;refseq.spliceDist_2=646;refseq.start_1=202855324;refseq.start_2=202855324;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr1 202855724 . G A 186.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.19;MQ0=0;OQ=1017.93;QD=16.97;RankSumP=0.643174;SB=-202.87;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.20C>T;refseq.codingCoordStr_2=c.20C>T;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=202855724;refseq.end_2=202855724;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=396;refseq.name2_1=LRRN2;refseq.name2_2=LRRN2;refseq.name_1=NM_006338;refseq.name_2=NM_201630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P7L;refseq.proteinCoordStr_2=p.P7L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=246;refseq.spliceDist_2=246;refseq.start_1=202855724;refseq.start_2=202855724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr1 203190643 . C T 299.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.51;MQ0=0;OQ=1918.80;QD=18.27;RankSumP=0.423900;SB=-803.84;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.476C>T;refseq.codingCoordStr_2=c.476C>T;refseq.codingCoordStr_3=c.458C>T;refseq.codingCoordStr_4=c.458C>T;refseq.codingCoordStr_5=c.458C>T;refseq.codingCoordStr_6=c.458C>T;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.codonCoord_3=153;refseq.codonCoord_4=153;refseq.codonCoord_5=153;refseq.codonCoord_6=153;refseq.end_1=203190643;refseq.end_2=203190643;refseq.end_3=203190643;refseq.end_4=203190643;refseq.end_5=203190643;refseq.end_6=203190643;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=804;refseq.mrnaCoord_3=548;refseq.mrnaCoord_4=786;refseq.mrnaCoord_5=786;refseq.mrnaCoord_6=786;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T159M;refseq.proteinCoordStr_2=p.T159M;refseq.proteinCoordStr_3=p.T153M;refseq.proteinCoordStr_4=p.T153M;refseq.proteinCoordStr_5=p.T153M;refseq.proteinCoordStr_6=p.T153M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.spliceDist_4=-60;refseq.spliceDist_5=-60;refseq.spliceDist_6=-60;refseq.start_1=203190643;refseq.start_2=203190643;refseq.start_3=203190643;refseq.start_4=203190643;refseq.start_5=203190643;refseq.start_6=203190643;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantAA_6=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;refseq.variantCodon_6=ATG;set=Intersection GT 0/1 chr1 203206478 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1115T>G;refseq.codingCoordStr_2=c.1115T>G;refseq.codingCoordStr_3=c.1148T>G;refseq.codingCoordStr_4=c.1148T>G;refseq.codingCoordStr_5=c.1097T>G;refseq.codingCoordStr_6=c.1148T>G;refseq.codonCoord_1=372;refseq.codonCoord_2=372;refseq.codonCoord_3=383;refseq.codonCoord_4=383;refseq.codonCoord_5=366;refseq.codonCoord_6=383;refseq.end_1=203206478;refseq.end_2=203206478;refseq.end_3=203206478;refseq.end_4=203206478;refseq.end_5=203206478;refseq.end_6=203206478;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1443;refseq.mrnaCoord_2=1443;refseq.mrnaCoord_3=1238;refseq.mrnaCoord_4=1476;refseq.mrnaCoord_5=1425;refseq.mrnaCoord_6=1476;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V372G;refseq.proteinCoordStr_2=p.V372G;refseq.proteinCoordStr_3=p.V383G;refseq.proteinCoordStr_4=p.V383G;refseq.proteinCoordStr_5=p.V366G;refseq.proteinCoordStr_6=p.V383G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.spliceDist_5=-21;refseq.spliceDist_6=-21;refseq.start_1=203206478;refseq.start_2=203206478;refseq.start_3=203206478;refseq.start_4=203206478;refseq.start_5=203206478;refseq.start_6=203206478;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr1 203211064 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=123;Dels=0.00;HRun=2;HaplotypeScore=4.89;MQ=97.63;MQ0=0;OQ=2252.09;QD=18.31;RankSumP=0.303398;SB=-1058.16;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1601G>A;refseq.codingCoordStr_2=c.1601G>A;refseq.codingCoordStr_3=c.1634G>A;refseq.codingCoordStr_4=c.1634G>A;refseq.codingCoordStr_5=c.1583G>A;refseq.codingCoordStr_6=c.1634G>A;refseq.codonCoord_1=534;refseq.codonCoord_2=534;refseq.codonCoord_3=545;refseq.codonCoord_4=545;refseq.codonCoord_5=528;refseq.codonCoord_6=545;refseq.end_1=203211064;refseq.end_2=203211064;refseq.end_3=203211064;refseq.end_4=203211064;refseq.end_5=203211064;refseq.end_6=203211064;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1929;refseq.mrnaCoord_2=1929;refseq.mrnaCoord_3=1724;refseq.mrnaCoord_4=1962;refseq.mrnaCoord_5=1911;refseq.mrnaCoord_6=1962;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.R534K;refseq.proteinCoordStr_2=p.R534K;refseq.proteinCoordStr_3=p.R545K;refseq.proteinCoordStr_4=p.R545K;refseq.proteinCoordStr_5=p.R528K;refseq.proteinCoordStr_6=p.R545K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.referenceCodon_5=AGA;refseq.referenceCodon_6=AGA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.spliceDist_5=43;refseq.spliceDist_6=43;refseq.start_1=203211064;refseq.start_2=203211064;refseq.start_3=203211064;refseq.start_4=203211064;refseq.start_5=203211064;refseq.start_6=203211064;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;set=Intersection GT 1/0 chr1 203211077 . G A 221.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=97.79;MQ0=0;OQ=2241.04;QD=18.83;RankSumP=0.208695;SB=-988.57;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1614G>A;refseq.codingCoordStr_2=c.1614G>A;refseq.codingCoordStr_3=c.1647G>A;refseq.codingCoordStr_4=c.1647G>A;refseq.codingCoordStr_5=c.1596G>A;refseq.codingCoordStr_6=c.1647G>A;refseq.codonCoord_1=538;refseq.codonCoord_2=538;refseq.codonCoord_3=549;refseq.codonCoord_4=549;refseq.codonCoord_5=532;refseq.codonCoord_6=549;refseq.end_1=203211077;refseq.end_2=203211077;refseq.end_3=203211077;refseq.end_4=203211077;refseq.end_5=203211077;refseq.end_6=203211077;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1942;refseq.mrnaCoord_2=1942;refseq.mrnaCoord_3=1737;refseq.mrnaCoord_4=1975;refseq.mrnaCoord_5=1924;refseq.mrnaCoord_6=1975;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T538T;refseq.proteinCoordStr_2=p.T538T;refseq.proteinCoordStr_3=p.T549T;refseq.proteinCoordStr_4=p.T549T;refseq.proteinCoordStr_5=p.T532T;refseq.proteinCoordStr_6=p.T549T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.spliceDist_4=56;refseq.spliceDist_5=56;refseq.spliceDist_6=56;refseq.start_1=203211077;refseq.start_2=203211077;refseq.start_3=203211077;refseq.start_4=203211077;refseq.start_5=203211077;refseq.start_6=203211077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;set=Intersection GT 1/0 chr1 203211097 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1634T>G;refseq.codingCoordStr_2=c.1634T>G;refseq.codingCoordStr_3=c.1667T>G;refseq.codingCoordStr_4=c.1667T>G;refseq.codingCoordStr_5=c.1616T>G;refseq.codingCoordStr_6=c.1667T>G;refseq.codonCoord_1=545;refseq.codonCoord_2=545;refseq.codonCoord_3=556;refseq.codonCoord_4=556;refseq.codonCoord_5=539;refseq.codonCoord_6=556;refseq.end_1=203211097;refseq.end_2=203211097;refseq.end_3=203211097;refseq.end_4=203211097;refseq.end_5=203211097;refseq.end_6=203211097;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1962;refseq.mrnaCoord_2=1962;refseq.mrnaCoord_3=1757;refseq.mrnaCoord_4=1995;refseq.mrnaCoord_5=1944;refseq.mrnaCoord_6=1995;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V545G;refseq.proteinCoordStr_2=p.V545G;refseq.proteinCoordStr_3=p.V556G;refseq.proteinCoordStr_4=p.V556G;refseq.proteinCoordStr_5=p.V539G;refseq.proteinCoordStr_6=p.V556G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.spliceDist_4=-73;refseq.spliceDist_5=-73;refseq.spliceDist_6=-73;refseq.start_1=203211097;refseq.start_2=203211097;refseq.start_3=203211097;refseq.start_4=203211097;refseq.start_5=203211097;refseq.start_6=203211097;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr1 203211159 . A G 194.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.64;MQ0=0;OQ=1951.99;QD=18.07;RankSumP=0.0428477;SB=-765.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1696A>G;refseq.codingCoordStr_2=c.1696A>G;refseq.codingCoordStr_3=c.1729A>G;refseq.codingCoordStr_4=c.1729A>G;refseq.codingCoordStr_5=c.1678A>G;refseq.codingCoordStr_6=c.1729A>G;refseq.codonCoord_1=566;refseq.codonCoord_2=566;refseq.codonCoord_3=577;refseq.codonCoord_4=577;refseq.codonCoord_5=560;refseq.codonCoord_6=577;refseq.end_1=203211159;refseq.end_2=203211159;refseq.end_3=203211159;refseq.end_4=203211159;refseq.end_5=203211159;refseq.end_6=203211159;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2024;refseq.mrnaCoord_2=2024;refseq.mrnaCoord_3=1819;refseq.mrnaCoord_4=2057;refseq.mrnaCoord_5=2006;refseq.mrnaCoord_6=2057;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I566V;refseq.proteinCoordStr_2=p.I566V;refseq.proteinCoordStr_3=p.I577V;refseq.proteinCoordStr_4=p.I577V;refseq.proteinCoordStr_5=p.I560V;refseq.proteinCoordStr_6=p.I577V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.spliceDist_4=-11;refseq.spliceDist_5=-11;refseq.spliceDist_6=-11;refseq.start_1=203211159;refseq.start_2=203211159;refseq.start_3=203211159;refseq.start_4=203211159;refseq.start_5=203211159;refseq.start_6=203211159;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;set=Intersection GT 0/1 chr1 203212437 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.77;MQ0=0;OQ=1130.15;QD=13.78;RankSumP=0.365760;SB=-275.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.1722C>T;refseq.codingCoordStr_2=c.1722C>T;refseq.codingCoordStr_3=c.1755C>T;refseq.codingCoordStr_4=c.1755C>T;refseq.codingCoordStr_5=c.1704C>T;refseq.codingCoordStr_6=c.1755C>T;refseq.codonCoord_1=574;refseq.codonCoord_2=574;refseq.codonCoord_3=585;refseq.codonCoord_4=585;refseq.codonCoord_5=568;refseq.codonCoord_6=585;refseq.end_1=203212437;refseq.end_2=203212437;refseq.end_3=203212437;refseq.end_4=203212437;refseq.end_5=203212437;refseq.end_6=203212437;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2050;refseq.mrnaCoord_2=2050;refseq.mrnaCoord_3=1845;refseq.mrnaCoord_4=2083;refseq.mrnaCoord_5=2032;refseq.mrnaCoord_6=2083;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name2_5=NFASC;refseq.name2_6=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001005389;refseq.name_3=NM_001160331;refseq.name_4=NM_001160332;refseq.name_5=NM_001160333;refseq.name_6=NM_015090;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.D574D;refseq.proteinCoordStr_2=p.D574D;refseq.proteinCoordStr_3=p.D585D;refseq.proteinCoordStr_4=p.D585D;refseq.proteinCoordStr_5=p.D568D;refseq.proteinCoordStr_6=p.D585D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.spliceDist_4=16;refseq.spliceDist_5=16;refseq.spliceDist_6=16;refseq.start_1=203212437;refseq.start_2=203212437;refseq.start_3=203212437;refseq.start_4=203212437;refseq.start_5=203212437;refseq.start_6=203212437;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;set=Intersection GT 0/1 chr1 203215282 . A G 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=795;Dels=0.00;HRun=0;HaplotypeScore=29.53;MQ=98.38;MQ0=0;OQ=26848.32;QD=33.77;RankSumP=1.00000;SB=-10863.92;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.2148A>G;refseq.codingCoordStr_2=c.2181A>G;refseq.codingCoordStr_3=c.2136A>G;refseq.codingCoordStr_4=c.2136A>G;refseq.codonCoord_1=716;refseq.codonCoord_2=727;refseq.codonCoord_3=712;refseq.codonCoord_4=712;refseq.end_1=203215282;refseq.end_2=203215282;refseq.end_3=203215282;refseq.end_4=203215282;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2476;refseq.mrnaCoord_2=2271;refseq.mrnaCoord_3=2464;refseq.mrnaCoord_4=2464;refseq.name2_1=NFASC;refseq.name2_2=NFASC;refseq.name2_3=NFASC;refseq.name2_4=NFASC;refseq.name_1=NM_001005388;refseq.name_2=NM_001160331;refseq.name_3=NM_001160332;refseq.name_4=NM_015090;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P716P;refseq.proteinCoordStr_2=p.P727P;refseq.proteinCoordStr_3=p.P712P;refseq.proteinCoordStr_4=p.P712P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.start_1=203215282;refseq.start_2=203215282;refseq.start_3=203215282;refseq.start_4=203215282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chr1 203294360 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=0.26;MQ=98.85;MQ0=0;OQ=830.34;QD=12.97;RankSumP=0.0677120;SB=-386.85;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.433G>A;refseq.codonCoord=145;refseq.end=203294360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_005076;refseq.name2=CNTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A145T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=42;refseq.start=203294360;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 203294975 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.628A>C;refseq.codonCoord=210;refseq.end=203294975;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_005076;refseq.name2=CNTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T210P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-70;refseq.start=203294975;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 203297739 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=6.17;MQ=98.72;MQ0=0;OQ=323.28;QD=11.55;RankSumP=0.0254778;SB=-105.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1097C>T;refseq.codonCoord=366;refseq.end=203297739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_005076;refseq.name2=CNTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P366L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-14;refseq.start=203297739;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr1 203305271 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0611381;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2155G>T;refseq.codonCoord=719;refseq.end=203305271;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2424;refseq.name=NM_005076;refseq.name2=CNTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G719*;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=30;refseq.start=203305271;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 0/1 chr1 203305619 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=5.15999e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2238C>A;refseq.codonCoord=746;refseq.end=203305619;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2507;refseq.name=NM_005076;refseq.name2=CNTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y746*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=42;refseq.start=203305619;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr1 203319562 . G A 351.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=2.02;MQ=98.40;MQ0=0;OQ=4478.64;QD=39.99;RankSumP=1.00000;SB=-2206.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.510C>T;refseq.codonCoord=170;refseq.end=203319562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_203376;refseq.name2=TMEM81;refseq.positionType=CDS;refseq.proteinCoordStr=p.L170L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=650;refseq.start=203319562;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr1 203319842 . C T 210.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=12.05;MQ=98.98;MQ0=0;OQ=15274.52;QD=42.43;RankSumP=1.00000;SB=-6878.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.230G>A;refseq.codonCoord=77;refseq.end=203319842;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_203376;refseq.name2=TMEM81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R77Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=370;refseq.start=203319842;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 203337388 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.595A>C;refseq.codonCoord=199;refseq.end=203337388;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_005057;refseq.name2=RBBP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-38;refseq.start=203337388;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 203397036 . A G 242.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=7.79;MQ=98.87;MQ0=0;OQ=8216.26;QD=36.68;RankSumP=1.00000;SB=-3450.07;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1921T>C;refseq.codingCoordStr_2=c.1921T>C;refseq.codonCoord_1=641;refseq.codonCoord_2=641;refseq.end_1=203397036;refseq.end_2=203397036;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1985;refseq.mrnaCoord_2=1985;refseq.name2_1=DSTYK;refseq.name2_2=DSTYK;refseq.name_1=NM_015375;refseq.name_2=NM_199462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C641R;refseq.proteinCoordStr_2=p.C641R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=203397036;refseq.start_2=203397036;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr1 203397785 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1818+2;refseq.codingCoordStr_2=c.1818+2;refseq.end_1=203397785;refseq.end_2=203397785;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=DSTYK;refseq.name2_2=DSTYK;refseq.name_1=NM_015375;refseq.name_2=NM_199462;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=203397785;refseq.start_2=203397785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr1 203397934 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1671A>C;refseq.codingCoordStr_2=c.1671A>C;refseq.codonCoord_1=557;refseq.codonCoord_2=557;refseq.end_1=203397934;refseq.end_2=203397934;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1735;refseq.mrnaCoord_2=1735;refseq.name2_1=DSTYK;refseq.name2_2=DSTYK;refseq.name_1=NM_015375;refseq.name_2=NM_199462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P557P;refseq.proteinCoordStr_2=p.P557P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=203397934;refseq.start_2=203397934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr1 203477450 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.83;MQ0=0;OQ=1350.04;QD=12.50;RankSumP=0.0415729;SB=-625.19;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.402C>T;refseq.codonCoord=134;refseq.end=203477450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_014858;refseq.name2=TMCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y134Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=195;refseq.start=203477450;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr1 203504898 . A G 199.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=8.82;MQ=98.41;MQ0=0;OQ=5890.42;QD=37.28;RankSumP=1.00000;SB=-2166.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.945A>G;refseq.codonCoord=315;refseq.end=203504898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1600;refseq.name=NM_014858;refseq.name2=TMCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A315A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=198;refseq.start=203504898;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 203505153 . C T 78.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=95.31;MQ0=0;OQ=1052.40;QD=28.44;RankSumP=1.00000;SB=-314.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1200C>T;refseq.codonCoord=400;refseq.end=203505153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1855;refseq.name=NM_014858;refseq.name2=TMCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G400G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=453;refseq.start=203505153;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 203506874 . C T 391.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=3584.36;QD=35.14;RankSumP=1.00000;SB=-1333.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1686C>T;refseq.codonCoord=562;refseq.end=203506874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2341;refseq.name=NM_014858;refseq.name2=TMCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y562Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=203506874;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 203539549 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=98.76;MQ0=0;OQ=915.29;QD=11.73;RankSumP=0.277787;SB=-88.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1539G>A;refseq.codonCoord=513;refseq.end=203539549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1666;refseq.name=NM_030952;refseq.name2=NUAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L513L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=716;refseq.start=203539549;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr1 203539606 . C G 196.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=98.59;MQ0=0;OQ=2781.38;QD=19.59;RankSumP=0.498485;SB=-1016.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1482G>C;refseq.codonCoord=494;refseq.end=203539606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_030952;refseq.name2=NUAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L494L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=659;refseq.start=203539606;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 203542044 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=9.00;MQ=98.82;MQ0=0;OQ=18130.49;QD=41.11;RankSumP=1.00000;SB=-8791.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.585T>C;refseq.codonCoord=195;refseq.end=203542044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_030952;refseq.name2=NUAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G195G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=203542044;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 203574958 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=2;HaplotypeScore=6.34;MQ=98.53;MQ0=0;OQ=3799.29;QD=20.88;RankSumP=0.00167256;SB=-754.81;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.744C>T;refseq.codonCoord=248;refseq.end=203574958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1312;refseq.name=NM_018203;refseq.name2=KLHDC8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F248F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-14;refseq.start=203574958;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/0 chr1 203574991 . C T 242.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=5.34;MQ=98.49;MQ0=0;OQ=4869.99;QD=21.36;RankSumP=0.0685433;SB=-1949.79;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.711G>A;refseq.codonCoord=237;refseq.end=203574991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1279;refseq.name=NM_018203;refseq.name2=KLHDC8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R237R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-47;refseq.start=203574991;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr1 203575537 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.399C>G;refseq.codonCoord=133;refseq.end=203575537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_018203;refseq.name2=KLHDC8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G133G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=23;refseq.start=203575537;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 203656276 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=402;Dels=0.00;HRun=2;HaplotypeScore=3.89;MQ=98.83;MQ0=0;OQ=8388.15;QD=20.87;RankSumP=0.486451;SB=-2520.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=203656276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=114;refseq.name=NM_001001552;refseq.name2=LEMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=50;refseq.start=203656276;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 203759379 . A G 24.49 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=97.53;MQ0=0;QD=3.06;RankSumP=0.428571;SB=-10.00;SecondBestBaseQ=21;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.273+3;refseq.codingCoordStr_2=c.273+3;refseq.codingCoordStr_3=c.276A>G;refseq.codonCoord_3=92;refseq.end_1=203759379;refseq.end_2=203759379;refseq.end_3=203759379;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=538;refseq.name2_1=CDK18;refseq.name2_2=CDK18;refseq.name2_3=CDK18;refseq.name_1=NM_002596;refseq.name_2=NM_212502;refseq.name_3=NM_212503;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V92V;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=-88;refseq.spliceInfo_1=splice-donor_3;refseq.spliceInfo_2=splice-donor_3;refseq.start_1=203759379;refseq.start_2=203759379;refseq.start_3=203759379;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr1 203856197 . C T 243.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=98.86;MQ0=0;OQ=2563.38;QD=14.73;RankSumP=0.0424082;SB=-874.76;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.600G>A;refseq.codingCoordStr_2=c.600G>A;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=203856197;refseq.end_2=203856197;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1850;refseq.mrnaCoord_2=1850;refseq.name2_1=ELK4;refseq.name2_2=ELK4;refseq.name_1=NM_001973;refseq.name_2=NM_021795;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P200P;refseq.proteinCoordStr_2=p.P200P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=393;refseq.spliceDist_2=393;refseq.start_1=203856197;refseq.start_2=203856197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr1 203897799 . A C 15.75 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=84;Dels=0.00;HRun=2;HaplotypeScore=9.85;MQ=97.28;MQ0=0;QD=0.19;RankSumP=0.00000;SB=110.37;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1037T>G;refseq.codonCoord=346;refseq.end=203897799;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_033102;refseq.name2=SLC45A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V346G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=79;refseq.start=203897799;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 204034508 . G A 220.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=98.51;MQ0=0;OQ=7761.91;QD=34.04;RankSumP=1.00000;SB=-2712.04;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.756C>T;refseq.codonCoord=252;refseq.end=204034508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1628;refseq.name=NM_173854;refseq.name2=SLC41A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N252N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=59;refseq.start=204034508;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 204068495 . A G 191.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=14.19;MQ=98.61;MQ0=0;OQ=14682.33;QD=40.56;RankSumP=1.00000;SB=-4693.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1139T>C;refseq.codonCoord=380;refseq.end=204068495;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_152491;refseq.name2=PM20D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I380T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=23;refseq.start=204068495;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 204081120 . T C 427.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=4925.41;QD=38.48;RankSumP=1.00000;SB=-1907.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.445A>G;refseq.codonCoord=149;refseq.end=204081120;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_152491;refseq.name2=PM20D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I149V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-45;refseq.start=204081120;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr1 204312091 . G T 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.245G>T;refseq.codonCoord=82;refseq.end=204312091;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_001123168;refseq.name2=FAM72A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G82V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=204312091;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 1/1 chr1 204312141 . G A 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.295G>A;refseq.codonCoord=99;refseq.end=204312141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=689;refseq.name=NM_001123168;refseq.name2=FAM72A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G99R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-61;refseq.start=204312141;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/1 chr1 204320597 . T C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.514286;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.373T>C;refseq.codonCoord=125;refseq.end=204320597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_001123168;refseq.name2=FAM72A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W125R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=18;refseq.start=204320597;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr1 204406026 . C T 229.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=8.86;MQ=98.79;MQ0=0;OQ=4717.38;QD=18.21;RankSumP=0.344131;SB=-1165.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.495G>A;refseq.codonCoord=165;refseq.end=204406026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_001007544;refseq.name2=C1orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.A165A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=177;refseq.start=204406026;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 204406038 . C T 231.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=98.81;MQ0=0;OQ=5121.67;QD=17.42;RankSumP=0.429843;SB=-1595.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=204406038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_001007544;refseq.name2=C1orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.L161L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=165;refseq.start=204406038;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr1 204406197 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=1010.62;QD=16.57;RankSumP=0.721489;SB=-234.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.324A>G;refseq.codonCoord=108;refseq.end=204406197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_001007544;refseq.name2=C1orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.T108T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=204406197;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 204494133 . T C 211.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.84;MQ0=0;OQ=3233.06;QD=18.16;RankSumP=0.448730;SB=-1562.13;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.699T>C;refseq.codingCoordStr_2=c.699T>C;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.end_1=204494133;refseq.end_2=204494133;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=817;refseq.mrnaCoord_2=817;refseq.name2_1=CTSE;refseq.name2_2=CTSE;refseq.name_1=NM_001910;refseq.name_2=NM_148964;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F233F;refseq.proteinCoordStr_2=p.F233F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=204494133;refseq.start_2=204494133;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr1 204495426 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=3;HaplotypeScore=4.40;MQ=98.89;MQ0=0;OQ=2782.83;QD=16.76;RankSumP=0.00838916;SB=-772.88;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.870T>C;refseq.codonCoord_2=290;refseq.end_1=204495574;refseq.end_2=204495426;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=988;refseq.name2_1=CTSE;refseq.name2_2=CTSE;refseq.name_1=NM_148964;refseq.name_2=NM_001910;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P290P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=-58;refseq.start_1=204494230;refseq.start_2=204495426;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 1/0 chr1 204714365 . A G 172.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=98.32;MQ0=0;OQ=3634.26;QD=35.63;RankSumP=1.00000;SB=-1468.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.156A>G;refseq.codonCoord=52;refseq.end=204714365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_014002;refseq.name2=IKBKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q52Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=69;refseq.start=204714365;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr1 204714410 . T C 418.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.97;MQ0=0;OQ=3503.15;QD=37.27;RankSumP=1.00000;SB=-1654.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.201T>C;refseq.codonCoord=67;refseq.end=204714410;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_014002;refseq.name2=IKBKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.I67I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-28;refseq.start=204714410;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 204716688 . A G 141.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=8.77;MQ=98.82;MQ0=0;OQ=3156.18;QD=14.61;RankSumP=0.410159;SB=-965.82;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.585A>G;refseq.codonCoord=195;refseq.end=204716688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_014002;refseq.name2=IKBKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q195Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=45;refseq.start=204716688;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 204717730 . G A 153.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=155.09;QD=19.39;RankSumP=0.773810;SB=-83.31;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.717G>A;refseq.codonCoord=239;refseq.end=204717730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_014002;refseq.name2=IKBKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T239T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=16;refseq.start=204717730;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr1 204747606 . A C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=92.73;MQ0=0;OQ=290.45;QD=26.40;RankSumP=1.00000;SB=-157.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.48A>C;refseq.codingCoordStr_2=c.48A>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=204747606;refseq.end_2=204747606;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=105;refseq.mrnaCoord_2=105;refseq.name2_1=RASSF5;refseq.name2_2=RASSF5;refseq.name_1=NM_182663;refseq.name_2=NM_182664;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L16L;refseq.proteinCoordStr_2=p.L16L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=204747606;refseq.start_2=204747606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr1 204840282 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=478;Dels=0.00;HRun=3;HaplotypeScore=4.74;MQ=98.72;MQ0=0;OQ=18492.37;QD=38.69;RankSumP=1.00000;SB=-7982.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.906T>C;refseq.codonCoord=302;refseq.end=204840282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1115;refseq.name=NM_006893;refseq.name2=LGTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P302P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=204840282;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 204970018 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=584;Dels=0.00;HRun=2;HaplotypeScore=46.78;MQ=98.49;MQ0=0;OQ=516.09;QD=0.88;RankSumP=0.00000;SB=998.21;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.643A>C;refseq.codingCoordStr_2=c.643A>C;refseq.codonCoord_1=215;refseq.codonCoord_2=215;refseq.end_1=204970018;refseq.end_2=204970018;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=929;refseq.mrnaCoord_2=929;refseq.name2_1=MAPKAPK2;refseq.name2_2=MAPKAPK2;refseq.name_1=NM_004759;refseq.name_2=NM_032960;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T215P;refseq.proteinCoordStr_2=p.T215P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=204970018;refseq.start_2=204970018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 205082580 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.44;MQ0=0;OQ=557.88;QD=13.28;RankSumP=0.593971;SB=-284.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.524T>C;refseq.codingCoordStr_2=c.638T>C;refseq.codonCoord_1=175;refseq.codonCoord_2=213;refseq.end_1=205082580;refseq.end_2=205082580;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1463;refseq.mrnaCoord_2=663;refseq.name2_1=IL19;refseq.name2_2=IL19;refseq.name_1=NM_013371;refseq.name_2=NM_153758;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F175S;refseq.proteinCoordStr_2=p.F213S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=205082580;refseq.start_2=205082580;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr1 205141528 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=1;HaplotypeScore=17.01;MQ=98.90;MQ0=0;OQ=6042.56;QD=19.88;RankSumP=0.362278;SB=-1952.96;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.370T>C;refseq.codingCoordStr_2=c.-105T>C;refseq.codonCoord_1=124;refseq.end_1=205141528;refseq.end_2=205141528;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=644;refseq.mrnaCoord_2=302;refseq.name2_1=IL24;refseq.name2_2=IL24;refseq.name_1=NM_006850;refseq.name_2=NM_181339;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.Y124H;refseq.referenceAA_1=Tyr;refseq.referenceCodon_1=TAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=205141528;refseq.start_2=205141528;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantCodon_1=CAC;set=Intersection GT 1/0 chr1 205154058 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=1085.23;QD=19.04;RankSumP=0.726954;SB=-158.14;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.42G>A;refseq.codingCoordStr_3=c.42G>A;refseq.codonCoord_2=14;refseq.codonCoord_3=14;refseq.end_1=205161775;refseq.end_2=205154058;refseq.end_3=205154058;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=179;refseq.mrnaCoord_3=221;refseq.name2_1=FAIM3;refseq.name2_2=FAIM3;refseq.name2_3=FAIM3;refseq.name_1=NM_001142473;refseq.name_2=NM_001142472;refseq.name_3=NM_005449;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S14S;refseq.proteinCoordStr_3=p.S14S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.start_1=205153021;refseq.start_2=205154058;refseq.start_3=205154058;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 0/1 chr1 205175739 . C T 142.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=10.91;MQ=98.72;MQ0=0;OQ=6194.97;QD=20.65;RankSumP=0.0984792;SB=-2334.81;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1093G>A;refseq.codonCoord=365;refseq.end=205175739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_002644;refseq.name2=PIGR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G365S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=48;refseq.start=205175739;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 205177559 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=1071.91;QD=16.49;RankSumP=0.184229;SB=-176.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=205177559;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_002644;refseq.name2=PIGR;refseq.positionType=CDS;refseq.proteinCoordStr=p.V183V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=161;refseq.start=205177559;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 205262402 . A G 341.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.72;MQ0=0;OQ=6110.32;QD=38.19;RankSumP=1.00000;SB=-2516.74;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.592T>C;refseq.codingCoordStr_2=c.1330T>C;refseq.codonCoord_1=198;refseq.codonCoord_2=444;refseq.end_1=205262402;refseq.end_2=205262402;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1403;refseq.mrnaCoord_2=1589;refseq.name2_1=C1orf116;refseq.name2_2=C1orf116;refseq.name_1=NM_001083924;refseq.name_2=NM_023938;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S198P;refseq.proteinCoordStr_2=p.S444P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=1047;refseq.spliceDist_2=1047;refseq.start_1=205262402;refseq.start_2=205262402;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr1 205290873 . C A 11.71 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.87;MQ0=0;QD=1.30;RankSumP=0.355556;SB=-24.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.126G>T;refseq.codonCoord=42;refseq.end=205290873;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_018566;refseq.name2=YOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R42R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=173;refseq.start=205290873;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/0 chr1 205305042 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=99.00;MQ0=0;OQ=1831.35;QD=16.06;RankSumP=0.115945;SB=-284.15;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.546C>T;refseq.codingCoordStr_2=c.546C>T;refseq.codonCoord_1=182;refseq.codonCoord_2=182;refseq.end_1=205305042;refseq.end_2=205305042;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=655;refseq.name2_1=PFKFB2;refseq.name2_2=PFKFB2;refseq.name_1=NM_001018053;refseq.name_2=NM_006212;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N182N;refseq.proteinCoordStr_2=p.N182N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=205305042;refseq.start_2=205305042;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 205310276 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1121A>G;refseq.codingCoordStr_2=c.1121A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=205310276;refseq.end_2=205310276;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1230;refseq.name2_1=PFKFB2;refseq.name2_2=PFKFB2;refseq.name_1=NM_001018053;refseq.name_2=NM_006212;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E374G;refseq.proteinCoordStr_2=p.E374G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=205310276;refseq.start_2=205310276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 205318944 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1373T>G;refseq.codonCoord=458;refseq.end=205318944;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_001018053;refseq.name2=PFKFB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V458G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=205318944;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 205336542 . C T 102.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.97;MQ0=0;OQ=4935.18;QD=18.35;RankSumP=0.0164235;SB=-1746.52;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.462C>T;refseq.codingCoordStr_2=c.459C>T;refseq.codingCoordStr_3=c.462C>T;refseq.codingCoordStr_4=c.459C>T;refseq.codingCoordStr_5=c.462C>T;refseq.codonCoord_1=154;refseq.codonCoord_2=153;refseq.codonCoord_3=154;refseq.codonCoord_4=153;refseq.codonCoord_5=154;refseq.end_1=205336542;refseq.end_2=205336542;refseq.end_3=205336542;refseq.end_4=205336542;refseq.end_5=205336542;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=752;refseq.mrnaCoord_3=592;refseq.mrnaCoord_4=589;refseq.mrnaCoord_5=591;refseq.name2_1=C4BPB;refseq.name2_2=C4BPB;refseq.name2_3=C4BPB;refseq.name2_4=C4BPB;refseq.name2_5=C4BPB;refseq.name_1=NM_000716;refseq.name_2=NM_001017364;refseq.name_3=NM_001017365;refseq.name_4=NM_001017366;refseq.name_5=NM_001017367;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N154N;refseq.proteinCoordStr_2=p.N153N;refseq.proteinCoordStr_3=p.N154N;refseq.proteinCoordStr_4=p.N153N;refseq.proteinCoordStr_5=p.N154N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.spliceDist_5=-42;refseq.start_1=205336542;refseq.start_2=205336542;refseq.start_3=205336542;refseq.start_4=205336542;refseq.start_5=205336542;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 0/1 chr1 205353004 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=5;HaplotypeScore=5.81;MQ=98.62;MQ0=0;OQ=1803.23;QD=12.52;RankSumP=0.467734;SB=-922.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11C>A;refseq.codonCoord=4;refseq.end=205353004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_000715;refseq.name2=C4BPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=36;refseq.start=205353004;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 1/0 chr1 205364303 . T C 383.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.59;MQ0=0;OQ=8251.02;QD=38.02;RankSumP=1.00000;SB=-3719.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.675T>C;refseq.codonCoord=225;refseq.end=205364303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_000715;refseq.name2=C4BPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G225G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-32;refseq.start=205364303;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 205366693 . G A 246.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=98.72;MQ0=0;OQ=5394.81;QD=17.69;RankSumP=0.371802;SB=-1496.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.719G>A;refseq.codonCoord=240;refseq.end=205366693;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_000715;refseq.name2=C4BPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R240H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=13;refseq.start=205366693;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 205371523 . T C 298.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=6.38;MQ=98.73;MQ0=0;OQ=2635.41;QD=17.00;RankSumP=0.308819;SB=-833.72;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.899T>C;refseq.codonCoord=300;refseq.end=205371523;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_000715;refseq.name2=C4BPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.I300T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=205371523;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 205719987 . A G 275.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.98;MQ0=0;OQ=5067.99;QD=17.97;RankSumP=0.308343;SB=-2032.15;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3154A>G;refseq.codingCoordStr_2=c.2977A>G;refseq.codonCoord_1=1052;refseq.codonCoord_2=993;refseq.end_1=205719987;refseq.end_2=205719987;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3273;refseq.mrnaCoord_2=3096;refseq.name2_1=CR2;refseq.name2_2=CR2;refseq.name_1=NM_001006658;refseq.name_2=NM_001877;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1052V;refseq.proteinCoordStr_2=p.I993V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=205719987;refseq.start_2=205719987;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr1 205720018 . C A 193.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.93;MQ0=0;OQ=4441.67;QD=20.76;RankSumP=0.214968;SB=-1301.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3185C>A;refseq.codingCoordStr_2=c.3008C>A;refseq.codonCoord_1=1062;refseq.codonCoord_2=1003;refseq.end_1=205720018;refseq.end_2=205720018;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3304;refseq.mrnaCoord_2=3127;refseq.name2_1=CR2;refseq.name2_2=CR2;refseq.name_1=NM_001006658;refseq.name_2=NM_001877;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1062E;refseq.proteinCoordStr_2=p.A1003E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=205720018;refseq.start_2=205720018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr1 206274462 . G A 438.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.75;MQ0=0;OQ=8501.64;QD=40.87;RankSumP=1.00000;SB=-2223.39;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4863C>T;refseq.codonCoord=1621;refseq.end=206274462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5621;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1621Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=206274462;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr1 206285161 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3513T>C;refseq.codonCoord=1171;refseq.end=206285161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4271;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1171P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=18;refseq.start=206285161;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 206319269 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2545T>C;refseq.codonCoord=849;refseq.end=206319269;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3303;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S849P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-42;refseq.start=206319269;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 206319338 . A C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.00807340;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2476T>G;refseq.codonCoord=826;refseq.end=206319338;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3234;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C826G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=81;refseq.start=206319338;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 206338936 . A C 98 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=8.52252e-08;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1609T>G;refseq.codonCoord=537;refseq.end=206338936;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2367;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C537G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=206338936;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr1 206343131 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1591T>G;refseq.codonCoord=531;refseq.end=206343131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2349;refseq.name=NM_025179;refseq.name2=PLXNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C531G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-17;refseq.start=206343131;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 207851829 . G A 295.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.65;MQ0=0;OQ=2328.17;QD=16.87;RankSumP=0.00209589;SB=-807.34;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.985G>A;refseq.codonCoord=329;refseq.end=207851829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1087;refseq.name=NM_020439;refseq.name2=CAMK1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.V329I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=70;refseq.start=207851829;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/0 chr1 207851963 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1119A>C;refseq.codonCoord=373;refseq.end=207851963;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_020439;refseq.name2=CAMK1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.L373F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=204;refseq.start=207851963;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr1 207855326 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=98.97;MQ0=0;OQ=1778.27;QD=13.37;RankSumP=0.121622;SB=-643.63;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3432A>G;refseq.codingCoordStr_2=c.3432A>G;refseq.codingCoordStr_3=c.3432A>G;refseq.codonCoord_1=1144;refseq.codonCoord_2=1144;refseq.codonCoord_3=1144;refseq.end_1=207855326;refseq.end_2=207855326;refseq.end_3=207855326;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3576;refseq.mrnaCoord_2=3822;refseq.mrnaCoord_3=3550;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1144S;refseq.proteinCoordStr_2=p.S1144S;refseq.proteinCoordStr_3=p.S1144S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=207855326;refseq.start_2=207855326;refseq.start_3=207855326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr1 207857916 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.3010A>C;refseq.codingCoordStr_2=c.3010A>C;refseq.codingCoordStr_3=c.3010A>C;refseq.codonCoord_1=1004;refseq.codonCoord_2=1004;refseq.codonCoord_3=1004;refseq.end_1=207857916;refseq.end_2=207857916;refseq.end_3=207857916;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3154;refseq.mrnaCoord_2=3400;refseq.mrnaCoord_3=3128;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1004P;refseq.proteinCoordStr_2=p.T1004P;refseq.proteinCoordStr_3=p.T1004P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=207857916;refseq.start_2=207857916;refseq.start_3=207857916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr1 207863571 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=6.06466e-06;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2260C>G;refseq.codingCoordStr_2=c.2260C>G;refseq.codingCoordStr_3=c.2260C>G;refseq.codonCoord_1=754;refseq.codonCoord_2=754;refseq.codonCoord_3=754;refseq.end_1=207863571;refseq.end_2=207863571;refseq.end_3=207863571;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2404;refseq.mrnaCoord_2=2650;refseq.mrnaCoord_3=2378;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R754G;refseq.proteinCoordStr_2=p.R754G;refseq.proteinCoordStr_3=p.R754G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.spliceDist_3=-99;refseq.start_1=207863571;refseq.start_2=207863571;refseq.start_3=207863571;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr1 207863573 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2258T>G;refseq.codingCoordStr_2=c.2258T>G;refseq.codingCoordStr_3=c.2258T>G;refseq.codonCoord_1=753;refseq.codonCoord_2=753;refseq.codonCoord_3=753;refseq.end_1=207863573;refseq.end_2=207863573;refseq.end_3=207863573;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2402;refseq.mrnaCoord_2=2648;refseq.mrnaCoord_3=2376;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V753G;refseq.proteinCoordStr_2=p.V753G;refseq.proteinCoordStr_3=p.V753G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.spliceDist_3=-101;refseq.start_1=207863573;refseq.start_2=207863573;refseq.start_3=207863573;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr1 207865876 . A G 232.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.48;MQ0=0;OQ=920.95;QD=18.42;RankSumP=0.562302;SB=-347.65;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1716T>C;refseq.codingCoordStr_2=c.1716T>C;refseq.codingCoordStr_3=c.1716T>C;refseq.codonCoord_1=572;refseq.codonCoord_2=572;refseq.codonCoord_3=572;refseq.end_1=207865876;refseq.end_2=207865876;refseq.end_3=207865876;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1860;refseq.mrnaCoord_2=2106;refseq.mrnaCoord_3=1834;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C572C;refseq.proteinCoordStr_2=p.C572C;refseq.proteinCoordStr_3=p.C572C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=119;refseq.spliceDist_2=119;refseq.spliceDist_3=119;refseq.start_1=207865876;refseq.start_2=207865876;refseq.start_3=207865876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr1 207878509 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=10.21;MQ=97.51;MQ0=0;OQ=2148.64;QD=13.95;RankSumP=0.488232;SB=-441.15;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.291A>C;refseq.codingCoordStr_2=c.291A>C;refseq.codingCoordStr_3=c.291A>C;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.codonCoord_3=97;refseq.end_1=207878509;refseq.end_2=207878509;refseq.end_3=207878509;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=435;refseq.mrnaCoord_2=681;refseq.mrnaCoord_3=409;refseq.name2_1=LAMB3;refseq.name2_2=LAMB3;refseq.name2_3=LAMB3;refseq.name_1=NM_000228;refseq.name_2=NM_001017402;refseq.name_3=NM_001127641;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S97S;refseq.proteinCoordStr_2=p.S97S;refseq.proteinCoordStr_3=p.S97S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=207878509;refseq.start_2=207878509;refseq.start_3=207878509;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr1 208017383 . C G 172.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.93;MQ0=0;OQ=6760.36;QD=46.95;RankSumP=1.00000;SB=-3142.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1057C>G;refseq.codonCoord=353;refseq.end=208017383;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_025228;refseq.name2=TRAF3IP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q353E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=64;refseq.start=208017383;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 208028593 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1199G>C;refseq.codonCoord=400;refseq.end=208028593;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1462;refseq.name=NM_006147;refseq.name2=IRF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R400P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=20;refseq.start=208028593;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr1 208035307 . C A 285.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.78;MQ0=0;OQ=19256.16;QD=39.95;RankSumP=1.00000;SB=-5648.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.459G>T;refseq.codonCoord=153;refseq.end=208035307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_006147;refseq.name2=IRF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S153S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-50;refseq.start=208035307;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr1 208070822 . C G 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=11.84;MQ=98.36;MQ0=0;OQ=10223.96;QD=49.39;RankSumP=1.00000;SB=-3591.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.199C>G;refseq.codonCoord=67;refseq.end=208070822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_014388;refseq.name2=C1orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q67E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=52;refseq.start=208070822;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 208073226 . C T 262.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.85;MQ0=0;OQ=9424.09;QD=42.07;RankSumP=1.00000;SB=-2968.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.462C>T;refseq.codonCoord=154;refseq.end=208073226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=538;refseq.name=NM_014388;refseq.name2=C1orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.P154P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=74;refseq.start=208073226;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 208082552 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1670T>G;refseq.codonCoord=557;refseq.end=208082552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_014388;refseq.name2=C1orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.V557G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=208082552;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 208400704 . T C 209.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.11;MQ0=0;OQ=1955.33;QD=17.78;RankSumP=0.405497;SB=-236.59;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_3=c.1554T>C;refseq.codingCoordStr_4=c.1419T>C;refseq.codingCoordStr_5=c.1497T>C;refseq.codingCoordStr_6=c.1362T>C;refseq.codonCoord_3=518;refseq.codonCoord_4=473;refseq.codonCoord_5=499;refseq.codonCoord_6=454;refseq.end_1=208400704;refseq.end_2=208400704;refseq.end_3=208400704;refseq.end_4=208400704;refseq.end_5=208400704;refseq.end_6=208400704;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1639;refseq.mrnaCoord_2=1368;refseq.mrnaCoord_3=1612;refseq.mrnaCoord_4=1491;refseq.mrnaCoord_5=1555;refseq.mrnaCoord_6=1434;refseq.name2_1=SYT14;refseq.name2_2=SYT14;refseq.name2_3=SYT14;refseq.name2_4=SYT14;refseq.name2_5=SYT14;refseq.name2_6=SYT14;refseq.name_1=NR_027458;refseq.name_2=NR_027459;refseq.name_3=NM_001146261;refseq.name_4=NM_001146262;refseq.name_5=NM_001146264;refseq.name_6=NM_153262;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.Y518Y;refseq.proteinCoordStr_4=p.Y473Y;refseq.proteinCoordStr_5=p.Y499Y;refseq.proteinCoordStr_6=p.Y454Y;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.referenceCodon_6=TAT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceDist_4=8;refseq.spliceDist_5=8;refseq.spliceDist_6=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.spliceInfo_4=splice-acceptor_8;refseq.spliceInfo_5=splice-acceptor_8;refseq.spliceInfo_6=splice-acceptor_8;refseq.start_1=208400704;refseq.start_2=208400704;refseq.start_3=208400704;refseq.start_4=208400704;refseq.start_5=208400704;refseq.start_6=208400704;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;refseq.variantCodon_6=TAC;set=Intersection GT 1/0 chr1 208627490 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.215T>G;refseq.codingCoordStr_2=c.215T>G;refseq.codingCoordStr_3=c.215T>G;refseq.codingCoordStr_4=c.218T>G;refseq.codingCoordStr_5=c.215T>G;refseq.codingCoordStr_6=c.215T>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=73;refseq.codonCoord_5=72;refseq.codonCoord_6=72;refseq.end_1=208627490;refseq.end_2=208627490;refseq.end_3=208627490;refseq.end_4=208627490;refseq.end_5=208627490;refseq.end_6=208627490;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=391;refseq.mrnaCoord_2=391;refseq.mrnaCoord_3=446;refseq.mrnaCoord_4=323;refseq.mrnaCoord_5=457;refseq.mrnaCoord_6=457;refseq.name2_1=HHAT;refseq.name2_2=HHAT;refseq.name2_3=HHAT;refseq.name2_4=HHAT;refseq.name2_5=HHAT;refseq.name2_6=HHAT;refseq.name_1=NM_001122834;refseq.name_2=NM_001170564;refseq.name_3=NM_001170580;refseq.name_4=NM_001170587;refseq.name_5=NM_001170588;refseq.name_6=NM_018194;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V72G;refseq.proteinCoordStr_2=p.V72G;refseq.proteinCoordStr_3=p.V72G;refseq.proteinCoordStr_4=p.V73G;refseq.proteinCoordStr_5=p.V72G;refseq.proteinCoordStr_6=p.V72G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.spliceDist_4=56;refseq.spliceDist_5=56;refseq.spliceDist_6=56;refseq.start_1=208627490;refseq.start_2=208627490;refseq.start_3=208627490;refseq.start_4=208627490;refseq.start_5=208627490;refseq.start_6=208627490;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr1 208627492 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_1=c.217T>G;refseq.codingCoordStr_2=c.217T>G;refseq.codingCoordStr_3=c.217T>G;refseq.codingCoordStr_4=c.220T>G;refseq.codingCoordStr_5=c.217T>G;refseq.codingCoordStr_6=c.217T>G;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.codonCoord_3=73;refseq.codonCoord_4=74;refseq.codonCoord_5=73;refseq.codonCoord_6=73;refseq.end_1=208627492;refseq.end_2=208627492;refseq.end_3=208627492;refseq.end_4=208627492;refseq.end_5=208627492;refseq.end_6=208627492;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=393;refseq.mrnaCoord_3=448;refseq.mrnaCoord_4=325;refseq.mrnaCoord_5=459;refseq.mrnaCoord_6=459;refseq.name2_1=HHAT;refseq.name2_2=HHAT;refseq.name2_3=HHAT;refseq.name2_4=HHAT;refseq.name2_5=HHAT;refseq.name2_6=HHAT;refseq.name_1=NM_001122834;refseq.name_2=NM_001170564;refseq.name_3=NM_001170580;refseq.name_4=NM_001170587;refseq.name_5=NM_001170588;refseq.name_6=NM_018194;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.W73G;refseq.proteinCoordStr_2=p.W73G;refseq.proteinCoordStr_3=p.W73G;refseq.proteinCoordStr_4=p.W74G;refseq.proteinCoordStr_5=p.W73G;refseq.proteinCoordStr_6=p.W73G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceAA_5=Trp;refseq.referenceAA_6=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.referenceCodon_5=TGG;refseq.referenceCodon_6=TGG;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.spliceDist_5=-57;refseq.spliceDist_6=-57;refseq.start_1=208627492;refseq.start_2=208627492;refseq.start_3=208627492;refseq.start_4=208627492;refseq.start_5=208627492;refseq.start_6=208627492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr1 208644454 . C T 109.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.36;MQ0=0;OQ=1906.27;QD=14.33;RankSumP=0.496684;SB=-571.37;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_2=c.492C>T;refseq.codingCoordStr_3=c.492C>T;refseq.codingCoordStr_4=c.495C>T;refseq.codingCoordStr_5=c.297C>T;refseq.codingCoordStr_6=c.492C>T;refseq.codonCoord_2=164;refseq.codonCoord_3=164;refseq.codonCoord_4=165;refseq.codonCoord_5=99;refseq.codonCoord_6=164;refseq.end_1=208658110;refseq.end_2=208644454;refseq.end_3=208644454;refseq.end_4=208644454;refseq.end_5=208644454;refseq.end_6=208644454;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=668;refseq.mrnaCoord_3=723;refseq.mrnaCoord_4=600;refseq.mrnaCoord_5=539;refseq.mrnaCoord_6=734;refseq.name2_1=HHAT;refseq.name2_2=HHAT;refseq.name2_3=HHAT;refseq.name2_4=HHAT;refseq.name2_5=HHAT;refseq.name2_6=HHAT;refseq.name_1=NM_001170564;refseq.name_2=NM_001122834;refseq.name_3=NM_001170580;refseq.name_4=NM_001170587;refseq.name_5=NM_001170588;refseq.name_6=NM_018194;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.N164N;refseq.proteinCoordStr_3=p.N164N;refseq.proteinCoordStr_4=p.N165N;refseq.proteinCoordStr_5=p.N99N;refseq.proteinCoordStr_6=p.N164N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.spliceDist_6=24;refseq.start_1=208627559;refseq.start_2=208644454;refseq.start_3=208644454;refseq.start_4=208644454;refseq.start_5=208644454;refseq.start_6=208644454;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;refseq.variantCodon_6=AAT;set=Intersection GT 0/1 chr1 208644496 . G C 326.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=98.47;MQ0=0;OQ=7266.23;QD=42.49;RankSumP=1.00000;SB=-2900.42;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_2=c.534G>C;refseq.codingCoordStr_3=c.534G>C;refseq.codingCoordStr_4=c.537G>C;refseq.codingCoordStr_5=c.339G>C;refseq.codingCoordStr_6=c.534G>C;refseq.codonCoord_2=178;refseq.codonCoord_3=178;refseq.codonCoord_4=179;refseq.codonCoord_5=113;refseq.codonCoord_6=178;refseq.end_1=208658110;refseq.end_2=208644496;refseq.end_3=208644496;refseq.end_4=208644496;refseq.end_5=208644496;refseq.end_6=208644496;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=765;refseq.mrnaCoord_4=642;refseq.mrnaCoord_5=581;refseq.mrnaCoord_6=776;refseq.name2_1=HHAT;refseq.name2_2=HHAT;refseq.name2_3=HHAT;refseq.name2_4=HHAT;refseq.name2_5=HHAT;refseq.name2_6=HHAT;refseq.name_1=NM_001170564;refseq.name_2=NM_001122834;refseq.name_3=NM_001170580;refseq.name_4=NM_001170587;refseq.name_5=NM_001170588;refseq.name_6=NM_018194;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.L178L;refseq.proteinCoordStr_3=p.L178L;refseq.proteinCoordStr_4=p.L179L;refseq.proteinCoordStr_5=p.L113L;refseq.proteinCoordStr_6=p.L178L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.spliceDist_4=66;refseq.spliceDist_5=66;refseq.spliceDist_6=66;refseq.start_1=208627559;refseq.start_2=208644496;refseq.start_3=208644496;refseq.start_4=208644496;refseq.start_5=208644496;refseq.start_6=208644496;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_5=CTC;refseq.variantCodon_6=CTC;set=Intersection GT 1/1 chr1 208644524 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.72;MQ0=0;OQ=2034.30;QD=12.71;RankSumP=0.297336;SB=-999.62;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.codingCoordStr_2=c.562T>C;refseq.codingCoordStr_3=c.562T>C;refseq.codingCoordStr_4=c.565T>C;refseq.codingCoordStr_5=c.367T>C;refseq.codingCoordStr_6=c.562T>C;refseq.codonCoord_2=188;refseq.codonCoord_3=188;refseq.codonCoord_4=189;refseq.codonCoord_5=123;refseq.codonCoord_6=188;refseq.end_1=208658110;refseq.end_2=208644524;refseq.end_3=208644524;refseq.end_4=208644524;refseq.end_5=208644524;refseq.end_6=208644524;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=738;refseq.mrnaCoord_3=793;refseq.mrnaCoord_4=670;refseq.mrnaCoord_5=609;refseq.mrnaCoord_6=804;refseq.name2_1=HHAT;refseq.name2_2=HHAT;refseq.name2_3=HHAT;refseq.name2_4=HHAT;refseq.name2_5=HHAT;refseq.name2_6=HHAT;refseq.name_1=NM_001170564;refseq.name_2=NM_001122834;refseq.name_3=NM_001170580;refseq.name_4=NM_001170587;refseq.name_5=NM_001170588;refseq.name_6=NM_018194;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.C188R;refseq.proteinCoordStr_3=p.C188R;refseq.proteinCoordStr_4=p.C189R;refseq.proteinCoordStr_5=p.C123R;refseq.proteinCoordStr_6=p.C188R;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceAA_6=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.referenceCodon_6=TGC;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.spliceDist_4=94;refseq.spliceDist_5=94;refseq.spliceDist_6=94;refseq.start_1=208627559;refseq.start_2=208644524;refseq.start_3=208644524;refseq.start_4=208644524;refseq.start_5=208644524;refseq.start_6=208644524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;refseq.variantCodon_6=CGC;set=Intersection GT 1/0 chr1 208923884 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=42;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=98.59;MQ0=0;OQ=535.17;QD=12.74;RankSumP=0.603669;SB=-290.80;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2251G>A;refseq.codingCoordStr_2=c.2332G>A;refseq.codonCoord_1=751;refseq.codonCoord_2=778;refseq.end_1=208923884;refseq.end_2=208923884;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2421;refseq.mrnaCoord_2=2502;refseq.name2_1=KCNH1;refseq.name2_2=KCNH1;refseq.name_1=NM_002238;refseq.name_2=NM_172362;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A751T;refseq.proteinCoordStr_2=p.A778T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=220;refseq.spliceDist_2=220;refseq.start_1=208923884;refseq.start_2=208923884;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr1 209612296 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=4.71105e-09;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1303A>C;refseq.codingCoordStr_2=c.1303A>C;refseq.codingCoordStr_3=c.1303A>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.codonCoord_3=435;refseq.end_1=209612296;refseq.end_2=209612296;refseq.end_3=209612296;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1388;refseq.mrnaCoord_2=1363;refseq.mrnaCoord_3=1363;refseq.name2_1=TRAF5;refseq.name2_2=TRAF5;refseq.name2_3=TRAF5;refseq.name_1=NM_001033910;refseq.name_2=NM_004619;refseq.name_3=NM_145759;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T435P;refseq.proteinCoordStr_2=p.T435P;refseq.proteinCoordStr_3=p.T435P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=204;refseq.spliceDist_2=204;refseq.spliceDist_3=204;refseq.start_1=209612296;refseq.start_2=209612296;refseq.start_3=209612296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr1 209612313 . C A 19 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=118;Dels=0.00;HRun=1;HaplotypeScore=25.54;MQ=97.61;MQ0=0;OQ=129.87;QD=1.10;RankSumP=8.68793e-09;SB=101.32;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1320C>A;refseq.codingCoordStr_2=c.1320C>A;refseq.codingCoordStr_3=c.1320C>A;refseq.codonCoord_1=440;refseq.codonCoord_2=440;refseq.codonCoord_3=440;refseq.end_1=209612313;refseq.end_2=209612313;refseq.end_3=209612313;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1405;refseq.mrnaCoord_2=1380;refseq.mrnaCoord_3=1380;refseq.name2_1=TRAF5;refseq.name2_2=TRAF5;refseq.name2_3=TRAF5;refseq.name_1=NM_001033910;refseq.name_2=NM_004619;refseq.name_3=NM_145759;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y440*;refseq.proteinCoordStr_2=p.Y440*;refseq.proteinCoordStr_3=p.Y440*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=221;refseq.spliceDist_2=221;refseq.spliceDist_3=221;refseq.start_1=209612313;refseq.start_2=209612313;refseq.start_3=209612313;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr1 209913499 . A G 341.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=12.47;MQ=96.52;MQ0=2;OQ=7264.38;QD=18.92;RankSumP=0.389627;SB=-2456.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.504T>C;refseq.codonCoord=168;refseq.end=209913499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_002497;refseq.name2=NEK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H168H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-52;refseq.start=209913499;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr1 210181837 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2841G>C;refseq.codonCoord=947;refseq.end=210181837;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2946;refseq.name=NM_015434;refseq.name2=INTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q947H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=240;refseq.start=210181837;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr1 210340229 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.86;MQ0=0;OQ=3885.39;QD=18.50;RankSumP=0.116370;SB=-513.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1274G>A;refseq.codonCoord=425;refseq.end=210340229;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1588;refseq.name=NM_016448;refseq.name2=DTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S425N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=13;refseq.start=210340229;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 210340262 . C T 214.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=98.83;MQ0=0;OQ=11246.23;QD=37.74;RankSumP=1.00000;SB=-4310.92;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1307C>T;refseq.codonCoord=436;refseq.end=210340262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_016448;refseq.name2=DTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A436V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=46;refseq.start=210340262;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 210341036 . A C 389.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4751.06;QD=40.61;RankSumP=1.00000;SB=-869.42;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2081A>C;refseq.codonCoord=694;refseq.end=210341036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2395;refseq.name=NM_016448;refseq.name2=DTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K694T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-14;refseq.start=210341036;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr1 210592911 . C T 269.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=15.60;MQ=98.85;MQ0=0;OQ=11291.71;QD=21.07;RankSumP=0.400748;SB=-2296.61;SecondBestBaseQ=33;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.end_1=210596580;refseq.end_2=210592911;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=129;refseq.name2_1=PPP2R5A;refseq.name2_2=SNORA16B;refseq.name_1=NM_006243;refseq.name_2=NR_004389;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=210589218;refseq.start_2=210592911;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr1 210626950 . A G 49.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=8.25;MQ=98.51;MQ0=0;OQ=4018.06;QD=24.65;RankSumP=1.00000;SB=-902.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.249T>C;refseq.codonCoord=83;refseq.end=210626950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_018252;refseq.name2=TMEM206;refseq.positionType=CDS;refseq.proteinCoordStr=p.F83F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-95;refseq.start=210626950;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 210865600 . A G 135.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.32;MQ0=0;OQ=432.71;QD=14.92;RankSumP=0.709304;SB=-206.93;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.758A>G;refseq.codonCoord=253;refseq.end=210865600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_153606;refseq.name2=FAM71A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N253S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1144;refseq.start=210865600;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 210866493 . A G 252.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=98.51;MQ0=0;OQ=4298.84;QD=38.38;RankSumP=1.00000;SB=-474.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1651A>G;refseq.codonCoord=551;refseq.end=210866493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2082;refseq.name=NM_153606;refseq.name2=FAM71A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N551D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-251;refseq.start=210866493;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 210866572 . C T 288.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=15.18;MQ=98.81;MQ0=0;OQ=6701.28;QD=17.41;RankSumP=0.172700;SB=-2375.08;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1730C>T;refseq.codonCoord=577;refseq.end=210866572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_153606;refseq.name2=FAM71A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T577M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-172;refseq.start=210866572;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 210978459 . T C 300.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=98.96;MQ0=0;OQ=8779.74;QD=20.00;RankSumP=0.341858;SB=-2789.67;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*203A>G;refseq.codingCoordStr_2=c.760A>G;refseq.codonCoord_2=254;refseq.end_1=210978459;refseq.end_2=210978459;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=879;refseq.mrnaCoord_2=794;refseq.name2_1=NSL1;refseq.name2_2=NSL1;refseq.name_1=NM_001042549;refseq.name_2=NM_015471;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M254V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=193;refseq.spliceDist_2=193;refseq.start_1=210978459;refseq.start_2=210978459;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr1 211076092 . A G 296.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.95;MQ0=0;OQ=8591.72;QD=20.12;RankSumP=0.240007;SB=-3358.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.23T>C;refseq.codonCoord=8;refseq.end=211076092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=131;refseq.name=NM_001024601;refseq.name2=C1orf227;refseq.positionType=CDS;refseq.proteinCoordStr=p.I8T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=61;refseq.start=211076092;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr1 211125343 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1178A>G;refseq.codonCoord=393;refseq.end=211125343;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_014053;refseq.name2=FLVCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D393G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-19;refseq.start=211125343;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 212558909 . G A 199.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=417;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=98.95;MQ0=0;OQ=17868.09;QD=42.85;RankSumP=1.00000;SB=-6268.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.494G>A;refseq.codonCoord=165;refseq.end=212558909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_020197;refseq.name2=SMYD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G165E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-41;refseq.start=212558909;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 212624175 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1646G>C;refseq.codonCoord=549;refseq.end=212624175;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1917;refseq.name=NM_005401;refseq.name2=PTPN14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G549A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=580;refseq.start=212624175;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 212853753 . G A 267.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.77;MQ0=0;OQ=2501.80;QD=20.18;RankSumP=0.0763390;SB=-938.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.33G>A;refseq.codonCoord=11;refseq.end=212853753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.G11G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=74;refseq.start=212853753;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 212881194 . C T 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=474.15;QD=13.17;RankSumP=0.198031;SB=-167.13;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2890C>T;refseq.codonCoord=964;refseq.end=212881194;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3064;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.L964L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=1308;refseq.start=212881194;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr1 212886722 . A G 135.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.59;MQ0=0;OQ=427.16;QD=14.73;RankSumP=0.720028;SB=-182.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7186A>G;refseq.codonCoord=2396;refseq.end=212886722;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7360;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2396D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-645;refseq.start=212886722;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 212892819 . G A 182.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=98.64;MQ0=0;OQ=1711.41;QD=16.46;RankSumP=0.210479;SB=-721.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8186G>A;refseq.codonCoord=2729;refseq.end=212892819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8360;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2729Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=26;refseq.start=212892819;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 212897215 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=159;Dels=0.00;HRun=1;HaplotypeScore=4.18;MQ=98.99;MQ0=0;OQ=2735.46;QD=17.20;RankSumP=0.246745;SB=-1378.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.8802A>G;refseq.codonCoord=2934;refseq.end=212897215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8976;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2934R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-161;refseq.start=212897215;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr1 212897240 . A G 189.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.99;MQ0=0;OQ=2429.78;QD=17.74;RankSumP=0.144086;SB=-1201.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8827A>G;refseq.codonCoord=2943;refseq.end=212897240;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9001;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2943G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-136;refseq.start=212897240;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr1 212903733 . C G 113.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=2.60;MQ=98.56;MQ0=0;OQ=2594.33;QD=16.74;RankSumP=0.251201;SB=-1295.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.9318C>G;refseq.codonCoord=3106;refseq.end=212903733;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9492;refseq.name=NM_016343;refseq.name2=CENPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3106K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=177;refseq.start=212903733;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 213860457 . G A 293.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=98.85;MQ0=0;OQ=7246.91;QD=22.65;RankSumP=0.353655;SB=-2925.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2322G>A;refseq.codonCoord=774;refseq.end=213860457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2616;refseq.name=NM_016121;refseq.name2=KCTD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A774A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=436;refseq.start=213860457;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 213910996 . C T 175.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.92;MQ0=0;OQ=8561.63;QD=19.55;RankSumP=0.303602;SB=-3548.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.14074G>A;refseq.codonCoord=4692;refseq.end=213910996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14461;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4692R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-60;refseq.start=213910996;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr1 213915210 . T C 240.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=15.33;MQ=98.67;MQ0=0;OQ=4162.91;QD=16.07;RankSumP=0.333314;SB=-1591.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.12666A>G;refseq.codonCoord=4222;refseq.end=213915210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13053;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4222T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=372;refseq.start=213915210;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 213915264 . T C 265.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=11.74;MQ=98.90;MQ0=0;OQ=12700.41;QD=38.84;RankSumP=1.00000;SB=-5142.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.12612A>G;refseq.codonCoord=4204;refseq.end=213915264;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12999;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4204T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=318;refseq.start=213915264;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 213981449 . T C 226.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.91;MQ0=0;OQ=4087.46;QD=18.84;RankSumP=0.455642;SB=-1246.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11602A>G;refseq.codonCoord=3868;refseq.end=213981449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11989;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M3868V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=54;refseq.start=213981449;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 213983186 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=417;Dels=0.00;HRun=1;HaplotypeScore=12.14;MQ=98.91;MQ0=0;OQ=7779.77;QD=18.66;RankSumP=0.322961;SB=-3186.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11504C>T;refseq.codonCoord=3835;refseq.end=213983186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11891;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3835I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-45;refseq.start=213983186;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr1 214026761 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10261A>C;refseq.codonCoord=3421;refseq.end=214026761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10648;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3421P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=79;refseq.start=214026761;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 214026774 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=1.93738e-07;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10248T>G;refseq.codonCoord=3416;refseq.end=214026774;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10635;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C3416W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=66;refseq.start=214026774;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 214026776 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=161;Dels=0.00;HRun=2;HaplotypeScore=26.08;MQ=95.57;MQ0=0;OQ=106.70;QD=0.66;RankSumP=0.430670;SB=98.27;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10246T>G;refseq.codonCoord=3416;refseq.end=214026776;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10633;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C3416G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=64;refseq.start=214026776;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 0/1 chr1 214026790 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=96.47;MQ0=0;OQ=1687.10;QD=10.22;RankSumP=0.108375;SB=-572.73;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.10232A>C;refseq.codonCoord=3411;refseq.end=214026790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10619;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3411A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=50;refseq.start=214026790;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 214210616 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0869557;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6931G>A;refseq.codonCoord=2311;refseq.end=214210616;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7318;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2311T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-27;refseq.start=214210616;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr1 214239003 . A G 297.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.83;MQ0=0;OQ=3155.25;QD=16.26;RankSumP=0.279655;SB=-1536.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6506T>C;refseq.codonCoord=2169;refseq.end=214239003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6893;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2169T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=21;refseq.start=214239003;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 214286404 . A G 278.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.94;MQ0=0;OQ=5884.07;QD=22.90;RankSumP=0.351848;SB=-1758.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6317T>C;refseq.codonCoord=2106;refseq.end=214286404;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6704;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2106T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=214286404;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 214318143 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5483A>C;refseq.codonCoord=1828;refseq.end=214318143;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5870;refseq.name=NM_206933;refseq.name2=USH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1828A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-90;refseq.start=214318143;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 214415387 . C T 303.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.90;MQ0=0;OQ=8069.97;QD=43.62;RankSumP=1.00000;SB=-3957.71;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4457G>A;refseq.codingCoordStr_2=c.4457G>A;refseq.codonCoord_1=1486;refseq.codonCoord_2=1486;refseq.end_1=214415387;refseq.end_2=214415387;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4844;refseq.mrnaCoord_2=4844;refseq.name2_1=USH2A;refseq.name2_2=USH2A;refseq.name_1=NM_007123;refseq.name_2=NM_206933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1486K;refseq.proteinCoordStr_2=p.R1486K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=214415387;refseq.start_2=214415387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr1 214438323 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4038A>G;refseq.codingCoordStr_2=c.4038A>G;refseq.codonCoord_1=1346;refseq.codonCoord_2=1346;refseq.end_1=214438323;refseq.end_2=214438323;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4425;refseq.mrnaCoord_2=4425;refseq.name2_1=USH2A;refseq.name2_2=USH2A;refseq.name_1=NM_007123;refseq.name_2=NM_206933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1346G;refseq.proteinCoordStr_2=p.G1346G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=214438323;refseq.start_2=214438323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 214658626 . T C 79.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.82;MQ0=0;OQ=14152.37;QD=38.56;RankSumP=1.00000;SB=-6530.96;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.504A>G;refseq.codingCoordStr_2=c.504A>G;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.end_1=214658626;refseq.end_2=214658626;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=891;refseq.mrnaCoord_2=891;refseq.name2_1=USH2A;refseq.name2_2=USH2A;refseq.name_1=NM_007123;refseq.name_2=NM_206933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T168T;refseq.proteinCoordStr_2=p.T168T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=214658626;refseq.start_2=214658626;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr1 214661929 . C T 309.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.40;MQ0=0;OQ=7911.92;QD=40.99;RankSumP=1.00000;SB=-3956.81;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.373G>A;refseq.codingCoordStr_2=c.373G>A;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.end_1=214661929;refseq.end_2=214661929;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=760;refseq.mrnaCoord_2=760;refseq.name2_1=USH2A;refseq.name2_2=USH2A;refseq.name_1=NM_007123;refseq.name_2=NM_206933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A125T;refseq.proteinCoordStr_2=p.A125T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-113;refseq.spliceDist_2=-113;refseq.start_1=214661929;refseq.start_2=214661929;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr1 214759292 . C T 341.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=99.00;MQ0=0;OQ=2733.40;QD=19.52;RankSumP=0.451323;SB=-1314.78;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_2=c.888G>A;refseq.codingCoordStr_3=c.957G>A;refseq.codingCoordStr_4=c.888G>A;refseq.codingCoordStr_5=c.888G>A;refseq.codonCoord_2=296;refseq.codonCoord_3=319;refseq.codonCoord_4=296;refseq.codonCoord_5=296;refseq.end_1=214759292;refseq.end_2=214759292;refseq.end_3=214759292;refseq.end_4=214759292;refseq.end_5=214759292;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=1206;refseq.mrnaCoord_3=1123;refseq.mrnaCoord_4=1239;refseq.mrnaCoord_5=1121;refseq.name2_1=ESRRG;refseq.name2_2=ESRRG;refseq.name2_3=ESRRG;refseq.name2_4=ESRRG;refseq.name2_5=ESRRG;refseq.name_1=NR_024099;refseq.name_2=NM_001134285;refseq.name_3=NM_001438;refseq.name_4=NM_206594;refseq.name_5=NM_206595;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S296S;refseq.proteinCoordStr_3=p.S319S;refseq.proteinCoordStr_4=p.S296S;refseq.proteinCoordStr_5=p.S296S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.spliceDist_3=95;refseq.spliceDist_4=95;refseq.spliceDist_5=95;refseq.start_1=214759292;refseq.start_2=214759292;refseq.start_3=214759292;refseq.start_4=214759292;refseq.start_5=214759292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;refseq.variantCodon_5=TCA;set=Intersection GT 0/1 chr1 216014361 . G A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=98.63;MQ0=0;OQ=7062.82;QD=42.80;RankSumP=1.00000;SB=-2971.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.582G>A;refseq.codonCoord=194;refseq.end=216014361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_138796;refseq.name2=SPATA17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q194Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=63;refseq.start=216014361;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr1 217450528 . A G 279.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=97.35;MQ0=0;OQ=14855.58;QD=42.81;RankSumP=1.00000;SB=-5434.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.393A>G;refseq.codonCoord=131;refseq.end=217450528;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_138794;refseq.name2=LYPLAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I131M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=32;refseq.start=217450528;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 217450564 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.429A>G;refseq.codonCoord=143;refseq.end=217450564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_138794;refseq.name2=LYPLAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G143G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-49;refseq.start=217450564;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 218223316 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3138T>G;refseq.codonCoord=1046;refseq.end=218223316;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3408;refseq.name=NM_004446;refseq.name2=EPRS;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1046W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=48;refseq.start=218223316;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr1 218237213 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2276T>G;refseq.codonCoord=759;refseq.end=218237213;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2546;refseq.name=NM_004446;refseq.name2=EPRS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V759G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=95;refseq.start=218237213;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 218241120 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2164G>A;refseq.codonCoord=722;refseq.end=218241120;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2434;refseq.name=NM_004446;refseq.name2=EPRS;refseq.positionType=CDS;refseq.proteinCoordStr=p.E722K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-18;refseq.start=218241120;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 218264248 . G T 328.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.65;MQ0=0;OQ=5871.19;QD=39.67;RankSumP=1.00000;SB=-1526.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.924C>A;refseq.codonCoord=308;refseq.end=218264248;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_004446;refseq.name2=EPRS;refseq.positionType=CDS;refseq.proteinCoordStr=p.D308E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-20;refseq.start=218264248;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr1 218307289 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.452A>C;refseq.codonCoord=151;refseq.end=218307289;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_006085;refseq.name2=BPNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N151T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-23;refseq.start=218307289;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr1 218391242 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4156G>A;refseq.codonCoord=1386;refseq.end=218391242;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4320;refseq.name=NM_012414;refseq.name2=RAB3GAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1386K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=130;refseq.start=218391242;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr1 218436281 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.894A>C;refseq.codonCoord=298;refseq.end=218436281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_012414;refseq.name2=RAB3GAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P298P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-67;refseq.start=218436281;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 218872247 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1091C>A;refseq.codonCoord=364;refseq.end=218872247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1688;refseq.name=NM_018650;refseq.name2=MARK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T364N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-32;refseq.start=218872247;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr1 219003000 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.735T>G;refseq.codonCoord=245;refseq.end=219003000;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_017898;refseq.name2=MOSC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C245W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-16;refseq.start=219003000;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr1 219021862 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1004T>G;refseq.codonCoord=335;refseq.end=219021862;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_017898;refseq.name2=MOSC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V335G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-36;refseq.start=219021862;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 219031457 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.277T>G;refseq.codonCoord=93;refseq.end=219031457;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_022746;refseq.name2=MOSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F93V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=219031457;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr1 219036651 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=98.86;MQ0=0;OQ=1898.89;QD=11.17;RankSumP=0.0500497;SB=-871.03;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.493A>G;refseq.codonCoord=165;refseq.end=219036651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_022746;refseq.name2=MOSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T165A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=44;refseq.start=219036651;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 219120168 . T C 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=11.95;MQ=92.61;MQ0=0;OQ=184.15;QD=4.38;RankSumP=0.532149;SB=-64.31;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.346T>C;refseq.codonCoord=116;refseq.end=219120168;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_021958;refseq.name2=HLX;refseq.positionType=CDS;refseq.proteinCoordStr=p.S116P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-247;refseq.start=219120168;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr1 219122130 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.774T>G;refseq.codonCoord=258;refseq.end=219122130;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1231;refseq.name=NM_021958;refseq.name2=HLX;refseq.positionType=CDS;refseq.proteinCoordStr=p.G258G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=219122130;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 219124269 . C T 101.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=97.24;MQ0=0;OQ=995.68;QD=12.00;RankSumP=0.161463;SB=-490.05;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1067C>T;refseq.codonCoord=356;refseq.end=219124269;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_021958;refseq.name2=HLX;refseq.positionType=CDS;refseq.proteinCoordStr=p.P356L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=110;refseq.start=219124269;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 219124285 . G A 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=6.67;MQ=97.32;MQ0=0;OQ=590.37;QD=7.29;RankSumP=0.00505112;SB=-305.83;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1083G>A;refseq.codonCoord=361;refseq.end=219124285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_021958;refseq.name2=HLX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E361E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=126;refseq.start=219124285;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/0 chr1 219978965 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.745T>C;refseq.codonCoord_2=249;refseq.end_1=219981935;refseq.end_2=219978965;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=927;refseq.name2_1=DUSP10;refseq.name2_2=DUSP10;refseq.name_1=NM_144729;refseq.name_2=NM_007207;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S249P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-67;refseq.start_1=219946442;refseq.start_2=219978965;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 219978984 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=675;Dels=0.00;HRun=0;HaplotypeScore=43.37;MQ=98.13;MQ0=0;OQ=9845.21;QD=14.59;RankSumP=0.0233296;SB=-228.91;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.726A>G;refseq.codonCoord_2=242;refseq.end_1=219981935;refseq.end_2=219978984;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=908;refseq.name2_1=DUSP10;refseq.name2_2=DUSP10;refseq.name_1=NM_144729;refseq.name_2=NM_007207;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E242E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-86;refseq.start_1=219946442;refseq.start_2=219978984;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr1 219979431 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=26.58;MQ=98.29;MQ0=0;OQ=1696.94;QD=7.82;RankSumP=0.273859;SB=-427.09;SecondBestBaseQ=19;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.279A>G;refseq.codonCoord_2=93;refseq.end_1=219981935;refseq.end_2=219979431;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=461;refseq.name2_1=DUSP10;refseq.name2_2=DUSP10;refseq.name_1=NM_144729;refseq.name_2=NM_007207;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q93Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=322;refseq.start_1=219946442;refseq.start_2=219979431;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr1 220780126 . C G 147.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.91;MQ0=0;OQ=4850.84;QD=21.09;RankSumP=0.00920360;SB=-1752.01;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1299G>C;refseq.codonCoord=433;refseq.end=220780126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1357;refseq.name=NM_024746;refseq.name2=HHIPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T433T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-152;refseq.start=220780126;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr1 220780254 . G C 191.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=98.83;MQ0=0;OQ=2640.75;QD=16.50;RankSumP=0.127491;SB=-791.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1171C>G;refseq.codonCoord=391;refseq.end=220780254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1229;refseq.name=NM_024746;refseq.name2=HHIPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H391D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=53;refseq.start=220780254;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr1 220787911 . C T 341.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=1990.24;QD=36.86;RankSumP=1.00000;SB=-590.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.99G>A;refseq.codonCoord=33;refseq.end=220787911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_024746;refseq.name2=HHIPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L33L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=157;refseq.start=220787911;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr1 220801345 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1224T>G;refseq.codingCoordStr_2=c.882T>G;refseq.codonCoord_1=408;refseq.codonCoord_2=294;refseq.end_1=220801345;refseq.end_2=220801345;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1413;refseq.mrnaCoord_2=1243;refseq.name2_1=TAF1A;refseq.name2_2=TAF1A;refseq.name_1=NM_005681;refseq.name_2=NM_139352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G408G;refseq.proteinCoordStr_2=p.G294G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=220801345;refseq.start_2=220801345;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 220801426 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=2;HaplotypeScore=5.16;MQ=98.83;MQ0=0;OQ=3215.74;QD=18.07;RankSumP=0.256439;SB=-1224.41;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1143C>G;refseq.codingCoordStr_2=c.801C>G;refseq.codonCoord_1=381;refseq.codonCoord_2=267;refseq.end_1=220801426;refseq.end_2=220801426;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1332;refseq.mrnaCoord_2=1162;refseq.name2_1=TAF1A;refseq.name2_2=TAF1A;refseq.name_1=NM_005681;refseq.name_2=NM_139352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G381G;refseq.proteinCoordStr_2=p.G267G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=220801426;refseq.start_2=220801426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr1 220868629 . A G 262.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1048.23;QD=40.32;RankSumP=1.00000;SB=-537.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1444A>G;refseq.codonCoord=482;refseq.end=220868629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1453;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K482E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1090;refseq.start=220868629;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 220869426 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=3;HaplotypeScore=1.03;MQ=99.00;MQ0=0;OQ=5423.59;QD=35.45;RankSumP=1.00000;SB=-1710.84;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2241T>G;refseq.codonCoord=747;refseq.end=220869426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2250;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P747P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-929;refseq.start=220869426;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr1 220869549 . C T 297.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.96;MQ0=0;OQ=8063.73;QD=40.73;RankSumP=1.00000;SB=-3625.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2364C>T;refseq.codonCoord=788;refseq.end=220869549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2373;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S788S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-806;refseq.start=220869549;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 220900161 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=2;HaplotypeScore=5.81;MQ=98.82;MQ0=0;OQ=7517.44;QD=23.06;RankSumP=0.485058;SB=-2485.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4995C>G;refseq.codonCoord=1665;refseq.end=220900161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5004;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1665G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=20;refseq.start=220900161;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr1 220900224 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=2;HaplotypeScore=6.27;MQ=98.78;MQ0=0;OQ=9409.82;QD=37.19;RankSumP=1.00000;SB=-4624.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5058T>C;refseq.codonCoord=1686;refseq.end=220900224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5067;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1686P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-56;refseq.start=220900224;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 220905340 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5480A>C;refseq.codonCoord=1827;refseq.end=220905340;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5489;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1827A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=67;refseq.start=220905340;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr1 220905527 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5667A>C;refseq.codonCoord=1889;refseq.end=220905527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5676;refseq.name=NM_198551;refseq.name2=MIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1889P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=254;refseq.start=220905527;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 220962471 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.393A>G;refseq.codonCoord=131;refseq.end=220962471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_144695;refseq.name2=C1orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.G131G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=220962471;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 220986518 . T G 458.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.70;MQ0=0;OQ=6793.40;QD=39.73;RankSumP=1.00000;SB=-1824.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8T>G;refseq.codonCoord=3;refseq.end=220986518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_207468;refseq.name2=FAM177B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I3S;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=23;refseq.start=220986518;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr1 220989974 . A G 353.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=98.76;MQ0=0;OQ=8815.23;QD=35.69;RankSumP=1.00000;SB=-2810.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.428A>G;refseq.codonCoord=143;refseq.end=220989974;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_207468;refseq.name2=FAM177B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q143R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=89;refseq.start=220989974;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr1 221245184 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=659;Dels=0.00;HRun=3;HaplotypeScore=15.16;MQ=98.79;MQ0=0;OQ=24217.73;QD=36.75;RankSumP=1.00000;SB=-11513.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3822A>C;refseq.codonCoord=1274;refseq.end=221245184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3969;refseq.name=NM_032890;refseq.name2=DISP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1274P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-775;refseq.start=221245184;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chr1 221350533 . A G 318.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.87;MQ0=0;OQ=7314.69;QD=41.80;RankSumP=1.00000;SB=-3387.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2464T>C;refseq.codonCoord=822;refseq.end=221350533;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3105;refseq.name=NM_003268;refseq.name2=TLR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F822L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-1163;refseq.start=221350533;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 221351151 . A G 255.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=98.83;MQ0=0;OQ=4335.58;QD=19.62;RankSumP=0.349548;SB=-1812.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1846T>C;refseq.codonCoord=616;refseq.end=221351151;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2487;refseq.name=NM_003268;refseq.name2=TLR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F616L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-1781;refseq.start=221351151;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 221469216 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.862A>C;refseq.codonCoord=288;refseq.end=221469216;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_017982;refseq.name2=SUSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T288P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=221469216;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 221634454 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.777778;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1014C>A;refseq.codonCoord=338;refseq.end=221634454;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_152610;refseq.name2=C1orf65;refseq.positionType=CDS;refseq.proteinCoordStr=p.N338K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-982;refseq.start=221634454;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr1 221967031 . C G 178.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=6.38;MQ=98.30;MQ0=0;OQ=2157.01;QD=35.95;RankSumP=1.00000;SB=-383.75;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.66C>G;refseq.codonCoord_2=22;refseq.end_1=221972076;refseq.end_2=221967031;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=290;refseq.name2_1=CAPN2;refseq.name2_2=CAPN2;refseq.name_1=NM_001146068;refseq.name_2=NM_001748;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D22E;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-172;refseq.start_1=221956167;refseq.start_2=221967031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 221972155 . G A 214.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.47;MQ0=0;OQ=1673.40;QD=15.08;RankSumP=0.378558;SB=-502.63;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.72G>A;refseq.codingCoordStr_2=c.306G>A;refseq.codonCoord_1=24;refseq.codonCoord_2=102;refseq.end_1=221972155;refseq.end_2=221972155;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=308;refseq.mrnaCoord_2=530;refseq.name2_1=CAPN2;refseq.name2_2=CAPN2;refseq.name_1=NM_001146068;refseq.name_2=NM_001748;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L24L;refseq.proteinCoordStr_2=p.L102L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=221972155;refseq.start_2=221972155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr1 222001343 . G A 334.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.77;MQ0=0;OQ=4366.15;QD=37.64;RankSumP=1.00000;SB=-1395.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.348G>A;refseq.codingCoordStr_2=c.582G>A;refseq.codonCoord_1=116;refseq.codonCoord_2=194;refseq.end_1=222001343;refseq.end_2=222001343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=806;refseq.name2_1=CAPN2;refseq.name2_2=CAPN2;refseq.name_1=NM_001146068;refseq.name_2=NM_001748;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A116A;refseq.proteinCoordStr_2=p.A194A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=222001343;refseq.start_2=222001343;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr1 222015937 . G C 144.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=12.09;MQ=98.86;MQ0=0;OQ=10413.72;QD=23.24;RankSumP=0.448974;SB=-3380.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1327G>C;refseq.codingCoordStr_2=c.1561G>C;refseq.codonCoord_1=443;refseq.codonCoord_2=521;refseq.end_1=222015937;refseq.end_2=222015937;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1563;refseq.mrnaCoord_2=1785;refseq.name2_1=CAPN2;refseq.name2_2=CAPN2;refseq.name_1=NM_001146068;refseq.name_2=NM_001748;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E443Q;refseq.proteinCoordStr_2=p.E521Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=222015937;refseq.start_2=222015937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr1 222020703 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=11.78;MQ=98.93;MQ0=0;OQ=5124.88;QD=18.05;RankSumP=0.408585;SB=-1871.10;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1468A>C;refseq.codingCoordStr_2=c.1702A>C;refseq.codonCoord_1=490;refseq.codonCoord_2=568;refseq.end_1=222020703;refseq.end_2=222020703;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1704;refseq.mrnaCoord_2=1926;refseq.name2_1=CAPN2;refseq.name2_2=CAPN2;refseq.name_1=NM_001146068;refseq.name_2=NM_001748;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K490Q;refseq.proteinCoordStr_2=p.K568Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=222020703;refseq.start_2=222020703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr1 222046830 . G C 247.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=13.53;MQ=98.76;MQ0=0;OQ=6294.36;QD=22.89;RankSumP=0.122208;SB=-2444.76;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2880C>G;refseq.codingCoordStr_2=c.2493C>G;refseq.codonCoord_1=960;refseq.codonCoord_2=831;refseq.end_1=222046830;refseq.end_2=222046830;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3172;refseq.mrnaCoord_2=3304;refseq.name2_1=TP53BP2;refseq.name2_2=TP53BP2;refseq.name_1=NM_001031685;refseq.name_2=NM_005426;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L960L;refseq.proteinCoordStr_2=p.L831L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=222046830;refseq.start_2=222046830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr1 222056589 . C T 238.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=98.58;MQ0=0;OQ=5898.42;QD=14.67;RankSumP=0.111794;SB=-1836.01;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1077G>A;refseq.codingCoordStr_2=c.690G>A;refseq.codonCoord_1=359;refseq.codonCoord_2=230;refseq.end_1=222056589;refseq.end_2=222056589;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1369;refseq.mrnaCoord_2=1501;refseq.name2_1=TP53BP2;refseq.name2_2=TP53BP2;refseq.name_1=NM_001031685;refseq.name_2=NM_005426;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S359S;refseq.proteinCoordStr_2=p.S230S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=222056589;refseq.start_2=222056589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr1 222522377 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2164G>C;refseq.codingCoordStr_2=c.1846G>C;refseq.codonCoord_1=722;refseq.codonCoord_2=616;refseq.end_1=222522377;refseq.end_2=222522377;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2207;refseq.mrnaCoord_2=2133;refseq.name2_1=NVL;refseq.name2_2=NVL;refseq.name_1=NM_002533;refseq.name_2=NM_206840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A722P;refseq.proteinCoordStr_2=p.A616P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=222522377;refseq.start_2=222522377;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr1 222548718 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=9.90201e-10;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1199C>G;refseq.codingCoordStr_2=c.881C>G;refseq.codonCoord_1=400;refseq.codonCoord_2=294;refseq.end_1=222548718;refseq.end_2=222548718;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1242;refseq.mrnaCoord_2=1168;refseq.name2_1=NVL;refseq.name2_2=NVL;refseq.name_1=NM_002533;refseq.name_2=NM_206840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A400G;refseq.proteinCoordStr_2=p.A294G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=222548718;refseq.start_2=222548718;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr1 222559369 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=831;Dels=0.00;HRun=0;HaplotypeScore=15.13;MQ=98.76;MQ0=0;OQ=34341.76;QD=41.33;RankSumP=1.00000;SB=-14543.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.738G>A;refseq.codingCoordStr_2=c.420G>A;refseq.codonCoord_1=246;refseq.codonCoord_2=140;refseq.end_1=222559369;refseq.end_2=222559369;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=781;refseq.mrnaCoord_2=707;refseq.name2_1=NVL;refseq.name2_2=NVL;refseq.name_1=NM_002533;refseq.name_2=NM_206840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L246L;refseq.proteinCoordStr_2=p.L140L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=222559369;refseq.start_2=222559369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr1 222562475 . C T 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=495;Dels=0.00;HRun=1;HaplotypeScore=20.95;MQ=98.79;MQ0=0;OQ=21125.57;QD=42.68;RankSumP=1.00000;SB=-7876.97;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.456G>A;refseq.codingCoordStr_2=c.138G>A;refseq.codonCoord_1=152;refseq.codonCoord_2=46;refseq.end_1=222562475;refseq.end_2=222562475;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=499;refseq.mrnaCoord_2=425;refseq.name2_1=NVL;refseq.name2_2=NVL;refseq.name_1=NM_002533;refseq.name_2=NM_206840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R152R;refseq.proteinCoordStr_2=p.R46R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=222562475;refseq.start_2=222562475;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr1 222672678 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.878T>G;refseq.codingCoordStr_2=c.926T>G;refseq.codonCoord_1=293;refseq.codonCoord_2=309;refseq.end_1=222672678;refseq.end_2=222672678;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1072;refseq.mrnaCoord_2=1120;refseq.name2_1=WDR26;refseq.name2_2=WDR26;refseq.name_1=NM_001115113;refseq.name_2=NM_025160;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V293G;refseq.proteinCoordStr_2=p.V309G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=222672678;refseq.start_2=222672678;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 223673767 . C T 245.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=4807.17;QD=43.70;RankSumP=1.00000;SB=-1331.19;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.461G>A;refseq.codingCoordStr_2=c.461G>A;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=223673767;refseq.end_2=223673767;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=587;refseq.name2_1=LBR;refseq.name2_2=LBR;refseq.name_1=NM_002296;refseq.name_2=NM_194442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S154N;refseq.proteinCoordStr_2=p.S154N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=223673767;refseq.start_2=223673767;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr1 223676507 . A G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=297;Dels=0.00;HRun=4;HaplotypeScore=58.84;MQ=97.99;MQ0=0;OQ=7780.52;QD=26.20;RankSumP=1.00000;SB=-767.00;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.261T>C;refseq.codingCoordStr_2=c.261T>C;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=223676507;refseq.end_2=223676507;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=387;refseq.name2_1=LBR;refseq.name2_2=LBR;refseq.name_1=NM_002296;refseq.name_2=NM_194442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P87P;refseq.proteinCoordStr_2=p.P87P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=223676507;refseq.start_2=223676507;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/1 chr1 223678284 . C T 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=98.68;MQ0=0;OQ=5301.56;QD=42.08;RankSumP=1.00000;SB=-2430.74;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.117G>A;refseq.codingCoordStr_2=c.117G>A;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=223678284;refseq.end_2=223678284;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=260;refseq.mrnaCoord_2=243;refseq.name2_1=LBR;refseq.name2_2=LBR;refseq.name_1=NM_002296;refseq.name_2=NM_194442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V39V;refseq.proteinCoordStr_2=p.V39V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=223678284;refseq.start_2=223678284;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr1 224086256 . T C 326.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=11.13;MQ=98.86;MQ0=0;OQ=4447.36;QD=19.09;RankSumP=0.112400;SB=-1417.47;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.337T>C;refseq.codingCoordStr_2=c.337T>C;refseq.codonCoord_1=113;refseq.codonCoord_2=113;refseq.end_1=224086256;refseq.end_2=224086256;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=417;refseq.name2_1=EPHX1;refseq.name2_2=EPHX1;refseq.name_1=NM_000120;refseq.name_2=NM_001136018;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y113H;refseq.proteinCoordStr_2=p.Y113H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=224086256;refseq.start_2=224086256;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr1 224093029 . A G 127.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.49;MQ0=0;OQ=1531.45;QD=13.09;RankSumP=0.149119;SB=-318.54;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.416A>G;refseq.codingCoordStr_2=c.416A>G;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.end_1=224093029;refseq.end_2=224093029;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=665;refseq.mrnaCoord_2=496;refseq.name2_1=EPHX1;refseq.name2_2=EPHX1;refseq.name_1=NM_000120;refseq.name_2=NM_001136018;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H139R;refseq.proteinCoordStr_2=p.H139R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=224093029;refseq.start_2=224093029;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr1 224098852 . C T 180.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.95;MQ0=0;OQ=2611.96;QD=14.04;RankSumP=0.190704;SB=-1089.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1071C>T;refseq.codingCoordStr_2=c.1071C>T;refseq.codonCoord_1=357;refseq.codonCoord_2=357;refseq.end_1=224098852;refseq.end_2=224098852;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=1151;refseq.name2_1=EPHX1;refseq.name2_2=EPHX1;refseq.name_1=NM_000120;refseq.name_2=NM_001136018;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N357N;refseq.proteinCoordStr_2=p.N357N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=224098852;refseq.start_2=224098852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 224101532 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=761.51;QD=16.55;RankSumP=0.707399;SB=-181.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2256C>T;refseq.codonCoord=752;refseq.end=224101532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2878;refseq.name=NM_014698;refseq.name2=TMEM63A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y752Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=224101532;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr1 224116673 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.953A>G;refseq.codonCoord=318;refseq.end=224116673;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_014698;refseq.name2=TMEM63A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E318G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=224116673;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr1 224122218 . G A 116.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=2;HaplotypeScore=9.04;MQ=98.72;MQ0=0;OQ=5431.40;QD=21.64;RankSumP=0.423583;SB=-1887.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.507C>T;refseq.codonCoord=169;refseq.end=224122218;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_014698;refseq.name2=TMEM63A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D169D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=224122218;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr1 224131814 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=159;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=98.96;MQ0=0;OQ=3111.68;QD=19.57;RankSumP=0.357531;SB=-1488.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.90C>G;refseq.codonCoord=30;refseq.end=224131814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_014698;refseq.name2=TMEM63A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S30S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-97;refseq.start=224131814;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr1 224141060 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1091T>C;refseq.codonCoord=364;refseq.end=224141060;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_020997;refseq.name2=LEFTY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L364P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=354;refseq.start=224141060;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 224141186 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=78.90;MQ0=24;OQ=1392.18;QD=9.22;RankSumP=0.233237;SB=-517.73;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.965A>C;refseq.codonCoord=322;refseq.end=224141186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_020997;refseq.name2=LEFTY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D322A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=228;refseq.start=224141186;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr1 224176193 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=1.13883e-07;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.528C>G;refseq.codonCoord=176;refseq.end=224176193;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_013328;refseq.name2=PYCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S176R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-13;refseq.start=224176193;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr1 224191774 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.989T>C;refseq.codingCoordStr_2=c.1091T>C;refseq.codonCoord_1=330;refseq.codonCoord_2=364;refseq.end_1=224191774;refseq.end_2=224191774;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=1334;refseq.name2_1=LEFTY2;refseq.name2_2=LEFTY2;refseq.name_1=NM_001172425;refseq.name_2=NM_003240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L330P;refseq.proteinCoordStr_2=p.L364P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=354;refseq.spliceDist_2=354;refseq.start_1=224191774;refseq.start_2=224191774;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr1 224193839 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.00145626;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.480G>C;refseq.codingCoordStr_2=c.582G>C;refseq.codonCoord_1=160;refseq.codonCoord_2=194;refseq.end_1=224193839;refseq.end_2=224193839;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=825;refseq.name2_1=LEFTY2;refseq.name2_2=LEFTY2;refseq.name_1=NM_001172425;refseq.name_2=NM_003240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R160R;refseq.proteinCoordStr_2=p.R194R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=224193839;refseq.start_2=224193839;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT 1/0 chr1 224193895 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.424A>G;refseq.codingCoordStr_2=c.526A>G;refseq.codonCoord_1=142;refseq.codonCoord_2=176;refseq.end_1=224193895;refseq.end_2=224193895;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=667;refseq.mrnaCoord_2=769;refseq.name2_1=LEFTY2;refseq.name2_2=LEFTY2;refseq.name_1=NM_001172425;refseq.name_2=NM_003240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K142E;refseq.proteinCoordStr_2=p.K176E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=224193895;refseq.start_2=224193895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT 1/0 chr1 224246829 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.21143e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.413A>G;refseq.codonCoord=138;refseq.end=224246829;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_152608;refseq.name2=C1orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.E138G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=63;refseq.start=224246829;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 224409118 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.943T>G;refseq.codonCoord=315;refseq.end=224409118;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_022735;refseq.name2=ACBD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S315A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=40;refseq.start=224409118;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr1 224419121 . T G 288.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.38;MQ0=0;OQ=11147.98;QD=38.98;RankSumP=1.00000;SB=-4993.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.561A>C;refseq.codonCoord=187;refseq.end=224419121;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_022735;refseq.name2=ACBD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E187D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=224419121;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 224540755 . G A 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1780.05;QD=42.38;RankSumP=1.00000;SB=-629.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.474C>T;refseq.codonCoord=158;refseq.end=224540755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_173083;refseq.name2=LIN9;refseq.positionType=CDS;refseq.proteinCoordStr=p.F158F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=28;refseq.start=224540755;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr1 224621925 . A G 280.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.81;MQ0=0;OQ=9881.22;QD=37.71;RankSumP=1.00000;SB=-4620.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2285T>C;refseq.codonCoord=762;refseq.end=224621925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2456;refseq.name=NM_001618;refseq.name2=PARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V762A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=224621925;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 224635469 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=249;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.94;MQ0=0;OQ=178.84;QD=0.72;RankSumP=2.16088e-07;SB=420.37;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1223T>G;refseq.codonCoord=408;refseq.end=224635469;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_001618;refseq.name2=PARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V408G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=64;refseq.start=224635469;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 224637390 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.41;MQ0=0;OQ=691.57;QD=15.03;RankSumP=0.653273;SB=-190.71;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1129C>T;refseq.codonCoord=377;refseq.end=224637390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1300;refseq.name=NM_001618;refseq.name2=PARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P377S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-31;refseq.start=224637390;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 224639987 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=1;HaplotypeScore=29.95;MQ=98.35;MQ0=0;OQ=18913.35;QD=35.22;RankSumP=1.00000;SB=-7361.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=224639987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_001618;refseq.name2=PARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A284A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=18;refseq.start=224639987;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 224656581 . G A 295.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=339;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.79;MQ0=0;OQ=13815.10;QD=40.75;RankSumP=1.00000;SB=-6453.91;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.243C>T;refseq.codonCoord=81;refseq.end=224656581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_001618;refseq.name2=PARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D81D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-44;refseq.start=224656581;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr1 224990128 . G T 271.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=8.07;MQ=98.31;MQ0=0;OQ=2507.34;QD=15.20;RankSumP=0.0633404;SB=-1163.60;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1655C>A;refseq.codonCoord=552;refseq.end=224990128;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1995;refseq.name=NM_002221;refseq.name2=ITPKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P552Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-278;refseq.start=224990128;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 224990561 . A C 137.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=98.85;MQ0=0;OQ=2132.20;QD=13.76;RankSumP=0.0927053;SB=-304.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1222T>G;refseq.codonCoord=408;refseq.end=224990561;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1562;refseq.name=NM_002221;refseq.name2=ITPKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S408A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-711;refseq.start=224990561;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr1 224991265 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.83;MQ0=0;OQ=1094.73;QD=15.64;RankSumP=0.240044;SB=-308.20;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.518G>A;refseq.codonCoord=173;refseq.end=224991265;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_002221;refseq.name2=ITPKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R173H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=723;refseq.start=224991265;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr1 225136300 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=7.44;MQ=98.99;MQ0=0;OQ=2004.51;QD=11.93;RankSumP=0.0493831;SB=-994.97;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.69T>C;refseq.codingCoordStr_2=c.69T>C;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=225136300;refseq.end_2=225136300;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=496;refseq.mrnaCoord_2=496;refseq.name2_1=PSEN2;refseq.name2_2=PSEN2;refseq.name_1=NM_000447;refseq.name_2=NM_012486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A23A;refseq.proteinCoordStr_2=p.A23A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=225136300;refseq.start_2=225136300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr1 225136360 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.94;MQ0=0;OQ=999.36;QD=12.19;RankSumP=0.232711;SB=-241.74;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.129C>T;refseq.codingCoordStr_2=c.129C>T;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=225136360;refseq.end_2=225136360;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=556;refseq.mrnaCoord_2=556;refseq.name2_1=PSEN2;refseq.name2_2=PSEN2;refseq.name_1=NM_000447;refseq.name_2=NM_012486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N43N;refseq.proteinCoordStr_2=p.N43N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=225136360;refseq.start_2=225136360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 225138148 . C T 249.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=98.69;MQ0=0;OQ=1597.19;QD=15.81;RankSumP=0.137694;SB=-630.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.261C>T;refseq.codingCoordStr_2=c.261C>T;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=225138148;refseq.end_2=225138148;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=688;refseq.name2_1=PSEN2;refseq.name2_2=PSEN2;refseq.name_1=NM_000447;refseq.name_2=NM_012486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H87H;refseq.proteinCoordStr_2=p.H87H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-96;refseq.spliceDist_2=-96;refseq.start_1=225138148;refseq.start_2=225138148;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr1 225215826 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=96.37;MQ0=0;OQ=1033.85;QD=13.97;RankSumP=0.187290;SB=-197.83;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.117G>A;refseq.codonCoord=39;refseq.end=225215826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_020247;refseq.name2=CABC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A39A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-61;refseq.start=225215826;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 225238913 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=2;HaplotypeScore=15.67;MQ=98.95;MQ0=0;OQ=6328.14;QD=19.29;RankSumP=0.457567;SB=-2092.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1440C>T;refseq.codonCoord=480;refseq.end=225238913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_020247;refseq.name2=CABC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F480F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=42;refseq.start=225238913;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr1 225240833 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=10.83;MQ=99.00;MQ0=0;OQ=2919.71;QD=14.04;RankSumP=0.451643;SB=-144.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1716T>C;refseq.codonCoord=572;refseq.end=225240833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1888;refseq.name=NM_020247;refseq.name2=CABC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S572S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=57;refseq.start=225240833;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr1 225248656 . G A 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=98.39;MQ0=0;OQ=1358.05;QD=38.80;RankSumP=1.00000;SB=-636.37;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.5096C>T;refseq.codingCoordStr_2=c.4853C>T;refseq.codonCoord_1=1699;refseq.codonCoord_2=1618;refseq.end_1=225248656;refseq.end_2=225248656;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6039;refseq.mrnaCoord_2=5796;refseq.name2_1=CDC42BPA;refseq.name2_2=CDC42BPA;refseq.name_1=NM_003607;refseq.name_2=NM_014826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1699V;refseq.proteinCoordStr_2=p.A1618V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=225248656;refseq.start_2=225248656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr1 225249198 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=8.94;MQ=98.82;MQ0=0;OQ=12329.86;QD=31.94;RankSumP=1.00000;SB=-5800.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.4977T>C;refseq.codingCoordStr_2=c.4734T>C;refseq.codonCoord_1=1659;refseq.codonCoord_2=1578;refseq.end_1=225249198;refseq.end_2=225249198;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5920;refseq.mrnaCoord_2=5677;refseq.name2_1=CDC42BPA;refseq.name2_2=CDC42BPA;refseq.name_1=NM_003607;refseq.name_2=NM_014826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1659S;refseq.proteinCoordStr_2=p.S1578S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=225249198;refseq.start_2=225249198;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr1 225394027 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1263T>G;refseq.codingCoordStr_2=c.1263T>G;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.end_1=225394027;refseq.end_2=225394027;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2206;refseq.mrnaCoord_2=2206;refseq.name2_1=CDC42BPA;refseq.name2_2=CDC42BPA;refseq.name_1=NM_003607;refseq.name_2=NM_014826;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G421G;refseq.proteinCoordStr_2=p.G421G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=225394027;refseq.start_2=225394027;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr1 225989704 . G A 73.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=95.33;MQ0=0;OQ=661.97;QD=28.78;RankSumP=1.00000;SB=-348.33;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.32C>T;refseq.codingCoordStr_2=c.32C>T;refseq.codingCoordStr_3=c.-30G>A;refseq.codonCoord_1=11;refseq.codonCoord_2=11;refseq.end_1=225989704;refseq.end_2=225989704;refseq.end_3=225989704;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=32;refseq.mrnaCoord_2=32;refseq.mrnaCoord_3=385;refseq.name2_1=JMJD4;refseq.name2_2=JMJD4;refseq.name2_3=SNAP47;refseq.name_1=NM_001161465;refseq.name_2=NM_023007;refseq.name_3=NM_053052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.A11V;refseq.proteinCoordStr_2=p.A11V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=-120;refseq.start_1=225989704;refseq.start_2=225989704;refseq.start_3=225989704;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr1 226099820 . A G 110.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=3.74;MQ=98.31;MQ0=0;OQ=1647.54;QD=13.84;RankSumP=0.152635;SB=-417.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.610A>G;refseq.codonCoord=204;refseq.end=226099820;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_183062;refseq.name2=PRSS38;refseq.positionType=CDS;refseq.proteinCoordStr=p.M204V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=27;refseq.start=226099820;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr1 226179786 . A G 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=189.49;QD=21.05;RankSumP=1.00000;SB=-86.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.153T>C;refseq.codonCoord=51;refseq.end=226179786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_003395;refseq.name2=WNT9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A51A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=58;refseq.start=226179786;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr1 226352311 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.520T>G;refseq.codingCoordStr_2=c.520T>G;refseq.codingCoordStr_3=c.520T>G;refseq.codingCoordStr_4=c.520T>G;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.codonCoord_3=174;refseq.codonCoord_4=174;refseq.end_1=226352311;refseq.end_2=226352311;refseq.end_3=226352311;refseq.end_4=226352311;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=782;refseq.mrnaCoord_3=760;refseq.mrnaCoord_4=663;refseq.name2_1=ARF1;refseq.name2_2=ARF1;refseq.name2_3=ARF1;refseq.name2_4=ARF1;refseq.name_1=NM_001024226;refseq.name_2=NM_001024227;refseq.name_3=NM_001024228;refseq.name_4=NM_001658;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S174A;refseq.proteinCoordStr_2=p.S174A;refseq.proteinCoordStr_3=p.S174A;refseq.proteinCoordStr_4=p.S174A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.spliceDist_3=136;refseq.spliceDist_4=136;refseq.start_1=226352311;refseq.start_2=226352311;refseq.start_3=226352311;refseq.start_4=226352311;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr1 226362033 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.codingCoordStr_1=c.187A>C;refseq.codingCoordStr_2=c.187A>C;refseq.codingCoordStr_3=c.187A>C;refseq.codingCoordStr_4=c.187A>C;refseq.codingCoordStr_5=c.295A>C;refseq.codingCoordStr_6=c.187A>C;refseq.codingCoordStr_7=c.187A>C;refseq.codingCoordStr_8=c.187A>C;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.codonCoord_3=63;refseq.codonCoord_4=63;refseq.codonCoord_5=99;refseq.codonCoord_6=63;refseq.codonCoord_7=63;refseq.codonCoord_8=63;refseq.end_1=226362033;refseq.end_2=226362033;refseq.end_3=226362033;refseq.end_4=226362033;refseq.end_5=226362033;refseq.end_6=226362033;refseq.end_7=226362033;refseq.end_8=226362033;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=409;refseq.mrnaCoord_2=402;refseq.mrnaCoord_3=405;refseq.mrnaCoord_4=447;refseq.mrnaCoord_5=584;refseq.mrnaCoord_6=476;refseq.mrnaCoord_7=364;refseq.mrnaCoord_8=297;refseq.name2_1=MRPL55;refseq.name2_2=MRPL55;refseq.name2_3=MRPL55;refseq.name2_4=MRPL55;refseq.name2_5=MRPL55;refseq.name2_6=MRPL55;refseq.name2_7=MRPL55;refseq.name2_8=MRPL55;refseq.name_1=NM_181441;refseq.name_2=NM_181454;refseq.name_3=NM_181455;refseq.name_4=NM_181456;refseq.name_5=NM_181462;refseq.name_6=NM_181463;refseq.name_7=NM_181464;refseq.name_8=NM_181465;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T63P;refseq.proteinCoordStr_2=p.T63P;refseq.proteinCoordStr_3=p.T63P;refseq.proteinCoordStr_4=p.T63P;refseq.proteinCoordStr_5=p.T99P;refseq.proteinCoordStr_6=p.T63P;refseq.proteinCoordStr_7=p.T63P;refseq.proteinCoordStr_8=p.T63P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.referenceCodon_7=ACC;refseq.referenceCodon_8=ACC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.spliceDist_5=-42;refseq.spliceDist_6=-42;refseq.spliceDist_7=-42;refseq.spliceDist_8=-42;refseq.start_1=226362033;refseq.start_2=226362033;refseq.start_3=226362033;refseq.start_4=226362033;refseq.start_5=226362033;refseq.start_6=226362033;refseq.start_7=226362033;refseq.start_8=226362033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;set=FilteredInAll GT 1/0 chr1 226420274 . G C 62.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.33;MQ0=0;OQ=79.51;QD=15.90;RankSumP=0.600000;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.134G>C;refseq.codonCoord=45;refseq.end=226420274;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_001010867;refseq.name2=C1orf69;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-208;refseq.start=226420274;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 226429305 . G A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=375.02;QD=20.83;RankSumP=0.233525;SB=-123.61;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.631G>A;refseq.codonCoord=211;refseq.end=226429305;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_001010867;refseq.name2=C1orf69;refseq.positionType=CDS;refseq.proteinCoordStr=p.G211S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-49;refseq.start=226429305;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 226655421 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.602A>G;refseq.codonCoord=201;refseq.end=226655421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_145214;refseq.name2=TRIM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.E201G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=98;refseq.start=226655421;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 226668119 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=16;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.525+2;refseq.codingCoordStr_2=c.444+2;refseq.codingCoordStr_3=c.525+2;refseq.codingCoordStr_4=c.525+2;refseq.end_1=226668119;refseq.end_2=226668119;refseq.end_3=226668119;refseq.end_4=226668119;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=TRIM17;refseq.name2_2=TRIM17;refseq.name2_3=TRIM17;refseq.name2_4=TRIM17;refseq.name_1=NM_001024940;refseq.name_2=NM_001024941;refseq.name_3=NM_001134855;refseq.name_4=NM_016102;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=226668119;refseq.start_2=226668119;refseq.start_3=226668119;refseq.start_4=226668119;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 0/1 chr1 226679461 . G T 273.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=5.18;MQ=96.96;MQ0=0;OQ=7082.55;QD=34.22;RankSumP=1.00000;SB=-3369.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.189C>A;refseq.codonCoord=63;refseq.end=226679461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_003493;refseq.name2=HIST3H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I63I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=189;refseq.start=226679461;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr1 226679560 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.61249e-08;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.90A>C;refseq.codonCoord=30;refseq.end=226679560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=90;refseq.name=NM_003493;refseq.name2=HIST3H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A30A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=90;refseq.start=226679560;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 226938316 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=6.56;MQ=98.83;MQ0=0;OQ=2146.81;QD=13.76;RankSumP=0.404884;SB=-822.79;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.204C>T;refseq.codonCoord=68;refseq.end=226938316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_021205;refseq.name2=RHOU;refseq.positionType=CDS;refseq.proteinCoordStr=p.S68S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-59;refseq.start=226938316;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr1 227527647 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=583;Dels=0.00;HRun=0;HaplotypeScore=23.08;MQ=98.67;MQ0=0;OQ=10914.72;QD=18.72;RankSumP=0.267279;SB=-4536.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.771G>A;refseq.codonCoord=257;refseq.end=227527647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_145257;refseq.name2=C1orf96;refseq.positionType=CDS;refseq.proteinCoordStr=p.P257P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=135;refseq.start=227527647;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 227529174 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.570A>G;refseq.codonCoord=190;refseq.end=227529174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_145257;refseq.name2=C1orf96;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-67;refseq.start=227529174;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 227673030 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1996A>C;refseq.codonCoord=666;refseq.end=227673030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2088;refseq.name=NM_018230;refseq.name2=NUP133;refseq.positionType=CDS;refseq.proteinCoordStr=p.T666P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-81;refseq.start=227673030;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 227734027 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=170;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.91;MQ0=0;OQ=2848.20;QD=16.75;RankSumP=0.496218;SB=-1250.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1414G>C;refseq.codonCoord=472;refseq.end=227734027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1457;refseq.name=NM_012089;refseq.name2=ABCB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E472Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-22;refseq.start=227734027;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 227797075 . G A 225.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.76;MQ0=0;OQ=1446.66;QD=16.44;RankSumP=0.00550039;SB=-687.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1362C>T;refseq.codonCoord=454;refseq.end=227797075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_014409;refseq.name2=TAF5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S454S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=390;refseq.start=227797075;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/0 chr1 227804793 . T G 238.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=9.22;MQ=98.47;MQ0=0;OQ=9306.52;QD=17.36;RankSumP=0.00570363;SB=-3530.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.744A>C;refseq.codingCoordStr_2=c.744A>C;refseq.codonCoord_1=248;refseq.codonCoord_2=248;refseq.end_1=227804793;refseq.end_2=227804793;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=910;refseq.mrnaCoord_2=910;refseq.name2_1=TAF5L;refseq.name2_2=TAF5L;refseq.name_1=NM_001025247;refseq.name_2=NM_014409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R248R;refseq.proteinCoordStr_2=p.R248R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=497;refseq.spliceDist_2=-229;refseq.start_1=227804793;refseq.start_2=227804793;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=filterInsoap-gatk GT 1/0 chr1 227804859 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=35.45;MQ=97.72;MQ0=0;OQ=6234.52;QD=20.18;RankSumP=0.122594;SB=-2129.09;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.678C>T;refseq.codingCoordStr_2=c.678C>T;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=227804859;refseq.end_2=227804859;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=844;refseq.mrnaCoord_2=844;refseq.name2_1=TAF5L;refseq.name2_2=TAF5L;refseq.name_1=NM_001025247;refseq.name_2=NM_014409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P226P;refseq.proteinCoordStr_2=p.P226P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=431;refseq.spliceDist_2=-295;refseq.start_1=227804859;refseq.start_2=227804859;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr1 227839316 . T G 151.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2757.37;QD=17.02;RankSumP=0.187246;SB=-775.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2333T>G;refseq.codonCoord=778;refseq.end=227839316;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2469;refseq.name=NM_014777;refseq.name2=URB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V778G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-1302;refseq.start=227839316;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr1 227853653 . G A 351.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.71;MQ0=0;OQ=4235.68;QD=20.46;RankSumP=0.461823;SB=-1631.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4198G>A;refseq.codonCoord=1400;refseq.end=227853653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4334;refseq.name=NM_014777;refseq.name2=URB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1400M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-40;refseq.start=227853653;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr1 227856671 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=462;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=98.93;MQ0=0;OQ=8933.29;QD=19.34;RankSumP=0.0682883;SB=-3642.60;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4290A>G;refseq.codonCoord=1430;refseq.end=227856671;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4426;refseq.name=NM_014777;refseq.name2=URB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1430R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=53;refseq.start=227856671;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr1 228438406 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.398T>G;refseq.codonCoord=133;refseq.end=228438406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_004481;refseq.name2=GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=24;refseq.start=228438406;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 228451560 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=4.98;MQ=98.80;MQ0=0;OQ=663.66;QD=9.22;RankSumP=0.383965;SB=-298.15;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.825T>C;refseq.codonCoord=275;refseq.end=228451560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_004481;refseq.name2=GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D275D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=228451560;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr1 228481771 . G A 184.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=98.99;MQ0=0;OQ=1941.38;QD=13.48;RankSumP=0.0536179;SB=-709.52;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1660G>A;refseq.codonCoord=554;refseq.end=228481771;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1732;refseq.name=NM_004481;refseq.name2=GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V554M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=100;refseq.start=228481771;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr1 228908310 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.74;MQ0=0;OQ=1371.98;QD=13.72;RankSumP=0.412703;SB=-428.19;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1116A>G;refseq.codonCoord=372;refseq.end=228908310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1624;refseq.name=NM_000029;refseq.name2=AGT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L372L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=228908310;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 228912417 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=30.06;MQ=98.71;MQ0=0;OQ=1609.44;QD=9.75;RankSumP=0.261996;SB=-0.98;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.803T>C;refseq.codonCoord=268;refseq.end=228912417;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_000029;refseq.name2=AGT;refseq.positionType=CDS;refseq.proteinCoordStr=p.M268T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-54;refseq.start=228912417;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr1 228965117 . C T 120.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=98.92;MQ0=0;OQ=2757.96;QD=12.10;RankSumP=0.179266;SB=-674.56;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.498C>T;refseq.codingCoordStr_2=c.498C>T;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.end_1=228965117;refseq.end_2=228965117;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=580;refseq.name2_1=CAPN9;refseq.name2_2=CAPN9;refseq.name_1=NM_006615;refseq.name_2=NM_016452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N166N;refseq.proteinCoordStr_2=p.N166N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=228965117;refseq.start_2=228965117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr1 228969973 . T C 148.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=98.72;MQ0=0;OQ=3108.32;QD=13.01;RankSumP=0.208284;SB=-1442.48;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.600T>C;refseq.codingCoordStr_2=c.600T>C;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=228969973;refseq.end_2=228969973;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=713;refseq.mrnaCoord_2=682;refseq.name2_1=CAPN9;refseq.name2_2=CAPN9;refseq.name_1=NM_006615;refseq.name_2=NM_016452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T200T;refseq.proteinCoordStr_2=p.T200T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=228969973;refseq.start_2=228969973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr1 228981422 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1034C>G;refseq.codingCoordStr_2=c.956C>G;refseq.codonCoord_1=345;refseq.codonCoord_2=319;refseq.end_1=228981422;refseq.end_2=228981422;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1147;refseq.mrnaCoord_2=1038;refseq.name2_1=CAPN9;refseq.name2_2=CAPN9;refseq.name_1=NM_006615;refseq.name_2=NM_016452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A345G;refseq.proteinCoordStr_2=p.A319G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=228981422;refseq.start_2=228981422;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 229109355 . T A 197.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=98.74;MQ0=0;OQ=2559.36;QD=15.80;RankSumP=0.438693;SB=-782.23;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2343A>T;refseq.codingCoordStr_2=c.2502A>T;refseq.codonCoord_1=781;refseq.codonCoord_2=834;refseq.end_1=229109355;refseq.end_2=229109355;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2374;refseq.mrnaCoord_2=2533;refseq.name2_1=TTC13;refseq.name2_2=TTC13;refseq.name_1=NM_001122835;refseq.name_2=NM_024525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V781V;refseq.proteinCoordStr_2=p.V834V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=229109355;refseq.start_2=229109355;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr1 229123870 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.79;MQ0=0;OQ=739.97;QD=10.57;RankSumP=0.407744;SB=-224.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1659T>A;refseq.codingCoordStr_2=c.1818T>A;refseq.codonCoord_1=553;refseq.codonCoord_2=606;refseq.end_1=229123870;refseq.end_2=229123870;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1690;refseq.mrnaCoord_2=1849;refseq.name2_1=TTC13;refseq.name2_2=TTC13;refseq.name_1=NM_001122835;refseq.name_2=NM_024525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G553G;refseq.proteinCoordStr_2=p.G606G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=229123870;refseq.start_2=229123870;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr1 229141813 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.683A>C;refseq.codingCoordStr_2=c.842A>C;refseq.codonCoord_1=228;refseq.codonCoord_2=281;refseq.end_1=229141813;refseq.end_2=229141813;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=714;refseq.mrnaCoord_2=873;refseq.name2_1=TTC13;refseq.name2_2=TTC13;refseq.name_1=NM_001122835;refseq.name_2=NM_024525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N228T;refseq.proteinCoordStr_2=p.N281T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=229141813;refseq.start_2=229141813;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr1 229181088 . C G 14.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=14.25;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.112G>C;refseq.codingCoordStr_2=c.112G>C;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.end_1=229181088;refseq.end_2=229181088;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=143;refseq.mrnaCoord_2=143;refseq.name2_1=TTC13;refseq.name2_2=TTC13;refseq.name_1=NM_001122835;refseq.name_2=NM_024525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G38R;refseq.proteinCoordStr_2=p.G38R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=143;refseq.spliceDist_2=143;refseq.start_1=229181088;refseq.start_2=229181088;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 1/1 chr1 229443429 . G C 209.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.82;MQ0=0;OQ=1439.12;QD=14.39;RankSumP=0.343108;SB=-593.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.82C>G;refseq.codonCoord=28;refseq.end=229443429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=119;refseq.name=NM_152379;refseq.name2=C1orf131;refseq.positionType=CDS;refseq.proteinCoordStr=p.L28V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-37;refseq.start=229443429;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr1 229468525 . G A 61.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=98.84;MQ0=0;OQ=8571.79;QD=19.93;RankSumP=0.00000;SB=-3588.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.915G>A;refseq.codonCoord=305;refseq.end=229468525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_014236;refseq.name2=GNPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E305E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=229468525;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/0 chr1 229479890 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2022A>C;refseq.codonCoord=674;refseq.end=229479890;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2228;refseq.name=NM_014236;refseq.name2=GNPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.K674N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=23;refseq.start=229479890;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr1 229539291 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.824A>G;refseq.codonCoord=275;refseq.end=229539291;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_175876;refseq.name2=EXOC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E275G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=911;refseq.start=229539291;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr1 229555147 . C T 138.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=3.26;MQ=98.56;MQ0=0;OQ=1854.50;QD=14.60;RankSumP=0.416461;SB=-525.56;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.*1172C>T;refseq.codingCoordStr_2=c.887C>T;refseq.codonCoord_2=296;refseq.end_1=229555147;refseq.end_2=229555147;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2373;refseq.mrnaCoord_2=1335;refseq.name2_1=C1orf124;refseq.name2_2=C1orf124;refseq.name_1=NM_001010984;refseq.name_2=NM_032018;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P296L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-1466;refseq.spliceDist_2=169;refseq.start_1=229555147;refseq.start_2=229555147;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr1 229896918 . G A 227.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=1440.95;QD=17.79;RankSumP=0.143677;SB=-402.89;SecondBestBaseQ=31;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_15=true;refseq.changesAA_16=true;refseq.changesAA_17=true;refseq.changesAA_18=true;refseq.changesAA_19=true;refseq.changesAA_20=true;refseq.changesAA_21=true;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.changesAA_24=true;refseq.changesAA_25=true;refseq.changesAA_26=true;refseq.changesAA_27=true;refseq.changesAA_28=true;refseq.changesAA_29=true;refseq.changesAA_30=true;refseq.changesAA_31=true;refseq.chr_1=chr1;refseq.chr_10=chr1;refseq.chr_11=chr1;refseq.chr_12=chr1;refseq.chr_13=chr1;refseq.chr_14=chr1;refseq.chr_15=chr1;refseq.chr_16=chr1;refseq.chr_17=chr1;refseq.chr_18=chr1;refseq.chr_19=chr1;refseq.chr_2=chr1;refseq.chr_20=chr1;refseq.chr_21=chr1;refseq.chr_22=chr1;refseq.chr_23=chr1;refseq.chr_24=chr1;refseq.chr_25=chr1;refseq.chr_26=chr1;refseq.chr_27=chr1;refseq.chr_28=chr1;refseq.chr_29=chr1;refseq.chr_3=chr1;refseq.chr_30=chr1;refseq.chr_31=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.chr_9=chr1;refseq.codingCoordStr_10=c.791G>A;refseq.codingCoordStr_11=c.791G>A;refseq.codingCoordStr_12=c.791G>A;refseq.codingCoordStr_13=c.791G>A;refseq.codingCoordStr_14=c.791G>A;refseq.codingCoordStr_15=c.791G>A;refseq.codingCoordStr_16=c.791G>A;refseq.codingCoordStr_17=c.791G>A;refseq.codingCoordStr_18=c.791G>A;refseq.codingCoordStr_19=c.791G>A;refseq.codingCoordStr_20=c.791G>A;refseq.codingCoordStr_21=c.791G>A;refseq.codingCoordStr_22=c.791G>A;refseq.codingCoordStr_23=c.791G>A;refseq.codingCoordStr_24=c.791G>A;refseq.codingCoordStr_25=c.791G>A;refseq.codingCoordStr_26=c.791G>A;refseq.codingCoordStr_27=c.791G>A;refseq.codingCoordStr_28=c.791G>A;refseq.codingCoordStr_29=c.791G>A;refseq.codingCoordStr_30=c.791G>A;refseq.codingCoordStr_31=c.791G>A;refseq.codonCoord_10=264;refseq.codonCoord_11=264;refseq.codonCoord_12=264;refseq.codonCoord_13=264;refseq.codonCoord_14=264;refseq.codonCoord_15=264;refseq.codonCoord_16=264;refseq.codonCoord_17=264;refseq.codonCoord_18=264;refseq.codonCoord_19=264;refseq.codonCoord_20=264;refseq.codonCoord_21=264;refseq.codonCoord_22=264;refseq.codonCoord_23=264;refseq.codonCoord_24=264;refseq.codonCoord_25=264;refseq.codonCoord_26=264;refseq.codonCoord_27=264;refseq.codonCoord_28=264;refseq.codonCoord_29=264;refseq.codonCoord_30=264;refseq.codonCoord_31=264;refseq.end_1=229952284;refseq.end_10=229896918;refseq.end_11=229896918;refseq.end_12=229896918;refseq.end_13=229896918;refseq.end_14=229896918;refseq.end_15=229896918;refseq.end_16=229896918;refseq.end_17=229896918;refseq.end_18=229896918;refseq.end_19=229896918;refseq.end_2=229896918;refseq.end_20=229896918;refseq.end_21=229896918;refseq.end_22=229896918;refseq.end_23=229896918;refseq.end_24=229896918;refseq.end_25=229896918;refseq.end_26=229896918;refseq.end_27=229896918;refseq.end_28=229896918;refseq.end_29=229896918;refseq.end_3=229896918;refseq.end_30=229896918;refseq.end_31=229896918;refseq.end_4=229896918;refseq.end_5=229896918;refseq.end_6=229896918;refseq.end_7=229896918;refseq.end_8=229896918;refseq.end_9=229896918;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_14=1;refseq.frame_15=1;refseq.frame_16=1;refseq.frame_17=1;refseq.frame_18=1;refseq.frame_19=1;refseq.frame_20=1;refseq.frame_21=1;refseq.frame_22=1;refseq.frame_23=1;refseq.frame_24=1;refseq.frame_25=1;refseq.frame_26=1;refseq.frame_27=1;refseq.frame_28=1;refseq.frame_29=1;refseq.frame_30=1;refseq.frame_31=1;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_15=missense;refseq.functionalClass_16=missense;refseq.functionalClass_17=missense;refseq.functionalClass_18=missense;refseq.functionalClass_19=missense;refseq.functionalClass_20=missense;refseq.functionalClass_21=missense;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.functionalClass_24=missense;refseq.functionalClass_25=missense;refseq.functionalClass_26=missense;refseq.functionalClass_27=missense;refseq.functionalClass_28=missense;refseq.functionalClass_29=missense;refseq.functionalClass_30=missense;refseq.functionalClass_31=missense;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_12=A;refseq.haplotypeAlternate_13=A;refseq.haplotypeAlternate_14=A;refseq.haplotypeAlternate_15=A;refseq.haplotypeAlternate_16=A;refseq.haplotypeAlternate_17=A;refseq.haplotypeAlternate_18=A;refseq.haplotypeAlternate_19=A;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_20=A;refseq.haplotypeAlternate_21=A;refseq.haplotypeAlternate_22=A;refseq.haplotypeAlternate_23=A;refseq.haplotypeAlternate_24=A;refseq.haplotypeAlternate_25=A;refseq.haplotypeAlternate_26=A;refseq.haplotypeAlternate_27=A;refseq.haplotypeAlternate_28=A;refseq.haplotypeAlternate_29=A;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_30=A;refseq.haplotypeAlternate_31=A;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=*;refseq.haplotypeAlternate_6=*;refseq.haplotypeAlternate_7=*;refseq.haplotypeAlternate_8=*;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_13=G;refseq.haplotypeReference_14=G;refseq.haplotypeReference_15=G;refseq.haplotypeReference_16=G;refseq.haplotypeReference_17=G;refseq.haplotypeReference_18=G;refseq.haplotypeReference_19=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=G;refseq.haplotypeReference_21=G;refseq.haplotypeReference_22=G;refseq.haplotypeReference_23=G;refseq.haplotypeReference_24=G;refseq.haplotypeReference_25=G;refseq.haplotypeReference_26=G;refseq.haplotypeReference_27=G;refseq.haplotypeReference_28=G;refseq.haplotypeReference_29=G;refseq.haplotypeReference_3=*;refseq.haplotypeReference_30=G;refseq.haplotypeReference_31=G;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_20=true;refseq.inCodingRegion_21=true;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_24=true;refseq.inCodingRegion_25=true;refseq.inCodingRegion_26=true;refseq.inCodingRegion_27=true;refseq.inCodingRegion_28=true;refseq.inCodingRegion_29=true;refseq.inCodingRegion_30=true;refseq.inCodingRegion_31=true;refseq.mrnaCoord_10=844;refseq.mrnaCoord_11=844;refseq.mrnaCoord_12=844;refseq.mrnaCoord_13=844;refseq.mrnaCoord_14=844;refseq.mrnaCoord_15=844;refseq.mrnaCoord_16=844;refseq.mrnaCoord_17=844;refseq.mrnaCoord_18=844;refseq.mrnaCoord_19=844;refseq.mrnaCoord_2=1512;refseq.mrnaCoord_20=844;refseq.mrnaCoord_21=844;refseq.mrnaCoord_22=844;refseq.mrnaCoord_23=844;refseq.mrnaCoord_24=844;refseq.mrnaCoord_25=844;refseq.mrnaCoord_26=844;refseq.mrnaCoord_27=844;refseq.mrnaCoord_28=844;refseq.mrnaCoord_29=844;refseq.mrnaCoord_3=1640;refseq.mrnaCoord_30=844;refseq.mrnaCoord_31=844;refseq.mrnaCoord_4=1640;refseq.mrnaCoord_5=1512;refseq.mrnaCoord_6=1377;refseq.mrnaCoord_7=1131;refseq.mrnaCoord_8=1747;refseq.mrnaCoord_9=1619;refseq.name2_1=DISC1;refseq.name2_10=DISC1;refseq.name2_11=DISC1;refseq.name2_12=DISC1;refseq.name2_13=DISC1;refseq.name2_14=DISC1;refseq.name2_15=DISC1;refseq.name2_16=DISC1;refseq.name2_17=DISC1;refseq.name2_18=DISC1;refseq.name2_19=DISC1;refseq.name2_2=TSNAX-DISC1;refseq.name2_20=DISC1;refseq.name2_21=DISC1;refseq.name2_22=DISC1;refseq.name2_23=DISC1;refseq.name2_24=DISC1;refseq.name2_25=DISC1;refseq.name2_26=DISC1;refseq.name2_27=DISC1;refseq.name2_28=DISC1;refseq.name2_29=DISC1;refseq.name2_3=TSNAX-DISC1;refseq.name2_30=DISC1;refseq.name2_31=DISC1;refseq.name2_4=TSNAX-DISC1;refseq.name2_5=TSNAX-DISC1;refseq.name2_6=TSNAX-DISC1;refseq.name2_7=TSNAX-DISC1;refseq.name2_8=TSNAX-DISC1;refseq.name2_9=TSNAX-DISC1;refseq.name_1=NM_001164556;refseq.name_10=NM_001012957;refseq.name_11=NM_001012958;refseq.name_12=NM_001012959;refseq.name_13=NM_001164537;refseq.name_14=NM_001164538;refseq.name_15=NM_001164539;refseq.name_16=NM_001164540;refseq.name_17=NM_001164541;refseq.name_18=NM_001164542;refseq.name_19=NM_001164544;refseq.name_2=NR_028393;refseq.name_20=NM_001164545;refseq.name_21=NM_001164546;refseq.name_22=NM_001164547;refseq.name_23=NM_001164548;refseq.name_24=NM_001164549;refseq.name_25=NM_001164550;refseq.name_26=NM_001164551;refseq.name_27=NM_001164552;refseq.name_28=NM_001164553;refseq.name_29=NM_001164554;refseq.name_3=NR_028394;refseq.name_30=NM_001164555;refseq.name_31=NM_018662;refseq.name_4=NR_028395;refseq.name_5=NR_028396;refseq.name_6=NR_028397;refseq.name_7=NR_028398;refseq.name_8=NR_028399;refseq.name_9=NR_028400;refseq.numMatchingRecords=31;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=non_coding_exon;refseq.positionType_20=CDS;refseq.positionType_21=CDS;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_24=CDS;refseq.positionType_25=CDS;refseq.positionType_26=CDS;refseq.positionType_27=CDS;refseq.positionType_28=CDS;refseq.positionType_29=CDS;refseq.positionType_3=non_coding_exon;refseq.positionType_30=CDS;refseq.positionType_31=CDS;refseq.positionType_4=non_coding_exon;refseq.positionType_5=non_coding_exon;refseq.positionType_6=non_coding_exon;refseq.positionType_7=non_coding_exon;refseq.positionType_8=non_coding_exon;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_10=p.R264Q;refseq.proteinCoordStr_11=p.R264Q;refseq.proteinCoordStr_12=p.R264Q;refseq.proteinCoordStr_13=p.R264Q;refseq.proteinCoordStr_14=p.R264Q;refseq.proteinCoordStr_15=p.R264Q;refseq.proteinCoordStr_16=p.R264Q;refseq.proteinCoordStr_17=p.R264Q;refseq.proteinCoordStr_18=p.R264Q;refseq.proteinCoordStr_19=p.R264Q;refseq.proteinCoordStr_20=p.R264Q;refseq.proteinCoordStr_21=p.R264Q;refseq.proteinCoordStr_22=p.R264Q;refseq.proteinCoordStr_23=p.R264Q;refseq.proteinCoordStr_24=p.R264Q;refseq.proteinCoordStr_25=p.R264Q;refseq.proteinCoordStr_26=p.R264Q;refseq.proteinCoordStr_27=p.R264Q;refseq.proteinCoordStr_28=p.R264Q;refseq.proteinCoordStr_29=p.R264Q;refseq.proteinCoordStr_30=p.R264Q;refseq.proteinCoordStr_31=p.R264Q;refseq.referenceAA_10=Arg;refseq.referenceAA_11=Arg;refseq.referenceAA_12=Arg;refseq.referenceAA_13=Arg;refseq.referenceAA_14=Arg;refseq.referenceAA_15=Arg;refseq.referenceAA_16=Arg;refseq.referenceAA_17=Arg;refseq.referenceAA_18=Arg;refseq.referenceAA_19=Arg;refseq.referenceAA_20=Arg;refseq.referenceAA_21=Arg;refseq.referenceAA_22=Arg;refseq.referenceAA_23=Arg;refseq.referenceAA_24=Arg;refseq.referenceAA_25=Arg;refseq.referenceAA_26=Arg;refseq.referenceAA_27=Arg;refseq.referenceAA_28=Arg;refseq.referenceAA_29=Arg;refseq.referenceAA_30=Arg;refseq.referenceAA_31=Arg;refseq.referenceCodon_10=CGG;refseq.referenceCodon_11=CGG;refseq.referenceCodon_12=CGG;refseq.referenceCodon_13=CGG;refseq.referenceCodon_14=CGG;refseq.referenceCodon_15=CGG;refseq.referenceCodon_16=CGG;refseq.referenceCodon_17=CGG;refseq.referenceCodon_18=CGG;refseq.referenceCodon_19=CGG;refseq.referenceCodon_20=CGG;refseq.referenceCodon_21=CGG;refseq.referenceCodon_22=CGG;refseq.referenceCodon_23=CGG;refseq.referenceCodon_24=CGG;refseq.referenceCodon_25=CGG;refseq.referenceCodon_26=CGG;refseq.referenceCodon_27=CGG;refseq.referenceCodon_28=CGG;refseq.referenceCodon_29=CGG;refseq.referenceCodon_30=CGG;refseq.referenceCodon_31=CGG;refseq.spliceDist_10=-257;refseq.spliceDist_11=-257;refseq.spliceDist_12=-257;refseq.spliceDist_13=-257;refseq.spliceDist_14=-257;refseq.spliceDist_15=-257;refseq.spliceDist_16=-257;refseq.spliceDist_17=-257;refseq.spliceDist_18=-257;refseq.spliceDist_19=-257;refseq.spliceDist_2=-257;refseq.spliceDist_20=-257;refseq.spliceDist_21=-257;refseq.spliceDist_22=-257;refseq.spliceDist_23=-257;refseq.spliceDist_24=-257;refseq.spliceDist_25=-257;refseq.spliceDist_26=-257;refseq.spliceDist_27=-257;refseq.spliceDist_28=-257;refseq.spliceDist_29=-257;refseq.spliceDist_3=-257;refseq.spliceDist_30=-257;refseq.spliceDist_31=-257;refseq.spliceDist_4=-257;refseq.spliceDist_5=-257;refseq.spliceDist_6=-257;refseq.spliceDist_7=-257;refseq.spliceDist_8=-257;refseq.spliceDist_9=-257;refseq.start_1=229829314;refseq.start_10=229896918;refseq.start_11=229896918;refseq.start_12=229896918;refseq.start_13=229896918;refseq.start_14=229896918;refseq.start_15=229896918;refseq.start_16=229896918;refseq.start_17=229896918;refseq.start_18=229896918;refseq.start_19=229896918;refseq.start_2=229896918;refseq.start_20=229896918;refseq.start_21=229896918;refseq.start_22=229896918;refseq.start_23=229896918;refseq.start_24=229896918;refseq.start_25=229896918;refseq.start_26=229896918;refseq.start_27=229896918;refseq.start_28=229896918;refseq.start_29=229896918;refseq.start_3=229896918;refseq.start_30=229896918;refseq.start_31=229896918;refseq.start_4=229896918;refseq.start_5=229896918;refseq.start_6=229896918;refseq.start_7=229896918;refseq.start_8=229896918;refseq.start_9=229896918;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_24=+;refseq.transcriptStrand_25=+;refseq.transcriptStrand_26=+;refseq.transcriptStrand_27=+;refseq.transcriptStrand_28=+;refseq.transcriptStrand_29=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_30=+;refseq.transcriptStrand_31=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Gln;refseq.variantAA_11=Gln;refseq.variantAA_12=Gln;refseq.variantAA_13=Gln;refseq.variantAA_14=Gln;refseq.variantAA_15=Gln;refseq.variantAA_16=Gln;refseq.variantAA_17=Gln;refseq.variantAA_18=Gln;refseq.variantAA_19=Gln;refseq.variantAA_20=Gln;refseq.variantAA_21=Gln;refseq.variantAA_22=Gln;refseq.variantAA_23=Gln;refseq.variantAA_24=Gln;refseq.variantAA_25=Gln;refseq.variantAA_26=Gln;refseq.variantAA_27=Gln;refseq.variantAA_28=Gln;refseq.variantAA_29=Gln;refseq.variantAA_30=Gln;refseq.variantAA_31=Gln;refseq.variantCodon_10=CAG;refseq.variantCodon_11=CAG;refseq.variantCodon_12=CAG;refseq.variantCodon_13=CAG;refseq.variantCodon_14=CAG;refseq.variantCodon_15=CAG;refseq.variantCodon_16=CAG;refseq.variantCodon_17=CAG;refseq.variantCodon_18=CAG;refseq.variantCodon_19=CAG;refseq.variantCodon_20=CAG;refseq.variantCodon_21=CAG;refseq.variantCodon_22=CAG;refseq.variantCodon_23=CAG;refseq.variantCodon_24=CAG;refseq.variantCodon_25=CAG;refseq.variantCodon_26=CAG;refseq.variantCodon_27=CAG;refseq.variantCodon_28=CAG;refseq.variantCodon_29=CAG;refseq.variantCodon_30=CAG;refseq.variantCodon_31=CAG;set=Intersection GT 1/0 chr1 230020724 . C T 121.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=10.81;MQ=98.74;MQ0=0;OQ=5878.92;QD=21.85;RankSumP=0.440930;SB=-2436.24;SecondBestBaseQ=33;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_15=true;refseq.changesAA_16=true;refseq.changesAA_17=true;refseq.changesAA_18=true;refseq.changesAA_19=false;refseq.changesAA_22=true;refseq.chr_1=chr1;refseq.chr_10=chr1;refseq.chr_11=chr1;refseq.chr_12=chr1;refseq.chr_13=chr1;refseq.chr_14=chr1;refseq.chr_15=chr1;refseq.chr_16=chr1;refseq.chr_17=chr1;refseq.chr_18=chr1;refseq.chr_19=chr1;refseq.chr_2=chr1;refseq.chr_20=chr1;refseq.chr_21=chr1;refseq.chr_22=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.chr_6=chr1;refseq.chr_7=chr1;refseq.chr_8=chr1;refseq.chr_9=chr1;refseq.codingCoordStr_10=c.1819C>T;refseq.codingCoordStr_11=c.1819C>T;refseq.codingCoordStr_12=c.1915C>T;refseq.codingCoordStr_13=c.1819C>T;refseq.codingCoordStr_14=c.1819C>T;refseq.codingCoordStr_15=c.1453C>T;refseq.codingCoordStr_16=c.1819C>T;refseq.codingCoordStr_17=c.1819C>T;refseq.codingCoordStr_18=c.1819C>T;refseq.codingCoordStr_19=c.1716C>T;refseq.codingCoordStr_20=c.*5C>T;refseq.codingCoordStr_21=c.*5C>T;refseq.codingCoordStr_22=c.1819C>T;refseq.codonCoord_10=607;refseq.codonCoord_11=607;refseq.codonCoord_12=639;refseq.codonCoord_13=607;refseq.codonCoord_14=607;refseq.codonCoord_15=485;refseq.codonCoord_16=607;refseq.codonCoord_17=607;refseq.codonCoord_18=607;refseq.codonCoord_19=572;refseq.codonCoord_22=607;refseq.end_1=230161186;refseq.end_10=230020724;refseq.end_11=230020724;refseq.end_12=230020724;refseq.end_13=230020724;refseq.end_14=230020724;refseq.end_15=230020724;refseq.end_16=230020724;refseq.end_17=230020724;refseq.end_18=230020724;refseq.end_19=230020724;refseq.end_2=230161186;refseq.end_20=230020724;refseq.end_21=230020724;refseq.end_22=230020724;refseq.end_3=230020724;refseq.end_4=230020724;refseq.end_5=230020724;refseq.end_6=230020724;refseq.end_7=230020724;refseq.end_8=230020724;refseq.end_9=230020724;refseq.frame_10=0;refseq.frame_11=0;refseq.frame_12=0;refseq.frame_13=0;refseq.frame_14=0;refseq.frame_15=0;refseq.frame_16=0;refseq.frame_17=0;refseq.frame_18=0;refseq.frame_19=2;refseq.frame_22=0;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_15=missense;refseq.functionalClass_16=missense;refseq.functionalClass_17=missense;refseq.functionalClass_18=missense;refseq.functionalClass_19=silent;refseq.functionalClass_22=missense;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeAlternate_12=T;refseq.haplotypeAlternate_13=T;refseq.haplotypeAlternate_14=T;refseq.haplotypeAlternate_15=T;refseq.haplotypeAlternate_16=T;refseq.haplotypeAlternate_17=T;refseq.haplotypeAlternate_18=T;refseq.haplotypeAlternate_19=T;refseq.haplotypeAlternate_20=T;refseq.haplotypeAlternate_21=T;refseq.haplotypeAlternate_22=T;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=*;refseq.haplotypeAlternate_6=*;refseq.haplotypeAlternate_7=*;refseq.haplotypeAlternate_8=*;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=C;refseq.haplotypeReference_11=C;refseq.haplotypeReference_12=C;refseq.haplotypeReference_13=C;refseq.haplotypeReference_14=C;refseq.haplotypeReference_15=C;refseq.haplotypeReference_16=C;refseq.haplotypeReference_17=C;refseq.haplotypeReference_18=C;refseq.haplotypeReference_19=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=C;refseq.haplotypeReference_21=C;refseq.haplotypeReference_22=C;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_20=false;refseq.inCodingRegion_21=false;refseq.inCodingRegion_22=true;refseq.mrnaCoord_10=1872;refseq.mrnaCoord_11=1872;refseq.mrnaCoord_12=1968;refseq.mrnaCoord_13=1872;refseq.mrnaCoord_14=1872;refseq.mrnaCoord_15=1506;refseq.mrnaCoord_16=1872;refseq.mrnaCoord_17=1872;refseq.mrnaCoord_18=1872;refseq.mrnaCoord_19=1769;refseq.mrnaCoord_20=1714;refseq.mrnaCoord_21=664;refseq.mrnaCoord_22=1872;refseq.mrnaCoord_3=163;refseq.mrnaCoord_4=2485;refseq.mrnaCoord_5=2668;refseq.mrnaCoord_6=2565;refseq.mrnaCoord_7=2540;refseq.mrnaCoord_8=2405;refseq.mrnaCoord_9=2159;refseq.name2_1=DISC1;refseq.name2_10=DISC1;refseq.name2_11=DISC1;refseq.name2_12=DISC1;refseq.name2_13=DISC1;refseq.name2_14=DISC1;refseq.name2_15=DISC1;refseq.name2_16=DISC1;refseq.name2_17=DISC1;refseq.name2_18=DISC1;refseq.name2_19=DISC1;refseq.name2_2=DISC1;refseq.name2_20=DISC1;refseq.name2_21=DISC1;refseq.name2_22=DISC1;refseq.name2_3=DISC2;refseq.name2_4=TSNAX-DISC1;refseq.name2_5=TSNAX-DISC1;refseq.name2_6=TSNAX-DISC1;refseq.name2_7=TSNAX-DISC1;refseq.name2_8=TSNAX-DISC1;refseq.name2_9=TSNAX-DISC1;refseq.name_1=NM_001164546;refseq.name_10=NM_001012957;refseq.name_11=NM_001012959;refseq.name_12=NM_001164537;refseq.name_13=NM_001164538;refseq.name_14=NM_001164539;refseq.name_15=NM_001164540;refseq.name_16=NM_001164541;refseq.name_17=NM_001164542;refseq.name_18=NM_001164544;refseq.name_19=NM_001164545;refseq.name_2=NM_001164547;refseq.name_20=NM_001164548;refseq.name_21=NM_001164556;refseq.name_22=NM_018662;refseq.name_3=NR_002227;refseq.name_4=NR_028393;refseq.name_5=NR_028394;refseq.name_6=NR_028395;refseq.name_7=NR_028396;refseq.name_8=NR_028397;refseq.name_9=NR_028398;refseq.numMatchingRecords=22;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=intron;refseq.positionType_20=utr3;refseq.positionType_21=utr3;refseq.positionType_22=CDS;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=non_coding_exon;refseq.positionType_6=non_coding_exon;refseq.positionType_7=non_coding_exon;refseq.positionType_8=non_coding_exon;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_10=p.L607F;refseq.proteinCoordStr_11=p.L607F;refseq.proteinCoordStr_12=p.L639F;refseq.proteinCoordStr_13=p.L607F;refseq.proteinCoordStr_14=p.L607F;refseq.proteinCoordStr_15=p.L485F;refseq.proteinCoordStr_16=p.L607F;refseq.proteinCoordStr_17=p.L607F;refseq.proteinCoordStr_18=p.L607F;refseq.proteinCoordStr_19=p.T572T;refseq.proteinCoordStr_22=p.L607F;refseq.referenceAA_10=Leu;refseq.referenceAA_11=Leu;refseq.referenceAA_12=Leu;refseq.referenceAA_13=Leu;refseq.referenceAA_14=Leu;refseq.referenceAA_15=Leu;refseq.referenceAA_16=Leu;refseq.referenceAA_17=Leu;refseq.referenceAA_18=Leu;refseq.referenceAA_19=Thr;refseq.referenceAA_22=Leu;refseq.referenceCodon_10=CTC;refseq.referenceCodon_11=CTC;refseq.referenceCodon_12=CTC;refseq.referenceCodon_13=CTC;refseq.referenceCodon_14=CTC;refseq.referenceCodon_15=CTC;refseq.referenceCodon_16=CTC;refseq.referenceCodon_17=CTC;refseq.referenceCodon_18=CTC;refseq.referenceCodon_19=ACC;refseq.referenceCodon_22=CTC;refseq.spliceDist_10=27;refseq.spliceDist_11=27;refseq.spliceDist_12=27;refseq.spliceDist_13=27;refseq.spliceDist_14=27;refseq.spliceDist_15=27;refseq.spliceDist_16=27;refseq.spliceDist_17=27;refseq.spliceDist_18=27;refseq.spliceDist_19=27;refseq.spliceDist_20=27;refseq.spliceDist_21=27;refseq.spliceDist_22=27;refseq.spliceDist_3=163;refseq.spliceDist_4=27;refseq.spliceDist_5=27;refseq.spliceDist_6=27;refseq.spliceDist_7=27;refseq.spliceDist_8=27;refseq.spliceDist_9=27;refseq.start_1=229973450;refseq.start_10=230020724;refseq.start_11=230020724;refseq.start_12=230020724;refseq.start_13=230020724;refseq.start_14=230020724;refseq.start_15=230020724;refseq.start_16=230020724;refseq.start_17=230020724;refseq.start_18=230020724;refseq.start_19=230020724;refseq.start_2=229973450;refseq.start_20=230020724;refseq.start_21=230020724;refseq.start_22=230020724;refseq.start_3=230020724;refseq.start_4=230020724;refseq.start_5=230020724;refseq.start_6=230020724;refseq.start_7=230020724;refseq.start_8=230020724;refseq.start_9=230020724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Phe;refseq.variantAA_11=Phe;refseq.variantAA_12=Phe;refseq.variantAA_13=Phe;refseq.variantAA_14=Phe;refseq.variantAA_15=Phe;refseq.variantAA_16=Phe;refseq.variantAA_17=Phe;refseq.variantAA_18=Phe;refseq.variantAA_19=Thr;refseq.variantAA_22=Phe;refseq.variantCodon_10=TTC;refseq.variantCodon_11=TTC;refseq.variantCodon_12=TTC;refseq.variantCodon_13=TTC;refseq.variantCodon_14=TTC;refseq.variantCodon_15=TTC;refseq.variantCodon_16=TTC;refseq.variantCodon_17=TTC;refseq.variantCodon_18=TTC;refseq.variantCodon_19=ACT;refseq.variantCodon_22=TTC;set=Intersection GT 0/1 chr1 230601580 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=98.87;MQ0=0;OQ=1916.67;QD=12.05;RankSumP=0.280862;SB=-772.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5085A>G;refseq.codonCoord=1695;refseq.end=230601580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5243;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1695R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=63;refseq.start=230601580;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr1 230628019 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.64;MQ0=0;OQ=788.63;QD=11.77;RankSumP=0.229234;SB=-188.53;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4569A>G;refseq.codonCoord=1523;refseq.end=230628019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4727;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1523P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-62;refseq.start=230628019;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr1 230630920 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=10.57;MQ=98.62;MQ0=0;OQ=6407.04;QD=19.90;RankSumP=0.446958;SB=-2636.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4270A>T;refseq.codonCoord=1424;refseq.end=230630920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4428;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1424L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=14;refseq.start=230630920;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 230634671 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4201A>G;refseq.codonCoord=1401;refseq.end=230634671;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4359;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1401E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-56;refseq.start=230634671;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr1 230641544 . T C 219.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.61;MQ0=0;OQ=6793.82;QD=34.14;RankSumP=1.00000;SB=-2836.70;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3964A>G;refseq.codonCoord=1322;refseq.end=230641544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4122;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1322A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-68;refseq.start=230641544;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr1 230648059 . G A 275.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=1071.67;QD=34.57;RankSumP=1.00000;SB=-555.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3192C>T;refseq.codonCoord=1064;refseq.end=230648059;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3350;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1064T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=97;refseq.start=230648059;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 230717373 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=641;Dels=0.00;HRun=1;HaplotypeScore=10.85;MQ=98.80;MQ0=0;OQ=24490.00;QD=38.21;RankSumP=1.00000;SB=-10328.78;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.336T>C;refseq.codonCoord=112;refseq.end=230717373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S112S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=494;refseq.start=230717373;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 230717490 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=2;HaplotypeScore=50.26;MQ=97.11;MQ0=0;OQ=13917.10;QD=38.02;RankSumP=1.00000;SB=-6405.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.219G>A;refseq.codonCoord=73;refseq.end=230717490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K73K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=377;refseq.start=230717490;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/1 chr1 230717526 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.183T>G;refseq.codonCoord=61;refseq.end=230717526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_020808;refseq.name2=SIPA1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G61G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=341;refseq.start=230717526;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 231153079 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=98.44;MQ0=0;OQ=1465.04;QD=12.96;RankSumP=0.0261275;SB=-725.64;SecondBestBaseQ=31;refseq.chr=chr1;refseq.codingCoordStr=c.-1T>C;refseq.end=231153079;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=87;refseq.name=NM_032324;refseq.name2=C1orf57;refseq.positionType=utr5;refseq.spliceDist=-35;refseq.start=231153079;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr1 231564649 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=5696.94;QD=19.85;RankSumP=0.245745;SB=-2405.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1539C>T;refseq.codonCoord=513;refseq.end=231564649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_032435;refseq.name2=KIAA1804;refseq.positionType=CDS;refseq.proteinCoordStr=p.I513I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-14;refseq.start=231564649;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 231581749 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2374T>C;refseq.codonCoord=792;refseq.end=231581749;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2635;refseq.name=NM_032435;refseq.name2=KIAA1804;refseq.positionType=CDS;refseq.proteinCoordStr=p.S792P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-331;refseq.start=231581749;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 232107940 . C T 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.45;MQ0=0;OQ=269.20;QD=8.41;RankSumP=0.616965;SB=-112.93;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.96C>T;refseq.codonCoord=32;refseq.end=232107940;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_173508;refseq.name2=SLC35F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S32S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=43;refseq.start=232107940;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr1 232108045 . G C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.23;MQ0=0;OQ=2320.44;QD=38.04;RankSumP=1.00000;SB=-1035.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.201G>C;refseq.codonCoord=67;refseq.end=232108045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_173508;refseq.name2=SLC35F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P67P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-83;refseq.start=232108045;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr1 232519032 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.890A>C;refseq.codonCoord=297;refseq.end=232519032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_173508;refseq.name2=SLC35F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H297P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=62;refseq.start=232519032;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr1 232596175 . C T 235.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=2586.16;QD=21.20;RankSumP=0.155198;SB=-777.70;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4275G>A;refseq.codonCoord=1425;refseq.end=232596175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4275;refseq.name=NM_005646;refseq.name2=TARBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1425A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=32;refseq.start=232596175;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr1 232596193 . G A 111.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.66;MQ0=0;OQ=2194.04;QD=19.77;RankSumP=0.304840;SB=-567.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4257C>T;refseq.codonCoord=1419;refseq.end=232596193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4257;refseq.name=NM_005646;refseq.name2=TARBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1419V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=14;refseq.start=232596193;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 232612868 . C T 153.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.78;MQ0=0;OQ=2008.91;QD=13.57;RankSumP=0.346202;SB=-917.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3738G>A;refseq.codonCoord=1246;refseq.end=232612868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3738;refseq.name=NM_005646;refseq.name2=TARBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1246T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=33;refseq.start=232612868;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr1 232649274 . T C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=573;Dels=0.00;HRun=1;HaplotypeScore=12.83;MQ=98.98;MQ0=0;OQ=23309.75;QD=40.68;RankSumP=1.00000;SB=-10894.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2032A>G;refseq.codonCoord=678;refseq.end=232649274;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2032;refseq.name=NM_005646;refseq.name2=TARBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S678G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=71;refseq.start=232649274;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 232650854 . C T 159.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=6.95;MQ=98.07;MQ0=0;OQ=2630.88;QD=38.13;RankSumP=1.00000;SB=-481.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1956G>A;refseq.codonCoord=652;refseq.end=232650854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_005646;refseq.name2=TARBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q652Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=232650854;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr1 232810873 . G A 203.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=98.97;MQ0=0;OQ=1678.96;QD=15.99;RankSumP=0.198273;SB=-859.32;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.991C>T;refseq.codingCoordStr_2=c.991C>T;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=232810873;refseq.end_2=232810873;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=1022;refseq.name2_1=IRF2BP2;refseq.name2_2=IRF2BP2;refseq.name_1=NM_001077397;refseq.name_2=NM_182972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L331L;refseq.proteinCoordStr_2=p.L331L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-58;refseq.spliceInfo_1=splice-donor_-10;refseq.start_1=232810873;refseq.start_2=232810873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr1 232811036 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.78;MQ0=0;OQ=251.60;QD=11.44;RankSumP=0.668599;SB=-10.00;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.828G>T;refseq.codingCoordStr_2=c.828G>T;refseq.codonCoord_1=276;refseq.codonCoord_2=276;refseq.end_1=232811036;refseq.end_2=232811036;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=859;refseq.mrnaCoord_2=859;refseq.name2_1=IRF2BP2;refseq.name2_2=IRF2BP2;refseq.name_1=NM_001077397;refseq.name_2=NM_182972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A276A;refseq.proteinCoordStr_2=p.A276A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-173;refseq.spliceDist_2=-221;refseq.start_1=232811036;refseq.start_2=232811036;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr1 232811103 . G A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.595238;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.761C>T;refseq.codingCoordStr_2=c.761C>T;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.end_1=232811103;refseq.end_2=232811103;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=792;refseq.name2_1=IRF2BP2;refseq.name2_2=IRF2BP2;refseq.name_1=NM_001077397;refseq.name_2=NM_182972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A254V;refseq.proteinCoordStr_2=p.A254V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-240;refseq.spliceDist_2=-288;refseq.start_1=232811103;refseq.start_2=232811103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr1 233390921 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=14.77;MQ=98.22;MQ0=0;OQ=2624.80;QD=15.17;RankSumP=0.131588;SB=-913.58;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_2=c.138A>G;refseq.codingCoordStr_3=c.138A>G;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=233390921;refseq.end_2=233390921;refseq.end_3=233390921;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=168;refseq.mrnaCoord_2=168;refseq.mrnaCoord_3=168;refseq.name2_1=RBM34;refseq.name2_2=RBM34;refseq.name2_3=RBM34;refseq.name_1=NR_027762;refseq.name_2=NM_001161533;refseq.name_3=NM_015014;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E46E;refseq.proteinCoordStr_3=p.E46E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.spliceDist_3=85;refseq.start_1=233390921;refseq.start_2=233390921;refseq.start_3=233390921;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr1 233407785 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=646;Dels=0.00;HRun=4;HaplotypeScore=75.29;MQ=98.18;MQ0=0;OQ=1089.83;QD=1.69;RankSumP=0.00453582;SB=595.02;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.3401G>A;refseq.codingCoordStr_2=c.3143G>A;refseq.codonCoord_1=1134;refseq.codonCoord_2=1048;refseq.end_1=233407785;refseq.end_2=233407785;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3899;refseq.mrnaCoord_2=3641;refseq.name2_1=ARID4B;refseq.name2_2=ARID4B;refseq.name_1=NM_016374;refseq.name_2=NM_031371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1134K;refseq.proteinCoordStr_2=p.R1048K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=233407785;refseq.start_2=233407785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr1 233449811 . A G 425.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7814.80;QD=38.88;RankSumP=1.00000;SB=-1774.38;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1503T>C;refseq.codingCoordStr_2=c.1503T>C;refseq.codonCoord_1=501;refseq.codonCoord_2=501;refseq.end_1=233449811;refseq.end_2=233449811;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2001;refseq.mrnaCoord_2=2001;refseq.name2_1=ARID4B;refseq.name2_2=ARID4B;refseq.name_1=NM_016374;refseq.name_2=NM_031371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D501D;refseq.proteinCoordStr_2=p.D501D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=233449811;refseq.start_2=233449811;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr1 233459169 . T C 188.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3771.29;QD=41.90;RankSumP=1.00000;SB=-1208.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.897A>G;refseq.codingCoordStr_2=c.897A>G;refseq.codonCoord_1=299;refseq.codonCoord_2=299;refseq.end_1=233459169;refseq.end_2=233459169;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1395;refseq.mrnaCoord_2=1395;refseq.name2_1=ARID4B;refseq.name2_2=ARID4B;refseq.name_1=NM_016374;refseq.name_2=NM_031371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E299E;refseq.proteinCoordStr_2=p.E299E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=233459169;refseq.start_2=233459169;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr1 233680263 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1384T>G;refseq.codonCoord=462;refseq.end=233680263;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1613;refseq.name=NM_152490;refseq.name2=B3GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C462G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=16;refseq.start=233680263;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 233684206 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.30520e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1196A>G;refseq.codonCoord=399;refseq.end=233684206;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_152490;refseq.name2=B3GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E399G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=45;refseq.start=233684206;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 233719136 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=708;Dels=0.00;HRun=1;HaplotypeScore=17.75;MQ=98.96;MQ0=0;OQ=13043.35;QD=18.42;RankSumP=0.449970;SB=-4089.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.321A>G;refseq.codonCoord=107;refseq.end=233719136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_152490;refseq.name2=B3GALNT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E107E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-41;refseq.start=233719136;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr1 233782146 . A G 257.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.79;MQ0=0;OQ=5509.55;QD=36.25;RankSumP=1.00000;SB=-2648.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.114T>C;refseq.codingCoordStr_2=c.114T>C;refseq.codingCoordStr_3=c.114T>C;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.end_1=233782146;refseq.end_2=233782146;refseq.end_3=233782146;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=442;refseq.mrnaCoord_2=568;refseq.mrnaCoord_3=330;refseq.name2_1=GNG4;refseq.name2_2=GNG4;refseq.name2_3=GNG4;refseq.name_1=NM_001098721;refseq.name_2=NM_001098722;refseq.name_3=NM_004485;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A38A;refseq.proteinCoordStr_2=p.A38A;refseq.proteinCoordStr_3=p.A38A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=233782146;refseq.start_2=233782146;refseq.start_3=233782146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr1 233892908 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.11361A>C;refseq.codonCoord=3787;refseq.end=233892908;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11536;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.K3787N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=94;refseq.start=233892908;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr1 233981276 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=166;Dels=0.00;HRun=1;HaplotypeScore=21.63;MQ=97.26;MQ0=0;OQ=118.36;QD=0.71;RankSumP=0.00000;SB=164.56;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.7637T>G;refseq.codonCoord=2546;refseq.end=233981276;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7812;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2546G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=233981276;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 234007073 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.92;MQ0=0;OQ=5393.14;QD=21.07;RankSumP=0.397974;SB=-1374.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5373G>A;refseq.codonCoord=1791;refseq.end=234007073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5548;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1791K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-88;refseq.start=234007073;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr1 234011917 . T C 356.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=98.83;MQ0=0;OQ=5666.67;QD=20.38;RankSumP=0.464131;SB=-2150.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.4956A>G;refseq.codonCoord=1652;refseq.end=234011917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5131;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1652L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-68;refseq.start=234011917;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 234021795 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=475;Dels=0.00;HRun=2;HaplotypeScore=47.52;MQ=98.51;MQ0=0;OQ=186.01;QD=0.39;RankSumP=0.00000;SB=561.59;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4370A>C;refseq.codonCoord=1457;refseq.end=234021795;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4545;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1457P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-174;refseq.start=234021795;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 234039058 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=25.27;MQ=98.86;MQ0=0;OQ=12624.29;QD=22.11;RankSumP=0.0233794;SB=-3781.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1683A>G;refseq.codonCoord=561;refseq.end=234039058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1858;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.L561L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-681;refseq.start=234039058;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr1 234039490 . T C 230.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=354;Dels=0.00;HRun=0;HaplotypeScore=8.11;MQ=98.68;MQ0=0;OQ=7449.22;QD=21.04;RankSumP=0.321676;SB=-2977.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1251A>G;refseq.codonCoord=417;refseq.end=234039490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1426;refseq.name=NM_000081;refseq.name2=LYST;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q417Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=968;refseq.start=234039490;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr1 234207797 . T C 199.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=2.85;MQ=98.14;MQ0=0;OQ=5457.90;QD=16.59;RankSumP=0.165807;SB=-2052.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3737A>G;refseq.codonCoord=1246;refseq.end=234207797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3839;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1246R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=115;refseq.start=234207797;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr1 234207843 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3691A>C;refseq.codonCoord=1231;refseq.end=234207843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3793;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1231P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=69;refseq.start=234207843;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr1 234211574 . A G 203.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=2.87;MQ=98.56;MQ0=0;OQ=3065.22;QD=20.30;RankSumP=0.235552;SB=-1088.91;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3187T>C;refseq.codonCoord=1063;refseq.end=234211574;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3289;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1063L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-41;refseq.start=234211574;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr1 234220809 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=287;Dels=0.00;HRun=0;HaplotypeScore=6.26;MQ=98.61;MQ0=0;OQ=4790.58;QD=16.69;RankSumP=0.300317;SB=-1465.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2928G>A;refseq.codonCoord=976;refseq.end=234220809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3030;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P976P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=234220809;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr1 234241962 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=38.35;MQ=97.90;MQ0=0;OQ=2686.34;QD=12.67;RankSumP=0.315768;SB=-168.31;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2409A>G;refseq.codonCoord=803;refseq.end=234241962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2511;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V803V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=234241962;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 234275396 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=4026.04;QD=20.54;RankSumP=0.425403;SB=-385.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.736G>A;refseq.codonCoord=246;refseq.end=234275396;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_002508;refseq.name2=NID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V246I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-17;refseq.start=234275396;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr1 234448448 . G C 218.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=99.00;MQ0=0;OQ=1778.59;QD=15.07;RankSumP=0.364517;SB=-486.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1395C>G;refseq.codonCoord=465;refseq.end=234448448;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1651;refseq.name=NM_019891;refseq.name2=ERO1LB;refseq.positionType=CDS;refseq.proteinCoordStr=p.H465Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=52;refseq.start=234448448;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr1 234479853 . T A 127.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=2;HaplotypeScore=6.01;MQ=98.86;MQ0=0;OQ=3081.91;QD=15.89;RankSumP=0.0463111;SB=-1317.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.386A>T;refseq.codonCoord=129;refseq.end=234479853;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_019891;refseq.name2=ERO1LB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D129V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=38;refseq.start=234479853;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 234624394 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=706;Dels=0.00;HRun=0;HaplotypeScore=14.65;MQ=98.82;MQ0=0;OQ=13691.18;QD=19.39;RankSumP=0.0726915;SB=-5564.04;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.27G>A;refseq.codonCoord=9;refseq.end=234624394;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=92;refseq.name=NM_145861;refseq.name2=EDARADD;refseq.positionType=CDS;refseq.proteinCoordStr=p.M9I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-35;refseq.start=234624394;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 234767430 . T A 208.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=97.73;MQ0=0;OQ=6230.60;QD=38.94;RankSumP=1.00000;SB=-1334.26;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.56T>A;refseq.codingCoordStr_2=c.56T>A;refseq.codingCoordStr_3=c.56T>A;refseq.codingCoordStr_4=c.56T>A;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.codonCoord_3=19;refseq.codonCoord_4=19;refseq.end_1=234767430;refseq.end_2=234767430;refseq.end_3=234767430;refseq.end_4=234767430;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=437;refseq.mrnaCoord_2=437;refseq.mrnaCoord_3=444;refseq.mrnaCoord_4=256;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F19Y;refseq.proteinCoordStr_2=p.F19Y;refseq.proteinCoordStr_3=p.F19Y;refseq.proteinCoordStr_4=p.F19Y;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.start_1=234767430;refseq.start_2=234767430;refseq.start_3=234767430;refseq.start_4=234767430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 1/1 chr1 234767446 . T C 103.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=2;HaplotypeScore=3.10;MQ=97.83;MQ0=0;OQ=6718.33;QD=39.75;RankSumP=1.00000;SB=-1997.91;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.72T>C;refseq.codingCoordStr_2=c.72T>C;refseq.codingCoordStr_3=c.72T>C;refseq.codingCoordStr_4=c.72T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.codonCoord_3=24;refseq.codonCoord_4=24;refseq.end_1=234767446;refseq.end_2=234767446;refseq.end_3=234767446;refseq.end_4=234767446;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=453;refseq.mrnaCoord_2=453;refseq.mrnaCoord_3=460;refseq.mrnaCoord_4=272;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P24P;refseq.proteinCoordStr_2=p.P24P;refseq.proteinCoordStr_3=p.P24P;refseq.proteinCoordStr_4=p.P24P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=234767446;refseq.start_2=234767446;refseq.start_3=234767446;refseq.start_4=234767446;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/1 chr1 234767480 . C T 319.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.33;MQ0=0;OQ=9422.23;QD=42.83;RankSumP=1.00000;SB=-4157.34;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.106C>T;refseq.codingCoordStr_2=c.106C>T;refseq.codingCoordStr_3=c.106C>T;refseq.codingCoordStr_4=c.106C>T;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.codonCoord_3=36;refseq.codonCoord_4=36;refseq.end_1=234767480;refseq.end_2=234767480;refseq.end_3=234767480;refseq.end_4=234767480;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=487;refseq.mrnaCoord_2=487;refseq.mrnaCoord_3=494;refseq.mrnaCoord_4=306;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R36C;refseq.proteinCoordStr_2=p.R36C;refseq.proteinCoordStr_3=p.R36C;refseq.proteinCoordStr_4=p.R36C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.start_1=234767480;refseq.start_2=234767480;refseq.start_3=234767480;refseq.start_4=234767480;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=Intersection GT 1/1 chr1 234768832 . C T 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=6.37;MQ=97.31;MQ0=0;OQ=1377.66;QD=23.75;RankSumP=1.00000;SB=-176.29;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.165C>T;refseq.codingCoordStr_2=c.165C>T;refseq.codingCoordStr_3=c.165C>T;refseq.codingCoordStr_4=c.165C>T;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.codonCoord_3=55;refseq.codonCoord_4=55;refseq.end_1=234768832;refseq.end_2=234768832;refseq.end_3=234768832;refseq.end_4=234768832;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=546;refseq.mrnaCoord_2=546;refseq.mrnaCoord_3=553;refseq.mrnaCoord_4=365;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S55S;refseq.proteinCoordStr_2=p.S55S;refseq.proteinCoordStr_3=p.S55S;refseq.proteinCoordStr_4=p.S55S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=234768832;refseq.start_2=234768832;refseq.start_3=234768832;refseq.start_4=234768832;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/1 chr1 234768833 . A G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=97.25;MQ0=0;OQ=1446.35;QD=25.83;RankSumP=1.00000;SB=-114.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.166A>G;refseq.codingCoordStr_2=c.166A>G;refseq.codingCoordStr_3=c.166A>G;refseq.codingCoordStr_4=c.166A>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.codonCoord_4=56;refseq.end_1=234768833;refseq.end_2=234768833;refseq.end_3=234768833;refseq.end_4=234768833;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=547;refseq.mrnaCoord_2=547;refseq.mrnaCoord_3=554;refseq.mrnaCoord_4=366;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M56V;refseq.proteinCoordStr_2=p.M56V;refseq.proteinCoordStr_3=p.M56V;refseq.proteinCoordStr_4=p.M56V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.spliceDist_4=32;refseq.start_1=234768833;refseq.start_2=234768833;refseq.start_3=234768833;refseq.start_4=234768833;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 1/1 chr1 234768997 . G A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=98.93;MQ0=0;OQ=9771.50;QD=42.67;RankSumP=1.00000;SB=-3976.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.330G>A;refseq.codingCoordStr_2=c.330G>A;refseq.codingCoordStr_3=c.330G>A;refseq.codingCoordStr_4=c.330G>A;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.codonCoord_3=110;refseq.codonCoord_4=110;refseq.end_1=234768997;refseq.end_2=234768997;refseq.end_3=234768997;refseq.end_4=234768997;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=711;refseq.mrnaCoord_2=711;refseq.mrnaCoord_3=718;refseq.mrnaCoord_4=530;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L110L;refseq.proteinCoordStr_2=p.L110L;refseq.proteinCoordStr_3=p.L110L;refseq.proteinCoordStr_4=p.L110L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.start_1=234768997;refseq.start_2=234768997;refseq.start_3=234768997;refseq.start_4=234768997;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=Intersection GT 1/1 chr1 234773485 . G C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=17.25;MQ=98.61;MQ0=0;OQ=10087.79;QD=43.11;RankSumP=1.00000;SB=-3324.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.678G>C;refseq.codingCoordStr_2=c.552G>C;refseq.codingCoordStr_3=c.552G>C;refseq.codingCoordStr_4=c.678G>C;refseq.codonCoord_1=226;refseq.codonCoord_2=184;refseq.codonCoord_3=184;refseq.codonCoord_4=226;refseq.end_1=234773485;refseq.end_2=234773485;refseq.end_3=234773485;refseq.end_4=234773485;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1059;refseq.mrnaCoord_2=933;refseq.mrnaCoord_3=940;refseq.mrnaCoord_4=878;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R226S;refseq.proteinCoordStr_2=p.R184S;refseq.proteinCoordStr_3=p.R184S;refseq.proteinCoordStr_4=p.R226S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.start_1=234773485;refseq.start_2=234773485;refseq.start_3=234773485;refseq.start_4=234773485;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/1 chr1 234777946 . T C 301.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=98.75;MQ0=0;OQ=10031.55;QD=42.33;RankSumP=1.00000;SB=-5002.65;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.codingCoordStr_1=c.942T>C;refseq.codingCoordStr_2=c.816T>C;refseq.codingCoordStr_3=c.816T>C;refseq.codingCoordStr_4=c.942T>C;refseq.codonCoord_1=314;refseq.codonCoord_2=272;refseq.codonCoord_3=272;refseq.codonCoord_4=314;refseq.end_1=234777946;refseq.end_2=234777946;refseq.end_3=234777946;refseq.end_4=234777946;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1323;refseq.mrnaCoord_2=1197;refseq.mrnaCoord_3=1204;refseq.mrnaCoord_4=1142;refseq.name2_1=LGALS8;refseq.name2_2=LGALS8;refseq.name2_3=LGALS8;refseq.name2_4=LGALS8;refseq.name_1=NM_006499;refseq.name_2=NM_201543;refseq.name_3=NM_201544;refseq.name_4=NM_201545;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y314Y;refseq.proteinCoordStr_2=p.Y272Y;refseq.proteinCoordStr_3=p.Y272Y;refseq.proteinCoordStr_4=p.Y314Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.start_1=234777946;refseq.start_2=234777946;refseq.start_3=234777946;refseq.start_4=234777946;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 1/1 chr1 234780915 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=18;RankSumP=2.54536e-08;SecondBestBaseQ=18;refseq.chr=chr1;refseq.codingCoordStr=c.6347-2;refseq.end=234780915;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=234780915;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr1 234783582 . C T 274.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.95;MQ0=0;OQ=12692.72;QD=42.31;RankSumP=1.00000;SB=-6153.70;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.6159G>A;refseq.codonCoord=2053;refseq.end=234783582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6284;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2053S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-79;refseq.start=234783582;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr1 234784549 . T C 230.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=354;Dels=0.00;HRun=1;HaplotypeScore=7.26;MQ=98.80;MQ0=0;OQ=14437.64;QD=40.78;RankSumP=1.00000;SB=-5763.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6050A>G;refseq.codonCoord=2017;refseq.end=234784549;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6175;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2017G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-29;refseq.start=234784549;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 234785243 . T C 268.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2297.49;QD=38.29;RankSumP=1.00000;SB=-696.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5899A>G;refseq.codonCoord=1967;refseq.end=234785243;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6024;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1967D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-25;refseq.start=234785243;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 234785758 . T C 159.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2881.24;QD=39.47;RankSumP=1.00000;SB=-362.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5619A>G;refseq.codonCoord=1873;refseq.end=234785758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5744;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1873E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-31;refseq.start=234785758;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr1 234785816 . A G 278.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=9.55;MQ=98.80;MQ0=0;OQ=11246.39;QD=37.12;RankSumP=1.00000;SB=-3649.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5561T>C;refseq.codonCoord=1854;refseq.end=234785816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5686;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1854A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=47;refseq.start=234785816;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 234788233 . G A 316.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=2.71;MQ=98.96;MQ0=0;OQ=12733.47;QD=42.30;RankSumP=1.00000;SB=-4521.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5131C>T;refseq.codonCoord=1711;refseq.end=234788233;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5256;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1711L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-74;refseq.start=234788233;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 234788283 . T C 137.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=98.86;MQ0=0;OQ=21461.00;QD=41.67;RankSumP=1.00000;SB=-9423.78;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.5081A>G;refseq.codonCoord=1694;refseq.end=234788283;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5206;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1694S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-124;refseq.start=234788283;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 234788354 . T C 111.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=0;HaplotypeScore=14.56;MQ=98.79;MQ0=0;OQ=14786.45;QD=37.43;RankSumP=1.00000;SB=-5639.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.5010A>G;refseq.codonCoord=1670;refseq.end=234788354;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5135;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1670A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=99;refseq.start=234788354;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 234804238 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3346G>C;refseq.codonCoord=1116;refseq.end=234804238;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3471;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1116P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=19;refseq.start=234804238;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr1 234811335 . C A 177.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.99;MQ0=0;OQ=716.46;QD=35.82;RankSumP=1.00000;SB=-127.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2565G>T;refseq.codonCoord=855;refseq.end=234811335;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2690;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V855V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=234811335;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr1 234813066 . C T 410.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=3578.18;QD=42.60;RankSumP=1.00000;SB=-1582.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2295G>A;refseq.codonCoord=765;refseq.end=234813066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2420;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V765V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=54;refseq.start=234813066;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr1 234815128 . T C 246.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=10.33;MQ=98.55;MQ0=0;OQ=16632.86;QD=42.87;RankSumP=1.00000;SB=-5332.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2061A>G;refseq.codonCoord=687;refseq.end=234815128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2186;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L687L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=12;refseq.start=234815128;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr1 234816272 . T C 209.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=16658.55;QD=41.44;RankSumP=1.00000;SB=-6459.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1819A>G;refseq.codonCoord=607;refseq.end=234816272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1944;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M607V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=104;refseq.start=234816272;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 234822460 . C T 369.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=2046.27;QD=41.76;RankSumP=1.00000;SB=-776.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1290G>A;refseq.codonCoord=430;refseq.end=234822460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1415;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R430R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-15;refseq.start=234822460;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr1 234825510 . T C 257.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.97;MQ0=0;OQ=12115.25;QD=38.22;RankSumP=1.00000;SB=-4880.78;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1043A>G;refseq.codonCoord=348;refseq.end=234825510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H348R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-48;refseq.start=234825510;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr1 234833953 . A G 310.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=6.42;MQ=98.30;MQ0=0;OQ=10232.49;QD=38.61;RankSumP=1.00000;SB=-3665.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=234833953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_018072;refseq.name2=HEATR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S22S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-77;refseq.start=234833953;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 234948926 . T C 301.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.78;MQ0=0;OQ=8023.69;QD=36.64;RankSumP=1.00000;SB=-3628.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.351T>C;refseq.codonCoord=117;refseq.end=234948926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_001103;refseq.name2=ACTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I117I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-11;refseq.start=234948926;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr1 234950044 . C T 216.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=98.92;MQ0=0;OQ=16080.80;QD=42.77;RankSumP=1.00000;SB=-6003.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.378C>T;refseq.codonCoord=126;refseq.end=234950044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_001103;refseq.name2=ACTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N126N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=17;refseq.start=234950044;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr1 235059154 . A C 19.52 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=745;Dels=0.00;HRun=2;HaplotypeScore=47.43;MQ=98.50;MQ0=0;QD=0.03;SB=1232.90;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1038A>C;refseq.codonCoord=346;refseq.end=235059154;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_000254;refseq.name2=MTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P346P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-38;refseq.start=235059154;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:462,283:499:-155.53,-150.30,-1676.88:52.31 chr1 238322206 . C G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.251748;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.174C>G;refseq.codonCoord=58;refseq.end=238322206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G58G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=399;refseq.start=238322206;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 238323445 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=96.21;MQ0=0;OQ=647.82;QD=17.05;RankSumP=0.139535;SB=-10.00;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1413C>A;refseq.codonCoord=471;refseq.end=238323445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1638;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A471A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-203;refseq.start=238323445;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr1 238437252 . C G 162.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=20.09;MQ=97.88;MQ0=0;OQ=4307.35;QD=18.98;RankSumP=0.0210361;SB=-1715.96;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2517C>G;refseq.codonCoord=839;refseq.end=238437252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2742;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T839T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=531;refseq.start=238437252;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr1 238437729 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=16.98;MQ=24.52;MQ0=33;OQ=455.69;QD=5.30;RankSumP=0.431968;SB=-169.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.2994C>T;refseq.codonCoord=998;refseq.end=238437729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3219;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P998P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-927;refseq.start=238437729;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 238437846 . C T 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=83;Dels=0.00;HRun=0;HaplotypeScore=11.48;MQ=21.01;MQ0=59;OQ=218.38;QD=2.63;RankSumP=0.736305;SB=-110.61;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3111C>T;refseq.codonCoord=1037;refseq.end=238437846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3336;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1037P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-810;refseq.start=238437846;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr1 238437951 . G A 10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=83;Dels=0.00;HRun=0;HaplotypeScore=15.75;MQ=17.23;MQ0=68;OQ=71.77;QD=0.86;RankSumP=0.166667;SB=-6.99;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.3216G>A;refseq.codonCoord=1072;refseq.end=238437951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3441;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1072A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-705;refseq.start=238437951;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr1 238438177 . A G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=32.08;MQ0=28;OQ=84.45;QD=2.56;RankSumP=1.00000;SB=-48.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.3442A>G;refseq.codonCoord=1148;refseq.end=238438177;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3667;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1148G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-479;refseq.start=238438177;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr1 238559357 . G A 232.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=17.99;MQ=98.90;MQ0=0;OQ=7510.58;QD=20.58;RankSumP=0.203341;SB=-2891.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.4403G>A;refseq.codonCoord=1468;refseq.end=238559357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4628;refseq.name=NM_020066;refseq.name2=FMN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1468H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-35;refseq.start=238559357;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr1 239778757 . C T 272.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=3740.98;QD=40.23;RankSumP=1.00000;SB=-720.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.60C>T;refseq.codonCoord=20;refseq.end=239778757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_003679;refseq.name2=KMO;refseq.positionType=CDS;refseq.proteinCoordStr=p.G20G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=239778757;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr1 239821971 . C T 343.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=11.94;MQ=98.91;MQ0=0;OQ=10489.07;QD=20.06;RankSumP=0.407361;SB=-2540.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1354C>T;refseq.codonCoord=452;refseq.end=239821971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1419;refseq.name=NM_003679;refseq.name2=KMO;refseq.positionType=CDS;refseq.proteinCoordStr=p.R452C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=94;refseq.start=239821971;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr1 240087357 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.493C>A;refseq.codingCoordStr_2=c.493C>A;refseq.codingCoordStr_3=c.493C>A;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.codonCoord_3=165;refseq.end_1=240087357;refseq.end_2=240087357;refseq.end_3=240087357;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=807;refseq.mrnaCoord_3=1075;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q165K;refseq.proteinCoordStr_2=p.Q165K;refseq.proteinCoordStr_3=p.Q165K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=240087357;refseq.start_2=240087357;refseq.start_3=240087357;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 1/0 chr1 240090521 . A G 297.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=478;Dels=0.00;HRun=0;HaplotypeScore=14.15;MQ=98.87;MQ0=0;OQ=9079.57;QD=18.99;RankSumP=0.166102;SB=-3121.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.836A>G;refseq.codingCoordStr_2=c.836A>G;refseq.codingCoordStr_3=c.836A>G;refseq.codonCoord_1=279;refseq.codonCoord_2=279;refseq.codonCoord_3=279;refseq.end_1=240090521;refseq.end_2=240090521;refseq.end_3=240090521;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1150;refseq.mrnaCoord_2=1150;refseq.mrnaCoord_3=1418;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N279S;refseq.proteinCoordStr_2=p.N279S;refseq.proteinCoordStr_3=p.N279S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=240090521;refseq.start_2=240090521;refseq.start_3=240090521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr1 240096774 . A G 375.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.88;MQ0=0;OQ=13160.26;QD=38.15;RankSumP=1.00000;SB=-3843.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1061A>G;refseq.codingCoordStr_2=c.1061A>G;refseq.codingCoordStr_3=c.1061A>G;refseq.codonCoord_1=354;refseq.codonCoord_2=354;refseq.codonCoord_3=354;refseq.end_1=240096774;refseq.end_2=240096774;refseq.end_3=240096774;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1375;refseq.mrnaCoord_2=1375;refseq.mrnaCoord_3=1643;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H354R;refseq.proteinCoordStr_2=p.H354R;refseq.proteinCoordStr_3=p.H354R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=240096774;refseq.start_2=240096774;refseq.start_3=240096774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr1 240102061 . G A 142.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=2;HaplotypeScore=4.86;MQ=98.78;MQ0=0;OQ=2882.34;QD=16.76;RankSumP=0.380541;SB=-1406.37;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.1372G>A;refseq.codingCoordStr_2=c.1372G>A;refseq.codingCoordStr_3=c.1372G>A;refseq.codonCoord_1=458;refseq.codonCoord_2=458;refseq.codonCoord_3=458;refseq.end_1=240102061;refseq.end_2=240102061;refseq.end_3=240102061;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1686;refseq.mrnaCoord_2=1686;refseq.mrnaCoord_3=1954;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V458M;refseq.proteinCoordStr_2=p.V458M;refseq.proteinCoordStr_3=p.V458M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.spliceDist_3=105;refseq.start_1=240102061;refseq.start_2=240102061;refseq.start_3=240102061;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr1 240109168 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6939.53;QD=42.31;RankSumP=1.00000;SB=-2291.59;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2009A>G;refseq.codingCoordStr_2=c.2009A>G;refseq.codingCoordStr_3=c.2009A>G;refseq.codonCoord_1=670;refseq.codonCoord_2=670;refseq.codonCoord_3=670;refseq.end_1=240109168;refseq.end_2=240109168;refseq.end_3=240109168;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2323;refseq.mrnaCoord_2=2323;refseq.mrnaCoord_3=2591;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E670G;refseq.proteinCoordStr_2=p.E670G;refseq.proteinCoordStr_3=p.E670G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.spliceDist_3=-101;refseq.start_1=240109168;refseq.start_2=240109168;refseq.start_3=240109168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/1 chr1 240111898 . C T 331.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.81;MQ0=0;OQ=10394.30;QD=43.31;RankSumP=1.00000;SB=-4200.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2167C>T;refseq.codingCoordStr_2=c.2167C>T;refseq.codingCoordStr_3=c.2167C>T;refseq.codonCoord_1=723;refseq.codonCoord_2=723;refseq.codonCoord_3=723;refseq.end_1=240111898;refseq.end_2=240111898;refseq.end_3=240111898;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2481;refseq.mrnaCoord_2=2481;refseq.mrnaCoord_3=2749;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R723C;refseq.proteinCoordStr_2=p.R723C;refseq.proteinCoordStr_3=p.R723C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=240111898;refseq.start_2=240111898;refseq.start_3=240111898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/1 chr1 240115297 . C T 99.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=4.49;MQ=98.48;MQ0=0;OQ=1320.92;QD=14.05;RankSumP=0.263765;SB=-335.82;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.codingCoordStr_1=c.2270C>T;refseq.codingCoordStr_2=c.2270C>T;refseq.codingCoordStr_3=c.2270C>T;refseq.codonCoord_1=757;refseq.codonCoord_2=757;refseq.codonCoord_3=757;refseq.end_1=240115297;refseq.end_2=240115297;refseq.end_3=240115297;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2584;refseq.mrnaCoord_2=2584;refseq.mrnaCoord_3=2852;refseq.name2_1=EXO1;refseq.name2_2=EXO1;refseq.name2_3=EXO1;refseq.name_1=NM_003686;refseq.name_2=NM_006027;refseq.name_3=NM_130398;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P757L;refseq.proteinCoordStr_2=p.P757L;refseq.proteinCoordStr_3=p.P757L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=240115297;refseq.start_2=240115297;refseq.start_3=240115297;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 0/1 chr1 240495323 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.376557;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.270A>G;refseq.codonCoord=90;refseq.end=240495323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=780;refseq.name=NM_152666;refseq.name2=PLD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E90E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=51;refseq.start=240495323;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr1 240495344 . C T 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.542857;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.249G>A;refseq.codonCoord=83;refseq.end=240495344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_152666;refseq.name2=PLD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q83Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=30;refseq.start=240495344;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr1 240518299 . T C 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.289914;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.207A>G;refseq.codonCoord=69;refseq.end=240518299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_152666;refseq.name2=PLD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P69P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-13;refseq.start=240518299;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 1/0 chr1 240578027 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.360715;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.47A>G;refseq.codonCoord=16;refseq.end=240578027;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_152666;refseq.name2=PLD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K16R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=240578027;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr1 240578032 . G A 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.438455;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.42C>T;refseq.codonCoord=14;refseq.end=240578032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_152666;refseq.name2=PLD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V14V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=240578032;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 1/0 chr1 241560511 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=138;Dels=0.00;HRun=2;HaplotypeScore=6.00;MQ=97.55;MQ0=0;OQ=128.22;QD=0.93;RankSumP=0.00000;SB=254.89;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1115C>G;refseq.codonCoord=372;refseq.end=241560511;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1271;refseq.name=NM_006642;refseq.name2=SDCCAG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A372G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=47;refseq.start=241560511;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 241560514 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1118A>G;refseq.codonCoord=373;refseq.end=241560514;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_006642;refseq.name2=SDCCAG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E373G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=50;refseq.start=241560514;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr1 241560530 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=16.40;MQ=97.43;MQ0=0;OQ=1885.45;QD=14.18;RankSumP=5.36632e-05;SB=-382.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1134A>T;refseq.codonCoord=378;refseq.end=241560530;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1290;refseq.name=NM_006642;refseq.name2=SDCCAG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E378D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=66;refseq.start=241560530;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 0/1 chr1 241645735 . G A 203.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=98.94;MQ0=0;OQ=3057.16;QD=20.25;RankSumP=0.456588;SB=-1073.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1725G>A;refseq.codonCoord=575;refseq.end=241645735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1881;refseq.name=NM_006642;refseq.name2=SDCCAG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E575E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-20;refseq.start=241645735;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 242647602 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1021T>G;refseq.codonCoord=341;refseq.end=242647602;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1315;refseq.name=NM_001126;refseq.name2=ADSS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L341V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-50;refseq.start=242647602;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr1 242790715 . G A 343.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.70;MQ0=0;OQ=5702.61;QD=21.20;RankSumP=0.349336;SB=-2375.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1152G>A;refseq.codingCoordStr_2=c.1152G>A;refseq.codonCoord_1=384;refseq.codonCoord_2=384;refseq.end_1=242790715;refseq.end_2=242790715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1211;refseq.name2_1=C1orf101;refseq.name2_2=C1orf101;refseq.name_1=NM_001130957;refseq.name_2=NM_173807;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S384S;refseq.proteinCoordStr_2=p.S384S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=123;refseq.spliceDist_2=123;refseq.start_1=242790715;refseq.start_2=242790715;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr1 242802481 . A G 288.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.83;MQ0=0;OQ=4218.57;QD=18.50;RankSumP=2.48023e-08;SB=-1616.85;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1734A>G;refseq.codingCoordStr_2=c.1734A>G;refseq.codonCoord_1=578;refseq.codonCoord_2=578;refseq.end_1=242802481;refseq.end_2=242802481;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1793;refseq.mrnaCoord_2=1793;refseq.name2_1=C1orf101;refseq.name2_2=C1orf101;refseq.name_1=NM_001130957;refseq.name_2=NM_173807;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T578T;refseq.proteinCoordStr_2=p.T578T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-217;refseq.spliceDist_2=-217;refseq.start_1=242802481;refseq.start_2=242802481;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=filterInsoap-gatk GT 0/1 chr1 242823456 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.2256C>G;refseq.codingCoordStr_2=c.2256C>G;refseq.codonCoord_1=752;refseq.codonCoord_2=752;refseq.end_1=242823456;refseq.end_2=242823456;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2315;refseq.mrnaCoord_2=2315;refseq.name2_1=C1orf101;refseq.name2_2=C1orf101;refseq.name_1=NM_001130957;refseq.name_2=NM_173807;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C752W;refseq.proteinCoordStr_2=p.C752W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=242823456;refseq.start_2=242823456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr1 243071961 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.32734e-09;SecondBestBaseQ=10;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.135C>G;refseq.codonCoord_2=45;refseq.end_1=243071961;refseq.end_2=243071961;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3647;refseq.mrnaCoord_2=513;refseq.name2_1=NCRNA00201;refseq.name2_2=FAM36A;refseq.name_1=NR_026778;refseq.name_2=NM_198076;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G45G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-1398;refseq.spliceDist_2=-23;refseq.start_1=243071961;refseq.start_2=243071961;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr1 243089227 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.1033T>G;refseq.codingCoordStr_2=c.1090T>G;refseq.codonCoord_1=345;refseq.codonCoord_2=364;refseq.end_1=243089227;refseq.end_2=243089227;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1251;refseq.mrnaCoord_2=1308;refseq.name2_1=HNRNPU;refseq.name2_2=HNRNPU;refseq.name_1=NM_004501;refseq.name_2=NM_031844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S345A;refseq.proteinCoordStr_2=p.S364A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=243089227;refseq.start_2=243089227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 0/1 chr1 244088564 . T C 277.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=490;Dels=0.00;HRun=0;HaplotypeScore=10.26;MQ=98.71;MQ0=0;OQ=9161.37;QD=18.70;RankSumP=0.414218;SB=-3535.87;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.933A>G;refseq.codingCoordStr_2=c.756A>G;refseq.codonCoord_1=311;refseq.codonCoord_2=252;refseq.end_1=244088564;refseq.end_2=244088564;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=886;refseq.name2_1=SMYD3;refseq.name2_2=SMYD3;refseq.name_1=NM_001167740;refseq.name_2=NM_022743;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A311A;refseq.proteinCoordStr_2=p.A252A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=244088564;refseq.start_2=244088564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr1 244781210 . G A 338.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=97.44;MQ0=0;OQ=5113.61;QD=41.57;RankSumP=1.00000;SB=-1567.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=244781210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_022366;refseq.name2=TFB2M;refseq.positionType=CDS;refseq.proteinCoordStr=p.P241P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=18;refseq.start=244781210;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr1 244787421 . G A 319.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=97.95;MQ0=0;OQ=6695.83;QD=43.20;RankSumP=1.00000;SB=-3020.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.441C>T;refseq.codonCoord=147;refseq.end=244787421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_022366;refseq.name2=TFB2M;refseq.positionType=CDS;refseq.proteinCoordStr=p.I147I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=39;refseq.start=244787421;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr1 244821747 . T C 359.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=3443.82;QD=37.43;RankSumP=1.00000;SB=-694.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_1=c.260T>C;refseq.codingCoordStr_2=c.260T>C;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=244821747;refseq.end_2=244821747;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=764;refseq.mrnaCoord_2=638;refseq.name2_1=CNST;refseq.name2_2=CNST;refseq.name_1=NM_001139459;refseq.name_2=NM_152609;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L87S;refseq.proteinCoordStr_2=p.L87S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=244821747;refseq.start_2=244821747;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr1 245072674 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=699;Dels=0.00;HRun=0;HaplotypeScore=82.23;MQ=97.39;MQ0=2;OQ=15702.53;QD=22.46;RankSumP=0.0414048;SB=-5607.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6580C>G;refseq.codonCoord=2194;refseq.end=245072674;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6677;refseq.name=NM_015446;refseq.name2=AHCTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2194V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=28;refseq.start=245072674;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 0/1 chr1 245079923 . G T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.465368;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.6035C>A;refseq.codonCoord=2012;refseq.end=245079923;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6132;refseq.name=NM_015446;refseq.name2=AHCTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2012H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-384;refseq.start=245079923;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr1 245115457 . T C 406.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=90.12;MQ0=9;OQ=6262.04;QD=40.40;RankSumP=1.00000;SB=-2940.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.2648A>G;refseq.codonCoord=883;refseq.end=245115457;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2745;refseq.name=NM_015446;refseq.name2=AHCTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N883S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-40;refseq.start=245115457;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 245268214 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=855;Dels=0.00;HRun=1;HaplotypeScore=13.49;MQ=98.73;MQ0=0;OQ=16927.42;QD=19.80;RankSumP=0.0511429;SB=-5904.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.330A>G;refseq.codonCoord=110;refseq.end=245268214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_033213;refseq.name2=ZNF670;refseq.positionType=CDS;refseq.proteinCoordStr=p.K110K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=139;refseq.start=245268214;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr1 245654100 . G A 284.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=8.86;MQ=98.70;MQ0=0;OQ=7414.65;QD=39.65;RankSumP=1.00000;SB=-3379.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.732G>A;refseq.codingCoordStr_2=c.732G>A;refseq.codingCoordStr_3=c.732G>A;refseq.codingCoordStr_4=c.732G>A;refseq.codingCoordStr_5=c.732G>A;refseq.codonCoord_1=244;refseq.codonCoord_2=244;refseq.codonCoord_3=244;refseq.codonCoord_4=244;refseq.codonCoord_5=244;refseq.end_1=245654100;refseq.end_2=245654100;refseq.end_3=245654100;refseq.end_4=245654100;refseq.end_5=245654100;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=870;refseq.mrnaCoord_2=1512;refseq.mrnaCoord_3=1478;refseq.mrnaCoord_4=1478;refseq.mrnaCoord_5=1478;refseq.name2_1=NLRP3;refseq.name2_2=NLRP3;refseq.name2_3=NLRP3;refseq.name2_4=NLRP3;refseq.name2_5=NLRP3;refseq.name_1=NM_001079821;refseq.name_2=NM_001127461;refseq.name_3=NM_001127462;refseq.name_4=NM_004895;refseq.name_5=NM_183395;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A244A;refseq.proteinCoordStr_2=p.A244A;refseq.proteinCoordStr_3=p.A244A;refseq.proteinCoordStr_4=p.A244A;refseq.proteinCoordStr_5=p.A244A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.spliceDist_1=329;refseq.spliceDist_2=329;refseq.spliceDist_3=329;refseq.spliceDist_4=329;refseq.spliceDist_5=329;refseq.start_1=245654100;refseq.start_2=245654100;refseq.start_3=245654100;refseq.start_4=245654100;refseq.start_5=245654100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;set=Intersection GT 1/1 chr1 245654154 . A G 135.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=11.04;MQ=98.78;MQ0=0;OQ=11033.53;QD=40.12;RankSumP=1.00000;SB=-3767.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_1=c.786A>G;refseq.codingCoordStr_2=c.786A>G;refseq.codingCoordStr_3=c.786A>G;refseq.codingCoordStr_4=c.786A>G;refseq.codingCoordStr_5=c.786A>G;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.codonCoord_3=262;refseq.codonCoord_4=262;refseq.codonCoord_5=262;refseq.end_1=245654154;refseq.end_2=245654154;refseq.end_3=245654154;refseq.end_4=245654154;refseq.end_5=245654154;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=924;refseq.mrnaCoord_2=1566;refseq.mrnaCoord_3=1532;refseq.mrnaCoord_4=1532;refseq.mrnaCoord_5=1532;refseq.name2_1=NLRP3;refseq.name2_2=NLRP3;refseq.name2_3=NLRP3;refseq.name2_4=NLRP3;refseq.name2_5=NLRP3;refseq.name_1=NM_001079821;refseq.name_2=NM_001127461;refseq.name_3=NM_001127462;refseq.name_4=NM_004895;refseq.name_5=NM_183395;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R262R;refseq.proteinCoordStr_2=p.R262R;refseq.proteinCoordStr_3=p.R262R;refseq.proteinCoordStr_4=p.R262R;refseq.proteinCoordStr_5=p.R262R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.referenceCodon_5=CGA;refseq.spliceDist_1=383;refseq.spliceDist_2=383;refseq.spliceDist_3=383;refseq.spliceDist_4=383;refseq.spliceDist_5=383;refseq.start_1=245654154;refseq.start_2=245654154;refseq.start_3=245654154;refseq.start_4=245654154;refseq.start_5=245654154;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;set=Intersection GT 1/1 chr1 245665953 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.chr_3=chr1;refseq.chr_4=chr1;refseq.chr_5=chr1;refseq.codingCoordStr_3=c.2557A>C;refseq.codingCoordStr_4=c.2386A>C;refseq.codingCoordStr_5=c.2557A>C;refseq.codonCoord_3=853;refseq.codonCoord_4=796;refseq.codonCoord_5=853;refseq.end_1=245673886;refseq.end_2=245673886;refseq.end_3=245665953;refseq.end_4=245665953;refseq.end_5=245665953;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=2695;refseq.mrnaCoord_4=3132;refseq.mrnaCoord_5=3303;refseq.name2_1=NLRP3;refseq.name2_2=NLRP3;refseq.name2_3=NLRP3;refseq.name2_4=NLRP3;refseq.name2_5=NLRP3;refseq.name_1=NM_001127461;refseq.name_2=NM_183395;refseq.name_3=NM_001079821;refseq.name_4=NM_001127462;refseq.name_5=NM_004895;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.T853P;refseq.proteinCoordStr_4=p.T796P;refseq.proteinCoordStr_5=p.T853P;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_3=59;refseq.spliceDist_4=59;refseq.spliceDist_5=59;refseq.start_1=245664209;refseq.start_2=245664209;refseq.start_3=245665953;refseq.start_4=245665953;refseq.start_5=245665953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr1 245681316 . C T 447.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=97.74;MQ0=0;OQ=3393.61;QD=40.89;RankSumP=1.00000;SB=-1572.07;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.592G>A;refseq.codonCoord=198;refseq.end=245681316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_001004492;refseq.name2=OR2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V198M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-363;refseq.start=245681316;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr1 245681519 . A C 76.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=14.63;MQ=98.11;MQ0=0;OQ=5745.14;QD=35.68;RankSumP=1.00000;SB=-2420.54;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.389T>G;refseq.codonCoord=130;refseq.end=245681519;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001004492;refseq.name2=OR2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I130S;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=389;refseq.start=245681519;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 245721121 . G A 265.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=98.91;MQ0=0;OQ=4288.66;QD=18.98;RankSumP=0.404747;SB=-1616.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.69G>A;refseq.codonCoord=23;refseq.end=245721121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=129;refseq.name=NM_001004698;refseq.name2=OR2W5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=129;refseq.start=245721121;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr1 245762050 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=2;HaplotypeScore=4.49;MQ=98.58;MQ0=0;OQ=2447.45;QD=22.05;RankSumP=0.218881;SB=-1153.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.387G>C;refseq.codonCoord=129;refseq.end=245762050;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_198074;refseq.name2=OR2C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R129S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=416;refseq.start=245762050;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr1 245762235 . G A 285.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.98;MQ0=0;OQ=12755.07;QD=41.96;RankSumP=1.00000;SB=-5771.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.202C>T;refseq.codonCoord=68;refseq.end=245762235;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_198074;refseq.name2=OR2C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P68S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=231;refseq.start=245762235;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr1 245762379 . T C 370.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=98.88;MQ0=0;OQ=7690.94;QD=37.33;RankSumP=1.00000;SB=-2389.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.58A>G;refseq.codonCoord=20;refseq.end=245762379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_198074;refseq.name2=OR2C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=87;refseq.start=245762379;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 245818354 . C G 121.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=15.11;MQ=98.77;MQ0=0;OQ=9697.52;QD=24.99;RankSumP=0.472247;SB=-3251.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.70C>G;refseq.codonCoord=24;refseq.end=245818354;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_001001915;refseq.name2=OR2G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P24A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=70;refseq.start=245818354;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr1 245818642 . G C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=890;Dels=0.00;HRun=0;HaplotypeScore=19.75;MQ=98.63;MQ0=0;OQ=40450.58;QD=45.45;RankSumP=1.00000;SB=-16763.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.358G>C;refseq.codonCoord=120;refseq.end=245818642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_001001915;refseq.name2=OR2G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V120L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=358;refseq.start=245818642;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 245818784 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=938;Dels=0.00;HRun=3;HaplotypeScore=18.87;MQ=98.81;MQ0=0;OQ=15888.10;QD=16.94;RankSumP=3.26930e-06;SB=-5981.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.500T>C;refseq.codonCoord=167;refseq.end=245818784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_001001915;refseq.name2=OR2G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L167P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-455;refseq.start=245818784;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr1 245818990 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=2;HaplotypeScore=12.44;MQ=98.81;MQ0=0;OQ=4597.74;QD=17.55;RankSumP=0.176169;SB=-1616.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.706A>G;refseq.codonCoord=236;refseq.end=245818990;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_001001915;refseq.name2=OR2G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R236G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-249;refseq.start=245818990;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr1 245836215 . C T 264.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=98.88;MQ0=0;OQ=4138.26;QD=19.90;RankSumP=0.289540;SB=-655.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.705C>T;refseq.codonCoord=235;refseq.end=245836215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_001001914;refseq.name2=OR2G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H235H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-226;refseq.start=245836215;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr1 245902297 . G A 170.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=99.00;MQ0=0;OQ=1999.22;QD=16.66;RankSumP=0.255645;SB=-570.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.670C>T;refseq.codonCoord=224;refseq.end=245902297;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R224C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-255;refseq.start=245902297;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 245902531 . T A 187.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=5.09;MQ=98.62;MQ0=0;OQ=4215.99;QD=18.99;RankSumP=0.0634081;SB=-1699.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.436A>T;refseq.codonCoord=146;refseq.end=245902531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M146L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=436;refseq.start=245902531;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr1 245902573 . T C 336.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=98.68;MQ0=0;OQ=4350.85;QD=20.82;RankSumP=0.0226868;SB=-1498.82;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.394A>G;refseq.codonCoord=132;refseq.end=245902573;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I132V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=394;refseq.start=245902573;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr1 245902631 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=2;HaplotypeScore=4.14;MQ=98.82;MQ0=0;OQ=3038.88;QD=18.09;RankSumP=0.428697;SB=-1325.04;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.336C>T;refseq.codonCoord=112;refseq.end=245902631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F112F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=336;refseq.start=245902631;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr1 245902773 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.194T>G;refseq.codonCoord=65;refseq.end=245902773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V65G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=194;refseq.start=245902773;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr1 245902830 . T A 231.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=99.00;MQ0=0;OQ=4259.47;QD=18.85;RankSumP=0.334001;SB=-1551.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.137A>T;refseq.codonCoord=46;refseq.end=245902830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=137;refseq.name=NM_001005487;refseq.name2=OR13G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K46I;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=137;refseq.start=245902830;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr1 245942231 . C G 151.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=621.01;QD=14.79;RankSumP=0.166128;SB=-263.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.450G>C;refseq.codonCoord=150;refseq.end=245942231;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_001005286;refseq.name2=OR6F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V150V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=450;refseq.start=245942231;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr1 245987723 . T G 454.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.03;MQ0=0;OQ=6624.19;QD=37.85;RankSumP=1.00000;SB=-2354.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.609A>C;refseq.codonCoord=203;refseq.end=245987723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_012353;refseq.name2=OR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G203G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-337;refseq.start=245987723;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 245987975 . C T 345.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.81;MQ0=0;OQ=11096.72;QD=40.95;RankSumP=1.00000;SB=-4033.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.357G>A;refseq.codonCoord=119;refseq.end=245987975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_012353;refseq.name2=OR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=357;refseq.start=245987975;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr1 246044942 . A G 283.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.90;MQ0=0;OQ=9190.26;QD=41.21;RankSumP=1.00000;SB=-3245.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.713T>C;refseq.codonCoord=238;refseq.end=246044942;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_001001966;refseq.name2=OR14A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.I238T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-218;refseq.start=246044942;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 246045619 . A G 343.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=99.00;MQ0=0;OQ=2755.62;QD=19.00;RankSumP=0.176564;SB=-1213.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.36T>C;refseq.codonCoord=12;refseq.end=246045619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=36;refseq.name=NM_001001966;refseq.name2=OR14A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L12L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=36;refseq.start=246045619;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr1 246070919 . A G 329.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=99.00;MQ0=0;OQ=4754.96;QD=20.41;RankSumP=0.227084;SB=-1741.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.903T>C;refseq.codonCoord=301;refseq.end=246070919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V301V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-67;refseq.start=246070919;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr1 246071237 . G A 166.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.89;MQ0=0;OQ=1253.01;QD=14.24;RankSumP=0.336031;SB=-560.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.585C>T;refseq.codonCoord=195;refseq.end=246071237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T195T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-385;refseq.start=246071237;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr1 246071310 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=12.70;MQ=97.76;MQ0=0;OQ=2687.54;QD=16.19;RankSumP=0.00761408;SB=-791.82;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.512G>C;refseq.codonCoord=171;refseq.end=246071310;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R171P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-458;refseq.start=246071310;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/0 chr1 246071398 . C T 301.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=98.38;MQ0=0;OQ=3100.39;QD=18.57;RankSumP=0.197850;SB=-914.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.424G>A;refseq.codonCoord=142;refseq.end=246071398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A142T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=424;refseq.start=246071398;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr1 246071471 . G C 155.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.13;MQ0=0;OQ=1165.24;QD=22.41;RankSumP=0.643262;SB=-603.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.351C>G;refseq.codonCoord=117;refseq.end=246071471;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F117L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=351;refseq.start=246071471;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr1 246071500 . C T 208.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=97.71;MQ0=0;OQ=1277.12;QD=19.95;RankSumP=0.459641;SB=-379.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.322G>A;refseq.codonCoord=108;refseq.end=246071500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G108S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=322;refseq.start=246071500;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr1 246071507 . T C 133.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=97.89;MQ0=0;OQ=1278.21;QD=17.27;RankSumP=0.496283;SB=-372.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.315A>G;refseq.codonCoord=105;refseq.end=246071507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_001001959;refseq.name2=OR11L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V105V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=315;refseq.start=246071507;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr1 246087179 . G C 200.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=150.54;QD=37.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.8G>C;refseq.codonCoord=3;refseq.end=246087179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_015431;refseq.name2=TRIM58;refseq.positionType=CDS;refseq.proteinCoordStr=p.W3S;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=56;refseq.start=246087179;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/1 chr1 246094842 . G A 76.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=217.14;QD=19.74;RankSumP=0.273810;SB=-93.32;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.729G>A;refseq.codonCoord=243;refseq.end=246094842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_015431;refseq.name2=TRIM58;refseq.positionType=CDS;refseq.proteinCoordStr=p.P243P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-19;refseq.start=246094842;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr1 246105917 . G A 215.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.77;MQ0=0;OQ=2673.18;QD=13.71;RankSumP=0.0296422;SB=-1216.13;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.964G>A;refseq.codonCoord=322;refseq.end=246105917;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_015431;refseq.name2=TRIM58;refseq.positionType=CDS;refseq.proteinCoordStr=p.V322I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=93;refseq.start=246105917;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr1 246106074 . C T 350.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=10.58;MQ=98.60;MQ0=0;OQ=7124.67;QD=18.08;RankSumP=0.108986;SB=-2306.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.1121C>T;refseq.codonCoord=374;refseq.end=246106074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_015431;refseq.name2=TRIM58;refseq.positionType=CDS;refseq.proteinCoordStr=p.T374M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=250;refseq.start=246106074;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 246106336 . A G 263.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.89;MQ0=0;OQ=17578.15;QD=39.32;RankSumP=1.00000;SB=-5623.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.1383A>G;refseq.codonCoord=461;refseq.end=246106336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1431;refseq.name=NM_015431;refseq.name2=TRIM58;refseq.positionType=CDS;refseq.proteinCoordStr=p.T461T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=512;refseq.start=246106336;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 246126046 . C T 326.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=13.71;MQ=98.49;MQ0=0;OQ=6660.15;QD=18.76;RankSumP=0.272777;SB=-2484.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.535C>T;refseq.codonCoord=179;refseq.end=246126046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_001001957;refseq.name2=OR2W3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R179C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-411;refseq.start=246126046;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr1 246126079 . G A 285.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=16.06;MQ=98.46;MQ0=0;OQ=8154.90;QD=19.65;RankSumP=0.179609;SB=-2376.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.568G>A;refseq.codonCoord=190;refseq.end=246126079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_001001957;refseq.name2=OR2W3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V190I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-378;refseq.start=246126079;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr1 246126099 . A C 217.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=98.39;MQ0=0;OQ=16695.37;QD=34.71;RankSumP=1.00000;SB=-5670.25;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.588A>C;refseq.codonCoord=196;refseq.end=246126099;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_001001957;refseq.name2=OR2W3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E196D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-358;refseq.start=246126099;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr1 246126326 . T A 225.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=396;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.86;MQ0=0;OQ=15851.16;QD=40.03;RankSumP=1.00000;SB=-5275.92;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.815T>A;refseq.codonCoord=272;refseq.end=246126326;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_001001957;refseq.name2=OR2W3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M272K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-131;refseq.start=246126326;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr1 246126335 . T C 310.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=98.86;MQ0=0;OQ=13209.58;QD=37.21;RankSumP=1.00000;SB=-4381.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.824T>C;refseq.codonCoord=275;refseq.end=246126335;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_001001957;refseq.name2=OR2W3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M275T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-122;refseq.start=246126335;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 246151057 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=558;Dels=0.00;HRun=0;HaplotypeScore=46.62;MQ=47.87;MQ0=398;OQ=6682.33;QD=11.98;RankSumP=1.00000;SB=-419.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.115G>A;refseq.codonCoord=39;refseq.end=246151057;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=115;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G39S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=115;refseq.start=246151057;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr1 246151063 . T G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.416514;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.121T>G;refseq.codonCoord=41;refseq.end=246151063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=121;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S41A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=121;refseq.start=246151063;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr1 246151087 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=670;Dels=0.00;HRun=1;HaplotypeScore=16.10;MQ=32.22;MQ0=457;OQ=4287.25;QD=6.40;RankSumP=0.373918;SB=-1528.93;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.145T>C;refseq.codonCoord=49;refseq.end=246151087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.W49R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=145;refseq.start=246151087;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr1 246151134 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=980;Dels=0.00;HRun=0;HaplotypeScore=22.12;MQ=28.83;MQ0=316;OQ=464.94;QD=0.47;RankSumP=0.527179;SB=280.20;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=246151134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L64L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=192;refseq.start=246151134;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr1 246151202 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.625874;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.260G>A;refseq.codonCoord=87;refseq.end=246151202;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S87N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=260;refseq.start=246151202;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr1 246151219 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.277G>A;refseq.codonCoord=93;refseq.end=246151219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A93T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=277;refseq.start=246151219;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr1 246151232 . C T 0.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=18.81;MQ=27.41;MQ0=99;OQ=366.32;QD=3.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.290C>T;refseq.codonCoord=97;refseq.end=246151232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=290;refseq.start=246151232;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 1/1 chr1 246151248 rs6692365 C G 176.44 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=21.98;MQ=25.00;MQ0=94;QD=1.68;SB=-10.00;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.306C>G;refseq.codonCoord=102;refseq.end=246151248;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L102L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=306;refseq.start=246151248;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:24,80:6:-22.73,-1.81,-5.19:33.86 chr1 246151250 . C T 152.45 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=22.30;MQ=23.62;MQ0=90;QD=1.52;RankSumP=0.114286;SB=-10.00;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.308C>T;refseq.codonCoord=103;refseq.end=246151250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=308;refseq.start=246151250;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr1 246151254 . A C 162.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=25.93;MQ=21.17;MQ0=95;QD=1.56;RankSumP=0.190476;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.312A>C;refseq.codonCoord=104;refseq.end=246151254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=312;refseq.start=246151254;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr1 246151370 . A C 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.428A>C;refseq.codonCoord=143;refseq.end=246151370;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N143T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=428;refseq.start=246151370;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/1 chr1 246151372 . C A 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=8.99;MQ0=46;OQ=93.31;QD=1.67;RankSumP=1.00000;SB=-71.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.430C>A;refseq.codonCoord=144;refseq.end=246151372;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L144M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=430;refseq.start=246151372;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=filterInsoap-gatk GT 1/1 chr1 246151421 rs61857491 C T 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=4.45;MQ=12.76;MQ0=177;OQ=245.84;QD=0.96;SB=56.22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.479C>T;refseq.codonCoord=160;refseq.end=246151421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A160V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-461;refseq.start=246151421;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=gatk GT:AD:DP:GL:GQ 0/1:137,119:45:-41.42,-13.55,-136.44:99 chr1 246151448 . C T 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=6.38;MQ=18.31;MQ0=183;OQ=988.68;QD=2.87;RankSumP=0.400000;SB=-194.30;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.506C>T;refseq.codonCoord=169;refseq.end=246151448;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-434;refseq.start=246151448;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr1 246151532 rs34508376 T G 34.15 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=396;Dels=0.00;HRun=1;HaplotypeScore=12.85;MQ=6.23;MQ0=388;QD=0.09;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.590T>G;refseq.codonCoord=197;refseq.end=246151532;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.M197R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-350;refseq.start=246151532;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:310,86:3:-7.60,-0.90,-4.00:30.92 chr1 246151603 rs4362017 G T 0.03 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=10.21;MQ0=414;OQ=216.97;QD=0.52;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.661G>T;refseq.codonCoord=221;refseq.end=246151603;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A221S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-279;refseq.start=246151603;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:278,142:6:-25.27,-1.81,-0.00:18.06 chr1 246151731 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=36.03;MQ=61.21;MQ0=204;OQ=7253.09;QD=17.95;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.789C>T;refseq.codonCoord=263;refseq.end=246151731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_001005522;refseq.name2=OR2T8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H263H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-151;refseq.start=246151731;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr1 246179250 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=724;Dels=0.00;HRun=0;HaplotypeScore=20.36;MQ=28.74;MQ0=218;OQ=17373.42;QD=24.00;RankSumP=1.00000;SB=-6179.98;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.468T>C;refseq.codonCoord_2=156;refseq.end_1=246328565;refseq.end_2=246179250;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=468;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C156C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=468;refseq.start_1=246167320;refseq.start_2=246179250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr1 246179368 . G T 269.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=50.67;MQ0=70;OQ=2650.38;QD=18.53;RankSumP=1.00000;SB=-848.89;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.586G>T;refseq.codonCoord_2=196;refseq.end_1=246328565;refseq.end_2=246179368;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=586;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G196C;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=-354;refseq.start_1=246167320;refseq.start_2=246179368;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr1 246179385 . T C 3682.15 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=72.45;MQ0=6;QD=37.96;RankSumP=1.00000;SB=-619.46;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.603T>C;refseq.codonCoord_2=201;refseq.end_1=246328565;refseq.end_2=246179385;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=603;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S201S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=-337;refseq.start_1=246167320;refseq.start_2=246179385;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/1 chr1 246179386 rs4925790 G A 3881.05 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=73.27;MQ0=5;QD=40.01;SB=-572.76;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.604G>A;refseq.codonCoord_2=202;refseq.end_1=246328565;refseq.end_2=246179386;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=604;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A202T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-336;refseq.start_1=246167320;refseq.start_2=246179386;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,97:92:-387.10,-27.71,-0.02:99 chr1 246179394 rs4925791 C T 6552.09 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=154;Dels=0.00;HRun=3;HaplotypeScore=5.00;MQ=83.79;MQ0=1;QD=42.55;SB=-1975.44;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.612C>T;refseq.codonCoord_2=204;refseq.end_1=246328565;refseq.end_2=246179394;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=612;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I204I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-328;refseq.start_1=246167320;refseq.start_2=246179394;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,154:153:-654.21,-46.07,-0.02:99 chr1 246179432 . A G 282.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=87.91;MQ0=0;OQ=17615.50;QD=42.55;RankSumP=1.00000;SB=-6453.90;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.650A>G;refseq.codonCoord_2=217;refseq.end_1=246328565;refseq.end_2=246179432;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=650;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y217C;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_2=-290;refseq.start_1=246167320;refseq.start_2=246179432;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr1 246179459 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=532;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=85.89;MQ0=2;OQ=20337.11;QD=38.23;RankSumP=1.00000;SB=-9125.33;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.677A>G;refseq.codonCoord_2=226;refseq.end_1=246328565;refseq.end_2=246179459;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=677;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H226R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-263;refseq.start_1=246167320;refseq.start_2=246179459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr1 246179649 . T A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=468;Dels=0.00;HRun=1;HaplotypeScore=10.66;MQ=39.28;MQ0=183;OQ=10196.29;QD=21.79;RankSumP=1.00000;SB=-4299.46;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.867T>A;refseq.codonCoord_2=289;refseq.end_1=246328565;refseq.end_2=246179649;refseq.frame_2=2;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=867;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y289*;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_2=-73;refseq.start_1=246167320;refseq.start_2=246179649;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAA;set=Intersection GT 1/1 chr1 246179663 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=2;HaplotypeScore=6.24;MQ=38.60;MQ0=240;OQ=6905.82;QD=15.70;RankSumP=1.00000;SB=-3190.11;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.881A>G;refseq.codonCoord_2=294;refseq.end_1=246328565;refseq.end_2=246179663;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=881;refseq.name2_1=OR2L13;refseq.name2_2=OR2L8;refseq.name_1=NM_175911;refseq.name_2=NM_001001963;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K294R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-59;refseq.start_1=246167320;refseq.start_2=246179663;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr1 246195368 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.112A>G;refseq.codonCoord_2=38;refseq.end_1=246328565;refseq.end_2=246195368;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=112;refseq.name2_1=OR2L13;refseq.name2_2=OR2AK2;refseq.name_1=NM_175911;refseq.name_2=NM_001004491;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I38V;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_2=112;refseq.start_1=246167320;refseq.start_2=246195368;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=FilteredInAll GT 0/1 chr1 246195863 . G A 225.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=7.29;MQ=98.72;MQ0=0;OQ=10226.70;QD=41.40;RankSumP=1.00000;SB=-1927.43;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.607G>A;refseq.codonCoord_2=203;refseq.end_1=246328565;refseq.end_2=246195863;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=607;refseq.name2_1=OR2L13;refseq.name2_2=OR2AK2;refseq.name_1=NM_175911;refseq.name_2=NM_001004491;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V203M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-402;refseq.start_1=246167320;refseq.start_2=246195863;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr1 246268912 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=759;Dels=0.00;HRun=0;HaplotypeScore=15.18;MQ=94.58;MQ0=5;OQ=16054.19;QD=21.15;RankSumP=0.00596652;SB=-5278.71;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.720T>C;refseq.codonCoord_2=240;refseq.end_1=246328565;refseq.end_2=246268912;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=816;refseq.name2_1=OR2L13;refseq.name2_2=OR2L2;refseq.name_1=NM_175911;refseq.name_2=NM_001004686;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C240C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=-319;refseq.start_1=246167320;refseq.start_2=246268912;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=filterInsoap-gatk GT 1/0 chr1 246291074 . T C 39 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=3.32702e-06;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.468T>C;refseq.codonCoord_2=156;refseq.end_1=246328565;refseq.end_2=246291074;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=468;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C156C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=468;refseq.start_1=246167320;refseq.start_2=246291074;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT 1/0 chr1 246291112 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=642;Dels=0.00;HRun=0;HaplotypeScore=22.26;MQ=36.50;MQ0=135;OQ=944.48;QD=1.47;RankSumP=0.0960248;SB=609.52;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.506A>G;refseq.codonCoord_2=169;refseq.end_1=246328565;refseq.end_2=246291112;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=506;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q169R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=-434;refseq.start_1=246167320;refseq.start_2=246291112;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=soap-filterIngatk GT 0/1 chr1 246291192 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1005;Dels=0.00;HRun=0;HaplotypeScore=16.69;MQ=49.00;MQ0=257;OQ=9553.97;QD=9.51;RankSumP=0.406829;SB=-3310.62;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.586G>T;refseq.codonCoord_2=196;refseq.end_1=246328565;refseq.end_2=246291192;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=586;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G196C;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=-354;refseq.start_1=246167320;refseq.start_2=246291192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap-filterIngatk GT 0/1 chr1 246291218 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1018;Dels=0.00;HRun=3;HaplotypeScore=22.14;MQ=50.88;MQ0=196;OQ=10139.09;QD=9.96;RankSumP=0.0736263;SB=-2625.67;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.612C>T;refseq.codonCoord_2=204;refseq.end_1=246328565;refseq.end_2=246291218;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=612;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I204I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-328;refseq.start_1=246167320;refseq.start_2=246291218;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=soap-filterIngatk GT 0/1 chr1 246291241 . C G 0.46 PASS AC=1;AF=0.50;AN=2;DP=871;Dels=0.00;HRun=1;HaplotypeScore=12.50;MQ=42.28;MQ0=268;OQ=3109.33;QD=3.57;SB=-895.91;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.635C>G;refseq.codonCoord_2=212;refseq.end_1=246328565;refseq.end_2=246291241;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=635;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A212G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-305;refseq.start_1=246167320;refseq.start_2=246291241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=gatk GT:AD:DP:GL:GQ 0/1:765,106:582:-489.47,-175.25,-2360.38:99 chr1 246291369 . G T 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=615;Dels=0.00;HRun=4;HaplotypeScore=11.47;MQ=32.12;MQ0=359;OQ=9064.61;QD=14.74;RankSumP=0.277582;SB=-3162.93;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr1;refseq.chr_2=chr1;refseq.codingCoordStr_2=c.763G>T;refseq.codonCoord_2=255;refseq.end_1=246328565;refseq.end_2=246291369;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=763;refseq.name2_1=OR2L13;refseq.name2_2=OR2L3;refseq.name_1=NM_175911;refseq.name_2=NM_001004687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V255F;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=-177;refseq.start_1=246167320;refseq.start_2=246291369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr1 246330094 . G A 163.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=475;Dels=0.00;HRun=0;HaplotypeScore=9.75;MQ=98.62;MQ0=0;OQ=8461.92;QD=17.81;RankSumP=0.495223;SB=-3518.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.794G>A;refseq.codonCoord=265;refseq.end=246330094;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1131;refseq.name=NM_175911;refseq.name2=OR2L13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R265H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-754;refseq.start=246330094;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr1 246375360 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.288T>G;refseq.codonCoord=96;refseq.end=246375360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_001004690;refseq.name2=OR2M5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=288;refseq.start=246375360;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 246375643 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1210;Dels=0.00;HRun=1;HaplotypeScore=39.80;MQ=48.69;MQ0=31;OQ=730.11;QD=0.60;SB=367.01;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.571G>A;refseq.codonCoord=191;refseq.end=246375643;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001004690;refseq.name2=OR2M5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D191N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-369;refseq.start=246375643;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1068,142:1156:-424.35,-348.06,-4423.81:99 chr1 246410166 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1308;Dels=0.00;HRun=1;HaplotypeScore=43.59;MQ=58.69;MQ0=612;OQ=12035.61;QD=9.20;RankSumP=0.414003;SB=-4204.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.256C>T;refseq.codonCoord=86;refseq.end=246410166;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_001004688;refseq.name2=OR2M2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=256;refseq.start=246410166;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 0/1 chr1 246410198 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.288T>G;refseq.codonCoord=96;refseq.end=246410198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_001004688;refseq.name2=OR2M2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=288;refseq.start=246410198;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 246410568 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1387;Dels=0.00;HRun=1;HaplotypeScore=23.90;MQ=36.53;MQ0=273;OQ=8349.73;QD=6.02;RankSumP=0.314673;SB=-2216.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.658C>G;refseq.codonCoord=220;refseq.end=246410568;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_001004688;refseq.name2=OR2M2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R220G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-387;refseq.start=246410568;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr1 246410613 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1140;Dels=0.00;HRun=0;HaplotypeScore=26.06;MQ=42.01;MQ0=223;OQ=2281.56;QD=2.00;RankSumP=0.353567;SB=31.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.703T>C;refseq.codonCoord=235;refseq.end=246410613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_001004688;refseq.name2=OR2M2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C235R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-342;refseq.start=246410613;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr1 246433280 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.288T>G;refseq.codonCoord=96;refseq.end=246433280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_001004689;refseq.name2=OR2M3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=288;refseq.start=246433280;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr1 246433325 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=1070;Dels=0.00;HRun=1;HaplotypeScore=17.43;MQ=90.96;MQ0=0;OQ=22204.94;QD=20.75;RankSumP=0.218356;SB=-8576.80;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.333G>A;refseq.codonCoord=111;refseq.end=246433325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_001004689;refseq.name2=OR2M3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E111E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=333;refseq.start=246433325;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr1 246433929 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=84.80;MQ0=0;OQ=2064.58;QD=14.85;RankSumP=0.131504;SB=-222.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.937T>A;refseq.codonCoord=313;refseq.end=246433929;refseq.frame=0;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_001004689;refseq.name2=OR2M3;refseq.positionType=CDS;refseq.proteinCoordStr=p.*313R;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=246433929;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr1 246469381 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=655;Dels=0.00;HRun=5;HaplotypeScore=7.20;MQ=98.77;MQ0=0;OQ=12499.28;QD=19.08;RankSumP=0.101962;SB=-5077.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.528C>T;refseq.codonCoord=176;refseq.end=246469381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_017504;refseq.name2=OR2M4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H176H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-409;refseq.start=246469381;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 0/1 chr1 246503079 . C A 21 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=446;Dels=0.00;HRun=0;HaplotypeScore=15.97;MQ=13.41;MQ0=435;QD=0.05;SB=-6.99;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.661G>T;refseq.codonCoord=221;refseq.end=246503079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A221S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-303;refseq.start=246503079;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:296,150:11:-8.69,-3.31,-31.46:53.80 chr1 246503234 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=21.00;MQ=25.93;MQ0=235;OQ=631.25;QD=2.12;RankSumP=0.377749;SB=-87.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.506C>T;refseq.codonCoord=169;refseq.end=246503234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-458;refseq.start=246503234;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr1 246503239 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=19.13;MQ=26.29;MQ0=222;OQ=1829.85;QD=5.98;RankSumP=1.00000;SB=-156.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=246503239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.C167C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-463;refseq.start=246503239;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr1 246503261 rs61857491 A G 0.74 PASS AC=1;AF=0.50;AN=2;DB;DP=475;Dels=0.00;HRun=0;HaplotypeScore=17.40;MQ=34.63;MQ0=207;OQ=1256.25;QD=2.64;SB=-110.91;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.479T>C;refseq.codonCoord=160;refseq.end=246503261;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.V160A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=479;refseq.start=246503261;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=gatk GT:AD:DP:GL:GQ 0/1:355,116:189:-185.84,-56.93,-601.72:99 chr1 246503428 . T G 16927.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1142;Dels=0.00;HRun=1;HaplotypeScore=120.39;MQ=42.39;MQ0=577;QD=14.82;RankSumP=0.191338;SB=-5798.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.312A>C;refseq.codonCoord=104;refseq.end=246503428;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=312;refseq.start=246503428;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/0 chr1 246503430 . T A 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.103985;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.310A>T;refseq.codonCoord=104;refseq.end=246503430;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=310;refseq.start=246503430;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr1 246503432 . G A 10305.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1162;Dels=0.00;HRun=0;HaplotypeScore=111.29;MQ=42.40;MQ0=544;QD=8.87;RankSumP=0.708433;SB=-3124.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.308C>T;refseq.codonCoord=103;refseq.end=246503432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=308;refseq.start=246503432;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 1/0 chr1 246503434 . G C 12011.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1196;Dels=0.00;HRun=0;HaplotypeScore=109.16;MQ=42.40;MQ0=540;QD=10.04;RankSumP=0.0720073;SB=-3847.04;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.306C>G;refseq.codonCoord=102;refseq.end=246503434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.L102L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=306;refseq.start=246503434;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 0/1 chr1 246503480 . C T 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.0923508;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.260G>A;refseq.codonCoord=87;refseq.end=246503480;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.S87N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=260;refseq.start=246503480;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 0/1 chr1 246503535 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1149;Dels=0.00;HRun=0;HaplotypeScore=28.82;MQ=25.33;MQ0=425;OQ=774.33;QD=0.67;RankSumP=0.514183;SB=582.38;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.205A>G;refseq.codonCoord=69;refseq.end=246503535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.M69V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=205;refseq.start=246503535;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/0 chr1 246503548 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.541512;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=246503548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.L64L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=192;refseq.start=246503548;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr1 246503595 . A G 14 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=729;Dels=0.00;HRun=1;HaplotypeScore=25.39;MQ=17.75;MQ0=543;OQ=143.06;QD=0.20;RankSumP=0.175752;SB=143.50;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.145T>C;refseq.codonCoord=49;refseq.end=246503595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.W49R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=145;refseq.start=246503595;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 0/1 chr1 246503625 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=577;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=13.38;MQ0=531;OQ=153.52;QD=0.27;SB=59.22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.115G>A;refseq.codonCoord=39;refseq.end=246503625;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=115;refseq.name=NM_001004695;refseq.name2=OR2T33;refseq.positionType=CDS;refseq.proteinCoordStr=p.G39S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=115;refseq.start=246503625;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:449,128:32:-28.27,-9.64,-101.37:99 chr1 246524602 . C A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=936;Dels=0.00;HRun=0;HaplotypeScore=22.47;MQ=71.05;MQ0=10;OQ=35219.49;QD=37.63;RankSumP=1.00000;SB=-13437.64;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.902G>T;refseq.codonCoord=301;refseq.end=246524602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R301L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-62;refseq.start=246524602;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr1 246524984 . G T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.333333;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.520C>A;refseq.codonCoord=174;refseq.end=246524984;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.H174N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-444;refseq.start=246524984;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr1 246525194 . T A 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=517;Dels=0.00;HRun=0;HaplotypeScore=115.76;MQ=13.22;MQ0=504;OQ=302.90;QD=0.59;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.310A>T;refseq.codonCoord=104;refseq.end=246525194;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=310;refseq.start=246525194;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 1/1 chr1 246525227 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=470;Dels=0.00;HRun=0;HaplotypeScore=24.99;MQ=18.81;MQ0=448;OQ=259.94;QD=0.55;RankSumP=0.151628;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.277G>A;refseq.codonCoord=93;refseq.end=246525227;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A93T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=277;refseq.start=246525227;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr1 246525299 . T C 106.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=56.03;MQ0=138;OQ=3420.86;QD=15.00;RankSumP=1.00000;SB=19.64;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.205A>G;refseq.codonCoord=69;refseq.end=246525299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.M69V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=205;refseq.start=246525299;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 246525312 . A G 161.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=58.18;MQ0=152;OQ=4288.41;QD=16.69;RankSumP=1.00000;SB=-109.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=246525312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L64L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=192;refseq.start=246525312;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr1 246525340 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=12.95;MQ=71.96;MQ0=74;OQ=7264.37;QD=26.13;RankSumP=1.00000;SB=-1159.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.164G>C;refseq.codonCoord=55;refseq.end=246525340;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_001004692;refseq.name2=OR2T12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=164;refseq.start=246525340;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr1 246553923 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=927;Dels=0.00;HRun=1;HaplotypeScore=20.89;MQ=26.03;MQ0=633;OQ=11160.32;QD=12.04;RankSumP=1.00000;SB=-3841.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.571G>A;refseq.codonCoord=191;refseq.end=246553923;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001004691;refseq.name2=OR2M7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D191N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-369;refseq.start=246553923;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr1 246553961 . C A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=864;Dels=0.00;HRun=1;HaplotypeScore=7.45;MQ=22.12;MQ0=657;OQ=7003.04;QD=8.11;RankSumP=1.00000;SB=-3209.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.533G>T;refseq.codonCoord=178;refseq.end=246553961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_001004691;refseq.name2=OR2M7;refseq.positionType=CDS;refseq.proteinCoordStr=p.C178F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-407;refseq.start=246553961;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr1 246554261 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1192;Dels=0.00;HRun=0;HaplotypeScore=44.73;MQ=55.71;MQ0=117;OQ=43719.16;QD=36.68;RankSumP=1.00000;SB=-19746.18;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.233T>C;refseq.codonCoord=78;refseq.end=246554261;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_001004691;refseq.name2=OR2M7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=233;refseq.start=246554261;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap-filterIngatk GT 1/1 chr1 246554391 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=960;Dels=0.00;HRun=1;HaplotypeScore=30.40;MQ=80.66;MQ0=32;OQ=37373.93;QD=38.93;RankSumP=1.00000;SB=-18605.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.103T>C;refseq.codonCoord=35;refseq.end=246554391;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=103;refseq.name=NM_001004691;refseq.name2=OR2M7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F35L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=103;refseq.start=246554391;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 1/1 chr1 246578717 . C T 145.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=14193.73;QD=43.27;RankSumP=1.00000;SB=-5257.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.18C>T;refseq.codonCoord=6;refseq.end=246578717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=18;refseq.name=NM_001001918;refseq.name2=OR14C36;refseq.positionType=CDS;refseq.proteinCoordStr=p.T6T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=18;refseq.start=246578717;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr1 246579121 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=9.55;MQ=98.58;MQ0=0;OQ=6772.60;QD=17.32;RankSumP=0.000617005;SB=-2758.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.422A>G;refseq.codonCoord=141;refseq.end=246579121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_001001918;refseq.name2=OR14C36;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q141R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=422;refseq.start=246579121;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 0/1 chr1 246579260 . C T 97.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=8.81;MQ=98.83;MQ0=0;OQ=13065.74;QD=42.28;RankSumP=1.00000;SB=-5804.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.561C>T;refseq.codonCoord=187;refseq.end=246579260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_001001918;refseq.name2=OR14C36;refseq.positionType=CDS;refseq.proteinCoordStr=p.C187C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-379;refseq.start=246579260;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr1 246579372 . G A 127.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=13.11;MQ=98.41;MQ0=0;OQ=11217.40;QD=41.39;RankSumP=1.00000;SB=-5527.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.673G>A;refseq.codonCoord=225;refseq.end=246579372;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_001001918;refseq.name2=OR14C36;refseq.positionType=CDS;refseq.proteinCoordStr=p.G225R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-267;refseq.start=246579372;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr1 246579390 . G T 227.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=98.64;MQ0=0;OQ=10606.34;QD=38.29;RankSumP=1.00000;SB=-4313.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.691G>T;refseq.codonCoord=231;refseq.end=246579390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_001001918;refseq.name2=OR14C36;refseq.positionType=CDS;refseq.proteinCoordStr=p.D231Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-249;refseq.start=246579390;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 246591723 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1039;Dels=0.00;HRun=3;HaplotypeScore=30.76;MQ=72.78;MQ0=4;OQ=9699.20;QD=9.34;SB=-2577.81;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.218G>A;refseq.codonCoord=73;refseq.end=246591723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_001004696;refseq.name2=OR2T4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G73E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=218;refseq.start=246591723;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:810,229:1008:-968.92,-303.51,-3344.05:99 chr1 246591758 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1563;Dels=0.00;HRun=0;HaplotypeScore=44.17;MQ=60.15;MQ0=54;OQ=16759.35;QD=10.72;SB=-4440.98;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.253G>A;refseq.codonCoord=85;refseq.end=246591758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_001004696;refseq.name2=OR2T4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A85T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=253;refseq.start=246591758;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1131,430:1428:-1674.93,-430.09,-3942.33:99 chr1 246591761 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1615;Dels=0.00;HRun=0;HaplotypeScore=65.13;MQ=59.48;MQ0=71;OQ=17482.34;QD=10.82;RankSumP=0.415078;SB=-4978.79;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.256C>T;refseq.codonCoord=86;refseq.end=246591761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_001004696;refseq.name2=OR2T4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H86Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=256;refseq.start=246591761;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr1 246591908 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.362915;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.403T>C;refseq.codonCoord=135;refseq.end=246591908;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_001004696;refseq.name2=OR2T4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F135L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=403;refseq.start=246591908;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr1 246592262 . A C,T 64 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=32;RankSumP=0.516422;SecondBestBaseQ=22;set=soap GT 1/2 chr1 246592263 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.165568;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.758T>C;refseq.codonCoord=253;refseq.end=246592263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_001004696;refseq.name2=OR2T4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I253T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-290;refseq.start=246592263;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr1 246617599 . T G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=402;Dels=0.00;HRun=1;HaplotypeScore=14.24;MQ=98.64;MQ0=0;OQ=16348.53;QD=40.67;RankSumP=1.00000;SB=-7243.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.67T>G;refseq.codonCoord=23;refseq.end=246617599;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=67;refseq.name=NM_001005471;refseq.name2=OR2T6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C23G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=67;refseq.start=246617599;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr1 246635992 . A G 250.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.81;MQ0=0;OQ=14436.32;QD=37.59;RankSumP=1.00000;SB=-3958.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.74A>G;refseq.codonCoord=25;refseq.end=246635992;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=74;refseq.name=NM_030904;refseq.name2=OR2T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H25R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=74;refseq.start=246635992;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr1 246683024 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1135;Dels=0.00;HRun=1;HaplotypeScore=15.77;MQ=84.21;MQ0=96;OQ=19438.94;QD=17.13;RankSumP=0.316528;SB=-6283.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.303G>A;refseq.codonCoord=101;refseq.end=246683024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_001004136;refseq.name2=OR2T2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q101Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=303;refseq.start=246683024;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr1 246683031 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1072;Dels=0.00;HRun=1;HaplotypeScore=21.29;MQ=85.83;MQ0=55;OQ=19280.60;QD=17.99;RankSumP=0.432226;SB=-5704.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.310C>T;refseq.codonCoord=104;refseq.end=246683031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001004136;refseq.name2=OR2T2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=310;refseq.start=246683031;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr1 246703669 . G A 13 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=479;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=9.08;MQ0=422;OQ=179.29;QD=0.37;RankSumP=0.200000;SB=-10.00;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.395G>A;refseq.codonCoord=132;refseq.end=246703669;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_001005495;refseq.name2=OR2T3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C132Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=395;refseq.start=246703669;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr1 246703688 . A G 9 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.414A>G;refseq.codonCoord=138;refseq.end=246703688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_001005495;refseq.name2=OR2T3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P138P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=414;refseq.start=246703688;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr1 246703985 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1680;Dels=0.00;HRun=0;HaplotypeScore=40.36;MQ=25.75;MQ0=246;OQ=10301.50;QD=6.13;RankSumP=0.386967;SB=-1602.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.711C>T;refseq.codonCoord=237;refseq.end=246703985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_001005495;refseq.name2=OR2T3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A237A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-247;refseq.start=246703985;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 0/1 chr1 246704166 . C T 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1365;Dels=0.00;HRun=0;HaplotypeScore=27.06;MQ=5.90;MQ0=1273;OQ=365.20;QD=0.27;RankSumP=0.452381;SB=-102.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.892C>T;refseq.codonCoord=298;refseq.end=246704166;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_001005495;refseq.name2=OR2T3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R298C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-66;refseq.start=246704166;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 0/1 chr1 246718528 . A T 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.114286;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.16A>T;refseq.codonCoord=6;refseq.end=246718528;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=16;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R6W;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=16;refseq.start=246718528;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 0/1 chr1 246718550 . A G 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=6.16;MQ=21.50;MQ0=90;OQ=667.83;QD=2.88;RankSumP=0.696970;SB=71.27;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.38A>G;refseq.codonCoord=13;refseq.end=246718550;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=38;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K13R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=38;refseq.start=246718550;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr1 246718582 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=530;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=21.39;MQ0=205;OQ=1043.40;QD=1.97;RankSumP=0.410276;SB=-302.37;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.70C>T;refseq.codonCoord=24;refseq.end=246718582;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=70;refseq.start=246718582;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap-filterIngatk GT 0/1 chr1 246718634 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=812;Dels=0.00;HRun=0;HaplotypeScore=14.01;MQ=14.09;MQ0=633;OQ=877.34;QD=1.08;RankSumP=0.325285;SB=-304.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.122A>T;refseq.codonCoord=41;refseq.end=246718634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=122;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K41M;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=122;refseq.start=246718634;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 246718646 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=860;Dels=0.00;HRun=3;HaplotypeScore=12.91;MQ=9.13;MQ0=795;OQ=404.74;QD=0.47;RankSumP=0.271618;SB=-117.92;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.134G>A;refseq.codonCoord=45;refseq.end=246718646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=134;refseq.start=246718646;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr1 246718681 rs9439352 G A 0.87 PASS AC=2;AF=1.00;AN=2;DB;DP=974;Dels=0.00;HRun=0;HaplotypeScore=12.91;MQ=7.23;MQ0=966;OQ=198.95;QD=0.20;SB=-119.66;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.169G>A;refseq.codonCoord=57;refseq.end=246718681;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A57T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=169;refseq.start=246718681;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=gatk GT:AD:DP:GL:GQ 1/1:915,57:6:-23.47,-1.81,-0.00:18.06 chr1 246718684 rs9439337 C T 0.59 PASS AC=2;AF=1.00;AN=2;DB;DP=972;Dels=0.00;HRun=0;HaplotypeScore=12.28;MQ=4.69;MQ0=968;OQ=119.33;QD=0.12;SB=-10.00;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.172C>T;refseq.codonCoord=58;refseq.end=246718684;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H58Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=172;refseq.start=246718684;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=gatk GT:AD:DP:GL:GQ 1/1:922,50:4:-15.47,-1.21,-0.00:12.04 chr1 246718694 . G C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=994;Dels=0.00;HRun=4;HaplotypeScore=13.32;MQ=4.44;MQ0=992;OQ=69.76;QD=0.07;RankSumP=0.425641;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.182G>C;refseq.codonCoord=61;refseq.end=246718694;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S61T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=182;refseq.start=246718694;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr1 246718798 . G A 10.16 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=773;Dels=0.00;HRun=0;HaplotypeScore=28.33;MQ=3.56;MQ0=772;QD=0.01;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.286G>A;refseq.codonCoord=96;refseq.end=246718798;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V96I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=286;refseq.start=246718798;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/1 chr1 246718973 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.444444;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.461T>C;refseq.codonCoord=154;refseq.end=246718973;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F154S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=461;refseq.start=246718973;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr1 246719197 . G A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.700000;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.685G>A;refseq.codonCoord=229;refseq.end=246719197;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V229I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-264;refseq.start=246719197;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr1 246719219 . A C 11.09 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=681;Dels=0.00;HRun=0;HaplotypeScore=17.97;MQ=0.96;MQ0=680;QD=0.02;RankSumP=0.583333;SB=-10.00;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.707A>C;refseq.codonCoord=236;refseq.end=246719219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_001004697;refseq.name2=OR2T5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E236A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-242;refseq.start=246719219;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr1 246751876 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=679;Dels=0.00;HRun=0;HaplotypeScore=20.45;MQ=98.71;MQ0=0;OQ=22613.18;QD=33.30;RankSumP=1.00000;SB=-9230.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.306T>C;refseq.codonCoord=102;refseq.end=246751876;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_001013355;refseq.name2=OR2G6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y102Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=306;refseq.start=246751876;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr1 246803882 . C G 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.800G>C;refseq.codonCoord=267;refseq.end=246803882;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_001001821;refseq.name2=OR2T34;refseq.positionType=CDS;refseq.proteinCoordStr=p.R267P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-158;refseq.start=246803882;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr1 246803966 . C T 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=17.76;MQ0=101;OQ=129.88;QD=1.18;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.716G>A;refseq.codonCoord=239;refseq.end=246803966;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_001001821;refseq.name2=OR2T34;refseq.positionType=CDS;refseq.proteinCoordStr=p.R239H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-242;refseq.start=246803966;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr1 246803971 . G A 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=17.23;MQ0=109;OQ=167.75;QD=1.34;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.711C>T;refseq.codonCoord=237;refseq.end=246803971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_001001821;refseq.name2=OR2T34;refseq.positionType=CDS;refseq.proteinCoordStr=p.A237A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-247;refseq.start=246803971;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr1 246804218 . A G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.0277778;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.464T>C;refseq.codonCoord=155;refseq.end=246804218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_001001821;refseq.name2=OR2T34;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=464;refseq.start=246804218;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr1 246804357 . G A 10.26 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.00;MQ0=0;QD=10.26;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.325C>T;refseq.codonCoord=109;refseq.end=246804357;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_001001821;refseq.name2=OR2T34;refseq.positionType=CDS;refseq.proteinCoordStr=p.H109Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=325;refseq.start=246804357;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/1 chr1 246868535 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.648G>C;refseq.codonCoord=216;refseq.end=246868535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_001001827;refseq.name2=OR2T35;refseq.positionType=CDS;refseq.proteinCoordStr=p.V216V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-325;refseq.start=246868535;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr1 246868870 . G A 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.313C>T;refseq.codonCoord=105;refseq.end=246868870;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_001001827;refseq.name2=OR2T35;refseq.positionType=CDS;refseq.proteinCoordStr=p.L105L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=313;refseq.start=246868870;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/1 chr1 246868872 . T A 12 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=6.48;MQ0=64;OQ=68.29;QD=0.92;RankSumP=1.00000;SB=-3.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.311A>T;refseq.codonCoord=104;refseq.end=246868872;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_001001827;refseq.name2=OR2T35;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y104F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=311;refseq.start=246868872;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/1 chr1 246869092 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.91G>A;refseq.codonCoord=31;refseq.end=246869092;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=91;refseq.name=NM_001001827;refseq.name2=OR2T35;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=91;refseq.start=246869092;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 1/1 chr1 246879894 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00432116;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.915G>T;refseq.codonCoord=305;refseq.end=246879894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V305V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-40;refseq.start=246879894;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr1 246879915 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.309413;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.894A>G;refseq.codonCoord=298;refseq.end=246879915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T298T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-61;refseq.start=246879915;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr1 246879966 . A G 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.161548;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.843T>C;refseq.codonCoord=281;refseq.end=246879966;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.L281L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-112;refseq.start=246879966;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr1 246880170 rs1770073 G C 19.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=31.31;MQ0=3;OQ=57.30;QD=11.46;SB=-54.47;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.639C>G;refseq.codonCoord=213;refseq.end=246880170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V213V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-316;refseq.start=246880170;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 1/1:0,5:2:-9.14,-0.60,-0.00:6.02 chr1 246880408 rs1782240 A T 21.25 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=12.07;MQ=26.58;MQ0=139;QD=0.07;SB=233.76;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.401T>A;refseq.codonCoord=134;refseq.end=246880408;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=401;refseq.start=246880408;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:201,110:144:-48.77,-43.36,-507.71:54.06 chr1 246880450 rs1782241 T C 39.50 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=407;Dels=0.00;HRun=0;HaplotypeScore=9.42;MQ=19.73;MQ0=196;QD=0.10;SB=227.23;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.359A>G;refseq.codonCoord=120;refseq.end=246880450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y120C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=359;refseq.start=246880450;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:343,63:180:-61.45,-54.21,-695.12:72.34 chr1 246880524 rs61834487 A T 0.31 PASS AC=1;AF=0.50;AN=2;DB;DP=608;Dels=0.00;HRun=0;HaplotypeScore=13.80;MQ=15.35;MQ0=568;OQ=64.83;QD=0.11;SB=35.14;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.285T>A;refseq.codonCoord=95;refseq.end=246880524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A95A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=285;refseq.start=246880524;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=gatk GT:AD:DP:GL:GQ 0/1:409,198:29:-18.50,-8.73,-92.78:97.67 chr1 246880675 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=70.23;MQ0=111;OQ=1022.30;QD=3.83;RankSumP=0.0696301;SB=-270.50;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.134A>T;refseq.codonCoord=45;refseq.end=246880675;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.K45M;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=134;refseq.start=246880675;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr1 246880703 . A C 278.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=88.10;MQ0=13;OQ=10401.03;QD=36.11;RankSumP=1.00000;SB=-4235.58;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.106T>G;refseq.codonCoord=36;refseq.end=246880703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.L36V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=106;refseq.start=246880703;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr1 246880749 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=87.73;MQ0=17;OQ=4527.10;QD=12.37;RankSumP=0.287507;SB=-1599.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.60C>T;refseq.codonCoord=20;refseq.end=246880749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=60;refseq.name=NM_001001824;refseq.name2=OR2T27;refseq.positionType=CDS;refseq.proteinCoordStr=p.N20N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=60;refseq.start=246880749;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr1 246911582 . T C 181.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.82;MQ0=0;OQ=7290.48;QD=21.19;RankSumP=0.305755;SB=-3000.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.647A>G;refseq.codonCoord=216;refseq.end=246911582;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y216C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-290;refseq.start=246911582;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr1 246911720 . C T 225.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=98.66;MQ0=0;OQ=2883.52;QD=15.10;RankSumP=0.353341;SB=-1196.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.509G>A;refseq.codonCoord=170;refseq.end=246911720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S170N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-428;refseq.start=246911720;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 246911979 . G T 193.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.77;MQ0=0;OQ=2456.45;QD=17.55;RankSumP=0.146598;SB=-768.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.250C>A;refseq.codonCoord=84;refseq.end=246911979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L84M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=250;refseq.start=246911979;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr1 246912034 . G A 155.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=16.33;MQ=98.61;MQ0=0;OQ=4406.02;QD=17.35;RankSumP=0.325650;SB=-1612.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.195C>T;refseq.codonCoord=65;refseq.end=246912034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S65S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=195;refseq.start=246912034;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr1 246912081 . C T 219.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=2.41;MQ=98.74;MQ0=0;OQ=4502.63;QD=16.08;RankSumP=0.436374;SB=-1648.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.148G>A;refseq.codonCoord=50;refseq.end=246912081;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D50N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=148;refseq.start=246912081;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr1 246912094 . T C 165.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=5.42;MQ=98.87;MQ0=0;OQ=10199.52;QD=36.82;RankSumP=1.00000;SB=-4512.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr1;refseq.codingCoordStr=c.135A>G;refseq.codonCoord=45;refseq.end=246912094;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A45A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=135;refseq.start=246912094;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 246912122 . A G 273.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=98.78;MQ0=0;OQ=10243.67;QD=36.85;RankSumP=1.00000;SB=-4459.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.107T>C;refseq.codonCoord=36;refseq.end=246912122;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_001004734;refseq.name2=OR14I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V36A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=107;refseq.start=246912122;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr1 247077705 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr1;refseq.codingCoordStr=c.185A>G;refseq.codonCoord=62;refseq.end=247077705;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_030645;refseq.name2=SH3BP5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E62G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=247077705;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 35895 . A G 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=5;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=124.95;QD=24.99;RankSumP=1.00000;SB=-87.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.491T>C;refseq.codonCoord=164;refseq.end=35895;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_001077710;refseq.name2=FAM110C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I164T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-456;refseq.start=35895;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr2 267250 . G A 119.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=581;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=97.68;MQ0=0;OQ=11203.27;QD=19.28;RankSumP=0.172019;SB=-3617.04;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.423G>A;refseq.codingCoordStr_3=c.423G>A;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.end_1=267250;refseq.end_2=267250;refseq.end_3=267250;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=548;refseq.mrnaCoord_2=519;refseq.mrnaCoord_3=519;refseq.name2_1=ACP1;refseq.name2_2=ACP1;refseq.name2_3=ACP1;refseq.name_1=NR_024080;refseq.name_2=NM_004300;refseq.name_3=NM_007099;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T141T;refseq.proteinCoordStr_3=p.T141T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=267250;refseq.start_2=267250;refseq.start_3=267250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr2 1397199 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.90;MQ0=0;OQ=2088.42;QD=18.16;RankSumP=0.340730;SB=-539.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.12C>G;refseq.codingCoordStr_2=c.12C>G;refseq.codingCoordStr_3=c.12C>G;refseq.codingCoordStr_4=c.12C>G;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.codonCoord_3=4;refseq.codonCoord_4=4;refseq.end_1=1397199;refseq.end_2=1397199;refseq.end_3=1397199;refseq.end_4=1397199;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=103;refseq.mrnaCoord_2=103;refseq.mrnaCoord_3=13;refseq.mrnaCoord_4=13;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_000547;refseq.name_2=NM_175719;refseq.name_3=NM_175721;refseq.name_4=NM_175722;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L4L;refseq.proteinCoordStr_2=p.L4L;refseq.proteinCoordStr_3=p.L4L;refseq.proteinCoordStr_4=p.L4L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.start_1=1397199;refseq.start_2=1397199;refseq.start_3=1397199;refseq.start_4=1397199;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/0 chr2 1460162 . G T 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=91.39;MQ0=0;OQ=181.15;QD=30.19;RankSumP=1.00000;SB=-52.95;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.1117G>T;refseq.codingCoordStr_3=c.1117G>T;refseq.codingCoordStr_4=c.1117G>T;refseq.codonCoord_2=373;refseq.codonCoord_3=373;refseq.codonCoord_4=373;refseq.end_1=1467364;refseq.end_2=1460162;refseq.end_3=1460162;refseq.end_4=1460162;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1208;refseq.mrnaCoord_3=1208;refseq.mrnaCoord_4=1118;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_175722;refseq.name_2=NM_000547;refseq.name_3=NM_175719;refseq.name_4=NM_175721;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A373S;refseq.proteinCoordStr_3=p.A373S;refseq.proteinCoordStr_4=p.A373S;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_2=-222;refseq.spliceDist_3=-222;refseq.spliceDist_4=-222;refseq.start_1=1439072;refseq.start_2=1460162;refseq.start_3=1460162;refseq.start_4=1460162;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=filterInsoap-gatk GT 1/1 chr2 1460238 . G C 12.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=139.53;QD=19.93;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.1193G>C;refseq.codingCoordStr_3=c.1193G>C;refseq.codingCoordStr_4=c.1193G>C;refseq.codonCoord_2=398;refseq.codonCoord_3=398;refseq.codonCoord_4=398;refseq.end_1=1467364;refseq.end_2=1460238;refseq.end_3=1460238;refseq.end_4=1460238;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1284;refseq.mrnaCoord_3=1284;refseq.mrnaCoord_4=1194;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_175722;refseq.name_2=NM_000547;refseq.name_3=NM_175719;refseq.name_4=NM_175721;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S398T;refseq.proteinCoordStr_3=p.S398T;refseq.proteinCoordStr_4=p.S398T;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_2=-146;refseq.spliceDist_3=-146;refseq.spliceDist_4=-146;refseq.start_1=1439072;refseq.start_2=1460238;refseq.start_3=1460238;refseq.start_4=1460238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=filterInsoap-gatk GT 1/1 chr2 1460362 . G A 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.72;MQ0=0;OQ=140.83;QD=10.06;RankSumP=0.604329;SB=-3.98;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.1317G>A;refseq.codingCoordStr_3=c.1317G>A;refseq.codingCoordStr_4=c.1317G>A;refseq.codonCoord_2=439;refseq.codonCoord_3=439;refseq.codonCoord_4=439;refseq.end_1=1467364;refseq.end_2=1460362;refseq.end_3=1460362;refseq.end_4=1460362;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1408;refseq.mrnaCoord_3=1408;refseq.mrnaCoord_4=1318;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_175722;refseq.name_2=NM_000547;refseq.name_3=NM_175719;refseq.name_4=NM_175721;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.K439K;refseq.proteinCoordStr_3=p.K439K;refseq.proteinCoordStr_4=p.K439K;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.start_1=1439072;refseq.start_2=1460362;refseq.start_3=1460362;refseq.start_4=1460362;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=Intersection GT 1/0 chr2 1486754 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=7;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.2414A>C;refseq.codingCoordStr_3=c.2243A>C;refseq.codingCoordStr_4=c.1895A>C;refseq.codonCoord_2=805;refseq.codonCoord_3=748;refseq.codonCoord_4=632;refseq.end_1=1499651;refseq.end_2=1486754;refseq.end_3=1486754;refseq.end_4=1486754;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=2505;refseq.mrnaCoord_3=2334;refseq.mrnaCoord_4=1896;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_175721;refseq.name_2=NM_000547;refseq.name_3=NM_175719;refseq.name_4=NM_175722;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.H805P;refseq.proteinCoordStr_3=p.H748P;refseq.proteinCoordStr_4=p.H632P;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=28;refseq.start_1=1479555;refseq.start_2=1486754;refseq.start_3=1486754;refseq.start_4=1486754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr2 1499683 . T C 333.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=1234.78;QD=37.42;RankSumP=1.00000;SB=-384.60;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.2540T>C;refseq.codingCoordStr_2=c.2369T>C;refseq.codingCoordStr_3=c.2408T>C;refseq.codingCoordStr_4=c.2021T>C;refseq.codonCoord_1=847;refseq.codonCoord_2=790;refseq.codonCoord_3=803;refseq.codonCoord_4=674;refseq.end_1=1499683;refseq.end_2=1499683;refseq.end_3=1499683;refseq.end_4=1499683;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2631;refseq.mrnaCoord_2=2460;refseq.mrnaCoord_3=2409;refseq.mrnaCoord_4=2022;refseq.name2_1=TPO;refseq.name2_2=TPO;refseq.name2_3=TPO;refseq.name2_4=TPO;refseq.name_1=NM_000547;refseq.name_2=NM_175719;refseq.name_3=NM_175721;refseq.name_4=NM_175722;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V847A;refseq.proteinCoordStr_2=p.V790A;refseq.proteinCoordStr_3=p.V803A;refseq.proteinCoordStr_4=p.V674A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.start_1=1499683;refseq.start_2=1499683;refseq.start_3=1499683;refseq.start_4=1499683;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/1 chr2 3370833 . C T 12.95 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=6.47;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.432C>T;refseq.codonCoord=144;refseq.end=3370833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A144A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=436;refseq.start=3370833;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/1 chr2 3371044 . G C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=191;Dels=0.00;HRun=2;HaplotypeScore=14.13;MQ=97.14;MQ0=0;OQ=420.23;QD=2.20;RankSumP=0.00000;SB=242.84;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.643G>C;refseq.codonCoord=215;refseq.end=3371044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A215P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-405;refseq.start=3371044;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 3371082 . T C 232.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=97.82;MQ0=0;OQ=6332.95;QD=39.34;RankSumP=1.00000;SB=-1624.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.681T>C;refseq.codonCoord=227;refseq.end=3371082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.F227F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-367;refseq.start=3371082;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 3371302 . A G 215.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.29;MQ0=0;OQ=6027.36;QD=38.39;RankSumP=1.00000;SB=-2572.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.901A>G;refseq.codonCoord=301;refseq.end=3371302;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1107;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S301G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-147;refseq.start=3371302;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 3448470 . G C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=8.05;MQ=98.50;MQ0=0;OQ=16759.88;QD=46.82;RankSumP=1.00000;SB=-3981.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1773G>C;refseq.codonCoord=591;refseq.end=3448470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1979;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L591L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=3448470;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr2 3462212 . C T 103.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=2.24;MQ=98.74;MQ0=0;OQ=3519.48;QD=35.55;RankSumP=1.00000;SB=-1390.91;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2181C>T;refseq.codonCoord=727;refseq.end=3462212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2387;refseq.name=NM_016030;refseq.name2=TTC15;refseq.positionType=CDS;refseq.proteinCoordStr=p.F727F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-138;refseq.start=3462212;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr2 3483694 . A G 194.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=98.90;MQ0=0;OQ=9855.59;QD=33.18;RankSumP=1.00000;SB=-4292.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.318T>C;refseq.codonCoord=106;refseq.end=3483694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_018269;refseq.name2=ADI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D106D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=78;refseq.start=3483694;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr2 3575849 . T C 95.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=2;HaplotypeScore=3.95;MQ=96.76;MQ0=0;OQ=4089.60;QD=36.51;RankSumP=1.00000;SB=-1249.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.498A>G;refseq.codonCoord=166;refseq.end=3575849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_002936;refseq.name2=RNASEH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P166P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-12;refseq.start=3575849;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 6907471 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=17.52;MQ=98.36;MQ0=0;OQ=2604.91;QD=13.43;RankSumP=0.467257;SB=-795.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1311G>A;refseq.codonCoord=437;refseq.end=6907471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_207315;refseq.name2=CMPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T437T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=85;refseq.start=6907471;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 6922820 . A G 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=508.07;QD=29.89;RankSumP=1.00000;SB=-198.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.459T>C;refseq.codonCoord=153;refseq.end=6922820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_207315;refseq.name2=CMPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C153C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-217;refseq.start=6922820;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr2 7054518 . A G 419.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=98.54;MQ0=0;OQ=7913.77;QD=40.58;RankSumP=1.00000;SB=-2053.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=7054518;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_014746;refseq.name2=RNF144A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=21;refseq.start=7054518;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr2 7072083 . T C 220.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=5359.37;QD=39.41;RankSumP=1.00000;SB=-2025.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.183T>C;refseq.codonCoord=61;refseq.end=7072083;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_014746;refseq.name2=RNF144A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T61T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=48;refseq.start=7072083;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr2 8788793 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.95;MQ0=0;OQ=1531.23;QD=11.96;RankSumP=0.176186;SB=-510.59;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4824G>T;refseq.codonCoord=1608;refseq.end=8788793;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5006;refseq.name=NM_020738;refseq.name2=KIDINS220;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1608H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=771;refseq.start=8788793;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr2 9408468 . C T 359.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=98.88;MQ0=0;OQ=9861.91;QD=40.09;RankSumP=1.00000;SB=-3220.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1104C>T;refseq.codingCoordStr_2=c.1104C>T;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.end_1=9408468;refseq.end_2=9408468;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1444;refseq.mrnaCoord_2=1444;refseq.name2_1=ASAP2;refseq.name2_2=ASAP2;refseq.name_1=NM_001135191;refseq.name_2=NM_003887;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L368L;refseq.proteinCoordStr_2=p.L368L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=9408468;refseq.start_2=9408468;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr2 9445987 . G C 238.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=2194.22;QD=16.88;RankSumP=0.179497;SB=-827.31;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2244G>C;refseq.codingCoordStr_2=c.2244G>C;refseq.codonCoord_1=748;refseq.codonCoord_2=748;refseq.end_1=9445987;refseq.end_2=9445987;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2584;refseq.mrnaCoord_2=2584;refseq.name2_1=ASAP2;refseq.name2_2=ASAP2;refseq.name_1=NM_001135191;refseq.name_2=NM_003887;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E748D;refseq.proteinCoordStr_2=p.E748D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=9445987;refseq.start_2=9445987;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr2 9552307 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.83;MQ0=0;OQ=2121.10;QD=12.78;RankSumP=0.376616;SB=-928.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1824T>C;refseq.codonCoord=608;refseq.end=9552307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2007;refseq.name=NM_003183;refseq.name2=ADAM17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S608S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=41;refseq.start=9552307;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr2 9962465 . C T 432.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=5586.08;QD=40.77;RankSumP=1.00000;SB=-1722.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.834C>T;refseq.codonCoord=278;refseq.end=9962465;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_005680;refseq.name2=TAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y278Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=27;refseq.start=9962465;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr2 9962475 . G A 321.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.97;MQ0=0;OQ=5942.79;QD=41.56;RankSumP=1.00000;SB=-2004.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.844G>A;refseq.codonCoord=282;refseq.end=9962475;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_005680;refseq.name2=TAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V282I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=37;refseq.start=9962475;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr2 9968398 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=15.65;MQ=98.79;MQ0=0;OQ=11557.60;QD=40.98;RankSumP=1.00000;SB=-5393.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1038T>C;refseq.codonCoord=346;refseq.end=9968398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_005680;refseq.name2=TAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A346A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=83;refseq.start=9968398;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 9968411 . A G 301.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.65;MQ0=0;OQ=12976.45;QD=41.33;RankSumP=1.00000;SB=-5691.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1051A>G;refseq.codonCoord=351;refseq.end=9968411;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_005680;refseq.name2=TAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T351A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-83;refseq.start=9968411;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 9977221 . G T 314.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=4882.80;QD=40.02;RankSumP=1.00000;SB=-1634.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1386G>T;refseq.codonCoord=462;refseq.end=9977221;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1486;refseq.name=NM_005680;refseq.name2=TAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E462D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=44;refseq.start=9977221;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr2 10043781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.47;MQ0=0;OQ=2061.50;QD=20.21;RankSumP=0.498712;SB=-458.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1189G>A;refseq.codonCoord=397;refseq.end=10043781;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1360;refseq.name=NM_198182;refseq.name2=GRHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V397I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=79;refseq.start=10043781;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr2 10049725 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=339;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=98.71;MQ0=0;OQ=5374.45;QD=15.85;RankSumP=0.404726;SB=-1861.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1461T>C;refseq.codonCoord=487;refseq.end=10049725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1632;refseq.name=NM_198182;refseq.name2=GRHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H487H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=10049725;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 10106100 . A T 125.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=4.86;MQ=98.32;MQ0=0;OQ=14048.47;QD=40.37;RankSumP=1.00000;SB=-6263.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1185A>T;refseq.codonCoord=395;refseq.end=10106100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_003597;refseq.name2=KLF11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V395V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-74;refseq.start=10106100;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr2 10181017 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.227A>C;refseq.codingCoordStr_2=c.407A>C;refseq.codonCoord_1=76;refseq.codonCoord_2=136;refseq.end_1=10181017;refseq.end_2=10181017;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=290;refseq.mrnaCoord_2=458;refseq.name2_1=RRM2;refseq.name2_2=RRM2;refseq.name_1=NM_001034;refseq.name_2=NM_001165931;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N76T;refseq.proteinCoordStr_2=p.N136T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=10181017;refseq.start_2=10181017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr2 10830170 . G A 144.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3512.59;QD=42.84;RankSumP=1.00000;SB=-1496.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.621G>A;refseq.codingCoordStr_2=c.621G>A;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=10830170;refseq.end_2=10830170;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=730;refseq.mrnaCoord_2=730;refseq.name2_1=ATP6V1C2;refseq.name2_2=ATP6V1C2;refseq.name_1=NM_001039362;refseq.name_2=NM_144583;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V207V;refseq.proteinCoordStr_2=p.V207V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=10830170;refseq.start_2=10830170;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr2 10839929 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1171G>T;refseq.codingCoordStr_2=c.1033G>T;refseq.codonCoord_1=391;refseq.codonCoord_2=345;refseq.end_1=10839929;refseq.end_2=10839929;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1280;refseq.mrnaCoord_2=1142;refseq.name2_1=ATP6V1C2;refseq.name2_2=ATP6V1C2;refseq.name_1=NM_001039362;refseq.name_2=NM_144583;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V391L;refseq.proteinCoordStr_2=p.V345L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=10839929;refseq.start_2=10839929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT 0/1 chr2 10850700 . C T 348.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.92;MQ0=0;OQ=9122.51;QD=39.49;RankSumP=1.00000;SB=-2503.07;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.426G>A;refseq.codonCoord=142;refseq.end=10850700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_005742;refseq.name2=PDIA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R142R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-28;refseq.start=10850700;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr2 10860095 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=3.31339e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.142G>T;refseq.codonCoord=48;refseq.end=10860095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_005742;refseq.name2=PDIA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V48L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-20;refseq.start=10860095;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr2 10860138 . C T 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=6.95;MQ=98.57;MQ0=0;OQ=7090.45;QD=42.46;RankSumP=1.00000;SB=-2194.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.99G>A;refseq.codonCoord=33;refseq.end=10860138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_005742;refseq.name2=PDIA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S33S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-63;refseq.start=10860138;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr2 10970107 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.500000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.104T>G;refseq.codonCoord=35;refseq.end=10970107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_002236;refseq.name2=KCNF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V35G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=594;refseq.start=10970107;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 10970471 . A G 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=832.11;QD=32.00;RankSumP=1.00000;SB=-40.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.468A>G;refseq.codonCoord=156;refseq.end=10970471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=958;refseq.name=NM_002236;refseq.name2=KCNF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A156A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=958;refseq.start=10970471;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr2 10970700 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.697T>G;refseq.codonCoord=233;refseq.end=10970700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_002236;refseq.name2=KCNF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F233V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-1103;refseq.start=10970700;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr2 10971191 . C T 157.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=299;Dels=0.00;HRun=1;HaplotypeScore=10.73;MQ=98.67;MQ0=0;OQ=5996.83;QD=20.06;RankSumP=0.142522;SB=-1717.18;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1188C>T;refseq.codonCoord=396;refseq.end=10971191;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_002236;refseq.name2=KCNF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I396I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-612;refseq.start=10971191;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr2 11269316 . T C 151.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=3.72;MQ=98.86;MQ0=0;OQ=5018.17;QD=15.83;RankSumP=0.202491;SB=-1357.73;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2145A>G;refseq.codonCoord=715;refseq.end=11269316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2594;refseq.name=NM_004850;refseq.name2=ROCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L715L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-59;refseq.start=11269316;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 11276571 . G T 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=3;HaplotypeScore=4.23;MQ=98.95;MQ0=0;OQ=9292.39;QD=40.23;RankSumP=1.00000;SB=-4599.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1292C>A;refseq.codonCoord=431;refseq.end=11276571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1741;refseq.name=NM_004850;refseq.name2=ROCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T431N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-29;refseq.start=11276571;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 11307358 . C T 228.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.98;MQ0=0;OQ=4551.95;QD=19.05;RankSumP=0.433968;SB=-1919.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.342G>A;refseq.codonCoord=114;refseq.end=11307358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_004850;refseq.name2=ROCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S114S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=18;refseq.start=11307358;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 11344185 . T C 244.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=99.00;MQ0=0;OQ=6523.87;QD=19.13;RankSumP=0.192968;SB=-1621.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.255A>G;refseq.codonCoord=85;refseq.end=11344185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_004850;refseq.name2=ROCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L85L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=32;refseq.start=11344185;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 11620112 . A C 61.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=3;HaplotypeScore=4.27;MQ=98.26;MQ0=0;OQ=7138.61;QD=36.99;RankSumP=1.00000;SB=-1845.18;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.230A>C;refseq.codingCoordStr_2=c.230A>C;refseq.codingCoordStr_3=c.230A>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.codonCoord_3=77;refseq.end_1=11620112;refseq.end_2=11620112;refseq.end_3=11620112;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=481;refseq.mrnaCoord_3=546;refseq.name2_1=GREB1;refseq.name2_2=GREB1;refseq.name2_3=GREB1;refseq.name_1=NM_014668;refseq.name_2=NM_033090;refseq.name_3=NM_148903;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N77T;refseq.proteinCoordStr_2=p.N77T;refseq.proteinCoordStr_3=p.N77T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=11620112;refseq.start_2=11620112;refseq.start_3=11620112;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr2 11655542 . T C 385.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.85;MQ0=0;OQ=3708.82;QD=37.09;RankSumP=1.00000;SB=-1114.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2139T>C;refseq.codonCoord=713;refseq.end=11655542;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2439;refseq.name=NM_014668;refseq.name2=GREB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H713H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-14;refseq.start=11655542;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr2 11670086 . T C 269.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=98.40;MQ0=0;OQ=10397.18;QD=37.53;RankSumP=1.00000;SB=-2790.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3021T>C;refseq.codonCoord=1007;refseq.end=11670086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3321;refseq.name=NM_014668;refseq.name2=GREB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1007I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=15;refseq.start=11670086;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 11675967 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=79;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.15;MQ0=0;OQ=1375.73;QD=17.41;RankSumP=0.195292;SB=-80.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3515C>G;refseq.codonCoord=1172;refseq.end=11675967;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3815;refseq.name=NM_014668;refseq.name2=GREB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1172G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=103;refseq.start=11675967;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr2 11691775 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=342;Dels=0.00;HRun=1;HaplotypeScore=14.70;MQ=98.64;MQ0=0;OQ=7119.77;QD=20.82;RankSumP=0.0985903;SB=-2471.86;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.5059G>A;refseq.codonCoord=1687;refseq.end=11691775;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5359;refseq.name=NM_014668;refseq.name2=GREB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1687N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=68;refseq.start=11691775;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr2 11860533 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.64;MQ0=0;OQ=2026.51;QD=20.47;RankSumP=0.277395;SB=-232.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1828C>T;refseq.codonCoord=610;refseq.end=11860533;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1895;refseq.name=NM_145693;refseq.name2=LPIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P610S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=50;refseq.start=11860533;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 15276503 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.00618e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.6277C>G;refseq.codonCoord=2093;refseq.end=15276503;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6303;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2093G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=41;refseq.start=15276503;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 15518892 . C T 213.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=9.51;MQ=98.09;MQ0=0;OQ=5793.73;QD=41.98;RankSumP=1.00000;SB=-2595.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2223G>A;refseq.codonCoord=741;refseq.end=15518892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2249;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L741L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=21;refseq.start=15518892;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 15525293 . T C 90.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3885.76;QD=39.65;RankSumP=1.00000;SB=-1557.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1964A>G;refseq.codonCoord=655;refseq.end=15525293;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.K655R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-55;refseq.start=15525293;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr2 15531855 . T C 248 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2711.40;QD=42.37;RankSumP=1.00000;SB=-794.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1386A>G;refseq.codonCoord=462;refseq.end=15531855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1412;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R462R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=45;refseq.start=15531855;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr2 15533361 . A G 196.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=8.93;MQ=98.31;MQ0=0;OQ=5668.60;QD=37.29;RankSumP=1.00000;SB=-2197.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1242T>C;refseq.codonCoord=414;refseq.end=15533361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S414S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=95;refseq.start=15533361;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr2 15592137 . T C 235.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=510;Dels=0.00;HRun=0;HaplotypeScore=10.14;MQ=98.75;MQ0=0;OQ=20992.24;QD=41.16;RankSumP=1.00000;SB=-7673.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.727A>G;refseq.codonCoord=243;refseq.end=15592137;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_015909;refseq.name2=NBAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I243V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-20;refseq.start=15592137;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr2 15664844 . C T 439.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=98.81;MQ0=0;OQ=8748.24;QD=41.07;RankSumP=1.00000;SB=-1894.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.912C>T;refseq.codonCoord=304;refseq.end=15664844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_004939;refseq.name2=DDX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N304N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-45;refseq.start=15664844;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 17560054 . C T 118.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.95;MQ0=0;OQ=2547.63;QD=12.43;RankSumP=0.411663;SB=-1159.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3110G>A;refseq.codonCoord=1037;refseq.end=17560054;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3134;refseq.name=NM_001099218;refseq.name2=RAD51AP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1037D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-138;refseq.start=17560054;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr2 17560600 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.86;MQ0=0;OQ=1348.98;QD=20.13;RankSumP=0.472826;SB=-524.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2564A>T;refseq.codonCoord=855;refseq.end=17560600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2588;refseq.name=NM_001099218;refseq.name2=RAD51AP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K855M;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-684;refseq.start=17560600;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr2 17562159 . A G 241.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.93;MQ0=0;OQ=1958.30;QD=15.06;RankSumP=0.165811;SB=-830.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1005T>C;refseq.codonCoord=335;refseq.end=17562159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_001099218;refseq.name2=RAD51AP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S335S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1029;refseq.start=17562159;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr2 17806256 . T A 316.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=1.34;MQ=98.77;MQ0=0;OQ=11443.87;QD=39.46;RankSumP=1.00000;SB=-4510.98;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.274T>A;refseq.codingCoordStr_2=c.274T>A;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=17806256;refseq.end_2=17806256;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=347;refseq.name2_1=GEN1;refseq.name2_2=GEN1;refseq.name_1=NM_001130009;refseq.name_2=NM_182625;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S92T;refseq.proteinCoordStr_2=p.S92T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=17806256;refseq.start_2=17806256;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr2 17817508 . G A 292.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.74;MQ0=0;OQ=5200.60;QD=42.28;RankSumP=1.00000;SB=-1506.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.929G>A;refseq.codingCoordStr_2=c.929G>A;refseq.codonCoord_1=310;refseq.codonCoord_2=310;refseq.end_1=17817508;refseq.end_2=17817508;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1143;refseq.mrnaCoord_2=1002;refseq.name2_1=GEN1;refseq.name2_2=GEN1;refseq.name_1=NM_001130009;refseq.name_2=NM_182625;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S310N;refseq.proteinCoordStr_2=p.S310N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=17817508;refseq.start_2=17817508;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr2 17825931 . A G 318.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=4547.41;QD=40.97;RankSumP=1.00000;SB=-1690.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1971A>G;refseq.codingCoordStr_2=c.1971A>G;refseq.codonCoord_1=657;refseq.codonCoord_2=657;refseq.end_1=17825931;refseq.end_2=17825931;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2185;refseq.mrnaCoord_2=2044;refseq.name2_1=GEN1;refseq.name2_2=GEN1;refseq.name_1=NM_001130009;refseq.name_2=NM_182625;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E657E;refseq.proteinCoordStr_2=p.E657E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=563;refseq.spliceDist_2=563;refseq.start_1=17825931;refseq.start_2=17825931;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr2 17825999 . C T 392.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4714.13;QD=41.35;RankSumP=1.00000;SB=-992.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2039C>T;refseq.codingCoordStr_2=c.2039C>T;refseq.codonCoord_1=680;refseq.codonCoord_2=680;refseq.end_1=17825999;refseq.end_2=17825999;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2253;refseq.mrnaCoord_2=2112;refseq.name2_1=GEN1;refseq.name2_2=GEN1;refseq.name_1=NM_001130009;refseq.name_2=NM_182625;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T680I;refseq.proteinCoordStr_2=p.T680I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=631;refseq.spliceDist_2=631;refseq.start_1=17825999;refseq.start_2=17825999;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr2 17861506 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=96.11;MQ0=0;OQ=945.30;QD=12.77;RankSumP=0.255567;SB=-102.11;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.240A>T;refseq.codonCoord=80;refseq.end=17861506;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_001105569;refseq.name2=MSGN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E80D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=240;refseq.start=17861506;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr2 17861576 . C T 122.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.79;MQ0=0;OQ=1073.03;QD=16.77;RankSumP=0.0103967;SB=-393.14;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.310C>T;refseq.codonCoord=104;refseq.end=17861576;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001105569;refseq.name2=MSGN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H104Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-273;refseq.start=17861576;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr2 17861812 . T C 268.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=7.68;MQ=98.58;MQ0=0;OQ=4324.81;QD=19.05;RankSumP=0.216151;SB=-1763.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=17861812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_001105569;refseq.name2=MSGN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L182L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-37;refseq.start=17861812;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr2 17975954 . G A 213.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=5.97;MQ=98.84;MQ0=0;OQ=12845.23;QD=41.71;RankSumP=1.00000;SB=-6261.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.198G>A;refseq.codonCoord=66;refseq.end=17975954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_002252;refseq.name2=KCNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E66E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=257;refseq.start=17975954;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr2 17977104 . A G 250.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=7.25;MQ=98.96;MQ0=0;OQ=9265.62;QD=18.83;RankSumP=0.132073;SB=-3641.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1348A>G;refseq.codonCoord=450;refseq.end=17977104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1728;refseq.name=NM_002252;refseq.name2=KCNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T450A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-603;refseq.start=17977104;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr2 18600094 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=383;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=98.89;MQ0=0;OQ=7855.24;QD=20.51;RankSumP=0.155347;SB=-2991.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.855T>C;refseq.codonCoord=285;refseq.end=18600094;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=976;refseq.name=NM_020905;refseq.name2=RDH14;refseq.positionType=CDS;refseq.proteinCoordStr=p.T285T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=462;refseq.start=18600094;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr2 19961109 . A C 26.27 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=112;Dels=0.00;HRun=3;HaplotypeScore=0.82;MQ=98.57;MQ0=0;QD=0.23;RankSumP=0.00000;SB=245.75;SecondBestBaseQ=18;refseq.chr=chr2;refseq.codingCoordStr=c.316+2;refseq.end=19961109;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001008237;refseq.name2=TTC32;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=19961109;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr2 19994560 . T C 173.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=8.34;MQ=98.86;MQ0=0;OQ=6567.96;QD=21.05;RankSumP=0.385419;SB=-2640.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2948A>G;refseq.codingCoordStr_2=c.2915A>G;refseq.codonCoord_1=983;refseq.codonCoord_2=972;refseq.end_1=19994560;refseq.end_2=19994560;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3056;refseq.mrnaCoord_2=3023;refseq.name2_1=WDR35;refseq.name2_2=WDR35;refseq.name_1=NM_001006657;refseq.name_2=NM_020779;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E983G;refseq.proteinCoordStr_2=p.E972G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=19994560;refseq.start_2=19994560;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr2 20267275 . A T 91.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=6.01;MQ=96.14;MQ0=0;OQ=2216.96;QD=28.79;RankSumP=1.00000;SB=-757.41;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.407T>A;refseq.codingCoordStr_2=c.407T>A;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=20267275;refseq.end_2=20267275;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=798;refseq.mrnaCoord_2=706;refseq.name2_1=SDC1;refseq.name2_2=SDC1;refseq.name_1=NM_001006946;refseq.name_2=NM_002997;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L136Q;refseq.proteinCoordStr_2=p.L136Q;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-221;refseq.spliceDist_2=-221;refseq.start_1=20267275;refseq.start_2=20267275;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr2 20314926 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=325;Dels=0.00;HRun=0;HaplotypeScore=9.70;MQ=98.76;MQ0=0;OQ=5984.95;QD=18.42;RankSumP=0.314140;SB=-1770.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3096C>T;refseq.codonCoord=1032;refseq.end=20314926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3119;refseq.name=NM_015317;refseq.name2=PUM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1032Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=33;refseq.start=20314926;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr2 20682245 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=7.71;MQ=98.27;MQ0=0;OQ=1207.38;QD=11.08;RankSumP=0.357689;SB=-317.21;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1162G>A;refseq.codonCoord=388;refseq.end=20682245;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_022460;refseq.name2=HS1BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A388T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=242;refseq.start=20682245;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr2 20687205 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.64;MQ=98.34;MQ0=0;OQ=1139.66;QD=26.50;RankSumP=1.00000;SB=-435.51;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.852A>G;refseq.codonCoord=284;refseq.end=20687205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_022460;refseq.name2=HS1BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P284P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=68;refseq.start=20687205;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 20687979 . C T 348.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=54;Dels=0.02;HRun=0;HaplotypeScore=1.75;MQ=98.74;MQ0=0;OQ=1886.48;QD=34.93;RankSumP=1.00000;SB=-689.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.778G>A;refseq.codonCoord=260;refseq.end=20687979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=819;refseq.name=NM_022460;refseq.name2=HS1BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V260M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=20687979;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr2 20701703 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=98.44;MQ0=0;OQ=1917.29;QD=10.31;RankSumP=0.468816;SB=-478.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.597G>A;refseq.codonCoord=199;refseq.end=20701703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_022460;refseq.name2=HS1BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E199E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-27;refseq.start=20701703;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 21078786 . C T 272.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2402.30;QD=42.15;RankSumP=1.00000;SB=-1094.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.13013G>A;refseq.codonCoord=4338;refseq.end=21078786;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=13141;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4338N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=926;refseq.start=21078786;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 21079005 . A G 226.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.93;MQ0=0;OQ=8426.57;QD=20.16;RankSumP=0.270233;SB=-2934.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12794T>C;refseq.codonCoord=4265;refseq.end=21079005;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12922;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4265A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=707;refseq.start=21079005;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr2 21079258 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=2;HaplotypeScore=3.66;MQ=98.75;MQ0=0;OQ=3043.23;QD=15.22;RankSumP=0.228432;SB=-1153.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12541G>A;refseq.codonCoord=4181;refseq.end=21079258;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12669;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E4181K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=454;refseq.start=21079258;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr2 21079402 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12397G>C;refseq.codonCoord=4133;refseq.end=21079402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12525;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4133P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=310;refseq.start=21079402;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr2 21080726 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12007T>C;refseq.codonCoord=4003;refseq.end=21080726;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12135;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4003P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-81;refseq.start=21080726;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 21085700 . G A 283.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=5597.29;QD=19.37;RankSumP=0.324038;SB=-2025.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.7545C>T;refseq.codonCoord=2515;refseq.end=21085700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7673;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2515T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3329;refseq.start=21085700;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr2 21086308 . T C 299.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=7.77;MQ=98.86;MQ0=0;OQ=13293.82;QD=39.45;RankSumP=1.00000;SB=-6113.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.6937A>G;refseq.codonCoord=2313;refseq.end=21086308;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7065;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2313V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=2721;refseq.start=21086308;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr2 21086309 . G A 192.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=15.92;MQ=98.86;MQ0=0;OQ=6582.92;QD=19.65;RankSumP=0.417276;SB=-2641.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.6936C>T;refseq.codonCoord=2312;refseq.end=21086309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7064;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2312D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=2720;refseq.start=21086309;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr2 21088980 . T C 255.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=10394.27;QD=40.92;RankSumP=1.00000;SB=-5046.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4265A>G;refseq.codonCoord=1422;refseq.end=21088980;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4393;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1422C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=49;refseq.start=21088980;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr2 21092847 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=1.94613e-06;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3301A>C;refseq.codonCoord=1101;refseq.end=21092847;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3429;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1101L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-32;refseq.start=21092847;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr2 21099318 . G A 282.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.79;MQ0=0;OQ=4456.38;QD=16.09;RankSumP=0.360083;SB=-948.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2706C>T;refseq.codonCoord=902;refseq.end=21099318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2834;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N902N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=102;refseq.start=21099318;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr2 21104419 . G A 179.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=98.90;MQ0=0;OQ=16331.97;QD=43.21;RankSumP=1.00000;SB=-6012.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1853C>T;refseq.codonCoord=618;refseq.end=21104419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1981;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A618V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=24;refseq.start=21104419;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr2 21111213 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.884A>C;refseq.codonCoord=295;refseq.end=21111213;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_000384;refseq.name2=APOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N295T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-21;refseq.start=21111213;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 24196009 . T C 203.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=427;Dels=0.00;HRun=1;HaplotypeScore=6.25;MQ=98.72;MQ0=0;OQ=6997.57;QD=16.39;RankSumP=0.322227;SB=-2192.29;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.303A>G;refseq.codonCoord=101;refseq.end=24196009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_199346;refseq.name2=PFN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V101V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=48;refseq.start=24196009;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 24197564 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=1;HaplotypeScore=14.65;MQ=98.71;MQ0=0;OQ=6244.16;QD=17.89;RankSumP=0.307055;SB=-2143.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.228A>C;refseq.codonCoord=76;refseq.end=24197564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_199346;refseq.name2=PFN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A76A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-28;refseq.start=24197564;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr2 24266802 . A G 128.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=613.10;QD=14.60;RankSumP=0.249334;SB=-246.61;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.419A>G;refseq.codonCoord=140;refseq.end=24266802;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_001040710;refseq.name2=C2orf84;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y140C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=18;refseq.start=24266802;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr2 24284688 . C T 144 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.68;MQ0=0;OQ=1161.86;QD=13.35;RankSumP=0.115037;SB=-449.40;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4600G>A;refseq.codingCoordStr_2=c.4519G>A;refseq.codonCoord_1=1534;refseq.codonCoord_2=1507;refseq.end_1=24284688;refseq.end_2=24284688;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4858;refseq.mrnaCoord_2=4777;refseq.name2_1=ITSN2;refseq.name2_2=ITSN2;refseq.name_1=NM_006277;refseq.name_2=NM_019595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1534T;refseq.proteinCoordStr_2=p.A1507T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=24284688;refseq.start_2=24284688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr2 24286343 . A G 243.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=6.76;MQ=98.85;MQ0=0;OQ=2108.90;QD=20.88;RankSumP=0.463199;SB=-662.06;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4321T>C;refseq.codingCoordStr_2=c.4240T>C;refseq.codonCoord_1=1441;refseq.codonCoord_2=1414;refseq.end_1=24286343;refseq.end_2=24286343;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4579;refseq.mrnaCoord_2=4498;refseq.name2_1=ITSN2;refseq.name2_2=ITSN2;refseq.name_1=NM_006277;refseq.name_2=NM_019595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1441L;refseq.proteinCoordStr_2=p.L1414L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=24286343;refseq.start_2=24286343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr2 24378462 . C T 329.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.89;MQ0=0;OQ=4639.84;QD=20.81;RankSumP=0.399939;SB=-1428.81;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.871G>A;refseq.codingCoordStr_2=c.871G>A;refseq.codingCoordStr_3=c.871G>A;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.codonCoord_3=291;refseq.end_1=24378462;refseq.end_2=24378462;refseq.end_3=24378462;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1129;refseq.mrnaCoord_2=1129;refseq.mrnaCoord_3=1129;refseq.name2_1=ITSN2;refseq.name2_2=ITSN2;refseq.name2_3=ITSN2;refseq.name_1=NM_006277;refseq.name_2=NM_019595;refseq.name_3=NM_147152;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V291I;refseq.proteinCoordStr_2=p.V291I;refseq.proteinCoordStr_3=p.V291I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=24378462;refseq.start_2=24378462;refseq.start_3=24378462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr2 24386907 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.511A>C;refseq.codingCoordStr_2=c.511A>C;refseq.codingCoordStr_3=c.511A>C;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.end_1=24386907;refseq.end_2=24386907;refseq.end_3=24386907;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=769;refseq.mrnaCoord_2=769;refseq.mrnaCoord_3=769;refseq.name2_1=ITSN2;refseq.name2_2=ITSN2;refseq.name2_3=ITSN2;refseq.name_1=NM_006277;refseq.name_2=NM_019595;refseq.name_3=NM_147152;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T171P;refseq.proteinCoordStr_2=p.T171P;refseq.proteinCoordStr_3=p.T171P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.start_1=24386907;refseq.start_2=24386907;refseq.start_3=24386907;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr2 24759431 . G C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=10.71;MQ=98.79;MQ0=0;OQ=11852.20;QD=48.98;RankSumP=1.00000;SB=-4845.77;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.462G>C;refseq.codingCoordStr_2=c.462G>C;refseq.codingCoordStr_3=c.462G>C;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.codonCoord_3=154;refseq.end_1=24759431;refseq.end_2=24759431;refseq.end_3=24759431;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=720;refseq.mrnaCoord_2=720;refseq.mrnaCoord_3=720;refseq.name2_1=NCOA1;refseq.name2_2=NCOA1;refseq.name2_3=NCOA1;refseq.name_1=NM_003743;refseq.name_2=NM_147223;refseq.name_3=NM_147233;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T154T;refseq.proteinCoordStr_2=p.T154T;refseq.proteinCoordStr_3=p.T154T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.spliceDist_3=-71;refseq.start_1=24759431;refseq.start_2=24759431;refseq.start_3=24759431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr2 24828449 . T G 291.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=98.76;MQ0=0;OQ=10816.42;QD=37.04;RankSumP=1.00000;SB=-4969.14;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3801T>G;refseq.codingCoordStr_2=c.3801T>G;refseq.codingCoordStr_3=c.3801T>G;refseq.codonCoord_1=1267;refseq.codonCoord_2=1267;refseq.codonCoord_3=1267;refseq.end_1=24828449;refseq.end_2=24828449;refseq.end_3=24828449;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4059;refseq.mrnaCoord_2=4059;refseq.mrnaCoord_3=4059;refseq.name2_1=NCOA1;refseq.name2_2=NCOA1;refseq.name2_3=NCOA1;refseq.name_1=NM_003743;refseq.name_2=NM_147223;refseq.name_3=NM_147233;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L1267L;refseq.proteinCoordStr_2=p.L1267L;refseq.proteinCoordStr_3=p.L1267L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=24828449;refseq.start_2=24828449;refseq.start_3=24828449;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr2 24834433 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.18466e-09;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3969T>G;refseq.codingCoordStr_2=c.3969T>G;refseq.codingCoordStr_3=c.3969T>G;refseq.codonCoord_1=1323;refseq.codonCoord_2=1323;refseq.codonCoord_3=1323;refseq.end_1=24834433;refseq.end_2=24834433;refseq.end_3=24834433;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4227;refseq.mrnaCoord_2=4227;refseq.mrnaCoord_3=4227;refseq.name2_1=NCOA1;refseq.name2_2=NCOA1;refseq.name2_3=NCOA1;refseq.name_1=NM_003743;refseq.name_2=NM_147223;refseq.name_3=NM_147233;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1323G;refseq.proteinCoordStr_2=p.G1323G;refseq.proteinCoordStr_3=p.G1323G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=88;refseq.start_1=24834433;refseq.start_2=24834433;refseq.start_3=24834433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr2 24876102 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.98;MQ0=0;OQ=2095.82;QD=17.47;RankSumP=0.158848;SB=-172.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.101A>G;refseq.codonCoord=34;refseq.end=24876102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_024322;refseq.name2=CENPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q34R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=55;refseq.start=24876102;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr2 24897921 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.66;MQ0=0;OQ=1024.00;QD=18.62;RankSumP=0.612403;SB=-419.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3096C>T;refseq.codonCoord=1032;refseq.end=24897921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3295;refseq.name=NM_004036;refseq.name2=ADCY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1032N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-32;refseq.start=24897921;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr2 24899594 . T C 307.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=98.54;MQ0=0;OQ=9081.79;QD=38.16;RankSumP=1.00000;SB=-3751.77;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2871A>G;refseq.codonCoord=957;refseq.end=24899594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3070;refseq.name=NM_004036;refseq.name2=ADCY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S957S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-13;refseq.start=24899594;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 24904481 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=14.54;MQ=97.01;MQ0=0;OQ=2329.63;QD=23.53;RankSumP=1.00000;SB=-959.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2226A>G;refseq.codonCoord=742;refseq.end=24904481;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2425;refseq.name=NM_004036;refseq.name2=ADCY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E742E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=54;refseq.start=24904481;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 24917697 . G A 169.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.72;MQ0=0;OQ=1234.62;QD=30.87;RankSumP=1.00000;SB=-249.81;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=24917697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1330;refseq.name=NM_004036;refseq.name2=ADCY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P377P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=63;refseq.start=24917697;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr2 25048245 . G A 177.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=6.45;MQ=97.50;MQ0=0;OQ=4366.75;QD=36.09;RankSumP=1.00000;SB=-2093.05;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.33C>T;refseq.codonCoord=11;refseq.end=25048245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_016544;refseq.name2=DNAJC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.P11P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-55;refseq.start=25048245;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr2 25237541 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.717T>G;refseq.codingCoordStr_2=c.717T>G;refseq.codonCoord_1=239;refseq.codonCoord_2=239;refseq.end_1=25237541;refseq.end_2=25237541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=930;refseq.mrnaCoord_2=980;refseq.name2_1=POMC;refseq.name2_2=POMC;refseq.name_1=NM_000939;refseq.name_2=NM_001035256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G239G;refseq.proteinCoordStr_2=p.G239G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-316;refseq.spliceDist_2=-316;refseq.start_1=25237541;refseq.start_2=25237541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 25323006 . C T 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=480.18;QD=24.01;RankSumP=0.367712;SB=-152.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1266G>A;refseq.codingCoordStr_2=c.699G>A;refseq.codingCoordStr_3=c.1266G>A;refseq.codonCoord_1=422;refseq.codonCoord_2=233;refseq.codonCoord_3=422;refseq.end_1=25323006;refseq.end_2=25323006;refseq.end_3=25323006;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1523;refseq.mrnaCoord_2=813;refseq.mrnaCoord_3=1604;refseq.name2_1=DNMT3A;refseq.name2_2=DNMT3A;refseq.name2_3=DNMT3A;refseq.name_1=NM_022552;refseq.name_2=NM_153759;refseq.name_3=NM_175629;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L422L;refseq.proteinCoordStr_2=p.L233L;refseq.proteinCoordStr_3=p.L422L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=25323006;refseq.start_2=25323006;refseq.start_3=25323006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 0/1 chr2 26056885 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1406A>G;refseq.codonCoord=469;refseq.end=26056885;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2063;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E469G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-140;refseq.start=26056885;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 26057182 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=2;HaplotypeScore=2.45;MQ=98.58;MQ0=0;OQ=7589.65;QD=38.33;RankSumP=1.00000;SB=-3131.46;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1109A>G;refseq.codonCoord=370;refseq.end=26057182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1766;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q370R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-437;refseq.start=26057182;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 26057228 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1063A>C;refseq.codonCoord=355;refseq.end=26057228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1720;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T355P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-483;refseq.start=26057228;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 26057501 . C G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=150;Dels=0.00;HRun=1;HaplotypeScore=42.31;MQ=95.42;MQ0=0;OQ=98.06;QD=0.65;RankSumP=0.000175833;SB=62.23;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.790G>C;refseq.codonCoord=264;refseq.end=26057501;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1447;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-756;refseq.start=26057501;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr2 26057505 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.786A>G;refseq.codonCoord=262;refseq.end=26057505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G262G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-760;refseq.start=26057505;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 26058144 . G A 274.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=4.59;MQ=98.90;MQ0=0;OQ=6265.04;QD=39.40;RankSumP=1.00000;SB=-2750.76;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.147C>T;refseq.codonCoord=49;refseq.end=26058144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_002254;refseq.name2=KIF3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A49A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=804;refseq.start=26058144;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 26308631 . G A 341.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=98.29;MQ0=0;OQ=4293.49;QD=41.28;RankSumP=1.00000;SB=-1540.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.474C>T;refseq.codonCoord=158;refseq.end=26308631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=604;refseq.name=NM_000182;refseq.name2=HADHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y158Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=21;refseq.start=26308631;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr2 26330628 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.631818;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2T>C;refseq.codonCoord=1;refseq.end=26330628;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=26330628;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr2 26330629 . G T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.342857;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3G>T;refseq.codonCoord=1;refseq.end=26330629;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=11;refseq.start=26330629;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 0/1 chr2 26330634 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.363636;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8T>C;refseq.codonCoord=3;refseq.end=26330634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I3T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=16;refseq.start=26330634;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 26353517 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.000124325;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.427C>A;refseq.codonCoord=143;refseq.end=26353517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q143K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-16;refseq.start=26353517;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr2 26355032 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=481;Dels=0.00;HRun=2;HaplotypeScore=38.39;MQ=98.60;MQ0=0;OQ=387.40;QD=0.81;RankSumP=0.00000;SB=655.15;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.489T>G;refseq.codonCoord=163;refseq.end=26355032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G163G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=47;refseq.start=26355032;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 26355035 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.492T>G;refseq.codonCoord=164;refseq.end=26355035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G164G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=50;refseq.start=26355035;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 26356379 . T C 431.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.89;MQ0=0;OQ=8359.84;QD=40.39;RankSumP=1.00000;SB=-1648.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.825T>C;refseq.codonCoord=275;refseq.end=26356379;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1076;refseq.name=NM_000183;refseq.name2=HADHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V275V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=14;refseq.start=26356379;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 26500781 . T G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2049.65;QD=38.67;RankSumP=1.00000;SB=-646.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.495T>G;refseq.codonCoord=165;refseq.end=26500781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_145038;refseq.name2=C2orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.A165A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-46;refseq.start=26500781;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr2 26520634 . A G 103.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.80;MQ0=0;OQ=2019.10;QD=11.74;RankSumP=0.484929;SB=-902.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1069A>G;refseq.codonCoord=357;refseq.end=26520634;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_145038;refseq.name2=C2orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.K357E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=41;refseq.start=26520634;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr2 26521119 . T C 318.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.88;MQ0=0;OQ=3768.26;QD=38.45;RankSumP=1.00000;SB=-945.98;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1195T>C;refseq.codonCoord=399;refseq.end=26521119;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_145038;refseq.name2=C2orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.W399R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=32;refseq.start=26521119;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 26529826 . A G 225.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.92;MQ0=0;OQ=5909.30;QD=39.66;RankSumP=1.00000;SB=-2738.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1824A>G;refseq.codonCoord=608;refseq.end=26529826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_145038;refseq.name2=C2orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.E608E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-96;refseq.start=26529826;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 26552630 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=93.34;MQ0=0;OQ=595.97;QD=11.69;RankSumP=0.642160;SB=-33.41;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.495G>C;refseq.codingCoordStr_2=c.2736G>C;refseq.codingCoordStr_3=c.666G>C;refseq.codingCoordStr_4=c.495G>C;refseq.codonCoord_1=165;refseq.codonCoord_2=912;refseq.codonCoord_3=222;refseq.codonCoord_4=165;refseq.end_1=26552630;refseq.end_2=26552630;refseq.end_3=26552630;refseq.end_4=26552630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=2863;refseq.mrnaCoord_3=815;refseq.mrnaCoord_4=721;refseq.name2_1=OTOF;refseq.name2_2=OTOF;refseq.name2_3=OTOF;refseq.name2_4=OTOF;refseq.name_1=NM_004802;refseq.name_2=NM_194248;refseq.name_3=NM_194322;refseq.name_4=NM_194323;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L165L;refseq.proteinCoordStr_2=p.L912L;refseq.proteinCoordStr_3=p.L222L;refseq.proteinCoordStr_4=p.L165L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.start_1=26552630;refseq.start_2=26552630;refseq.start_3=26552630;refseq.start_4=26552630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/0 chr2 26553359 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=98.94;MQ0=0;OQ=1003.23;QD=20.90;RankSumP=0.397014;SB=-264.72;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.339C>G;refseq.codingCoordStr_2=c.2580C>G;refseq.codingCoordStr_3=c.510C>G;refseq.codingCoordStr_4=c.339C>G;refseq.codonCoord_1=113;refseq.codonCoord_2=860;refseq.codonCoord_3=170;refseq.codonCoord_4=113;refseq.end_1=26553359;refseq.end_2=26553359;refseq.end_3=26553359;refseq.end_4=26553359;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=565;refseq.mrnaCoord_2=2707;refseq.mrnaCoord_3=659;refseq.mrnaCoord_4=565;refseq.name2_1=OTOF;refseq.name2_2=OTOF;refseq.name2_3=OTOF;refseq.name2_4=OTOF;refseq.name_1=NM_004802;refseq.name_2=NM_194248;refseq.name_3=NM_194322;refseq.name_4=NM_194323;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V113V;refseq.proteinCoordStr_2=p.V860V;refseq.proteinCoordStr_3=p.V170V;refseq.proteinCoordStr_4=p.V113V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.spliceDist_4=57;refseq.start_1=26553359;refseq.start_2=26553359;refseq.start_3=26553359;refseq.start_4=26553359;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 0/1 chr2 26592927 . T C 198.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=3309.03;QD=38.03;RankSumP=1.00000;SB=-1420.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.372A>G;refseq.codonCoord=124;refseq.end=26592927;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_194248;refseq.name2=OTOF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T124T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=45;refseq.start=26592927;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 26652275 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.76T>G;refseq.codonCoord=26;refseq.end=26652275;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=76;refseq.name=NM_001105519;refseq.name2=C2orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y26D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=26652275;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr2 26652397 . A T 144.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=12.55;MQ=98.46;MQ0=0;OQ=14257.10;QD=33.78;RankSumP=1.00000;SB=-6479.17;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.198A>T;refseq.codonCoord=66;refseq.end=26652397;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_001105519;refseq.name2=C2orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q66H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=124;refseq.start=26652397;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 26652535 . G A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.18;MQ0=0;OQ=2379.20;QD=40.33;RankSumP=1.00000;SB=-355.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.336G>A;refseq.codonCoord=112;refseq.end=26652535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_001105519;refseq.name2=C2orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.T112T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-13;refseq.start=26652535;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 26657751 . T C 303.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=98.79;MQ0=0;OQ=7614.69;QD=35.58;RankSumP=1.00000;SB=-3747.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.542A>G;refseq.codonCoord=181;refseq.end=26657751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001029881;refseq.name2=CIB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H181R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=15;refseq.start=26657751;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr2 26804247 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.23538e-08;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=26804247;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_002246;refseq.name2=KCNK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F164F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=209;refseq.start=26804247;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr2 27023346 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=10.15;MQ=98.64;MQ0=0;OQ=1269.90;QD=10.67;RankSumP=0.481082;SB=-237.16;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1674C>A;refseq.codonCoord=558;refseq.end=27023346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_020134;refseq.name2=DPYSL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G558G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=65;refseq.start=27023346;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr2 27099789 . C T 141.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.64;MQ0=0;OQ=1526.09;QD=14.00;RankSumP=0.208391;SB=-475.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.207C>T;refseq.codonCoord=69;refseq.end=27099789;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_012326;refseq.name2=MAPRE3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H69H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-61;refseq.start=27099789;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr2 27157259 . A G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=97.18;MQ0=0;OQ=1383.15;QD=31.44;RankSumP=1.00000;SB=-354.56;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.446A>G;refseq.codonCoord=149;refseq.end=27157259;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=945;refseq.name=NM_007046;refseq.name2=EMILIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q149R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-66;refseq.start=27157259;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 27168756 . G A 219.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.61;MQ0=0;OQ=1503.27;QD=14.88;RankSumP=0.301365;SB=-732.38;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.145G>A;refseq.codingCoordStr_2=c.145G>A;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=27168756;refseq.end_2=27168756;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=662;refseq.mrnaCoord_2=662;refseq.name2_1=KHK;refseq.name2_2=KHK;refseq.name_1=NM_000221;refseq.name_2=NM_006488;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V49I;refseq.proteinCoordStr_2=p.V49I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=27168756;refseq.start_2=27168756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr2 27178228 . G C 181.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=98.52;MQ0=0;OQ=2478.86;QD=13.47;RankSumP=0.352423;SB=-1150.64;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.375C>G;refseq.codingCoordStr_3=c.87C>G;refseq.codingCoordStr_4=c.375C>G;refseq.codonCoord_2=125;refseq.codonCoord_3=29;refseq.codonCoord_4=125;refseq.end_1=27178458;refseq.end_2=27178228;refseq.end_3=27178228;refseq.end_4=27178228;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=517;refseq.mrnaCoord_3=725;refseq.mrnaCoord_4=668;refseq.name2_1=CGREF1;refseq.name2_2=CGREF1;refseq.name2_3=CGREF1;refseq.name2_4=CGREF1;refseq.name_1=NM_001166240;refseq.name_2=NM_001166239;refseq.name_3=NM_001166241;refseq.name_4=NM_006569;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T125T;refseq.proteinCoordStr_3=p.T29T;refseq.proteinCoordStr_4=p.T125T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=27176223;refseq.start_2=27178228;refseq.start_3=27178228;refseq.start_4=27178228;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr2 27178255 . G T 99.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=98.84;MQ0=0;OQ=2077.51;QD=11.61;RankSumP=0.460381;SB=-1053.70;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.348C>A;refseq.codingCoordStr_3=c.60C>A;refseq.codingCoordStr_4=c.348C>A;refseq.codonCoord_2=116;refseq.codonCoord_3=20;refseq.codonCoord_4=116;refseq.end_1=27178458;refseq.end_2=27178255;refseq.end_3=27178255;refseq.end_4=27178255;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=490;refseq.mrnaCoord_3=698;refseq.mrnaCoord_4=641;refseq.name2_1=CGREF1;refseq.name2_2=CGREF1;refseq.name2_3=CGREF1;refseq.name2_4=CGREF1;refseq.name_1=NM_001166240;refseq.name_2=NM_001166239;refseq.name_3=NM_001166241;refseq.name_4=NM_006569;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I116I;refseq.proteinCoordStr_3=p.I20I;refseq.proteinCoordStr_4=p.I116I;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceDist_4=6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.spliceInfo_4=splice-acceptor_6;refseq.start_1=27176223;refseq.start_2=27178255;refseq.start_3=27178255;refseq.start_4=27178255;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 0/1 chr2 27205452 . T G 265.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=98.85;MQ0=0;OQ=13542.61;QD=38.15;RankSumP=1.00000;SB=-6757.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.411T>G;refseq.codonCoord=137;refseq.end=27205452;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_032604;refseq.name2=ABHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D137E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-48;refseq.start=27205452;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 27278140 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=98.73;MQ0=0;OQ=1062.74;QD=19.32;RankSumP=0.0555495;SB=-276.26;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.1442C>T;refseq.codonCoord_2=481;refseq.end_1=27278140;refseq.end_2=27278140;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2289;refseq.mrnaCoord_2=1937;refseq.name2_1=SLC5A6;refseq.name2_2=SLC5A6;refseq.name_1=NR_028323;refseq.name_2=NM_021095;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S481F;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=27278140;refseq.start_2=27278140;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr2 27281799 . A G 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=20.82;MQ=97.94;MQ0=0;OQ=13561.09;QD=34.16;RankSumP=1.00000;SB=-4455.43;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.657T>C;refseq.codonCoord_2=219;refseq.end_1=27281799;refseq.end_2=27281799;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1152;refseq.mrnaCoord_2=1152;refseq.name2_1=SLC5A6;refseq.name2_2=SLC5A6;refseq.name_1=NR_028323;refseq.name_2=NM_021095;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I219I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=27281799;refseq.start_2=27281799;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 27288669 . G A 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=141.19;QD=17.65;RankSumP=0.682540;SB=-73.06;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.-485C>T;refseq.codingCoordStr_3=c.94G>A;refseq.codonCoord_3=32;refseq.end_1=27288669;refseq.end_2=27288669;refseq.end_3=27288669;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=11;refseq.mrnaCoord_2=11;refseq.mrnaCoord_3=267;refseq.name2_1=SLC5A6;refseq.name2_2=SLC5A6;refseq.name2_3=C2orf28;refseq.name_1=NR_028323;refseq.name_2=NM_021095;refseq.name_3=NM_080592;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G32R;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=-171;refseq.start_1=27288669;refseq.start_2=27288669;refseq.start_3=27288669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGG;set=Intersection GT 1/0 chr2 27288754 . A G 34.05 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=97.45;MQ0=0;QD=6.81;RankSumP=0.400000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.14A>G;refseq.codingCoordStr_2=c.-301A>G;refseq.codingCoordStr_3=c.179A>G;refseq.codonCoord_1=5;refseq.codonCoord_3=60;refseq.end_1=27288754;refseq.end_2=27288754;refseq.end_3=27288754;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=32;refseq.mrnaCoord_2=32;refseq.mrnaCoord_3=352;refseq.name2_1=C2orf28;refseq.name2_2=C2orf28;refseq.name2_3=C2orf28;refseq.name_1=NM_001170795;refseq.name_2=NM_016085;refseq.name_3=NM_080592;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D5G;refseq.proteinCoordStr_3=p.D60G;refseq.referenceAA_1=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=-86;refseq.start_1=27288754;refseq.start_2=27288754;refseq.start_3=27288754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr2 27294289 . C T 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=462;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=98.88;MQ0=0;OQ=19024.86;QD=41.18;RankSumP=1.00000;SB=-9405.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.123C>T;refseq.codonCoord=41;refseq.end=27294289;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_004341;refseq.name2=CAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.T41T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=41;refseq.start=27294289;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr2 27294389 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr2;refseq.codingCoordStr=c.222+1;refseq.end=27294389;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_004341;refseq.name2=CAD;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=27294389;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr2 27309878 . G A 140.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=8.03;MQ=98.55;MQ0=0;OQ=4752.30;QD=20.48;RankSumP=0.185902;SB=-1939.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3186G>A;refseq.codonCoord=1062;refseq.end=27309878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3348;refseq.name=NM_004341;refseq.name2=CAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1062Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-31;refseq.start=27309878;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr2 27312868 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=21.97;MQ=98.65;MQ0=0;OQ=7084.08;QD=22.28;RankSumP=0.130817;SB=-2922.73;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4287T>C;refseq.codonCoord=1429;refseq.end=27312868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4449;refseq.name=NM_004341;refseq.name2=CAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1429D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-28;refseq.start=27312868;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr2 27314472 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=13.13;MQ=98.47;MQ0=0;OQ=4398.84;QD=16.92;RankSumP=0.366449;SB=-1108.64;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4773A>G;refseq.codonCoord=1591;refseq.end=27314472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4935;refseq.name=NM_004341;refseq.name2=CAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1591A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=45;refseq.start=27314472;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr2 27331735 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=11.00;MQ=98.39;MQ0=0;OQ=1011.24;QD=14.24;RankSumP=0.0248583;SB=-494.93;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1116T>C;refseq.codonCoord=372;refseq.end=27331735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_003459;refseq.name2=SLC30A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y372Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=98;refseq.start=27331735;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr2 27332853 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.425919;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.923C>T;refseq.codonCoord=308;refseq.end=27332853;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_003459;refseq.name2=SLC30A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T308M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=40;refseq.start=27332853;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/0 chr2 27335133 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=1.03214e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.269A>G;refseq.codonCoord=90;refseq.end=27335133;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_003459;refseq.name2=SLC30A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E90G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=27335133;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 27335156 . A C 208.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=99.79;MQ0=0;OQ=1449.87;QD=15.26;RankSumP=0.382254;SB=-502.79;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.246T>G;refseq.codonCoord=82;refseq.end=27335156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_003459;refseq.name2=SLC30A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V82V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-32;refseq.start=27335156;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr2 27404471 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=2;HaplotypeScore=13.45;MQ=98.82;MQ0=0;OQ=5192.42;QD=19.97;RankSumP=2.57618e-07;SB=-2179.76;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2346T>C;refseq.codingCoordStr_2=c.2346T>C;refseq.codonCoord_1=782;refseq.codonCoord_2=782;refseq.end_1=27404471;refseq.end_2=27404471;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2633;refseq.mrnaCoord_2=2709;refseq.name2_1=GTF3C2;refseq.name2_2=GTF3C2;refseq.name_1=NM_001035521;refseq.name_2=NM_001521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P782P;refseq.proteinCoordStr_2=p.P782P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=27404471;refseq.start_2=27404471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 0/1 chr2 27451915 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=2.78089e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.813C>A;refseq.codonCoord=271;refseq.end=27451915;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_014748;refseq.name2=SNX17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y271*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=39;refseq.start=27451915;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr2 27520801 . A G 198.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.70;MQ0=0;OQ=1692.28;QD=16.43;RankSumP=0.478826;SB=-366.65;SecondBestBaseQ=33;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.*2T>C;refseq.end_1=27522661;refseq.end_2=27520801;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_2=5303;refseq.name2_1=KRTCAP3;refseq.name2_2=IFT172;refseq.name_1=NM_001168364;refseq.name_2=NM_015662;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.spliceDist_2=-58;refseq.start_1=27520443;refseq.start_2=27520801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr2 27529791 . A T 99.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=98.38;MQ0=0;OQ=1146.13;QD=13.98;RankSumP=0.0933432;SB=-582.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3915T>A;refseq.codonCoord=1305;refseq.end=27529791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3966;refseq.name=NM_015662;refseq.name2=IFT172;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1305S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-37;refseq.start=27529791;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 27561492 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.193A>G;refseq.codonCoord=65;refseq.end=27561492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_015662;refseq.name2=IFT172;refseq.positionType=CDS;refseq.proteinCoordStr=p.K65E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=27561492;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr2 27570737 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.234C>A;refseq.codonCoord=78;refseq.end=27570737;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_022823;refseq.name2=FNDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y78*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-16;refseq.start=27570737;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr2 27584444 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=235;Dels=0.00;HRun=1;HaplotypeScore=21.46;MQ=98.25;MQ0=0;OQ=2540.76;QD=10.81;RankSumP=0.207656;SB=-1244.85;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1337T>C;refseq.codonCoord=446;refseq.end=27584444;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1403;refseq.name=NM_001486;refseq.name2=GCKR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L446P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=27584444;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr2 27693861 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1314A>G;refseq.codonCoord=438;refseq.end=27693861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_032434;refseq.name2=ZNF512;refseq.positionType=CDS;refseq.proteinCoordStr=p.G438G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=18;refseq.start=27693861;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 27703739 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.280835;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.918C>T;refseq.codingCoordStr_2=c.432C>T;refseq.codonCoord_1=306;refseq.codonCoord_2=144;refseq.end_1=27703739;refseq.end_2=27703739;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1033;refseq.mrnaCoord_2=632;refseq.name2_1=CCDC121;refseq.name2_2=CCDC121;refseq.name_1=NM_001142683;refseq.name_2=NM_024584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A306A;refseq.proteinCoordStr_2=p.A144A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=550;refseq.spliceDist_2=550;refseq.start_1=27703739;refseq.start_2=27703739;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap GT 1/0 chr2 27703762 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0337016;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.895T>G;refseq.codingCoordStr_2=c.409T>G;refseq.codonCoord_1=299;refseq.codonCoord_2=137;refseq.end_1=27703762;refseq.end_2=27703762;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1010;refseq.mrnaCoord_2=609;refseq.name2_1=CCDC121;refseq.name2_2=CCDC121;refseq.name_1=NM_001142683;refseq.name_2=NM_024584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S299A;refseq.proteinCoordStr_2=p.S137A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=527;refseq.spliceDist_2=527;refseq.start_1=27703762;refseq.start_2=27703762;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=soap GT 0/1 chr2 27703909 . T C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.248848;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.748A>G;refseq.codingCoordStr_2=c.262A>G;refseq.codonCoord_1=250;refseq.codonCoord_2=88;refseq.end_1=27703909;refseq.end_2=27703909;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=462;refseq.name2_1=CCDC121;refseq.name2_2=CCDC121;refseq.name_1=NM_001142683;refseq.name_2=NM_024584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T250A;refseq.proteinCoordStr_2=p.T88A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=380;refseq.spliceDist_2=380;refseq.start_1=27703909;refseq.start_2=27703909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/0 chr2 27704017 . C T 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.176746;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.640G>A;refseq.codingCoordStr_2=c.154G>A;refseq.codonCoord_1=214;refseq.codonCoord_2=52;refseq.end_1=27704017;refseq.end_2=27704017;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=354;refseq.name2_1=CCDC121;refseq.name2_2=CCDC121;refseq.name_1=NM_001142683;refseq.name_2=NM_024584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E214K;refseq.proteinCoordStr_2=p.E52K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=272;refseq.spliceDist_2=272;refseq.start_1=27704017;refseq.start_2=27704017;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=soap GT 0/1 chr2 27704125 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.0598667;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.532A>G;refseq.codingCoordStr_2=c.46A>G;refseq.codonCoord_1=178;refseq.codonCoord_2=16;refseq.end_1=27704125;refseq.end_2=27704125;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=647;refseq.mrnaCoord_2=246;refseq.name2_1=CCDC121;refseq.name2_2=CCDC121;refseq.name_1=NM_001142683;refseq.name_2=NM_024584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K178E;refseq.proteinCoordStr_2=p.K16E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=164;refseq.spliceDist_2=164;refseq.start_1=27704125;refseq.start_2=27704125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr2 27706310 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.09829e-09;SecondBestBaseQ=10;refseq.changesAA_2=false;refseq.changesAA_4=true;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_2=c.156T>C;refseq.codingCoordStr_3=c.-46T>C;refseq.codingCoordStr_4=c.14T>C;refseq.codingCoordStr_5=c.234T>C;refseq.codonCoord_2=52;refseq.codonCoord_4=5;refseq.codonCoord_5=78;refseq.end_1=27706310;refseq.end_2=27706310;refseq.end_3=27706310;refseq.end_4=27706310;refseq.end_5=27706310;refseq.frame_2=2;refseq.frame_4=1;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_4=missense;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=255;refseq.mrnaCoord_2=216;refseq.mrnaCoord_3=148;refseq.mrnaCoord_4=148;refseq.mrnaCoord_5=255;refseq.name2_1=GPN1;refseq.name2_2=GPN1;refseq.name2_3=GPN1;refseq.name2_4=GPN1;refseq.name2_5=GPN1;refseq.name_1=NR_026735;refseq.name_2=NM_001145047;refseq.name_3=NM_001145048;refseq.name_4=NM_001145049;refseq.name_5=NM_007266;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.F52F;refseq.proteinCoordStr_4=p.F5S;refseq.proteinCoordStr_5=p.F78F;refseq.referenceAA_2=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceCodon_2=TTT;refseq.referenceCodon_4=TTC;refseq.referenceCodon_5=TTT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.spliceDist_4=-14;refseq.spliceDist_5=-14;refseq.start_1=27706310;refseq.start_2=27706310;refseq.start_3=27706310;refseq.start_4=27706310;refseq.start_5=27706310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Phe;refseq.variantAA_4=Ser;refseq.variantAA_5=Phe;refseq.variantCodon_2=TTC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TTC;set=FilteredInAll GT 1/0 chr2 27715315 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=220;Dels=0.00;HRun=0;HaplotypeScore=17.69;MQ=98.77;MQ0=0;OQ=4178.69;QD=18.99;RankSumP=0.464743;SB=-1731.11;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_2=c.594A>C;refseq.codingCoordStr_3=c.393A>C;refseq.codingCoordStr_4=c.345A>C;refseq.codingCoordStr_5=c.672A>C;refseq.codonCoord_2=198;refseq.codonCoord_3=131;refseq.codonCoord_4=115;refseq.codonCoord_5=224;refseq.end_1=27715315;refseq.end_2=27715315;refseq.end_3=27715315;refseq.end_4=27715315;refseq.end_5=27715315;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=654;refseq.mrnaCoord_3=586;refseq.mrnaCoord_4=479;refseq.mrnaCoord_5=693;refseq.name2_1=GPN1;refseq.name2_2=GPN1;refseq.name2_3=GPN1;refseq.name2_4=GPN1;refseq.name2_5=GPN1;refseq.name_1=NR_026735;refseq.name_2=NM_001145047;refseq.name_3=NM_001145048;refseq.name_4=NM_001145049;refseq.name_5=NM_007266;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.Q198H;refseq.proteinCoordStr_3=p.Q131H;refseq.proteinCoordStr_4=p.Q115H;refseq.proteinCoordStr_5=p.Q224H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.spliceDist_5=60;refseq.start_1=27715315;refseq.start_2=27715315;refseq.start_3=27715315;refseq.start_4=27715315;refseq.start_5=27715315;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=Intersection GT 0/1 chr2 27740538 . C A 199.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=5.75;MQ=98.25;MQ0=0;OQ=4356.59;QD=32.03;RankSumP=1.00000;SB=-1386.06;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.415C>A;refseq.codonCoord=139;refseq.end=27740538;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_018158;refseq.name2=SLC4A1AP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P139T;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-411;refseq.start=27740538;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 27919574 . T C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=8.78063e-05;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.378A>G;refseq.codonCoord=126;refseq.end=27919574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_022128;refseq.name2=RBKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G126G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=29;refseq.start=27919574;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 28615485 . G C 217.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.95;MQ0=0;OQ=2221.77;QD=20.76;RankSumP=0.245418;SB=-674.54;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.667G>C;refseq.codingCoordStr_2=c.634G>C;refseq.codonCoord_1=223;refseq.codonCoord_2=212;refseq.end_1=28615485;refseq.end_2=28615485;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=711;refseq.mrnaCoord_2=678;refseq.name2_1=PLB1;refseq.name2_2=PLB1;refseq.name_1=NM_001170585;refseq.name_2=NM_153021;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V223L;refseq.proteinCoordStr_2=p.V212L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=28615485;refseq.start_2=28615485;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr2 28678297 . C G 204.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.54;MQ0=0;OQ=16858.31;QD=45.69;RankSumP=1.00000;SB=-4821.58;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2602C>G;refseq.codingCoordStr_2=c.2635C>G;refseq.codonCoord_1=868;refseq.codonCoord_2=879;refseq.end_1=28678297;refseq.end_2=28678297;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2646;refseq.mrnaCoord_2=2679;refseq.name2_1=PLB1;refseq.name2_2=PLB1;refseq.name_1=NM_001170585;refseq.name_2=NM_153021;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H868D;refseq.proteinCoordStr_2=p.H879D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=28678297;refseq.start_2=28678297;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr2 28678307 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=399;Dels=0.00;HRun=0;HaplotypeScore=13.82;MQ=98.61;MQ0=0;OQ=7126.54;QD=17.86;RankSumP=0.156959;SB=-2122.73;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2612G>A;refseq.codingCoordStr_2=c.2645G>A;refseq.codonCoord_1=871;refseq.codonCoord_2=882;refseq.end_1=28678307;refseq.end_2=28678307;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2656;refseq.mrnaCoord_2=2689;refseq.name2_1=PLB1;refseq.name2_2=PLB1;refseq.name_1=NM_001170585;refseq.name_2=NM_153021;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R871H;refseq.proteinCoordStr_2=p.R882H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=28678307;refseq.start_2=28678307;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr2 28708462 . C T 259.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=11.30;MQ=98.44;MQ0=0;OQ=14078.37;QD=40.69;RankSumP=1.00000;SB=-6042.48;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3920C>T;refseq.codingCoordStr_2=c.3953C>T;refseq.codonCoord_1=1307;refseq.codonCoord_2=1318;refseq.end_1=28708462;refseq.end_2=28708462;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3964;refseq.mrnaCoord_2=3997;refseq.name2_1=PLB1;refseq.name2_2=PLB1;refseq.name_1=NM_001170585;refseq.name_2=NM_153021;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1307V;refseq.proteinCoordStr_2=p.A1318V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=28708462;refseq.start_2=28708462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr2 28719264 . T C 366.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=1790.22;QD=38.92;RankSumP=1.00000;SB=-587.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4177T>C;refseq.codingCoordStr_2=c.4210T>C;refseq.codonCoord_1=1393;refseq.codonCoord_2=1404;refseq.end_1=28719264;refseq.end_2=28719264;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4221;refseq.mrnaCoord_2=4254;refseq.name2_1=PLB1;refseq.name2_2=PLB1;refseq.name_1=NM_001170585;refseq.name_2=NM_153021;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1393L;refseq.proteinCoordStr_2=p.L1404L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=28719264;refseq.start_2=28719264;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr2 28855195 . A G 126.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=98.93;MQ0=0;OQ=2245.12;QD=15.81;RankSumP=0.241631;SB=-509.88;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.201A>G;refseq.codingCoordStr_2=c.201A>G;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.end_1=28855195;refseq.end_2=28855195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=361;refseq.name2_1=PPP1CB;refseq.name2_2=PPP1CB;refseq.name_1=NM_002709;refseq.name_2=NM_206876;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q67Q;refseq.proteinCoordStr_2=p.Q67Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=28855195;refseq.start_2=28855195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr2 28946183 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=1099.76;QD=12.50;RankSumP=0.170893;SB=-528.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.465A>G;refseq.codonCoord=155;refseq.end=28946183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_017910;refseq.name2=TRMT61B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E155E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-235;refseq.start=28946183;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr2 28946354 . G T 104.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=8.95;MQ=98.27;MQ0=0;OQ=2507.79;QD=11.94;RankSumP=9.22813e-05;SB=-936.91;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.294C>A;refseq.codonCoord=98;refseq.end=28946354;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_017910;refseq.name2=TRMT61B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S98S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=326;refseq.start=28946354;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 0/1 chr2 29149624 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1008C>G;refseq.codonCoord=336;refseq.end=29149624;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_001029883;refseq.name2=C2orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.G336G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1008;refseq.start=29149624;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 29149627 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1005T>G;refseq.codonCoord=335;refseq.end=29149627;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_001029883;refseq.name2=C2orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.C335W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1005;refseq.start=29149627;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr2 29210071 . G C 345.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.63;MQ0=0;OQ=2983.07;QD=18.19;RankSumP=0.0970345;SB=-1231.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.414G>C;refseq.codonCoord=138;refseq.end=29210071;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_024692;refseq.name2=CLIP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L138L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=47;refseq.start=29210071;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr2 29269677 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=1.40609e-08;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4780G>A;refseq.codonCoord=1594;refseq.end=29269677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5687;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1594K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-534;refseq.start=29269677;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr2 29269870 . G C 236.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=97.79;MQ0=0;OQ=1846.86;QD=18.11;RankSumP=0.0260986;SB=-520.77;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4587C>G;refseq.codonCoord=1529;refseq.end=29269870;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5494;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1529E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=423;refseq.start=29269870;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr2 29269985 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=937.24;QD=13.78;RankSumP=0.484181;SB=-487.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4472A>G;refseq.codonCoord=1491;refseq.end=29269985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5379;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1491R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=308;refseq.start=29269985;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr2 29270076 . T C 272.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.37;MQ0=0;OQ=4484.35;QD=36.16;RankSumP=1.00000;SB=-1698.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4381A>G;refseq.codonCoord=1461;refseq.end=29270076;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5288;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1461V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=217;refseq.start=29270076;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 29301914 . T G 58 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=2.02720e-09;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3089A>C;refseq.codonCoord=1030;refseq.end=29301914;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3996;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1030P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=22;refseq.start=29301914;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 29301916 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3087A>C;refseq.codonCoord=1029;refseq.end=29301916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3994;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1029P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=20;refseq.start=29301916;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 29308703 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=17.25;MQ=98.69;MQ0=0;OQ=5943.94;QD=16.60;RankSumP=0.380274;SB=-1720.59;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2603T>A;refseq.codonCoord=868;refseq.end=29308703;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3510;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L868Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-30;refseq.start=29308703;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 29308771 . A G 246.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=98.30;MQ0=0;OQ=6870.03;QD=35.41;RankSumP=1.00000;SB=-2671.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2535T>C;refseq.codonCoord=845;refseq.end=29308771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3442;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G845G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=48;refseq.start=29308771;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 29351471 . G A 159.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.30;MQ0=0;OQ=3060.67;QD=16.11;RankSumP=0.387800;SB=-1487.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2039C>T;refseq.codonCoord=680;refseq.end=29351471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2946;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T680I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=29351471;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr2 29397167 . T C 128.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=11.20;MQ=97.23;MQ0=0;OQ=3875.25;QD=33.99;RankSumP=1.00000;SB=-593.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1500A>G;refseq.codonCoord=500;refseq.end=29397167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2407;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q500Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-47;refseq.start=29397167;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 29794033 . A T 254.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=98.80;MQ0=0;OQ=15356.90;QD=39.08;RankSumP=1.00000;SB=-7457.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.702T>A;refseq.codonCoord=234;refseq.end=29794033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P234P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=35;refseq.start=29794033;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr2 29997003 . G C 10.08 BadSOAPSNP;ESPStandard;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.93;MQ0=0;QD=3.36;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.27C>G;refseq.codonCoord=9;refseq.end=29997003;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_004304;refseq.name2=ALK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L9L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-641;refseq.start=29997003;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr2 30235009 . T C 329.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=10.08;MQ=98.53;MQ0=0;OQ=7085.38;QD=17.24;RankSumP=0.0458915;SB=-1482.65;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.162T>C;refseq.codingCoordStr_2=c.162T>C;refseq.codingCoordStr_3=c.162T>C;refseq.codingCoordStr_4=c.162T>C;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.codonCoord_4=54;refseq.end_1=30235009;refseq.end_2=30235009;refseq.end_3=30235009;refseq.end_4=30235009;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=426;refseq.mrnaCoord_2=662;refseq.mrnaCoord_3=723;refseq.mrnaCoord_4=365;refseq.name2_1=YPEL5;refseq.name2_2=YPEL5;refseq.name2_3=YPEL5;refseq.name2_4=YPEL5;refseq.name_1=NM_001127399;refseq.name_2=NM_001127400;refseq.name_3=NM_001127401;refseq.name_4=NM_016061;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S54S;refseq.proteinCoordStr_2=p.S54S;refseq.proteinCoordStr_3=p.S54S;refseq.proteinCoordStr_4=p.S54S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=30235009;refseq.start_2=30235009;refseq.start_3=30235009;refseq.start_4=30235009;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/0 chr2 31415916 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=574;Dels=0.00;HRun=1;HaplotypeScore=13.62;MQ=98.89;MQ0=0;OQ=11538.81;QD=20.10;RankSumP=0.101630;SB=-3310.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3717G>A;refseq.codonCoord=1239;refseq.end=31415916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3796;refseq.name=NM_000379;refseq.name2=XDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1239E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-58;refseq.start=31415916;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 31425290 . A G 407 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.91;MQ0=0;OQ=4354.18;QD=42.69;RankSumP=1.00000;SB=-1756.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3030T>C;refseq.codonCoord=1010;refseq.end=31425290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3109;refseq.name=NM_000379;refseq.name2=XDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1010F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-22;refseq.start=31425290;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 31443351 . G A 244.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1450.57;QD=38.17;RankSumP=1.00000;SB=-403.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2211C>T;refseq.codonCoord=737;refseq.end=31443351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2290;refseq.name=NM_000379;refseq.name2=XDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.I737I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=14;refseq.start=31443351;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr2 31444932 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2079A>C;refseq.codonCoord=693;refseq.end=31444932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2158;refseq.name=NM_000379;refseq.name2=XDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L693L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-22;refseq.start=31444932;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr2 32328613 . G A 424.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.47;MQ0=0;OQ=7116.18;QD=42.36;RankSumP=1.00000;SB=-3134.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1824C>T;refseq.codonCoord=608;refseq.end=32328613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2088;refseq.name=NM_021209;refseq.name2=NLRC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A608A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-434;refseq.start=32328613;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 32329894 . T G 204.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.58;MQ0=0;OQ=10315.84;QD=40.45;RankSumP=1.00000;SB=-4993.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.543A>C;refseq.codonCoord=181;refseq.end=32329894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_021209;refseq.name2=NLRC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R181R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=281;refseq.start=32329894;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr2 32369198 . C A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=2;HaplotypeScore=13.96;MQ=94.53;MQ0=0;OQ=64.19;QD=0.56;SB=-7.01;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.222C>A;refseq.codonCoord=74;refseq.end=32369198;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_032312;refseq.name2=YIPF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N74K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=32369198;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:74,40:45:-23.28,-13.58,-119.01:97.02 chr2 32610743 . G T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.500132;SecondBestBaseQ=30;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=32621801;refseq.end_2=32610743;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=20;refseq.name2_1=BIRC6;refseq.name2_2=MIR558;refseq.name_1=NM_016252;refseq.name_2=NR_030285;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=20;refseq.start_1=32610133;refseq.start_2=32610743;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=soap GT 0/1 chr2 32709119 . A G 260.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.03;MQ=98.72;MQ0=0;OQ=3906.47;QD=33.97;RankSumP=1.00000;SB=-1064.57;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.114A>G;refseq.codonCoord=38;refseq.end=32709119;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_017735;refseq.name2=TTC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.L38L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=26;refseq.start=32709119;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 32836984 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=21.79;MQ=98.72;MQ0=0;OQ=8415.24;QD=25.12;RankSumP=0.363091;SB=-3340.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1574G>A;refseq.codonCoord=525;refseq.end=32836984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1805;refseq.name=NM_017735;refseq.name2=TTC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R525H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-107;refseq.start=32836984;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 33341923 . G A 362.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.85;MQ0=0;OQ=5511.58;QD=19.07;RankSumP=0.411952;SB=-2032.67;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1599G>A;refseq.codingCoordStr_2=c.1599G>A;refseq.codingCoordStr_3=c.1440G>A;refseq.codingCoordStr_4=c.1440G>A;refseq.codingCoordStr_5=c.2577G>A;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.codonCoord_3=480;refseq.codonCoord_4=480;refseq.codonCoord_5=859;refseq.end_1=33341923;refseq.end_2=33341923;refseq.end_3=33341923;refseq.end_4=33341923;refseq.end_5=33341923;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1740;refseq.mrnaCoord_2=1740;refseq.mrnaCoord_3=1581;refseq.mrnaCoord_4=1581;refseq.mrnaCoord_5=2600;refseq.name2_1=LTBP1;refseq.name2_2=LTBP1;refseq.name2_3=LTBP1;refseq.name2_4=LTBP1;refseq.name2_5=LTBP1;refseq.name_1=NM_000627;refseq.name_2=NM_001166264;refseq.name_3=NM_001166265;refseq.name_4=NM_001166266;refseq.name_5=NM_206943;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T533T;refseq.proteinCoordStr_2=p.T533T;refseq.proteinCoordStr_3=p.T480T;refseq.proteinCoordStr_4=p.T480T;refseq.proteinCoordStr_5=p.T859T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.spliceDist_4=-41;refseq.spliceDist_5=-41;refseq.start_1=33341923;refseq.start_2=33341923;refseq.start_3=33341923;refseq.start_4=33341923;refseq.start_5=33341923;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 1/0 chr2 33393752 . G A 290.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=12.95;MQ=98.76;MQ0=0;OQ=4401.71;QD=18.42;RankSumP=0.119269;SB=-1245.67;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.2664G>A;refseq.codingCoordStr_2=c.2664G>A;refseq.codingCoordStr_3=c.2505G>A;refseq.codingCoordStr_4=c.2505G>A;refseq.codingCoordStr_5=c.3642G>A;refseq.codonCoord_1=888;refseq.codonCoord_2=888;refseq.codonCoord_3=835;refseq.codonCoord_4=835;refseq.codonCoord_5=1214;refseq.end_1=33393752;refseq.end_2=33393752;refseq.end_3=33393752;refseq.end_4=33393752;refseq.end_5=33393752;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2805;refseq.mrnaCoord_2=2805;refseq.mrnaCoord_3=2646;refseq.mrnaCoord_4=2646;refseq.mrnaCoord_5=3665;refseq.name2_1=LTBP1;refseq.name2_2=LTBP1;refseq.name2_3=LTBP1;refseq.name2_4=LTBP1;refseq.name2_5=LTBP1;refseq.name_1=NM_000627;refseq.name_2=NM_001166264;refseq.name_3=NM_001166265;refseq.name_4=NM_001166266;refseq.name_5=NM_206943;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P888P;refseq.proteinCoordStr_2=p.P888P;refseq.proteinCoordStr_3=p.P835P;refseq.proteinCoordStr_4=p.P835P;refseq.proteinCoordStr_5=p.P1214P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.spliceDist_4=38;refseq.spliceDist_5=38;refseq.start_1=33393752;refseq.start_2=33393752;refseq.start_3=33393752;refseq.start_4=33393752;refseq.start_5=33393752;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=Intersection GT 1/0 chr2 33439300 . T C 161.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=457;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.82;MQ0=0;OQ=17306.86;QD=37.87;RankSumP=1.00000;SB=-8012.51;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.3155T>C;refseq.codingCoordStr_2=c.3029T>C;refseq.codingCoordStr_3=c.2996T>C;refseq.codingCoordStr_4=c.2870T>C;refseq.codingCoordStr_5=c.4133T>C;refseq.codonCoord_1=1052;refseq.codonCoord_2=1010;refseq.codonCoord_3=999;refseq.codonCoord_4=957;refseq.codonCoord_5=1378;refseq.end_1=33439300;refseq.end_2=33439300;refseq.end_3=33439300;refseq.end_4=33439300;refseq.end_5=33439300;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3296;refseq.mrnaCoord_2=3170;refseq.mrnaCoord_3=3137;refseq.mrnaCoord_4=3011;refseq.mrnaCoord_5=4156;refseq.name2_1=LTBP1;refseq.name2_2=LTBP1;refseq.name2_3=LTBP1;refseq.name2_4=LTBP1;refseq.name2_5=LTBP1;refseq.name_1=NM_000627;refseq.name_2=NM_001166264;refseq.name_3=NM_001166265;refseq.name_4=NM_001166266;refseq.name_5=NM_206943;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V1052A;refseq.proteinCoordStr_2=p.V1010A;refseq.proteinCoordStr_3=p.V999A;refseq.proteinCoordStr_4=p.V957A;refseq.proteinCoordStr_5=p.V1378A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.spliceDist_5=-51;refseq.start_1=33439300;refseq.start_2=33439300;refseq.start_3=33439300;refseq.start_4=33439300;refseq.start_5=33439300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;set=Intersection GT 1/1 chr2 33666954 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.474T>C;refseq.codonCoord=158;refseq.end=33666954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_015475;refseq.name2=FAM98A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P158P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-49;refseq.start=33666954;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 36522017 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.618A>C;refseq.codonCoord=206;refseq.end=36522017;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_016441;refseq.name2=CRIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=113;refseq.start=36522017;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr2 36557648 . C T 301.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.88;MQ0=0;OQ=6546.17;QD=21.46;RankSumP=0.362580;SB=-1304.75;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1104C>T;refseq.codonCoord=368;refseq.end=36557648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_016441;refseq.name2=CRIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T368T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-71;refseq.start=36557648;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr2 36598087 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2104A>C;refseq.codonCoord=702;refseq.end=36598087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_016441;refseq.name2=CRIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T702P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-103;refseq.start=36598087;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 36629291 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3054C>T;refseq.codonCoord=1018;refseq.end=36629291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3093;refseq.name=NM_016441;refseq.name2=CRIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1018F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=120;refseq.start=36629291;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr2 36894984 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=342;Dels=0.00;HRun=1;HaplotypeScore=7.86;MQ=98.74;MQ0=0;OQ=6670.95;QD=19.51;RankSumP=0.189289;SB=-2735.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2058G>A;refseq.codonCoord=686;refseq.end=36894984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2279;refseq.name=NM_053276;refseq.name2=VIT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E686E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=155;refseq.start=36894984;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 37069378 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.5826A>C;refseq.codonCoord=1942;refseq.end=37069378;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5922;refseq.name=NM_019024;refseq.name2=HEATR5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1942S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-86;refseq.start=37069378;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr2 37118582 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3136G>C;refseq.codonCoord=1046;refseq.end=37118582;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3232;refseq.name=NM_019024;refseq.name2=HEATR5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1046P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-81;refseq.start=37118582;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr2 37159847 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=3;HaplotypeScore=1.14;MQ=98.68;MQ0=0;OQ=3954.98;QD=42.07;RankSumP=1.00000;SB=-1642.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=37159847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_019024;refseq.name2=HEATR5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F86F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-81;refseq.start=37159847;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr2 37260148 . A G 126.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.73;MQ0=0;OQ=17653.15;QD=38.71;RankSumP=1.00000;SB=-6383.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.372T>C;refseq.codonCoord=124;refseq.end=37260148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_001032377;refseq.name2=SULT6B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y124Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-44;refseq.start=37260148;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 37260184 . C G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=268;Dels=0.00;HRun=1;HaplotypeScore=16.11;MQ=98.57;MQ0=0;OQ=11942.40;QD=44.56;RankSumP=1.00000;SB=-4089.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.336G>C;refseq.codonCoord=112;refseq.end=37260184;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_001032377;refseq.name2=SULT6B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L112F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=48;refseq.start=37260184;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 37308736 . C A 149.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=98.77;MQ0=0;OQ=5799.31;QD=20.28;RankSumP=0.217178;SB=-1313.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1104G>T;refseq.codonCoord=368;refseq.end=37308736;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_005760;refseq.name2=CEBPZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V368V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-546;refseq.start=37308736;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr2 37309536 . C T 250.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2131.18;QD=42.62;RankSumP=1.00000;SB=-911.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.304G>A;refseq.codonCoord=102;refseq.end=37309536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_005760;refseq.name2=CEBPZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V102I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=148;refseq.start=37309536;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr2 37348095 . A G 275.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.52;MQ0=0;OQ=4161.02;QD=17.94;RankSumP=0.195205;SB=-587.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1866T>C;refseq.codonCoord=622;refseq.end=37348095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2421;refseq.name=NM_005813;refseq.name2=PRKD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N622N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-19;refseq.start=37348095;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr2 37360412 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=359;Dels=0.00;HRun=2;HaplotypeScore=32.37;MQ=98.08;MQ0=0;OQ=1251.45;QD=3.49;RankSumP=0.00000;SB=342.18;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1153G>A;refseq.codonCoord=385;refseq.end=37360412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_005813;refseq.name2=PRKD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E385K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-20;refseq.start=37360412;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr2 37363254 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.923A>C;refseq.codonCoord=308;refseq.end=37363254;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1478;refseq.name=NM_005813;refseq.name2=PRKD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N308T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=13;refseq.start=37363254;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 38031910 . A G 342.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.97;MQ0=0;OQ=6202.36;QD=40.28;RankSumP=1.00000;SB=-1844.55;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.48A>G;refseq.codonCoord_4=16;refseq.end_1=38054676;refseq.end_2=38054676;refseq.end_3=38054676;refseq.end_4=38031910;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=174;refseq.name2_1=FAM82A1;refseq.name2_2=FAM82A1;refseq.name2_3=FAM82A1;refseq.name2_4=FAM82A1;refseq.name_1=NM_001170791;refseq.name_2=NM_001170792;refseq.name_3=NM_001170793;refseq.name_4=NM_144713;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R16R;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGA;refseq.spliceDist_4=31;refseq.start_1=38010387;refseq.start_2=38010387;refseq.start_3=38031253;refseq.start_4=38031910;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr2 38032638 . G A 205.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=6.39;MQ=98.81;MQ0=0;OQ=17591.90;QD=42.60;RankSumP=1.00000;SB=-8668.26;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.776G>A;refseq.codonCoord_4=259;refseq.end_1=38054676;refseq.end_2=38054676;refseq.end_3=38054676;refseq.end_4=38032638;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=902;refseq.name2_1=FAM82A1;refseq.name2_2=FAM82A1;refseq.name2_3=FAM82A1;refseq.name2_4=FAM82A1;refseq.name_1=NM_001170791;refseq.name_2=NM_001170792;refseq.name_3=NM_001170793;refseq.name_4=NM_144713;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G259D;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGT;refseq.spliceDist_4=-211;refseq.start_1=38010387;refseq.start_2=38010387;refseq.start_3=38031253;refseq.start_4=38032638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Asp;refseq.variantCodon_4=GAT;set=Intersection GT 1/1 chr2 38151654 . A G 345.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=98.62;MQ0=0;OQ=5084.98;QD=18.16;RankSumP=0.415951;SB=-1873.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1347T>C;refseq.codonCoord=449;refseq.end=38151654;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1749;refseq.name=NM_000104;refseq.name2=CYP1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D449D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=304;refseq.start=38151654;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr2 38151707 . C G 224.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.85;MQ0=0;OQ=4808.22;QD=23.23;RankSumP=0.474772;SB=-1879.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1294G>C;refseq.codonCoord=432;refseq.end=38151707;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1696;refseq.name=NM_000104;refseq.name2=CYP1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V432L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=251;refseq.start=38151707;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 38155681 . C A 210.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.15;MQ0=0;OQ=777.54;QD=15.87;RankSumP=0.678992;SB=-386.17;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.355G>T;refseq.codonCoord=119;refseq.end=38155681;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_000104;refseq.name2=CYP1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=356;refseq.start=38155681;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr2 38155894 . G C 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=97.48;MQ0=0;OQ=281.17;QD=12.22;RankSumP=0.112707;SB=-49.91;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.142C>G;refseq.codonCoord=48;refseq.end=38155894;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_000104;refseq.name2=CYP1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R48G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=143;refseq.start=38155894;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr2 38379002 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.1420A>C;refseq.codingCoordStr_3=c.1420A>C;refseq.codonCoord_2=474;refseq.codonCoord_3=474;refseq.end_1=38379002;refseq.end_2=38379002;refseq.end_3=38379002;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1205;refseq.mrnaCoord_2=1450;refseq.mrnaCoord_3=1450;refseq.name2_1=ATL2;refseq.name2_2=ATL2;refseq.name2_3=ATL2;refseq.name_1=NR_024191;refseq.name_2=NM_001135673;refseq.name_3=NM_022374;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T474P;refseq.proteinCoordStr_3=p.T474P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-213;refseq.spliceDist_2=-213;refseq.spliceDist_3=-213;refseq.start_1=38379002;refseq.start_2=38379002;refseq.start_3=38379002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr2 38390130 . T G 141.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.84;MQ0=0;OQ=1995.50;QD=16.91;RankSumP=0.488030;SB=-544.77;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.966A>C;refseq.codingCoordStr_3=c.966A>C;refseq.codonCoord_2=322;refseq.codonCoord_3=322;refseq.end_1=38390130;refseq.end_2=38390130;refseq.end_3=38390130;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=751;refseq.mrnaCoord_2=996;refseq.mrnaCoord_3=996;refseq.name2_1=ATL2;refseq.name2_2=ATL2;refseq.name2_3=ATL2;refseq.name_1=NR_024191;refseq.name_2=NM_001135673;refseq.name_3=NM_022374;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R322R;refseq.proteinCoordStr_3=p.R322R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=38390130;refseq.start_2=38390130;refseq.start_3=38390130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/0 chr2 38457855 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=947.23;QD=11.99;RankSumP=0.462778;SB=-211.56;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.52T>C;refseq.codingCoordStr_3=c.52T>C;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.end_1=38457855;refseq.end_2=38457855;refseq.end_3=38457855;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=82;refseq.mrnaCoord_2=82;refseq.mrnaCoord_3=82;refseq.name2_1=ATL2;refseq.name2_2=ATL2;refseq.name2_3=ATL2;refseq.name_1=NR_024191;refseq.name_2=NM_001135673;refseq.name_3=NM_022374;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.W18R;refseq.proteinCoordStr_3=p.W18R;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=38457855;refseq.start_2=38457855;refseq.start_3=38457855;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr2 38756571 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.204G>C;refseq.codonCoord=68;refseq.end=38756571;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_138801;refseq.name2=GALM;refseq.positionType=CDS;refseq.proteinCoordStr=p.K68N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=14;refseq.start=38756571;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr2 38879059 . G A 320.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.57;MQ0=0;OQ=6511.53;QD=22.00;RankSumP=0.135364;SB=-2732.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4047C>T;refseq.codonCoord=1349;refseq.end=38879059;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4146;refseq.name=NM_198963;refseq.name2=DHX57;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1349C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=30;refseq.start=38879059;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr2 38903645 . A C 142.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.18;MQ0=0;OQ=2306.96;QD=14.24;RankSumP=0.419747;SB=-435.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3285T>G;refseq.codonCoord=1095;refseq.end=38903645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3384;refseq.name=NM_198963;refseq.name2=DHX57;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1095S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=38903645;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr2 38935848 . T C 198.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=9.71;MQ=98.86;MQ0=0;OQ=2805.78;QD=13.75;RankSumP=0.173350;SB=-1225.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1760A>G;refseq.codonCoord=587;refseq.end=38935848;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1859;refseq.name=NM_198963;refseq.name2=DHX57;refseq.positionType=CDS;refseq.proteinCoordStr=p.N587S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=51;refseq.start=38935848;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr2 39360921 . T A 297.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=98.97;MQ0=0;OQ=6998.49;QD=39.99;RankSumP=1.00000;SB=-2265.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1710A>T;refseq.codonCoord=570;refseq.end=39360921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1801;refseq.name=NM_003618;refseq.name2=MAP4K3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T570T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=39360921;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr2 39436950 . A G 364.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7635.05;QD=42.89;RankSumP=1.00000;SB=-3540.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.189T>C;refseq.codonCoord=63;refseq.end=39436950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_003618;refseq.name2=MAP4K3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I63I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=35;refseq.start=39436950;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 42363522 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=3;HaplotypeScore=16.31;MQ=98.93;MQ0=0;OQ=18294.19;QD=41.77;RankSumP=1.00000;SB=-8644.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.673A>G;refseq.codingCoordStr_2=c.847A>G;refseq.codonCoord_1=225;refseq.codonCoord_2=283;refseq.end_1=42363522;refseq.end_2=42363522;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=935;refseq.mrnaCoord_2=1109;refseq.name2_1=EML4;refseq.name2_2=EML4;refseq.name_1=NM_001145076;refseq.name_2=NM_019063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K225E;refseq.proteinCoordStr_2=p.K283E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=42363522;refseq.start_2=42363522;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr2 42368892 . A G 264.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=98.78;MQ0=0;OQ=13751.97;QD=42.44;RankSumP=1.00000;SB=-5316.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.970A>G;refseq.codingCoordStr_2=c.1144A>G;refseq.codonCoord_1=324;refseq.codonCoord_2=382;refseq.end_1=42368892;refseq.end_2=42368892;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=1406;refseq.name2_1=EML4;refseq.name2_2=EML4;refseq.name_1=NM_001145076;refseq.name_2=NM_019063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I324V;refseq.proteinCoordStr_2=p.I382V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=42368892;refseq.start_2=42368892;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr2 42843605 . G C 213.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=4.76;MQ=98.48;MQ0=0;OQ=2294.23;QD=16.75;RankSumP=0.283823;SB=-863.37;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1219C>G;refseq.codonCoord=407;refseq.end=42843605;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1301;refseq.name=NM_148962;refseq.name2=OXER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L407V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-463;refseq.start=42843605;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr2 42843840 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=17.08;MQ=96.42;MQ0=0;OQ=426.24;QD=8.70;RankSumP=0.526550;SB=-64.95;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.984A>C;refseq.codonCoord=328;refseq.end=42843840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_148962;refseq.name2=OXER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R328R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-698;refseq.start=42843840;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr2 42843848 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=51;Dels=0.00;HRun=2;HaplotypeScore=23.45;MQ=96.13;MQ0=0;OQ=51.54;QD=1.01;RankSumP=0.0437304;SB=44.17;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.976G>C;refseq.codonCoord=326;refseq.end=42843848;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_148962;refseq.name2=OXER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A326P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-706;refseq.start=42843848;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr2 42844026 . C T 221.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.31;MQ0=0;OQ=926.17;QD=18.52;RankSumP=0.260694;SB=-297.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.798G>A;refseq.codonCoord=266;refseq.end=42844026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_148962;refseq.name2=OXER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A266A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=880;refseq.start=42844026;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr2 42869208 . T A 179.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=480;Dels=0.00;HRun=0;HaplotypeScore=16.75;MQ=98.74;MQ0=0;OQ=7264.74;QD=15.13;RankSumP=0.111587;SB=-2668.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.124A>T;refseq.codonCoord=42;refseq.end=42869208;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_012205;refseq.name2=HAAO;refseq.positionType=CDS;refseq.proteinCoordStr=p.T42S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-36;refseq.start=42869208;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr2 42869223 . T C 208.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=10.48;MQ=98.71;MQ0=0;OQ=6708.98;QD=14.40;RankSumP=0.236053;SB=-2427.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.109A>G;refseq.codonCoord=37;refseq.end=42869223;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_012205;refseq.name2=HAAO;refseq.positionType=CDS;refseq.proteinCoordStr=p.I37V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=29;refseq.start=42869223;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr2 43305687 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=97.56;MQ0=0;OQ=351.46;QD=8.79;RankSumP=0.651070;SB=-201.59;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.760T>C;refseq.codonCoord=254;refseq.end=43305687;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1051;refseq.name=NM_006887;refseq.name2=ZFP36L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L254L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=709;refseq.start=43305687;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr2 43790929 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2170T>G;refseq.codonCoord=724;refseq.end=43790929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2253;refseq.name=NM_172069;refseq.name2=PLEKHH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W724G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-45;refseq.start=43790929;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 43857514 . T C 299.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=13.14;MQ=98.78;MQ0=0;OQ=5698.86;QD=21.34;RankSumP=6.90497e-08;SB=-2115.76;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.98T>C;refseq.codingCoordStr_2=c.98T>C;refseq.codingCoordStr_3=c.98T>C;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=43857514;refseq.end_2=43857514;refseq.end_3=43857514;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=194;refseq.mrnaCoord_2=194;refseq.mrnaCoord_3=194;refseq.name2_1=DYNC2LI1;refseq.name2_2=DYNC2LI1;refseq.name2_3=DYNC2LI1;refseq.name_1=NM_001012665;refseq.name_2=NM_015522;refseq.name_3=NM_016008;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F33S;refseq.proteinCoordStr_2=p.F33S;refseq.proteinCoordStr_3=p.F33S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=43857514;refseq.start_2=43857514;refseq.start_3=43857514;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=filterInsoap-gatk GT 1/0 chr2 43893905 . G C 144.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1230.59;QD=13.52;RankSumP=0.0633089;SB=-636.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1810C>G;refseq.codonCoord=604;refseq.end=43893905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1950;refseq.name=NM_022436;refseq.name2=ABCG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q604E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=48;refseq.start=43893905;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 43925247 . A G 119.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.50;MQ0=0;OQ=1315.75;QD=13.56;RankSumP=0.437856;SB=-136.71;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.161A>G;refseq.codonCoord=54;refseq.end=43925247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_022437;refseq.name2=ABCG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y54C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=43925247;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr2 43952937 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=9.46;MQ=98.89;MQ0=0;OQ=1821.67;QD=14.46;RankSumP=0.373807;SB=-241.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1199C>A;refseq.codonCoord=400;refseq.end=43952937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_022437;refseq.name2=ABCG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T400K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-13;refseq.start=43952937;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 43955913 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1613T>G;refseq.codonCoord=538;refseq.end=43955913;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1703;refseq.name=NM_022437;refseq.name2=ABCG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V538G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=125;refseq.start=43955913;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 43958429 . T C 191.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=3.90;MQ=98.76;MQ0=0;OQ=12734.83;QD=39.67;RankSumP=1.00000;SB=-6291.22;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1895T>C;refseq.codonCoord=632;refseq.end=43958429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1985;refseq.name=NM_022437;refseq.name2=ABCG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V632A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=11;refseq.start=43958429;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 44054880 . T C 114.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=98.79;MQ0=0;OQ=5965.94;QD=25.60;RankSumP=0.0797930;SB=-2062.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1068A>G;refseq.codonCoord=356;refseq.end=44054880;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_133259;refseq.name2=LRPPRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q356Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=59;refseq.start=44054880;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr2 44062981 . C T 173.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=1.41;MQ=98.70;MQ0=0;OQ=2532.40;QD=20.93;RankSumP=0.433451;SB=-1124.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.246G>A;refseq.codonCoord=82;refseq.end=44062981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_133259;refseq.name2=LRPPRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q82Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=97;refseq.start=44062981;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 44356292 . A C 321.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.92;MQ0=0;OQ=4798.38;QD=38.70;RankSumP=1.00000;SB=-1696.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.114A>C;refseq.codonCoord=38;refseq.end=44356292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_000341;refseq.name2=SLC3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G38G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=192;refseq.start=44356292;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 44401078 . G A 313.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=98.90;MQ0=0;OQ=8356.39;QD=41.57;RankSumP=1.00000;SB=-4109.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.codingCoordStr_1=c.1854G>A;refseq.codingCoordStr_2=c.*921C>T;refseq.codingCoordStr_3=c.*921C>T;refseq.codingCoordStr_4=c.*921C>T;refseq.codingCoordStr_5=c.*921C>T;refseq.codingCoordStr_6=c.*921C>T;refseq.codingCoordStr_7=c.*921C>T;refseq.codingCoordStr_8=c.*921C>T;refseq.codonCoord_1=618;refseq.end_1=44401078;refseq.end_2=44401078;refseq.end_3=44401078;refseq.end_4=44401078;refseq.end_5=44401078;refseq.end_6=44401078;refseq.end_7=44401078;refseq.end_8=44401078;refseq.frame_1=2;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.mrnaCoord_1=1932;refseq.mrnaCoord_2=2953;refseq.mrnaCoord_3=2941;refseq.mrnaCoord_4=3479;refseq.mrnaCoord_5=3610;refseq.mrnaCoord_6=3068;refseq.mrnaCoord_7=3225;refseq.mrnaCoord_8=4064;refseq.name2_1=SLC3A1;refseq.name2_2=PREPL;refseq.name2_3=PREPL;refseq.name2_4=PREPL;refseq.name2_5=PREPL;refseq.name2_6=PREPL;refseq.name2_7=PREPL;refseq.name2_8=PREPL;refseq.name_1=NM_000341;refseq.name_2=NM_001042385;refseq.name_3=NM_001042386;refseq.name_4=NM_001171603;refseq.name_5=NM_001171606;refseq.name_6=NM_001171613;refseq.name_7=NM_001171617;refseq.name_8=NM_006036;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.positionType_5=utr3;refseq.positionType_6=utr3;refseq.positionType_7=utr3;refseq.positionType_8=utr3;refseq.proteinCoordStr_1=p.M618I;refseq.referenceAA_1=Met;refseq.referenceCodon_1=ATG;refseq.spliceDist_1=237;refseq.spliceDist_2=1011;refseq.spliceDist_3=1011;refseq.spliceDist_4=1011;refseq.spliceDist_5=1011;refseq.spliceDist_6=1011;refseq.spliceDist_7=1011;refseq.spliceDist_8=1011;refseq.start_1=44401078;refseq.start_2=44401078;refseq.start_3=44401078;refseq.start_4=44401078;refseq.start_5=44401078;refseq.start_6=44401078;refseq.start_7=44401078;refseq.start_8=44401078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ile;refseq.variantCodon_1=ATA;set=Intersection GT 1/1 chr2 44442790 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00100673;SecondBestBaseQ=9;refseq.chr=chr2;refseq.codingCoordStr=c.138+2;refseq.end=44442790;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_024766;refseq.name2=C2orf34;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=44442790;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr2 45025346 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=98.22;MQ0=0;OQ=1697.27;QD=26.94;RankSumP=1.00000;SB=-721.29;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.942A>G;refseq.codonCoord=314;refseq.end=45025346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_005413;refseq.name2=SIX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A314A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=136;refseq.start=45025346;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr2 46065237 . G T 33 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=9.93897e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.737G>T;refseq.codonCoord=246;refseq.end=46065237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_005400;refseq.name2=PRKCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.G246V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=44;refseq.start=46065237;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr2 46231713 . C T 187.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2116.21;QD=14.59;RankSumP=1.18466e-07;SB=-1016.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1761C>T;refseq.codonCoord=587;refseq.end=46231713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1958;refseq.name=NM_005400;refseq.name2=PRKCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S587S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=30;refseq.start=46231713;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=filterInsoap-gatk GT 0/1 chr2 46461027 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1712T>C;refseq.codonCoord=571;refseq.end=46461027;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2222;refseq.name=NM_001430;refseq.name2=EPAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F571S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=158;refseq.start=46461027;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr2 46462704 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2259C>A;refseq.codonCoord=753;refseq.end=46462704;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2769;refseq.name=NM_001430;refseq.name2=EPAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D753E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-29;refseq.start=46462704;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr2 46692981 . T C 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.22;MQ0=0;OQ=261.22;QD=12.44;RankSumP=0.740304;SB=-133.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.327A>G;refseq.codingCoordStr_2=c.327A>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=46692981;refseq.end_2=46692981;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=PIGF;refseq.name2_2=PIGF;refseq.name_1=NM_002643;refseq.name_2=NM_173074;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A109A;refseq.proteinCoordStr_2=p.A109A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=46692981;refseq.start_2=46692981;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr2 46695707 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.361688;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.101T>C;refseq.codingCoordStr_2=c.101T>C;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=46695707;refseq.end_2=46695707;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=265;refseq.mrnaCoord_2=265;refseq.name2_1=PIGF;refseq.name2_2=PIGF;refseq.name_1=NM_002643;refseq.name_2=NM_173074;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F34S;refseq.proteinCoordStr_2=p.F34S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.start_1=46695707;refseq.start_2=46695707;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 0/1 chr2 46839803 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.462754;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.630C>T;refseq.codingCoordStr_2=c.630C>T;refseq.codonCoord_1=210;refseq.codonCoord_2=210;refseq.end_1=46839803;refseq.end_2=46839803;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=882;refseq.name2_1=SOCS5;refseq.name2_2=SOCS5;refseq.name_1=NM_014011;refseq.name_2=NM_144949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L210L;refseq.proteinCoordStr_2=p.L210L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=642;refseq.spliceDist_2=642;refseq.start_1=46839803;refseq.start_2=46839803;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=soap GT 0/1 chr2 46839920 . A G 132.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=76.83;MQ0=24;OQ=2903.36;QD=14.03;RankSumP=0.498676;SB=-1348.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.747A>G;refseq.codingCoordStr_2=c.747A>G;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.end_1=46839920;refseq.end_2=46839920;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=911;refseq.mrnaCoord_2=999;refseq.name2_1=SOCS5;refseq.name2_2=SOCS5;refseq.name_1=NM_014011;refseq.name_2=NM_144949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T249T;refseq.proteinCoordStr_2=p.T249T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=759;refseq.spliceDist_2=759;refseq.start_1=46839920;refseq.start_2=46839920;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr2 46840220 . C G 116.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=15.23;MQ=75.43;MQ0=0;OQ=10658.79;QD=23.12;RankSumP=0.0946350;SB=-3376.37;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1047C>G;refseq.codingCoordStr_2=c.1047C>G;refseq.codonCoord_1=349;refseq.codonCoord_2=349;refseq.end_1=46840220;refseq.end_2=46840220;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1299;refseq.name2_1=SOCS5;refseq.name2_2=SOCS5;refseq.name_1=NM_014011;refseq.name_2=NM_144949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T349T;refseq.proteinCoordStr_2=p.T349T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1059;refseq.spliceDist_2=1059;refseq.start_1=46840220;refseq.start_2=46840220;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr2 46986131 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=423;Dels=0.00;HRun=1;HaplotypeScore=14.93;MQ=90.66;MQ0=22;OQ=7960.74;QD=18.82;RankSumP=0.242002;SB=-3084.84;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_1=c.416C>T;refseq.codingCoordStr_2=c.416C>T;refseq.codingCoordStr_3=c.416C>T;refseq.codingCoordStr_4=c.260C>T;refseq.codingCoordStr_5=c.260C>T;refseq.codingCoordStr_6=c.359C>T;refseq.codingCoordStr_7=c.416C>T;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.codonCoord_3=139;refseq.codonCoord_4=87;refseq.codonCoord_5=87;refseq.codonCoord_6=120;refseq.codonCoord_7=139;refseq.end_1=46986131;refseq.end_2=46986131;refseq.end_3=46986131;refseq.end_4=46986131;refseq.end_5=46986131;refseq.end_6=46986131;refseq.end_7=46986131;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=645;refseq.mrnaCoord_2=553;refseq.mrnaCoord_3=694;refseq.mrnaCoord_4=396;refseq.mrnaCoord_5=398;refseq.mrnaCoord_6=539;refseq.mrnaCoord_7=551;refseq.name2_1=MCFD2;refseq.name2_2=MCFD2;refseq.name2_3=MCFD2;refseq.name2_4=MCFD2;refseq.name2_5=MCFD2;refseq.name2_6=MCFD2;refseq.name2_7=MCFD2;refseq.name_1=NM_001171506;refseq.name_2=NM_001171507;refseq.name_3=NM_001171508;refseq.name_4=NM_001171509;refseq.name_5=NM_001171510;refseq.name_6=NM_001171511;refseq.name_7=NM_139279;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A139V;refseq.proteinCoordStr_2=p.A139V;refseq.proteinCoordStr_3=p.A139V;refseq.proteinCoordStr_4=p.A87V;refseq.proteinCoordStr_5=p.A87V;refseq.proteinCoordStr_6=p.A120V;refseq.proteinCoordStr_7=p.A139V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.spliceDist_4=107;refseq.spliceDist_5=107;refseq.spliceDist_6=107;refseq.spliceDist_7=107;refseq.start_1=46986131;refseq.start_2=46986131;refseq.start_3=46986131;refseq.start_4=46986131;refseq.start_5=46986131;refseq.start_6=46986131;refseq.start_7=46986131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=Intersection GT 1/0 chr2 47074126 . G A 268.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=4.06;MQ=98.65;MQ0=0;OQ=4695.04;QD=20.32;RankSumP=0.220721;SB=-1933.25;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.798G>A;refseq.codonCoord=266;refseq.end=47074126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_020458;refseq.name2=TTC7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E266E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=34;refseq.start=47074126;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 47454610 . T C 322.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=98.54;MQ0=0;OQ=4441.78;QD=21.67;RankSumP=0.207731;SB=-1892.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.344T>C;refseq.codonCoord=115;refseq.end=47454610;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_002354;refseq.name2=EPCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.M115T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-82;refseq.start=47454610;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 47863992 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=95.14;MQ0=0;OQ=875.26;QD=25.01;RankSumP=0.603478;SB=-48.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.116G>A;refseq.codonCoord=39;refseq.end=47863992;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_000179;refseq.name2=MSH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G39E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-145;refseq.start=47863992;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr2 47884196 . T A 358.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=98.80;MQ0=0;OQ=6028.90;QD=20.51;RankSumP=0.00255562;SB=-2379.43;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3306T>A;refseq.codonCoord=1102;refseq.end=47884196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3458;refseq.name=NM_000179;refseq.name2=MSH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1102T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-133;refseq.start=47884196;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr2 48455756 . C T 208.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=98.87;MQ0=0;OQ=5970.39;QD=22.53;RankSumP=0.357276;SB=-2339.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.966C>T;refseq.codonCoord=322;refseq.end=48455756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_002158;refseq.name2=FOXN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S322S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=194;refseq.start=48455756;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr2 48661300 . A C 282.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=12.41;MQ=98.80;MQ0=0;OQ=6512.00;QD=16.16;RankSumP=0.407980;SB=-2479.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.24A>C;refseq.codingCoordStr_2=c.24A>C;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=48661300;refseq.end_2=48661300;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=34;refseq.mrnaCoord_2=138;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K8N;refseq.proteinCoordStr_2=p.K8N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=34;refseq.spliceDist_2=71;refseq.start_1=48661300;refseq.start_2=48661300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr2 48661480 . T C 297.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=15.50;MQ=98.82;MQ0=0;OQ=7746.55;QD=18.49;RankSumP=0.346152;SB=-2408.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.204T>C;refseq.codingCoordStr_2=c.204T>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=48661480;refseq.end_2=48661480;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=214;refseq.mrnaCoord_2=318;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D68D;refseq.proteinCoordStr_2=p.D68D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=214;refseq.spliceDist_2=251;refseq.start_1=48661480;refseq.start_2=48661480;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr2 48661656 . G C 171.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.86;MQ0=0;OQ=6601.95;QD=25.20;RankSumP=0.217832;SB=-2703.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.380G>C;refseq.codingCoordStr_2=c.380G>C;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=48661656;refseq.end_2=48661656;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=494;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R127T;refseq.proteinCoordStr_2=p.R127T;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=390;refseq.spliceDist_2=427;refseq.start_1=48661656;refseq.start_2=48661656;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr2 48662098 . C T 343.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.91;MQ0=0;OQ=8974.44;QD=43.15;RankSumP=1.00000;SB=-3818.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.822C>T;refseq.codingCoordStr_2=c.822C>T;refseq.codonCoord_1=274;refseq.codonCoord_2=274;refseq.end_1=48662098;refseq.end_2=48662098;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=936;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S274S;refseq.proteinCoordStr_2=p.S274S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=832;refseq.spliceDist_2=869;refseq.start_1=48662098;refseq.start_2=48662098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr2 48662386 . T A 304.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=99.00;MQ0=0;OQ=3981.67;QD=18.69;RankSumP=0.283929;SB=-1491.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1110T>A;refseq.codingCoordStr_2=c.1110T>A;refseq.codonCoord_1=370;refseq.codonCoord_2=370;refseq.end_1=48662386;refseq.end_2=48662386;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1224;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P370P;refseq.proteinCoordStr_2=p.P370P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-821;refseq.spliceDist_2=-821;refseq.start_1=48662386;refseq.start_2=48662386;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr2 48662402 . C T 234.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=99.00;MQ0=0;OQ=3115.06;QD=15.42;RankSumP=0.188842;SB=-1335.12;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1126C>T;refseq.codingCoordStr_2=c.1126C>T;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.end_1=48662402;refseq.end_2=48662402;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1136;refseq.mrnaCoord_2=1240;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L376L;refseq.proteinCoordStr_2=p.L376L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-805;refseq.spliceDist_2=-805;refseq.start_1=48662402;refseq.start_2=48662402;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr2 48663097 . G T 273.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.64;MQ0=0;OQ=11475.79;QD=38.38;RankSumP=1.00000;SB=-5050.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1821G>T;refseq.codingCoordStr_2=c.1821G>T;refseq.codonCoord_1=607;refseq.codonCoord_2=607;refseq.end_1=48663097;refseq.end_2=48663097;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1831;refseq.mrnaCoord_2=1935;refseq.name2_1=STON1;refseq.name2_2=STON1-GTF2A1L;refseq.name_1=NM_006873;refseq.name_2=NM_172311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q607H;refseq.proteinCoordStr_2=p.Q607H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.start_1=48663097;refseq.start_2=48663097;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr2 48675885 . G A 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=4;HaplotypeScore=2.14;MQ=98.83;MQ0=0;OQ=6167.79;QD=42.25;RankSumP=1.00000;SB=-2331.43;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.2148G>A;refseq.codonCoord_2=716;refseq.end_1=48701483;refseq.end_2=48675885;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2158;refseq.name2_1=STON1-GTF2A1L;refseq.name2_2=STON1;refseq.name_1=NM_172311;refseq.name_2=NM_006873;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K716K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=15;refseq.start_1=48672509;refseq.start_2=48675885;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr2 48727482 . A G 307.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=98.93;MQ0=0;OQ=5403.83;QD=22.06;RankSumP=0.325594;SB=-2017.23;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.775A>G;refseq.codingCoordStr_2=c.775A>G;refseq.codingCoordStr_3=c.2887A>G;refseq.codonCoord_1=259;refseq.codonCoord_2=259;refseq.codonCoord_3=963;refseq.end_1=48727482;refseq.end_2=48727482;refseq.end_3=48727482;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=841;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=3001;refseq.name2_1=GTF2A1L;refseq.name2_2=GTF2A1L;refseq.name2_3=STON1-GTF2A1L;refseq.name_1=NM_006872;refseq.name_2=NM_172196;refseq.name_3=NM_172311;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N259D;refseq.proteinCoordStr_2=p.N259D;refseq.proteinCoordStr_3=p.N963D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-204;refseq.spliceDist_2=-204;refseq.spliceDist_3=-204;refseq.start_1=48727482;refseq.start_2=48727482;refseq.start_3=48727482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr2 48752302 . T A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=591;Dels=0.00;HRun=1;HaplotypeScore=21.12;MQ=98.77;MQ0=0;OQ=23429.42;QD=39.64;RankSumP=1.00000;SB=-8659.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1308T>A;refseq.codingCoordStr_2=c.1308T>A;refseq.codingCoordStr_3=c.3420T>A;refseq.codonCoord_1=436;refseq.codonCoord_2=436;refseq.codonCoord_3=1140;refseq.end_1=48752302;refseq.end_2=48752302;refseq.end_3=48752302;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1374;refseq.mrnaCoord_2=1374;refseq.mrnaCoord_3=3534;refseq.name2_1=GTF2A1L;refseq.name2_2=GTF2A1L;refseq.name2_3=STON1-GTF2A1L;refseq.name_1=NM_006872;refseq.name_2=NM_172196;refseq.name_3=NM_172311;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V436V;refseq.proteinCoordStr_2=p.V436V;refseq.proteinCoordStr_3=p.V1140V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=48752302;refseq.start_2=48752302;refseq.start_3=48752302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr2 48769375 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=27.49;MQ=98.74;MQ0=0;OQ=6391.28;QD=20.35;RankSumP=0.381520;SB=-2507.17;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.1065T>C;refseq.codonCoord_2=355;refseq.end_1=48813525;refseq.end_2=48769375;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1135;refseq.name2_1=GTF2A1L;refseq.name2_2=LHCGR;refseq.name_1=NM_172196;refseq.name_2=NM_000233;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D355D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=118;refseq.start_1=48752334;refseq.start_2=48769375;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr2 48774879 . T C 206.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1221.49;QD=18.79;RankSumP=0.246317;SB=-426.33;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.935A>G;refseq.codonCoord_2=312;refseq.end_1=48813525;refseq.end_2=48774879;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1005;refseq.name2_1=GTF2A1L;refseq.name2_2=LHCGR;refseq.name_1=NM_172196;refseq.name_2=NM_000233;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N312S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=-13;refseq.start_1=48752334;refseq.start_2=48774879;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr2 50134026 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4135A>C;refseq.codingCoordStr_2=c.3925A>C;refseq.codingCoordStr_3=c.820A>C;refseq.codonCoord_1=1379;refseq.codonCoord_2=1309;refseq.codonCoord_3=274;refseq.end_1=50134026;refseq.end_2=50134026;refseq.end_3=50134026;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5612;refseq.mrnaCoord_2=5402;refseq.mrnaCoord_3=1627;refseq.name2_1=NRXN1;refseq.name2_2=NRXN1;refseq.name2_3=NRXN1;refseq.name_1=NM_001135659;refseq.name_2=NM_004801;refseq.name_3=NM_138735;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1379P;refseq.proteinCoordStr_2=p.T1309P;refseq.proteinCoordStr_3=p.T274P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.spliceDist_3=-114;refseq.start_1=50134026;refseq.start_2=50134026;refseq.start_3=50134026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr2 53889012 . G C 228.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.78;MQ0=0;OQ=5618.25;QD=23.81;RankSumP=0.248466;SB=-2044.84;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_3=c.952G>C;refseq.codingCoordStr_4=c.952G>C;refseq.codonCoord_3=318;refseq.codonCoord_4=318;refseq.end_1=53940458;refseq.end_2=53889844;refseq.end_3=53889012;refseq.end_4=53889012;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1232;refseq.mrnaCoord_4=1232;refseq.name2_1=LOC100302652;refseq.name2_2=ERLEC1;refseq.name2_3=ERLEC1;refseq.name2_4=ERLEC1;refseq.name_1=NM_001164165;refseq.name_2=NM_001127398;refseq.name_3=NM_001127397;refseq.name_4=NM_015701;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V318L;refseq.proteinCoordStr_4=p.V318L;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.start_1=53846237;refseq.start_2=53882494;refseq.start_3=53889012;refseq.start_4=53889012;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 0/1 chr2 53974324 . G A 171.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.89;MQ0=0;OQ=2329.64;QD=13.39;RankSumP=2.22046e-09;SB=-1130.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4029C>T;refseq.codonCoord=1343;refseq.end=53974324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4085;refseq.name=NM_014614;refseq.name2=PSME4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1343C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=53974324;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=filterInsoap-gatk GT 1/0 chr2 53980545 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=1;HaplotypeScore=15.16;MQ=98.74;MQ0=0;OQ=12355.55;QD=22.06;RankSumP=0.314589;SB=-5319.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3399G>A;refseq.codonCoord=1133;refseq.end=53980545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3455;refseq.name=NM_014614;refseq.name2=PSME4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1133Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-24;refseq.start=53980545;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 54003741 . A G 164.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=98.39;MQ0=0;OQ=1691.46;QD=13.53;RankSumP=0.460183;SB=-658.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1927T>C;refseq.codonCoord=643;refseq.end=54003741;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1983;refseq.name=NM_014614;refseq.name2=PSME4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L643L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=19;refseq.start=54003741;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr2 54336213 . C G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.526252;SecondBestBaseQ=23;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.580G>C;refseq.codonCoord_2=194;refseq.end_1=54385318;refseq.end_2=54336213;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=701;refseq.name2_1=ACYP2;refseq.name2_2=TSPYL6;refseq.name_1=NM_138448;refseq.name_2=NM_001003937;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G194R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=701;refseq.start_1=54219400;refseq.start_2=54336213;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=soap GT 1/0 chr2 54336220 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.500616;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.573C>T;refseq.codonCoord_2=191;refseq.end_1=54385318;refseq.end_2=54336220;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=694;refseq.name2_1=ACYP2;refseq.name2_2=TSPYL6;refseq.name_1=NM_138448;refseq.name_2=NM_001003937;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P191P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=694;refseq.start_1=54219400;refseq.start_2=54336220;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=soap GT 1/0 chr2 54336493 . C T 226.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=98.87;MQ0=0;OQ=4964.95;QD=37.90;RankSumP=1.00000;SB=-1715.24;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.300G>A;refseq.codonCoord_2=100;refseq.end_1=54385318;refseq.end_2=54336493;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=421;refseq.name2_1=ACYP2;refseq.name2_2=TSPYL6;refseq.name_1=NM_138448;refseq.name_2=NM_001003937;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A100A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=421;refseq.start_1=54219400;refseq.start_2=54336493;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr2 54679886 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.300+2;refseq.codingCoordStr_2=c.261+2;refseq.end_1=54679886;refseq.end_2=54679886;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SPTBN1;refseq.name2_2=SPTBN1;refseq.name_1=NM_003128;refseq.name_2=NM_178313;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=54679886;refseq.start_2=54679886;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr2 54712168 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=16.71;MQ=98.64;MQ0=0;OQ=2843.83;QD=13.29;RankSumP=0.348191;SB=-681.51;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3480C>T;refseq.codingCoordStr_2=c.3441C>T;refseq.codonCoord_1=1160;refseq.codonCoord_2=1147;refseq.end_1=54712168;refseq.end_2=54712168;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3729;refseq.mrnaCoord_2=3826;refseq.name2_1=SPTBN1;refseq.name2_2=SPTBN1;refseq.name_1=NM_003128;refseq.name_2=NM_178313;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1160N;refseq.proteinCoordStr_2=p.N1147N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.start_1=54712168;refseq.start_2=54712168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr2 54734395 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.5723T>G;refseq.codingCoordStr_2=c.5684T>G;refseq.codonCoord_1=1908;refseq.codonCoord_2=1895;refseq.end_1=54734395;refseq.end_2=54734395;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5972;refseq.mrnaCoord_2=6069;refseq.name2_1=SPTBN1;refseq.name2_2=SPTBN1;refseq.name_1=NM_003128;refseq.name_2=NM_178313;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1908G;refseq.proteinCoordStr_2=p.V1895G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-100;refseq.spliceDist_2=-100;refseq.start_1=54734395;refseq.start_2=54734395;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr2 55106564 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_3=c.2175A>C;refseq.codingCoordStr_4=c.1557A>C;refseq.codonCoord_3=725;refseq.codonCoord_4=519;refseq.end_1=55108793;refseq.end_2=55130374;refseq.end_3=55106564;refseq.end_4=55106564;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=2473;refseq.mrnaCoord_4=1731;refseq.name2_1=RTN4;refseq.name2_2=RTN4;refseq.name2_3=RTN4;refseq.name2_4=RTN4;refseq.name_1=NM_207520;refseq.name_2=NM_153828;refseq.name_3=NM_020532;refseq.name_4=NM_207521;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E725D;refseq.proteinCoordStr_4=p.E519D;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_3=-839;refseq.spliceDist_4=-839;refseq.start_1=55068349;refseq.start_2=55068349;refseq.start_3=55106564;refseq.start_4=55106564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 1/0 chr2 55258298 . G A 314.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.79;MQ0=0;OQ=5936.84;QD=20.19;RankSumP=0.0930887;SB=-2471.05;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1142C>T;refseq.codingCoordStr_2=c.1508C>T;refseq.codonCoord_1=381;refseq.codonCoord_2=503;refseq.end_1=55258298;refseq.end_2=55258298;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1403;refseq.mrnaCoord_2=1854;refseq.name2_1=C2orf63;refseq.name2_2=C2orf63;refseq.name_1=NM_001135598;refseq.name_2=NM_152385;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A381V;refseq.proteinCoordStr_2=p.A503V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=55258298;refseq.start_2=55258298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr2 55261258 . C T 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=27.93;MQ=98.85;MQ0=0;OQ=15757.99;QD=41.58;RankSumP=1.00000;SB=-7347.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.910G>A;refseq.codingCoordStr_2=c.1276G>A;refseq.codonCoord_1=304;refseq.codonCoord_2=426;refseq.end_1=55261258;refseq.end_2=55261258;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1171;refseq.mrnaCoord_2=1622;refseq.name2_1=C2orf63;refseq.name2_2=C2orf63;refseq.name_1=NM_001135598;refseq.name_2=NM_152385;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V304I;refseq.proteinCoordStr_2=p.V426I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.start_1=55261258;refseq.start_2=55261258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 55323619 . C T 317.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=92.56;MQ0=11;OQ=10123.16;QD=39.39;RankSumP=1.00000;SB=-4649.50;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1666G>A;refseq.codingCoordStr_2=c.1666G>A;refseq.codonCoord_1=556;refseq.codonCoord_2=556;refseq.end_1=55323619;refseq.end_2=55323619;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2403;refseq.mrnaCoord_2=1982;refseq.name2_1=MTIF2;refseq.name2_2=MTIF2;refseq.name_1=NM_001005369;refseq.name_2=NM_002453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V556I;refseq.proteinCoordStr_2=p.V556I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=55323619;refseq.start_2=55323619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr2 55334826 . T A 150.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.91;MQ0=0;OQ=4351.91;QD=14.55;RankSumP=0.385195;SB=-1298.24;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.519A>T;refseq.codingCoordStr_2=c.519A>T;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.end_1=55334826;refseq.end_2=55334826;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_2=835;refseq.name2_1=MTIF2;refseq.name2_2=MTIF2;refseq.name_1=NM_001005369;refseq.name_2=NM_002453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P173P;refseq.proteinCoordStr_2=p.P173P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=55334826;refseq.start_2=55334826;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr2 55344323 . G T 334.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.66;MQ0=0;OQ=11274.57;QD=38.09;RankSumP=1.00000;SB=-2498.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.176C>A;refseq.codingCoordStr_2=c.176C>A;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=55344323;refseq.end_2=55344323;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=913;refseq.mrnaCoord_2=492;refseq.name2_1=MTIF2;refseq.name2_2=MTIF2;refseq.name_1=NM_001005369;refseq.name_2=NM_002453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T59N;refseq.proteinCoordStr_2=p.T59N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=55344323;refseq.start_2=55344323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr2 55624665 . A G 157.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=9.70;MQ=98.82;MQ0=0;OQ=8801.93;QD=42.11;RankSumP=1.00000;SB=-3628.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.728A>G;refseq.codonCoord=243;refseq.end=55624665;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_080667;refseq.name2=CCDC104;refseq.positionType=CDS;refseq.proteinCoordStr=p.D243G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-50;refseq.start=55624665;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 58170318 . A G 351.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=98.65;MQ0=0;OQ=4266.04;QD=19.13;RankSumP=0.368705;SB=-1626.76;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.499A>G;refseq.codingCoordStr_2=c.499A>G;refseq.codingCoordStr_3=c.430A>G;refseq.codingCoordStr_4=c.499A>G;refseq.codingCoordStr_5=c.145A>G;refseq.codingCoordStr_6=c.499A>G;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=144;refseq.codonCoord_4=167;refseq.codonCoord_5=49;refseq.codonCoord_6=167;refseq.end_1=58170318;refseq.end_2=58170318;refseq.end_3=58170318;refseq.end_4=58170318;refseq.end_5=58170318;refseq.end_6=58170318;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=644;refseq.mrnaCoord_3=678;refseq.mrnaCoord_4=732;refseq.mrnaCoord_5=806;refseq.mrnaCoord_6=779;refseq.name2_1=VRK2;refseq.name2_2=VRK2;refseq.name2_3=VRK2;refseq.name2_4=VRK2;refseq.name2_5=VRK2;refseq.name2_6=VRK2;refseq.name_1=NM_001130480;refseq.name_2=NM_001130481;refseq.name_3=NM_001130482;refseq.name_4=NM_001130483;refseq.name_5=NM_001136027;refseq.name_6=NM_006296;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I167V;refseq.proteinCoordStr_2=p.I167V;refseq.proteinCoordStr_3=p.I144V;refseq.proteinCoordStr_4=p.I167V;refseq.proteinCoordStr_5=p.I49V;refseq.proteinCoordStr_6=p.I167V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.referenceCodon_6=ATA;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.spliceDist_5=-45;refseq.spliceDist_6=-45;refseq.start_1=58170318;refseq.start_2=58170318;refseq.start_3=58170318;refseq.start_4=58170318;refseq.start_5=58170318;refseq.start_6=58170318;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;refseq.variantCodon_6=GTA;set=Intersection GT 0/1 chr2 58242200 . A G 201 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.94;MQ0=0;OQ=4989.77;QD=19.96;RankSumP=0.277363;SB=-2088.70;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.996T>C;refseq.codingCoordStr_2=c.981T>C;refseq.codonCoord_1=332;refseq.codonCoord_2=327;refseq.end_1=58242200;refseq.end_2=58242200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1063;refseq.mrnaCoord_2=1048;refseq.name2_1=FANCL;refseq.name2_2=FANCL;refseq.name_1=NM_001114636;refseq.name_2=NM_018062;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S332S;refseq.proteinCoordStr_2=p.S327S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=58242200;refseq.start_2=58242200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr2 60541463 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=97.03;MQ0=0;OQ=1196.28;QD=12.46;RankSumP=0.407959;SB=-418.56;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.2088T>C;refseq.codingCoordStr_3=c.2088T>C;refseq.codonCoord_2=696;refseq.codonCoord_3=696;refseq.end_1=60542910;refseq.end_2=60541463;refseq.end_3=60541463;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2316;refseq.mrnaCoord_3=2316;refseq.name2_1=BCL11A;refseq.name2_2=BCL11A;refseq.name2_3=BCL11A;refseq.name_1=NM_138559;refseq.name_2=NM_018014;refseq.name_3=NM_022893;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S696S;refseq.proteinCoordStr_3=p.S696S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_2=-143;refseq.spliceDist_3=1601;refseq.start_1=60533316;refseq.start_2=60541463;refseq.start_3=60541463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr2 60541570 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.1981G>C;refseq.codingCoordStr_3=c.1981G>C;refseq.codonCoord_2=661;refseq.codonCoord_3=661;refseq.end_1=60542910;refseq.end_2=60541570;refseq.end_3=60541570;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2209;refseq.mrnaCoord_3=2209;refseq.name2_1=BCL11A;refseq.name2_2=BCL11A;refseq.name2_3=BCL11A;refseq.name_1=NM_138559;refseq.name_2=NM_018014;refseq.name_3=NM_022893;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A661P;refseq.proteinCoordStr_3=p.A661P;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_2=-250;refseq.spliceDist_3=1494;refseq.start_1=60533316;refseq.start_2=60541570;refseq.start_3=60541570;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr2 61028816 . T C 268 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=4377.11;QD=21.46;RankSumP=0.438117;SB=-1629.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1317A>G;refseq.codonCoord=439;refseq.end=61028816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_144709;refseq.name2=PUS10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K439K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=61028816;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 61042100 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr2;refseq.codingCoordStr=c.874+2;refseq.end=61042100;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_144709;refseq.name2=PUS10;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=61042100;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr2 61152321 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.227C>G;refseq.codingCoordStr_2=c.227C>G;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=61152321;refseq.end_2=61152321;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=604;refseq.name2_1=KIAA1841;refseq.name2_2=KIAA1841;refseq.name_1=NM_001129993;refseq.name_2=NM_032506;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A76G;refseq.proteinCoordStr_2=p.A76G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=61152321;refseq.start_2=61152321;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr2 61157775 . A G 192.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=3.30;MQ=98.82;MQ0=0;OQ=6659.53;QD=21.34;RankSumP=0.354648;SB=-2544.06;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.648A>G;refseq.codingCoordStr_2=c.648A>G;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.end_1=61157775;refseq.end_2=61157775;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=951;refseq.mrnaCoord_2=1025;refseq.name2_1=KIAA1841;refseq.name2_2=KIAA1841;refseq.name_1=NM_001129993;refseq.name_2=NM_032506;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K216K;refseq.proteinCoordStr_2=p.K216K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=61157775;refseq.start_2=61157775;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr2 61337052 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=169;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=2610.62;QD=15.45;RankSumP=0.207505;SB=-1009.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.6192T>A;refseq.codonCoord=2064;refseq.end=61337052;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6214;refseq.name=NM_014709;refseq.name2=USP34;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2064Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-30;refseq.start=61337052;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 61375627 . T C 345.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.92;MQ0=0;OQ=5599.74;QD=41.79;RankSumP=1.00000;SB=-2587.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4422A>G;refseq.codonCoord=1474;refseq.end=61375627;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4444;refseq.name=NM_014709;refseq.name2=USP34;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1474E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-40;refseq.start=61375627;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 61428812 . A G 261.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=8.64;MQ=99.00;MQ0=0;OQ=7183.39;QD=38.41;RankSumP=1.00000;SB=-2391.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1982T>C;refseq.codonCoord=661;refseq.end=61428812;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2004;refseq.name=NM_014709;refseq.name2=USP34;refseq.positionType=CDS;refseq.proteinCoordStr=p.M661T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-304;refseq.start=61428812;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 61430939 . T C 251.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2309.22;QD=16.98;RankSumP=0.310594;SB=-1008.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1467A>G;refseq.codonCoord=489;refseq.end=61430939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_014709;refseq.name2=USP34;refseq.positionType=CDS;refseq.proteinCoordStr=p.A489A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-41;refseq.start=61430939;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr2 61501405 . A G 273.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.78;MQ0=0;OQ=5515.51;QD=20.89;RankSumP=0.351913;SB=-1997.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.111T>C;refseq.codonCoord=37;refseq.end=61501405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_014709;refseq.name2=USP34;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y37Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-21;refseq.start=61501405;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr2 61572807 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1754G>T;refseq.codonCoord=585;refseq.end=61572807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2482;refseq.name=NM_003400;refseq.name2=XPO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C585F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=31;refseq.start=61572807;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr2 61920070 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1573C>A;refseq.codonCoord=525;refseq.end=61920070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1675;refseq.name=NM_032180;refseq.name2=FAM161A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q525K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-11;refseq.start=61920070;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr2 61920431 . A G 461.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=99.00;MQ0=0;OQ=6256.10;QD=39.10;RankSumP=1.00000;SB=-2039.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1212T>C;refseq.codonCoord=404;refseq.end=61920431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_032180;refseq.name2=FAM161A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C404C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-372;refseq.start=61920431;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr2 61958089 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.587A>C;refseq.codonCoord=196;refseq.end=61958089;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_006430;refseq.name2=CCT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D196A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-58;refseq.start=61958089;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr2 62583178 . T C 397.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=6405.53;QD=41.59;RankSumP=1.00000;SB=-1099.08;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.216A>G;refseq.codonCoord=72;refseq.end=62583178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=556;refseq.name=NM_198276;refseq.name2=TMEM17;refseq.positionType=CDS;refseq.proteinCoordStr=p.L72L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=12;refseq.start=62583178;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 62586693 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=14.58;MQ=98.06;MQ0=0;OQ=1846.68;QD=17.59;RankSumP=0.118043;SB=-515.12;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.76G>A;refseq.codonCoord=26;refseq.end=62586693;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_198276;refseq.name2=TMEM17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G26S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-25;refseq.start=62586693;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr2 62586733 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=62586733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_198276;refseq.name2=TMEM17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G12G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-65;refseq.start=62586733;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 62586757 . C T 120.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=4.59;MQ=97.36;MQ0=0;OQ=1412.13;QD=15.52;RankSumP=0.474682;SB=-312.81;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=62586757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_198276;refseq.name2=TMEM17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-89;refseq.start=62586757;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr2 64181048 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=18.65;MQ=98.55;MQ0=0;OQ=15686.95;QD=38.35;RankSumP=1.00000;SB=-3547.66;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.291C>A;refseq.codonCoord=97;refseq.end=64181048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_020651;refseq.name2=PELI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T97T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=64181048;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 64181096 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=567;Dels=0.00;HRun=0;HaplotypeScore=11.77;MQ=98.64;MQ0=0;OQ=23431.22;QD=41.32;RankSumP=1.00000;SB=-11120.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.243A>G;refseq.codonCoord=81;refseq.end=64181096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_020651;refseq.name2=PELI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L81L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=42;refseq.start=64181096;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 64185337 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.000153090;SecondBestBaseQ=12;refseq.chr=chr2;refseq.codingCoordStr=c.201+2;refseq.end=64185337;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020651;refseq.name2=PELI1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=64185337;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr2 64536965 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.237T>C;refseq.codonCoord=79;refseq.end=64536965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_014181;refseq.name2=HSPC159;refseq.positionType=CDS;refseq.proteinCoordStr=p.P79P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=40;refseq.start=64536965;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 67484484 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=467;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=98.68;MQ0=0;OQ=9994.20;QD=21.40;RankSumP=0.337761;SB=-3927.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1166G>A;refseq.codonCoord=389;refseq.end=67484484;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_019002;refseq.name2=ETAA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S389N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=624;refseq.start=67484484;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr2 67485335 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=2;HaplotypeScore=3.99;MQ=88.01;MQ0=47;OQ=6763.21;QD=19.49;RankSumP=0.357363;SB=-1924.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2017G>A;refseq.codonCoord=673;refseq.end=67485335;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2156;refseq.name=NM_019002;refseq.name2=ETAA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E673K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-637;refseq.start=67485335;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr2 67485629 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=9.97;MQ=98.57;MQ0=0;OQ=1843.17;QD=17.39;RankSumP=0.186803;SB=-814.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2311C>T;refseq.codonCoord=771;refseq.end=67485629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2450;refseq.name=NM_019002;refseq.name2=ETAA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P771S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-343;refseq.start=67485629;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 68123572 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=67.87;MQ0=1;OQ=400.03;QD=10.81;RankSumP=0.390093;SB=-15.60;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.379T>C;refseq.codingCoordStr_2=c.379T>C;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=68123572;refseq.end_2=68123572;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=471;refseq.mrnaCoord_2=458;refseq.name2_1=C1D;refseq.name2_2=C1D;refseq.name_1=NM_006333;refseq.name_2=NM_173177;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S127P;refseq.proteinCoordStr_2=p.S127P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=68123572;refseq.start_2=68123572;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr2 68127938 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=88;Dels=0.00;HRun=2;HaplotypeScore=3.01;MQ=87.21;MQ0=3;OQ=389.71;QD=4.43;RankSumP=1.17373e-06;SB=71.25;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.9T>G;refseq.codingCoordStr_2=c.9T>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=68127938;refseq.end_2=68127938;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=101;refseq.mrnaCoord_2=88;refseq.name2_1=C1D;refseq.name2_2=C1D;refseq.name_1=NM_006333;refseq.name_2=NM_173177;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3G;refseq.proteinCoordStr_2=p.G3G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=68127938;refseq.start_2=68127938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 68215404 . T G 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=2;RankSumP=0.151296;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.800A>C;refseq.codonCoord=267;refseq.end=68215404;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_138458;refseq.name2=WDR92;refseq.positionType=CDS;refseq.proteinCoordStr=p.H267P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=32;refseq.start=68215404;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr2 68215410 . A C 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=2;RankSumP=0.161935;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.794T>G;refseq.codonCoord=265;refseq.end=68215410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_138458;refseq.name2=WDR92;refseq.positionType=CDS;refseq.proteinCoordStr=p.V265G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=26;refseq.start=68215410;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr2 68217982 . T C 331.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.79;MQ0=0;OQ=5016.34;QD=21.72;RankSumP=0.411174;SB=-2097.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.721A>G;refseq.codonCoord=241;refseq.end=68217982;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_138458;refseq.name2=WDR92;refseq.positionType=CDS;refseq.proteinCoordStr=p.M241V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-48;refseq.start=68217982;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 68238601 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=3;HaplotypeScore=4.67;MQ=98.71;MQ0=0;OQ=1456.60;QD=10.87;RankSumP=0.180779;SB=-531.48;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.31A>G;refseq.codonCoord=11;refseq.end=68238601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=93;refseq.name=NM_020143;refseq.name2=PNO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R11G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=93;refseq.start=68238601;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr2 68399878 . T C 29.47 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.21;RankSumP=0.600000;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.159A>G;refseq.codingCoordStr_2=c.159A>G;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=68399878;refseq.end_2=68399878;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=810;refseq.name2_1=CNRIP1;refseq.name2_2=CNRIP1;refseq.name_1=NM_001111101;refseq.name_2=NM_015463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K53K;refseq.proteinCoordStr_2=p.K53K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=68399878;refseq.start_2=68399878;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 1/0 chr2 68399953 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=99.00;MQ0=0;OQ=170.83;QD=11.39;RankSumP=0.712954;SB=-63.07;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.84C>T;refseq.codingCoordStr_2=c.84C>T;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=68399953;refseq.end_2=68399953;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=735;refseq.name2_1=CNRIP1;refseq.name2_2=CNRIP1;refseq.name_1=NM_001111101;refseq.name_2=NM_015463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D28D;refseq.proteinCoordStr_2=p.D28D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-96;refseq.spliceDist_2=-96;refseq.start_1=68399953;refseq.start_2=68399953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr2 68461451 . G T 105.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=581;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.89;MQ0=0;OQ=11518.29;QD=19.82;RankSumP=0.474919;SB=-4729.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.291G>T;refseq.codonCoord=97;refseq.end=68461451;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_002664;refseq.name2=PLEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K97N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-90;refseq.start=68461451;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr2 68467214 . G A 285.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=15.72;MQ=99.00;MQ0=0;OQ=7391.33;QD=20.25;RankSumP=0.307815;SB=-2407.46;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.549G>A;refseq.codonCoord=183;refseq.end=68467214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_002664;refseq.name2=PLEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S183S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=77;refseq.start=68467214;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 68476418 . G A 267.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=7126.16;QD=42.42;RankSumP=1.00000;SB=-1082.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1019G>A;refseq.codonCoord=340;refseq.end=68476418;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_002664;refseq.name2=PLEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R340K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=103;refseq.start=68476418;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 68735562 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.532A>C;refseq.codonCoord=178;refseq.end=68735562;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_138964;refseq.name2=PROKR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T178P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=47;refseq.start=68735562;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr2 68735972 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=25.25;MQ=98.75;MQ0=0;OQ=8889.34;QD=17.67;RankSumP=0.138665;SB=-3541.35;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.942T>C;refseq.codonCoord=314;refseq.end=68735972;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_138964;refseq.name2=PROKR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F314F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-241;refseq.start=68735972;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr2 68903445 . T C 255.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=98.60;MQ0=0;OQ=1739.44;QD=20.23;RankSumP=0.446539;SB=-653.96;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1670T>C;refseq.codingCoordStr_2=c.1649T>C;refseq.codingCoordStr_3=c.1550T>C;refseq.codingCoordStr_4=c.1646T>C;refseq.codonCoord_1=557;refseq.codonCoord_2=550;refseq.codonCoord_3=517;refseq.codonCoord_4=549;refseq.end_1=68903445;refseq.end_2=68903445;refseq.end_3=68903445;refseq.end_4=68903445;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2089;refseq.mrnaCoord_2=2029;refseq.mrnaCoord_3=1969;refseq.mrnaCoord_4=2026;refseq.name2_1=ARHGAP25;refseq.name2_2=ARHGAP25;refseq.name2_3=ARHGAP25;refseq.name2_4=ARHGAP25;refseq.name_1=NM_001007231;refseq.name_2=NM_001166276;refseq.name_3=NM_001166277;refseq.name_4=NM_014882;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M557T;refseq.proteinCoordStr_2=p.M550T;refseq.proteinCoordStr_3=p.M517T;refseq.proteinCoordStr_4=p.M549T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.spliceDist_4=-64;refseq.start_1=68903445;refseq.start_2=68903445;refseq.start_3=68903445;refseq.start_4=68903445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/0 chr2 69512630 . A T 119.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=98.76;MQ0=0;OQ=2952.76;QD=15.88;RankSumP=0.226669;SB=-606.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.74T>A;refseq.codingCoordStr_2=c.-214T>A;refseq.codingCoordStr_3=c.-214T>A;refseq.codingCoordStr_4=c.2T>A;refseq.codonCoord_1=25;refseq.codonCoord_4=1;refseq.end_1=69512630;refseq.end_2=69512630;refseq.end_3=69512630;refseq.end_4=69512630;refseq.frame_1=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=273;refseq.mrnaCoord_2=363;refseq.mrnaCoord_3=273;refseq.mrnaCoord_4=363;refseq.name2_1=NFU1;refseq.name2_2=NFU1;refseq.name2_3=NFU1;refseq.name2_4=NFU1;refseq.name_1=NM_001002755;refseq.name_2=NM_001002756;refseq.name_3=NM_001002757;refseq.name_4=NM_015700;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M25K;refseq.proteinCoordStr_4=p.M1K;refseq.referenceAA_1=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.start_1=69512630;refseq.start_2=69512630;refseq.start_3=69512630;refseq.start_4=69512630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.uorfChange_2=-1;refseq.uorfChange_3=-1;refseq.variantAA_1=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 0/1 chr2 69887088 . C T 122.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=4.91;MQ=98.72;MQ0=0;OQ=9886.26;QD=21.08;RankSumP=0.235627;SB=-3864.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.260C>T;refseq.codonCoord=87;refseq.end=69887088;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_001153;refseq.name2=ANXA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T87M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-47;refseq.start=69887088;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr2 70016038 . T G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=265;Dels=0.00;HRun=2;HaplotypeScore=3.06;MQ=98.59;MQ0=0;OQ=10140.18;QD=38.26;RankSumP=1.00000;SB=-5048.25;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.255T>G;refseq.codonCoord=85;refseq.end=70016038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_002357;refseq.name2=MXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L85L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=52;refseq.start=70016038;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 70042180 . T C 315.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2164.28;QD=34.91;RankSumP=1.00000;SB=-1095.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.145A>G;refseq.codonCoord=49;refseq.end=70042180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_152792;refseq.name2=ASPRV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T49A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=722;refseq.start=70042180;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 70293369 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1114T>G;refseq.codingCoordStr_2=c.1147T>G;refseq.codonCoord_1=372;refseq.codonCoord_2=383;refseq.end_1=70293369;refseq.end_2=70293369;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1331;refseq.mrnaCoord_2=1364;refseq.name2_1=TIA1;refseq.name2_2=TIA1;refseq.name_1=NM_022037;refseq.name_2=NM_022173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y372D;refseq.proteinCoordStr_2=p.Y383D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=70293369;refseq.start_2=70293369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 0/1 chr2 70531502 . G A 126.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=5.10;MQ=98.16;MQ0=0;OQ=1416.26;QD=13.36;RankSumP=0.299604;SB=-612.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.477C>T;refseq.codingCoordStr_2=c.480C>T;refseq.codonCoord_1=159;refseq.codonCoord_2=160;refseq.end_1=70531502;refseq.end_2=70531502;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=686;refseq.name2_1=TGFA;refseq.name2_2=TGFA;refseq.name_1=NM_001099691;refseq.name_2=NM_003236;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V159V;refseq.proteinCoordStr_2=p.V160V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=70531502;refseq.start_2=70531502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr2 70897719 . C T 259.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=5.46;MQ=98.99;MQ0=0;OQ=3084.97;QD=17.53;RankSumP=0.347107;SB=-1245.69;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.302G>A;refseq.codonCoord=101;refseq.end=70897719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=379;refseq.name=NM_173535;refseq.name2=CLEC4F;refseq.positionType=CDS;refseq.proteinCoordStr=p.R101Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=34;refseq.start=70897719;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 71024315 . C T 216.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.64;MQ0=0;OQ=896.58;QD=15.73;RankSumP=0.319804;SB=-454.95;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.138C>T;refseq.codonCoord=46;refseq.end=71024315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_001692;refseq.name2=ATP6V1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S46S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=20;refseq.start=71024315;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr2 71043892 . C T 171.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=98.68;MQ0=0;OQ=8747.50;QD=38.71;RankSumP=1.00000;SB=-2895.87;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1002C>T;refseq.codonCoord=334;refseq.end=71043892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_001692;refseq.name2=ATP6V1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R334R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-59;refseq.start=71043892;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr2 71059775 . G A 91.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=96.20;MQ0=0;OQ=330.02;QD=15.00;RankSumP=0.0806253;SB=-157.61;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.211G>A;refseq.codingCoordStr_2=c.211G>A;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=71059775;refseq.end_2=71059775;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=412;refseq.name2_1=ANKRD53;refseq.name2_2=ANKRD53;refseq.name_1=NM_001115116;refseq.name_2=NM_024933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A71T;refseq.proteinCoordStr_2=p.A71T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=71059775;refseq.start_2=71059775;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr2 71075330 . A G 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=97.43;MQ0=0;OQ=152.95;QD=3.64;RankSumP=0.0222487;SB=-48.25;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=71075330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_144582;refseq.name2=TEX261;refseq.positionType=CDS;refseq.proteinCoordStr=p.A22A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=71075330;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr2 71153352 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.429C>G;refseq.codonCoord=143;refseq.end=71153352;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_017567;refseq.name2=NAGK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C143W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-38;refseq.start=71153352;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr2 71158246 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=98.53;MQ0=0;OQ=461.15;QD=7.56;RankSumP=0.564643;SB=-195.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.816G>A;refseq.codonCoord=272;refseq.end=71158246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_017567;refseq.name2=NAGK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V272V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-29;refseq.start=71158246;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr2 71158964 . C T 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=2;HaplotypeScore=2.90;MQ=95.59;MQ0=0;OQ=10766.64;QD=41.41;RankSumP=1.00000;SB=-4454.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.853C>T;refseq.codonCoord=285;refseq.end=71158964;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1259;refseq.name=NM_017567;refseq.name2=NAGK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L285L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=71158964;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 71204995 . G A 111.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=15.72;MQ=98.93;MQ0=0;OQ=8104.85;QD=41.14;RankSumP=1.00000;SB=-3481.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.227C>T;refseq.codonCoord=76;refseq.end=71204995;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_032601;refseq.name2=MCEE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A76V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-152;refseq.start=71204995;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr2 71486783 . T C 228.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.70;MQ0=0;OQ=12130.02;QD=41.68;RankSumP=1.00000;SB=-6053.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3018T>C;refseq.codingCoordStr_2=c.3018T>C;refseq.codonCoord_1=1006;refseq.codonCoord_2=1006;refseq.end_1=71486783;refseq.end_2=71486783;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3327;refseq.mrnaCoord_2=3337;refseq.name2_1=ZNF638;refseq.name2_2=ZNF638;refseq.name_1=NM_001014972;refseq.name_2=NM_014497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1006I;refseq.proteinCoordStr_2=p.I1006I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=71486783;refseq.start_2=71486783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 71486897 . C T 373.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.60;MQ0=0;OQ=5994.93;QD=41.63;RankSumP=1.00000;SB=-1595.54;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3132C>T;refseq.codingCoordStr_2=c.3132C>T;refseq.codonCoord_1=1044;refseq.codonCoord_2=1044;refseq.end_1=71486897;refseq.end_2=71486897;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3441;refseq.mrnaCoord_2=3451;refseq.name2_1=ZNF638;refseq.name2_2=ZNF638;refseq.name_1=NM_001014972;refseq.name_2=NM_014497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1044N;refseq.proteinCoordStr_2=p.N1044N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=71486897;refseq.start_2=71486897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr2 71633723 . T C 194.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=15.31;MQ=98.68;MQ0=0;OQ=5230.64;QD=15.25;RankSumP=0.0868222;SB=-1199.70;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.1830T>C;refseq.codingCoordStr_10=c.1788T>C;refseq.codingCoordStr_11=c.1881T>C;refseq.codingCoordStr_12=c.1788T>C;refseq.codingCoordStr_13=c.1881T>C;refseq.codingCoordStr_14=c.1827T>C;refseq.codingCoordStr_2=c.1785T>C;refseq.codingCoordStr_3=c.1785T>C;refseq.codingCoordStr_4=c.1827T>C;refseq.codingCoordStr_5=c.1920T>C;refseq.codingCoordStr_6=c.1878T>C;refseq.codingCoordStr_7=c.1878T>C;refseq.codingCoordStr_8=c.1923T>C;refseq.codingCoordStr_9=c.1830T>C;refseq.codonCoord_1=610;refseq.codonCoord_10=596;refseq.codonCoord_11=627;refseq.codonCoord_12=596;refseq.codonCoord_13=627;refseq.codonCoord_14=609;refseq.codonCoord_2=595;refseq.codonCoord_3=595;refseq.codonCoord_4=609;refseq.codonCoord_5=640;refseq.codonCoord_6=626;refseq.codonCoord_7=626;refseq.codonCoord_8=641;refseq.codonCoord_9=610;refseq.end_1=71633723;refseq.end_10=71633723;refseq.end_11=71633723;refseq.end_12=71633723;refseq.end_13=71633723;refseq.end_14=71633723;refseq.end_2=71633723;refseq.end_3=71633723;refseq.end_4=71633723;refseq.end_5=71633723;refseq.end_6=71633723;refseq.end_7=71633723;refseq.end_8=71633723;refseq.end_9=71633723;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_13=T;refseq.haplotypeReference_14=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1971;refseq.mrnaCoord_10=1929;refseq.mrnaCoord_11=2022;refseq.mrnaCoord_12=1929;refseq.mrnaCoord_13=2022;refseq.mrnaCoord_14=2203;refseq.mrnaCoord_2=2161;refseq.mrnaCoord_3=2161;refseq.mrnaCoord_4=2203;refseq.mrnaCoord_5=2296;refseq.mrnaCoord_6=2254;refseq.mrnaCoord_7=2254;refseq.mrnaCoord_8=2064;refseq.mrnaCoord_9=1971;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.D610D;refseq.proteinCoordStr_10=p.D596D;refseq.proteinCoordStr_11=p.D627D;refseq.proteinCoordStr_12=p.D596D;refseq.proteinCoordStr_13=p.D627D;refseq.proteinCoordStr_14=p.D609D;refseq.proteinCoordStr_2=p.D595D;refseq.proteinCoordStr_3=p.D595D;refseq.proteinCoordStr_4=p.D609D;refseq.proteinCoordStr_5=p.D640D;refseq.proteinCoordStr_6=p.D626D;refseq.proteinCoordStr_7=p.D626D;refseq.proteinCoordStr_8=p.D641D;refseq.proteinCoordStr_9=p.D610D;refseq.referenceAA_1=Asp;refseq.referenceAA_10=Asp;refseq.referenceAA_11=Asp;refseq.referenceAA_12=Asp;refseq.referenceAA_13=Asp;refseq.referenceAA_14=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceAA_8=Asp;refseq.referenceAA_9=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_10=GAT;refseq.referenceCodon_11=GAT;refseq.referenceCodon_12=GAT;refseq.referenceCodon_13=GAT;refseq.referenceCodon_14=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.referenceCodon_6=GAT;refseq.referenceCodon_7=GAT;refseq.referenceCodon_8=GAT;refseq.referenceCodon_9=GAT;refseq.spliceDist_1=75;refseq.spliceDist_10=75;refseq.spliceDist_11=75;refseq.spliceDist_12=75;refseq.spliceDist_13=75;refseq.spliceDist_14=75;refseq.spliceDist_2=75;refseq.spliceDist_3=75;refseq.spliceDist_4=75;refseq.spliceDist_5=75;refseq.spliceDist_6=75;refseq.spliceDist_7=75;refseq.spliceDist_8=75;refseq.spliceDist_9=75;refseq.start_1=71633723;refseq.start_10=71633723;refseq.start_11=71633723;refseq.start_12=71633723;refseq.start_13=71633723;refseq.start_14=71633723;refseq.start_2=71633723;refseq.start_3=71633723;refseq.start_4=71633723;refseq.start_5=71633723;refseq.start_6=71633723;refseq.start_7=71633723;refseq.start_8=71633723;refseq.start_9=71633723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Asp;refseq.variantAA_10=Asp;refseq.variantAA_11=Asp;refseq.variantAA_12=Asp;refseq.variantAA_13=Asp;refseq.variantAA_14=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantAA_7=Asp;refseq.variantAA_8=Asp;refseq.variantAA_9=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_10=GAC;refseq.variantCodon_11=GAC;refseq.variantCodon_12=GAC;refseq.variantCodon_13=GAC;refseq.variantCodon_14=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;refseq.variantCodon_7=GAC;refseq.variantCodon_8=GAC;refseq.variantCodon_9=GAC;set=Intersection GT 1/0 chr2 71633756 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=516;Dels=0.00;HRun=0;HaplotypeScore=32.99;MQ=98.77;MQ0=0;OQ=7051.60;QD=13.67;RankSumP=0.0154051;SB=-1196.92;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.1863C>T;refseq.codingCoordStr_10=c.1821C>T;refseq.codingCoordStr_11=c.1914C>T;refseq.codingCoordStr_12=c.1821C>T;refseq.codingCoordStr_13=c.1914C>T;refseq.codingCoordStr_14=c.1860C>T;refseq.codingCoordStr_2=c.1818C>T;refseq.codingCoordStr_3=c.1818C>T;refseq.codingCoordStr_4=c.1860C>T;refseq.codingCoordStr_5=c.1953C>T;refseq.codingCoordStr_6=c.1911C>T;refseq.codingCoordStr_7=c.1911C>T;refseq.codingCoordStr_8=c.1956C>T;refseq.codingCoordStr_9=c.1863C>T;refseq.codonCoord_1=621;refseq.codonCoord_10=607;refseq.codonCoord_11=638;refseq.codonCoord_12=607;refseq.codonCoord_13=638;refseq.codonCoord_14=620;refseq.codonCoord_2=606;refseq.codonCoord_3=606;refseq.codonCoord_4=620;refseq.codonCoord_5=651;refseq.codonCoord_6=637;refseq.codonCoord_7=637;refseq.codonCoord_8=652;refseq.codonCoord_9=621;refseq.end_1=71633756;refseq.end_10=71633756;refseq.end_11=71633756;refseq.end_12=71633756;refseq.end_13=71633756;refseq.end_14=71633756;refseq.end_2=71633756;refseq.end_3=71633756;refseq.end_4=71633756;refseq.end_5=71633756;refseq.end_6=71633756;refseq.end_7=71633756;refseq.end_8=71633756;refseq.end_9=71633756;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeAlternate_12=T;refseq.haplotypeAlternate_13=T;refseq.haplotypeAlternate_14=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_10=C;refseq.haplotypeReference_11=C;refseq.haplotypeReference_12=C;refseq.haplotypeReference_13=C;refseq.haplotypeReference_14=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=2004;refseq.mrnaCoord_10=1962;refseq.mrnaCoord_11=2055;refseq.mrnaCoord_12=1962;refseq.mrnaCoord_13=2055;refseq.mrnaCoord_14=2236;refseq.mrnaCoord_2=2194;refseq.mrnaCoord_3=2194;refseq.mrnaCoord_4=2236;refseq.mrnaCoord_5=2329;refseq.mrnaCoord_6=2287;refseq.mrnaCoord_7=2287;refseq.mrnaCoord_8=2097;refseq.mrnaCoord_9=2004;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.Y621Y;refseq.proteinCoordStr_10=p.Y607Y;refseq.proteinCoordStr_11=p.Y638Y;refseq.proteinCoordStr_12=p.Y607Y;refseq.proteinCoordStr_13=p.Y638Y;refseq.proteinCoordStr_14=p.Y620Y;refseq.proteinCoordStr_2=p.Y606Y;refseq.proteinCoordStr_3=p.Y606Y;refseq.proteinCoordStr_4=p.Y620Y;refseq.proteinCoordStr_5=p.Y651Y;refseq.proteinCoordStr_6=p.Y637Y;refseq.proteinCoordStr_7=p.Y637Y;refseq.proteinCoordStr_8=p.Y652Y;refseq.proteinCoordStr_9=p.Y621Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_10=Tyr;refseq.referenceAA_11=Tyr;refseq.referenceAA_12=Tyr;refseq.referenceAA_13=Tyr;refseq.referenceAA_14=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceAA_9=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_10=TAC;refseq.referenceCodon_11=TAC;refseq.referenceCodon_12=TAC;refseq.referenceCodon_13=TAC;refseq.referenceCodon_14=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.referenceCodon_8=TAC;refseq.referenceCodon_9=TAC;refseq.spliceDist_1=-71;refseq.spliceDist_10=-71;refseq.spliceDist_11=-71;refseq.spliceDist_12=-71;refseq.spliceDist_13=-71;refseq.spliceDist_14=-71;refseq.spliceDist_2=-71;refseq.spliceDist_3=-71;refseq.spliceDist_4=-71;refseq.spliceDist_5=-71;refseq.spliceDist_6=-71;refseq.spliceDist_7=-71;refseq.spliceDist_8=-71;refseq.spliceDist_9=-71;refseq.start_1=71633756;refseq.start_10=71633756;refseq.start_11=71633756;refseq.start_12=71633756;refseq.start_13=71633756;refseq.start_14=71633756;refseq.start_2=71633756;refseq.start_3=71633756;refseq.start_4=71633756;refseq.start_5=71633756;refseq.start_6=71633756;refseq.start_7=71633756;refseq.start_8=71633756;refseq.start_9=71633756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Tyr;refseq.variantAA_10=Tyr;refseq.variantAA_11=Tyr;refseq.variantAA_12=Tyr;refseq.variantAA_13=Tyr;refseq.variantAA_14=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantAA_8=Tyr;refseq.variantAA_9=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_10=TAT;refseq.variantCodon_11=TAT;refseq.variantCodon_12=TAT;refseq.variantCodon_13=TAT;refseq.variantCodon_14=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;refseq.variantCodon_6=TAT;refseq.variantCodon_7=TAT;refseq.variantCodon_8=TAT;refseq.variantCodon_9=TAT;set=Intersection GT 0/1 chr2 71634571 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.2058+2;refseq.codingCoordStr_10=c.2016+2;refseq.codingCoordStr_11=c.2109+2;refseq.codingCoordStr_12=c.2016+2;refseq.codingCoordStr_13=c.2109+2;refseq.codingCoordStr_14=c.2055+2;refseq.codingCoordStr_2=c.2013+2;refseq.codingCoordStr_3=c.2013+2;refseq.codingCoordStr_4=c.2055+2;refseq.codingCoordStr_5=c.2148+2;refseq.codingCoordStr_6=c.2106+2;refseq.codingCoordStr_7=c.2106+2;refseq.codingCoordStr_8=c.2151+2;refseq.codingCoordStr_9=c.2058+2;refseq.end_1=71634571;refseq.end_10=71634571;refseq.end_11=71634571;refseq.end_12=71634571;refseq.end_13=71634571;refseq.end_14=71634571;refseq.end_2=71634571;refseq.end_3=71634571;refseq.end_4=71634571;refseq.end_5=71634571;refseq.end_6=71634571;refseq.end_7=71634571;refseq.end_8=71634571;refseq.end_9=71634571;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_12=G;refseq.haplotypeAlternate_13=G;refseq.haplotypeAlternate_14=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_13=T;refseq.haplotypeReference_14=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.spliceDist_1=2;refseq.spliceDist_10=2;refseq.spliceDist_11=2;refseq.spliceDist_12=2;refseq.spliceDist_13=2;refseq.spliceDist_14=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceDist_6=2;refseq.spliceDist_7=2;refseq.spliceDist_8=2;refseq.spliceDist_9=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_10=splice-donor_2;refseq.spliceInfo_11=splice-donor_2;refseq.spliceInfo_12=splice-donor_2;refseq.spliceInfo_13=splice-donor_2;refseq.spliceInfo_14=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.spliceInfo_5=splice-donor_2;refseq.spliceInfo_6=splice-donor_2;refseq.spliceInfo_7=splice-donor_2;refseq.spliceInfo_8=splice-donor_2;refseq.spliceInfo_9=splice-donor_2;refseq.start_1=71634571;refseq.start_10=71634571;refseq.start_11=71634571;refseq.start_12=71634571;refseq.start_13=71634571;refseq.start_14=71634571;refseq.start_2=71634571;refseq.start_3=71634571;refseq.start_4=71634571;refseq.start_5=71634571;refseq.start_6=71634571;refseq.start_7=71634571;refseq.start_8=71634571;refseq.start_9=71634571;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;set=FilteredInAll GT 1/0 chr2 71648660 . A T 260.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=11.43;MQ=98.80;MQ0=0;OQ=12479.91;QD=38.40;RankSumP=1.00000;SB=-6038.14;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.2586A>T;refseq.codingCoordStr_10=c.2544A>T;refseq.codingCoordStr_11=c.2637A>T;refseq.codingCoordStr_12=c.2544A>T;refseq.codingCoordStr_13=c.2637A>T;refseq.codingCoordStr_14=c.2583A>T;refseq.codingCoordStr_2=c.2541A>T;refseq.codingCoordStr_3=c.2541A>T;refseq.codingCoordStr_4=c.2583A>T;refseq.codingCoordStr_5=c.2676A>T;refseq.codingCoordStr_6=c.2634A>T;refseq.codingCoordStr_7=c.2634A>T;refseq.codingCoordStr_8=c.2679A>T;refseq.codingCoordStr_9=c.2586A>T;refseq.codonCoord_1=862;refseq.codonCoord_10=848;refseq.codonCoord_11=879;refseq.codonCoord_12=848;refseq.codonCoord_13=879;refseq.codonCoord_14=861;refseq.codonCoord_2=847;refseq.codonCoord_3=847;refseq.codonCoord_4=861;refseq.codonCoord_5=892;refseq.codonCoord_6=878;refseq.codonCoord_7=878;refseq.codonCoord_8=893;refseq.codonCoord_9=862;refseq.end_1=71648660;refseq.end_10=71648660;refseq.end_11=71648660;refseq.end_12=71648660;refseq.end_13=71648660;refseq.end_14=71648660;refseq.end_2=71648660;refseq.end_3=71648660;refseq.end_4=71648660;refseq.end_5=71648660;refseq.end_6=71648660;refseq.end_7=71648660;refseq.end_8=71648660;refseq.end_9=71648660;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeAlternate_12=T;refseq.haplotypeAlternate_13=T;refseq.haplotypeAlternate_14=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_12=A;refseq.haplotypeReference_13=A;refseq.haplotypeReference_14=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=2727;refseq.mrnaCoord_10=2685;refseq.mrnaCoord_11=2778;refseq.mrnaCoord_12=2685;refseq.mrnaCoord_13=2778;refseq.mrnaCoord_14=2959;refseq.mrnaCoord_2=2917;refseq.mrnaCoord_3=2917;refseq.mrnaCoord_4=2959;refseq.mrnaCoord_5=3052;refseq.mrnaCoord_6=3010;refseq.mrnaCoord_7=3010;refseq.mrnaCoord_8=2820;refseq.mrnaCoord_9=2727;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.S862S;refseq.proteinCoordStr_10=p.S848S;refseq.proteinCoordStr_11=p.S879S;refseq.proteinCoordStr_12=p.S848S;refseq.proteinCoordStr_13=p.S879S;refseq.proteinCoordStr_14=p.S861S;refseq.proteinCoordStr_2=p.S847S;refseq.proteinCoordStr_3=p.S847S;refseq.proteinCoordStr_4=p.S861S;refseq.proteinCoordStr_5=p.S892S;refseq.proteinCoordStr_6=p.S878S;refseq.proteinCoordStr_7=p.S878S;refseq.proteinCoordStr_8=p.S893S;refseq.proteinCoordStr_9=p.S862S;refseq.referenceAA_1=Ser;refseq.referenceAA_10=Ser;refseq.referenceAA_11=Ser;refseq.referenceAA_12=Ser;refseq.referenceAA_13=Ser;refseq.referenceAA_14=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceAA_9=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_10=TCA;refseq.referenceCodon_11=TCA;refseq.referenceCodon_12=TCA;refseq.referenceCodon_13=TCA;refseq.referenceCodon_14=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.referenceCodon_6=TCA;refseq.referenceCodon_7=TCA;refseq.referenceCodon_8=TCA;refseq.referenceCodon_9=TCA;refseq.spliceDist_1=-61;refseq.spliceDist_10=-61;refseq.spliceDist_11=-61;refseq.spliceDist_12=-61;refseq.spliceDist_13=-61;refseq.spliceDist_14=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.spliceDist_5=-61;refseq.spliceDist_6=-61;refseq.spliceDist_7=-61;refseq.spliceDist_8=-61;refseq.spliceDist_9=-61;refseq.start_1=71648660;refseq.start_10=71648660;refseq.start_11=71648660;refseq.start_12=71648660;refseq.start_13=71648660;refseq.start_14=71648660;refseq.start_2=71648660;refseq.start_3=71648660;refseq.start_4=71648660;refseq.start_5=71648660;refseq.start_6=71648660;refseq.start_7=71648660;refseq.start_8=71648660;refseq.start_9=71648660;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Ser;refseq.variantAA_10=Ser;refseq.variantAA_11=Ser;refseq.variantAA_12=Ser;refseq.variantAA_13=Ser;refseq.variantAA_14=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantAA_9=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_10=TCT;refseq.variantCodon_11=TCT;refseq.variantCodon_12=TCT;refseq.variantCodon_13=TCT;refseq.variantCodon_14=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;refseq.variantCodon_7=TCT;refseq.variantCodon_8=TCT;refseq.variantCodon_9=TCT;set=Intersection GT 1/1 chr2 71681425 . G C 20 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=3.13235e-05;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.3791G>C;refseq.codingCoordStr_10=c.3749G>C;refseq.codingCoordStr_11=c.3842G>C;refseq.codingCoordStr_12=c.3749G>C;refseq.codingCoordStr_13=c.3842G>C;refseq.codingCoordStr_14=c.3788G>C;refseq.codingCoordStr_2=c.3746G>C;refseq.codingCoordStr_3=c.3746G>C;refseq.codingCoordStr_4=c.3788G>C;refseq.codingCoordStr_5=c.3881G>C;refseq.codingCoordStr_6=c.3839G>C;refseq.codingCoordStr_7=c.3839G>C;refseq.codingCoordStr_8=c.3884G>C;refseq.codingCoordStr_9=c.3791G>C;refseq.codonCoord_1=1264;refseq.codonCoord_10=1250;refseq.codonCoord_11=1281;refseq.codonCoord_12=1250;refseq.codonCoord_13=1281;refseq.codonCoord_14=1263;refseq.codonCoord_2=1249;refseq.codonCoord_3=1249;refseq.codonCoord_4=1263;refseq.codonCoord_5=1294;refseq.codonCoord_6=1280;refseq.codonCoord_7=1280;refseq.codonCoord_8=1295;refseq.codonCoord_9=1264;refseq.end_1=71681425;refseq.end_10=71681425;refseq.end_11=71681425;refseq.end_12=71681425;refseq.end_13=71681425;refseq.end_14=71681425;refseq.end_2=71681425;refseq.end_3=71681425;refseq.end_4=71681425;refseq.end_5=71681425;refseq.end_6=71681425;refseq.end_7=71681425;refseq.end_8=71681425;refseq.end_9=71681425;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_14=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_13=G;refseq.haplotypeReference_14=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=3932;refseq.mrnaCoord_10=3890;refseq.mrnaCoord_11=3983;refseq.mrnaCoord_12=3890;refseq.mrnaCoord_13=3983;refseq.mrnaCoord_14=4164;refseq.mrnaCoord_2=4122;refseq.mrnaCoord_3=4122;refseq.mrnaCoord_4=4164;refseq.mrnaCoord_5=4257;refseq.mrnaCoord_6=4215;refseq.mrnaCoord_7=4215;refseq.mrnaCoord_8=4025;refseq.mrnaCoord_9=3932;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.G1264A;refseq.proteinCoordStr_10=p.G1250A;refseq.proteinCoordStr_11=p.G1281A;refseq.proteinCoordStr_12=p.G1250A;refseq.proteinCoordStr_13=p.G1281A;refseq.proteinCoordStr_14=p.G1263A;refseq.proteinCoordStr_2=p.G1249A;refseq.proteinCoordStr_3=p.G1249A;refseq.proteinCoordStr_4=p.G1263A;refseq.proteinCoordStr_5=p.G1294A;refseq.proteinCoordStr_6=p.G1280A;refseq.proteinCoordStr_7=p.G1280A;refseq.proteinCoordStr_8=p.G1295A;refseq.proteinCoordStr_9=p.G1264A;refseq.referenceAA_1=Gly;refseq.referenceAA_10=Gly;refseq.referenceAA_11=Gly;refseq.referenceAA_12=Gly;refseq.referenceAA_13=Gly;refseq.referenceAA_14=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceAA_9=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_10=GGC;refseq.referenceCodon_11=GGC;refseq.referenceCodon_12=GGC;refseq.referenceCodon_13=GGC;refseq.referenceCodon_14=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.referenceCodon_7=GGC;refseq.referenceCodon_8=GGC;refseq.referenceCodon_9=GGC;refseq.spliceDist_1=-56;refseq.spliceDist_10=-56;refseq.spliceDist_11=-56;refseq.spliceDist_12=-56;refseq.spliceDist_13=-56;refseq.spliceDist_14=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.spliceDist_4=-56;refseq.spliceDist_5=-56;refseq.spliceDist_6=-56;refseq.spliceDist_7=-56;refseq.spliceDist_8=-56;refseq.spliceDist_9=-56;refseq.start_1=71681425;refseq.start_10=71681425;refseq.start_11=71681425;refseq.start_12=71681425;refseq.start_13=71681425;refseq.start_14=71681425;refseq.start_2=71681425;refseq.start_3=71681425;refseq.start_4=71681425;refseq.start_5=71681425;refseq.start_6=71681425;refseq.start_7=71681425;refseq.start_8=71681425;refseq.start_9=71681425;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Ala;refseq.variantAA_10=Ala;refseq.variantAA_11=Ala;refseq.variantAA_12=Ala;refseq.variantAA_13=Ala;refseq.variantAA_14=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_10=GCC;refseq.variantCodon_11=GCC;refseq.variantCodon_12=GCC;refseq.variantCodon_13=GCC;refseq.variantCodon_14=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;refseq.variantCodon_9=GCC;set=FilteredInAll GT 0/1 chr2 71692105 . C A 218.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=98.22;MQ0=0;OQ=8249.99;QD=34.23;RankSumP=1.00000;SB=-2512.48;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.4011C>A;refseq.codingCoordStr_10=c.3969C>A;refseq.codingCoordStr_11=c.4062C>A;refseq.codingCoordStr_12=c.3969C>A;refseq.codingCoordStr_13=c.4062C>A;refseq.codingCoordStr_14=c.4008C>A;refseq.codingCoordStr_2=c.3966C>A;refseq.codingCoordStr_3=c.3966C>A;refseq.codingCoordStr_4=c.4008C>A;refseq.codingCoordStr_5=c.4101C>A;refseq.codingCoordStr_6=c.4059C>A;refseq.codingCoordStr_7=c.4059C>A;refseq.codingCoordStr_8=c.4104C>A;refseq.codingCoordStr_9=c.4011C>A;refseq.codonCoord_1=1337;refseq.codonCoord_10=1323;refseq.codonCoord_11=1354;refseq.codonCoord_12=1323;refseq.codonCoord_13=1354;refseq.codonCoord_14=1336;refseq.codonCoord_2=1322;refseq.codonCoord_3=1322;refseq.codonCoord_4=1336;refseq.codonCoord_5=1367;refseq.codonCoord_6=1353;refseq.codonCoord_7=1353;refseq.codonCoord_8=1368;refseq.codonCoord_9=1337;refseq.end_1=71692105;refseq.end_10=71692105;refseq.end_11=71692105;refseq.end_12=71692105;refseq.end_13=71692105;refseq.end_14=71692105;refseq.end_2=71692105;refseq.end_3=71692105;refseq.end_4=71692105;refseq.end_5=71692105;refseq.end_6=71692105;refseq.end_7=71692105;refseq.end_8=71692105;refseq.end_9=71692105;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_12=A;refseq.haplotypeAlternate_13=A;refseq.haplotypeAlternate_14=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_10=C;refseq.haplotypeReference_11=C;refseq.haplotypeReference_12=C;refseq.haplotypeReference_13=C;refseq.haplotypeReference_14=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=4152;refseq.mrnaCoord_10=4110;refseq.mrnaCoord_11=4203;refseq.mrnaCoord_12=4110;refseq.mrnaCoord_13=4203;refseq.mrnaCoord_14=4384;refseq.mrnaCoord_2=4342;refseq.mrnaCoord_3=4342;refseq.mrnaCoord_4=4384;refseq.mrnaCoord_5=4477;refseq.mrnaCoord_6=4435;refseq.mrnaCoord_7=4435;refseq.mrnaCoord_8=4245;refseq.mrnaCoord_9=4152;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.I1337I;refseq.proteinCoordStr_10=p.I1323I;refseq.proteinCoordStr_11=p.I1354I;refseq.proteinCoordStr_12=p.I1323I;refseq.proteinCoordStr_13=p.I1354I;refseq.proteinCoordStr_14=p.I1336I;refseq.proteinCoordStr_2=p.I1322I;refseq.proteinCoordStr_3=p.I1322I;refseq.proteinCoordStr_4=p.I1336I;refseq.proteinCoordStr_5=p.I1367I;refseq.proteinCoordStr_6=p.I1353I;refseq.proteinCoordStr_7=p.I1353I;refseq.proteinCoordStr_8=p.I1368I;refseq.proteinCoordStr_9=p.I1337I;refseq.referenceAA_1=Ile;refseq.referenceAA_10=Ile;refseq.referenceAA_11=Ile;refseq.referenceAA_12=Ile;refseq.referenceAA_13=Ile;refseq.referenceAA_14=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceAA_8=Ile;refseq.referenceAA_9=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_10=ATC;refseq.referenceCodon_11=ATC;refseq.referenceCodon_12=ATC;refseq.referenceCodon_13=ATC;refseq.referenceCodon_14=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.referenceCodon_6=ATC;refseq.referenceCodon_7=ATC;refseq.referenceCodon_8=ATC;refseq.referenceCodon_9=ATC;refseq.spliceDist_1=3;refseq.spliceDist_10=3;refseq.spliceDist_11=3;refseq.spliceDist_12=3;refseq.spliceDist_13=3;refseq.spliceDist_14=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceDist_5=3;refseq.spliceDist_6=3;refseq.spliceDist_7=3;refseq.spliceDist_8=3;refseq.spliceDist_9=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_10=splice-acceptor_3;refseq.spliceInfo_11=splice-acceptor_3;refseq.spliceInfo_12=splice-acceptor_3;refseq.spliceInfo_13=splice-acceptor_3;refseq.spliceInfo_14=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.spliceInfo_5=splice-acceptor_3;refseq.spliceInfo_6=splice-acceptor_3;refseq.spliceInfo_7=splice-acceptor_3;refseq.spliceInfo_8=splice-acceptor_3;refseq.spliceInfo_9=splice-acceptor_3;refseq.start_1=71692105;refseq.start_10=71692105;refseq.start_11=71692105;refseq.start_12=71692105;refseq.start_13=71692105;refseq.start_14=71692105;refseq.start_2=71692105;refseq.start_3=71692105;refseq.start_4=71692105;refseq.start_5=71692105;refseq.start_6=71692105;refseq.start_7=71692105;refseq.start_8=71692105;refseq.start_9=71692105;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Ile;refseq.variantAA_10=Ile;refseq.variantAA_11=Ile;refseq.variantAA_12=Ile;refseq.variantAA_13=Ile;refseq.variantAA_14=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantAA_7=Ile;refseq.variantAA_8=Ile;refseq.variantAA_9=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_10=ATA;refseq.variantCodon_11=ATA;refseq.variantCodon_12=ATA;refseq.variantCodon_13=ATA;refseq.variantCodon_14=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;refseq.variantCodon_5=ATA;refseq.variantCodon_6=ATA;refseq.variantCodon_7=ATA;refseq.variantCodon_8=ATA;refseq.variantCodon_9=ATA;set=Intersection GT 1/1 chr2 71736801 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_11=chr2;refseq.chr_12=chr2;refseq.chr_13=chr2;refseq.chr_14=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.4514T>G;refseq.codingCoordStr_10=c.4535T>G;refseq.codingCoordStr_11=c.4565T>G;refseq.codingCoordStr_12=c.4472T>G;refseq.codingCoordStr_13=c.4628T>G;refseq.codingCoordStr_14=c.4511T>G;refseq.codingCoordStr_2=c.4469T>G;refseq.codingCoordStr_3=c.4532T>G;refseq.codingCoordStr_4=c.4574T>G;refseq.codingCoordStr_5=c.4604T>G;refseq.codingCoordStr_6=c.4562T>G;refseq.codingCoordStr_7=c.4625T>G;refseq.codingCoordStr_8=c.4607T>G;refseq.codingCoordStr_9=c.4577T>G;refseq.codonCoord_1=1505;refseq.codonCoord_10=1512;refseq.codonCoord_11=1522;refseq.codonCoord_12=1491;refseq.codonCoord_13=1543;refseq.codonCoord_14=1504;refseq.codonCoord_2=1490;refseq.codonCoord_3=1511;refseq.codonCoord_4=1525;refseq.codonCoord_5=1535;refseq.codonCoord_6=1521;refseq.codonCoord_7=1542;refseq.codonCoord_8=1536;refseq.codonCoord_9=1526;refseq.end_1=71736801;refseq.end_10=71736801;refseq.end_11=71736801;refseq.end_12=71736801;refseq.end_13=71736801;refseq.end_14=71736801;refseq.end_2=71736801;refseq.end_3=71736801;refseq.end_4=71736801;refseq.end_5=71736801;refseq.end_6=71736801;refseq.end_7=71736801;refseq.end_8=71736801;refseq.end_9=71736801;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_14=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_12=G;refseq.haplotypeAlternate_13=G;refseq.haplotypeAlternate_14=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_13=T;refseq.haplotypeReference_14=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=4655;refseq.mrnaCoord_10=4676;refseq.mrnaCoord_11=4706;refseq.mrnaCoord_12=4613;refseq.mrnaCoord_13=4769;refseq.mrnaCoord_14=4887;refseq.mrnaCoord_2=4845;refseq.mrnaCoord_3=4908;refseq.mrnaCoord_4=4950;refseq.mrnaCoord_5=4980;refseq.mrnaCoord_6=4938;refseq.mrnaCoord_7=5001;refseq.mrnaCoord_8=4748;refseq.mrnaCoord_9=4718;refseq.name2_1=DYSF;refseq.name2_10=DYSF;refseq.name2_11=DYSF;refseq.name2_12=DYSF;refseq.name2_13=DYSF;refseq.name2_14=DYSF;refseq.name2_2=DYSF;refseq.name2_3=DYSF;refseq.name2_4=DYSF;refseq.name2_5=DYSF;refseq.name2_6=DYSF;refseq.name2_7=DYSF;refseq.name2_8=DYSF;refseq.name2_9=DYSF;refseq.name_1=NM_001130455;refseq.name_10=NM_001130984;refseq.name_11=NM_001130985;refseq.name_12=NM_001130986;refseq.name_13=NM_001130987;refseq.name_14=NM_003494;refseq.name_2=NM_001130976;refseq.name_3=NM_001130977;refseq.name_4=NM_001130978;refseq.name_5=NM_001130979;refseq.name_6=NM_001130980;refseq.name_7=NM_001130981;refseq.name_8=NM_001130982;refseq.name_9=NM_001130983;refseq.numMatchingRecords=14;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.V1505G;refseq.proteinCoordStr_10=p.V1512G;refseq.proteinCoordStr_11=p.V1522G;refseq.proteinCoordStr_12=p.V1491G;refseq.proteinCoordStr_13=p.V1543G;refseq.proteinCoordStr_14=p.V1504G;refseq.proteinCoordStr_2=p.V1490G;refseq.proteinCoordStr_3=p.V1511G;refseq.proteinCoordStr_4=p.V1525G;refseq.proteinCoordStr_5=p.V1535G;refseq.proteinCoordStr_6=p.V1521G;refseq.proteinCoordStr_7=p.V1542G;refseq.proteinCoordStr_8=p.V1536G;refseq.proteinCoordStr_9=p.V1526G;refseq.referenceAA_1=Val;refseq.referenceAA_10=Val;refseq.referenceAA_11=Val;refseq.referenceAA_12=Val;refseq.referenceAA_13=Val;refseq.referenceAA_14=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceAA_8=Val;refseq.referenceAA_9=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_10=GTC;refseq.referenceCodon_11=GTC;refseq.referenceCodon_12=GTC;refseq.referenceCodon_13=GTC;refseq.referenceCodon_14=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.referenceCodon_6=GTC;refseq.referenceCodon_7=GTC;refseq.referenceCodon_8=GTC;refseq.referenceCodon_9=GTC;refseq.spliceDist_1=2;refseq.spliceDist_10=2;refseq.spliceDist_11=2;refseq.spliceDist_12=2;refseq.spliceDist_13=2;refseq.spliceDist_14=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceDist_6=2;refseq.spliceDist_7=2;refseq.spliceDist_8=2;refseq.spliceDist_9=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_10=splice-acceptor_2;refseq.spliceInfo_11=splice-acceptor_2;refseq.spliceInfo_12=splice-acceptor_2;refseq.spliceInfo_13=splice-acceptor_2;refseq.spliceInfo_14=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.spliceInfo_5=splice-acceptor_2;refseq.spliceInfo_6=splice-acceptor_2;refseq.spliceInfo_7=splice-acceptor_2;refseq.spliceInfo_8=splice-acceptor_2;refseq.spliceInfo_9=splice-acceptor_2;refseq.start_1=71736801;refseq.start_10=71736801;refseq.start_11=71736801;refseq.start_12=71736801;refseq.start_13=71736801;refseq.start_14=71736801;refseq.start_2=71736801;refseq.start_3=71736801;refseq.start_4=71736801;refseq.start_5=71736801;refseq.start_6=71736801;refseq.start_7=71736801;refseq.start_8=71736801;refseq.start_9=71736801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Gly;refseq.variantAA_10=Gly;refseq.variantAA_11=Gly;refseq.variantAA_12=Gly;refseq.variantAA_13=Gly;refseq.variantAA_14=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_10=GGC;refseq.variantCodon_11=GGC;refseq.variantCodon_12=GGC;refseq.variantCodon_13=GGC;refseq.variantCodon_14=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;refseq.variantCodon_7=GGC;refseq.variantCodon_8=GGC;refseq.variantCodon_9=GGC;set=FilteredInAll GT 1/0 chr2 73005048 . A G 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.000580037;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.623A>G;refseq.codonCoord=208;refseq.end=73005048;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1001;refseq.name=NM_004097;refseq.name2=EMX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E208G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-83;refseq.start=73005048;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 73193216 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.05;MQ0=0;OQ=706.58;QD=12.40;RankSumP=0.248112;SB=-225.73;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.198C>T;refseq.codonCoord=66;refseq.end=73193216;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_015470;refseq.name2=RAB11FIP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C66C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-234;refseq.start=73193216;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr2 73302513 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.589A>C;refseq.codonCoord=197;refseq.end=73302513;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_006062;refseq.name2=SMYD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T197P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=52;refseq.start=73302513;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr2 73309149 . C A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.333034;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.508G>T;refseq.codonCoord=170;refseq.end=73309149;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_032319;refseq.name2=C2orf7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V170F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=62;refseq.start=73309149;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr2 73331969 . A T 306.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4110.76;QD=39.91;RankSumP=1.00000;SB=-1395.48;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_3=c.699A>T;refseq.codingCoordStr_4=c.1050A>T;refseq.codingCoordStr_5=c.1179A>T;refseq.codingCoordStr_6=c.1311A>T;refseq.codonCoord_3=233;refseq.codonCoord_4=350;refseq.codonCoord_5=393;refseq.codonCoord_6=437;refseq.end_1=73331969;refseq.end_2=73331969;refseq.end_3=73331969;refseq.end_4=73331969;refseq.end_5=73331969;refseq.end_6=73331969;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1401;refseq.mrnaCoord_2=1305;refseq.mrnaCoord_3=842;refseq.mrnaCoord_4=1193;refseq.mrnaCoord_5=1550;refseq.mrnaCoord_6=1454;refseq.name2_1=CCT7;refseq.name2_2=CCT7;refseq.name2_3=CCT7;refseq.name2_4=CCT7;refseq.name2_5=CCT7;refseq.name2_6=CCT7;refseq.name_1=NR_029402;refseq.name_2=NR_029403;refseq.name_3=NM_001009570;refseq.name_4=NM_001166284;refseq.name_5=NM_001166285;refseq.name_6=NM_006429;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.A233A;refseq.proteinCoordStr_4=p.A350A;refseq.proteinCoordStr_5=p.A393A;refseq.proteinCoordStr_6=p.A437A;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.spliceDist_1=-100;refseq.spliceDist_2=-100;refseq.spliceDist_3=-100;refseq.spliceDist_4=-100;refseq.spliceDist_5=-100;refseq.spliceDist_6=-100;refseq.start_1=73331969;refseq.start_2=73331969;refseq.start_3=73331969;refseq.start_4=73331969;refseq.start_5=73331969;refseq.start_6=73331969;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;set=Intersection GT 1/1 chr2 73529177 . T G 186.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.63;MQ0=0;OQ=2353.34;QD=15.09;RankSumP=0.0260813;SB=-1000.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2012T>G;refseq.codonCoord=671;refseq.end=73529177;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2123;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V671G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=580;refseq.start=73529177;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr2 73529352 . C T 103.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=2;HaplotypeScore=10.48;MQ=98.60;MQ0=0;OQ=3011.18;QD=17.82;RankSumP=0.192739;SB=-1448.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2187C>T;refseq.codonCoord=729;refseq.end=73529352;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F729F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=755;refseq.start=73529352;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr2 73530253 . A G 104.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=281;Dels=0.00;HRun=0;HaplotypeScore=7.18;MQ=98.74;MQ0=0;OQ=5602.12;QD=19.94;RankSumP=0.287600;SB=-1822.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3088A>G;refseq.codonCoord=1030;refseq.end=73530253;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3199;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1030A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1656;refseq.start=73530253;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr2 73570318 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=693;Dels=0.00;HRun=1;HaplotypeScore=5.33;MQ=98.82;MQ0=0;OQ=13417.77;QD=19.36;RankSumP=0.319277;SB=-4760.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.7721G>A;refseq.codonCoord=2574;refseq.end=73570318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7832;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2574N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=50;refseq.start=73570318;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr2 73570611 . G C 115.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=505;Dels=0.00;HRun=1;HaplotypeScore=5.03;MQ=98.86;MQ0=0;OQ=11224.36;QD=22.23;RankSumP=0.259406;SB=-3077.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8014G>C;refseq.codonCoord=2672;refseq.end=73570611;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8125;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2672H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=343;refseq.start=73570611;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr2 73682046 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=97.29;MQ0=0;OQ=408.91;QD=11.36;RankSumP=0.247546;SB=-119.93;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12086G>A;refseq.codonCoord=4029;refseq.end=73682046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12197;refseq.name=NM_015120;refseq.name2=ALMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4029K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-26;refseq.start=73682046;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 73810632 . A G 200.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=774.68;QD=16.14;RankSumP=0.690589;SB=-397.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.474T>C;refseq.codonCoord=158;refseq.end=73810632;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_016058;refseq.name2=TPRKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I158I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=33;refseq.start=73810632;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr2 73989406 . A G 126.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=99.00;MQ0=0;OQ=1729.70;QD=13.73;RankSumP=0.108607;SB=-274.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.354A>G;refseq.codonCoord=118;refseq.end=73989406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_001615;refseq.name2=ACTG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E118E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-13;refseq.start=73989406;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr2 74290614 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.600A>G;refseq.codonCoord_2=200;refseq.end_1=74290614;refseq.end_2=74290614;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=777;refseq.mrnaCoord_2=679;refseq.name2_1=MTHFD2;refseq.name2_2=MTHFD2;refseq.name_1=NR_027405;refseq.name_2=NM_006636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G200G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=74290614;refseq.start_2=74290614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 74320102 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=23.29;MQ=98.34;MQ0=0;OQ=4662.81;QD=21.59;RankSumP=0.00908955;SB=-2001.24;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2187C>T;refseq.codingCoordStr_2=c.2187C>T;refseq.codonCoord_1=729;refseq.codonCoord_2=729;refseq.end_1=74320102;refseq.end_2=74320102;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2189;refseq.mrnaCoord_2=2585;refseq.name2_1=SLC4A5;refseq.name2_2=SLC4A5;refseq.name_1=NM_021196;refseq.name_2=NM_133478;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G729G;refseq.proteinCoordStr_2=p.G729G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=74320102;refseq.start_2=74320102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 1/0 chr2 74342826 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.42;MQ0=0;OQ=1708.76;QD=12.38;RankSumP=0.00819282;SB=-732.65;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.757C>T;refseq.codingCoordStr_2=c.757C>T;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.end_1=74342826;refseq.end_2=74342826;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=759;refseq.mrnaCoord_2=1155;refseq.name2_1=SLC4A5;refseq.name2_2=SLC4A5;refseq.name_1=NM_021196;refseq.name_2=NM_133478;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H253Y;refseq.proteinCoordStr_2=p.H253Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=74342826;refseq.start_2=74342826;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=filterInsoap-gatk GT 1/0 chr2 74442183 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.3713T>G;refseq.codingCoordStr_2=c.3371T>G;refseq.codingCoordStr_3=c.3788T>G;refseq.codingCoordStr_4=c.3386T>G;refseq.codonCoord_1=1238;refseq.codonCoord_2=1124;refseq.codonCoord_3=1263;refseq.codonCoord_4=1129;refseq.end_1=74442183;refseq.end_2=74442183;refseq.end_3=74442183;refseq.end_4=74442183;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4024;refseq.mrnaCoord_2=3754;refseq.mrnaCoord_3=4099;refseq.mrnaCoord_4=3769;refseq.name2_1=DCTN1;refseq.name2_2=DCTN1;refseq.name2_3=DCTN1;refseq.name2_4=DCTN1;refseq.name_1=NM_001135040;refseq.name_2=NM_001135041;refseq.name_3=NM_004082;refseq.name_4=NM_023019;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V1238G;refseq.proteinCoordStr_2=p.V1124G;refseq.proteinCoordStr_3=p.V1263G;refseq.proteinCoordStr_4=p.V1129G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.spliceDist_4=89;refseq.start_1=74442183;refseq.start_2=74442183;refseq.start_3=74442183;refseq.start_4=74442183;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr2 74506120 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=4.68466e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.867C>A;refseq.codonCoord=289;refseq.end=74506120;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=927;refseq.name=NM_032118;refseq.name2=WDR54;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y289*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=74506120;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr2 74513177 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.236A>C;refseq.codingCoordStr_2=c.86A>C;refseq.codingCoordStr_3=c.197A>C;refseq.codonCoord_1=79;refseq.codonCoord_2=29;refseq.codonCoord_3=66;refseq.end_1=74513177;refseq.end_2=74513177;refseq.end_3=74513177;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=353;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=783;refseq.name2_1=RTKN;refseq.name2_2=RTKN;refseq.name2_3=RTKN;refseq.name_1=NM_001015055;refseq.name_2=NM_001015056;refseq.name_3=NM_033046;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N79T;refseq.proteinCoordStr_2=p.N29T;refseq.proteinCoordStr_3=p.N66T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=74513177;refseq.start_2=74513177;refseq.start_3=74513177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr2 74538464 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=7;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1036C>G;refseq.codonCoord=346;refseq.end=74538464;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_031288;refseq.name2=INO80B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P346A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-132;refseq.start=74538464;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr2 74540355 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.147C>G;refseq.codonCoord=49;refseq.end=74540355;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_012477;refseq.name2=WBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C49W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-26;refseq.start=74540355;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr2 74541289 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=63.72;MQ0=13;OQ=2087.62;QD=13.83;RankSumP=0.273572;SB=-787.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.783G>A;refseq.codonCoord=261;refseq.end=74541289;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_012477;refseq.name2=WBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L261L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-230;refseq.start=74541289;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 74555224 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=8.73385e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2189A>C;refseq.codonCoord=730;refseq.end=74555224;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2582;refseq.name=NM_032779;refseq.name2=CCDC142;refseq.positionType=CDS;refseq.proteinCoordStr=p.H730P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=214;refseq.start=74555224;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 74578652 . T C 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.90;MQ0=0;OQ=1000.18;QD=34.49;RankSumP=1.00000;SB=-320.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.495A>G;refseq.codonCoord=165;refseq.end=74578652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=952;refseq.name=NM_001009812;refseq.name2=LBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E165E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=302;refseq.start=74578652;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 74587449 . G A 107.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=329;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.92;MQ0=0;OQ=6362.86;QD=19.34;RankSumP=0.0770553;SB=-2201.40;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.270C>T;refseq.codonCoord=90;refseq.end=74587449;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_032673;refseq.name2=PCGF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H90H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=71;refseq.start=74587449;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr2 74637511 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1208A>C;refseq.codonCoord=403;refseq.end=74637511;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_001381;refseq.name2=DOK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N403T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=569;refseq.start=74637511;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr2 74754096 . G T 157.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=14.68;MQ=98.47;MQ0=0;OQ=5896.48;QD=15.77;RankSumP=1.66623e-06;SB=-2242.76;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.555G>T;refseq.codonCoord=185;refseq.end=74754096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=666;refseq.name=NM_004263;refseq.name2=SEMA4F;refseq.positionType=CDS;refseq.proteinCoordStr=p.G185G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=74754096;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr2 74954504 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.617T>G;refseq.codonCoord=206;refseq.end=74954504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2543;refseq.name=NM_000189;refseq.name2=HK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V206G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=74954504;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 74959438 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.000777001;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1147G>C;refseq.codonCoord=383;refseq.end=74959438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3073;refseq.name=NM_000189;refseq.name2=HK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A383P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=116;refseq.start=74959438;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 75039364 rs12366 G T 30.79 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=88.40;MQ0=0;QD=10.26;SB=-10.00;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.50G>T;refseq.codonCoord=17;refseq.end=75039364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=82;refseq.name=NM_019896;refseq.name2=POLE4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G17V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=82;refseq.start=75039364;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,2:2:-6.49,-0.60,-0.00:6.01 chr2 75279236 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=647;Dels=0.00;HRun=3;HaplotypeScore=9.44;MQ=98.83;MQ0=0;OQ=13374.21;QD=20.67;RankSumP=2.12169e-05;SB=-5121.74;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.333T>C;refseq.codingCoordStr_2=c.333T>C;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.end_1=75279236;refseq.end_2=75279236;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=918;refseq.mrnaCoord_2=918;refseq.name2_1=TACR1;refseq.name2_2=TACR1;refseq.name_1=NM_001058;refseq.name_2=NM_015727;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F111F;refseq.proteinCoordStr_2=p.F111F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=75279236;refseq.start_2=75279236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 0/1 chr2 75735907 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=4;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1943.52;QD=15.93;RankSumP=0.158341;SB=-527.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.867G>A;refseq.codonCoord=289;refseq.end=75735907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_014763;refseq.name2=MRPL19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S289S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=210;refseq.start=75735907;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 75760859 . T C 207.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.42;MQ0=0;OQ=2082.10;QD=14.98;RankSumP=0.0662475;SB=-583.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1780A>G;refseq.codonCoord=594;refseq.end=75760859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1910;refseq.name=NM_003203;refseq.name2=C2orf3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T594A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-33;refseq.start=75760859;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr2 75768543 . C T 427.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=98.92;MQ0=0;OQ=4645.94;QD=41.86;RankSumP=1.00000;SB=-1461.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1608G>A;refseq.codonCoord=536;refseq.end=75768543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_003203;refseq.name2=C2orf3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V536V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=69;refseq.start=75768543;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr2 75776921 . T C 440.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.56;MQ0=0;OQ=6424.64;QD=41.99;RankSumP=1.00000;SB=-2431.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.746A>G;refseq.codonCoord=249;refseq.end=75776921;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_003203;refseq.name2=C2orf3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N249S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=29;refseq.start=75776921;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr2 79107769 . T C 315.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=354;Dels=0.00;HRun=0;HaplotypeScore=5.67;MQ=87.75;MQ0=1;OQ=14391.88;QD=40.66;RankSumP=1.00000;SB=-4896.97;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.297T>C;refseq.codingCoordStr_2=c.297T>C;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=79107769;refseq.end_2=79107769;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=482;refseq.mrnaCoord_2=382;refseq.name2_1=REG3G;refseq.name2_2=REG3G;refseq.name_1=NM_001008387;refseq.name_2=NM_198448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y99Y;refseq.proteinCoordStr_2=p.Y99Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=79107769;refseq.start_2=79107769;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr2 79990301 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.561017;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.926G>A;refseq.codingCoordStr_2=c.926G>A;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=79990301;refseq.end_2=79990301;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1205;refseq.mrnaCoord_2=1205;refseq.name2_1=CTNNA2;refseq.name2_2=CTNNA2;refseq.name_1=NM_001164883;refseq.name_2=NM_004389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S309N;refseq.proteinCoordStr_2=p.S309N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=79990301;refseq.start_2=79990301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr2 79990302 . C G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.508570;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.927C>G;refseq.codingCoordStr_2=c.927C>G;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=79990302;refseq.end_2=79990302;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1206;refseq.mrnaCoord_2=1206;refseq.name2_1=CTNNA2;refseq.name2_2=CTNNA2;refseq.name_1=NM_001164883;refseq.name_2=NM_004389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S309R;refseq.proteinCoordStr_2=p.S309R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=79990302;refseq.start_2=79990302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 1/0 chr2 79990304 . G T 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.545255;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.929G>T;refseq.codingCoordStr_2=c.929G>T;refseq.codonCoord_1=310;refseq.codonCoord_2=310;refseq.end_1=79990304;refseq.end_2=79990304;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1208;refseq.mrnaCoord_2=1208;refseq.name2_1=CTNNA2;refseq.name2_2=CTNNA2;refseq.name_1=NM_001164883;refseq.name_2=NM_004389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S310I;refseq.proteinCoordStr_2=p.S310I;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=79990304;refseq.start_2=79990304;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr2 79990310 . T G 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=0;RankSumP=0.452413;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.935T>G;refseq.codingCoordStr_2=c.935T>G;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=79990310;refseq.end_2=79990310;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1214;refseq.mrnaCoord_2=1214;refseq.name2_1=CTNNA2;refseq.name2_2=CTNNA2;refseq.name_1=NM_001164883;refseq.name_2=NM_004389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I312S;refseq.proteinCoordStr_2=p.I312S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=79990310;refseq.start_2=79990310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=soap GT 1/0 chr2 80384232 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_3=c.224A>C;refseq.codonCoord_3=75;refseq.end_1=80473836;refseq.end_2=80473836;refseq.end_3=80384232;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=494;refseq.name2_1=CTNNA2;refseq.name2_2=CTNNA2;refseq.name2_3=LRRTM1;refseq.name_1=NM_001164883;refseq.name_2=NM_004389;refseq.name_3=NM_178839;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.N75T;refseq.referenceAA_3=Asn;refseq.referenceCodon_3=AAC;refseq.spliceDist_3=283;refseq.start_1=79990445;refseq.start_2=79990445;refseq.start_3=80384232;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr2 84654116 . C A 312.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=98.76;MQ0=0;OQ=11406.73;QD=39.47;RankSumP=1.00000;SB=-5300.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1818C>A;refseq.codonCoord=606;refseq.end=84654116;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1955;refseq.name=NM_001370;refseq.name2=DNAH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A606A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=15;refseq.start=84654116;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr2 85424736 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1430A>G;refseq.codonCoord=477;refseq.end=85424736;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_017750;refseq.name2=RETSAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E477G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=64;refseq.start=85424736;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 85424739 . G C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=53;Dels=0.00;HRun=2;HaplotypeScore=4.54;MQ=92.03;MQ0=0;OQ=142.20;QD=2.68;RankSumP=0.000915358;SB=41.16;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1427C>G;refseq.codonCoord=476;refseq.end=85424739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_017750;refseq.name2=RETSAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A476G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=61;refseq.start=85424739;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 85475570 . T C 411.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=4058.56;QD=37.58;RankSumP=1.00000;SB=-1960.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1004A>G;refseq.codonCoord=335;refseq.end=85475570;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1254;refseq.name=NM_001747;refseq.name2=CAPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H335R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=23;refseq.start=85475570;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr2 85478733 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=3;HaplotypeScore=1.95;MQ=98.94;MQ0=0;OQ=5542.67;QD=18.29;RankSumP=0.495905;SB=-1437.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.813A>C;refseq.codonCoord=271;refseq.end=85478733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1063;refseq.name=NM_001747;refseq.name2=CAPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P271P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=54;refseq.start=85478733;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr2 85482538 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=85482538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_001747;refseq.name2=CAPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=54;refseq.start=85482538;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 85623222 . C G 248.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=2.50;MQ=98.27;MQ0=0;OQ=5557.88;QD=17.99;RankSumP=0.445872;SB=-1850.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.792C>G;refseq.codonCoord=264;refseq.end=85623222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_005911;refseq.name2=MAT2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R264R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=24;refseq.start=85623222;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr2 85623249 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.819T>G;refseq.codonCoord=273;refseq.end=85623249;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_005911;refseq.name2=MAT2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G273G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=51;refseq.start=85623249;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 85624342 . C T 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.727398;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1124C>T;refseq.codonCoord=375;refseq.end=85624342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1247;refseq.name=NM_005911;refseq.name2=MAT2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A375V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=39;refseq.start=85624342;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr2 85633642 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=14.59;MQ=98.63;MQ0=0;OQ=4563.44;QD=23.40;RankSumP=0.489022;SB=-1530.58;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1218C>T;refseq.codingCoordStr_2=c.1047C>T;refseq.codonCoord_1=406;refseq.codonCoord_2=349;refseq.end_1=85633642;refseq.end_2=85633642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1153;refseq.name2_1=GGCX;refseq.name2_2=GGCX;refseq.name_1=NM_000821;refseq.name_2=NM_001142269;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R406R;refseq.proteinCoordStr_2=p.R349R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=85633642;refseq.start_2=85633642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr2 85634047 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=98.56;MQ0=0;OQ=1844.63;QD=18.26;RankSumP=0.131091;SB=-508.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.974G>A;refseq.codingCoordStr_2=c.803G>A;refseq.codonCoord_1=325;refseq.codonCoord_2=268;refseq.end_1=85634047;refseq.end_2=85634047;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1080;refseq.mrnaCoord_2=909;refseq.name2_1=GGCX;refseq.name2_2=GGCX;refseq.name_1=NM_000821;refseq.name_2=NM_001142269;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R325Q;refseq.proteinCoordStr_2=p.R268Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=85634047;refseq.start_2=85634047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr2 85634829 . T G 279.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=6.40;MQ=98.64;MQ0=0;OQ=13831.48;QD=41.17;RankSumP=1.00000;SB=-5099.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.837A>C;refseq.codingCoordStr_2=c.666A>C;refseq.codonCoord_1=279;refseq.codonCoord_2=222;refseq.end_1=85634829;refseq.end_2=85634829;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=943;refseq.mrnaCoord_2=772;refseq.name2_1=GGCX;refseq.name2_2=GGCX;refseq.name_1=NM_000821;refseq.name_2=NM_001142269;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G279G;refseq.proteinCoordStr_2=p.G222G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=85634829;refseq.start_2=85634829;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr2 85659777 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.22;MQ0=0;OQ=789.32;QD=9.63;RankSumP=0.320847;SB=-378.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.138C>T;refseq.codonCoord=46;refseq.end=85659777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_003761;refseq.name2=VAMP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N46N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-25;refseq.start=85659777;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr2 85662248 . A G 225.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.84;MQ0=0;OQ=4172.63;QD=18.63;RankSumP=0.274565;SB=-1317.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.201A>G;refseq.codonCoord=67;refseq.end=85662248;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_003761;refseq.name2=VAMP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R67R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=39;refseq.start=85662248;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr2 85672397 . C T 122.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.94;MQ0=0;OQ=1272.95;QD=12.36;RankSumP=0.471681;SB=-536.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.42C>T;refseq.codonCoord=14;refseq.end=85672397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_006634;refseq.name2=VAMP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N14N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=39;refseq.start=85672397;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr2 85677550 . G A 213.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.92;MQ0=0;OQ=1811.38;QD=16.32;RankSumP=0.244666;SB=-453.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.312G>A;refseq.codonCoord=104;refseq.end=85677550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_016494;refseq.name2=RNF181;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-16;refseq.start=85677550;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 85680232 . G A 268.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.36;MQ0=0;OQ=2181.00;QD=16.40;RankSumP=0.00807535;SB=-719.92;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.501C>T;refseq.codonCoord_2=167;refseq.end_1=85680232;refseq.end_2=85680232;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=642;refseq.mrnaCoord_2=710;refseq.name2_1=TMEM150A;refseq.name2_2=TMEM150A;refseq.name_1=NR_033179;refseq.name_2=NM_001031738;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T167T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=85680232;refseq.start_2=85680232;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=filterInsoap-gatk GT 1/0 chr2 85747252 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.40;MQ=98.23;MQ0=0;OQ=726.38;QD=13.71;RankSumP=0.669265;SB=-117.61;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.428C>T;refseq.codingCoordStr_2=c.428C>T;refseq.codonCoord_1=143;refseq.codonCoord_2=143;refseq.end_1=85747252;refseq.end_2=85747252;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=528;refseq.mrnaCoord_2=528;refseq.name2_1=SFTPB;refseq.name2_2=SFTPB;refseq.name_1=NM_000542;refseq.name_2=NM_198843;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T143I;refseq.proteinCoordStr_2=p.T143I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=85747252;refseq.start_2=85747252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr2 85778240 . C T 168.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=11.85;MQ=98.91;MQ0=0;OQ=4996.48;QD=40.95;RankSumP=1.00000;SB=-2057.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.356C>T;refseq.codingCoordStr_2=c.311C>T;refseq.codonCoord_1=119;refseq.codonCoord_2=104;refseq.end_1=85778240;refseq.end_2=85778240;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=728;refseq.name2_1=GNLY;refseq.name2_2=GNLY;refseq.name_1=NM_006433;refseq.name_2=NM_012483;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T119I;refseq.proteinCoordStr_2=p.T104I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=85778240;refseq.start_2=85778240;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 85835272 . T C 44.56 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=14.85;RankSumP=1.00000;SB=-48.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.449T>C;refseq.codonCoord=150;refseq.end=85835272;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_032827;refseq.name2=ATOH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L150P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-320;refseq.start=85835272;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr2 85941822 . T C 282.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.95;MQ0=0;OQ=3233.06;QD=16.25;RankSumP=0.282298;SB=-864.34;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.242A>G;refseq.codingCoordStr_2=c.311A>G;refseq.codonCoord_1=81;refseq.codonCoord_2=104;refseq.end_1=85941822;refseq.end_2=85941822;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=295;refseq.mrnaCoord_2=440;refseq.name2_1=ST3GAL5;refseq.name2_2=ST3GAL5;refseq.name_1=NM_001042437;refseq.name_2=NM_003896;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H81R;refseq.proteinCoordStr_2=p.H104R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=85941822;refseq.start_2=85941822;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr2 86108619 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4962C>A;refseq.codonCoord=1654;refseq.end=86108619;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5341;refseq.name=NM_015425;refseq.name2=POLR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1654*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=65;refseq.start=86108619;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr2 86112954 . C T 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=596;Dels=0.00;HRun=0;HaplotypeScore=37.10;MQ=98.65;MQ0=0;OQ=16810.98;QD=28.21;RankSumP=1.00000;SB=-2691.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4224G>A;refseq.codonCoord=1408;refseq.end=86112954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4603;refseq.name=NM_015425;refseq.name2=POLR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1408G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-49;refseq.start=86112954;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr2 86125937 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2944A>C;refseq.codonCoord=982;refseq.end=86125937;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3323;refseq.name=NM_015425;refseq.name2=POLR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T982P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-26;refseq.start=86125937;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 86169252 . C T 364.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.32;MQ0=0;OQ=9222.68;QD=40.81;RankSumP=1.00000;SB=-3934.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.678G>A;refseq.codonCoord=226;refseq.end=86169252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_015425;refseq.name2=POLR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T226T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=52;refseq.start=86169252;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 86170548 . G C 78.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=3694.92;QD=49.93;RankSumP=1.00000;SB=-1023.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.448C>G;refseq.codonCoord=150;refseq.end=86170548;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_015425;refseq.name2=POLR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P150A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=16;refseq.start=86170548;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 86191754 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.202G>T;refseq.codonCoord=68;refseq.end=86191754;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_017952;refseq.name2=PTCD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V68L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=86191754;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr2 86216585 . A G 206.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=13.62;MQ=98.75;MQ0=0;OQ=9135.20;QD=37.29;RankSumP=1.00000;SB=-3530.23;SecondBestBaseQ=34;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=86217144;refseq.end_2=86216585;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=82;refseq.name2_1=PTCD3;refseq.name2_2=SNORD94;refseq.name_1=NM_017952;refseq.name_2=NR_004378;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-56;refseq.start_1=86215632;refseq.start_2=86216585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr2 86286751 . C T 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=538;Dels=0.00;HRun=0;HaplotypeScore=18.33;MQ=96.92;MQ0=0;OQ=21867.86;QD=40.65;RankSumP=1.00000;SB=-7282.01;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.55C>T;refseq.codingCoordStr_2=c.55C>T;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=86286751;refseq.end_2=86286751;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=113;refseq.mrnaCoord_2=113;refseq.name2_1=MRPL35;refseq.name2_2=MRPL35;refseq.name_1=NM_016622;refseq.name_2=NM_145644;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P19S;refseq.proteinCoordStr_2=p.P19S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=86286751;refseq.start_2=86286751;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr2 86537153 . A G 261.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.86;MQ0=0;OQ=6181.81;QD=42.34;RankSumP=1.00000;SB=-1441.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.634A>G;refseq.codingCoordStr_2=c.634A>G;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=86537153;refseq.end_2=86537153;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=961;refseq.name2_1=KDM3A;refseq.name2_2=KDM3A;refseq.name_1=NM_001146688;refseq.name_2=NM_018433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I212V;refseq.proteinCoordStr_2=p.I212V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=86537153;refseq.start_2=86537153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr2 86544761 . G A 133.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.84;MQ0=0;OQ=13572.36;QD=42.82;RankSumP=1.00000;SB=-6364.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.918G>A;refseq.codingCoordStr_2=c.918G>A;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.end_1=86544761;refseq.end_2=86544761;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=976;refseq.mrnaCoord_2=1245;refseq.name2_1=KDM3A;refseq.name2_2=KDM3A;refseq.name_1=NM_001146688;refseq.name_2=NM_018433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A306A;refseq.proteinCoordStr_2=p.A306A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=86544761;refseq.start_2=86544761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr2 86591094 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.108T>G;refseq.codingCoordStr_2=c.306T>G;refseq.codonCoord_1=36;refseq.codonCoord_2=102;refseq.end_1=86591094;refseq.end_2=86591094;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=374;refseq.mrnaCoord_2=435;refseq.name2_1=VPS24;refseq.name2_2=VPS24;refseq.name_1=NM_001005753;refseq.name_2=NM_016079;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G36G;refseq.proteinCoordStr_2=p.G102G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=86591094;refseq.start_2=86591094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 86684525 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2010G>C;refseq.codonCoord=670;refseq.end=86684525;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2979;refseq.name=NM_005667;refseq.name2=RNF103;refseq.positionType=CDS;refseq.proteinCoordStr=p.K670N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-499;refseq.start=86684525;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr2 86832604 . G A 228.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=8.38;MQ=99.00;MQ0=0;OQ=4108.60;QD=17.63;RankSumP=0.330036;SB=-1500.78;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.360G>A;refseq.codonCoord=120;refseq.end=86832604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_022780;refseq.name2=RMND5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E120E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-61;refseq.start=86832604;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 86922942 . C T 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.386853;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_4=c.632G>A;refseq.codingCoordStr_5=c.690G>A;refseq.codonCoord_4=211;refseq.codonCoord_5=230;refseq.end_1=86925545;refseq.end_2=86925545;refseq.end_3=86925545;refseq.end_4=86922942;refseq.end_5=86922942;refseq.frame_4=1;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=682;refseq.mrnaCoord_5=740;refseq.name2_1=CD8B;refseq.name2_2=CD8B;refseq.name2_3=CD8B;refseq.name2_4=CD8B;refseq.name2_5=CD8B;refseq.name_1=NM_172102;refseq.name_2=NM_172213;refseq.name_3=NM_172101;refseq.name_4=NM_004931;refseq.name_5=NM_172099;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.*211*;refseq.proteinCoordStr_5=p.M230I;refseq.referenceAA_4=Stop;refseq.referenceAA_5=Met;refseq.referenceCodon_4=TGA;refseq.referenceCodon_5=ATG;refseq.spliceDist_4=12;refseq.spliceDist_5=70;refseq.start_1=86896363;refseq.start_2=86896363;refseq.start_3=86903019;refseq.start_4=86922942;refseq.start_5=86922942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Stop;refseq.variantAA_5=Ile;refseq.variantCodon_4=TAA;refseq.variantCodon_5=ATA;set=soap GT 0/1 chr2 87096956 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.450873;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.272C>T;refseq.codingCoordStr_2=c.272C>T;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=87096956;refseq.end_2=87096956;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=335;refseq.mrnaCoord_2=339;refseq.name2_1=PLGLB1;refseq.name2_2=PLGLB2;refseq.name_1=NM_001032392;refseq.name_2=NM_002665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A91V;refseq.proteinCoordStr_2=p.A91V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=87096956;refseq.start_2=87096956;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=soap GT 1/0 chr2 87096989 . C T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.000190567;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.239G>A;refseq.codingCoordStr_2=c.239G>A;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.end_1=87096989;refseq.end_2=87096989;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=306;refseq.name2_1=PLGLB1;refseq.name2_2=PLGLB2;refseq.name_1=NM_001032392;refseq.name_2=NM_002665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R80K;refseq.proteinCoordStr_2=p.R80K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=87096989;refseq.start_2=87096989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 0/1 chr2 87097012 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.273354;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.216A>G;refseq.codingCoordStr_2=c.216A>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=87097012;refseq.end_2=87097012;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=279;refseq.mrnaCoord_2=283;refseq.name2_1=PLGLB1;refseq.name2_2=PLGLB2;refseq.name_1=NM_001032392;refseq.name_2=NM_002665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q72Q;refseq.proteinCoordStr_2=p.Q72Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=87097012;refseq.start_2=87097012;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 1/0 chr2 87098210 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.333224;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.162A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=87098210;refseq.end_2=87098210;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=225;refseq.mrnaCoord_2=229;refseq.name2_1=PLGLB1;refseq.name2_2=PLGLB2;refseq.name_1=NM_001032392;refseq.name_2=NM_002665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E54E;refseq.proteinCoordStr_2=p.E54E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=87098210;refseq.start_2=87098210;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 1/0 chr2 87834192 . A G 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.216A>G;refseq.codingCoordStr_2=c.216A>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=87834192;refseq.end_2=87834192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=279;refseq.mrnaCoord_2=283;refseq.name2_1=PLGLB1;refseq.name2_2=PLGLB2;refseq.name_1=NM_001032392;refseq.name_2=NM_002665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q72Q;refseq.proteinCoordStr_2=p.Q72Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=87834192;refseq.start_2=87834192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 1/1 chr2 87855706 . A T 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.702399;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4888T>A;refseq.codingCoordStr_2=c.4912T>A;refseq.codonCoord_1=1630;refseq.codonCoord_2=1638;refseq.end_1=87855706;refseq.end_2=87855706;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4904;refseq.mrnaCoord_2=4950;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W1630R;refseq.proteinCoordStr_2=p.W1638R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=87855706;refseq.start_2=87855706;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 0/1 chr2 87862780 . G A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4854C>T;refseq.codingCoordStr_2=c.4878C>T;refseq.codonCoord_1=1618;refseq.codonCoord_2=1626;refseq.end_1=87862780;refseq.end_2=87862780;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4870;refseq.mrnaCoord_2=4916;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1618Y;refseq.proteinCoordStr_2=p.Y1626Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=87862780;refseq.start_2=87862780;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=FilteredInAll GT 1/1 chr2 87864304 . T C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.714241;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3330A>G;refseq.codingCoordStr_2=c.3354A>G;refseq.codonCoord_1=1110;refseq.codonCoord_2=1118;refseq.end_1=87864304;refseq.end_2=87864304;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3346;refseq.mrnaCoord_2=3392;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1110S;refseq.proteinCoordStr_2=p.S1118S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=678;refseq.spliceDist_2=678;refseq.start_1=87864304;refseq.start_2=87864304;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=FilteredInAll GT 1/0 chr2 87864759 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.684867;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2875G>C;refseq.codingCoordStr_2=c.2899G>C;refseq.codonCoord_1=959;refseq.codonCoord_2=967;refseq.end_1=87864759;refseq.end_2=87864759;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2891;refseq.mrnaCoord_2=2937;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V959L;refseq.proteinCoordStr_2=p.V967L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=223;refseq.spliceDist_2=223;refseq.start_1=87864759;refseq.start_2=87864759;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=soap GT 1/0 chr2 87864812 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.432264;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2822A>G;refseq.codingCoordStr_2=c.2846A>G;refseq.codonCoord_1=941;refseq.codonCoord_2=949;refseq.end_1=87864812;refseq.end_2=87864812;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2838;refseq.mrnaCoord_2=2884;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N941S;refseq.proteinCoordStr_2=p.N949S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=170;refseq.spliceDist_2=170;refseq.start_1=87864812;refseq.start_2=87864812;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 1/0 chr2 87864851 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.235094;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2783A>G;refseq.codingCoordStr_2=c.2807A>G;refseq.codonCoord_1=928;refseq.codonCoord_2=936;refseq.end_1=87864851;refseq.end_2=87864851;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2799;refseq.mrnaCoord_2=2845;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D928G;refseq.proteinCoordStr_2=p.D936G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=131;refseq.spliceDist_2=131;refseq.start_1=87864851;refseq.start_2=87864851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 1/0 chr2 87864876 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.436228;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2758A>G;refseq.codingCoordStr_2=c.2782A>G;refseq.codonCoord_1=920;refseq.codonCoord_2=928;refseq.end_1=87864876;refseq.end_2=87864876;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2774;refseq.mrnaCoord_2=2820;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K920E;refseq.proteinCoordStr_2=p.K928E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=87864876;refseq.start_2=87864876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr2 87864899 . G A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2735C>T;refseq.codingCoordStr_2=c.2759C>T;refseq.codonCoord_1=912;refseq.codonCoord_2=920;refseq.end_1=87864899;refseq.end_2=87864899;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2751;refseq.mrnaCoord_2=2797;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S912L;refseq.proteinCoordStr_2=p.S920L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=87864899;refseq.start_2=87864899;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=soap GT 1/0 chr2 87864964 . T C 16 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2670A>G;refseq.codingCoordStr_2=c.2694A>G;refseq.codonCoord_1=890;refseq.codonCoord_2=898;refseq.end_1=87864964;refseq.end_2=87864964;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2686;refseq.mrnaCoord_2=2732;refseq.name2_1=RGPD1;refseq.name2_2=RGPD2;refseq.name_1=NM_001024457;refseq.name_2=NM_001078170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E890E;refseq.proteinCoordStr_2=p.E898E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=87864964;refseq.start_2=87864964;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT 1/1 chr2 88168672 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.34;MQ0=0;OQ=343.81;QD=11.09;RankSumP=0.0672465;SB=-182.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.491A>C;refseq.codonCoord=164;refseq.end=88168672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q164P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-38;refseq.start=88168672;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr2 88177235 rs2919882 G A 0.45 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=98.50;MQ0=0;OQ=264.62;QD=7.78;SB=-60.01;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.705G>A;refseq.codonCoord=235;refseq.end=88177235;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E235E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=88177235;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=gatk GT:AD:DP:GL:GQ 0/1:25,9:34:-39.98,-10.24,-105.38:99 chr2 88177238 rs2970912 C G 7.29 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=98.52;MQ0=0;OQ=328.20;QD=9.12;SB=-72.82;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.708C>G;refseq.codonCoord=236;refseq.end=88177238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L236L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=88177238;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:27,9:36:-46.94,-10.84,-132.12:99 chr2 88177289 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=614.71;QD=12.05;RankSumP=0.504683;SB=-147.62;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.759T>C;refseq.codonCoord=253;refseq.end=88177289;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I253I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=61;refseq.start=88177289;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr2 88189074 . T C 216.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=11.86;MQ=98.79;MQ0=0;OQ=5604.69;QD=16.73;RankSumP=0.410463;SB=-2137.01;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1215T>C;refseq.codonCoord=405;refseq.end=88189074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1217;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H405H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=70;refseq.start=88189074;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 88191099 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.48;MQ0=0;OQ=1435.90;QD=19.40;RankSumP=0.248817;SB=-419.16;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1426G>A;refseq.codonCoord=476;refseq.end=88191099;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_198274;refseq.name2=SMYD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E476K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=112;refseq.start=88191099;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 88253906 . G A 451.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=4891.18;QD=41.10;RankSumP=1.00000;SB=-1816.07;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.122G>A;refseq.codonCoord=41;refseq.end=88253906;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_018271;refseq.name2=THNSL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G41E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-102;refseq.start=88253906;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 88609877 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.313A>C;refseq.codonCoord=105;refseq.end=88609877;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_152670;refseq.name2=C2orf51;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=193;refseq.start=88609877;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 88609894 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=293;Dels=0.00;HRun=2;HaplotypeScore=13.85;MQ=98.07;MQ0=0;OQ=5924.50;QD=20.22;RankSumP=0.000398114;SB=-1586.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.330T>C;refseq.codonCoord=110;refseq.end=88609894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_152670;refseq.name2=C2orf51;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y110Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=210;refseq.start=88609894;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 1/0 chr2 88656006 . C A 198.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=10.10;MQ=98.97;MQ0=0;OQ=4657.84;QD=36.97;RankSumP=1.00000;SB=-1225.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2110G>T;refseq.codonCoord=704;refseq.end=88656006;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2412;refseq.name=NM_004836;refseq.name2=EIF2AK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A704S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=74;refseq.start=88656006;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr2 88660246 . T C 376.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.04;MQ0=0;OQ=6689.41;QD=42.34;RankSumP=1.00000;SB=-970.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1791A>G;refseq.codonCoord=597;refseq.end=88660246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2093;refseq.name=NM_004836;refseq.name2=EIF2AK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q597Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=28;refseq.start=88660246;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 88676238 . T C 378.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.89;MQ0=0;OQ=8300.30;QD=38.79;RankSumP=1.00000;SB=-3874.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.497A>G;refseq.codonCoord=166;refseq.end=88676238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=799;refseq.name=NM_004836;refseq.name2=EIF2AK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q166R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=59;refseq.start=88676238;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr2 94901295 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=97.62;MQ0=0;OQ=1250.92;QD=17.62;RankSumP=0.326783;SB=2.02;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.244C>T;refseq.codonCoord=82;refseq.end=94901295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R82C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-255;refseq.start=94901295;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr2 94901299 . C T 173.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=97.53;MQ0=0;OQ=1194.17;QD=17.82;RankSumP=0.353505;SB=-37.54;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.248C>T;refseq.codonCoord=83;refseq.end=94901299;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T83M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-251;refseq.start=94901299;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr2 94901349 . A G 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=3.27;MQ=99.00;MQ0=0;OQ=216.66;QD=6.19;RankSumP=0.583770;SB=-85.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.298A>G;refseq.codonCoord=100;refseq.end=94901349;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=391;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S100G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-201;refseq.start=94901349;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr2 94906145 . T C 28.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=199;Dels=0.00;HRun=0;HaplotypeScore=42.74;MQ=88.22;MQ0=15;QD=0.14;RankSumP=0.0722072;SB=41.14;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1212T>C;refseq.codonCoord=404;refseq.end=94906145;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I404I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=121;refseq.start=94906145;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/0 chr2 94906146 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=44.57;MQ=88.30;MQ0=15;OQ=101.45;QD=0.50;RankSumP=0.0178136;SB=18.55;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1213G>A;refseq.codonCoord=405;refseq.end=94906146;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A405T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=122;refseq.start=94906146;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/0 chr2 94906203 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.168748;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1270C>T;refseq.codonCoord=424;refseq.end=94906203;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_144705;refseq.name2=TEKT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R424C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-93;refseq.start=94906203;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 0/1 chr2 95182703 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.23T>G;refseq.codonCoord=8;refseq.end=95182703;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_032788;refseq.name2=ZNF514;refseq.positionType=CDS;refseq.proteinCoordStr=p.V8G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=95182703;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 95210774 . G A 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.0711082;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.348G>A;refseq.codingCoordStr_2=c.474G>A;refseq.codonCoord_1=116;refseq.codonCoord_2=158;refseq.end_1=95210774;refseq.end_2=95210774;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=864;refseq.mrnaCoord_2=936;refseq.name2_1=ZNF2;refseq.name2_2=ZNF2;refseq.name_1=NM_001017396;refseq.name_2=NM_021088;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R116R;refseq.proteinCoordStr_2=p.R158R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=200;refseq.spliceDist_2=200;refseq.start_1=95210774;refseq.start_2=95210774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=soap GT 1/0 chr2 95309321 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1276T>G;refseq.codingCoordStr_2=c.1276T>G;refseq.codingCoordStr_3=c.1276T>G;refseq.codonCoord_1=426;refseq.codonCoord_2=426;refseq.codonCoord_3=426;refseq.end_1=95309321;refseq.end_2=95309321;refseq.end_3=95309321;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1409;refseq.mrnaCoord_2=1409;refseq.mrnaCoord_3=1409;refseq.name2_1=PROM2;refseq.name2_2=PROM2;refseq.name2_3=PROM2;refseq.name_1=NM_001165977;refseq.name_2=NM_001165978;refseq.name_3=NM_144707;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.W426G;refseq.proteinCoordStr_2=p.W426G;refseq.proteinCoordStr_3=p.W426G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=95309321;refseq.start_2=95309321;refseq.start_3=95309321;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr2 95310812 . A G 117.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.50;MQ=98.43;MQ0=0;OQ=2336.06;QD=35.39;RankSumP=1.00000;SB=-440.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1523A>G;refseq.codingCoordStr_2=c.1523A>G;refseq.codingCoordStr_3=c.1523A>G;refseq.codonCoord_1=508;refseq.codonCoord_2=508;refseq.codonCoord_3=508;refseq.end_1=95310812;refseq.end_2=95310812;refseq.end_3=95310812;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1656;refseq.mrnaCoord_2=1656;refseq.mrnaCoord_3=1656;refseq.name2_1=PROM2;refseq.name2_2=PROM2;refseq.name2_3=PROM2;refseq.name_1=NM_001165977;refseq.name_2=NM_001165978;refseq.name_3=NM_144707;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q508R;refseq.proteinCoordStr_2=p.Q508R;refseq.proteinCoordStr_3=p.Q508R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=95310812;refseq.start_2=95310812;refseq.start_3=95310812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr2 95623543 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.128157;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=95623543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.C15C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=49;refseq.start=95623543;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr2 95623683 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=4;RankSumP=0.00606061;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.185T>A;refseq.codonCoord=62;refseq.end=95623683;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.M62K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=189;refseq.start=95623683;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr2 95623877 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.379C>T;refseq.codonCoord=127;refseq.end=95623877;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.H127Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-33;refseq.start=95623877;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/1 chr2 95624616 . G T 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.285714;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.503G>T;refseq.codonCoord=168;refseq.end=95624616;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.W168L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=95624616;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap GT 0/1 chr2 95625680 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.510828;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.511A>G;refseq.codonCoord=171;refseq.end=95625680;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.N171D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=95625680;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr2 95625814 . T C 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.607992;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.645T>C;refseq.codonCoord=215;refseq.end=95625814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.S215S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-94;refseq.start=95625814;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 1/0 chr2 95625847 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.480608;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.678G>A;refseq.codonCoord=226;refseq.end=95625847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.L226L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-61;refseq.start=95625847;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap GT 1/0 chr2 95625892 . T G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.571429;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.723T>G;refseq.codonCoord=241;refseq.end=95625892;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.D241E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-16;refseq.start=95625892;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr2 95627362 . T C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.769T>C;refseq.codonCoord=257;refseq.end=95627362;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=905;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.S257P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=95627362;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/1 chr2 95628585 . T G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.321671;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.878T>G;refseq.codonCoord=293;refseq.end=95628585;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.F293C;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=19;refseq.start=95628585;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr2 95628773 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.485122;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1066A>G;refseq.codonCoord=356;refseq.end=95628773;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_138800;refseq.name2=TRIM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.N356D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=207;refseq.start=95628773;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 0/1 chr2 96053433 . G T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.540909;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1861C>A;refseq.codonCoord=621;refseq.end=96053433;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2084;refseq.name=NM_207328;refseq.name2=GPAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R621R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-36;refseq.start=96053433;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chr2 96153514 . T C 157.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=99.00;MQ0=0;OQ=1488.19;QD=16.91;RankSumP=0.301026;SB=-552.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1098A>G;refseq.codonCoord=366;refseq.end=96153514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_001002036;refseq.name2=ASTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L366L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-199;refseq.start=96153514;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 96159335 . T G 176.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=7.97;MQ=97.53;MQ0=0;OQ=2710.01;QD=17.60;RankSumP=0.167236;SB=-950.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.829A>C;refseq.codonCoord=277;refseq.end=96159335;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_001002036;refseq.name2=ASTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K277Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-46;refseq.start=96159335;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr2 96159441 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.23;MQ0=0;OQ=739.95;QD=13.45;RankSumP=0.587853;SB=-159.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=96159441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_001002036;refseq.name2=ASTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L241L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=96159441;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr2 96159584 . T C 180.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=446;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=98.81;MQ0=0;OQ=7914.60;QD=17.75;RankSumP=0.222122;SB=-2523.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.665A>G;refseq.codonCoord=222;refseq.end=96159584;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_001002036;refseq.name2=ASTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q222R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=28;refseq.start=96159584;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr2 96162032 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=98.81;MQ0=0;OQ=1349.49;QD=11.94;RankSumP=0.339947;SB=-464.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.611G>A;refseq.codonCoord=204;refseq.end=96162032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_001002036;refseq.name2=ASTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R204H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-27;refseq.start=96162032;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr2 96297139 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.01548e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.338G>T;refseq.codonCoord=113;refseq.end=96297139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_004804;refseq.name2=CIAO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W113L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=50;refseq.start=96297139;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr2 96307160 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=117;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=95.73;MQ0=0;OQ=2424.57;QD=20.72;RankSumP=0.498761;SB=-846.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5775C>G;refseq.codonCoord=1925;refseq.end=96307160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5897;refseq.name=NM_014014;refseq.name2=SNRNP200;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1925A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=21;refseq.start=96307160;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr2 96318581 . T C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=86;Dels=0.00;HRun=2;HaplotypeScore=5.71;MQ=97.94;MQ0=0;OQ=114.13;QD=1.33;RankSumP=0.00000;SB=92.34;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3095A>G;refseq.codonCoord=1032;refseq.end=96318581;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3217;refseq.name=NM_014014;refseq.name2=SNRNP200;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1032G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=96318581;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 96741396 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_5=c.634A>C;refseq.codingCoordStr_6=c.601A>C;refseq.codonCoord_5=212;refseq.codonCoord_6=201;refseq.end_1=96741396;refseq.end_2=96741396;refseq.end_3=96741396;refseq.end_4=96741396;refseq.end_5=96741396;refseq.end_6=96741396;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=587;refseq.mrnaCoord_2=551;refseq.mrnaCoord_3=518;refseq.mrnaCoord_4=435;refseq.mrnaCoord_5=670;refseq.mrnaCoord_6=637;refseq.name2_1=LMAN2L;refseq.name2_2=LMAN2L;refseq.name2_3=LMAN2L;refseq.name2_4=LMAN2L;refseq.name2_5=LMAN2L;refseq.name2_6=LMAN2L;refseq.name_1=NR_024518;refseq.name_2=NR_024519;refseq.name_3=NR_024520;refseq.name_4=NR_024521;refseq.name_5=NM_001142292;refseq.name_6=NM_030805;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.T212P;refseq.proteinCoordStr_6=p.T201P;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.spliceDist_3=-69;refseq.spliceDist_4=-69;refseq.spliceDist_5=-69;refseq.spliceDist_6=-69;refseq.start_1=96741396;refseq.start_2=96741396;refseq.start_3=96741396;refseq.start_4=96741396;refseq.start_5=96741396;refseq.start_6=96741396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;set=FilteredInAll GT 1/0 chr2 96828631 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1792G>C;refseq.codonCoord=598;refseq.end=96828631;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1890;refseq.name=NM_020184;refseq.name2=CNNM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A598P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-60;refseq.start=96828631;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 96845786 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.0833333;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.45C>T;refseq.codingCoordStr_2=c.45C>T;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=96845786;refseq.end_2=96845786;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=69;refseq.mrnaCoord_2=69;refseq.name2_1=CNNM3;refseq.name2_2=CNNM3;refseq.name_1=NM_017623;refseq.name_2=NM_199078;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F15F;refseq.proteinCoordStr_2=p.F15F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=96845786;refseq.start_2=96845786;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr2 96858600 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2059+2;refseq.codingCoordStr_2=c.1915+2;refseq.end_1=96858600;refseq.end_2=96858600;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CNNM3;refseq.name2_2=CNNM3;refseq.name_1=NM_017623;refseq.name_2=NM_199078;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=96858600;refseq.start_2=96858600;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr2 96869904 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.501T>G;refseq.codonCoord=167;refseq.end=96869904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_144994;refseq.name2=ANKRD23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G167G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-25;refseq.start=96869904;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 97115229 . G C 56 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00127425;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.619C>G;refseq.codonCoord=207;refseq.end=97115229;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_199336;refseq.name2=FAHD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L207V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-67;refseq.start=97115229;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr2 97147862 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.531359;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.367A>G;refseq.codonCoord=123;refseq.end=97147862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_001164315;refseq.name2=ANKRD36;refseq.positionType=CDS;refseq.proteinCoordStr=p.N123D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=55;refseq.start=97147862;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr2 97147880 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.692304;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.385T>G;refseq.codonCoord=129;refseq.end=97147880;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_001164315;refseq.name2=ANKRD36;refseq.positionType=CDS;refseq.proteinCoordStr=p.F129V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=73;refseq.start=97147880;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr2 97640959 . G C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=4;HaplotypeScore=2.44;MQ=97.71;MQ0=0;OQ=3888.36;QD=47.42;RankSumP=1.00000;SB=-1933.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.804C>G;refseq.codonCoord=268;refseq.end=97640959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_005735;refseq.name2=ACTR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V268V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=54;refseq.start=97640959;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr2 98145830 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1073T>G;refseq.codonCoord=358;refseq.end=98145830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V358G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-42;refseq.start=98145830;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 98163993 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1197G>T;refseq.codonCoord=399;refseq.end=98163993;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L399F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=83;refseq.start=98163993;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr2 98211106 . C G 86.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.73;MQ0=0;OQ=15618.83;QD=49.43;RankSumP=1.00000;SB=-6169.43;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2029C>G;refseq.codonCoord=677;refseq.end=98211106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2293;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L677V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=98211106;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr2 98219605 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=900;Dels=0.00;HRun=0;HaplotypeScore=49.51;MQ=97.49;MQ0=0;OQ=31955.05;QD=35.51;RankSumP=1.00000;SB=-11693.16;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2653G>A;refseq.codonCoord=885;refseq.end=98219605;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2917;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V885M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-21;refseq.start=98219605;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/1 chr2 98286646 . C T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.348677;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3470C>T;refseq.codonCoord=1157;refseq.end=98286646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3734;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1157V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=50;refseq.start=98286646;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr2 98294926 . G A 86.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=96.19;MQ0=0;OQ=1018.99;QD=31.84;RankSumP=1.00000;SB=-407.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3734G>A;refseq.codonCoord=1245;refseq.end=98294926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3998;refseq.name=NM_144992;refseq.name2=VWA3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1245K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=98294926;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr2 98374806 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.560T>G;refseq.codingCoordStr_2=c.614T>G;refseq.codonCoord_1=187;refseq.codonCoord_2=205;refseq.end_1=98374806;refseq.end_2=98374806;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=977;refseq.mrnaCoord_2=1031;refseq.name2_1=CNGA3;refseq.name2_2=CNGA3;refseq.name_1=NM_001079878;refseq.name_2=NM_001298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V187G;refseq.proteinCoordStr_2=p.V205G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=98374806;refseq.start_2=98374806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr2 99145417 . T C 74.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.79;MQ0=0;OQ=16440.92;QD=41.62;RankSumP=1.00000;SB=-7611.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.565T>C;refseq.codingCoordStr_2=c.565T>C;refseq.codingCoordStr_3=c.565T>C;refseq.codingCoordStr_4=c.565T>C;refseq.codingCoordStr_5=c.565T>C;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.codonCoord_3=189;refseq.codonCoord_4=189;refseq.codonCoord_5=189;refseq.end_1=99145417;refseq.end_2=99145417;refseq.end_3=99145417;refseq.end_4=99145417;refseq.end_5=99145417;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=789;refseq.mrnaCoord_2=726;refseq.mrnaCoord_3=917;refseq.mrnaCoord_4=905;refseq.mrnaCoord_5=663;refseq.name2_1=LIPT1;refseq.name2_2=LIPT1;refseq.name2_3=LIPT1;refseq.name2_4=LIPT1;refseq.name2_5=LIPT1;refseq.name_1=NM_015929;refseq.name_2=NM_145196;refseq.name_3=NM_145197;refseq.name_4=NM_145198;refseq.name_5=NM_145199;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L189L;refseq.proteinCoordStr_2=p.L189L;refseq.proteinCoordStr_3=p.L189L;refseq.proteinCoordStr_4=p.L189L;refseq.proteinCoordStr_5=p.L189L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.spliceDist_1=566;refseq.spliceDist_2=566;refseq.spliceDist_3=566;refseq.spliceDist_4=566;refseq.spliceDist_5=566;refseq.start_1=99145417;refseq.start_2=99145417;refseq.start_3=99145417;refseq.start_4=99145417;refseq.start_5=99145417;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;set=Intersection GT 1/1 chr2 99145563 . T C 308.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=99.00;MQ0=0;OQ=10538.15;QD=42.32;RankSumP=1.00000;SB=-4100.66;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.711T>C;refseq.codingCoordStr_2=c.711T>C;refseq.codingCoordStr_3=c.711T>C;refseq.codingCoordStr_4=c.711T>C;refseq.codingCoordStr_5=c.711T>C;refseq.codonCoord_1=237;refseq.codonCoord_2=237;refseq.codonCoord_3=237;refseq.codonCoord_4=237;refseq.codonCoord_5=237;refseq.end_1=99145563;refseq.end_2=99145563;refseq.end_3=99145563;refseq.end_4=99145563;refseq.end_5=99145563;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=935;refseq.mrnaCoord_2=872;refseq.mrnaCoord_3=1063;refseq.mrnaCoord_4=1051;refseq.mrnaCoord_5=809;refseq.name2_1=LIPT1;refseq.name2_2=LIPT1;refseq.name2_3=LIPT1;refseq.name2_4=LIPT1;refseq.name2_5=LIPT1;refseq.name_1=NM_015929;refseq.name_2=NM_145196;refseq.name_3=NM_145197;refseq.name_4=NM_145198;refseq.name_5=NM_145199;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A237A;refseq.proteinCoordStr_2=p.A237A;refseq.proteinCoordStr_3=p.A237A;refseq.proteinCoordStr_4=p.A237A;refseq.proteinCoordStr_5=p.A237A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=-483;refseq.spliceDist_2=-483;refseq.spliceDist_3=-483;refseq.spliceDist_4=-483;refseq.spliceDist_5=-483;refseq.start_1=99145563;refseq.start_2=99145563;refseq.start_3=99145563;refseq.start_4=99145563;refseq.start_5=99145563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/1 chr2 99169108 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=99169108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_145212;refseq.name2=MRPL30;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=37;refseq.start=99169108;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr2 99171074 . T C 275.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2496.46;QD=39.63;RankSumP=1.00000;SB=-745.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.54T>C;refseq.codonCoord=18;refseq.end=99171074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_145212;refseq.name2=MRPL30;refseq.positionType=CDS;refseq.proteinCoordStr=p.T18T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=99171074;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr2 99178502 . G A 200.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=83.95;MQ0=11;OQ=2576.55;QD=34.82;RankSumP=1.00000;SB=-1004.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.388G>A;refseq.codonCoord=130;refseq.end=99178502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_145212;refseq.name2=MRPL30;refseq.positionType=CDS;refseq.proteinCoordStr=p.A130T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=35;refseq.start=99178502;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 99375945 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2832T>G;refseq.codonCoord=944;refseq.end=99375945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3016;refseq.name=NM_015904;refseq.name2=EIF5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G944G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-49;refseq.start=99375945;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 99417327 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1337T>G;refseq.codingCoordStr_2=c.1337T>G;refseq.codonCoord_1=446;refseq.codonCoord_2=446;refseq.end_1=99417327;refseq.end_2=99417327;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1549;refseq.mrnaCoord_2=1549;refseq.name2_1=REV1;refseq.name2_2=REV1;refseq.name_1=NM_001037872;refseq.name_2=NM_016316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V446G;refseq.proteinCoordStr_2=p.V446G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=99417327;refseq.start_2=99417327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr2 99576506 . G C 17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=6.29;MQ=95.68;MQ0=0;OQ=65.79;QD=3.29;RankSumP=0.137461;SB=-3.99;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2124C>G;refseq.codingCoordStr_2=c.2049C>G;refseq.codonCoord_1=708;refseq.codonCoord_2=683;refseq.end_1=99576506;refseq.end_2=99576506;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2268;refseq.mrnaCoord_2=2285;refseq.name2_1=AFF3;refseq.name2_2=AFF3;refseq.name_1=NM_001025108;refseq.name_2=NM_002285;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S708S;refseq.proteinCoordStr_2=p.S683S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-418;refseq.spliceDist_2=-418;refseq.start_1=99576506;refseq.start_2=99576506;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=filterInsoap-gatk GT 0/1 chr2 99577074 . T C 367 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=7.65;MQ=98.64;MQ0=0;OQ=6090.75;QD=19.71;RankSumP=0.473440;SB=-1813.75;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1556A>G;refseq.codingCoordStr_2=c.1481A>G;refseq.codonCoord_1=519;refseq.codonCoord_2=494;refseq.end_1=99577074;refseq.end_2=99577074;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1700;refseq.mrnaCoord_2=1717;refseq.name2_1=AFF3;refseq.name2_2=AFF3;refseq.name_1=NM_001025108;refseq.name_2=NM_002285;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N519S;refseq.proteinCoordStr_2=p.N494S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.start_1=99577074;refseq.start_2=99577074;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr2 99584512 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.69;MQ0=0;OQ=832.88;QD=14.36;RankSumP=0.462186;SB=-255.73;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1263C>T;refseq.codingCoordStr_2=c.1188C>T;refseq.codonCoord_1=421;refseq.codonCoord_2=396;refseq.end_1=99584512;refseq.end_2=99584512;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1407;refseq.mrnaCoord_2=1424;refseq.name2_1=AFF3;refseq.name2_2=AFF3;refseq.name_1=NM_001025108;refseq.name_2=NM_002285;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A421A;refseq.proteinCoordStr_2=p.A396A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=99584512;refseq.start_2=99584512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr2 99709989 . C T 316.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.24;MQ0=0;OQ=4944.42;QD=41.90;RankSumP=1.00000;SB=-2232.80;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1148G>A;refseq.codingCoordStr_2=c.1073G>A;refseq.codonCoord_1=383;refseq.codonCoord_2=358;refseq.end_1=99709989;refseq.end_2=99709989;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=1309;refseq.name2_1=AFF3;refseq.name2_2=AFF3;refseq.name_1=NM_001025108;refseq.name_2=NM_002285;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S383N;refseq.proteinCoordStr_2=p.S358N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=99709989;refseq.start_2=99709989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr2 99989802 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.672A>C;refseq.codingCoordStr_2=c.597A>C;refseq.codonCoord_1=224;refseq.codonCoord_2=199;refseq.end_1=99989802;refseq.end_2=99989802;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=816;refseq.mrnaCoord_2=833;refseq.name2_1=AFF3;refseq.name2_2=AFF3;refseq.name_1=NM_001025108;refseq.name_2=NM_002285;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P224P;refseq.proteinCoordStr_2=p.P199P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.start_1=99989802;refseq.start_2=99989802;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr2 100463392 . C T 141.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=6.05;MQ=98.70;MQ0=0;OQ=2472.45;QD=12.74;RankSumP=0.187729;SB=-1192.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.339C>T;refseq.codonCoord=113;refseq.end=100463392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_001011717;refseq.name2=NMS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=100463392;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr2 100947007 . G A 245.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.97;MQ0=0;OQ=11316.31;QD=41.00;RankSumP=1.00000;SB=-3926.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.654G>A;refseq.codonCoord=218;refseq.end=100947007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_002518;refseq.name2=NPAS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V218V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=56;refseq.start=100947007;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr2 100957736 . A G 247.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=98.93;MQ0=0;OQ=8080.61;QD=37.94;RankSumP=1.00000;SB=-2204.48;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1180A>G;refseq.codonCoord=394;refseq.end=100957736;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1466;refseq.name=NM_002518;refseq.name2=NPAS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T394A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=40;refseq.start=100957736;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr2 100960623 . C T 86.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=10.05;MQ=98.58;MQ0=0;OQ=10325.24;QD=36.88;RankSumP=1.00000;SB=-3171.36;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1412C>T;refseq.codonCoord=471;refseq.end=100960623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1698;refseq.name=NM_002518;refseq.name2=NPAS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S471L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=20;refseq.start=100960623;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 101264844 . G C 186.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.63;MQ0=0;OQ=7201.05;QD=22.93;RankSumP=0.368279;SB=-998.03;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1068C>G;refseq.codonCoord=356;refseq.end=101264844;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_173647;refseq.name2=RNF149;refseq.positionType=CDS;refseq.proteinCoordStr=p.D356E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-92;refseq.start=101264844;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr2 101291458 . T C 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=95.28;MQ0=0;OQ=408.71;QD=22.71;RankSumP=1.00000;SB=-179.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.25A>G;refseq.codonCoord=9;refseq.end=101291458;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_173647;refseq.name2=RNF149;refseq.positionType=CDS;refseq.proteinCoordStr=p.S9G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=153;refseq.start=101291458;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 102148083 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.373C>A;refseq.codonCoord=125;refseq.end=102148083;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_000877;refseq.name2=IL1R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q125K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=77;refseq.start=102148083;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr2 102159600 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1659A>C;refseq.codonCoord=553;refseq.end=102159600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1741;refseq.name=NM_000877;refseq.name2=IL1R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S553S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=356;refseq.start=102159600;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr2 102208899 . T C 294.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=5.17;MQ=98.76;MQ0=0;OQ=11176.34;QD=38.14;RankSumP=1.00000;SB=-4529.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1101T>C;refseq.codonCoord=367;refseq.end=102208899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1227;refseq.name=NM_003854;refseq.name2=IL1RL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y367Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-35;refseq.start=102208899;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 102218140 . T C 205.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=7.72;MQ=98.37;MQ0=0;OQ=5040.22;QD=35.25;RankSumP=1.00000;SB=-2185.62;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1649T>C;refseq.codonCoord=550;refseq.end=102218140;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1775;refseq.name=NM_003854;refseq.name2=IL1RL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L550P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-30;refseq.start=102218140;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 102367834 . C T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=3.32;MQ=98.85;MQ0=0;OQ=10567.51;QD=42.78;RankSumP=1.00000;SB=-2947.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.753C>T;refseq.codonCoord=251;refseq.end=102367834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_003855;refseq.name2=IL18R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F251F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-57;refseq.start=102367834;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr2 102461836 . G A 92.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=18.13;MQ=98.48;MQ0=0;OQ=12207.41;QD=34.98;RankSumP=1.00000;SB=-5224.59;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.363G>A;refseq.codonCoord=121;refseq.end=102461836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_001011552;refseq.name2=SLC9A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S121S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=107;refseq.start=102461836;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr2 102488310 . C G 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.484062;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1146C>G;refseq.codonCoord=382;refseq.end=102488310;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1603;refseq.name=NM_001011552;refseq.name2=SLC9A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N382K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-53;refseq.start=102488310;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 1/0 chr2 102515532 . G A 427.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=5654.74;QD=42.20;RankSumP=1.00000;SB=-2212.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2350G>A;refseq.codonCoord=784;refseq.end=102515532;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2807;refseq.name=NM_001011552;refseq.name2=SLC9A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G784S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=312;refseq.start=102515532;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr2 102780843 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.421G>C;refseq.codonCoord=141;refseq.end=102780843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_144632;refseq.name2=TMEM182;refseq.positionType=CDS;refseq.proteinCoordStr=p.A141P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-49;refseq.start=102780843;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 102797836 . T C 422.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.89;MQ0=0;OQ=4500.56;QD=36.59;RankSumP=1.00000;SB=-1455.56;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.667T>C;refseq.codonCoord=223;refseq.end=102797836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_144632;refseq.name2=TMEM182;refseq.positionType=CDS;refseq.proteinCoordStr=p.W223R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=198;refseq.start=102797836;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 105075455 . T C 150.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.74;MQ0=0;OQ=2507.35;QD=13.27;RankSumP=0.00927908;SB=-969.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.816T>C;refseq.codonCoord=272;refseq.end=105075455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=884;refseq.name=NM_182640;refseq.name2=MRPS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S272S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=105075455;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr2 105252393 . T C 100.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=97.10;MQ0=0;OQ=484.75;QD=12.76;RankSumP=0.681928;SB=-166.30;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2174A>G;refseq.codingCoordStr_2=c.2174A>G;refseq.codonCoord_1=725;refseq.codonCoord_2=725;refseq.end_1=105252393;refseq.end_2=105252393;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2255;refseq.mrnaCoord_2=2258;refseq.name2_1=TGFBRAP1;refseq.name2_2=TGFBRAP1;refseq.name_1=NM_001142621;refseq.name_2=NM_004257;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H725R;refseq.proteinCoordStr_2=p.H725R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=202;refseq.spliceDist_2=202;refseq.start_1=105252393;refseq.start_2=105252393;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr2 105281560 . G A 217.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=98.45;MQ0=0;OQ=2594.77;QD=14.10;RankSumP=0.0265261;SB=-825.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.723C>T;refseq.codingCoordStr_2=c.723C>T;refseq.codonCoord_1=241;refseq.codonCoord_2=241;refseq.end_1=105281560;refseq.end_2=105281560;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=807;refseq.name2_1=TGFBRAP1;refseq.name2_2=TGFBRAP1;refseq.name_1=NM_001142621;refseq.name_2=NM_004257;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R241R;refseq.proteinCoordStr_2=p.R241R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=105281560;refseq.start_2=105281560;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr2 105290942 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.82;MQ0=0;OQ=1141.47;QD=11.30;RankSumP=0.0303162;SB=-465.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.249T>C;refseq.codingCoordStr_2=c.249T>C;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=105290942;refseq.end_2=105290942;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=330;refseq.mrnaCoord_2=333;refseq.name2_1=TGFBRAP1;refseq.name2_2=TGFBRAP1;refseq.name_1=NM_001142621;refseq.name_2=NM_004257;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R83R;refseq.proteinCoordStr_2=p.R83R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=263;refseq.spliceDist_2=266;refseq.start_1=105290942;refseq.start_2=105290942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr2 106789620 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=516;Dels=0.00;HRun=0;HaplotypeScore=14.47;MQ=98.82;MQ0=0;OQ=12781.51;QD=24.77;RankSumP=0.422829;SB=-4607.53;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1536C>T;refseq.codingCoordStr_2=c.1536C>T;refseq.codonCoord_1=512;refseq.codonCoord_2=512;refseq.end_1=106789620;refseq.end_2=106789620;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1655;refseq.mrnaCoord_2=1725;refseq.name2_1=ST6GAL2;refseq.name2_2=ST6GAL2;refseq.name_1=NM_001142351;refseq.name_2=NM_032528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P512P;refseq.proteinCoordStr_2=p.P512P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=218;refseq.spliceDist_2=218;refseq.start_1=106789620;refseq.start_2=106789620;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr2 106789827 . T G 206.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.28;MQ0=0;OQ=1584.89;QD=14.41;RankSumP=0.416913;SB=-555.76;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1329A>C;refseq.codingCoordStr_2=c.1329A>C;refseq.codonCoord_1=443;refseq.codonCoord_2=443;refseq.end_1=106789827;refseq.end_2=106789827;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1448;refseq.mrnaCoord_2=1518;refseq.name2_1=ST6GAL2;refseq.name2_2=ST6GAL2;refseq.name_1=NM_001142351;refseq.name_2=NM_032528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I443I;refseq.proteinCoordStr_2=p.I443I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=106789827;refseq.start_2=106789827;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr2 106816957 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1837.46;QD=11.70;RankSumP=0.448214;SB=-624.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1021A>G;refseq.codingCoordStr_2=c.1021A>G;refseq.codingCoordStr_3=c.1021A>G;refseq.codonCoord_1=341;refseq.codonCoord_2=341;refseq.codonCoord_3=341;refseq.end_1=106816957;refseq.end_2=106816957;refseq.end_3=106816957;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1140;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1210;refseq.name2_1=ST6GAL2;refseq.name2_2=ST6GAL2;refseq.name2_3=ST6GAL2;refseq.name_1=NM_001142351;refseq.name_2=NM_001142352;refseq.name_3=NM_032528;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I341V;refseq.proteinCoordStr_2=p.I341V;refseq.proteinCoordStr_3=p.I341V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=106816957;refseq.start_2=106816957;refseq.start_3=106816957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr2 106817021 . C T 160.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=99.00;MQ0=0;OQ=1756.10;QD=13.72;RankSumP=0.131115;SB=-531.42;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.957G>A;refseq.codingCoordStr_2=c.957G>A;refseq.codingCoordStr_3=c.957G>A;refseq.codonCoord_1=319;refseq.codonCoord_2=319;refseq.codonCoord_3=319;refseq.end_1=106817021;refseq.end_2=106817021;refseq.end_3=106817021;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=1146;refseq.mrnaCoord_3=1146;refseq.name2_1=ST6GAL2;refseq.name2_2=ST6GAL2;refseq.name2_3=ST6GAL2;refseq.name_1=NM_001142351;refseq.name_2=NM_001142352;refseq.name_3=NM_032528;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A319A;refseq.proteinCoordStr_2=p.A319A;refseq.proteinCoordStr_3=p.A319A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=106817021;refseq.start_2=106817021;refseq.start_3=106817021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr2 107975080 . A G 207.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1897.43;QD=19.36;RankSumP=0.262095;SB=-472.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.265A>G;refseq.codonCoord=89;refseq.end=107975080;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_021815;refseq.name2=SLC5A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I89V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-28;refseq.start=107975080;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr2 108230082 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=5683.41;QD=41.79;RankSumP=1.00000;SB=-1457.21;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 108230199 . A C 453.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=98.84;MQ0=0;OQ=5543.23;QD=41.06;RankSumP=1.00000;SB=-2543.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.117A>C;refseq.codonCoord=39;refseq.end=108230199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_001008743;refseq.name2=SULT1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V39V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-56;refseq.start=108230199;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 108466004 . C G 152.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=5845.64;QD=47.14;RankSumP=1.00000;SB=-2840.91;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.3400C>G;refseq.codonCoord_2=1134;refseq.end_1=108466004;refseq.end_2=108466004;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3469;refseq.mrnaCoord_2=3554;refseq.name2_1=GCC2;refseq.name2_2=GCC2;refseq.name_1=NR_028063;refseq.name_2=NM_181453;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q1134E;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=108466004;refseq.start_2=108466004;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr2 108482528 . C T 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.4870C>T;refseq.codonCoord_2=1624;refseq.end_1=108482528;refseq.end_2=108482528;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4939;refseq.mrnaCoord_2=5024;refseq.name2_1=GCC2;refseq.name2_2=GCC2;refseq.name_1=NR_028063;refseq.name_2=NM_181453;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L1624L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=108482528;refseq.start_2=108482528;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=FilteredInAll GT 1/1 chr2 108482570 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.4912C>A;refseq.codonCoord_2=1638;refseq.end_1=108482570;refseq.end_2=108482570;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4981;refseq.mrnaCoord_2=5066;refseq.name2_1=GCC2;refseq.name2_2=GCC2;refseq.name_1=NR_028063;refseq.name_2=NM_181453;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L1638I;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=108482570;refseq.start_2=108482570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=FilteredInAll GT 1/1 chr2 108642653 . G T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=563;Dels=0.00;HRun=1;HaplotypeScore=19.18;MQ=13.00;MQ0=407;OQ=2047.25;QD=3.64;RankSumP=0.676622;SB=-999.30;SecondBestBaseQ=31;refseq.chr=chr2;refseq.codingCoordStr=c.156+1;refseq.end=108642653;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_004987;refseq.name2=LIMS1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=108642653;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr2 108734172 . G A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1294G>A;refseq.codonCoord=432;refseq.end=108734172;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_006267;refseq.name2=RANBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G432S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=21;refseq.start=108734172;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/0 chr2 108741384 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=845;Dels=0.00;HRun=1;HaplotypeScore=16.41;MQ=27.64;MQ0=180;OQ=1432.88;QD=1.70;RankSumP=0.344600;SB=-620.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2550A>G;refseq.codonCoord=850;refseq.end=108741384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_006267;refseq.name2=RANBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S850S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-53;refseq.start=108741384;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr2 108755895 . G A 246.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=4110.03;QD=44.19;RankSumP=1.00000;SB=-1569.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.8253G>A;refseq.codonCoord=2751;refseq.end=108755895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8379;refseq.name=NM_006267;refseq.name2=RANBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2751E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-40;refseq.start=108755895;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr2 108774640 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.01;HRun=1;HaplotypeScore=7.98;MQ=98.90;MQ0=0;OQ=4071.73;QD=23.13;RankSumP=0.218950;SB=-1046.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.344G>A;refseq.codonCoord=115;refseq.end=108774640;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_144978;refseq.name2=CCDC138;refseq.positionType=CDS;refseq.proteinCoordStr=p.R115K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-51;refseq.start=108774640;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr2 108795578 . T A 284.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=10.25;MQ=98.79;MQ0=0;OQ=6602.34;QD=22.92;RankSumP=0.107300;SB=-2692.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.915T>A;refseq.codonCoord=305;refseq.end=108795578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=975;refseq.name=NM_144978;refseq.name2=CCDC138;refseq.positionType=CDS;refseq.proteinCoordStr=p.A305A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-19;refseq.start=108795578;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr2 108880086 . G A 369.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=98.53;MQ0=0;OQ=6457.57;QD=39.38;RankSumP=1.00000;SB=-2392.42;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1056C>T;refseq.codonCoord=352;refseq.end=108880086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1487;refseq.name=NM_022336;refseq.name2=EDAR;refseq.positionType=CDS;refseq.proteinCoordStr=p.C352C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=32;refseq.start=108880086;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr2 108893401 . G A 234 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.27;MQ0=0;OQ=5492.21;QD=42.25;RankSumP=1.00000;SB=-2173.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.750C>T;refseq.codonCoord=250;refseq.end=108893401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_022336;refseq.name2=EDAR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S250S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=20;refseq.start=108893401;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr2 109667982 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1132G>A;refseq.codingCoordStr_2=c.1063G>A;refseq.codonCoord_1=378;refseq.codonCoord_2=355;refseq.end_1=109667982;refseq.end_2=109667982;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1511;refseq.mrnaCoord_2=1442;refseq.name2_1=SEPT10;refseq.name2_2=SEPT10;refseq.name_1=NM_144710;refseq.name_2=NM_178584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E378K;refseq.proteinCoordStr_2=p.E355K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=109667982;refseq.start_2=109667982;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr2 109679243 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1017C>A;refseq.codingCoordStr_2=c.948C>A;refseq.codonCoord_1=339;refseq.codonCoord_2=316;refseq.end_1=109679243;refseq.end_2=109679243;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1327;refseq.name2_1=SEPT10;refseq.name2_2=SEPT10;refseq.name_1=NM_144710;refseq.name_2=NM_178584;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N339K;refseq.proteinCoordStr_2=p.N316K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=109679243;refseq.start_2=109679243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr2 109923665 . A G 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.665562;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.686A>G;refseq.codingCoordStr_2=c.686A>G;refseq.codingCoordStr_3=c.686A>G;refseq.codingCoordStr_4=c.686A>G;refseq.codingCoordStr_5=c.686A>G;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.codonCoord_3=229;refseq.codonCoord_4=229;refseq.codonCoord_5=229;refseq.end_1=109923665;refseq.end_2=109923665;refseq.end_3=109923665;refseq.end_4=109923665;refseq.end_5=109923665;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1219;refseq.mrnaCoord_2=1219;refseq.mrnaCoord_3=878;refseq.mrnaCoord_4=763;refseq.mrnaCoord_5=1219;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q229R;refseq.proteinCoordStr_2=p.Q229R;refseq.proteinCoordStr_3=p.Q229R;refseq.proteinCoordStr_4=p.Q229R;refseq.proteinCoordStr_5=p.Q229R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.spliceDist_5=50;refseq.start_1=109923665;refseq.start_2=109923665;refseq.start_3=109923665;refseq.start_4=109923665;refseq.start_5=109923665;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;refseq.variantCodon_4=CGA;refseq.variantCodon_5=CGA;set=soap GT 0/1 chr2 109939202 rs3960693 G A 48.25 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=12.96;MQ=2.01;MQ0=413;QD=0.12;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1391G>A;refseq.codingCoordStr_2=c.1391G>A;refseq.codingCoordStr_3=c.1391G>A;refseq.codingCoordStr_4=c.1391G>A;refseq.codingCoordStr_5=c.1391G>A;refseq.codonCoord_1=464;refseq.codonCoord_2=464;refseq.codonCoord_3=464;refseq.codonCoord_4=464;refseq.codonCoord_5=464;refseq.end_1=109939202;refseq.end_2=109939202;refseq.end_3=109939202;refseq.end_4=109939202;refseq.end_5=109939202;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1924;refseq.mrnaCoord_2=1924;refseq.mrnaCoord_3=1583;refseq.mrnaCoord_4=1468;refseq.mrnaCoord_5=1924;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R464H;refseq.proteinCoordStr_2=p.R464H;refseq.proteinCoordStr_3=p.R464H;refseq.proteinCoordStr_4=p.R464H;refseq.proteinCoordStr_5=p.R464H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.referenceCodon_5=CGT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.spliceDist_4=-68;refseq.spliceDist_5=-68;refseq.start_1=109939202;refseq.start_2=109939202;refseq.start_3=109939202;refseq.start_4=109939202;refseq.start_5=109939202;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;refseq.variantCodon_5=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:310,105:2:-8.23,-0.60,-0.00:6.02 chr2 109942656 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.633333;SecondBestBaseQ=34;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.2203-2;refseq.codingCoordStr_2=c.2203-2;refseq.codingCoordStr_3=c.2203-2;refseq.codingCoordStr_4=c.2203-2;refseq.codingCoordStr_5=c.2203-2;refseq.end_1=109942656;refseq.end_2=109942656;refseq.end_3=109942656;refseq.end_4=109942656;refseq.end_5=109942656;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceDist_5=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.spliceInfo_3=splice-acceptor_-2;refseq.spliceInfo_4=splice-acceptor_-2;refseq.spliceInfo_5=splice-acceptor_-2;refseq.start_1=109942656;refseq.start_2=109942656;refseq.start_3=109942656;refseq.start_4=109942656;refseq.start_5=109942656;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;set=FilteredInAll GT 0/1 chr2 109942795 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.507962;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.2340G>A;refseq.codingCoordStr_2=c.2340G>A;refseq.codingCoordStr_3=c.2340G>A;refseq.codingCoordStr_4=c.2340G>A;refseq.codingCoordStr_5=c.2340G>A;refseq.codonCoord_1=780;refseq.codonCoord_2=780;refseq.codonCoord_3=780;refseq.codonCoord_4=780;refseq.codonCoord_5=780;refseq.end_1=109942795;refseq.end_2=109942795;refseq.end_3=109942795;refseq.end_4=109942795;refseq.end_5=109942795;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2873;refseq.mrnaCoord_2=2873;refseq.mrnaCoord_3=2532;refseq.mrnaCoord_4=2417;refseq.mrnaCoord_5=2873;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P780P;refseq.proteinCoordStr_2=p.P780P;refseq.proteinCoordStr_3=p.P780P;refseq.proteinCoordStr_4=p.P780P;refseq.proteinCoordStr_5=p.P780P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.spliceDist_5=-43;refseq.start_1=109942795;refseq.start_2=109942795;refseq.start_3=109942795;refseq.start_4=109942795;refseq.start_5=109942795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=soap GT 1/0 chr2 109942941 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.273692;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.2393A>G;refseq.codingCoordStr_2=c.2393A>G;refseq.codingCoordStr_3=c.2393A>G;refseq.codingCoordStr_4=c.2393A>G;refseq.codingCoordStr_5=c.2393A>G;refseq.codonCoord_1=798;refseq.codonCoord_2=798;refseq.codonCoord_3=798;refseq.codonCoord_4=798;refseq.codonCoord_5=798;refseq.end_1=109942941;refseq.end_2=109942941;refseq.end_3=109942941;refseq.end_4=109942941;refseq.end_5=109942941;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2926;refseq.mrnaCoord_2=2926;refseq.mrnaCoord_3=2585;refseq.mrnaCoord_4=2470;refseq.mrnaCoord_5=2926;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E798G;refseq.proteinCoordStr_2=p.E798G;refseq.proteinCoordStr_3=p.E798G;refseq.proteinCoordStr_4=p.E798G;refseq.proteinCoordStr_5=p.E798G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.spliceDist_5=11;refseq.start_1=109942941;refseq.start_2=109942941;refseq.start_3=109942941;refseq.start_4=109942941;refseq.start_5=109942941;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=soap GT 0/1 chr2 109946229 rs2340676 G C 12.86 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=1091;Dels=0.00;HRun=3;HaplotypeScore=32.24;MQ=0.82;MQ0=1090;QD=0.01;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.2513G>C;refseq.codingCoordStr_2=c.2513G>C;refseq.codingCoordStr_3=c.2513G>C;refseq.codingCoordStr_4=c.2513G>C;refseq.codingCoordStr_5=c.2513G>C;refseq.codonCoord_1=838;refseq.codonCoord_2=838;refseq.codonCoord_3=838;refseq.codonCoord_4=838;refseq.codonCoord_5=838;refseq.end_1=109946229;refseq.end_2=109946229;refseq.end_3=109946229;refseq.end_4=109946229;refseq.end_5=109946229;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3046;refseq.mrnaCoord_2=3046;refseq.mrnaCoord_3=2705;refseq.mrnaCoord_4=2590;refseq.mrnaCoord_5=3046;refseq.name2_1=RGPD6;refseq.name2_2=RGPD6;refseq.name2_3=RGPD8;refseq.name2_4=RGPD5;refseq.name2_5=RGPD5;refseq.name_1=NM_001037866;refseq.name_2=NM_001123363;refseq.name_3=NM_001164463;refseq.name_4=NM_005054;refseq.name_5=NM_032260;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R838P;refseq.proteinCoordStr_2=p.R838P;refseq.proteinCoordStr_3=p.R838P;refseq.proteinCoordStr_4=p.R838P;refseq.proteinCoordStr_5=p.R838P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.referenceCodon_5=CGT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.spliceDist_4=47;refseq.spliceDist_5=47;refseq.start_1=109946229;refseq.start_2=109946229;refseq.start_3=109946229;refseq.start_4=109946229;refseq.start_5=109946229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_5=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1078,13:1:-4.55,-0.30,-0.00:1.76 chr2 109950795 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.378462;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2808G>T;refseq.codingCoordStr_2=c.2808G>T;refseq.codingCoordStr_3=c.2808G>T;refseq.codonCoord_1=936;refseq.codonCoord_2=936;refseq.codonCoord_3=936;refseq.end_1=109950795;refseq.end_2=109950795;refseq.end_3=109950795;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3341;refseq.mrnaCoord_2=3000;refseq.mrnaCoord_3=2885;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R936S;refseq.proteinCoordStr_2=p.R936S;refseq.proteinCoordStr_3=p.R936S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=111;refseq.start_1=109950795;refseq.start_2=109950795;refseq.start_3=109950795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=soap GT 0/1 chr2 109950825 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.316345;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2838C>A;refseq.codingCoordStr_2=c.2838C>A;refseq.codingCoordStr_3=c.2838C>A;refseq.codonCoord_1=946;refseq.codonCoord_2=946;refseq.codonCoord_3=946;refseq.end_1=109950825;refseq.end_2=109950825;refseq.end_3=109950825;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3371;refseq.mrnaCoord_2=3030;refseq.mrnaCoord_3=2915;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F946L;refseq.proteinCoordStr_2=p.F946L;refseq.proteinCoordStr_3=p.F946L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.spliceDist_3=141;refseq.start_1=109950825;refseq.start_2=109950825;refseq.start_3=109950825;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=soap GT 1/0 chr2 109950843 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.314659;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2856T>G;refseq.codingCoordStr_2=c.2856T>G;refseq.codingCoordStr_3=c.2856T>G;refseq.codonCoord_1=952;refseq.codonCoord_2=952;refseq.codonCoord_3=952;refseq.end_1=109950843;refseq.end_2=109950843;refseq.end_3=109950843;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3389;refseq.mrnaCoord_2=3048;refseq.mrnaCoord_3=2933;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S952R;refseq.proteinCoordStr_2=p.S952R;refseq.proteinCoordStr_3=p.S952R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=159;refseq.spliceDist_2=159;refseq.spliceDist_3=159;refseq.start_1=109950843;refseq.start_2=109950843;refseq.start_3=109950843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=soap GT 1/0 chr2 109951118 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.414907;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3131C>G;refseq.codingCoordStr_2=c.3131C>G;refseq.codingCoordStr_3=c.3131C>G;refseq.codonCoord_1=1044;refseq.codonCoord_2=1044;refseq.codonCoord_3=1044;refseq.end_1=109951118;refseq.end_2=109951118;refseq.end_3=109951118;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3664;refseq.mrnaCoord_2=3323;refseq.mrnaCoord_3=3208;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1044R;refseq.proteinCoordStr_2=p.P1044R;refseq.proteinCoordStr_3=p.P1044R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=434;refseq.spliceDist_2=434;refseq.spliceDist_3=434;refseq.start_1=109951118;refseq.start_2=109951118;refseq.start_3=109951118;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=soap GT 1/0 chr2 109951286 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.0704033;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3299G>A;refseq.codingCoordStr_2=c.3299G>A;refseq.codingCoordStr_3=c.3299G>A;refseq.codonCoord_1=1100;refseq.codonCoord_2=1100;refseq.codonCoord_3=1100;refseq.end_1=109951286;refseq.end_2=109951286;refseq.end_3=109951286;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3832;refseq.mrnaCoord_2=3491;refseq.mrnaCoord_3=3376;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1100Q;refseq.proteinCoordStr_2=p.R1100Q;refseq.proteinCoordStr_3=p.R1100Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=602;refseq.spliceDist_2=602;refseq.spliceDist_3=602;refseq.start_1=109951286;refseq.start_2=109951286;refseq.start_3=109951286;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=FilteredInAll GT 1/0 chr2 109951401 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.297116;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3414C>T;refseq.codingCoordStr_2=c.3414C>T;refseq.codingCoordStr_3=c.3414C>T;refseq.codonCoord_1=1138;refseq.codonCoord_2=1138;refseq.codonCoord_3=1138;refseq.end_1=109951401;refseq.end_2=109951401;refseq.end_3=109951401;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3947;refseq.mrnaCoord_2=3606;refseq.mrnaCoord_3=3491;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D1138D;refseq.proteinCoordStr_2=p.D1138D;refseq.proteinCoordStr_3=p.D1138D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=717;refseq.spliceDist_2=717;refseq.spliceDist_3=717;refseq.start_1=109951401;refseq.start_2=109951401;refseq.start_3=109951401;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=FilteredInAll GT 0/1 chr2 109951667 . C T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.205128;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3680C>T;refseq.codingCoordStr_2=c.3680C>T;refseq.codingCoordStr_3=c.3680C>T;refseq.codonCoord_1=1227;refseq.codonCoord_2=1227;refseq.codonCoord_3=1227;refseq.end_1=109951667;refseq.end_2=109951667;refseq.end_3=109951667;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4213;refseq.mrnaCoord_2=3872;refseq.mrnaCoord_3=3757;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1227V;refseq.proteinCoordStr_2=p.A1227V;refseq.proteinCoordStr_3=p.A1227V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=983;refseq.spliceDist_2=983;refseq.spliceDist_3=983;refseq.start_1=109951667;refseq.start_2=109951667;refseq.start_3=109951667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr2 109951835 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.237351;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3848G>A;refseq.codingCoordStr_2=c.3848G>A;refseq.codingCoordStr_3=c.3848G>A;refseq.codonCoord_1=1283;refseq.codonCoord_2=1283;refseq.codonCoord_3=1283;refseq.end_1=109951835;refseq.end_2=109951835;refseq.end_3=109951835;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4381;refseq.mrnaCoord_2=4040;refseq.mrnaCoord_3=3925;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1283H;refseq.proteinCoordStr_2=p.R1283H;refseq.proteinCoordStr_3=p.R1283H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-1074;refseq.spliceDist_2=-1074;refseq.spliceDist_3=-1074;refseq.start_1=109951835;refseq.start_2=109951835;refseq.start_3=109951835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=soap GT 1/0 chr2 109951843 . G A 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.295410;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3856G>A;refseq.codingCoordStr_2=c.3856G>A;refseq.codingCoordStr_3=c.3856G>A;refseq.codonCoord_1=1286;refseq.codonCoord_2=1286;refseq.codonCoord_3=1286;refseq.end_1=109951843;refseq.end_2=109951843;refseq.end_3=109951843;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4389;refseq.mrnaCoord_2=4048;refseq.mrnaCoord_3=3933;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E1286K;refseq.proteinCoordStr_2=p.E1286K;refseq.proteinCoordStr_3=p.E1286K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-1066;refseq.spliceDist_2=-1066;refseq.spliceDist_3=-1066;refseq.start_1=109951843;refseq.start_2=109951843;refseq.start_3=109951843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=soap GT 1/0 chr2 109951952 . T A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.273810;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3965T>A;refseq.codingCoordStr_2=c.3965T>A;refseq.codingCoordStr_3=c.3965T>A;refseq.codonCoord_1=1322;refseq.codonCoord_2=1322;refseq.codonCoord_3=1322;refseq.end_1=109951952;refseq.end_2=109951952;refseq.end_3=109951952;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4498;refseq.mrnaCoord_2=4157;refseq.mrnaCoord_3=4042;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1322D;refseq.proteinCoordStr_2=p.V1322D;refseq.proteinCoordStr_3=p.V1322D;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-957;refseq.spliceDist_2=-957;refseq.spliceDist_3=-957;refseq.start_1=109951952;refseq.start_2=109951952;refseq.start_3=109951952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=soap GT 1/0 chr2 109952660 . T C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.571429;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4673T>C;refseq.codingCoordStr_2=c.4673T>C;refseq.codingCoordStr_3=c.4673T>C;refseq.codonCoord_1=1558;refseq.codonCoord_2=1558;refseq.codonCoord_3=1558;refseq.end_1=109952660;refseq.end_2=109952660;refseq.end_3=109952660;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5206;refseq.mrnaCoord_2=4865;refseq.mrnaCoord_3=4750;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1558A;refseq.proteinCoordStr_2=p.V1558A;refseq.proteinCoordStr_3=p.V1558A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-249;refseq.spliceDist_2=-249;refseq.spliceDist_3=-249;refseq.start_1=109952660;refseq.start_2=109952660;refseq.start_3=109952660;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=soap GT 1/0 chr2 109952695 . G A 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.400000;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4708G>A;refseq.codingCoordStr_2=c.4708G>A;refseq.codingCoordStr_3=c.4708G>A;refseq.codonCoord_1=1570;refseq.codonCoord_2=1570;refseq.codonCoord_3=1570;refseq.end_1=109952695;refseq.end_2=109952695;refseq.end_3=109952695;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5241;refseq.mrnaCoord_2=4900;refseq.mrnaCoord_3=4785;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1570R;refseq.proteinCoordStr_2=p.G1570R;refseq.proteinCoordStr_3=p.G1570R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.spliceDist_3=-214;refseq.start_1=109952695;refseq.start_2=109952695;refseq.start_3=109952695;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=soap GT 1/0 chr2 109970742 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.292876;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.5278G>C;refseq.codingCoordStr_2=c.5278G>C;refseq.codingCoordStr_3=c.5278G>C;refseq.codonCoord_1=1760;refseq.codonCoord_2=1760;refseq.codonCoord_3=1760;refseq.end_1=109970742;refseq.end_2=109970742;refseq.end_3=109970742;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5811;refseq.mrnaCoord_2=5470;refseq.mrnaCoord_3=5355;refseq.name2_1=RGPD6;refseq.name2_2=RGPD8;refseq.name2_3=RGPD5;refseq.name_1=NM_001123363;refseq.name_2=NM_001164463;refseq.name_3=NM_005054;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1760P;refseq.proteinCoordStr_2=p.A1760P;refseq.proteinCoordStr_3=p.A1760P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=109970742;refseq.start_2=109970742;refseq.start_3=109970742;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=soap GT 0/1 chr2 110020754 rs2916855 G A 44.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=2.61;MQ0=220;QD=0.20;SB=-10.00;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.351G>A;refseq.codonCoord_4=117;refseq.end_1=110036526;refseq.end_2=110029266;refseq.end_3=110029266;refseq.end_4=110020754;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=615;refseq.name2_1=LIMS3-LOC440895;refseq.name2_2=LIMS3-LOC440895;refseq.name2_3=LIMS3;refseq.name2_4=LIMS3;refseq.name_1=NR_027144;refseq.name_2=NR_027145;refseq.name_3=NR_027467;refseq.name_4=NM_033514;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.T117T;refseq.referenceAA_4=Thr;refseq.referenceCodon_4=ACG;refseq.spliceDist_4=9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=110018241;refseq.start_2=110018289;refseq.start_3=110018289;refseq.start_4=110020754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:152,70:2:-7.81,-0.60,-0.00:6.02 chr2 111315429 . C T 239.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1470.78;QD=19.61;RankSumP=0.282921;SB=-734.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.764C>T;refseq.codonCoord=255;refseq.end=111315429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_001142807;refseq.name2=ACOXL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T255M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=11;refseq.start=111315429;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr2 111566986 . C T 256.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=2142.81;QD=15.99;RankSumP=0.259664;SB=-820.69;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1514C>T;refseq.codonCoord=505;refseq.end=111566986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_001142807;refseq.name2=ACOXL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P505L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-29;refseq.start=111566986;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr2 111624162 . T C 415.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.89;MQ0=0;OQ=8940.80;QD=37.41;RankSumP=1.00000;SB=-3082.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.285T>C;refseq.codingCoordStr_2=c.465T>C;refseq.codonCoord_1=95;refseq.codonCoord_2=155;refseq.end_1=111624162;refseq.end_2=111624162;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=573;refseq.mrnaCoord_2=753;refseq.name2_1=BCL2L11;refseq.name2_2=BCL2L11;refseq.name_1=NM_006538;refseq.name_2=NM_138621;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I95I;refseq.proteinCoordStr_2=p.I155I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=111624162;refseq.start_2=111624162;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 112252735 . G T 30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=9.44;MQ0=255;OQ=1316.34;QD=4.18;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5373C>A;refseq.codonCoord=1791;refseq.end=112252735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5620;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1791I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-13;refseq.start=112252735;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr2 112252758 . G A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.442308;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.5350C>T;refseq.codonCoord=1784;refseq.end=112252758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5597;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1784S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-36;refseq.start=112252758;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr2 112259430 . G T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.800000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4895C>A;refseq.codonCoord=1632;refseq.end=112259430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5142;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1632D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-23;refseq.start=112259430;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr2 112266552 . C G 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4570G>C;refseq.codonCoord=1524;refseq.end=112266552;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4817;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1524P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=52;refseq.start=112266552;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr2 112268144 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.334361;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4500C>T;refseq.codonCoord=1500;refseq.end=112268144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4747;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1500S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-19;refseq.start=112268144;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr2 112268338 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.339700;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4407C>T;refseq.codonCoord=1469;refseq.end=112268338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4654;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1469C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=34;refseq.start=112268338;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr2 112299031 . A C 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.438633;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2795T>G;refseq.codonCoord=932;refseq.end=112299031;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3042;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V932G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-18;refseq.start=112299031;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr2 112299063 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.283448;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2763A>G;refseq.codonCoord=921;refseq.end=112299063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3010;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T921T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=22;refseq.start=112299063;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr2 112299197 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.198229;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2723T>C;refseq.codonCoord=908;refseq.end=112299197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2970;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V908A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=19;refseq.start=112299197;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 0/1 chr2 112299828 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.289556;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2701A>G;refseq.codonCoord=901;refseq.end=112299828;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2948;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I901V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=112299828;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 1/0 chr2 112299869 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.351719;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2660T>C;refseq.codonCoord=887;refseq.end=112299869;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2907;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L887S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=35;refseq.start=112299869;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 0/1 chr2 112305385 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.654941;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2574A>G;refseq.codonCoord=858;refseq.end=112305385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2821;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P858P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-52;refseq.start=112305385;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 1/0 chr2 112305397 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.605430;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2562T>C;refseq.codonCoord=854;refseq.end=112305397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2809;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G854G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-64;refseq.start=112305397;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr2 112308744 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=7;RankSumP=0.575081;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2292C>T;refseq.codonCoord=764;refseq.end=112308744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2539;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F764F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-93;refseq.start=112308744;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr2 112308883 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.386148;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2153A>G;refseq.codonCoord=718;refseq.end=112308883;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2400;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N718S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=38;refseq.start=112308883;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 1/0 chr2 112321773 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.419674;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1791G>A;refseq.codonCoord=597;refseq.end=112321773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2038;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L597L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=112321773;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap GT 0/1 chr2 112330887 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.409976;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1406G>A;refseq.codonCoord=469;refseq.end=112330887;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1653;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G469D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-44;refseq.start=112330887;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr2 112330900 . G A 0.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=263;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=26.64;MQ0=21;OQ=1746.07;QD=6.64;RankSumP=0.421800;SB=-736.53;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1393C>T;refseq.codonCoord=465;refseq.end=112330900;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q465*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=35;refseq.start=112330900;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=filterInsoap-gatk GT 1/0 chr2 112332359 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=247;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=94.13;MQ0=0;OQ=4078.43;QD=16.51;RankSumP=0.489155;SB=-1319.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1353G>C;refseq.codonCoord=451;refseq.end=112332359;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1600;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q451H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=112332359;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 112332404 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=300;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=92.49;MQ0=5;OQ=2010.55;QD=6.70;RankSumP=0.245963;SB=-844.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1308A>G;refseq.codonCoord=436;refseq.end=112332404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L436L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=46;refseq.start=112332404;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/0 chr2 112336452 . G A 3 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=13.91;MQ0=20;OQ=60.09;QD=2.15;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1247C>T;refseq.codonCoord=416;refseq.end=112336452;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T416M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-16;refseq.start=112336452;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/1 chr2 112336628 . C G 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.202165;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1071G>C;refseq.codonCoord=357;refseq.end=112336628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1318;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A357A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=19;refseq.start=112336628;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr2 112337816 . T C 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.712658;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.959A>G;refseq.codonCoord=320;refseq.end=112337816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q320R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-94;refseq.start=112337816;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr2 112337828 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.743559;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.947C>T;refseq.codonCoord=316;refseq.end=112337828;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T316I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-106;refseq.start=112337828;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr2 112337897 . T C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.214191;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.878A>G;refseq.codonCoord=293;refseq.end=112337897;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q293R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=47;refseq.start=112337897;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr2 112337911 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.281123;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.864G>T;refseq.codonCoord=288;refseq.end=112337911;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q288H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=33;refseq.start=112337911;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr2 112338915 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.328849;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.770T>C;refseq.codonCoord=257;refseq.end=112338915;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M257T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-62;refseq.start=112338915;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 0/1 chr2 112338977 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.400735;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=112338977;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V236V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=112338977;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr2 112338984 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.500000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.701C>T;refseq.codonCoord=234;refseq.end=112338984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S234L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=16;refseq.start=112338984;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap GT 1/0 chr2 112346727 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.514193;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.562C>T;refseq.codonCoord=188;refseq.end=112346727;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L188L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=34;refseq.start=112346727;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap GT 1/0 chr2 112347368 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.269123;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.516A>C;refseq.codonCoord=172;refseq.end=112347368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S172S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-13;refseq.start=112347368;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr2 112347709 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.147106;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.379T>C;refseq.codonCoord=127;refseq.end=112347709;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_022662;refseq.name2=ANAPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L127L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=112347709;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr2 112372843 . A T 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=95.57;MQ0=0;OQ=58.45;QD=5.85;RankSumP=0.187879;SB=-37.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.60A>T;refseq.codonCoord=20;refseq.end=112372843;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R20S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=112372843;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr2 112468399 . G A 294.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.97;MQ0=0;OQ=4156.33;QD=39.96;RankSumP=1.00000;SB=-940.05;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1397G>A;refseq.codonCoord=466;refseq.end=112468399;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R466K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-54;refseq.start=112468399;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 112471472 . A G 225.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=7085.77;QD=39.81;RankSumP=1.00000;SB=-2305.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1552A>G;refseq.codonCoord=518;refseq.end=112471472;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1674;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.I518V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-53;refseq.start=112471472;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr2 112482444 . A G 95.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=14.63;MQ=98.75;MQ0=0;OQ=9692.29;QD=37.42;RankSumP=1.00000;SB=-3249.07;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1881A>G;refseq.codonCoord=627;refseq.end=112482444;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S627S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=14;refseq.start=112482444;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 112502520 . G A 311.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=12.94;MQ=98.50;MQ0=0;OQ=10288.49;QD=21.30;RankSumP=0.161457;SB=-2664.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2608G>A;refseq.codonCoord=870;refseq.end=112502520;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2730;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V870I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=122;refseq.start=112502520;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr2 112502828 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=8.53;MQ=98.80;MQ0=0;OQ=4123.41;QD=21.82;RankSumP=0.250910;SB=-691.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2916G>A;refseq.codonCoord=972;refseq.end=112502828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3038;refseq.name=NM_006343;refseq.name2=MERTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S972S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=430;refseq.start=112502828;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 112580102 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1503G>C;refseq.codonCoord=501;refseq.end=112580102;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1872;refseq.name=NM_032824;refseq.name2=TMEM87B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K501N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-22;refseq.start=112580102;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr2 112968351 . G A 155.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=13.89;MQ=98.55;MQ0=0;OQ=2979.69;QD=16.02;RankSumP=0.463586;SB=-1310.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.397G>A;refseq.codonCoord=133;refseq.end=112968351;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_153712;refseq.name2=TTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-73;refseq.start=112968351;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr2 113024987 . T A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=22.25;MQ=98.87;MQ0=0;OQ=17853.86;QD=41.04;RankSumP=1.00000;SB=-5440.93;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.531T>A;refseq.codingCoordStr_2=c.699T>A;refseq.codonCoord_1=177;refseq.codonCoord_2=233;refseq.end_1=113024987;refseq.end_2=113024987;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1111;refseq.mrnaCoord_2=1279;refseq.name2_1=POLR1B;refseq.name2_2=POLR1B;refseq.name_1=NM_001137604;refseq.name_2=NM_019014;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T177T;refseq.proteinCoordStr_2=p.T233T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=113024987;refseq.start_2=113024987;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr2 113025944 . C T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.73;MQ0=0;OQ=13978.95;QD=42.49;RankSumP=1.00000;SB=-6771.31;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.716C>T;refseq.codingCoordStr_2=c.884C>T;refseq.codonCoord_1=239;refseq.codonCoord_2=295;refseq.end_1=113025944;refseq.end_2=113025944;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1296;refseq.mrnaCoord_2=1464;refseq.name2_1=POLR1B;refseq.name2_2=POLR1B;refseq.name_1=NM_001137604;refseq.name_2=NM_019014;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S239L;refseq.proteinCoordStr_2=p.S295L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=113025944;refseq.start_2=113025944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr2 113121179 . G A 314.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.68;MQ0=0;OQ=12411.80;QD=40.69;RankSumP=1.00000;SB=-4576.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.303G>A;refseq.codonCoord=101;refseq.end=113121179;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_005415;refseq.name2=SLC20A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L101L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-32;refseq.start=113121179;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 113215037 . A G 222.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=586;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.77;MQ0=0;OQ=12326.41;QD=21.03;RankSumP=0.471571;SB=-3986.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1841T>C;refseq.codonCoord=614;refseq.end=113215037;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1920;refseq.name=NM_152515;refseq.name2=CKAP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L614S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=19;refseq.start=113215037;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 113230296 . T C 168.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=98.89;MQ0=0;OQ=15381.06;QD=38.17;RankSumP=1.00000;SB=-7626.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1123A>G;refseq.codonCoord=375;refseq.end=113230296;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_152515;refseq.name2=CKAP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I375V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-272;refseq.start=113230296;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr2 113236600 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=266;Dels=0.00;HRun=2;HaplotypeScore=8.87;MQ=98.93;MQ0=0;OQ=5356.75;QD=20.14;RankSumP=0.00236229;SB=-1832.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.55C>T;refseq.codonCoord=19;refseq.end=113236600;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_152515;refseq.name2=CKAP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L19F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=18;refseq.start=113236600;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/0 chr2 113253694 . C A 264.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.70;MQ0=0;OQ=4539.71;QD=16.75;RankSumP=0.265011;SB=-1643.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.340G>T;refseq.codonCoord=114;refseq.end=113253694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1300;refseq.name=NM_000575;refseq.name2=IL1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A114S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=21;refseq.start=113253694;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 113306861 . G A 145.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=388;Dels=0.00;HRun=2;HaplotypeScore=7.02;MQ=98.70;MQ0=0;OQ=7163.28;QD=18.46;RankSumP=0.325426;SB=-2273.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.315C>T;refseq.codonCoord=105;refseq.end=113306861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_000576;refseq.name2=IL1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F105F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=14;refseq.start=113306861;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr2 113387849 . G T 45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=96.17;MQ0=0;OQ=1212.44;QD=25.26;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_3=c.92G>T;refseq.codingCoordStr_4=c.92G>T;refseq.codonCoord_3=31;refseq.codonCoord_4=31;refseq.end_1=113391166;refseq.end_2=113391672;refseq.end_3=113387849;refseq.end_4=113387849;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=134;refseq.mrnaCoord_4=134;refseq.name2_1=IL1F7;refseq.name2_2=IL1F7;refseq.name2_3=IL1F7;refseq.name2_4=IL1F7;refseq.name_1=NM_173202;refseq.name_2=NM_173203;refseq.name_3=NM_014439;refseq.name_4=NM_173204;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.G31V;refseq.proteinCoordStr_4=p.G31V;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=113387153;refseq.start_2=113387153;refseq.start_3=113387849;refseq.start_4=113387849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 1/1 chr2 113387881 . A G 193.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=96.90;MQ0=0;OQ=1172.41;QD=22.99;RankSumP=1.00000;SB=-593.01;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_3=c.124A>G;refseq.codingCoordStr_4=c.124A>G;refseq.codonCoord_3=42;refseq.codonCoord_4=42;refseq.end_1=113391166;refseq.end_2=113391672;refseq.end_3=113387881;refseq.end_4=113387881;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=166;refseq.mrnaCoord_4=166;refseq.name2_1=IL1F7;refseq.name2_2=IL1F7;refseq.name2_3=IL1F7;refseq.name2_4=IL1F7;refseq.name_1=NM_173202;refseq.name_2=NM_173203;refseq.name_3=NM_014439;refseq.name_4=NM_173204;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T42A;refseq.proteinCoordStr_4=p.T42A;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.start_1=113387153;refseq.start_2=113387153;refseq.start_3=113387881;refseq.start_4=113387881;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr2 113480046 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=4;HaplotypeScore=1.25;MQ=98.90;MQ0=0;OQ=3224.61;QD=34.30;RankSumP=1.00000;SB=-1151.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.35A>G;refseq.codonCoord=12;refseq.end=113480046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=35;refseq.name=NM_014440;refseq.name2=IL1F6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q12R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=25;refseq.start=113480046;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 113548412 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=206;Dels=0.00;HRun=2;HaplotypeScore=5.89;MQ=98.79;MQ0=0;OQ=2845.57;QD=13.81;RankSumP=0.211357;SB=-1054.86;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.68G>A;refseq.codingCoordStr_2=c.68G>A;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=113548412;refseq.end_2=113548412;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=143;refseq.name2_1=IL1F10;refseq.name2_2=IL1F10;refseq.name_1=NM_032556;refseq.name_2=NM_173161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R23K;refseq.proteinCoordStr_2=p.R23K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=113548412;refseq.start_2=113548412;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr2 113548416 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=4.36;MQ=98.80;MQ0=0;OQ=2351.12;QD=11.20;RankSumP=0.471377;SB=-840.00;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.72T>C;refseq.codingCoordStr_2=c.72T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=113548416;refseq.end_2=113548416;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=493;refseq.mrnaCoord_2=147;refseq.name2_1=IL1F10;refseq.name2_2=IL1F10;refseq.name_1=NM_032556;refseq.name_2=NM_173161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D24D;refseq.proteinCoordStr_2=p.D24D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=113548416;refseq.start_2=113548416;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr2 113548804 . C A 187.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.58;MQ0=0;OQ=2334.14;QD=13.34;RankSumP=0.380818;SB=-854.34;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.152C>A;refseq.codingCoordStr_2=c.152C>A;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.end_1=113548804;refseq.end_2=113548804;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=573;refseq.mrnaCoord_2=227;refseq.name2_1=IL1F10;refseq.name2_2=IL1F10;refseq.name_1=NM_032556;refseq.name_2=NM_173161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A51D;refseq.proteinCoordStr_2=p.A51D;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=113548804;refseq.start_2=113548804;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr2 113603678 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=98.89;MQ0=0;OQ=2375.89;QD=12.91;RankSumP=0.0827671;SB=-1112.68;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.117T>C;refseq.codingCoordStr_2=c.180T>C;refseq.codingCoordStr_3=c.171T>C;refseq.codingCoordStr_4=c.69T>C;refseq.codonCoord_1=39;refseq.codonCoord_2=60;refseq.codonCoord_3=57;refseq.codonCoord_4=23;refseq.end_1=113603678;refseq.end_2=113603678;refseq.end_3=113603678;refseq.end_4=113603678;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=243;refseq.mrnaCoord_2=306;refseq.mrnaCoord_3=235;refseq.mrnaCoord_4=414;refseq.name2_1=IL1RN;refseq.name2_2=IL1RN;refseq.name2_3=IL1RN;refseq.name2_4=IL1RN;refseq.name_1=NM_000577;refseq.name_2=NM_173841;refseq.name_3=NM_173842;refseq.name_4=NM_173843;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A39A;refseq.proteinCoordStr_2=p.A60A;refseq.proteinCoordStr_3=p.A57A;refseq.proteinCoordStr_4=p.A23A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=113603678;refseq.start_2=113603678;refseq.start_3=113603678;refseq.start_4=113603678;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/0 chr2 113606775 . T C 203.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=98.53;MQ0=0;OQ=2616.91;QD=13.49;RankSumP=0.0100456;SB=-1056.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.336T>C;refseq.codingCoordStr_2=c.399T>C;refseq.codingCoordStr_3=c.390T>C;refseq.codingCoordStr_4=c.288T>C;refseq.codonCoord_1=112;refseq.codonCoord_2=133;refseq.codonCoord_3=130;refseq.codonCoord_4=96;refseq.end_1=113606775;refseq.end_2=113606775;refseq.end_3=113606775;refseq.end_4=113606775;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=525;refseq.mrnaCoord_3=454;refseq.mrnaCoord_4=633;refseq.name2_1=IL1RN;refseq.name2_2=IL1RN;refseq.name2_3=IL1RN;refseq.name2_4=IL1RN;refseq.name_1=NM_000577;refseq.name_2=NM_173841;refseq.name_3=NM_173842;refseq.name_4=NM_173843;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S112S;refseq.proteinCoordStr_2=p.S133S;refseq.proteinCoordStr_3=p.S130S;refseq.proteinCoordStr_4=p.S96S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.spliceDist_4=72;refseq.start_1=113606775;refseq.start_2=113606775;refseq.start_3=113606775;refseq.start_4=113606775;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/0 chr2 113672842 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=32.11;MQ=96.88;MQ0=0;OQ=1456.54;QD=11.56;RankSumP=0.0758676;SB=-413.83;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2679G>C;refseq.codonCoord=893;refseq.end=113672842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2862;refseq.name=NM_012455;refseq.name2=PSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T893T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=55;refseq.start=113672842;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr2 113715624 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.500031;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_2=c.751T>C;refseq.codingCoordStr_3=c.751T>C;refseq.codingCoordStr_4=c.751T>C;refseq.codingCoordStr_5=c.751T>C;refseq.codingCoordStr_6=c.751T>C;refseq.codonCoord_2=251;refseq.codonCoord_3=251;refseq.codonCoord_4=251;refseq.codonCoord_5=251;refseq.codonCoord_6=251;refseq.end_1=113724803;refseq.end_2=113715624;refseq.end_3=113715624;refseq.end_4=113715624;refseq.end_5=113715624;refseq.end_6=113715624;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=917;refseq.mrnaCoord_3=917;refseq.mrnaCoord_4=917;refseq.mrnaCoord_5=917;refseq.mrnaCoord_6=917;refseq.name2_1=LOC654433;refseq.name2_2=PAX8;refseq.name2_3=PAX8;refseq.name2_4=PAX8;refseq.name2_5=PAX8;refseq.name2_6=PAX8;refseq.name_1=NR_015377;refseq.name_2=NM_003466;refseq.name_3=NM_013951;refseq.name_4=NM_013952;refseq.name_5=NM_013953;refseq.name_6=NM_013992;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.S251P;refseq.proteinCoordStr_3=p.S251P;refseq.proteinCoordStr_4=p.S251P;refseq.proteinCoordStr_5=p.S251P;refseq.proteinCoordStr_6=p.S251P;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.spliceDist_5=-27;refseq.spliceDist_6=-27;refseq.start_1=113710681;refseq.start_2=113715624;refseq.start_3=113715624;refseq.start_4=113715624;refseq.start_5=113715624;refseq.start_6=113715624;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=soap GT 0/1 chr2 113936498 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.391668;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.619T>C;refseq.codonCoord=207;refseq.end=113936498;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_172003;refseq.name2=CBWD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L207L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-44;refseq.start=113936498;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr2 113936525 . T C 315.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=12.73;MQ=36.59;MQ0=22;OQ=7720.42;QD=20.05;RankSumP=0.0358012;SB=-1723.77;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.646T>C;refseq.codonCoord=216;refseq.end=113936525;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_172003;refseq.name2=CBWD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-17;refseq.start=113936525;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 113936531 . G A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0294498;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.652G>A;refseq.codonCoord=218;refseq.end=113936531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_172003;refseq.name2=CBWD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A218T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-11;refseq.start=113936531;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr2 113973310 . C T 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=464;Dels=0.00;HRun=1;HaplotypeScore=27.27;MQ=24.18;MQ0=199;OQ=604.83;QD=1.30;RankSumP=0.388439;SB=-264.02;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.7C>T;refseq.codonCoord=3;refseq.end=113973310;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_012184;refseq.name2=FOXD4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=180;refseq.start=113973310;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 0/1 chr2 113973329 . C T 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.681256;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.26C>T;refseq.codonCoord=9;refseq.end=113973329;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_012184;refseq.name2=FOXD4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=199;refseq.start=113973329;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr2 113973846 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.214286;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.543G>T;refseq.codonCoord=181;refseq.end=113973846;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_012184;refseq.name2=FOXD4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W181C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=716;refseq.start=113973846;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr2 113974406 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.166667;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1103C>T;refseq.codonCoord=368;refseq.end=113974406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1276;refseq.name=NM_012184;refseq.name2=FOXD4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T368I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-792;refseq.start=113974406;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 0/1 chr2 114057098 rs7589328 C T 0.04 PASS AC=1;AF=0.50;AN=2;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=27.45;MQ=31.55;MQ0=109;OQ=1606.47;QD=6.40;SB=-160.61;set=gatk GT:AD:DP:GL:GQ 0/1:181,59:124:-201.27,-37.33,-313.96:99 chr2 114057133 . G A 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=1;HaplotypeScore=7.03;MQ=27.95;MQ0=207;OQ=1921.34;QD=4.09;RankSumP=0.634003;SB=-581.42;SecondBestBaseQ=29;set=Intersection GT 1/0 chr2 116227287 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=7.92;MQ=99.00;MQ0=0;OQ=5666.23;QD=26.73;RankSumP=0.408014;SB=-2154.96;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.997G>C;refseq.codingCoordStr_2=c.1018G>C;refseq.codonCoord_1=333;refseq.codonCoord_2=340;refseq.end_1=116227287;refseq.end_2=116227287;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=1475;refseq.name2_1=DPP10;refseq.name2_2=DPP10;refseq.name_1=NM_001004360;refseq.name_2=NM_020868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A333P;refseq.proteinCoordStr_2=p.A340P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=116227287;refseq.start_2=116227287;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr2 116242430 . G A 396.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.71;MQ0=0;OQ=11024.49;QD=41.29;RankSumP=1.00000;SB=-3767.17;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1180G>A;refseq.codingCoordStr_2=c.1201G>A;refseq.codonCoord_1=394;refseq.codonCoord_2=401;refseq.end_1=116242430;refseq.end_2=116242430;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1259;refseq.mrnaCoord_2=1658;refseq.name2_1=DPP10;refseq.name2_2=DPP10;refseq.name_1=NM_001004360;refseq.name_2=NM_020868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V394I;refseq.proteinCoordStr_2=p.V401I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=116242430;refseq.start_2=116242430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr2 118288831 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8A>C;refseq.codonCoord=3;refseq.end=118288831;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_006773;refseq.name2=DDX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-78;refseq.start=118288831;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 118291685 . C G 237.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.61;MQ0=0;OQ=1498.58;QD=16.29;RankSumP=0.263352;SB=-524.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.281C>G;refseq.codonCoord=94;refseq.end=118291685;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_006773;refseq.name2=DDX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T94S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-90;refseq.start=118291685;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr2 118299570 . G A 300.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=98.02;MQ0=0;OQ=9163.09;QD=21.41;RankSumP=0.0829268;SB=-3298.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1446G>A;refseq.codonCoord=482;refseq.end=118299570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_006773;refseq.name2=DDX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T482T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-76;refseq.start=118299570;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr2 118449301 . G A 238.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.95;MQ0=0;OQ=2475.02;QD=15.00;RankSumP=0.445171;SB=-791.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.683C>T;refseq.codonCoord=228;refseq.end=118449301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_019044;refseq.name2=CCDC93;refseq.positionType=CDS;refseq.proteinCoordStr=p.P228L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=26;refseq.start=118449301;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 118470401 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.371T>G;refseq.codonCoord=124;refseq.end=118470401;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_019044;refseq.name2=CCDC93;refseq.positionType=CDS;refseq.proteinCoordStr=p.V124G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=118470401;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 118488036 . C A 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=2.91;MQ=97.57;MQ0=0;OQ=279.04;QD=7.54;RankSumP=0.651579;SB=-120.42;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.6G>T;refseq.codonCoord=2;refseq.end=118488036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_019044;refseq.name2=CCDC93;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-37;refseq.start=118488036;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr2 119631979 . G T 109.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=79.84;QD=19.96;RankSumP=1.00000;SB=-50.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.337C>A;refseq.codonCoord=113;refseq.end=119631979;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_182528;refseq.name2=C1QL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R113R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-348;refseq.start=119631979;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr2 119719560 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.18C>A;refseq.codingCoordStr_2=c.18C>A;refseq.codingCoordStr_3=c.48C>A;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.codonCoord_3=16;refseq.end_1=119719560;refseq.end_2=119719560;refseq.end_3=119719560;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=107;refseq.mrnaCoord_2=175;refseq.mrnaCoord_3=522;refseq.name2_1=STEAP3;refseq.name2_2=STEAP3;refseq.name2_3=STEAP3;refseq.name_1=NM_001008410;refseq.name_2=NM_018234;refseq.name_3=NM_182915;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D6E;refseq.proteinCoordStr_2=p.D6E;refseq.proteinCoordStr_3=p.D16E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=119719560;refseq.start_2=119719560;refseq.start_3=119719560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 1/0 chr2 119722039 . C T 106.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=411;Dels=0.00;HRun=1;HaplotypeScore=12.06;MQ=98.64;MQ0=0;OQ=15543.23;QD=37.82;RankSumP=1.00000;SB=-3716.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.807C>T;refseq.codingCoordStr_2=c.807C>T;refseq.codingCoordStr_3=c.837C>T;refseq.codonCoord_1=269;refseq.codonCoord_2=269;refseq.codonCoord_3=279;refseq.end_1=119722039;refseq.end_2=119722039;refseq.end_3=119722039;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=896;refseq.mrnaCoord_2=964;refseq.mrnaCoord_3=1311;refseq.name2_1=STEAP3;refseq.name2_2=STEAP3;refseq.name2_3=STEAP3;refseq.name_1=NM_001008410;refseq.name_2=NM_018234;refseq.name_3=NM_182915;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L269L;refseq.proteinCoordStr_2=p.L269L;refseq.proteinCoordStr_3=p.L279L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.spliceDist_3=-214;refseq.start_1=119722039;refseq.start_2=119722039;refseq.start_3=119722039;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/1 chr2 119776552 . T C 295.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=4389.22;QD=42.61;RankSumP=1.00000;SB=-1820.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.347A>G;refseq.codonCoord=116;refseq.end=119776552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_001017927;refseq.name2=C2orf76;refseq.positionType=CDS;refseq.proteinCoordStr=p.K116R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=43;refseq.start=119776552;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr2 119795248 . T C 311.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=6.75;MQ=98.64;MQ0=0;OQ=8501.26;QD=40.10;RankSumP=1.00000;SB=-4027.55;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.136A>G;refseq.codonCoord=46;refseq.end=119795248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_001017927;refseq.name2=C2orf76;refseq.positionType=CDS;refseq.proteinCoordStr=p.I46V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=119795248;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 119915610 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=12.18;MQ=98.56;MQ0=0;OQ=1829.12;QD=9.48;RankSumP=0.0789942;SB=-893.52;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1176T>C;refseq.codonCoord=392;refseq.end=119915610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_002980;refseq.name2=SCTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N392N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=119915610;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr2 120085770 . T C 401.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7430.93;QD=38.50;RankSumP=1.00000;SB=-2638.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=120085770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1547;refseq.name=NM_001029996;refseq.name2=PCDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V145V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-19;refseq.start=120085770;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 120101749 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.709A>C;refseq.codonCoord=237;refseq.end=120101749;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1821;refseq.name=NM_001029996;refseq.name2=PCDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T237P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=51;refseq.start=120101749;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 120104882 . G A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=627;Dels=0.00;HRun=1;HaplotypeScore=24.61;MQ=98.84;MQ0=0;OQ=26236.32;QD=41.84;RankSumP=1.00000;SB=-12475.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1051G>A;refseq.codonCoord=351;refseq.end=120104882;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2163;refseq.name=NM_001029996;refseq.name2=PCDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V351I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-66;refseq.start=120104882;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 120154908 . T G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.46125e-08;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.9T>G;refseq.codingCoordStr_2=c.9T>G;refseq.codingCoordStr_3=c.9T>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.end_1=120154908;refseq.end_2=120154908;refseq.end_3=120154908;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=482;refseq.mrnaCoord_2=90;refseq.mrnaCoord_3=141;refseq.name2_1=TMEM177;refseq.name2_2=TMEM177;refseq.name2_3=TMEM177;refseq.name_1=NM_001105198;refseq.name_2=NM_001105199;refseq.name_3=NM_030577;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G3G;refseq.proteinCoordStr_2=p.G3G;refseq.proteinCoordStr_3=p.G3G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=120154908;refseq.start_2=120154908;refseq.start_3=120154908;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr2 120154993 . A G 441.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=97.00;MQ0=0;OQ=3920.85;QD=37.70;RankSumP=1.00000;SB=-1753.72;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.94A>G;refseq.codingCoordStr_2=c.94A>G;refseq.codingCoordStr_3=c.94A>G;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.end_1=120154993;refseq.end_2=120154993;refseq.end_3=120154993;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=567;refseq.mrnaCoord_2=175;refseq.mrnaCoord_3=226;refseq.name2_1=TMEM177;refseq.name2_2=TMEM177;refseq.name2_3=TMEM177;refseq.name_1=NM_001105198;refseq.name_2=NM_001105199;refseq.name_3=NM_030577;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I32V;refseq.proteinCoordStr_2=p.I32V;refseq.proteinCoordStr_3=p.I32V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=120154993;refseq.start_2=120154993;refseq.start_3=120154993;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr2 120155166 . A G 431.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.46;MQ0=0;OQ=2967.27;QD=37.09;RankSumP=1.00000;SB=-1358.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.267A>G;refseq.codingCoordStr_2=c.267A>G;refseq.codingCoordStr_3=c.267A>G;refseq.codonCoord_1=89;refseq.codonCoord_2=89;refseq.codonCoord_3=89;refseq.end_1=120155166;refseq.end_2=120155166;refseq.end_3=120155166;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=740;refseq.mrnaCoord_2=348;refseq.mrnaCoord_3=399;refseq.name2_1=TMEM177;refseq.name2_2=TMEM177;refseq.name2_3=TMEM177;refseq.name_1=NM_001105198;refseq.name_2=NM_001105199;refseq.name_3=NM_030577;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q89Q;refseq.proteinCoordStr_2=p.Q89Q;refseq.proteinCoordStr_3=p.Q89Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=289;refseq.spliceDist_2=289;refseq.spliceDist_3=289;refseq.start_1=120155166;refseq.start_2=120155166;refseq.start_3=120155166;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr2 120155700 . C G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=227;Dels=0.00;HRun=4;HaplotypeScore=6.09;MQ=98.78;MQ0=0;OQ=10107.24;QD=44.53;RankSumP=1.00000;SB=-4398.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.801C>G;refseq.codingCoordStr_2=c.801C>G;refseq.codingCoordStr_3=c.801C>G;refseq.codonCoord_1=267;refseq.codonCoord_2=267;refseq.codonCoord_3=267;refseq.end_1=120155700;refseq.end_2=120155700;refseq.end_3=120155700;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1274;refseq.mrnaCoord_2=882;refseq.mrnaCoord_3=933;refseq.name2_1=TMEM177;refseq.name2_2=TMEM177;refseq.name2_3=TMEM177;refseq.name_1=NM_001105198;refseq.name_2=NM_001105199;refseq.name_3=NM_030577;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D267E;refseq.proteinCoordStr_2=p.D267E;refseq.proteinCoordStr_3=p.D267E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-465;refseq.spliceDist_2=-465;refseq.spliceDist_3=-465;refseq.start_1=120155700;refseq.start_2=120155700;refseq.start_3=120155700;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr2 120601780 . G A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=489;Dels=0.00;HRun=2;HaplotypeScore=10.71;MQ=98.70;MQ0=0;OQ=21157.49;QD=43.27;RankSumP=1.00000;SB=-8546.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1384G>A;refseq.codonCoord=462;refseq.end=120601780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_020909;refseq.name2=EPB41L5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A462T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=47;refseq.start=120601780;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 120823648 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=4.22893e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.952A>G;refseq.codonCoord=318;refseq.end=120823648;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=998;refseq.name=NM_002193;refseq.name2=INHBB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N318D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=504;refseq.start=120823648;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr2 121442917 . G A 399.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.46;MQ0=0;OQ=6849.02;QD=35.49;RankSumP=1.00000;SB=-2400.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.801G>A;refseq.codonCoord=267;refseq.end=121442917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_005270;refseq.name2=GLI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S267S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-45;refseq.start=121442917;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr2 121463426 . G T 159.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=98.31;MQ0=0;OQ=2806.68;QD=30.51;RankSumP=1.00000;SB=-1289.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3466G>T;refseq.codonCoord=1156;refseq.end=121463426;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3496;refseq.name=NM_005270;refseq.name2=GLI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1156S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1173;refseq.start=121463426;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr2 121463876 . G A 279.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.28;MQ0=0;OQ=2489.50;QD=38.30;RankSumP=1.00000;SB=-1023.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3916G>A;refseq.codonCoord=1306;refseq.end=121463876;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3946;refseq.name=NM_005270;refseq.name2=GLI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1306N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1623;refseq.start=121463876;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 121463899 . A G 67.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.52;MQ0=0;OQ=1758.66;QD=29.81;RankSumP=1.00000;SB=-794.15;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3939A>G;refseq.codonCoord=1313;refseq.end=121463899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3969;refseq.name=NM_005270;refseq.name2=GLI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1313P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1646;refseq.start=121463899;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 121464382 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=2.28592e-07;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4422A>C;refseq.codonCoord=1474;refseq.end=121464382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4452;refseq.name=NM_005270;refseq.name2=GLI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1474P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=2129;refseq.start=121464382;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 121698420 . A G 210.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=9.37;MQ=98.88;MQ0=0;OQ=1956.49;QD=14.28;RankSumP=0.490553;SB=-917.19;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1407T>C;refseq.codonCoord=469;refseq.end=121698420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1500;refseq.name=NM_014553;refseq.name2=TFCP2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D469D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=14;refseq.start=121698420;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr2 127170134 . A C 189.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.94;MQ0=0;OQ=5348.76;QD=16.66;RankSumP=0.396159;SB=-845.18;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.333A>C;refseq.codingCoordStr_2=c.276A>C;refseq.codonCoord_1=111;refseq.codonCoord_2=92;refseq.end_1=127170134;refseq.end_2=127170134;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=432;refseq.name2_1=GYPC;refseq.name2_2=GYPC;refseq.name_1=NM_002101;refseq.name_2=NM_016815;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G111G;refseq.proteinCoordStr_2=p.G92G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=143;refseq.spliceDist_2=143;refseq.start_1=127170134;refseq.start_2=127170134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr2 127526310 . C A 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.43;MQ0=0;OQ=85.72;QD=7.79;RankSumP=0.167298;SB=-68.73;SecondBestBaseQ=31;refseq.changesAA_10=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_10=c.1008G>T;refseq.codingCoordStr_6=c.1362G>T;refseq.codingCoordStr_7=c.1233G>T;refseq.codingCoordStr_8=c.1101G>T;refseq.codingCoordStr_9=c.1137G>T;refseq.codonCoord_10=336;refseq.codonCoord_6=454;refseq.codonCoord_7=411;refseq.codonCoord_8=367;refseq.codonCoord_9=379;refseq.end_1=127533046;refseq.end_10=127526310;refseq.end_2=127531508;refseq.end_3=127531508;refseq.end_4=127533046;refseq.end_5=127533046;refseq.end_6=127526310;refseq.end_7=127526310;refseq.end_8=127526310;refseq.end_9=127526310;refseq.frame_10=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_10=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=1353;refseq.mrnaCoord_6=1707;refseq.mrnaCoord_7=1578;refseq.mrnaCoord_8=1446;refseq.mrnaCoord_9=1482;refseq.name2_1=BIN1;refseq.name2_10=BIN1;refseq.name2_2=BIN1;refseq.name2_3=BIN1;refseq.name2_4=BIN1;refseq.name2_5=BIN1;refseq.name2_6=BIN1;refseq.name2_7=BIN1;refseq.name2_8=BIN1;refseq.name2_9=BIN1;refseq.name_1=NM_139351;refseq.name_10=NM_139349;refseq.name_2=NM_139346;refseq.name_3=NM_139348;refseq.name_4=NM_004305;refseq.name_5=NM_139350;refseq.name_6=NM_139343;refseq.name_7=NM_139344;refseq.name_8=NM_139345;refseq.name_9=NM_139347;refseq.numMatchingRecords=10;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.G336G;refseq.proteinCoordStr_6=p.G454G;refseq.proteinCoordStr_7=p.G411G;refseq.proteinCoordStr_8=p.G367G;refseq.proteinCoordStr_9=p.G379G;refseq.referenceAA_10=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceAA_9=Gly;refseq.referenceCodon_10=GGG;refseq.referenceCodon_6=GGG;refseq.referenceCodon_7=GGG;refseq.referenceCodon_8=GGG;refseq.referenceCodon_9=GGG;refseq.spliceDist_10=-10;refseq.spliceDist_6=-10;refseq.spliceDist_7=-10;refseq.spliceDist_8=-10;refseq.spliceDist_9=-10;refseq.spliceInfo_10=splice-donor_-10;refseq.spliceInfo_6=splice-donor_-10;refseq.spliceInfo_7=splice-donor_-10;refseq.spliceInfo_8=splice-donor_-10;refseq.spliceInfo_9=splice-donor_-10;refseq.start_1=127524969;refseq.start_10=127526310;refseq.start_2=127525300;refseq.start_3=127525300;refseq.start_4=127525300;refseq.start_5=127525300;refseq.start_6=127526310;refseq.start_7=127526310;refseq.start_8=127526310;refseq.start_9=127526310;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_10=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_10=GGT;refseq.variantCodon_6=GGT;refseq.variantCodon_7=GGT;refseq.variantCodon_8=GGT;refseq.variantCodon_9=GGT;set=Intersection GT 1/0 chr2 127543003 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=8.87;MQ=98.74;MQ0=0;OQ=1827.32;QD=9.37;RankSumP=0.369911;SB=-596.12;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.486T>C;refseq.codingCoordStr_10=c.486T>C;refseq.codingCoordStr_2=c.486T>C;refseq.codingCoordStr_3=c.486T>C;refseq.codingCoordStr_4=c.486T>C;refseq.codingCoordStr_5=c.486T>C;refseq.codingCoordStr_6=c.486T>C;refseq.codingCoordStr_7=c.486T>C;refseq.codingCoordStr_8=c.486T>C;refseq.codingCoordStr_9=c.486T>C;refseq.codonCoord_1=162;refseq.codonCoord_10=162;refseq.codonCoord_2=162;refseq.codonCoord_3=162;refseq.codonCoord_4=162;refseq.codonCoord_5=162;refseq.codonCoord_6=162;refseq.codonCoord_7=162;refseq.codonCoord_8=162;refseq.codonCoord_9=162;refseq.end_1=127543003;refseq.end_10=127543003;refseq.end_2=127543003;refseq.end_3=127543003;refseq.end_4=127543003;refseq.end_5=127543003;refseq.end_6=127543003;refseq.end_7=127543003;refseq.end_8=127543003;refseq.end_9=127543003;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_10=831;refseq.mrnaCoord_2=831;refseq.mrnaCoord_3=831;refseq.mrnaCoord_4=831;refseq.mrnaCoord_5=831;refseq.mrnaCoord_6=831;refseq.mrnaCoord_7=831;refseq.mrnaCoord_8=831;refseq.mrnaCoord_9=831;refseq.name2_1=BIN1;refseq.name2_10=BIN1;refseq.name2_2=BIN1;refseq.name2_3=BIN1;refseq.name2_4=BIN1;refseq.name2_5=BIN1;refseq.name2_6=BIN1;refseq.name2_7=BIN1;refseq.name2_8=BIN1;refseq.name2_9=BIN1;refseq.name_1=NM_004305;refseq.name_10=NM_139351;refseq.name_2=NM_139343;refseq.name_3=NM_139344;refseq.name_4=NM_139345;refseq.name_5=NM_139346;refseq.name_6=NM_139347;refseq.name_7=NM_139348;refseq.name_8=NM_139349;refseq.name_9=NM_139350;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.T162T;refseq.proteinCoordStr_10=p.T162T;refseq.proteinCoordStr_2=p.T162T;refseq.proteinCoordStr_3=p.T162T;refseq.proteinCoordStr_4=p.T162T;refseq.proteinCoordStr_5=p.T162T;refseq.proteinCoordStr_6=p.T162T;refseq.proteinCoordStr_7=p.T162T;refseq.proteinCoordStr_8=p.T162T;refseq.proteinCoordStr_9=p.T162T;refseq.referenceAA_1=Thr;refseq.referenceAA_10=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceAA_9=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_10=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.referenceCodon_6=ACT;refseq.referenceCodon_7=ACT;refseq.referenceCodon_8=ACT;refseq.referenceCodon_9=ACT;refseq.spliceDist_1=-34;refseq.spliceDist_10=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.spliceDist_5=-34;refseq.spliceDist_6=-34;refseq.spliceDist_7=-34;refseq.spliceDist_8=-34;refseq.spliceDist_9=-34;refseq.start_1=127543003;refseq.start_10=127543003;refseq.start_2=127543003;refseq.start_3=127543003;refseq.start_4=127543003;refseq.start_5=127543003;refseq.start_6=127543003;refseq.start_7=127543003;refseq.start_8=127543003;refseq.start_9=127543003;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Thr;refseq.variantAA_10=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantAA_9=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_10=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;refseq.variantCodon_8=ACC;refseq.variantCodon_9=ACC;set=Intersection GT 0/1 chr2 127669524 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=4.24;MQ=98.59;MQ0=0;OQ=2320.35;QD=11.72;RankSumP=0.317045;SB=-1095.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.576T>G;refseq.codonCoord=192;refseq.end=127669524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_001001665;refseq.name2=CYP27C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T192T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=24;refseq.start=127669524;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr2 127897342 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.49;MQ0=0;OQ=101.76;QD=11.31;RankSumP=0.472611;SB=-74.75;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.423G>T;refseq.codonCoord=141;refseq.end=127897342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=517;refseq.name=NM_000312;refseq.name2=PROC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=23;refseq.start=127897342;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr2 127901240 . T C 124.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=98.57;MQ0=0;OQ=717.04;QD=13.28;RankSumP=0.436935;SB=-214.99;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.768T>C;refseq.codonCoord=256;refseq.end=127901240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=862;refseq.name=NM_000312;refseq.name2=PROC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D256D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-29;refseq.start=127901240;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr2 127979019 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.930G>C;refseq.codonCoord=310;refseq.end=127979019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_017969;refseq.name2=IWS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G310G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-290;refseq.start=127979019;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr2 128117078 . C T 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=97.49;MQ0=0;OQ=1143.07;QD=30.89;RankSumP=1.00000;SB=-422.54;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_2=c.465G>A;refseq.codingCoordStr_3=c.399G>A;refseq.codingCoordStr_4=c.384G>A;refseq.codingCoordStr_5=c.471G>A;refseq.codonCoord_2=155;refseq.codonCoord_3=133;refseq.codonCoord_4=128;refseq.codonCoord_5=157;refseq.end_1=128117078;refseq.end_2=128117078;refseq.end_3=128117078;refseq.end_4=128117078;refseq.end_5=128117078;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=182;refseq.mrnaCoord_2=631;refseq.mrnaCoord_3=565;refseq.mrnaCoord_4=855;refseq.mrnaCoord_5=676;refseq.name2_1=LIMS2;refseq.name2_2=LIMS2;refseq.name2_3=LIMS2;refseq.name2_4=LIMS2;refseq.name2_5=LIMS2;refseq.name_1=NR_027823;refseq.name_2=NM_001136037;refseq.name_3=NM_001161403;refseq.name_4=NM_001161404;refseq.name_5=NM_017980;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.K155K;refseq.proteinCoordStr_3=p.K133K;refseq.proteinCoordStr_4=p.K128K;refseq.proteinCoordStr_5=p.K157K;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.spliceDist_5=40;refseq.start_1=128117078;refseq.start_2=128117078;refseq.start_3=128117078;refseq.start_4=128117078;refseq.start_5=128117078;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;set=Intersection GT 1/1 chr2 128180586 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=585.53;QD=13.01;RankSumP=0.523847;SB=-79.27;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3792C>T;refseq.codonCoord=1264;refseq.end=128180586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3975;refseq.name=NM_018383;refseq.name2=WDR33;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1264G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=11;refseq.start=128180586;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr2 128324654 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=6.16;MQ=98.28;MQ0=0;OQ=8156.70;QD=18.09;RankSumP=0.176839;SB=-3125.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.330G>A;refseq.codonCoord=110;refseq.end=128324654;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_004805;refseq.name2=POLR2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-21;refseq.start=128324654;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 128460843 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2022A>C;refseq.codingCoordStr_2=c.2022A>C;refseq.codonCoord_1=674;refseq.codonCoord_2=674;refseq.end_1=128460843;refseq.end_2=128460843;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2154;refseq.mrnaCoord_2=2154;refseq.name2_1=SAP130;refseq.name2_2=SAP130;refseq.name_1=NM_001145928;refseq.name_2=NM_024545;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K674N;refseq.proteinCoordStr_2=p.K674N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=128460843;refseq.start_2=128460843;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr2 128474465 . A C 120.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.88;MQ0=0;OQ=4525.76;QD=15.34;RankSumP=0.351298;SB=-1491.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.981T>G;refseq.codingCoordStr_2=c.981T>G;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=128474465;refseq.end_2=128474465;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1113;refseq.name2_1=SAP130;refseq.name2_2=SAP130;refseq.name_1=NM_001145928;refseq.name_2=NM_024545;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S327S;refseq.proteinCoordStr_2=p.S327S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=128474465;refseq.start_2=128474465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr2 128587278 . T C 368.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.53;MQ0=0;OQ=3955.92;QD=42.08;RankSumP=1.00000;SB=-820.66;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.672T>C;refseq.codonCoord_2=224;refseq.end_1=128587278;refseq.end_2=128587278;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=850;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N224N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=128587278;refseq.start_2=128587278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr2 128594484 . G A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=6895.76;QD=44.20;RankSumP=1.00000;SB=-1997.44;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.957G>A;refseq.codonCoord_2=319;refseq.end_1=128594484;refseq.end_2=128594484;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1288;refseq.mrnaCoord_2=1135;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K319K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=128594484;refseq.start_2=128594484;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr2 128612829 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.1652T>G;refseq.codonCoord_2=551;refseq.end_1=128612829;refseq.end_2=128612829;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=1830;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V551G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=128612829;refseq.start_2=128612829;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr2 128644385 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.2975T>G;refseq.codonCoord_2=992;refseq.end_1=128644385;refseq.end_2=128644385;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3306;refseq.mrnaCoord_2=3153;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V992G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=128644385;refseq.start_2=128644385;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr2 128646703 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.221321;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.3191T>C;refseq.codonCoord_2=1064;refseq.end_1=128646703;refseq.end_2=128646703;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3522;refseq.mrnaCoord_2=3369;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M1064T;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=128646703;refseq.start_2=128646703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=FilteredInAll GT 1/0 chr2 128647844 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.3314C>G;refseq.codonCoord_2=1105;refseq.end_1=128647844;refseq.end_2=128647844;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3645;refseq.mrnaCoord_2=3492;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A1105G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=128647844;refseq.start_2=128647844;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr2 128650870 . T C 233.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=4.47;MQ=98.75;MQ0=0;OQ=2804.67;QD=16.40;RankSumP=0.349001;SB=-1014.93;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.3552T>C;refseq.codonCoord_2=1184;refseq.end_1=128650870;refseq.end_2=128650870;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3883;refseq.mrnaCoord_2=3730;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1184T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=128650870;refseq.start_2=128650870;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr2 128656269 . C T 332.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=9.53;MQ=99.00;MQ0=0;OQ=5861.91;QD=19.47;RankSumP=0.273127;SB=-1336.38;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.4179C>T;refseq.codonCoord_2=1393;refseq.end_1=128656269;refseq.end_2=128656269;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4510;refseq.mrnaCoord_2=4357;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D1393D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=128656269;refseq.start_2=128656269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr2 128656287 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=239;Dels=0.00;HRun=2;HaplotypeScore=13.29;MQ=99.00;MQ0=0;OQ=4675.40;QD=19.56;RankSumP=0.342716;SB=-1162.04;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.4197G>A;refseq.codonCoord_2=1399;refseq.end_1=128656287;refseq.end_2=128656287;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4528;refseq.mrnaCoord_2=4375;refseq.name2_1=UGGT1;refseq.name2_2=UGGT1;refseq.name_1=NR_027671;refseq.name_2=NM_020120;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K1399K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=128656287;refseq.start_2=128656287;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr2 128792347 . G T 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=24.56;MQ0=89;OQ=421.01;QD=3.19;RankSumP=1.00000;SB=-56.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.261C>A;refseq.codonCoord=87;refseq.end=128792347;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_004807;refseq.name2=HS6ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D87E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-267;refseq.start=128792347;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr2 128792389 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=26.44;MQ0=77;OQ=378.49;QD=2.21;RankSumP=0.266667;SB=-184.74;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.219C>T;refseq.codonCoord=73;refseq.end=128792389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_004807;refseq.name2=HS6ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R73R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=253;refseq.start=128792389;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr2 128792421 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=18.99;MQ=32.86;MQ0=29;OQ=219.31;QD=2.13;RankSumP=0.632168;SB=-1.30;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.187C>G;refseq.codonCoord=63;refseq.end=128792421;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=221;refseq.name=NM_004807;refseq.name2=HS6ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H63D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=221;refseq.start=128792421;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr2 128792431 rs1133923 T C 0.41 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=12.03;MQ=32.54;MQ0=29;OQ=90.08;QD=1.22;SB=-64.30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=128792431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_004807;refseq.name2=HS6ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T59T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=211;refseq.start=128792431;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=gatk GT:AD:DP:GL:GQ 0/1:31,41:29:-21.03,-8.74,-92.69:99 chr2 128792466 . G C 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.547619;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.142C>G;refseq.codonCoord=48;refseq.end=128792466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_004807;refseq.name2=HS6ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R48G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=176;refseq.start=128792466;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr2 130613704 . C T 285.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=89.88;MQ0=7;OQ=3783.05;QD=34.71;RankSumP=1.00000;SB=-1606.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1037G>A;refseq.codonCoord=346;refseq.end=130613704;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R346H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=30;refseq.start=130613704;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 130614090 . A G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=21;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=21.09;MQ0=12;OQ=171.22;QD=8.15;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.926T>C;refseq.codonCoord=309;refseq.end=130614090;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V309A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-25;refseq.start=130614090;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr2 130614095 . C A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.600000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.921G>T;refseq.codonCoord=307;refseq.end=130614095;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q307H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-30;refseq.start=130614095;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr2 130615283 . G A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.404040;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.601C>T;refseq.codonCoord=201;refseq.end=130615283;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P201S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=57;refseq.start=130615283;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr2 130616274 . T C 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=24.16;MQ0=64;OQ=215.93;QD=2.60;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.446A>G;refseq.codonCoord=149;refseq.end=130616274;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H149R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-99;refseq.start=130616274;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=filterInsoap-gatk GT 1/1 chr2 130616410 . T C 26.05 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=285;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=7.54;MQ0=266;QD=0.09;SB=-10.00;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.310A>G;refseq.codonCoord=104;refseq.end=130616410;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_207310;refseq.name2=CCDC74B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N104D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=15;refseq.start=130616410;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:228,56:17:-11.01,-5.12,-57.38:58.88 chr2 130641558 . C T 340.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=90.31;MQ0=1;OQ=4032.64;QD=40.33;RankSumP=1.00000;SB=-1826.39;SecondBestBaseQ=34;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_5=c.633G>A;refseq.codingCoordStr_6=c.852G>A;refseq.codingCoordStr_7=c.852G>A;refseq.codonCoord_5=211;refseq.codonCoord_6=284;refseq.codonCoord_7=284;refseq.end_1=130648946;refseq.end_2=130641558;refseq.end_3=130641558;refseq.end_4=130641558;refseq.end_5=130641558;refseq.end_6=130641558;refseq.end_7=130641558;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=1381;refseq.mrnaCoord_3=1858;refseq.mrnaCoord_4=1925;refseq.mrnaCoord_5=1782;refseq.mrnaCoord_6=2001;refseq.mrnaCoord_7=2001;refseq.name2_1=SMPD4;refseq.name2_2=SMPD4;refseq.name2_3=SMPD4;refseq.name2_4=SMPD4;refseq.name2_5=SMPD4;refseq.name2_6=SMPD4;refseq.name2_7=SMPD4;refseq.name_1=NM_001171084;refseq.name_2=NR_033230;refseq.name_3=NR_033231;refseq.name_4=NR_033232;refseq.name_5=NM_001171083;refseq.name_6=NM_017751;refseq.name_7=NM_017951;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.T211T;refseq.proteinCoordStr_6=p.T284T;refseq.proteinCoordStr_7=p.T284T;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.spliceDist_5=-58;refseq.spliceDist_6=-58;refseq.spliceDist_7=-58;refseq.start_1=130638499;refseq.start_2=130641558;refseq.start_3=130641558;refseq.start_4=130641558;refseq.start_5=130641558;refseq.start_6=130641558;refseq.start_7=130641558;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;set=Intersection GT 1/1 chr2 130641630 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_5=c.561A>C;refseq.codingCoordStr_6=c.780A>C;refseq.codingCoordStr_7=c.780A>C;refseq.codonCoord_5=187;refseq.codonCoord_6=260;refseq.codonCoord_7=260;refseq.end_1=130648946;refseq.end_2=130641630;refseq.end_3=130641630;refseq.end_4=130641630;refseq.end_5=130641630;refseq.end_6=130641630;refseq.end_7=130641630;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=1309;refseq.mrnaCoord_3=1786;refseq.mrnaCoord_4=1853;refseq.mrnaCoord_5=1710;refseq.mrnaCoord_6=1929;refseq.mrnaCoord_7=1929;refseq.name2_1=SMPD4;refseq.name2_2=SMPD4;refseq.name2_3=SMPD4;refseq.name2_4=SMPD4;refseq.name2_5=SMPD4;refseq.name2_6=SMPD4;refseq.name2_7=SMPD4;refseq.name_1=NM_001171084;refseq.name_2=NR_033230;refseq.name_3=NR_033231;refseq.name_4=NR_033232;refseq.name_5=NM_001171083;refseq.name_6=NM_017751;refseq.name_7=NM_017951;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.T187T;refseq.proteinCoordStr_6=p.T260T;refseq.proteinCoordStr_7=p.T260T;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceDist_5=4;refseq.spliceDist_6=4;refseq.spliceDist_7=4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.spliceInfo_5=splice-acceptor_4;refseq.spliceInfo_6=splice-acceptor_4;refseq.spliceInfo_7=splice-acceptor_4;refseq.start_1=130638499;refseq.start_2=130641630;refseq.start_3=130641630;refseq.start_4=130641630;refseq.start_5=130641630;refseq.start_6=130641630;refseq.start_7=130641630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=FilteredInAll GT 1/0 chr2 130650647 . G A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.120353;SecondBestBaseQ=34;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_4=c.106C>T;refseq.codingCoordStr_5=c.106C>T;refseq.codingCoordStr_6=c.106C>T;refseq.codingCoordStr_7=c.106C>T;refseq.codonCoord_4=36;refseq.codonCoord_5=36;refseq.codonCoord_6=36;refseq.codonCoord_7=36;refseq.end_1=130650647;refseq.end_2=130650647;refseq.end_3=130650647;refseq.end_4=130650647;refseq.end_5=130650647;refseq.end_6=130650647;refseq.end_7=130650647;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1255;refseq.mrnaCoord_2=1255;refseq.mrnaCoord_3=1255;refseq.mrnaCoord_4=1255;refseq.mrnaCoord_5=1255;refseq.mrnaCoord_6=1255;refseq.mrnaCoord_7=1255;refseq.name2_1=SMPD4;refseq.name2_2=SMPD4;refseq.name2_3=SMPD4;refseq.name2_4=SMPD4;refseq.name2_5=SMPD4;refseq.name2_6=SMPD4;refseq.name2_7=SMPD4;refseq.name_1=NR_033230;refseq.name_2=NR_033231;refseq.name_3=NR_033232;refseq.name_4=NM_001171083;refseq.name_5=NM_001171084;refseq.name_6=NM_017751;refseq.name_7=NM_017951;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.L36L;refseq.proteinCoordStr_5=p.L36L;refseq.proteinCoordStr_6=p.L36L;refseq.proteinCoordStr_7=p.L36L;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.referenceCodon_7=CTG;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.spliceDist_5=34;refseq.spliceDist_6=34;refseq.spliceDist_7=34;refseq.start_1=130650647;refseq.start_2=130650647;refseq.start_3=130650647;refseq.start_4=130650647;refseq.start_5=130650647;refseq.start_6=130650647;refseq.start_7=130650647;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_4=TTG;refseq.variantCodon_5=TTG;refseq.variantCodon_6=TTG;refseq.variantCodon_7=TTG;set=soap GT 1/0 chr2 130665881 . G T 119.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=45.81;MQ0=96;OQ=2614.30;QD=14.06;RankSumP=1.00000;SB=-981.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1346C>A;refseq.codonCoord=449;refseq.end=130665881;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1447;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A449E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-94;refseq.start=130665881;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr2 130665961 . G A 112.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=33.28;MQ0=71;OQ=5495.67;QD=25.80;RankSumP=1.00000;SB=-2416.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1266C>T;refseq.codonCoord=422;refseq.end=130665961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R422R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-174;refseq.start=130665961;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr2 130666023 . A G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=17.49;MQ0=155;OQ=445.95;QD=2.51;RankSumP=1.00000;SB=-244.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1204T>C;refseq.codonCoord=402;refseq.end=130666023;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.W402R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=148;refseq.start=130666023;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 130668018 . G A 105.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=542;Dels=0.00;HRun=0;HaplotypeScore=22.20;MQ=32.17;MQ0=258;OQ=9908.67;QD=18.28;RankSumP=1.00000;SB=-3170.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.867C>T;refseq.codonCoord=289;refseq.end=130668018;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=968;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A289A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-190;refseq.start=130668018;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 130668036 . G A 135.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=18.85;MQ=41.78;MQ0=193;OQ=9393.38;QD=20.69;RankSumP=1.00000;SB=-3858.16;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.849C>T;refseq.codonCoord=283;refseq.end=130668036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.H283H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-208;refseq.start=130668036;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 130668051 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=393;Dels=0.00;HRun=1;HaplotypeScore=33.98;MQ=47.18;MQ0=77;OQ=10510.95;QD=26.75;RankSumP=1.00000;SB=-4570.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.834T>C;refseq.codonCoord=278;refseq.end=130668051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A278A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-223;refseq.start=130668051;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 130668054 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=399;Dels=0.00;HRun=1;HaplotypeScore=43.92;MQ=46.96;MQ0=62;OQ=11162.14;QD=27.98;RankSumP=1.00000;SB=-5026.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.831A>G;refseq.codonCoord=277;refseq.end=130668054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S277S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-226;refseq.start=130668054;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 130668224 . G T 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=706;Dels=0.00;HRun=2;HaplotypeScore=13.10;MQ=14.10;MQ0=543;OQ=3092.29;QD=4.38;RankSumP=1.00000;SB=-849.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.661C>A;refseq.codonCoord=221;refseq.end=130668224;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R221S;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=286;refseq.start=130668224;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr2 130668318 . T C 13 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.567A>G;refseq.codonCoord=189;refseq.end=130668318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.L189L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=192;refseq.start=130668318;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr2 130668419 . G A 189.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=22.06;MQ0=89;OQ=5989.99;QD=24.25;RankSumP=1.00000;SB=-2058.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.466C>T;refseq.codonCoord=156;refseq.end=130668419;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R156W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=91;refseq.start=130668419;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr2 130668508 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.250000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.377C>T;refseq.codonCoord=126;refseq.end=130668508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A126V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=130668508;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr2 130669188 . G A 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=11.72;MQ=13.80;MQ0=288;OQ=786.71;QD=2.33;RankSumP=0.333333;SB=-304.89;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=130669188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y103Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-67;refseq.start=130669188;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr2 130669195 . C T 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=6.80;MQ=15.73;MQ0=259;OQ=1123.97;QD=3.48;RankSumP=1.00000;SB=-318.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.302G>A;refseq.codonCoord=101;refseq.end=130669195;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S101N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-74;refseq.start=130669195;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/1 chr2 130669265 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.166667;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.232G>C;refseq.codonCoord=78;refseq.end=130669265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_207312;refseq.name2=TUBA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=130669265;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr2 130996151 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.225A>C;refseq.codingCoordStr_2=c.225A>C;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=130996151;refseq.end_2=130996151;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=616;refseq.mrnaCoord_2=447;refseq.name2_1=CFC1B;refseq.name2_2=CFC1;refseq.name_1=NM_001079530;refseq.name_2=NM_032545;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P75P;refseq.proteinCoordStr_2=p.P75P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=130996151;refseq.start_2=130996151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr2 131204143 . A C 125.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=1;HaplotypeScore=10.88;MQ=98.52;MQ0=0;OQ=11410.83;QD=37.29;RankSumP=1.00000;SB=-2242.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.949A>C;refseq.codonCoord=317;refseq.end=131204143;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_207364;refseq.name2=GPR148;refseq.positionType=CDS;refseq.proteinCoordStr=p.T317P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-237;refseq.start=131204143;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr2 131237133 . T C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=3;HaplotypeScore=2.47;MQ=98.45;MQ0=0;OQ=5621.22;QD=36.50;RankSumP=1.00000;SB=-2462.97;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1018T>C;refseq.codingCoordStr_2=c.1018T>C;refseq.codingCoordStr_3=c.1018T>C;refseq.codingCoordStr_4=c.1018T>C;refseq.codonCoord_1=340;refseq.codonCoord_2=340;refseq.codonCoord_3=340;refseq.codonCoord_4=340;refseq.end_1=131237133;refseq.end_2=131237133;refseq.end_3=131237133;refseq.end_4=131237133;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1192;refseq.mrnaCoord_2=1128;refseq.mrnaCoord_3=1125;refseq.mrnaCoord_4=1208;refseq.name2_1=FAM123C;refseq.name2_2=FAM123C;refseq.name2_3=FAM123C;refseq.name2_4=FAM123C;refseq.name_1=NM_001105193;refseq.name_2=NM_001105194;refseq.name_3=NM_001105195;refseq.name_4=NM_152698;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S340P;refseq.proteinCoordStr_2=p.S340P;refseq.proteinCoordStr_3=p.S340P;refseq.proteinCoordStr_4=p.S340P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=1037;refseq.spliceDist_2=1037;refseq.spliceDist_3=1034;refseq.spliceDist_4=1037;refseq.start_1=131237133;refseq.start_2=131237133;refseq.start_3=131237133;refseq.start_4=131237133;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/1 chr2 131595009 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.25T>G;refseq.codingCoordStr_2=c.25T>G;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=131595009;refseq.end_2=131595009;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=585;refseq.name2_1=PLEKHB2;refseq.name2_2=PLEKHB2;refseq.name_1=NM_001100623;refseq.name_2=NM_017958;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L9V;refseq.proteinCoordStr_2=p.L9V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=131595009;refseq.start_2=131595009;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr2 131952305 . C T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.523529;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.102C>T;refseq.codonCoord=34;refseq.end=131952305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.G34G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=99;refseq.start=131952305;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr2 131953391 . G A 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.500000;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.267G>A;refseq.codonCoord=89;refseq.end=131953391;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P89P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=41;refseq.start=131953391;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr2 131953433 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=994;Dels=0.00;HRun=0;HaplotypeScore=34.05;MQ=25.34;MQ0=321;OQ=6052.68;QD=6.09;RankSumP=0.500000;SB=-1580.22;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=131953433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y103Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-67;refseq.start=131953433;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap-filterIngatk GT 0/1 chr2 131954113 . C T 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=362;Dels=0.00;HRun=0;HaplotypeScore=14.81;MQ=19.86;MQ0=179;OQ=878.27;QD=2.43;RankSumP=0.242857;SB=-281.04;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.377C>T;refseq.codonCoord=126;refseq.end=131954113;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.A126V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=131954113;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr2 131954148 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.200000;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.412T>C;refseq.codonCoord=138;refseq.end=131954148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.F138L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=37;refseq.start=131954148;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr2 131954202 . C T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.466C>T;refseq.codonCoord=156;refseq.end=131954202;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.R156W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=91;refseq.start=131954202;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr2 131954415 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0666667;SecondBestBaseQ=35;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.679C>A;refseq.codonCoord=227;refseq.end=131954415;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.L227I;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=304;refseq.start=131954415;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr2 131954453 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.250000;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.717A>G;refseq.codonCoord=239;refseq.end=131954453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T239T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-340;refseq.start=131954453;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 0/1 chr2 131956804 . C T 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=11.09;MQ=28.79;MQ0=143;OQ=960.17;QD=2.62;RankSumP=0.500000;SB=12.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1266C>T;refseq.codonCoord=422;refseq.end=131956804;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1373;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.R422R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-174;refseq.start=131956804;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr2 131956833 . A G 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.220052;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1295A>G;refseq.codonCoord=432;refseq.end=131956833;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_080386;refseq.name2=TUBA3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y432C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-145;refseq.start=131956833;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr2 132006911 rs2599954 G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=35.19;MQ0=10;OQ=204.78;QD=3.20;SB=44.17;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.881G>A;refseq.codonCoord=294;refseq.end=132006911;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_138770;refseq.name2=CCDC74A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R294Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=132006911;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:38,26:42:-36.41,-12.65,-125.28:99 chr2 132241246 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chr2;refseq.codingCoordStr=c.*1C>G;refseq.end=132241246;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=1018;refseq.name=NM_013310;refseq.name2=C2orf27A;refseq.positionType=utr3;refseq.spliceDist=-202;refseq.start=132241246;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chr2 132269411 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.425T>C;refseq.codonCoord=142;refseq.end=132269411;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_214461;refseq.name2=C2orf27B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L142P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=379;refseq.start=132269411;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 132731022 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=154;Dels=0.00;HRun=0;HaplotypeScore=37.59;MQ=65.84;MQ0=2;OQ=286.24;QD=1.86;SB=-157.17;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=132731561;refseq.end_2=132731022;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=102;refseq.name2_1=NCRNA00164;refseq.name2_2=MIR663B;refseq.name_1=NR_027020;refseq.name_2=NR_031608;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-14;refseq.start_1=132631200;refseq.start_2=132731022;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:134,18:86:-57.82,-25.91,-260.63:99 chr2 132731062 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=161;Dels=0.00;HRun=0;HaplotypeScore=56.99;MQ=71.59;MQ0=2;OQ=126.96;QD=0.79;SB=3.37;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=132731561;refseq.end_2=132731062;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=62;refseq.name2_1=NCRNA00164;refseq.name2_2=MIR663B;refseq.name_1=NR_027020;refseq.name_2=NR_031608;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-54;refseq.start_1=132631200;refseq.start_2=132731062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:139,15:57:-33.16,-17.18,-171.47:99 chr2 132731072 . G C 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=135;Dels=0.00;HRun=0;HaplotypeScore=47.34;MQ=76.77;MQ0=1;OQ=840.35;QD=6.22;RankSumP=0.357399;SB=-357.06;SecondBestBaseQ=27;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=132731561;refseq.end_2=132731072;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=52;refseq.name2_1=NCRNA00164;refseq.name2_2=MIR663B;refseq.name_1=NR_027020;refseq.name_2=NR_031608;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=52;refseq.start_1=132631200;refseq.start_2=132731072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=soap-filterIngatk GT 0/1 chr2 132731082 . A C 48 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=100;Dels=0.00;HRun=2;HaplotypeScore=60.88;MQ=80.51;MQ0=0;OQ=778.18;QD=7.78;RankSumP=0.00665494;SB=-226.29;SecondBestBaseQ=17;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=132731561;refseq.end_2=132731082;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=42;refseq.name2_1=NCRNA00164;refseq.name2_2=MIR663B;refseq.name_1=NR_027020;refseq.name_2=NR_031608;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=42;refseq.start_1=132631200;refseq.start_2=132731082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr2 132731103 . T C 0.04 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=15.38;MQ=84.88;MQ0=0;OQ=63.38;QD=0.91;SB=41.16;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=132731561;refseq.end_2=132731103;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=21;refseq.name2_1=NCRNA00164;refseq.name2_2=MIR663B;refseq.name_1=NR_027020;refseq.name_2=NR_031608;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=21;refseq.start_1=132631200;refseq.start_2=132731103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=gatk GT:AD:DP:GL:GQ 0/1:54,14:52:-25.29,-15.67,-177.52:96.22 chr2 132891234 . C T 347.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=8.95;MQ=98.55;MQ0=0;OQ=6680.95;QD=21.14;RankSumP=0.411928;SB=-2220.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.149C>T;refseq.codonCoord=50;refseq.end=132891234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_001508;refseq.name2=GPR39;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=618;refseq.start=132891234;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr2 132891469 . A G 271.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=98.50;MQ0=0;OQ=2458.95;QD=15.37;RankSumP=0.0339009;SB=-921.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.384A>G;refseq.codonCoord=128;refseq.end=132891469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_001508;refseq.name2=GPR39;refseq.positionType=CDS;refseq.proteinCoordStr=p.T128T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-473;refseq.start=132891469;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr2 135428207 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1712G>C;refseq.codingCoordStr_2=c.1712G>C;refseq.codonCoord_1=571;refseq.codonCoord_2=571;refseq.end_1=135428207;refseq.end_2=135428207;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1744;refseq.mrnaCoord_2=1744;refseq.name2_1=CCNT2;refseq.name2_2=CCNT2;refseq.name_1=NM_001241;refseq.name_2=NM_058241;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S571T;refseq.proteinCoordStr_2=p.S571T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-213;refseq.spliceDist_2=938;refseq.start_1=135428207;refseq.start_2=135428207;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr2 135587312 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.482+2;refseq.codingCoordStr_2=c.482+2;refseq.end_1=135587312;refseq.end_2=135587312;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=RAB3GAP1;refseq.name2_2=RAB3GAP1;refseq.name_1=NM_001172435;refseq.name_2=NM_012233;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=135587312;refseq.start_2=135587312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr2 136216053 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr2;refseq.codingCoordStr=c.82+2;refseq.end=136216053;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014607;refseq.name2=UBXN4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=136216053;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr2 136262580 . A G 235.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=3182.53;QD=37.01;RankSumP=1.00000;SB=-600.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5568T>C;refseq.codonCoord=1856;refseq.end=136262580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5579;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1856A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=136262580;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 136272129 . T C 205.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.86;MQ0=0;OQ=17239.57;QD=40.47;RankSumP=1.00000;SB=-7594.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4916A>G;refseq.codonCoord=1639;refseq.end=136272129;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4927;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1639S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=50;refseq.start=136272129;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr2 136278027 . G A 341.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=4.80;MQ=98.89;MQ0=0;OQ=10072.10;QD=41.28;RankSumP=1.00000;SB=-3511.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4606C>T;refseq.codonCoord=1536;refseq.end=136278027;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4617;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1536L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-58;refseq.start=136278027;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 136291669 . G T 406.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=99.00;MQ0=0;OQ=2625.59;QD=36.98;RankSumP=1.00000;SB=-944.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1419C>A;refseq.codonCoord=473;refseq.end=136291669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1430;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.G473G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-289;refseq.start=136291669;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr2 136292004 . T C 448.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.91;MQ0=0;OQ=4786.48;QD=39.89;RankSumP=1.00000;SB=-1757.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1084A>G;refseq.codonCoord=362;refseq.end=136292004;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.I362V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=98;refseq.start=136292004;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 136297973 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.875A>C;refseq.codonCoord=292;refseq.end=136297973;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.N292T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-33;refseq.start=136297973;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 136310628 . G A 186.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.79;MQ0=0;OQ=19866.59;QD=43.28;RankSumP=1.00000;SB=-8765.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.582C>T;refseq.codonCoord=194;refseq.end=136310628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_002299;refseq.name2=LCT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T194T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-59;refseq.start=136310628;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr2 136333380 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.273468;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1323G>T;refseq.codonCoord=441;refseq.end=136333380;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_005915;refseq.name2=MCM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E441D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-40;refseq.start=136333380;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr2 136340209 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.890T>G;refseq.codonCoord=297;refseq.end=136340209;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_005915;refseq.name2=MCM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V297G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-38;refseq.start=136340209;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr2 136435478 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.278T>G;refseq.codonCoord=93;refseq.end=136435478;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_001349;refseq.name2=DARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-43;refseq.start=136435478;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 136589037 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.943A>C;refseq.codingCoordStr_2=c.931A>C;refseq.codonCoord_1=315;refseq.codonCoord_2=311;refseq.end_1=136589037;refseq.end_2=136589037;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1247;refseq.mrnaCoord_2=1026;refseq.name2_1=CXCR4;refseq.name2_2=CXCR4;refseq.name_1=NM_001008540;refseq.name_2=NM_003467;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T315P;refseq.proteinCoordStr_2=p.T311P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-649;refseq.spliceDist_2=-649;refseq.start_1=136589037;refseq.start_2=136589037;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr2 140748558 . C T 307.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.65;MQ0=0;OQ=6680.20;QD=22.42;RankSumP=0.0362210;SB=-2135.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.13047G>A;refseq.codonCoord=4349;refseq.end=140748558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14019;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4349T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=80;refseq.start=140748558;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 140809689 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.12081A>G;refseq.codonCoord=4027;refseq.end=140809689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13053;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4027G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-36;refseq.start=140809689;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 140832917 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=3;HaplotypeScore=9.27;MQ=98.93;MQ0=0;OQ=9057.83;QD=16.50;RankSumP=0.265834;SB=-2532.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.11200C>A;refseq.codonCoord=3734;refseq.end=140832917;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12172;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3734K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-58;refseq.start=140832917;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr2 140847165 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=98.62;MQ0=0;OQ=3782.54;QD=23.21;RankSumP=0.150714;SB=-407.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.10650G>A;refseq.codonCoord=3550;refseq.end=140847165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11622;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3550E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=12;refseq.start=140847165;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 140975869 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8707T>G;refseq.codonCoord=2903;refseq.end=140975869;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9679;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2903G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=45;refseq.start=140975869;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr2 140984043 . G A 112.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.89;MQ0=0;OQ=3126.17;QD=13.59;RankSumP=0.476364;SB=-829.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.8322C>T;refseq.codonCoord=2774;refseq.end=140984043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9294;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2774C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=53;refseq.start=140984043;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr2 140991046 . T C 413.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=6518.73;QD=42.89;RankSumP=1.00000;SB=-2632.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.8031A>G;refseq.codonCoord=2677;refseq.end=140991046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9003;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2677Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=140991046;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 141287799 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=3;HaplotypeScore=10.00;MQ=98.46;MQ0=0;OQ=8060.93;QD=38.39;RankSumP=1.00000;SB=-3752.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5256A>G;refseq.codonCoord=1752;refseq.end=141287799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6228;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1752S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=47;refseq.start=141287799;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 141468062 . G A 369.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.72;MQ0=0;OQ=6087.71;QD=19.26;RankSumP=0.200595;SB=-1803.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2616C>T;refseq.codonCoord=872;refseq.end=141468062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3588;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D872D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-29;refseq.start=141468062;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr2 141533091 . A G 257.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.66;MQ0=0;OQ=8549.72;QD=42.12;RankSumP=1.00000;SB=-3310.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1239T>C;refseq.codonCoord=413;refseq.end=141533091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2211;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V413V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=141533091;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr2 142284380 . T C 134.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=98.73;MQ0=0;OQ=2550.99;QD=13.94;RankSumP=0.0780816;SB=-996.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.143A>G;refseq.codonCoord=48;refseq.end=142284380;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1115;refseq.name=NM_018557;refseq.name2=LRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q48R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=61;refseq.start=142284380;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr2 144616029 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.50;MQ0=0;OQ=726.39;QD=9.19;RankSumP=0.145791;SB=-354.31;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.411G>T;refseq.codingCoordStr_2=c.411G>T;refseq.codingCoordStr_3=c.411G>T;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.codonCoord_3=137;refseq.end_1=144616029;refseq.end_2=144616029;refseq.end_3=144616029;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=657;refseq.mrnaCoord_3=657;refseq.name2_1=GTDC1;refseq.name2_2=GTDC1;refseq.name2_3=GTDC1;refseq.name_1=NM_001006636;refseq.name_2=NM_001164629;refseq.name_3=NM_024659;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M137I;refseq.proteinCoordStr_2=p.M137I;refseq.proteinCoordStr_3=p.M137I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=144616029;refseq.start_2=144616029;refseq.start_3=144616029;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr2 144873999 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1153T>G;refseq.codingCoordStr_2=c.1225T>G;refseq.codonCoord_1=385;refseq.codonCoord_2=409;refseq.end_1=144873999;refseq.end_2=144873999;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1675;refseq.mrnaCoord_2=1747;refseq.name2_1=ZEB2;refseq.name2_2=ZEB2;refseq.name_1=NM_001171653;refseq.name_2=NM_014795;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F385V;refseq.proteinCoordStr_2=p.F409V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=309;refseq.spliceDist_2=309;refseq.start_1=144873999;refseq.start_2=144873999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 0/1 chr2 144991339 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.49C>A;refseq.codingCoordStr_3=c.49C>A;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.end_1=144991339;refseq.end_2=144991339;refseq.end_3=144991339;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=571;refseq.mrnaCoord_3=571;refseq.name2_1=ZEB2;refseq.name2_2=ZEB2;refseq.name2_3=ZEB2;refseq.name_1=NR_033258;refseq.name_2=NM_001171653;refseq.name_3=NM_014795;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q17K;refseq.proteinCoordStr_3=p.Q17K;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=144991339;refseq.start_2=144991339;refseq.start_3=144991339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 0/1 chr2 148373587 . G A 243.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1597.46;QD=19.25;RankSumP=0.430381;SB=-766.01;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.354G>A;refseq.codonCoord=118;refseq.end=148373587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_001616;refseq.name2=ACVR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P118P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-20;refseq.start=148373587;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr2 148392614 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.945A>C;refseq.codonCoord=315;refseq.end=148392614;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_001616;refseq.name2=ACVR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K315N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-18;refseq.start=148392614;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr2 148432898 . T C 144.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=912.74;QD=16.01;RankSumP=0.718582;SB=-102.96;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.233A>G;refseq.codingCoordStr_2=c.233A>G;refseq.codingCoordStr_3=c.233A>G;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.codonCoord_3=78;refseq.end_1=148432898;refseq.end_2=148432898;refseq.end_3=148432898;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=368;refseq.mrnaCoord_3=370;refseq.name2_1=ORC4L;refseq.name2_2=ORC4L;refseq.name2_3=ORC4L;refseq.name_1=NM_002552;refseq.name_2=NM_181741;refseq.name_3=NM_181742;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N78S;refseq.proteinCoordStr_2=p.N78S;refseq.proteinCoordStr_3=p.N78S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=148432898;refseq.start_2=148432898;refseq.start_3=148432898;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr2 150141222 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=554;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=98.76;MQ0=0;OQ=12745.65;QD=23.01;RankSumP=0.459084;SB=-3904.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=150141222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_015702;refseq.name2=MMADHC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q151Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-26;refseq.start=150141222;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 151836442 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=162;Dels=0.00;HRun=2;HaplotypeScore=14.13;MQ=98.37;MQ0=0;OQ=76.19;QD=0.47;RankSumP=0.00000;SB=230.77;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.685A>C;refseq.codonCoord=229;refseq.end=151836442;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_004688;refseq.name2=NMI;refseq.positionType=CDS;refseq.proteinCoordStr=p.T229P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=51;refseq.start=151836442;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 151840376 . A G 326.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=98.88;MQ0=0;OQ=4925.09;QD=16.81;RankSumP=0.160499;SB=-1941.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.502T>C;refseq.codonCoord=168;refseq.end=151840376;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=832;refseq.name=NM_004688;refseq.name2=NMI;refseq.positionType=CDS;refseq.proteinCoordStr=p.L168L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=55;refseq.start=151840376;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr2 151846768 . T C 375.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=3372.78;QD=42.69;RankSumP=1.00000;SB=-1042.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.117A>G;refseq.codonCoord=39;refseq.end=151846768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=447;refseq.name=NM_004688;refseq.name2=NMI;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q39Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=36;refseq.start=151846768;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 151847662 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=2;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=2150.08;QD=18.70;RankSumP=0.259500;SB=-920.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.47C>T;refseq.codonCoord=16;refseq.end=151847662;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_004688;refseq.name2=NMI;refseq.positionType=CDS;refseq.proteinCoordStr=p.S16L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-35;refseq.start=151847662;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr2 152019816 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=621;Dels=0.00;HRun=0;HaplotypeScore=10.52;MQ=99.00;MQ0=0;OQ=27299.69;QD=43.96;RankSumP=1.00000;SB=-10952.25;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2506G>A;refseq.codonCoord=836;refseq.end=152019816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2636;refseq.name=NM_018151;refseq.name2=RIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G836S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-104;refseq.start=152019816;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr2 152022631 . G A 280.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=12.31;MQ=98.65;MQ0=0;OQ=5220.64;QD=22.22;RankSumP=0.288241;SB=-2068.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2763G>A;refseq.codonCoord=921;refseq.end=152022631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2893;refseq.name=NM_018151;refseq.name2=RIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L921L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-93;refseq.start=152022631;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 152028364 . G A 288.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=3998.19;QD=42.99;RankSumP=1.00000;SB=-1873.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4084G>A;refseq.codonCoord=1362;refseq.end=152028364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4214;refseq.name=NM_018151;refseq.name2=RIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1362M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=721;refseq.start=152028364;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr2 152030341 . A T 289.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=98.22;MQ0=0;OQ=2871.67;QD=37.29;RankSumP=1.00000;SB=-1411.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.6061A>T;refseq.codonCoord=2021;refseq.end=152030341;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6191;refseq.name=NM_018151;refseq.name2=RIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2021Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-540;refseq.start=152030341;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr2 152039664 . C G 33.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.25;MQ0=0;OQ=5124.78;QD=50.24;RankSumP=1.00000;SB=-1395.14;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.7252C>G;refseq.codonCoord=2418;refseq.end=152039664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7382;refseq.name=NM_018151;refseq.name2=RIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2418V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=48;refseq.start=152039664;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 1/1 chr2 152698238 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.806T>G;refseq.codonCoord=269;refseq.end=152698238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_005843;refseq.name2=STAM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V269G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=152698238;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 154823798 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.876T>G;refseq.codonCoord=292;refseq.end=154823798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_052917;refseq.name2=GALNT13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G292G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=19;refseq.start=154823798;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 155263977 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.444C>A;refseq.codonCoord=148;refseq.end=155263977;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_002239;refseq.name2=KCNJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y148*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-259;refseq.start=155263977;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr2 155419603 . T C 371.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.16;MQ0=0;OQ=7068.04;QD=37.60;RankSumP=1.00000;SB=-3503.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1038T>C;refseq.codonCoord=346;refseq.end=155419603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_002239;refseq.name2=KCNJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H346H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=119;refseq.start=155419603;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr2 155419684 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=193;Dels=0.00;HRun=2;HaplotypeScore=18.13;MQ=97.62;MQ0=0;OQ=313.13;QD=1.62;RankSumP=0.00000;SB=194.65;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1119A>C;refseq.codonCoord=373;refseq.end=155419684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_002239;refseq.name2=KCNJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A373A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=200;refseq.start=155419684;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr2 157114495 . G A 423.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7280.63;QD=40.90;RankSumP=1.00000;SB=-1443.06;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.791G>A;refseq.codingCoordStr_2=c.791G>A;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=157114495;refseq.end_2=157114495;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=925;refseq.mrnaCoord_2=1151;refseq.name2_1=GPD2;refseq.name2_2=GPD2;refseq.name_1=NM_000408;refseq.name_2=NM_001083112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R264H;refseq.proteinCoordStr_2=p.R264H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=157114495;refseq.start_2=157114495;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr2 157864324 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2016T>G;refseq.codonCoord=672;refseq.end=157864324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2271;refseq.name=NM_014568;refseq.name2=GALNT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G672G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=19;refseq.start=157864324;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 157865607 . C T 429.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5136.50;QD=41.76;RankSumP=1.00000;SB=-1864.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2289C>T;refseq.codonCoord=763;refseq.end=157865607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2544;refseq.name=NM_014568;refseq.name2=GALNT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H763H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-151;refseq.start=157865607;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 158115033 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.512T>G;refseq.codingCoordStr_3=c.422T>G;refseq.codingCoordStr_4=c.662T>G;refseq.codonCoord_2=171;refseq.codonCoord_3=141;refseq.codonCoord_4=221;refseq.end_1=158151934;refseq.end_2=158115033;refseq.end_3=158115033;refseq.end_4=158115033;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=790;refseq.mrnaCoord_3=665;refseq.mrnaCoord_4=905;refseq.name2_1=ACVR1C;refseq.name2_2=ACVR1C;refseq.name2_3=ACVR1C;refseq.name2_4=ACVR1C;refseq.name_1=NM_001111033;refseq.name_2=NM_001111031;refseq.name_3=NM_001111032;refseq.name_4=NM_145259;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.V171G;refseq.proteinCoordStr_3=p.V141G;refseq.proteinCoordStr_4=p.V221G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_2=-114;refseq.spliceDist_3=-114;refseq.spliceDist_4=-114;refseq.start_1=158109381;refseq.start_2=158115033;refseq.start_3=158115033;refseq.start_4=158115033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr2 158152135 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=792.21;QD=19.81;RankSumP=0.408247;SB=-81.31;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.-37C>T;refseq.codingCoordStr_2=c.114C>T;refseq.codingCoordStr_3=c.114C>T;refseq.codingCoordStr_4=c.114C>T;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.end_1=158152135;refseq.end_2=158152135;refseq.end_3=158152135;refseq.end_4=158152135;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=242;refseq.mrnaCoord_2=357;refseq.mrnaCoord_3=357;refseq.mrnaCoord_4=357;refseq.name2_1=ACVR1C;refseq.name2_2=ACVR1C;refseq.name2_3=ACVR1C;refseq.name2_4=ACVR1C;refseq.name_1=NM_001111031;refseq.name_2=NM_001111032;refseq.name_3=NM_001111033;refseq.name_4=NM_145259;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.F38F;refseq.proteinCoordStr_3=p.F38F;refseq.proteinCoordStr_4=p.F38F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.spliceDist_4=41;refseq.start_1=158152135;refseq.start_2=158152135;refseq.start_3=158152135;refseq.start_4=158152135;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=Intersection GT 1/0 chr2 158335226 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=11.06;MQ=98.70;MQ0=0;OQ=13395.58;QD=40.72;RankSumP=1.00000;SB=-3657.65;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.690G>A;refseq.codingCoordStr_2=c.690G>A;refseq.codonCoord_1=230;refseq.codonCoord_2=230;refseq.end_1=158335226;refseq.end_2=158335226;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=939;refseq.name2_1=ACVR1;refseq.name2_2=ACVR1;refseq.name_1=NM_001105;refseq.name_2=NM_001111067;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E230E;refseq.proteinCoordStr_2=p.E230E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=158335226;refseq.start_2=158335226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr2 158345156 . G A 173.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=16.15;MQ=98.74;MQ0=0;OQ=6232.99;QD=20.50;RankSumP=0.0959558;SB=-2225.62;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.270C>T;refseq.codingCoordStr_2=c.270C>T;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=158345156;refseq.end_2=158345156;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=700;refseq.mrnaCoord_2=519;refseq.name2_1=ACVR1;refseq.name2_2=ACVR1;refseq.name_1=NM_001105;refseq.name_2=NM_001111067;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A90A;refseq.proteinCoordStr_2=p.A90A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=158345156;refseq.start_2=158345156;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr2 158874315 . T C 342.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=3.89;MQ=98.85;MQ0=0;OQ=5007.84;QD=40.06;RankSumP=1.00000;SB=-2139.54;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.728A>G;refseq.codingCoordStr_2=c.986A>G;refseq.codonCoord_1=243;refseq.codonCoord_2=329;refseq.end_1=158874315;refseq.end_2=158874315;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1074;refseq.mrnaCoord_2=1300;refseq.name2_1=CCDC148;refseq.name2_2=CCDC148;refseq.name_1=NM_001171637;refseq.name_2=NM_138803;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K243R;refseq.proteinCoordStr_2=p.K329R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=158874315;refseq.start_2=158874315;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr2 159227704 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2261A>G;refseq.codingCoordStr_2=c.2261A>G;refseq.codonCoord_1=754;refseq.codonCoord_2=754;refseq.end_1=159227704;refseq.end_2=159227704;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2521;refseq.mrnaCoord_2=2521;refseq.name2_1=PKP4;refseq.name2_2=PKP4;refseq.name_1=NM_001005476;refseq.name_2=NM_003628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E754G;refseq.proteinCoordStr_2=p.E754G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=159227704;refseq.start_2=159227704;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 159243346 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.238343;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3135C>T;refseq.codingCoordStr_2=c.3264C>T;refseq.codonCoord_1=1045;refseq.codonCoord_2=1088;refseq.end_1=159243346;refseq.end_2=159243346;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3395;refseq.mrnaCoord_2=3524;refseq.name2_1=PKP4;refseq.name2_2=PKP4;refseq.name_1=NM_001005476;refseq.name_2=NM_003628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1045S;refseq.proteinCoordStr_2=p.S1088S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=159243346;refseq.start_2=159243346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chr2 159371845 . T C 316.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=4.30;MQ=98.83;MQ0=0;OQ=11506.45;QD=38.10;RankSumP=1.00000;SB=-4051.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.179T>C;refseq.codonCoord=60;refseq.end=159371845;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_001017920;refseq.name2=DAPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L60P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-29;refseq.start=159371845;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 159380498 . G A 173.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=98.74;MQ0=0;OQ=7698.35;QD=19.06;RankSumP=0.483978;SB=-3063.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=159380498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_001017920;refseq.name2=DAPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A81A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=36;refseq.start=159380498;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr2 159662421 . C T 115.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=98.86;MQ0=0;OQ=3038.12;QD=19.48;RankSumP=0.123002;SB=-1185.14;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.88C>T;refseq.codingCoordStr_2=c.88C>T;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=159662421;refseq.end_2=159662421;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=362;refseq.mrnaCoord_2=362;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P30S;refseq.proteinCoordStr_2=p.P30S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=159662421;refseq.start_2=159662421;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr2 159728109 . A G 454.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=99.00;MQ0=0;OQ=3644.95;QD=37.97;RankSumP=1.00000;SB=-1715.70;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.749A>G;refseq.codingCoordStr_2=c.752A>G;refseq.codonCoord_1=250;refseq.codonCoord_2=251;refseq.end_1=159728109;refseq.end_2=159728109;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1026;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N250S;refseq.proteinCoordStr_2=p.N251S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=159728109;refseq.start_2=159728109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr2 159743453 . T C 257.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.35;MQ0=0;OQ=8434.14;QD=35.29;RankSumP=1.00000;SB=-3776.81;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2019T>C;refseq.codingCoordStr_2=c.2043T>C;refseq.codonCoord_1=673;refseq.codonCoord_2=681;refseq.end_1=159743453;refseq.end_2=159743453;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2293;refseq.mrnaCoord_2=2317;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N673N;refseq.proteinCoordStr_2=p.N681N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.start_1=159743453;refseq.start_2=159743453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr2 159782389 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3354+2;refseq.codingCoordStr_2=c.3378+2;refseq.end_1=159782389;refseq.end_2=159782389;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=159782389;refseq.start_2=159782389;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr2 159789072 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3738C>G;refseq.codingCoordStr_2=c.3762C>G;refseq.codonCoord_1=1246;refseq.codonCoord_2=1254;refseq.end_1=159789072;refseq.end_2=159789072;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4012;refseq.mrnaCoord_2=4036;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C1246W;refseq.proteinCoordStr_2=p.C1254W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=159789072;refseq.start_2=159789072;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr2 159792719 . A C 58.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=98.82;MQ0=0;OQ=8877.35;QD=22.19;RankSumP=0.00000;SB=-3693.78;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4023A>C;refseq.codingCoordStr_2=c.4047A>C;refseq.codonCoord_1=1341;refseq.codonCoord_2=1349;refseq.end_1=159792719;refseq.end_2=159792719;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4297;refseq.mrnaCoord_2=4321;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1341T;refseq.proteinCoordStr_2=p.T1349T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=159792719;refseq.start_2=159792719;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 0/1 chr2 159794899 . C T 225.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=12.02;MQ=98.61;MQ0=0;OQ=4667.54;QD=17.88;RankSumP=0.0584315;SB=-1577.73;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*524C>T;refseq.codingCoordStr_2=c.4716C>T;refseq.codonCoord_2=1572;refseq.end_1=159794899;refseq.end_2=159794899;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4971;refseq.mrnaCoord_2=4990;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A1572A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=565;refseq.spliceDist_2=565;refseq.start_1=159794899;refseq.start_2=159794899;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr2 159794900 . A G 201.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=12.83;MQ=98.62;MQ0=0;OQ=4589.28;QD=17.25;RankSumP=0.390204;SB=-1454.38;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*525A>G;refseq.codingCoordStr_2=c.4717A>G;refseq.codonCoord_2=1573;refseq.end_1=159794900;refseq.end_2=159794900;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4972;refseq.mrnaCoord_2=4991;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1573A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=566;refseq.spliceDist_2=566;refseq.start_1=159794900;refseq.start_2=159794900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr2 159794938 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=256;Dels=0.00;HRun=2;HaplotypeScore=10.39;MQ=98.68;MQ0=0;OQ=2807.83;QD=10.97;RankSumP=0.240614;SB=-1420.03;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*563A>G;refseq.codingCoordStr_2=c.4755A>G;refseq.codonCoord_2=1585;refseq.end_1=159794938;refseq.end_2=159794938;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5010;refseq.mrnaCoord_2=5029;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1585T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=604;refseq.spliceDist_2=604;refseq.start_1=159794938;refseq.start_2=159794938;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr2 159794989 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*614C>G;refseq.codingCoordStr_2=c.4806C>G;refseq.codonCoord_2=1602;refseq.end_1=159794989;refseq.end_2=159794989;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5061;refseq.mrnaCoord_2=5080;refseq.name2_1=TANC1;refseq.name2_2=TANC1;refseq.name_1=NM_001145909;refseq.name_2=NM_033394;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G1602G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=655;refseq.spliceDist_2=655;refseq.start_1=159794989;refseq.start_2=159794989;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr2 159821127 . G T 328.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.66;MQ0=0;OQ=4090.78;QD=18.68;RankSumP=0.353194;SB=-1074.93;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.958C>A;refseq.codingCoordStr_2=c.958C>A;refseq.codingCoordStr_3=c.958C>A;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.codonCoord_3=320;refseq.end_1=159821127;refseq.end_2=159821127;refseq.end_3=159821127;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1125;refseq.mrnaCoord_2=1215;refseq.mrnaCoord_3=1107;refseq.name2_1=WDSUB1;refseq.name2_2=WDSUB1;refseq.name2_3=WDSUB1;refseq.name_1=NM_001128212;refseq.name_2=NM_001128213;refseq.name_3=NM_152528;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R320S;refseq.proteinCoordStr_2=p.R320S;refseq.proteinCoordStr_3=p.R320S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=159821127;refseq.start_2=159821127;refseq.start_3=159821127;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr2 159844583 . G A 269.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.83;MQ0=0;OQ=14135.49;QD=42.32;RankSumP=1.00000;SB=-6708.31;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.518C>T;refseq.codingCoordStr_2=c.518C>T;refseq.codingCoordStr_3=c.518C>T;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.codonCoord_3=173;refseq.end_1=159844583;refseq.end_2=159844583;refseq.end_3=159844583;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=685;refseq.mrnaCoord_2=775;refseq.mrnaCoord_3=667;refseq.name2_1=WDSUB1;refseq.name2_2=WDSUB1;refseq.name2_3=WDSUB1;refseq.name_1=NM_001128212;refseq.name_2=NM_001128213;refseq.name_3=NM_152528;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P173L;refseq.proteinCoordStr_2=p.P173L;refseq.proteinCoordStr_3=p.P173L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.start_1=159844583;refseq.start_2=159844583;refseq.start_3=159844583;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr2 160003376 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.977A>C;refseq.codonCoord=326;refseq.end=160003376;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_013450;refseq.name2=BAZ2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H326P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=77;refseq.start=160003376;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 160312698 . C T 220.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=6.89;MQ=98.79;MQ0=0;OQ=6533.77;QD=21.64;RankSumP=0.361649;SB=-2289.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.651C>T;refseq.codonCoord=217;refseq.end=160312698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_022826;refseq.name2=MARCH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D217D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=137;refseq.start=160312698;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr2 160313514 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=3;HaplotypeScore=5.64;MQ=98.48;MQ0=0;OQ=3099.67;QD=17.41;RankSumP=0.138043;SB=-1534.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1467T>C;refseq.codonCoord=489;refseq.end=160313514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1589;refseq.name=NM_022826;refseq.name2=MARCH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P489P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-147;refseq.start=160313514;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr2 160381772 . A G 230.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.75;MQ0=0;OQ=2059.80;QD=17.46;RankSumP=0.354599;SB=-392.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4171T>C;refseq.codonCoord=1391;refseq.end=160381772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4240;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1391H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=18;refseq.start=160381772;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr2 160384596 . T C 120.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=95.74;MQ0=0;OQ=1887.95;QD=14.87;RankSumP=0.251015;SB=-606.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4040A>G;refseq.codonCoord=1347;refseq.end=160384596;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4109;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1347R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=82;refseq.start=160384596;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr2 160384673 . C A 305.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=93.39;MQ0=0;OQ=4296.24;QD=39.42;RankSumP=1.00000;SB=-1179.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3963G>T;refseq.codonCoord=1321;refseq.end=160384673;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4032;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1321N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=160384673;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 160419168 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=22.90;MQ=98.79;MQ0=0;OQ=7549.45;QD=20.85;RankSumP=0.277207;SB=-1745.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2544A>G;refseq.codonCoord=848;refseq.end=160419168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2613;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.A848A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-52;refseq.start=160419168;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr2 160419291 . G C 196.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=1882.88;QD=15.96;RankSumP=0.475966;SB=-316.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2421C>G;refseq.codonCoord=807;refseq.end=160419291;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2490;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.D807E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=160419291;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr2 160451286 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=1720.24;QD=13.03;RankSumP=0.0453613;SB=-214.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.804A>T;refseq.codonCoord=268;refseq.end=160451286;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_002349;refseq.name2=LY75;refseq.positionType=CDS;refseq.proteinCoordStr=p.E268D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=160451286;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr2 160516321 . C T 312.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=14.23;MQ=98.91;MQ0=0;OQ=6349.66;QD=20.29;RankSumP=0.214380;SB=-2499.62;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3316G>A;refseq.codingCoordStr_2=c.3316G>A;refseq.codonCoord_1=1106;refseq.codonCoord_2=1106;refseq.end_1=160516321;refseq.end_2=160516321;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3523;refseq.mrnaCoord_2=3523;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1106S;refseq.proteinCoordStr_2=p.G1106S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=160516321;refseq.start_2=160516321;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr2 160516322 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=314;Dels=0.00;HRun=0;HaplotypeScore=13.91;MQ=98.91;MQ0=0;OQ=7056.45;QD=22.47;RankSumP=0.0804514;SB=-2976.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3315C>T;refseq.codingCoordStr_2=c.3315C>T;refseq.codonCoord_1=1105;refseq.codonCoord_2=1105;refseq.end_1=160516322;refseq.end_2=160516322;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3522;refseq.mrnaCoord_2=3522;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1105H;refseq.proteinCoordStr_2=p.H1105H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=160516322;refseq.start_2=160516322;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr2 160570452 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1791A>C;refseq.codingCoordStr_2=c.1791A>C;refseq.codonCoord_1=597;refseq.codonCoord_2=597;refseq.end_1=160570452;refseq.end_2=160570452;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1998;refseq.mrnaCoord_2=1998;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K597N;refseq.proteinCoordStr_2=p.K597N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=160570452;refseq.start_2=160570452;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr2 160606829 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=701;Dels=0.00;HRun=2;HaplotypeScore=63.47;MQ=98.14;MQ0=0;OQ=553.85;QD=0.79;RankSumP=0.00000;SB=935.11;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.620C>A;refseq.codingCoordStr_2=c.620C>A;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=160606829;refseq.end_2=160606829;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=827;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T207K;refseq.proteinCoordStr_2=p.T207K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=160606829;refseq.start_2=160606829;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr2 160609763 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=14.96;MQ=98.41;MQ0=0;OQ=2082.15;QD=10.96;RankSumP=0.0153716;SB=-835.24;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.261T>C;refseq.codingCoordStr_2=c.261T>C;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=160609763;refseq.end_2=160609763;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=468;refseq.mrnaCoord_2=468;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S87S;refseq.proteinCoordStr_2=p.S87S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=152;refseq.spliceDist_2=152;refseq.start_1=160609763;refseq.start_2=160609763;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr2 160627050 . A C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.333333;SecondBestBaseQ=34;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.109+2;refseq.codingCoordStr_2=c.109+2;refseq.end_1=160627050;refseq.end_2=160627050;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=PLA2R1;refseq.name2_2=PLA2R1;refseq.name_1=NM_001007267;refseq.name_2=NM_007366;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=160627050;refseq.start_2=160627050;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr2 160676874 . A G 162.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=670;Dels=0.00;HRun=0;HaplotypeScore=20.90;MQ=98.69;MQ0=0;OQ=12839.38;QD=19.16;RankSumP=0.238871;SB=-3354.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2064T>C;refseq.codonCoord=688;refseq.end=160676874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2080;refseq.name=NM_000888;refseq.name2=ITGB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N688N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-38;refseq.start=160676874;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr2 160733999 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.307280;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.987T>C;refseq.codonCoord=329;refseq.end=160733999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_000888;refseq.name2=ITGB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A329A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-31;refseq.start=160733999;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr2 161769448 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.225T>G;refseq.codingCoordStr_2=c.225T>G;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=161769448;refseq.end_2=161769448;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=383;refseq.name2_1=TANK;refseq.name2_2=TANK;refseq.name_1=NM_004180;refseq.name_2=NM_133484;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C75W;refseq.proteinCoordStr_2=p.C75W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=161769448;refseq.start_2=161769448;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr2 162587518 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1061T>G;refseq.codonCoord=354;refseq.end=162587518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1622;refseq.name=NM_001935;refseq.name2=DPP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V354G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=162587518;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr2 162598354 . C G 135.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=3.70;MQ=98.51;MQ0=0;OQ=4400.15;QD=15.49;RankSumP=0.323017;SB=-1095.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.830G>C;refseq.codonCoord=277;refseq.end=162598354;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1391;refseq.name=NM_001935;refseq.name2=DPP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S277T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=56;refseq.start=162598354;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr2 162598388 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=97.93;MQ0=0;OQ=1288.94;QD=9.41;RankSumP=0.121063;SB=-251.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.796G>A;refseq.codonCoord=266;refseq.end=162598388;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1357;refseq.name=NM_001935;refseq.name2=DPP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V266I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=22;refseq.start=162598388;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr2 162638225 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=394;Dels=0.00;HRun=1;HaplotypeScore=13.15;MQ=98.57;MQ0=0;OQ=15002.03;QD=38.08;RankSumP=1.00000;SB=-5448.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.24T>C;refseq.codonCoord=8;refseq.end=162638225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_001935;refseq.name2=DPP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=18;refseq.start=162638225;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr2 162832297 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=3;HaplotypeScore=8.24;MQ=98.65;MQ0=0;OQ=6236.45;QD=20.25;RankSumP=0.323454;SB=-1934.31;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2836G>A;refseq.codonCoord=946;refseq.end=162832297;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3058;refseq.name=NM_022168;refseq.name2=IFIH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A946T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=29;refseq.start=162832297;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 162837070 . T C 101 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.59;MQ0=0;OQ=2259.12;QD=12.62;RankSumP=0.495481;SB=-623.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2528A>G;refseq.codonCoord=843;refseq.end=162837070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2750;refseq.name=NM_022168;refseq.name2=IFIH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H843R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=74;refseq.start=162837070;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr2 162844751 . C G 108.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1846.26;QD=14.65;RankSumP=0.386872;SB=-710.94;SecondBestBaseQ=33;refseq.chr=chr2;refseq.codingCoordStr=c.1641+1;refseq.end=162844751;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_022168;refseq.name2=IFIH1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=162844751;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr2 162852967 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1019T>G;refseq.codonCoord=340;refseq.end=162852967;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1241;refseq.name=NM_022168;refseq.name2=IFIH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V340G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-77;refseq.start=162852967;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr2 165184499 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3908.68;QD=20.90;RankSumP=0.486726;SB=-1375.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.268T>A;refseq.codonCoord=90;refseq.end=165184499;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_004490;refseq.name2=GRB14;refseq.positionType=CDS;refseq.proteinCoordStr=p.F90I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-57;refseq.start=165184499;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr2 165294712 . T C 320.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.92;MQ0=0;OQ=4235.30;QD=17.01;RankSumP=0.427141;SB=-1163.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.390A>G;refseq.codonCoord=130;refseq.end=165294712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_014900;refseq.name2=COBLL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P130P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-43;refseq.start=165294712;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr2 165702722 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=405;Dels=0.00;HRun=0;HaplotypeScore=11.48;MQ=98.98;MQ0=0;OQ=7737.47;QD=19.10;RankSumP=0.120723;SB=-2438.83;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2157T>C;refseq.codingCoordStr_2=c.2157T>C;refseq.codingCoordStr_3=c.2304T>C;refseq.codonCoord_1=719;refseq.codonCoord_2=719;refseq.codonCoord_3=768;refseq.end_1=165702722;refseq.end_2=165702722;refseq.end_3=165702722;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2649;refseq.mrnaCoord_2=2649;refseq.mrnaCoord_3=2796;refseq.name2_1=SCN3A;refseq.name2_2=SCN3A;refseq.name2_3=SCN3A;refseq.name_1=NM_001081676;refseq.name_2=NM_001081677;refseq.name_3=NM_006922;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I719I;refseq.proteinCoordStr_2=p.I719I;refseq.proteinCoordStr_3=p.I768I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=165702722;refseq.start_2=165702722;refseq.start_3=165702722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr2 165953929 . T C 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.0558556;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.5367T>C;refseq.codingCoordStr_2=c.5367T>C;refseq.codingCoordStr_3=c.5367T>C;refseq.codonCoord_1=1789;refseq.codonCoord_2=1789;refseq.codonCoord_3=1789;refseq.end_1=165953929;refseq.end_2=165953929;refseq.end_3=165953929;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5657;refseq.mrnaCoord_2=5418;refseq.mrnaCoord_3=5723;refseq.name2_1=SCN2A;refseq.name2_2=SCN2A;refseq.name2_3=SCN2A;refseq.name_1=NM_001040142;refseq.name_2=NM_001040143;refseq.name_3=NM_021007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1789P;refseq.proteinCoordStr_2=p.P1789P;refseq.proteinCoordStr_3=p.P1789P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=545;refseq.spliceDist_2=545;refseq.spliceDist_3=545;refseq.start_1=165953929;refseq.start_2=165953929;refseq.start_3=165953929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=soap GT 1/0 chr2 166244164 . C T 347.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1671.40;QD=40.77;RankSumP=1.00000;SB=-439.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1413C>T;refseq.codingCoordStr_2=c.1413C>T;refseq.codonCoord_1=471;refseq.codonCoord_2=471;refseq.end_1=166244164;refseq.end_2=166244164;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1789;refseq.mrnaCoord_2=1688;refseq.name2_1=CSRNP3;refseq.name2_2=CSRNP3;refseq.name_1=NM_001172173;refseq.name_2=NM_024969;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T471T;refseq.proteinCoordStr_2=p.T471T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=708;refseq.spliceDist_2=708;refseq.start_1=166244164;refseq.start_2=166244164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr2 166496582 . T C 121.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=98.96;MQ0=0;OQ=8552.07;QD=43.19;RankSumP=1.00000;SB=-2962.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.826A>G;refseq.codonCoord=276;refseq.end=166496582;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_024753;refseq.name2=TTC21B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T276A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=31;refseq.start=166496582;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr2 166505892 . C T 310.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=98.41;MQ0=0;OQ=11332.76;QD=41.82;RankSumP=1.00000;SB=-4306.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.601G>A;refseq.codonCoord=201;refseq.end=166505892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_024753;refseq.name2=TTC21B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V201M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=49;refseq.start=166505892;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr2 166601034 . C T 271.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.84;MQ0=0;OQ=4991.51;QD=43.03;RankSumP=1.00000;SB=-1419.86;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3199G>A;refseq.codingCoordStr_2=c.3115G>A;refseq.codingCoordStr_3=c.3166G>A;refseq.codonCoord_1=1067;refseq.codonCoord_2=1039;refseq.codonCoord_3=1056;refseq.end_1=166601034;refseq.end_2=166601034;refseq.end_3=166601034;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3217;refseq.mrnaCoord_2=3133;refseq.mrnaCoord_3=3184;refseq.name2_1=SCN1A;refseq.name2_2=SCN1A;refseq.name2_3=SCN1A;refseq.name_1=NM_001165963;refseq.name_2=NM_001165964;refseq.name_3=NM_006920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1067T;refseq.proteinCoordStr_2=p.A1039T;refseq.proteinCoordStr_3=p.A1056T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-231;refseq.spliceDist_2=-231;refseq.spliceDist_3=-231;refseq.start_1=166601034;refseq.start_2=166601034;refseq.start_3=166601034;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr2 166606110 . A G 409.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=98.76;MQ0=0;OQ=7812.08;QD=38.29;RankSumP=1.00000;SB=-2969.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2292T>C;refseq.codingCoordStr_2=c.2208T>C;refseq.codingCoordStr_3=c.2259T>C;refseq.codonCoord_1=764;refseq.codonCoord_2=736;refseq.codonCoord_3=753;refseq.end_1=166606110;refseq.end_2=166606110;refseq.end_3=166606110;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2310;refseq.mrnaCoord_2=2226;refseq.mrnaCoord_3=2277;refseq.name2_1=SCN1A;refseq.name2_2=SCN1A;refseq.name2_3=SCN1A;refseq.name_1=NM_001165963;refseq.name_2=NM_001165964;refseq.name_3=NM_006920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V764V;refseq.proteinCoordStr_2=p.V736V;refseq.proteinCoordStr_3=p.V753V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=166606110;refseq.start_2=166606110;refseq.start_3=166606110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr2 166611691 . T C 275.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=93.71;MQ0=1;OQ=16389.32;QD=39.88;RankSumP=1.00000;SB=-6493.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1212A>G;refseq.codingCoordStr_2=c.1212A>G;refseq.codingCoordStr_3=c.1212A>G;refseq.codonCoord_1=404;refseq.codonCoord_2=404;refseq.codonCoord_3=404;refseq.end_1=166611691;refseq.end_2=166611691;refseq.end_3=166611691;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1230;refseq.mrnaCoord_3=1230;refseq.name2_1=SCN1A;refseq.name2_2=SCN1A;refseq.name2_3=SCN1A;refseq.name_1=NM_001165963;refseq.name_2=NM_001165964;refseq.name_3=NM_006920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V404V;refseq.proteinCoordStr_2=p.V404V;refseq.proteinCoordStr_3=p.V404V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=166611691;refseq.start_2=166611691;refseq.start_3=166611691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr2 166612467 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=324;Dels=0.00;HRun=1;HaplotypeScore=86.32;MQ=98.77;MQ0=0;OQ=169.93;QD=0.52;RankSumP=0.00000;SB=649.14;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1086C>A;refseq.codingCoordStr_2=c.1086C>A;refseq.codingCoordStr_3=c.1086C>A;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.codonCoord_3=362;refseq.end_1=166612467;refseq.end_2=166612467;refseq.end_3=166612467;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1104;refseq.mrnaCoord_2=1104;refseq.mrnaCoord_3=1104;refseq.name2_1=SCN1A;refseq.name2_2=SCN1A;refseq.name2_3=SCN1A;refseq.name_1=NM_001165963;refseq.name_2=NM_001165964;refseq.name_3=NM_006920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y362*;refseq.proteinCoordStr_2=p.Y362*;refseq.proteinCoordStr_3=p.Y362*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=166612467;refseq.start_2=166612467;refseq.start_3=166612467;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 0/1 chr2 167810100 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=334;Dels=0.00;HRun=3;HaplotypeScore=16.92;MQ=98.67;MQ0=0;OQ=340.89;QD=1.02;RankSumP=0.00000;SB=531.74;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.3952A>C;refseq.codonCoord_2=1318;refseq.end_1=167818777;refseq.end_2=167810100;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3970;refseq.name2_1=XIRP2;refseq.name2_2=XIRP2;refseq.name_1=NM_001079810;refseq.name_2=NM_152381;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1318P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=2776;refseq.start_1=167806677;refseq.start_2=167810100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr2 169429623 . G A 239.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=98.71;MQ0=0;OQ=6441.27;QD=21.47;RankSumP=0.375207;SB=-2207.24;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1418G>A;refseq.codingCoordStr_2=c.1589G>A;refseq.codingCoordStr_3=c.1334G>A;refseq.codingCoordStr_4=c.1184G>A;refseq.codonCoord_1=473;refseq.codonCoord_2=530;refseq.codonCoord_3=445;refseq.codonCoord_4=395;refseq.end_1=169429623;refseq.end_2=169429623;refseq.end_3=169429623;refseq.end_4=169429623;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1475;refseq.mrnaCoord_2=2347;refseq.mrnaCoord_3=1391;refseq.mrnaCoord_4=1382;refseq.name2_1=NOSTRIN;refseq.name2_2=NOSTRIN;refseq.name2_3=NOSTRIN;refseq.name2_4=NOSTRIN;refseq.name_1=NM_001039724;refseq.name_2=NM_001171631;refseq.name_3=NM_001171632;refseq.name_4=NM_052946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G473E;refseq.proteinCoordStr_2=p.G530E;refseq.proteinCoordStr_3=p.G445E;refseq.proteinCoordStr_4=p.G395E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.start_1=169429623;refseq.start_2=169429623;refseq.start_3=169429623;refseq.start_4=169429623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr2 169472422 . G C 187.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.51;MQ0=0;OQ=5699.10;QD=23.65;RankSumP=0.0802431;SB=-1443.03;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*74G>C;refseq.codingCoordStr_2=c.655G>C;refseq.codonCoord_2=219;refseq.end_1=169472422;refseq.end_2=169472422;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=631;refseq.mrnaCoord_2=747;refseq.name2_1=G6PC2;refseq.name2_2=G6PC2;refseq.name_1=NM_001081686;refseq.name_2=NM_021176;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V219L;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=169472422;refseq.start_2=169472422;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr2 169472792 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=12.21;MQ=98.63;MQ0=0;OQ=11380.79;QD=24.69;RankSumP=0.462788;SB=-4596.02;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*444C>G;refseq.codingCoordStr_2=c.1025C>G;refseq.codonCoord_2=342;refseq.end_1=169472792;refseq.end_2=169472792;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1001;refseq.mrnaCoord_2=1117;refseq.name2_1=G6PC2;refseq.name2_2=G6PC2;refseq.name_1=NM_001081686;refseq.name_2=NM_021176;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S342C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=469;refseq.spliceDist_2=469;refseq.start_1=169472792;refseq.start_2=169472792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr2 169705297 . G A 234.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=6.89;MQ=98.55;MQ0=0;OQ=4469.81;QD=18.32;RankSumP=0.418392;SB=-1219.34;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.13113C>T;refseq.codonCoord=4371;refseq.end=169705297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13326;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4371I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=169705297;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr2 169711678 . T G 397.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=3428.88;QD=39.87;RankSumP=1.00000;SB=-940.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12628A>C;refseq.codonCoord=4210;refseq.end=169711678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12841;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4210L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=38;refseq.start=169711678;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr2 169719231 . T C 369.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.83;MQ0=0;OQ=9923.57;QD=39.07;RankSumP=1.00000;SB=-3945.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.12280A>G;refseq.codonCoord=4094;refseq.end=169719231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12493;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4094E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-16;refseq.start=169719231;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 169733329 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=19.89;MQ=98.65;MQ0=0;OQ=2890.18;QD=12.85;RankSumP=0.299495;SB=-1064.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.11601T>C;refseq.codonCoord=3867;refseq.end=169733329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11814;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C3867C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-35;refseq.start=169733329;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr2 169741235 . C T 125.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.81;MQ0=0;OQ=3994.35;QD=18.67;RankSumP=0.144008;SB=-938.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.10503G>A;refseq.codonCoord=3501;refseq.end=169741235;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10716;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3501Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-69;refseq.start=169741235;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 169750536 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.9568A>C;refseq.codonCoord=3190;refseq.end=169750536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9781;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3190P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=240;refseq.start=169750536;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 169768758 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.7985G>C;refseq.codonCoord=2662;refseq.end=169768758;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8198;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2662S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-21;refseq.start=169768758;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr2 169778594 . T C 211.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=8.16;MQ=98.88;MQ0=0;OQ=4914.58;QD=18.13;RankSumP=0.227606;SB=-1250.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5859A>G;refseq.codonCoord=1953;refseq.end=169778594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6072;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1953R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=33;refseq.start=169778594;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr2 169796597 . G A 192.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=99.00;MQ0=0;OQ=1217.54;QD=15.22;RankSumP=0.333952;SB=-402.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5100C>T;refseq.codonCoord=1700;refseq.end=169796597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5313;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1700S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=169796597;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr2 169800641 . A G 224.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=9.61;MQ=98.75;MQ0=0;OQ=4683.82;QD=16.49;RankSumP=0.148959;SB=-1887.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4875T>C;refseq.codonCoord=1625;refseq.end=169800641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5088;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1625C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-46;refseq.start=169800641;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr2 169807719 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=807;Dels=0.00;HRun=2;HaplotypeScore=27.88;MQ=98.67;MQ0=0;OQ=15279.18;QD=18.93;RankSumP=0.380783;SB=-5870.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3660A>G;refseq.codonCoord=1220;refseq.end=169807719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3873;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1220A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=169807719;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr2 169811582 . T C 173.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=98.64;MQ0=0;OQ=2610.89;QD=14.67;RankSumP=0.399640;SB=-1273.46;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3069A>G;refseq.codonCoord=1023;refseq.end=169811582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3282;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1023T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-122;refseq.start=169811582;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 169811597 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=2;HaplotypeScore=8.60;MQ=98.76;MQ0=0;OQ=2471.62;QD=15.07;RankSumP=0.480210;SB=-1235.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3054C>A;refseq.codonCoord=1018;refseq.end=169811597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3267;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1018T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-137;refseq.start=169811597;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 169823834 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=591;Dels=0.00;HRun=1;HaplotypeScore=21.58;MQ=99.00;MQ0=0;OQ=10018.71;QD=16.95;RankSumP=0.178022;SB=-3815.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2460A>G;refseq.codonCoord=820;refseq.end=169823834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2673;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T820T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-54;refseq.start=169823834;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 169823918 . A G 243.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=11.47;MQ=98.65;MQ0=0;OQ=5516.71;QD=17.91;RankSumP=0.370235;SB=-1972.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2376T>C;refseq.codonCoord=792;refseq.end=169823918;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2589;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D792D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=56;refseq.start=169823918;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr2 169837774 . G A 279.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=98.85;MQ0=0;OQ=4533.09;QD=18.13;RankSumP=0.395493;SB=-1538.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2025C>T;refseq.codonCoord=675;refseq.end=169837774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2238;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V675V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=50;refseq.start=169837774;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr2 169853877 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.947A>C;refseq.codonCoord=316;refseq.end=169853877;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N316T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=25;refseq.start=169853877;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 169927093 . C G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=90.04;MQ0=0;OQ=418.57;QD=38.05;RankSumP=1.00000;SB=-105.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.63G>C;refseq.codonCoord=21;refseq.end=169927093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_004525;refseq.name2=LRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-17;refseq.start=169927093;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 170075345 . G A 145.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=1129.37;QD=18.51;RankSumP=0.253695;SB=-487.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.811G>A;refseq.codonCoord=271;refseq.end=170075345;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_006063;refseq.name2=KBTBD10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A271T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-300;refseq.start=170075345;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 170096186 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=1202.50;QD=15.82;RankSumP=0.0485129;SB=-585.06;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2249C>T;refseq.codonCoord=750;refseq.end=170096186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2637;refseq.name=NM_024622;refseq.name2=FASTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A750V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=61;refseq.start=170096186;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr2 170110990 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1685T>G;refseq.codonCoord=562;refseq.end=170110990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2073;refseq.name=NM_024622;refseq.name2=FASTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V562G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-17;refseq.start=170110990;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr2 170111276 . T C 349.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=10.61;MQ=98.72;MQ0=0;OQ=5630.22;QD=17.87;RankSumP=0.238906;SB=-2183.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1399A>G;refseq.codonCoord=467;refseq.end=170111276;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1787;refseq.name=NM_024622;refseq.name2=FASTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M467V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=185;refseq.start=170111276;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 170119939 . T C 202.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1536.98;QD=20.49;RankSumP=0.463394;SB=-578.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1155A>G;refseq.codonCoord=385;refseq.end=170119939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_024622;refseq.name2=FASTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L385L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-60;refseq.start=170119939;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr2 170201349 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.89;MQ0=0;OQ=865.43;QD=14.19;RankSumP=0.683905;SB=-442.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1335T>A;refseq.codonCoord=445;refseq.end=170201349;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_004792;refseq.name2=PPIG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D445E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=181;refseq.start=170201349;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 170202109 . A G 219.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=97.55;MQ0=0;OQ=1908.13;QD=20.30;RankSumP=0.457347;SB=-387.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2095A>G;refseq.codonCoord=699;refseq.end=170202109;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2315;refseq.name=NM_004792;refseq.name2=PPIG;refseq.positionType=CDS;refseq.proteinCoordStr=p.N699D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-392;refseq.start=170202109;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr2 170266343 . A G 114.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=1;HaplotypeScore=8.69;MQ=98.89;MQ0=0;OQ=7251.36;QD=20.09;RankSumP=0.298349;SB=-2391.13;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.616A>G;refseq.codonCoord_2=206;refseq.end_1=170299758;refseq.end_2=170266343;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1004;refseq.name2_1=KLHL23;refseq.name2_2=PHOSPHO2;refseq.name_1=NM_144711;refseq.name_2=NM_001008489;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K206E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-123;refseq.start_1=170262298;refseq.start_2=170266343;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr2 170314227 . C T 434.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=99.00;MQ0=0;OQ=9270.82;QD=40.66;RankSumP=1.00000;SB=-2210.45;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1416C>T;refseq.codonCoord=472;refseq.end=170314227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1754;refseq.name=NM_144711;refseq.name2=KLHL23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G472G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=50;refseq.start=170314227;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr2 170765033 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.314T>G;refseq.codingCoordStr_2=c.314T>G;refseq.codingCoordStr_3=c.314T>G;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.end_1=170765033;refseq.end_2=170765033;refseq.end_3=170765033;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=457;refseq.mrnaCoord_3=457;refseq.name2_1=MYO3B;refseq.name2_2=MYO3B;refseq.name2_3=MYO3B;refseq.name_1=NM_001083615;refseq.name_2=NM_001171642;refseq.name_3=NM_138995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V105G;refseq.proteinCoordStr_2=p.V105G;refseq.proteinCoordStr_3=p.V105G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=170765033;refseq.start_2=170765033;refseq.start_3=170765033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr2 170969033 . G A 453.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.87;MQ0=0;OQ=5758.84;QD=40.84;RankSumP=1.00000;SB=-2545.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2308G>A;refseq.codingCoordStr_2=c.2308G>A;refseq.codingCoordStr_3=c.2308G>A;refseq.codonCoord_1=770;refseq.codonCoord_2=770;refseq.codonCoord_3=770;refseq.end_1=170969033;refseq.end_2=170969033;refseq.end_3=170969033;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2451;refseq.mrnaCoord_2=2451;refseq.mrnaCoord_3=2451;refseq.name2_1=MYO3B;refseq.name2_2=MYO3B;refseq.name2_3=MYO3B;refseq.name_1=NM_001083615;refseq.name_2=NM_001171642;refseq.name_3=NM_138995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V770I;refseq.proteinCoordStr_2=p.V770I;refseq.proteinCoordStr_3=p.V770I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=170969033;refseq.start_2=170969033;refseq.start_3=170969033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/1 chr2 170969066 . T C 354.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.80;MQ0=0;OQ=6097.28;QD=40.92;RankSumP=1.00000;SB=-2566.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2341T>C;refseq.codingCoordStr_2=c.2341T>C;refseq.codingCoordStr_3=c.2341T>C;refseq.codonCoord_1=781;refseq.codonCoord_2=781;refseq.codonCoord_3=781;refseq.end_1=170969066;refseq.end_2=170969066;refseq.end_3=170969066;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2484;refseq.mrnaCoord_2=2484;refseq.mrnaCoord_3=2484;refseq.name2_1=MYO3B;refseq.name2_2=MYO3B;refseq.name2_3=MYO3B;refseq.name_1=NM_001083615;refseq.name_2=NM_001171642;refseq.name_3=NM_138995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L781L;refseq.proteinCoordStr_2=p.L781L;refseq.proteinCoordStr_3=p.L781L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=170969066;refseq.start_2=170969066;refseq.start_3=170969066;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr2 171063444 . A G 369.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=2952.51;QD=41.01;RankSumP=1.00000;SB=-675.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3111A>G;refseq.codingCoordStr_2=c.3111A>G;refseq.codingCoordStr_3=c.3111A>G;refseq.codonCoord_1=1037;refseq.codonCoord_2=1037;refseq.codonCoord_3=1037;refseq.end_1=171063444;refseq.end_2=171063444;refseq.end_3=171063444;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3254;refseq.mrnaCoord_2=3254;refseq.mrnaCoord_3=3254;refseq.name2_1=MYO3B;refseq.name2_2=MYO3B;refseq.name2_3=MYO3B;refseq.name_1=NM_001083615;refseq.name_2=NM_001171642;refseq.name_3=NM_138995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1037V;refseq.proteinCoordStr_2=p.V1037V;refseq.proteinCoordStr_3=p.V1037V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=171063444;refseq.start_2=171063444;refseq.start_3=171063444;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr2 171064520 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=339;Dels=0.00;HRun=4;HaplotypeScore=13.37;MQ=98.54;MQ0=0;OQ=12651.92;QD=37.32;RankSumP=1.00000;SB=-6125.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3245G>A;refseq.codingCoordStr_2=c.3245G>A;refseq.codingCoordStr_3=c.3245G>A;refseq.codonCoord_1=1082;refseq.codonCoord_2=1082;refseq.codonCoord_3=1082;refseq.end_1=171064520;refseq.end_2=171064520;refseq.end_3=171064520;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3388;refseq.mrnaCoord_2=3388;refseq.mrnaCoord_3=3388;refseq.name2_1=MYO3B;refseq.name2_2=MYO3B;refseq.name2_3=MYO3B;refseq.name_1=NM_001083615;refseq.name_2=NM_001171642;refseq.name_3=NM_138995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1082K;refseq.proteinCoordStr_2=p.R1082K;refseq.proteinCoordStr_3=p.R1082K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=171064520;refseq.start_2=171064520;refseq.start_3=171064520;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr2 171281186 . G A 151.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.18;MQ0=0;OQ=790.92;QD=18.39;RankSumP=0.351895;SB=-369.92;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.223G>A;refseq.codonCoord=75;refseq.end=171281186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001003845;refseq.name2=SP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A75T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=172;refseq.start=171281186;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr2 171281431 . G T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=156.36;QD=11.17;RankSumP=0.325177;SB=-7.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.468G>T;refseq.codonCoord=156;refseq.end=171281431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_001003845;refseq.name2=SP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P156P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=417;refseq.start=171281431;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr2 171386871 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.70;MQ0=0;OQ=1175.05;QD=14.33;RankSumP=0.215409;SB=-538.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.111T>C;refseq.codingCoordStr_2=c.111T>C;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=171386871;refseq.end_2=171386871;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=533;refseq.mrnaCoord_2=537;refseq.name2_1=GAD1;refseq.name2_2=GAD1;refseq.name_1=NM_000817;refseq.name_2=NM_013445;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H37H;refseq.proteinCoordStr_2=p.H37H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=171386871;refseq.start_2=171386871;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr2 171424568 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1715A>C;refseq.codonCoord=572;refseq.end=171424568;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2137;refseq.name=NM_000817;refseq.name2=GAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N572T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=104;refseq.start=171424568;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr2 171514995 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.384T>G;refseq.codonCoord=128;refseq.end=171514995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_015530;refseq.name2=GORASP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G128G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=36;refseq.start=171514995;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 171530712 . C T 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=25.20;MQ=97.28;MQ0=0;OQ=7326.71;QD=25.80;RankSumP=1.00000;SB=-835.60;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1185C>T;refseq.codonCoord=395;refseq.end=171530712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_015530;refseq.name2=GORASP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S395S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=167;refseq.start=171530712;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr2 171530714 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1187A>C;refseq.codonCoord=396;refseq.end=171530714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_015530;refseq.name2=GORASP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D396A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=169;refseq.start=171530714;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr2 172119519 . G A 245.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=6.05;MQ=98.72;MQ0=0;OQ=13785.69;QD=42.68;RankSumP=1.00000;SB=-5600.24;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*114G>A;refseq.codingCoordStr_2=c.797G>A;refseq.codonCoord_2=266;refseq.end_1=172119519;refseq.end_2=172119519;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=778;refseq.mrnaCoord_2=987;refseq.name2_1=CYBRD1;refseq.name2_2=CYBRD1;refseq.name_1=NM_001127383;refseq.name_2=NM_024843;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S266N;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=240;refseq.spliceDist_2=240;refseq.start_1=172119519;refseq.start_2=172119519;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr2 172433547 . A G 424.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=98.87;MQ0=0;OQ=4873.08;QD=39.94;RankSumP=1.00000;SB=-1076.08;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=172433547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_003705;refseq.name2=SLC25A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y33Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=33;refseq.start=172433547;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 172674496 . T C 209.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=993.51;QD=33.12;RankSumP=1.00000;SB=-49.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=172674496;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_004405;refseq.name2=DLX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q175Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-61;refseq.start=172674496;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 173048054 . G A 318.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=98.88;MQ0=0;OQ=5918.90;QD=41.68;RankSumP=1.00000;SB=-2436.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1138G>A;refseq.codingCoordStr_2=c.1138G>A;refseq.codonCoord_1=380;refseq.codonCoord_2=380;refseq.end_1=173048054;refseq.end_2=173048054;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1341;refseq.mrnaCoord_2=1341;refseq.name2_1=ITGA6;refseq.name2_2=ITGA6;refseq.name_1=NM_000210;refseq.name_2=NM_001079818;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A380T;refseq.proteinCoordStr_2=p.A380T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=173048054;refseq.start_2=173048054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr2 173060349 . C T 333.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=98.95;MQ0=0;OQ=6950.94;QD=21.06;RankSumP=0.113520;SB=-2842.81;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2082C>T;refseq.codingCoordStr_2=c.2082C>T;refseq.codonCoord_1=694;refseq.codonCoord_2=694;refseq.end_1=173060349;refseq.end_2=173060349;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2285;refseq.mrnaCoord_2=2285;refseq.name2_1=ITGA6;refseq.name2_2=ITGA6;refseq.name_1=NM_000210;refseq.name_2=NM_001079818;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D694D;refseq.proteinCoordStr_2=p.D694D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=173060349;refseq.start_2=173060349;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr2 173168886 . T C 209.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=98.73;MQ0=0;OQ=1778.59;QD=15.07;RankSumP=0.229407;SB=-512.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1254T>C;refseq.codonCoord=418;refseq.end=173168886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_002610;refseq.name2=PDK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D418D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=84;refseq.start=173168886;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr2 173836759 . C T 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=2;HaplotypeScore=6.97;MQ=98.89;MQ0=0;OQ=7476.99;QD=42.97;RankSumP=1.00000;SB=-1851.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1592C>T;refseq.codonCoord=531;refseq.end=173836759;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1792;refseq.name=NM_016653;refseq.name2=ZAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S531L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=41;refseq.start=173836759;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 174527977 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=368;Dels=0.00;HRun=2;HaplotypeScore=38.03;MQ=97.96;MQ0=0;OQ=739.96;QD=2.01;RankSumP=0.00000;SB=459.47;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1305T>G;refseq.codingCoordStr_2=c.1500T>G;refseq.codingCoordStr_3=c.1509T>G;refseq.codonCoord_1=435;refseq.codonCoord_2=500;refseq.codonCoord_3=503;refseq.end_1=174527977;refseq.end_2=174527977;refseq.end_3=174527977;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1689;refseq.mrnaCoord_2=2031;refseq.mrnaCoord_3=2040;refseq.name2_1=SP3;refseq.name2_2=SP3;refseq.name2_3=SP3;refseq.name_1=NM_001017371;refseq.name_2=NM_001172712;refseq.name_3=NM_003111;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G435G;refseq.proteinCoordStr_2=p.G500G;refseq.proteinCoordStr_3=p.G503G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-131;refseq.spliceDist_2=-131;refseq.spliceDist_3=-131;refseq.start_1=174527977;refseq.start_2=174527977;refseq.start_3=174527977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr2 175009243 . G A 104.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=709;Dels=0.00;HRun=0;HaplotypeScore=19.32;MQ=98.67;MQ0=0;OQ=14367.35;QD=20.26;RankSumP=0.406646;SB=-4631.76;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2460C>T;refseq.codingCoordStr_2=c.2460C>T;refseq.codonCoord_1=820;refseq.codonCoord_2=820;refseq.end_1=175009243;refseq.end_2=175009243;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2851;refseq.mrnaCoord_2=2702;refseq.name2_1=GPR155;refseq.name2_2=GPR155;refseq.name_1=NM_001033045;refseq.name_2=NM_152529;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N820N;refseq.proteinCoordStr_2=p.N820N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=148;refseq.spliceDist_2=148;refseq.start_1=175009243;refseq.start_2=175009243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr2 175145186 . G A 131.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=853.44;QD=13.99;RankSumP=0.748533;SB=-294.24;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.593C>T;refseq.codingCoordStr_2=c.593C>T;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.end_1=175145186;refseq.end_2=175145186;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=757;refseq.mrnaCoord_2=693;refseq.name2_1=WIPF1;refseq.name2_2=WIPF1;refseq.name_1=NM_001077269;refseq.name_2=NM_003387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P198L;refseq.proteinCoordStr_2=p.P198L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=235;refseq.spliceDist_2=235;refseq.start_1=175145186;refseq.start_2=175145186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr2 175752084 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.261T>G;refseq.codingCoordStr_2=c.261T>G;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=175752084;refseq.end_2=175752084;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=531;refseq.mrnaCoord_2=441;refseq.name2_1=ATP5G3;refseq.name2_2=ATP5G3;refseq.name_1=NM_001002258;refseq.name_2=NM_001689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G87G;refseq.proteinCoordStr_2=p.G87G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=175752084;refseq.start_2=175752084;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 176690211 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.404T>G;refseq.codonCoord=135;refseq.end=176690211;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_002148;refseq.name2=HOXD10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V135G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-342;refseq.start=176690211;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr2 176696536 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.250838;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.794C>A;refseq.codonCoord=265;refseq.end=176696536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_014213;refseq.name2=HOXD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P265Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-24;refseq.start=176696536;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr2 176724974 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=97;Dels=0.00;HRun=3;HaplotypeScore=1.75;MQ=98.21;MQ0=0;OQ=1314.50;QD=13.55;RankSumP=0.313606;SB=-541.14;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.367T>C;refseq.codonCoord=123;refseq.end=176724974;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_014621;refseq.name2=HOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S123P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-67;refseq.start=176724974;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr2 176742217 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.129C>A;refseq.codonCoord=43;refseq.end=176742217;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_006898;refseq.name2=HOXD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y43*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=213;refseq.start=176742217;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr2 176742367 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.84;MQ0=0;OQ=507.45;QD=12.08;RankSumP=0.511360;SB=-86.76;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.279G>T;refseq.codonCoord=93;refseq.end=176742367;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_006898;refseq.name2=HOXD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P93P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-263;refseq.start=176742367;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr2 176745000 . T C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=96.99;MQ0=0;OQ=1452.96;QD=31.59;RankSumP=1.00000;SB=-125.05;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1051T>C;refseq.codonCoord=351;refseq.end=176745000;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1227;refseq.name=NM_006898;refseq.name2=HOXD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L351L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=510;refseq.start=176745000;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 176763015 . G A 68.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.55;MQ0=0;OQ=268.93;QD=20.69;RankSumP=0.333333;SB=-147.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.886G>A;refseq.codonCoord=296;refseq.end=176763015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_024501;refseq.name2=HOXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A296T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=230;refseq.start=176763015;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr2 178125388 . C T 341.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=90.81;MQ0=0;OQ=2220.53;QD=37.64;RankSumP=1.00000;SB=-241.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.350G>A;refseq.codonCoord=117;refseq.end=178125388;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_152517;refseq.name2=TTC30B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R117H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=383;refseq.start=178125388;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr2 178125471 . C T 31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=68.56;MQ0=3;OQ=747.44;QD=29.90;RankSumP=1.00000;SB=-378.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.267G>A;refseq.codonCoord=89;refseq.end=178125471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_152517;refseq.name2=TTC30B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L89L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=300;refseq.start=178125471;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 178190064 . G T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=970;Dels=0.00;HRun=0;HaplotypeScore=15.02;MQ=47.22;MQ0=137;OQ=32634.78;QD=33.64;RankSumP=1.00000;SB=-14524.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1612C>A;refseq.codonCoord=538;refseq.end=178190064;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1877;refseq.name=NM_152275;refseq.name2=TTC30A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R538R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1877;refseq.start=178190064;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 1/1 chr2 178190340 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=75.11;MQ0=32;OQ=2906.05;QD=27.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1336G>A;refseq.codonCoord=446;refseq.end=178190340;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1601;refseq.name=NM_152275;refseq.name2=TTC30A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V446I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1601;refseq.start=178190340;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 178191667 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=178191667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_152275;refseq.name2=TTC30A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=274;refseq.start=178191667;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 178202417 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.000178152;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1434T>C;refseq.codingCoordStr_2=c.2016T>C;refseq.codingCoordStr_3=c.1692T>C;refseq.codingCoordStr_4=c.2766T>C;refseq.codonCoord_1=478;refseq.codonCoord_2=672;refseq.codonCoord_3=564;refseq.codonCoord_4=922;refseq.end_1=178202417;refseq.end_2=178202417;refseq.end_3=178202417;refseq.end_4=178202417;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1585;refseq.mrnaCoord_2=2115;refseq.mrnaCoord_3=1825;refseq.mrnaCoord_4=3084;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P478P;refseq.proteinCoordStr_2=p.P672P;refseq.proteinCoordStr_3=p.P564P;refseq.proteinCoordStr_4=p.P922P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=120;refseq.spliceDist_2=120;refseq.spliceDist_3=-45;refseq.spliceDist_4=120;refseq.start_1=178202417;refseq.start_2=178202417;refseq.start_3=178202417;refseq.start_4=178202417;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr2 178202419 . G A 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.147308;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1432C>T;refseq.codingCoordStr_2=c.2014C>T;refseq.codingCoordStr_3=c.1690C>T;refseq.codingCoordStr_4=c.2764C>T;refseq.codonCoord_1=478;refseq.codonCoord_2=672;refseq.codonCoord_3=564;refseq.codonCoord_4=922;refseq.end_1=178202419;refseq.end_2=178202419;refseq.end_3=178202419;refseq.end_4=178202419;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1583;refseq.mrnaCoord_2=2113;refseq.mrnaCoord_3=1823;refseq.mrnaCoord_4=3082;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P478S;refseq.proteinCoordStr_2=p.P672S;refseq.proteinCoordStr_3=p.P564S;refseq.proteinCoordStr_4=p.P922S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.spliceDist_3=-47;refseq.spliceDist_4=118;refseq.start_1=178202419;refseq.start_2=178202419;refseq.start_3=178202419;refseq.start_4=178202419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;set=soap GT 1/0 chr2 178202426 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1425A>C;refseq.codingCoordStr_2=c.2007A>C;refseq.codingCoordStr_3=c.1683A>C;refseq.codingCoordStr_4=c.2757A>C;refseq.codonCoord_1=475;refseq.codonCoord_2=669;refseq.codonCoord_3=561;refseq.codonCoord_4=919;refseq.end_1=178202426;refseq.end_2=178202426;refseq.end_3=178202426;refseq.end_4=178202426;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1576;refseq.mrnaCoord_2=2106;refseq.mrnaCoord_3=1816;refseq.mrnaCoord_4=3075;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S475S;refseq.proteinCoordStr_2=p.S669S;refseq.proteinCoordStr_3=p.S561S;refseq.proteinCoordStr_4=p.S919S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=-54;refseq.spliceDist_4=111;refseq.start_1=178202426;refseq.start_2=178202426;refseq.start_3=178202426;refseq.start_4=178202426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 1/0 chr2 178202429 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1422C>A;refseq.codingCoordStr_2=c.2004C>A;refseq.codingCoordStr_3=c.1680C>A;refseq.codingCoordStr_4=c.2754C>A;refseq.codonCoord_1=474;refseq.codonCoord_2=668;refseq.codonCoord_3=560;refseq.codonCoord_4=918;refseq.end_1=178202429;refseq.end_2=178202429;refseq.end_3=178202429;refseq.end_4=178202429;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1573;refseq.mrnaCoord_2=2103;refseq.mrnaCoord_3=1813;refseq.mrnaCoord_4=3072;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A474A;refseq.proteinCoordStr_2=p.A668A;refseq.proteinCoordStr_3=p.A560A;refseq.proteinCoordStr_4=p.A918A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.spliceDist_3=-57;refseq.spliceDist_4=108;refseq.start_1=178202429;refseq.start_2=178202429;refseq.start_3=178202429;refseq.start_4=178202429;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=FilteredInAll GT 0/1 chr2 178390849 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.15;MQ0=0;OQ=2440.09;QD=12.91;RankSumP=0.457659;SB=-763.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.294A>G;refseq.codingCoordStr_2=c.876A>G;refseq.codingCoordStr_3=c.552A>G;refseq.codingCoordStr_4=c.1626A>G;refseq.codonCoord_1=98;refseq.codonCoord_2=292;refseq.codonCoord_3=184;refseq.codonCoord_4=542;refseq.end_1=178390849;refseq.end_2=178390849;refseq.end_3=178390849;refseq.end_4=178390849;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=445;refseq.mrnaCoord_2=975;refseq.mrnaCoord_3=685;refseq.mrnaCoord_4=1944;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A98A;refseq.proteinCoordStr_2=p.A292A;refseq.proteinCoordStr_3=p.A184A;refseq.proteinCoordStr_4=p.A542A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.spliceDist_4=-19;refseq.start_1=178390849;refseq.start_2=178390849;refseq.start_3=178390849;refseq.start_4=178390849;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr2 178448868 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=330;Dels=0.00;HRun=1;HaplotypeScore=5.98;MQ=98.88;MQ0=0;OQ=6951.60;QD=21.07;RankSumP=0.171749;SB=-2471.40;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.-2T>G;refseq.codingCoordStr_2=c.581T>G;refseq.codingCoordStr_3=c.257T>G;refseq.codingCoordStr_4=c.1331T>G;refseq.codonCoord_2=194;refseq.codonCoord_3=86;refseq.codonCoord_4=444;refseq.end_1=178448868;refseq.end_2=178448868;refseq.end_3=178448868;refseq.end_4=178448868;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=150;refseq.mrnaCoord_2=680;refseq.mrnaCoord_3=390;refseq.mrnaCoord_4=1649;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name2_3=PDE11A;refseq.name2_4=PDE11A;refseq.name_1=NM_001077196;refseq.name_2=NM_001077197;refseq.name_3=NM_001077358;refseq.name_4=NM_016953;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.L194W;refseq.proteinCoordStr_3=p.L86W;refseq.proteinCoordStr_4=p.L444W;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.start_1=178448868;refseq.start_2=178448868;refseq.start_3=178448868;refseq.start_4=178448868;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.uorfChange_1=+1;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=Intersection GT 0/1 chr2 178644619 . T G 97.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=2;HaplotypeScore=3.43;MQ=98.86;MQ0=0;OQ=6896.95;QD=40.57;RankSumP=1.00000;SB=-2095.30;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.792A>C;refseq.codonCoord_2=264;refseq.end_1=178677264;refseq.end_2=178644619;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1110;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name_1=NM_001077197;refseq.name_2=NM_016953;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T264T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=-121;refseq.start_1=178587444;refseq.start_2=178644619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr2 178644860 . C T 136.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=14.69;MQ=98.57;MQ0=0;OQ=16740.46;QD=41.96;RankSumP=1.00000;SB=-7699.17;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.551G>A;refseq.codonCoord_2=184;refseq.end_1=178677264;refseq.end_2=178644860;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=869;refseq.name2_1=PDE11A;refseq.name2_2=PDE11A;refseq.name_1=NM_001077197;refseq.name_2=NM_016953;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R184Q;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=-362;refseq.start_1=178587444;refseq.start_2=178644860;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr2 178912043 . G A 159.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=98.97;MQ0=0;OQ=9193.40;QD=43.57;RankSumP=1.00000;SB=-2798.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.870G>A;refseq.codingCoordStr_2=c.807G>A;refseq.codonCoord_1=290;refseq.codonCoord_2=269;refseq.end_1=178912043;refseq.end_2=178912043;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1248;refseq.mrnaCoord_2=927;refseq.name2_1=OSBPL6;refseq.name2_2=OSBPL6;refseq.name_1=NM_032523;refseq.name_2=NM_145739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S290S;refseq.proteinCoordStr_2=p.S269S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=178912043;refseq.start_2=178912043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr2 178964124 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.2380T>G;refseq.codingCoordStr_3=c.2392T>G;refseq.codonCoord_2=794;refseq.codonCoord_3=798;refseq.end_1=178971907;refseq.end_2=178964124;refseq.end_3=178964124;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2758;refseq.mrnaCoord_3=2512;refseq.name2_1=MIR548N;refseq.name2_2=OSBPL6;refseq.name2_3=OSBPL6;refseq.name_1=NR_031666;refseq.name_2=NM_032523;refseq.name_3=NM_145739;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F794V;refseq.proteinCoordStr_3=p.F798V;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=178955083;refseq.start_2=178964124;refseq.start_3=178964124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=FilteredInAll GT 1/0 chr2 179033981 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=605;Dels=0.00;HRun=1;HaplotypeScore=8.20;MQ=98.79;MQ0=0;OQ=11890.78;QD=19.65;RankSumP=0.340568;SB=-4096.10;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.793C>T;refseq.codonCoord_2=265;refseq.end_1=179201749;refseq.end_2=179033981;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1149;refseq.name2_1=MIR548N;refseq.name2_2=DFNB59;refseq.name_1=NR_031666;refseq.name_2=NM_001042702;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R265C;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=27;refseq.start_1=178971955;refseq.start_2=179033981;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr2 179076764 . T C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.396497;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.807T>C;refseq.codonCoord_2=269;refseq.end_1=179201749;refseq.end_2=179076764;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1205;refseq.name2_1=MIR548N;refseq.name2_2=PLEKHA3;refseq.name_1=NR_031666;refseq.name_2=NM_019091;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N269N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=32;refseq.start_1=178971955;refseq.start_2=179076764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=soap GT 1/0 chr2 179323197 . A G 231.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=98.94;MQ0=0;OQ=15056.36;QD=41.71;RankSumP=1.00000;SB=-6809.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.12175T>C;refseq.codonCoord=4059;refseq.end=179323197;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12400;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4059L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=1815;refseq.start=179323197;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 179324132 . T C 85.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.83;MQ0=0;OQ=6246.38;QD=40.83;RankSumP=1.00000;SB=-2184.33;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.11240A>G;refseq.codonCoord=3747;refseq.end=179324132;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11465;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3747G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=880;refseq.start=179324132;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 179324176 . C G 131.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=98.77;MQ0=0;OQ=6846.32;QD=49.25;RankSumP=1.00000;SB=-2889.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.11196G>C;refseq.codonCoord=3732;refseq.end=179324176;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11421;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3732F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=836;refseq.start=179324176;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 179324239 . T C 297.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=9.24;MQ=98.65;MQ0=0;OQ=12559.79;QD=38.18;RankSumP=1.00000;SB=-4635.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.11133A>G;refseq.codonCoord=3711;refseq.end=179324239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11358;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3711T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=773;refseq.start=179324239;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 179332003 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.76;MQ0=0;OQ=18981.97;QD=43.54;RankSumP=1.00000;SB=-8988.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.10256G>A;refseq.codonCoord=3419;refseq.end=179332003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10481;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3419N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-48;refseq.start=179332003;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 179337608 . T C 348.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=98.29;MQ0=0;OQ=10839.34;QD=37.90;RankSumP=1.00000;SB=-3259.81;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.9879A>G;refseq.codonCoord=3293;refseq.end=179337608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10104;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3293E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-110;refseq.start=179337608;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 179337706 . C T 306.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.83;MQ0=0;OQ=9251.21;QD=40.75;RankSumP=1.00000;SB=-2913.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.9781G>A;refseq.codonCoord=3261;refseq.end=179337706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10006;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3261M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=78;refseq.start=179337706;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr2 179341666 . T G 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=1;RankSumP=0.485931;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.9142A>C;refseq.codonCoord=3048;refseq.end=179341666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9367;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3048P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-22;refseq.start=179341666;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr2 179341679 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DP=212;Dels=0.00;HRun=2;HaplotypeScore=28.74;MQ=97.67;MQ0=0;OQ=204.56;QD=0.96;RankSumP=0.105908;SB=155.54;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.9129A>G;refseq.codonCoord=3043;refseq.end=179341679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9354;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3043G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-35;refseq.start=179341679;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr2 179342666 . T G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.342857;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8887A>C;refseq.codonCoord=2963;refseq.end=179342666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9112;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2963P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-16;refseq.start=179342666;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr2 179352280 . G A 91.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=98.43;MQ0=0;OQ=5999.31;QD=41.95;RankSumP=1.00000;SB=-1888.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3884C>T;refseq.codonCoord=1295;refseq.end=179352280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4109;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1295L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-80;refseq.start=179352280;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr2 179353100 . T C 305.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.85;MQ0=0;OQ=11880.69;QD=42.28;RankSumP=1.00000;SB=-4963.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3601A>G;refseq.codonCoord=1201;refseq.end=179353100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3826;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1201E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=78;refseq.start=179353100;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr2 179358946 . C T 173.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=9.91;MQ=98.76;MQ0=0;OQ=4865.72;QD=16.49;RankSumP=0.231634;SB=-1404.52;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2244G>A;refseq.codonCoord=748;refseq.end=179358946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2469;refseq.name=NM_133379;refseq.name2=TTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E748E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-127;refseq.start=179358946;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 179410513 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=4;HaplotypeScore=4.01;MQ=98.73;MQ0=0;OQ=8412.05;QD=40.06;RankSumP=1.00000;SB=-3738.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1953T>C;refseq.codonCoord=651;refseq.end=179410513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2010;refseq.name=NM_173648;refseq.name2=CCDC141;refseq.positionType=CDS;refseq.proteinCoordStr=p.P651P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=204;refseq.start=179410513;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 179429291 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=2501.71;QD=18.53;RankSumP=0.388981;SB=-392.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1078C>T;refseq.codonCoord=360;refseq.end=179429291;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1135;refseq.name=NM_173648;refseq.name2=CCDC141;refseq.positionType=CDS;refseq.proteinCoordStr=p.R360W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-63;refseq.start=179429291;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr2 179688175 . T C 281.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=99.00;MQ0=0;OQ=1899.19;QD=16.51;RankSumP=0.458018;SB=-755.01;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1701A>G;refseq.codonCoord=567;refseq.end=179688175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1851;refseq.name=NM_178123;refseq.name2=SESTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q567Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=54;refseq.start=179688175;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr2 179694798 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=98.87;MQ0=0;OQ=7539.55;QD=21.00;RankSumP=0.159211;SB=-2795.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1386A>G;refseq.codonCoord=462;refseq.end=179694798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_178123;refseq.name2=SESTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K462K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-57;refseq.start=179694798;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 179716684 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.729A>C;refseq.codonCoord=243;refseq.end=179716684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_178123;refseq.name2=SESTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A243A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=92;refseq.start=179716684;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr2 179756153 . T C 133.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.54;MQ0=0;OQ=2018.54;QD=19.04;RankSumP=0.349048;SB=-603.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.63A>G;refseq.codonCoord=21;refseq.end=179756153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_178123;refseq.name2=SESTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K21K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=179756153;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 180016273 . C T 199.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.02;MQ0=0;OQ=1156.05;QD=15.21;RankSumP=0.301909;SB=-324.31;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1137G>A;refseq.codingCoordStr_2=c.1059G>A;refseq.codingCoordStr_3=c.1365G>A;refseq.codonCoord_1=379;refseq.codonCoord_2=353;refseq.codonCoord_3=455;refseq.end_1=180016273;refseq.end_2=180016273;refseq.end_3=180016273;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1302;refseq.mrnaCoord_3=1969;refseq.name2_1=ZNF385B;refseq.name2_2=ZNF385B;refseq.name2_3=ZNF385B;refseq.name_1=NM_001113397;refseq.name_2=NM_001113398;refseq.name_3=NM_152520;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G379G;refseq.proteinCoordStr_2=p.G353G;refseq.proteinCoordStr_3=p.G455G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.spliceDist_3=168;refseq.start_1=180016273;refseq.start_2=180016273;refseq.start_3=180016273;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 0/1 chr2 182082779 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=2.74;MQ=98.29;MQ0=0;OQ=822.55;QD=13.06;RankSumP=0.417495;SB=-62.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1845A>G;refseq.codonCoord=615;refseq.end=182082779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2608;refseq.name=NM_000885;refseq.name2=ITGA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T615T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=182082779;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr2 182103590 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=630;Dels=0.00;HRun=0;HaplotypeScore=16.62;MQ=98.97;MQ0=0;OQ=27182.30;QD=43.15;RankSumP=1.00000;SB=-10544.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2633G>A;refseq.codonCoord=878;refseq.end=182103590;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3396;refseq.name=NM_000885;refseq.name2=ITGA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R878Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-32;refseq.start=182103590;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 182107342 . T C 120.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.61;MQ0=0;OQ=1724.80;QD=12.97;RankSumP=0.241623;SB=-337.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2883T>C;refseq.codonCoord=961;refseq.end=182107342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3646;refseq.name=NM_000885;refseq.name2=ITGA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H961H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=182107342;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 182107883 . A G 338.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=98.42;MQ0=0;OQ=7175.62;QD=41.96;RankSumP=1.00000;SB=-2962.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2979A>G;refseq.codonCoord=993;refseq.end=182107883;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3742;refseq.name=NM_000885;refseq.name2=ITGA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L993L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-25;refseq.start=182107883;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 182112096 . G A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=94.62;MQ0=0;OQ=15635.83;QD=43.92;RankSumP=1.00000;SB=-7106.65;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_3=c.1584C>T;refseq.codingCoordStr_4=c.1167C>T;refseq.codingCoordStr_5=c.1299C>T;refseq.codingCoordStr_6=c.1452C>T;refseq.codingCoordStr_7=c.1506C>T;refseq.codonCoord_3=528;refseq.codonCoord_4=389;refseq.codonCoord_5=433;refseq.codonCoord_6=484;refseq.codonCoord_7=502;refseq.end_1=182112096;refseq.end_2=182112096;refseq.end_3=182112096;refseq.end_4=182112096;refseq.end_5=182112096;refseq.end_6=182112096;refseq.end_7=182112096;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1411;refseq.mrnaCoord_2=1543;refseq.mrnaCoord_3=1685;refseq.mrnaCoord_4=1268;refseq.mrnaCoord_5=1400;refseq.mrnaCoord_6=1553;refseq.mrnaCoord_7=1607;refseq.name2_1=CERKL;refseq.name2_2=CERKL;refseq.name2_3=CERKL;refseq.name2_4=CERKL;refseq.name2_5=CERKL;refseq.name2_6=CERKL;refseq.name2_7=CERKL;refseq.name_1=NR_027689;refseq.name_2=NR_027690;refseq.name_3=NM_001030311;refseq.name_4=NM_001030312;refseq.name_5=NM_001030313;refseq.name_6=NM_001160277;refseq.name_7=NM_201548;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.D528D;refseq.proteinCoordStr_4=p.D389D;refseq.proteinCoordStr_5=p.D433D;refseq.proteinCoordStr_6=p.D484D;refseq.proteinCoordStr_7=p.D502D;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.referenceCodon_7=GAC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.spliceDist_4=-33;refseq.spliceDist_5=-33;refseq.spliceDist_6=-33;refseq.spliceDist_7=-33;refseq.start_1=182112096;refseq.start_2=182112096;refseq.start_3=182112096;refseq.start_4=182112096;refseq.start_5=182112096;refseq.start_6=182112096;refseq.start_7=182112096;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantAA_7=Asp;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;refseq.variantCodon_7=GAT;set=Intersection GT 1/1 chr2 182176807 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_3=c.481+2;refseq.codingCoordStr_4=c.481+2;refseq.codingCoordStr_5=c.481+2;refseq.codingCoordStr_6=c.481+2;refseq.codingCoordStr_7=c.481+2;refseq.end_1=182176807;refseq.end_2=182176807;refseq.end_3=182176807;refseq.end_4=182176807;refseq.end_5=182176807;refseq.end_6=182176807;refseq.end_7=182176807;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.name2_1=CERKL;refseq.name2_2=CERKL;refseq.name2_3=CERKL;refseq.name2_4=CERKL;refseq.name2_5=CERKL;refseq.name2_6=CERKL;refseq.name2_7=CERKL;refseq.name_1=NR_027689;refseq.name_2=NR_027690;refseq.name_3=NM_001030311;refseq.name_4=NM_001030312;refseq.name_5=NM_001030313;refseq.name_6=NM_001160277;refseq.name_7=NM_201548;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceDist_6=2;refseq.spliceDist_7=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.spliceInfo_5=splice-donor_2;refseq.spliceInfo_6=splice-donor_2;refseq.spliceInfo_7=splice-donor_2;refseq.start_1=182176807;refseq.start_2=182176807;refseq.start_3=182176807;refseq.start_4=182176807;refseq.start_5=182176807;refseq.start_6=182176807;refseq.start_7=182176807;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;set=FilteredInAll GT 0/1 chr2 182177048 . T G 259.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=2217.17;QD=40.31;RankSumP=1.00000;SB=-507.08;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_3=c.242A>C;refseq.codingCoordStr_4=c.242A>C;refseq.codingCoordStr_5=c.242A>C;refseq.codingCoordStr_6=c.242A>C;refseq.codingCoordStr_7=c.242A>C;refseq.codonCoord_3=81;refseq.codonCoord_4=81;refseq.codonCoord_5=81;refseq.codonCoord_6=81;refseq.codonCoord_7=81;refseq.end_1=182177048;refseq.end_2=182177048;refseq.end_3=182177048;refseq.end_4=182177048;refseq.end_5=182177048;refseq.end_6=182177048;refseq.end_7=182177048;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=343;refseq.mrnaCoord_2=343;refseq.mrnaCoord_3=343;refseq.mrnaCoord_4=343;refseq.mrnaCoord_5=343;refseq.mrnaCoord_6=343;refseq.mrnaCoord_7=343;refseq.name2_1=CERKL;refseq.name2_2=CERKL;refseq.name2_3=CERKL;refseq.name2_4=CERKL;refseq.name2_5=CERKL;refseq.name2_6=CERKL;refseq.name2_7=CERKL;refseq.name_1=NR_027689;refseq.name_2=NR_027690;refseq.name_3=NM_001030311;refseq.name_4=NM_001030312;refseq.name_5=NM_001030313;refseq.name_6=NM_001160277;refseq.name_7=NM_201548;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.D81A;refseq.proteinCoordStr_4=p.D81A;refseq.proteinCoordStr_5=p.D81A;refseq.proteinCoordStr_6=p.D81A;refseq.proteinCoordStr_7=p.D81A;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.referenceCodon_6=GAT;refseq.referenceCodon_7=GAT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceDist_5=4;refseq.spliceDist_6=4;refseq.spliceDist_7=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.spliceInfo_5=splice-acceptor_4;refseq.spliceInfo_6=splice-acceptor_4;refseq.spliceInfo_7=splice-acceptor_4;refseq.start_1=182177048;refseq.start_2=182177048;refseq.start_3=182177048;refseq.start_4=182177048;refseq.start_5=182177048;refseq.start_6=182177048;refseq.start_7=182177048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;refseq.variantCodon_7=GCT;set=Intersection GT 1/1 chr2 182229823 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=115;Dels=0.00;HRun=2;HaplotypeScore=5.53;MQ=98.53;MQ0=0;OQ=1453.06;QD=12.64;RankSumP=0.151164;SB=-386.89;SecondBestBaseQ=26;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_3=c.156C>T;refseq.codingCoordStr_4=c.156C>T;refseq.codingCoordStr_5=c.156C>T;refseq.codingCoordStr_6=c.156C>T;refseq.codingCoordStr_7=c.156C>T;refseq.codonCoord_3=52;refseq.codonCoord_4=52;refseq.codonCoord_5=52;refseq.codonCoord_6=52;refseq.codonCoord_7=52;refseq.end_1=182229823;refseq.end_2=182229823;refseq.end_3=182229823;refseq.end_4=182229823;refseq.end_5=182229823;refseq.end_6=182229823;refseq.end_7=182229823;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=257;refseq.mrnaCoord_2=257;refseq.mrnaCoord_3=257;refseq.mrnaCoord_4=257;refseq.mrnaCoord_5=257;refseq.mrnaCoord_6=257;refseq.mrnaCoord_7=257;refseq.name2_1=CERKL;refseq.name2_2=CERKL;refseq.name2_3=CERKL;refseq.name2_4=CERKL;refseq.name2_5=CERKL;refseq.name2_6=CERKL;refseq.name2_7=CERKL;refseq.name_1=NR_027689;refseq.name_2=NR_027690;refseq.name_3=NM_001030311;refseq.name_4=NM_001030312;refseq.name_5=NM_001030313;refseq.name_6=NM_001160277;refseq.name_7=NM_201548;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.F52F;refseq.proteinCoordStr_4=p.F52F;refseq.proteinCoordStr_5=p.F52F;refseq.proteinCoordStr_6=p.F52F;refseq.proteinCoordStr_7=p.F52F;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceAA_6=Phe;refseq.referenceAA_7=Phe;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.referenceCodon_5=TTC;refseq.referenceCodon_6=TTC;refseq.referenceCodon_7=TTC;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.spliceDist_3=-83;refseq.spliceDist_4=-83;refseq.spliceDist_5=-83;refseq.spliceDist_6=-83;refseq.spliceDist_7=-83;refseq.start_1=182229823;refseq.start_2=182229823;refseq.start_3=182229823;refseq.start_4=182229823;refseq.start_5=182229823;refseq.start_6=182229823;refseq.start_7=182229823;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantAA_5=Phe;refseq.variantAA_6=Phe;refseq.variantAA_7=Phe;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;refseq.variantCodon_5=TTT;refseq.variantCodon_6=TTT;refseq.variantCodon_7=TTT;set=Intersection GT 1/0 chr2 182251700 . T C 344.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2746.50;QD=39.24;RankSumP=1.00000;SB=-353.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.133A>G;refseq.codonCoord=45;refseq.end=182251700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_002500;refseq.name2=NEUROD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T45A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=144;refseq.start=182251700;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr2 183293000 . G A 219.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1082.97;QD=41.65;RankSumP=1.00000;SB=-224.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.226G>A;refseq.codonCoord=76;refseq.end=183293000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_018981;refseq.name2=DNAJC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.D76N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=22;refseq.start=183293000;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 183301942 . C T 363.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=98.83;MQ0=0;OQ=11313.01;QD=42.21;RankSumP=1.00000;SB=-2973.92;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.609C>T;refseq.codonCoord=203;refseq.end=183301942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_018981;refseq.name2=DNAJC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S203S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-25;refseq.start=183301942;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr2 183324712 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1389T>C;refseq.codonCoord=463;refseq.end=183324712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1804;refseq.name=NM_018981;refseq.name2=DNAJC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F463F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-46;refseq.start=183324712;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr2 183330792 . T G 373.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=4363.72;QD=41.56;RankSumP=1.00000;SB=-789.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1938T>G;refseq.codonCoord=646;refseq.end=183330792;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2353;refseq.name=NM_018981;refseq.name2=DNAJC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H646Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=183330792;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 183335749 . A G 178.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=15.02;MQ=98.69;MQ0=0;OQ=12742.98;QD=37.81;RankSumP=1.00000;SB=-3992.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2241A>G;refseq.codonCoord=747;refseq.end=183335749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2656;refseq.name=NM_018981;refseq.name2=DNAJC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K747K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-25;refseq.start=183335749;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr2 183407829 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=10.64;MQ=98.81;MQ0=0;OQ=5861.97;QD=24.42;RankSumP=0.178908;SB=-2490.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.970C>G;refseq.codonCoord=324;refseq.end=183407829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1188;refseq.name=NM_001463;refseq.name2=FRZB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R324G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=109;refseq.start=183407829;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr2 183507803 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1421.39;QD=24.09;RankSumP=0.213875;SB=-248.66;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2781C>G;refseq.codingCoordStr_2=c.2799C>G;refseq.codonCoord_1=927;refseq.codonCoord_2=933;refseq.end_1=183507803;refseq.end_2=183507803;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3183;refseq.mrnaCoord_2=3201;refseq.name2_1=NCKAP1;refseq.name2_2=NCKAP1;refseq.name_1=NM_013436;refseq.name_2=NM_205842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V927V;refseq.proteinCoordStr_2=p.V933V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=183507803;refseq.start_2=183507803;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr2 183556298 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=2.30;MQ=98.92;MQ0=0;OQ=7728.86;QD=22.08;RankSumP=0.0845479;SB=-2646.20;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1062T>C;refseq.codingCoordStr_2=c.1080T>C;refseq.codonCoord_1=354;refseq.codonCoord_2=360;refseq.end_1=183556298;refseq.end_2=183556298;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1464;refseq.mrnaCoord_2=1482;refseq.name2_1=NCKAP1;refseq.name2_2=NCKAP1;refseq.name_1=NM_013436;refseq.name_2=NM_205842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A354A;refseq.proteinCoordStr_2=p.A360A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=183556298;refseq.start_2=183556298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr2 185509150 . A T 163.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.85;MQ0=0;OQ=8389.11;QD=18.77;RankSumP=0.119360;SB=-3467.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.782A>T;refseq.codonCoord=261;refseq.end=185509150;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q261L;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=396;refseq.start=185509150;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr2 185509804 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=15.14;MQ=98.84;MQ0=0;OQ=5488.45;QD=20.33;RankSumP=0.375530;SB=-845.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1436A>G;refseq.codonCoord=479;refseq.end=185509804;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2030;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D479G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1050;refseq.start=185509804;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr2 185509842 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=21.04;MQ=98.85;MQ0=0;OQ=10410.61;QD=19.42;RankSumP=0.308696;SB=-3356.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1474A>G;refseq.codonCoord=492;refseq.end=185509842;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2068;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I492V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1088;refseq.start=185509842;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr2 185509992 . G A 1769.75 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.70;MQ0=0;QD=15.94;RankSumP=0.000259359;SB=-542.92;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1624G>A;refseq.codonCoord=542;refseq.end=185509992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E542K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1238;refseq.start=185509992;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr2 185510000 . A G 3875.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.67;MQ0=0;QD=39.15;RankSumP=1.00000;SB=-1312.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1632A>G;refseq.codonCoord=544;refseq.end=185510000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2226;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T544T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1246;refseq.start=185510000;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/1 chr2 185510001 . G A 1995.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.67;MQ0=0;QD=20.16;RankSumP=0.328990;SB=-789.04;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1633G>A;refseq.codonCoord=545;refseq.end=185510001;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2227;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G545S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1247;refseq.start=185510001;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chr2 185510488 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=6.00;MQ=97.20;MQ0=0;OQ=1680.57;QD=12.54;RankSumP=0.407309;SB=-863.48;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2120C>A;refseq.codonCoord=707;refseq.end=185510488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2714;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T707K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1734;refseq.start=185510488;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr2 185510608 . A G 414.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.49;MQ0=0;OQ=4456.83;QD=39.79;RankSumP=1.00000;SB=-1216.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2240A>G;refseq.codonCoord=747;refseq.end=185510608;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2834;refseq.name=NM_194250;refseq.name2=ZNF804A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H747R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1852;refseq.start=185510608;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr2 186378349 . A C 325.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=8474.86;QD=40.94;RankSumP=1.00000;SB=-2418.34;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 186379025 . T A 313.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=8430.24;QD=42.15;RankSumP=1.00000;SB=-3220.85;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 186379224 . T C 101.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=15.46;MQ=98.66;MQ0=0;OQ=5595.76;QD=40.55;RankSumP=1.00000;SB=-2553.72;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 186379602 . G A 309.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=98.47;MQ0=0;OQ=6144.66;QD=42.97;RankSumP=1.00000;SB=-2212.27;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 186380157 . G A 349.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=3.72;MQ=98.54;MQ0=0;OQ=9260.51;QD=43.07;RankSumP=1.00000;SB=-3165.58;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 186380772 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=191;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3083.39;QD=16.14;RankSumP=0.287972;SB=-1328.67;SecondBestBaseQ=33;set=Intersection GT 1/0 chr2 186406121 . A G 322.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=8477.54;QD=41.15;RankSumP=1.00000;SB=-4079.33;SecondBestBaseQ=0;set=Intersection GT 1/1 chr2 187077052 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.583T>G;refseq.codonCoord=195;refseq.end=187077052;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_018471;refseq.name2=ZC3H15;refseq.positionType=CDS;refseq.proteinCoordStr=p.F195V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=49;refseq.start=187077052;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr2 187210052 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.635T>G;refseq.codingCoordStr_2=c.665T>G;refseq.codingCoordStr_3=c.773T>G;refseq.codonCoord_1=212;refseq.codonCoord_2=222;refseq.codonCoord_3=258;refseq.end_1=187210052;refseq.end_2=187210052;refseq.end_3=187210052;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=765;refseq.mrnaCoord_2=941;refseq.mrnaCoord_3=1049;refseq.name2_1=ITGAV;refseq.name2_2=ITGAV;refseq.name2_3=ITGAV;refseq.name_1=NM_001144999;refseq.name_2=NM_001145000;refseq.name_3=NM_002210;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V212G;refseq.proteinCoordStr_2=p.V222G;refseq.proteinCoordStr_3=p.V258G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=187210052;refseq.start_2=187210052;refseq.start_3=187210052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr2 187240662 . G A 312.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.65;MQ0=0;OQ=17467.42;QD=40.62;RankSumP=1.00000;SB=-4848.25;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2209G>A;refseq.codingCoordStr_2=c.2239G>A;refseq.codingCoordStr_3=c.2347G>A;refseq.codonCoord_1=737;refseq.codonCoord_2=747;refseq.codonCoord_3=783;refseq.end_1=187240662;refseq.end_2=187240662;refseq.end_3=187240662;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2339;refseq.mrnaCoord_2=2515;refseq.mrnaCoord_3=2623;refseq.name2_1=ITGAV;refseq.name2_2=ITGAV;refseq.name2_3=ITGAV;refseq.name_1=NM_001144999;refseq.name_2=NM_001145000;refseq.name_3=NM_002210;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V737I;refseq.proteinCoordStr_2=p.V747I;refseq.proteinCoordStr_3=p.V783I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=187240662;refseq.start_2=187240662;refseq.start_3=187240662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/1 chr2 187249885 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2891T>G;refseq.codingCoordStr_2=c.2921T>G;refseq.codingCoordStr_3=c.3029T>G;refseq.codonCoord_1=964;refseq.codonCoord_2=974;refseq.codonCoord_3=1010;refseq.end_1=187249885;refseq.end_2=187249885;refseq.end_3=187249885;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3021;refseq.mrnaCoord_2=3197;refseq.mrnaCoord_3=3305;refseq.name2_1=ITGAV;refseq.name2_2=ITGAV;refseq.name2_3=ITGAV;refseq.name_1=NM_001144999;refseq.name_2=NM_001145000;refseq.name_3=NM_002210;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V964G;refseq.proteinCoordStr_2=p.V974G;refseq.proteinCoordStr_3=p.V1010G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=187249885;refseq.start_2=187249885;refseq.start_3=187249885;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr2 187267205 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=95.67;MQ0=0;OQ=541.89;QD=8.47;RankSumP=0.288045;SB=-47.00;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.60G>A;refseq.codonCoord=20;refseq.end=187267205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_177454;refseq.name2=FAM171B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L20L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=172;refseq.start=187267205;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr2 187267222 . T G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.555799;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=187267222;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_177454;refseq.name2=FAM171B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-162;refseq.start=187267222;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/0 chr2 187267292 . G A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.542302;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.147G>A;refseq.codonCoord=49;refseq.end=187267292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_177454;refseq.name2=FAM171B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q49Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-92;refseq.start=187267292;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr2 187267295 . A G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.673636;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.150A>G;refseq.codonCoord=50;refseq.end=187267295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=262;refseq.name=NM_177454;refseq.name2=FAM171B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q50Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-89;refseq.start=187267295;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 0/1 chr2 187401184 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1674T>C;refseq.codonCoord=558;refseq.end=187401184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1714;refseq.name=NM_182521;refseq.name2=ZSWIM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T558T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=579;refseq.start=187401184;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr2 187958546 . T A 449.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.62;MQ0=0;OQ=4011.06;QD=39.71;RankSumP=1.00000;SB=-1868.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.22A>T;refseq.codonCoord=8;refseq.end=187958546;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=570;refseq.name=NM_005795;refseq.name2=CALCRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N8Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-30;refseq.start=187958546;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr2 189572325 . G A 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=2.03;MQ=99.00;MQ0=0;OQ=132.05;QD=7.77;RankSumP=0.757940;SB=-73.30;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2092G>A;refseq.codonCoord=698;refseq.end=189572325;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2209;refseq.name=NM_000090;refseq.name2=COL3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A698T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-30;refseq.start=189572325;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr2 189582014 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3645T>G;refseq.codonCoord=1215;refseq.end=189582014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3762;refseq.name=NM_000090;refseq.name2=COL3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1215G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=120;refseq.start=189582014;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 189583666 . T G 217.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=495;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.80;MQ0=0;OQ=20382.85;QD=41.18;RankSumP=1.00000;SB=-7364.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4059T>G;refseq.codonCoord=1353;refseq.end=189583666;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4176;refseq.name=NM_000090;refseq.name2=COL3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1353Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=48;refseq.start=189583666;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 189612448 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.18;MQ0=0;OQ=1079.69;QD=11.86;RankSumP=0.452612;SB=-523.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3720T>C;refseq.codonCoord=1240;refseq.end=189612448;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3995;refseq.name=NM_000393;refseq.name2=COL5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1240Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=87;refseq.start=189612448;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr2 189612478 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.40;MQ0=0;OQ=1381.81;QD=12.79;RankSumP=0.244454;SB=-642.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3690A>C;refseq.codonCoord=1230;refseq.end=189612478;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3965;refseq.name=NM_000393;refseq.name2=COL5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1230T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=57;refseq.start=189612478;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr2 189616182 . A G 384.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.78;MQ0=0;OQ=7599.14;QD=36.53;RankSumP=1.00000;SB=-3291.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3411T>C;refseq.codonCoord=1137;refseq.end=189616182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3686;refseq.name=NM_000393;refseq.name2=COL5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1137G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=48;refseq.start=189616182;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 189641076 . T C 91.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=2;HaplotypeScore=1.65;MQ=98.91;MQ0=0;OQ=7458.00;QD=36.74;RankSumP=1.00000;SB=-2223.18;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1311A>G;refseq.codonCoord=437;refseq.end=189641076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1586;refseq.name=NM_000393;refseq.name2=COL5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P437P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=189641076;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 189683203 . G T 51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=97.97;MQ0=0;OQ=1414.19;QD=37.22;RankSumP=1.00000;SB=-352.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.315C>A;refseq.codonCoord=105;refseq.end=189683203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_000393;refseq.name2=COL5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=189683203;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 190031775 . A G 353.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=98.79;MQ0=0;OQ=7486.68;QD=18.44;RankSumP=0.425893;SB=-1376.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.621A>G;refseq.codonCoord=207;refseq.end=190031775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_032168;refseq.name2=WDR75;refseq.positionType=CDS;refseq.proteinCoordStr=p.T207T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=52;refseq.start=190031775;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr2 190138422 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=16.54;MQ=98.20;MQ0=0;OQ=5178.55;QD=15.74;RankSumP=0.396439;SB=-1215.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=190138422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_014585;refseq.name2=SLC40A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V221V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-98;refseq.start=190138422;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr2 190138470 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.615T>G;refseq.codonCoord=205;refseq.end=190138470;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_014585;refseq.name2=SLC40A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C205W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=101;refseq.start=190138470;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr2 190239671 . G A 411.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.82;MQ0=0;OQ=7325.55;QD=42.59;RankSumP=1.00000;SB=-1898.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.568G>A;refseq.codonCoord=190;refseq.end=190239671;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_019048;refseq.name2=ASNSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=660;refseq.start=190239671;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr2 190303503 . G T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=8233.61;QD=39.97;RankSumP=1.00000;SB=-3542.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3231G>T;refseq.codonCoord=1077;refseq.end=190303503;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3319;refseq.name=NM_144708;refseq.name2=ANKAR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1077F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=38;refseq.start=190303503;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr2 190310758 . T C 433.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.60;MQ0=0;OQ=4919.93;QD=39.68;RankSumP=1.00000;SB=-1764.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3528T>C;refseq.codonCoord=1176;refseq.end=190310758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3616;refseq.name=NM_144708;refseq.name2=ANKAR;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1176F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-55;refseq.start=190310758;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 190869867 . T C 457.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.25;MQ0=0;OQ=5254.04;QD=38.07;RankSumP=1.00000;SB=-2326.94;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.136A>G;refseq.codingCoordStr_2=c.136A>G;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=190869867;refseq.end_2=190869867;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=431;refseq.mrnaCoord_2=431;refseq.name2_1=HIBCH;refseq.name2_2=HIBCH;refseq.name_1=NM_014362;refseq.name_2=NM_198047;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T46A;refseq.proteinCoordStr_2=p.T46A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=190869867;refseq.start_2=190869867;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr2 190892720 . A G 400.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.65;MQ0=0;OQ=3283.34;QD=36.89;RankSumP=1.00000;SB=-996.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2T>C;refseq.codingCoordStr_2=c.2T>C;refseq.codonCoord_1=1;refseq.codonCoord_2=1;refseq.end_1=190892720;refseq.end_2=190892720;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=297;refseq.name2_1=HIBCH;refseq.name2_2=HIBCH;refseq.name_1=NM_014362;refseq.name_2=NM_198047;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1T;refseq.proteinCoordStr_2=p.M1T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=190892720;refseq.start_2=190892720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr2 190939703 . G A 222.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.67;MQ0=0;OQ=4569.96;QD=21.76;RankSumP=0.123795;SB=-1840.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.303G>A;refseq.codingCoordStr_2=c.303G>A;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.end_1=190939703;refseq.end_2=190939703;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=859;refseq.name2_1=INPP1;refseq.name2_2=INPP1;refseq.name_1=NM_001128928;refseq.name_2=NM_002194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E101E;refseq.proteinCoordStr_2=p.E101E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=190939703;refseq.start_2=190939703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr2 190944146 . A C 362.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.77;MQ0=0;OQ=6388.94;QD=37.14;RankSumP=1.00000;SB=-3135.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.973A>C;refseq.codingCoordStr_2=c.973A>C;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.end_1=190944146;refseq.end_2=190944146;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1673;refseq.mrnaCoord_2=1529;refseq.name2_1=INPP1;refseq.name2_2=INPP1;refseq.name_1=NM_001128928;refseq.name_2=NM_002194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R325R;refseq.proteinCoordStr_2=p.R325R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=332;refseq.spliceDist_2=332;refseq.start_1=190944146;refseq.start_2=190944146;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr2 191009613 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=2;HaplotypeScore=9.15;MQ=98.77;MQ0=0;OQ=8969.38;QD=40.59;RankSumP=1.00000;SB=-3942.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.613A>G;refseq.codonCoord=205;refseq.end=191009613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_017694;refseq.name2=MFSD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R205G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=666;refseq.start=191009613;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr2 191582912 . A G 180.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=0;HaplotypeScore=20.48;MQ=98.93;MQ0=0;OQ=9377.26;QD=19.37;RankSumP=0.404676;SB=-2416.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.63T>C;refseq.codingCoordStr_2=c.63T>C;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=191582912;refseq.end_2=191582912;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=451;refseq.mrnaCoord_2=451;refseq.name2_1=STAT1;refseq.name2_2=STAT1;refseq.name_1=NM_007315;refseq.name_2=NM_139266;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L21L;refseq.proteinCoordStr_2=p.L21L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=191582912;refseq.start_2=191582912;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr2 191609244 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1461A>C;refseq.codonCoord=487;refseq.end=191609244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1715;refseq.name=NM_003151;refseq.name2=STAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P487P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=27;refseq.start=191609244;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 191958971 . G A 275.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5373.94;QD=43.69;RankSumP=1.00000;SB=-2031.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1470G>A;refseq.codingCoordStr_2=c.1470G>A;refseq.codingCoordStr_3=c.1470G>A;refseq.codonCoord_1=490;refseq.codonCoord_2=490;refseq.codonCoord_3=490;refseq.end_1=191958971;refseq.end_2=191958971;refseq.end_3=191958971;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1725;refseq.mrnaCoord_2=1563;refseq.mrnaCoord_3=1725;refseq.name2_1=MYO1B;refseq.name2_2=MYO1B;refseq.name2_3=MYO1B;refseq.name_1=NM_001130158;refseq.name_2=NM_001161819;refseq.name_3=NM_012223;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E490E;refseq.proteinCoordStr_2=p.E490E;refseq.proteinCoordStr_3=p.E490E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.spliceDist_3=-85;refseq.start_1=191958971;refseq.start_2=191958971;refseq.start_3=191958971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr2 191987572 . T C 451.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=4062.35;QD=41.45;RankSumP=1.00000;SB=-1875.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.3091T>C;refseq.codingCoordStr_2=c.3091T>C;refseq.codingCoordStr_3=c.2917T>C;refseq.codonCoord_1=1031;refseq.codonCoord_2=1031;refseq.codonCoord_3=973;refseq.end_1=191987572;refseq.end_2=191987572;refseq.end_3=191987572;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3346;refseq.mrnaCoord_2=3184;refseq.mrnaCoord_3=3172;refseq.name2_1=MYO1B;refseq.name2_2=MYO1B;refseq.name2_3=MYO1B;refseq.name_1=NM_001130158;refseq.name_2=NM_001161819;refseq.name_3=NM_012223;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L1031L;refseq.proteinCoordStr_2=p.L1031L;refseq.proteinCoordStr_3=p.L973L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.spliceDist_3=-69;refseq.start_1=191987572;refseq.start_2=191987572;refseq.start_3=191987572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr2 192409638 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.29;MQ0=0;OQ=1235.11;QD=12.11;RankSumP=0.309829;SB=-393.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.534T>C;refseq.codonCoord=178;refseq.end=192409638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=889;refseq.name=NM_004657;refseq.name2=SDPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G178G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=51;refseq.start=192409638;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr2 196381778 . A G 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=98.82;MQ0=0;OQ=10054.76;QD=40.87;RankSumP=1.00000;SB=-3513.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.9956T>C;refseq.codonCoord=3319;refseq.end=196381778;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10057;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3319P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=68;refseq.start=196381778;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr2 196461779 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.5218T>C;refseq.codonCoord=1740;refseq.end=196461779;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5319;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1740P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-12;refseq.start=196461779;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 196499521 . T G 235.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.50;MQ0=0;OQ=4252.06;QD=19.07;RankSumP=0.218822;SB=-1499.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3486A>C;refseq.codonCoord=1162;refseq.end=196499521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3587;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1162A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=15;refseq.start=196499521;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr2 196530249 . A G 143.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=2.03;MQ=98.74;MQ0=0;OQ=9088.20;QD=22.06;RankSumP=0.340255;SB=-3108.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3059T>C;refseq.codonCoord=1020;refseq.end=196530249;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3160;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1020T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-20;refseq.start=196530249;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 196560156 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.78;MQ0=0;OQ=1047.06;QD=23.80;RankSumP=0.684327;SB=-283.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1633C>T;refseq.codonCoord=545;refseq.end=196560156;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1734;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R545C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=196560156;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr2 196574665 . C T 261.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.54;MQ0=0;OQ=14453.50;QD=44.34;RankSumP=1.00000;SB=-5204.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1152G>A;refseq.codonCoord=384;refseq.end=196574665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T384T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-22;refseq.start=196574665;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 196600940 . T C 161.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.93;MQ0=0;OQ=6401.82;QD=20.39;RankSumP=0.250788;SB=-1889.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.475A>G;refseq.codonCoord=159;refseq.end=196600940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K159E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-12;refseq.start=196600940;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 196631081 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=179;Dels=0.00;HRun=0;HaplotypeScore=11.99;MQ=99.00;MQ0=0;OQ=3823.11;QD=21.36;RankSumP=0.436777;SB=-1119.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.20A>T;refseq.codonCoord=7;refseq.end=196631081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=121;refseq.name=NM_018897;refseq.name2=DNAH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K7I;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=196631081;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr2 196712684 . A G 260.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=99.00;MQ0=0;OQ=6497.66;QD=23.54;RankSumP=0.327590;SB=-2115.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=196712684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_004226;refseq.name2=STK17B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I247I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=85;refseq.start=196712684;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr2 196729521 . T C 234.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=98.61;MQ0=0;OQ=4380.20;QD=17.24;RankSumP=0.0847727;SB=-1177.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.222A>G;refseq.codonCoord=74;refseq.end=196729521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_004226;refseq.name2=STK17B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R74R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=100;refseq.start=196729521;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr2 196729617 . T A 359.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=6.44;MQ=98.77;MQ0=0;OQ=5455.17;QD=18.43;RankSumP=0.0834337;SB=-1471.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.126A>T;refseq.codonCoord=42;refseq.end=196729617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_004226;refseq.name2=STK17B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=196729617;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr2 196826974 . C T 425.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.56;MQ0=0;OQ=4052.56;QD=40.93;RankSumP=1.00000;SB=-1263.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3444G>A;refseq.codonCoord=1148;refseq.end=196826974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3627;refseq.name=NM_020760;refseq.name2=HECW2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1148S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=25;refseq.start=196826974;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr2 196890320 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2357A>C;refseq.codonCoord=786;refseq.end=196890320;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2540;refseq.name=NM_020760;refseq.name2=HECW2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H786P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=19;refseq.start=196890320;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 196892566 . C T 314.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=6.74;MQ=98.81;MQ0=0;OQ=10469.43;QD=39.21;RankSumP=1.00000;SB=-4218.28;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1293G>A;refseq.codonCoord=431;refseq.end=196892566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1476;refseq.name=NM_020760;refseq.name2=HECW2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P431P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=308;refseq.start=196892566;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr2 197581968 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1882T>G;refseq.codonCoord=628;refseq.end=197581968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_153697;refseq.name2=ANKRD44;refseq.positionType=CDS;refseq.proteinCoordStr=p.L628V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=33;refseq.start=197581968;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr2 197966040 . T C 365.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=98.72;MQ0=0;OQ=5559.37;QD=19.85;RankSumP=0.428239;SB=-2075.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3657A>G;refseq.codonCoord=1219;refseq.end=197966040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3705;refseq.name=NM_012433;refseq.name2=SF3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1219V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-100;refseq.start=197966040;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 197973771 . A G 342.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=98.86;MQ0=0;OQ=5659.79;QD=19.58;RankSumP=0.124979;SB=-1970.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2631T>C;refseq.codonCoord=877;refseq.end=197973771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2679;refseq.name=NM_012433;refseq.name2=SF3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G877G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-88;refseq.start=197973771;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr2 197981369 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1086A>C;refseq.codonCoord=362;refseq.end=197981369;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_012433;refseq.name2=SF3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T362T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-32;refseq.start=197981369;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr2 197991550 . T C 247.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.65;MQ0=0;OQ=6228.58;QD=23.15;RankSumP=0.465434;SB=-1459.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.423A>G;refseq.codonCoord=141;refseq.end=197991550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_012433;refseq.name2=SF3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K141K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=197991550;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr2 198060029 . C T 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0203952;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1708G>A;refseq.codingCoordStr_2=c.1708G>A;refseq.codonCoord_1=570;refseq.codonCoord_2=570;refseq.end_1=198060029;refseq.end_2=198060029;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1845;refseq.mrnaCoord_2=1825;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G570S;refseq.proteinCoordStr_2=p.G570S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=139;refseq.spliceDist_2=139;refseq.start_1=198060029;refseq.start_2=198060029;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chr2 198060032 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0548167;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1705G>A;refseq.codingCoordStr_2=c.1705G>A;refseq.codonCoord_1=569;refseq.codonCoord_2=569;refseq.end_1=198060032;refseq.end_2=198060032;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1842;refseq.mrnaCoord_2=1822;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G569R;refseq.proteinCoordStr_2=p.G569R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.start_1=198060032;refseq.start_2=198060032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=soap GT 0/1 chr2 198060050 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.413819;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1687G>A;refseq.codingCoordStr_2=c.1687G>A;refseq.codonCoord_1=563;refseq.codonCoord_2=563;refseq.end_1=198060050;refseq.end_2=198060050;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1824;refseq.mrnaCoord_2=1804;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G563R;refseq.proteinCoordStr_2=p.G563R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=198060050;refseq.start_2=198060050;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=soap GT 0/1 chr2 198062059 . T C 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.487455;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1127A>G;refseq.codingCoordStr_2=c.1127A>G;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.end_1=198062059;refseq.end_2=198062059;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1264;refseq.mrnaCoord_2=1244;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E376G;refseq.proteinCoordStr_2=p.E376G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=198062059;refseq.start_2=198062059;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 1/0 chr2 198062087 . T G 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.292069;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1099A>C;refseq.codingCoordStr_2=c.1099A>C;refseq.codonCoord_1=367;refseq.codonCoord_2=367;refseq.end_1=198062087;refseq.end_2=198062087;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1236;refseq.mrnaCoord_2=1216;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I367L;refseq.proteinCoordStr_2=p.I367L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-117;refseq.spliceDist_2=-117;refseq.start_1=198062087;refseq.start_2=198062087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=soap GT 1/0 chr2 198070263 . T C 338.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=457;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=77.27;MQ0=0;OQ=9578.36;QD=20.96;RankSumP=0.449189;SB=-2405.31;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.273A>G;refseq.codingCoordStr_2=c.273A>G;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=198070263;refseq.end_2=198070263;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=410;refseq.mrnaCoord_2=390;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K91K;refseq.proteinCoordStr_2=p.K91K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=198070263;refseq.start_2=198070263;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr2 198071651 . C T 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=157;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=92.65;MQ0=0;OQ=414.02;QD=2.64;RankSumP=0.170903;SB=80.28;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.167G>A;refseq.codingCoordStr_2=c.167G>A;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.end_1=198071651;refseq.end_2=198071651;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=304;refseq.mrnaCoord_2=284;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G56E;refseq.proteinCoordStr_2=p.G56E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=198071651;refseq.start_2=198071651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap-filterIngatk GT 0/1 chr2 198071746 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=154;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=73.54;MQ0=2;OQ=881.91;QD=5.73;RankSumP=0.000843794;SB=-110.85;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.72G>A;refseq.codingCoordStr_2=c.72G>A;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=198071746;refseq.end_2=198071746;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=209;refseq.mrnaCoord_2=189;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R24R;refseq.proteinCoordStr_2=p.R24R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=198071746;refseq.start_2=198071746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=FilteredInAll GT 0/1 chr2 198071779 . C T 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=113;Dels=0.00;HRun=0;HaplotypeScore=7.08;MQ=81.23;MQ0=0;OQ=129.12;QD=1.14;RankSumP=0.374701;SB=113.40;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.39G>A;refseq.codingCoordStr_2=c.39G>A;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=198071779;refseq.end_2=198071779;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=176;refseq.mrnaCoord_2=156;refseq.name2_1=HSPD1;refseq.name2_2=HSPD1;refseq.name_1=NM_002156;refseq.name_2=NM_199440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P13P;refseq.proteinCoordStr_2=p.P13P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=198071779;refseq.start_2=198071779;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=soap-filterIngatk GT 0/1 chr2 198217196 . G A 157.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=7.95;MQ=98.93;MQ0=0;OQ=4016.95;QD=22.69;RankSumP=0.473003;SB=-1608.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.369C>T;refseq.codonCoord=123;refseq.end=198217196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_144629;refseq.name2=RFTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L123L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=46;refseq.start=198217196;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr2 198279731 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1357G>T;refseq.codonCoord=453;refseq.end=198279731;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1400;refseq.name=NM_138395;refseq.name2=MARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V453L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1400;refseq.start=198279731;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr2 198657687 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1201A>C;refseq.codonCoord=401;refseq.end=198657687;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1599;refseq.name=NM_006226;refseq.name2=PLCL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T401P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=961;refseq.start=198657687;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 201063351 . G A 204.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=8.36;MQ=98.86;MQ0=0;OQ=1069.89;QD=15.28;RankSumP=0.206943;SB=-425.44;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.998C>T;refseq.codonCoord=333;refseq.end=201063351;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_152387;refseq.name2=KCTD18;refseq.positionType=CDS;refseq.proteinCoordStr=p.A333V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=234;refseq.start=201063351;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr2 201144800 . A G 198.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=1398.80;QD=20.27;RankSumP=8.64168e-05;SB=-514.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1486A>G;refseq.codingCoordStr_2=c.1486A>G;refseq.codingCoordStr_3=c.1486A>G;refseq.codonCoord_1=496;refseq.codonCoord_2=496;refseq.codonCoord_3=496;refseq.end_1=201144800;refseq.end_2=201144800;refseq.end_3=201144800;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1599;refseq.mrnaCoord_2=1599;refseq.mrnaCoord_3=1599;refseq.name2_1=SGOL2;refseq.name2_2=SGOL2;refseq.name2_3=SGOL2;refseq.name_1=NM_001160033;refseq.name_2=NM_001160046;refseq.name_3=NM_152524;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I496V;refseq.proteinCoordStr_2=p.I496V;refseq.proteinCoordStr_3=p.I496V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=783;refseq.spliceDist_2=783;refseq.spliceDist_3=783;refseq.start_1=201144800;refseq.start_2=201144800;refseq.start_3=201144800;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=filterInsoap-gatk GT 0/1 chr2 201145293 . A G 251.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1705.04;QD=17.22;RankSumP=0.307677;SB=-693.65;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1979A>G;refseq.codingCoordStr_2=c.1979A>G;refseq.codingCoordStr_3=c.1979A>G;refseq.codonCoord_1=660;refseq.codonCoord_2=660;refseq.codonCoord_3=660;refseq.end_1=201145293;refseq.end_2=201145293;refseq.end_3=201145293;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2092;refseq.mrnaCoord_2=2092;refseq.mrnaCoord_3=2092;refseq.name2_1=SGOL2;refseq.name2_2=SGOL2;refseq.name2_3=SGOL2;refseq.name_1=NM_001160033;refseq.name_2=NM_001160046;refseq.name_3=NM_152524;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N660S;refseq.proteinCoordStr_2=p.N660S;refseq.proteinCoordStr_3=p.N660S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=1276;refseq.spliceDist_2=1276;refseq.spliceDist_3=1276;refseq.start_1=201145293;refseq.start_2=201145293;refseq.start_3=201145293;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr2 201145579 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=3;HaplotypeScore=7.98;MQ=98.73;MQ0=0;OQ=7624.48;QD=38.31;RankSumP=1.00000;SB=-2883.93;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2265T>C;refseq.codingCoordStr_2=c.2265T>C;refseq.codingCoordStr_3=c.2265T>C;refseq.codonCoord_1=755;refseq.codonCoord_2=755;refseq.codonCoord_3=755;refseq.end_1=201145579;refseq.end_2=201145579;refseq.end_3=201145579;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2378;refseq.mrnaCoord_2=2378;refseq.mrnaCoord_3=2378;refseq.name2_1=SGOL2;refseq.name2_2=SGOL2;refseq.name2_3=SGOL2;refseq.name_1=NM_001160033;refseq.name_2=NM_001160046;refseq.name_3=NM_152524;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P755P;refseq.proteinCoordStr_2=p.P755P;refseq.proteinCoordStr_3=p.P755P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-1367;refseq.spliceDist_2=-1367;refseq.spliceDist_3=-1367;refseq.start_1=201145579;refseq.start_2=201145579;refseq.start_3=201145579;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr2 201476483 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=657;Dels=0.00;HRun=3;HaplotypeScore=5.94;MQ=98.61;MQ0=0;OQ=12713.02;QD=19.35;RankSumP=0.361982;SB=-4403.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.971C>T;refseq.codingCoordStr_2=c.890C>T;refseq.codingCoordStr_3=c.832C>T;refseq.codingCoordStr_4=c.890C>T;refseq.codonCoord_1=324;refseq.codonCoord_2=297;refseq.codonCoord_3=278;refseq.codonCoord_4=297;refseq.end_1=201476483;refseq.end_2=201476483;refseq.end_3=201476483;refseq.end_4=201476483;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=0;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1062;refseq.mrnaCoord_2=1011;refseq.mrnaCoord_3=858;refseq.mrnaCoord_4=1214;refseq.name2_1=NIF3L1;refseq.name2_2=NIF3L1;refseq.name2_3=NIF3L1;refseq.name2_4=NIF3L1;refseq.name_1=NM_001136039;refseq.name_2=NM_001142355;refseq.name_3=NM_001142356;refseq.name_4=NM_021824;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T324I;refseq.proteinCoordStr_2=p.T297I;refseq.proteinCoordStr_3=p.L278F;refseq.proteinCoordStr_4=p.T297I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.start_1=201476483;refseq.start_2=201476483;refseq.start_3=201476483;refseq.start_4=201476483;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Phe;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr2 201733866 . A G 281.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=98.28;MQ0=0;OQ=2043.38;QD=16.09;RankSumP=0.293636;SB=-816.57;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1260A>G;refseq.codingCoordStr_2=c.1260A>G;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.end_1=201733866;refseq.end_2=201733866;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1635;refseq.mrnaCoord_2=1712;refseq.name2_1=CFLAR;refseq.name2_2=CFLAR;refseq.name_1=NM_001127183;refseq.name_2=NM_003879;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P420P;refseq.proteinCoordStr_2=p.P420P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=201733866;refseq.start_2=201733866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr2 201758922 . A G 116.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=1399.15;QD=17.06;RankSumP=0.0883640;SB=-582.65;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.177A>G;refseq.codingCoordStr_2=c.177A>G;refseq.codingCoordStr_3=c.177A>G;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=201758922;refseq.end_2=201758922;refseq.end_3=201758922;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=595;refseq.mrnaCoord_2=595;refseq.mrnaCoord_3=595;refseq.name2_1=CASP10;refseq.name2_2=CASP10;refseq.name2_3=CASP10;refseq.name_1=NM_001230;refseq.name_2=NM_032974;refseq.name_3=NM_032977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S59S;refseq.proteinCoordStr_2=p.S59S;refseq.proteinCoordStr_3=p.S59S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-171;refseq.spliceDist_2=-171;refseq.spliceDist_3=-171;refseq.start_1=201758922;refseq.start_2=201758922;refseq.start_3=201758922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chr2 201831240 . A G 274.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1890.77;QD=17.67;RankSumP=0.000264401;SB=-889.24;SecondBestBaseQ=33;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_5=c.41A>G;refseq.codonCoord_5=14;refseq.end_1=201839418;refseq.end_2=201839418;refseq.end_3=201839418;refseq.end_4=201839444;refseq.end_5=201831240;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=242;refseq.name2_1=CASP8;refseq.name2_2=CASP8;refseq.name2_3=CASP8;refseq.name2_4=CASP8;refseq.name2_5=CASP8;refseq.name_1=NM_001080124;refseq.name_2=NM_001228;refseq.name_3=NM_033358;refseq.name_4=NM_033355;refseq.name_5=NM_001080125;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.K14R;refseq.referenceAA_5=Lys;refseq.referenceCodon_5=AAA;refseq.spliceDist_5=-111;refseq.start_1=201807091;refseq.start_2=201807091;refseq.start_3=201807091;refseq.start_4=201807091;refseq.start_5=201831240;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Arg;refseq.variantCodon_5=AGA;set=filterInsoap-gatk GT 0/1 chr2 201923737 . C G 301.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=98.16;MQ0=0;OQ=2326.63;QD=17.63;RankSumP=0.209509;SB=-993.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.127G>C;refseq.codingCoordStr_2=c.127G>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=201923737;refseq.end_2=201923737;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=571;refseq.name2_1=ALS2CR12;refseq.name2_2=ALS2CR12;refseq.name_1=NM_001127391;refseq.name_2=NM_139163;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V43L;refseq.proteinCoordStr_2=p.V43L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=201923737;refseq.start_2=201923737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr2 201953965 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=2.25193e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2291T>C;refseq.codonCoord=764;refseq.end=201953965;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2737;refseq.name=NM_015049;refseq.name2=TRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L764P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=222;refseq.start=201953965;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 201960795 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1572T>G;refseq.codonCoord=524;refseq.end=201960795;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2018;refseq.name=NM_015049;refseq.name2=TRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C524W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-125;refseq.start=201960795;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr2 201968294 . G A 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=23.87;MQ=98.75;MQ0=0;OQ=16925.20;QD=41.18;RankSumP=1.00000;SB=-4019.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.888C>T;refseq.codonCoord=296;refseq.end=201968294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_015049;refseq.name2=TRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H296H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-13;refseq.start=201968294;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 201972401 . C T 349.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=98.94;MQ0=0;OQ=9675.42;QD=40.48;RankSumP=1.00000;SB=-4329.40;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.424G>A;refseq.codonCoord=142;refseq.end=201972401;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_015049;refseq.name2=TRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V142I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-57;refseq.start=201972401;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 202045975 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=618;Dels=0.00;HRun=2;HaplotypeScore=20.64;MQ=89.55;MQ0=31;OQ=9084.67;QD=14.70;RankSumP=0.169238;SB=-2723.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.246A>G;refseq.codonCoord=82;refseq.end=202045975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_018571;refseq.name2=STRADB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T82T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=53;refseq.start=202045975;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr2 202050647 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=814;Dels=0.00;HRun=1;HaplotypeScore=24.11;MQ=73.97;MQ0=276;OQ=10433.94;QD=12.82;RankSumP=0.163647;SB=-3818.09;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.609G>T;refseq.codonCoord=203;refseq.end=202050647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_018571;refseq.name2=STRADB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L203L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=61;refseq.start=202050647;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr2 202118545 . A T 183.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.40;MQ0=0;OQ=2291.21;QD=16.72;RankSumP=0.345142;SB=-1079.22;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1128T>A;refseq.codingCoordStr_2=c.1128T>A;refseq.codingCoordStr_3=c.1128T>A;refseq.codingCoordStr_4=c.1128T>A;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.codonCoord_3=376;refseq.codonCoord_4=376;refseq.end_1=202118545;refseq.end_2=202118545;refseq.end_3=202118545;refseq.end_4=202118545;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1180;refseq.mrnaCoord_3=1180;refseq.mrnaCoord_4=1180;refseq.name2_1=ALS2CR11;refseq.name2_2=ALS2CR11;refseq.name2_3=ALS2CR11;refseq.name2_4=ALS2CR11;refseq.name_1=NM_001168216;refseq.name_2=NM_001168217;refseq.name_3=NM_001168221;refseq.name_4=NM_152525;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H376Q;refseq.proteinCoordStr_2=p.H376Q;refseq.proteinCoordStr_3=p.H376Q;refseq.proteinCoordStr_4=p.H376Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=202118545;refseq.start_2=202118545;refseq.start_3=202118545;refseq.start_4=202118545;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 0/1 chr2 202177606 . C T 263.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=10.07;MQ=98.79;MQ0=0;OQ=15667.97;QD=41.02;RankSumP=1.00000;SB=-6782.97;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.291G>A;refseq.codingCoordStr_2=c.291G>A;refseq.codingCoordStr_3=c.291G>A;refseq.codingCoordStr_4=c.291G>A;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.codonCoord_3=97;refseq.codonCoord_4=97;refseq.end_1=202177606;refseq.end_2=202177606;refseq.end_3=202177606;refseq.end_4=202177606;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=343;refseq.mrnaCoord_2=343;refseq.mrnaCoord_3=343;refseq.mrnaCoord_4=343;refseq.name2_1=ALS2CR11;refseq.name2_2=ALS2CR11;refseq.name2_3=ALS2CR11;refseq.name2_4=ALS2CR11;refseq.name_1=NM_001168216;refseq.name_2=NM_001168217;refseq.name_3=NM_001168221;refseq.name_4=NM_152525;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T97T;refseq.proteinCoordStr_2=p.T97T;refseq.proteinCoordStr_3=p.T97T;refseq.proteinCoordStr_4=p.T97T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=202177606;refseq.start_2=202177606;refseq.start_3=202177606;refseq.start_4=202177606;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/1 chr2 202284066 . G A 326.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.87;MQ0=0;OQ=7788.45;QD=41.21;RankSumP=1.00000;SB=-3407.57;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4015C>T;refseq.codonCoord=1339;refseq.end=202284066;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4371;refseq.name=NM_020919;refseq.name2=ALS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1339L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=11;refseq.start=202284066;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr2 202298421 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3250T>G;refseq.codonCoord=1084;refseq.end=202298421;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3606;refseq.name=NM_020919;refseq.name2=ALS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1084D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=202298421;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr2 202299630 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr2;refseq.codingCoordStr=c.3182+2;refseq.end=202299630;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020919;refseq.name2=ALS2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=202299630;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr2 202306358 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=98.69;MQ0=0;OQ=1847.83;QD=14.32;RankSumP=0.415373;SB=-808.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2466G>A;refseq.codonCoord=822;refseq.end=202306358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2822;refseq.name=NM_020919;refseq.name2=ALS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V822V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=49;refseq.start=202306358;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr2 202314777 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2216C>T;refseq.codonCoord=739;refseq.end=202314777;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2572;refseq.name=NM_020919;refseq.name2=ALS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A739V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=46;refseq.start=202314777;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr2 202333860 . C T 156.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=4106.02;QD=17.70;RankSumP=0.188467;SB=-624.90;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1102G>A;refseq.codingCoordStr_2=c.1102G>A;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.end_1=202333860;refseq.end_2=202333860;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1458;refseq.mrnaCoord_2=1458;refseq.name2_1=ALS2;refseq.name2_2=ALS2;refseq.name_1=NM_001135745;refseq.name_2=NM_020919;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V368M;refseq.proteinCoordStr_2=p.V368M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=927;refseq.spliceDist_2=-12;refseq.start_1=202333860;refseq.start_2=202333860;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr2 203128449 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1816A>C;refseq.codonCoord=606;refseq.end=203128449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2964;refseq.name=NM_001204;refseq.name2=BMPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T606P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=230;refseq.start=203128449;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 203770306 . A G 251.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=15.42;MQ=98.69;MQ0=0;OQ=4649.46;QD=17.81;RankSumP=0.172542;SB=-1330.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.6988A>G;refseq.codonCoord=2330;refseq.end=203770306;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7321;refseq.name=NM_001114132;refseq.name2=NBEAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2330V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=37;refseq.start=203770306;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr2 203824935 . C T 180.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.83;MQ0=0;OQ=1081.81;QD=15.45;RankSumP=0.363104;SB=-187.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.290C>T;refseq.codonCoord=97;refseq.end=203824935;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_177538;refseq.name2=CYP20A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S97L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=203824935;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr2 203862797 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=2;HaplotypeScore=1.88;MQ=99.00;MQ0=0;OQ=1525.13;QD=9.71;RankSumP=0.428845;SB=-630.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1036C>T;refseq.codonCoord=346;refseq.end=203862797;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1658;refseq.name=NM_177538;refseq.name2=CYP20A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L346F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-48;refseq.start=203862797;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr2 204012459 . G A 119.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=4.08;MQ=98.68;MQ0=0;OQ=3191.79;QD=13.64;RankSumP=0.000453448;SB=-1295.39;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3699C>T;refseq.codonCoord=1233;refseq.end=204012459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3924;refseq.name=NM_213589;refseq.name2=RAPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1233P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=1923;refseq.start=204012459;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr2 204013338 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=556.89;QD=12.66;RankSumP=0.0252357;SB=-136.63;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2820A>G;refseq.codonCoord=940;refseq.end=204013338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3045;refseq.name=NM_213589;refseq.name2=RAPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P940P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1044;refseq.start=204013338;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr2 204030543 . T C 276 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=7.25;MQ=98.59;MQ0=0;OQ=8282.20;QD=41.62;RankSumP=1.00000;SB=-3883.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1269A>G;refseq.codingCoordStr_2=c.1113A>G;refseq.codonCoord_1=423;refseq.codonCoord_2=371;refseq.end_1=204030543;refseq.end_2=204030543;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1494;refseq.mrnaCoord_2=1338;refseq.name2_1=RAPH1;refseq.name2_2=RAPH1;refseq.name_1=NM_203365;refseq.name_2=NM_213589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K423K;refseq.proteinCoordStr_2=p.K371K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=204030543;refseq.start_2=204030543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr2 204440959 . A G 330.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=13.18;MQ=98.76;MQ0=0;OQ=7160.09;QD=18.84;RankSumP=0.00330117;SB=-2629.69;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.49A>G;refseq.codingCoordStr_2=c.49A>G;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=204440959;refseq.end_2=204440959;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=206;refseq.mrnaCoord_2=206;refseq.name2_1=CTLA4;refseq.name2_2=CTLA4;refseq.name_1=NM_001037631;refseq.name_2=NM_005214;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T17A;refseq.proteinCoordStr_2=p.T17A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=204440959;refseq.start_2=204440959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 0/1 chr2 204532569 . A C 283.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.63;MQ0=0;OQ=4612.78;QD=18.68;RankSumP=0.486234;SB=-1908.05;SecondBestBaseQ=33;refseq.chr=chr2;refseq.codingCoordStr=c.*2A>C;refseq.end=204532569;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=669;refseq.name=NM_012092;refseq.name2=ICOS;refseq.positionType=utr3;refseq.spliceDist=16;refseq.start=204532569;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr2 205538236 . C T 132.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=10.25;MQ=98.25;MQ0=0;OQ=5002.28;QD=31.07;RankSumP=1.00000;SB=-1746.81;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.339C>T;refseq.codingCoordStr_2=c.339C>T;refseq.codingCoordStr_3=c.339C>T;refseq.codonCoord_1=113;refseq.codonCoord_2=113;refseq.codonCoord_3=113;refseq.end_1=205538236;refseq.end_2=205538236;refseq.end_3=205538236;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=546;refseq.mrnaCoord_2=546;refseq.mrnaCoord_3=546;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_057177;refseq.name_2=NM_152526;refseq.name_3=NM_205863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A113A;refseq.proteinCoordStr_2=p.A113A;refseq.proteinCoordStr_3=p.A113A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=205538236;refseq.start_2=205538236;refseq.start_3=205538236;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr2 205620648 . T C 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=157.23;QD=11.23;RankSumP=0.268007;SB=-81.33;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.494T>C;refseq.codingCoordStr_2=c.494T>C;refseq.codingCoordStr_3=c.494T>C;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.codonCoord_3=165;refseq.end_1=205620648;refseq.end_2=205620648;refseq.end_3=205620648;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=701;refseq.mrnaCoord_2=701;refseq.mrnaCoord_3=701;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_057177;refseq.name_2=NM_152526;refseq.name_3=NM_205863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L165P;refseq.proteinCoordStr_2=p.L165P;refseq.proteinCoordStr_3=p.L165P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=205620648;refseq.start_2=205620648;refseq.start_3=205620648;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr2 205677465 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=180;Dels=0.00;HRun=2;HaplotypeScore=6.00;MQ=98.82;MQ0=0;OQ=7795.14;QD=43.31;RankSumP=1.00000;SB=-2453.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.575G>A;refseq.codingCoordStr_2=c.575G>A;refseq.codingCoordStr_3=c.575G>A;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.codonCoord_3=192;refseq.end_1=205677465;refseq.end_2=205677465;refseq.end_3=205677465;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=782;refseq.mrnaCoord_2=782;refseq.mrnaCoord_3=782;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_057177;refseq.name_2=NM_152526;refseq.name_3=NM_205863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R192K;refseq.proteinCoordStr_2=p.R192K;refseq.proteinCoordStr_3=p.R192K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.start_1=205677465;refseq.start_2=205677465;refseq.start_3=205677465;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/1 chr2 205698598 . C T 229.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=13.30;MQ=98.90;MQ0=0;OQ=14903.96;QD=37.64;RankSumP=1.00000;SB=-4912.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1326C>T;refseq.codingCoordStr_2=c.1326C>T;refseq.codingCoordStr_3=c.1326C>T;refseq.codonCoord_1=442;refseq.codonCoord_2=442;refseq.codonCoord_3=442;refseq.end_1=205698598;refseq.end_2=205698598;refseq.end_3=205698598;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1533;refseq.mrnaCoord_2=1533;refseq.mrnaCoord_3=1533;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_057177;refseq.name_2=NM_152526;refseq.name_3=NM_205863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T442T;refseq.proteinCoordStr_2=p.T442T;refseq.proteinCoordStr_3=p.T442T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=205698598;refseq.start_2=205698598;refseq.start_3=205698598;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/1 chr2 206013609 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=185;Dels=0.00;HRun=2;HaplotypeScore=22.76;MQ=98.39;MQ0=0;OQ=152.37;QD=0.82;RankSumP=0.00000;SB=176.62;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_2=c.2805C>A;refseq.codingCoordStr_3=c.2826C>A;refseq.codonCoord_2=935;refseq.codonCoord_3=942;refseq.end_1=206072854;refseq.end_2=206013609;refseq.end_3=206013609;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=3012;refseq.mrnaCoord_3=3033;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_205863;refseq.name_2=NM_057177;refseq.name_3=NM_152526;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N935K;refseq.proteinCoordStr_3=p.N942K;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=205974103;refseq.start_2=206013609;refseq.start_3=206013609;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 1/0 chr2 206072982 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=873;Dels=0.00;HRun=1;HaplotypeScore=8.30;MQ=98.55;MQ0=0;OQ=15840.60;QD=18.15;RankSumP=0.0915278;SB=-5955.25;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2955T>C;refseq.codingCoordStr_2=c.2976T>C;refseq.codingCoordStr_3=c.2859T>C;refseq.codonCoord_1=985;refseq.codonCoord_2=992;refseq.codonCoord_3=953;refseq.end_1=206072982;refseq.end_2=206072982;refseq.end_3=206072982;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3162;refseq.mrnaCoord_2=3183;refseq.mrnaCoord_3=3066;refseq.name2_1=PARD3B;refseq.name2_2=PARD3B;refseq.name2_3=PARD3B;refseq.name_1=NM_057177;refseq.name_2=NM_152526;refseq.name_3=NM_205863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S985S;refseq.proteinCoordStr_2=p.S992S;refseq.proteinCoordStr_3=p.S953S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.start_1=206072982;refseq.start_2=206072982;refseq.start_3=206072982;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr2 206289278 . G A 355.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=2.52;MQ=98.80;MQ0=0;OQ=10259.24;QD=41.04;RankSumP=1.00000;SB=-3438.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.368G>A;refseq.codingCoordStr_2=c.368G>A;refseq.codingCoordStr_3=c.368G>A;refseq.codingCoordStr_4=c.368G>A;refseq.codingCoordStr_5=c.368G>A;refseq.codingCoordStr_6=c.368G>A;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.codonCoord_4=123;refseq.codonCoord_5=123;refseq.codonCoord_6=123;refseq.end_1=206289278;refseq.end_2=206289278;refseq.end_3=206289278;refseq.end_4=206289278;refseq.end_5=206289278;refseq.end_6=206289278;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1159;refseq.mrnaCoord_2=1159;refseq.mrnaCoord_3=1159;refseq.mrnaCoord_4=1159;refseq.mrnaCoord_5=1159;refseq.mrnaCoord_6=1159;refseq.name2_1=NRP2;refseq.name2_2=NRP2;refseq.name2_3=NRP2;refseq.name2_4=NRP2;refseq.name2_5=NRP2;refseq.name2_6=NRP2;refseq.name_1=NM_003872;refseq.name_2=NM_018534;refseq.name_3=NM_201264;refseq.name_4=NM_201266;refseq.name_5=NM_201267;refseq.name_6=NM_201279;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.R123K;refseq.proteinCoordStr_2=p.R123K;refseq.proteinCoordStr_3=p.R123K;refseq.proteinCoordStr_4=p.R123K;refseq.proteinCoordStr_5=p.R123K;refseq.proteinCoordStr_6=p.R123K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.referenceCodon_5=AGG;refseq.referenceCodon_6=AGG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.spliceDist_4=-66;refseq.spliceDist_5=-66;refseq.spliceDist_6=-66;refseq.start_1=206289278;refseq.start_2=206289278;refseq.start_3=206289278;refseq.start_4=206289278;refseq.start_5=206289278;refseq.start_6=206289278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;refseq.variantCodon_5=AAG;refseq.variantCodon_6=AAG;set=Intersection GT 1/1 chr2 206300940 . T C 408.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.84;MQ0=0;OQ=3931.83;QD=20.27;RankSumP=1.00000;SB=-1722.09;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.1071T>C;refseq.codingCoordStr_2=c.1071T>C;refseq.codingCoordStr_3=c.1071T>C;refseq.codingCoordStr_4=c.1071T>C;refseq.codingCoordStr_5=c.1071T>C;refseq.codingCoordStr_6=c.1071T>C;refseq.codonCoord_1=357;refseq.codonCoord_2=357;refseq.codonCoord_3=357;refseq.codonCoord_4=357;refseq.codonCoord_5=357;refseq.codonCoord_6=357;refseq.end_1=206300940;refseq.end_2=206300940;refseq.end_3=206300940;refseq.end_4=206300940;refseq.end_5=206300940;refseq.end_6=206300940;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1862;refseq.mrnaCoord_2=1862;refseq.mrnaCoord_3=1862;refseq.mrnaCoord_4=1862;refseq.mrnaCoord_5=1862;refseq.mrnaCoord_6=1862;refseq.name2_1=NRP2;refseq.name2_2=NRP2;refseq.name2_3=NRP2;refseq.name2_4=NRP2;refseq.name2_5=NRP2;refseq.name2_6=NRP2;refseq.name_1=NM_003872;refseq.name_2=NM_018534;refseq.name_3=NM_201264;refseq.name_4=NM_201266;refseq.name_5=NM_201267;refseq.name_6=NM_201279;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Y357Y;refseq.proteinCoordStr_2=p.Y357Y;refseq.proteinCoordStr_3=p.Y357Y;refseq.proteinCoordStr_4=p.Y357Y;refseq.proteinCoordStr_5=p.Y357Y;refseq.proteinCoordStr_6=p.Y357Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.referenceCodon_6=TAT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.spliceDist_4=-76;refseq.spliceDist_5=-76;refseq.spliceDist_6=-76;refseq.start_1=206300940;refseq.start_2=206300940;refseq.start_3=206300940;refseq.start_4=206300940;refseq.start_5=206300940;refseq.start_6=206300940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;refseq.variantCodon_6=TAC;set=Intersection GT 1/1 chr2 206316284 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.81;MQ0=0;OQ=1348.47;QD=29.31;RankSumP=1.00000;SB=-545.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.1404T>C;refseq.codingCoordStr_2=c.1404T>C;refseq.codingCoordStr_3=c.1404T>C;refseq.codingCoordStr_4=c.1404T>C;refseq.codingCoordStr_5=c.1404T>C;refseq.codingCoordStr_6=c.1404T>C;refseq.codonCoord_1=468;refseq.codonCoord_2=468;refseq.codonCoord_3=468;refseq.codonCoord_4=468;refseq.codonCoord_5=468;refseq.codonCoord_6=468;refseq.end_1=206316284;refseq.end_2=206316284;refseq.end_3=206316284;refseq.end_4=206316284;refseq.end_5=206316284;refseq.end_6=206316284;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2195;refseq.mrnaCoord_2=2195;refseq.mrnaCoord_3=2195;refseq.mrnaCoord_4=2195;refseq.mrnaCoord_5=2195;refseq.mrnaCoord_6=2195;refseq.name2_1=NRP2;refseq.name2_2=NRP2;refseq.name2_3=NRP2;refseq.name2_4=NRP2;refseq.name2_5=NRP2;refseq.name2_6=NRP2;refseq.name_1=NM_003872;refseq.name_2=NM_018534;refseq.name_3=NM_201264;refseq.name_4=NM_201266;refseq.name_5=NM_201267;refseq.name_6=NM_201279;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V468V;refseq.proteinCoordStr_2=p.V468V;refseq.proteinCoordStr_3=p.V468V;refseq.proteinCoordStr_4=p.V468V;refseq.proteinCoordStr_5=p.V468V;refseq.proteinCoordStr_6=p.V468V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.referenceCodon_6=GTT;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.spliceDist_4=113;refseq.spliceDist_5=113;refseq.spliceDist_6=113;refseq.start_1=206316284;refseq.start_2=206316284;refseq.start_3=206316284;refseq.start_4=206316284;refseq.start_5=206316284;refseq.start_6=206316284;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;set=Intersection GT 1/1 chr2 206318836 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1763A>G;refseq.codingCoordStr_2=c.1763A>G;refseq.codingCoordStr_3=c.1763A>G;refseq.codingCoordStr_4=c.1763A>G;refseq.codingCoordStr_5=c.1763A>G;refseq.codonCoord_1=588;refseq.codonCoord_2=588;refseq.codonCoord_3=588;refseq.codonCoord_4=588;refseq.codonCoord_5=588;refseq.end_1=206318836;refseq.end_2=206318836;refseq.end_3=206318836;refseq.end_4=206318836;refseq.end_5=206318836;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2554;refseq.mrnaCoord_2=2554;refseq.mrnaCoord_3=2554;refseq.mrnaCoord_4=2554;refseq.mrnaCoord_5=2554;refseq.name2_1=NRP2;refseq.name2_2=NRP2;refseq.name2_3=NRP2;refseq.name2_4=NRP2;refseq.name2_5=NRP2;refseq.name_1=NM_003872;refseq.name_2=NM_018534;refseq.name_3=NM_201266;refseq.name_4=NM_201267;refseq.name_5=NM_201279;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E588G;refseq.proteinCoordStr_2=p.E588G;refseq.proteinCoordStr_3=p.E588G;refseq.proteinCoordStr_4=p.E588G;refseq.proteinCoordStr_5=p.E588G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.spliceDist_4=-24;refseq.spliceDist_5=-24;refseq.start_1=206318836;refseq.start_2=206318836;refseq.start_3=206318836;refseq.start_4=206318836;refseq.start_5=206318836;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr2 206714921 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=10.99;MQ=98.93;MQ0=0;OQ=5401.84;QD=20.70;RankSumP=0.208848;SB=-1097.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1251A>G;refseq.codonCoord=417;refseq.end=206714921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_005006;refseq.name2=NDUFS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R417R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-12;refseq.start=206714921;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr2 206717008 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.52;MQ0=0;OQ=3120.76;QD=11.87;RankSumP=0.0724725;SB=-1135.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.966G>T;refseq.codonCoord=322;refseq.end=206717008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_005006;refseq.name2=NDUFS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A322A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-22;refseq.start=206717008;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr2 206749298 . T C 314.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=14.44;MQ=98.91;MQ0=0;OQ=7635.89;QD=19.19;RankSumP=0.262131;SB=-2664.57;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.919A>G;refseq.codingCoordStr_2=c.919A>G;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.end_1=206749298;refseq.end_2=206749298;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1305;refseq.name2_1=GPR1;refseq.name2_2=GPR1;refseq.name_1=NM_001098199;refseq.name_2=NM_005279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I307V;refseq.proteinCoordStr_2=p.I307V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=947;refseq.spliceDist_2=947;refseq.start_1=206749298;refseq.start_2=206749298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr2 206749686 . G A 320.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=13.69;MQ=98.92;MQ0=0;OQ=6610.75;QD=17.96;RankSumP=0.0671767;SB=-2153.14;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.531C>T;refseq.codingCoordStr_2=c.531C>T;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=206749686;refseq.end_2=206749686;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=913;refseq.mrnaCoord_2=917;refseq.name2_1=GPR1;refseq.name2_2=GPR1;refseq.name_1=NM_001098199;refseq.name_2=NM_005279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D177D;refseq.proteinCoordStr_2=p.D177D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=559;refseq.spliceDist_2=559;refseq.start_1=206749686;refseq.start_2=206749686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr2 206750178 . T C 235.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.58;MQ0=0;OQ=1051.11;QD=17.23;RankSumP=0.259931;SB=-327.12;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.39A>G;refseq.codingCoordStr_2=c.39A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=206750178;refseq.end_2=206750178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=421;refseq.mrnaCoord_2=425;refseq.name2_1=GPR1;refseq.name2_2=GPR1;refseq.name_1=NM_001098199;refseq.name_2=NM_005279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E13E;refseq.proteinCoordStr_2=p.E13E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=206750178;refseq.start_2=206750178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr2 207311479 . T G 235.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1741.26;QD=17.07;RankSumP=0.364544;SB=-755.68;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1530A>C;refseq.codonCoord=510;refseq.end=207311479;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1585;refseq.name=NM_001039845;refseq.name2=MDH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E510D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=207311479;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr2 207330004 . A G 247.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=10272.88;QD=40.93;RankSumP=1.00000;SB=-3819.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.276T>C;refseq.codonCoord=92;refseq.end=207330004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_001039845;refseq.name2=MDH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y92Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=207330004;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 207528521 . G A 348.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.88;MQ0=0;OQ=7363.48;QD=41.37;RankSumP=1.00000;SB=-2401.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.255G>A;refseq.codonCoord=85;refseq.end=207528521;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_173077;refseq.name2=CPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.M85I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-13;refseq.start=207528521;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr2 207532629 . T G 342.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=98.92;MQ0=0;OQ=9659.53;QD=40.93;RankSumP=1.00000;SB=-3012.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.402T>G;refseq.codonCoord=134;refseq.end=207532629;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_173077;refseq.name2=CPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.S134R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=30;refseq.start=207532629;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr2 207533901 . A T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=711;Dels=0.00;HRun=1;HaplotypeScore=19.54;MQ=98.94;MQ0=0;OQ=30182.25;QD=42.45;RankSumP=1.00000;SB=-7385.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.564A>T;refseq.codonCoord=188;refseq.end=207533901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_173077;refseq.name2=CPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.A188A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-11;refseq.start=207533901;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 207542228 . A G 305.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=6.21;MQ=98.41;MQ0=0;OQ=8718.50;QD=37.74;RankSumP=1.00000;SB=-2765.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.948A>G;refseq.codonCoord=316;refseq.end=207542228;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_173077;refseq.name2=CPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.T316T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=86;refseq.start=207542228;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 207696858 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=23.07;MQ=85.86;MQ0=25;OQ=13848.11;QD=31.54;RankSumP=1.00000;SB=-4603.10;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.618G>A;refseq.codonCoord=206;refseq.end=207696858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_003709;refseq.name2=KLF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-116;refseq.start=207696858;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 208186097 . G A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=526;Dels=0.00;HRun=1;HaplotypeScore=7.17;MQ=98.88;MQ0=0;OQ=22552.29;QD=42.88;RankSumP=1.00000;SB=-10165.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.575C>T;refseq.codingCoordStr_2=c.575C>T;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=208186097;refseq.end_2=208186097;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=735;refseq.name2_1=FAM119A;refseq.name2_2=FAM119A;refseq.name_1=NM_001127395;refseq.name_2=NM_145280;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T192I;refseq.proteinCoordStr_2=p.T192I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=316;refseq.spliceDist_2=316;refseq.start_1=208186097;refseq.start_2=208186097;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr2 208186201 . C T 234.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=389;Dels=0.00;HRun=1;HaplotypeScore=6.04;MQ=98.78;MQ0=0;OQ=16819.70;QD=43.24;RankSumP=1.00000;SB=-5618.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.471G>A;refseq.codingCoordStr_2=c.471G>A;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=208186201;refseq.end_2=208186201;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=631;refseq.name2_1=FAM119A;refseq.name2_2=FAM119A;refseq.name_1=NM_001127395;refseq.name_2=NM_145280;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q157Q;refseq.proteinCoordStr_2=p.Q157Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=212;refseq.spliceDist_2=212;refseq.start_1=208186201;refseq.start_2=208186201;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr2 208186300 . A G 217.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=10587.79;QD=42.02;RankSumP=1.00000;SB=-5219.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.372T>C;refseq.codingCoordStr_2=c.372T>C;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=208186300;refseq.end_2=208186300;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=589;refseq.mrnaCoord_2=532;refseq.name2_1=FAM119A;refseq.name2_2=FAM119A;refseq.name_1=NM_001127395;refseq.name_2=NM_145280;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T124T;refseq.proteinCoordStr_2=p.T124T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=208186300;refseq.start_2=208186300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr2 208340109 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=2;RankSumP=0.670879;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1600A>C;refseq.codonCoord=534;refseq.end=208340109;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2010;refseq.name=NM_003468;refseq.name2=FZD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T534P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1855;refseq.start=208340109;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 208341658 . T C 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=3.05;MQ=96.24;MQ0=0;OQ=846.70;QD=29.20;RankSumP=1.00000;SB=-79.36;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.51A>G;refseq.codonCoord=17;refseq.end=208341658;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_003468;refseq.name2=FZD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L17L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=306;refseq.start=208341658;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 208550209 . A G 167.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=16.89;MQ=98.68;MQ0=0;OQ=6592.13;QD=18.01;RankSumP=0.253863;SB=-2724.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.957T>C;refseq.codonCoord=319;refseq.end=208550209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1447;refseq.name=NM_001080475;refseq.name2=PLEKHM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N319N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=347;refseq.start=208550209;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr2 208694882 . T C 336.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.93;MQ0=0;OQ=6075.79;QD=41.90;RankSumP=1.00000;SB=-2652.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.285A>G;refseq.codonCoord=95;refseq.end=208694882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_006891;refseq.name2=CRYGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.R95R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=33;refseq.start=208694882;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr2 208697282 . A G 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=48.54;MQ0=8;QD=0.71;RankSumP=0.592555;SB=8.06;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.51T>C;refseq.codonCoord=17;refseq.end=208697282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_006891;refseq.name2=CRYGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y17Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=42;refseq.start=208697282;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr2 208715804 . T G 429.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5114.85;QD=40.27;RankSumP=1.00000;SB=-2462.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.331A>C;refseq.codonCoord=111;refseq.end=208715804;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_005210;refseq.name2=CRYGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I111L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=79;refseq.start=208715804;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr2 208718803 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=208;Dels=0.00;HRun=3;HaplotypeScore=20.64;MQ=97.42;MQ0=0;OQ=2265.49;QD=10.89;RankSumP=0.453136;SB=-543.77;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=208718803;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_005210;refseq.name2=CRYGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P64P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-61;refseq.start=208718803;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr2 208744957 . T C 291.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3488.97;QD=41.05;RankSumP=1.00000;SB=-1156.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.454A>G;refseq.codonCoord=152;refseq.end=208744957;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_001099334;refseq.name2=C2orf80;refseq.positionType=CDS;refseq.proteinCoordStr=p.S152G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=208744957;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr2 208745023 . A G 292.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=3233.06;QD=38.95;RankSumP=1.00000;SB=-1041.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.388T>C;refseq.codonCoord=130;refseq.end=208745023;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_001099334;refseq.name2=C2orf80;refseq.positionType=CDS;refseq.proteinCoordStr=p.C130R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=22;refseq.start=208745023;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr2 208893225 . G A 160.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=98.75;MQ0=0;OQ=7241.62;QD=44.43;RankSumP=1.00000;SB=-609.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2087G>A;refseq.codonCoord=696;refseq.end=208893225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2245;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S696N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=208893225;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 208893244 . C T 113.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.78;MQ0=0;OQ=11795.21;QD=43.52;RankSumP=1.00000;SB=-2656.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2106C>T;refseq.codonCoord=702;refseq.end=208893244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2264;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P702P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=24;refseq.start=208893244;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr2 208898575 . T C 300.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=7.31;MQ=98.95;MQ0=0;OQ=8621.51;QD=37.81;RankSumP=1.00000;SB=-3698.10;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2795T>C;refseq.codonCoord=932;refseq.end=208898575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2953;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.L932S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=337;refseq.start=208898575;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 208898764 . A T 336.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.32;MQ0=0;OQ=5505.08;QD=39.32;RankSumP=1.00000;SB=-2600.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2984A>T;refseq.codonCoord=995;refseq.end=208898764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3142;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q995L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=526;refseq.start=208898764;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 208898773 . C G 145.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.34;MQ0=0;OQ=6883.92;QD=47.80;RankSumP=1.00000;SB=-2632.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2993C>G;refseq.codonCoord=998;refseq.end=208898773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3151;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T998S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=535;refseq.start=208898773;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr2 208899327 . C A 79.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.50;MQ0=0;OQ=6508.43;QD=38.51;RankSumP=1.00000;SB=-2337.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3547C>A;refseq.codonCoord=1183;refseq.end=208899327;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3705;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1183K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-72;refseq.start=208899327;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 208899344 . T C 425.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.64;MQ0=0;OQ=7636.59;QD=39.16;RankSumP=1.00000;SB=-3062.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3564T>C;refseq.codonCoord=1188;refseq.end=208899344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3722;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1188N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-55;refseq.start=208899344;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr2 208911494 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=10.79;MQ=98.51;MQ0=0;OQ=2320.84;QD=12.03;RankSumP=0.258558;SB=-761.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4629A>G;refseq.codonCoord=1543;refseq.end=208911494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4787;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1543A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=18;refseq.start=208911494;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr2 208920952 . G A 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=617;Dels=0.00;HRun=0;HaplotypeScore=8.56;MQ=98.88;MQ0=0;OQ=26762.13;QD=43.37;RankSumP=1.00000;SB=-12581.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5334G>A;refseq.codonCoord=1778;refseq.end=208920952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5492;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1778T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-41;refseq.start=208920952;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr2 208923015 . A G 238.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=13.00;MQ=98.67;MQ0=0;OQ=10586.26;QD=38.92;RankSumP=1.00000;SB=-5255.64;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5397A>G;refseq.codonCoord=1799;refseq.end=208923015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5555;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1799T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=23;refseq.start=208923015;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 208923831 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=464;Dels=0.00;HRun=1;HaplotypeScore=10.02;MQ=98.51;MQ0=0;OQ=18066.24;QD=38.94;RankSumP=1.00000;SB=-7793.90;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.5526A>G;refseq.codonCoord=1842;refseq.end=208923831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5684;refseq.name=NM_015040;refseq.name2=PIKFYVE;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1842E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-86;refseq.start=208923831;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 209010579 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.251T>G;refseq.codonCoord=84;refseq.end=209010579;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_005048;refseq.name2=PTH2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.V84G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-39;refseq.start=209010579;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr2 209066272 . C T 132.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=98.27;MQ0=0;OQ=6104.74;QD=31.47;RankSumP=1.00000;SB=-2859.24;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1296C>T;refseq.codonCoord=432;refseq.end=209066272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1509;refseq.name=NM_005048;refseq.name2=PTH2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.N432N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=39;refseq.start=209066272;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr2 210768295 . T G 289.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=1755.92;QD=18.68;RankSumP=0.300171;SB=-714.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.997A>C;refseq.codonCoord=333;refseq.end=210768295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_001608;refseq.name2=ACADL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K333Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=13;refseq.start=210768295;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr2 211044930 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=100;Dels=0.00;HRun=3;HaplotypeScore=10.37;MQ=97.92;MQ0=0;OQ=53.69;QD=0.54;RankSumP=0.00000;SB=167.60;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.197C>G;refseq.codingCoordStr_2=c.197C>G;refseq.codingCoordStr_3=c.197C>G;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.codonCoord_3=66;refseq.end_1=211044930;refseq.end_2=211044930;refseq.end_3=211044930;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=272;refseq.mrnaCoord_2=267;refseq.mrnaCoord_3=361;refseq.name2_1=LANCL1;refseq.name2_2=LANCL1;refseq.name2_3=LANCL1;refseq.name_1=NM_001136574;refseq.name_2=NM_001136575;refseq.name_3=NM_006055;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A66G;refseq.proteinCoordStr_2=p.A66G;refseq.proteinCoordStr_3=p.A66G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.start_1=211044930;refseq.start_2=211044930;refseq.start_3=211044930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chr2 211164882 . A G 188.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=99.00;MQ0=0;OQ=1995.73;QD=14.67;RankSumP=1.17162e-09;SB=-452.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1048A>G;refseq.codingCoordStr_2=c.1030A>G;refseq.codonCoord_1=350;refseq.codonCoord_2=344;refseq.end_1=211164882;refseq.end_2=211164882;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=1162;refseq.name2_1=CPS1;refseq.name2_2=CPS1;refseq.name_1=NM_001122633;refseq.name_2=NM_001875;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T350A;refseq.proteinCoordStr_2=p.T344A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=211164882;refseq.start_2=211164882;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 0/1 chr2 211164884 . C T 227.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=99.00;MQ0=0;OQ=2169.87;QD=15.72;RankSumP=0.498041;SB=-537.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1050C>T;refseq.codingCoordStr_2=c.1032C>T;refseq.codonCoord_1=350;refseq.codonCoord_2=344;refseq.end_1=211164884;refseq.end_2=211164884;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1129;refseq.mrnaCoord_2=1164;refseq.name2_1=CPS1;refseq.name2_2=CPS1;refseq.name_1=NM_001122633;refseq.name_2=NM_001875;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T350T;refseq.proteinCoordStr_2=p.T344T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=211164884;refseq.start_2=211164884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr2 211179722 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2022T>C;refseq.codingCoordStr_2=c.651T>C;refseq.codingCoordStr_3=c.2004T>C;refseq.codonCoord_1=674;refseq.codonCoord_2=217;refseq.codonCoord_3=668;refseq.end_1=211179722;refseq.end_2=211179722;refseq.end_3=211179722;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2101;refseq.mrnaCoord_2=1149;refseq.mrnaCoord_3=2136;refseq.name2_1=CPS1;refseq.name2_2=CPS1;refseq.name2_3=CPS1;refseq.name_1=NM_001122633;refseq.name_2=NM_001122634;refseq.name_3=NM_001875;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P674P;refseq.proteinCoordStr_2=p.P217P;refseq.proteinCoordStr_3=p.P668P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=211179722;refseq.start_2=211179722;refseq.start_3=211179722;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr2 211189502 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=2;HaplotypeScore=8.04;MQ=98.93;MQ0=0;OQ=10734.74;QD=23.54;RankSumP=0.473276;SB=-4322.62;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.2697C>G;refseq.codingCoordStr_2=c.1326C>G;refseq.codingCoordStr_3=c.2679C>G;refseq.codonCoord_1=899;refseq.codonCoord_2=442;refseq.codonCoord_3=893;refseq.end_1=211189502;refseq.end_2=211189502;refseq.end_3=211189502;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2776;refseq.mrnaCoord_2=1824;refseq.mrnaCoord_3=2811;refseq.name2_1=CPS1;refseq.name2_2=CPS1;refseq.name2_3=CPS1;refseq.name_1=NM_001122633;refseq.name_2=NM_001122634;refseq.name_3=NM_001875;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G899G;refseq.proteinCoordStr_2=p.G442G;refseq.proteinCoordStr_3=p.G893G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=211189502;refseq.start_2=211189502;refseq.start_3=211189502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/0 chr2 211248752 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=444;Dels=0.00;HRun=1;HaplotypeScore=33.17;MQ=98.59;MQ0=0;OQ=5821.28;QD=13.11;RankSumP=0.270549;SB=-1671.21;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4235C>A;refseq.codingCoordStr_2=c.2864C>A;refseq.codingCoordStr_3=c.4217C>A;refseq.codonCoord_1=1412;refseq.codonCoord_2=955;refseq.codonCoord_3=1406;refseq.end_1=211248752;refseq.end_2=211248752;refseq.end_3=211248752;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4314;refseq.mrnaCoord_2=3362;refseq.mrnaCoord_3=4349;refseq.name2_1=CPS1;refseq.name2_2=CPS1;refseq.name2_3=CPS1;refseq.name_1=NM_001122633;refseq.name_2=NM_001122634;refseq.name_3=NM_001875;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1412N;refseq.proteinCoordStr_2=p.T955N;refseq.proteinCoordStr_3=p.T1406N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=211248752;refseq.start_2=211248752;refseq.start_3=211248752;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr2 214435466 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=500;Dels=0.00;HRun=4;HaplotypeScore=11.57;MQ=98.84;MQ0=0;OQ=7787.92;QD=15.58;RankSumP=0.189377;SB=-1806.79;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1083A>C;refseq.codonCoord=361;refseq.end=214435466;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1175;refseq.name=NM_024532;refseq.name2=SPAG16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q361H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=13;refseq.start=214435466;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr2 214502988 . A C 166.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=19.86;MQ=98.73;MQ0=0;OQ=5980.59;QD=16.39;RankSumP=0.000499374;SB=-2122.04;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1274A>C;refseq.codonCoord=425;refseq.end=214502988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_024532;refseq.name2=SPAG16;refseq.positionType=CDS;refseq.proteinCoordStr=p.K425T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=60;refseq.start=214502988;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr2 215303409 . G A 349.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.83;MQ0=0;OQ=4554.35;QD=18.44;RankSumP=0.329170;SB=-1652.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1972C>T;refseq.codonCoord=658;refseq.end=215303409;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2107;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R658C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-30;refseq.start=215303409;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr2 215340500 . C T 320.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.26;MQ0=0;OQ=6590.59;QD=18.06;RankSumP=0.0555135;SB=-2743.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1519G>A;refseq.codonCoord=507;refseq.end=215340500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V507M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-50;refseq.start=215340500;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr2 215340501 . A G 281.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=7.31;MQ=98.26;MQ0=0;OQ=14333.24;QD=39.49;RankSumP=1.00000;SB=-6846.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1518T>C;refseq.codonCoord=506;refseq.end=215340501;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1653;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H506H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-51;refseq.start=215340501;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr2 215353578 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1265T>G;refseq.codonCoord=422;refseq.end=215353578;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1400;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V422G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-50;refseq.start=215353578;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 215353709 . C G 297.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.92;MQ0=0;OQ=7314.55;QD=20.26;RankSumP=0.221238;SB=-2789.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1134G>C;refseq.codonCoord=378;refseq.end=215353709;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R378S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-181;refseq.start=215353709;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr2 215382469 . G A 181.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=99.00;MQ0=0;OQ=732.22;QD=16.27;RankSumP=0.742234;SB=-85.32;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.70C>T;refseq.codonCoord=24;refseq.end=215382469;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_000465;refseq.name2=BARD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P24S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-89;refseq.start=215382469;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr2 215528258 . G A 366.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=98.63;MQ0=0;OQ=6827.43;QD=19.68;RankSumP=0.484664;SB=-2123.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.5352C>T;refseq.codingCoordStr_2=c.6306C>T;refseq.codonCoord_1=1784;refseq.codonCoord_2=2102;refseq.end_1=215528258;refseq.end_2=215528258;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5511;refseq.mrnaCoord_2=6526;refseq.name2_1=ABCA12;refseq.name2_2=ABCA12;refseq.name_1=NM_015657;refseq.name_2=NM_173076;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1784Y;refseq.proteinCoordStr_2=p.Y2102Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=215528258;refseq.start_2=215528258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr2 215584411 . A T 363.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=3381.33;QD=37.57;RankSumP=1.00000;SB=-715.74;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1375T>A;refseq.codingCoordStr_2=c.2329T>A;refseq.codonCoord_1=459;refseq.codonCoord_2=777;refseq.end_1=215584411;refseq.end_2=215584411;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1534;refseq.mrnaCoord_2=2549;refseq.name2_1=ABCA12;refseq.name2_2=ABCA12;refseq.name_1=NM_015657;refseq.name_2=NM_173076;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S459T;refseq.proteinCoordStr_2=p.S777T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=215584411;refseq.start_2=215584411;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr2 215905438 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.777T>C;refseq.codonCoord=259;refseq.end=215905438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_004044;refseq.name2=ATIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I259I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-38;refseq.start=215905438;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr2 215943334 . C T 276.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=98.86;MQ0=0;OQ=14099.74;QD=41.84;RankSumP=1.00000;SB=-6845.30;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.6415G>A;refseq.codingCoordStr_2=c.5878G>A;refseq.codingCoordStr_3=c.6613G>A;refseq.codingCoordStr_4=c.6238G>A;refseq.codingCoordStr_5=c.6340G>A;refseq.codingCoordStr_6=c.6781G>A;refseq.codonCoord_1=2139;refseq.codonCoord_2=1960;refseq.codonCoord_3=2205;refseq.codonCoord_4=2080;refseq.codonCoord_5=2114;refseq.codonCoord_6=2261;refseq.end_1=215943334;refseq.end_2=215943334;refseq.end_3=215943334;refseq.end_4=215943334;refseq.end_5=215943334;refseq.end_6=215943334;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=6681;refseq.mrnaCoord_2=6144;refseq.mrnaCoord_3=6879;refseq.mrnaCoord_4=6504;refseq.mrnaCoord_5=6606;refseq.mrnaCoord_6=7047;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V2139I;refseq.proteinCoordStr_2=p.V1960I;refseq.proteinCoordStr_3=p.V2205I;refseq.proteinCoordStr_4=p.V2080I;refseq.proteinCoordStr_5=p.V2114I;refseq.proteinCoordStr_6=p.V2261I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.referenceCodon_6=GTC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.spliceDist_4=67;refseq.spliceDist_5=67;refseq.spliceDist_6=67;refseq.start_1=215943334;refseq.start_2=215943334;refseq.start_3=215943334;refseq.start_4=215943334;refseq.start_5=215943334;refseq.start_6=215943334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;refseq.variantCodon_6=ATC;set=Intersection GT 1/1 chr2 215949533 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.5547T>C;refseq.codingCoordStr_2=c.5277T>C;refseq.codingCoordStr_3=c.5820T>C;refseq.codingCoordStr_4=c.5277T>C;refseq.codingCoordStr_5=c.5547T>C;refseq.codingCoordStr_6=c.5820T>C;refseq.codonCoord_1=1849;refseq.codonCoord_2=1759;refseq.codonCoord_3=1940;refseq.codonCoord_4=1759;refseq.codonCoord_5=1849;refseq.codonCoord_6=1940;refseq.end_1=215949533;refseq.end_2=215949533;refseq.end_3=215949533;refseq.end_4=215949533;refseq.end_5=215949533;refseq.end_6=215949533;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=5813;refseq.mrnaCoord_2=5543;refseq.mrnaCoord_3=6086;refseq.mrnaCoord_4=5543;refseq.mrnaCoord_5=5813;refseq.mrnaCoord_6=6086;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V1849V;refseq.proteinCoordStr_2=p.V1759V;refseq.proteinCoordStr_3=p.V1940V;refseq.proteinCoordStr_4=p.V1759V;refseq.proteinCoordStr_5=p.V1849V;refseq.proteinCoordStr_6=p.V1940V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.referenceCodon_6=GTT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.spliceDist_4=-68;refseq.spliceDist_5=-68;refseq.spliceDist_6=-68;refseq.start_1=215949533;refseq.start_2=215949533;refseq.start_3=215949533;refseq.start_4=215949533;refseq.start_5=215949533;refseq.start_6=215949533;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;set=FilteredInAll GT 0/1 chr2 215951162 . T A 278.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.28;MQ0=0;OQ=4477.82;QD=39.98;RankSumP=1.00000;SB=-1203.82;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.5418A>T;refseq.codingCoordStr_2=c.5148A>T;refseq.codingCoordStr_3=c.5691A>T;refseq.codingCoordStr_4=c.5148A>T;refseq.codingCoordStr_5=c.5418A>T;refseq.codingCoordStr_6=c.5691A>T;refseq.codonCoord_1=1806;refseq.codonCoord_2=1716;refseq.codonCoord_3=1897;refseq.codonCoord_4=1716;refseq.codonCoord_5=1806;refseq.codonCoord_6=1897;refseq.end_1=215951162;refseq.end_2=215951162;refseq.end_3=215951162;refseq.end_4=215951162;refseq.end_5=215951162;refseq.end_6=215951162;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=5684;refseq.mrnaCoord_2=5414;refseq.mrnaCoord_3=5957;refseq.mrnaCoord_4=5414;refseq.mrnaCoord_5=5684;refseq.mrnaCoord_6=5957;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G1806G;refseq.proteinCoordStr_2=p.G1716G;refseq.proteinCoordStr_3=p.G1897G;refseq.proteinCoordStr_4=p.G1716G;refseq.proteinCoordStr_5=p.G1806G;refseq.proteinCoordStr_6=p.G1897G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.referenceCodon_6=GGA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.spliceDist_5=-20;refseq.spliceDist_6=-20;refseq.start_1=215951162;refseq.start_2=215951162;refseq.start_3=215951162;refseq.start_4=215951162;refseq.start_5=215951162;refseq.start_6=215951162;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;set=Intersection GT 1/1 chr2 215957832 . C T 291.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=9609.58;QD=42.90;RankSumP=1.00000;SB=-3771.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.4452G>A;refseq.codingCoordStr_2=c.4452G>A;refseq.codingCoordStr_3=c.4725G>A;refseq.codingCoordStr_4=c.4452G>A;refseq.codingCoordStr_5=c.4452G>A;refseq.codingCoordStr_6=c.4725G>A;refseq.codonCoord_1=1484;refseq.codonCoord_2=1484;refseq.codonCoord_3=1575;refseq.codonCoord_4=1484;refseq.codonCoord_5=1484;refseq.codonCoord_6=1575;refseq.end_1=215957832;refseq.end_2=215957832;refseq.end_3=215957832;refseq.end_4=215957832;refseq.end_5=215957832;refseq.end_6=215957832;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4718;refseq.mrnaCoord_2=4718;refseq.mrnaCoord_3=4991;refseq.mrnaCoord_4=4718;refseq.mrnaCoord_5=4718;refseq.mrnaCoord_6=4991;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.E1484E;refseq.proteinCoordStr_2=p.E1484E;refseq.proteinCoordStr_3=p.E1575E;refseq.proteinCoordStr_4=p.E1484E;refseq.proteinCoordStr_5=p.E1484E;refseq.proteinCoordStr_6=p.E1575E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceDist_4=-5;refseq.spliceDist_5=-5;refseq.spliceDist_6=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.spliceInfo_4=splice-donor_-5;refseq.spliceInfo_5=splice-donor_-5;refseq.spliceInfo_6=splice-donor_-5;refseq.start_1=215957832;refseq.start_2=215957832;refseq.start_3=215957832;refseq.start_4=215957832;refseq.start_5=215957832;refseq.start_6=215957832;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantAA_6=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;refseq.variantCodon_6=GAA;set=Intersection GT 1/1 chr2 215981145 . T G 331.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=98.29;MQ0=0;OQ=4260.71;QD=40.58;RankSumP=1.00000;SB=-1627.24;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.2449A>C;refseq.codingCoordStr_2=c.2449A>C;refseq.codingCoordStr_3=c.2449A>C;refseq.codingCoordStr_4=c.2449A>C;refseq.codingCoordStr_5=c.2449A>C;refseq.codingCoordStr_6=c.2449A>C;refseq.codonCoord_1=817;refseq.codonCoord_2=817;refseq.codonCoord_3=817;refseq.codonCoord_4=817;refseq.codonCoord_5=817;refseq.codonCoord_6=817;refseq.end_1=215981145;refseq.end_2=215981145;refseq.end_3=215981145;refseq.end_4=215981145;refseq.end_5=215981145;refseq.end_6=215981145;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2715;refseq.mrnaCoord_2=2715;refseq.mrnaCoord_3=2715;refseq.mrnaCoord_4=2715;refseq.mrnaCoord_5=2715;refseq.mrnaCoord_6=2715;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T817P;refseq.proteinCoordStr_2=p.T817P;refseq.proteinCoordStr_3=p.T817P;refseq.proteinCoordStr_4=p.T817P;refseq.proteinCoordStr_5=p.T817P;refseq.proteinCoordStr_6=p.T817P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.spliceDist_5=21;refseq.spliceDist_6=21;refseq.start_1=215981145;refseq.start_2=215981145;refseq.start_3=215981145;refseq.start_4=215981145;refseq.start_5=215981145;refseq.start_6=215981145;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;refseq.variantCodon_6=CCG;set=Intersection GT 1/1 chr2 215981152 . A T 400.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.70;MQ0=0;OQ=3627.89;QD=37.40;RankSumP=1.00000;SB=-1066.61;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_1=c.2442T>A;refseq.codingCoordStr_2=c.2442T>A;refseq.codingCoordStr_3=c.2442T>A;refseq.codingCoordStr_4=c.2442T>A;refseq.codingCoordStr_5=c.2442T>A;refseq.codingCoordStr_6=c.2442T>A;refseq.codonCoord_1=814;refseq.codonCoord_2=814;refseq.codonCoord_3=814;refseq.codonCoord_4=814;refseq.codonCoord_5=814;refseq.codonCoord_6=814;refseq.end_1=215981152;refseq.end_2=215981152;refseq.end_3=215981152;refseq.end_4=215981152;refseq.end_5=215981152;refseq.end_6=215981152;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2708;refseq.mrnaCoord_2=2708;refseq.mrnaCoord_3=2708;refseq.mrnaCoord_4=2708;refseq.mrnaCoord_5=2708;refseq.mrnaCoord_6=2708;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_212474;refseq.name_3=NM_212475;refseq.name_4=NM_212476;refseq.name_5=NM_212478;refseq.name_6=NM_212482;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.P814P;refseq.proteinCoordStr_2=p.P814P;refseq.proteinCoordStr_3=p.P814P;refseq.proteinCoordStr_4=p.P814P;refseq.proteinCoordStr_5=p.P814P;refseq.proteinCoordStr_6=p.P814P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.spliceDist_5=14;refseq.spliceDist_6=14;refseq.start_1=215981152;refseq.start_2=215981152;refseq.start_3=215981152;refseq.start_4=215981152;refseq.start_5=215981152;refseq.start_6=215981152;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;set=Intersection GT 1/1 chr2 216008727 . T A 122.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.99;MQ0=0;OQ=886.08;QD=31.65;RankSumP=1.00000;SB=-52.99;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_1=c.44A>T;refseq.codingCoordStr_2=c.44A>T;refseq.codingCoordStr_3=c.44A>T;refseq.codingCoordStr_4=c.44A>T;refseq.codingCoordStr_5=c.44A>T;refseq.codingCoordStr_6=c.44A>T;refseq.codingCoordStr_7=c.44A>T;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.codonCoord_4=15;refseq.codonCoord_5=15;refseq.codonCoord_6=15;refseq.codonCoord_7=15;refseq.end_1=216008727;refseq.end_2=216008727;refseq.end_3=216008727;refseq.end_4=216008727;refseq.end_5=216008727;refseq.end_6=216008727;refseq.end_7=216008727;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=310;refseq.mrnaCoord_2=310;refseq.mrnaCoord_3=310;refseq.mrnaCoord_4=310;refseq.mrnaCoord_5=310;refseq.mrnaCoord_6=310;refseq.mrnaCoord_7=310;refseq.name2_1=FN1;refseq.name2_2=FN1;refseq.name2_3=FN1;refseq.name2_4=FN1;refseq.name2_5=FN1;refseq.name2_6=FN1;refseq.name2_7=FN1;refseq.name_1=NM_002026;refseq.name_2=NM_054034;refseq.name_3=NM_212474;refseq.name_4=NM_212475;refseq.name_5=NM_212476;refseq.name_6=NM_212478;refseq.name_7=NM_212482;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.Q15L;refseq.proteinCoordStr_2=p.Q15L;refseq.proteinCoordStr_3=p.Q15L;refseq.proteinCoordStr_4=p.Q15L;refseq.proteinCoordStr_5=p.Q15L;refseq.proteinCoordStr_6=p.Q15L;refseq.proteinCoordStr_7=p.Q15L;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.referenceCodon_7=CAG;refseq.spliceDist_1=-105;refseq.spliceDist_2=-105;refseq.spliceDist_3=-105;refseq.spliceDist_4=-105;refseq.spliceDist_5=-105;refseq.spliceDist_6=-105;refseq.spliceDist_7=-105;refseq.start_1=216008727;refseq.start_2=216008727;refseq.start_3=216008727;refseq.start_4=216008727;refseq.start_5=216008727;refseq.start_6=216008727;refseq.start_7=216008727;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;refseq.variantCodon_7=CTG;set=Intersection GT 1/1 chr2 216616924 . C T 306.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=10.06;MQ=98.81;MQ0=0;OQ=5175.40;QD=16.12;RankSumP=0.0820138;SB=-1612.40;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.774G>A;refseq.codonCoord=258;refseq.end=216616924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_018441;refseq.name2=PECR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S258S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-53;refseq.start=216616924;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 216721146 . A G 399.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2539.24;QD=38.47;RankSumP=1.00000;SB=-1086.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1572A>G;refseq.codonCoord=524;refseq.end=216721146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1712;refseq.name=NM_021141;refseq.name2=XRCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T524T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=96;refseq.start=216721146;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 216856662 . C A 101.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.90;MQ0=0;OQ=1925.54;QD=12.34;RankSumP=0.446625;SB=-306.88;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.552G>T;refseq.codonCoord=184;refseq.end=216856662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2319;refseq.name=NM_020814;refseq.name2=MARCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S184S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=36;refseq.start=216856662;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr2 217072982 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.198C>G;refseq.codonCoord=66;refseq.end=217072982;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_000998;refseq.name2=RPL37A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-18;refseq.start=217072982;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 217249827 . T C 157.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=98.34;MQ0=0;OQ=15608.32;QD=38.63;RankSumP=1.00000;SB=-7363.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.711A>G;refseq.codonCoord=237;refseq.end=217249827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1485;refseq.name=NM_000599;refseq.name2=IGFBP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K237K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=24;refseq.start=217249827;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr2 218382942 . C T 353.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=98.78;MQ0=0;OQ=4095.31;QD=17.81;RankSumP=0.319865;SB=-1497.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4810G>A;refseq.codonCoord=1604;refseq.end=218382942;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5208;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1604I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=18;refseq.start=218382942;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr2 218391399 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=9.48;MQ=97.70;MQ0=0;OQ=1400.06;QD=15.56;RankSumP=0.320882;SB=-640.59;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3589T>C;refseq.codonCoord=1197;refseq.end=218391399;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3987;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1197R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=329;refseq.start=218391399;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr2 218391669 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=4.13509e-06;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3319A>C;refseq.codonCoord=1107;refseq.end=218391669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3717;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1107P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=59;refseq.start=218391669;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 218403347 . G A 251.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=98.01;MQ0=0;OQ=2777.26;QD=15.69;RankSumP=0.163422;SB=-935.79;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3010C>T;refseq.codonCoord=1004;refseq.end=218403347;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3408;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1004W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=12;refseq.start=218403347;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr2 218420551 . C T 250.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.31;MQ0=0;OQ=3217.75;QD=36.57;RankSumP=1.00000;SB=-669.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2559G>A;refseq.codonCoord=853;refseq.end=218420551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2957;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A853A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-74;refseq.start=218420551;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr2 218420851 . G A 335.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.89;MQ0=0;OQ=1788.08;QD=35.76;RankSumP=1.00000;SB=-673.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2259C>T;refseq.codonCoord=753;refseq.end=218420851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2657;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S753S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-374;refseq.start=218420851;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr2 218420971 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=19.46;MQ=98.69;MQ0=0;OQ=10192.80;QD=35.03;RankSumP=1.00000;SB=-4745.58;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2139T>C;refseq.codonCoord=713;refseq.end=218420971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2537;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N713N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-494;refseq.start=218420971;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr2 218421163 . C T 131.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.29;MQ0=0;OQ=371.27;QD=33.75;RankSumP=1.00000;SB=-197.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1947G>A;refseq.codonCoord=649;refseq.end=218421163;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2345;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S649S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-686;refseq.start=218421163;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr2 218421181 . C T 157.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.83;MQ0=0;OQ=452.15;QD=34.78;RankSumP=1.00000;SB=-134.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1929G>A;refseq.codonCoord=643;refseq.end=218421181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2327;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V643V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-704;refseq.start=218421181;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr2 218421527 . G A 192.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=14.34;MQ=98.78;MQ0=0;OQ=14145.88;QD=40.53;RankSumP=1.00000;SB=-5273.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1583C>T;refseq.codonCoord=528;refseq.end=218421527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1981;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T528I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=529;refseq.start=218421527;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr2 218453930 . G A 346.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=98.68;MQ0=0;OQ=6689.05;QD=20.03;RankSumP=0.0414746;SB=-1425.01;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.990C>T;refseq.codonCoord=330;refseq.end=218453930;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1388;refseq.name=NM_022648;refseq.name2=TNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S330S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=53;refseq.start=218453930;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr2 218708555 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=754;Dels=0.00;HRun=1;HaplotypeScore=27.90;MQ=77.11;MQ0=72;OQ=12279.75;QD=16.29;RankSumP=0.0881362;SB=-2520.20;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.786C>T;refseq.codingCoordStr_2=c.786C>T;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.end_1=218708555;refseq.end_2=218708555;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=996;refseq.mrnaCoord_2=1204;refseq.name2_1=CXCR2;refseq.name2_2=CXCR2;refseq.name_1=NM_001168298;refseq.name_2=NM_001557;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L262L;refseq.proteinCoordStr_2=p.L262L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=811;refseq.spliceDist_2=811;refseq.start_1=218708555;refseq.start_2=218708555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr2 218839860 . A C 14.40 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=140;Dels=0.00;HRun=2;HaplotypeScore=10.68;MQ=97.39;MQ0=0;QD=0.10;RankSumP=0.00000;SB=218.72;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.488T>G;refseq.codonCoord=163;refseq.end=218839860;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_001087;refseq.name2=AAMP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V163G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-47;refseq.start=218839860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 218848532 . G C 215.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.81;MQ0=0;OQ=5441.66;QD=19.43;RankSumP=0.343783;SB=-2185.26;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.846C>G;refseq.codonCoord_2=282;refseq.end_1=218912739;refseq.end_2=218848532;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=978;refseq.name2_1=PNKD;refseq.name2_2=TMBIM1;refseq.name_1=NM_015488;refseq.name_2=NM_022152;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P282P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=57;refseq.start_1=218844527;refseq.start_2=218848532;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr2 218853059 . T C 246.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.58;MQ0=0;OQ=4836.45;QD=38.69;RankSumP=1.00000;SB=-2321.90;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.237A>G;refseq.codonCoord_2=79;refseq.end_1=218912739;refseq.end_2=218853059;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=369;refseq.name2_1=PNKD;refseq.name2_2=TMBIM1;refseq.name_1=NM_015488;refseq.name_2=NM_022152;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A79A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=35;refseq.start_1=218844527;refseq.start_2=218853059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr2 218855047 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.30;MQ0=0;OQ=405.67;QD=10.96;RankSumP=0.328109;SB=-174.23;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.62C>T;refseq.codonCoord_2=21;refseq.end_1=218912739;refseq.end_2=218855047;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=194;refseq.name2_1=PNKD;refseq.name2_2=TMBIM1;refseq.name_1=NM_015488;refseq.name_2=NM_022152;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P21L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=102;refseq.start_1=218844527;refseq.start_2=218855047;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr2 218930090 . G A 293.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=5.97;MQ=97.79;MQ0=0;OQ=2203.22;QD=16.57;RankSumP=0.115133;SB=-834.38;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.54G>A;refseq.codonCoord=18;refseq.end=218930090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=83;refseq.name=NM_198559;refseq.name2=C2orf62;refseq.positionType=CDS;refseq.proteinCoordStr=p.S18S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=29;refseq.start=218930090;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 218940051 . C T 274.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=98.60;MQ0=0;OQ=9921.87;QD=39.69;RankSumP=1.00000;SB=-3763.27;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.816C>T;refseq.codonCoord=272;refseq.end=218940051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=845;refseq.name=NM_198559;refseq.name2=C2orf62;refseq.positionType=CDS;refseq.proteinCoordStr=p.P272P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-17;refseq.start=218940051;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr2 218957257 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=248;Dels=0.00;HRun=2;HaplotypeScore=8.54;MQ=98.84;MQ0=0;OQ=4681.79;QD=18.88;RankSumP=0.206260;SB=-1088.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.198C>T;refseq.codonCoord=66;refseq.end=218957257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=538;refseq.name=NM_000578;refseq.name2=SLC11A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F66F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=48;refseq.start=218957257;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr2 218962866 . A G 139.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.89;MQ0=0;OQ=4347.68;QD=35.35;RankSumP=1.00000;SB=-1456.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.825A>G;refseq.codonCoord=275;refseq.end=218962866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1165;refseq.name=NM_000578;refseq.name2=SLC11A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A275A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=30;refseq.start=218962866;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/1 chr2 218974667 . C A 166.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.84;MQ0=0;OQ=713.04;QD=19.27;RankSumP=0.0568962;SB=-109.13;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.204C>A;refseq.codingCoordStr_2=c.204C>A;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=218974667;refseq.end_2=218974667;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=540;refseq.mrnaCoord_2=204;refseq.name2_1=CTDSP1;refseq.name2_2=CTDSP1;refseq.name_1=NM_021198;refseq.name_2=NM_182642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G68G;refseq.proteinCoordStr_2=p.G68G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=218974667;refseq.start_2=218974667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr2 218976025 . C T 101.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.68;MQ0=0;OQ=1474.95;QD=12.09;RankSumP=0.303993;SB=-455.29;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.402C>T;refseq.codingCoordStr_2=c.399C>T;refseq.codonCoord_1=134;refseq.codonCoord_2=133;refseq.end_1=218976025;refseq.end_2=218976025;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=738;refseq.mrnaCoord_2=399;refseq.name2_1=CTDSP1;refseq.name2_2=CTDSP1;refseq.name_1=NM_021198;refseq.name_2=NM_182642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H134H;refseq.proteinCoordStr_2=p.H133H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=218976025;refseq.start_2=218976025;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr2 219027901 . A G 287.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=98.94;MQ0=0;OQ=17065.49;QD=37.84;RankSumP=1.00000;SB=-5890.63;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2936T>C;refseq.codonCoord=979;refseq.end=219027901;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3349;refseq.name=NM_020935;refseq.name2=USP37;refseq.positionType=CDS;refseq.proteinCoordStr=p.L979S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=84;refseq.start=219027901;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 219213709 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=169;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=98.91;MQ0=0;OQ=3052.65;QD=18.06;RankSumP=0.183674;SB=-1171.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4516C>T;refseq.codonCoord=1506;refseq.end=219213709;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4952;refseq.name=NM_001105537;refseq.name2=ZNF142;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1506W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=28;refseq.start=219213709;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr2 219215682 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3801C>A;refseq.codonCoord=1267;refseq.end=219215682;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4237;refseq.name=NM_001105537;refseq.name2=ZNF142;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1267*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-688;refseq.start=219215682;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr2 219216616 . A T 363.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2017.44;QD=37.36;RankSumP=1.00000;SB=-761.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2867T>A;refseq.codonCoord=956;refseq.end=219216616;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3303;refseq.name=NM_001105537;refseq.name2=ZNF142;refseq.positionType=CDS;refseq.proteinCoordStr=p.L956H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=1416;refseq.start=219216616;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 219234156 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.202A>C;refseq.codingCoordStr_2=c.202A>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=219234156;refseq.end_2=219234156;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=339;refseq.mrnaCoord_2=548;refseq.name2_1=BCS1L;refseq.name2_2=BCS1L;refseq.name_1=NM_001079866;refseq.name_2=NM_004328;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T68P;refseq.proteinCoordStr_2=p.T68P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-119;refseq.spliceDist_2=-119;refseq.start_1=219234156;refseq.start_2=219234156;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr2 219241570 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr2;refseq.codingCoordStr=c.116+2;refseq.end=219241570;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_022453;refseq.name2=RNF25;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=219241570;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr2 219261667 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=3903.48;QD=28.08;RankSumP=0.429885;SB=-1251.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1384C>G;refseq.codonCoord=462;refseq.end=219261667;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1650;refseq.name=NM_015690;refseq.name2=STK36;refseq.positionType=CDS;refseq.proteinCoordStr=p.L462V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=219261667;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 219263506 . G A 417.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.39;MQ0=0;OQ=3553.70;QD=42.31;RankSumP=1.00000;SB=-1571.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1748G>A;refseq.codonCoord=583;refseq.end=219263506;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2014;refseq.name=NM_015690;refseq.name2=STK36;refseq.positionType=CDS;refseq.proteinCoordStr=p.R583Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-17;refseq.start=219263506;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 219270919 . G A 269.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=7.58;MQ=98.56;MQ0=0;OQ=7368.08;QD=40.04;RankSumP=1.00000;SB=-2593.85;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3008G>A;refseq.codonCoord=1003;refseq.end=219270919;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3274;refseq.name=NM_015690;refseq.name2=STK36;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1003D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-50;refseq.start=219270919;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr2 219310743 . G C 397.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.62;MQ0=0;OQ=3194.88;QD=42.04;RankSumP=1.00000;SB=-1235.06;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.100G>C;refseq.codonCoord=34;refseq.end=219310743;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_014640;refseq.name2=TTLL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E34Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=198;refseq.start=219310743;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr2 219311063 . G A 242.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=12.03;MQ=99.08;MQ0=0;OQ=12518.07;QD=41.18;RankSumP=1.00000;SB=-5531.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.420G>A;refseq.codonCoord=140;refseq.end=219311063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_014640;refseq.name2=TTLL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P140P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=518;refseq.start=219311063;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr2 219318677 . A G 408.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=99.00;MQ0=0;OQ=6028.54;QD=42.45;RankSumP=1.00000;SB=-1656.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1806A>G;refseq.codonCoord=602;refseq.end=219318677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2176;refseq.name=NM_014640;refseq.name2=TTLL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E602E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=20;refseq.start=219318677;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 219400045 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=98.74;MQ0=0;OQ=1199.30;QD=14.81;RankSumP=0.0104546;SB=-429.39;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1018C>T;refseq.codonCoord=340;refseq.end=219400045;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_017431;refseq.name2=PRKAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R340W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=16;refseq.start=219400045;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr2 219565117 . C G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=1;RankSumP=0.262699;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.254G>C;refseq.codingCoordStr_2=c.254G>C;refseq.codingCoordStr_3=c.254G>C;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.codonCoord_3=85;refseq.end_1=219565117;refseq.end_2=219565117;refseq.end_3=219565117;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=283;refseq.mrnaCoord_2=483;refseq.mrnaCoord_3=289;refseq.name2_1=CRYBA2;refseq.name2_2=CRYBA2;refseq.name2_3=CRYBA2;refseq.name_1=NM_005209;refseq.name_2=NM_057093;refseq.name_3=NM_057094;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S85T;refseq.proteinCoordStr_2=p.S85T;refseq.proteinCoordStr_3=p.S85T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=219565117;refseq.start_2=219565117;refseq.start_3=219565117;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr2 219579007 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4902T>C;refseq.codonCoord=1634;refseq.end=219579007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4986;refseq.name=NM_194302;refseq.name2=CCDC108;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1634F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-21;refseq.start=219579007;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr2 219582047 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4640A>G;refseq.codonCoord=1547;refseq.end=219582047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4724;refseq.name=NM_194302;refseq.name2=CCDC108;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1547G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-35;refseq.start=219582047;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr2 219601340 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1678A>C;refseq.codonCoord=560;refseq.end=219601340;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1762;refseq.name=NM_194302;refseq.name2=CCDC108;refseq.positionType=CDS;refseq.proteinCoordStr=p.T560P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=28;refseq.start=219601340;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 219601341 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1677G>C;refseq.codonCoord=559;refseq.end=219601341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1761;refseq.name=NM_194302;refseq.name2=CCDC108;refseq.positionType=CDS;refseq.proteinCoordStr=p.G559G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=27;refseq.start=219601341;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr2 219611502 . T G 267.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=2102.23;QD=40.43;RankSumP=1.00000;SB=-655.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1A>C;refseq.codingCoordStr_2=c.196A>C;refseq.codonCoord_1=1;refseq.codonCoord_2=66;refseq.end_1=219611502;refseq.end_2=219611502;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=125;refseq.mrnaCoord_2=280;refseq.name2_1=CCDC108;refseq.name2_2=CCDC108;refseq.name_1=NM_152389;refseq.name_2=NM_194302;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1L;refseq.proteinCoordStr_2=p.M66L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=219611502;refseq.start_2=219611502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr2 219611967 . C T 429.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.67;MQ0=0;OQ=7077.73;QD=42.64;RankSumP=1.00000;SB=-2921.75;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.48G>A;refseq.codonCoord_2=16;refseq.end_1=219613474;refseq.end_2=219611967;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=132;refseq.name2_1=CCDC108;refseq.name2_2=CCDC108;refseq.name_1=NM_152389;refseq.name_2=NM_194302;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V16V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=50;refseq.start_1=219611555;refseq.start_2=219611967;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr2 219628281 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.88;MQ0=0;OQ=1827.44;QD=35.83;RankSumP=1.00000;SB=-559.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1128T>C;refseq.codonCoord=376;refseq.end=219628281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1177;refseq.name=NM_002181;refseq.name2=IHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T376T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=551;refseq.start=219628281;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr2 219628656 . A G 102.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=3.78;MQ=98.61;MQ0=0;OQ=5942.57;QD=38.34;RankSumP=1.00000;SB=-2186.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.753T>C;refseq.codonCoord=251;refseq.end=219628656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_002181;refseq.name2=IHH;refseq.positionType=CDS;refseq.proteinCoordStr=p.P251P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=176;refseq.start=219628656;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 219745637 . A G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1297.19;QD=36.03;RankSumP=1.00000;SB=-392.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1148T>C;refseq.codonCoord=383;refseq.end=219745637;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1300;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.L383P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=458;refseq.start=219745637;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 219745743 . T G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1042A>C;refseq.codonCoord=348;refseq.end=219745743;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.T348P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=352;refseq.start=219745743;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 219745910 . A G 258.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.70;MQ0=0;OQ=2700.90;QD=37.00;RankSumP=1.00000;SB=-987.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.875T>C;refseq.codonCoord=292;refseq.end=219745910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.L292P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=185;refseq.start=219745910;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 219746000 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=73;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=97.91;MQ0=0;OQ=2492.83;QD=34.15;RankSumP=1.00000;SB=-1000.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.785T>C;refseq.codonCoord=262;refseq.end=219746000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.I262T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=95;refseq.start=219746000;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr2 219746320 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.686T>G;refseq.codonCoord=229;refseq.end=219746320;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.V229G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=219746320;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr2 219748574 . A G 409.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=98.34;MQ0=0;OQ=5992.50;QD=35.67;RankSumP=1.00000;SB=-2455.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.243T>C;refseq.codonCoord=81;refseq.end=219748574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_015680;refseq.name2=C2orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y81Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-18;refseq.start=219748574;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 219755219 . C A 249.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=98.46;MQ0=0;OQ=2127.59;QD=36.68;RankSumP=1.00000;SB=-713.34;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1256C>A;refseq.codonCoord=419;refseq.end=219755219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_024293;refseq.name2=FAM134A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P419Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=241;refseq.start=219755219;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr2 219789719 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=58;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=99.00;MQ0=0;OQ=684.81;QD=11.81;RankSumP=0.582313;SB=-10.00;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.767G>A;refseq.codonCoord=256;refseq.end=219789719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1044;refseq.name=NM_005689;refseq.name2=ABCB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R256Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=80;refseq.start=219789719;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr2 219791523 . C T 358.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2602.00;QD=37.17;RankSumP=1.00000;SB=-522.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.117G>A;refseq.codonCoord=39;refseq.end=219791523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_005689;refseq.name2=ABCB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L39L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=394;refseq.start=219791523;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 219794089 . A G 80.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.84;MQ0=0;OQ=1312.13;QD=32.00;RankSumP=1.00000;SB=-557.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2325T>C;refseq.codingCoordStr_2=c.2325T>C;refseq.codonCoord_1=775;refseq.codonCoord_2=775;refseq.end_1=219794089;refseq.end_2=219794089;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2511;refseq.mrnaCoord_2=2459;refseq.name2_1=ATG9A;refseq.name2_2=ATG9A;refseq.name_1=NM_001077198;refseq.name_2=NM_024085;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T775T;refseq.proteinCoordStr_2=p.T775T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=219794089;refseq.start_2=219794089;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr2 219795131 . A C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.500026;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2030T>G;refseq.codingCoordStr_2=c.2030T>G;refseq.codonCoord_1=677;refseq.codonCoord_2=677;refseq.end_1=219795131;refseq.end_2=219795131;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2216;refseq.mrnaCoord_2=2164;refseq.name2_1=ATG9A;refseq.name2_2=ATG9A;refseq.name_1=NM_001077198;refseq.name_2=NM_024085;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V677G;refseq.proteinCoordStr_2=p.V677G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=219795131;refseq.start_2=219795131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 0/1 chr2 219821486 . T G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=22.68;MQ=98.59;MQ0=0;OQ=15573.03;QD=37.98;RankSumP=1.00000;SB=-5313.78;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.879T>G;refseq.codonCoord_2=293;refseq.end_1=219821486;refseq.end_2=219821486;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1036;refseq.name2_1=STK16;refseq.name2_2=STK16;refseq.name_1=NR_026909;refseq.name_2=NM_001008910;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L293L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=219821486;refseq.start_2=219821486;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr2 219823385 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1280C>G;refseq.codonCoord=427;refseq.end=219823385;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1338;refseq.name=NM_006000;refseq.name2=TUBA4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A427G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-141;refseq.start=219823385;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr2 219867082 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.end_1=219867930;refseq.end_2=219867082;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=85;refseq.name2_1=PTPRN;refseq.name2_2=MIR153-1;refseq.name_1=NM_002846;refseq.name_2=NR_029688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=219864500;refseq.start_2=219867082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr2 219872968 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1419C>A;refseq.codonCoord=473;refseq.end=219872968;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_002846;refseq.name2=PTPRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y473*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-18;refseq.start=219872968;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr2 219958391 . A G 260.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=99.00;MQ0=0;OQ=2215.57;QD=33.07;RankSumP=1.00000;SB=-450.52;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.773T>C;refseq.codonCoord=258;refseq.end=219958391;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_012100;refseq.name2=DNPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V258A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=219958391;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr2 219991503 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.32;MQ0=0;OQ=1187.33;QD=26.98;RankSumP=1.00000;SB=-165.75;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.75A>G;refseq.codonCoord=25;refseq.end=219991503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_001927;refseq.name2=DES;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=161;refseq.start=219991503;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 219991521 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=97.88;MQ0=0;OQ=1110.48;QD=30.01;RankSumP=1.00000;SB=-87.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.93T>C;refseq.codonCoord=31;refseq.end=219991521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=179;refseq.name=NM_001927;refseq.name2=DES;refseq.positionType=CDS;refseq.proteinCoordStr=p.S31S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=179;refseq.start=219991521;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr2 219993120 . C T 254.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=6.36;MQ=98.74;MQ0=0;OQ=5012.48;QD=18.56;RankSumP=0.276499;SB=-1362.88;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.638C>T;refseq.codonCoord=213;refseq.end=219993120;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_001927;refseq.name2=DES;refseq.positionType=CDS;refseq.proteinCoordStr=p.A213V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=219993120;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr2 220017929 . G A 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=121.83;QD=12.18;RankSumP=0.465368;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.617G>A;refseq.codonCoord=206;refseq.end=220017929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_005876;refseq.name2=SPEG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R206H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=139;refseq.start=220017929;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 220034977 . A C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500001;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.23A>C;refseq.codingCoordStr_2=c.2570A>C;refseq.codonCoord_1=8;refseq.codonCoord_2=857;refseq.end_1=220034977;refseq.end_2=220034977;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=315;refseq.mrnaCoord_2=2570;refseq.name2_1=SPEG;refseq.name2_2=SPEG;refseq.name_1=NM_001173476;refseq.name_2=NM_005876;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N8T;refseq.proteinCoordStr_2=p.N857T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=220034977;refseq.start_2=220034977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr2 220042194 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=6.50;MQ=97.82;MQ0=0;OQ=1617.91;QD=24.15;RankSumP=1.00000;SB=-692.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3564T>C;refseq.codonCoord=1188;refseq.end=220042194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3564;refseq.name=NM_005876;refseq.name2=SPEG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1188P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=73;refseq.start=220042194;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 220061776 . C A 174.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=673.19;QD=35.43;RankSumP=1.00000;SB=-288.71;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.8059C>A;refseq.codonCoord=2687;refseq.end=220061776;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8059;refseq.name=NM_005876;refseq.name2=SPEG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2687T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=33;refseq.start=220061776;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr2 220078227 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.654T>G;refseq.codingCoordStr_2=c.654T>G;refseq.codonCoord_1=218;refseq.codonCoord_2=218;refseq.end_1=220078227;refseq.end_2=220078227;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=722;refseq.mrnaCoord_2=1017;refseq.name2_1=GMPPA;refseq.name2_2=GMPPA;refseq.name_1=NM_013335;refseq.name_2=NM_205847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G218G;refseq.proteinCoordStr_2=p.G218G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=220078227;refseq.start_2=220078227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr2 220087804 . C G 320.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.45;MQ0=0;OQ=2093.53;QD=38.06;RankSumP=1.00000;SB=-1035.17;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.495C>G;refseq.codingCoordStr_2=c.495C>G;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=220087804;refseq.end_2=220087804;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=669;refseq.name2_1=ACCN4;refseq.name2_2=ACCN4;refseq.name_1=NM_018674;refseq.name_2=NM_182847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A165A;refseq.proteinCoordStr_2=p.A165A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-469;refseq.spliceDist_2=-469;refseq.start_1=220087804;refseq.start_2=220087804;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr2 220108195 . A G 357.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.05;MQ0=0;OQ=2346.48;QD=36.10;RankSumP=1.00000;SB=-878.02;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1515A>G;refseq.codingCoordStr_2=c.1458A>G;refseq.codonCoord_1=505;refseq.codonCoord_2=486;refseq.end_1=220108195;refseq.end_2=220108195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1689;refseq.mrnaCoord_2=1632;refseq.name2_1=ACCN4;refseq.name2_2=ACCN4;refseq.name_1=NM_018674;refseq.name_2=NM_182847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T505T;refseq.proteinCoordStr_2=p.T486T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=220108195;refseq.start_2=220108195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr2 220110909 . C A 122.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=975.27;QD=33.63;RankSumP=1.00000;SB=-129.84;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1898C>A;refseq.codingCoordStr_2=c.1841C>A;refseq.codonCoord_1=633;refseq.codonCoord_2=614;refseq.end_1=220110909;refseq.end_2=220110909;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2072;refseq.mrnaCoord_2=2015;refseq.name2_1=ACCN4;refseq.name2_2=ACCN4;refseq.name_1=NM_018674;refseq.name_2=NM_182847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P633Q;refseq.proteinCoordStr_2=p.P614Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=220110909;refseq.start_2=220110909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr2 220112625 . A G 79.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=96.21;MQ0=0;OQ=1670.68;QD=29.83;RankSumP=1.00000;SB=-650.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2052T>C;refseq.codonCoord=684;refseq.end=220112625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2279;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y684Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-713;refseq.start=220112625;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr2 220112892 . C T 319.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.39;MQ0=0;OQ=1119.25;QD=36.10;RankSumP=1.00000;SB=-440.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1785G>A;refseq.codonCoord=595;refseq.end=220112892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2012;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.L595L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=717;refseq.start=220112892;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr2 220112970 . G A 276.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.53;MQ0=0;OQ=1546.50;QD=38.66;RankSumP=1.00000;SB=-708.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1707C>T;refseq.codonCoord=569;refseq.end=220112970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1934;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H569H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=639;refseq.start=220112970;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 220113474 . G A 186.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=96.82;MQ0=0;OQ=3379.35;QD=38.40;RankSumP=1.00000;SB=-1234.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1203C>T;refseq.codonCoord=401;refseq.end=220113474;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1430;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H401H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=135;refseq.start=220113474;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr2 220113565 . T C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=1.42;MQ=98.33;MQ0=0;OQ=1661.45;QD=33.91;RankSumP=1.00000;SB=-847.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1112A>G;refseq.codonCoord=371;refseq.end=220113565;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1339;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q371R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=44;refseq.start=220113565;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 220114630 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.840T>G;refseq.codonCoord=280;refseq.end=220114630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1067;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.G280G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-49;refseq.start=220114630;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 220114966 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=3.02;MQ=95.14;MQ0=0;OQ=1610.05;QD=32.20;RankSumP=1.00000;SB=-379.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.504A>G;refseq.codonCoord=168;refseq.end=220114966;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_024536;refseq.name2=CHPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.L168L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=190;refseq.start=220114966;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr2 220120500 . T C 109.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=4.05;MQ=99.00;MQ0=0;OQ=3170.96;QD=33.38;RankSumP=1.00000;SB=-1393.53;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.195T>C;refseq.codonCoord=65;refseq.end=220120500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_001005209;refseq.name2=TMEM198;refseq.positionType=CDS;refseq.proteinCoordStr=p.F65F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=29;refseq.start=220120500;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr2 220122260 . C T 203.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.30;MQ0=0;OQ=2274.28;QD=33.45;RankSumP=1.00000;SB=-876.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.885C>T;refseq.codonCoord=295;refseq.end=220122260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1279;refseq.name=NM_001005209;refseq.name2=TMEM198;refseq.positionType=CDS;refseq.proteinCoordStr=p.D295D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-61;refseq.start=220122260;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr2 220122263 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=98.30;MQ0=0;OQ=2258.15;QD=33.21;RankSumP=1.00000;SB=-914.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.888T>C;refseq.codonCoord=296;refseq.end=220122263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_001005209;refseq.name2=TMEM198;refseq.positionType=CDS;refseq.proteinCoordStr=p.P296P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-58;refseq.start=220122263;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 220147922 . C T 204.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.82;MQ0=0;OQ=2021.12;QD=19.07;RankSumP=0.486151;SB=-809.71;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.531C>T;refseq.codonCoord=177;refseq.end=220147922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_002191;refseq.name2=INHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A177A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=263;refseq.start=220147922;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr2 220202362 . A C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=7;HaplotypeScore=0.32;MQ=98.63;MQ0=0;OQ=1149.04;QD=30.24;RankSumP=1.00000;SB=-447.80;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.470A>C;refseq.codingCoordStr_2=c.470A>C;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=220202362;refseq.end_2=220202362;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=739;refseq.mrnaCoord_2=679;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H157P;refseq.proteinCoordStr_2=p.H157P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=220202362;refseq.start_2=220202362;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/1 chr2 220208667 . A G 160.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1108.43;QD=38.22;RankSumP=1.00000;SB=-509.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2001A>G;refseq.codingCoordStr_2=c.2082A>G;refseq.codonCoord_1=667;refseq.codonCoord_2=694;refseq.end_1=220208667;refseq.end_2=220208667;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2270;refseq.mrnaCoord_2=2291;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E667E;refseq.proteinCoordStr_2=p.E694E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=220208667;refseq.start_2=220208667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr2 220208670 . A G 218.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=1127.26;QD=35.23;RankSumP=1.00000;SB=-514.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2004A>G;refseq.codingCoordStr_2=c.2085A>G;refseq.codonCoord_1=668;refseq.codonCoord_2=695;refseq.end_1=220208670;refseq.end_2=220208670;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2273;refseq.mrnaCoord_2=2294;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A668A;refseq.proteinCoordStr_2=p.A695A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=220208670;refseq.start_2=220208670;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr2 220210611 . A C 371.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.46;MQ0=0;OQ=2078.18;QD=37.11;RankSumP=1.00000;SB=-696.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2600A>C;refseq.codingCoordStr_2=c.2681A>C;refseq.codonCoord_1=867;refseq.codonCoord_2=894;refseq.end_1=220210611;refseq.end_2=220210611;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2869;refseq.mrnaCoord_2=2890;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D867A;refseq.proteinCoordStr_2=p.D894A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=220210611;refseq.start_2=220210611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr2 220210755 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2744A>C;refseq.codingCoordStr_2=c.2825A>C;refseq.codonCoord_1=915;refseq.codonCoord_2=942;refseq.end_1=220210755;refseq.end_2=220210755;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3013;refseq.mrnaCoord_2=3034;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N915T;refseq.proteinCoordStr_2=p.N942T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=220210755;refseq.start_2=220210755;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr2 220213509 . T C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=26.17;MQ=98.75;MQ0=0;OQ=19847.82;QD=40.02;RankSumP=1.00000;SB=-9465.49;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3391T>C;refseq.codingCoordStr_2=c.3472T>C;refseq.codonCoord_1=1131;refseq.codonCoord_2=1158;refseq.end_1=220213509;refseq.end_2=220213509;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3660;refseq.mrnaCoord_2=3681;refseq.name2_1=SLC4A3;refseq.name2_2=SLC4A3;refseq.name_1=NM_005070;refseq.name_2=NM_201574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1131L;refseq.proteinCoordStr_2=p.L1158L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=220213509;refseq.start_2=220213509;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr2 222870133 . A G 35.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=91.26;MQ0=0;OQ=479.29;QD=25.23;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.codingCoordStr_1=c.129T>C;refseq.codingCoordStr_2=c.129T>C;refseq.codingCoordStr_3=c.129T>C;refseq.codingCoordStr_4=c.129T>C;refseq.codingCoordStr_5=c.129T>C;refseq.codingCoordStr_6=c.129T>C;refseq.codingCoordStr_7=c.129T>C;refseq.codingCoordStr_8=c.129T>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.codonCoord_3=43;refseq.codonCoord_4=43;refseq.codonCoord_5=43;refseq.codonCoord_6=43;refseq.codonCoord_7=43;refseq.codonCoord_8=43;refseq.end_1=222870133;refseq.end_2=222870133;refseq.end_3=222870133;refseq.end_4=222870133;refseq.end_5=222870133;refseq.end_6=222870133;refseq.end_7=222870133;refseq.end_8=222870133;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=495;refseq.mrnaCoord_2=495;refseq.mrnaCoord_3=495;refseq.mrnaCoord_4=495;refseq.mrnaCoord_5=495;refseq.mrnaCoord_6=495;refseq.mrnaCoord_7=495;refseq.mrnaCoord_8=495;refseq.name2_1=PAX3;refseq.name2_2=PAX3;refseq.name2_3=PAX3;refseq.name2_4=PAX3;refseq.name2_5=PAX3;refseq.name2_6=PAX3;refseq.name2_7=PAX3;refseq.name2_8=PAX3;refseq.name_1=NM_000438;refseq.name_2=NM_001127366;refseq.name_3=NM_013942;refseq.name_4=NM_181457;refseq.name_5=NM_181458;refseq.name_6=NM_181459;refseq.name_7=NM_181460;refseq.name_8=NM_181461;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.G43G;refseq.proteinCoordStr_2=p.G43G;refseq.proteinCoordStr_3=p.G43G;refseq.proteinCoordStr_4=p.G43G;refseq.proteinCoordStr_5=p.G43G;refseq.proteinCoordStr_6=p.G43G;refseq.proteinCoordStr_7=p.G43G;refseq.proteinCoordStr_8=p.G43G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.referenceCodon_7=GGT;refseq.referenceCodon_8=GGT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.spliceDist_5=44;refseq.spliceDist_6=44;refseq.spliceDist_7=44;refseq.spliceDist_8=44;refseq.start_1=222870133;refseq.start_2=222870133;refseq.start_3=222870133;refseq.start_4=222870133;refseq.start_5=222870133;refseq.start_6=222870133;refseq.start_7=222870133;refseq.start_8=222870133;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;refseq.variantCodon_7=GGC;refseq.variantCodon_8=GGC;set=Intersection GT 1/1 chr2 223131606 . A G 313.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.55;MQ0=0;OQ=4410.70;QD=36.15;RankSumP=1.00000;SB=-2027.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.945A>G;refseq.codonCoord=315;refseq.end=223131606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=945;refseq.name=NM_152386;refseq.name2=SGPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P315P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-256;refseq.start=223131606;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr2 223144851 . C T 418.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=99.00;MQ0=0;OQ=5602.81;QD=41.50;RankSumP=1.00000;SB=-2684.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1753G>A;refseq.codonCoord=585;refseq.end=223144851;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1788;refseq.name=NM_005687;refseq.name2=FARSB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V585I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=135;refseq.start=223144851;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr2 223625873 . C T 51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=99.00;MQ0=0;OQ=1260.32;QD=25.72;RankSumP=1.00000;SB=-505.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=223625873;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_080671;refseq.name2=KCNE4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G27G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=104;refseq.start=223625873;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr2 223626056 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=3.81;MQ=98.10;MQ0=0;OQ=2794.92;QD=31.40;RankSumP=1.00000;SB=-1301.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=223626056;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_080671;refseq.name2=KCNE4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P88P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=287;refseq.start=223626056;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 223626227 . T G 261.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=97.97;MQ0=0;OQ=2699.34;QD=37.49;RankSumP=1.00000;SB=-620.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.435T>G;refseq.codonCoord=145;refseq.end=223626227;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_080671;refseq.name2=KCNE4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D145E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=458;refseq.start=223626227;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr2 224171000 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=2.15693e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1245C>A;refseq.codonCoord=415;refseq.end=224171000;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_003469;refseq.name2=SCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y415*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1099;refseq.start=224171000;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr2 224974338 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.392T>G;refseq.codingCoordStr_2=c.392T>G;refseq.codonCoord_1=131;refseq.codonCoord_2=131;refseq.end_1=224974338;refseq.end_2=224974338;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=618;refseq.name2_1=FAM124B;refseq.name2_2=FAM124B;refseq.name_1=NM_001122779;refseq.name_2=NM_024785;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V131G;refseq.proteinCoordStr_2=p.V131G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-341;refseq.spliceDist_2=-341;refseq.start_1=224974338;refseq.start_2=224974338;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr2 227368788 . C T 204.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=13.87;MQ=97.63;MQ0=0;OQ=2185.70;QD=16.43;RankSumP=0.0713209;SB=-724.18;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2911G>A;refseq.codonCoord=971;refseq.end=227368788;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2963;refseq.name=NM_005544;refseq.name2=IRS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G971R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-840;refseq.start=227368788;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr2 227370997 . C T 355.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=98.81;MQ0=0;OQ=4137.04;QD=18.98;RankSumP=0.256931;SB=-1428.87;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.702G>A;refseq.codonCoord=234;refseq.end=227370997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_005544;refseq.name2=IRS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G234G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=754;refseq.start=227370997;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr2 227581239 . T C 260.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=6.84;MQ=98.78;MQ0=0;OQ=5709.47;QD=20.61;RankSumP=0.0601254;SB=-2233.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.4548A>G;refseq.codonCoord=1516;refseq.end=227581239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5202;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1516V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=26;refseq.start=227581239;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr2 227583446 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.09;MQ0=0;OQ=453.47;QD=16.20;RankSumP=0.489286;SB=-0.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.4349T>C;refseq.codonCoord=1450;refseq.end=227583446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5003;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1450T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=16;refseq.start=227583446;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr2 227620497 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3227A>C;refseq.codonCoord=1076;refseq.end=227620497;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3881;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1076A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=13;refseq.start=227620497;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr2 227624076 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=98.94;MQ0=0;OQ=10245.47;QD=21.99;RankSumP=0.472583;SB=-4362.15;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3011C>T;refseq.codonCoord=1004;refseq.end=227624076;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3665;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1004L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=43;refseq.start=227624076;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 227662843 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.94;MQ0=0;OQ=2199.92;QD=13.50;RankSumP=0.151887;SB=-545.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1444C>T;refseq.codonCoord=482;refseq.end=227662843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2098;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P482S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-16;refseq.start=227662843;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr2 227682217 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.624T>G;refseq.codonCoord=208;refseq.end=227682217;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1278;refseq.name=NM_000092;refseq.name2=COL4A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G208G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=30;refseq.start=227682217;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr2 227819679 . T C 218.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.74;MQ0=0;OQ=3177.30;QD=15.42;RankSumP=0.287465;SB=-1573.04;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.422T>C;refseq.codingCoordStr_2=c.422T>C;refseq.codingCoordStr_3=c.422T>C;refseq.codingCoordStr_4=c.422T>C;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.codonCoord_4=141;refseq.end_1=227819679;refseq.end_2=227819679;refseq.end_3=227819679;refseq.end_4=227819679;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=584;refseq.mrnaCoord_3=584;refseq.mrnaCoord_4=584;refseq.name2_1=COL4A3;refseq.name2_2=COL4A3;refseq.name2_3=COL4A3;refseq.name2_4=COL4A3;refseq.name_1=NM_000091;refseq.name_2=NM_031362;refseq.name_3=NM_031365;refseq.name_4=NM_031366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L141P;refseq.proteinCoordStr_2=p.L141P;refseq.proteinCoordStr_3=p.L141P;refseq.proteinCoordStr_4=p.L141P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.start_1=227819679;refseq.start_2=227819679;refseq.start_3=227819679;refseq.start_4=227819679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr2 227821419 . A G 248.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=3.04;MQ=98.52;MQ0=0;OQ=5025.89;QD=19.87;RankSumP=0.473097;SB=-1355.80;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.485A>G;refseq.codingCoordStr_2=c.485A>G;refseq.codingCoordStr_3=c.485A>G;refseq.codingCoordStr_4=c.485A>G;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.codonCoord_3=162;refseq.codonCoord_4=162;refseq.end_1=227821419;refseq.end_2=227821419;refseq.end_3=227821419;refseq.end_4=227821419;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=647;refseq.mrnaCoord_2=647;refseq.mrnaCoord_3=647;refseq.mrnaCoord_4=647;refseq.name2_1=COL4A3;refseq.name2_2=COL4A3;refseq.name2_3=COL4A3;refseq.name2_4=COL4A3;refseq.name_1=NM_000091;refseq.name_2=NM_031362;refseq.name_3=NM_031365;refseq.name_4=NM_031366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E162G;refseq.proteinCoordStr_2=p.E162G;refseq.proteinCoordStr_3=p.E162G;refseq.proteinCoordStr_4=p.E162G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.start_1=227821419;refseq.start_2=227821419;refseq.start_3=227821419;refseq.start_4=227821419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=Intersection GT 0/1 chr2 227836784 . C T 233.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=98.71;MQ0=0;OQ=5362.30;QD=41.57;RankSumP=1.00000;SB=-1912.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1195C>T;refseq.codingCoordStr_2=c.1195C>T;refseq.codingCoordStr_3=c.1195C>T;refseq.codingCoordStr_4=c.1195C>T;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.codonCoord_3=399;refseq.codonCoord_4=399;refseq.end_1=227836784;refseq.end_2=227836784;refseq.end_3=227836784;refseq.end_4=227836784;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1357;refseq.mrnaCoord_3=1357;refseq.mrnaCoord_4=1357;refseq.name2_1=COL4A3;refseq.name2_2=COL4A3;refseq.name2_3=COL4A3;refseq.name2_4=COL4A3;refseq.name_1=NM_000091;refseq.name_2=NM_031362;refseq.name_3=NM_031365;refseq.name_4=NM_031366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L399L;refseq.proteinCoordStr_2=p.L399L;refseq.proteinCoordStr_3=p.L399L;refseq.proteinCoordStr_4=p.L399L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.spliceDist_4=45;refseq.start_1=227836784;refseq.start_2=227836784;refseq.start_3=227836784;refseq.start_4=227836784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=Intersection GT 1/1 chr2 227843875 . C T 327.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.99;MQ0=0;OQ=6138.40;QD=42.93;RankSumP=1.00000;SB=-2846.08;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1721C>T;refseq.codingCoordStr_2=c.1721C>T;refseq.codingCoordStr_3=c.1721C>T;refseq.codingCoordStr_4=c.1721C>T;refseq.codonCoord_1=574;refseq.codonCoord_2=574;refseq.codonCoord_3=574;refseq.codonCoord_4=574;refseq.end_1=227843875;refseq.end_2=227843875;refseq.end_3=227843875;refseq.end_4=227843875;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1883;refseq.mrnaCoord_2=1883;refseq.mrnaCoord_3=1883;refseq.mrnaCoord_4=1883;refseq.name2_1=COL4A3;refseq.name2_2=COL4A3;refseq.name2_3=COL4A3;refseq.name2_4=COL4A3;refseq.name_1=NM_000091;refseq.name_2=NM_031362;refseq.name_3=NM_031365;refseq.name_4=NM_031366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P574L;refseq.proteinCoordStr_2=p.P574L;refseq.proteinCoordStr_3=p.P574L;refseq.proteinCoordStr_4=p.P574L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=-38;refseq.start_1=227843875;refseq.start_2=227843875;refseq.start_3=227843875;refseq.start_4=227843875;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr2 227855337 . A G 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=175.48;QD=10.32;RankSumP=0.714785;SB=-49.68;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.2501A>G;refseq.codingCoordStr_2=c.2501A>G;refseq.codingCoordStr_3=c.2501A>G;refseq.codingCoordStr_4=c.2501A>G;refseq.codonCoord_1=834;refseq.codonCoord_2=834;refseq.codonCoord_3=834;refseq.codonCoord_4=834;refseq.end_1=227855337;refseq.end_2=227855337;refseq.end_3=227855337;refseq.end_4=227855337;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2663;refseq.mrnaCoord_2=2663;refseq.mrnaCoord_3=2663;refseq.mrnaCoord_4=2663;refseq.name2_1=COL4A3;refseq.name2_2=COL4A3;refseq.name2_3=COL4A3;refseq.name2_4=COL4A3;refseq.name_1=NM_000091;refseq.name_2=NM_031362;refseq.name_3=NM_031365;refseq.name_4=NM_031366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K834R;refseq.proteinCoordStr_2=p.K834R;refseq.proteinCoordStr_3=p.K834R;refseq.proteinCoordStr_4=p.K834R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.start_1=227855337;refseq.start_2=227855337;refseq.start_3=227855337;refseq.start_4=227855337;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=Intersection GT 0/1 chr2 227902724 . A T 348.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=8458.99;QD=42.08;RankSumP=1.00000;SB=-3795.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.19A>T;refseq.codonCoord=7;refseq.end=227902724;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_020194;refseq.name2=MFF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-20;refseq.start=227902724;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr2 227902725 . G T 309.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=8288.35;QD=41.03;RankSumP=1.00000;SB=-3544.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.20G>T;refseq.codonCoord=7;refseq.end=227902725;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_020194;refseq.name2=MFF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-19;refseq.start=227902725;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr2 227936863 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.511A>G;refseq.codonCoord=171;refseq.end=227936863;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_024795;refseq.name2=TM4SF20;refseq.positionType=CDS;refseq.proteinCoordStr=p.R171G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=110;refseq.start=227936863;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr2 228124956 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=732;Dels=0.00;HRun=2;HaplotypeScore=21.90;MQ=98.67;MQ0=0;OQ=11884.23;QD=16.24;RankSumP=0.283582;SB=-4297.81;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.1488A>G;refseq.codingCoordStr_2=c.1416A>G;refseq.codingCoordStr_3=c.1296A>G;refseq.codingCoordStr_4=c.1416A>G;refseq.codonCoord_1=496;refseq.codonCoord_2=472;refseq.codonCoord_3=432;refseq.codonCoord_4=472;refseq.end_1=228124956;refseq.end_2=228124956;refseq.end_3=228124956;refseq.end_4=228124956;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1738;refseq.mrnaCoord_2=1666;refseq.mrnaCoord_3=1546;refseq.mrnaCoord_4=1666;refseq.name2_1=AGFG1;refseq.name2_2=AGFG1;refseq.name2_3=AGFG1;refseq.name2_4=AGFG1;refseq.name_1=NM_001135187;refseq.name_2=NM_001135188;refseq.name_3=NM_001135189;refseq.name_4=NM_004504;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T496T;refseq.proteinCoordStr_2=p.T472T;refseq.proteinCoordStr_3=p.T432T;refseq.proteinCoordStr_4=p.T472T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.spliceDist_4=38;refseq.start_1=228124956;refseq.start_2=228124956;refseq.start_3=228124956;refseq.start_4=228124956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr2 228184497 . C G 121.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=98.63;MQ0=0;OQ=17221.32;QD=45.80;RankSumP=1.00000;SB=-7488.52;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.*114G>C;refseq.codingCoordStr_2=c.310G>C;refseq.codonCoord_2=104;refseq.end_1=228184497;refseq.end_2=228184497;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=640;refseq.mrnaCoord_2=545;refseq.name2_1=C2orf83;refseq.name2_2=C2orf83;refseq.name_1=NM_001162483;refseq.name_2=NM_020161;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E104Q;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=120;refseq.spliceDist_2=120;refseq.start_1=228184497;refseq.start_2=228184497;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr2 228466798 . A T 143.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.66;MQ0=0;OQ=2948.45;QD=12.88;RankSumP=0.391188;SB=-905.58;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.361A>T;refseq.codonCoord=121;refseq.end=228466798;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_178821;refseq.name2=WDR69;refseq.positionType=CDS;refseq.proteinCoordStr=p.T121S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=44;refseq.start=228466798;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr2 228564110 . G C 109.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=8.31;MQ=97.03;MQ0=0;OQ=1469.78;QD=14.13;RankSumP=0.455727;SB=-679.33;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.4809C>G;refseq.codingCoordStr_2=c.4722C>G;refseq.codonCoord_1=1603;refseq.codonCoord_2=1574;refseq.end_1=228564110;refseq.end_2=228564110;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4856;refseq.mrnaCoord_2=4769;refseq.name2_1=SPHKAP;refseq.name2_2=SPHKAP;refseq.name_1=NM_001142644;refseq.name_2=NM_030623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1603R;refseq.proteinCoordStr_2=p.S1574R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=228564110;refseq.start_2=228564110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr2 228590892 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2922A>C;refseq.codingCoordStr_2=c.2922A>C;refseq.codonCoord_1=974;refseq.codonCoord_2=974;refseq.end_1=228590892;refseq.end_2=228590892;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2969;refseq.mrnaCoord_2=2969;refseq.name2_1=SPHKAP;refseq.name2_2=SPHKAP;refseq.name_1=NM_001142644;refseq.name_2=NM_030623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V974V;refseq.proteinCoordStr_2=p.V974V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-1527;refseq.spliceDist_2=-1527;refseq.start_1=228590892;refseq.start_2=228590892;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr2 228591273 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=2168;Dels=0.00;HRun=0;HaplotypeScore=40.22;MQ=98.76;MQ0=0;OQ=42650.26;QD=19.67;RankSumP=0.00100209;SB=-18058.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2541T>G;refseq.codingCoordStr_2=c.2541T>G;refseq.codonCoord_1=847;refseq.codonCoord_2=847;refseq.end_1=228591273;refseq.end_2=228591273;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2588;refseq.mrnaCoord_2=2588;refseq.name2_1=SPHKAP;refseq.name2_2=SPHKAP;refseq.name_1=NM_001142644;refseq.name_2=NM_030623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H847Q;refseq.proteinCoordStr_2=p.H847Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=1844;refseq.spliceDist_2=1844;refseq.start_1=228591273;refseq.start_2=228591273;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 0/1 chr2 228591965 . T C 134.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=741.85;QD=14.55;RankSumP=0.603883;SB=-316.56;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1849A>G;refseq.codingCoordStr_2=c.1849A>G;refseq.codonCoord_1=617;refseq.codonCoord_2=617;refseq.end_1=228591965;refseq.end_2=228591965;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1896;refseq.mrnaCoord_2=1896;refseq.name2_1=SPHKAP;refseq.name2_2=SPHKAP;refseq.name_1=NM_001142644;refseq.name_2=NM_030623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K617E;refseq.proteinCoordStr_2=p.K617E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=1152;refseq.spliceDist_2=1152;refseq.start_1=228591965;refseq.start_2=228591965;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr2 229598904 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=3.43;MQ=98.58;MQ0=0;OQ=3090.29;QD=16.53;RankSumP=0.165148;SB=-451.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.342T>C;refseq.codingCoordStr_2=c.435T>C;refseq.codonCoord_1=114;refseq.codonCoord_2=145;refseq.end_1=229598904;refseq.end_2=229598904;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=640;refseq.mrnaCoord_2=851;refseq.name2_1=PID1;refseq.name2_2=PID1;refseq.name_1=NM_001100818;refseq.name_2=NM_017933;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H114H;refseq.proteinCoordStr_2=p.H145H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=165;refseq.spliceDist_2=165;refseq.start_1=229598904;refseq.start_2=229598904;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr2 230050118 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1243A>C;refseq.codonCoord=415;refseq.end=230050118;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1390;refseq.name=NM_139072;refseq.name2=DNER;refseq.positionType=CDS;refseq.proteinCoordStr=p.T415P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-19;refseq.start=230050118;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 230164709 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.416T>C;refseq.codonCoord=139;refseq.end=230164709;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_139072;refseq.name2=DNER;refseq.positionType=CDS;refseq.proteinCoordStr=p.L139P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=140;refseq.start=230164709;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 230377102 . T C 224.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=5747.89;QD=18.66;RankSumP=0.143415;SB=-1672.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2511A>G;refseq.codonCoord=837;refseq.end=230377102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2620;refseq.name=NM_004238;refseq.name2=TRIP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T837T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=86;refseq.start=230377102;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 230622848 . C A 96 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=80;Dels=0.00;HRun=2;HaplotypeScore=7.79;MQ=95.08;MQ0=0;OQ=95.26;QD=1.19;RankSumP=1.11081e-08;SB=68.23;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.276G>T;refseq.codonCoord=92;refseq.end=230622848;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_152527;refseq.name2=SLC16A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L92F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=17;refseq.start=230622848;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr2 230745104 . C T 142.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=242;Dels=0.00;HRun=2;HaplotypeScore=3.82;MQ=98.69;MQ0=0;OQ=4914.18;QD=20.31;RankSumP=0.271927;SB=-1531.45;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1737G>A;refseq.codingCoordStr_2=c.1737G>A;refseq.codonCoord_1=579;refseq.codonCoord_2=579;refseq.end_1=230745104;refseq.end_2=230745104;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1977;refseq.mrnaCoord_2=1977;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_080424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M579I;refseq.proteinCoordStr_2=p.M579I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=230745104;refseq.start_2=230745104;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr2 230745110 . G A 333.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=4.41;MQ=98.67;MQ0=0;OQ=4833.52;QD=21.29;RankSumP=0.334749;SB=-1704.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1731C>T;refseq.codingCoordStr_2=c.1731C>T;refseq.codonCoord_1=577;refseq.codonCoord_2=577;refseq.end_1=230745110;refseq.end_2=230745110;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1971;refseq.mrnaCoord_2=1971;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_080424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C577C;refseq.proteinCoordStr_2=p.C577C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=230745110;refseq.start_2=230745110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr2 230745860 . A G 251.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.89;MQ0=0;OQ=5540.12;QD=17.64;RankSumP=0.102000;SB=-2108.47;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1650T>C;refseq.codingCoordStr_2=c.1650T>C;refseq.codonCoord_1=550;refseq.codonCoord_2=550;refseq.end_1=230745860;refseq.end_2=230745860;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1890;refseq.mrnaCoord_2=1890;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_080424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G550G;refseq.proteinCoordStr_2=p.G550G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=230745860;refseq.start_2=230745860;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr2 230750520 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1464;Dels=0.00;HRun=0;HaplotypeScore=20.56;MQ=98.82;MQ0=0;OQ=56336.68;QD=38.48;RankSumP=1.00000;SB=-27728.45;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1568T>C;refseq.codingCoordStr_2=c.1568T>C;refseq.codingCoordStr_3=c.1568T>C;refseq.codonCoord_1=523;refseq.codonCoord_2=523;refseq.codonCoord_3=523;refseq.end_1=230750520;refseq.end_2=230750520;refseq.end_3=230750520;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1808;refseq.mrnaCoord_2=1808;refseq.mrnaCoord_3=1808;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M523T;refseq.proteinCoordStr_2=p.M523T;refseq.proteinCoordStr_3=p.M523T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=230750520;refseq.start_2=230750520;refseq.start_3=230750520;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=soap-filterIngatk GT 1/1 chr2 230758959 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=673;Dels=0.00;HRun=0;HaplotypeScore=12.51;MQ=98.82;MQ0=0;OQ=12376.80;QD=18.39;RankSumP=0.341172;SB=-4975.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.1274T>C;refseq.codingCoordStr_2=c.1274T>C;refseq.codingCoordStr_3=c.1274T>C;refseq.codonCoord_1=425;refseq.codonCoord_2=425;refseq.codonCoord_3=425;refseq.end_1=230758959;refseq.end_2=230758959;refseq.end_3=230758959;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1514;refseq.mrnaCoord_2=1514;refseq.mrnaCoord_3=1514;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L425S;refseq.proteinCoordStr_2=p.L425S;refseq.proteinCoordStr_3=p.L425S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=230758959;refseq.start_2=230758959;refseq.start_3=230758959;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chr2 230780953 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=598.71;QD=17.61;RankSumP=0.486354;SB=-152.58;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.895G>A;refseq.codingCoordStr_2=c.895G>A;refseq.codingCoordStr_3=c.895G>A;refseq.codonCoord_1=299;refseq.codonCoord_2=299;refseq.codonCoord_3=299;refseq.end_1=230780953;refseq.end_2=230780953;refseq.end_3=230780953;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1135;refseq.mrnaCoord_2=1135;refseq.mrnaCoord_3=1135;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G299R;refseq.proteinCoordStr_2=p.G299R;refseq.proteinCoordStr_3=p.G299R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=230780953;refseq.start_2=230780953;refseq.start_3=230780953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr2 230785354 . C T 129.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=5521.21;QD=19.04;RankSumP=0.359059;SB=-1720.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.619G>A;refseq.codingCoordStr_2=c.619G>A;refseq.codingCoordStr_3=c.619G>A;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.codonCoord_3=207;refseq.end_1=230785354;refseq.end_2=230785354;refseq.end_3=230785354;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=859;refseq.mrnaCoord_2=859;refseq.mrnaCoord_3=859;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E207K;refseq.proteinCoordStr_2=p.E207K;refseq.proteinCoordStr_3=p.E207K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.start_1=230785354;refseq.start_2=230785354;refseq.start_3=230785354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr2 230785920 . G A 108.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.83;MQ0=0;OQ=1767.61;QD=11.94;RankSumP=0.0531431;SB=-812.07;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.383C>T;refseq.codingCoordStr_2=c.383C>T;refseq.codingCoordStr_3=c.383C>T;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.codonCoord_3=128;refseq.end_1=230785920;refseq.end_2=230785920;refseq.end_3=230785920;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=623;refseq.mrnaCoord_2=623;refseq.mrnaCoord_3=623;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A128V;refseq.proteinCoordStr_2=p.A128V;refseq.proteinCoordStr_3=p.A128V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=230785920;refseq.start_2=230785920;refseq.start_3=230785920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr2 230785969 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.73;MQ0=0;OQ=1713.00;QD=9.11;RankSumP=0.197571;SB=-742.22;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.334T>C;refseq.codingCoordStr_2=c.334T>C;refseq.codingCoordStr_3=c.334T>C;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=230785969;refseq.end_2=230785969;refseq.end_3=230785969;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=574;refseq.mrnaCoord_3=574;refseq.name2_1=SP110;refseq.name2_2=SP110;refseq.name2_3=SP110;refseq.name_1=NM_004509;refseq.name_2=NM_004510;refseq.name_3=NM_080424;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.W112R;refseq.proteinCoordStr_2=p.W112R;refseq.proteinCoordStr_3=p.W112R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=230785969;refseq.start_2=230785969;refseq.start_3=230785969;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr2 230818826 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.75;MQ0=0;OQ=2097.53;QD=15.20;RankSumP=0.346048;SB=-684.58;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.669C>T;refseq.codonCoord=223;refseq.end=230818826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_007237;refseq.name2=SP140;refseq.positionType=CDS;refseq.proteinCoordStr=p.S223S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=230818826;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr2 230857352 . G A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=4;HaplotypeScore=1.11;MQ=96.06;MQ0=1;OQ=9042.18;QD=39.66;RankSumP=1.00000;SB=-4425.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1546G>A;refseq.codonCoord=516;refseq.end=230857352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1661;refseq.name=NM_007237;refseq.name2=SP140;refseq.positionType=CDS;refseq.proteinCoordStr=p.E516K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=230857352;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 230865724 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1945T>G;refseq.codonCoord=649;refseq.end=230865724;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2060;refseq.name=NM_007237;refseq.name2=SP140;refseq.positionType=CDS;refseq.proteinCoordStr=p.W649G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-24;refseq.start=230865724;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 231040140 . G A 150.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=9.46;MQ=98.84;MQ0=0;OQ=2774.00;QD=15.58;RankSumP=0.0662266;SB=-1072.73;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1257G>A;refseq.codingCoordStr_2=c.1257G>A;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.end_1=231040140;refseq.end_2=231040140;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1398;refseq.mrnaCoord_2=1398;refseq.name2_1=SP100;refseq.name2_2=SP100;refseq.name_1=NM_001080391;refseq.name_2=NM_003113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S419S;refseq.proteinCoordStr_2=p.S419S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=231040140;refseq.start_2=231040140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr2 231042007 . A G 147.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.83;MQ0=0;OQ=3026.90;QD=14.69;RankSumP=0.474069;SB=-837.42;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1297A>G;refseq.codingCoordStr_2=c.1297A>G;refseq.codonCoord_1=433;refseq.codonCoord_2=433;refseq.end_1=231042007;refseq.end_2=231042007;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1438;refseq.mrnaCoord_2=1438;refseq.name2_1=SP100;refseq.name2_2=SP100;refseq.name_1=NM_001080391;refseq.name_2=NM_003113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M433V;refseq.proteinCoordStr_2=p.M433V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=231042007;refseq.start_2=231042007;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr2 231046287 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1434A>C;refseq.codingCoordStr_2=c.1434A>C;refseq.codonCoord_1=478;refseq.codonCoord_2=478;refseq.end_1=231046287;refseq.end_2=231046287;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1575;refseq.mrnaCoord_2=1575;refseq.name2_1=SP100;refseq.name2_2=SP100;refseq.name_1=NM_001080391;refseq.name_2=NM_003113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S478S;refseq.proteinCoordStr_2=p.S478S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=231046287;refseq.start_2=231046287;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr2 231114924 . T C 327.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.78;MQ0=0;OQ=10178.21;QD=37.70;RankSumP=1.00000;SB=-4316.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2477T>C;refseq.codonCoord=826;refseq.end=231114924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2618;refseq.name=NM_001080391;refseq.name2=SP100;refseq.positionType=CDS;refseq.proteinCoordStr=p.M826T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-71;refseq.start=231114924;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 231781156 . T C 142.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.76;MQ0=0;OQ=2502.37;QD=17.62;RankSumP=0.172744;SB=-656.02;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.124T>C;refseq.codonCoord=42;refseq.end=231781156;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_025139;refseq.name2=ARMC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L42L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-54;refseq.start=231781156;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 231795718 . A G 306.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=6234.06;QD=42.70;RankSumP=1.00000;SB=-2423.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.538A>G;refseq.codonCoord=180;refseq.end=231795718;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_025139;refseq.name2=ARMC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I180V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=34;refseq.start=231795718;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr2 231795719 . T A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=5955.51;QD=41.65;RankSumP=1.00000;SB=-2344.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.539T>A;refseq.codonCoord=180;refseq.end=231795719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_025139;refseq.name2=ARMC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I180K;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=35;refseq.start=231795719;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 232166687 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=92;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=98.95;MQ0=0;OQ=3126.94;QD=33.99;RankSumP=1.00000;SB=-1299.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.781T>C;refseq.codonCoord=261;refseq.end=232166687;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_152614;refseq.name2=C2orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.S261P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-550;refseq.start=232166687;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr2 232361535 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.11A>G;refseq.codonCoord=4;refseq.end=232361535;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=114;refseq.name=NM_022730;refseq.name2=COPS7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E4G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=27;refseq.start=232361535;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr2 232588487 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.72T>G;refseq.codonCoord=24;refseq.end=232588487;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_152383;refseq.name2=DIS3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G24G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=20;refseq.start=232588487;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 232660500 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=241;Dels=0.00;HRun=0;HaplotypeScore=6.45;MQ=98.79;MQ0=0;OQ=4543.26;QD=18.85;RankSumP=0.237065;SB=-1326.88;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.426C>T;refseq.codonCoord=142;refseq.end=232660500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_152383;refseq.name2=DIS3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=60;refseq.start=232660500;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr2 232836223 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=348;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=98.76;MQ0=0;OQ=7263.05;QD=20.87;RankSumP=0.0801811;SB=-2704.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1488T>C;refseq.codonCoord=496;refseq.end=232836223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1764;refseq.name=NM_152383;refseq.name2=DIS3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H496H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=63;refseq.start=232836223;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 232909572 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=96.20;MQ0=0;OQ=488.06;QD=11.09;RankSumP=0.686667;SB=-194.65;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2646A>G;refseq.codonCoord=882;refseq.end=232909572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2922;refseq.name=NM_152383;refseq.name2=DIS3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S882S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=150;refseq.start=232909572;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr2 232951830 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=93.31;MQ0=0;OQ=494.62;QD=8.11;RankSumP=0.726640;SB=-78.49;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.74C>T;refseq.codonCoord=25;refseq.end=232951830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=232951830;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr2 232952830 . C G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=339;Dels=0.00;HRun=1;HaplotypeScore=11.78;MQ=49.90;MQ0=76;OQ=7914.27;QD=23.35;RankSumP=1.00000;SB=-3714.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.597C>G;refseq.codonCoord=199;refseq.end=232952830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-61;refseq.start=232952830;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr2 232953174 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=9.69;MQ=38.39;MQ0=60;OQ=178.45;QD=0.94;RankSumP=0.642422;SB=81.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.692G>C;refseq.codonCoord=231;refseq.end=232953174;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R231P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=35;refseq.start=232953174;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr2 232953264 . C G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.504233;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.782C>G;refseq.codonCoord=261;refseq.end=232953264;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A261G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-11;refseq.start=232953264;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 232953270 . G A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=13.16;MQ=68.38;MQ0=17;OQ=353.94;QD=5.71;RankSumP=0.698612;SB=-147.59;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.788G>A;refseq.codonCoord=263;refseq.end=232953270;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R263H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=232953270;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 232953385 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=24.00;MQ=37.72;MQ0=146;OQ=5557.03;QD=11.11;RankSumP=0.0952422;SB=-1244.66;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.804T>C;refseq.codonCoord=268;refseq.end=232953385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_001632;refseq.name2=ALPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y268Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=12;refseq.start=232953385;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr2 232981345 . C G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500160;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.773C>G;refseq.codonCoord=258;refseq.end=232981345;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_031313;refseq.name2=ALPPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A258G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-11;refseq.start=232981345;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr2 232981488 . C A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=9.45;MQ=30.70;MQ0=134;OQ=2172.43;QD=10.55;RankSumP=1.00000;SB=-1056.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.817C>A;refseq.codonCoord=273;refseq.end=232981488;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_031313;refseq.name2=ALPPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L273M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=34;refseq.start=232981488;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr2 232982389 . G C 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=30.90;MQ0=12;OQ=57.85;QD=3.40;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1287G>C;refseq.codonCoord=429;refseq.end=232982389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1340;refseq.name=NM_031313;refseq.name2=ALPPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T429T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-14;refseq.start=232982389;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr2 232982719 . C A 3 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=49.51;MQ0=7;OQ=332.03;QD=8.97;RankSumP=0.333333;SB=-124.45;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1492C>A;refseq.codonCoord=498;refseq.end=232982719;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_031313;refseq.name2=ALPPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R498S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=192;refseq.start=232982719;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr2 233057832 . G A 112.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=17.60;MQ=98.64;MQ0=0;OQ=16215.80;QD=39.17;RankSumP=1.00000;SB=-5483.45;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.982C>T;refseq.codonCoord=328;refseq.end=233057832;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_004826;refseq.name2=ECEL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H328Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=16;refseq.start=233057832;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr2 233118538 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=6.57;MQ=98.68;MQ0=0;OQ=1106.67;QD=12.30;RankSumP=0.150654;SB=-276.13;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1422C>T;refseq.codonCoord=474;refseq.end=233118538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_005199;refseq.name2=CHRNG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R474R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=42;refseq.start=233118538;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr2 233417050 . A G 357.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.53;MQ0=0;OQ=1963.68;QD=39.27;RankSumP=1.00000;SB=-480.58;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.2940A>G;refseq.codingCoordStr_2=c.3003A>G;refseq.codingCoordStr_3=c.2922A>G;refseq.codingCoordStr_4=c.2940A>G;refseq.codonCoord_1=980;refseq.codonCoord_2=1001;refseq.codonCoord_3=974;refseq.codonCoord_4=980;refseq.end_1=233417050;refseq.end_2=233417050;refseq.end_3=233417050;refseq.end_4=233417050;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3137;refseq.mrnaCoord_2=3270;refseq.mrnaCoord_3=3053;refseq.mrnaCoord_4=3277;refseq.name2_1=GIGYF2;refseq.name2_2=GIGYF2;refseq.name2_3=GIGYF2;refseq.name2_4=GIGYF2;refseq.name_1=NM_001103146;refseq.name_2=NM_001103147;refseq.name_3=NM_001103148;refseq.name_4=NM_015575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q980Q;refseq.proteinCoordStr_2=p.Q1001Q;refseq.proteinCoordStr_3=p.Q974Q;refseq.proteinCoordStr_4=p.Q980Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.start_1=233417050;refseq.start_2=233417050;refseq.start_3=233417050;refseq.start_4=233417050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/1 chr2 233420471 . A G 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=12;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.3630A>G;refseq.codingCoordStr_2=c.3693A>G;refseq.codingCoordStr_3=c.3612A>G;refseq.codingCoordStr_4=c.3630A>G;refseq.codonCoord_1=1210;refseq.codonCoord_2=1231;refseq.codonCoord_3=1204;refseq.codonCoord_4=1210;refseq.end_1=233420471;refseq.end_2=233420471;refseq.end_3=233420471;refseq.end_4=233420471;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3827;refseq.mrnaCoord_2=3960;refseq.mrnaCoord_3=3743;refseq.mrnaCoord_4=3967;refseq.name2_1=GIGYF2;refseq.name2_2=GIGYF2;refseq.name2_3=GIGYF2;refseq.name2_4=GIGYF2;refseq.name_1=NM_001103146;refseq.name_2=NM_001103147;refseq.name_3=NM_001103148;refseq.name_4=NM_015575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P1210P;refseq.proteinCoordStr_2=p.P1231P;refseq.proteinCoordStr_3=p.P1204P;refseq.proteinCoordStr_4=p.P1210P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.start_1=233420471;refseq.start_2=233420471;refseq.start_3=233420471;refseq.start_4=233420471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=FilteredInAll GT 1/1 chr2 233420473 . A C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.158726;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.3632A>C;refseq.codingCoordStr_2=c.3695A>C;refseq.codingCoordStr_3=c.3614A>C;refseq.codingCoordStr_4=c.3632A>C;refseq.codonCoord_1=1211;refseq.codonCoord_2=1232;refseq.codonCoord_3=1205;refseq.codonCoord_4=1211;refseq.end_1=233420473;refseq.end_2=233420473;refseq.end_3=233420473;refseq.end_4=233420473;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3829;refseq.mrnaCoord_2=3962;refseq.mrnaCoord_3=3745;refseq.mrnaCoord_4=3969;refseq.name2_1=GIGYF2;refseq.name2_2=GIGYF2;refseq.name2_3=GIGYF2;refseq.name2_4=GIGYF2;refseq.name_1=NM_001103146;refseq.name_2=NM_001103147;refseq.name_3=NM_001103148;refseq.name_4=NM_015575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q1211P;refseq.proteinCoordStr_2=p.Q1232P;refseq.proteinCoordStr_3=p.Q1205P;refseq.proteinCoordStr_4=p.Q1211P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.spliceDist_4=-53;refseq.start_1=233420473;refseq.start_2=233420473;refseq.start_3=233420473;refseq.start_4=233420473;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=FilteredInAll GT 0/1 chr2 233420492 . G A 84.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=97.69;MQ0=0;OQ=610.83;QD=21.82;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.3651G>A;refseq.codingCoordStr_2=c.3714G>A;refseq.codingCoordStr_3=c.3633G>A;refseq.codingCoordStr_4=c.3651G>A;refseq.codonCoord_1=1217;refseq.codonCoord_2=1238;refseq.codonCoord_3=1211;refseq.codonCoord_4=1217;refseq.end_1=233420492;refseq.end_2=233420492;refseq.end_3=233420492;refseq.end_4=233420492;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3848;refseq.mrnaCoord_2=3981;refseq.mrnaCoord_3=3764;refseq.mrnaCoord_4=3988;refseq.name2_1=GIGYF2;refseq.name2_2=GIGYF2;refseq.name2_3=GIGYF2;refseq.name2_4=GIGYF2;refseq.name_1=NM_001103146;refseq.name_2=NM_001103147;refseq.name_3=NM_001103148;refseq.name_4=NM_015575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P1217P;refseq.proteinCoordStr_2=p.P1238P;refseq.proteinCoordStr_3=p.P1211P;refseq.proteinCoordStr_4=p.P1217P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.start_1=233420492;refseq.start_2=233420492;refseq.start_3=233420492;refseq.start_4=233420492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/1 chr2 233420510 . G C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.500038;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_1=c.3669G>C;refseq.codingCoordStr_2=c.3732G>C;refseq.codingCoordStr_3=c.3651G>C;refseq.codingCoordStr_4=c.3669G>C;refseq.codonCoord_1=1223;refseq.codonCoord_2=1244;refseq.codonCoord_3=1217;refseq.codonCoord_4=1223;refseq.end_1=233420510;refseq.end_2=233420510;refseq.end_3=233420510;refseq.end_4=233420510;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3866;refseq.mrnaCoord_2=3999;refseq.mrnaCoord_3=3782;refseq.mrnaCoord_4=4006;refseq.name2_1=GIGYF2;refseq.name2_2=GIGYF2;refseq.name2_3=GIGYF2;refseq.name2_4=GIGYF2;refseq.name_1=NM_001103146;refseq.name_2=NM_001103147;refseq.name_3=NM_001103148;refseq.name_4=NM_015575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q1223H;refseq.proteinCoordStr_2=p.Q1244H;refseq.proteinCoordStr_3=p.Q1217H;refseq.proteinCoordStr_4=p.Q1223H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.start_1=233420510;refseq.start_2=233420510;refseq.start_3=233420510;refseq.start_4=233420510;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=FilteredInAll GT 0/1 chr2 233458318 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=385;Dels=0.00;HRun=2;HaplotypeScore=8.58;MQ=98.64;MQ0=0;OQ=15323.61;QD=39.80;RankSumP=1.00000;SB=-4538.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1077G>A;refseq.codingCoordStr_2=c.1353G>A;refseq.codonCoord_1=359;refseq.codonCoord_2=451;refseq.end_1=233458318;refseq.end_2=233458318;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1229;refseq.mrnaCoord_2=1601;refseq.name2_1=NGEF;refseq.name2_2=NGEF;refseq.name_1=NM_001114090;refseq.name_2=NM_019850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V359V;refseq.proteinCoordStr_2=p.V451V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=233458318;refseq.start_2=233458318;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr2 233465941 . A G 294.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=98.58;MQ0=0;OQ=6091.10;QD=36.26;RankSumP=1.00000;SB=-1741.06;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.777T>C;refseq.codingCoordStr_2=c.1053T>C;refseq.codonCoord_1=259;refseq.codonCoord_2=351;refseq.end_1=233465941;refseq.end_2=233465941;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=929;refseq.mrnaCoord_2=1301;refseq.name2_1=NGEF;refseq.name2_2=NGEF;refseq.name_1=NM_001114090;refseq.name_2=NM_019850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I259I;refseq.proteinCoordStr_2=p.I351I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=233465941;refseq.start_2=233465941;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr2 233493259 . G A 461.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.46;MQ0=0;OQ=4901.24;QD=40.51;RankSumP=1.00000;SB=-2215.31;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.531C>T;refseq.codingCoordStr_2=c.807C>T;refseq.codonCoord_1=177;refseq.codonCoord_2=269;refseq.end_1=233493259;refseq.end_2=233493259;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=1055;refseq.name2_1=NGEF;refseq.name2_2=NGEF;refseq.name_1=NM_001114090;refseq.name_2=NM_019850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P177P;refseq.proteinCoordStr_2=p.P269P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=233493259;refseq.start_2=233493259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr2 233543219 . A G 246.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=98.74;MQ0=0;OQ=14348.79;QD=37.56;RankSumP=1.00000;SB=-6870.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.332T>C;refseq.codonCoord=111;refseq.end=233543219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=580;refseq.name=NM_019850;refseq.name2=NGEF;refseq.positionType=CDS;refseq.proteinCoordStr=p.M111T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-52;refseq.start=233543219;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr2 233607370 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=97.48;MQ0=0;OQ=1183.36;QD=12.20;RankSumP=0.391174;SB=-562.87;SecondBestBaseQ=32;set=Intersection GT 1/0 chr2 233848107 . A G 302.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=11.34;MQ=98.69;MQ0=0;OQ=4936.63;QD=20.92;RankSumP=0.0159794;SB=-1535.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.841A>G;refseq.codingCoordStr_2=c.898A>G;refseq.codonCoord_1=281;refseq.codonCoord_2=300;refseq.end_1=233848107;refseq.end_2=233848107;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1098;refseq.mrnaCoord_2=1155;refseq.name2_1=ATG16L1;refseq.name2_2=ATG16L1;refseq.name_1=NM_017974;refseq.name_2=NM_030803;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T281A;refseq.proteinCoordStr_2=p.T300A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=233848107;refseq.start_2=233848107;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr2 233849156 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=890;Dels=0.00;HRun=0;HaplotypeScore=28.54;MQ=98.77;MQ0=0;OQ=18149.24;QD=20.39;RankSumP=0.238101;SB=-7113.65;SecondBestBaseQ=33;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.end_1=233850942;refseq.end_2=233850942;refseq.end_3=233849156;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=46;refseq.name2_1=ATG16L1;refseq.name2_2=ATG16L1;refseq.name2_3=SCARNA5;refseq.name_1=NM_017974;refseq.name_2=NM_030803;refseq.name_3=NR_003008;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=46;refseq.start_1=233848174;refseq.start_2=233848174;refseq.start_3=233849156;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/0 chr2 234036090 . G A 348.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.59;MQ0=0;OQ=6261.80;QD=40.14;RankSumP=1.00000;SB=-2636.48;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.3024G>A;refseq.codingCoordStr_2=c.3156G>A;refseq.codonCoord_1=1008;refseq.codonCoord_2=1052;refseq.end_1=234036090;refseq.end_2=234036090;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3103;refseq.mrnaCoord_2=3168;refseq.name2_1=DGKD;refseq.name2_2=DGKD;refseq.name_1=NM_003648;refseq.name_2=NM_152879;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1008T;refseq.proteinCoordStr_2=p.T1052T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=234036090;refseq.start_2=234036090;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr2 234245705 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=93.79;MQ0=0;OQ=741.20;QD=4.55;SB=-151.81;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_3=c.386A>G;refseq.codonCoord_3=129;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234245705;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=423;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K129R;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAA;refseq.spliceDist_3=423;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234245705;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:134,29:160:-125.58,-48.18,-576.82:99 chr2 234245706 rs28946876 A G 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=93.80;MQ0=0;OQ=730.18;QD=4.43;SB=-147.80;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_3=c.387A>G;refseq.codonCoord_3=129;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234245706;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=424;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K129K;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAA;refseq.spliceDist_3=424;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234245706;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:136,29:162:-125.08,-48.78,-591.05:99 chr2 234245741 . C G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=263;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=82.40;MQ0=0;OQ=805.18;QD=3.06;SB=-382.28;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_3=c.422C>G;refseq.codonCoord_3=141;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234245741;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=459;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S141C;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCT;refseq.spliceDist_3=-434;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234245741;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Cys;refseq.variantCodon_3=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:231,32:257:-161.19,-77.39,-1086.46:99 chr2 234255355 . C A 131.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=575;Dels=0.00;HRun=0;HaplotypeScore=15.40;MQ=97.73;MQ0=0;OQ=8573.58;QD=14.91;RankSumP=8.81488e-06;SB=-3410.86;SecondBestBaseQ=27;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.33C>A;refseq.codonCoord_4=11;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255355;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=33;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P11P;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCC;refseq.spliceDist_4=33;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Pro;refseq.variantCodon_4=CCA;set=filterInsoap-gatk GT 1/0 chr2 234255708 rs56385016 A G 855.90 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=4.64;MQ=81.72;MQ0=3;QD=5.01;SB=-344.40;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.386A>G;refseq.codonCoord_4=129;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255708;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=386;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.N129S;refseq.referenceAA_4=Asn;refseq.referenceCodon_4=AAT;refseq.spliceDist_4=386;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255708;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ser;refseq.variantCodon_4=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:136,35:166:-138.86,-49.99,-573.64:99 chr2 234255709 rs17868323 T G 783.34 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=4.64;MQ=81.29;MQ0=3;QD=4.61;SB=-314.09;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.387T>G;refseq.codonCoord_4=129;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255709;refseq.frame_4=2;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=387;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.N129K;refseq.referenceAA_4=Asn;refseq.referenceCodon_4=AAT;refseq.spliceDist_4=387;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255709;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Lys;refseq.variantCodon_4=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:136,33:166:-131.60,-49.99,-527.34:99 chr2 234255713 rs17863778 C A 776.14 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=78.71;MQ0=3;QD=4.46;SB=-386.29;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.391C>A;refseq.codonCoord_4=131;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255713;refseq.frame_4=0;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=391;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R131R;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGA;refseq.spliceDist_4=391;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255713;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:138,35:167:-131.18,-50.29,-528.67:99 chr2 234255714 . G A 913.56 BadSOAPSNP;ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=4;HaplotypeScore=5.62;MQ=78.00;MQ0=3;QD=5.19;RankSumP=0.342535;SB=-457.73;SecondBestBaseQ=34;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.392G>A;refseq.codonCoord_4=131;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255714;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=392;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R131Q;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGA;refseq.spliceDist_4=392;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255714;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Gln;refseq.variantCodon_4=CAA;set=FilteredInAll GT 1/0 chr2 234255944 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=844;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=68.59;MQ0=77;OQ=12004.77;QD=14.22;RankSumP=0.214060;SB=-3932.46;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.622T>C;refseq.codonCoord_4=208;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234255944;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=622;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.W208R;refseq.referenceAA_4=Trp;refseq.referenceCodon_4=TGG;refseq.spliceDist_4=-234;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234255944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGG;set=Intersection GT 1/0 chr2 234266408 . T G 199.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=98.63;MQ0=0;OQ=2809.37;QD=13.38;RankSumP=0.194455;SB=-1194.09;SecondBestBaseQ=32;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_6=c.19T>G;refseq.codonCoord_6=7;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234267173;refseq.end_6=234266408;refseq.frame_6=0;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_6=158;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_205862;refseq.name_6=NM_001072;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.S7A;refseq.referenceAA_6=Ser;refseq.referenceCodon_6=TCA;refseq.spliceDist_6=158;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234265216;refseq.start_6=234266408;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_6=Ala;refseq.variantCodon_6=GCA;set=Intersection GT 1/0 chr2 234266704 . A G 242.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=4316.50;QD=21.58;RankSumP=0.335394;SB=-1252.17;SecondBestBaseQ=33;refseq.changesAA_6=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_6=c.315A>G;refseq.codonCoord_6=105;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234267173;refseq.end_6=234266704;refseq.frame_6=2;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_6=454;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_205862;refseq.name_6=NM_001072;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.L105L;refseq.referenceAA_6=Leu;refseq.referenceCodon_6=CTA;refseq.spliceDist_6=454;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234265216;refseq.start_6=234266704;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_6=Leu;refseq.variantCodon_6=CTG;set=Intersection GT 0/1 chr2 234266930 . A G 355.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.33;MQ0=0;OQ=6327.87;QD=18.72;RankSumP=0.161142;SB=-1483.59;SecondBestBaseQ=33;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_6=c.541A>G;refseq.codonCoord_6=181;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234267173;refseq.end_6=234266930;refseq.frame_6=0;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_6=680;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_205862;refseq.name_6=NM_001072;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.T181A;refseq.referenceAA_6=Thr;refseq.referenceCodon_6=ACA;refseq.spliceDist_6=-321;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234265216;refseq.start_6=234266930;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_6=Ala;refseq.variantCodon_6=GCA;set=Intersection GT 0/1 chr2 234266941 . A C 327.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.36;MQ0=0;OQ=5269.45;QD=18.95;RankSumP=0.199167;SB=-1031.90;SecondBestBaseQ=32;refseq.changesAA_6=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.codingCoordStr_6=c.552A>C;refseq.codonCoord_6=184;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234267173;refseq.end_6=234266941;refseq.frame_6=2;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_6=691;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_205862;refseq.name_6=NM_001072;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.R184S;refseq.referenceAA_6=Arg;refseq.referenceCodon_6=AGA;refseq.spliceDist_6=-310;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234265216;refseq.start_6=234266941;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_6=Ser;refseq.variantCodon_6=AGC;set=Intersection GT 0/1 chr2 234287168 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=676;Dels=0.00;HRun=0;HaplotypeScore=31.18;MQ=25.65;MQ0=262;OQ=5393.12;QD=7.98;RankSumP=0.00114665;SB=-472.41;SecondBestBaseQ=29;refseq.changesAA_7=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.codingCoordStr_7=c.792T>C;refseq.codonCoord_7=264;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234287168;refseq.frame_7=2;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_7=792;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.proteinCoordStr_7=p.D264D;refseq.referenceAA_7=Asp;refseq.referenceCodon_7=GAT;refseq.spliceDist_7=-76;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_7=Asp;refseq.variantCodon_7=GAC;set=FilteredInAll GT 1/0 chr2 234292676 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=780;Dels=0.00;HRun=0;HaplotypeScore=13.96;MQ=90.46;MQ0=14;OQ=12695.34;QD=16.28;RankSumP=0.0845470;SB=-4509.50;SecondBestBaseQ=33;refseq.changesAA_8=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.codingCoordStr_8=c.471T>C;refseq.codonCoord_8=157;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234340408;refseq.end_8=234292676;refseq.frame_8=2;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.mrnaCoord_8=500;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A4;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.name_8=NM_007120;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=CDS;refseq.proteinCoordStr_8=p.C157C;refseq.referenceAA_8=Cys;refseq.referenceCodon_8=TGT;refseq.spliceDist_8=-397;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287254;refseq.start_8=234292676;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_8=Cys;refseq.variantCodon_8=TGC;set=Intersection GT 1/0 chr2 234302542 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=390;Dels=0.00;HRun=0;HaplotypeScore=21.74;MQ=68.40;MQ0=43;OQ=2386.80;QD=6.12;RankSumP=0.0627847;SB=-833.31;SecondBestBaseQ=29;refseq.changesAA_9=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_9=c.31T>C;refseq.codonCoord_9=11;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234340408;refseq.end_8=234340408;refseq.end_9=234302542;refseq.frame_9=0;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_9=31;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A4;refseq.name2_9=UGT1A3;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.name_8=NM_007120;refseq.name_9=NM_019093;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_9=p.W11R;refseq.referenceAA_9=Trp;refseq.referenceCodon_9=TGG;refseq.spliceDist_9=31;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287254;refseq.start_8=234293083;refseq.start_9=234302542;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_9=Arg;refseq.variantCodon_9=CGG;set=Intersection GT 1/0 chr2 234302592 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=13.05;MQ=63.01;MQ0=18;OQ=2665.84;QD=13.26;RankSumP=0.235040;SB=-1052.64;SecondBestBaseQ=31;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_9=c.81G>A;refseq.codonCoord_9=27;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234340408;refseq.end_8=234340408;refseq.end_9=234302592;refseq.frame_9=2;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_9=81;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A4;refseq.name2_9=UGT1A3;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.name_8=NM_007120;refseq.name_9=NM_019093;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_9=p.E27E;refseq.referenceAA_9=Glu;refseq.referenceCodon_9=GAG;refseq.spliceDist_9=81;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287254;refseq.start_8=234293083;refseq.start_9=234302592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_9=Glu;refseq.variantCodon_9=GAA;set=Intersection GT 1/0 chr2 234302651 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=60.19;MQ0=11;OQ=2182.81;QD=11.67;RankSumP=0.336592;SB=-1029.28;SecondBestBaseQ=31;refseq.changesAA_9=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_9=c.140T>C;refseq.codonCoord_9=47;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234340408;refseq.end_8=234340408;refseq.end_9=234302651;refseq.frame_9=1;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_9=140;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A4;refseq.name2_9=UGT1A3;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.name_8=NM_007120;refseq.name_9=NM_019093;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_9=p.V47A;refseq.referenceAA_9=Val;refseq.referenceCodon_9=GTC;refseq.spliceDist_9=140;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287254;refseq.start_8=234293083;refseq.start_9=234302651;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_9=Ala;refseq.variantCodon_9=GCC;set=Intersection GT 1/0 chr2 234302988 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=901;Dels=0.00;HRun=1;HaplotypeScore=8.02;MQ=82.40;MQ0=18;OQ=16200.67;QD=17.98;RankSumP=0.361710;SB=-6085.20;SecondBestBaseQ=32;refseq.changesAA_9=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_9=c.477A>G;refseq.codonCoord_9=159;refseq.end_1=234340408;refseq.end_2=234340408;refseq.end_3=234340408;refseq.end_4=234340408;refseq.end_5=234340408;refseq.end_6=234340408;refseq.end_7=234340408;refseq.end_8=234340408;refseq.end_9=234302988;refseq.frame_9=2;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_9=477;refseq.name2_1=UGT1A8;refseq.name2_2=UGT1A10;refseq.name2_3=UGT1A9;refseq.name2_4=UGT1A7;refseq.name2_5=UGT1A6;refseq.name2_6=UGT1A6;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A4;refseq.name2_9=UGT1A3;refseq.name_1=NM_019076;refseq.name_2=NM_019075;refseq.name_3=NM_021027;refseq.name_4=NM_019077;refseq.name_5=NM_001072;refseq.name_6=NM_205862;refseq.name_7=NM_019078;refseq.name_8=NM_007120;refseq.name_9=NM_019093;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_9=p.A159A;refseq.referenceAA_9=Ala;refseq.referenceCodon_9=GCA;refseq.spliceDist_9=-391;refseq.start_1=234191958;refseq.start_2=234210773;refseq.start_3=234246185;refseq.start_4=234256188;refseq.start_5=234267261;refseq.start_6=234267261;refseq.start_7=234287254;refseq.start_8=234293083;refseq.start_9=234302988;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_9=Ala;refseq.variantCodon_9=GCG;set=Intersection GT 0/1 chr2 234345884 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr2;refseq.chr_10=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.chr_6=chr2;refseq.chr_7=chr2;refseq.chr_8=chr2;refseq.chr_9=chr2;refseq.codingCoordStr_1=c.1542C>A;refseq.codingCoordStr_10=c.738C>A;refseq.codingCoordStr_2=c.1539C>A;refseq.codingCoordStr_3=c.1545C>A;refseq.codingCoordStr_4=c.1533C>A;refseq.codingCoordStr_5=c.1533C>A;refseq.codingCoordStr_6=c.1533C>A;refseq.codingCoordStr_7=c.1545C>A;refseq.codingCoordStr_8=c.1545C>A;refseq.codingCoordStr_9=c.1533C>A;refseq.codonCoord_1=514;refseq.codonCoord_10=246;refseq.codonCoord_2=513;refseq.codonCoord_3=515;refseq.codonCoord_4=511;refseq.codonCoord_5=511;refseq.codonCoord_6=511;refseq.codonCoord_7=515;refseq.codonCoord_8=515;refseq.codonCoord_9=511;refseq.end_1=234345884;refseq.end_10=234345884;refseq.end_2=234345884;refseq.end_3=234345884;refseq.end_4=234345884;refseq.end_5=234345884;refseq.end_6=234345884;refseq.end_7=234345884;refseq.end_8=234345884;refseq.end_9=234345884;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_10=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.functionalClass_5=nonsense;refseq.functionalClass_6=nonsense;refseq.functionalClass_7=nonsense;refseq.functionalClass_8=nonsense;refseq.functionalClass_9=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_10=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1557;refseq.mrnaCoord_10=891;refseq.mrnaCoord_2=1678;refseq.mrnaCoord_3=1574;refseq.mrnaCoord_4=1579;refseq.mrnaCoord_5=1596;refseq.mrnaCoord_6=1533;refseq.mrnaCoord_7=1545;refseq.mrnaCoord_8=1545;refseq.mrnaCoord_9=1570;refseq.name2_1=UGT1A1;refseq.name2_10=UGT1A6;refseq.name2_2=UGT1A6;refseq.name2_3=UGT1A4;refseq.name2_4=UGT1A10;refseq.name2_5=UGT1A8;refseq.name2_6=UGT1A7;refseq.name2_7=UGT1A5;refseq.name2_8=UGT1A3;refseq.name2_9=UGT1A9;refseq.name_1=NM_000463;refseq.name_10=NM_205862;refseq.name_2=NM_001072;refseq.name_3=NM_007120;refseq.name_4=NM_019075;refseq.name_5=NM_019076;refseq.name_6=NM_019077;refseq.name_7=NM_019078;refseq.name_8=NM_019093;refseq.name_9=NM_021027;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.Y514*;refseq.proteinCoordStr_10=p.Y246*;refseq.proteinCoordStr_2=p.Y513*;refseq.proteinCoordStr_3=p.Y515*;refseq.proteinCoordStr_4=p.Y511*;refseq.proteinCoordStr_5=p.Y511*;refseq.proteinCoordStr_6=p.Y511*;refseq.proteinCoordStr_7=p.Y515*;refseq.proteinCoordStr_8=p.Y515*;refseq.proteinCoordStr_9=p.Y511*;refseq.referenceAA_1=Tyr;refseq.referenceAA_10=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceAA_9=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_10=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.referenceCodon_8=TAC;refseq.referenceCodon_9=TAC;refseq.spliceDist_1=238;refseq.spliceDist_10=238;refseq.spliceDist_2=238;refseq.spliceDist_3=238;refseq.spliceDist_4=238;refseq.spliceDist_5=238;refseq.spliceDist_6=238;refseq.spliceDist_7=238;refseq.spliceDist_8=238;refseq.spliceDist_9=238;refseq.start_1=234345884;refseq.start_10=234345884;refseq.start_2=234345884;refseq.start_3=234345884;refseq.start_4=234345884;refseq.start_5=234345884;refseq.start_6=234345884;refseq.start_7=234345884;refseq.start_8=234345884;refseq.start_9=234345884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Stop;refseq.variantAA_10=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantAA_5=Stop;refseq.variantAA_6=Stop;refseq.variantAA_7=Stop;refseq.variantAA_8=Stop;refseq.variantAA_9=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_10=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;refseq.variantCodon_5=TAA;refseq.variantCodon_6=TAA;refseq.variantCodon_7=TAA;refseq.variantCodon_8=TAA;refseq.variantCodon_9=TAA;set=FilteredInAll GT 1/0 chr2 234415281 . G C 179.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=98.89;MQ0=0;OQ=19858.91;QD=47.85;RankSumP=1.00000;SB=-4513.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.884C>G;refseq.codonCoord=295;refseq.end=234415281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_018410;refseq.name2=HJURP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S295C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=310;refseq.start=234415281;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr2 234415570 . T C 256.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=10290.47;QD=37.42;RankSumP=1.00000;SB=-3178.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.595A>G;refseq.codonCoord=199;refseq.end=234415570;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_018410;refseq.name2=HJURP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R199G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=21;refseq.start=234415570;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr2 234417609 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.555A>C;refseq.codonCoord=185;refseq.end=234417609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_018410;refseq.name2=HJURP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S185S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-20;refseq.start=234417609;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr2 234425964 . C T 69.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3330.25;QD=43.82;RankSumP=1.00000;SB=-1560.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.226G>A;refseq.codonCoord=76;refseq.end=234425964;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_018410;refseq.name2=HJURP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E76K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-15;refseq.start=234425964;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr2 234519279 . G C 101.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=563;Dels=0.00;HRun=0;HaplotypeScore=10.58;MQ=98.80;MQ0=0;OQ=12221.26;QD=21.71;RankSumP=0.193320;SB=-4966.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.740G>C;refseq.codonCoord=247;refseq.end=234519279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=780;refseq.name=NM_024080;refseq.name2=TRPM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R247T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=41;refseq.start=234519279;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr2 234519291 . A G 106.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=4.64;MQ=98.84;MQ0=0;OQ=11051.50;QD=18.48;RankSumP=0.399576;SB=-4336.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.752A>G;refseq.codonCoord=251;refseq.end=234519291;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_024080;refseq.name2=TRPM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y251C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=53;refseq.start=234519291;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr2 234528527 . G A 240.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=98.57;MQ0=0;OQ=5489.20;QD=19.40;RankSumP=0.254546;SB=-1831.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1256G>A;refseq.codonCoord=419;refseq.end=234528527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_024080;refseq.name2=TRPM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S419N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=13;refseq.start=234528527;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr2 234569817 . C T 133.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=11.92;MQ=98.86;MQ0=0;OQ=5931.49;QD=19.01;RankSumP=0.452879;SB=-1587.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3048C>T;refseq.codonCoord=1016;refseq.end=234569817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3088;refseq.name=NM_024080;refseq.name2=TRPM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1016I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-83;refseq.start=234569817;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr2 234632278 . T A 194.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=98.95;MQ0=0;OQ=6103.73;QD=22.52;RankSumP=0.389780;SB=-2268.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.270T>A;refseq.codonCoord=90;refseq.end=234632278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_006944;refseq.name2=SPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T90T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=60;refseq.start=234632278;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr2 235069665 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.305A>G;refseq.codonCoord=102;refseq.end=235069665;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_005737;refseq.name2=ARL4C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E102G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=768;refseq.start=235069665;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 235614926 . T C 244.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=9.53;MQ=98.24;MQ0=0;OQ=8259.28;QD=35.45;RankSumP=1.00000;SB=-2983.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.774T>C;refseq.codonCoord=258;refseq.end=235614926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1167;refseq.name=NM_014521;refseq.name2=SH3BP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D258D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=656;refseq.start=235614926;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr2 235616558 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=15.95;MQ=98.62;MQ0=0;OQ=5438.92;QD=19.56;RankSumP=0.222882;SB=-1843.47;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2406A>G;refseq.codonCoord=802;refseq.end=235616558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2799;refseq.name=NM_014521;refseq.name2=SH3BP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L802L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-73;refseq.start=235616558;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr2 236372905 . C T 339.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=98.54;MQ0=0;OQ=6364.47;QD=20.20;RankSumP=0.290735;SB=-1883.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.957C>T;refseq.codingCoordStr_2=c.957C>T;refseq.codonCoord_1=319;refseq.codonCoord_2=319;refseq.end_1=236372905;refseq.end_2=236372905;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1552;refseq.mrnaCoord_2=1552;refseq.name2_1=AGAP1;refseq.name2_2=AGAP1;refseq.name_1=NM_001037131;refseq.name_2=NM_014914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T319T;refseq.proteinCoordStr_2=p.T319T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=236372905;refseq.start_2=236372905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr2 237908031 . G A 285.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=98.85;MQ0=0;OQ=2937.25;QD=17.38;RankSumP=0.00385088;SB=-904.90;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.9206C>T;refseq.codingCoordStr_2=c.7385C>T;refseq.codingCoordStr_3=c.8588C>T;refseq.codonCoord_1=3069;refseq.codonCoord_2=2462;refseq.codonCoord_3=2863;refseq.end_1=237908031;refseq.end_2=237908031;refseq.end_3=237908031;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9491;refseq.mrnaCoord_2=7670;refseq.mrnaCoord_3=8873;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T3069I;refseq.proteinCoordStr_2=p.T2462I;refseq.proteinCoordStr_3=p.T2863I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=237908031;refseq.start_2=237908031;refseq.start_3=237908031;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=filterInsoap-gatk GT 1/0 chr2 237908203 . C G 108.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=4983.34;QD=47.92;RankSumP=1.00000;SB=-2288.53;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.9034G>C;refseq.codingCoordStr_2=c.7213G>C;refseq.codingCoordStr_3=c.8416G>C;refseq.codonCoord_1=3012;refseq.codonCoord_2=2405;refseq.codonCoord_3=2806;refseq.end_1=237908203;refseq.end_2=237908203;refseq.end_3=237908203;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9319;refseq.mrnaCoord_2=7498;refseq.mrnaCoord_3=8701;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A3012P;refseq.proteinCoordStr_2=p.A2405P;refseq.proteinCoordStr_3=p.A2806P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=237908203;refseq.start_2=237908203;refseq.start_3=237908203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr2 237909520 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=97.46;MQ0=0;OQ=2114.34;QD=9.93;RankSumP=0.371755;SB=-1067.63;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.8962A>G;refseq.codingCoordStr_2=c.7141A>G;refseq.codingCoordStr_3=c.8344A>G;refseq.codonCoord_1=2988;refseq.codonCoord_2=2381;refseq.codonCoord_3=2782;refseq.end_1=237909520;refseq.end_2=237909520;refseq.end_3=237909520;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9247;refseq.mrnaCoord_2=7426;refseq.mrnaCoord_3=8629;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M2988V;refseq.proteinCoordStr_2=p.M2381V;refseq.proteinCoordStr_3=p.M2782V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=237909520;refseq.start_2=237909520;refseq.start_3=237909520;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr2 237909662 . C T 11 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=93.05;MQ0=0;OQ=74.20;QD=2.25;RankSumP=0.617149;SB=5.04;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.8820G>A;refseq.codingCoordStr_2=c.6999G>A;refseq.codingCoordStr_3=c.8202G>A;refseq.codonCoord_1=2940;refseq.codonCoord_2=2333;refseq.codonCoord_3=2734;refseq.end_1=237909662;refseq.end_2=237909662;refseq.end_3=237909662;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9105;refseq.mrnaCoord_2=7284;refseq.mrnaCoord_3=8487;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T2940T;refseq.proteinCoordStr_2=p.T2333T;refseq.proteinCoordStr_3=p.T2734T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-146;refseq.spliceDist_2=-146;refseq.spliceDist_3=-146;refseq.start_1=237909662;refseq.start_2=237909662;refseq.start_3=237909662;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=FilteredInAll GT 0/1 chr2 237909702 . A G 181.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=95.53;MQ0=0;OQ=446.39;QD=13.95;RankSumP=1.00000;SB=-184.78;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.8780T>C;refseq.codingCoordStr_2=c.6959T>C;refseq.codingCoordStr_3=c.8162T>C;refseq.codonCoord_1=2927;refseq.codonCoord_2=2320;refseq.codonCoord_3=2721;refseq.end_1=237909702;refseq.end_2=237909702;refseq.end_3=237909702;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9065;refseq.mrnaCoord_2=7244;refseq.mrnaCoord_3=8447;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M2927T;refseq.proteinCoordStr_2=p.M2320T;refseq.proteinCoordStr_3=p.M2721T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-186;refseq.spliceDist_2=-186;refseq.spliceDist_3=-186;refseq.start_1=237909702;refseq.start_2=237909702;refseq.start_3=237909702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr2 237913847 . T C 105.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.67;MQ0=0;OQ=3063.71;QD=13.56;RankSumP=0.318679;SB=-847.25;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.8451A>G;refseq.codingCoordStr_2=c.6630A>G;refseq.codingCoordStr_3=c.7833A>G;refseq.codonCoord_1=2817;refseq.codonCoord_2=2210;refseq.codonCoord_3=2611;refseq.end_1=237913847;refseq.end_2=237913847;refseq.end_3=237913847;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8736;refseq.mrnaCoord_2=6915;refseq.mrnaCoord_3=8118;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P2817P;refseq.proteinCoordStr_2=p.P2210P;refseq.proteinCoordStr_3=p.P2611P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=237913847;refseq.start_2=237913847;refseq.start_3=237913847;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr2 237914369 . C T 293.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.02;MQ0=0;OQ=2616.79;QD=18.30;RankSumP=0.328837;SB=-1111.53;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.7929G>A;refseq.codingCoordStr_2=c.6108G>A;refseq.codingCoordStr_3=c.7311G>A;refseq.codonCoord_1=2643;refseq.codonCoord_2=2036;refseq.codonCoord_3=2437;refseq.end_1=237914369;refseq.end_2=237914369;refseq.end_3=237914369;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8214;refseq.mrnaCoord_2=6393;refseq.mrnaCoord_3=7596;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A2643A;refseq.proteinCoordStr_2=p.A2036A;refseq.proteinCoordStr_3=p.A2437A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=164;refseq.spliceDist_2=164;refseq.spliceDist_3=164;refseq.start_1=237914369;refseq.start_2=237914369;refseq.start_3=237914369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr2 237914456 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=45.28;MQ=97.68;MQ0=0;OQ=2657.48;QD=14.60;RankSumP=0.302264;SB=-675.80;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.7842C>T;refseq.codingCoordStr_2=c.6021C>T;refseq.codingCoordStr_3=c.7224C>T;refseq.codonCoord_1=2614;refseq.codonCoord_2=2007;refseq.codonCoord_3=2408;refseq.end_1=237914456;refseq.end_2=237914456;refseq.end_3=237914456;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8127;refseq.mrnaCoord_2=6306;refseq.mrnaCoord_3=7509;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S2614S;refseq.proteinCoordStr_2=p.S2007S;refseq.proteinCoordStr_3=p.S2408S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.start_1=237914456;refseq.start_2=237914456;refseq.start_3=237914456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr2 237914458 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.7840A>G;refseq.codingCoordStr_2=c.6019A>G;refseq.codingCoordStr_3=c.7222A>G;refseq.codonCoord_1=2614;refseq.codonCoord_2=2007;refseq.codonCoord_3=2408;refseq.end_1=237914458;refseq.end_2=237914458;refseq.end_3=237914458;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8125;refseq.mrnaCoord_2=6304;refseq.mrnaCoord_3=7507;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S2614G;refseq.proteinCoordStr_2=p.S2007G;refseq.proteinCoordStr_3=p.S2408G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.spliceDist_3=75;refseq.start_1=237914458;refseq.start_2=237914458;refseq.start_3=237914458;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr2 237917862 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.7538T>G;refseq.codingCoordStr_2=c.5717T>G;refseq.codingCoordStr_3=c.6920T>G;refseq.codonCoord_1=2513;refseq.codonCoord_2=1906;refseq.codonCoord_3=2307;refseq.end_1=237917862;refseq.end_2=237917862;refseq.end_3=237917862;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7823;refseq.mrnaCoord_2=6002;refseq.mrnaCoord_3=7205;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V2513G;refseq.proteinCoordStr_2=p.V1906G;refseq.proteinCoordStr_3=p.V2307G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-131;refseq.spliceDist_2=-131;refseq.spliceDist_3=-131;refseq.start_1=237917862;refseq.start_2=237917862;refseq.start_3=237917862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 0/1 chr2 237917891 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=5.89;MQ=97.83;MQ0=0;OQ=1847.07;QD=17.93;RankSumP=0.447613;SB=-873.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.7509G>A;refseq.codingCoordStr_2=c.5688G>A;refseq.codingCoordStr_3=c.6891G>A;refseq.codonCoord_1=2503;refseq.codonCoord_2=1896;refseq.codonCoord_3=2297;refseq.end_1=237917891;refseq.end_2=237917891;refseq.end_3=237917891;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7794;refseq.mrnaCoord_2=5973;refseq.mrnaCoord_3=7176;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R2503R;refseq.proteinCoordStr_2=p.R1896R;refseq.proteinCoordStr_3=p.R2297R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-160;refseq.spliceDist_2=-160;refseq.spliceDist_3=-160;refseq.start_1=237917891;refseq.start_2=237917891;refseq.start_3=237917891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr2 237923553 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=836.94;QD=25.36;RankSumP=0.577951;SB=-269.41;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.6855G>C;refseq.codingCoordStr_2=c.5034G>C;refseq.codingCoordStr_3=c.6237G>C;refseq.codonCoord_1=2285;refseq.codonCoord_2=1678;refseq.codonCoord_3=2079;refseq.end_1=237923553;refseq.end_2=237923553;refseq.end_3=237923553;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7140;refseq.mrnaCoord_2=5319;refseq.mrnaCoord_3=6522;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G2285G;refseq.proteinCoordStr_2=p.G1678G;refseq.proteinCoordStr_3=p.G2079G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=237923553;refseq.start_2=237923553;refseq.start_3=237923553;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/0 chr2 237941996 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4849G>C;refseq.codingCoordStr_2=c.3028G>C;refseq.codingCoordStr_3=c.4231G>C;refseq.codonCoord_1=1617;refseq.codonCoord_2=1010;refseq.codonCoord_3=1411;refseq.end_1=237941996;refseq.end_2=237941996;refseq.end_3=237941996;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5134;refseq.mrnaCoord_2=3313;refseq.mrnaCoord_3=4516;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1617P;refseq.proteinCoordStr_2=p.A1010P;refseq.proteinCoordStr_3=p.A1411P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=237941996;refseq.start_2=237941996;refseq.start_3=237941996;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr2 237942312 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=152;Dels=0.01;HRun=1;HaplotypeScore=11.55;MQ=98.87;MQ0=0;OQ=1965.48;QD=12.93;RankSumP=0.259841;SB=-949.26;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4533G>T;refseq.codingCoordStr_2=c.2712G>T;refseq.codingCoordStr_3=c.3915G>T;refseq.codonCoord_1=1511;refseq.codonCoord_2=904;refseq.codonCoord_3=1305;refseq.end_1=237942312;refseq.end_2=237942312;refseq.end_3=237942312;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4818;refseq.mrnaCoord_2=2997;refseq.mrnaCoord_3=4200;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1511G;refseq.proteinCoordStr_2=p.G904G;refseq.proteinCoordStr_3=p.G1305G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=248;refseq.spliceDist_2=248;refseq.spliceDist_3=248;refseq.start_1=237942312;refseq.start_2=237942312;refseq.start_3=237942312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr2 237942534 . A G 280.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.72;MQ0=0;OQ=2473.72;QD=18.32;RankSumP=0.291319;SB=-924.23;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.codingCoordStr_1=c.4311T>C;refseq.codingCoordStr_2=c.2490T>C;refseq.codingCoordStr_3=c.3693T>C;refseq.codonCoord_1=1437;refseq.codonCoord_2=830;refseq.codonCoord_3=1231;refseq.end_1=237942534;refseq.end_2=237942534;refseq.end_3=237942534;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4596;refseq.mrnaCoord_2=2775;refseq.mrnaCoord_3=3978;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057166;refseq.name_3=NM_057167;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I1437I;refseq.proteinCoordStr_2=p.I830I;refseq.proteinCoordStr_3=p.I1231I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=237942534;refseq.start_2=237942534;refseq.start_3=237942534;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr2 237948344 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=274;Dels=0.00;HRun=2;HaplotypeScore=13.36;MQ=98.54;MQ0=0;OQ=5123.98;QD=18.70;RankSumP=0.448804;SB=-2005.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.3129C>T;refseq.codingCoordStr_2=c.1908C>T;refseq.codingCoordStr_3=c.2511C>T;refseq.codingCoordStr_4=c.1308C>T;refseq.codingCoordStr_5=c.2511C>T;refseq.codonCoord_1=1043;refseq.codonCoord_2=636;refseq.codonCoord_3=837;refseq.codonCoord_4=436;refseq.codonCoord_5=837;refseq.end_1=237948344;refseq.end_2=237948344;refseq.end_3=237948344;refseq.end_4=237948344;refseq.end_5=237948344;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3414;refseq.mrnaCoord_2=2193;refseq.mrnaCoord_3=2796;refseq.mrnaCoord_4=1593;refseq.mrnaCoord_5=2796;refseq.name2_1=COL6A3;refseq.name2_2=COL6A3;refseq.name2_3=COL6A3;refseq.name2_4=COL6A3;refseq.name2_5=COL6A3;refseq.name_1=NM_004369;refseq.name_2=NM_057164;refseq.name_3=NM_057165;refseq.name_4=NM_057166;refseq.name_5=NM_057167;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G1043G;refseq.proteinCoordStr_2=p.G636G;refseq.proteinCoordStr_3=p.G837G;refseq.proteinCoordStr_4=p.G436G;refseq.proteinCoordStr_5=p.G837G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.spliceDist_4=59;refseq.spliceDist_5=59;refseq.start_1=237948344;refseq.start_2=237948344;refseq.start_3=237948344;refseq.start_4=237948344;refseq.start_5=237948344;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=Intersection GT 1/0 chr2 238120012 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1480A>G;refseq.codingCoordStr_2=c.1564A>G;refseq.codonCoord_1=494;refseq.codonCoord_2=522;refseq.end_1=238120012;refseq.end_2=238120012;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1707;refseq.mrnaCoord_2=1791;refseq.name2_1=MLPH;refseq.name2_2=MLPH;refseq.name_1=NM_001042467;refseq.name_2=NM_024101;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K494E;refseq.proteinCoordStr_2=p.K522E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=238120012;refseq.start_2=238120012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr2 238333541 . A G 435.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.34;MQ0=0;OQ=7184.86;QD=39.26;RankSumP=1.00000;SB=-1528.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1413A>G;refseq.codingCoordStr_2=c.675A>G;refseq.codingCoordStr_3=c.843A>G;refseq.codingCoordStr_4=c.675A>G;refseq.codingCoordStr_5=c.771A>G;refseq.codonCoord_1=471;refseq.codonCoord_2=225;refseq.codonCoord_3=281;refseq.codonCoord_4=225;refseq.codonCoord_5=257;refseq.end_1=238333541;refseq.end_2=238333541;refseq.end_3=238333541;refseq.end_4=238333541;refseq.end_5=238333541;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1477;refseq.mrnaCoord_2=967;refseq.mrnaCoord_3=1135;refseq.mrnaCoord_4=967;refseq.mrnaCoord_5=1063;refseq.name2_1=LRRFIP1;refseq.name2_2=LRRFIP1;refseq.name2_3=LRRFIP1;refseq.name2_4=LRRFIP1;refseq.name2_5=LRRFIP1;refseq.name_1=NM_001137550;refseq.name_2=NM_001137551;refseq.name_3=NM_001137552;refseq.name_4=NM_001137553;refseq.name_5=NM_004735;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T471T;refseq.proteinCoordStr_2=p.T225T;refseq.proteinCoordStr_3=p.T281T;refseq.proteinCoordStr_4=p.T225T;refseq.proteinCoordStr_5=p.T257T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.spliceDist_5=-47;refseq.start_1=238333541;refseq.start_2=238333541;refseq.start_3=238333541;refseq.start_4=238333541;refseq.start_5=238333541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/1 chr2 238336067 . A G 245.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=63.68;MQ0=34;OQ=9017.02;QD=35.09;RankSumP=1.00000;SB=-4255.01;SecondBestBaseQ=34;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_3=c.972A>G;refseq.codingCoordStr_4=c.804A>G;refseq.codingCoordStr_5=c.900A>G;refseq.codonCoord_3=324;refseq.codonCoord_4=268;refseq.codonCoord_5=300;refseq.end_1=238343314;refseq.end_2=238343314;refseq.end_3=238336067;refseq.end_4=238336067;refseq.end_5=238336067;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=1264;refseq.mrnaCoord_4=1096;refseq.mrnaCoord_5=1192;refseq.name2_1=LRRFIP1;refseq.name2_2=LRRFIP1;refseq.name2_3=LRRFIP1;refseq.name2_4=LRRFIP1;refseq.name2_5=LRRFIP1;refseq.name_1=NM_001137550;refseq.name_2=NM_001137551;refseq.name_3=NM_001137552;refseq.name_4=NM_001137553;refseq.name_5=NM_004735;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.E324E;refseq.proteinCoordStr_4=p.E268E;refseq.proteinCoordStr_5=p.E300E;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.spliceDist_3=83;refseq.spliceDist_4=83;refseq.spliceDist_5=83;refseq.start_1=238333598;refseq.start_2=238333598;refseq.start_3=238336067;refseq.start_4=238336067;refseq.start_5=238336067;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;refseq.variantCodon_5=GAG;set=Intersection GT 1/1 chr2 238337442 . C G 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=3;HaplotypeScore=3.99;MQ=94.62;MQ0=1;OQ=6357.49;QD=46.41;RankSumP=1.00000;SB=-2229.62;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_3=c.2347C>G;refseq.codingCoordStr_4=c.2179C>G;refseq.codingCoordStr_5=c.2275C>G;refseq.codonCoord_3=783;refseq.codonCoord_4=727;refseq.codonCoord_5=759;refseq.end_1=238343314;refseq.end_2=238343314;refseq.end_3=238337442;refseq.end_4=238337442;refseq.end_5=238337442;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=2639;refseq.mrnaCoord_4=2471;refseq.mrnaCoord_5=2567;refseq.name2_1=LRRFIP1;refseq.name2_2=LRRFIP1;refseq.name2_3=LRRFIP1;refseq.name2_4=LRRFIP1;refseq.name2_5=LRRFIP1;refseq.name_1=NM_001137550;refseq.name_2=NM_001137551;refseq.name_3=NM_001137552;refseq.name_4=NM_001137553;refseq.name_5=NM_004735;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.H783D;refseq.proteinCoordStr_4=p.H727D;refseq.proteinCoordStr_5=p.H759D;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.referenceCodon_5=CAC;refseq.spliceDist_3=1458;refseq.spliceDist_4=1458;refseq.spliceDist_5=1458;refseq.start_1=238333598;refseq.start_2=238333598;refseq.start_3=238337442;refseq.start_4=238337442;refseq.start_5=238337442;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 1/1 chr2 238568138 . G A 267.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.88;MQ0=0;OQ=5113.18;QD=18.59;RankSumP=0.232057;SB=-1865.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.162G>A;refseq.codonCoord=54;refseq.end=238568138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_080678;refseq.name2=UBE2F;refseq.positionType=CDS;refseq.proteinCoordStr=p.V54V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=14;refseq.start=238568138;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr2 238674075 . G A 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=99.00;MQ0=0;OQ=75.89;QD=10.84;RankSumP=0.428571;SB=-46.65;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.276G>A;refseq.codonCoord=92;refseq.end=238674075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E92E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-19;refseq.start=238674075;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr2 238675458 . T C 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=86.59;MQ0=0;OQ=194.50;QD=12.16;RankSumP=0.548308;SB=-43.66;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=238675458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A144A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-54;refseq.start=238675458;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr2 238681278 . C G 243.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.60;MQ0=0;OQ=1264.69;QD=16.64;RankSumP=0.177354;SB=-564.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.780C>G;refseq.codonCoord=260;refseq.end=238681278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L260L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-76;refseq.start=238681278;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr2 238690369 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=98.56;MQ0=0;OQ=418.28;QD=6.64;RankSumP=0.448359;SB=-162.87;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.942T>C;refseq.codonCoord=314;refseq.end=238690369;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H314H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-46;refseq.start=238690369;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr2 238690384 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=97.71;MQ0=0;OQ=349.97;QD=5.93;RankSumP=0.719370;SB=-106.07;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.957C>T;refseq.codonCoord=319;refseq.end=238690384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1067;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C319C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-31;refseq.start=238690384;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr2 238701009 . C T 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=97.33;MQ0=0;OQ=309.09;QD=5.83;RankSumP=0.673202;SB=-63.27;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.1110C>T;refseq.codonCoord=370;refseq.end=238701009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1220;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S370S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=238701009;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr2 238703796 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.79;MQ0=0;OQ=497.01;QD=13.43;RankSumP=0.316957;SB=-256.30;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1702A>G;refseq.codonCoord=568;refseq.end=238703796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I568V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=289;refseq.start=238703796;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr2 238703814 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.04;MQ0=0;OQ=432.26;QD=13.94;RankSumP=0.592456;SB=-226.56;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1720G>T;refseq.codonCoord=574;refseq.end=238703814;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1830;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A574S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=307;refseq.start=238703814;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr2 238704376 . T C 29.05 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.59;MQ0=0;QD=7.26;RankSumP=0.333333;SB=-6.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2282T>C;refseq.codonCoord=761;refseq.end=238704376;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2392;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V761A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=869;refseq.start=238704376;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr2 238704635 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=93.07;MQ0=0;OQ=230.61;QD=10.48;RankSumP=0.722090;SB=-114.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2541G>C;refseq.codonCoord=847;refseq.end=238704635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2651;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P847P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1128;refseq.start=238704635;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr2 238704926 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.80;MQ0=0;OQ=1406.99;QD=32.72;RankSumP=1.00000;SB=-671.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2832T>C;refseq.codonCoord=944;refseq.end=238704926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2942;refseq.name=NM_194312;refseq.name2=ESPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G944G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1419;refseq.start=238704926;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr2 238819792 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=4.37;MQ=97.95;MQ0=0;OQ=628.14;QD=12.08;RankSumP=0.643137;SB=-293.13;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3731G>A;refseq.codonCoord=1244;refseq.end=238819792;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3968;refseq.name=NM_022817;refseq.name2=PER2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1244E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=113;refseq.start=238819792;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr2 238830368 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.1999A>C;refseq.codonCoord=667;refseq.end=238830368;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2236;refseq.name=NM_022817;refseq.name2=PER2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T667P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-67;refseq.start=238830368;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr2 239009151 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=20.41;MQ=97.84;MQ0=0;OQ=2192.92;QD=11.30;RankSumP=0.0874631;SB=-865.85;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=239009151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_001040445;refseq.name2=ASB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I84I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=61;refseq.start=239009151;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr2 239668807 . G A 270.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=10.54;MQ=98.82;MQ0=0;OQ=2984.37;QD=15.46;RankSumP=0.0424739;SB=-1331.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2565C>T;refseq.codonCoord=855;refseq.end=239668807;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3357;refseq.name=NM_006037;refseq.name2=HDAC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P855P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=48;refseq.start=239668807;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr2 239726337 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.93;MQ0=0;OQ=847.00;QD=19.70;RankSumP=0.468648;SB=-304.20;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.958G>A;refseq.codonCoord=320;refseq.end=239726337;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1750;refseq.name=NM_006037;refseq.name2=HDAC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V320I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-21;refseq.start=239726337;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr2 240595439 . T C 176.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.76;MQ0=0;OQ=1465.73;QD=16.85;RankSumP=0.430441;SB=-612.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.771A>G;refseq.codonCoord=257;refseq.end=240595439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_004544;refseq.name2=NDUFA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q257Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=22;refseq.start=240595439;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr2 240610401 . T C 318.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.90;MQ0=0;OQ=12698.16;QD=42.33;RankSumP=1.00000;SB=-4528.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.105A>G;refseq.codonCoord=35;refseq.end=240610401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_004544;refseq.name2=NDUFA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K35K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=30;refseq.start=240610401;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr2 240630221 . G C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.700000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.852C>G;refseq.codonCoord=284;refseq.end=240630221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_001080835;refseq.name2=PRR21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S284S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-319;refseq.start=240630221;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 0/1 chr2 240630313 . C G 13.29 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1007;Dels=0.00;HRun=1;HaplotypeScore=82.68;MQ=2.29;MQ0=990;QD=0.01;SB=-10.00;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.760G>C;refseq.codonCoord=254;refseq.end=240630313;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_001080835;refseq.name2=PRR21;refseq.positionType=CDS;refseq.proteinCoordStr=p.G254R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-411;refseq.start=240630313;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:981,20:1:-4.59,-0.30,-0.00:1.76 chr2 241112268 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=7.96;MQ=98.38;MQ0=0;OQ=1909.90;QD=10.49;RankSumP=0.260575;SB=-802.01;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.1272A>G;refseq.codingCoordStr_2=c.849A>G;refseq.codonCoord_1=424;refseq.codonCoord_2=283;refseq.end_1=241112268;refseq.end_2=241112268;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1501;refseq.mrnaCoord_2=974;refseq.name2_1=ANKMY1;refseq.name2_2=ANKMY1;refseq.name_1=NM_016552;refseq.name_2=NM_017844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I424M;refseq.proteinCoordStr_2=p.I283M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=204;refseq.spliceDist_2=204;refseq.start_1=241112268;refseq.start_2=241112268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr2 241113934 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=626;Dels=0.00;HRun=1;HaplotypeScore=14.79;MQ=98.67;MQ0=0;OQ=12570.22;QD=20.08;RankSumP=0.463376;SB=-4520.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.909C>T;refseq.codingCoordStr_2=c.486C>T;refseq.codonCoord_1=303;refseq.codonCoord_2=162;refseq.end_1=241113934;refseq.end_2=241113934;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1138;refseq.mrnaCoord_2=611;refseq.name2_1=ANKMY1;refseq.name2_2=ANKMY1;refseq.name_1=NM_016552;refseq.name_2=NM_017844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H303H;refseq.proteinCoordStr_2=p.H162H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=241113934;refseq.start_2=241113934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr2 241117278 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=258;Dels=0.00;HRun=1;HaplotypeScore=9.21;MQ=98.77;MQ0=0;OQ=4537.83;QD=17.59;RankSumP=0.472679;SB=-1222.27;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_2=c.535C>A;refseq.codonCoord_2=179;refseq.end_1=241140993;refseq.end_2=241117278;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=764;refseq.name2_1=ANKMY1;refseq.name2_2=ANKMY1;refseq.name_1=NM_017844;refseq.name_2=NM_016552;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H179N;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-152;refseq.start_1=241113950;refseq.start_2=241117278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr2 241143032 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.-8A>G;refseq.codingCoordStr_2=c.260A>G;refseq.codonCoord_2=87;refseq.end_1=241143032;refseq.end_2=241143032;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=222;refseq.mrnaCoord_2=385;refseq.name2_1=ANKMY1;refseq.name2_2=ANKMY1;refseq.name_1=NM_016552;refseq.name_2=NM_017844;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D87G;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=241143032;refseq.start_2=241143032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.uorfChange_1=-1;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr2 241164767 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=96.21;MQ0=0;OQ=629.21;QD=16.56;RankSumP=0.450147;SB=-195.22;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.960G>C;refseq.codonCoord=320;refseq.end=241164767;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1553;refseq.name=NM_018226;refseq.name2=RNPEPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S320S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-89;refseq.start=241164767;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr2 241180152 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=3.68;MQ=98.87;MQ0=0;OQ=864.16;QD=16.62;RankSumP=0.0552769;SB=-199.67;SecondBestBaseQ=23;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_3=c.600A>G;refseq.codingCoordStr_4=c.600A>G;refseq.codonCoord_3=200;refseq.codonCoord_4=200;refseq.end_1=241185967;refseq.end_2=241204467;refseq.end_3=241180152;refseq.end_4=241180152;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=784;refseq.mrnaCoord_4=784;refseq.name2_1=CAPN10;refseq.name2_2=CAPN10;refseq.name2_3=CAPN10;refseq.name2_4=CAPN10;refseq.name_1=NM_021251;refseq.name_2=NM_023089;refseq.name_3=NM_023083;refseq.name_4=NM_023085;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P200P;refseq.proteinCoordStr_4=p.P200P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_3=-89;refseq.spliceDist_4=-89;refseq.start_1=241175153;refseq.start_2=241177575;refseq.start_3=241180152;refseq.start_4=241180152;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 0/1 chr2 241184799 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.20;MQ=96.83;MQ0=0;OQ=492.11;QD=10.25;RankSumP=0.0283784;SB=-225.67;SecondBestBaseQ=23;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.1510A>G;refseq.codonCoord_4=504;refseq.end_1=241185967;refseq.end_2=241204467;refseq.end_3=241185967;refseq.end_4=241184799;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1694;refseq.name2_1=CAPN10;refseq.name2_2=CAPN10;refseq.name2_3=CAPN10;refseq.name2_4=CAPN10;refseq.name_1=NM_021251;refseq.name_2=NM_023089;refseq.name_3=NM_023085;refseq.name_4=NM_023083;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.T504A;refseq.referenceAA_4=Thr;refseq.referenceCodon_4=ACC;refseq.spliceDist_4=29;refseq.start_1=241175153;refseq.start_2=241177575;refseq.start_3=241183405;refseq.start_4=241184799;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ala;refseq.variantCodon_4=GCC;set=Intersection GT 0/1 chr2 241186094 . G A 259.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.60;MQ0=0;OQ=4306.49;QD=21.64;RankSumP=0.212155;SB=-1160.63;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.258G>A;refseq.codingCoordStr_3=c.1860G>A;refseq.codingCoordStr_4=c.1395G>A;refseq.codonCoord_2=86;refseq.codonCoord_3=620;refseq.codonCoord_4=465;refseq.end_1=241204467;refseq.end_2=241186094;refseq.end_3=241186094;refseq.end_4=241186094;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=442;refseq.mrnaCoord_3=2044;refseq.mrnaCoord_4=1579;refseq.name2_1=CAPN10;refseq.name2_2=CAPN10;refseq.name2_3=CAPN10;refseq.name2_4=CAPN10;refseq.name_1=NM_023089;refseq.name_2=NM_021251;refseq.name_3=NM_023083;refseq.name_4=NM_023085;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A86A;refseq.proteinCoordStr_3=p.A620A;refseq.proteinCoordStr_4=p.A465A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_2=-84;refseq.spliceDist_3=-84;refseq.spliceDist_4=-84;refseq.start_1=241177575;refseq.start_2=241186094;refseq.start_3=241186094;refseq.start_4=241186094;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr2 241186747 . A G 299.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=506.64;QD=36.19;RankSumP=1.00000;SB=-266.71;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_2=c.394A>G;refseq.codingCoordStr_3=c.1996A>G;refseq.codingCoordStr_4=c.1531A>G;refseq.codonCoord_2=132;refseq.codonCoord_3=666;refseq.codonCoord_4=511;refseq.end_1=241204467;refseq.end_2=241186747;refseq.end_3=241186747;refseq.end_4=241186747;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=578;refseq.mrnaCoord_3=2180;refseq.mrnaCoord_4=1715;refseq.name2_1=CAPN10;refseq.name2_2=CAPN10;refseq.name2_3=CAPN10;refseq.name2_4=CAPN10;refseq.name_1=NM_023089;refseq.name_2=NM_021251;refseq.name_3=NM_023083;refseq.name_4=NM_023085;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I132V;refseq.proteinCoordStr_3=p.I666V;refseq.proteinCoordStr_4=p.I511V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.start_1=241177575;refseq.start_2=241186747;refseq.start_3=241186747;refseq.start_4=241186747;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 1/1 chr2 241218522 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=16.28;MQ=98.16;MQ0=0;OQ=684.41;QD=7.78;RankSumP=0.0517994;SB=-168.16;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.480C>T;refseq.codonCoord=160;refseq.end=241218522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1055;refseq.name=NM_005301;refseq.name2=GPR35;refseq.positionType=CDS;refseq.proteinCoordStr=p.G160G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-821;refseq.start=241218522;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr2 241218765 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=9.80;MQ=98.90;MQ0=0;OQ=5424.02;QD=22.79;RankSumP=0.143113;SB=-1189.85;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=241218765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1298;refseq.name=NM_005301;refseq.name2=GPR35;refseq.positionType=CDS;refseq.proteinCoordStr=p.L241L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-578;refseq.start=241218765;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr2 241218800 . C T 214.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=11.30;MQ=98.86;MQ0=0;OQ=7836.29;QD=21.77;RankSumP=0.0952563;SB=-2842.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.758C>T;refseq.codonCoord=253;refseq.end=241218800;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1333;refseq.name=NM_005301;refseq.name2=GPR35;refseq.positionType=CDS;refseq.proteinCoordStr=p.T253M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-543;refseq.start=241218800;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr2 241218922 . A C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=3;HaplotypeScore=3.21;MQ=98.84;MQ0=0;OQ=3955.48;QD=32.69;RankSumP=1.00000;SB=-806.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.880A>C;refseq.codonCoord=294;refseq.end=241218922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1455;refseq.name=NM_005301;refseq.name2=GPR35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S294R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-421;refseq.start=241218922;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr2 241280086 . T G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.71;MQ=48.03;MQ0=8;OQ=1069.98;QD=19.45;RankSumP=1.00000;SB=-34.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.83T>G;refseq.codonCoord=28;refseq.end=241280086;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_198998;refseq.name2=AQP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L28R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-41;refseq.start=241280086;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr2 241476685 . T C 105.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=98.08;MQ0=0;OQ=1886.32;QD=35.59;RankSumP=1.00000;SB=-754.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.948A>G;refseq.codingCoordStr_2=c.444A>G;refseq.codonCoord_1=316;refseq.codonCoord_2=148;refseq.end_1=241476685;refseq.end_2=241476685;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1107;refseq.mrnaCoord_2=540;refseq.name2_1=C2orf54;refseq.name2_2=C2orf54;refseq.name_1=NM_001085437;refseq.name_2=NM_024861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E316E;refseq.proteinCoordStr_2=p.E148E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=241476685;refseq.start_2=241476685;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr2 241476707 . A G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.22;MQ0=0;OQ=1485.80;QD=30.95;RankSumP=1.00000;SB=-385.52;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.926T>C;refseq.codingCoordStr_2=c.422T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=141;refseq.end_1=241476707;refseq.end_2=241476707;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1085;refseq.mrnaCoord_2=518;refseq.name2_1=C2orf54;refseq.name2_2=C2orf54;refseq.name_1=NM_001085437;refseq.name_2=NM_024861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L309P;refseq.proteinCoordStr_2=p.L141P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=241476707;refseq.start_2=241476707;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr2 241479642 . G A 239.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1280.08;QD=40.00;RankSumP=1.00000;SB=-293.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.726C>T;refseq.codingCoordStr_2=c.222C>T;refseq.codonCoord_1=242;refseq.codonCoord_2=74;refseq.end_1=241479642;refseq.end_2=241479642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=318;refseq.name2_1=C2orf54;refseq.name2_2=C2orf54;refseq.name_1=NM_001085437;refseq.name_2=NM_024861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S242S;refseq.proteinCoordStr_2=p.S74S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=241479642;refseq.start_2=241479642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr2 241479678 . C T 158.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1713.56;QD=40.80;RankSumP=1.00000;SB=-451.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.690G>A;refseq.codingCoordStr_2=c.186G>A;refseq.codonCoord_1=230;refseq.codonCoord_2=62;refseq.end_1=241479678;refseq.end_2=241479678;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=849;refseq.mrnaCoord_2=282;refseq.name2_1=C2orf54;refseq.name2_2=C2orf54;refseq.name_1=NM_001085437;refseq.name_2=NM_024861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R230R;refseq.proteinCoordStr_2=p.R62R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=241479678;refseq.start_2=241479678;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr2 241479785 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.583A>G;refseq.codingCoordStr_2=c.79A>G;refseq.codonCoord_1=195;refseq.codonCoord_2=27;refseq.end_1=241479785;refseq.end_2=241479785;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=742;refseq.mrnaCoord_2=175;refseq.name2_1=C2orf54;refseq.name2_2=C2orf54;refseq.name_1=NM_001085437;refseq.name_2=NM_024861;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R195G;refseq.proteinCoordStr_2=p.R27G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=241479785;refseq.start_2=241479785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr2 241483617 . T C 172.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.08;MQ0=0;OQ=1928.41;QD=37.81;RankSumP=1.00000;SB=-678.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.471A>G;refseq.codonCoord=157;refseq.end=241483617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_001085437;refseq.name2=C2orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.V157V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-44;refseq.start=241483617;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr2 241484052 . G A 209.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=902.89;QD=34.73;RankSumP=1.00000;SB=-362.98;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.36C>T;refseq.codonCoord=12;refseq.end=241484052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_001085437;refseq.name2=C2orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.A12A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=195;refseq.start=241484052;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr2 241685470 . A G 287.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.81;MQ0=0;OQ=5476.16;QD=18.63;RankSumP=0.0707954;SB=-2186.29;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.codingCoordStr_4=c.566T>C;refseq.codonCoord_4=189;refseq.end_1=241690330;refseq.end_2=241685470;refseq.end_3=241685470;refseq.end_4=241685470;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=625;refseq.mrnaCoord_3=126;refseq.mrnaCoord_4=625;refseq.name2_1=MTERFD2;refseq.name2_2=MTERFD2;refseq.name2_3=MTERFD2;refseq.name2_4=MTERFD2;refseq.name_1=NR_028051;refseq.name_2=NR_028049;refseq.name_3=NR_028050;refseq.name_4=NM_182501;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.M189T;refseq.referenceAA_4=Met;refseq.referenceCodon_4=ATG;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.start_1=241682531;refseq.start_2=241685470;refseq.start_3=241685470;refseq.start_4=241685470;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr2 241695458 . A C 350.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=98.68;MQ0=0;OQ=5468.68;QD=21.11;RankSumP=0.116048;SB=-2220.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.3797T>G;refseq.codonCoord=1266;refseq.end=241695458;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3889;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1266C;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-18;refseq.start=241695458;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr2 241700450 . G A 302.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=98.95;MQ0=0;OQ=4060.66;QD=20.82;RankSumP=0.435846;SB=-1226.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3411C>T;refseq.codonCoord=1137;refseq.end=241700450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3503;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1137A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=78;refseq.start=241700450;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr2 241710835 . C T 138.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=328;Dels=0.00;HRun=2;HaplotypeScore=8.56;MQ=98.64;MQ0=0;OQ=6294.75;QD=19.19;RankSumP=1.14773e-07;SB=-2262.45;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.3057G>A;refseq.codonCoord=1019;refseq.end=241710835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3149;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1019K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-16;refseq.start=241710835;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 0/1 chr2 241726169 . C T 167.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.63;MQ0=0;OQ=2373.29;QD=14.21;RankSumP=0.401562;SB=-844.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.748G>A;refseq.codonCoord=250;refseq.end=241726169;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V250I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=241726169;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr2 241726815 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.668A>G;refseq.codonCoord=223;refseq.end=241726815;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.E223G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=68;refseq.start=241726815;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 241730935 . T C 182.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=98.96;MQ0=0;OQ=3910.55;QD=21.37;RankSumP=0.197687;SB=-1137.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.186A>G;refseq.codonCoord=62;refseq.end=241730935;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_015148;refseq.name2=PASK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T62T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-11;refseq.start=241730935;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr2 241790392 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=9.75;MQ=98.35;MQ0=0;OQ=3126.69;QD=12.21;RankSumP=0.495418;SB=-565.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.885C>T;refseq.codonCoord=295;refseq.end=241790392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_001001891;refseq.name2=ANO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D295D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=241790392;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr2 241805914 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.86;MQ0=0;OQ=841.97;QD=13.36;RankSumP=0.504542;SB=-312.25;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2275G>A;refseq.codonCoord=759;refseq.end=241805914;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2378;refseq.name=NM_001001891;refseq.name2=ANO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A759T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-66;refseq.start=241805914;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr2 241827865 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.2435A>C;refseq.codingCoordStr_2=c.2435A>C;refseq.codonCoord_1=812;refseq.codonCoord_2=812;refseq.end_1=241827865;refseq.end_2=241827865;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2807;refseq.mrnaCoord_2=2663;refseq.name2_1=HDLBP;refseq.name2_2=HDLBP;refseq.name_1=NM_005336;refseq.name_2=NM_203346;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H812P;refseq.proteinCoordStr_2=p.H812P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=241827865;refseq.start_2=241827865;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr2 241852589 . A C 170.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=7.17;MQ=98.81;MQ0=0;OQ=6363.10;QD=35.55;RankSumP=1.00000;SB=-2953.39;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.codingCoordStr_1=c.181T>G;refseq.codingCoordStr_2=c.181T>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=241852589;refseq.end_2=241852589;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=553;refseq.mrnaCoord_2=409;refseq.name2_1=HDLBP;refseq.name2_2=HDLBP;refseq.name_1=NM_005336;refseq.name_2=NM_203346;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S61A;refseq.proteinCoordStr_2=p.S61A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=241852589;refseq.start_2=241852589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr2 242072372 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.2374A>C;refseq.codonCoord=792;refseq.end=242072372;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2491;refseq.name=NM_014808;refseq.name2=FARP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T792P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=43;refseq.start=242072372;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr2 242079218 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=1.22907e-06;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.2574T>G;refseq.codonCoord=858;refseq.end=242079218;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2691;refseq.name=NM_014808;refseq.name2=FARP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G858G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-50;refseq.start=242079218;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 242160443 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.572T>G;refseq.codonCoord=191;refseq.end=242160443;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_032515;refseq.name2=BOK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V191G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=59;refseq.start=242160443;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr2 242221884 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0137572;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.361A>G;refseq.codonCoord=121;refseq.end=242221884;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=654;refseq.name=NM_015963;refseq.name2=THAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S121G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=284;refseq.start=242221884;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/0 chr2 242406084 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=96.20;MQ0=0;OQ=385.07;QD=7.00;RankSumP=0.365888;SB=8.05;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.531C>T;refseq.codingCoordStr_2=c.492C>T;refseq.codingCoordStr_3=c.492C>T;refseq.codingCoordStr_4=c.492C>T;refseq.codingCoordStr_5=c.528C>T;refseq.codonCoord_1=177;refseq.codonCoord_2=164;refseq.codonCoord_3=164;refseq.codonCoord_4=164;refseq.codonCoord_5=176;refseq.end_1=242406084;refseq.end_2=242406084;refseq.end_3=242406084;refseq.end_4=242406084;refseq.end_5=242406084;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1025;refseq.mrnaCoord_2=705;refseq.mrnaCoord_3=708;refseq.mrnaCoord_4=1203;refseq.mrnaCoord_5=1022;refseq.name2_1=NEU4;refseq.name2_2=NEU4;refseq.name2_3=NEU4;refseq.name2_4=NEU4;refseq.name2_5=NEU4;refseq.name_1=NM_001167599;refseq.name_2=NM_001167600;refseq.name_3=NM_001167601;refseq.name_4=NM_001167602;refseq.name_5=NM_080741;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G177G;refseq.proteinCoordStr_2=p.G164G;refseq.proteinCoordStr_3=p.G164G;refseq.proteinCoordStr_4=p.G164G;refseq.proteinCoordStr_5=p.G176G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.spliceDist_5=35;refseq.start_1=242406084;refseq.start_2=242406084;refseq.start_3=242406084;refseq.start_4=242406084;refseq.start_5=242406084;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=Intersection GT 0/1 chr2 242406270 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=98.77;MQ0=0;OQ=519.28;QD=14.03;RankSumP=0.443462;SB=-164.22;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.717G>A;refseq.codingCoordStr_2=c.678G>A;refseq.codingCoordStr_3=c.678G>A;refseq.codingCoordStr_4=c.678G>A;refseq.codingCoordStr_5=c.714G>A;refseq.codonCoord_1=239;refseq.codonCoord_2=226;refseq.codonCoord_3=226;refseq.codonCoord_4=226;refseq.codonCoord_5=238;refseq.end_1=242406270;refseq.end_2=242406270;refseq.end_3=242406270;refseq.end_4=242406270;refseq.end_5=242406270;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=891;refseq.mrnaCoord_3=894;refseq.mrnaCoord_4=1389;refseq.mrnaCoord_5=1208;refseq.name2_1=NEU4;refseq.name2_2=NEU4;refseq.name2_3=NEU4;refseq.name2_4=NEU4;refseq.name2_5=NEU4;refseq.name_1=NM_001167599;refseq.name_2=NM_001167600;refseq.name_3=NM_001167601;refseq.name_4=NM_001167602;refseq.name_5=NM_080741;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A239A;refseq.proteinCoordStr_2=p.A226A;refseq.proteinCoordStr_3=p.A226A;refseq.proteinCoordStr_4=p.A226A;refseq.proteinCoordStr_5=p.A238A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.spliceDist_1=221;refseq.spliceDist_2=221;refseq.spliceDist_3=221;refseq.spliceDist_4=221;refseq.spliceDist_5=221;refseq.start_1=242406270;refseq.start_2=242406270;refseq.start_3=242406270;refseq.start_4=242406270;refseq.start_5=242406270;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;set=Intersection GT 1/0 chr2 242406876 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=5.60;MQ=97.92;MQ0=0;OQ=795.39;QD=9.04;RankSumP=0.104980;SB=-347.30;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1323T>C;refseq.codingCoordStr_2=c.1284T>C;refseq.codingCoordStr_3=c.1284T>C;refseq.codingCoordStr_4=c.1284T>C;refseq.codingCoordStr_5=c.1320T>C;refseq.codonCoord_1=441;refseq.codonCoord_2=428;refseq.codonCoord_3=428;refseq.codonCoord_4=428;refseq.codonCoord_5=440;refseq.end_1=242406876;refseq.end_2=242406876;refseq.end_3=242406876;refseq.end_4=242406876;refseq.end_5=242406876;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1817;refseq.mrnaCoord_2=1497;refseq.mrnaCoord_3=1500;refseq.mrnaCoord_4=1995;refseq.mrnaCoord_5=1814;refseq.name2_1=NEU4;refseq.name2_2=NEU4;refseq.name2_3=NEU4;refseq.name2_4=NEU4;refseq.name2_5=NEU4;refseq.name_1=NM_001167599;refseq.name_2=NM_001167600;refseq.name_3=NM_001167601;refseq.name_4=NM_001167602;refseq.name_5=NM_080741;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A441A;refseq.proteinCoordStr_2=p.A428A;refseq.proteinCoordStr_3=p.A428A;refseq.proteinCoordStr_4=p.A428A;refseq.proteinCoordStr_5=p.A440A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=-537;refseq.spliceDist_2=-537;refseq.spliceDist_3=-537;refseq.spliceDist_4=-537;refseq.spliceDist_5=-537;refseq.start_1=242406876;refseq.start_2=242406876;refseq.start_3=242406876;refseq.start_4=242406876;refseq.start_5=242406876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/0 chr2 242406999 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=2.58;MQ=98.63;MQ0=0;OQ=1496.01;QD=19.68;RankSumP=0.250847;SB=-578.18;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr2;refseq.chr_2=chr2;refseq.chr_3=chr2;refseq.chr_4=chr2;refseq.chr_5=chr2;refseq.codingCoordStr_1=c.1446G>A;refseq.codingCoordStr_2=c.1407G>A;refseq.codingCoordStr_3=c.1407G>A;refseq.codingCoordStr_4=c.1407G>A;refseq.codingCoordStr_5=c.1443G>A;refseq.codonCoord_1=482;refseq.codonCoord_2=469;refseq.codonCoord_3=469;refseq.codonCoord_4=469;refseq.codonCoord_5=481;refseq.end_1=242406999;refseq.end_2=242406999;refseq.end_3=242406999;refseq.end_4=242406999;refseq.end_5=242406999;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1940;refseq.mrnaCoord_2=1620;refseq.mrnaCoord_3=1623;refseq.mrnaCoord_4=2118;refseq.mrnaCoord_5=1937;refseq.name2_1=NEU4;refseq.name2_2=NEU4;refseq.name2_3=NEU4;refseq.name2_4=NEU4;refseq.name2_5=NEU4;refseq.name_1=NM_001167599;refseq.name_2=NM_001167600;refseq.name_3=NM_001167601;refseq.name_4=NM_001167602;refseq.name_5=NM_080741;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.K482K;refseq.proteinCoordStr_2=p.K469K;refseq.proteinCoordStr_3=p.K469K;refseq.proteinCoordStr_4=p.K469K;refseq.proteinCoordStr_5=p.K481K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.spliceDist_1=-414;refseq.spliceDist_2=-414;refseq.spliceDist_3=-414;refseq.spliceDist_4=-414;refseq.spliceDist_5=-414;refseq.start_1=242406999;refseq.start_2=242406999;refseq.start_3=242406999;refseq.start_4=242406999;refseq.start_5=242406999;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;set=Intersection GT 1/0 chr2 242441946 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=5.96;MQ=97.66;MQ0=0;OQ=925.20;QD=10.76;RankSumP=0.0130440;SB=-357.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr2;refseq.codingCoordStr=c.804T>C;refseq.codonCoord=268;refseq.end=242441946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_005018;refseq.name2=PDCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A268A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=177;refseq.start=242441946;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr2 242462682 . G A 19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=52.75;QD=8.79;RankSumP=0.400000;SB=-6.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr2;refseq.codingCoordStr=c.302G>A;refseq.codonCoord=101;refseq.end=242462682;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_173821;refseq.name2=C2orf85;refseq.positionType=CDS;refseq.proteinCoordStr=p.G101E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=144;refseq.start=242462682;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/0 chr3 336508 . C T 132.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=8.92;MQ=99.00;MQ0=0;OQ=1829.65;QD=16.79;RankSumP=0.476995;SB=-799.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.49C>T;refseq.codonCoord=17;refseq.end=336508;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=320;refseq.name=NM_006614;refseq.name2=CHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L17F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-43;refseq.start=336508;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr3 366100 . A G 380.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4862.01;QD=42.28;RankSumP=1.00000;SB=-997.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.907A>G;refseq.codonCoord=303;refseq.end=366100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_006614;refseq.name2=CHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T303A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=59;refseq.start=366100;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 414963 . A G 326.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.69;MQ0=0;OQ=6854.23;QD=41.79;RankSumP=1.00000;SB=-2703.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3148A>G;refseq.codonCoord=1050;refseq.end=414963;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3419;refseq.name=NM_006614;refseq.name2=CHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1050V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=54;refseq.start=414963;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr3 415028 . T C 252.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.69;MQ0=0;OQ=11123.15;QD=37.96;RankSumP=1.00000;SB=-5118.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3213T>C;refseq.codonCoord=1071;refseq.end=415028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3484;refseq.name=NM_006614;refseq.name2=CHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1071N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=415028;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 1237474 . T C 311.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=0;HaplotypeScore=14.13;MQ=98.61;MQ0=0;OQ=7020.57;QD=17.77;RankSumP=0.445851;SB=-2223.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.159T>C;refseq.codonCoord=53;refseq.end=1237474;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_014461;refseq.name2=CNTN6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N53N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-24;refseq.start=1237474;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr3 1399718 . G A 349.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=98.76;MQ0=0;OQ=7670.49;QD=19.87;RankSumP=0.185880;SB=-2796.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2259G>A;refseq.codonCoord=753;refseq.end=1399718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2526;refseq.name=NM_014461;refseq.name2=CNTN6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V753V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=93;refseq.start=1399718;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr3 1399850 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=4;HaplotypeScore=1.15;MQ=98.99;MQ0=0;OQ=2778.45;QD=15.10;RankSumP=0.233938;SB=-538.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2391T>G;refseq.codonCoord=797;refseq.end=1399850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2658;refseq.name=NM_014461;refseq.name2=CNTN6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S797S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-11;refseq.start=1399850;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr3 3051401 . C T 301.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=98.67;MQ0=0;OQ=10263.59;QD=35.39;RankSumP=1.00000;SB=-2777.91;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1869C>T;refseq.codingCoordStr_2=c.885C>T;refseq.codonCoord_1=623;refseq.codonCoord_2=295;refseq.end_1=3051401;refseq.end_2=3051401;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2090;refseq.mrnaCoord_2=953;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175613;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N623N;refseq.proteinCoordStr_2=p.N295N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=3051401;refseq.start_2=3051401;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr3 3051443 . A G 142.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=98.77;MQ0=0;OQ=18270.91;QD=36.76;RankSumP=1.00000;SB=-7341.52;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1911A>G;refseq.codingCoordStr_2=c.927A>G;refseq.codonCoord_1=637;refseq.codonCoord_2=309;refseq.end_1=3051443;refseq.end_2=3051443;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2132;refseq.mrnaCoord_2=995;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175613;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P637P;refseq.proteinCoordStr_2=p.P309P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=3051443;refseq.start_2=3051443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr3 3056750 . A T 293.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.81;MQ0=0;OQ=9661.60;QD=37.74;RankSumP=1.00000;SB=-3727.67;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2193A>T;refseq.codingCoordStr_2=c.-40A>T;refseq.codingCoordStr_3=c.1209A>T;refseq.codonCoord_1=731;refseq.codonCoord_3=403;refseq.end_1=3056750;refseq.end_2=3056750;refseq.end_3=3056750;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2414;refseq.mrnaCoord_2=443;refseq.mrnaCoord_3=1277;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name2_3=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175612;refseq.name_3=NM_175613;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R731R;refseq.proteinCoordStr_3=p.R403R;refseq.referenceAA_1=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=30;refseq.spliceDist_2=-206;refseq.spliceDist_3=30;refseq.start_1=3056750;refseq.start_2=3056750;refseq.start_3=3056750;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr3 3056825 . T C 302.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.76;MQ0=0;OQ=10091.17;QD=36.96;RankSumP=1.00000;SB=-4398.81;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2268T>C;refseq.codingCoordStr_2=c.36T>C;refseq.codingCoordStr_3=c.1284T>C;refseq.codonCoord_1=756;refseq.codonCoord_2=12;refseq.codonCoord_3=428;refseq.end_1=3056825;refseq.end_2=3056825;refseq.end_3=3056825;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2489;refseq.mrnaCoord_2=518;refseq.mrnaCoord_3=1352;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name2_3=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175612;refseq.name_3=NM_175613;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D756D;refseq.proteinCoordStr_2=p.D12D;refseq.proteinCoordStr_3=p.D428D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=105;refseq.spliceDist_2=-131;refseq.spliceDist_3=105;refseq.start_1=3056825;refseq.start_2=3056825;refseq.start_3=3056825;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr3 3059007 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2412A>C;refseq.codingCoordStr_2=c.180A>C;refseq.codingCoordStr_3=c.1428A>C;refseq.codonCoord_1=804;refseq.codonCoord_2=60;refseq.codonCoord_3=476;refseq.end_1=3059007;refseq.end_2=3059007;refseq.end_3=3059007;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2633;refseq.mrnaCoord_2=662;refseq.mrnaCoord_3=1496;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name2_3=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175612;refseq.name_3=NM_175613;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P804P;refseq.proteinCoordStr_2=p.P60P;refseq.proteinCoordStr_3=p.P476P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=3059007;refseq.start_2=3059007;refseq.start_3=3059007;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr3 3070492 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2813T>G;refseq.codingCoordStr_2=c.581T>G;refseq.codingCoordStr_3=c.1829T>G;refseq.codonCoord_1=938;refseq.codonCoord_2=194;refseq.codonCoord_3=610;refseq.end_1=3070492;refseq.end_2=3070492;refseq.end_3=3070492;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3034;refseq.mrnaCoord_2=1063;refseq.mrnaCoord_3=1897;refseq.name2_1=CNTN4;refseq.name2_2=CNTN4;refseq.name2_3=CNTN4;refseq.name_1=NM_175607;refseq.name_2=NM_175612;refseq.name_3=NM_175613;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V938G;refseq.proteinCoordStr_2=p.V194G;refseq.proteinCoordStr_3=p.V610G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=3070492;refseq.start_2=3070492;refseq.start_3=3070492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr3 3114957 . T C 312.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.91;MQ0=0;OQ=6178.70;QD=22.31;RankSumP=0.276654;SB=-1893.85;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.385A>G;refseq.codingCoordStr_2=c.385A>G;refseq.codingCoordStr_3=c.385A>G;refseq.codingCoordStr_4=c.385A>G;refseq.codingCoordStr_5=c.385A>G;refseq.codingCoordStr_6=c.385A>G;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.codonCoord_3=129;refseq.codonCoord_4=129;refseq.codonCoord_5=129;refseq.codonCoord_6=129;refseq.end_1=3114957;refseq.end_2=3114957;refseq.end_3=3114957;refseq.end_4=3114957;refseq.end_5=3114957;refseq.end_6=3114957;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1029;refseq.mrnaCoord_2=1029;refseq.mrnaCoord_3=1029;refseq.mrnaCoord_4=960;refseq.mrnaCoord_5=960;refseq.mrnaCoord_6=960;refseq.name2_1=IL5RA;refseq.name2_2=IL5RA;refseq.name2_3=IL5RA;refseq.name2_4=IL5RA;refseq.name2_5=IL5RA;refseq.name2_6=IL5RA;refseq.name_1=NM_000564;refseq.name_2=NM_175724;refseq.name_3=NM_175725;refseq.name_4=NM_175726;refseq.name_5=NM_175727;refseq.name_6=NM_175728;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I129V;refseq.proteinCoordStr_2=p.I129V;refseq.proteinCoordStr_3=p.I129V;refseq.proteinCoordStr_4=p.I129V;refseq.proteinCoordStr_5=p.I129V;refseq.proteinCoordStr_6=p.I129V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.spliceDist_5=18;refseq.spliceDist_6=18;refseq.start_1=3114957;refseq.start_2=3114957;refseq.start_3=3114957;refseq.start_4=3114957;refseq.start_5=3114957;refseq.start_6=3114957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;set=Intersection GT 1/0 chr3 3145792 . C T 148.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=14.44;MQ=98.71;MQ0=0;OQ=17300.22;QD=41.49;RankSumP=1.00000;SB=-3713.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.68C>T;refseq.codonCoord=23;refseq.end=3145792;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_182916;refseq.name2=TRNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P23L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-81;refseq.start=3145792;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 3164279 . A G 271.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=98.97;MQ0=0;OQ=1590.86;QD=17.29;RankSumP=0.474535;SB=-681.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.948A>G;refseq.codonCoord=316;refseq.end=3164279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_182916;refseq.name2=TRNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A316A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-109;refseq.start=3164279;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr3 3167694 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1181C>A;refseq.codingCoordStr_2=c.1184C>A;refseq.codonCoord_1=394;refseq.codonCoord_2=395;refseq.end_1=3167694;refseq.end_2=3167694;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1214;refseq.name2_1=CRBN;refseq.name2_2=CRBN;refseq.name_1=NM_001173482;refseq.name_2=NM_016302;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A394E;refseq.proteinCoordStr_2=p.A395E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=3167694;refseq.start_2=3167694;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr3 3196322 . T G 99 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=151;Dels=0.00;HRun=2;HaplotypeScore=23.02;MQ=97.92;MQ0=0;QD=0.09;RankSumP=1.24721e-05;SB=143.45;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.50A>C;refseq.codingCoordStr_2=c.50A>C;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=3196322;refseq.end_2=3196322;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=80;refseq.mrnaCoord_2=80;refseq.name2_1=CRBN;refseq.name2_2=CRBN;refseq.name_1=NM_001173482;refseq.name_2=NM_016302;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H17P;refseq.proteinCoordStr_2=p.H17P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=3196322;refseq.start_2=3196322;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr3 3861580 . A G 158.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=15.57;MQ=98.87;MQ0=0;OQ=11105.28;QD=38.29;RankSumP=1.00000;SB=-3787.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.255A>G;refseq.codonCoord=85;refseq.end=3861580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_020873;refseq.name2=LRRN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A85A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=533;refseq.start=3861580;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr3 3862876 . T C 356.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=98.87;MQ0=0;OQ=6492.58;QD=37.75;RankSumP=1.00000;SB=-2948.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1551T>C;refseq.codonCoord=517;refseq.end=3862876;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2312;refseq.name=NM_020873;refseq.name2=LRRN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N517N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1512;refseq.start=3862876;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 4329697 . G A 247.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=3175.85;QD=17.35;RankSumP=0.0761919;SB=-848.33;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.272G>A;refseq.codonCoord_2=91;refseq.end_1=4329697;refseq.end_2=4329697;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=339;refseq.name2_1=SETMAR;refseq.name2_2=SETMAR;refseq.name_1=NR_024022;refseq.name_2=NM_006515;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R91H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.start_1=4329697;refseq.start_2=4329697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr3 4333210 . A G 154.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.20;MQ0=0;OQ=1608.63;QD=38.30;RankSumP=1.00000;SB=-385.65;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1335A>G;refseq.codonCoord_2=445;refseq.end_1=4333210;refseq.end_2=4333210;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1435;refseq.mrnaCoord_2=1402;refseq.name2_1=SETMAR;refseq.name2_2=SETMAR;refseq.name_1=NR_024022;refseq.name_2=NM_006515;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R445R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=315;refseq.spliceDist_2=315;refseq.start_1=4333210;refseq.start_2=4333210;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr3 4378837 . A G 164.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=8.03;MQ=98.60;MQ0=0;OQ=4861.91;QD=18.92;RankSumP=0.287373;SB=-974.11;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1041T>C;refseq.codingCoordStr_2=c.1056T>C;refseq.codingCoordStr_3=c.1116T>C;refseq.codonCoord_1=347;refseq.codonCoord_2=352;refseq.codonCoord_3=372;refseq.end_1=4378837;refseq.end_2=4378837;refseq.end_3=4378837;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1093;refseq.mrnaCoord_3=1153;refseq.name2_1=SUMF1;refseq.name2_2=SUMF1;refseq.name2_3=SUMF1;refseq.name_1=NM_001164674;refseq.name_2=NM_001164675;refseq.name_3=NM_182760;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T347T;refseq.proteinCoordStr_2=p.T352T;refseq.proteinCoordStr_3=p.T372T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=102;refseq.spliceDist_2=102;refseq.spliceDist_3=102;refseq.start_1=4378837;refseq.start_2=4378837;refseq.start_3=4378837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 0/1 chr3 4999771 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=229.49;QD=8.83;RankSumP=0.508476;SB=-140.70;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.633T>C;refseq.codonCoord=211;refseq.end=4999771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_003670;refseq.name2=BHLHE40;refseq.positionType=CDS;refseq.proteinCoordStr=p.G211G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=251;refseq.start=4999771;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr3 5204643 . C T 32.46 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=95.03;MQ0=0;QD=5.41;RankSumP=0.133333;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.153C>T;refseq.codonCoord=51;refseq.end=5204643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_014674;refseq.name2=EDEM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G51G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=285;refseq.start=5204643;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr3 5216309 . C A 318.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=98.89;MQ0=0;OQ=9435.78;QD=40.32;RankSumP=1.00000;SB=-4429.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.615C>A;refseq.codonCoord=205;refseq.end=5216309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_014674;refseq.name2=EDEM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A205A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=33;refseq.start=5216309;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 6878297 . C T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=293.67;QD=10.13;RankSumP=0.265391;SB=-72.27;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.222C>T;refseq.codingCoordStr_2=c.222C>T;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=6878297;refseq.end_2=6878297;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=496;refseq.mrnaCoord_2=496;refseq.name2_1=GRM7;refseq.name2_2=GRM7;refseq.name_1=NM_000844;refseq.name_2=NM_181874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N74N;refseq.proteinCoordStr_2=p.N74N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-298;refseq.spliceDist_2=-298;refseq.start_1=6878297;refseq.start_2=6878297;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr3 7163180 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=517;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.73;MQ0=0;OQ=8075.74;QD=15.62;RankSumP=0.00246906;SB=-3052.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.561T>C;refseq.codingCoordStr_2=c.561T>C;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.end_1=7163180;refseq.end_2=7163180;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=835;refseq.mrnaCoord_2=835;refseq.name2_1=GRM7;refseq.name2_2=GRM7;refseq.name_1=NM_000844;refseq.name_2=NM_181874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S187S;refseq.proteinCoordStr_2=p.S187S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=7163180;refseq.start_2=7163180;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=filterInsoap-gatk GT 1/0 chr3 7595789 . T C 403.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.88;MQ0=0;OQ=7424.61;QD=38.07;RankSumP=1.00000;SB=-3347.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2196T>C;refseq.codingCoordStr_2=c.2196T>C;refseq.codonCoord_1=732;refseq.codonCoord_2=732;refseq.end_1=7595789;refseq.end_2=7595789;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2470;refseq.mrnaCoord_2=2470;refseq.name2_1=GRM7;refseq.name2_2=GRM7;refseq.name_1=NM_000844;refseq.name_2=NM_181874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y732Y;refseq.proteinCoordStr_2=p.Y732Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-256;refseq.spliceDist_2=-256;refseq.start_1=7595789;refseq.start_2=7595789;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr3 7596000 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2407G>T;refseq.codingCoordStr_2=c.2407G>T;refseq.codonCoord_1=803;refseq.codonCoord_2=803;refseq.end_1=7596000;refseq.end_2=7596000;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2681;refseq.mrnaCoord_2=2681;refseq.name2_1=GRM7;refseq.name2_2=GRM7;refseq.name_1=NM_000844;refseq.name_2=NM_181874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A803S;refseq.proteinCoordStr_2=p.A803S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=7596000;refseq.start_2=7596000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr3 8784703 . G A 307.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.56;MQ0=0;OQ=2677.03;QD=37.18;RankSumP=1.00000;SB=-1085.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.171C>T;refseq.codonCoord=57;refseq.end=8784703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_000916;refseq.name2=OXTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N57N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=313;refseq.start=8784703;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr3 8930389 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=1.24;MQ=98.71;MQ0=0;OQ=1443.40;QD=13.49;RankSumP=0.461778;SB=-344.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.905G>A;refseq.codonCoord=302;refseq.end=8930389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_020165;refseq.name2=RAD18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R302Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=16;refseq.start=8930389;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr3 9381836 . T C 162.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=8.65;MQ=98.71;MQ0=0;OQ=9077.79;QD=32.31;RankSumP=1.00000;SB=-4286.84;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.84T>C;refseq.codingCoordStr_2=c.84T>C;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=9381836;refseq.end_2=9381836;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=232;refseq.mrnaCoord_2=437;refseq.name2_1=THUMPD3;refseq.name2_2=THUMPD3;refseq.name_1=NM_001114092;refseq.name_2=NM_015453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S28S;refseq.proteinCoordStr_2=p.S28S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=137;refseq.spliceDist_2=137;refseq.start_1=9381836;refseq.start_2=9381836;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr3 9397210 . T C 233.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=10.46;MQ=98.77;MQ0=0;OQ=9134.04;QD=40.96;RankSumP=1.00000;SB=-2997.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1032T>C;refseq.codingCoordStr_2=c.1032T>C;refseq.codonCoord_1=344;refseq.codonCoord_2=344;refseq.end_1=9397210;refseq.end_2=9397210;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1385;refseq.name2_1=THUMPD3;refseq.name2_2=THUMPD3;refseq.name_1=NM_001114092;refseq.name_2=NM_015453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C344C;refseq.proteinCoordStr_2=p.C344C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=9397210;refseq.start_2=9397210;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr3 9400911 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.50;MQ0=0;OQ=4903.59;QD=41.91;RankSumP=1.00000;SB=-1790.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1251G>A;refseq.codingCoordStr_2=c.1251G>A;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.end_1=9400911;refseq.end_2=9400911;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1399;refseq.mrnaCoord_2=1604;refseq.name2_1=THUMPD3;refseq.name2_2=THUMPD3;refseq.name_1=NM_001114092;refseq.name_2=NM_015453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K417K;refseq.proteinCoordStr_2=p.K417K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=9400911;refseq.start_2=9400911;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr3 9743390 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1386A>C;refseq.codonCoord=462;refseq.end=9743390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1557;refseq.name=NM_153635;refseq.name2=CPNE9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G462G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-17;refseq.start=9743390;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr3 9750903 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.79A>C;refseq.codingCoordStr_2=c.79A>C;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=9750903;refseq.end_2=9750903;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=478;refseq.mrnaCoord_2=478;refseq.name2_1=BRPF1;refseq.name2_2=BRPF1;refseq.name_1=NM_001003694;refseq.name_2=NM_004634;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T27P;refseq.proteinCoordStr_2=p.T27P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.start_1=9750903;refseq.start_2=9750903;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 9758081 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=187;Dels=0.00;HRun=1;HaplotypeScore=9.72;MQ=98.80;MQ0=0;OQ=2663.93;QD=14.25;RankSumP=0.0570625;SB=-593.62;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1812C>T;refseq.codingCoordStr_2=c.1812C>T;refseq.codonCoord_1=604;refseq.codonCoord_2=604;refseq.end_1=9758081;refseq.end_2=9758081;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2211;refseq.mrnaCoord_2=2211;refseq.name2_1=BRPF1;refseq.name2_2=BRPF1;refseq.name_1=NM_001003694;refseq.name_2=NM_004634;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L604L;refseq.proteinCoordStr_2=p.L604L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=9758081;refseq.start_2=9758081;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr3 9760283 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.000909050;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2333T>G;refseq.codingCoordStr_2=c.2315T>G;refseq.codonCoord_1=778;refseq.codonCoord_2=772;refseq.end_1=9760283;refseq.end_2=9760283;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2732;refseq.mrnaCoord_2=2714;refseq.name2_1=BRPF1;refseq.name2_2=BRPF1;refseq.name_1=NM_001003694;refseq.name_2=NM_004634;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V778G;refseq.proteinCoordStr_2=p.V772G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=9760283;refseq.start_2=9760283;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr3 9761696 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2925A>C;refseq.codingCoordStr_2=c.2907A>C;refseq.codonCoord_1=975;refseq.codonCoord_2=969;refseq.end_1=9761696;refseq.end_2=9761696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3324;refseq.mrnaCoord_2=3306;refseq.name2_1=BRPF1;refseq.name2_2=BRPF1;refseq.name_1=NM_001003694;refseq.name_2=NM_004634;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L975F;refseq.proteinCoordStr_2=p.L969F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=9761696;refseq.start_2=9761696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr3 9773773 . C G 124.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=15.88;MQ=98.57;MQ0=0;OQ=1883.65;QD=14.72;RankSumP=0.00528105;SB=-660.37;SecondBestBaseQ=27;refseq.changesAA_6=true;refseq.changesAA_8=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.chr_8=chr3;refseq.codingCoordStr_6=c.977C>G;refseq.codingCoordStr_7=c.*246C>G;refseq.codingCoordStr_8=c.994C>G;refseq.codonCoord_6=326;refseq.codonCoord_8=332;refseq.end_1=9782482;refseq.end_2=9782482;refseq.end_3=9775860;refseq.end_4=9775907;refseq.end_5=9782482;refseq.end_6=9773773;refseq.end_7=9773773;refseq.end_8=9773773;refseq.frame_6=1;refseq.frame_8=0;refseq.functionalClass_6=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.mrnaCoord_6=1320;refseq.mrnaCoord_7=1564;refseq.mrnaCoord_8=1337;refseq.name2_1=OGG1;refseq.name2_2=OGG1;refseq.name2_3=OGG1;refseq.name2_4=OGG1;refseq.name2_5=OGG1;refseq.name2_6=OGG1;refseq.name2_7=OGG1;refseq.name2_8=OGG1;refseq.name_1=NM_016827;refseq.name_2=NM_016826;refseq.name_3=NM_016828;refseq.name_4=NM_016829;refseq.name_5=NM_016821;refseq.name_6=NM_002542;refseq.name_7=NM_016819;refseq.name_8=NM_016820;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=utr3;refseq.positionType_8=CDS;refseq.proteinCoordStr_6=p.S326C;refseq.proteinCoordStr_8=p.P332A;refseq.referenceAA_6=Ser;refseq.referenceAA_8=Pro;refseq.referenceCodon_6=TCC;refseq.referenceCodon_8=CCC;refseq.spliceDist_6=29;refseq.spliceDist_7=-315;refseq.spliceDist_8=46;refseq.start_1=9768644;refseq.start_2=9771580;refseq.start_3=9773511;refseq.start_4=9773511;refseq.start_5=9773511;refseq.start_6=9773773;refseq.start_7=9773773;refseq.start_8=9773773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_6=Cys;refseq.variantAA_8=Ala;refseq.variantCodon_6=TGC;refseq.variantCodon_8=GCC;set=filterInsoap-gatk GT 1/0 chr3 9842625 . C T 313.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=7.87;MQ=98.45;MQ0=0;OQ=5660.04;QD=22.37;RankSumP=0.115991;SB=-2115.71;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.867C>T;refseq.codonCoord=289;refseq.end=9842625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_001025930;refseq.name2=TTLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R289R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=9842625;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr3 9845857 . G A 119.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=1;HaplotypeScore=8.59;MQ=98.82;MQ0=0;OQ=5680.69;QD=20.88;RankSumP=0.0306295;SB=-1803.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1332G>A;refseq.codonCoord=444;refseq.end=9845857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1548;refseq.name=NM_001025930;refseq.name2=TTLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q444Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=214;refseq.start=9845857;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 9846030 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=98.43;MQ0=0;OQ=760.70;QD=13.83;RankSumP=0.699132;SB=-308.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1505T>G;refseq.codonCoord=502;refseq.end=9846030;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1721;refseq.name=NM_001025930;refseq.name2=TTLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M502R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-50;refseq.start=9846030;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr3 9860632 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00168124;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.67C>G;refseq.codingCoordStr_2=c.67C>G;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=9860632;refseq.end_2=9860632;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=71;refseq.mrnaCoord_2=71;refseq.name2_1=RPUSD3;refseq.name2_2=RPUSD3;refseq.name_1=NM_001142547;refseq.name_2=NM_173659;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R23G;refseq.proteinCoordStr_2=p.R23G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=9860632;refseq.start_2=9860632;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 9886862 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.352C>G;refseq.codonCoord=118;refseq.end=9886862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_022094;refseq.name2=CIDEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P118A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-15;refseq.start=9886862;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr3 9895138 . G C 82.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.74;MQ0=0;OQ=8868.07;QD=48.20;RankSumP=1.00000;SB=-4432.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.33C>G;refseq.codonCoord=11;refseq.end=9895138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_022094;refseq.name2=CIDEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-21;refseq.start=9895138;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 9909605 . T C 153.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=6.25;MQ=98.86;MQ0=0;OQ=4526.79;QD=20.30;RankSumP=0.157213;SB=-896.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=9909605;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_032492;refseq.name2=JAGN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=9909605;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr3 9945031 . A G 272.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=96.20;MQ0=0;OQ=2291.42;QD=34.72;RankSumP=1.00000;SB=-1130.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.875A>G;refseq.codingCoordStr_2=c.920A>G;refseq.codingCoordStr_3=c.1133A>G;refseq.codonCoord_1=292;refseq.codonCoord_2=307;refseq.codonCoord_3=378;refseq.end_1=9945031;refseq.end_2=9945031;refseq.end_3=9945031;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1111;refseq.mrnaCoord_2=1156;refseq.mrnaCoord_3=1369;refseq.name2_1=IL17RC;refseq.name2_2=IL17RC;refseq.name2_3=IL17RC;refseq.name_1=NM_032732;refseq.name_2=NM_153460;refseq.name_3=NM_153461;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q292R;refseq.proteinCoordStr_2=p.Q307R;refseq.proteinCoordStr_3=p.Q378R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=9945031;refseq.start_2=9945031;refseq.start_3=9945031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 1/1 chr3 9945118 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=4;RankSumP=0.00291663;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.962A>C;refseq.codingCoordStr_2=c.1007A>C;refseq.codingCoordStr_3=c.1220A>C;refseq.codonCoord_1=321;refseq.codonCoord_2=336;refseq.codonCoord_3=407;refseq.end_1=9945118;refseq.end_2=9945118;refseq.end_3=9945118;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1198;refseq.mrnaCoord_2=1243;refseq.mrnaCoord_3=1456;refseq.name2_1=IL17RC;refseq.name2_2=IL17RC;refseq.name2_3=IL17RC;refseq.name_1=NM_032732;refseq.name_2=NM_153460;refseq.name_3=NM_153461;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D321A;refseq.proteinCoordStr_2=p.D336A;refseq.proteinCoordStr_3=p.D407A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.start_1=9945118;refseq.start_2=9945118;refseq.start_3=9945118;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr3 9950247 . C G 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=508.95;QD=46.27;RankSumP=1.00000;SB=-156.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2088C>G;refseq.codingCoordStr_2=c.2133C>G;refseq.codingCoordStr_3=c.2346C>G;refseq.codonCoord_1=696;refseq.codonCoord_2=711;refseq.codonCoord_3=782;refseq.end_1=9950247;refseq.end_2=9950247;refseq.end_3=9950247;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2324;refseq.mrnaCoord_2=2369;refseq.mrnaCoord_3=2582;refseq.name2_1=IL17RC;refseq.name2_2=IL17RC;refseq.name2_3=IL17RC;refseq.name_1=NM_032732;refseq.name_2=NM_153460;refseq.name_3=NM_153461;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G696G;refseq.proteinCoordStr_2=p.G711G;refseq.proteinCoordStr_3=p.G782G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=9950247;refseq.start_2=9950247;refseq.start_3=9950247;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/1 chr3 9951159 . A G 310.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.57;MQ0=0;OQ=4140.56;QD=36.64;RankSumP=1.00000;SB=-1917.30;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.37A>G;refseq.codingCoordStr_2=c.37A>G;refseq.codingCoordStr_3=c.37A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.codonCoord_3=13;refseq.end_1=9951159;refseq.end_2=9951159;refseq.end_3=9951159;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=136;refseq.mrnaCoord_2=136;refseq.mrnaCoord_3=636;refseq.name2_1=CRELD1;refseq.name2_2=CRELD1;refseq.name2_3=CRELD1;refseq.name_1=NM_001031717;refseq.name_2=NM_001077415;refseq.name_3=NM_015513;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M13V;refseq.proteinCoordStr_2=p.M13V;refseq.proteinCoordStr_3=p.M13V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=-138;refseq.start_1=9951159;refseq.start_2=9951159;refseq.start_3=9951159;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr3 9960656 . C T 236.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=7.29;MQ=98.82;MQ0=0;OQ=6241.31;QD=18.97;RankSumP=0.358382;SB=-2260.54;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.1119C>T;refseq.codonCoord_3=373;refseq.end_1=9961038;refseq.end_2=9961038;refseq.end_3=9960656;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1218;refseq.name2_1=CRELD1;refseq.name2_2=CRELD1;refseq.name2_3=CRELD1;refseq.name_1=NM_001077415;refseq.name_2=NM_015513;refseq.name_3=NM_001031717;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H373H;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAC;refseq.spliceDist_3=71;refseq.start_1=9960210;refseq.start_2=9960210;refseq.start_3=9960656;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=His;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr3 9965800 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=224;Dels=0.00;HRun=2;HaplotypeScore=10.83;MQ=98.62;MQ0=0;OQ=4769.81;QD=21.29;RankSumP=0.105671;SB=-1824.87;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1000C>G;refseq.codonCoord=334;refseq.end=9965800;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_207351;refseq.name2=PRRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R334G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-16;refseq.start=9965800;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr3 9966101 . C G 110.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=6.66;MQ=98.77;MQ0=0;OQ=2284.81;QD=18.13;RankSumP=0.0314309;SB=-920.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.699G>C;refseq.codonCoord=233;refseq.end=9966101;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_207351;refseq.name2=PRRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L233F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-317;refseq.start=9966101;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr3 9966163 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=3;HaplotypeScore=5.26;MQ=98.05;MQ0=0;OQ=2821.15;QD=14.32;RankSumP=0.211674;SB=-1272.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.637T>C;refseq.codonCoord=213;refseq.end=9966163;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_207351;refseq.name2=PRRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S213P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-379;refseq.start=9966163;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr3 9966388 . G C 143.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.10;MQ0=0;OQ=6867.93;QD=47.37;RankSumP=1.00000;SB=-2717.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.412C>G;refseq.codonCoord=138;refseq.end=9966388;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_207351;refseq.name2=PRRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q138E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=469;refseq.start=9966388;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr3 10060536 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.417735;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1122A>G;refseq.codingCoordStr_2=c.1122A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=10060536;refseq.end_2=10060536;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1200;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V374V;refseq.proteinCoordStr_2=p.V374V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=10060536;refseq.start_2=10060536;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr3 10063266 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=3;HaplotypeScore=8.00;MQ=94.03;MQ0=0;OQ=410.67;QD=2.11;SB=-18.04;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1137G>T;refseq.codingCoordStr_2=c.1137G>T;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.end_1=10063266;refseq.end_2=10063266;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1215;refseq.mrnaCoord_2=1215;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V379V;refseq.proteinCoordStr_2=p.V379V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=10063266;refseq.start_2=10063266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:170,25:195:-103.06,-58.71,-705.87:99 chr3 10063299 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=310;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=79.88;MQ0=4;OQ=1386.12;QD=4.47;SB=-440.37;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1170C>T;refseq.codingCoordStr_2=c.1170C>T;refseq.codonCoord_1=390;refseq.codonCoord_2=390;refseq.end_1=10063299;refseq.end_2=10063299;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1248;refseq.mrnaCoord_2=1248;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S390S;refseq.proteinCoordStr_2=p.S390S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=10063299;refseq.start_2=10063299;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:253,57:304:-233.42,-91.53,-1051.75:99 chr3 10063308 . T C 0.17 PASS AC=1;AF=0.50;AN=2;DP=353;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=76.90;MQ0=8;OQ=1893.99;QD=5.37;SB=-825.61;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1179T>C;refseq.codingCoordStr_2=c.1179T>C;refseq.codonCoord_1=393;refseq.codonCoord_2=393;refseq.end_1=10063308;refseq.end_2=10063308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1257;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T393T;refseq.proteinCoordStr_2=p.T393T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=10063308;refseq.start_2=10063308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:282,71:345:-296.57,-103.88,-1204.11:99 chr3 10063343 . A G 11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=419;Dels=0.00;HRun=0;HaplotypeScore=8.86;MQ=58.00;MQ0=87;OQ=2469.65;QD=5.89;RankSumP=0.408266;SB=-1136.18;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1214A>G;refseq.codingCoordStr_2=c.1214A>G;refseq.codonCoord_1=405;refseq.codonCoord_2=405;refseq.end_1=10063343;refseq.end_2=10063343;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=1292;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N405S;refseq.proteinCoordStr_2=p.N405S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=10063343;refseq.start_2=10063343;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=filterInsoap-gatk GT 0/1 chr3 10063404 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=214;Dels=0.00;HRun=2;HaplotypeScore=1.97;MQ=43.62;MQ0=151;OQ=240.95;QD=1.13;SB=-3.99;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1275C>T;refseq.codingCoordStr_2=c.1275C>T;refseq.codonCoord_1=425;refseq.codonCoord_2=425;refseq.end_1=10063404;refseq.end_2=10063404;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1353;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y425Y;refseq.proteinCoordStr_2=p.Y425Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=10063404;refseq.start_2=10063404;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:194,20:56:-44.24,-16.86,-192.38:99 chr3 10064723 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=14.51;MQ=96.38;MQ0=0;OQ=1150.85;QD=3.81;RankSumP=0.426394;SB=-179.89;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1401G>A;refseq.codingCoordStr_2=c.1401G>A;refseq.codonCoord_1=467;refseq.codonCoord_2=467;refseq.end_1=10064723;refseq.end_2=10064723;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1479;refseq.mrnaCoord_2=1479;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T467T;refseq.proteinCoordStr_2=p.T467T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=10064723;refseq.start_2=10064723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr3 10081100 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.218182;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2008G>A;refseq.codingCoordStr_2=c.2008G>A;refseq.codonCoord_1=670;refseq.codonCoord_2=670;refseq.end_1=10081100;refseq.end_2=10081100;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2086;refseq.mrnaCoord_2=2086;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V670I;refseq.proteinCoordStr_2=p.V670I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=10081100;refseq.start_2=10081100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=FilteredInAll GT 1/0 chr3 10081532 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.461862;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2141C>T;refseq.codingCoordStr_2=c.2141C>T;refseq.codonCoord_1=714;refseq.codonCoord_2=714;refseq.end_1=10081532;refseq.end_2=10081532;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2219;refseq.mrnaCoord_2=2219;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P714L;refseq.proteinCoordStr_2=p.P714L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=10081532;refseq.start_2=10081532;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=soap GT 0/1 chr3 10083898 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.60;MQ0=0;OQ=756.01;QD=4.97;SB=-26.14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2391A>G;refseq.codingCoordStr_2=c.2391A>G;refseq.codonCoord_1=797;refseq.codonCoord_2=797;refseq.end_1=10083898;refseq.end_2=10083898;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2469;refseq.mrnaCoord_2=2469;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V797V;refseq.proteinCoordStr_2=p.V797V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=10083898;refseq.start_2=10083898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:124,28:152:-124.66,-45.78,-523.17:99 chr3 10083913 . G T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=88.38;MQ0=0;OQ=569.75;QD=3.05;SB=-196.95;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2406G>T;refseq.codingCoordStr_2=c.2406G>T;refseq.codonCoord_1=802;refseq.codonCoord_2=802;refseq.end_1=10083913;refseq.end_2=10083913;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2484;refseq.mrnaCoord_2=2484;refseq.name2_1=FANCD2;refseq.name2_2=FANCD2;refseq.name_1=NM_001018115;refseq.name_2=NM_033084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q802H;refseq.proteinCoordStr_2=p.Q802H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=10083913;refseq.start_2=10083913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:157,30:185:-115.96,-55.70,-649.15:99 chr3 10113069 . T G 196.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=15.88;MQ=98.72;MQ0=0;OQ=6748.26;QD=21.98;RankSumP=0.165722;SB=-1650.34;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.4098T>G;refseq.codingCoordStr_3=c.4098T>G;refseq.codonCoord_2=1366;refseq.codonCoord_3=1366;refseq.end_1=10120871;refseq.end_2=10113069;refseq.end_3=10113069;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=4176;refseq.mrnaCoord_3=4176;refseq.name2_1=C3orf24;refseq.name2_2=FANCD2;refseq.name2_3=FANCD2;refseq.name_1=NM_173472;refseq.name_2=NM_001018115;refseq.name_3=NM_033084;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L1366L;refseq.proteinCoordStr_3=p.L1366L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=10098226;refseq.start_2=10113069;refseq.start_3=10113069;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr3 10239480 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=431;Dels=0.00;HRun=1;HaplotypeScore=6.30;MQ=98.63;MQ0=0;OQ=20319.31;QD=47.14;RankSumP=1.00000;SB=-8385.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1174C>G;refseq.codonCoord=392;refseq.end=10239480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_001570;refseq.name2=IRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L392V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-36;refseq.start=10239480;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 10251163 . T A 324.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=6144.05;QD=39.64;RankSumP=1.00000;SB=-2243.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1293T>A;refseq.codonCoord=431;refseq.end=10251163;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_001570;refseq.name2=IRAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D431E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=21;refseq.start=10251163;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr3 10277172 . G A 10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=133.12;QD=7.83;RankSumP=0.145604;SB=-75.04;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.766G>A;refseq.codonCoord=256;refseq.end=10277172;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_014760;refseq.name2=TATDN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V256I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-183;refseq.start=10277172;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/0 chr3 10354923 . C T 225.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=98.36;MQ0=0;OQ=2959.03;QD=14.16;RankSumP=0.468735;SB=-1481.02;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3357G>A;refseq.codingCoordStr_2=c.3222G>A;refseq.codonCoord_1=1119;refseq.codonCoord_2=1074;refseq.end_1=10354923;refseq.end_2=10354923;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3796;refseq.mrnaCoord_2=3661;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1119A;refseq.proteinCoordStr_2=p.A1074A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=10354923;refseq.start_2=10354923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr3 10362785 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2441T>G;refseq.codingCoordStr_2=c.2306T>G;refseq.codonCoord_1=814;refseq.codonCoord_2=769;refseq.end_1=10362785;refseq.end_2=10362785;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2880;refseq.mrnaCoord_2=2745;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V814G;refseq.proteinCoordStr_2=p.V769G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=10362785;refseq.start_2=10362785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 10388601 . G A 329.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=98.77;MQ0=0;OQ=9435.98;QD=20.08;RankSumP=0.0313888;SB=-3077.12;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1551C>T;refseq.codingCoordStr_2=c.1416C>T;refseq.codonCoord_1=517;refseq.codonCoord_2=472;refseq.end_1=10388601;refseq.end_2=10388601;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1990;refseq.mrnaCoord_2=1855;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G517G;refseq.proteinCoordStr_2=p.G472G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-109;refseq.spliceDist_2=-109;refseq.start_1=10388601;refseq.start_2=10388601;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr3 10388715 . G A 287.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=98.38;MQ0=0;OQ=12539.13;QD=40.58;RankSumP=1.00000;SB=-4681.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1437C>T;refseq.codingCoordStr_2=c.1302C>T;refseq.codonCoord_1=479;refseq.codonCoord_2=434;refseq.end_1=10388715;refseq.end_2=10388715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1876;refseq.mrnaCoord_2=1741;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N479N;refseq.proteinCoordStr_2=p.N434N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=10388715;refseq.start_2=10388715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr3 10395087 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=24.51;MQ=96.97;MQ0=0;OQ=834.83;QD=9.94;RankSumP=0.0720097;SB=-108.99;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1050A>G;refseq.codingCoordStr_2=c.915A>G;refseq.codonCoord_1=350;refseq.codonCoord_2=305;refseq.end_1=10395087;refseq.end_2=10395087;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1489;refseq.mrnaCoord_2=1354;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q350Q;refseq.proteinCoordStr_2=p.Q305Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=10395087;refseq.start_2=10395087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr3 10418827 . G C 116.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=669.39;QD=13.95;RankSumP=0.277335;SB=-266.34;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.603C>G;refseq.codingCoordStr_2=c.603C>G;refseq.codonCoord_1=201;refseq.codonCoord_2=201;refseq.end_1=10418827;refseq.end_2=10418827;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1042;refseq.mrnaCoord_2=1042;refseq.name2_1=ATP2B2;refseq.name2_2=ATP2B2;refseq.name_1=NM_001001331;refseq.name_2=NM_001683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V201V;refseq.proteinCoordStr_2=p.V201V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=10418827;refseq.start_2=10418827;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr3 10942739 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=3.43;MQ=98.31;MQ0=0;OQ=1510.65;QD=14.39;RankSumP=0.0576929;SB=-703.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1170T>C;refseq.codonCoord=390;refseq.end=10942739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1204;refseq.name=NM_014229;refseq.name2=SLC6A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P390P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=50;refseq.start=10942739;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr3 10951744 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1605C>A;refseq.codonCoord=535;refseq.end=10951744;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1639;refseq.name=NM_014229;refseq.name2=SLC6A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y535*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=30;refseq.start=10951744;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr3 10951876 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.40;MQ0=0;OQ=469.82;QD=10.68;RankSumP=0.739494;SB=-136.77;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1737A>G;refseq.codonCoord=579;refseq.end=10951876;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1771;refseq.name=NM_014229;refseq.name2=SLC6A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T579T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=10951876;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr3 11035302 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.389C>G;refseq.codonCoord=130;refseq.end=11035302;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_003042;refseq.name2=SLC6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A130G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=19;refseq.start=11035302;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 11571302 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.79;MQ0=0;OQ=1482.73;QD=11.15;RankSumP=0.401907;SB=-660.79;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2016T>C;refseq.codingCoordStr_2=c.1857T>C;refseq.codingCoordStr_3=c.2097T>C;refseq.codonCoord_1=672;refseq.codonCoord_2=619;refseq.codonCoord_3=699;refseq.end_1=11571302;refseq.end_2=11571302;refseq.end_3=11571302;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2133;refseq.mrnaCoord_2=1974;refseq.mrnaCoord_3=2214;refseq.name2_1=ATG7;refseq.name2_2=ATG7;refseq.name2_3=ATG7;refseq.name_1=NM_001136031;refseq.name_2=NM_001144912;refseq.name_3=NM_006395;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D672D;refseq.proteinCoordStr_2=p.D619D;refseq.proteinCoordStr_3=p.D699D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=11571302;refseq.start_2=11571302;refseq.start_3=11571302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr3 11618465 . T C 312.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=2901.24;QD=39.74;RankSumP=1.00000;SB=-41.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.114A>G;refseq.codingCoordStr_2=c.96A>G;refseq.codonCoord_1=38;refseq.codonCoord_2=32;refseq.end_1=11618465;refseq.end_2=11618465;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=520;refseq.mrnaCoord_2=462;refseq.name2_1=VGLL4;refseq.name2_2=VGLL4;refseq.name_1=NM_001128219;refseq.name_2=NM_014667;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I38M;refseq.proteinCoordStr_2=p.I32M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=11618465;refseq.start_2=11618465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr3 11846215 . T C 198.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=99.00;MQ0=0;OQ=701.74;QD=17.99;RankSumP=0.356306;SB=-215.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.535A>G;refseq.codonCoord=179;refseq.end=11846215;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_138807;refseq.name2=C3orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.I179V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-28;refseq.start=11846215;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr3 11855760 . T C 141.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=1452.70;QD=14.24;RankSumP=0.184133;SB=-493.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.347A>G;refseq.codonCoord=116;refseq.end=11855760;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_138807;refseq.name2=C3orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.N116S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=29;refseq.start=11855760;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr3 11862991 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.73;MQ0=0;OQ=2096.31;QD=16.51;RankSumP=0.461202;SB=-928.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.120G>C;refseq.codonCoord=40;refseq.end=11862991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_138807;refseq.name2=C3orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.P40P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-16;refseq.start=11862991;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr3 12170058 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.632A>C;refseq.codonCoord_3=211;refseq.end_1=12178035;refseq.end_2=12178035;refseq.end_3=12170058;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=939;refseq.name2_1=SYN2;refseq.name2_2=SYN2;refseq.name2_3=TIMP4;refseq.name_1=NM_003178;refseq.name_2=NM_133625;refseq.name_3=NM_003256;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H211P;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAC;refseq.spliceDist_3=155;refseq.start_1=12167837;refseq.start_2=12167837;refseq.start_3=12170058;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr3 12170143 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.547T>G;refseq.codonCoord_3=183;refseq.end_1=12178035;refseq.end_2=12178035;refseq.end_3=12170143;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=854;refseq.name2_1=SYN2;refseq.name2_2=SYN2;refseq.name2_3=TIMP4;refseq.name_1=NM_003178;refseq.name_2=NM_133625;refseq.name_3=NM_003256;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L183V;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=TTG;refseq.spliceDist_3=70;refseq.start_1=12167837;refseq.start_2=12167837;refseq.start_3=12170143;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr3 12450557 . C T 281.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=3.76;MQ=98.85;MQ0=0;OQ=4090.52;QD=21.64;RankSumP=0.0138812;SB=-1179.16;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1347C>T;refseq.codingCoordStr_2=c.1431C>T;refseq.codingCoordStr_3=c.1347C>T;refseq.codingCoordStr_4=c.1347C>T;refseq.codonCoord_1=449;refseq.codonCoord_2=477;refseq.codonCoord_3=449;refseq.codonCoord_4=449;refseq.end_1=12450557;refseq.end_2=12450557;refseq.end_3=12450557;refseq.end_4=12450557;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1520;refseq.mrnaCoord_2=1522;refseq.mrnaCoord_3=1621;refseq.mrnaCoord_4=1594;refseq.name2_1=PPARG;refseq.name2_2=PPARG;refseq.name2_3=PPARG;refseq.name2_4=PPARG;refseq.name_1=NM_005037;refseq.name_2=NM_015869;refseq.name_3=NM_138711;refseq.name_4=NM_138712;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H449H;refseq.proteinCoordStr_2=p.H477H;refseq.proteinCoordStr_3=p.H449H;refseq.proteinCoordStr_4=p.H449H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=161;refseq.spliceDist_2=161;refseq.spliceDist_3=161;refseq.spliceDist_4=161;refseq.start_1=12450557;refseq.start_2=12450557;refseq.start_3=12450557;refseq.start_4=12450557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 0/1 chr3 12519829 . G A 254.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=6.96;MQ=98.80;MQ0=0;OQ=7006.09;QD=17.78;RankSumP=0.398180;SB=-2126.20;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_1=c.377G>A;refseq.codingCoordStr_2=c.377G>A;refseq.codingCoordStr_3=c.377G>A;refseq.codingCoordStr_4=c.377G>A;refseq.codingCoordStr_5=c.377G>A;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.codonCoord_3=126;refseq.codonCoord_4=126;refseq.codonCoord_5=126;refseq.end_1=12519829;refseq.end_2=12519829;refseq.end_3=12519829;refseq.end_4=12519829;refseq.end_5=12519829;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=512;refseq.mrnaCoord_2=480;refseq.mrnaCoord_3=480;refseq.mrnaCoord_4=764;refseq.mrnaCoord_5=764;refseq.name2_1=TSEN2;refseq.name2_2=TSEN2;refseq.name2_3=TSEN2;refseq.name2_4=TSEN2;refseq.name2_5=TSEN2;refseq.name_1=NM_001145392;refseq.name_2=NM_001145393;refseq.name_3=NM_001145394;refseq.name_4=NM_001145395;refseq.name_5=NM_025265;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R126H;refseq.proteinCoordStr_2=p.R126H;refseq.proteinCoordStr_3=p.R126H;refseq.proteinCoordStr_4=p.R126H;refseq.proteinCoordStr_5=p.R126H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.spliceDist_4=69;refseq.spliceDist_5=69;refseq.start_1=12519829;refseq.start_2=12519829;refseq.start_3=12519829;refseq.start_4=12519829;refseq.start_5=12519829;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=Intersection GT 1/0 chr3 12588866 . T C 282 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=98.56;MQ0=0;OQ=2276.48;QD=16.86;RankSumP=0.465112;SB=-704.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.636T>C;refseq.codonCoord=212;refseq.end=12588866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_014160;refseq.name2=MKRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H212H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=12588866;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr3 12829782 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.901A>C;refseq.codingCoordStr_2=c.622A>C;refseq.codonCoord_1=301;refseq.codonCoord_2=208;refseq.end_1=12829782;refseq.end_2=12829782;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=671;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T301P;refseq.proteinCoordStr_2=p.T208P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=12829782;refseq.start_2=12829782;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 12831856 . A G 197.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=3.61;MQ=98.78;MQ0=0;OQ=2424.54;QD=16.16;RankSumP=0.156894;SB=-769.51;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1223A>G;refseq.codingCoordStr_2=c.944A>G;refseq.codonCoord_1=408;refseq.codonCoord_2=315;refseq.end_1=12831856;refseq.end_2=12831856;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1272;refseq.mrnaCoord_2=993;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q408R;refseq.proteinCoordStr_2=p.Q315R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=12831856;refseq.start_2=12831856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr3 12832493 . C T 196.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=98.43;MQ0=0;OQ=2373.58;QD=16.04;RankSumP=0.388534;SB=-853.84;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1427C>T;refseq.codingCoordStr_2=c.1148C>T;refseq.codonCoord_1=476;refseq.codonCoord_2=383;refseq.end_1=12832493;refseq.end_2=12832493;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1476;refseq.mrnaCoord_2=1197;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P476L;refseq.proteinCoordStr_2=p.P383L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=12832493;refseq.start_2=12832493;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr3 12833028 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.60;MQ0=0;OQ=1487.99;QD=20.11;RankSumP=0.238820;SB=-525.36;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1597T>C;refseq.codingCoordStr_2=c.1318T>C;refseq.codonCoord_1=533;refseq.codonCoord_2=440;refseq.end_1=12833028;refseq.end_2=12833028;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1646;refseq.mrnaCoord_2=1367;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S533P;refseq.proteinCoordStr_2=p.S440P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.start_1=12833028;refseq.start_2=12833028;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr3 12834004 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=4.24;MQ=98.68;MQ0=0;OQ=879.87;QD=16.29;RankSumP=0.222314;SB=-364.84;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2573A>C;refseq.codingCoordStr_2=c.2294A>C;refseq.codonCoord_1=858;refseq.codonCoord_2=765;refseq.end_1=12834004;refseq.end_2=12834004;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2622;refseq.mrnaCoord_2=2343;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H858P;refseq.proteinCoordStr_2=p.H765P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-372;refseq.spliceDist_2=-372;refseq.start_1=12834004;refseq.start_2=12834004;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr3 12836586 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=2.19;MQ=98.40;MQ0=0;OQ=1667.85;QD=10.90;RankSumP=0.387839;SB=-480.09;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2946T>C;refseq.codingCoordStr_2=c.2667T>C;refseq.codonCoord_1=982;refseq.codonCoord_2=889;refseq.end_1=12836586;refseq.end_2=12836586;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2995;refseq.mrnaCoord_2=2716;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G982G;refseq.proteinCoordStr_2=p.G889G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=12836586;refseq.start_2=12836586;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr3 12836608 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=16.21;MQ=98.39;MQ0=0;OQ=2837.99;QD=12.45;RankSumP=0.293304;SB=-951.31;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2968G>A;refseq.codingCoordStr_2=c.2689G>A;refseq.codonCoord_1=990;refseq.codonCoord_2=897;refseq.end_1=12836608;refseq.end_2=12836608;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3017;refseq.mrnaCoord_2=2738;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V990I;refseq.proteinCoordStr_2=p.V897I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=12836608;refseq.start_2=12836608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr3 12850443 . G A 237.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=12.63;MQ=98.78;MQ0=0;OQ=12629.98;QD=40.35;RankSumP=1.00000;SB=-5768.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3673G>A;refseq.codingCoordStr_2=c.3322G>A;refseq.codonCoord_1=1225;refseq.codonCoord_2=1108;refseq.end_1=12850443;refseq.end_2=12850443;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3722;refseq.mrnaCoord_2=3371;refseq.name2_1=CAND2;refseq.name2_2=CAND2;refseq.name_1=NM_001162499;refseq.name_2=NM_012298;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1225T;refseq.proteinCoordStr_2=p.A1108T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=190;refseq.spliceDist_2=190;refseq.start_1=12850443;refseq.start_2=12850443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr3 12937074 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=1159.07;QD=12.46;RankSumP=0.265759;SB=-287.14;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1918C>T;refseq.codonCoord=640;refseq.end=12937074;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1927;refseq.name=NM_014869;refseq.name2=IQSEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P640S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=23;refseq.start=12937074;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 12952452 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.000886203;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1106A>G;refseq.codonCoord=369;refseq.end=12952452;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1115;refseq.name=NM_014869;refseq.name2=IQSEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E369G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-505;refseq.start=12952452;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 13343892 . G A 386.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.12;MQ0=0;OQ=1818.02;QD=39.52;RankSumP=1.00000;SB=-741.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4332C>T;refseq.codonCoord=1444;refseq.end=13343892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4415;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1444C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=46;refseq.start=13343892;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr3 13354400 . C T 242.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.43;MQ0=0;OQ=4925.80;QD=39.72;RankSumP=1.00000;SB=-2083.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3489G>A;refseq.codonCoord=1163;refseq.end=13354400;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3572;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1163E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=18;refseq.start=13354400;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr3 13358540 . A G 456.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=98.56;MQ0=0;OQ=6980.04;QD=40.82;RankSumP=1.00000;SB=-2743.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3048T>C;refseq.codonCoord=1016;refseq.end=13358540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3131;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1016F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-45;refseq.start=13358540;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr3 13370579 . C A 327.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.43;MQ0=0;OQ=1814.13;QD=36.28;RankSumP=1.00000;SB=-259.04;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2357G>T;refseq.codonCoord=786;refseq.end=13370579;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2440;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.R786L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=29;refseq.start=13370579;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 13374786 . G A 204.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=11.68;MQ=98.78;MQ0=0;OQ=7084.34;QD=37.29;RankSumP=1.00000;SB=-1952.38;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2264C>T;refseq.codonCoord=755;refseq.end=13374786;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2347;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.A755V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-65;refseq.start=13374786;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 13382556 . T C 426.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.33;MQ0=0;OQ=4264.09;QD=37.74;RankSumP=1.00000;SB=-1446.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1822A>G;refseq.codonCoord=608;refseq.end=13382556;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.I608V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=36;refseq.start=13382556;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr3 13396150 . C T 251.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=3.34;MQ=98.72;MQ0=0;OQ=2269.03;QD=36.60;RankSumP=1.00000;SB=-715.70;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.889G>A;refseq.codonCoord=297;refseq.end=13396150;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=972;refseq.name=NM_024923;refseq.name2=NUP210;refseq.positionType=CDS;refseq.proteinCoordStr=p.A297T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=72;refseq.start=13396150;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 13519445 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.461A>C;refseq.codingCoordStr_2=c.614A>C;refseq.codonCoord_1=154;refseq.codonCoord_2=205;refseq.end_1=13519445;refseq.end_2=13519445;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=646;refseq.mrnaCoord_2=747;refseq.name2_1=HDAC11;refseq.name2_2=HDAC11;refseq.name_1=NM_001136041;refseq.name_2=NM_024827;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N154T;refseq.proteinCoordStr_2=p.N205T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=13519445;refseq.start_2=13519445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr3 13871141 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=14.56;MQ=97.69;MQ0=0;OQ=1246.39;QD=8.20;RankSumP=0.0536839;SB=-519.72;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.459T>C;refseq.codonCoord=153;refseq.end=13871141;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_004625;refseq.name2=WNT7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S153S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-112;refseq.start=13871141;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 13871285 . C T 137.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=7.87;MQ=98.40;MQ0=0;OQ=1151.28;QD=13.71;RankSumP=0.329839;SB=-279.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.315G>A;refseq.codonCoord=105;refseq.end=13871285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_004625;refseq.name2=WNT7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A105A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=17;refseq.start=13871285;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr3 14150295 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.568T>G;refseq.codonCoord=190;refseq.end=14150295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_024334;refseq.name2=TMEM43;refseq.positionType=CDS;refseq.proteinCoordStr=p.F190V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-16;refseq.start=14150295;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr3 14460314 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.168C>G;refseq.codingCoordStr_2=c.168C>G;refseq.codingCoordStr_3=c.168C>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.end_1=14460314;refseq.end_2=14460314;refseq.end_3=14460314;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=471;refseq.mrnaCoord_3=471;refseq.name2_1=SLC6A6;refseq.name2_2=SLC6A6;refseq.name2_3=SLC6A6;refseq.name_1=NM_001134367;refseq.name_2=NM_001134368;refseq.name_3=NM_003043;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G56G;refseq.proteinCoordStr_2=p.G56G;refseq.proteinCoordStr_3=p.G56G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=14460314;refseq.start_2=14460314;refseq.start_3=14460314;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr3 14700871 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=3.73275e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.603C>A;refseq.codonCoord=201;refseq.end=14700871;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_032137;refseq.name2=C3orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y201*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-23;refseq.start=14700871;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr3 14720861 . G A 235.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=99.00;MQ0=0;OQ=3122.68;QD=14.94;RankSumP=0.105833;SB=-998.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.892G>A;refseq.codonCoord=298;refseq.end=14720861;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_032137;refseq.name2=C3orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.A298T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=14;refseq.start=14720861;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr3 14730576 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=13.99;MQ=98.82;MQ0=0;OQ=1714.63;QD=7.98;RankSumP=0.263328;SB=-809.61;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1219A>G;refseq.codonCoord=407;refseq.end=14730576;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1623;refseq.name=NM_032137;refseq.name2=C3orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.I407V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=59;refseq.start=14730576;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr3 14730621 . C G 253.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.95;MQ0=0;OQ=1730.07;QD=15.31;RankSumP=0.284335;SB=-836.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1264C>G;refseq.codonCoord=422;refseq.end=14730621;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1668;refseq.name=NM_032137;refseq.name2=C3orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.L422V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-50;refseq.start=14730621;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr3 15055700 . G A 137.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=98.91;MQ0=0;OQ=2498.25;QD=15.14;RankSumP=0.388978;SB=-1210.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1635G>A;refseq.codonCoord=545;refseq.end=15055700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1852;refseq.name=NM_003298;refseq.name2=NR2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q545Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-39;refseq.start=15055700;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 15286329 . A G 332.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.31;MQ0=0;OQ=2047.17;QD=35.92;RankSumP=1.00000;SB=-503.37;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.-82T>C;refseq.codingCoordStr_2=c.390T>C;refseq.codonCoord_2=130;refseq.end_1=15286329;refseq.end_2=15286329;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=492;refseq.mrnaCoord_2=579;refseq.name2_1=SH3BP5;refseq.name2_2=SH3BP5;refseq.name_1=NM_001018009;refseq.name_2=NM_004844;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R130R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=15286329;refseq.start_2=15286329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr3 16243978 . T A 290.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.63;MQ0=0;OQ=12958.85;QD=39.39;RankSumP=1.00000;SB=-6365.42;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1887T>A;refseq.codonCoord=629;refseq.end=16243978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2362;refseq.name=NM_054110;refseq.name2=GALNTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R629R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=114;refseq.start=16243978;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr3 16243990 . C A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=2;HaplotypeScore=11.48;MQ=98.70;MQ0=0;OQ=12322.84;QD=37.92;RankSumP=1.00000;SB=-5526.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1899C>A;refseq.codonCoord=633;refseq.end=16243990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2374;refseq.name=NM_054110;refseq.name2=GALNTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I633I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=126;refseq.start=16243990;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr3 16280678 . C G 108.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=12.45;MQ=98.55;MQ0=0;OQ=2551.02;QD=15.55;RankSumP=0.367394;SB=-585.62;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.171G>C;refseq.codonCoord_2=57;refseq.end_1=16281269;refseq.end_2=16280678;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=284;refseq.name2_1=DPH3;refseq.name2_2=DPH3;refseq.name_1=NM_001047434;refseq.name_2=NM_206831;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V57V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-13;refseq.start_1=16277351;refseq.start_2=16280678;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr3 16287568 . C T 267.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=16.15;MQ=98.56;MQ0=0;OQ=4629.88;QD=19.62;RankSumP=0.271863;SB=-1885.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.105C>T;refseq.codonCoord=35;refseq.end=16287568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_138381;refseq.name2=OXNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H35H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-15;refseq.start=16287568;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr3 16302859 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=9.67;MQ=98.78;MQ0=0;OQ=1509.50;QD=10.86;RankSumP=0.0579906;SB=-53.09;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.190T>G;refseq.codonCoord=64;refseq.end=16302859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_138381;refseq.name2=OXNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S64A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=16302859;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr3 16302913 . C T 169.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=98.74;MQ0=0;OQ=4612.14;QD=25.07;RankSumP=0.153317;SB=-1819.30;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.244C>T;refseq.codonCoord=82;refseq.end=16302913;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_138381;refseq.name2=OXNAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R82C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-47;refseq.start=16302913;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr3 16333588 . T C 164.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=5.54;MQ=98.79;MQ0=0;OQ=4876.86;QD=17.86;RankSumP=0.281814;SB=-1766.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1488A>G;refseq.codonCoord=496;refseq.end=16333588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1770;refseq.name=NM_015150;refseq.name2=RFTN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S496S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=156;refseq.start=16333588;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr3 16339923 . A C 322.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.47;MQ0=0;OQ=4519.06;QD=16.93;RankSumP=0.229913;SB=-1466.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1296T>G;refseq.codonCoord=432;refseq.end=16339923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_015150;refseq.name2=RFTN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P432P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-37;refseq.start=16339923;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr3 16339958 . C T 126.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.48;MQ0=0;OQ=3199.75;QD=14.54;RankSumP=0.324518;SB=-1166.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1261G>A;refseq.codonCoord=421;refseq.end=16339958;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_015150;refseq.name2=RFTN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V421I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=11;refseq.start=16339958;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr3 17027994 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1774T>G;refseq.codonCoord=592;refseq.end=17027994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2027;refseq.name=NM_015184;refseq.name2=PLCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F592V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-663;refseq.start=17027994;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr3 17028503 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=351;Dels=0.00;HRun=2;HaplotypeScore=13.23;MQ=98.63;MQ0=0;OQ=13300.44;QD=37.89;RankSumP=1.00000;SB=-4556.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2283A>G;refseq.codonCoord=761;refseq.end=17028503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2536;refseq.name=NM_015184;refseq.name2=PLCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G761G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-154;refseq.start=17028503;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr3 17183271 . T C 294.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=98.82;MQ0=0;OQ=5744.96;QD=15.49;RankSumP=0.250325;SB=-1592.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2086A>G;refseq.codingCoordStr_2=c.2152A>G;refseq.codingCoordStr_3=c.2086A>G;refseq.codonCoord_1=696;refseq.codonCoord_2=718;refseq.codonCoord_3=696;refseq.end_1=17183271;refseq.end_2=17183271;refseq.end_3=17183271;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2513;refseq.mrnaCoord_2=2416;refseq.mrnaCoord_3=3751;refseq.name2_1=TBC1D5;refseq.name2_2=TBC1D5;refseq.name2_3=TBC1D5;refseq.name_1=NM_001134380;refseq.name_2=NM_001134381;refseq.name_3=NM_014744;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I696V;refseq.proteinCoordStr_2=p.I718V;refseq.proteinCoordStr_3=p.I696V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=17183271;refseq.start_2=17183271;refseq.start_3=17183271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/0 chr3 18402928 . G T 254.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.61;MQ0=0;OQ=4188.34;QD=18.87;RankSumP=0.000661127;SB=-1411.86;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1386C>A;refseq.codingCoordStr_2=c.1386C>A;refseq.codonCoord_1=462;refseq.codonCoord_2=462;refseq.end_1=18402928;refseq.end_2=18402928;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1606;refseq.mrnaCoord_2=3121;refseq.name2_1=SATB1;refseq.name2_2=SATB1;refseq.name_1=NM_001131010;refseq.name_2=NM_002971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P462P;refseq.proteinCoordStr_2=p.P462P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=18402928;refseq.start_2=18402928;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=filterInsoap-gatk GT 0/1 chr3 19967436 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.33;MQ0=0;OQ=2977.28;QD=11.45;RankSumP=0.361117;SB=-1467.65;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.42G>T;refseq.codonCoord=14;refseq.end=19967436;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_004162;refseq.name2=RAB5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T14T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-122;refseq.start=19967436;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr3 21437758 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=2;HaplotypeScore=12.62;MQ=98.54;MQ0=0;OQ=1973.57;QD=16.18;RankSumP=0.251195;SB=-762.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1140T>C;refseq.codonCoord=380;refseq.end=21437758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1548;refseq.name=NM_024697;refseq.name2=ZNF385D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P380P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=186;refseq.start=21437758;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr3 21437791 . G A 129.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.81;MQ0=0;OQ=1524.19;QD=16.21;RankSumP=0.315334;SB=-494.02;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1107C>T;refseq.codonCoord=369;refseq.end=21437791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_024697;refseq.name2=ZNF385D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S369S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=153;refseq.start=21437791;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 23823839 . A C 148.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=98.33;MQ0=0;OQ=2206.13;QD=19.88;RankSumP=0.149935;SB=-458.91;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.75A>C;refseq.codingCoordStr_2=c.75A>C;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=23823839;refseq.end_2=23823839;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=249;refseq.mrnaCoord_2=249;refseq.name2_1=UBE2E1;refseq.name2_2=UBE2E1;refseq.name_1=NM_003341;refseq.name_2=NM_182666;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E25D;refseq.proteinCoordStr_2=p.E25D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.start_1=23823839;refseq.start_2=23823839;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr3 23981481 . T A 292.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=319;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.93;MQ0=0;OQ=13294.00;QD=41.67;RankSumP=1.00000;SB=-3198.23;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.931T>A;refseq.codingCoordStr_2=c.1156T>A;refseq.codonCoord_1=311;refseq.codonCoord_2=386;refseq.end_1=23981481;refseq.end_2=23981481;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1273;refseq.mrnaCoord_2=1475;refseq.name2_1=NR1D2;refseq.name2_2=NR1D2;refseq.name_1=NM_001145425;refseq.name_2=NM_005126;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L311M;refseq.proteinCoordStr_2=p.L386M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=23981481;refseq.start_2=23981481;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr3 25752568 . G T 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=112;Dels=0.00;HRun=2;HaplotypeScore=10.52;MQ=97.47;MQ0=0;OQ=149.71;QD=1.34;RankSumP=0.00000;SB=119.41;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.954C>A;refseq.codingCoordStr_3=c.1080C>A;refseq.codingCoordStr_4=c.1080C>A;refseq.codonCoord_2=318;refseq.codonCoord_3=360;refseq.codonCoord_4=360;refseq.end_1=25752793;refseq.end_2=25752568;refseq.end_3=25752568;refseq.end_4=25752568;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1128;refseq.mrnaCoord_3=1188;refseq.mrnaCoord_4=1188;refseq.name2_1=NGLY1;refseq.name2_2=NGLY1;refseq.name2_3=NGLY1;refseq.name2_4=NGLY1;refseq.name_1=NM_001145293;refseq.name_2=NM_001145294;refseq.name_3=NM_001145295;refseq.name_4=NM_018297;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D318E;refseq.proteinCoordStr_3=p.D360E;refseq.proteinCoordStr_4=p.D360E;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_2=-70;refseq.spliceDist_3=-70;refseq.spliceDist_4=-70;refseq.start_1=25750488;refseq.start_2=25752568;refseq.start_3=25752568;refseq.start_4=25752568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=FilteredInAll GT 0/1 chr3 27219049 . G A 298.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.88;MQ0=0;OQ=2726.86;QD=17.26;RankSumP=0.0323355;SB=-1053.17;SecondBestBaseQ=33;set=Intersection GT 1/0 chr3 27272820 . G C 132.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.63;MQ0=0;OQ=4271.86;QD=25.58;RankSumP=0.469579;SB=-1707.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2061C>G;refseq.codonCoord=687;refseq.end=27272820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2335;refseq.name=NM_199347;refseq.name2=NEK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T687T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-30;refseq.start=27272820;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr3 27399722 . A G 302.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=8.30;MQ=98.81;MQ0=0;OQ=16300.74;QD=38.18;RankSumP=1.00000;SB=-5153.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3489T>C;refseq.codonCoord=1163;refseq.end=27399722;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3560;refseq.name=NM_003615;refseq.name2=SLC4A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1163D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=24;refseq.start=27399722;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr3 27738436 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.354T>C;refseq.codonCoord=118;refseq.end=27738436;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_005442;refseq.name2=EOMES;refseq.positionType=CDS;refseq.proteinCoordStr=p.A118A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=354;refseq.start=27738436;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr3 30817562 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.38;MQ0=0;OQ=2687.55;QD=22.78;RankSumP=0.491962;SB=-640.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1073C>G;refseq.codonCoord=358;refseq.end=30817562;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_207359;refseq.name2=GADL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S358C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=23;refseq.start=30817562;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr3 31592970 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.393G>T;refseq.codonCoord=131;refseq.end=31592970;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_178862;refseq.name2=STT3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W131C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-31;refseq.start=31592970;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr3 31634462 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.00000;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1150T>G;refseq.codonCoord=384;refseq.end=31634462;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1150;refseq.name=NM_178862;refseq.name2=STT3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F384V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-23;refseq.start=31634462;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr3 31764586 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=13.01;MQ=98.63;MQ0=0;OQ=2629.48;QD=38.11;RankSumP=1.00000;SB=-888.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.568A>G;refseq.codingCoordStr_2=c.760A>G;refseq.codonCoord_1=190;refseq.codonCoord_2=254;refseq.end_1=31764586;refseq.end_2=31764586;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1239;refseq.mrnaCoord_2=1431;refseq.name2_1=OSBPL10;refseq.name2_2=OSBPL10;refseq.name_1=NM_001174060;refseq.name_2=NM_017784;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N190D;refseq.proteinCoordStr_2=p.N254D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=31764586;refseq.start_2=31764586;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr3 32508250 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=11.15;MQ=98.88;MQ0=0;OQ=2377.16;QD=11.83;RankSumP=0.357396;SB=-966.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.271A>G;refseq.codonCoord=91;refseq.end=32508250;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_017801;refseq.name2=CMTM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-45;refseq.start=32508250;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr3 32553509 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=3.83;MQ=98.80;MQ0=0;OQ=1778.40;QD=12.98;RankSumP=0.281347;SB=-361.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.830A>G;refseq.codonCoord=277;refseq.end=32553509;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_016141;refseq.name2=DYNC1LI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q277R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=32553509;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr3 32725268 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.02955e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.382G>A;refseq.codonCoord=128;refseq.end=32725268;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_015442;refseq.name2=CNOT10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E128K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-49;refseq.start=32725268;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr3 32902513 . G T 219.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.27;MQ0=0;OQ=6526.28;QD=35.28;RankSumP=1.00000;SB=-1918.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1104G>T;refseq.codonCoord=368;refseq.end=32902513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1167;refseq.name=NM_001039111;refseq.name2=TRIM71;refseq.positionType=CDS;refseq.proteinCoordStr=p.T368T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-52;refseq.start=32902513;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr3 32970415 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.497T>G;refseq.codonCoord=166;refseq.end=32970415;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_005508;refseq.name2=CCR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V166G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=548;refseq.start=32970415;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 32970932 . C T 130.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1762.12;QD=17.98;RankSumP=0.410889;SB=-699.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1014C>T;refseq.codonCoord=338;refseq.end=32970932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_005508;refseq.name2=CCR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y338Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-476;refseq.start=32970932;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr3 33030725 . A G 399.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.77;MQ0=0;OQ=6386.26;QD=35.09;RankSumP=1.00000;SB=-1697.98;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1561T>C;refseq.codingCoordStr_2=c.1471T>C;refseq.codingCoordStr_3=c.1168T>C;refseq.codonCoord_1=521;refseq.codonCoord_2=491;refseq.codonCoord_3=390;refseq.end_1=33030725;refseq.end_2=33030725;refseq.end_3=33030725;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1678;refseq.mrnaCoord_2=1590;refseq.mrnaCoord_3=1285;refseq.name2_1=GLB1;refseq.name2_2=GLB1;refseq.name2_3=GLB1;refseq.name_1=NM_000404;refseq.name_2=NM_001079811;refseq.name_3=NM_001135602;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C521R;refseq.proteinCoordStr_2=p.C491R;refseq.proteinCoordStr_3=p.C390R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.start_1=33030725;refseq.start_2=33030725;refseq.start_3=33030725;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/1 chr3 33113548 . A G 360.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.18;MQ0=0;OQ=4320.68;QD=38.24;RankSumP=1.00000;SB=-2131.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.34T>C;refseq.codingCoordStr_2=c.34T>C;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=33113548;refseq.end_2=33113548;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=151;refseq.mrnaCoord_2=151;refseq.name2_1=GLB1;refseq.name2_2=GLB1;refseq.name_1=NM_000404;refseq.name_2=NM_001135602;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L12L;refseq.proteinCoordStr_2=p.L12L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=33113548;refseq.start_2=33113548;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr3 33113553 . G A 330.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.19;MQ0=0;OQ=4422.63;QD=38.80;RankSumP=1.00000;SB=-2118.09;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.29C>T;refseq.codingCoordStr_2=c.29C>T;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.end_1=33113553;refseq.end_2=33113553;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=146;refseq.mrnaCoord_2=146;refseq.name2_1=GLB1;refseq.name2_2=GLB1;refseq.name_1=NM_000404;refseq.name_2=NM_001135602;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P10L;refseq.proteinCoordStr_2=p.P10L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=33113553;refseq.start_2=33113553;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr3 33149160 . T G 103.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.61;MQ0=0;OQ=3148.81;QD=12.06;RankSumP=0.152903;SB=-1550.88;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1032T>G;refseq.codonCoord=344;refseq.end=33149160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1152;refseq.name=NM_006371;refseq.name2=CRTAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T344T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-37;refseq.start=33149160;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr3 33149172 . G A 216.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.61;MQ0=0;OQ=4518.73;QD=17.31;RankSumP=0.220669;SB=-1780.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1044G>A;refseq.codonCoord=348;refseq.end=33149172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_006371;refseq.name2=CRTAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S348S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-25;refseq.start=33149172;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 33409835 . G A 327.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=98.35;MQ0=0;OQ=9231.77;QD=43.34;RankSumP=1.00000;SB=-4228.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1398C>T;refseq.codingCoordStr_2=c.1506C>T;refseq.codingCoordStr_3=c.1506C>T;refseq.codonCoord_1=466;refseq.codonCoord_2=502;refseq.codonCoord_3=502;refseq.end_1=33409835;refseq.end_2=33409835;refseq.end_3=33409835;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1928;refseq.mrnaCoord_2=1655;refseq.mrnaCoord_3=2036;refseq.name2_1=UBP1;refseq.name2_2=UBP1;refseq.name2_3=UBP1;refseq.name_1=NM_001128160;refseq.name_2=NM_001128161;refseq.name_3=NM_014517;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T466T;refseq.proteinCoordStr_2=p.T502T;refseq.proteinCoordStr_3=p.T502T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=33409835;refseq.start_2=33409835;refseq.start_3=33409835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/1 chr3 33433270 . T C 349.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=11.45;MQ=98.82;MQ0=0;OQ=6046.17;QD=19.07;RankSumP=0.428485;SB=-1945.77;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.326A>G;refseq.codingCoordStr_2=c.326A>G;refseq.codingCoordStr_3=c.326A>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.end_1=33433270;refseq.end_2=33433270;refseq.end_3=33433270;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=856;refseq.mrnaCoord_2=475;refseq.mrnaCoord_3=856;refseq.name2_1=UBP1;refseq.name2_2=UBP1;refseq.name2_3=UBP1;refseq.name_1=NM_001128160;refseq.name_2=NM_001128161;refseq.name_3=NM_014517;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N109S;refseq.proteinCoordStr_2=p.N109S;refseq.proteinCoordStr_3=p.N109S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=33433270;refseq.start_2=33433270;refseq.start_3=33433270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr3 33854774 . G A 348.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=8.18;MQ=93.04;MQ0=12;OQ=5999.83;QD=18.02;RankSumP=0.0864063;SB=-2458.17;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1147G>A;refseq.codingCoordStr_3=c.1132G>A;refseq.codonCoord_2=383;refseq.codonCoord_3=378;refseq.end_1=33854774;refseq.end_2=33854774;refseq.end_3=33854774;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=1302;refseq.mrnaCoord_3=1287;refseq.name2_1=PDCD6IP;refseq.name2_2=PDCD6IP;refseq.name2_3=PDCD6IP;refseq.name_1=NR_027867;refseq.name_2=NM_001162429;refseq.name_3=NM_013374;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V383I;refseq.proteinCoordStr_3=p.V378I;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=33854774;refseq.start_2=33854774;refseq.start_3=33854774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr3 33858570 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.739422;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1374G>A;refseq.codingCoordStr_3=c.1359G>A;refseq.codonCoord_2=458;refseq.codonCoord_3=453;refseq.end_1=33858570;refseq.end_2=33858570;refseq.end_3=33858570;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=857;refseq.mrnaCoord_2=1529;refseq.mrnaCoord_3=1514;refseq.name2_1=PDCD6IP;refseq.name2_2=PDCD6IP;refseq.name2_3=PDCD6IP;refseq.name_1=NR_027867;refseq.name_2=NM_001162429;refseq.name_3=NM_013374;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E458E;refseq.proteinCoordStr_3=p.E453E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.start_1=33858570;refseq.start_2=33858570;refseq.start_3=33858570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 1/0 chr3 35700254 . C T 126.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=99.00;MQ0=0;OQ=882.13;QD=13.37;RankSumP=0.0650700;SB=-217.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.204C>T;refseq.codingCoordStr_2=c.204C>T;refseq.codingCoordStr_3=c.204C>T;refseq.codingCoordStr_4=c.204C>T;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.codonCoord_4=68;refseq.end_1=35700254;refseq.end_2=35700254;refseq.end_3=35700254;refseq.end_4=35700254;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=485;refseq.mrnaCoord_2=494;refseq.mrnaCoord_3=468;refseq.mrnaCoord_4=476;refseq.name2_1=ARPP21;refseq.name2_2=ARPP21;refseq.name2_3=ARPP21;refseq.name2_4=ARPP21;refseq.name_1=NM_001025068;refseq.name_2=NM_001025069;refseq.name_3=NM_016300;refseq.name_4=NM_198399;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S68S;refseq.proteinCoordStr_2=p.S68S;refseq.proteinCoordStr_3=p.S68S;refseq.proteinCoordStr_4=p.S68S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=35700254;refseq.start_2=35700254;refseq.start_3=35700254;refseq.start_4=35700254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr3 35753777 . A G 134 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=9.64;MQ=91.94;MQ0=0;OQ=977.63;QD=20.80;RankSumP=1.00000;SB=-286.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1563A>G;refseq.codonCoord=521;refseq.end=35753777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1827;refseq.name=NM_016300;refseq.name2=ARPP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.P521P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-82;refseq.start=35753777;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr3 36754711 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=477;Dels=0.00;HRun=1;HaplotypeScore=16.08;MQ=98.79;MQ0=0;OQ=10664.84;QD=22.36;RankSumP=0.102555;SB=-4239.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.444C>T;refseq.codonCoord=148;refseq.end=36754711;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_033403;refseq.name2=DCLK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=869;refseq.start=36754711;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr3 37549955 . G A 110.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.73;MQ0=0;OQ=2648.67;QD=14.55;RankSumP=0.157958;SB=-669.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1520G>A;refseq.codonCoord=507;refseq.end=37549955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1573;refseq.name=NM_002207;refseq.name2=ITGA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G507E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=37549955;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr3 38018090 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr=chr3;refseq.codingCoordStr=c.1320+2;refseq.end=38018090;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_015873;refseq.name2=VILL;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=38018090;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr3 38020855 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=194;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=98.82;MQ0=0;OQ=2012.95;QD=10.38;RankSumP=0.288884;SB=-933.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1911G>A;refseq.codonCoord=637;refseq.end=38020855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1997;refseq.name=NM_015873;refseq.name2=VILL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L637L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-40;refseq.start=38020855;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr3 38101810 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1303A>C;refseq.codingCoordStr_2=c.1303A>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=38101810;refseq.end_2=38101810;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1324;refseq.name2_1=DLEC1;refseq.name2_2=DLEC1;refseq.name_1=NM_007335;refseq.name_2=NM_007337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T435P;refseq.proteinCoordStr_2=p.T435P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=38101810;refseq.start_2=38101810;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 38126769 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.10304e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3436A>C;refseq.codingCoordStr_2=c.3436A>C;refseq.codonCoord_1=1146;refseq.codonCoord_2=1146;refseq.end_1=38126769;refseq.end_2=38126769;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3457;refseq.mrnaCoord_2=3457;refseq.name2_1=DLEC1;refseq.name2_2=DLEC1;refseq.name_1=NM_007335;refseq.name_2=NM_007337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1146P;refseq.proteinCoordStr_2=p.T1146P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=38126769;refseq.start_2=38126769;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 38133002 . T G 91 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=101;Dels=0.00;HRun=2;HaplotypeScore=10.08;MQ=97.08;MQ0=0;QD=0.37;RankSumP=7.68877e-09;SB=113.36;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3911T>G;refseq.codingCoordStr_2=c.3911T>G;refseq.codonCoord_1=1304;refseq.codonCoord_2=1304;refseq.end_1=38133002;refseq.end_2=38133002;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3932;refseq.mrnaCoord_2=3932;refseq.name2_1=DLEC1;refseq.name2_2=DLEC1;refseq.name_1=NM_007335;refseq.name_2=NM_007337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1304G;refseq.proteinCoordStr_2=p.V1304G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=38133002;refseq.start_2=38133002;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 38142694 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.960A>C;refseq.codonCoord_3=320;refseq.end_1=38142994;refseq.end_2=38142694;refseq.end_3=38142694;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1292;refseq.mrnaCoord_3=1167;refseq.name2_1=ACAA1;refseq.name2_2=ACAA1;refseq.name2_3=ACAA1;refseq.name_1=NM_001130410;refseq.name_2=NR_024024;refseq.name_3=NM_001607;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G320G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=38142387;refseq.start_2=38142694;refseq.start_3=38142694;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr3 38291215 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=1.44120e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.599C>A;refseq.codonCoord=200;refseq.end=38291215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_004256;refseq.name2=SLC22A13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T200N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-39;refseq.start=38291215;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr3 38292812 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1268T>G;refseq.codonCoord=423;refseq.end=38292812;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1322;refseq.name=NM_004256;refseq.name2=SLC22A13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V423G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=31;refseq.start=38292812;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 38325483 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=978;Dels=0.00;HRun=0;HaplotypeScore=17.88;MQ=98.62;MQ0=0;OQ=35294.23;QD=36.09;RankSumP=1.00000;SB=-16114.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.810T>C;refseq.codonCoord=270;refseq.end=38325483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.H270H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=35;refseq.start=38325483;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/1 chr3 38325523 . G A 162.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=617;Dels=0.00;HRun=0;HaplotypeScore=15.10;MQ=98.56;MQ0=0;OQ=23618.10;QD=38.28;RankSumP=1.00000;SB=-6984.20;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=38325523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V284M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=75;refseq.start=38325523;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr3 38325547 . A G 178.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=432;Dels=0.00;HRun=1;HaplotypeScore=7.92;MQ=98.12;MQ0=0;OQ=15677.98;QD=36.29;RankSumP=1.00000;SB=-5156.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.874A>G;refseq.codonCoord=292;refseq.end=38325547;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S292G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-71;refseq.start=38325547;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr3 38330229 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=320;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=98.73;MQ0=0;OQ=5782.57;QD=18.07;RankSumP=0.483875;SB=-956.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1171G>A;refseq.codonCoord=391;refseq.end=38330229;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1244;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V391I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=38330229;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr3 38332821 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=98.47;MQ0=0;OQ=2192.31;QD=10.69;RankSumP=0.193379;SB=-842.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1535C>T;refseq.codonCoord=512;refseq.end=38332821;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1608;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A512V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=38332821;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr3 38332965 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=3.82;MQ=98.61;MQ0=0;OQ=2336.92;QD=17.31;RankSumP=0.264446;SB=-878.58;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1679C>G;refseq.codonCoord=560;refseq.end=38332965;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1752;refseq.name=NM_004803;refseq.name2=SLC22A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P560R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-55;refseq.start=38332965;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr3 38376843 . T C 132.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=656;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.86;MQ0=0;OQ=25364.30;QD=38.67;RankSumP=1.00000;SB=-9258.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.150T>C;refseq.codonCoord=50;refseq.end=38376843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_005108;refseq.name2=XYLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G50G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=38376843;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 38379476 . C A 228.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.77;MQ0=0;OQ=2626.54;QD=17.99;RankSumP=0.179620;SB=-1148.54;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.255C>A;refseq.codonCoord=85;refseq.end=38379476;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_005108;refseq.name2=XYLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D85E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-37;refseq.start=38379476;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr3 38381777 . G T 279.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=4.42;MQ=98.12;MQ0=0;OQ=7191.94;QD=36.32;RankSumP=1.00000;SB=-1518.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.375G>T;refseq.codonCoord=125;refseq.end=38381777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_005108;refseq.name2=XYLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L125L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=38381777;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 38383365 . G A 370.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.88;MQ0=0;OQ=9891.13;QD=43.57;RankSumP=1.00000;SB=-3697.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.570G>A;refseq.codonCoord=190;refseq.end=38383365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_005108;refseq.name2=XYLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T190T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=38383365;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr3 38494428 . A G 160.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.73;MQ0=0;OQ=1819.70;QD=13.00;RankSumP=0.160118;SB=-682.79;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.333A>G;refseq.codonCoord=111;refseq.end=38494428;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_001106;refseq.name2=ACVR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E111E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-38;refseq.start=38494428;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr3 38499746 . C T 311.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=98.96;MQ0=0;OQ=4403.27;QD=18.66;RankSumP=0.0918246;SB=-1084.46;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1458C>T;refseq.codonCoord=486;refseq.end=38499746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_001106;refseq.name2=ACVR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N486N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=114;refseq.start=38499746;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr3 38714578 . T C 154.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.21;MQ0=0;OQ=15193.45;QD=38.17;RankSumP=1.00000;SB=-7451.29;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5137A>G;refseq.codonCoord=1713;refseq.end=38714578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5137;refseq.name=NM_006514;refseq.name2=SCN10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1713V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=480;refseq.start=38714578;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 38714849 . A G 331.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.02;MQ0=1;OQ=5263.49;QD=40.18;RankSumP=1.00000;SB=-2391.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4866T>C;refseq.codonCoord=1622;refseq.end=38714849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4866;refseq.name=NM_006514;refseq.name2=SCN10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1622S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=209;refseq.start=38714849;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr3 38741679 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=332;Dels=0.00;HRun=3;HaplotypeScore=6.85;MQ=98.75;MQ0=0;OQ=6078.85;QD=18.31;RankSumP=0.0220271;SB=-2427.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3218T>C;refseq.codonCoord=1073;refseq.end=38741679;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3218;refseq.name=NM_006514;refseq.name2=SCN10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1073A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-11;refseq.start=38741679;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr3 38888174 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3525A>C;refseq.codonCoord=1175;refseq.end=38888174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3724;refseq.name=NM_014139;refseq.name2=SCN11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1175I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=30;refseq.start=38888174;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr3 38920564 . A G 439.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.34;MQ0=0;OQ=9012.05;QD=38.68;RankSumP=1.00000;SB=-2475.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1638T>C;refseq.codonCoord=546;refseq.end=38920564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1837;refseq.name=NM_014139;refseq.name2=SCN11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C546C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=35;refseq.start=38920564;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 39079635 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=2.81648e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.139A>C;refseq.codonCoord=47;refseq.end=39079635;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_020839;refseq.name2=WDR48;refseq.positionType=CDS;refseq.proteinCoordStr=p.T47P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-51;refseq.start=39079635;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 39137677 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.963T>G;refseq.codingCoordStr_2=c.1110T>G;refseq.codonCoord_1=321;refseq.codonCoord_2=370;refseq.end_1=39137677;refseq.end_2=39137677;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1140;refseq.mrnaCoord_2=1287;refseq.name2_1=TTC21A;refseq.name2_2=TTC21A;refseq.name_1=NM_001105513;refseq.name_2=NM_145755;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G321G;refseq.proteinCoordStr_2=p.G370G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=39137677;refseq.start_2=39137677;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 39154871 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3662A>C;refseq.codingCoordStr_2=c.3806A>C;refseq.codonCoord_1=1221;refseq.codonCoord_2=1269;refseq.end_1=39154871;refseq.end_2=39154871;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3839;refseq.mrnaCoord_2=3983;refseq.name2_1=TTC21A;refseq.name2_2=TTC21A;refseq.name_1=NM_001105513;refseq.name_2=NM_145755;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1221T;refseq.proteinCoordStr_2=p.N1269T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=39154871;refseq.start_2=39154871;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr3 39155103 . T C 267.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=98.79;MQ0=0;OQ=11373.64;QD=37.54;RankSumP=1.00000;SB=-5384.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3726T>C;refseq.codingCoordStr_2=c.3870T>C;refseq.codonCoord_1=1242;refseq.codonCoord_2=1290;refseq.end_1=39155103;refseq.end_2=39155103;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3903;refseq.mrnaCoord_2=4047;refseq.name2_1=TTC21A;refseq.name2_2=TTC21A;refseq.name_1=NM_001105513;refseq.name_2=NM_145755;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1242I;refseq.proteinCoordStr_2=p.I1290I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=39155103;refseq.start_2=39155103;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr3 39155267 . G A 77.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=3216.83;QD=40.72;RankSumP=1.00000;SB=-1347.70;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3803G>A;refseq.codingCoordStr_2=c.3947G>A;refseq.codonCoord_1=1268;refseq.codonCoord_2=1316;refseq.end_1=39155267;refseq.end_2=39155267;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3980;refseq.mrnaCoord_2=4124;refseq.name2_1=TTC21A;refseq.name2_2=TTC21A;refseq.name_1=NM_001105513;refseq.name_2=NM_145755;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1268K;refseq.proteinCoordStr_2=p.R1316K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=39155267;refseq.start_2=39155267;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr3 39159963 . C T 466.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=6254.58;QD=39.34;RankSumP=1.00000;SB=-2304.97;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1357G>A;refseq.codonCoord=453;refseq.end=39159963;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1571;refseq.name=NM_033027;refseq.name2=CSRNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V453I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=577;refseq.start=39159963;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr3 39160081 . G A 385.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.93;MQ0=0;OQ=7578.99;QD=39.89;RankSumP=1.00000;SB=-3444.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1239C>T;refseq.codonCoord=413;refseq.end=39160081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1453;refseq.name=NM_033027;refseq.name2=CSRNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S413S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=459;refseq.start=39160081;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr3 39160252 . A G 351 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.33;MQ0=0;OQ=5713.37;QD=40.23;RankSumP=1.00000;SB=-2571.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1068T>C;refseq.codonCoord=356;refseq.end=39160252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_033027;refseq.name2=CSRNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S356S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=288;refseq.start=39160252;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr3 39160842 . A C 26.37 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=198;Dels=0.00;HRun=2;HaplotypeScore=28.94;MQ=95.82;MQ0=0;QD=0.13;RankSumP=0.00000;SB=158.53;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.570T>G;refseq.codonCoord=190;refseq.end=39160842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_033027;refseq.name2=CSRNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=105;refseq.start=39160842;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 39161732 . C T 109.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=1114.03;QD=14.85;RankSumP=0.0943798;SB=-570.53;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.225G>A;refseq.codonCoord=75;refseq.end=39161732;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_033027;refseq.name2=CSRNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R75R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=20;refseq.start=39161732;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr3 39201131 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1245;Dels=0.00;HRun=0;HaplotypeScore=26.94;MQ=98.85;MQ0=0;OQ=22503.58;QD=18.08;RankSumP=0.189039;SB=-7691.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4810G>A;refseq.codonCoord=1604;refseq.end=39201131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5031;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1604R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-1421;refseq.start=39201131;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr3 39202668 . G A 167.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.77;MQ0=0;OQ=2940.66;QD=17.30;RankSumP=0.363534;SB=-1021.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3273C>T;refseq.codonCoord=1091;refseq.end=39202668;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3494;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1091D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-2958;refseq.start=39202668;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr3 39202694 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3247A>C;refseq.codonCoord=1083;refseq.end=39202694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3468;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1083P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-2984;refseq.start=39202694;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 39203047 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=3;HaplotypeScore=2.08;MQ=99.00;MQ0=0;OQ=1227.09;QD=10.31;RankSumP=0.216927;SB=-611.33;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2894A>C;refseq.codonCoord=965;refseq.end=39203047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3115;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H965P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=2974;refseq.start=39203047;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr3 39204904 . T C 301.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.98;MQ0=0;OQ=3463.17;QD=37.64;RankSumP=1.00000;SB=-1383.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1037A>G;refseq.codonCoord=346;refseq.end=39204904;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1258;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q346R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1117;refseq.start=39204904;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr3 39205846 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=2.12106e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.95A>C;refseq.codonCoord=32;refseq.end=39205846;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_194293;refseq.name2=XIRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D32A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=175;refseq.start=39205846;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr3 39282260 . C T 197.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.77;MQ0=0;OQ=1238.40;QD=16.29;RankSumP=0.497843;SB=-344.86;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.745G>A;refseq.codingCoordStr_2=c.745G>A;refseq.codingCoordStr_3=c.841G>A;refseq.codingCoordStr_4=c.745G>A;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.codonCoord_3=281;refseq.codonCoord_4=249;refseq.end_1=39282260;refseq.end_2=39282260;refseq.end_3=39282260;refseq.end_4=39282260;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=945;refseq.mrnaCoord_3=881;refseq.mrnaCoord_4=837;refseq.name2_1=CX3CR1;refseq.name2_2=CX3CR1;refseq.name2_3=CX3CR1;refseq.name2_4=CX3CR1;refseq.name_1=NM_001171171;refseq.name_2=NM_001171172;refseq.name_3=NM_001171174;refseq.name_4=NM_001337;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V249I;refseq.proteinCoordStr_2=p.V249I;refseq.proteinCoordStr_3=p.V281I;refseq.proteinCoordStr_4=p.V249I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=754;refseq.spliceDist_2=754;refseq.spliceDist_3=754;refseq.spliceDist_4=754;refseq.start_1=39282260;refseq.start_2=39282260;refseq.start_3=39282260;refseq.start_4=39282260;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr3 39348906 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=685;Dels=0.00;HRun=2;HaplotypeScore=11.71;MQ=98.87;MQ0=0;OQ=14654.25;QD=21.39;RankSumP=0.321519;SB=-6239.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.80C>G;refseq.codonCoord=27;refseq.end=39348906;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_005201;refseq.name2=CCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A27G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=94;refseq.start=39348906;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr3 39349320 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.494C>A;refseq.codonCoord=165;refseq.end=39349320;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_005201;refseq.name2=CCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T165N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=508;refseq.start=39349320;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr3 39406085 . G A 326.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=95.80;MQ0=3;OQ=4636.50;QD=21.57;RankSumP=0.304122;SB=-1977.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.165G>A;refseq.codonCoord=55;refseq.end=39406085;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_017875;refseq.name2=SLC25A38;refseq.positionType=CDS;refseq.proteinCoordStr=p.L55L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-27;refseq.start=39406085;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr3 40206387 . C T 212.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=98.44;MQ0=0;OQ=4507.09;QD=20.87;RankSumP=0.000174197;SB=-1182.30;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1094C>T;refseq.codonCoord=365;refseq.end=40206387;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1229;refseq.name=NM_015460;refseq.name2=MYRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P365L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=67;refseq.start=40206387;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 0/1 chr3 40206887 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.52;MQ0=0;OQ=347.30;QD=13.36;RankSumP=0.100256;SB=-80.28;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1594C>T;refseq.codonCoord=532;refseq.end=40206887;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1729;refseq.name=NM_015460;refseq.name2=MYRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L532L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-72;refseq.start=40206887;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr3 40226396 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=462;Dels=0.00;HRun=4;HaplotypeScore=2.21;MQ=98.90;MQ0=0;OQ=8715.93;QD=18.87;RankSumP=0.497629;SB=-2776.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1713T>C;refseq.codonCoord=571;refseq.end=40226396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1848;refseq.name=NM_015460;refseq.name2=MYRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D571D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=48;refseq.start=40226396;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr3 40250465 . C T 196.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.95;MQ0=0;OQ=4394.54;QD=21.23;RankSumP=0.0510224;SB=-1527.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2017C>T;refseq.codonCoord=673;refseq.end=40250465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2152;refseq.name=NM_015460;refseq.name2=MYRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P673S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-84;refseq.start=40250465;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr3 40261021 . T C 198.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.91;MQ0=0;OQ=3084.73;QD=14.22;RankSumP=0.335844;SB=-1387.19;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2181T>C;refseq.codonCoord=727;refseq.end=40261021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2316;refseq.name=NM_015460;refseq.name2=MYRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S727S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=81;refseq.start=40261021;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr3 40478522 . G C 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.505536;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.443G>C;refseq.codingCoordStr_2=c.443G>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=40478522;refseq.end_2=40478522;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=576;refseq.mrnaCoord_2=494;refseq.name2_1=RPL14;refseq.name2_2=RPL14;refseq.name_1=NM_001034996;refseq.name_2=NM_003973;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G148A;refseq.proteinCoordStr_2=p.G148A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.start_1=40478522;refseq.start_2=40478522;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 0/1 chr3 40478524 . A G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.123377;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.445A>G;refseq.codingCoordStr_2=c.445A>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=40478524;refseq.end_2=40478524;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=578;refseq.mrnaCoord_2=496;refseq.name2_1=RPL14;refseq.name2_2=RPL14;refseq.name_1=NM_001034996;refseq.name_2=NM_003973;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T149A;refseq.proteinCoordStr_2=p.T149A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.start_1=40478524;refseq.start_2=40478524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 0/1 chr3 40545842 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.53T>G;refseq.codingCoordStr_2=c.53T>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=40545842;refseq.end_2=40545842;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=269;refseq.mrnaCoord_2=505;refseq.name2_1=ZNF621;refseq.name2_2=ZNF621;refseq.name_1=NM_001098414;refseq.name_2=NM_198484;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V18G;refseq.proteinCoordStr_2=p.V18G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=40545842;refseq.start_2=40545842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr3 41253123 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=489;Dels=0.00;HRun=2;HaplotypeScore=35.91;MQ=98.17;MQ0=0;OQ=313.73;QD=0.64;RankSumP=0.00000;SB=769.58;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1995C>A;refseq.codingCoordStr_2=c.1995C>A;refseq.codingCoordStr_3=c.1995C>A;refseq.codonCoord_1=665;refseq.codonCoord_2=665;refseq.codonCoord_3=665;refseq.end_1=41253123;refseq.end_2=41253123;refseq.end_3=41253123;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2263;refseq.mrnaCoord_2=2263;refseq.mrnaCoord_3=2263;refseq.name2_1=CTNNB1;refseq.name2_2=CTNNB1;refseq.name2_3=CTNNB1;refseq.name_1=NM_001098209;refseq.name_2=NM_001098210;refseq.name_3=NM_001904;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D665E;refseq.proteinCoordStr_2=p.D665E;refseq.proteinCoordStr_3=p.D665E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.start_1=41253123;refseq.start_2=41253123;refseq.start_3=41253123;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 1/0 chr3 41816720 . A C 335.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=98.73;MQ0=0;OQ=9892.52;QD=41.05;RankSumP=1.00000;SB=-3751.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1918T>G;refseq.codonCoord=640;refseq.end=41816720;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2119;refseq.name=NM_017886;refseq.name2=ULK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S640A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=70;refseq.start=41816720;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 41900402 . C T 323.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=97.61;MQ0=0;OQ=4596.84;QD=38.96;RankSumP=1.00000;SB=-1858.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1624G>A;refseq.codonCoord=542;refseq.end=41900402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1825;refseq.name=NM_017886;refseq.name2=ULK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A542T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-33;refseq.start=41900402;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr3 41900427 . T C 426.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.57;MQ0=0;OQ=5291.64;QD=42.33;RankSumP=1.00000;SB=-2215.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1599A>G;refseq.codonCoord=533;refseq.end=41900427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_017886;refseq.name2=ULK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V533V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=22;refseq.start=41900427;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 41935010 . T C 306.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=98.61;MQ0=0;OQ=8929.97;QD=41.53;RankSumP=1.00000;SB=-3383.70;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.670A>G;refseq.codonCoord=224;refseq.end=41935010;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_017886;refseq.name2=ULK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I224V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=27;refseq.start=41935010;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr3 41971140 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=561;Dels=0.00;HRun=0;HaplotypeScore=35.02;MQ=98.82;MQ0=0;OQ=23611.14;QD=42.09;RankSumP=1.00000;SB=-10296.43;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.116A>G;refseq.codonCoord=39;refseq.end=41971140;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_017886;refseq.name2=ULK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K39R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-23;refseq.start=41971140;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr3 42211419 . A G 429.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.90;MQ0=0;OQ=5698.34;QD=37.49;RankSumP=1.00000;SB=-2599.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1095A>G;refseq.codingCoordStr_2=c.921A>G;refseq.codonCoord_1=365;refseq.codonCoord_2=307;refseq.end_1=42211419;refseq.end_2=42211419;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1311;refseq.mrnaCoord_2=1114;refseq.name2_1=TRAK1;refseq.name2_2=TRAK1;refseq.name_1=NM_001042646;refseq.name_2=NM_014965;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S365S;refseq.proteinCoordStr_2=p.S307S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=42211419;refseq.start_2=42211419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr3 42226267 . C T 433.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=98.69;MQ0=0;OQ=9224.79;QD=42.32;RankSumP=1.00000;SB=-1826.73;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1749C>T;refseq.codingCoordStr_2=c.1575C>T;refseq.codonCoord_1=583;refseq.codonCoord_2=525;refseq.end_1=42226267;refseq.end_2=42226267;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1965;refseq.mrnaCoord_2=1768;refseq.name2_1=TRAK1;refseq.name2_2=TRAK1;refseq.name_1=NM_001042646;refseq.name_2=NM_014965;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S583S;refseq.proteinCoordStr_2=p.S525S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=42226267;refseq.start_2=42226267;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr3 42226333 . C T 236.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=16.83;MQ=98.70;MQ0=0;OQ=7764.99;QD=21.39;RankSumP=0.0266565;SB=-3126.06;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1815C>T;refseq.codingCoordStr_2=c.1641C>T;refseq.codonCoord_1=605;refseq.codonCoord_2=547;refseq.end_1=42226333;refseq.end_2=42226333;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2031;refseq.mrnaCoord_2=1834;refseq.name2_1=TRAK1;refseq.name2_2=TRAK1;refseq.name_1=NM_001042646;refseq.name_2=NM_014965;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P605P;refseq.proteinCoordStr_2=p.P547P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=42226333;refseq.start_2=42226333;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr3 42226502 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=166;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.83;MQ0=0;OQ=3944.01;QD=23.76;RankSumP=0.216392;SB=-378.03;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1810G>C;refseq.codonCoord_2=604;refseq.end_1=42235979;refseq.end_2=42226502;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2003;refseq.name2_1=TRAK1;refseq.name2_2=TRAK1;refseq.name_1=NM_001042646;refseq.name_2=NM_014965;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V604L;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=240;refseq.start_1=42226492;refseq.start_2=42226502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr3 42239472 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2101A>C;refseq.codonCoord=701;refseq.end=42239472;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2317;refseq.name=NM_001042646;refseq.name2=TRAK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T701P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=35;refseq.start=42239472;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 42423365 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.269A>C;refseq.codonCoord=90;refseq.end=42423365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_144634;refseq.name2=LYZL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N90T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-24;refseq.start=42423365;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 42547430 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr3;refseq.codingCoordStr=c.790+2;refseq.end=42547430;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_004624;refseq.name2=VIPR1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=42547430;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr3 42635571 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=218;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.50;MQ0=0;OQ=3019.72;QD=13.85;RankSumP=0.0375691;SB=-1318.66;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.189G>A;refseq.codonCoord=63;refseq.end=42635571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_005385;refseq.name2=NKTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T63T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-53;refseq.start=42635571;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr3 42703148 . A G 312.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=99.00;MQ0=0;OQ=4210.00;QD=16.32;RankSumP=0.401444;SB=-1144.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1034A>G;refseq.codonCoord=345;refseq.end=42703148;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_152393;refseq.name2=KBTBD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N345S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-119;refseq.start=42703148;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr3 42704668 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=4;RankSumP=4.65074e-08;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1183A>G;refseq.codonCoord=395;refseq.end=42704668;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1283;refseq.name=NM_152393;refseq.name2=KBTBD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M395V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=31;refseq.start=42704668;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr3 42708472 . T C 259.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=8.36;MQ=98.58;MQ0=0;OQ=9870.91;QD=36.69;RankSumP=1.00000;SB=-2519.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1849T>C;refseq.codonCoord=617;refseq.end=42708472;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1949;refseq.name=NM_152393;refseq.name2=KBTBD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C617R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=95;refseq.start=42708472;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr3 42710154 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.73;MQ0=0;OQ=1503.70;QD=14.46;RankSumP=0.333164;SB=-605.04;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1207A>G;refseq.codonCoord_2=403;refseq.end_1=42710154;refseq.end_2=42710154;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1354;refseq.mrnaCoord_2=1469;refseq.name2_1=HHATL;refseq.name2_2=HHATL;refseq.name_1=NR_027753;refseq.name_2=NM_020707;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M403V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=42710154;refseq.start_2=42710154;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr3 42710278 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=30.54;MQ=98.73;MQ0=0;OQ=3088.40;QD=9.53;RankSumP=0.403726;SB=-468.74;SecondBestBaseQ=21;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1083T>C;refseq.codonCoord_2=361;refseq.end_1=42710278;refseq.end_2=42710278;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1345;refseq.name2_1=HHATL;refseq.name2_2=HHATL;refseq.name_1=NR_027753;refseq.name_2=NM_020707;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A361A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=42710278;refseq.start_2=42710278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr3 42756280 . G T 210.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=6.53;MQ=98.82;MQ0=0;OQ=5967.00;QD=16.26;RankSumP=0.129358;SB=-2123.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1014C>A;refseq.codonCoord=338;refseq.end=42756280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.L338L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=27;refseq.start=42756280;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr3 42759502 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.877A>C;refseq.codonCoord=293;refseq.end=42759502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=961;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T293P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=52;refseq.start=42759502;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 42762473 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=1;HaplotypeScore=15.13;MQ=98.63;MQ0=0;OQ=9449.92;QD=19.48;RankSumP=0.0806604;SB=-3533.81;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.771T>C;refseq.codonCoord=257;refseq.end=42762473;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.S257S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=51;refseq.start=42762473;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 42763829 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.644T>G;refseq.codonCoord=215;refseq.end=42763829;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V215G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=41;refseq.start=42763829;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 42769211 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.373A>C;refseq.codonCoord=125;refseq.end=42769211;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=42769211;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 42774769 . G A 333.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=4.90;MQ=98.81;MQ0=0;OQ=4780.88;QD=16.89;RankSumP=0.238140;SB=-1788.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.73C>T;refseq.codonCoord=25;refseq.end=42774769;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_144719;refseq.name2=CCDC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R25W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=79;refseq.start=42774769;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr3 42882116 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=3;HaplotypeScore=2.04;MQ=98.68;MQ0=0;OQ=1880.96;QD=9.90;RankSumP=0.332577;SB=-847.66;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1118A>C;refseq.codonCoord=373;refseq.end=42882116;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_001296;refseq.name2=CCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y373S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1155;refseq.start=42882116;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 42892051 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.92;MQ0=0;OQ=9303.73;QD=41.53;RankSumP=1.00000;SB=-3973.29;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.262T>C;refseq.codonCoord=88;refseq.end=42892051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_004391;refseq.name2=CYP8B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S88P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=587;refseq.start=42892051;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr3 42931277 . T C 271.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=8.53;MQ=98.81;MQ0=0;OQ=14402.26;QD=38.10;RankSumP=1.00000;SB=-6627.48;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.786T>C;refseq.codingCoordStr_2=c.708T>C;refseq.codonCoord_1=262;refseq.codonCoord_2=236;refseq.end_1=42931277;refseq.end_2=42931277;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=972;refseq.mrnaCoord_2=1060;refseq.name2_1=ZNF662;refseq.name2_2=ZNF662;refseq.name_1=NM_001134656;refseq.name_2=NM_207404;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I262I;refseq.proteinCoordStr_2=p.I236I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=455;refseq.spliceDist_2=455;refseq.start_1=42931277;refseq.start_2=42931277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr3 43096563 . C T 361.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=5.69;MQ=98.61;MQ0=0;OQ=4099.01;QD=19.61;RankSumP=0.431774;SB=-1577.66;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1365G>A;refseq.codonCoord=455;refseq.end=43096563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_032806;refseq.name2=C3orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.P455P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-831;refseq.start=43096563;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr3 43364771 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=333;Dels=0.00;HRun=2;HaplotypeScore=52.32;MQ=98.21;MQ0=0;OQ=240.76;QD=0.72;RankSumP=0.00000;SB=348.19;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2016G>T;refseq.codingCoordStr_2=c.2016G>T;refseq.codonCoord_1=672;refseq.codonCoord_2=672;refseq.end_1=43364771;refseq.end_2=43364771;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2286;refseq.mrnaCoord_2=2348;refseq.name2_1=SNRK;refseq.name2_2=SNRK;refseq.name_1=NM_001100594;refseq.name_2=NM_017719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L672F;refseq.proteinCoordStr_2=p.L672F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=937;refseq.spliceDist_2=937;refseq.start_1=43364771;refseq.start_2=43364771;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr3 43577807 . C T 345.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=8.73;MQ=98.92;MQ0=0;OQ=8003.63;QD=21.01;RankSumP=0.147591;SB=-2656.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1385G>A;refseq.codonCoord=462;refseq.end=43577807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_018075;refseq.name2=ANO10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R462Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=92;refseq.start=43577807;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr3 44573926 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.383T>G;refseq.codingCoordStr_2=c.383T>G;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.end_1=44573926;refseq.end_2=44573926;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=799;refseq.mrnaCoord_2=799;refseq.name2_1=ZNF167;refseq.name2_2=ZNF167;refseq.name_1=NM_018651;refseq.name_2=NM_025169;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V128G;refseq.proteinCoordStr_2=p.V128G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=44573926;refseq.start_2=44573926;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 44587054 . C T 299.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.24;MQ0=0;OQ=4577.66;QD=42.78;RankSumP=1.00000;SB=-2108.74;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1448C>T;refseq.codonCoord_2=483;refseq.end_1=44599457;refseq.end_2=44587054;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1864;refseq.name2_1=ZNF167;refseq.name2_2=ZNF167;refseq.name_1=NM_025169;refseq.name_2=NM_018651;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T483I;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=637;refseq.start_1=44584940;refseq.start_2=44587054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr3 44737834 . A G 119.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=99.00;MQ0=0;OQ=4723.33;QD=38.09;RankSumP=1.00000;SB=-2361.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.521A>G;refseq.codingCoordStr_2=c.521A>G;refseq.codingCoordStr_3=c.521A>G;refseq.codingCoordStr_4=c.521A>G;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.codonCoord_3=174;refseq.codonCoord_4=174;refseq.end_1=44737834;refseq.end_2=44737834;refseq.end_3=44737834;refseq.end_4=44737834;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=776;refseq.mrnaCoord_2=682;refseq.mrnaCoord_3=678;refseq.mrnaCoord_4=780;refseq.name2_1=ZNF502;refseq.name2_2=ZNF502;refseq.name2_3=ZNF502;refseq.name2_4=ZNF502;refseq.name_1=NM_001134440;refseq.name_2=NM_001134441;refseq.name_3=NM_001134442;refseq.name_4=NM_033210;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q174R;refseq.proteinCoordStr_2=p.Q174R;refseq.proteinCoordStr_3=p.Q174R;refseq.proteinCoordStr_4=p.Q174R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=466;refseq.spliceDist_2=466;refseq.spliceDist_3=466;refseq.spliceDist_4=466;refseq.start_1=44737834;refseq.start_2=44737834;refseq.start_3=44737834;refseq.start_4=44737834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr3 44738041 . A C 447.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.76;MQ0=0;OQ=6878.68;QD=41.69;RankSumP=1.00000;SB=-2256.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.728A>C;refseq.codingCoordStr_2=c.728A>C;refseq.codingCoordStr_3=c.728A>C;refseq.codingCoordStr_4=c.728A>C;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.codonCoord_3=243;refseq.codonCoord_4=243;refseq.end_1=44738041;refseq.end_2=44738041;refseq.end_3=44738041;refseq.end_4=44738041;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=983;refseq.mrnaCoord_2=889;refseq.mrnaCoord_3=885;refseq.mrnaCoord_4=987;refseq.name2_1=ZNF502;refseq.name2_2=ZNF502;refseq.name2_3=ZNF502;refseq.name2_4=ZNF502;refseq.name_1=NM_001134440;refseq.name_2=NM_001134441;refseq.name_3=NM_001134442;refseq.name_4=NM_033210;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E243A;refseq.proteinCoordStr_2=p.E243A;refseq.proteinCoordStr_3=p.E243A;refseq.proteinCoordStr_4=p.E243A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=673;refseq.spliceDist_2=673;refseq.spliceDist_3=673;refseq.spliceDist_4=673;refseq.start_1=44738041;refseq.start_2=44738041;refseq.start_3=44738041;refseq.start_4=44738041;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/1 chr3 44750966 . A G 254.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.61;MQ0=0;OQ=13442.58;QD=38.30;RankSumP=1.00000;SB=-6638.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.49A>G;refseq.codonCoord=17;refseq.end=44750966;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_145044;refseq.name2=ZNF501;refseq.positionType=CDS;refseq.proteinCoordStr=p.M17V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=274;refseq.start=44750966;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 44770035 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.267T>C;refseq.codonCoord=89;refseq.end=44770035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_020696;refseq.name2=KIAA1143;refseq.positionType=CDS;refseq.proteinCoordStr=p.T89T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=14;refseq.start=44770035;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr3 44802983 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.552A>G;refseq.codonCoord=184;refseq.end=44802983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_020242;refseq.name2=KIF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G184G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-88;refseq.start=44802983;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 44814354 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=457;Dels=0.00;HRun=1;HaplotypeScore=61.66;MQ=98.34;MQ0=0;OQ=586.29;QD=1.28;RankSumP=0.00000;SB=658.14;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1000A>C;refseq.codonCoord=334;refseq.end=44814354;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_020242;refseq.name2=KIF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T334P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=25;refseq.start=44814354;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 44859651 . C A 309.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=98.84;MQ0=0;OQ=9514.62;QD=38.99;RankSumP=1.00000;SB=-3881.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3616C>A;refseq.codonCoord=1206;refseq.end=44859651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3765;refseq.name=NM_020242;refseq.name2=KIF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1206M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=31;refseq.start=44859651;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr3 44901941 . T G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=2.75249e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.140T>G;refseq.codonCoord=47;refseq.end=44901941;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_003241;refseq.name2=TGM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V47G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-54;refseq.start=44901941;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 44901947 . A C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.336405;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.146A>C;refseq.codonCoord=49;refseq.end=44901947;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_003241;refseq.name2=TGM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N49T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-48;refseq.start=44901947;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr3 44975630 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=20.29;MQ=98.67;MQ0=0;OQ=8293.17;QD=20.58;RankSumP=0.322021;SB=-1852.90;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.303C>T;refseq.codingCoordStr_2=c.303C>T;refseq.codingCoordStr_3=c.303C>T;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.codonCoord_3=101;refseq.end_1=44975630;refseq.end_2=44975630;refseq.end_3=44975630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=577;refseq.mrnaCoord_2=577;refseq.mrnaCoord_3=577;refseq.name2_1=ZDHHC3;refseq.name2_2=ZDHHC3;refseq.name2_3=ZDHHC3;refseq.name_1=NM_001135179;refseq.name_2=NM_001135180;refseq.name_3=NM_016598;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D101D;refseq.proteinCoordStr_2=p.D101D;refseq.proteinCoordStr_3=p.D101D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=44975630;refseq.start_2=44975630;refseq.start_3=44975630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr3 45102519 . T C 293.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.56;MQ0=0;OQ=5077.57;QD=42.67;RankSumP=1.00000;SB=-1802.39;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2126A>G;refseq.codonCoord=709;refseq.end=45102519;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2261;refseq.name=NM_022842;refseq.name2=CDCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D709G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=45;refseq.start=45102519;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 45109826 . T C 367.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=4.43;MQ=98.38;MQ0=0;OQ=5378.15;QD=36.09;RankSumP=1.00000;SB=-2050.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1574A>G;refseq.codonCoord=525;refseq.end=45109826;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1709;refseq.name=NM_022842;refseq.name2=CDCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q525R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-54;refseq.start=45109826;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr3 45128712 . G A 123.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.96;MQ0=0;OQ=5196.43;QD=20.79;RankSumP=0.437859;SB=-1636.92;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.522C>T;refseq.codingCoordStr_2=c.522C>T;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.end_1=45128712;refseq.end_2=45128712;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=657;refseq.mrnaCoord_2=657;refseq.name2_1=CDCP1;refseq.name2_2=CDCP1;refseq.name_1=NM_022842;refseq.name_2=NM_178181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I174I;refseq.proteinCoordStr_2=p.I174I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-134;refseq.spliceDist_2=-134;refseq.start_1=45128712;refseq.start_2=45128712;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr3 45502222 . T C 313.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=6.29;MQ=98.59;MQ0=0;OQ=8335.97;QD=38.24;RankSumP=1.00000;SB=-4170.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1053T>C;refseq.codonCoord=351;refseq.end=45502222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1238;refseq.name=NM_015340;refseq.name2=LARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L351L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=35;refseq.start=45502222;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr3 45508228 . G A 291.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=98.47;MQ0=0;OQ=14026.82;QD=39.18;RankSumP=1.00000;SB=-6127.12;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1455G>A;refseq.codonCoord=485;refseq.end=45508228;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_015340;refseq.name2=LARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A485A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-69;refseq.start=45508228;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 45534523 . T C 301.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.84;MQ0=0;OQ=5783.30;QD=37.31;RankSumP=1.00000;SB=-2875.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2169T>C;refseq.codonCoord=723;refseq.end=45534523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2354;refseq.name=NM_015340;refseq.name2=LARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A723A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-46;refseq.start=45534523;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 45540558 . A G 93.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=0;HaplotypeScore=12.82;MQ=98.66;MQ0=0;OQ=22054.28;QD=41.07;RankSumP=1.00000;SB=-9942.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2358A>G;refseq.codonCoord=786;refseq.end=45540558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2543;refseq.name=NM_015340;refseq.name2=LARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V786V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-47;refseq.start=45540558;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 45612257 . C T 143.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=1452.83;QD=15.79;RankSumP=0.00176920;SB=-711.90;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.882C>T;refseq.codonCoord=294;refseq.end=45612257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_014240;refseq.name2=LIMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T294T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-527;refseq.start=45612257;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 0/1 chr3 45612443 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=137;Dels=0.01;HRun=1;HaplotypeScore=15.87;MQ=98.73;MQ0=0;OQ=1458.80;QD=10.65;RankSumP=0.272443;SB=-539.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1068T>C;refseq.codonCoord=356;refseq.end=45612443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_014240;refseq.name2=LIMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G356G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-341;refseq.start=45612443;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr3 45652686 . C G 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500030;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1449C>G;refseq.codonCoord=483;refseq.end=45652686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_014240;refseq.name2=LIMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G483G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=41;refseq.start=45652686;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr3 45754140 . A T 7.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=2671.67;QD=17.46;RankSumP=0.00000;SB=-886.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1301A>T;refseq.codonCoord=434;refseq.end=45754140;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1505;refseq.name=NM_014016;refseq.name2=SACM1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y434F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=45754140;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=filterInsoap-gatk GT 0/1 chr3 45756142 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr3;refseq.codingCoordStr=c.1627+2;refseq.end=45756142;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014016;refseq.name2=SACM1L;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=45756142;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr3 45789098 . G A 242.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.71;MQ0=0;OQ=2424.26;QD=17.96;RankSumP=0.0143108;SB=-498.09;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.596C>T;refseq.codonCoord_2=199;refseq.end_1=45792246;refseq.end_2=45789098;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=720;refseq.name2_1=SLC6A20;refseq.name2_2=SLC6A20;refseq.name_1=NM_022405;refseq.name_2=NM_020208;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T199M;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=14;refseq.start_1=45787965;refseq.start_2=45789098;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr3 45792422 . A G 255.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=16.12;MQ=98.80;MQ0=0;OQ=5048.22;QD=16.77;RankSumP=0.0548626;SB=-1951.39;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.417T>C;refseq.codingCoordStr_2=c.417T>C;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.end_1=45792422;refseq.end_2=45792422;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=541;refseq.mrnaCoord_2=541;refseq.name2_1=SLC6A20;refseq.name2_2=SLC6A20;refseq.name_1=NM_020208;refseq.name_2=NM_022405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C139C;refseq.proteinCoordStr_2=p.C139C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=45792422;refseq.start_2=45792422;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr3 45812890 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=150;Dels=0.00;HRun=3;HaplotypeScore=14.60;MQ=97.74;MQ0=0;OQ=1712.83;QD=11.42;RankSumP=0.229253;SB=-614.42;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.26C>G;refseq.codingCoordStr_2=c.26C>G;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=45812890;refseq.end_2=45812890;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=150;refseq.mrnaCoord_2=150;refseq.name2_1=SLC6A20;refseq.name2_2=SLC6A20;refseq.name_1=NM_020208;refseq.name_2=NM_022405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A9G;refseq.proteinCoordStr_2=p.A9G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-96;refseq.spliceDist_2=-96;refseq.start_1=45812890;refseq.start_2=45812890;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr3 45971765 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=992.46;QD=15.04;RankSumP=0.429372;SB=-249.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3924C>T;refseq.codonCoord=1308;refseq.end=45971765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4130;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1308L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-21;refseq.start=45971765;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr3 45983794 . G A 214.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.98;MQ0=0;OQ=1207.95;QD=16.32;RankSumP=0.249188;SB=-468.43;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2036C>T;refseq.codonCoord=679;refseq.end=45983794;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2242;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A679V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1022;refseq.start=45983794;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 45984160 . G A 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.500585;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1670C>T;refseq.codonCoord=557;refseq.end=45984160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1876;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A557V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1040;refseq.start=45984160;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 1/0 chr3 45984161 . C A 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.504638;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1669G>T;refseq.codonCoord=557;refseq.end=45984161;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1875;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A557S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1039;refseq.start=45984161;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr3 45984868 . C G 117.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=2;HaplotypeScore=6.26;MQ=98.14;MQ0=0;OQ=5418.28;QD=22.58;RankSumP=0.132616;SB=-1673.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.962G>C;refseq.codonCoord=321;refseq.end=45984868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G321A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=332;refseq.start=45984868;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr3 45985081 . C T 241.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=98.75;MQ0=0;OQ=2289.93;QD=15.68;RankSumP=0.288228;SB=-943.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.749G>A;refseq.codonCoord=250;refseq.end=45985081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R250Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=119;refseq.start=45985081;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr3 45986222 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.579A>C;refseq.codonCoord=193;refseq.end=45986222;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=785;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K193N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=40;refseq.start=45986222;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr3 45996222 . G T 187.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=6.40;MQ=98.55;MQ0=0;OQ=1532.77;QD=14.32;RankSumP=0.460092;SB=-454.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.267C>A;refseq.codonCoord=89;refseq.end=45996222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=473;refseq.name=NM_024513;refseq.name2=FYCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R89R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-22;refseq.start=45996222;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr3 46425046 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=6.94142e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.508A>C;refseq.codingCoordStr_2=c.472A>C;refseq.codonCoord_1=170;refseq.codonCoord_2=158;refseq.end_1=46425046;refseq.end_2=46425046;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=757;refseq.name2_1=CCRL2;refseq.name2_2=CCRL2;refseq.name_1=NM_001130910;refseq.name_2=NM_003965;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T170P;refseq.proteinCoordStr_2=p.T158P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=484;refseq.spliceDist_2=484;refseq.start_1=46425046;refseq.start_2=46425046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr3 46455805 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0850653;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1894T>C;refseq.codonCoord=632;refseq.end=46455805;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_002343;refseq.name2=LTF;refseq.positionType=CDS;refseq.proteinCoordStr=p.L632L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-15;refseq.start=46455805;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr3 46462941 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.353007;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1351G>A;refseq.codonCoord=451;refseq.end=46462941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1389;refseq.name=NM_002343;refseq.name2=LTF;refseq.positionType=CDS;refseq.proteinCoordStr=p.V451M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=46462941;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr3 46476291 . C T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.0225330;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.66G>A;refseq.codonCoord=22;refseq.end=46476291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=104;refseq.name=NM_002343;refseq.name2=LTF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R22R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=23;refseq.start=46476291;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 0/1 chr3 46476294 . A C 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.527778;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.63T>G;refseq.codonCoord=21;refseq.end=46476294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=101;refseq.name=NM_002343;refseq.name2=LTF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R21R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=20;refseq.start=46476294;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr3 46546420 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.752A>C;refseq.codingCoordStr_2=c.752A>C;refseq.codonCoord_1=251;refseq.codonCoord_2=251;refseq.end_1=46546420;refseq.end_2=46546420;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1116;refseq.mrnaCoord_2=917;refseq.name2_1=LRRC2;refseq.name2_2=LRRC2;refseq.name_1=NM_024512;refseq.name_2=NM_024750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D251A;refseq.proteinCoordStr_2=p.D251A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=46546420;refseq.start_2=46546420;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr3 46555595 . G T 344.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.76;MQ0=0;OQ=4521.01;QD=18.60;RankSumP=0.0605317;SB=-1758.60;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.434C>A;refseq.codingCoordStr_2=c.434C>A;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=46555595;refseq.end_2=46555595;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=798;refseq.mrnaCoord_2=599;refseq.name2_1=LRRC2;refseq.name2_2=LRRC2;refseq.name_1=NM_024512;refseq.name_2=NM_024750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A145E;refseq.proteinCoordStr_2=p.A145E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=46555595;refseq.start_2=46555595;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr3 46561626 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1090;Dels=0.00;HRun=0;HaplotypeScore=30.51;MQ=98.71;MQ0=0;OQ=17542.98;QD=16.09;RankSumP=2.72593e-05;SB=-6455.94;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.247A>G;refseq.codingCoordStr_2=c.247A>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=46561626;refseq.end_2=46561626;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=412;refseq.name2_1=LRRC2;refseq.name2_2=LRRC2;refseq.name_1=NM_024512;refseq.name_2=NM_024750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T83A;refseq.proteinCoordStr_2=p.T83A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=46561626;refseq.start_2=46561626;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/0 chr3 46567991 . A G 127.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.64;MQ0=0;OQ=6509.13;QD=15.65;RankSumP=0.0284628;SB=-2566.21;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.95T>C;refseq.codingCoordStr_2=c.95T>C;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.end_1=46567991;refseq.end_2=46567991;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=459;refseq.mrnaCoord_2=260;refseq.name2_1=LRRC2;refseq.name2_2=LRRC2;refseq.name_1=NM_024512;refseq.name_2=NM_024750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V32A;refseq.proteinCoordStr_2=p.V32A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=46567991;refseq.start_2=46567991;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr3 46595618 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=1;HaplotypeScore=12.09;MQ=98.71;MQ0=0;OQ=10341.00;QD=21.37;RankSumP=0.175760;SB=-3969.40;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.17T>C;refseq.codingCoordStr_3=c.65T>C;refseq.codonCoord_2=6;refseq.codonCoord_3=22;refseq.end_1=46596420;refseq.end_2=46595618;refseq.end_3=46595618;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=59;refseq.mrnaCoord_3=449;refseq.name2_1=LRRC2;refseq.name2_2=TDGF1;refseq.name2_3=TDGF1;refseq.name_1=NM_024750;refseq.name_2=NM_001174136;refseq.name_3=NM_003212;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V6A;refseq.proteinCoordStr_3=p.V22A;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=46568115;refseq.start_2=46595618;refseq.start_3=46595618;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr3 46595764 . T G 228 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=92.31;MQ0=5;OQ=2862.29;QD=18.12;RankSumP=0.488373;SB=-1210.75;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.79T>G;refseq.codingCoordStr_3=c.127T>G;refseq.codonCoord_2=27;refseq.codonCoord_3=43;refseq.end_1=46596420;refseq.end_2=46595764;refseq.end_3=46595764;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=121;refseq.mrnaCoord_3=511;refseq.name2_1=LRRC2;refseq.name2_2=TDGF1;refseq.name2_3=TDGF1;refseq.name_1=NM_024750;refseq.name_2=NM_001174136;refseq.name_3=NM_003212;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y27D;refseq.proteinCoordStr_3=p.Y43D;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=46568115;refseq.start_2=46595764;refseq.start_3=46595764;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr3 46595805 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=9.66;MQ=93.26;MQ0=5;OQ=5591.15;QD=22.01;RankSumP=0.408113;SB=-1233.30;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.120G>A;refseq.codingCoordStr_3=c.168G>A;refseq.codonCoord_2=40;refseq.codonCoord_3=56;refseq.end_1=46596420;refseq.end_2=46595805;refseq.end_3=46595805;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=162;refseq.mrnaCoord_3=552;refseq.name2_1=LRRC2;refseq.name2_2=TDGF1;refseq.name2_3=TDGF1;refseq.name_1=NM_024750;refseq.name_2=NM_001174136;refseq.name_3=NM_003212;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E40E;refseq.proteinCoordStr_3=p.E56E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=46568115;refseq.start_2=46595805;refseq.start_3=46595805;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr3 46688461 . C G 44.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=20.48;MQ=98.62;MQ0=0;OQ=9227.29;QD=35.49;RankSumP=1.00000;SB=-2462.78;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2601G>C;refseq.codingCoordStr_2=c.642G>C;refseq.codonCoord_1=867;refseq.codonCoord_2=214;refseq.end_1=46688461;refseq.end_2=46688461;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2665;refseq.mrnaCoord_2=1074;refseq.name2_1=ALS2CL;refseq.name2_2=ALS2CL;refseq.name_1=NM_147129;refseq.name_2=NM_182775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T867T;refseq.proteinCoordStr_2=p.T214T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=46688461;refseq.start_2=46688461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr3 46703547 . T G 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=2.28899e-09;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.464A>C;refseq.codonCoord=155;refseq.end=46703547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_147129;refseq.name2=ALS2CL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H155P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-71;refseq.start=46703547;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 46704761 . C G 419.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.29;MQ0=0;OQ=4317.72;QD=42.75;RankSumP=1.00000;SB=-1636.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.133G>C;refseq.codonCoord=45;refseq.end=46704761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_147129;refseq.name2=ALS2CL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E45Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=30;refseq.start=46704761;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr3 46726102 . A G 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0220318;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.391A>G;refseq.codonCoord=131;refseq.end=46726102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_147196;refseq.name2=TMIE;refseq.positionType=CDS;refseq.proteinCoordStr=p.K131E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=30;refseq.start=46726102;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr3 46726104 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0381333;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.393G>C;refseq.codonCoord=131;refseq.end=46726104;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_147196;refseq.name2=TMIE;refseq.positionType=CDS;refseq.proteinCoordStr=p.K131N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=32;refseq.start=46726104;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr3 46730941 . C T 124.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.68;MQ0=0;OQ=1130.16;QD=19.16;RankSumP=0.279807;SB=-430.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.525G>A;refseq.codonCoord=175;refseq.end=46730941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_013270;refseq.name2=PRSS50;refseq.positionType=CDS;refseq.proteinCoordStr=p.T175T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=55;refseq.start=46730941;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 46734014 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=2.53;MQ=98.19;MQ0=0;OQ=1136.87;QD=16.24;RankSumP=0.151856;SB=-259.88;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.224A>C;refseq.codonCoord=75;refseq.end=46734014;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_013270;refseq.name2=PRSS50;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q75P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-84;refseq.start=46734014;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 46910402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=46910402;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_000316;refseq.name2=PTH1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=46910402;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 46914592 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=89;Dels=0.00;HRun=0;HaplotypeScore=4.51;MQ=97.86;MQ0=0;OQ=1667.34;QD=18.73;RankSumP=0.0487209;SB=-622.63;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.449G>A;refseq.codonCoord=150;refseq.end=46914592;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_000316;refseq.name2=PTH1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.R150H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=25;refseq.start=46914592;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr3 46919278 . T C 231.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=9.18;MQ=98.72;MQ0=0;OQ=16583.46;QD=38.30;RankSumP=1.00000;SB=-7652.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1389T>C;refseq.codonCoord=463;refseq.end=46919278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_000316;refseq.name2=PTH1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.N463N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=46919278;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 46993206 . A C 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.500000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.60T>G;refseq.codonCoord=20;refseq.end=46993206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=69;refseq.name=NM_144716;refseq.name2=CCDC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G20G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=69;refseq.start=46993206;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr3 46993218 . T C 301.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=1437.91;QD=35.07;RankSumP=1.00000;SB=-689.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.48A>G;refseq.codonCoord=16;refseq.end=46993218;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_144716;refseq.name2=CCDC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A16A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=57;refseq.start=46993218;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr3 47100389 . G A 328.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.86;MQ0=0;OQ=6837.80;QD=21.17;RankSumP=0.0311761;SB=-2049.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5885C>T;refseq.codonCoord=1962;refseq.end=47100389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5938;refseq.name=NM_014159;refseq.name2=SETD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1962L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-176;refseq.start=47100389;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr3 47137665 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=504;Dels=0.00;HRun=1;HaplotypeScore=29.56;MQ=98.82;MQ0=0;OQ=9562.82;QD=18.97;RankSumP=0.0912690;SB=-3285.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3465T>C;refseq.codonCoord=1155;refseq.end=47137665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3518;refseq.name=NM_014159;refseq.name2=SETD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1155N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-990;refseq.start=47137665;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr3 47257307 . G A 340.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=7.87;MQ=98.88;MQ0=0;OQ=6446.50;QD=20.08;RankSumP=0.278523;SB=-1404.77;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.1912C>T;refseq.codingCoordStr_3=c.1717C>T;refseq.codingCoordStr_4=c.1912C>T;refseq.codonCoord_2=638;refseq.codonCoord_3=573;refseq.codonCoord_4=638;refseq.end_1=47259462;refseq.end_2=47257307;refseq.end_3=47257307;refseq.end_4=47257307;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=2516;refseq.mrnaCoord_3=2075;refseq.mrnaCoord_4=2270;refseq.name2_1=FLJ39534;refseq.name2_2=KIF9;refseq.name2_3=KIF9;refseq.name2_4=KIF9;refseq.name_1=NR_033373;refseq.name_2=NM_001134878;refseq.name_3=NM_022342;refseq.name_4=NM_182902;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R638W;refseq.proteinCoordStr_3=p.R573W;refseq.proteinCoordStr_4=p.R638W;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.start_1=47256699;refseq.start_2=47257307;refseq.start_3=47257307;refseq.start_4=47257307;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=Intersection GT 1/0 chr3 47283478 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.760A>G;refseq.codingCoordStr_2=c.760A>G;refseq.codingCoordStr_3=c.760A>G;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.codonCoord_3=254;refseq.end_1=47283478;refseq.end_2=47283478;refseq.end_3=47283478;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1364;refseq.mrnaCoord_2=1118;refseq.mrnaCoord_3=1118;refseq.name2_1=KIF9;refseq.name2_2=KIF9;refseq.name2_3=KIF9;refseq.name_1=NM_001134878;refseq.name_2=NM_022342;refseq.name_3=NM_182902;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K254E;refseq.proteinCoordStr_2=p.K254E;refseq.proteinCoordStr_3=p.K254E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=47283478;refseq.start_2=47283478;refseq.start_3=47283478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=FilteredInAll GT 1/0 chr3 47424062 . T C 323.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=97.82;MQ0=0;OQ=3393.76;QD=39.46;RankSumP=1.00000;SB=-1372.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.987T>C;refseq.codonCoord=329;refseq.end=47424062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.T329T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-17;refseq.start=47424062;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 47427091 . G A 231.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=11.87;MQ=97.99;MQ0=0;OQ=8018.46;QD=40.91;RankSumP=1.00000;SB=-3865.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2799G>A;refseq.codonCoord=933;refseq.end=47427091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2895;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.P933P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=670;refseq.start=47427091;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr3 47427122 . G A 289.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=9.59;MQ=97.43;MQ0=0;OQ=2416.72;QD=18.88;RankSumP=0.434193;SB=-859.33;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2830G>A;refseq.codonCoord=944;refseq.end=47427122;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2926;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.A944T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=701;refseq.start=47427122;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr3 47427315 . G T 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.00;MQ0=0;OQ=158.21;QD=12.17;RankSumP=0.463636;SB=-39.38;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3023G>T;refseq.codonCoord=1008;refseq.end=47427315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3119;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1008V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-866;refseq.start=47427315;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr3 47427790 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.32;MQ0=0;OQ=586.71;QD=13.97;RankSumP=0.628788;SB=-129.08;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3498G>A;refseq.codonCoord=1166;refseq.end=47427790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3594;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1166E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-391;refseq.start=47427790;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr3 47429403 . G A 39.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=185.03;QD=30.84;RankSumP=1.00000;SB=-71.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4635G>A;refseq.codonCoord=1545;refseq.end=47429403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4731;refseq.name=NM_015466;refseq.name2=PTPN23;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1545P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=204;refseq.start=47429403;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/1 chr3 47430810 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3458T>G;refseq.codonCoord=1153;refseq.end=47430810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3713;refseq.name=NM_012235;refseq.name2=SCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1153G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=71;refseq.start=47430810;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr3 47434683 . C T 127.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=99.00;MQ0=0;OQ=653.32;QD=19.22;RankSumP=0.530391;SB=-301.24;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2392G>A;refseq.codonCoord=798;refseq.end=47434683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2647;refseq.name=NM_012235;refseq.name2=SCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V798I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-56;refseq.start=47434683;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr3 47437204 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=120;Dels=0.00;HRun=3;HaplotypeScore=5.32;MQ=97.28;MQ0=0;OQ=3920.36;QD=32.67;RankSumP=1.00000;SB=-1826.29;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1407A>G;refseq.codonCoord=469;refseq.end=47437204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_012235;refseq.name2=SCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G469G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=63;refseq.start=47437204;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr3 47593957 . C A 235.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.52;MQ0=0;OQ=2824.51;QD=14.27;RankSumP=0.394041;SB=-987.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.563G>T;refseq.codonCoord=188;refseq.end=47593957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_006574;refseq.name2=CSPG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G188V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=466;refseq.start=47593957;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 47678938 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2048A>C;refseq.codonCoord=683;refseq.end=47678938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2166;refseq.name=NM_003074;refseq.name2=SMARCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y683S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-111;refseq.start=47678938;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr3 47687206 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=2;HaplotypeScore=3.13;MQ=98.86;MQ0=0;OQ=6274.63;QD=22.17;RankSumP=0.266222;SB=-2196.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1845A>G;refseq.codonCoord=615;refseq.end=47687206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1963;refseq.name=NM_003074;refseq.name2=SMARCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K615K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=47687206;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr3 47887511 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.2655T>C;refseq.codingCoordStr_2=c.1860T>C;refseq.codingCoordStr_3=c.2655T>C;refseq.codingCoordStr_4=c.1860T>C;refseq.codonCoord_1=885;refseq.codonCoord_2=620;refseq.codonCoord_3=885;refseq.codonCoord_4=620;refseq.end_1=47887511;refseq.end_2=47887511;refseq.end_3=47887511;refseq.end_4=47887511;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3181;refseq.mrnaCoord_2=2007;refseq.mrnaCoord_3=3181;refseq.mrnaCoord_4=2007;refseq.name2_1=MAP4;refseq.name2_2=MAP4;refseq.name2_3=MAP4;refseq.name2_4=MAP4;refseq.name_1=NM_001134364;refseq.name_2=NM_001134365;refseq.name_3=NM_002375;refseq.name_4=NM_030884;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V885V;refseq.proteinCoordStr_2=p.V620V;refseq.proteinCoordStr_3=p.V885V;refseq.proteinCoordStr_4=p.V620V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.spliceDist_4=89;refseq.start_1=47887511;refseq.start_2=47887511;refseq.start_3=47887511;refseq.start_4=47887511;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=FilteredInAll GT 0/1 chr3 47935211 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.652+2;refseq.codingCoordStr_2=c.652+2;refseq.end_1=47935211;refseq.end_2=47935211;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MAP4;refseq.name2_2=MAP4;refseq.name_1=NM_001134364;refseq.name_2=NM_002375;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=47935211;refseq.start_2=47935211;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr3 47935239 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.626T>G;refseq.codingCoordStr_2=c.626T>G;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.end_1=47935239;refseq.end_2=47935239;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1152;refseq.mrnaCoord_2=1152;refseq.name2_1=MAP4;refseq.name2_2=MAP4;refseq.name_1=NM_001134364;refseq.name_2=NM_002375;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V209G;refseq.proteinCoordStr_2=p.V209G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=47935239;refseq.start_2=47935239;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr3 48277335 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.125T>G;refseq.codonCoord=42;refseq.end=48277335;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_016089;refseq.name2=ZNF589;refseq.positionType=CDS;refseq.proteinCoordStr=p.V42G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=48277335;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 48312628 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.242T>G;refseq.codonCoord=81;refseq.end=48312628;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_005793;refseq.name2=NME6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V81G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-16;refseq.start=48312628;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 48315016 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.87869e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.19A>G;refseq.codonCoord=7;refseq.end=48315016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=65;refseq.name=NM_005793;refseq.name2=NME6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=48315016;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 48389278 . C T 155.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=98.89;MQ0=0;OQ=2617.04;QD=15.13;RankSumP=0.126298;SB=-855.76;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.17C>T;refseq.codingCoordStr_3=c.17C>T;refseq.codonCoord_2=6;refseq.codonCoord_3=6;refseq.end_1=48389791;refseq.end_2=48389278;refseq.end_3=48389278;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=230;refseq.mrnaCoord_3=203;refseq.name2_1=FBXW12;refseq.name2_2=FBXW12;refseq.name2_3=FBXW12;refseq.name_1=NM_001159929;refseq.name_2=NM_001159927;refseq.name_3=NM_207102;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P6L;refseq.proteinCoordStr_3=p.P6L;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=48388825;refseq.start_2=48389278;refseq.start_3=48389278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 0/1 chr3 48397239 . T A 229.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.88;MQ0=0;OQ=15426.79;QD=40.17;RankSumP=1.00000;SB=-6597.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.608T>A;refseq.codingCoordStr_2=c.761T>A;refseq.codingCoordStr_3=c.818T>A;refseq.codonCoord_1=203;refseq.codonCoord_2=254;refseq.codonCoord_3=273;refseq.end_1=48397239;refseq.end_2=48397239;refseq.end_3=48397239;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=821;refseq.mrnaCoord_2=830;refseq.mrnaCoord_3=1004;refseq.name2_1=FBXW12;refseq.name2_2=FBXW12;refseq.name2_3=FBXW12;refseq.name_1=NM_001159927;refseq.name_2=NM_001159929;refseq.name_3=NM_207102;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V203D;refseq.proteinCoordStr_2=p.V254D;refseq.proteinCoordStr_3=p.V273D;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=48397239;refseq.start_2=48397239;refseq.start_3=48397239;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr3 48436317 . C G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.81;MQ0=0;OQ=2053.91;QD=45.64;RankSumP=1.00000;SB=-519.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2382G>C;refseq.codingCoordStr_2=c.2382G>C;refseq.codonCoord_1=794;refseq.codonCoord_2=794;refseq.end_1=48436317;refseq.end_2=48436317;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2485;refseq.mrnaCoord_2=2652;refseq.name2_1=PLXNB1;refseq.name2_2=PLXNB1;refseq.name_1=NM_001130082;refseq.name_2=NM_002673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P794P;refseq.proteinCoordStr_2=p.P794P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-328;refseq.spliceDist_2=-328;refseq.start_1=48436317;refseq.start_2=48436317;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr3 48437746 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=4.71959e-08;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1705T>C;refseq.codingCoordStr_2=c.1705T>C;refseq.codonCoord_1=569;refseq.codonCoord_2=569;refseq.end_1=48437746;refseq.end_2=48437746;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1808;refseq.mrnaCoord_2=1975;refseq.name2_1=PLXNB1;refseq.name2_2=PLXNB1;refseq.name_1=NM_001130082;refseq.name_2=NM_002673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S569P;refseq.proteinCoordStr_2=p.S569P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=48437746;refseq.start_2=48437746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 48449253 . A G 151.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=10.86;MQ=98.66;MQ0=0;OQ=11318.59;QD=38.37;RankSumP=1.00000;SB=-3981.27;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.805T>C;refseq.codonCoord=269;refseq.end=48449253;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_024661;refseq.name2=CCDC51;refseq.positionType=CDS;refseq.proteinCoordStr=p.L269L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=328;refseq.start=48449253;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 48451435 . C G 218.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.27;MQ0=0;OQ=1399.10;QD=43.72;RankSumP=1.00000;SB=-668.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.108G>C;refseq.codonCoord=36;refseq.end=48451435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_024661;refseq.name2=CCDC51;refseq.positionType=CDS;refseq.proteinCoordStr=p.L36L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=116;refseq.start=48451435;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr3 48473773 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.782A>C;refseq.codingCoordStr_2=c.782A>C;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.end_1=48473773;refseq.end_2=48473773;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=814;refseq.mrnaCoord_2=814;refseq.name2_1=ATRIP;refseq.name2_2=ATRIP;refseq.name_1=NM_032166;refseq.name_2=NM_130384;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H261P;refseq.proteinCoordStr_2=p.H261P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=48473773;refseq.start_2=48473773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 48483589 . C T 399.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.78;MQ0=0;OQ=7407.99;QD=36.14;RankSumP=1.00000;SB=-2405.98;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.696C>T;refseq.codingCoordStr_2=c.531C>T;refseq.codonCoord_1=232;refseq.codonCoord_2=177;refseq.end_1=48483589;refseq.end_2=48483589;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1037;refseq.name2_1=TREX1;refseq.name2_2=TREX1;refseq.name_1=NM_016381;refseq.name_2=NM_033629;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y232Y;refseq.proteinCoordStr_2=p.Y177Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-460;refseq.spliceDist_2=-460;refseq.start_1=48483589;refseq.start_2=48483589;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr3 48600270 . T C 159.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=1853.34;QD=34.32;RankSumP=1.00000;SB=-848.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2817A>G;refseq.codonCoord=939;refseq.end=48600270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2818;refseq.name=NM_000094;refseq.name2=COL7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P939P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-41;refseq.start=48600270;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr3 48601792 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2286G>C;refseq.codonCoord=762;refseq.end=48601792;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2287;refseq.name=NM_000094;refseq.name2=COL7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G762G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-29;refseq.start=48601792;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr3 48605239 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.819A>C;refseq.codonCoord=273;refseq.end=48605239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_000094;refseq.name2=COL7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G273G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-28;refseq.start=48605239;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr3 48634013 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=13.98;MQ=97.97;MQ0=0;OQ=724.03;QD=6.58;RankSumP=0.0345619;SB=-159.50;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.181C>A;refseq.codonCoord=61;refseq.end=48634013;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_001008269;refseq.name2=TMEM89;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-114;refseq.start=48634013;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr3 48639459 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1864A>C;refseq.codingCoordStr_2=c.1927A>C;refseq.codingCoordStr_3=c.1924A>C;refseq.codingCoordStr_4=c.1870A>C;refseq.codonCoord_1=622;refseq.codonCoord_2=643;refseq.codonCoord_3=642;refseq.codonCoord_4=624;refseq.end_1=48639459;refseq.end_2=48639459;refseq.end_3=48639459;refseq.end_4=48639459;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2115;refseq.mrnaCoord_2=2027;refseq.mrnaCoord_3=2024;refseq.mrnaCoord_4=1970;refseq.name2_1=SLC26A6;refseq.name2_2=SLC26A6;refseq.name2_3=SLC26A6;refseq.name2_4=SLC26A6;refseq.name_1=NM_001040454;refseq.name_2=NM_022911;refseq.name_3=NM_134263;refseq.name_4=NM_134426;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T622P;refseq.proteinCoordStr_2=p.T643P;refseq.proteinCoordStr_3=p.T642P;refseq.proteinCoordStr_4=p.T624P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=31;refseq.spliceDist_4=51;refseq.start_1=48639459;refseq.start_2=48639459;refseq.start_3=48639459;refseq.start_4=48639459;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr3 48644165 . A C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.500000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.761T>G;refseq.codingCoordStr_2=c.824T>G;refseq.codingCoordStr_3=c.824T>G;refseq.codingCoordStr_4=c.824T>G;refseq.codonCoord_1=254;refseq.codonCoord_2=275;refseq.codonCoord_3=275;refseq.codonCoord_4=275;refseq.end_1=48644165;refseq.end_2=48644165;refseq.end_3=48644165;refseq.end_4=48644165;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=924;refseq.mrnaCoord_3=924;refseq.mrnaCoord_4=924;refseq.name2_1=SLC26A6;refseq.name2_2=SLC26A6;refseq.name2_3=SLC26A6;refseq.name2_4=SLC26A6;refseq.name_1=NM_001040454;refseq.name_2=NM_022911;refseq.name_3=NM_134263;refseq.name_4=NM_134426;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V254G;refseq.proteinCoordStr_2=p.V275G;refseq.proteinCoordStr_3=p.V275G;refseq.proteinCoordStr_4=p.V275G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.spliceDist_3=74;refseq.spliceDist_4=74;refseq.start_1=48644165;refseq.start_2=48644165;refseq.start_3=48644165;refseq.start_4=48644165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=soap GT 0/1 chr3 48644451 . C T 391.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.42;MQ0=0;OQ=2529.27;QD=37.75;RankSumP=1.00000;SB=-835.08;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.553G>A;refseq.codingCoordStr_2=c.616G>A;refseq.codingCoordStr_3=c.616G>A;refseq.codingCoordStr_4=c.616G>A;refseq.codonCoord_1=185;refseq.codonCoord_2=206;refseq.codonCoord_3=206;refseq.codonCoord_4=206;refseq.end_1=48644451;refseq.end_2=48644451;refseq.end_3=48644451;refseq.end_4=48644451;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=716;refseq.mrnaCoord_3=716;refseq.mrnaCoord_4=716;refseq.name2_1=SLC26A6;refseq.name2_2=SLC26A6;refseq.name2_3=SLC26A6;refseq.name2_4=SLC26A6;refseq.name_1=NM_001040454;refseq.name_2=NM_022911;refseq.name_3=NM_134263;refseq.name_4=NM_134426;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V185M;refseq.proteinCoordStr_2=p.V206M;refseq.proteinCoordStr_3=p.V206M;refseq.proteinCoordStr_4=p.V206M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=48644451;refseq.start_2=48644451;refseq.start_3=48644451;refseq.start_4=48644451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/1 chr3 48656057 . C T 250.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=485.81;QD=34.70;RankSumP=1.00000;SB=-181.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.8223G>A;refseq.codonCoord=2741;refseq.end=48656057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8504;refseq.name=NM_001407;refseq.name2=CELSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2741G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=58;refseq.start=48656057;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr3 48666320 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=22.58;MQ=97.72;MQ0=0;OQ=6180.59;QD=31.70;RankSumP=1.00000;SB=-2472.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5273A>G;refseq.codonCoord=1758;refseq.end=48666320;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5554;refseq.name=NM_001407;refseq.name2=CELSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1758R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=48666320;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr3 48669151 . G A 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.47;MQ0=0;OQ=569.79;QD=27.13;RankSumP=1.00000;SB=-124.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4383C>T;refseq.codonCoord=1461;refseq.end=48669151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4664;refseq.name=NM_001407;refseq.name2=CELSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1461C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-17;refseq.start=48669151;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr3 48672658 . C G 242.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=98.79;MQ0=0;OQ=13895.11;QD=42.75;RankSumP=1.00000;SB=-4856.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2414G>C;refseq.codonCoord=805;refseq.end=48672658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2695;refseq.name=NM_001407;refseq.name2=CELSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S805T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1335;refseq.start=48672658;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 48674523 . C T 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.91;MQ0=0;OQ=4476.09;QD=39.61;RankSumP=1.00000;SB=-559.75;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.549G>A;refseq.codonCoord=183;refseq.end=48674523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_001407;refseq.name2=CELSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K183K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=830;refseq.start=48674523;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr3 48700711 . C T 326.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.94;MQ0=0;OQ=5731.26;QD=40.36;RankSumP=1.00000;SB=-2849.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1280G>A;refseq.codingCoordStr_2=c.1280G>A;refseq.codonCoord_1=427;refseq.codonCoord_2=427;refseq.end_1=48700711;refseq.end_2=48700711;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1524;refseq.mrnaCoord_2=1527;refseq.name2_1=IP6K2;refseq.name2_2=IP6K2;refseq.name_1=NM_001005909;refseq.name_2=NM_016291;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.*427*;refseq.proteinCoordStr_2=p.*427*;refseq.referenceAA_1=Stop;refseq.referenceAA_2=Stop;refseq.referenceCodon_1=TGA;refseq.referenceCodon_2=TGA;refseq.spliceDist_1=-272;refseq.spliceDist_2=-272;refseq.start_1=48700711;refseq.start_2=48700711;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=Intersection GT 1/1 chr3 48870957 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.830T>C;refseq.codonCoord=277;refseq.end=48870957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_000387;refseq.name2=SLC25A20;refseq.positionType=CDS;refseq.proteinCoordStr=p.F277S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-14;refseq.start=48870957;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr3 49024505 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.624T>G;refseq.codonCoord=208;refseq.end=49024505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_018031;refseq.name2=WDR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G208G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=434;refseq.start=49024505;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 49024507 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.626C>G;refseq.codonCoord=209;refseq.end=49024507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_018031;refseq.name2=WDR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A209G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=436;refseq.start=49024507;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 49024762 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.881T>G;refseq.codonCoord=294;refseq.end=49024762;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_018031;refseq.name2=WDR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V294G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=691;refseq.start=49024762;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr3 49029696 . T C 330.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.48;MQ0=0;OQ=6550.86;QD=38.76;RankSumP=1.00000;SB=-3122.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.896A>G;refseq.codingCoordStr_2=c.395A>G;refseq.codonCoord_1=299;refseq.codonCoord_2=132;refseq.end_1=49029696;refseq.end_2=49029696;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=916;refseq.mrnaCoord_2=920;refseq.name2_1=DALRD3;refseq.name2_2=DALRD3;refseq.name_1=NM_001009996;refseq.name_2=NM_018114;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q299R;refseq.proteinCoordStr_2=p.Q132R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=49029696;refseq.start_2=49029696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr3 49042908 . T C 338.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=4329.42;QD=41.23;RankSumP=1.00000;SB=-1880.34;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2312A>G;refseq.codingCoordStr_2=c.2312A>G;refseq.codonCoord_1=771;refseq.codonCoord_2=771;refseq.end_1=49042908;refseq.end_2=49042908;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2553;refseq.mrnaCoord_2=2493;refseq.name2_1=QRICH1;refseq.name2_2=QRICH1;refseq.name_1=NM_017730;refseq.name_2=NM_198880;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N771S;refseq.proteinCoordStr_2=p.N771S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=174;refseq.spliceDist_2=174;refseq.start_1=49042908;refseq.start_2=49042908;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr3 49069439 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1198C>G;refseq.codingCoordStr_2=c.1198C>G;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=49069439;refseq.end_2=49069439;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1439;refseq.mrnaCoord_2=1379;refseq.name2_1=QRICH1;refseq.name2_2=QRICH1;refseq.name_1=NM_017730;refseq.name_2=NM_198880;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q400E;refseq.proteinCoordStr_2=p.Q400E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-141;refseq.spliceDist_2=-141;refseq.start_1=49069439;refseq.start_2=49069439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT 0/1 chr3 49069441 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1196T>G;refseq.codingCoordStr_2=c.1196T>G;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.end_1=49069441;refseq.end_2=49069441;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1437;refseq.mrnaCoord_2=1377;refseq.name2_1=QRICH1;refseq.name2_2=QRICH1;refseq.name_1=NM_017730;refseq.name_2=NM_198880;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V399G;refseq.proteinCoordStr_2=p.V399G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-143;refseq.spliceDist_2=-143;refseq.start_1=49069441;refseq.start_2=49069441;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 49116120 . G A 453.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=98.62;MQ0=0;OQ=4427.20;QD=39.53;RankSumP=1.00000;SB=-2216.91;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.399C>T;refseq.codonCoord=133;refseq.end=49116120;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_005051;refseq.name2=QARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.H133H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=24;refseq.start=49116120;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr3 49131477 . C G 178.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.38;MQ0=0;OQ=12275.25;QD=47.03;RankSumP=1.00000;SB=-5298.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.106G>C;refseq.codonCoord=36;refseq.end=49131477;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_006677;refseq.name2=USP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.D36H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-19;refseq.start=49131477;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr3 49133674 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5386A>C;refseq.codonCoord=1796;refseq.end=49133674;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5685;refseq.name=NM_002292;refseq.name2=LAMB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1796P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-124;refseq.start=49133674;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 49134277 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4944T>G;refseq.codonCoord=1648;refseq.end=49134277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5243;refseq.name=NM_002292;refseq.name2=LAMB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1648G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=21;refseq.start=49134277;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 49176352 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.294T>C;refseq.codonCoord=98;refseq.end=49176352;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_022903;refseq.name2=CCDC71;refseq.positionType=CDS;refseq.proteinCoordStr=p.P98P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=346;refseq.start=49176352;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 49268830 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.896C>G;refseq.codingCoordStr_2=c.896C>G;refseq.codonCoord_1=299;refseq.codonCoord_2=299;refseq.end_1=49268830;refseq.end_2=49268830;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=1283;refseq.name2_1=CCDC36;refseq.name2_2=CCDC36;refseq.name_1=NM_001135197;refseq.name_2=NM_178173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A299G;refseq.proteinCoordStr_2=p.A299G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=260;refseq.spliceDist_2=260;refseq.start_1=49268830;refseq.start_2=49268830;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr3 49269254 . C A 102.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=98.82;MQ0=0;OQ=7428.95;QD=39.94;RankSumP=1.00000;SB=-2021.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1320C>A;refseq.codingCoordStr_2=c.1320C>A;refseq.codonCoord_1=440;refseq.codonCoord_2=440;refseq.end_1=49269254;refseq.end_2=49269254;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1409;refseq.mrnaCoord_2=1707;refseq.name2_1=CCDC36;refseq.name2_2=CCDC36;refseq.name_1=NM_001135197;refseq.name_2=NM_178173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D440E;refseq.proteinCoordStr_2=p.D440E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=684;refseq.spliceDist_2=684;refseq.start_1=49269254;refseq.start_2=49269254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr3 49288982 . C T 117.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.01;HRun=1;HaplotypeScore=9.46;MQ=98.57;MQ0=0;OQ=8554.16;QD=42.77;RankSumP=1.00000;SB=-2599.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.328G>A;refseq.codonCoord=110;refseq.end=49288982;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_198562;refseq.name2=C3orf62;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-119;refseq.start=49288982;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr3 49318179 . G A 229.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.95;MQ0=0;OQ=12279.32;QD=41.21;RankSumP=1.00000;SB=-4610.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1101C>T;refseq.codingCoordStr_2=c.960C>T;refseq.codonCoord_1=367;refseq.codonCoord_2=320;refseq.end_1=49318179;refseq.end_2=49318179;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1039;refseq.name2_1=USP4;refseq.name2_2=USP4;refseq.name_1=NM_003363;refseq.name_2=NM_199443;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D367D;refseq.proteinCoordStr_2=p.D320D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=49318179;refseq.start_2=49318179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr3 49337373 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=2;HaplotypeScore=3.17;MQ=98.76;MQ0=0;OQ=10539.46;QD=40.69;RankSumP=1.00000;SB=-3517.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.591G>A;refseq.codingCoordStr_2=c.591G>A;refseq.codonCoord_1=197;refseq.codonCoord_2=197;refseq.end_1=49337373;refseq.end_2=49337373;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=670;refseq.mrnaCoord_2=670;refseq.name2_1=USP4;refseq.name2_2=USP4;refseq.name_1=NM_003363;refseq.name_2=NM_199443;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K197K;refseq.proteinCoordStr_2=p.K197K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=49337373;refseq.start_2=49337373;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr3 49369838 . G A 274.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=60.61;MQ0=103;OQ=3197.46;QD=17.47;RankSumP=1.00000;SB=-1042.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.599C>T;refseq.codingCoordStr_2=c.*581C>T;refseq.codonCoord_1=200;refseq.end_1=49369838;refseq.end_2=49369838;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=679;refseq.mrnaCoord_2=958;refseq.name2_1=GPX1;refseq.name2_2=GPX1;refseq.name_1=NM_000581;refseq.name_2=NM_201397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P200L;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCC;refseq.spliceDist_1=-226;refseq.spliceDist_2=-226;refseq.start_1=49369838;refseq.start_2=49369838;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTC;set=Intersection GT 1/1 chr3 49430132 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_2=c.1057T>C;refseq.codingCoordStr_3=c.925T>C;refseq.codingCoordStr_4=c.889T>C;refseq.codingCoordStr_5=c.1057T>C;refseq.codonCoord_2=353;refseq.codonCoord_3=309;refseq.codonCoord_4=297;refseq.codonCoord_5=353;refseq.end_1=49430132;refseq.end_2=49430132;refseq.end_3=49430132;refseq.end_4=49430132;refseq.end_5=49430132;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1271;refseq.mrnaCoord_2=1285;refseq.mrnaCoord_3=1153;refseq.mrnaCoord_4=1117;refseq.mrnaCoord_5=1285;refseq.name2_1=AMT;refseq.name2_2=AMT;refseq.name2_3=AMT;refseq.name2_4=AMT;refseq.name2_5=AMT;refseq.name_1=NR_028435;refseq.name_2=NM_000481;refseq.name_3=NM_001164710;refseq.name_4=NM_001164711;refseq.name_5=NM_001164712;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S353P;refseq.proteinCoordStr_3=p.S309P;refseq.proteinCoordStr_4=p.S297P;refseq.proteinCoordStr_5=p.S353P;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.start_1=49430132;refseq.start_2=49430132;refseq.start_3=49430132;refseq.start_4=49430132;refseq.start_5=49430132;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr3 49430136 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_2=c.1053C>G;refseq.codingCoordStr_3=c.921C>G;refseq.codingCoordStr_4=c.885C>G;refseq.codingCoordStr_5=c.1053C>G;refseq.codonCoord_2=351;refseq.codonCoord_3=307;refseq.codonCoord_4=295;refseq.codonCoord_5=351;refseq.end_1=49430136;refseq.end_2=49430136;refseq.end_3=49430136;refseq.end_4=49430136;refseq.end_5=49430136;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1267;refseq.mrnaCoord_2=1281;refseq.mrnaCoord_3=1149;refseq.mrnaCoord_4=1113;refseq.mrnaCoord_5=1281;refseq.name2_1=AMT;refseq.name2_2=AMT;refseq.name2_3=AMT;refseq.name2_4=AMT;refseq.name2_5=AMT;refseq.name_1=NR_028435;refseq.name_2=NM_000481;refseq.name_3=NM_001164710;refseq.name_4=NM_001164711;refseq.name_5=NM_001164712;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.C351W;refseq.proteinCoordStr_3=p.C307W;refseq.proteinCoordStr_4=p.C295W;refseq.proteinCoordStr_5=p.C351W;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.spliceDist_5=20;refseq.start_1=49430136;refseq.start_2=49430136;refseq.start_3=49430136;refseq.start_4=49430136;refseq.start_5=49430136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantAA_5=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;refseq.variantCodon_5=TGG;set=FilteredInAll GT 0/1 chr3 49430334 . C T 56.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=12.05;MQ=97.97;MQ0=0;OQ=3194.36;QD=35.49;RankSumP=1.00000;SB=-862.60;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_2=c.954G>A;refseq.codingCoordStr_3=c.822G>A;refseq.codingCoordStr_4=c.786G>A;refseq.codingCoordStr_5=c.954G>A;refseq.codonCoord_2=318;refseq.codonCoord_3=274;refseq.codonCoord_4=262;refseq.codonCoord_5=318;refseq.end_1=49430334;refseq.end_2=49430334;refseq.end_3=49430334;refseq.end_4=49430334;refseq.end_5=49430334;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1168;refseq.mrnaCoord_2=1182;refseq.mrnaCoord_3=1050;refseq.mrnaCoord_4=1014;refseq.mrnaCoord_5=1182;refseq.name2_1=AMT;refseq.name2_2=AMT;refseq.name2_3=AMT;refseq.name2_4=AMT;refseq.name2_5=AMT;refseq.name_1=NR_028435;refseq.name_2=NM_000481;refseq.name_3=NM_001164710;refseq.name_4=NM_001164711;refseq.name_5=NM_001164712;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.R318R;refseq.proteinCoordStr_3=p.R274R;refseq.proteinCoordStr_4=p.R262R;refseq.proteinCoordStr_5=p.R318R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.referenceCodon_5=CGG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.spliceDist_4=77;refseq.spliceDist_5=77;refseq.start_1=49430334;refseq.start_2=49430334;refseq.start_3=49430334;refseq.start_4=49430334;refseq.start_5=49430334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;refseq.variantCodon_4=CGA;refseq.variantCodon_5=CGA;set=Intersection GT 1/1 chr3 49438373 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.367383;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.370C>A;refseq.codonCoord=124;refseq.end=49438373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_032316;refseq.name2=NICN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-54;refseq.start=49438373;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr3 49523012 . C G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=4;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=2115.54;QD=47.01;RankSumP=1.00000;SB=-290.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.41C>G;refseq.codingCoordStr_2=c.41C>G;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=49523012;refseq.end_2=49523012;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=459;refseq.name2_1=DAG1;refseq.name2_2=DAG1;refseq.name_1=NM_001165928;refseq.name_2=NM_004393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S14W;refseq.proteinCoordStr_2=p.S14W;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=157;refseq.spliceDist_2=157;refseq.start_1=49523012;refseq.start_2=49523012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 1/1 chr3 49545204 . C T 442.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.13;MQ0=0;OQ=4683.04;QD=37.77;RankSumP=1.00000;SB=-1825.40;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2256C>T;refseq.codingCoordStr_2=c.2256C>T;refseq.codonCoord_1=752;refseq.codonCoord_2=752;refseq.end_1=49545204;refseq.end_2=49545204;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3035;refseq.mrnaCoord_2=2674;refseq.name2_1=DAG1;refseq.name2_2=DAG1;refseq.name_1=NM_001165928;refseq.name_2=NM_004393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H752H;refseq.proteinCoordStr_2=p.H752H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=1971;refseq.spliceDist_2=1971;refseq.start_1=49545204;refseq.start_2=49545204;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr3 49664214 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=22.03;MQ=96.65;MQ0=0;OQ=1811.45;QD=24.81;RankSumP=1.00000;SB=-168.22;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2221G>A;refseq.codonCoord=741;refseq.end=49664214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2335;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A741T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=235;refseq.start=49664214;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 49665203 . G A 322.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=2524.45;QD=40.07;RankSumP=1.00000;SB=-178.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3210G>A;refseq.codonCoord=1070;refseq.end=49665203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3324;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1070T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1224;refseq.start=49665203;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr3 49665500 . C T 247.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=8.77;MQ=98.61;MQ0=0;OQ=7040.88;QD=38.47;RankSumP=1.00000;SB=-2035.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3507C>T;refseq.codonCoord=1169;refseq.end=49665500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3621;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1169S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1521;refseq.start=49665500;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr3 49666639 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4646A>G;refseq.codonCoord=1549;refseq.end=49666639;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4760;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1549G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2660;refseq.start=49666639;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 49668543 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.81907e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.6550A>C;refseq.codonCoord=2184;refseq.end=49668543;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6664;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2184P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-2091;refseq.start=49668543;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 49674221 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.9939A>C;refseq.codonCoord=3313;refseq.end=49674221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10053;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3313R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-779;refseq.start=49674221;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr3 49674879 . T C 44 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=109;Dels=0.00;HRun=2;HaplotypeScore=8.81;MQ=97.72;MQ0=0;QD=0.36;RankSumP=4.17789e-06;SB=140.48;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.10597T>C;refseq.codonCoord=3533;refseq.end=49674879;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10711;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3533P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-121;refseq.start=49674879;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 49676987 . G A 423.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.65;MQ0=0;OQ=7501.42;QD=41.91;RankSumP=1.00000;SB=-3243.75;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.11736G>A;refseq.codonCoord=3912;refseq.end=49676987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11850;refseq.name=NM_003458;refseq.name2=BSN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3912T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=49676987;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr3 49689229 . T C 102.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=14.26;MQ=98.76;MQ0=0;OQ=16529.74;QD=36.73;RankSumP=1.00000;SB=-6338.96;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=49689229;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_001640;refseq.name2=APEH;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y284Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=16;refseq.start=49689229;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr3 49696536 . G A 293.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=86.73;MQ0=13;OQ=13966.74;QD=40.25;RankSumP=1.00000;SB=-3539.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2107C>T;refseq.codonCoord=703;refseq.end=49696536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2179;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R703C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=91;refseq.start=49696536;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 49696802 . C A 152.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=53.29;MQ0=41;OQ=10944.14;QD=32.48;RankSumP=1.00000;SB=-5031.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1965G>T;refseq.codonCoord=655;refseq.end=49696802;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2037;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R655R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-52;refseq.start=49696802;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr3 49698607 . G A 12.17 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=53.28;MQ0=12;QD=0.26;RankSumP=0.662662;SB=32.13;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1039C>T;refseq.codonCoord=347;refseq.end=49698607;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R347W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=23;refseq.start=49698607;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr3 49698827 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.242424;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.939T>C;refseq.codonCoord=313;refseq.end=49698827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T313T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-78;refseq.start=49698827;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr3 49699812 . T C 103.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=34.18;MQ0=25;OQ=5616.24;QD=26.62;RankSumP=1.00000;SB=-1015.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.459A>G;refseq.codonCoord=153;refseq.end=49699812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P153P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-12;refseq.start=49699812;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr3 49700025 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=73.62;MQ0=2;OQ=316.16;QD=1.41;SB=-1.27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.323G>A;refseq.codonCoord=108;refseq.end=49700025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R108H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-33;refseq.start=49700025;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:192,32:206:-96.94,-62.04,-702.81:99 chr3 49700038 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=74.30;MQ0=3;OQ=551.48;QD=2.38;SB=-214.77;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.310A>T;refseq.codonCoord=104;refseq.end=49700038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104S;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-46;refseq.start=49700038;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:194,37:219:-124.39,-65.95,-738.68:99 chr3 49700042 . G C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=74.25;MQ0=3;OQ=842.31;QD=3.63;SB=-367.96;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.306C>G;refseq.codonCoord=102;refseq.end=49700042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P102P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-50;refseq.start=49700042;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:195,37:214:-151.96,-64.44,-909.63:99 chr3 49700090 . G A 0.05 PASS AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=15.92;MQ=69.63;MQ0=9;OQ=227.05;QD=1.35;SB=14.47;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=49700090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N86N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=16;refseq.start=49700090;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=gatk GT:AD:DP:GL:GQ 0/1:144,23:109:-58.82,-32.83,-362.46:99 chr3 49701074 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.569220;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.55C>T;refseq.codonCoord=19;refseq.end=49701074;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_020998;refseq.name2=MST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-40;refseq.start=49701074;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr3 49724943 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2524C>G;refseq.codonCoord=842;refseq.end=49724943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2610;refseq.name=NM_022064;refseq.name2=RNF123;refseq.positionType=CDS;refseq.proteinCoordStr=p.L842V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=28;refseq.start=49724943;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr3 49724980 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=28.67;MQ=98.35;MQ0=0;OQ=9281.38;QD=30.94;RankSumP=1.00000;SB=-3888.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2561G>A;refseq.codonCoord=854;refseq.end=49724980;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2647;refseq.name=NM_022064;refseq.name2=RNF123;refseq.positionType=CDS;refseq.proteinCoordStr=p.R854H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=65;refseq.start=49724980;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr3 49730574 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1329A>C;refseq.codonCoord_2=443;refseq.end_1=49732937;refseq.end_2=49730574;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1669;refseq.name2_1=RNF123;refseq.name2_2=AMIGO3;refseq.name_1=NM_022064;refseq.name_2=NM_198722;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A443A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-1303;refseq.start_1=49728925;refseq.start_2=49730574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr3 49731726 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.177A>C;refseq.codonCoord_2=59;refseq.end_1=49732937;refseq.end_2=49731726;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=517;refseq.name2_1=RNF123;refseq.name2_2=AMIGO3;refseq.name_1=NM_022064;refseq.name_2=NM_198722;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L59F;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTA;refseq.spliceDist_2=517;refseq.start_1=49728925;refseq.start_2=49731726;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=FilteredInAll GT 1/0 chr3 49735043 . T C 221.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=7.30;MQ=98.15;MQ0=0;OQ=6886.55;QD=35.50;RankSumP=1.00000;SB=-3307.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.551A>G;refseq.codingCoordStr_2=c.551A>G;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.end_1=49735043;refseq.end_2=49735043;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=776;refseq.mrnaCoord_2=776;refseq.name2_1=GMPPB;refseq.name2_2=GMPPB;refseq.name_1=NM_013334;refseq.name_2=NM_021971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q184R;refseq.proteinCoordStr_2=p.Q184R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=49735043;refseq.start_2=49735043;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr3 49745374 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.-26A>C;refseq.codingCoordStr_2=c.470A>C;refseq.codonCoord_2=157;refseq.end_1=49745374;refseq.end_2=49745374;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=434;refseq.mrnaCoord_2=785;refseq.name2_1=IP6K1;refseq.name2_2=IP6K1;refseq.name_1=NM_001006115;refseq.name_2=NM_153273;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H157P;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=49745374;refseq.start_2=49745374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr3 49817276 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.000128082;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.716G>A;refseq.codonCoord=239;refseq.end=49817276;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_203370;refseq.name2=C3orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.R239K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-192;refseq.start=49817276;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr3 49822723 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1610C>G;refseq.codonCoord=537;refseq.end=49822723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1781;refseq.name=NM_003335;refseq.name2=UBA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A537G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-24;refseq.start=49822723;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr3 49844419 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=2.64219e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.971C>A;refseq.codonCoord=324;refseq.end=49844419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_005879;refseq.name2=TRAIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T324N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-67;refseq.start=49844419;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 0/1 chr3 49871956 . T G 99 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=34;Dels=0.00;HRun=2;HaplotypeScore=3.69;MQ=95.17;MQ0=0;QD=0.68;RankSumP=4.07387e-08;SB=26.11;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1305A>C;refseq.codonCoord=435;refseq.end=49871956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_024046;refseq.name2=CAMKV;refseq.positionType=CDS;refseq.proteinCoordStr=p.T435T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=363;refseq.start=49871956;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 49872006 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1255A>C;refseq.codonCoord=419;refseq.end=49872006;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_024046;refseq.name2=CAMKV;refseq.positionType=CDS;refseq.proteinCoordStr=p.T419P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=313;refseq.start=49872006;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 49872078 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1183A>C;refseq.codonCoord=395;refseq.end=49872078;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_024046;refseq.name2=CAMKV;refseq.positionType=CDS;refseq.proteinCoordStr=p.T395P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=241;refseq.start=49872078;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 49872102 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1159A>C;refseq.codonCoord=387;refseq.end=49872102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1352;refseq.name=NM_024046;refseq.name2=CAMKV;refseq.positionType=CDS;refseq.proteinCoordStr=p.T387P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=217;refseq.start=49872102;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 49903695 . T C 326.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.77;MQ0=0;OQ=6317.51;QD=37.83;RankSumP=1.00000;SB=-2907.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3583A>G;refseq.codonCoord=1195;refseq.end=49903695;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3847;refseq.name=NM_002447;refseq.name2=MST1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1195G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=49;refseq.start=49903695;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 49911032 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1642T>G;refseq.codonCoord=548;refseq.end=49911032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1906;refseq.name=NM_002447;refseq.name2=MST1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.C548G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-78;refseq.start=49911032;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr3 49923270 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.470T>G;refseq.codingCoordStr_2=c.956T>G;refseq.codonCoord_1=157;refseq.codonCoord_2=319;refseq.end_1=49923270;refseq.end_2=49923270;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=596;refseq.mrnaCoord_2=1082;refseq.name2_1=MON1A;refseq.name2_2=MON1A;refseq.name_1=NM_001142501;refseq.name_2=NM_032355;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V157G;refseq.proteinCoordStr_2=p.V319G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=49923270;refseq.start_2=49923270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 50078921 . G A 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.65;MQ0=0;OQ=1005.92;QD=33.53;RankSumP=1.00000;SB=-371.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1359G>A;refseq.codingCoordStr_2=c.2925G>A;refseq.codonCoord_1=453;refseq.codonCoord_2=975;refseq.end_1=50078921;refseq.end_2=50078921;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1660;refseq.mrnaCoord_2=3173;refseq.name2_1=RBM6;refseq.name2_2=RBM6;refseq.name_1=NM_001167582;refseq.name_2=NM_005777;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q453Q;refseq.proteinCoordStr_2=p.Q975Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=50078921;refseq.start_2=50078921;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr3 50087714 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1627A>G;refseq.codingCoordStr_2=c.3193A>G;refseq.codonCoord_1=543;refseq.codonCoord_2=1065;refseq.end_1=50087714;refseq.end_2=50087714;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1928;refseq.mrnaCoord_2=3441;refseq.name2_1=RBM6;refseq.name2_2=RBM6;refseq.name_1=NM_001167582;refseq.name_2=NM_005777;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R543G;refseq.proteinCoordStr_2=p.R1065G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=50087714;refseq.start_2=50087714;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 50089519 . C T 270.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=98.97;MQ0=0;OQ=7399.13;QD=42.04;RankSumP=1.00000;SB=-2337.80;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1755C>T;refseq.codingCoordStr_2=c.3321C>T;refseq.codonCoord_1=585;refseq.codonCoord_2=1107;refseq.end_1=50089519;refseq.end_2=50089519;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2056;refseq.mrnaCoord_2=3569;refseq.name2_1=RBM6;refseq.name2_2=RBM6;refseq.name_1=NM_001167582;refseq.name_2=NM_005777;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y585Y;refseq.proteinCoordStr_2=p.Y1107Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=50089519;refseq.start_2=50089519;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr3 50119955 . T C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=1;HaplotypeScore=8.13;MQ=98.69;MQ0=0;OQ=18651.72;QD=41.08;RankSumP=1.00000;SB=-8948.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.990T>C;refseq.codonCoord=330;refseq.end=50119955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_005778;refseq.name2=RBM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A330A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=37;refseq.start=50119955;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 50128360 . T C 203.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=8.77;MQ=98.53;MQ0=0;OQ=15379.52;QD=39.23;RankSumP=1.00000;SB=-5482.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2037T>C;refseq.codonCoord=679;refseq.end=50128360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2185;refseq.name=NM_005778;refseq.name2=RBM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y679Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=18;refseq.start=50128360;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr3 50172101 . C T 101.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=18.27;MQ=98.50;MQ0=0;OQ=4308.43;QD=17.88;RankSumP=0.00911925;SB=-1314.13;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.42C>T;refseq.codonCoord=14;refseq.end=50172101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_004186;refseq.name2=SEMA3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.T14T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-71;refseq.start=50172101;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 0/1 chr3 50197930 . T A 449.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.01;MQ0=0;OQ=4632.52;QD=38.60;RankSumP=1.00000;SB=-2209.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1507T>A;refseq.codonCoord=503;refseq.end=50197930;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1705;refseq.name=NM_004186;refseq.name2=SEMA3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.L503M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-39;refseq.start=50197930;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr3 50200229 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2035A>C;refseq.codonCoord=679;refseq.end=50200229;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2233;refseq.name=NM_004186;refseq.name2=SEMA3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.T679P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=88;refseq.start=50200229;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 50307701 . G A 178.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=99.00;MQ0=0;OQ=1060.55;QD=14.94;RankSumP=0.132140;SB=-238.49;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.337C>T;refseq.codonCoord=113;refseq.end=50307701;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_003549;refseq.name2=HYAL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H113Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=354;refseq.start=50307701;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr3 50307892 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.146A>C;refseq.codonCoord=49;refseq.end=50307892;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_003549;refseq.name2=HYAL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H49P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=163;refseq.start=50307892;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 50332873 . A C 104.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=99.00;MQ0=0;OQ=1527.76;QD=31.83;RankSumP=1.00000;SB=-653.06;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.52T>G;refseq.codingCoordStr_2=c.52T>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=50332873;refseq.end_2=50332873;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=704;refseq.name2_1=HYAL2;refseq.name2_2=HYAL2;refseq.name_1=NM_003773;refseq.name_2=NM_033158;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S18A;refseq.proteinCoordStr_2=p.S18A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.start_1=50332873;refseq.start_2=50332873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr3 50355787 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.465T>G;refseq.codonCoord=155;refseq.end=50355787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_015896;refseq.name2=ZMYND10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G155G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-46;refseq.start=50355787;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 50355790 . A C 67 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=95.01;MQ0=0;QD=0.51;RankSumP=1.69368e-09;SB=80.25;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.462T>G;refseq.codonCoord=154;refseq.end=50355790;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_015896;refseq.name2=ZMYND10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C154W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-49;refseq.start=50355790;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr3 50379050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2600A>C;refseq.codingCoordStr_2=c.2621A>C;refseq.codingCoordStr_3=c.2600A>C;refseq.codonCoord_1=867;refseq.codonCoord_2=874;refseq.codonCoord_3=867;refseq.end_1=50379050;refseq.end_2=50379050;refseq.end_3=50379050;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2638;refseq.mrnaCoord_2=2659;refseq.mrnaCoord_3=2638;refseq.name2_1=CACNA2D2;refseq.name2_2=CACNA2D2;refseq.name2_3=CACNA2D2;refseq.name_1=NM_001005505;refseq.name_2=NM_001174051;refseq.name_3=NM_006030;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N867T;refseq.proteinCoordStr_2=p.N874T;refseq.proteinCoordStr_3=p.N867T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=50379050;refseq.start_2=50379050;refseq.start_3=50379050;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr3 50572096 . G A 340.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=1263.94;QD=39.50;RankSumP=1.00000;SB=-312.41;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.485C>T;refseq.codingCoordStr_2=c.485C>T;refseq.codingCoordStr_3=c.200C>T;refseq.codingCoordStr_4=c.485C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.codonCoord_3=67;refseq.codonCoord_4=162;refseq.end_1=50572096;refseq.end_2=50572096;refseq.end_3=50572096;refseq.end_4=50572096;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=977;refseq.mrnaCoord_2=736;refseq.mrnaCoord_3=557;refseq.mrnaCoord_4=1025;refseq.name2_1=C3orf18;refseq.name2_2=C3orf18;refseq.name2_3=C3orf18;refseq.name2_4=C3orf18;refseq.name_1=NM_001171740;refseq.name_2=NM_001171741;refseq.name_3=NM_001171743;refseq.name_4=NM_016210;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A162V;refseq.proteinCoordStr_2=p.A162V;refseq.proteinCoordStr_3=p.A67V;refseq.proteinCoordStr_4=p.A162V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.spliceDist_4=77;refseq.start_1=50572096;refseq.start_2=50572096;refseq.start_3=50572096;refseq.start_4=50572096;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 1/1 chr3 50584628 . T G 293.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.76;MQ0=0;OQ=1734.38;QD=35.40;RankSumP=1.00000;SB=-435.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.399T>G;refseq.codonCoord=133;refseq.end=50584628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_016173;refseq.name2=HEMK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-16;refseq.start=50584628;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr3 50620216 . T G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.503497;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.654A>C;refseq.codingCoordStr_2=c.603A>C;refseq.codonCoord_1=218;refseq.codonCoord_2=201;refseq.end_1=50620216;refseq.end_2=50620216;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=784;refseq.name2_1=CISH;refseq.name2_2=CISH;refseq.name_1=NM_013324;refseq.name_2=NM_145071;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P218P;refseq.proteinCoordStr_2=p.P201P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=362;refseq.spliceDist_2=362;refseq.start_1=50620216;refseq.start_2=50620216;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr3 50654736 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.473A>C;refseq.codonCoord=158;refseq.end=50654736;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_004635;refseq.name2=MAPKAPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H158P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-32;refseq.start=50654736;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 51683461 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.101T>G;refseq.codingCoordStr_3=c.101T>G;refseq.codonCoord_2=34;refseq.codonCoord_3=34;refseq.end_1=51693458;refseq.end_2=51683461;refseq.end_3=51683461;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=270;refseq.mrnaCoord_3=218;refseq.name2_1=TEX264;refseq.name2_2=TEX264;refseq.name2_3=TEX264;refseq.name_1=NR_024012;refseq.name_2=NM_001129884;refseq.name_3=NM_015926;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V34G;refseq.proteinCoordStr_3=p.V34G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.start_1=51680355;refseq.start_2=51683461;refseq.start_3=51683461;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr3 51726822 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2494A>C;refseq.codingCoordStr_2=c.640A>C;refseq.codonCoord_1=832;refseq.codonCoord_2=214;refseq.end_1=51726822;refseq.end_2=51726822;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2733;refseq.mrnaCoord_2=1309;refseq.name2_1=GRM2;refseq.name2_2=GRM2;refseq.name_1=NM_000839;refseq.name_2=NM_001130063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T832P;refseq.proteinCoordStr_2=p.T214P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=51726822;refseq.start_2=51726822;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 51953260 . A G 103.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.77;MQ0=0;OQ=4331.74;QD=32.57;RankSumP=1.00000;SB=-2148.58;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.320A>G;refseq.codingCoordStr_2=c.299A>G;refseq.codonCoord_1=107;refseq.codonCoord_2=100;refseq.end_1=51953260;refseq.end_2=51953260;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=665;refseq.mrnaCoord_2=670;refseq.name2_1=PARP3;refseq.name2_2=PARP3;refseq.name_1=NM_001003931;refseq.name_2=NM_005485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H107R;refseq.proteinCoordStr_2=p.H100R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=51953260;refseq.start_2=51953260;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr3 51965355 . A G 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=94.61;MQ0=0;OQ=1076.58;QD=25.63;RankSumP=1.00000;SB=-208.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.647A>G;refseq.codonCoord=216;refseq.end=51965355;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_080865;refseq.name2=GPR62;refseq.positionType=CDS;refseq.proteinCoordStr=p.H216R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=986;refseq.start=51965355;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr3 51990020 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.762C>A;refseq.codonCoord=254;refseq.end=51990020;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_015407;refseq.name2=ABHD14A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H254Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=129;refseq.start=51990020;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr3 52002893 . T G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.307895;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.392A>C;refseq.codonCoord=131;refseq.end=52002893;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_000992;refseq.name2=RPL29;refseq.positionType=CDS;refseq.proteinCoordStr=p.D131A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-210;refseq.start=52002893;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr3 52002922 . T G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.739076;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.363A>C;refseq.codonCoord=121;refseq.end=52002922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_000992;refseq.name2=RPL29;refseq.positionType=CDS;refseq.proteinCoordStr=p.P121P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-239;refseq.start=52002922;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr3 52208420 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.123C>A;refseq.codingCoordStr_2=c.123C>A;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=52208420;refseq.end_2=52208420;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=460;refseq.mrnaCoord_2=311;refseq.name2_1=ALAS1;refseq.name2_2=ALAS1;refseq.name_1=NM_000688;refseq.name_2=NM_199166;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A41A;refseq.proteinCoordStr_2=p.A41A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=52208420;refseq.start_2=52208420;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/0 chr3 52231708 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.31825e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1664A>C;refseq.codonCoord=555;refseq.end=52231708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_017442;refseq.name2=TLR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N555T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1571;refseq.start=52231708;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 52413619 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=3.56010e-08;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1140T>G;refseq.codonCoord=380;refseq.end=52413619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_004656;refseq.name2=BAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G380G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=24;refseq.start=52413619;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 52423091 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=177;Dels=0.00;HRun=0;HaplotypeScore=13.98;MQ=98.81;MQ0=0;OQ=2779.68;QD=15.70;RankSumP=0.355997;SB=-1339.22;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.81G>A;refseq.codingCoordStr_2=c.81G>A;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=52423091;refseq.end_2=52423091;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=887;refseq.mrnaCoord_2=887;refseq.name2_1=PHF7;refseq.name2_2=PHF7;refseq.name_1=NM_016483;refseq.name_2=NM_173341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P27P;refseq.proteinCoordStr_2=p.P27P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=52423091;refseq.start_2=52423091;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr3 52428933 . C T 86.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=4177.97;QD=40.96;RankSumP=1.00000;SB=-1992.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.231C>T;refseq.codingCoordStr_2=c.231C>T;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=52428933;refseq.end_2=52428933;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1037;refseq.mrnaCoord_2=1037;refseq.name2_1=PHF7;refseq.name2_2=PHF7;refseq.name_1=NM_016483;refseq.name_2=NM_173341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G77G;refseq.proteinCoordStr_2=p.G77G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=52428933;refseq.start_2=52428933;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr3 52467747 . T C 308 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=4799.34;QD=38.70;RankSumP=1.00000;SB=-2355.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.207T>C;refseq.codonCoord=69;refseq.end=52467747;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.N69N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=30;refseq.start=52467747;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 52485632 . G A 317.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.58;MQ0=0;OQ=12155.35;QD=39.21;RankSumP=1.00000;SB=-4679.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.895G>A;refseq.codonCoord=299;refseq.end=52485632;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V299I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-24;refseq.start=52485632;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr3 52497279 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2731T>G;refseq.codonCoord=911;refseq.end=52497279;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2865;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L911V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-383;refseq.start=52497279;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr3 52498445 . C T 362.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=99.00;MQ0=0;OQ=2546.65;QD=37.45;RankSumP=1.00000;SB=-395.53;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3167C>T;refseq.codonCoord=1056;refseq.end=52498445;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3301;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1056V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=54;refseq.start=52498445;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 52501435 . T G 45.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=100;Dels=0.00;HRun=2;HaplotypeScore=5.30;MQ=97.44;MQ0=0;QD=0.45;RankSumP=0.00000;SB=167.56;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4412T>G;refseq.codonCoord=1471;refseq.end=52501435;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4546;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1471G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=508;refseq.start=52501435;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 52501538 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=1;RankSumP=0.596218;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4515G>A;refseq.codonCoord=1505;refseq.end=52501538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4649;refseq.name=NM_007184;refseq.name2=NISCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.*1505*;refseq.referenceAA=Stop;refseq.referenceCodon=TAG;refseq.spliceDist=-591;refseq.start=52501538;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr3 52515813 . T C 350.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=98.86;MQ0=0;OQ=4424.95;QD=35.40;RankSumP=1.00000;SB=-682.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1896T>C;refseq.codonCoord=632;refseq.end=52515813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1970;refseq.name=NM_015136;refseq.name2=STAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G632G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=66;refseq.start=52515813;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 52519510 . A G 189 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=19.06;MQ=98.12;MQ0=0;OQ=4768.55;QD=22.28;RankSumP=1.00000;SB=-2087.70;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2734A>G;refseq.codonCoord=912;refseq.end=52519510;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2808;refseq.name=NM_015136;refseq.name2=STAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M912V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-54;refseq.start=52519510;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 52523858 . C T 183.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=99.00;MQ0=0;OQ=940.26;QD=15.41;RankSumP=0.518590;SB=-341.85;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3780C>T;refseq.codonCoord=1260;refseq.end=52523858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3854;refseq.name=NM_015136;refseq.name2=STAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1260C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-28;refseq.start=52523858;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr3 52529344 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=391;Dels=0.00;HRun=2;HaplotypeScore=9.20;MQ=98.87;MQ0=0;OQ=18313.86;QD=46.84;RankSumP=1.00000;SB=-5861.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5497G>C;refseq.codonCoord=1833;refseq.end=52529344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5571;refseq.name=NM_015136;refseq.name2=STAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1833P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=52529344;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr3 52536348 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1119+2;refseq.codingCoordStr_2=c.1008+2;refseq.end_1=52536348;refseq.end_2=52536348;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=NT5DC2;refseq.name2_2=NT5DC2;refseq.name_1=NM_001134231;refseq.name_2=NM_022908;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=52536348;refseq.start_2=52536348;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr3 52695851 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.40A>C;refseq.codingCoordStr_2=c.4A>C;refseq.codingCoordStr_3=c.4A>C;refseq.codonCoord_1=14;refseq.codonCoord_2=2;refseq.codonCoord_3=2;refseq.end_1=52695851;refseq.end_2=52695851;refseq.end_3=52695851;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=213;refseq.mrnaCoord_2=310;refseq.mrnaCoord_3=163;refseq.name2_1=GNL3;refseq.name2_2=GNL3;refseq.name2_3=GNL3;refseq.name_1=NM_014366;refseq.name_2=NM_206825;refseq.name_3=NM_206826;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T14P;refseq.proteinCoordStr_2=p.T2P;refseq.proteinCoordStr_3=p.T2P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=52695851;refseq.start_2=52695851;refseq.start_3=52695851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr3 52761336 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1020A>C;refseq.codonCoord=340;refseq.end=52761336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1209;refseq.name=NM_003157;refseq.name2=NEK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S340S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=57;refseq.start=52761336;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr3 52833909 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.865A>G;refseq.codingCoordStr_2=c.865A>G;refseq.codonCoord_1=289;refseq.codonCoord_2=289;refseq.end_1=52833909;refseq.end_2=52833909;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=924;refseq.mrnaCoord_2=924;refseq.name2_1=ITIH4;refseq.name2_2=ITIH4;refseq.name_1=NM_001166449;refseq.name_2=NM_002218;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K289E;refseq.proteinCoordStr_2=p.K289E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=52833909;refseq.start_2=52833909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr3 52861735 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.229C>A;refseq.codonCoord=77;refseq.end=52861735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_198563;refseq.name2=TMEM110;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q77K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=20;refseq.start=52861735;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr3 53100962 . T C 380.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=6697.96;QD=37.84;RankSumP=1.00000;SB=-2775.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1623A>G;refseq.codonCoord=541;refseq.end=53100962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1677;refseq.name=NM_052859;refseq.name2=RFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T541T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=165;refseq.start=53100962;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr3 53113134 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.977C>G;refseq.codonCoord=326;refseq.end=53113134;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_052859;refseq.name2=RFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A326G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=20;refseq.start=53113134;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr3 53197801 . C T 192.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=8.57;MQ=98.81;MQ0=0;OQ=13098.08;QD=42.53;RankSumP=1.00000;SB=-5425.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1441C>T;refseq.codingCoordStr_2=c.1441C>T;refseq.codonCoord_1=481;refseq.codonCoord_2=481;refseq.end_1=53197801;refseq.end_2=53197801;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1794;refseq.mrnaCoord_2=1682;refseq.name2_1=PRKCD;refseq.name2_2=PRKCD;refseq.name_1=NM_006254;refseq.name_2=NM_212539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L481L;refseq.proteinCoordStr_2=p.L481L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=53197801;refseq.start_2=53197801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr3 53198967 . C G 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=2;HaplotypeScore=7.43;MQ=98.72;MQ0=0;OQ=8196.08;QD=45.53;RankSumP=1.00000;SB=-3493.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1782C>G;refseq.codingCoordStr_2=c.1782C>G;refseq.codonCoord_1=594;refseq.codonCoord_2=594;refseq.end_1=53198967;refseq.end_2=53198967;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2135;refseq.mrnaCoord_2=2023;refseq.name2_1=PRKCD;refseq.name2_2=PRKCD;refseq.name_1=NM_006254;refseq.name_2=NM_212539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T594T;refseq.proteinCoordStr_2=p.T594T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=53198967;refseq.start_2=53198967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr3 53199042 . T C 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=2;HaplotypeScore=10.19;MQ=98.40;MQ0=0;OQ=6413.22;QD=40.08;RankSumP=1.00000;SB=-2933.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1857T>C;refseq.codingCoordStr_2=c.1857T>C;refseq.codonCoord_1=619;refseq.codonCoord_2=619;refseq.end_1=53199042;refseq.end_2=53199042;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2210;refseq.mrnaCoord_2=2098;refseq.name2_1=PRKCD;refseq.name2_2=PRKCD;refseq.name_1=NM_006254;refseq.name_2=NM_212539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P619P;refseq.proteinCoordStr_2=p.P619P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=53199042;refseq.start_2=53199042;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr3 53675499 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1013T>G;refseq.codingCoordStr_2=c.1013T>G;refseq.codingCoordStr_3=c.1013T>G;refseq.codonCoord_1=338;refseq.codonCoord_2=338;refseq.codonCoord_3=338;refseq.end_1=53675499;refseq.end_2=53675499;refseq.end_3=53675499;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1176;refseq.mrnaCoord_2=1176;refseq.mrnaCoord_3=1176;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V338G;refseq.proteinCoordStr_2=p.V338G;refseq.proteinCoordStr_3=p.V338G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.start_1=53675499;refseq.start_2=53675499;refseq.start_3=53675499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr3 53675590 . T C 182.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.50;MQ0=0;OQ=815.97;QD=16.32;RankSumP=0.656111;SB=-217.96;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1104T>C;refseq.codingCoordStr_2=c.1104T>C;refseq.codingCoordStr_3=c.1104T>C;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.codonCoord_3=368;refseq.end_1=53675590;refseq.end_2=53675590;refseq.end_3=53675590;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1267;refseq.mrnaCoord_2=1267;refseq.mrnaCoord_3=1267;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D368D;refseq.proteinCoordStr_2=p.D368D;refseq.proteinCoordStr_3=p.D368D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=53675590;refseq.start_2=53675590;refseq.start_3=53675590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr3 53731461 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1646T>G;refseq.codingCoordStr_2=c.1586T>G;refseq.codingCoordStr_3=c.1586T>G;refseq.codonCoord_1=549;refseq.codonCoord_2=529;refseq.codonCoord_3=529;refseq.end_1=53731461;refseq.end_2=53731461;refseq.end_3=53731461;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1809;refseq.mrnaCoord_2=1749;refseq.mrnaCoord_3=1749;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V549G;refseq.proteinCoordStr_2=p.V529G;refseq.proteinCoordStr_3=p.V529G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=53731461;refseq.start_2=53731461;refseq.start_3=53731461;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr3 53736010 . C A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.193468;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2225C>A;refseq.codingCoordStr_2=c.2165C>A;refseq.codingCoordStr_3=c.2165C>A;refseq.codonCoord_1=742;refseq.codonCoord_2=722;refseq.codonCoord_3=722;refseq.end_1=53736010;refseq.end_2=53736010;refseq.end_3=53736010;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2388;refseq.mrnaCoord_2=2328;refseq.mrnaCoord_3=2328;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S742Y;refseq.proteinCoordStr_2=p.S722Y;refseq.proteinCoordStr_3=p.S722Y;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=53736010;refseq.start_2=53736010;refseq.start_3=53736010;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=FilteredInAll GT 1/0 chr3 53814065 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=384;Dels=0.00;HRun=1;HaplotypeScore=91.40;MQ=97.67;MQ0=0;OQ=338.80;QD=0.88;RankSumP=0.00000;SB=504.59;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.5661C>A;refseq.codingCoordStr_2=c.5529C>A;refseq.codingCoordStr_3=c.5601C>A;refseq.codonCoord_1=1887;refseq.codonCoord_2=1843;refseq.codonCoord_3=1867;refseq.end_1=53814065;refseq.end_2=53814065;refseq.end_3=53814065;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5824;refseq.mrnaCoord_2=5692;refseq.mrnaCoord_3=5764;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y1887*;refseq.proteinCoordStr_2=p.Y1843*;refseq.proteinCoordStr_3=p.Y1867*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=53814065;refseq.start_2=53814065;refseq.start_3=53814065;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr3 53814066 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.5662T>A;refseq.codingCoordStr_2=c.5530T>A;refseq.codingCoordStr_3=c.5602T>A;refseq.codonCoord_1=1888;refseq.codonCoord_2=1844;refseq.codonCoord_3=1868;refseq.end_1=53814066;refseq.end_2=53814066;refseq.end_3=53814066;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5825;refseq.mrnaCoord_2=5693;refseq.mrnaCoord_3=5765;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y1888N;refseq.proteinCoordStr_2=p.Y1844N;refseq.proteinCoordStr_3=p.Y1868N;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=53814066;refseq.start_2=53814066;refseq.start_3=53814066;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 1/0 chr3 53814116 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.5712C>A;refseq.codingCoordStr_2=c.5580C>A;refseq.codingCoordStr_3=c.5652C>A;refseq.codonCoord_1=1904;refseq.codonCoord_2=1860;refseq.codonCoord_3=1884;refseq.end_1=53814116;refseq.end_2=53814116;refseq.end_3=53814116;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5875;refseq.mrnaCoord_2=5743;refseq.mrnaCoord_3=5815;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y1904*;refseq.proteinCoordStr_2=p.Y1860*;refseq.proteinCoordStr_3=p.Y1884*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=53814116;refseq.start_2=53814116;refseq.start_3=53814116;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr3 53820276 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=345;Dels=0.00;HRun=1;HaplotypeScore=23.15;MQ=98.90;MQ0=0;OQ=6163.38;QD=17.86;RankSumP=0.411976;SB=-2186.19;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.6349G>A;refseq.codingCoordStr_2=c.6217G>A;refseq.codingCoordStr_3=c.6289G>A;refseq.codonCoord_1=2117;refseq.codonCoord_2=2073;refseq.codonCoord_3=2097;refseq.end_1=53820276;refseq.end_2=53820276;refseq.end_3=53820276;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6512;refseq.mrnaCoord_2=6380;refseq.mrnaCoord_3=6452;refseq.name2_1=CACNA1D;refseq.name2_2=CACNA1D;refseq.name2_3=CACNA1D;refseq.name_1=NM_000720;refseq.name_2=NM_001128839;refseq.name_3=NM_001128840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D2117N;refseq.proteinCoordStr_2=p.D2073N;refseq.proteinCoordStr_3=p.D2097N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=97;refseq.spliceDist_2=97;refseq.spliceDist_3=97;refseq.start_1=53820276;refseq.start_2=53820276;refseq.start_3=53820276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr3 53831693 . C T 103.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.39;MQ0=0;OQ=1460.74;QD=15.88;RankSumP=0.364514;SB=-320.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.720G>A;refseq.codonCoord=240;refseq.end=53831693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_018397;refseq.name2=CHDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A240A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=17;refseq.start=53831693;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr3 53832716 . C T 40.13 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=13.38;RankSumP=0.166667;SB=-41.55;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.360G>A;refseq.codonCoord=120;refseq.end=53832716;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_018397;refseq.name2=CHDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L120L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-344;refseq.start=53832716;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT 0/1 chr3 53858762 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=98.86;MQ0=0;OQ=1065.88;QD=14.02;RankSumP=0.383048;SB=-303.17;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.126C>G;refseq.codonCoord=42;refseq.end=53858762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_018725;refseq.name2=IL17RB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P42P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=41;refseq.start=53858762;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 53861952 . C T 178.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=98.97;MQ0=0;OQ=3068.41;QD=16.59;RankSumP=0.0614840;SB=-1343.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.369C>T;refseq.codonCoord=123;refseq.end=53861952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_018725;refseq.name2=IL17RB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y123Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=15;refseq.start=53861952;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr3 53880348 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=10.83;MQ=98.61;MQ0=0;OQ=5932.31;QD=21.73;RankSumP=0.430860;SB=-1961.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1518A>G;refseq.codonCoord=506;refseq.end=53880348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1577;refseq.name=NM_022899;refseq.name2=ACTR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G506G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-50;refseq.start=53880348;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr3 53881553 . G A 190.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=8.77;MQ=98.61;MQ0=0;OQ=2677.68;QD=16.63;RankSumP=0.0199752;SB=-1201.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1200C>T;refseq.codonCoord=400;refseq.end=53881553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1259;refseq.name=NM_022899;refseq.name2=ACTR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I400I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=39;refseq.start=53881553;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr3 53891170 . A G 63.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=55.84;QD=13.96;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.chr=chr3;refseq.codingCoordStr=c.-2T>C;refseq.end=53891170;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=58;refseq.name=NM_022899;refseq.name2=ACTR8;refseq.positionType=utr5;refseq.spliceDist=58;refseq.start=53891170;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 1/1 chr3 56602088 . A G 459.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.95;MQ0=0;OQ=7448.88;QD=38.80;RankSumP=1.00000;SB=-2064.24;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.885A>G;refseq.codingCoordStr_3=c.987A>G;refseq.codonCoord_2=295;refseq.codonCoord_3=329;refseq.end_1=56602088;refseq.end_2=56602088;refseq.end_3=56602088;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1055;refseq.mrnaCoord_2=1055;refseq.mrnaCoord_3=1074;refseq.name2_1=CCDC66;refseq.name2_2=CCDC66;refseq.name2_3=CCDC66;refseq.name_1=NR_024460;refseq.name_2=NM_001012506;refseq.name_3=NM_001141947;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q295Q;refseq.proteinCoordStr_3=p.Q329Q;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=56602088;refseq.start_2=56602088;refseq.start_3=56602088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr3 56602638 . A G 232.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.79;MQ0=0;OQ=9067.35;QD=37.31;RankSumP=1.00000;SB=-4282.05;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1046A>G;refseq.codingCoordStr_3=c.1148A>G;refseq.codonCoord_2=349;refseq.codonCoord_3=383;refseq.end_1=56602638;refseq.end_2=56602638;refseq.end_3=56602638;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1216;refseq.mrnaCoord_2=1216;refseq.mrnaCoord_3=1235;refseq.name2_1=CCDC66;refseq.name2_2=CCDC66;refseq.name2_3=CCDC66;refseq.name_1=NR_024460;refseq.name_2=NM_001012506;refseq.name_3=NM_001141947;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q349R;refseq.proteinCoordStr_3=p.Q383R;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=56602638;refseq.start_2=56602638;refseq.start_3=56602638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr3 56603071 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=613;Dels=0.00;HRun=1;HaplotypeScore=24.78;MQ=98.86;MQ0=0;OQ=26205.10;QD=42.75;RankSumP=1.00000;SB=-10274.13;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1277G>A;refseq.codingCoordStr_3=c.1379G>A;refseq.codonCoord_2=426;refseq.codonCoord_3=460;refseq.end_1=56603071;refseq.end_2=56603071;refseq.end_3=56603071;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1447;refseq.mrnaCoord_2=1447;refseq.mrnaCoord_3=1466;refseq.name2_1=CCDC66;refseq.name2_2=CCDC66;refseq.name2_3=CCDC66;refseq.name_1=NR_024460;refseq.name_2=NM_001012506;refseq.name_3=NM_001141947;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R426Q;refseq.proteinCoordStr_3=p.R460Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=56603071;refseq.start_2=56603071;refseq.start_3=56603071;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr3 56626207 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1962.32;QD=15.83;RankSumP=0.330861;SB=-547.59;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1769A>G;refseq.codingCoordStr_3=c.1871A>G;refseq.codonCoord_2=590;refseq.codonCoord_3=624;refseq.end_1=56626207;refseq.end_2=56626207;refseq.end_3=56626207;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1939;refseq.mrnaCoord_2=1939;refseq.mrnaCoord_3=1958;refseq.name2_1=CCDC66;refseq.name2_2=CCDC66;refseq.name2_3=CCDC66;refseq.name_1=NR_024460;refseq.name_2=NM_001012506;refseq.name_3=NM_001141947;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N590S;refseq.proteinCoordStr_3=p.N624S;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=56626207;refseq.start_2=56626207;refseq.start_3=56626207;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr3 56810801 . G A 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.50;MQ0=0;OQ=278.37;QD=9.60;RankSumP=0.679975;SB=-144.57;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.66C>T;refseq.codonCoord_2=22;refseq.end_1=56891349;refseq.end_2=56810801;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=235;refseq.name2_1=ARHGEF3;refseq.name2_2=ARHGEF3;refseq.name_1=NM_001128615;refseq.name_2=NM_019555;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P22P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-31;refseq.start_1=56782895;refseq.start_2=56810801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr3 57236987 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.36G>C;refseq.codonCoord=12;refseq.end=57236987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_012096;refseq.name2=APPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T12T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-19;refseq.start=57236987;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr3 57469178 . A C 274.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.54;MQ0=0;OQ=3856.58;QD=21.67;RankSumP=0.251467;SB=-1402.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.672T>G;refseq.codingCoordStr_2=c.672T>G;refseq.codonCoord_1=224;refseq.codonCoord_2=224;refseq.end_1=57469178;refseq.end_2=57469178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=853;refseq.mrnaCoord_2=853;refseq.name2_1=DNAH12;refseq.name2_2=DNAH12;refseq.name_1=NM_178504;refseq.name_2=NM_198564;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D224E;refseq.proteinCoordStr_2=p.D224E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=57469178;refseq.start_2=57469178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr3 57517213 . C T 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=95.96;MQ0=0;OQ=201.87;QD=9.18;RankSumP=0.724009;SB=-7.00;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.67C>T;refseq.codonCoord=23;refseq.end=57517213;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_177966;refseq.name2=PDE12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R23W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=193;refseq.start=57517213;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr3 57621555 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.60457e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.671A>C;refseq.codonCoord=224;refseq.end=57621555;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_152678;refseq.name2=FAM116A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H224P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-29;refseq.start=57621555;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 58056928 . T C 351.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=11.43;MQ=98.56;MQ0=0;OQ=6557.47;QD=18.68;RankSumP=3.23072e-05;SB=-2322.48;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.927T>C;refseq.codingCoordStr_2=c.927T>C;refseq.codingCoordStr_3=c.927T>C;refseq.codingCoordStr_4=c.927T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.codonCoord_3=309;refseq.codonCoord_4=309;refseq.end_1=58056928;refseq.end_2=58056928;refseq.end_3=58056928;refseq.end_4=58056928;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1092;refseq.mrnaCoord_2=1092;refseq.mrnaCoord_3=1092;refseq.mrnaCoord_4=1092;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S309S;refseq.proteinCoordStr_2=p.S309S;refseq.proteinCoordStr_3=p.S309S;refseq.proteinCoordStr_4=p.S309S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=58056928;refseq.start_2=58056928;refseq.start_3=58056928;refseq.start_4=58056928;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=filterInsoap-gatk GT 1/0 chr3 58084202 . G A 202.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=98.90;MQ0=0;OQ=2139.92;QD=16.59;RankSumP=0.331431;SB=-842.92;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.3469G>A;refseq.codingCoordStr_2=c.3469G>A;refseq.codingCoordStr_3=c.3469G>A;refseq.codingCoordStr_4=c.3469G>A;refseq.codonCoord_1=1157;refseq.codonCoord_2=1157;refseq.codonCoord_3=1157;refseq.codonCoord_4=1157;refseq.end_1=58084202;refseq.end_2=58084202;refseq.end_3=58084202;refseq.end_4=58084202;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3634;refseq.mrnaCoord_2=3634;refseq.mrnaCoord_3=3634;refseq.mrnaCoord_4=3634;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D1157N;refseq.proteinCoordStr_2=p.D1157N;refseq.proteinCoordStr_3=p.D1157N;refseq.proteinCoordStr_4=p.D1157N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-256;refseq.spliceDist_2=-256;refseq.spliceDist_3=-256;refseq.spliceDist_4=-256;refseq.start_1=58084202;refseq.start_2=58084202;refseq.start_3=58084202;refseq.start_4=58084202;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 1/0 chr3 58087480 . A G 323.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.84;MQ0=0;OQ=2438.67;QD=36.40;RankSumP=1.00000;SB=-190.80;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.4173A>G;refseq.codingCoordStr_2=c.4173A>G;refseq.codingCoordStr_3=c.4173A>G;refseq.codingCoordStr_4=c.4173A>G;refseq.codonCoord_1=1391;refseq.codonCoord_2=1391;refseq.codonCoord_3=1391;refseq.codonCoord_4=1391;refseq.end_1=58087480;refseq.end_2=58087480;refseq.end_3=58087480;refseq.end_4=58087480;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4338;refseq.mrnaCoord_2=4338;refseq.mrnaCoord_3=4338;refseq.mrnaCoord_4=4338;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A1391A;refseq.proteinCoordStr_2=p.A1391A;refseq.proteinCoordStr_3=p.A1391A;refseq.proteinCoordStr_4=p.A1391A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.spliceDist_4=-50;refseq.start_1=58087480;refseq.start_2=58087480;refseq.start_3=58087480;refseq.start_4=58087480;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/1 chr3 58087528 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=108.74;QD=9.89;RankSumP=0.273810;SB=-10.00;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.4221C>T;refseq.codingCoordStr_2=c.4221C>T;refseq.codingCoordStr_3=c.4221C>T;refseq.codingCoordStr_4=c.4221C>T;refseq.codonCoord_1=1407;refseq.codonCoord_2=1407;refseq.codonCoord_3=1407;refseq.codonCoord_4=1407;refseq.end_1=58087528;refseq.end_2=58087528;refseq.end_3=58087528;refseq.end_4=58087528;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4386;refseq.mrnaCoord_2=4386;refseq.mrnaCoord_3=4386;refseq.mrnaCoord_4=4386;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P1407P;refseq.proteinCoordStr_2=p.P1407P;refseq.proteinCoordStr_3=p.P1407P;refseq.proteinCoordStr_4=p.P1407P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.start_1=58087528;refseq.start_2=58087528;refseq.start_3=58087528;refseq.start_4=58087528;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 0/1 chr3 58093595 . G A 255.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=15.42;MQ=98.89;MQ0=0;OQ=5017.87;QD=18.86;RankSumP=0.451010;SB=-1388.24;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.4504G>A;refseq.codingCoordStr_2=c.4411G>A;refseq.codingCoordStr_3=c.4411G>A;refseq.codingCoordStr_4=c.4411G>A;refseq.codonCoord_1=1502;refseq.codonCoord_2=1471;refseq.codonCoord_3=1471;refseq.codonCoord_4=1471;refseq.end_1=58093595;refseq.end_2=58093595;refseq.end_3=58093595;refseq.end_4=58093595;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4669;refseq.mrnaCoord_2=4576;refseq.mrnaCoord_3=4576;refseq.mrnaCoord_4=4576;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V1502M;refseq.proteinCoordStr_2=p.V1471M;refseq.proteinCoordStr_3=p.V1471M;refseq.proteinCoordStr_4=p.V1471M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=58093595;refseq.start_2=58093595;refseq.start_3=58093595;refseq.start_4=58093595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/0 chr3 58120401 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=1.59104e-06;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.7062G>C;refseq.codingCoordStr_2=c.6936G>C;refseq.codingCoordStr_3=c.6897G>C;refseq.codingCoordStr_4=c.6969G>C;refseq.codonCoord_1=2354;refseq.codonCoord_2=2312;refseq.codonCoord_3=2299;refseq.codonCoord_4=2323;refseq.end_1=58120401;refseq.end_2=58120401;refseq.end_3=58120401;refseq.end_4=58120401;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=7227;refseq.mrnaCoord_2=7101;refseq.mrnaCoord_3=7062;refseq.mrnaCoord_4=7134;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V2354V;refseq.proteinCoordStr_2=p.V2312V;refseq.proteinCoordStr_3=p.V2299V;refseq.proteinCoordStr_4=p.V2323V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.spliceDist_4=-53;refseq.start_1=58120401;refseq.start_2=58120401;refseq.start_3=58120401;refseq.start_4=58120401;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=FilteredInAll GT 0/1 chr3 58120403 . A C 73 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.000312007;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.7064A>C;refseq.codingCoordStr_2=c.6938A>C;refseq.codingCoordStr_3=c.6899A>C;refseq.codingCoordStr_4=c.6971A>C;refseq.codonCoord_1=2355;refseq.codonCoord_2=2313;refseq.codonCoord_3=2300;refseq.codonCoord_4=2324;refseq.end_1=58120403;refseq.end_2=58120403;refseq.end_3=58120403;refseq.end_4=58120403;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=7229;refseq.mrnaCoord_2=7103;refseq.mrnaCoord_3=7064;refseq.mrnaCoord_4=7136;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H2355P;refseq.proteinCoordStr_2=p.H2313P;refseq.proteinCoordStr_3=p.H2300P;refseq.proteinCoordStr_4=p.H2324P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.start_1=58120403;refseq.start_2=58120403;refseq.start_3=58120403;refseq.start_4=58120403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr3 58129367 . C T 269.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=8.94;MQ=98.60;MQ0=0;OQ=7115.25;QD=15.95;RankSumP=0.447208;SB=-2672.34;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.7452C>T;refseq.codingCoordStr_2=c.7326C>T;refseq.codingCoordStr_3=c.7287C>T;refseq.codingCoordStr_4=c.7359C>T;refseq.codonCoord_1=2484;refseq.codonCoord_2=2442;refseq.codonCoord_3=2429;refseq.codonCoord_4=2453;refseq.end_1=58129367;refseq.end_2=58129367;refseq.end_3=58129367;refseq.end_4=58129367;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=7617;refseq.mrnaCoord_2=7491;refseq.mrnaCoord_3=7452;refseq.mrnaCoord_4=7524;refseq.name2_1=FLNB;refseq.name2_2=FLNB;refseq.name2_3=FLNB;refseq.name2_4=FLNB;refseq.name_1=NM_001164317;refseq.name_2=NM_001164318;refseq.name_3=NM_001164319;refseq.name_4=NM_001457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S2484S;refseq.proteinCoordStr_2=p.S2442S;refseq.proteinCoordStr_3=p.S2429S;refseq.proteinCoordStr_4=p.S2453S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.spliceDist_4=-59;refseq.start_1=58129367;refseq.start_2=58129367;refseq.start_3=58129367;refseq.start_4=58129367;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr3 58158676 . G A 208.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=98.08;MQ0=0;OQ=2659.84;QD=16.02;RankSumP=0.344113;SB=-1310.34;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.616C>T;refseq.codonCoord=206;refseq.end=58158676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1101;refseq.name=NM_004944;refseq.name2=DNASE1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R206C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=70;refseq.start=58158676;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr3 58166306 . C T 293.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.94;MQ0=0;OQ=7134.75;QD=22.09;RankSumP=0.407244;SB=-2129.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.252G>A;refseq.codonCoord=84;refseq.end=58166306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_004944;refseq.name2=DNASE1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T84T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=22;refseq.start=58166306;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 58166314 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=288;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.94;MQ0=0;OQ=6182.61;QD=21.47;RankSumP=0.374186;SB=-1664.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.244G>C;refseq.codonCoord=82;refseq.end=58166314;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_004944;refseq.name2=DNASE1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G82R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=14;refseq.start=58166314;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr3 58351915 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.468T>G;refseq.codonCoord=156;refseq.end=58351915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_017771;refseq.name2=PXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G156G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=58351915;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 58357886 . C T 131.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=99.00;MQ0=0;OQ=1751.73;QD=16.37;RankSumP=0.193438;SB=-392.58;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.903C>T;refseq.codonCoord=301;refseq.end=58357886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_017771;refseq.name2=PXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C301C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=81;refseq.start=58357886;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr3 58370903 . A G 153.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.93;MQ0=0;OQ=3149.58;QD=19.68;RankSumP=0.449883;SB=-1254.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1442A>G;refseq.codonCoord=481;refseq.end=58370903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1541;refseq.name=NM_017771;refseq.name2=PXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K481R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-24;refseq.start=58370903;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr3 58385594 . C T 222.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.77;MQ0=0;OQ=3021.84;QD=18.89;RankSumP=0.0311400;SB=-1513.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1604C>T;refseq.codonCoord=535;refseq.end=58385594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1703;refseq.name=NM_017771;refseq.name2=PXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A535V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=76;refseq.start=58385594;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr3 58391526 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.103017;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.487G>T;refseq.codingCoordStr_3=c.433G>T;refseq.codonCoord_2=163;refseq.codonCoord_3=145;refseq.end_1=58391526;refseq.end_2=58391526;refseq.end_3=58391526;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=600;refseq.mrnaCoord_2=530;refseq.mrnaCoord_3=476;refseq.name2_1=PDHB;refseq.name2_2=PDHB;refseq.name2_3=PDHB;refseq.name_1=NR_033384;refseq.name_2=NM_000925;refseq.name_3=NM_001173468;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A163S;refseq.proteinCoordStr_3=p.A145S;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.spliceDist_3=30;refseq.start_1=58391526;refseq.start_2=58391526;refseq.start_3=58391526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=FilteredInAll GT 1/0 chr3 58391575 . C T 187.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=98.86;MQ0=0;OQ=7859.66;QD=19.85;RankSumP=0.0570235;SB=-3052.07;SecondBestBaseQ=30;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.438G>A;refseq.codonCoord_3=146;refseq.end_1=58391599;refseq.end_2=58391575;refseq.end_3=58391575;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=551;refseq.mrnaCoord_3=481;refseq.name2_1=PDHB;refseq.name2_2=PDHB;refseq.name2_3=PDHB;refseq.name_1=NM_001173468;refseq.name_2=NR_033384;refseq.name_3=NM_000925;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G146G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGG;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.start_1=58391566;refseq.start_2=58391575;refseq.start_3=58391575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGA;set=Intersection GT 0/1 chr3 58391578 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=385;Dels=0.00;HRun=3;HaplotypeScore=4.68;MQ=98.86;MQ0=0;OQ=15173.43;QD=39.41;RankSumP=1.00000;SB=-7015.48;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.435A>G;refseq.codonCoord_3=145;refseq.end_1=58391599;refseq.end_2=58391578;refseq.end_3=58391578;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=548;refseq.mrnaCoord_3=478;refseq.name2_1=PDHB;refseq.name2_2=PDHB;refseq.name2_3=PDHB;refseq.name_1=NM_001173468;refseq.name_2=NR_033384;refseq.name_3=NM_000925;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R145R;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=AGA;refseq.spliceDist_2=132;refseq.spliceDist_3=132;refseq.start_1=58391566;refseq.start_2=58391578;refseq.start_3=58391578;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr3 58391703 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.310T>G;refseq.codingCoordStr_3=c.310T>G;refseq.codonCoord_2=104;refseq.codonCoord_3=104;refseq.end_1=58391703;refseq.end_2=58391703;refseq.end_3=58391703;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=353;refseq.mrnaCoord_3=353;refseq.name2_1=PDHB;refseq.name2_2=PDHB;refseq.name2_3=PDHB;refseq.name_1=NR_033384;refseq.name_2=NM_000925;refseq.name_3=NM_001173468;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L104V;refseq.proteinCoordStr_3=p.L104V;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=58391703;refseq.start_2=58391703;refseq.start_3=58391703;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr3 58600915 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.93;MQ0=0;OQ=2172.61;QD=10.86;RankSumP=0.378809;SB=-1044.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.352G>T;refseq.codonCoord=118;refseq.end=58600915;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_138805;refseq.name2=FAM3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.A118S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=58600915;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 59883166 . A G 359.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.86;MQ0=0;OQ=7053.16;QD=18.56;RankSumP=0.410985;SB=-1893.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.294T>C;refseq.codingCoordStr_2=c.294T>C;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.end_1=59883166;refseq.end_2=59883166;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=665;refseq.mrnaCoord_2=665;refseq.name2_1=FHIT;refseq.name2_2=FHIT;refseq.name_1=NM_001166243;refseq.name_2=NM_002012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H98H;refseq.proteinCoordStr_2=p.H98H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=59883166;refseq.start_2=59883166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr3 59972152 . G A 253.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.95;MQ0=0;OQ=5131.60;QD=23.76;RankSumP=0.120907;SB=-2035.86;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.264C>T;refseq.codingCoordStr_2=c.264C>T;refseq.codonCoord_1=88;refseq.codonCoord_2=88;refseq.end_1=59972152;refseq.end_2=59972152;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=635;refseq.mrnaCoord_2=635;refseq.name2_1=FHIT;refseq.name2_2=FHIT;refseq.name_1=NM_001166243;refseq.name_2=NM_002012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A88A;refseq.proteinCoordStr_2=p.A88A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=59972152;refseq.start_2=59972152;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr3 61950422 . T C 221.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.65;MQ0=0;OQ=3868.37;QD=20.58;RankSumP=0.368712;SB=-1508.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.274T>C;refseq.codonCoord=92;refseq.end=61950422;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_002841;refseq.name2=PTPRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y92H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=84;refseq.start=61950422;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr3 62164143 . G A 14.42 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=1;HaplotypeScore=4.65;MQ=96.73;MQ0=0;QD=0.63;SB=-31.50;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1634G>A;refseq.codonCoord=545;refseq.end=62164143;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2353;refseq.name=NM_002841;refseq.name2=PTPRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S545N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=257;refseq.start=62164143;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:20,2:13:-8.62,-3.91,-43.32:47.10 chr3 62164477 . G C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.44;MQ0=0;OQ=317.04;QD=12.68;RankSumP=0.608733;SB=-80.78;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1968G>C;refseq.codonCoord=656;refseq.end=62164477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2687;refseq.name=NM_002841;refseq.name2=PTPRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T656T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-188;refseq.start=62164477;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr3 62204593 . C T 312.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=98.88;MQ0=0;OQ=6780.66;QD=43.47;RankSumP=1.00000;SB=-2885.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2448C>T;refseq.codonCoord=816;refseq.end=62204593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3167;refseq.name=NM_002841;refseq.name2=PTPRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.I816I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-20;refseq.start=62204593;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 63942940 . A G 319.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=7.12;MQ=98.73;MQ0=0;OQ=7294.49;QD=21.14;RankSumP=0.289467;SB=-3038.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.791A>G;refseq.codingCoordStr_2=c.356A>G;refseq.codingCoordStr_3=c.791A>G;refseq.codonCoord_1=264;refseq.codonCoord_2=119;refseq.codonCoord_3=264;refseq.end_1=63942940;refseq.end_2=63942940;refseq.end_3=63942940;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1344;refseq.mrnaCoord_2=524;refseq.mrnaCoord_3=901;refseq.name2_1=ATXN7;refseq.name2_2=ATXN7;refseq.name2_3=ATXN7;refseq.name_1=NM_000333;refseq.name_2=NM_001128149;refseq.name_3=NM_001177387;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K264R;refseq.proteinCoordStr_2=p.K119R;refseq.proteinCoordStr_3=p.K264R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=63942940;refseq.start_2=63942940;refseq.start_3=63942940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr3 63956675 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=20.00;MQ=98.33;MQ0=0;OQ=2253.83;QD=14.36;RankSumP=0.309342;SB=-641.11;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2137C>T;refseq.codingCoordStr_2=c.1702C>T;refseq.codingCoordStr_3=c.2137C>T;refseq.codonCoord_1=713;refseq.codonCoord_2=568;refseq.codonCoord_3=713;refseq.end_1=63956675;refseq.end_2=63956675;refseq.end_3=63956675;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2690;refseq.mrnaCoord_2=1870;refseq.mrnaCoord_3=2247;refseq.name2_1=ATXN7;refseq.name2_2=ATXN7;refseq.name2_3=ATXN7;refseq.name_1=NM_000333;refseq.name_2=NM_001128149;refseq.name_3=NM_001177387;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L713L;refseq.proteinCoordStr_2=p.L568L;refseq.proteinCoordStr_3=p.L713L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=455;refseq.spliceDist_2=455;refseq.spliceDist_3=455;refseq.start_1=63956675;refseq.start_2=63956675;refseq.start_3=63956675;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 0/1 chr3 63957122 . G A 456.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.53;MQ0=0;OQ=4628.53;QD=41.33;RankSumP=1.00000;SB=-2086.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2584G>A;refseq.codingCoordStr_2=c.2149G>A;refseq.codingCoordStr_3=c.2584G>A;refseq.codonCoord_1=862;refseq.codonCoord_2=717;refseq.codonCoord_3=862;refseq.end_1=63957122;refseq.end_2=63957122;refseq.end_3=63957122;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3137;refseq.mrnaCoord_2=2317;refseq.mrnaCoord_3=2694;refseq.name2_1=ATXN7;refseq.name2_2=ATXN7;refseq.name2_3=ATXN7;refseq.name_1=NM_000333;refseq.name_2=NM_001128149;refseq.name_3=NM_001177387;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V862M;refseq.proteinCoordStr_2=p.V717M;refseq.proteinCoordStr_3=p.V862M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.spliceDist_3=-78;refseq.start_1=63957122;refseq.start_2=63957122;refseq.start_3=63957122;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr3 64108390 . A G 393.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.61;MQ0=0;OQ=2898.98;QD=36.70;RankSumP=1.00000;SB=-882.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.816T>C;refseq.codonCoord=272;refseq.end=64108390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_198859;refseq.name2=PRICKLE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D272D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=29;refseq.start=64108390;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr3 64117899 . C T 154.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.83;MQ0=0;OQ=780.09;QD=14.18;RankSumP=0.535597;SB=-381.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.579G>A;refseq.codonCoord=193;refseq.end=64117899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1165;refseq.name=NM_198859;refseq.name2=PRICKLE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P193P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-22;refseq.start=64117899;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr3 64502575 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.5176A>C;refseq.codonCoord=1726;refseq.end=64502575;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5208;refseq.name=NM_182920;refseq.name2=ADAMTS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1726P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-22;refseq.start=64502575;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 64562858 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=1;HaplotypeScore=21.12;MQ=98.88;MQ0=0;OQ=9121.00;QD=20.54;RankSumP=0.417246;SB=-3817.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3819C>T;refseq.codonCoord=1273;refseq.end=64562858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3851;refseq.name=NM_182920;refseq.name2=ADAMTS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1273I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=72;refseq.start=64562858;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr3 64592546 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2271A>G;refseq.codonCoord=757;refseq.end=64592546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2303;refseq.name=NM_182920;refseq.name2=ADAMTS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G757G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-23;refseq.start=64592546;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 65400631 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=3.79147e-05;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1233A>G;refseq.codingCoordStr_2=c.1233A>G;refseq.codingCoordStr_3=c.1233A>G;refseq.codonCoord_1=411;refseq.codonCoord_2=411;refseq.codonCoord_3=411;refseq.end_1=65400631;refseq.end_2=65400631;refseq.end_3=65400631;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1759;refseq.mrnaCoord_2=1759;refseq.mrnaCoord_3=1759;refseq.name2_1=MAGI1;refseq.name2_2=MAGI1;refseq.name2_3=MAGI1;refseq.name_1=NM_001033057;refseq.name_2=NM_004742;refseq.name_3=NM_015520;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q411Q;refseq.proteinCoordStr_2=p.Q411Q;refseq.proteinCoordStr_3=p.Q411Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=65400631;refseq.start_2=65400631;refseq.start_3=65400631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=FilteredInAll GT 1/0 chr3 66513501 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=3;HaplotypeScore=9.76;MQ=98.44;MQ0=0;OQ=2306.72;QD=17.21;RankSumP=0.383355;SB=-724.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3158A>C;refseq.codonCoord=1053;refseq.end=66513501;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3172;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1053P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=103;refseq.start=66513501;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 66513903 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2843A>C;refseq.codonCoord=948;refseq.end=66513903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2857;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H948P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=73;refseq.start=66513903;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 66516366 . A G 161.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=3.80;MQ=97.63;MQ0=0;OQ=1819.44;QD=15.16;RankSumP=0.437769;SB=-606.11;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2221T>C;refseq.codonCoord=741;refseq.end=66516366;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2235;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L741L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=150;refseq.start=66516366;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr3 66527305 . G A 207.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.63;MQ0=0;OQ=1815.17;QD=13.75;RankSumP=0.100170;SB=-872.56;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1317C>T;refseq.codonCoord=439;refseq.end=66527305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S439S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=13;refseq.start=66527305;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr3 66633446 . G C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=16;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=84.32;MQ0=0;OQ=66.31;QD=7.37;RankSumP=1.00000;SB=-57.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.76C>G;refseq.codonCoord=26;refseq.end=66633446;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=90;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L26V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=90;refseq.start=66633446;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 1/1 chr3 66633452 . G C 83.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=87.24;MQ0=0;OQ=210.12;QD=17.51;RankSumP=1.00000;SB=-96.94;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.70C>G;refseq.codonCoord=24;refseq.end=66633452;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_015541;refseq.name2=LRIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L24V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=84;refseq.start=66633452;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 1/1 chr3 69137031 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=448;Dels=0.00;HRun=1;HaplotypeScore=19.97;MQ=98.01;MQ0=0;OQ=8311.34;QD=18.55;RankSumP=0.333584;SB=-2790.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.465A>G;refseq.codonCoord=155;refseq.end=69137031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_173654;refseq.name2=C3orf64;refseq.positionType=CDS;refseq.proteinCoordStr=p.R155R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=45;refseq.start=69137031;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr3 69165398 . C G 186.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.86;MQ0=0;OQ=5095.76;QD=24.38;RankSumP=0.454982;SB=-1724.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2392G>C;refseq.codonCoord=798;refseq.end=69165398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2639;refseq.name=NM_007114;refseq.name2=TMF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D798H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=69165398;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr3 69179304 . G A 117.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=597;Dels=0.00;HRun=0;HaplotypeScore=19.13;MQ=98.78;MQ0=0;OQ=11520.86;QD=19.30;RankSumP=0.396535;SB=-4450.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1242C>T;refseq.codonCoord=414;refseq.end=69179304;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_007114;refseq.name2=TMF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S414S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-106;refseq.start=69179304;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 70011155 . A C 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.27706e-06;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.282A>C;refseq.codingCoordStr_2=c.285A>C;refseq.codingCoordStr_3=c.237A>C;refseq.codingCoordStr_4=c.210A>C;refseq.codonCoord_1=94;refseq.codonCoord_2=95;refseq.codonCoord_3=79;refseq.codonCoord_4=70;refseq.end_1=70011155;refseq.end_2=70011155;refseq.end_3=70011155;refseq.end_4=70011155;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=313;refseq.mrnaCoord_2=401;refseq.mrnaCoord_3=237;refseq.mrnaCoord_4=210;refseq.name2_1=MITF;refseq.name2_2=MITF;refseq.name2_3=MITF;refseq.name2_4=MITF;refseq.name_1=NM_006722;refseq.name_2=NM_198159;refseq.name_3=NM_198177;refseq.name_4=NM_198178;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T94T;refseq.proteinCoordStr_2=p.T95T;refseq.proteinCoordStr_3=p.T79T;refseq.proteinCoordStr_4=p.T70T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.spliceDist_3=-70;refseq.spliceDist_4=-70;refseq.start_1=70011155;refseq.start_2=70011155;refseq.start_3=70011155;refseq.start_4=70011155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 0/1 chr3 73516059 . G A 291.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=98.83;MQ0=0;OQ=1675.25;QD=18.41;RankSumP=0.265579;SB=-735.03;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2348C>T;refseq.codonCoord=783;refseq.end=73516059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2444;refseq.name=NM_015009;refseq.name2=PDZRN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A783V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=713;refseq.start=73516059;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 73516184 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.01;MQ0=0;OQ=583.20;QD=12.15;RankSumP=0.542914;SB=-273.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2223A>G;refseq.codonCoord=741;refseq.end=73516184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2319;refseq.name=NM_015009;refseq.name2=PDZRN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S741S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=588;refseq.start=73516184;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr3 73536015 . C T 304.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=8.12;MQ=98.82;MQ0=0;OQ=13293.78;QD=40.28;RankSumP=1.00000;SB=-5768.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1140G>A;refseq.codonCoord=380;refseq.end=73536015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1236;refseq.name=NM_015009;refseq.name2=PDZRN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V380V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-27;refseq.start=73536015;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr3 74431752 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=25.49;MQ=98.51;MQ0=0;OQ=4840.29;QD=13.26;RankSumP=0.476633;SB=-441.22;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2123A>G;refseq.codonCoord=708;refseq.end=74431752;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2203;refseq.name=NM_020872;refseq.name2=CNTN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N708S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=28;refseq.start=74431752;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr3 74496366 . T C 311.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=6121.30;QD=22.18;RankSumP=0.350259;SB=-2024.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1155A>G;refseq.codonCoord=385;refseq.end=74496366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1235;refseq.name=NM_020872;refseq.name2=CNTN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q385Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-59;refseq.start=74496366;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr3 75762627 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=465;Dels=0.00;HRun=0;HaplotypeScore=52.54;MQ=28.72;MQ0=232;OQ=904.32;QD=1.94;SB=-104.68;refseq.chr=chr3;refseq.end=75762627;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=24;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=24;refseq.start=75762627;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:419,46:201:-154.24,-60.52,-688.26:99 chr3 75762634 rs7614638 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=47.06;MQ=30.16;MQ0=223;OQ=1294.97;QD=2.57;SB=-518.62;refseq.chr=chr3;refseq.end=75762634;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=31;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=31;refseq.start=75762634;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:414,90:246:-206.85,-74.07,-827.79:99 chr3 75762648 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=539;Dels=0.00;HRun=0;HaplotypeScore=58.65;MQ=32.03;MQ0=195;OQ=1231.22;QD=2.28;SB=-468.50;refseq.chr=chr3;refseq.end=75762648;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=45;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=45;refseq.start=75762648;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:478,59:308:-219.14,-92.73,-1099.65:99 chr3 75762653 . C T 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=538;Dels=0.00;HRun=2;HaplotypeScore=65.78;MQ=32.49;MQ0=173;OQ=471.81;QD=0.88;RankSumP=0.464261;SB=-247.35;SecondBestBaseQ=34;refseq.chr=chr3;refseq.end=75762653;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=50;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=-46;refseq.start=75762653;refseq.transcriptStrand=+;set=soap-filterIngatk GT 0/1 chr3 75762663 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=520;Dels=0.00;HRun=0;HaplotypeScore=74.54;MQ=34.38;MQ0=115;OQ=1398.33;QD=2.69;SB=-716.82;refseq.chr=chr3;refseq.end=75762663;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=60;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=-36;refseq.start=75762663;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:458,61:368:-253.94,-110.82,-1287.80:99 chr3 75762683 . C T 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=448;Dels=0.00;HRun=3;HaplotypeScore=4.29;MQ=36.05;MQ0=52;OQ=632.11;QD=1.41;RankSumP=0.753244;SB=-240.01;SecondBestBaseQ=33;refseq.chr=chr3;refseq.end=75762683;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=80;refseq.name=NR_031714;refseq.name2=MIR1324;refseq.positionType=non_coding_exon;refseq.spliceDist=-16;refseq.start=75762683;refseq.transcriptStrand=+;set=soap-filterIngatk GT 0/1 chr3 75796245 . G A 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.587838;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.25G>A;refseq.codonCoord=9;refseq.end=75796245;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=69;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D9N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=69;refseq.start=75796245;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr3 75796251 . C T 97.14 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=202;Dels=0.00;HRun=0;HaplotypeScore=129.10;MQ=38.37;MQ0=75;QD=0.48;SB=107.39;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.31C>T;refseq.codonCoord=11;refseq.end=75796251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.H11Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=75;refseq.start=75796251;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:185,17:115:-47.62,-34.63,-434.70:99 chr3 75796253 . C G 224.06 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=136.40;MQ=38.05;MQ0=81;QD=1.07;SB=110.41;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.33C>G;refseq.codonCoord=11;refseq.end=75796253;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.H11Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=77;refseq.start=75796253;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:191,19:115:-60.32,-34.63,-500.05:99 chr3 75796254 . T C 1826.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=137.40;MQ=38.24;MQ0=86;QD=8.53;RankSumP=0.316920;SB=-677.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.34T>C;refseq.codonCoord=12;refseq.end=75796254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C12R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=78;refseq.start=75796254;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap-filterIngatk GT 1/0 chr3 75796256 . T C 711.77 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=227;Dels=0.00;HRun=0;HaplotypeScore=85.42;MQ=40.28;MQ0=91;QD=3.14;RankSumP=0.00365800;SB=98.36;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.36T>C;refseq.codonCoord=12;refseq.end=75796256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=80;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C12C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=80;refseq.start=75796256;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/0 chr3 75796308 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=677;Dels=0.00;HRun=3;HaplotypeScore=15.67;MQ=48.62;MQ0=134;OQ=3035.83;QD=4.48;RankSumP=0.370953;SB=-924.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.88A>T;refseq.codonCoord=30;refseq.end=75796308;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T30S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-91;refseq.start=75796308;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr3 75796344 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1142;Dels=0.00;HRun=3;HaplotypeScore=11.61;MQ=55.58;MQ0=30;OQ=10070.74;QD=8.82;RankSumP=0.384895;SB=-2859.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.124G>A;refseq.codonCoord=42;refseq.end=75796344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-55;refseq.start=75796344;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr3 75796359 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1229;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=57.60;MQ0=11;OQ=10148.63;QD=8.26;RankSumP=0.282745;SB=-2738.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.139G>A;refseq.codonCoord=47;refseq.end=75796359;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A47T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-40;refseq.start=75796359;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/0 chr3 75796667 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=609;Dels=0.00;HRun=1;HaplotypeScore=43.27;MQ=73.44;MQ0=69;OQ=321.06;QD=0.53;SB=508.59;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.186A>G;refseq.codonCoord=62;refseq.end=75796667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S62S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=75796667;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:540,68:514:-192.96,-157.57,-2045.64:99 chr3 75796670 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=631;Dels=0.00;HRun=0;HaplotypeScore=43.23;MQ=72.59;MQ0=82;OQ=1185.52;QD=1.88;SB=450.60;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.189T>G;refseq.codonCoord=63;refseq.end=75796670;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D63E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=11;refseq.start=75796670;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:544,85:532:-282.03,-160.19,-1843.34:99 chr3 75796724 . C G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=955;Dels=0.00;HRun=1;HaplotypeScore=67.81;MQ=45.68;MQ0=470;OQ=1721.56;QD=1.80;RankSumP=0.213628;SB=-686.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.243C>G;refseq.codonCoord=81;refseq.end=75796724;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S81R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-14;refseq.start=75796724;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 1/0 chr3 75796731 . G A 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.410886;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.250G>A;refseq.codonCoord=84;refseq.end=75796731;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G84R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=75796731;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr3 75796988 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=709;Dels=0.00;HRun=2;HaplotypeScore=18.61;MQ=72.30;MQ0=84;OQ=11698.25;QD=16.50;RankSumP=0.474211;SB=-2133.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.278A>G;refseq.codonCoord=93;refseq.end=75796988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q93R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=22;refseq.start=75796988;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr3 75797001 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=772;Dels=0.00;HRun=4;HaplotypeScore=24.46;MQ=74.54;MQ0=66;OQ=5470.07;QD=7.09;SB=-1407.46;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.291G>A;refseq.codonCoord=97;refseq.end=75797001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R97R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=35;refseq.start=75797001;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:591,181:595:-546.01,-179.20,-1872.84:99 chr3 75797013 . C G 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.425959;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.303C>G;refseq.codonCoord=101;refseq.end=75797013;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I101M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-32;refseq.start=75797013;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr3 75797027 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=744;Dels=0.00;HRun=0;HaplotypeScore=173.99;MQ=78.48;MQ0=34;OQ=14947.96;QD=20.09;RankSumP=1.86392e-06;SB=-5900.83;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.317T>G;refseq.codonCoord=106;refseq.end=75797027;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I106S;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-18;refseq.start=75797027;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr3 75797035 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=686;Dels=0.00;HRun=0;HaplotypeScore=167.70;MQ=78.74;MQ0=17;OQ=5757.00;QD=8.39;RankSumP=0.294305;SB=-1554.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.325G>T;refseq.codonCoord=109;refseq.end=75797035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D109Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=75797035;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr3 75797392 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=670;Dels=0.00;HRun=0;HaplotypeScore=120.30;MQ=84.96;MQ0=27;OQ=17448.80;QD=26.04;RankSumP=0.282044;SB=-7659.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.359A>G;refseq.codonCoord=120;refseq.end=75797392;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N120S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=25;refseq.start=75797392;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chr3 75797399 rs34204891 G T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=641;Dels=0.00;HRun=2;HaplotypeScore=116.83;MQ=84.21;MQ0=30;OQ=1911.29;QD=2.98;SB=-760.82;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.366G>T;refseq.codonCoord=122;refseq.end=75797399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T122T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=32;refseq.start=75797399;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:535,106:585:-370.57,-176.15,-1925.84:99 chr3 75797461 . A G 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=364;Dels=0.00;HRun=1;HaplotypeScore=10.48;MQ=58.35;MQ0=49;OQ=467.51;QD=1.28;RankSumP=0.198295;SB=-136.24;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.428A>G;refseq.codonCoord=143;refseq.end=75797461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D143G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=94;refseq.start=75797461;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr3 75797478 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=351;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=53.16;MQ0=21;OQ=1020.43;QD=2.91;RankSumP=0.0143341;SB=-205.64;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.445A>C;refseq.codonCoord=149;refseq.end=75797478;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S149R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=111;refseq.start=75797478;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr3 75797497 rs62247158 G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=404.28;MQ=50.77;MQ0=8;OQ=939.35;QD=2.87;SB=-374.74;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.464G>A;refseq.codonCoord=155;refseq.end=75797497;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G155E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=130;refseq.start=75797497;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:281,46:294:-185.74,-88.52,-1063.27:99 chr3 75797499 . C T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=335;Dels=0.00;HRun=0;HaplotypeScore=357.44;MQ=50.37;MQ0=5;OQ=1371.18;QD=4.09;SB=-677.23;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.466C>T;refseq.codonCoord=156;refseq.end=75797499;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R156C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=132;refseq.start=75797499;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:268,62:306:-244.69,-104.29,-974.71:99 chr3 75797509 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=346;Dels=0.00;HRun=0;HaplotypeScore=300.99;MQ=49.64;MQ0=2;OQ=1918.35;QD=5.54;SB=-629.40;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.476G>A;refseq.codonCoord=159;refseq.end=75797509;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R159Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=142;refseq.start=75797509;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:271,75:319:-291.19,-96.07,-973.32:99 chr3 75797515 . G A 1497.06 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=351;Dels=0.13;HRun=1;HaplotypeScore=413.25;MQ=49.13;MQ0=1;QD=4.27;SB=-610.54;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.482G>A;refseq.codonCoord=161;refseq.end=75797515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R161K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=148;refseq.start=75797515;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:248,59:266:-231.58,-78.59,-867.39:99 chr3 75797521 . G A 2450.68 SnpCluster AC=1;AF=0.50;AN=2;DP=352;Dels=0.00;HRun=0;HaplotypeScore=370.62;MQ=49.21;MQ0=1;QD=6.96;SB=-545.84;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.488G>A;refseq.codonCoord=163;refseq.end=75797521;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R163Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=154;refseq.start=75797521;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:268,84:331:-348.05,-99.70,-956.46:99 chr3 75797525 . C T 2618.80 SnpCluster AC=1;AF=0.50;AN=2;DP=358;Dels=0.00;HRun=0;HaplotypeScore=251.35;MQ=50.71;MQ0=0;QD=7.32;SB=-623.14;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=75797525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A164A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=158;refseq.start=75797525;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:273,85:308:-357.91,-92.74,-930.24:99 chr3 75797530 . A G 6595.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=384;Dels=0.00;HRun=1;HaplotypeScore=130.85;MQ=51.38;MQ0=2;QD=17.18;RankSumP=0.144952;SB=-1477.64;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.497A>G;refseq.codonCoord=166;refseq.end=75797530;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E166G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=163;refseq.start=75797530;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 0/1 chr3 75797533 . T A 1734.65 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=403;Dels=0.00;HRun=0;HaplotypeScore=200.81;MQ=52.18;MQ0=4;QD=4.30;SB=-402.45;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.500T>A;refseq.codonCoord=167;refseq.end=75797533;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V167D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=166;refseq.start=75797533;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:327,75:382:-291.80,-115.05,-1186.50:99 chr3 75797543 . G A 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=460;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=51.17;MQ0=29;OQ=2468.41;QD=5.37;RankSumP=0.158790;SB=-719.54;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.510G>A;refseq.codonCoord=170;refseq.end=75797543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P170P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=176;refseq.start=75797543;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap-filterIngatk GT 1/0 chr3 75797585 . G A 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.172506;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.552G>A;refseq.codonCoord=184;refseq.end=75797585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S184S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=218;refseq.start=75797585;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr3 75797588 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=804;Dels=0.00;HRun=1;HaplotypeScore=123.75;MQ=48.83;MQ0=91;OQ=10941.30;QD=13.61;RankSumP=0.105604;SB=-2809.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.555G>A;refseq.codonCoord=185;refseq.end=75797588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E185E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=221;refseq.start=75797588;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr3 75797607 . G A 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=937;Dels=0.00;HRun=1;HaplotypeScore=32.73;MQ=45.04;MQ0=92;OQ=6432.46;QD=6.86;RankSumP=0.319895;SB=-1862.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.574G>A;refseq.codonCoord=192;refseq.end=75797607;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A192T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=240;refseq.start=75797607;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/0 chr3 75797619 . G A 18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=909;Dels=0.00;HRun=0;HaplotypeScore=24.03;MQ=44.92;MQ0=73;OQ=6288.71;QD=6.92;RankSumP=0.00121015;SB=-1889.45;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.586G>A;refseq.codonCoord=196;refseq.end=75797619;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A196T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=252;refseq.start=75797619;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr3 75797640 . C A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=861;Dels=0.00;HRun=1;HaplotypeScore=34.59;MQ=44.70;MQ0=79;OQ=5352.26;QD=6.22;RankSumP=0.0956007;SB=-1376.85;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.607C>A;refseq.codonCoord=203;refseq.end=75797640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L203M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=273;refseq.start=75797640;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/0 chr3 75797661 . C A 1067.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=711;Dels=0.00;HRun=1;HaplotypeScore=266.45;MQ=41.41;MQ0=96;QD=1.50;RankSumP=0.157724;SB=-502.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.628C>A;refseq.codonCoord=210;refseq.end=75797661;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L210M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=294;refseq.start=75797661;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/0 chr3 75797666 . C T 10623.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=643;Dels=0.00;HRun=1;HaplotypeScore=249.08;MQ=40.41;MQ0=89;QD=16.52;RankSumP=0.409828;SB=-2907.79;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.633C>T;refseq.codonCoord=211;refseq.end=75797666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=299;refseq.start=75797666;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 0/1 chr3 75797670 . C A 1544.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=609;Dels=0.00;HRun=0;HaplotypeScore=244.63;MQ=39.45;MQ0=87;QD=2.54;RankSumP=0.206576;SB=-329.69;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.637C>A;refseq.codonCoord=213;refseq.end=75797670;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R213R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=303;refseq.start=75797670;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 1/0 chr3 75797706 . T C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=2;HaplotypeScore=12.25;MQ=36.99;MQ0=101;OQ=1187.39;QD=2.91;RankSumP=0.153543;SB=-490.91;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.673T>C;refseq.codonCoord=225;refseq.end=75797706;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L225L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=339;refseq.start=75797706;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr3 75797723 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=381;Dels=0.00;HRun=1;HaplotypeScore=8.30;MQ=38.66;MQ0=92;OQ=422.92;QD=1.11;RankSumP=0.293565;SB=-169.45;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.690T>C;refseq.codonCoord=230;refseq.end=75797723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T230T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=356;refseq.start=75797723;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr3 75797777 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=20.04;MQ=55.92;MQ0=60;OQ=576.63;QD=1.33;RankSumP=0.434893;SB=239.26;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.744T>A;refseq.codonCoord=248;refseq.end=75797777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P248P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=410;refseq.start=75797777;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr3 75797789 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=456;Dels=0.00;HRun=1;HaplotypeScore=19.35;MQ=56.85;MQ0=50;OQ=1458.96;QD=3.20;RankSumP=0.268392;SB=321.08;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.756T>A;refseq.codonCoord=252;refseq.end=75797789;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D252E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=422;refseq.start=75797789;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr3 75797808 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=592;Dels=0.00;HRun=2;HaplotypeScore=13.08;MQ=57.79;MQ0=37;OQ=2920.26;QD=4.93;RankSumP=0.187415;SB=-989.51;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.775G>A;refseq.codonCoord=259;refseq.end=75797808;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=819;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A259T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=441;refseq.start=75797808;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr3 75797814 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=659;Dels=0.00;HRun=1;HaplotypeScore=14.98;MQ=57.89;MQ0=35;OQ=2753.38;QD=4.18;RankSumP=0.254932;SB=-1162.89;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.781C>T;refseq.codonCoord=261;refseq.end=75797814;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P261S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=447;refseq.start=75797814;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 75797841 . C A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.301352;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.808C>A;refseq.codonCoord=270;refseq.end=75797841;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P270T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=474;refseq.start=75797841;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr3 75797863 . C T 1128.40 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=941;Dels=0.00;HRun=1;HaplotypeScore=12.68;MQ=63.32;MQ0=8;QD=1.20;SB=-189.68;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.830C>T;refseq.codonCoord=277;refseq.end=75797863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=874;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=496;refseq.start=75797863;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:841,99:898:-386.50,-270.38,-3413.52:99 chr3 75797864 . T G 937.47 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=939;Dels=0.00;HRun=0;HaplotypeScore=13.68;MQ=63.63;MQ0=7;QD=1.00;SB=-130.84;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.831T>G;refseq.codonCoord=277;refseq.end=75797864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_001124759;refseq.name2=FRG2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=497;refseq.start=75797864;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:841,97:895:-366.53,-269.50,-3185.79:99 chr3 75797871 . G A,T 1311.96 BadSOAPSNP;ESPStandard;SnpCluster AC=0,1;AF=0.00,0.50;AN=2;BestBaseQ=32;DB;DP=926;Dels=0.00;HRun=0;HaplotypeScore=56.70;MQ=64.58;MQ0=6;QD=1.42;RankSumP=0.0200223;SB=-184.79;SecondBestBaseQ=34;set=FilteredInAll GT 0/2 chr3 86197508 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1127T>G;refseq.codingCoordStr_2=c.1034T>G;refseq.codingCoordStr_3=c.1133T>G;refseq.codonCoord_1=376;refseq.codonCoord_2=345;refseq.codonCoord_3=378;refseq.end_1=86197508;refseq.end_2=86197508;refseq.end_3=86197508;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1753;refseq.mrnaCoord_2=1660;refseq.mrnaCoord_3=1133;refseq.name2_1=CADM2;refseq.name2_2=CADM2;refseq.name2_3=CADM2;refseq.name_1=NM_001167674;refseq.name_2=NM_001167675;refseq.name_3=NM_153184;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V376G;refseq.proteinCoordStr_2=p.V345G;refseq.proteinCoordStr_3=p.V378G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.start_1=86197508;refseq.start_2=86197508;refseq.start_3=86197508;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 1/0 chr3 87377739 . T C 217.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.60;MQ0=0;OQ=8280.47;QD=42.68;RankSumP=1.00000;SB=-2283.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.312T>C;refseq.codonCoord=104;refseq.end=87377739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_014043;refseq.name2=CHMP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=87377739;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 88281988 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=24.60;MQ=97.30;MQ0=0;OQ=2903.19;QD=11.57;RankSumP=0.0557476;SB=-1025.61;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=88281988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_173824;refseq.name2=C3orf38;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-38;refseq.start=88281988;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr3 89604383 . T C 192.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=499;Dels=0.00;HRun=1;HaplotypeScore=9.10;MQ=97.08;MQ0=0;OQ=7944.50;QD=15.92;RankSumP=0.463481;SB=-1678.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2770T>C;refseq.codonCoord=924;refseq.end=89604383;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2995;refseq.name=NM_005233;refseq.name2=EPHA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W924R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-77;refseq.start=89604383;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr3 89604415 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=97.23;MQ0=0;OQ=3095.54;QD=11.64;RankSumP=0.475132;SB=-570.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2802T>C;refseq.codonCoord=934;refseq.end=89604415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3027;refseq.name=NM_005233;refseq.name2=EPHA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G934G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-45;refseq.start=89604415;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr3 95241494 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_2=c.770T>C;refseq.codingCoordStr_3=c.461T>C;refseq.codingCoordStr_4=c.449T>C;refseq.codingCoordStr_5=c.770T>C;refseq.codonCoord_2=257;refseq.codonCoord_3=154;refseq.codonCoord_4=150;refseq.codonCoord_5=257;refseq.end_1=95241494;refseq.end_2=95241494;refseq.end_3=95241494;refseq.end_4=95241494;refseq.end_5=95241494;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=1055;refseq.mrnaCoord_3=984;refseq.mrnaCoord_4=734;refseq.mrnaCoord_5=1055;refseq.name2_1=ARL13B;refseq.name2_2=ARL13B;refseq.name2_3=ARL13B;refseq.name2_4=ARL13B;refseq.name2_5=ARL13B;refseq.name_1=NR_033427;refseq.name_2=NM_001174150;refseq.name_3=NM_001174151;refseq.name_4=NM_144996;refseq.name_5=NM_182896;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.F257S;refseq.proteinCoordStr_3=p.F154S;refseq.proteinCoordStr_4=p.F150S;refseq.proteinCoordStr_5=p.F257S;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.referenceCodon_5=TTC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.spliceDist_5=-29;refseq.start_1=95241494;refseq.start_2=95241494;refseq.start_3=95241494;refseq.start_4=95241494;refseq.start_5=95241494;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;set=FilteredInAll GT 1/0 chr3 95250958 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=2278.49;QD=23.02;RankSumP=0.297024;SB=-424.50;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_2=c.1043C>G;refseq.codingCoordStr_3=c.734C>G;refseq.codingCoordStr_4=c.722C>G;refseq.codingCoordStr_5=c.1043C>G;refseq.codonCoord_2=348;refseq.codonCoord_3=245;refseq.codonCoord_4=241;refseq.codonCoord_5=348;refseq.end_1=95250958;refseq.end_2=95250958;refseq.end_3=95250958;refseq.end_4=95250958;refseq.end_5=95250958;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1083;refseq.mrnaCoord_2=1328;refseq.mrnaCoord_3=1257;refseq.mrnaCoord_4=1007;refseq.mrnaCoord_5=1328;refseq.name2_1=ARL13B;refseq.name2_2=ARL13B;refseq.name2_3=ARL13B;refseq.name2_4=ARL13B;refseq.name2_5=ARL13B;refseq.name_1=NR_033427;refseq.name_2=NM_001174150;refseq.name_3=NM_001174151;refseq.name_4=NM_144996;refseq.name_5=NM_182896;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.T348S;refseq.proteinCoordStr_3=p.T245S;refseq.proteinCoordStr_4=p.T241S;refseq.proteinCoordStr_5=p.T348S;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.spliceDist_3=19;refseq.spliceDist_4=19;refseq.spliceDist_5=19;refseq.start_1=95250958;refseq.start_2=95250958;refseq.start_3=95250958;refseq.start_4=95250958;refseq.start_5=95250958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 1/0 chr3 95262550 . C T 256.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=8.22;MQ=97.39;MQ0=0;OQ=6053.78;QD=17.96;RankSumP=0.251150;SB=-2248.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.496G>A;refseq.codonCoord=166;refseq.end=95262550;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=662;refseq.name=NM_176815;refseq.name2=DHFRL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V166I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=591;refseq.start=95262550;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr3 95262799 . G C 214.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=11.68;MQ=83.22;MQ0=3;OQ=7150.97;QD=21.60;RankSumP=0.250715;SB=-2907.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.247C>G;refseq.codonCoord=83;refseq.end=95262799;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_176815;refseq.name2=DHFRL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P83A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=342;refseq.start=95262799;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr3 99089980 . G A 125.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.99;MQ0=0;OQ=1417.31;QD=12.77;RankSumP=0.342485;SB=-444.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1551G>A;refseq.codonCoord=517;refseq.end=99089980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_153605;refseq.name2=CRYBG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P517P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=99089980;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr3 99142774 . C T 364.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=8.97;MQ=98.91;MQ0=0;OQ=6305.17;QD=20.08;RankSumP=0.300905;SB=-2215.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2754C>T;refseq.codonCoord=918;refseq.end=99142774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2818;refseq.name=NM_153605;refseq.name2=CRYBG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C918C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-67;refseq.start=99142774;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr3 99142796 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=25.70;MQ=98.87;MQ0=0;OQ=8282.05;QD=21.35;RankSumP=0.358648;SB=-2562.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2776A>C;refseq.codonCoord=926;refseq.end=99142796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2840;refseq.name=NM_153605;refseq.name2=CRYBG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N926H;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-45;refseq.start=99142796;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr3 99147415 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=2;HaplotypeScore=4.82;MQ=98.85;MQ0=0;OQ=2409.70;QD=15.16;RankSumP=0.307363;SB=-617.52;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1156G>A;refseq.codingCoordStr_2=c.1153G>A;refseq.codingCoordStr_3=c.1156G>A;refseq.codonCoord_1=386;refseq.codonCoord_2=385;refseq.codonCoord_3=386;refseq.end_1=99147415;refseq.end_2=99147415;refseq.end_3=99147415;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1662;refseq.mrnaCoord_2=1659;refseq.mrnaCoord_3=1266;refseq.name2_1=MINA;refseq.name2_2=MINA;refseq.name2_3=MINA;refseq.name_1=NM_001042533;refseq.name_2=NM_032778;refseq.name_3=NM_153182;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A386T;refseq.proteinCoordStr_2=p.A385T;refseq.proteinCoordStr_3=p.A386T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=99147415;refseq.start_2=99147415;refseq.start_3=99147415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr3 99151479 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.959A>G;refseq.codingCoordStr_2=c.956A>G;refseq.codingCoordStr_3=c.959A>G;refseq.codonCoord_1=320;refseq.codonCoord_2=319;refseq.codonCoord_3=320;refseq.end_1=99151479;refseq.end_2=99151479;refseq.end_3=99151479;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1465;refseq.mrnaCoord_2=1462;refseq.mrnaCoord_3=1069;refseq.name2_1=MINA;refseq.name2_2=MINA;refseq.name2_3=MINA;refseq.name_1=NM_001042533;refseq.name_2=NM_032778;refseq.name_3=NM_153182;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E320G;refseq.proteinCoordStr_2=p.E319G;refseq.proteinCoordStr_3=p.E320G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=71;refseq.spliceDist_2=68;refseq.spliceDist_3=71;refseq.start_1=99151479;refseq.start_2=99151479;refseq.start_3=99151479;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr3 99155958 . A C 424.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=98.69;MQ0=0;OQ=7296.91;QD=36.48;RankSumP=1.00000;SB=-2231.12;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.753T>G;refseq.codingCoordStr_2=c.753T>G;refseq.codingCoordStr_3=c.753T>G;refseq.codonCoord_1=251;refseq.codonCoord_2=251;refseq.codonCoord_3=251;refseq.end_1=99155958;refseq.end_2=99155958;refseq.end_3=99155958;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1259;refseq.mrnaCoord_2=1259;refseq.mrnaCoord_3=863;refseq.name2_1=MINA;refseq.name2_2=MINA;refseq.name2_3=MINA;refseq.name_1=NM_001042533;refseq.name_2=NM_032778;refseq.name_3=NM_153182;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S251S;refseq.proteinCoordStr_2=p.S251S;refseq.proteinCoordStr_3=p.S251S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=99155958;refseq.start_2=99155958;refseq.start_3=99155958;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr3 99160664 . G A 135.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.80;MQ0=0;OQ=2399.75;QD=18.60;RankSumP=0.0817030;SB=-406.18;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.602C>T;refseq.codingCoordStr_2=c.602C>T;refseq.codingCoordStr_3=c.602C>T;refseq.codonCoord_1=201;refseq.codonCoord_2=201;refseq.codonCoord_3=201;refseq.end_1=99160664;refseq.end_2=99160664;refseq.end_3=99160664;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1108;refseq.mrnaCoord_2=1108;refseq.mrnaCoord_3=712;refseq.name2_1=MINA;refseq.name2_2=MINA;refseq.name2_3=MINA;refseq.name_1=NM_001042533;refseq.name_2=NM_032778;refseq.name_3=NM_153182;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P201L;refseq.proteinCoordStr_2=p.P201L;refseq.proteinCoordStr_3=p.P201L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=99160664;refseq.start_2=99160664;refseq.start_3=99160664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/0 chr3 99289306 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=1573.46;QD=17.10;RankSumP=0.443793;SB=-407.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.600G>A;refseq.codonCoord=200;refseq.end=99289306;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=600;refseq.name=NM_054106;refseq.name2=OR5AC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M200I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-331;refseq.start=99289306;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr3 99289634 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=2433.65;QD=21.35;RankSumP=0.0316454;SB=-507.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.928T>C;refseq.codonCoord=310;refseq.end=99289634;refseq.frame=0;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=928;refseq.name=NM_054106;refseq.name2=OR5AC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.*310Q;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=99289634;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 99351112 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1126;Dels=0.00;HRun=3;HaplotypeScore=23.89;MQ=80.47;MQ0=21;OQ=20652.21;QD=18.34;RankSumP=0.00160214;SB=-7439.69;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.193A>G;refseq.codonCoord=65;refseq.end=99351112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_001005514;refseq.name2=OR5H14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N65D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=193;refseq.start=99351112;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr3 99351315 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.396T>C;refseq.codonCoord=132;refseq.end=99351315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_001005514;refseq.name2=OR5H14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y132Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=396;refseq.start=99351315;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr3 99465947 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=974;Dels=0.00;HRun=0;HaplotypeScore=14.60;MQ=93.85;MQ0=21;OQ=23803.72;QD=24.44;RankSumP=0.388365;SB=-8864.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.129C>G;refseq.codonCoord=43;refseq.end=99465947;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=129;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L43L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=129;refseq.start=99465947;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr3 99466081 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=730;Dels=0.00;HRun=2;HaplotypeScore=7.45;MQ=85.59;MQ0=19;OQ=13047.79;QD=17.87;RankSumP=0.00175336;SB=-4101.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.263C>T;refseq.codonCoord=88;refseq.end=99466081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S88L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=263;refseq.start=99466081;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 0/1 chr3 99466187 . T A 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.448255;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.369T>A;refseq.codonCoord=123;refseq.end=99466187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T123T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=369;refseq.start=99466187;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/0 chr3 99466189 . T A 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.150969;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.371T>A;refseq.codonCoord=124;refseq.end=99466189;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V124E;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=371;refseq.start=99466189;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr3 99466251 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=84.98;MQ0=14;OQ=8602.84;QD=19.51;RankSumP=0.230075;SB=-3328.98;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.433G>C;refseq.codonCoord=145;refseq.end=99466251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A145P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=433;refseq.start=99466251;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr3 99466401 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=71.66;MQ0=35;OQ=2285.40;QD=15.04;RankSumP=0.175001;SB=-916.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.583T>C;refseq.codonCoord=195;refseq.end=99466401;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C195R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-396;refseq.start=99466401;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr3 99466632 . A G 209.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=96.36;MQ0=0;OQ=2715.74;QD=13.93;RankSumP=0.482824;SB=-1367.74;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.814A>G;refseq.codonCoord=272;refseq.end=99466632;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T272A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-165;refseq.start=99466632;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr3 99466671 . G A 239.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=6.77;MQ=89.98;MQ0=8;OQ=4701.53;QD=21.27;RankSumP=0.481278;SB=-2018.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.853G>A;refseq.codonCoord=285;refseq.end=99466671;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_001005479;refseq.name2=OR5H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D285N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-126;refseq.start=99466671;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr3 99556288 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.901A>T;refseq.codonCoord=301;refseq.end=99556288;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_001005517;refseq.name2=OR5K4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I301F;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-66;refseq.start=99556288;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr3 99593095 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.896T>G;refseq.codonCoord=299;refseq.end=99593095;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=896;refseq.name=NM_001005516;refseq.name2=OR5K3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M299R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-71;refseq.start=99593095;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr3 99593096 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=7;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.897G>A;refseq.codonCoord=299;refseq.end=99593096;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_001005516;refseq.name2=OR5K3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M299I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-70;refseq.start=99593096;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 1/0 chr3 99699420 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.266667;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.206T>A;refseq.codonCoord=69;refseq.end=99699420;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_001004737;refseq.name2=OR5K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=206;refseq.start=99699420;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr3 99699868 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=12.26;MQ=76.96;MQ0=87;OQ=5820.18;QD=15.82;RankSumP=0.486038;SB=-2201.17;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.654T>A;refseq.codonCoord=218;refseq.end=99699868;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=654;refseq.name=NM_001004737;refseq.name2=OR5K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y218*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-298;refseq.start=99699868;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 1/0 chr3 99783044 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1174T>G;refseq.codonCoord=392;refseq.end=99783044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_000097;refseq.name2=CPOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y392D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=99783044;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr3 99787157 . T C 231.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=7.85;MQ=97.51;MQ0=0;OQ=3452.88;QD=38.80;RankSumP=1.00000;SB=-1488.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.990A>G;refseq.codonCoord=330;refseq.end=99787157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_000097;refseq.name2=CPOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E330E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=37;refseq.start=99787157;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr3 101049864 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.3346A>C;refseq.codingCoordStr_3=c.2626A>C;refseq.codingCoordStr_4=c.3346A>C;refseq.codonCoord_2=1116;refseq.codonCoord_3=876;refseq.codonCoord_4=1116;refseq.end_1=101348496;refseq.end_2=101049864;refseq.end_3=101049864;refseq.end_4=101049864;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=3809;refseq.mrnaCoord_3=2872;refseq.mrnaCoord_4=3809;refseq.name2_1=C3orf26;refseq.name2_2=FILIP1L;refseq.name2_3=FILIP1L;refseq.name2_4=FILIP1L;refseq.name_1=NM_032359;refseq.name_2=NM_001042459;refseq.name_3=NM_014890;refseq.name_4=NM_182909;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T1116P;refseq.proteinCoordStr_3=p.T876P;refseq.proteinCoordStr_4=p.T1116P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_2=-403;refseq.spliceDist_3=-403;refseq.spliceDist_4=-36;refseq.start_1=101019588;refseq.start_2=101049864;refseq.start_3=101049864;refseq.start_4=101049864;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr3 101050470 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.2740A>C;refseq.codingCoordStr_3=c.2020A>C;refseq.codingCoordStr_4=c.2740A>C;refseq.codonCoord_2=914;refseq.codonCoord_3=674;refseq.codonCoord_4=914;refseq.end_1=101348496;refseq.end_2=101050470;refseq.end_3=101050470;refseq.end_4=101050470;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=3203;refseq.mrnaCoord_3=2266;refseq.mrnaCoord_4=3203;refseq.name2_1=C3orf26;refseq.name2_2=FILIP1L;refseq.name2_3=FILIP1L;refseq.name2_4=FILIP1L;refseq.name_1=NM_032359;refseq.name_2=NM_001042459;refseq.name_3=NM_014890;refseq.name_4=NM_182909;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T914P;refseq.proteinCoordStr_3=p.T674P;refseq.proteinCoordStr_4=p.T914P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_2=-1009;refseq.spliceDist_3=-1009;refseq.spliceDist_4=-642;refseq.start_1=101019588;refseq.start_2=101050470;refseq.start_3=101050470;refseq.start_4=101050470;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr3 101125866 . C T 192.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.77;MQ0=0;OQ=10360.69;QD=21.36;RankSumP=0.183475;SB=-4278.69;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.503G>A;refseq.codingCoordStr_3=c.503G>A;refseq.codonCoord_2=168;refseq.codonCoord_3=168;refseq.end_1=101348496;refseq.end_2=101125866;refseq.end_3=101125866;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=966;refseq.mrnaCoord_3=966;refseq.name2_1=C3orf26;refseq.name2_2=FILIP1L;refseq.name2_3=FILIP1L;refseq.name_1=NM_032359;refseq.name_2=NM_001042459;refseq.name_3=NM_182909;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R168H;refseq.proteinCoordStr_3=p.R168H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.start_1=101019588;refseq.start_2=101125866;refseq.start_3=101125866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr3 101369352 . G A 232.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.92;MQ0=0;OQ=7747.20;QD=17.29;RankSumP=0.441331;SB=-2291.25;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.442G>A;refseq.codingCoordStr_2=c.496G>A;refseq.codonCoord_1=148;refseq.codonCoord_2=166;refseq.end_1=101369352;refseq.end_2=101369352;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=501;refseq.mrnaCoord_2=642;refseq.name2_1=C3orf26;refseq.name2_2=C3orf26;refseq.name_1=NM_001167924;refseq.name_2=NM_032359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V148I;refseq.proteinCoordStr_2=p.V166I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=101369352;refseq.start_2=101369352;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr3 101653318 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=3.75;MQ=97.79;MQ0=0;OQ=204.82;QD=1.36;RankSumP=0.317077;SB=-11.76;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.222A>G;refseq.codonCoord=74;refseq.end=101653318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1502;refseq.name=NM_001085451;refseq.name2=LNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q74Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=66;refseq.start=101653318;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr3 101653324 . T C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=6.38;MQ=97.85;MQ0=0;OQ=52.40;QD=0.34;RankSumP=0.327457;SB=-1.12;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=101653324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_001085451;refseq.name2=LNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F76F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=72;refseq.start=101653324;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr3 101657412 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=14.09;MQ=99.00;MQ0=0;OQ=4253.11;QD=19.24;RankSumP=0.0756181;SB=-1428.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.489G>A;refseq.codonCoord=163;refseq.end=101657412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_001085451;refseq.name2=LNP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E163E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=102;refseq.start=101657412;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr3 101837214 . A G 286.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.51;MQ0=0;OQ=3065.16;QD=15.48;RankSumP=0.433808;SB=-1231.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.451A>G;refseq.codonCoord=151;refseq.end=101837214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_032787;refseq.name2=GPR128;refseq.positionType=CDS;refseq.proteinCoordStr=p.K151E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=101837214;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr3 101949708 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=2;HaplotypeScore=4.94;MQ=98.38;MQ0=0;OQ=6621.40;QD=19.71;RankSumP=0.0838894;SB=-2639.77;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.846T>C;refseq.codingCoordStr_2=c.846T>C;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.end_1=101949708;refseq.end_2=101949708;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1005;refseq.mrnaCoord_2=1295;refseq.name2_1=TFG;refseq.name2_2=TFG;refseq.name_1=NM_001007565;refseq.name_2=NM_006070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P282P;refseq.proteinCoordStr_2=p.P282P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=101949708;refseq.start_2=101949708;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr3 102432532 . G A 283.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=9702.02;QD=42.00;RankSumP=1.00000;SB=-4360.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3381C>T;refseq.codonCoord=1127;refseq.end=102432532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3584;refseq.name=NM_016247;refseq.name2=IMPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1127L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-42;refseq.start=102432532;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 102445844 . G A 432.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4666.93;QD=40.94;RankSumP=1.00000;SB=-1751.29;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2021C>T;refseq.codonCoord=674;refseq.end=102445844;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2224;refseq.name=NM_016247;refseq.name2=IMPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T674I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=478;refseq.start=102445844;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr3 102563384 . T C 388.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=8708.07;QD=42.27;RankSumP=1.00000;SB=-3271.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1293A>G;refseq.codingCoordStr_2=c.1488A>G;refseq.codonCoord_1=431;refseq.codonCoord_2=496;refseq.end_1=102563384;refseq.end_2=102563384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1404;refseq.mrnaCoord_2=1599;refseq.name2_1=SENP7;refseq.name2_2=SENP7;refseq.name_1=NM_001077203;refseq.name_2=NM_020654;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E431E;refseq.proteinCoordStr_2=p.E496E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=102563384;refseq.start_2=102563384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr3 102568103 . G A 276.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=98.96;MQ0=0;OQ=12842.78;QD=43.10;RankSumP=1.00000;SB=-6233.61;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.984C>T;refseq.codingCoordStr_2=c.1179C>T;refseq.codonCoord_1=328;refseq.codonCoord_2=393;refseq.end_1=102568103;refseq.end_2=102568103;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1095;refseq.mrnaCoord_2=1290;refseq.name2_1=SENP7;refseq.name2_2=SENP7;refseq.name_1=NM_001077203;refseq.name_2=NM_020654;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T328T;refseq.proteinCoordStr_2=p.T393T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-140;refseq.spliceDist_2=-140;refseq.start_1=102568103;refseq.start_2=102568103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr3 102878395 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.54C>G;refseq.codonCoord_2=18;refseq.end_1=102878395;refseq.end_2=102878395;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=432;refseq.mrnaCoord_2=284;refseq.name2_1=LOC100009676;refseq.name2_2=ZBTB11;refseq.name_1=NR_024407;refseq.name_2=NM_014415;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R18R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=432;refseq.spliceDist_2=-257;refseq.start_1=102878395;refseq.start_2=102878395;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=FilteredInAll GT 0/1 chr3 102926218 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.8T>G;refseq.codonCoord=3;refseq.end=102926218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=35;refseq.name=NM_024548;refseq.name2=CEP97;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=102926218;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 102934123 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.475585;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.663G>A;refseq.codonCoord=221;refseq.end=102934123;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_024548;refseq.name2=CEP97;refseq.positionType=CDS;refseq.proteinCoordStr=p.P221P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-66;refseq.start=102934123;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 102967025 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=559;Dels=0.00;HRun=1;HaplotypeScore=16.68;MQ=98.84;MQ0=0;OQ=23724.10;QD=42.44;RankSumP=1.00000;SB=-11099.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2538G>A;refseq.codonCoord=846;refseq.end=102967025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2565;refseq.name=NM_024548;refseq.name2=CEP97;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q846Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=645;refseq.start=102967025;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr3 103055325 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=331;Dels=0.00;HRun=2;HaplotypeScore=27.30;MQ=97.60;MQ0=0;OQ=302.06;QD=0.91;RankSumP=0.00000;SB=516.66;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.965T>G;refseq.codingCoordStr_2=c.1265T>G;refseq.codonCoord_1=322;refseq.codonCoord_2=422;refseq.end_1=103055325;refseq.end_2=103055325;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1224;refseq.mrnaCoord_2=1380;refseq.name2_1=NFKBIZ;refseq.name2_2=NFKBIZ;refseq.name_1=NM_001005474;refseq.name_2=NM_031419;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V322G;refseq.proteinCoordStr_2=p.V422G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=103055325;refseq.start_2=103055325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 103055328 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.968A>G;refseq.codingCoordStr_2=c.1268A>G;refseq.codonCoord_1=323;refseq.codonCoord_2=423;refseq.end_1=103055328;refseq.end_2=103055328;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1227;refseq.mrnaCoord_2=1383;refseq.name2_1=NFKBIZ;refseq.name2_2=NFKBIZ;refseq.name_1=NM_001005474;refseq.name_2=NM_031419;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E323G;refseq.proteinCoordStr_2=p.E423G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=103055328;refseq.start_2=103055328;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 103640055 . A T 141.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=2;HaplotypeScore=7.06;MQ=97.95;MQ0=0;OQ=4855.84;QD=16.86;RankSumP=0.0609951;SB=-1978.76;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.82A>T;refseq.codonCoord=28;refseq.end=103640055;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_175056;refseq.name2=ZPLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I28F;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=42;refseq.start=103640055;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr3 103640107 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=12.29;MQ=97.85;MQ0=0;OQ=2620.10;QD=11.70;RankSumP=0.422198;SB=-424.03;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.134A>G;refseq.codonCoord=45;refseq.end=103640107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_175056;refseq.name2=ZPLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N45S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-21;refseq.start=103640107;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr3 103663821 . A G 235.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=96.82;MQ0=0;OQ=1386.31;QD=16.70;RankSumP=0.311494;SB=-491.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.637A>G;refseq.codonCoord=213;refseq.end=103663821;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_175056;refseq.name2=ZPLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T213A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=103663821;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr3 103663890 . C A 20.55 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=77;Dels=0.00;HRun=2;HaplotypeScore=13.65;MQ=96.77;MQ0=0;QD=0.27;RankSumP=0.00000;SB=80.29;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.706C>A;refseq.codonCoord=236;refseq.end=103663890;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_175056;refseq.name2=ZPLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q236K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-23;refseq.start=103663890;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr3 106743208 . G A 345.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=98.75;MQ0=0;OQ=10037.98;QD=41.48;RankSumP=1.00000;SB=-3928.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.900G>A;refseq.codonCoord=300;refseq.end=106743208;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_001627;refseq.name2=ALCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.L300L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=42;refseq.start=106743208;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr3 106743286 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=482;Dels=0.00;HRun=1;HaplotypeScore=10.77;MQ=98.61;MQ0=0;OQ=20189.72;QD=41.89;RankSumP=1.00000;SB=-9507.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.978T>C;refseq.codonCoord=326;refseq.end=106743286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_001627;refseq.name2=ALCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.A326A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-14;refseq.start=106743286;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 106751691 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1405T>G;refseq.codonCoord=469;refseq.end=106751691;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1945;refseq.name=NM_001627;refseq.name2=ALCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y469D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=31;refseq.start=106751691;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr3 106905534 . C T 391.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.97;MQ0=0;OQ=3597.76;QD=39.54;RankSumP=1.00000;SB=-726.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1581G>A;refseq.codonCoord=527;refseq.end=106905534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1903;refseq.name=NM_170662;refseq.name2=CBLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T527T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-13;refseq.start=106905534;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr3 106935541 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr3;refseq.codingCoordStr=c.1203+2;refseq.end=106935541;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_170662;refseq.name2=CBLB;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=106935541;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr3 109630233 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=8.59;MQ=98.66;MQ0=0;OQ=4474.92;QD=17.34;RankSumP=0.159189;SB=-1065.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3558G>T;refseq.codonCoord=1186;refseq.end=109630233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3615;refseq.name=NM_014981;refseq.name2=MYH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1186L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=186;refseq.start=109630233;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr3 109630418 . T C 204.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=4.85;MQ=98.91;MQ0=0;OQ=5513.54;QD=19.08;RankSumP=0.202127;SB=-934.50;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3373A>G;refseq.codonCoord=1125;refseq.end=109630418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3430;refseq.name=NM_014981;refseq.name2=MYH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1125A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=109630418;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr3 109671683 . G A 326.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.88;MQ0=0;OQ=3934.28;QD=18.30;RankSumP=0.446505;SB=-1598.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1510C>T;refseq.codonCoord=504;refseq.end=109671683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1567;refseq.name=NM_014981;refseq.name2=MYH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.H504Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=67;refseq.start=109671683;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr3 109780950 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=4147.18;QD=21.71;RankSumP=0.356809;SB=-1551.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.686G>A;refseq.codonCoord=229;refseq.end=109780950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_020890;refseq.name2=KIAA1524;refseq.positionType=CDS;refseq.proteinCoordStr=p.R229Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=14;refseq.start=109780950;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr3 109885776 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.51;MQ0=0;OQ=8305.19;QD=41.95;RankSumP=1.00000;SB=-3094.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2907T>C;refseq.codonCoord=969;refseq.end=109885776;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3329;refseq.name=NM_014648;refseq.name2=DZIP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P969P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=24;refseq.start=109885776;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr3 109957377 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=274;Dels=0.00;HRun=2;HaplotypeScore=141.02;MQ=95.67;MQ0=0;OQ=208.56;QD=0.76;RankSumP=0.00000;SB=411.25;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.274A>C;refseq.codonCoord=92;refseq.end=109957377;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_032579;refseq.name2=RETNLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T92P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=66;refseq.start=109957377;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 109957380 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.271A>C;refseq.codonCoord=91;refseq.end=109957380;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_032579;refseq.name2=RETNLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=63;refseq.start=109957380;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 110122074 . T C 246.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=1586.77;QD=19.59;RankSumP=0.212164;SB=-478.70;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.253A>G;refseq.codonCoord=85;refseq.end=110122074;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_005459;refseq.name2=GUCA1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.M85V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=49;refseq.start=110122074;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 110122113 . C T 357.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1830.31;QD=39.79;RankSumP=1.00000;SB=-483.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.214G>A;refseq.codonCoord=72;refseq.end=110122113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_005459;refseq.name2=GUCA1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V72I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=110122113;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 110160511 . C A 122.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.25;MQ0=0;OQ=341.13;QD=14.83;RankSumP=0.664351;SB=-140.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2946G>T;refseq.codonCoord=982;refseq.end=110160511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3033;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S982S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=147;refseq.start=110160511;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 110172911 . G A 122.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=11.72;MQ=99.00;MQ0=0;OQ=1621.06;QD=12.97;RankSumP=0.492870;SB=-767.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2506C>T;refseq.codonCoord=836;refseq.end=110172911;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2593;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H836Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=29;refseq.start=110172911;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr3 110206673 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=2;HaplotypeScore=5.00;MQ=98.89;MQ0=0;OQ=4027.43;QD=22.88;RankSumP=0.437995;SB=-1113.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1947G>A;refseq.codonCoord=649;refseq.end=110206673;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2034;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M649I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-67;refseq.start=110206673;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr3 110236904 . T C 328.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=98.32;MQ0=0;OQ=5231.16;QD=17.04;RankSumP=0.101918;SB=-2088.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1432A>G;refseq.codonCoord=478;refseq.end=110236904;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M478V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-28;refseq.start=110236904;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 110236928 . A T 372.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.22;MQ0=0;OQ=9894.82;QD=34.84;RankSumP=1.00000;SB=-2496.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1408T>A;refseq.codonCoord=470;refseq.end=110236928;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1495;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F470I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-52;refseq.start=110236928;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 110236950 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=97.93;MQ0=0;OQ=2515.67;QD=11.81;RankSumP=0.155662;SB=-199.23;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1386T>C;refseq.codonCoord=462;refseq.end=110236950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1473;refseq.name=NM_014429;refseq.name2=MORC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D462D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=56;refseq.start=110236950;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr3 110532074 . T C 258.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.69;MQ0=0;OQ=4266.44;QD=18.79;RankSumP=0.338122;SB=-1502.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.666A>G;refseq.codonCoord=222;refseq.end=110532074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_018189;refseq.name2=DPPA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P222P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-14;refseq.start=110532074;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 112838773 . G C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=4;HaplotypeScore=3.95;MQ=98.88;MQ0=0;OQ=14379.47;QD=49.41;RankSumP=1.00000;SB=-7183.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1362G>C;refseq.codingCoordStr_2=c.1410G>C;refseq.codonCoord_1=454;refseq.codonCoord_2=470;refseq.end_1=112838773;refseq.end_2=112838773;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1532;refseq.mrnaCoord_2=1580;refseq.name2_1=CD96;refseq.name2_2=CD96;refseq.name_1=NM_005816;refseq.name_2=NM_198196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P454P;refseq.proteinCoordStr_2=p.P470P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=112838773;refseq.start_2=112838773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr3 113146841 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=4.41669e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.2386T>C;refseq.codingCoordStr_2=c.2434T>C;refseq.codingCoordStr_3=c.2434T>C;refseq.codingCoordStr_4=c.2305T>C;refseq.codonCoord_1=796;refseq.codonCoord_2=812;refseq.codonCoord_3=812;refseq.codonCoord_4=769;refseq.end_1=113146841;refseq.end_2=113146841;refseq.end_3=113146841;refseq.end_4=113146841;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2658;refseq.mrnaCoord_2=2845;refseq.mrnaCoord_3=2606;refseq.mrnaCoord_4=2716;refseq.name2_1=PHLDB2;refseq.name2_2=PHLDB2;refseq.name2_3=PHLDB2;refseq.name2_4=PHLDB2;refseq.name_1=NM_001134437;refseq.name_2=NM_001134438;refseq.name_3=NM_001134439;refseq.name_4=NM_145753;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S796P;refseq.proteinCoordStr_2=p.S812P;refseq.proteinCoordStr_3=p.S812P;refseq.proteinCoordStr_4=p.S769P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=113146841;refseq.start_2=113146841;refseq.start_3=113146841;refseq.start_4=113146841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr3 113171268 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=383;Dels=0.00;HRun=3;HaplotypeScore=14.58;MQ=98.41;MQ0=0;OQ=6676.87;QD=17.43;RankSumP=0.293975;SB=-2421.82;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.3309C>T;refseq.codingCoordStr_2=c.3357C>T;refseq.codingCoordStr_3=c.3357C>T;refseq.codingCoordStr_4=c.3228C>T;refseq.codonCoord_1=1103;refseq.codonCoord_2=1119;refseq.codonCoord_3=1119;refseq.codonCoord_4=1076;refseq.end_1=113171268;refseq.end_2=113171268;refseq.end_3=113171268;refseq.end_4=113171268;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3581;refseq.mrnaCoord_2=3768;refseq.mrnaCoord_3=3529;refseq.mrnaCoord_4=3639;refseq.name2_1=PHLDB2;refseq.name2_2=PHLDB2;refseq.name2_3=PHLDB2;refseq.name2_4=PHLDB2;refseq.name_1=NM_001134437;refseq.name_2=NM_001134438;refseq.name_3=NM_001134439;refseq.name_4=NM_145753;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D1103D;refseq.proteinCoordStr_2=p.D1119D;refseq.proteinCoordStr_3=p.D1119D;refseq.proteinCoordStr_4=p.D1076D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.spliceDist_4=42;refseq.start_1=113171268;refseq.start_2=113171268;refseq.start_3=113171268;refseq.start_4=113171268;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 0/1 chr3 113263417 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1026C>A;refseq.codonCoord_2=342;refseq.end_1=113263417;refseq.end_2=113263417;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1309;refseq.mrnaCoord_2=1196;refseq.name2_1=TMPRSS7;refseq.name2_2=TMPRSS7;refseq.name_1=NR_026734;refseq.name_2=NM_001042575;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D342E;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=113263417;refseq.start_2=113263417;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr3 113282535 . A T 117.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=19.60;MQ=98.74;MQ0=0;OQ=10776.18;QD=21.68;RankSumP=0.493223;SB=-4213.58;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.2068A>T;refseq.codonCoord_2=690;refseq.end_1=113282535;refseq.end_2=113282535;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2351;refseq.mrnaCoord_2=2238;refseq.name2_1=TMPRSS7;refseq.name2_2=TMPRSS7;refseq.name_1=NR_026734;refseq.name_2=NM_001042575;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S690C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=113282535;refseq.start_2=113282535;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr3 113314412 . C A 24.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=10;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=98.05;MQ0=0;QD=2.44;RankSumP=0.0857143;SB=-33.90;SecondBestBaseQ=17;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.end_1=113318168;refseq.end_2=113314490;refseq.end_3=113314412;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=75;refseq.name2_1=C3orf52;refseq.name2_2=C3orf52;refseq.name2_3=MIR567;refseq.name_1=NM_001171747;refseq.name_2=NM_024616;refseq.name_3=NR_030292;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-24;refseq.start_1=113304513;refseq.start_2=113311161;refseq.start_3=113314412;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr3 113325043 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.288A>C;refseq.codingCoordStr_2=c.486A>C;refseq.codonCoord_1=96;refseq.codonCoord_2=162;refseq.end_1=113325043;refseq.end_2=113325043;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=636;refseq.name2_1=GCET2;refseq.name2_2=GCET2;refseq.name_1=NM_001008756;refseq.name_2=NM_152785;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q96H;refseq.proteinCoordStr_2=p.Q162H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=267;refseq.spliceDist_2=267;refseq.start_1=113325043;refseq.start_2=113325043;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr3 113400925 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=4.43725e-08;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2456C>A;refseq.codonCoord=819;refseq.end=113400925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2678;refseq.name=NM_183061;refseq.name2=SLC9A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T819K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-68;refseq.start=113400925;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr3 113465847 . G A 183.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2240.72;QD=41.49;RankSumP=1.00000;SB=-998.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.912C>T;refseq.codonCoord=304;refseq.end=113465847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_183061;refseq.name2=SLC9A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L304L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=34;refseq.start=113465847;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 113546540 . C A 129.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.65;MQ0=0;OQ=1075.59;QD=16.55;RankSumP=0.598604;SB=-449.08;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.211C>A;refseq.codingCoordStr_2=c.136C>A;refseq.codonCoord_1=71;refseq.codonCoord_2=46;refseq.end_1=113546540;refseq.end_2=113546540;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=280;refseq.name2_1=CD200;refseq.name2_2=CD200;refseq.name_1=NM_001004196;refseq.name_2=NM_005944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P71T;refseq.proteinCoordStr_2=p.P46T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=113546540;refseq.start_2=113546540;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr3 113667715 . G A 261.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.88;MQ0=0;OQ=23748.64;QD=43.26;RankSumP=1.00000;SB=-6944.03;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.656C>T;refseq.codingCoordStr_2=c.800C>T;refseq.codonCoord_1=219;refseq.codonCoord_2=267;refseq.end_1=113667715;refseq.end_2=113667715;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=859;refseq.mrnaCoord_2=1003;refseq.name2_1=BTLA;refseq.name2_2=BTLA;refseq.name_1=NM_001085357;refseq.name_2=NM_181780;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P219L;refseq.proteinCoordStr_2=p.P267L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=206;refseq.spliceDist_2=206;refseq.start_1=113667715;refseq.start_2=113667715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr3 113672827 . G T 289.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=9.68;MQ=98.73;MQ0=0;OQ=13173.15;QD=38.74;RankSumP=1.00000;SB=-3974.16;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.469C>A;refseq.codonCoord_2=157;refseq.end_1=113680981;refseq.end_2=113672827;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=672;refseq.name2_1=BTLA;refseq.name2_2=BTLA;refseq.name_1=NM_001085357;refseq.name_2=NM_181780;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R157S;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=66;refseq.start_1=113671352;refseq.start_2=113672827;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr3 114028587 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.622A>C;refseq.codonCoord=208;refseq.end=114028587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_001008784;refseq.name2=CD200R1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T208P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-58;refseq.start=114028587;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 114028601 . T G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.289572;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.608A>C;refseq.codonCoord=203;refseq.end=114028601;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_001008784;refseq.name2=CD200R1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.H203P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-72;refseq.start=114028601;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 114028996 . C A 204.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=1;HaplotypeScore=5.70;MQ=96.20;MQ0=0;OQ=7149.72;QD=19.48;RankSumP=0.270214;SB=-2583.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.338G>T;refseq.codonCoord=113;refseq.end=114028996;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_001008784;refseq.name2=CD200R1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R113L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-93;refseq.start=114028996;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr3 114130410 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.712A>C;refseq.codingCoordStr_2=c.643A>C;refseq.codonCoord_1=238;refseq.codonCoord_2=215;refseq.end_1=114130410;refseq.end_2=114130410;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=945;refseq.mrnaCoord_2=876;refseq.name2_1=CD200R1;refseq.name2_2=CD200R1;refseq.name_1=NM_138806;refseq.name_2=NM_170780;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T238P;refseq.proteinCoordStr_2=p.T215P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=114130410;refseq.start_2=114130410;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr3 114192563 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.27A>G;refseq.codingCoordStr_2=c.27A>G;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=114192563;refseq.end_2=114192563;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=74;refseq.mrnaCoord_2=74;refseq.name2_1=GTPBP8;refseq.name2_2=GTPBP8;refseq.name_1=NM_014170;refseq.name_2=NM_138485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G9G;refseq.proteinCoordStr_2=p.G9G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=114192563;refseq.start_2=114192563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 114209874 . A T 352.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=98.77;MQ0=0;OQ=3920.06;QD=18.85;RankSumP=0.0546738;SB=-1464.28;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.1069T>A;refseq.codonCoord_3=357;refseq.end_1=114209874;refseq.end_2=114209874;refseq.end_3=114209874;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=979;refseq.mrnaCoord_2=975;refseq.mrnaCoord_3=1130;refseq.name2_1=C3orf17;refseq.name2_2=C3orf17;refseq.name2_3=C3orf17;refseq.name_1=NR_027794;refseq.name_2=NR_027796;refseq.name_3=NM_015412;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.F357I;refseq.referenceAA_3=Phe;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.start_1=114209874;refseq.start_2=114209874;refseq.start_3=114209874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ile;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr3 114212613 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.882A>C;refseq.codonCoord_3=294;refseq.end_1=114212613;refseq.end_2=114212613;refseq.end_3=114212613;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=788;refseq.mrnaCoord_3=943;refseq.name2_1=C3orf17;refseq.name2_2=C3orf17;refseq.name2_3=C3orf17;refseq.name_1=NR_027794;refseq.name_2=NR_027796;refseq.name_3=NM_015412;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G294G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=114212613;refseq.start_2=114212613;refseq.start_3=114212613;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr3 114212802 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.693A>C;refseq.codonCoord_3=231;refseq.end_1=114212802;refseq.end_2=114212802;refseq.end_3=114212802;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=603;refseq.mrnaCoord_2=599;refseq.mrnaCoord_3=754;refseq.name2_1=C3orf17;refseq.name2_2=C3orf17;refseq.name2_3=C3orf17;refseq.name_1=NR_027794;refseq.name_2=NR_027796;refseq.name_3=NM_015412;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G231G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=142;refseq.spliceDist_2=142;refseq.spliceDist_3=142;refseq.start_1=114212802;refseq.start_2=114212802;refseq.start_3=114212802;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr3 114474002 . C T 107.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=99.00;MQ0=0;OQ=890.84;QD=14.37;RankSumP=0.687990;SB=-367.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=114474002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_033254;refseq.name2=BOC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I241I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=56;refseq.start=114474002;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr3 114474649 . C T 227.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=2.71;MQ=98.93;MQ0=0;OQ=5510.87;QD=21.78;RankSumP=0.374404;SB=-1791.26;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1005C>T;refseq.codonCoord=335;refseq.end=114474649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_033254;refseq.name2=BOC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P335P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=44;refseq.start=114474649;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr3 114480244 . A G 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=97.71;MQ0=0;OQ=126.84;QD=4.37;RankSumP=0.280816;SB=-85.74;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1737A>G;refseq.codonCoord=579;refseq.end=114480244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2076;refseq.name=NM_033254;refseq.name2=BOC;refseq.positionType=CDS;refseq.proteinCoordStr=p.K579K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=35;refseq.start=114480244;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr3 114480955 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=9.89;MQ=98.92;MQ0=0;OQ=1871.05;QD=10.17;RankSumP=0.0949690;SB=-755.32;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1983A>G;refseq.codonCoord=661;refseq.end=114480955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2322;refseq.name=NM_033254;refseq.name2=BOC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P661P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-38;refseq.start=114480955;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr3 114602107 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=205;Dels=0.00;HRun=1;HaplotypeScore=4.54;MQ=98.45;MQ0=0;OQ=3176.48;QD=15.50;RankSumP=0.468327;SB=-1074.86;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1449T>C;refseq.codingCoordStr_2=c.1449T>C;refseq.codonCoord_1=483;refseq.codonCoord_2=483;refseq.end_1=114602107;refseq.end_2=114602107;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1516;refseq.name2_1=WDR52;refseq.name2_2=WDR52;refseq.name_1=NM_001164496;refseq.name_2=NM_018338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y483Y;refseq.proteinCoordStr_2=p.Y483Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=114602107;refseq.start_2=114602107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr3 114627696 . C T 104.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.64;MQ0=0;OQ=3985.81;QD=19.07;RankSumP=0.423292;SB=-1624.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.372G>A;refseq.codingCoordStr_2=c.372G>A;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=114627696;refseq.end_2=114627696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=439;refseq.mrnaCoord_2=439;refseq.name2_1=WDR52;refseq.name2_2=WDR52;refseq.name_1=NM_001164496;refseq.name_2=NM_018338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L124L;refseq.proteinCoordStr_2=p.L124L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=114627696;refseq.start_2=114627696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr3 114628820 . T C 182.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4712.31;QD=18.55;RankSumP=0.348635;SB=-1167.89;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.157A>G;refseq.codingCoordStr_2=c.157A>G;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=114628820;refseq.end_2=114628820;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=224;refseq.mrnaCoord_2=224;refseq.name2_1=WDR52;refseq.name2_2=WDR52;refseq.name_1=NM_001164496;refseq.name_2=NM_018338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K53E;refseq.proteinCoordStr_2=p.K53E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=114628820;refseq.start_2=114628820;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr3 114658812 . G A 355.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.92;MQ0=0;OQ=6033.56;QD=20.66;RankSumP=0.396384;SB=-1910.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1518C>T;refseq.codonCoord=506;refseq.end=114658812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1809;refseq.name=NM_144718;refseq.name2=CCDC52;refseq.positionType=CDS;refseq.proteinCoordStr=p.P506P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=83;refseq.start=114658812;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr3 114670338 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=118;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=99.00;MQ0=0;OQ=2184.88;QD=18.52;RankSumP=0.350442;SB=-688.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=114670338;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_144718;refseq.name2=CCDC52;refseq.positionType=CDS;refseq.proteinCoordStr=p.V284M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-40;refseq.start=114670338;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr3 114704726 . G A 162.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.49;MQ0=0;OQ=1803.51;QD=19.60;RankSumP=0.394754;SB=-885.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.138C>T;refseq.codonCoord=46;refseq.end=114704726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_144718;refseq.name2=CCDC52;refseq.positionType=CDS;refseq.proteinCoordStr=p.P46P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=114704726;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr3 114734763 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=8.24703e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.205A>C;refseq.codonCoord=69;refseq.end=114734763;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_017699;refseq.name2=SIDT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T69P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-18;refseq.start=114734763;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 114856620 . A G 290.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=98.75;MQ0=0;OQ=13934.06;QD=39.03;RankSumP=1.00000;SB=-5684.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.6599T>C;refseq.codonCoord=2200;refseq.end=114856620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7010;refseq.name=NM_001009899;refseq.name2=KIAA2018;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2200A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=6343;refseq.start=114856620;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr3 114862291 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.928A>C;refseq.codonCoord=310;refseq.end=114862291;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1339;refseq.name=NM_001009899;refseq.name2=KIAA2018;refseq.positionType=CDS;refseq.proteinCoordStr=p.T310P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=672;refseq.start=114862291;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr3 114982612 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.108T>G;refseq.codonCoord=36;refseq.end=114982612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_001690;refseq.name2=ATP6V1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G36G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=26;refseq.start=114982612;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 114991323 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.934G>T;refseq.codonCoord=312;refseq.end=114991323;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_001690;refseq.name2=ATP6V1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-55;refseq.start=114991323;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr3 115006956 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1655G>C;refseq.codonCoord=552;refseq.end=115006956;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1721;refseq.name=NM_001690;refseq.name2=ATP6V1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R552P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=66;refseq.start=115006956;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr3 115006957 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1656T>C;refseq.codonCoord=552;refseq.end=115006957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1722;refseq.name=NM_001690;refseq.name2=ATP6V1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R552R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=67;refseq.start=115006957;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr3 115077067 . A G 220.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=509;Dels=0.00;HRun=0;HaplotypeScore=13.42;MQ=98.98;MQ0=0;OQ=10596.39;QD=20.82;RankSumP=0.431566;SB=-4043.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.306A>G;refseq.codonCoord=102;refseq.end=115077067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_017577;refseq.name2=GRAMD1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L102L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=47;refseq.start=115077067;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr3 115137897 . C T 112.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.58;MQ0=0;OQ=1464.60;QD=15.42;RankSumP=0.0302707;SB=-678.69;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.936C>T;refseq.codingCoordStr_2=c.1551C>T;refseq.codonCoord_1=312;refseq.codonCoord_2=517;refseq.end_1=115137897;refseq.end_2=115137897;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1354;refseq.mrnaCoord_2=1627;refseq.name2_1=GRAMD1C;refseq.name2_2=GRAMD1C;refseq.name_1=NM_001172105;refseq.name_2=NM_017577;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N312N;refseq.proteinCoordStr_2=p.N517N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=115137897;refseq.start_2=115137897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr3 115155815 . A G 250.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=1395.55;QD=38.77;RankSumP=1.00000;SB=-398.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.740A>G;refseq.codonCoord=247;refseq.end=115155815;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_173570;refseq.name2=ZDHHC23;refseq.positionType=CDS;refseq.proteinCoordStr=p.K247R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-133;refseq.start=115155815;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr3 115207252 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1661A>C;refseq.codonCoord=554;refseq.end=115207252;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1808;refseq.name=NM_020817;refseq.name2=KIAA1407;refseq.positionType=CDS;refseq.proteinCoordStr=p.N554T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-208;refseq.start=115207252;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 115266830 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.36T>G;refseq.codonCoord=12;refseq.end=115266830;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_024638;refseq.name2=QTRTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C12W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=57;refseq.start=115266830;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr3 115341040 . C T 336.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=98.31;MQ0=0;OQ=6542.75;QD=38.94;RankSumP=1.00000;SB=-1745.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.720G>A;refseq.codingCoordStr_2=c.720G>A;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=115341040;refseq.end_2=115341040;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1151;refseq.mrnaCoord_2=1151;refseq.name2_1=DRD3;refseq.name2_2=DRD3;refseq.name_1=NM_000796;refseq.name_2=NM_033663;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q240Q;refseq.proteinCoordStr_2=p.Q240Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=115341040;refseq.start_2=115341040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr3 115373505 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.08;MQ0=0;OQ=82.88;QD=8.29;RankSumP=0.457143;SB=-44.64;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.25G>A;refseq.codingCoordStr_2=c.25G>A;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=115373505;refseq.end_2=115373505;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=456;refseq.mrnaCoord_2=456;refseq.name2_1=DRD3;refseq.name2_2=DRD3;refseq.name_1=NM_000796;refseq.name_2=NM_033663;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G9S;refseq.proteinCoordStr_2=p.G9S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=115373505;refseq.start_2=115373505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr3 115437854 . T G 108.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=98.10;MQ0=0;OQ=2058.59;QD=32.68;RankSumP=1.00000;SB=-477.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.758A>C;refseq.codonCoord=253;refseq.end=115437854;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1262;refseq.name=NM_007136;refseq.name2=ZNF80;refseq.positionType=CDS;refseq.proteinCoordStr=p.D253A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1262;refseq.start=115437854;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 115437877 . A C 119.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.58;MQ0=0;OQ=1743.48;QD=18.16;RankSumP=0.00458708;SB=-452.90;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.735T>G;refseq.codonCoord=245;refseq.end=115437877;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1239;refseq.name=NM_007136;refseq.name2=ZNF80;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y245*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=1239;refseq.start=115437877;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=filterInsoap-gatk GT 0/1 chr3 115437955 . G A 304.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=98.87;MQ0=0;OQ=13534.39;QD=41.52;RankSumP=1.00000;SB=-5209.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=115437955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_007136;refseq.name2=ZNF80;refseq.positionType=CDS;refseq.proteinCoordStr=p.C219C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1161;refseq.start=115437955;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr3 115438010 . C T 267.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.72;MQ0=0;OQ=14939.56;QD=40.27;RankSumP=1.00000;SB=-7302.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.602G>A;refseq.codonCoord=201;refseq.end=115438010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_007136;refseq.name2=ZNF80;refseq.positionType=CDS;refseq.proteinCoordStr=p.R201H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=1106;refseq.start=115438010;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr3 115438017 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.595A>C;refseq.codonCoord=199;refseq.end=115438017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_007136;refseq.name2=ZNF80;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1099;refseq.start=115438017;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 116878018 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.607C>A;refseq.codingCoordStr_2=c.499C>A;refseq.codonCoord_1=203;refseq.codonCoord_2=167;refseq.end_1=116878018;refseq.end_2=116878018;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1281;refseq.mrnaCoord_2=885;refseq.name2_1=GAP43;refseq.name2_2=GAP43;refseq.name_1=NM_001130064;refseq.name_2=NM_002045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q203K;refseq.proteinCoordStr_2=p.Q167K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-130;refseq.spliceDist_2=-130;refseq.start_1=116878018;refseq.start_2=116878018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr3 116878060 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.649A>C;refseq.codingCoordStr_2=c.541A>C;refseq.codonCoord_1=217;refseq.codonCoord_2=181;refseq.end_1=116878060;refseq.end_2=116878060;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1323;refseq.mrnaCoord_2=927;refseq.name2_1=GAP43;refseq.name2_2=GAP43;refseq.name_1=NM_001130064;refseq.name_2=NM_002045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T217P;refseq.proteinCoordStr_2=p.T181P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=116878060;refseq.start_2=116878060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr3 120104354 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=828;Dels=0.00;HRun=1;HaplotypeScore=26.13;MQ=98.78;MQ0=0;OQ=14982.19;QD=18.09;RankSumP=0.00702777;SB=-5909.54;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.999G>T;refseq.codingCoordStr_2=c.996G>T;refseq.codonCoord_1=333;refseq.codonCoord_2=332;refseq.end_1=120104354;refseq.end_2=120104354;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1246;refseq.mrnaCoord_2=1377;refseq.name2_1=IGSF11;refseq.name2_2=IGSF11;refseq.name_1=NM_001015887;refseq.name_2=NM_152538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E333D;refseq.proteinCoordStr_2=p.E332D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.start_1=120104354;refseq.start_2=120104354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=filterInsoap-gatk GT 1/0 chr3 120131750 . G T 243.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.42;MQ0=0;OQ=2036.71;QD=15.09;RankSumP=0.416929;SB=-741.40;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.115C>A;refseq.codingCoordStr_2=c.112C>A;refseq.codonCoord_1=39;refseq.codonCoord_2=38;refseq.end_1=120131750;refseq.end_2=120131750;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=362;refseq.mrnaCoord_2=493;refseq.name2_1=IGSF11;refseq.name2_2=IGSF11;refseq.name_1=NM_001015887;refseq.name_2=NM_152538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P39T;refseq.proteinCoordStr_2=p.P38T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=120131750;refseq.start_2=120131750;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr3 120348022 . A G 171.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=9.41;MQ=98.30;MQ0=0;OQ=2581.88;QD=15.74;RankSumP=0.455900;SB=-1281.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.296A>G;refseq.codonCoord=99;refseq.end=120348022;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_152539;refseq.name2=C3orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.D99G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=336;refseq.start=120348022;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr3 120348299 . C T 172 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.86;MQ0=0;OQ=2446.43;QD=13.15;RankSumP=0.336118;SB=-733.23;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.573C>T;refseq.codonCoord=191;refseq.end=120348299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_152539;refseq.name2=C3orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.S191S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=613;refseq.start=120348299;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr3 120349066 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=20.89;MQ=98.43;MQ0=0;OQ=4401.92;QD=16.07;RankSumP=0.0188541;SB=-1771.10;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1340C>T;refseq.codonCoord=447;refseq.end=120349066;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_152539;refseq.name2=C3orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.S447L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-59;refseq.start=120349066;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr3 120349737 . C G 364.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=98.89;MQ0=0;OQ=5722.42;QD=20.36;RankSumP=0.457626;SB=-2196.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1419C>G;refseq.codonCoord=473;refseq.end=120349737;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1459;refseq.name=NM_152539;refseq.name2=C3orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.D473E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=21;refseq.start=120349737;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr3 120391849 . A G 259.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=11.55;MQ=98.88;MQ0=0;OQ=14578.21;QD=40.05;RankSumP=1.00000;SB=-4436.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.338A>G;refseq.codonCoord=113;refseq.end=120391849;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_006952;refseq.name2=UPK1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q113R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=120391849;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr3 120600794 . A G 250.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=1.52;MQ=98.87;MQ0=0;OQ=6850.63;QD=39.60;RankSumP=1.00000;SB=-2576.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1065A>G;refseq.codonCoord=355;refseq.end=120600794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_020754;refseq.name2=ARHGAP31;refseq.positionType=CDS;refseq.proteinCoordStr=p.V355V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=120600794;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 120850080 . T C 263.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2431.21;QD=38.59;RankSumP=1.00000;SB=-641.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.726A>G;refseq.codonCoord=242;refseq.end=120850080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_022135;refseq.name2=POPDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S242S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=126;refseq.start=120850080;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr3 120908997 . T C 359.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.68;MQ0=0;OQ=8689.17;QD=41.77;RankSumP=1.00000;SB=-3639.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.258T>C;refseq.codonCoord=86;refseq.end=120908997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_033364;refseq.name2=C3orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y86Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=57;refseq.start=120908997;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr3 120917217 . G C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=491;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=98.74;MQ0=0;OQ=23991.16;QD=48.86;RankSumP=1.00000;SB=-6667.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.619G>C;refseq.codonCoord=207;refseq.end=120917217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_033364;refseq.name2=C3orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A207P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-64;refseq.start=120917217;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr3 120984342 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.48A>C;refseq.codonCoord_3=16;refseq.end_1=121008755;refseq.end_2=121008755;refseq.end_3=120984342;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=96;refseq.name2_1=NR1I2;refseq.name2_2=NR1I2;refseq.name2_3=NR1I2;refseq.name_1=NM_003889;refseq.name_2=NM_033013;refseq.name_3=NM_022002;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A16A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_3=-48;refseq.start_1=120983848;refseq.start_2=120983848;refseq.start_3=120984342;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr3 121016600 . T C 177.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=98.41;MQ0=0;OQ=9128.60;QD=35.25;RankSumP=1.00000;SB=-4308.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.879T>C;refseq.codingCoordStr_2=c.996T>C;refseq.codingCoordStr_3=c.768T>C;refseq.codonCoord_1=293;refseq.codonCoord_2=332;refseq.codonCoord_3=256;refseq.end_1=121016600;refseq.end_2=121016600;refseq.end_3=121016600;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2718;refseq.mrnaCoord_2=1044;refseq.mrnaCoord_3=2607;refseq.name2_1=NR1I2;refseq.name2_2=NR1I2;refseq.name2_3=NR1I2;refseq.name_1=NM_003889;refseq.name_2=NM_022002;refseq.name_3=NM_033013;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N293N;refseq.proteinCoordStr_2=p.N332N;refseq.proteinCoordStr_3=p.N256N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=121016600;refseq.start_2=121016600;refseq.start_3=121016600;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/1 chr3 121369238 . G C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=5.11;MQ=98.38;MQ0=0;OQ=5198.46;QD=49.04;RankSumP=1.00000;SB=-1361.12;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1764C>G;refseq.codingCoordStr_2=c.1776C>G;refseq.codonCoord_1=588;refseq.codonCoord_2=592;refseq.end_1=121369238;refseq.end_2=121369238;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1961;refseq.mrnaCoord_2=1973;refseq.name2_1=GPR156;refseq.name2_2=GPR156;refseq.name_1=NM_001168271;refseq.name_2=NM_153002;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L588L;refseq.proteinCoordStr_2=p.L592L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=684;refseq.spliceDist_2=684;refseq.start_1=121369238;refseq.start_2=121369238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr3 121369466 . T A 384.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=97.38;MQ0=0;OQ=4094.90;QD=35.00;RankSumP=1.00000;SB=-1267.47;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1536A>T;refseq.codingCoordStr_2=c.1548A>T;refseq.codonCoord_1=512;refseq.codonCoord_2=516;refseq.end_1=121369466;refseq.end_2=121369466;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1733;refseq.mrnaCoord_2=1745;refseq.name2_1=GPR156;refseq.name2_2=GPR156;refseq.name_1=NM_001168271;refseq.name_2=NM_153002;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E512D;refseq.proteinCoordStr_2=p.E516D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=456;refseq.spliceDist_2=456;refseq.start_1=121369466;refseq.start_2=121369466;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr3 121872006 . T A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.240A>T;refseq.codonCoord=80;refseq.end=121872006;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_000187;refseq.name2=HGD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q80H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-43;refseq.start=121872006;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/1 chr3 122156497 . T C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.321456;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.210T>C;refseq.codonCoord=70;refseq.end=122156497;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_014980;refseq.name2=STXBP5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P70P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=21;refseq.start=122156497;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 122458741 . C G 369.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=98.52;MQ0=0;OQ=6607.07;QD=19.04;RankSumP=0.303565;SB=-2067.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1703C>G;refseq.codonCoord=568;refseq.end=122458741;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1843;refseq.name=NM_014980;refseq.name2=STXBP5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T568S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=44;refseq.start=122458741;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr3 122634502 . G C 207.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.90;MQ0=0;OQ=4601.92;QD=23.24;RankSumP=0.365005;SB=-1752.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.7612C>G;refseq.codonCoord=2538;refseq.end=122634502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7741;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2538V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-48;refseq.start=122634502;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr3 122637664 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=498;Dels=0.00;HRun=0;HaplotypeScore=24.29;MQ=98.89;MQ0=0;OQ=9327.17;QD=18.73;RankSumP=0.0360239;SB=-2791.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.7538A>G;refseq.codonCoord=2513;refseq.end=122637664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7667;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2513R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=122637664;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr3 122669112 . G A 306.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=7.92;MQ=98.96;MQ0=0;OQ=3059.82;QD=18.77;RankSumP=0.497059;SB=-894.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.6911C>T;refseq.codonCoord=2304;refseq.end=122669112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7040;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2304V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-57;refseq.start=122669112;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr3 122669141 . T C 173.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=5.82;MQ=98.70;MQ0=0;OQ=4881.84;QD=19.53;RankSumP=0.390315;SB=-1541.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.6882A>G;refseq.codonCoord=2294;refseq.end=122669141;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7011;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2294R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=37;refseq.start=122669141;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr3 122691523 . G C 302.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.77;MQ0=0;OQ=2542.41;QD=18.42;RankSumP=0.425863;SB=-1054.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2945C>G;refseq.codonCoord=982;refseq.end=122691523;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3074;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.T982R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=423;refseq.start=122691523;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr3 122711650 . G A 351.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=9.27;MQ=98.81;MQ0=0;OQ=7929.27;QD=18.53;RankSumP=0.0530380;SB=-2591.92;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1742C>T;refseq.codonCoord=581;refseq.end=122711650;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1871;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A581V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-75;refseq.start=122711650;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 122721439 . G A 175.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.74;MQ0=0;OQ=11382.59;QD=42.16;RankSumP=1.00000;SB=-5318.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1437C>T;refseq.codonCoord=479;refseq.end=122721439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.G479G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-32;refseq.start=122721439;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr3 122734738 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=170;Dels=0.00;HRun=0;HaplotypeScore=14.75;MQ=98.62;MQ0=0;OQ=2024.25;QD=11.91;RankSumP=0.227292;SB=-354.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.749A>C;refseq.codonCoord=250;refseq.end=122734738;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.D250A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=122734738;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr3 122746410 . C A 228.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=9.89;MQ=98.82;MQ0=0;OQ=7481.03;QD=37.59;RankSumP=1.00000;SB=-1830.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.197G>T;refseq.codonCoord=66;refseq.end=122746410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_199420;refseq.name2=POLQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R66I;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=34;refseq.start=122746410;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr3 122787830 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.641T>G;refseq.codonCoord=214;refseq.end=122787830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_001012659;refseq.name2=ARGFX;refseq.positionType=CDS;refseq.proteinCoordStr=p.V214G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=272;refseq.start=122787830;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 122823182 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=6.80194e-05;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.216C>G;refseq.codonCoord=72;refseq.end=122823182;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_016298;refseq.name2=FBXO40;refseq.positionType=CDS;refseq.proteinCoordStr=p.C72W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=213;refseq.start=122823182;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr3 122833656 . C G 324.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=98.67;MQ0=0;OQ=6147.20;QD=40.71;RankSumP=1.00000;SB=-2039.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1306G>C;refseq.codonCoord=436;refseq.end=122833656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1431;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V436L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-19;refseq.start=122833656;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr3 122834028 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=2.31;MQ=98.70;MQ0=0;OQ=2027.48;QD=23.58;RankSumP=0.396988;SB=-875.02;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1081G>A;refseq.codonCoord=361;refseq.end=122834028;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E361K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=73;refseq.start=122834028;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr3 122835810 . T G 24.36 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=149;Dels=0.00;HRun=2;HaplotypeScore=16.47;MQ=97.30;MQ0=0;QD=0.16;RankSumP=0.00000;SB=197.64;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.837A>C;refseq.codonCoord=279;refseq.end=122835810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P279P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-67;refseq.start=122835810;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 122835813 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.834T>C;refseq.codonCoord=278;refseq.end=122835813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A278A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-70;refseq.start=122835813;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr3 122835944 . T C 442.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.76;MQ0=0;OQ=8873.64;QD=41.47;RankSumP=1.00000;SB=-2594.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.703A>G;refseq.codonCoord=235;refseq.end=122835944;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=828;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T235A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=12;refseq.start=122835944;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 122844477 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=590;Dels=0.00;HRun=0;HaplotypeScore=7.65;MQ=98.85;MQ0=0;OQ=10882.98;QD=18.45;RankSumP=0.130127;SB=-4355.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.441C>T;refseq.codonCoord=147;refseq.end=122844477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_005335;refseq.name2=HCLS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H147H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-14;refseq.start=122844477;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr3 122892320 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.362566;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.8566C>T;refseq.codonCoord=2856;refseq.end=122892320;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8692;refseq.name=NM_004487;refseq.name2=GOLGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2856*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-114;refseq.start=122892320;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 1/0 chr3 122898300 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=25.12;MQ=98.23;MQ0=0;OQ=8411.83;QD=20.87;RankSumP=0.0882374;SB=-2865.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3745C>T;refseq.codonCoord=1249;refseq.end=122898300;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3871;refseq.name=NM_004487;refseq.name2=GOLGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1249S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=2167;refseq.start=122898300;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 122918311 . T C 124.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=9.33;MQ=98.87;MQ0=0;OQ=7591.15;QD=18.38;RankSumP=0.0436402;SB=-1932.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1236A>G;refseq.codonCoord=412;refseq.end=122918311;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_004487;refseq.name2=GOLGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q412Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-38;refseq.start=122918311;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr3 122918314 . C T 248.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=98.98;MQ0=0;OQ=7317.91;QD=18.62;RankSumP=0.439071;SB=-1750.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1233G>A;refseq.codonCoord=411;refseq.end=122918314;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_004487;refseq.name2=GOLGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E411E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-41;refseq.start=122918314;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr3 122983389 . C T 199.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=11.99;MQ=98.83;MQ0=0;OQ=3022.63;QD=18.89;RankSumP=0.357064;SB=-1183.72;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1301G>A;refseq.codingCoordStr_2=c.902G>A;refseq.codonCoord_1=434;refseq.codonCoord_2=301;refseq.end_1=122983389;refseq.end_2=122983389;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1117;refseq.name2_1=IQCB1;refseq.name2_2=IQCB1;refseq.name_1=NM_001023570;refseq.name_2=NM_001023571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C434Y;refseq.proteinCoordStr_2=p.C301Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=122983389;refseq.start_2=122983389;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr3 123008894 . G A 285.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=97.99;MQ0=0;OQ=14260.38;QD=44.15;RankSumP=1.00000;SB=-3889.49;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.574C>T;refseq.codingCoordStr_2=c.574C>T;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=123008894;refseq.end_2=123008894;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=789;refseq.mrnaCoord_2=789;refseq.name2_1=IQCB1;refseq.name2_2=IQCB1;refseq.name_1=NM_001023570;refseq.name_2=NM_001023571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L192L;refseq.proteinCoordStr_2=p.L192L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=123008894;refseq.start_2=123008894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr3 123194741 . A C 258.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=996.64;QD=39.87;RankSumP=1.00000;SB=-486.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1413T>G;refseq.codonCoord=471;refseq.end=123194741;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_175924;refseq.name2=ILDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L471L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-55;refseq.start=123194741;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 123195495 . G C 196.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=2883.42;QD=44.36;RankSumP=1.00000;SB=-928.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.659C>G;refseq.codonCoord=220;refseq.end=123195495;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_175924;refseq.name2=ILDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P220R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=13;refseq.start=123195495;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr3 123307887 . G A 252.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.95;MQ0=0;OQ=17208.78;QD=41.77;RankSumP=1.00000;SB=-5684.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.535G>A;refseq.codingCoordStr_2=c.553G>A;refseq.codonCoord_1=179;refseq.codonCoord_2=185;refseq.end_1=123307887;refseq.end_2=123307887;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=669;refseq.name2_1=CD86;refseq.name2_2=CD86;refseq.name_1=NM_006889;refseq.name_2=NM_175862;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V179I;refseq.proteinCoordStr_2=p.V185I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-151;refseq.spliceDist_2=-151;refseq.start_1=123307887;refseq.start_2=123307887;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr3 123485735 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=357;Dels=0.00;HRun=5;HaplotypeScore=7.90;MQ=98.59;MQ0=0;OQ=16122.43;QD=45.16;RankSumP=1.00000;SB=-7050.22;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2244G>C;refseq.codonCoord=748;refseq.end=123485735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2616;refseq.name=NM_000388;refseq.name2=CASR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P748P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=512;refseq.start=123485735;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chr3 123486447 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=96.83;MQ0=0;OQ=1377.17;QD=9.56;RankSumP=0.0676591;SB=-607.86;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2956G>T;refseq.codonCoord=986;refseq.end=123486447;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3328;refseq.name=NM_000388;refseq.name2=CASR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A986S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1224;refseq.start=123486447;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 123486478 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2987A>C;refseq.codonCoord=996;refseq.end=123486478;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3359;refseq.name=NM_000388;refseq.name2=CASR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N996T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1255;refseq.start=123486478;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr3 123486520 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3029A>C;refseq.codonCoord=1010;refseq.end=123486520;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3401;refseq.name=NM_000388;refseq.name2=CASR;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1010P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1297;refseq.start=123486520;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 123486522 . G C 288.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=5.44;MQ=96.50;MQ0=0;OQ=6211.93;QD=41.97;RankSumP=1.00000;SB=-2306.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3031G>C;refseq.codonCoord=1011;refseq.end=123486522;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3403;refseq.name=NM_000388;refseq.name2=CASR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1011Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1299;refseq.start=123486522;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr3 123543094 . C T 170.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.86;MQ0=0;OQ=7347.63;QD=17.71;RankSumP=0.0841484;SB=-2803.71;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.287C>T;refseq.codonCoord=96;refseq.end=123543094;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_005213;refseq.name2=CSTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T96M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=119;refseq.start=123543094;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr3 123585810 . G A 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=22;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=97.65;MQ0=0;OQ=71.53;QD=3.25;RankSumP=0.481734;SB=-19.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.8G>A;refseq.codonCoord=3;refseq.end=123585810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_014367;refseq.name2=FAM162A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-27;refseq.start=123585810;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/0 chr3 123668878 . C T 322.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=98.74;MQ0=0;OQ=8780.76;QD=42.22;RankSumP=1.00000;SB=-3391.53;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.218G>A;refseq.codonCoord_2=73;refseq.end_1=123668878;refseq.end_2=123668878;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.name2_1=KPNA1;refseq.name2_2=KPNA1;refseq.name_1=NR_026698;refseq.name_2=NM_002264;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S73N;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=123668878;refseq.start_2=123668878;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr3 123737845 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.2045C>G;refseq.codingCoordStr_2=c.1940C>G;refseq.codingCoordStr_3=c.1940C>G;refseq.codingCoordStr_4=c.1940C>G;refseq.codingCoordStr_5=c.1940C>G;refseq.codingCoordStr_6=c.2045C>G;refseq.codonCoord_1=682;refseq.codonCoord_2=647;refseq.codonCoord_3=647;refseq.codonCoord_4=647;refseq.codonCoord_5=647;refseq.codonCoord_6=682;refseq.end_1=123737845;refseq.end_2=123737845;refseq.end_3=123737845;refseq.end_4=123737845;refseq.end_5=123737845;refseq.end_6=123737845;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2190;refseq.mrnaCoord_2=2267;refseq.mrnaCoord_3=2266;refseq.mrnaCoord_4=2085;refseq.mrnaCoord_5=2266;refseq.mrnaCoord_6=2372;refseq.name2_1=PARP9;refseq.name2_2=PARP9;refseq.name2_3=PARP9;refseq.name2_4=PARP9;refseq.name2_5=PARP9;refseq.name2_6=PARP9;refseq.name_1=NM_001146102;refseq.name_2=NM_001146103;refseq.name_3=NM_001146104;refseq.name_4=NM_001146105;refseq.name_5=NM_001146106;refseq.name_6=NM_031458;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A682G;refseq.proteinCoordStr_2=p.A647G;refseq.proteinCoordStr_3=p.A647G;refseq.proteinCoordStr_4=p.A647G;refseq.proteinCoordStr_5=p.A647G;refseq.proteinCoordStr_6=p.A682G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.spliceDist_5=35;refseq.spliceDist_6=35;refseq.start_1=123737845;refseq.start_2=123737845;refseq.start_3=123737845;refseq.start_4=123737845;refseq.start_5=123737845;refseq.start_6=123737845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;set=FilteredInAll GT 0/1 chr3 123742296 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=672;Dels=0.00;HRun=0;HaplotypeScore=15.33;MQ=98.90;MQ0=0;OQ=14317.78;QD=21.31;RankSumP=0.349260;SB=-5379.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.1583A>G;refseq.codingCoordStr_2=c.1478A>G;refseq.codingCoordStr_3=c.1478A>G;refseq.codingCoordStr_4=c.1478A>G;refseq.codingCoordStr_5=c.1478A>G;refseq.codingCoordStr_6=c.1583A>G;refseq.codonCoord_1=528;refseq.codonCoord_2=493;refseq.codonCoord_3=493;refseq.codonCoord_4=493;refseq.codonCoord_5=493;refseq.codonCoord_6=528;refseq.end_1=123742296;refseq.end_2=123742296;refseq.end_3=123742296;refseq.end_4=123742296;refseq.end_5=123742296;refseq.end_6=123742296;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1728;refseq.mrnaCoord_2=1805;refseq.mrnaCoord_3=1804;refseq.mrnaCoord_4=1623;refseq.mrnaCoord_5=1804;refseq.mrnaCoord_6=1910;refseq.name2_1=PARP9;refseq.name2_2=PARP9;refseq.name2_3=PARP9;refseq.name2_4=PARP9;refseq.name2_5=PARP9;refseq.name2_6=PARP9;refseq.name_1=NM_001146102;refseq.name_2=NM_001146103;refseq.name_3=NM_001146104;refseq.name_4=NM_001146105;refseq.name_5=NM_001146106;refseq.name_6=NM_031458;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Y528C;refseq.proteinCoordStr_2=p.Y493C;refseq.proteinCoordStr_3=p.Y493C;refseq.proteinCoordStr_4=p.Y493C;refseq.proteinCoordStr_5=p.Y493C;refseq.proteinCoordStr_6=p.Y528C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.referenceCodon_6=TAT;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.spliceDist_4=94;refseq.spliceDist_5=94;refseq.spliceDist_6=94;refseq.start_1=123742296;refseq.start_2=123742296;refseq.start_3=123742296;refseq.start_4=123742296;refseq.start_5=123742296;refseq.start_6=123742296;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantAA_6=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;refseq.variantCodon_5=TGT;refseq.variantCodon_6=TGT;set=Intersection GT 1/0 chr3 123742330 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=629;Dels=0.00;HRun=0;HaplotypeScore=16.83;MQ=98.58;MQ0=0;OQ=12769.81;QD=20.30;RankSumP=0.372475;SB=-4653.89;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.1549A>G;refseq.codingCoordStr_2=c.1444A>G;refseq.codingCoordStr_3=c.1444A>G;refseq.codingCoordStr_4=c.1444A>G;refseq.codingCoordStr_5=c.1444A>G;refseq.codingCoordStr_6=c.1549A>G;refseq.codonCoord_1=517;refseq.codonCoord_2=482;refseq.codonCoord_3=482;refseq.codonCoord_4=482;refseq.codonCoord_5=482;refseq.codonCoord_6=517;refseq.end_1=123742330;refseq.end_2=123742330;refseq.end_3=123742330;refseq.end_4=123742330;refseq.end_5=123742330;refseq.end_6=123742330;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1694;refseq.mrnaCoord_2=1771;refseq.mrnaCoord_3=1770;refseq.mrnaCoord_4=1589;refseq.mrnaCoord_5=1770;refseq.mrnaCoord_6=1876;refseq.name2_1=PARP9;refseq.name2_2=PARP9;refseq.name2_3=PARP9;refseq.name2_4=PARP9;refseq.name2_5=PARP9;refseq.name2_6=PARP9;refseq.name_1=NM_001146102;refseq.name_2=NM_001146103;refseq.name_3=NM_001146104;refseq.name_4=NM_001146105;refseq.name_5=NM_001146106;refseq.name_6=NM_031458;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I517V;refseq.proteinCoordStr_2=p.I482V;refseq.proteinCoordStr_3=p.I482V;refseq.proteinCoordStr_4=p.I482V;refseq.proteinCoordStr_5=p.I482V;refseq.proteinCoordStr_6=p.I517V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.referenceCodon_6=ATC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.spliceDist_5=60;refseq.spliceDist_6=60;refseq.start_1=123742330;refseq.start_2=123742330;refseq.start_3=123742330;refseq.start_4=123742330;refseq.start_5=123742330;refseq.start_6=123742330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;set=Intersection GT 1/0 chr3 123770900 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=1;HaplotypeScore=21.82;MQ=98.83;MQ0=0;OQ=10714.49;QD=21.96;RankSumP=0.118950;SB=-3095.34;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1274G>A;refseq.codonCoord=425;refseq.end=123770900;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_138287;refseq.name2=DTX3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R425K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-662;refseq.start=123770900;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr3 123771177 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1551A>G;refseq.codonCoord=517;refseq.end=123771177;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_138287;refseq.name2=DTX3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G517G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-385;refseq.start=123771177;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 123828560 . C T 281.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=8.88;MQ=98.90;MQ0=0;OQ=2709.81;QD=16.13;RankSumP=0.253189;SB=-964.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1428C>T;refseq.codingCoordStr_2=c.726C>T;refseq.codonCoord_1=476;refseq.codonCoord_2=242;refseq.end_1=123828560;refseq.end_2=123828560;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1494;refseq.mrnaCoord_2=758;refseq.name2_1=PARP15;refseq.name2_2=PARP15;refseq.name_1=NM_001113523;refseq.name_2=NM_152615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S476S;refseq.proteinCoordStr_2=p.S242S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=123828560;refseq.start_2=123828560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr3 123836727 . A G 447.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.38;MQ0=0;OQ=5879.89;QD=40.83;RankSumP=1.00000;SB=-1780.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1743A>G;refseq.codingCoordStr_2=c.1041A>G;refseq.codonCoord_1=581;refseq.codonCoord_2=347;refseq.end_1=123836727;refseq.end_2=123836727;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1809;refseq.mrnaCoord_2=1073;refseq.name2_1=PARP15;refseq.name2_2=PARP15;refseq.name_1=NM_001113523;refseq.name_2=NM_152615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K581K;refseq.proteinCoordStr_2=p.K347K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=123836727;refseq.start_2=123836727;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr3 123837406 . C T 148.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.95;MQ0=0;OQ=15502.20;QD=41.01;RankSumP=1.00000;SB=-7336.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1806C>T;refseq.codingCoordStr_2=c.1104C>T;refseq.codonCoord_1=602;refseq.codonCoord_2=368;refseq.end_1=123837406;refseq.end_2=123837406;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1872;refseq.mrnaCoord_2=1136;refseq.name2_1=PARP15;refseq.name2_2=PARP15;refseq.name_1=NM_001113523;refseq.name_2=NM_152615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D602D;refseq.proteinCoordStr_2=p.D368D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=123837406;refseq.start_2=123837406;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr3 124028376 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.477T>G;refseq.codonCoord=159;refseq.end=124028376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_032839;refseq.name2=DIRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=40;refseq.start=124028376;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 124057859 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.958A>G;refseq.codonCoord=320;refseq.end=124057859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_032839;refseq.name2=DIRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I320V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=16;refseq.start=124057859;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr3 124113036 . T C 221.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=6.52;MQ=98.28;MQ0=0;OQ=3354.49;QD=38.56;RankSumP=1.00000;SB=-1006.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3083A>G;refseq.codonCoord=1028;refseq.end=124113036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3387;refseq.name=NM_001031702;refseq.name2=SEMA5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1028G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=124113036;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 124114586 . A T 12.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.63;MQ0=0;OQ=74.05;QD=24.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2519T>A;refseq.codonCoord=840;refseq.end=124114586;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2823;refseq.name=NM_001031702;refseq.name2=SEMA5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V840D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=13;refseq.start=124114586;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/1 chr3 124125280 . G A 342.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=97.55;MQ0=0;OQ=4594.87;QD=41.40;RankSumP=1.00000;SB=-2198.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1146C>T;refseq.codonCoord=382;refseq.end=124125280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1450;refseq.name=NM_001031702;refseq.name2=SEMA5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I382I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=124125280;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 124347126 . G A 200.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=9.46;MQ=98.52;MQ0=0;OQ=4239.20;QD=19.45;RankSumP=0.119998;SB=-963.36;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.978G>A;refseq.codonCoord_2=326;refseq.end_1=124347126;refseq.end_2=124347126;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=997;refseq.mrnaCoord_2=1134;refseq.name2_1=PDIA5;refseq.name2_2=PDIA5;refseq.name_1=NR_028444;refseq.name_2=NM_006810;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A326A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=124347126;refseq.start_2=124347126;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr3 124362881 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1701.48;QD=12.33;RankSumP=0.0968294;SB=-269.20;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1368T>C;refseq.codonCoord_2=456;refseq.end_1=124362881;refseq.end_2=124362881;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1368;refseq.mrnaCoord_2=1524;refseq.name2_1=PDIA5;refseq.name2_2=PDIA5;refseq.name_1=NR_028444;refseq.name_2=NM_006810;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C456C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=124362881;refseq.start_2=124362881;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr3 124473089 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.754C>G;refseq.codonCoord=252;refseq.end=124473089;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_012430;refseq.name2=SEC22A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R252G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=31;refseq.start=124473089;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 124649939 . G A 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.75;MQ0=0;OQ=195.61;QD=19.56;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=124649939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=144;refseq.name=NM_183357;refseq.name2=ADCY5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G48G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=144;refseq.start=124649939;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/1 chr3 124894279 . G A 396.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=98.34;MQ0=0;OQ=3087.17;QD=38.11;RankSumP=1.00000;SB=-906.63;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.3558C>T;refseq.codingCoordStr_2=c.3351C>T;refseq.codingCoordStr_3=c.3558C>T;refseq.codingCoordStr_4=c.3351C>T;refseq.codonCoord_1=1186;refseq.codonCoord_2=1117;refseq.codonCoord_3=1186;refseq.codonCoord_4=1117;refseq.end_1=124894279;refseq.end_2=124894279;refseq.end_3=124894279;refseq.end_4=124894279;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3840;refseq.mrnaCoord_2=3633;refseq.mrnaCoord_3=3840;refseq.mrnaCoord_4=3633;refseq.name2_1=MYLK;refseq.name2_2=MYLK;refseq.name2_3=MYLK;refseq.name2_4=MYLK;refseq.name_1=NM_053025;refseq.name_2=NM_053026;refseq.name_3=NM_053027;refseq.name_4=NM_053028;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1186T;refseq.proteinCoordStr_2=p.T1117T;refseq.proteinCoordStr_3=p.T1186T;refseq.proteinCoordStr_4=p.T1117T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.start_1=124894279;refseq.start_2=124894279;refseq.start_3=124894279;refseq.start_4=124894279;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chr3 124901603 . G A 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=9.02;MQ=96.41;MQ0=3;OQ=20313.12;QD=40.87;RankSumP=1.00000;SB=-9385.93;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.3402C>T;refseq.codingCoordStr_2=c.3195C>T;refseq.codingCoordStr_3=c.3402C>T;refseq.codingCoordStr_4=c.3195C>T;refseq.codonCoord_1=1134;refseq.codonCoord_2=1065;refseq.codonCoord_3=1134;refseq.codonCoord_4=1065;refseq.end_1=124901603;refseq.end_2=124901603;refseq.end_3=124901603;refseq.end_4=124901603;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3684;refseq.mrnaCoord_2=3477;refseq.mrnaCoord_3=3684;refseq.mrnaCoord_4=3477;refseq.name2_1=MYLK;refseq.name2_2=MYLK;refseq.name2_3=MYLK;refseq.name2_4=MYLK;refseq.name_1=NM_053025;refseq.name_2=NM_053026;refseq.name_3=NM_053027;refseq.name_4=NM_053028;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N1134N;refseq.proteinCoordStr_2=p.N1065N;refseq.proteinCoordStr_3=p.N1134N;refseq.proteinCoordStr_4=p.N1065N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.start_1=124901603;refseq.start_2=124901603;refseq.start_3=124901603;refseq.start_4=124901603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=Intersection GT 1/1 chr3 124934463 . G C 83.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=13443.24;QD=47.00;RankSumP=1.00000;SB=-6327.12;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_3=c.1486C>G;refseq.codingCoordStr_4=c.1486C>G;refseq.codonCoord_3=496;refseq.codonCoord_4=496;refseq.end_1=124935213;refseq.end_2=124935213;refseq.end_3=124934463;refseq.end_4=124934463;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1768;refseq.mrnaCoord_4=1768;refseq.name2_1=MYLK;refseq.name2_2=MYLK;refseq.name2_3=MYLK;refseq.name2_4=MYLK;refseq.name_1=NM_053026;refseq.name_2=NM_053028;refseq.name_3=NM_053025;refseq.name_4=NM_053027;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.L496V;refseq.proteinCoordStr_4=p.L496V;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.start_1=124927626;refseq.start_2=124927626;refseq.start_3=124934463;refseq.start_4=124934463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 1/1 chr3 124935528 . G A 381.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.07;MQ0=0;OQ=2058.89;QD=38.13;RankSumP=1.00000;SB=-773.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1005C>T;refseq.codingCoordStr_2=c.1005C>T;refseq.codingCoordStr_3=c.1005C>T;refseq.codingCoordStr_4=c.1005C>T;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=335;refseq.codonCoord_4=335;refseq.end_1=124935528;refseq.end_2=124935528;refseq.end_3=124935528;refseq.end_4=124935528;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1287;refseq.mrnaCoord_2=1287;refseq.mrnaCoord_3=1287;refseq.mrnaCoord_4=1287;refseq.name2_1=MYLK;refseq.name2_2=MYLK;refseq.name2_3=MYLK;refseq.name2_4=MYLK;refseq.name_1=NM_053025;refseq.name_2=NM_053026;refseq.name_3=NM_053027;refseq.name_4=NM_053028;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T335T;refseq.proteinCoordStr_2=p.T335T;refseq.proteinCoordStr_3=p.T335T;refseq.proteinCoordStr_4=p.T335T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=232;refseq.spliceDist_2=232;refseq.spliceDist_3=232;refseq.spliceDist_4=232;refseq.start_1=124935528;refseq.start_2=124935528;refseq.start_3=124935528;refseq.start_4=124935528;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chr3 124940583 . G A 335.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.61;MQ0=0;OQ=6403.82;QD=42.13;RankSumP=1.00000;SB=-2857.13;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.439C>T;refseq.codingCoordStr_2=c.439C>T;refseq.codingCoordStr_3=c.439C>T;refseq.codingCoordStr_4=c.439C>T;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.codonCoord_3=147;refseq.codonCoord_4=147;refseq.end_1=124940583;refseq.end_2=124940583;refseq.end_3=124940583;refseq.end_4=124940583;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=721;refseq.mrnaCoord_3=721;refseq.mrnaCoord_4=721;refseq.name2_1=MYLK;refseq.name2_2=MYLK;refseq.name2_3=MYLK;refseq.name2_4=MYLK;refseq.name_1=NM_053025;refseq.name_2=NM_053026;refseq.name_3=NM_053027;refseq.name_4=NM_053028;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P147S;refseq.proteinCoordStr_2=p.P147S;refseq.proteinCoordStr_3=p.P147S;refseq.proteinCoordStr_4=p.P147S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.start_1=124940583;refseq.start_2=124940583;refseq.start_3=124940583;refseq.start_4=124940583;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 1/1 chr3 125178445 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.706502;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.190C>T;refseq.codonCoord=64;refseq.end=125178445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_017578;refseq.name2=ROPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R64W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-45;refseq.start=125178445;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 1/0 chr3 125470729 . T C 305.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1532.69;QD=35.64;RankSumP=1.00000;SB=-494.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.900T>C;refseq.codingCoordStr_2=c.900T>C;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=125470729;refseq.end_2=125470729;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1027;refseq.mrnaCoord_2=1027;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_003947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H300H;refseq.proteinCoordStr_2=p.H300H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=125470729;refseq.start_2=125470729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr3 125527557 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1127C>T;refseq.codingCoordStr_2=c.1127C>T;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.end_1=125527557;refseq.end_2=125527557;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1254;refseq.mrnaCoord_2=1254;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_003947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S376F;refseq.proteinCoordStr_2=p.S376F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=125527557;refseq.start_2=125527557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr3 125527639 . C T 89.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.80;MQ0=0;OQ=4837.16;QD=41.34;RankSumP=1.00000;SB=-1745.21;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1209C>T;refseq.codingCoordStr_2=c.1209C>T;refseq.codonCoord_1=403;refseq.codonCoord_2=403;refseq.end_1=125527639;refseq.end_2=125527639;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1336;refseq.mrnaCoord_2=1336;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_003947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F403F;refseq.proteinCoordStr_2=p.F403F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=125527639;refseq.start_2=125527639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr3 125834006 . G A 332.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=98.84;MQ0=0;OQ=8891.34;QD=20.53;RankSumP=0.302553;SB=-2928.04;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.5226G>A;refseq.codingCoordStr_2=c.135G>A;refseq.codonCoord_1=1742;refseq.codonCoord_2=45;refseq.end_1=125834006;refseq.end_2=125834006;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5353;refseq.mrnaCoord_2=298;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1742V;refseq.proteinCoordStr_2=p.V45V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=125834006;refseq.start_2=125834006;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr3 125834114 . T C 200.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.08;MQ0=0;OQ=1640.74;QD=14.78;RankSumP=0.277817;SB=-417.64;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.5334T>C;refseq.codingCoordStr_2=c.243T>C;refseq.codonCoord_1=1778;refseq.codonCoord_2=81;refseq.end_1=125834114;refseq.end_2=125834114;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5461;refseq.mrnaCoord_2=406;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1778L;refseq.proteinCoordStr_2=p.L81L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-127;refseq.spliceDist_2=-127;refseq.start_1=125834114;refseq.start_2=125834114;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr3 125852434 . C T 275.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=97.56;MQ0=0;OQ=2277.04;QD=16.50;RankSumP=0.177354;SB=-819.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.5751C>T;refseq.codingCoordStr_2=c.660C>T;refseq.codonCoord_1=1917;refseq.codonCoord_2=220;refseq.end_1=125852434;refseq.end_2=125852434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5878;refseq.mrnaCoord_2=823;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1917N;refseq.proteinCoordStr_2=p.N220N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=125852434;refseq.start_2=125852434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr3 125862507 . T C 253.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=477;Dels=0.00;HRun=0;HaplotypeScore=17.23;MQ=98.52;MQ0=0;OQ=9047.91;QD=18.97;RankSumP=0.0436299;SB=-3037.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.6261T>C;refseq.codingCoordStr_2=c.1170T>C;refseq.codonCoord_1=2087;refseq.codonCoord_2=390;refseq.end_1=125862507;refseq.end_2=125862507;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6388;refseq.mrnaCoord_2=1333;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I2087I;refseq.proteinCoordStr_2=p.I390I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=125862507;refseq.start_2=125862507;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr3 125901569 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=789.78;QD=10.26;RankSumP=0.343973;SB=-291.91;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.7995T>C;refseq.codingCoordStr_2=c.2904T>C;refseq.codonCoord_1=2665;refseq.codonCoord_2=968;refseq.end_1=125901569;refseq.end_2=125901569;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8122;refseq.mrnaCoord_2=3067;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y2665Y;refseq.proteinCoordStr_2=p.Y968Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=125901569;refseq.start_2=125901569;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr3 125914531 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.8135T>G;refseq.codingCoordStr_2=c.3044T>G;refseq.codonCoord_1=2712;refseq.codonCoord_2=1015;refseq.end_1=125914531;refseq.end_2=125914531;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8262;refseq.mrnaCoord_2=3207;refseq.name2_1=KALRN;refseq.name2_2=KALRN;refseq.name_1=NM_001024660;refseq.name_2=NM_007064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V2712G;refseq.proteinCoordStr_2=p.V1015G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=125914531;refseq.start_2=125914531;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 125970601 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1966A>C;refseq.codonCoord=656;refseq.end=125970601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2263;refseq.name=NM_002213;refseq.name2=ITGB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T656P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=50;refseq.start=125970601;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 125998186 . C T 130.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.46;MQ0=0;OQ=940.22;QD=15.16;RankSumP=0.255795;SB=-480.96;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1432G>A;refseq.codonCoord=478;refseq.end=125998186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1729;refseq.name=NM_002213;refseq.name2=ITGB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G478R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=169;refseq.start=125998186;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr3 126109714 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=16.26;MQ=98.27;MQ0=0;OQ=5092.93;QD=18.93;RankSumP=0.301642;SB=-1618.22;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1506A>C;refseq.codonCoord=502;refseq.end=126109714;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_033049;refseq.name2=MUC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R502S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-31;refseq.start=126109714;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr3 126129395 . A G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.322245;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.185T>C;refseq.codonCoord=62;refseq.end=126129395;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_033049;refseq.name2=MUC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.F62S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=133;refseq.start=126129395;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr3 126129399 . G A 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.555073;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.181C>T;refseq.codonCoord=61;refseq.end=126129399;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_033049;refseq.name2=MUC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=129;refseq.start=126129399;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr3 126129400 . T A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0691442;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.180A>T;refseq.codonCoord=60;refseq.end=126129400;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_033049;refseq.name2=MUC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=128;refseq.start=126129400;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr3 126285571 . A G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=4037.20;QD=40.78;RankSumP=1.00000;SB=-1641.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1998T>C;refseq.codonCoord=666;refseq.end=126285571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_024628;refseq.name2=SLC12A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P666P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=16;refseq.start=126285571;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr3 126285578 . C T 430.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=3816.09;QD=41.48;RankSumP=1.00000;SB=-1464.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1991G>A;refseq.codonCoord=664;refseq.end=126285578;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2102;refseq.name=NM_024628;refseq.name2=SLC12A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R664Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=126285578;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr3 126320374 . T C 302.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.70;MQ0=0;OQ=7233.10;QD=36.90;RankSumP=1.00000;SB=-2831.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.841A>G;refseq.codonCoord=281;refseq.end=126320374;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=952;refseq.name=NM_024628;refseq.name2=SLC12A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I281V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=17;refseq.start=126320374;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr3 126322160 . G A 442.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.47;MQ0=0;OQ=6495.68;QD=40.35;RankSumP=1.00000;SB=-2498.20;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.797C>T;refseq.codonCoord=266;refseq.end=126322160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_024628;refseq.name2=SLC12A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P266L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-28;refseq.start=126322160;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 126434511 . C T 247.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.90;MQ0=0;OQ=18694.40;QD=42.49;RankSumP=1.00000;SB=-7660.90;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1749G>A;refseq.codonCoord=583;refseq.end=126434511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2235;refseq.name=NM_021964;refseq.name2=ZNF148;refseq.positionType=CDS;refseq.proteinCoordStr=p.P583P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=963;refseq.start=126434511;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr3 126435054 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1206A>C;refseq.codonCoord=402;refseq.end=126435054;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1692;refseq.name=NM_021964;refseq.name2=ZNF148;refseq.positionType=CDS;refseq.proteinCoordStr=p.K402N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=420;refseq.start=126435054;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr3 126991988 . G C 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.273810;SecondBestBaseQ=34;refseq.chr=chr3;refseq.end=126991988;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=98;refseq.name=NR_031687;refseq.name2=MIR548I1;refseq.positionType=non_coding_exon;refseq.spliceDist=-51;refseq.start=126991988;refseq.transcriptStrand=-;set=soap GT 0/1 chr3 126992005 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.215909;SecondBestBaseQ=34;refseq.chr=chr3;refseq.end=126992005;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=81;refseq.name=NR_031687;refseq.name2=MIR548I1;refseq.positionType=non_coding_exon;refseq.spliceDist=-68;refseq.start=126992005;refseq.transcriptStrand=-;set=soap GT 0/1 chr3 127134199 . A G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0370276;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.144T>C;refseq.codonCoord=48;refseq.end=127134199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_001015050;refseq.name2=ALG1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L48L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-17;refseq.start=127134199;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr3 127134229 . A C 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.272911;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.114T>G;refseq.codonCoord=38;refseq.end=127134229;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_001015050;refseq.name2=ALG1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L38L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=14;refseq.start=127134229;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr3 127177169 . T C 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.352885;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.190T>C;refseq.codonCoord=64;refseq.end=127177169;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_001012337;refseq.name2=ROPN1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W64R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-45;refseq.start=127177169;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr3 127257918 . T C 284.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=98.54;MQ0=0;OQ=5902.63;QD=36.44;RankSumP=1.00000;SB=-2254.46;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_5=c.168A>G;refseq.codonCoord_5=56;refseq.end_1=127269469;refseq.end_2=127269469;refseq.end_3=127269469;refseq.end_4=127302951;refseq.end_5=127257918;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=391;refseq.name2_1=SLC41A3;refseq.name2_2=SLC41A3;refseq.name2_3=SLC41A3;refseq.name2_4=SLC41A3;refseq.name2_5=SLC41A3;refseq.name_1=NM_001008486;refseq.name_2=NM_001008485;refseq.name_3=NM_017836;refseq.name_4=NM_001164475;refseq.name_5=NM_001008487;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.T56T;refseq.referenceAA_5=Thr;refseq.referenceCodon_5=ACA;refseq.spliceDist_5=-28;refseq.start_1=127235222;refseq.start_2=127252594;refseq.start_3=127252594;refseq.start_4=127252594;refseq.start_5=127257918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_5=Thr;refseq.variantCodon_5=ACG;set=Intersection GT 1/1 chr3 127269569 . T C 394.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.83;MQ0=0;OQ=5042.54;QD=35.76;RankSumP=1.00000;SB=-2110.53;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.184A>G;refseq.codingCoordStr_3=c.184A>G;refseq.codingCoordStr_4=c.184A>G;refseq.codonCoord_2=62;refseq.codonCoord_3=62;refseq.codonCoord_4=62;refseq.end_1=127302951;refseq.end_2=127269569;refseq.end_3=127269569;refseq.end_4=127269569;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=410;refseq.mrnaCoord_3=410;refseq.mrnaCoord_4=410;refseq.name2_1=SLC41A3;refseq.name2_2=SLC41A3;refseq.name2_3=SLC41A3;refseq.name2_4=SLC41A3;refseq.name_1=NM_001164475;refseq.name_2=NM_001008485;refseq.name_3=NM_001008486;refseq.name_4=NM_017836;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T62A;refseq.proteinCoordStr_3=p.T62A;refseq.proteinCoordStr_4=p.T62A;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.spliceDist_4=-90;refseq.start_1=127252594;refseq.start_2=127269569;refseq.start_3=127269569;refseq.start_4=127269569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr3 127663510 . G A 173.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.83;MQ0=0;OQ=4041.31;QD=21.50;RankSumP=0.0746649;SB=-1252.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1685C>T;refseq.codingCoordStr_2=c.1685C>T;refseq.codonCoord_1=562;refseq.codonCoord_2=562;refseq.end_1=127663510;refseq.end_2=127663510;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1739;refseq.mrnaCoord_2=1739;refseq.name2_1=ZXDC;refseq.name2_2=ZXDC;refseq.name_1=NM_001040653;refseq.name_2=NM_025112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P562L;refseq.proteinCoordStr_2=p.P562L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=244;refseq.spliceDist_2=244;refseq.start_1=127663510;refseq.start_2=127663510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr3 127663641 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1554A>C;refseq.codingCoordStr_2=c.1554A>C;refseq.codonCoord_1=518;refseq.codonCoord_2=518;refseq.end_1=127663641;refseq.end_2=127663641;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1608;refseq.name2_1=ZXDC;refseq.name2_2=ZXDC;refseq.name_1=NM_001040653;refseq.name_2=NM_025112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T518T;refseq.proteinCoordStr_2=p.T518T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=127663641;refseq.start_2=127663641;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr3 127676766 . T C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.61;MQ0=0;OQ=139.79;QD=7.36;RankSumP=0.500000;SB=-0.97;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.633A>G;refseq.codingCoordStr_2=c.633A>G;refseq.codonCoord_1=211;refseq.codonCoord_2=211;refseq.end_1=127676766;refseq.end_2=127676766;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=687;refseq.mrnaCoord_2=687;refseq.name2_1=ZXDC;refseq.name2_2=ZXDC;refseq.name_1=NM_001040653;refseq.name_2=NM_025112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P211P;refseq.proteinCoordStr_2=p.P211P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-275;refseq.spliceDist_2=-275;refseq.start_1=127676766;refseq.start_2=127676766;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr3 127677047 . G C 50.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=62.85;QD=31.43;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.352C>G;refseq.codingCoordStr_2=c.352C>G;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.end_1=127677047;refseq.end_2=127677047;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.name2_1=ZXDC;refseq.name2_2=ZXDC;refseq.name_1=NM_001040653;refseq.name_2=NM_025112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P118A;refseq.proteinCoordStr_2=p.P118A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=406;refseq.spliceDist_2=406;refseq.start_1=127677047;refseq.start_2=127677047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/1 chr3 127684947 . G A 308.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=98.38;MQ0=0;OQ=4665.72;QD=17.03;RankSumP=0.390876;SB=-1893.65;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2025C>T;refseq.codingCoordStr_2=c.1845C>T;refseq.codonCoord_1=675;refseq.codonCoord_2=615;refseq.end_1=127684947;refseq.end_2=127684947;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2079;refseq.mrnaCoord_2=1899;refseq.name2_1=UROC1;refseq.name2_2=UROC1;refseq.name_1=NM_001165974;refseq.name_2=NM_144639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A675A;refseq.proteinCoordStr_2=p.A615A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=127684947;refseq.start_2=127684947;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr3 127697569 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1689+2;refseq.codingCoordStr_2=c.1509+2;refseq.end_1=127697569;refseq.end_2=127697569;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=UROC1;refseq.name2_2=UROC1;refseq.name_1=NM_001165974;refseq.name_2=NM_144639;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=127697569;refseq.start_2=127697569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr3 127702317 . G A 112.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.45;MQ0=0;OQ=1308.18;QD=15.95;RankSumP=0.421435;SB=-447.42;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1236C>T;refseq.codingCoordStr_2=c.1056C>T;refseq.codonCoord_1=412;refseq.codonCoord_2=352;refseq.end_1=127702317;refseq.end_2=127702317;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1290;refseq.mrnaCoord_2=1110;refseq.name2_1=UROC1;refseq.name2_2=UROC1;refseq.name_1=NM_001165974;refseq.name_2=NM_144639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G412G;refseq.proteinCoordStr_2=p.G352G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.start_1=127702317;refseq.start_2=127702317;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr3 127743298 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=93.12;MQ0=0;OQ=240.06;QD=17.15;RankSumP=0.694497;SB=-40.38;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.213G>T;refseq.codonCoord=71;refseq.end=127743298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_152889;refseq.name2=CHST13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R71R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=33;refseq.start=127743298;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr3 127743892 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=97.88;MQ0=0;OQ=470.52;QD=14.26;RankSumP=0.646537;SB=-83.39;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.807G>A;refseq.codonCoord=269;refseq.end=127743892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_152889;refseq.name2=CHST13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T269T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=627;refseq.start=127743892;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr3 127743897 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.76;MQ0=0;OQ=476.09;QD=15.87;RankSumP=0.00591322;SB=-77.09;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.812C>T;refseq.codonCoord=271;refseq.end=127743897;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=812;refseq.name=NM_152889;refseq.name2=CHST13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A271V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=632;refseq.start=127743897;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 0/1 chr3 127744035 . G A 158.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=96.95;MQ0=0;OQ=756.32;QD=21.01;RankSumP=0.551661;SB=-193.70;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.950G>A;refseq.codonCoord=317;refseq.end=127744035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_152889;refseq.name2=CHST13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R317Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=770;refseq.start=127744035;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr3 127751608 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=5.79;MQ=97.87;MQ0=0;OQ=809.84;QD=14.21;RankSumP=0.193866;SB=-96.89;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.219C>T;refseq.codonCoord=73;refseq.end=127751608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_152533;refseq.name2=C3orf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.L73L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=127751608;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr3 127773988 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=113;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.46;MQ0=0;OQ=1511.03;QD=13.37;RankSumP=0.227325;SB=-749.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.89G>T;refseq.codonCoord=30;refseq.end=127773988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_001039783;refseq.name2=TXNRD3IT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S30I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=188;refseq.start=127773988;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr3 127934627 . G T 242.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=98.93;MQ0=0;OQ=4859.75;QD=17.36;RankSumP=0.157790;SB=-1882.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.283G>T;refseq.codonCoord=95;refseq.end=127934627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_032343;refseq.name2=CHCHD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A95S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=17;refseq.start=127934627;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr3 128191143 . T C 132.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=4.42;MQ=98.08;MQ0=0;OQ=5378.57;QD=34.26;RankSumP=1.00000;SB=-2334.25;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1017T>C;refseq.codonCoord=339;refseq.end=128191143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_032242;refseq.name2=PLXNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T339T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-178;refseq.start=128191143;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 128209395 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=23.89;MQ=97.73;MQ0=0;OQ=1713.40;QD=6.42;RankSumP=0.0119569;SB=-737.87;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2061A>G;refseq.codonCoord=687;refseq.end=128209395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2061;refseq.name=NM_032242;refseq.name2=PLXNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T687T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-52;refseq.start=128209395;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr3 128213563 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=101;Dels=0.00;HRun=0;HaplotypeScore=32.16;MQ=97.01;MQ0=0;OQ=661.05;QD=6.55;RankSumP=0.469871;SB=-158.65;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2185G>A;refseq.codonCoord=729;refseq.end=128213563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2185;refseq.name=NM_032242;refseq.name2=PLXNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A729T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=73;refseq.start=128213563;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/0 chr3 128215743 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.59;MQ0=0;OQ=299.94;QD=12.50;RankSumP=0.500000;SB=-132.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2439C>T;refseq.codonCoord=813;refseq.end=128215743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2439;refseq.name=NM_032242;refseq.name2=PLXNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R813R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=29;refseq.start=128215743;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr3 128223798 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=98.39;MQ0=0;OQ=1583.85;QD=20.84;RankSumP=0.295399;SB=-455.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4219G>A;refseq.codonCoord=1407;refseq.end=128223798;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4219;refseq.name=NM_032242;refseq.name2=PLXNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1407M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-77;refseq.start=128223798;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr3 128806520 . C T 232.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=716.92;QD=37.73;RankSumP=1.00000;SB=-313.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.504C>T;refseq.codonCoord=168;refseq.end=128806520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_004526;refseq.name2=MCM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I168I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=92;refseq.start=128806520;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 128873047 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=226;Dels=0.00;HRun=2;HaplotypeScore=5.41;MQ=98.56;MQ0=0;OQ=4871.08;QD=21.55;RankSumP=0.197774;SB=-1691.19;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1506C>T;refseq.codonCoord=502;refseq.end=128873047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_015720;refseq.name2=PODXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F502F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=81;refseq.start=128873047;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr3 128881645 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=103;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=99.00;MQ0=0;OQ=1625.79;QD=15.78;RankSumP=0.238911;SB=-154.59;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_3=c.731G>A;refseq.codingCoordStr_4=c.1157G>A;refseq.codingCoordStr_5=c.1082G>A;refseq.codonCoord_3=244;refseq.codonCoord_4=386;refseq.codonCoord_5=361;refseq.end_1=128881645;refseq.end_2=128881645;refseq.end_3=128881645;refseq.end_4=128881645;refseq.end_5=128881645;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1256;refseq.mrnaCoord_4=1245;refseq.mrnaCoord_5=1210;refseq.name2_1=ABTB1;refseq.name2_2=ABTB1;refseq.name2_3=ABTB1;refseq.name2_4=ABTB1;refseq.name2_5=ABTB1;refseq.name_1=NR_033428;refseq.name_2=NR_033429;refseq.name_3=NM_032548;refseq.name_4=NM_172027;refseq.name_5=NM_172028;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.R244H;refseq.proteinCoordStr_4=p.R386H;refseq.proteinCoordStr_5=p.R361H;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.spliceDist_5=-74;refseq.start_1=128881645;refseq.start_2=128881645;refseq.start_3=128881645;refseq.start_4=128881645;refseq.start_5=128881645;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=Intersection GT 1/0 chr3 129355159 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.27;MQ0=0;OQ=575.25;QD=10.85;RankSumP=0.122724;SB=-164.64;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.119C>A;refseq.codonCoord=40;refseq.end=129355159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_021937;refseq.name2=EEFSEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P40Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=157;refseq.start=129355159;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr3 129355286 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=6;HRun=2;RankSumP=0.312500;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.246C>G;refseq.codonCoord=82;refseq.end=129355286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_021937;refseq.name2=EEFSEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G82G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-71;refseq.start=129355286;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 129466185 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=724;Dels=0.00;HRun=3;HaplotypeScore=18.00;MQ=98.78;MQ0=0;OQ=29170.30;QD=40.29;RankSumP=1.00000;SB=-14482.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.657T>C;refseq.codonCoord=219;refseq.end=129466185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_021937;refseq.name2=EEFSEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D219D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=36;refseq.start=129466185;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/1 chr3 129664467 . A G 155.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=97.47;MQ0=0;OQ=1913.83;QD=13.48;RankSumP=0.133841;SB=-483.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.312T>C;refseq.codonCoord=104;refseq.end=129664467;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1973;refseq.name=NM_153330;refseq.name2=DNAJB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.F104F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-496;refseq.start=129664467;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr3 129664764 . G A 191.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=9.25;MQ=98.81;MQ0=0;OQ=2506.27;QD=14.32;RankSumP=0.0362618;SB=-657.25;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=129664764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_153330;refseq.name2=DNAJB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y5Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-793;refseq.start=129664764;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr3 129688550 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=306.27;QD=13.92;RankSumP=0.529482;SB=-6.99;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.15C>G;refseq.codingCoordStr_2=c.15C>G;refseq.codingCoordStr_3=c.15C>G;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.codonCoord_3=5;refseq.end_1=129688550;refseq.end_2=129688550;refseq.end_3=129688550;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=450;refseq.mrnaCoord_2=271;refseq.mrnaCoord_3=349;refseq.name2_1=GATA2;refseq.name2_2=GATA2;refseq.name2_3=GATA2;refseq.name_1=NM_001145661;refseq.name_2=NM_001145662;refseq.name_3=NM_032638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P5P;refseq.proteinCoordStr_2=p.P5P;refseq.proteinCoordStr_3=p.P5P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=129688550;refseq.start_2=129688550;refseq.start_3=129688550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr3 129774903 . A G 137.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=7.73;MQ=98.47;MQ0=0;OQ=6629.27;QD=32.18;RankSumP=1.00000;SB=-1208.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.360T>C;refseq.codonCoord=120;refseq.end=129774903;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_007354;refseq.name2=C3orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.S120S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=934;refseq.start=129774903;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr3 129827476 . G A 120.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.79;MQ0=0;OQ=1336.87;QD=13.24;RankSumP=0.193800;SB=-321.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1206C>T;refseq.codonCoord=402;refseq.end=129827476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_002950;refseq.name2=RPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D402D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=70;refseq.start=129827476;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr3 129839542 . C T 341.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.63;MQ0=0;OQ=6739.15;QD=41.60;RankSumP=1.00000;SB=-2806.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.423G>A;refseq.codonCoord=141;refseq.end=129839542;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_002950;refseq.name2=RPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P141P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=97;refseq.start=129839542;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr3 130096875 . A C 186.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.04;MQ0=0;OQ=1666.29;QD=14.36;RankSumP=0.156804;SB=-657.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.379A>C;refseq.codonCoord=127;refseq.end=130096875;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_014049;refseq.name2=ACAD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R127R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=33;refseq.start=130096875;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr3 130110623 . C T 210.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.15;MQ0=0;OQ=1438.95;QD=15.31;RankSumP=0.166329;SB=-457.39;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1476C>T;refseq.codonCoord=492;refseq.end=130110623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_014049;refseq.name2=ACAD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P492P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=130110623;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr3 130238643 . G A 146.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=97.00;MQ0=0;OQ=693.46;QD=23.12;RankSumP=1.00000;SB=-270.33;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1583G>A;refseq.codonCoord=528;refseq.end=130238643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1583;refseq.name=NM_024768;refseq.name2=CCDC48;refseq.positionType=CDS;refseq.proteinCoordStr=p.R528Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=130238643;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr3 130373040 . G A 413.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=7594.51;QD=41.50;RankSumP=1.00000;SB=-2908.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.156C>T;refseq.codingCoordStr_2=c.156C>T;refseq.codingCoordStr_3=c.135C>T;refseq.codingCoordStr_4=c.135C>T;refseq.codingCoordStr_5=c.135C>T;refseq.codingCoordStr_6=c.156C>T;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.codonCoord_3=45;refseq.codonCoord_4=45;refseq.codonCoord_5=45;refseq.codonCoord_6=52;refseq.end_1=130373040;refseq.end_2=130373040;refseq.end_3=130373040;refseq.end_4=130373040;refseq.end_5=130373040;refseq.end_6=130373040;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=362;refseq.mrnaCoord_2=362;refseq.mrnaCoord_3=341;refseq.mrnaCoord_4=341;refseq.mrnaCoord_5=341;refseq.mrnaCoord_6=362;refseq.name2_1=CNBP;refseq.name2_2=CNBP;refseq.name2_3=CNBP;refseq.name2_4=CNBP;refseq.name2_5=CNBP;refseq.name2_6=CNBP;refseq.name_1=NM_001127192;refseq.name_2=NM_001127193;refseq.name_3=NM_001127194;refseq.name_4=NM_001127195;refseq.name_5=NM_001127196;refseq.name_6=NM_003418;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.D52D;refseq.proteinCoordStr_2=p.D52D;refseq.proteinCoordStr_3=p.D45D;refseq.proteinCoordStr_4=p.D45D;refseq.proteinCoordStr_5=p.D45D;refseq.proteinCoordStr_6=p.D52D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.spliceDist_4=32;refseq.spliceDist_5=32;refseq.spliceDist_6=32;refseq.start_1=130373040;refseq.start_2=130373040;refseq.start_3=130373040;refseq.start_4=130373040;refseq.start_5=130373040;refseq.start_6=130373040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;set=Intersection GT 1/1 chr3 130634779 . G A 390.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=8170.43;QD=40.65;RankSumP=1.00000;SB=-3251.42;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1413C>T;refseq.codonCoord=471;refseq.end=130634779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1589;refseq.name=NM_003925;refseq.name2=MBD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G471G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=130634779;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr3 130638360 . C T 159.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.88;MQ0=0;OQ=19254.46;QD=41.41;RankSumP=1.00000;SB=-7653.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.817G>A;refseq.codonCoord=273;refseq.end=130638360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_003925;refseq.name2=MBD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A273T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-385;refseq.start=130638360;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr3 130696992 . G A 153.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=7.02;MQ=82.88;MQ0=36;OQ=4508.90;QD=21.27;RankSumP=0.0500896;SB=-774.73;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1883G>A;refseq.codingCoordStr_2=c.2213G>A;refseq.codingCoordStr_3=c.2060G>A;refseq.codingCoordStr_4=c.1727G>A;refseq.codonCoord_1=628;refseq.codonCoord_2=738;refseq.codonCoord_3=687;refseq.codonCoord_4=576;refseq.end_1=130696992;refseq.end_2=130696992;refseq.end_3=130696992;refseq.end_4=130696992;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2089;refseq.mrnaCoord_2=2419;refseq.mrnaCoord_3=2266;refseq.mrnaCoord_4=1933;refseq.name2_1=IFT122;refseq.name2_2=IFT122;refseq.name2_3=IFT122;refseq.name2_4=IFT122;refseq.name_1=NM_018262;refseq.name_2=NM_052985;refseq.name_3=NM_052989;refseq.name_4=NM_052990;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R628Q;refseq.proteinCoordStr_2=p.R738Q;refseq.proteinCoordStr_3=p.R687Q;refseq.proteinCoordStr_4=p.R576Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.start_1=130696992;refseq.start_2=130696992;refseq.start_3=130696992;refseq.start_4=130696992;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/0 chr3 130697048 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=298;Dels=0.00;HRun=0;HaplotypeScore=9.44;MQ=95.05;MQ0=0;OQ=2216.58;QD=7.44;RankSumP=0.261054;SB=-871.19;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1939T>C;refseq.codingCoordStr_2=c.2269T>C;refseq.codingCoordStr_3=c.2116T>C;refseq.codingCoordStr_4=c.1783T>C;refseq.codonCoord_1=647;refseq.codonCoord_2=757;refseq.codonCoord_3=706;refseq.codonCoord_4=595;refseq.end_1=130697048;refseq.end_2=130697048;refseq.end_3=130697048;refseq.end_4=130697048;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2145;refseq.mrnaCoord_2=2475;refseq.mrnaCoord_3=2322;refseq.mrnaCoord_4=1989;refseq.name2_1=IFT122;refseq.name2_2=IFT122;refseq.name2_3=IFT122;refseq.name2_4=IFT122;refseq.name_1=NM_018262;refseq.name_2=NM_052985;refseq.name_3=NM_052989;refseq.name_4=NM_052990;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F647L;refseq.proteinCoordStr_2=p.F757L;refseq.proteinCoordStr_3=p.F706L;refseq.proteinCoordStr_4=p.F595L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.spliceDist_3=70;refseq.spliceDist_4=70;refseq.start_1=130697048;refseq.start_2=130697048;refseq.start_3=130697048;refseq.start_4=130697048;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/0 chr3 130697059 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=300;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=95.65;MQ0=0;OQ=1386.80;QD=4.62;RankSumP=0.278967;SB=-464.06;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1950C>T;refseq.codingCoordStr_2=c.2280C>T;refseq.codingCoordStr_3=c.2127C>T;refseq.codingCoordStr_4=c.1794C>T;refseq.codonCoord_1=650;refseq.codonCoord_2=760;refseq.codonCoord_3=709;refseq.codonCoord_4=598;refseq.end_1=130697059;refseq.end_2=130697059;refseq.end_3=130697059;refseq.end_4=130697059;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2156;refseq.mrnaCoord_2=2486;refseq.mrnaCoord_3=2333;refseq.mrnaCoord_4=2000;refseq.name2_1=IFT122;refseq.name2_2=IFT122;refseq.name2_3=IFT122;refseq.name2_4=IFT122;refseq.name_1=NM_018262;refseq.name_2=NM_052985;refseq.name_3=NM_052989;refseq.name_4=NM_052990;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A650A;refseq.proteinCoordStr_2=p.A760A;refseq.proteinCoordStr_3=p.A709A;refseq.proteinCoordStr_4=p.A598A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.spliceDist_4=81;refseq.start_1=130697059;refseq.start_2=130697059;refseq.start_3=130697059;refseq.start_4=130697059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=soap-filterIngatk GT 0/1 chr3 130721144 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.3338T>G;refseq.codingCoordStr_2=c.3668T>G;refseq.codingCoordStr_3=c.3515T>G;refseq.codingCoordStr_4=c.3185T>G;refseq.codonCoord_1=1113;refseq.codonCoord_2=1223;refseq.codonCoord_3=1172;refseq.codonCoord_4=1062;refseq.end_1=130721144;refseq.end_2=130721144;refseq.end_3=130721144;refseq.end_4=130721144;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3544;refseq.mrnaCoord_2=3874;refseq.mrnaCoord_3=3721;refseq.mrnaCoord_4=3391;refseq.name2_1=IFT122;refseq.name2_2=IFT122;refseq.name2_3=IFT122;refseq.name2_4=IFT122;refseq.name_1=NM_018262;refseq.name_2=NM_052985;refseq.name_3=NM_052989;refseq.name_4=NM_052990;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V1113G;refseq.proteinCoordStr_2=p.V1223G;refseq.proteinCoordStr_3=p.V1172G;refseq.proteinCoordStr_4=p.V1062G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.start_1=130721144;refseq.start_2=130721144;refseq.start_3=130721144;refseq.start_4=130721144;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr3 130750799 . G A 74 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=3.01792e-05;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.644G>A;refseq.codonCoord=215;refseq.end=130750799;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_153833;refseq.name2=H1FOO;refseq.positionType=CDS;refseq.proteinCoordStr=p.R215K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-99;refseq.start=130750799;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr3 130750800 . G A 47 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=2;RankSumP=4.50435e-07;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.645G>A;refseq.codonCoord=215;refseq.end=130750800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_153833;refseq.name2=H1FOO;refseq.positionType=CDS;refseq.proteinCoordStr=p.R215R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-98;refseq.start=130750800;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/0 chr3 130757896 . C T 324.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=4.35;MQ=98.34;MQ0=0;OQ=13354.18;QD=41.47;RankSumP=1.00000;SB=-4563.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.5727G>A;refseq.codonCoord=1909;refseq.end=130757896;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5827;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1909Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=66;refseq.start=130757896;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr3 130764670 . C T 161.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.93;MQ0=0;OQ=916.92;QD=39.87;RankSumP=1.00000;SB=-410.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4625G>A;refseq.codonCoord=1542;refseq.end=130764670;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4725;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1542N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-44;refseq.start=130764670;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr3 130767508 . A C 232.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=98.89;MQ0=0;OQ=5872.55;QD=36.48;RankSumP=1.00000;SB=-2679.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4234T>G;refseq.codonCoord=1412;refseq.end=130767508;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4334;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1412V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=43;refseq.start=130767508;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 130769103 . G C 216.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=3008.92;QD=47.01;RankSumP=1.00000;SB=-990.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.4008C>G;refseq.codonCoord=1336;refseq.end=130769103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4108;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1336L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=35;refseq.start=130769103;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 130769325 . G A 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=176;Dels=0.00;HRun=2;HaplotypeScore=13.76;MQ=97.91;MQ0=0;OQ=6874.42;QD=39.06;RankSumP=1.00000;SB=-1649.38;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3879C>T;refseq.codonCoord=1293;refseq.end=130769325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3979;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1293F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=14;refseq.start=130769325;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr3 130773105 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3273T>G;refseq.codonCoord=1091;refseq.end=130773105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3373;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1091G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=28;refseq.start=130773105;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 130774441 . T C 330.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.15;MQ0=0;OQ=3417.51;QD=33.50;RankSumP=1.00000;SB=-1630.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2871A>G;refseq.codonCoord=957;refseq.end=130774441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2971;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P957P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=34;refseq.start=130774441;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr3 130775873 . T C 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.47;MQ0=0;OQ=494.26;QD=27.46;RankSumP=1.00000;SB=-84.92;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2681A>G;refseq.codonCoord=894;refseq.end=130775873;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2781;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H894R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=130775873;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr3 130775946 . T C 177.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=97.99;MQ0=0;OQ=2504.60;QD=31.70;RankSumP=1.00000;SB=-576.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2608A>G;refseq.codonCoord=870;refseq.end=130775946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2708;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M870V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=78;refseq.start=130775946;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 130779913 . C G 193.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.75;MQ0=0;OQ=2031.64;QD=40.63;RankSumP=1.00000;SB=-1033.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2295G>C;refseq.codonCoord=765;refseq.end=130779913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2395;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T765T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-52;refseq.start=130779913;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 130806883 . A G 35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=437.33;QD=27.33;RankSumP=1.00000;SB=-40.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1290T>C;refseq.codonCoord=430;refseq.end=130806883;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1390;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C430C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-22;refseq.start=130806883;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 130807943 . T G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.578297;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.230A>C;refseq.codonCoord=77;refseq.end=130807943;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_015103;refseq.name2=PLXND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N77T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=330;refseq.start=130807943;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 131029419 . T C 243.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.57;MQ0=0;OQ=3486.32;QD=35.57;RankSumP=1.00000;SB=-1728.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.493A>G;refseq.codingCoordStr_2=c.151A>G;refseq.codonCoord_1=165;refseq.codonCoord_2=51;refseq.end_1=131029419;refseq.end_2=131029419;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=328;refseq.name2_1=TMCC1;refseq.name2_2=TMCC1;refseq.name_1=NM_001017395;refseq.name_2=NM_001128224;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S165G;refseq.proteinCoordStr_2=p.S51G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.start_1=131029419;refseq.start_2=131029419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr3 131178644 . T C 234.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1111.89;QD=37.06;RankSumP=1.00000;SB=-566.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.624T>C;refseq.codonCoord=208;refseq.end=131178644;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1185;refseq.name=NM_007117;refseq.name2=TRH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L208L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=413;refseq.start=131178644;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr3 131178731 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=98.41;MQ0=0;OQ=1582.79;QD=32.30;RankSumP=1.00000;SB=-487.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.711A>G;refseq.codonCoord=237;refseq.end=131178731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_007117;refseq.name2=TRH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R237R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=500;refseq.start=131178731;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr3 132133619 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.181A>G;refseq.codingCoordStr_2=c.181A>G;refseq.codingCoordStr_3=c.181A>G;refseq.codingCoordStr_4=c.181A>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.codonCoord_3=61;refseq.codonCoord_4=61;refseq.end_1=132133619;refseq.end_2=132133619;refseq.end_3=132133619;refseq.end_4=132133619;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=361;refseq.mrnaCoord_2=361;refseq.mrnaCoord_3=361;refseq.mrnaCoord_4=361;refseq.name2_1=ATP2C1;refseq.name2_2=ATP2C1;refseq.name2_3=ATP2C1;refseq.name2_4=ATP2C1;refseq.name_1=NM_001001485;refseq.name_2=NM_001001486;refseq.name_3=NM_001001487;refseq.name_4=NM_014382;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N61D;refseq.proteinCoordStr_2=p.N61D;refseq.proteinCoordStr_3=p.N61D;refseq.proteinCoordStr_4=p.N61D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.spliceDist_3=-54;refseq.spliceDist_4=-54;refseq.start_1=132133619;refseq.start_2=132133619;refseq.start_3=132133619;refseq.start_4=132133619;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=FilteredInAll GT 0/1 chr3 132226502 . G A 225.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=8.62;MQ=98.98;MQ0=0;OQ=3051.98;QD=16.77;RankSumP=0.0126260;SB=-1343.39;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.339C>T;refseq.codonCoord=113;refseq.end=132226502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_014065;refseq.name2=ASTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y113Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=364;refseq.start=132226502;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr3 132430125 . A T 183.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.87;MQ0=0;OQ=1335.64;QD=19.93;RankSumP=0.443870;SB=-290.78;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1463A>T;refseq.codingCoordStr_2=c.1463A>T;refseq.codonCoord_1=488;refseq.codonCoord_2=488;refseq.end_1=132430125;refseq.end_2=132430125;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1716;refseq.mrnaCoord_2=1789;refseq.name2_1=NEK11;refseq.name2_2=NEK11;refseq.name_1=NM_001146003;refseq.name_2=NM_024800;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E488V;refseq.proteinCoordStr_2=p.E488V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=132430125;refseq.start_2=132430125;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr3 133551521 . C T 102.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=4252.76;QD=18.99;RankSumP=0.442580;SB=-1221.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.849C>T;refseq.codingCoordStr_2=c.849C>T;refseq.codonCoord_1=283;refseq.codonCoord_2=283;refseq.end_1=133551521;refseq.end_2=133551521;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=939;refseq.name2_1=ACPP;refseq.name2_2=ACPP;refseq.name_1=NM_001099;refseq.name_2=NM_001134194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L283L;refseq.proteinCoordStr_2=p.L283L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=133551521;refseq.start_2=133551521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr3 133558397 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.86;MQ=97.85;MQ0=0;OQ=1804.62;QD=14.67;RankSumP=0.447833;SB=-364.34;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1146A>G;refseq.codingCoordStr_2=c.1138+8;refseq.codonCoord_1=382;refseq.end_1=133558397;refseq.end_2=133558397;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1236;refseq.name2_1=ACPP;refseq.name2_2=ACPP;refseq.name_1=NM_001099;refseq.name_2=NM_001134194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.proteinCoordStr_1=p.E382E;refseq.referenceAA_1=Glu;refseq.referenceCodon_1=GAA;refseq.spliceDist_1=178;refseq.spliceDist_2=8;refseq.spliceInfo_2=splice-donor_8;refseq.start_1=133558397;refseq.start_2=133558397;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantCodon_1=GAG;set=Intersection GT 0/1 chr3 133701313 . G T 197.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.77;MQ0=0;OQ=5794.34;QD=34.08;RankSumP=1.00000;SB=-2263.81;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4387G>T;refseq.codonCoord=1463;refseq.end=133701313;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4452;refseq.name=NM_015268;refseq.name2=DNAJC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1463S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-30;refseq.start=133701313;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr3 133703829 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=2;HaplotypeScore=10.34;MQ=98.57;MQ0=0;OQ=4604.92;QD=18.49;RankSumP=0.406122;SB=-1073.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4543C>T;refseq.codonCoord=1515;refseq.end=133703829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4608;refseq.name=NM_015268;refseq.name2=DNAJC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1515S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=133703829;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr3 133729798 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.6457G>C;refseq.codonCoord=2153;refseq.end=133729798;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6522;refseq.name=NM_015268;refseq.name2=DNAJC13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2153P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-69;refseq.start=133729798;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 133802051 . A C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=11.00;MQ=35.93;MQ0=6;OQ=2473.81;QD=15.56;RankSumP=0.719986;SB=-771.67;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.120A>C;refseq.codingCoordStr_3=c.120A>C;refseq.codonCoord_2=40;refseq.codonCoord_3=40;refseq.end_1=133804752;refseq.end_2=133802051;refseq.end_3=133802051;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=203;refseq.mrnaCoord_3=381;refseq.name2_1=ACAD11;refseq.name2_2=CCRL1;refseq.name2_3=CCRL1;refseq.name_1=NM_032169;refseq.name_2=NM_016557;refseq.name_3=NM_178445;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A40A;refseq.proteinCoordStr_3=p.A40A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=129;refseq.spliceDist_3=381;refseq.start_1=133781103;refseq.start_2=133802051;refseq.start_3=133802051;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 0/1 chr3 133802299 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.350000;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.368T>C;refseq.codingCoordStr_3=c.368T>C;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.end_1=133804752;refseq.end_2=133802299;refseq.end_3=133802299;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=451;refseq.mrnaCoord_3=629;refseq.name2_1=ACAD11;refseq.name2_2=CCRL1;refseq.name2_3=CCRL1;refseq.name_1=NM_032169;refseq.name_2=NM_016557;refseq.name_3=NM_178445;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F123S;refseq.proteinCoordStr_3=p.F123S;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_2=377;refseq.spliceDist_3=629;refseq.start_1=133781103;refseq.start_2=133802299;refseq.start_3=133802299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=FilteredInAll GT 1/0 chr3 133843573 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=642;Dels=0.00;HRun=0;HaplotypeScore=26.74;MQ=98.83;MQ0=0;OQ=26607.39;QD=41.44;RankSumP=1.00000;SB=-10634.36;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.470G>A;refseq.codonCoord=157;refseq.end=133843573;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_032169;refseq.name2=ACAD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R157H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-68;refseq.start=133843573;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr3 133844286 . G A 361.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=5.68;MQ=99.00;MQ0=0;OQ=5364.49;QD=20.17;RankSumP=0.362237;SB=-1741.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.300C>T;refseq.codonCoord=100;refseq.end=133844286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_032169;refseq.name2=ACAD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P100P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=51;refseq.start=133844286;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr3 133894209 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2454G>T;refseq.codonCoord=818;refseq.end=133894209;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2531;refseq.name=NM_153240;refseq.name2=NPHP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L818F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-22;refseq.start=133894209;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr3 133903036 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1556C>G;refseq.codonCoord=519;refseq.end=133903036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1633;refseq.name=NM_153240;refseq.name2=NPHP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A519G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=32;refseq.start=133903036;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr3 134581935 . G A 438.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.54;MQ0=0;OQ=3051.77;QD=37.22;RankSumP=1.00000;SB=-1472.87;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.690G>A;refseq.codingCoordStr_2=c.690G>A;refseq.codonCoord_1=230;refseq.codonCoord_2=230;refseq.end_1=134581935;refseq.end_2=134581935;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=960;refseq.mrnaCoord_2=964;refseq.name2_1=TMEM108;refseq.name2_2=TMEM108;refseq.name_1=NM_001136469;refseq.name_2=NM_023943;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P230P;refseq.proteinCoordStr_2=p.P230P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=650;refseq.spliceDist_2=650;refseq.start_1=134581935;refseq.start_2=134581935;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr3 134650053 . G A 285.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=5.88;MQ=98.88;MQ0=0;OQ=2079.48;QD=15.75;RankSumP=0.344657;SB=-962.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=134650053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_003571;refseq.name2=BFSP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=31;refseq.start=134650053;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr3 134947973 . A G 114.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.92;MQ0=0;OQ=842.94;QD=33.72;RankSumP=1.00000;SB=-204.42;SecondBestBaseQ=0;refseq.chr=chr3;refseq.codingCoordStr=c.-2A>G;refseq.end=134947973;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=307;refseq.name=NM_001063;refseq.name2=TF;refseq.positionType=utr5;refseq.spliceDist=-45;refseq.start=134947973;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr3 134957018 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=17.78;MQ=98.27;MQ0=0;OQ=2097.98;QD=12.34;RankSumP=0.349802;SB=-382.72;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.624G>A;refseq.codonCoord=208;refseq.end=134957018;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_001063;refseq.name2=TF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S208S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-12;refseq.start=134957018;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 134967823 . A G 437.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=7158.51;QD=41.62;RankSumP=1.00000;SB=-2303.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1342A>G;refseq.codonCoord=448;refseq.end=134967823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1650;refseq.name=NM_001063;refseq.name2=TF;refseq.positionType=CDS;refseq.proteinCoordStr=p.I448V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=12;refseq.start=134967823;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr3 134977044 . C T 349.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=98.64;MQ0=0;OQ=4936.39;QD=18.35;RankSumP=0.314685;SB=-1319.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1765C>T;refseq.codonCoord=589;refseq.end=134977044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2073;refseq.name=NM_001063;refseq.name2=TF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P589S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=78;refseq.start=134977044;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr3 135007407 . G C 354.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.52;MQ0=0;OQ=2888.64;QD=19.39;RankSumP=0.142701;SB=-1412.71;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.25G>C;refseq.codonCoord=9;refseq.end=135007407;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_021203;refseq.name2=SRPRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V9L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-130;refseq.start=135007407;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr3 135560160 . C G 312.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.07;MQ=98.38;MQ0=0;OQ=4300.47;QD=37.40;RankSumP=1.00000;SB=-1391.46;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2196G>C;refseq.codonCoord=732;refseq.end=135560160;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2480;refseq.name=NM_016201;refseq.name2=AMOTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E732D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-89;refseq.start=135560160;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr3 135561934 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1587T>G;refseq.codonCoord=529;refseq.end=135561934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1871;refseq.name=NM_016201;refseq.name2=AMOTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G529G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=12;refseq.start=135561934;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 135708659 . T C 286.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.96;MQ0=0;OQ=5164.51;QD=16.61;RankSumP=0.0934578;SB=-1063.50;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.63T>C;refseq.codingCoordStr_2=c.63T>C;refseq.codingCoordStr_3=c.63T>C;refseq.codingCoordStr_4=c.63T>C;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.codonCoord_4=21;refseq.end_1=135708659;refseq.end_2=135708659;refseq.end_3=135708659;refseq.end_4=135708659;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=408;refseq.mrnaCoord_3=236;refseq.mrnaCoord_4=512;refseq.name2_1=CEP63;refseq.name2_2=CEP63;refseq.name2_3=CEP63;refseq.name2_4=CEP63;refseq.name_1=NM_001042383;refseq.name_2=NM_001042384;refseq.name_3=NM_001042400;refseq.name_4=NM_025180;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C21C;refseq.proteinCoordStr_2=p.C21C;refseq.proteinCoordStr_3=p.C21C;refseq.proteinCoordStr_4=p.C21C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.spliceDist_3=19;refseq.spliceDist_4=19;refseq.start_1=135708659;refseq.start_2=135708659;refseq.start_3=135708659;refseq.start_4=135708659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;set=Intersection GT 1/0 chr3 135760960 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=4.63;MQ=98.43;MQ0=0;OQ=1347.32;QD=17.96;RankSumP=0.477356;SB=-424.88;SecondBestBaseQ=32;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_4=c.1952C>T;refseq.codonCoord_4=651;refseq.end_1=135762898;refseq.end_2=135762898;refseq.end_3=135776314;refseq.end_4=135760960;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=2401;refseq.name2_1=CEP63;refseq.name2_2=CEP63;refseq.name2_3=CEP63;refseq.name2_4=CEP63;refseq.name_1=NM_001042383;refseq.name_2=NM_001042400;refseq.name_3=NM_001042384;refseq.name_4=NM_025180;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.S651L;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=TCG;refseq.spliceDist_4=-2;refseq.spliceInfo_4=splice-donor_-2;refseq.start_1=135753555;refseq.start_2=135753555;refseq.start_3=135753555;refseq.start_4=135760960;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Leu;refseq.variantCodon_4=TTG;set=Intersection GT 0/1 chr3 137203130 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.100A>C;refseq.codonCoord=34;refseq.end=137203130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_002718;refseq.name2=PPP2R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T34P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=540;refseq.start=137203130;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 137203230 . A G 190.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=2800.71;QD=18.67;RankSumP=0.219483;SB=-1294.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.200A>G;refseq.codonCoord=67;refseq.end=137203230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_002718;refseq.name2=PPP2R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D67G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=640;refseq.start=137203230;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr3 137203363 . T C 109.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=19.31;MQ=98.87;MQ0=0;OQ=2624.49;QD=16.93;RankSumP=0.437618;SB=-842.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.333T>C;refseq.codonCoord=111;refseq.end=137203363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=898;refseq.name=NM_002718;refseq.name2=PPP2R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D111D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=773;refseq.start=137203363;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr3 137204954 . A G 228.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=98.97;MQ0=0;OQ=6021.25;QD=17.50;RankSumP=0.362628;SB=-2059.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1924A>G;refseq.codonCoord=642;refseq.end=137204954;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2489;refseq.name=NM_002718;refseq.name2=PPP2R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S642G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-72;refseq.start=137204954;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr3 137346599 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3354A>C;refseq.codingCoordStr_2=c.1491A>C;refseq.codonCoord_1=1118;refseq.codonCoord_2=497;refseq.end_1=137346599;refseq.end_2=137346599;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3919;refseq.mrnaCoord_2=1821;refseq.name2_1=PPP2R3A;refseq.name2_2=PPP2R3A;refseq.name_1=NM_002718;refseq.name_2=NM_181897;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1118D;refseq.proteinCoordStr_2=p.E497D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=137346599;refseq.start_2=137346599;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr3 137570728 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=2;HaplotypeScore=1.95;MQ=98.89;MQ0=0;OQ=1512.00;QD=15.75;RankSumP=0.320109;SB=-600.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2457C>T;refseq.codonCoord=819;refseq.end=137570728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2749;refseq.name=NM_005862;refseq.name2=STAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F819F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=87;refseq.start=137570728;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr3 138056130 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=6.12;MQ=98.19;MQ0=0;OQ=1267.54;QD=19.50;RankSumP=0.147402;SB=-623.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.138A>G;refseq.codingCoordStr_2=c.138A>G;refseq.codingCoordStr_3=c.138A>G;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=138056130;refseq.end_2=138056130;refseq.end_3=138056130;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=501;refseq.mrnaCoord_2=352;refseq.mrnaCoord_3=766;refseq.name2_1=TMEM22;refseq.name2_2=TMEM22;refseq.name2_3=TMEM22;refseq.name_1=NM_001097599;refseq.name_2=NM_001097600;refseq.name_3=NM_025246;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G46G;refseq.proteinCoordStr_2=p.G46G;refseq.proteinCoordStr_3=p.G46G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.spliceDist_3=156;refseq.start_1=138056130;refseq.start_2=138056130;refseq.start_3=138056130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr3 138057191 . A G 198.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=97.94;MQ0=0;OQ=5201.72;QD=21.58;RankSumP=0.430945;SB=-1734.25;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1199A>G;refseq.codingCoordStr_2=c.1199A>G;refseq.codingCoordStr_3=c.1199A>G;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.codonCoord_3=400;refseq.end_1=138057191;refseq.end_2=138057191;refseq.end_3=138057191;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1562;refseq.mrnaCoord_2=1413;refseq.mrnaCoord_3=1827;refseq.name2_1=TMEM22;refseq.name2_2=TMEM22;refseq.name2_3=TMEM22;refseq.name_1=NM_001097599;refseq.name_2=NM_001097600;refseq.name_3=NM_025246;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K400R;refseq.proteinCoordStr_2=p.K400R;refseq.proteinCoordStr_3=p.K400R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-234;refseq.spliceDist_2=-234;refseq.spliceDist_3=-234;refseq.start_1=138057191;refseq.start_2=138057191;refseq.start_3=138057191;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 0/1 chr3 138129627 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.94C>T;refseq.codonCoord=32;refseq.end=138129627;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_006153;refseq.name2=NCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L32L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=112;refseq.start=138129627;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr3 139226198 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=1;HaplotypeScore=23.16;MQ=98.61;MQ0=0;OQ=10089.11;QD=19.71;RankSumP=0.414953;SB=-2826.90;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.445A>T;refseq.codingCoordStr_2=c.445A>T;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=139226198;refseq.end_2=139226198;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=498;refseq.mrnaCoord_2=507;refseq.name2_1=CLDN18;refseq.name2_2=CLDN18;refseq.name_1=NM_001002026;refseq.name_2=NM_016369;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M149L;refseq.proteinCoordStr_2=p.M149L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=139226198;refseq.start_2=139226198;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr3 139232529 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=1.21;MQ=98.68;MQ0=0;OQ=2074.70;QD=13.39;RankSumP=0.475885;SB=-1017.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.642A>G;refseq.codingCoordStr_2=c.642A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=139232529;refseq.end_2=139232529;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=695;refseq.mrnaCoord_2=704;refseq.name2_1=CLDN18;refseq.name2_2=CLDN18;refseq.name_1=NM_001002026;refseq.name_2=NM_016369;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S214S;refseq.proteinCoordStr_2=p.S214S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=139232529;refseq.start_2=139232529;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr3 139269132 . T C 365.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.69;MQ0=0;OQ=1830.12;QD=38.13;RankSumP=1.00000;SB=-525.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1933A>G;refseq.codonCoord=645;refseq.end=139269132;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2296;refseq.name=NM_173543;refseq.name2=DZIP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.K645E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-70;refseq.start=139269132;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr3 139269737 . C T 220.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=97.40;MQ0=0;OQ=1789.29;QD=31.39;RankSumP=1.00000;SB=-644.03;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1778G>A;refseq.codonCoord=593;refseq.end=139269737;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2141;refseq.name=NM_173543;refseq.name2=DZIP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R593H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-55;refseq.start=139269737;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr3 139269882 . T C 311.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=98.84;MQ0=0;OQ=2619.10;QD=34.92;RankSumP=1.00000;SB=-842.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1633A>G;refseq.codonCoord=545;refseq.end=139269882;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1996;refseq.name=NM_173543;refseq.name2=DZIP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T545A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=18;refseq.start=139269882;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 139289949 . G A 172.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.80;MQ0=0;OQ=4557.68;QD=35.33;RankSumP=1.00000;SB=-221.28;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.961C>T;refseq.codingCoordStr_2=c.961C>T;refseq.codonCoord_1=321;refseq.codonCoord_2=321;refseq.end_1=139289949;refseq.end_2=139289949;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1271;refseq.mrnaCoord_2=1324;refseq.name2_1=DZIP1L;refseq.name2_2=DZIP1L;refseq.name_1=NM_001170538;refseq.name_2=NM_173543;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R321W;refseq.proteinCoordStr_2=p.R321W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=139289949;refseq.start_2=139289949;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 1/1 chr3 139296496 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.606A>C;refseq.codingCoordStr_2=c.606A>C;refseq.codonCoord_1=202;refseq.codonCoord_2=202;refseq.end_1=139296496;refseq.end_2=139296496;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=916;refseq.mrnaCoord_2=969;refseq.name2_1=DZIP1L;refseq.name2_2=DZIP1L;refseq.name_1=NM_001170538;refseq.name_2=NM_173543;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E202D;refseq.proteinCoordStr_2=p.E202D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=139296496;refseq.start_2=139296496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr3 139325796 . T C 298.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=98.70;MQ0=0;OQ=13396.80;QD=40.23;RankSumP=1.00000;SB=-6149.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1023A>G;refseq.codonCoord=341;refseq.end=139325796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_016161;refseq.name2=A4GNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.*341*;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=-547;refseq.start=139325796;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 1/1 chr3 139326166 . G T 444.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.91;MQ0=0;OQ=7082.08;QD=38.70;RankSumP=1.00000;SB=-2573.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.653C>A;refseq.codonCoord=218;refseq.end=139326166;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_016161;refseq.name2=A4GNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A218D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=245;refseq.start=139326166;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr3 139332693 . A G 391.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=97.89;MQ0=0;OQ=3549.24;QD=35.85;RankSumP=1.00000;SB=-1044.08;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=139332693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_016161;refseq.name2=A4GNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.C32C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=122;refseq.start=139332693;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 139363433 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=27.09;MQ=98.73;MQ0=0;OQ=17534.31;QD=42.56;RankSumP=1.00000;SB=-4234.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1623C>T;refseq.codonCoord=541;refseq.end=139363433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1759;refseq.name=NM_016216;refseq.name2=DBR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D541D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=682;refseq.start=139363433;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr3 139363955 . T A 308.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=98.80;MQ0=0;OQ=8917.05;QD=40.35;RankSumP=1.00000;SB=-4032.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1101A>T;refseq.codonCoord=367;refseq.end=139363955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1237;refseq.name=NM_016216;refseq.name2=DBR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T367T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=160;refseq.start=139363955;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr3 139515871 . C T 286.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=98.63;MQ0=0;OQ=8555.62;QD=44.33;RankSumP=1.00000;SB=-2939.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.270G>A;refseq.codonCoord=90;refseq.end=139515871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_178130;refseq.name2=TXNDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E90E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=139515871;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr3 139669686 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1268A>G;refseq.codonCoord=423;refseq.end=139669686;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_031913;refseq.name2=ESYT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E423G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-41;refseq.start=139669686;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 139673922 . G A 204.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.88;MQ0=0;OQ=2222.21;QD=14.43;RankSumP=0.0408746;SB=-790.70;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1768G>A;refseq.codonCoord=590;refseq.end=139673922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_031913;refseq.name2=ESYT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G590R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=28;refseq.start=139673922;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr3 139727090 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.45;MQ0=0;OQ=1832.64;QD=25.45;RankSumP=0.344657;SB=-656.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.876G>A;refseq.codonCoord=292;refseq.end=139727090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_024491;refseq.name2=CEP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.T292T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=139727090;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 139771853 . T C 259.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.89;MQ0=0;OQ=2527.49;QD=15.70;RankSumP=0.355110;SB=-697.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.462A>G;refseq.codonCoord=154;refseq.end=139771853;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_024491;refseq.name2=CEP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.L154L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=139771853;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr3 139771911 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=4996.30;QD=19.75;RankSumP=0.492881;SB=-1776.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.404G>A;refseq.codonCoord=135;refseq.end=139771911;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_024491;refseq.name2=CEP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.S135N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-62;refseq.start=139771911;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr3 139812552 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=736;Dels=0.00;HRun=0;HaplotypeScore=25.54;MQ=98.70;MQ0=0;OQ=13294.54;QD=18.06;RankSumP=0.262223;SB=-4598.51;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_4=c.63G>A;refseq.codonCoord_4=21;refseq.end_1=139821232;refseq.end_2=139822928;refseq.end_3=139822928;refseq.end_4=139812552;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=655;refseq.name2_1=FAIM;refseq.name2_2=FAIM;refseq.name2_3=FAIM;refseq.name2_4=FAIM;refseq.name_1=NM_001033031;refseq.name_2=NM_001033032;refseq.name_3=NM_018147;refseq.name_4=NM_001033030;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P21P;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCG;refseq.spliceDist_4=-18;refseq.start_1=139810480;refseq.start_2=139810480;refseq.start_3=139810689;refseq.start_4=139812552;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Pro;refseq.variantCodon_4=CCA;set=Intersection GT 1/0 chr3 139830647 . G A 159.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=9.43;MQ=99.00;MQ0=0;OQ=1416.23;QD=14.16;RankSumP=0.200477;SB=-422.36;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.451G>A;refseq.codingCoordStr_2=c.415G>A;refseq.codingCoordStr_3=c.349G>A;refseq.codingCoordStr_4=c.349G>A;refseq.codonCoord_1=151;refseq.codonCoord_2=139;refseq.codonCoord_3=117;refseq.codonCoord_4=117;refseq.end_1=139830647;refseq.end_2=139830647;refseq.end_3=139830647;refseq.end_4=139830647;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1043;refseq.mrnaCoord_2=669;refseq.mrnaCoord_3=609;refseq.mrnaCoord_4=441;refseq.name2_1=FAIM;refseq.name2_2=FAIM;refseq.name2_3=FAIM;refseq.name2_4=FAIM;refseq.name_1=NM_001033030;refseq.name_2=NM_001033031;refseq.name_3=NM_001033032;refseq.name_4=NM_018147;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A151T;refseq.proteinCoordStr_2=p.A139T;refseq.proteinCoordStr_3=p.A117T;refseq.proteinCoordStr_4=p.A117T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=139830647;refseq.start_2=139830647;refseq.start_3=139830647;refseq.start_4=139830647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/0 chr3 139885269 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2366T>G;refseq.codonCoord=789;refseq.end=139885269;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2366;refseq.name=NM_006219;refseq.name2=PIK3CB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V789G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=51;refseq.start=139885269;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr3 140577057 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=418;Dels=0.00;HRun=2;HaplotypeScore=35.12;MQ=98.20;MQ0=0;OQ=161.31;QD=0.39;RankSumP=0.00000;SB=714.06;SecondBestBaseQ=13;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.594C>A;refseq.codonCoord_2=198;refseq.end_1=140577057;refseq.end_2=140577057;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=724;refseq.name2_1=COPB2;refseq.name2_2=COPB2;refseq.name_1=NR_023350;refseq.name_2=NM_004766;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D198E;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=140577057;refseq.start_2=140577057;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr3 140719195 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.558T>G;refseq.codonCoord=186;refseq.end=140719195;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_002899;refseq.name2=RBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G186G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=18;refseq.start=140719195;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 141650226 . A G 222.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.83;MQ0=0;OQ=2199.59;QD=19.64;RankSumP=0.405283;SB=-597.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.963A>G;refseq.codonCoord=321;refseq.end=141650226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1153;refseq.name=NM_022131;refseq.name2=CLSTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q321Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-11;refseq.start=141650226;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr3 141764413 . C T 285.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.36;MQ=97.97;MQ0=0;OQ=8624.03;QD=41.26;RankSumP=1.00000;SB=-3036.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2283C>T;refseq.codonCoord=761;refseq.end=141764413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2473;refseq.name=NM_022131;refseq.name2=CLSTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S761S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=71;refseq.start=141764413;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr3 141765551 . C T 303.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=98.94;MQ0=0;OQ=7745.30;QD=41.64;RankSumP=1.00000;SB=-1354.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2541C>T;refseq.codonCoord=847;refseq.end=141765551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2731;refseq.name=NM_022131;refseq.name2=CLSTN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V847V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=59;refseq.start=141765551;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr3 141884383 . A G 245.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.06;MQ0=0;OQ=1862.72;QD=36.52;RankSumP=1.00000;SB=-792.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.731A>G;refseq.codonCoord=244;refseq.end=141884383;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_152616;refseq.name2=TRIM42;refseq.positionType=CDS;refseq.proteinCoordStr=p.K244R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-309;refseq.start=141884383;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr3 141884535 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.883T>C;refseq.codonCoord=295;refseq.end=141884535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_152616;refseq.name2=TRIM42;refseq.positionType=CDS;refseq.proteinCoordStr=p.S295P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-157;refseq.start=141884535;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 141889637 . G A 327.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.49;MQ0=0;OQ=6341.20;QD=39.39;RankSumP=1.00000;SB=-2871.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1423G>A;refseq.codonCoord=475;refseq.end=141889637;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1614;refseq.name=NM_152616;refseq.name2=TRIM42;refseq.positionType=CDS;refseq.proteinCoordStr=p.V475M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=384;refseq.start=141889637;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr3 141889950 . C A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=15.38;MQ=98.51;MQ0=0;OQ=4469.38;QD=27.42;RankSumP=1.00000;SB=-962.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1736C>A;refseq.codonCoord=579;refseq.end=141889950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1927;refseq.name=NM_152616;refseq.name2=TRIM42;refseq.positionType=CDS;refseq.proteinCoordStr=p.A579E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-125;refseq.start=141889950;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr3 142158057 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=18;RankSumP=3.77640e-07;SecondBestBaseQ=11;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.42-2;refseq.codingCoordStr_2=c.42-2;refseq.end_1=142158057;refseq.end_2=142158057;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SLC25A36;refseq.name2_2=SLC25A36;refseq.name_1=NM_001104647;refseq.name_2=NM_018155;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.start_1=142158057;refseq.start_2=142158057;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 0/1 chr3 142177932 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.883A>C;refseq.codingCoordStr_2=c.880A>C;refseq.codonCoord_1=295;refseq.codonCoord_2=294;refseq.end_1=142177932;refseq.end_2=142177932;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1118;refseq.mrnaCoord_2=1115;refseq.name2_1=SLC25A36;refseq.name2_2=SLC25A36;refseq.name_1=NM_001104647;refseq.name_2=NM_018155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T295P;refseq.proteinCoordStr_2=p.T294P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=141;refseq.spliceDist_2=138;refseq.start_1=142177932;refseq.start_2=142177932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr3 142267865 . C A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=89.37;MQ0=0;OQ=106.31;QD=9.66;RankSumP=0.690476;SB=-39.36;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.229C>A;refseq.codonCoord=77;refseq.end=142267865;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_080862;refseq.name2=SPSB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R77R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=382;refseq.start=142267865;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr3 143196558 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.119T>G;refseq.codonCoord=40;refseq.end=143196558;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_006286;refseq.name2=TFDP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V40G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=143196558;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr3 143371915 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1383A>C;refseq.codonCoord_2=461;refseq.end_1=143371915;refseq.end_2=143371915;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2618;refseq.mrnaCoord_2=1535;refseq.name2_1=GK5;refseq.name2_2=GK5;refseq.name_1=NR_033289;refseq.name_2=NM_001039547;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R461S;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=143371915;refseq.start_2=143371915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/0 chr3 143561449 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=132;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.71;MQ0=0;OQ=2235.83;QD=16.94;RankSumP=0.340197;SB=-956.43;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3409G>A;refseq.codingCoordStr_2=c.3409G>A;refseq.codonCoord_1=1137;refseq.codonCoord_2=1137;refseq.end_1=143561449;refseq.end_2=143561449;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3476;refseq.mrnaCoord_2=3476;refseq.name2_1=XRN1;refseq.name2_2=XRN1;refseq.name_1=NM_001042604;refseq.name_2=NM_019001;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1137N;refseq.proteinCoordStr_2=p.D1137N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=143561449;refseq.start_2=143561449;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr3 143606531 . C T 162.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=2.60;MQ=98.95;MQ0=0;OQ=6401.58;QD=21.55;RankSumP=0.444608;SB=-2643.63;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1791G>A;refseq.codingCoordStr_2=c.1791G>A;refseq.codonCoord_1=597;refseq.codonCoord_2=597;refseq.end_1=143606531;refseq.end_2=143606531;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1858;refseq.mrnaCoord_2=1858;refseq.name2_1=XRN1;refseq.name2_2=XRN1;refseq.name_1=NM_001042604;refseq.name_2=NM_019001;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E597E;refseq.proteinCoordStr_2=p.E597E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=143606531;refseq.start_2=143606531;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr3 143651021 . C T 100.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=13701.39;QD=44.06;RankSumP=1.00000;SB=-6600.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.7875G>A;refseq.codonCoord=2625;refseq.end=143651021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7997;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2625Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=114;refseq.start=143651021;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr3 143660834 . C T 259.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.81;MQ0=0;OQ=3135.80;QD=20.36;RankSumP=0.290544;SB=-1539.03;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.7274G>A;refseq.codonCoord=2425;refseq.end=143660834;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7396;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2425Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-76;refseq.start=143660834;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr3 143671027 . A C 242.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=10.61;MQ=98.67;MQ0=0;OQ=4854.08;QD=18.81;RankSumP=0.442259;SB=-1559.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.6394T>G;refseq.codonCoord=2132;refseq.end=143671027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6516;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2132D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=75;refseq.start=143671027;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr3 143700227 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=98.81;MQ0=0;OQ=1195.47;QD=12.99;RankSumP=0.00266162;SB=-617.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.5460T>C;refseq.codonCoord=1820;refseq.end=143700227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5582;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1820Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=80;refseq.start=143700227;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 0/1 chr3 143760265 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=799;Dels=0.00;HRun=1;HaplotypeScore=14.70;MQ=98.73;MQ0=0;OQ=15754.47;QD=19.72;RankSumP=0.188102;SB=-3927.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1776T>A;refseq.codonCoord=592;refseq.end=143760265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G592G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=44;refseq.start=143760265;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr3 143764302 . A G 198.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.51;MQ0=0;OQ=1471.23;QD=17.51;RankSumP=0.320148;SB=-250.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.632T>C;refseq.codonCoord=211;refseq.end=143764302;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_001184;refseq.name2=ATR;refseq.positionType=CDS;refseq.proteinCoordStr=p.M211T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=340;refseq.start=143764302;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr3 143887875 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.948A>C;refseq.codingCoordStr_2=c.948A>C;refseq.codingCoordStr_3=c.948A>C;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.codonCoord_3=316;refseq.end_1=143887875;refseq.end_2=143887875;refseq.end_3=143887875;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1107;refseq.mrnaCoord_2=1268;refseq.mrnaCoord_3=1123;refseq.name2_1=PLS1;refseq.name2_2=PLS1;refseq.name2_3=PLS1;refseq.name_1=NM_001145319;refseq.name_2=NM_001172312;refseq.name_3=NM_002670;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G316G;refseq.proteinCoordStr_2=p.G316G;refseq.proteinCoordStr_3=p.G316G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=143887875;refseq.start_2=143887875;refseq.start_3=143887875;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr3 143891296 . G A 349.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=98.54;MQ0=0;OQ=7458.01;QD=19.89;RankSumP=0.347873;SB=-2786.11;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1128G>A;refseq.codingCoordStr_2=c.1128G>A;refseq.codingCoordStr_3=c.1128G>A;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.codonCoord_3=376;refseq.end_1=143891296;refseq.end_2=143891296;refseq.end_3=143891296;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1287;refseq.mrnaCoord_2=1448;refseq.mrnaCoord_3=1303;refseq.name2_1=PLS1;refseq.name2_2=PLS1;refseq.name2_3=PLS1;refseq.name_1=NM_001145319;refseq.name_2=NM_001172312;refseq.name_3=NM_002670;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P376P;refseq.proteinCoordStr_2=p.P376P;refseq.proteinCoordStr_3=p.P376P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=143891296;refseq.start_2=143891296;refseq.start_3=143891296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/0 chr3 143986295 . G A 332.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=7.39;MQ=98.97;MQ0=0;OQ=7063.55;QD=19.84;RankSumP=0.0701710;SB=-2988.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.918G>A;refseq.codonCoord=306;refseq.end=143986295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1054;refseq.name=NM_003304;refseq.name2=TRPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S306S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=60;refseq.start=143986295;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 144006039 . G A 316.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=12.65;MQ=98.74;MQ0=0;OQ=6817.06;QD=17.17;RankSumP=0.280155;SB=-2353.08;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1929G>A;refseq.codonCoord=643;refseq.end=144006039;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2065;refseq.name=NM_003304;refseq.name2=TRPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T643T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=72;refseq.start=144006039;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr3 144007548 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=2;HaplotypeScore=1.83;MQ=98.77;MQ0=0;OQ=1851.04;QD=16.98;RankSumP=0.439366;SB=-496.93;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2061G>A;refseq.codonCoord=687;refseq.end=144007548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2197;refseq.name=NM_003304;refseq.name2=TRPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R687R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=144007548;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr3 144163939 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=321.76;QD=11.10;RankSumP=0.449442;SB=-128.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.930C>T;refseq.codonCoord=310;refseq.end=144163939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_198504;refseq.name2=PAQR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S310S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=930;refseq.start=144163939;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr3 144164036 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.833A>C;refseq.codonCoord=278;refseq.end=144164036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_198504;refseq.name2=PAQR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y278S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=833;refseq.start=144164036;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr3 147400451 . T C 334.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.73;MQ0=0;OQ=3033.08;QD=18.05;RankSumP=0.101563;SB=-1199.27;SecondBestBaseQ=34;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.codingCoordStr_5=c.463A>G;refseq.codingCoordStr_6=c.463A>G;refseq.codingCoordStr_7=c.463A>G;refseq.codonCoord_5=155;refseq.codonCoord_6=155;refseq.codonCoord_7=155;refseq.end_1=147406992;refseq.end_2=147406992;refseq.end_3=147400451;refseq.end_4=147400451;refseq.end_5=147400451;refseq.end_6=147400451;refseq.end_7=147400451;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_3=830;refseq.mrnaCoord_4=792;refseq.mrnaCoord_5=830;refseq.mrnaCoord_6=792;refseq.mrnaCoord_7=704;refseq.name2_1=PLSCR4;refseq.name2_2=PLSCR4;refseq.name2_3=PLSCR4;refseq.name2_4=PLSCR4;refseq.name2_5=PLSCR4;refseq.name2_6=PLSCR4;refseq.name2_7=PLSCR4;refseq.name_1=NM_001128306;refseq.name_2=NM_001177304;refseq.name_3=NR_033438;refseq.name_4=NR_033439;refseq.name_5=NM_001128304;refseq.name_6=NM_001128305;refseq.name_7=NM_020353;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.I155V;refseq.proteinCoordStr_6=p.I155V;refseq.proteinCoordStr_7=p.I155V;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.referenceCodon_7=ATT;refseq.spliceDist_3=66;refseq.spliceDist_4=66;refseq.spliceDist_5=66;refseq.spliceDist_6=66;refseq.spliceDist_7=66;refseq.start_1=147397281;refseq.start_2=147397281;refseq.start_3=147400451;refseq.start_4=147400451;refseq.start_5=147400451;refseq.start_6=147400451;refseq.start_7=147400451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=Intersection GT 1/0 chr3 147421309 . T C 220.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=98.54;MQ0=0;OQ=1054.67;QD=16.48;RankSumP=0.585080;SB=-268.56;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.codingCoordStr_3=c.101A>G;refseq.codingCoordStr_4=c.101A>G;refseq.codingCoordStr_5=c.101A>G;refseq.codingCoordStr_6=c.56A>G;refseq.codingCoordStr_7=c.101A>G;refseq.codonCoord_3=34;refseq.codonCoord_4=34;refseq.codonCoord_5=34;refseq.codonCoord_6=19;refseq.codonCoord_7=34;refseq.end_1=147421309;refseq.end_2=147421309;refseq.end_3=147421309;refseq.end_4=147421309;refseq.end_5=147421309;refseq.end_6=147421309;refseq.end_7=147421309;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=468;refseq.mrnaCoord_2=430;refseq.mrnaCoord_3=468;refseq.mrnaCoord_4=430;refseq.mrnaCoord_5=342;refseq.mrnaCoord_6=314;refseq.mrnaCoord_7=342;refseq.name2_1=PLSCR4;refseq.name2_2=PLSCR4;refseq.name2_3=PLSCR4;refseq.name2_4=PLSCR4;refseq.name2_5=PLSCR4;refseq.name2_6=PLSCR4;refseq.name2_7=PLSCR4;refseq.name_1=NR_033438;refseq.name_2=NR_033439;refseq.name_3=NM_001128304;refseq.name_4=NM_001128305;refseq.name_5=NM_001128306;refseq.name_6=NM_001177304;refseq.name_7=NM_020353;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.N34S;refseq.proteinCoordStr_4=p.N34S;refseq.proteinCoordStr_5=p.N34S;refseq.proteinCoordStr_6=p.N19S;refseq.proteinCoordStr_7=p.N34S;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.referenceCodon_7=AAT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.spliceDist_4=-18;refseq.spliceDist_5=-18;refseq.spliceDist_6=-18;refseq.spliceDist_7=-18;refseq.start_1=147421309;refseq.start_2=147421309;refseq.start_3=147421309;refseq.start_4=147421309;refseq.start_5=147421309;refseq.start_6=147421309;refseq.start_7=147421309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;refseq.variantCodon_7=AGT;set=Intersection GT 1/0 chr3 147729286 . G T 34.54 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=39;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=94.81;MQ0=0;QD=0.89;RankSumP=0.000105806;SB=11.07;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.117C>A;refseq.codonCoord=39;refseq.end=147729286;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_021105;refseq.name2=PLSCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y39*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=23;refseq.start=147729286;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr3 148591446 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=97.83;MQ0=0;OQ=981.44;QD=19.24;RankSumP=0.428212;SB=-312.17;SecondBestBaseQ=25;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_3=c.1116G>C;refseq.codingCoordStr_4=c.1080G>C;refseq.codingCoordStr_5=c.966G>C;refseq.codonCoord_3=372;refseq.codonCoord_4=360;refseq.codonCoord_5=322;refseq.end_1=148591446;refseq.end_2=148591446;refseq.end_3=148591446;refseq.end_4=148591446;refseq.end_5=148591446;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=706;refseq.mrnaCoord_2=652;refseq.mrnaCoord_3=1302;refseq.mrnaCoord_4=1129;refseq.mrnaCoord_5=1239;refseq.name2_1=ZIC4;refseq.name2_2=ZIC4;refseq.name2_3=ZIC4;refseq.name2_4=ZIC4;refseq.name2_5=ZIC4;refseq.name_1=NR_033118;refseq.name_2=NR_033119;refseq.name_3=NM_001168378;refseq.name_4=NM_001168379;refseq.name_5=NM_032153;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.S372S;refseq.proteinCoordStr_4=p.S360S;refseq.proteinCoordStr_5=p.S322S;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.spliceDist_5=-39;refseq.start_1=148591446;refseq.start_2=148591446;refseq.start_3=148591446;refseq.start_4=148591446;refseq.start_5=148591446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;set=Intersection GT 1/0 chr3 149942085 . C T 291.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=4.88;MQ=98.22;MQ0=0;OQ=5685.90;QD=41.20;RankSumP=1.00000;SB=-1709.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_1=c.573C>T;refseq.codingCoordStr_2=c.573C>T;refseq.codingCoordStr_3=c.573C>T;refseq.codingCoordStr_4=c.573C>T;refseq.codingCoordStr_5=c.573C>T;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.codonCoord_4=191;refseq.codonCoord_5=191;refseq.end_1=149942085;refseq.end_2=149942085;refseq.end_3=149942085;refseq.end_4=149942085;refseq.end_5=149942085;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=935;refseq.mrnaCoord_3=877;refseq.mrnaCoord_4=1019;refseq.mrnaCoord_5=835;refseq.name2_1=AGTR1;refseq.name2_2=AGTR1;refseq.name2_3=AGTR1;refseq.name2_4=AGTR1;refseq.name2_5=AGTR1;refseq.name_1=NM_000685;refseq.name_2=NM_004835;refseq.name_3=NM_009585;refseq.name_4=NM_031850;refseq.name_5=NM_032049;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L191L;refseq.proteinCoordStr_2=p.L191L;refseq.proteinCoordStr_3=p.L191L;refseq.proteinCoordStr_4=p.L191L;refseq.proteinCoordStr_5=p.L191L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_1=620;refseq.spliceDist_2=620;refseq.spliceDist_3=620;refseq.spliceDist_4=620;refseq.spliceDist_5=620;refseq.start_1=149942085;refseq.start_2=149942085;refseq.start_3=149942085;refseq.start_4=149942085;refseq.start_5=149942085;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;set=Intersection GT 1/1 chr3 150045000 . G A 321.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=2.46;MQ=98.92;MQ0=0;OQ=10978.81;QD=42.89;RankSumP=1.00000;SB=-4081.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.622G>A;refseq.codonCoord=208;refseq.end=150045000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=645;refseq.name=NM_001871;refseq.name2=CPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D208N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=46;refseq.start=150045000;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 150045944 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.822A>C;refseq.codonCoord=274;refseq.end=150045944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=845;refseq.name=NM_001871;refseq.name2=CPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G274G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=44;refseq.start=150045944;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr3 150080302 . C T 283.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.97;MQ0=0;OQ=14160.24;QD=40.11;RankSumP=1.00000;SB=-5966.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.512C>T;refseq.codonCoord=171;refseq.end=150080302;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_001870;refseq.name2=CPA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T171M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=38;refseq.start=150080302;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr3 150209823 . G A 231.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.10;MQ0=0;OQ=1969.26;QD=15.38;RankSumP=0.356871;SB=-521.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.552G>A;refseq.codonCoord=184;refseq.end=150209823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_004130;refseq.name2=GYG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P184P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-57;refseq.start=150209823;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr3 150226970 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.870C>T;refseq.codonCoord=290;refseq.end=150226970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_004130;refseq.name2=GYG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F290F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=150226970;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr3 150242015 . T C 361.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=98.83;MQ0=0;OQ=4590.93;QD=18.15;RankSumP=0.218021;SB=-1849.31;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2328A>G;refseq.codingCoordStr_2=c.2328A>G;refseq.codonCoord_1=776;refseq.codonCoord_2=776;refseq.end_1=150242015;refseq.end_2=150242015;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2546;refseq.mrnaCoord_2=2546;refseq.name2_1=HLTF;refseq.name2_2=HLTF;refseq.name_1=NM_003071;refseq.name_2=NM_139048;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A776A;refseq.proteinCoordStr_2=p.A776A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=150242015;refseq.start_2=150242015;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr3 150268798 . C T 154.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=98.94;MQ0=0;OQ=1324.39;QD=13.80;RankSumP=0.315676;SB=-402.80;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.909G>A;refseq.codingCoordStr_2=c.909G>A;refseq.codonCoord_1=303;refseq.codonCoord_2=303;refseq.end_1=150268798;refseq.end_2=150268798;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=1127;refseq.name2_1=HLTF;refseq.name2_2=HLTF;refseq.name_1=NM_003071;refseq.name_2=NM_139048;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T303T;refseq.proteinCoordStr_2=p.T303T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=150268798;refseq.start_2=150268798;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr3 150345841 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=2045.95;QD=11.83;RankSumP=0.318982;SB=-698.79;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.981A>G;refseq.codonCoord=327;refseq.end=150345841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_032383;refseq.name2=HPS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T327T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=11;refseq.start=150345841;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr3 150354030 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1305G>T;refseq.codonCoord=435;refseq.end=150354030;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1445;refseq.name=NM_032383;refseq.name2=HPS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L435F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=60;refseq.start=150354030;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr3 150355677 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1690.12;QD=13.00;RankSumP=0.0306048;SB=-697.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1494G>A;refseq.codonCoord=498;refseq.end=150355677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1634;refseq.name=NM_032383;refseq.name2=HPS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q498Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-16;refseq.start=150355677;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 150364363 . C T 217.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2080.10;QD=15.64;RankSumP=0.435463;SB=-1016.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2526C>T;refseq.codonCoord=842;refseq.end=150364363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2666;refseq.name=NM_032383;refseq.name2=HPS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H842H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=45;refseq.start=150364363;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr3 150398925 . T A 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=75.84;MQ0=46;OQ=4790.21;QD=27.69;RankSumP=1.00000;SB=-1076.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1632A>T;refseq.codonCoord=544;refseq.end=150398925;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1885;refseq.name=NM_000096;refseq.name2=CP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E544D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-82;refseq.start=150398925;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr3 150575928 . A G 117.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.23;MQ=98.82;MQ0=0;OQ=4398.88;QD=14.66;RankSumP=0.100422;SB=-1591.98;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.405T>C;refseq.codonCoord=135;refseq.end=150575928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_014220;refseq.name2=TM4SF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T135T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=150575928;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr3 150773403 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.506A>C;refseq.codingCoordStr_2=c.506A>C;refseq.codingCoordStr_3=c.506A>C;refseq.codonCoord_1=169;refseq.codonCoord_2=169;refseq.codonCoord_3=169;refseq.end_1=150773403;refseq.end_2=150773403;refseq.end_3=150773403;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=763;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=846;refseq.name2_1=WWTR1;refseq.name2_2=WWTR1;refseq.name2_3=WWTR1;refseq.name_1=NM_001168278;refseq.name_2=NM_001168280;refseq.name_3=NM_015472;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H169P;refseq.proteinCoordStr_2=p.H169P;refseq.proteinCoordStr_3=p.H169P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.start_1=150773403;refseq.start_2=150773403;refseq.start_3=150773403;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr3 150857563 . G T 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.63;MQ0=0;OQ=109.76;QD=6.10;RankSumP=0.500000;SB=5.03;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.221C>A;refseq.codingCoordStr_2=c.221C>A;refseq.codingCoordStr_3=c.221C>A;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.codonCoord_3=74;refseq.end_1=150857563;refseq.end_2=150857563;refseq.end_3=150857563;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=478;refseq.mrnaCoord_2=425;refseq.mrnaCoord_3=561;refseq.name2_1=WWTR1;refseq.name2_2=WWTR1;refseq.name2_3=WWTR1;refseq.name_1=NM_001168278;refseq.name_2=NM_001168280;refseq.name_3=NM_015472;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P74Q;refseq.proteinCoordStr_2=p.P74Q;refseq.proteinCoordStr_3=p.P74Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-211;refseq.spliceDist_2=-211;refseq.spliceDist_3=-211;refseq.start_1=150857563;refseq.start_2=150857563;refseq.start_3=150857563;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 0/1 chr3 150942031 . A G 321.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=4.83;MQ=98.70;MQ0=0;OQ=12325.58;QD=42.07;RankSumP=1.00000;SB=-4330.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.567T>C;refseq.codonCoord=189;refseq.end=150942031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=614;refseq.name=NM_016094;refseq.name2=COMMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N189N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=165;refseq.start=150942031;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 150951220 . T G 322.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=99.00;MQ0=0;OQ=5484.85;QD=41.24;RankSumP=1.00000;SB=-2505.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.337A>C;refseq.codonCoord=113;refseq.end=150951220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_016094;refseq.name2=COMMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-66;refseq.start=150951220;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 151161224 . C T 122.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=2652.16;QD=14.57;RankSumP=0.176861;SB=-1039.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.789C>T;refseq.codingCoordStr_2=c.789C>T;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.end_1=151161224;refseq.end_2=151161224;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1573;refseq.mrnaCoord_2=1471;refseq.name2_1=RNF13;refseq.name2_2=RNF13;refseq.name_1=NM_007282;refseq.name_2=NM_183381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H263H;refseq.proteinCoordStr_2=p.H263H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=151161224;refseq.start_2=151161224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr3 151161513 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.411123;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1078G>A;refseq.codingCoordStr_2=c.1078G>A;refseq.codonCoord_1=360;refseq.codonCoord_2=360;refseq.end_1=151161513;refseq.end_2=151161513;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1862;refseq.mrnaCoord_2=1760;refseq.name2_1=RNF13;refseq.name2_2=RNF13;refseq.name_1=NM_007282;refseq.name_2=NM_183381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E360K;refseq.proteinCoordStr_2=p.E360K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=297;refseq.spliceDist_2=297;refseq.start_1=151161513;refseq.start_2=151161513;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap GT 1/0 chr3 151161552 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.361521;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1117C>T;refseq.codingCoordStr_2=c.1117C>T;refseq.codonCoord_1=373;refseq.codonCoord_2=373;refseq.end_1=151161552;refseq.end_2=151161552;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1901;refseq.mrnaCoord_2=1799;refseq.name2_1=RNF13;refseq.name2_2=RNF13;refseq.name_1=NM_007282;refseq.name_2=NM_183381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R373W;refseq.proteinCoordStr_2=p.R373W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=336;refseq.spliceDist_2=336;refseq.start_1=151161552;refseq.start_2=151161552;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=soap GT 0/1 chr3 151611082 . G A 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=93.22;MQ0=0;OQ=147.31;QD=12.28;RankSumP=0.265152;SB=-37.54;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1255G>A;refseq.codonCoord=419;refseq.end=151611082;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_014779;refseq.name2=TSC22D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A419T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-704;refseq.start=151611082;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr3 152494945 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.779T>G;refseq.codonCoord_2=260;refseq.end_1=152550526;refseq.end_2=152494945;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1140;refseq.name2_1=MED12L;refseq.name2_2=GPR87;refseq.name_1=NM_053002;refseq.name_2=NM_023915;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V260G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-380;refseq.start_1=152394154;refseq.start_2=152494945;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr3 152495187 . T C 137.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=18.76;MQ=98.86;MQ0=0;OQ=8264.31;QD=15.68;RankSumP=0.282746;SB=-3251.62;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.537A>G;refseq.codonCoord_2=179;refseq.end_1=152550526;refseq.end_2=152495187;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=898;refseq.name2_1=MED12L;refseq.name2_2=GPR87;refseq.name_1=NM_053002;refseq.name_2=NM_023915;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L179L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_2=503;refseq.start_1=152394154;refseq.start_2=152495187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr3 152495212 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.512T>G;refseq.codonCoord_2=171;refseq.end_1=152550526;refseq.end_2=152495212;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=873;refseq.name2_1=MED12L;refseq.name2_2=GPR87;refseq.name_1=NM_053002;refseq.name_2=NM_023915;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V171G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=478;refseq.start_1=152394154;refseq.start_2=152495212;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr3 152528998 . G A 337.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.64;MQ0=0;OQ=2791.42;QD=17.13;RankSumP=0.415024;SB=-1320.30;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.536C>T;refseq.codonCoord_2=179;refseq.end_1=152550526;refseq.end_2=152528998;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=557;refseq.name2_1=MED12L;refseq.name2_2=P2RY13;refseq.name_1=NM_053002;refseq.name_2=NM_176894;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T179M;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=488;refseq.start_1=152394154;refseq.start_2=152528998;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr3 152539288 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.96;MQ0=0;OQ=2941.82;QD=13.62;RankSumP=0.121395;SB=-1158.44;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.36T>G;refseq.codingCoordStr_3=c.36T>G;refseq.codonCoord_2=12;refseq.codonCoord_3=12;refseq.end_1=152550526;refseq.end_2=152539288;refseq.end_3=152539288;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=280;refseq.mrnaCoord_3=252;refseq.name2_1=MED12L;refseq.name2_2=P2RY12;refseq.name2_3=P2RY12;refseq.name_1=NM_053002;refseq.name_2=NM_022788;refseq.name_3=NM_176876;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G12G;refseq.proteinCoordStr_3=p.G12G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=152394154;refseq.start_2=152539288;refseq.start_3=152539288;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr3 152539306 . G A 150.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=99.00;MQ0=0;OQ=2646.71;QD=12.85;RankSumP=0.0567843;SB=-624.62;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.18C>T;refseq.codingCoordStr_3=c.18C>T;refseq.codonCoord_2=6;refseq.codonCoord_3=6;refseq.end_1=152550526;refseq.end_2=152539306;refseq.end_3=152539306;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=262;refseq.mrnaCoord_3=234;refseq.name2_1=MED12L;refseq.name2_2=P2RY12;refseq.name2_3=P2RY12;refseq.name_1=NM_053002;refseq.name_2=NM_022788;refseq.name_3=NM_176876;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N6N;refseq.proteinCoordStr_3=p.N6N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.start_1=152394154;refseq.start_2=152539306;refseq.start_3=152539306;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr3 152566402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.3155T>G;refseq.codonCoord_2=1052;refseq.end_1=152585159;refseq.end_2=152566402;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3193;refseq.name2_1=P2RY12;refseq.name2_2=MED12L;refseq.name_1=NM_022788;refseq.name_2=NM_053002;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V1052G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=-68;refseq.start_1=152541249;refseq.start_2=152566402;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr3 152595258 . G A 362.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.67;MQ0=0;OQ=5638.12;QD=18.55;RankSumP=0.0698684;SB=-2203.82;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.5628G>A;refseq.codonCoord=1876;refseq.end=152595258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5666;refseq.name=NM_053002;refseq.name2=MED12L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1876S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-88;refseq.start=152595258;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr3 152637356 . T C 307.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.95;MQ0=0;OQ=3011.58;QD=17.01;RankSumP=0.490850;SB=-907.08;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.7683A>G;refseq.codonCoord=2561;refseq.end=152637356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7683;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2561T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-190;refseq.start=152637356;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr3 152638310 . G A 318.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=98.91;MQ0=0;OQ=7635.09;QD=19.99;RankSumP=0.373050;SB=-3192.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.6729C>T;refseq.codonCoord=2243;refseq.end=152638310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6729;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2243N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=766;refseq.start=152638310;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr3 152648368 . T C 153.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=17.81;MQ=99.00;MQ0=0;OQ=4088.77;QD=21.30;RankSumP=0.442373;SB=-1426.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2091A>G;refseq.codonCoord=697;refseq.end=152648368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2091;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q697Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1376;refseq.start=152648368;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr3 152649112 . C T 196.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=98.68;MQ0=0;OQ=6373.47;QD=22.44;RankSumP=0.219909;SB=-1569.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1347G>A;refseq.codonCoord=449;refseq.end=152649112;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q449Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=632;refseq.start=152649112;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr3 152654129 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=734.14;QD=12.66;RankSumP=0.477319;SB=-197.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.448T>G;refseq.codonCoord=150;refseq.end=152654129;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y150D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=124;refseq.start=152654129;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr3 152654232 . A G 213.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=837.49;QD=15.80;RankSumP=0.655943;SB=-366.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.345T>C;refseq.codonCoord=115;refseq.end=152654232;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_178822;refseq.name2=IGSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N115N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=21;refseq.start=152654232;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr3 152946111 . G T 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=97.93;MQ0=0;OQ=8281.78;QD=39.82;RankSumP=1.00000;SB=-3649.37;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.556G>T;refseq.codonCoord=186;refseq.end=152946111;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_207365;refseq.name2=AADACL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A186S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-48;refseq.start=152946111;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr3 153028291 . G A 287.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=9569.75;QD=42.16;RankSumP=1.00000;SB=-4494.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.841G>A;refseq.codonCoord=281;refseq.end=153028291;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_001086;refseq.name2=AADAC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V281I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=238;refseq.start=153028291;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr3 153081165 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.144C>A;refseq.codonCoord=48;refseq.end=153081165;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_033050;refseq.name2=SUCNR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y48*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=129;refseq.start=153081165;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr3 153541139 . A G 250.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=8.14;MQ=98.55;MQ0=0;OQ=9685.70;QD=41.04;RankSumP=1.00000;SB=-4482.07;SecondBestBaseQ=0;refseq.changesAA_8=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.chr_8=chr3;refseq.codingCoordStr_8=c.245T>C;refseq.codonCoord_8=82;refseq.end_1=153615409;refseq.end_2=153615409;refseq.end_3=153615409;refseq.end_4=153615409;refseq.end_5=153615409;refseq.end_6=153615409;refseq.end_7=153615409;refseq.end_8=153541139;refseq.frame_8=1;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.mrnaCoord_8=331;refseq.name2_1=MBNL1;refseq.name2_2=MBNL1;refseq.name2_3=MBNL1;refseq.name2_4=MBNL1;refseq.name2_5=MBNL1;refseq.name2_6=MBNL1;refseq.name2_7=MBNL1;refseq.name2_8=TMEM14E;refseq.name_1=NM_021038;refseq.name_2=NM_207292;refseq.name_3=NM_207293;refseq.name_4=NM_207294;refseq.name_5=NM_207295;refseq.name_6=NM_207296;refseq.name_7=NM_207297;refseq.name_8=NM_001123228;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=CDS;refseq.proteinCoordStr_8=p.L82P;refseq.referenceAA_8=Leu;refseq.referenceCodon_8=CTA;refseq.spliceDist_8=331;refseq.start_1=153500857;refseq.start_2=153500857;refseq.start_3=153500857;refseq.start_4=153500857;refseq.start_5=153500857;refseq.start_6=153500857;refseq.start_7=153500857;refseq.start_8=153541139;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=-;refseq.variantAA_8=Pro;refseq.variantCodon_8=CCA;set=Intersection GT 1/1 chr3 153656766 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.codingCoordStr_2=c.1018A>C;refseq.codingCoordStr_3=c.982A>C;refseq.codingCoordStr_4=c.1036A>C;refseq.codingCoordStr_5=c.778A>C;refseq.codingCoordStr_6=c.814A>C;refseq.codingCoordStr_7=c.828A>C;refseq.codonCoord_2=340;refseq.codonCoord_3=328;refseq.codonCoord_4=346;refseq.codonCoord_5=260;refseq.codonCoord_6=272;refseq.codonCoord_7=276;refseq.end_1=153659739;refseq.end_2=153656766;refseq.end_3=153656766;refseq.end_4=153656766;refseq.end_5=153656766;refseq.end_6=153656766;refseq.end_7=153656766;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=2860;refseq.mrnaCoord_3=2824;refseq.mrnaCoord_4=1825;refseq.mrnaCoord_5=1567;refseq.mrnaCoord_6=1603;refseq.mrnaCoord_7=1617;refseq.name2_1=MBNL1;refseq.name2_2=MBNL1;refseq.name2_3=MBNL1;refseq.name2_4=MBNL1;refseq.name2_5=MBNL1;refseq.name2_6=MBNL1;refseq.name2_7=MBNL1;refseq.name_1=NM_207297;refseq.name_2=NM_021038;refseq.name_3=NM_207292;refseq.name_4=NM_207293;refseq.name_5=NM_207294;refseq.name_6=NM_207295;refseq.name_7=NM_207296;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.T340P;refseq.proteinCoordStr_3=p.T328P;refseq.proteinCoordStr_4=p.T346P;refseq.proteinCoordStr_5=p.T260P;refseq.proteinCoordStr_6=p.T272P;refseq.proteinCoordStr_7=p.L276L;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Leu;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=CTA;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.spliceDist_5=21;refseq.spliceDist_6=21;refseq.spliceDist_7=21;refseq.start_1=153656067;refseq.start_2=153656766;refseq.start_3=153656766;refseq.start_4=153656766;refseq.start_5=153656766;refseq.start_6=153656766;refseq.start_7=153656766;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Leu;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;refseq.variantCodon_6=CCG;refseq.variantCodon_7=CTC;set=FilteredInAll GT 0/1 chr3 153656768 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.codingCoordStr_2=c.1020G>C;refseq.codingCoordStr_3=c.984G>C;refseq.codingCoordStr_4=c.1038G>C;refseq.codingCoordStr_5=c.780G>C;refseq.codingCoordStr_6=c.816G>C;refseq.codingCoordStr_7=c.830G>C;refseq.codonCoord_2=340;refseq.codonCoord_3=328;refseq.codonCoord_4=346;refseq.codonCoord_5=260;refseq.codonCoord_6=272;refseq.codonCoord_7=277;refseq.end_1=153659739;refseq.end_2=153656768;refseq.end_3=153656768;refseq.end_4=153656768;refseq.end_5=153656768;refseq.end_6=153656768;refseq.end_7=153656768;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=1;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=2862;refseq.mrnaCoord_3=2826;refseq.mrnaCoord_4=1827;refseq.mrnaCoord_5=1569;refseq.mrnaCoord_6=1605;refseq.mrnaCoord_7=1619;refseq.name2_1=MBNL1;refseq.name2_2=MBNL1;refseq.name2_3=MBNL1;refseq.name2_4=MBNL1;refseq.name2_5=MBNL1;refseq.name2_6=MBNL1;refseq.name2_7=MBNL1;refseq.name_1=NM_207297;refseq.name_2=NM_021038;refseq.name_3=NM_207292;refseq.name_4=NM_207293;refseq.name_5=NM_207294;refseq.name_6=NM_207295;refseq.name_7=NM_207296;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.T340T;refseq.proteinCoordStr_3=p.T328T;refseq.proteinCoordStr_4=p.T346T;refseq.proteinCoordStr_5=p.T260T;refseq.proteinCoordStr_6=p.T272T;refseq.proteinCoordStr_7=p.R277P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Arg;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=CGC;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.spliceDist_5=23;refseq.spliceDist_6=23;refseq.spliceDist_7=23;refseq.start_1=153656067;refseq.start_2=153656768;refseq.start_3=153656768;refseq.start_4=153656768;refseq.start_5=153656768;refseq.start_6=153656768;refseq.start_7=153656768;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Pro;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=CCC;set=FilteredInAll GT 0/1 chr3 153656823 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.codingCoordStr_2=c.1075A>C;refseq.codingCoordStr_3=c.1039A>C;refseq.codingCoordStr_4=c.1093A>C;refseq.codingCoordStr_5=c.835A>C;refseq.codingCoordStr_6=c.871A>C;refseq.codingCoordStr_7=c.885A>C;refseq.codonCoord_2=359;refseq.codonCoord_3=347;refseq.codonCoord_4=365;refseq.codonCoord_5=279;refseq.codonCoord_6=291;refseq.codonCoord_7=295;refseq.end_1=153659739;refseq.end_2=153656823;refseq.end_3=153656823;refseq.end_4=153656823;refseq.end_5=153656823;refseq.end_6=153656823;refseq.end_7=153656823;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=2917;refseq.mrnaCoord_3=2881;refseq.mrnaCoord_4=1882;refseq.mrnaCoord_5=1624;refseq.mrnaCoord_6=1660;refseq.mrnaCoord_7=1674;refseq.name2_1=MBNL1;refseq.name2_2=MBNL1;refseq.name2_3=MBNL1;refseq.name2_4=MBNL1;refseq.name2_5=MBNL1;refseq.name2_6=MBNL1;refseq.name2_7=MBNL1;refseq.name_1=NM_207297;refseq.name_2=NM_021038;refseq.name_3=NM_207292;refseq.name_4=NM_207293;refseq.name_5=NM_207294;refseq.name_6=NM_207295;refseq.name_7=NM_207296;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.T359P;refseq.proteinCoordStr_3=p.T347P;refseq.proteinCoordStr_4=p.T365P;refseq.proteinCoordStr_5=p.T279P;refseq.proteinCoordStr_6=p.T291P;refseq.proteinCoordStr_7=p.Q295H;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Gln;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=CAA;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.spliceDist_4=-18;refseq.spliceDist_5=-18;refseq.spliceDist_6=-18;refseq.spliceDist_7=-18;refseq.start_1=153656067;refseq.start_2=153656823;refseq.start_3=153656823;refseq.start_4=153656823;refseq.start_5=153656823;refseq.start_6=153656823;refseq.start_7=153656823;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=His;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CAC;set=FilteredInAll GT 0/1 chr3 154037047 . A G 387.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=8356.26;QD=41.57;RankSumP=1.00000;SB=-3327.07;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.786A>G;refseq.codonCoord=262;refseq.end=154037047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1622;refseq.name=NM_002563;refseq.name2=P2RY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V262V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-1487;refseq.start=154037047;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 156724434 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=945;Dels=0.00;HRun=1;HaplotypeScore=25.41;MQ=98.82;MQ0=0;OQ=36501.50;QD=38.63;RankSumP=1.00000;SB=-17729.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1380T>C;refseq.codingCoordStr_2=c.1380T>C;refseq.codingCoordStr_3=c.1326T>C;refseq.codonCoord_1=460;refseq.codonCoord_2=460;refseq.codonCoord_3=442;refseq.end_1=156724434;refseq.end_2=156724434;refseq.end_3=156724434;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1657;refseq.mrnaCoord_2=1657;refseq.mrnaCoord_3=1400;refseq.name2_1=PLCH1;refseq.name2_2=PLCH1;refseq.name2_3=PLCH1;refseq.name_1=NM_001130960;refseq.name_2=NM_001130961;refseq.name_3=NM_014996;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S460S;refseq.proteinCoordStr_2=p.S460S;refseq.proteinCoordStr_3=p.S442S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=156724434;refseq.start_2=156724434;refseq.start_3=156724434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=soap-filterIngatk GT 1/1 chr3 156796728 . A G 219.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.77;MQ0=0;OQ=2058.53;QD=15.96;RankSumP=0.272668;SB=-585.27;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.177T>C;refseq.codingCoordStr_2=c.177T>C;refseq.codingCoordStr_3=c.123T>C;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.codonCoord_3=41;refseq.end_1=156796728;refseq.end_2=156796728;refseq.end_3=156796728;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=454;refseq.mrnaCoord_2=454;refseq.mrnaCoord_3=197;refseq.name2_1=PLCH1;refseq.name2_2=PLCH1;refseq.name2_3=PLCH1;refseq.name_1=NM_001130960;refseq.name_2=NM_001130961;refseq.name_3=NM_014996;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S59S;refseq.proteinCoordStr_2=p.S59S;refseq.proteinCoordStr_3=p.S41S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=156796728;refseq.start_2=156796728;refseq.start_3=156796728;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr3 157028818 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.62;MQ0=74;OQ=658.97;QD=5.07;RankSumP=0.621983;SB=-351.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1525G>A;refseq.codonCoord=509;refseq.end=157028818;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1906;refseq.name=NM_004733;refseq.name2=SLC33A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G509S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=43;refseq.start=157028818;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 0/1 chr3 157878947 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.767A>G;refseq.codonCoord=256;refseq.end=157878947;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_015508;refseq.name2=TIPARP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D256G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-151;refseq.start=157878947;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr3 158246136 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1982T>C;refseq.codonCoord=661;refseq.end=158246136;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2096;refseq.name=NM_001004316;refseq.name2=LEKR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L661P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=314;refseq.start=158246136;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 158581637 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1127+2;refseq.codingCoordStr_2=c.1127+2;refseq.codingCoordStr_3=c.1127+2;refseq.end_1=158581637;refseq.end_2=158581637;refseq.end_3=158581637;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=VEPH1;refseq.name2_2=VEPH1;refseq.name2_3=VEPH1;refseq.name_1=NM_001167911;refseq.name_2=NM_001167912;refseq.name_3=NM_024621;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=158581637;refseq.start_2=158581637;refseq.start_3=158581637;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr3 158638008 . C A 241.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.93;MQ0=0;OQ=1422.62;QD=16.94;RankSumP=0.486788;SB=-695.61;SecondBestBaseQ=31;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_4=c.143C>A;refseq.codonCoord_4=48;refseq.end_1=158660653;refseq.end_2=158660653;refseq.end_3=158660653;refseq.end_4=158638008;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=286;refseq.name2_1=VEPH1;refseq.name2_2=VEPH1;refseq.name2_3=VEPH1;refseq.name2_4=PTX3;refseq.name_1=NM_001167911;refseq.name_2=NM_001167912;refseq.name_3=NM_024621;refseq.name_4=NM_002852;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.A48D;refseq.referenceAA_4=Ala;refseq.referenceCodon_4=GCC;refseq.spliceDist_4=13;refseq.start_1=158628982;refseq.start_2=158628982;refseq.start_3=158628982;refseq.start_4=158638008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Asp;refseq.variantCodon_4=GAC;set=Intersection GT 1/0 chr3 159803291 . T C 224.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.00;MQ0=0;OQ=1506.05;QD=17.31;RankSumP=0.492565;SB=-603.99;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.495T>C;refseq.codingCoordStr_2=c.495T>C;refseq.codingCoordStr_3=c.570T>C;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.codonCoord_3=190;refseq.end_1=159803291;refseq.end_2=159803291;refseq.end_3=159803291;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=751;refseq.mrnaCoord_2=824;refseq.mrnaCoord_3=707;refseq.name2_1=MLF1;refseq.name2_2=MLF1;refseq.name2_3=MLF1;refseq.name_1=NM_001130156;refseq.name_2=NM_001130157;refseq.name_3=NM_022443;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S165S;refseq.proteinCoordStr_2=p.S165S;refseq.proteinCoordStr_3=p.S190S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=159803291;refseq.start_2=159803291;refseq.start_3=159803291;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/0 chr3 159803397 . C A 153.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=97.89;MQ0=0;OQ=1931.31;QD=20.77;RankSumP=0.429891;SB=-770.58;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.601C>A;refseq.codingCoordStr_2=c.601C>A;refseq.codingCoordStr_3=c.676C>A;refseq.codonCoord_1=201;refseq.codonCoord_2=201;refseq.codonCoord_3=226;refseq.end_1=159803397;refseq.end_2=159803397;refseq.end_3=159803397;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=857;refseq.mrnaCoord_2=930;refseq.mrnaCoord_3=813;refseq.name2_1=MLF1;refseq.name2_2=MLF1;refseq.name2_3=MLF1;refseq.name_1=NM_001130156;refseq.name_2=NM_001130157;refseq.name_3=NM_022443;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P201T;refseq.proteinCoordStr_2=p.P201T;refseq.proteinCoordStr_3=p.P226T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=159803397;refseq.start_2=159803397;refseq.start_3=159803397;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/0 chr3 159845135 . T C 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.30;MQ0=0;OQ=127.71;QD=5.32;RankSumP=0.483046;SB=-41.94;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.18T>C;refseq.codonCoord=6;refseq.end=159845135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_024996;refseq.name2=GFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-64;refseq.start=159845135;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr3 159849594 . G A 332.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=98.73;MQ0=0;OQ=8579.76;QD=19.59;RankSumP=0.434218;SB=-2660.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.643G>A;refseq.codonCoord=215;refseq.end=159849594;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_024996;refseq.name2=GFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V215I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-47;refseq.start=159849594;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr3 159865856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1417T>G;refseq.codonCoord=473;refseq.end=159865856;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_024996;refseq.name2=GFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F473V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=37;refseq.start=159865856;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr3 159871474 . T C 243.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.30;MQ0=0;OQ=1681.53;QD=17.52;RankSumP=0.152700;SB=-480.07;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.158A>G;refseq.codonCoord_2=53;refseq.end_1=159882467;refseq.end_2=159871474;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=373;refseq.name2_1=GFM1;refseq.name2_2=LXN;refseq.name_1=NM_024996;refseq.name_2=NM_020169;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H53R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=29;refseq.start_1=159866880;refseq.start_2=159871474;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr3 159890691 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1955T>G;refseq.codonCoord=652;refseq.end=159890691;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2062;refseq.name=NM_024996;refseq.name2=GFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V652G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=46;refseq.start=159890691;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 159911336 . G A 338.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=11.56;MQ=98.82;MQ0=0;OQ=8754.96;QD=17.65;RankSumP=0.319289;SB=-2082.63;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.420C>T;refseq.codingCoordStr_2=c.420C>T;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=159911336;refseq.end_2=159911336;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=RARRES1;refseq.name2_2=RARRES1;refseq.name_1=NM_002888;refseq.name_2=NM_206963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T140T;refseq.proteinCoordStr_2=p.T140T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=159911336;refseq.start_2=159911336;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr3 159914342 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=8.67531e-09;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.277A>C;refseq.codingCoordStr_2=c.277A>C;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=159914342;refseq.end_2=159914342;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=348;refseq.mrnaCoord_2=348;refseq.name2_1=RARRES1;refseq.name2_2=RARRES1;refseq.name_1=NM_002888;refseq.name_2=NM_206963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I93L;refseq.proteinCoordStr_2=p.I93L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=159914342;refseq.start_2=159914342;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=FilteredInAll GT 1/0 chr3 159932659 . T C 49.28 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=16.43;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.240A>G;refseq.codingCoordStr_2=c.240A>G;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.end_1=159932659;refseq.end_2=159932659;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=311;refseq.mrnaCoord_2=311;refseq.name2_1=RARRES1;refseq.name2_2=RARRES1;refseq.name_1=NM_002888;refseq.name_2=NM_206963;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L80L;refseq.proteinCoordStr_2=p.L80L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=159932659;refseq.start_2=159932659;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 1/1 chr3 160002705 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=97.93;MQ0=0;OQ=567.96;QD=12.91;RankSumP=0.616601;SB=-203.87;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.217C>T;refseq.codingCoordStr_2=c.217C>T;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=160002705;refseq.end_2=160002705;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=297;refseq.name2_1=MFSD1;refseq.name2_2=MFSD1;refseq.name_1=NM_001167903;refseq.name_2=NM_022736;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P73S;refseq.proteinCoordStr_2=p.P73S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.start_1=160002705;refseq.start_2=160002705;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr3 160020137 . A G 176.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.01;HRun=0;HaplotypeScore=9.28;MQ=96.70;MQ0=0;OQ=3939.17;QD=36.14;RankSumP=1.00000;SB=-734.30;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.688A>G;refseq.codingCoordStr_2=c.805A>G;refseq.codonCoord_1=230;refseq.codonCoord_2=269;refseq.end_1=160020137;refseq.end_2=160020137;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=768;refseq.mrnaCoord_2=885;refseq.name2_1=MFSD1;refseq.name2_2=MFSD1;refseq.name_1=NM_001167903;refseq.name_2=NM_022736;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I230V;refseq.proteinCoordStr_2=p.I269V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=160020137;refseq.start_2=160020137;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr3 160965368 . C T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0952381;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.506C>T;refseq.codonCoord=169;refseq.end=160965368;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_014575;refseq.name2=SCHIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-254;refseq.start=160965368;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr3 161190666 . C A 56 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.21479e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.137C>A;refseq.codonCoord=46;refseq.end=161190666;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_000882;refseq.name2=IL12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=19;refseq.start=161190666;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr3 161614041 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=96.11;MQ0=0;OQ=656.32;QD=13.96;RankSumP=0.750000;SB=-264.56;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1067A>G;refseq.codingCoordStr_2=c.1067A>G;refseq.codonCoord_1=356;refseq.codonCoord_2=356;refseq.end_1=161614041;refseq.end_2=161614041;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1335;refseq.name2_1=SMC4;refseq.name2_2=SMC4;refseq.name_1=NM_001002800;refseq.name_2=NM_005496;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N356S;refseq.proteinCoordStr_2=p.N356S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=161614041;refseq.start_2=161614041;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr3 161632881 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.3414T>G;refseq.codingCoordStr_2=c.3414T>G;refseq.codonCoord_1=1138;refseq.codonCoord_2=1138;refseq.end_1=161632881;refseq.end_2=161632881;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3527;refseq.mrnaCoord_2=3682;refseq.name2_1=SMC4;refseq.name2_2=SMC4;refseq.name_1=NM_001002800;refseq.name_2=NM_005496;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1138G;refseq.proteinCoordStr_2=p.G1138G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-117;refseq.spliceDist_2=-117;refseq.start_1=161632881;refseq.start_2=161632881;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr3 161710300 . A G 179.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=17.10;MQ=98.62;MQ0=0;OQ=7521.86;QD=22.39;RankSumP=0.379731;SB=-2039.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1191T>C;refseq.codonCoord=397;refseq.end=161710300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1497;refseq.name=NM_002268;refseq.name2=KPNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I397I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-19;refseq.start=161710300;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr3 166197226 . C T 344.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=1160.61;QD=41.45;RankSumP=1.00000;SB=-487.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.4569G>A;refseq.codonCoord=1523;refseq.end=166197226;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4632;refseq.name=NM_001041;refseq.name2=SI;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1523I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=166197226;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr3 166247413 . C A 426.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.87;MQ0=0;OQ=12193.52;QD=40.78;RankSumP=1.00000;SB=-3335.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1797G>T;refseq.codonCoord=599;refseq.end=166247413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1860;refseq.name=NM_001041;refseq.name2=SI;refseq.positionType=CDS;refseq.proteinCoordStr=p.A599A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=82;refseq.start=166247413;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr3 166255751 . G A 177.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=11.91;MQ=98.60;MQ0=0;OQ=20582.88;QD=42.70;RankSumP=1.00000;SB=-8064.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1437C>T;refseq.codonCoord=479;refseq.end=166255751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1500;refseq.name=NM_001041;refseq.name2=SI;refseq.positionType=CDS;refseq.proteinCoordStr=p.N479N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=39;refseq.start=166255751;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr3 166265859 . T C 379.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=99.00;MQ0=0;OQ=3734.03;QD=41.03;RankSumP=1.00000;SB=-1005.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.691A>G;refseq.codonCoord=231;refseq.end=166265859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_001041;refseq.name2=SI;refseq.positionType=CDS;refseq.proteinCoordStr=p.T231A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=56;refseq.start=166265859;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 166973974 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1959.18;QD=20.84;RankSumP=0.168497;SB=-576.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1699G>A;refseq.codonCoord=567;refseq.end=166973974;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1859;refseq.name=NM_000055;refseq.name2=BCHE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A567T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=15;refseq.start=166973974;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 168482950 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.55;MQ0=0;OQ=658.73;QD=17.34;RankSumP=0.639458;SB=-179.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1907C>G;refseq.codonCoord=636;refseq.end=168482950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2230;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.A636G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=28;refseq.start=168482950;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr3 168506187 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=2968.63;QD=18.10;RankSumP=0.367807;SB=-1431.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1663G>A;refseq.codonCoord=555;refseq.end=168506187;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1986;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E555K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-63;refseq.start=168506187;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr3 168506318 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=744.73;QD=15.52;RankSumP=0.117802;SB=-325.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1532T>C;refseq.codonCoord=511;refseq.end=168506318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1855;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.I511T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=115;refseq.start=168506318;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 168506432 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=98.51;MQ0=0;OQ=661.67;QD=15.04;RankSumP=0.505268;SB=-177.78;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1418C>G;refseq.codonCoord=473;refseq.end=168506432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1741;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.A473G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=168506432;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr3 168517508 . T C 331.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.72;MQ0=0;OQ=7045.46;QD=21.48;RankSumP=0.378274;SB=-2277.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1173A>G;refseq.codonCoord=391;refseq.end=168517508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.L391L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-22;refseq.start=168517508;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr3 168534420 . A G 145.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1523.22;QD=14.51;RankSumP=0.288965;SB=-440.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.576T>C;refseq.codonCoord=192;refseq.end=168534420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.F192F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=48;refseq.start=168534420;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr3 168534463 . T C 151.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=1037.19;QD=20.34;RankSumP=0.396641;SB=-182.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.533A>G;refseq.codonCoord=178;refseq.end=168534463;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.K178R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=168534463;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr3 168550950 . T A 109.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=480;Dels=0.00;HRun=0;HaplotypeScore=23.63;MQ=98.79;MQ0=0;OQ=9196.61;QD=19.16;RankSumP=0.275754;SB=-3121.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.480A>T;refseq.codonCoord=160;refseq.end=168550950;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.K160N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=48;refseq.start=168550950;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr3 168560385 . T A 104.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=9.64;MQ=98.81;MQ0=0;OQ=8647.57;QD=40.60;RankSumP=1.00000;SB=-3466.19;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.399A>T;refseq.codonCoord=133;refseq.end=168560385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_024687;refseq.name2=ZBBX;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-34;refseq.start=168560385;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr3 168649880 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.89;MQ0=0;OQ=1308.57;QD=16.16;RankSumP=0.319732;SB=-197.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.969A>T;refseq.codonCoord=323;refseq.end=168649880;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_006217;refseq.name2=SERPINI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S323S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=168649880;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 168667572 . T C 222.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.95;MQ0=0;OQ=5133.43;QD=19.67;RankSumP=0.323911;SB=-1488.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.443A>G;refseq.codonCoord=148;refseq.end=168667572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_006217;refseq.name2=SERPINI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E148G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-36;refseq.start=168667572;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr3 168672301 . A C 254.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=98.29;MQ0=0;OQ=1980.17;QD=16.64;RankSumP=0.369436;SB=-763.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.16T>G;refseq.codonCoord=6;refseq.end=168672301;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=54;refseq.name=NM_006217;refseq.name2=SERPINI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L6V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=168672301;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr3 168700658 . A G 255.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=98.91;MQ0=0;OQ=4317.93;QD=18.61;RankSumP=0.0792782;SB=-1651.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1952T>C;refseq.codonCoord=651;refseq.end=168700658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2258;refseq.name=NM_178824;refseq.name2=WDR49;refseq.positionType=CDS;refseq.proteinCoordStr=p.L651P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-24;refseq.start=168700658;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr3 168989660 . C A 52 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=294;Dels=0.00;HRun=1;HaplotypeScore=29.60;MQ=98.34;MQ0=0;OQ=114.46;QD=0.39;RankSumP=1.09350e-09;SB=342.07;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.50C>A;refseq.codingCoordStr_2=c.50C>A;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=168989660;refseq.end_2=168989660;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=248;refseq.mrnaCoord_2=481;refseq.name2_1=SERPINI1;refseq.name2_2=SERPINI1;refseq.name_1=NM_001122752;refseq.name_2=NM_005025;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T17K;refseq.proteinCoordStr_2=p.T17K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=168989660;refseq.start_2=168989660;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr3 169229716 . C T 113.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=1.81;MQ=98.89;MQ0=0;OQ=6606.14;QD=22.17;RankSumP=0.363552;SB=-2072.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1502G>A;refseq.codonCoord=501;refseq.end=169229716;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1846;refseq.name=NM_014498;refseq.name2=GOLIM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G501E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-12;refseq.start=169229716;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr3 170289512 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.3186G>C;refseq.codingCoordStr_2=c.2991G>C;refseq.codingCoordStr_3=c.2967G>C;refseq.codingCoordStr_4=c.2964G>C;refseq.codingCoordStr_5=c.3555G>C;refseq.codingCoordStr_6=c.2991G>C;refseq.codonCoord_1=1062;refseq.codonCoord_2=997;refseq.codonCoord_3=989;refseq.codonCoord_4=988;refseq.codonCoord_5=1185;refseq.codonCoord_6=997;refseq.end_1=170289512;refseq.end_2=170289512;refseq.end_3=170289512;refseq.end_4=170289512;refseq.end_5=170289512;refseq.end_6=170289512;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=3325;refseq.mrnaCoord_2=3316;refseq.mrnaCoord_3=3236;refseq.mrnaCoord_4=4165;refseq.mrnaCoord_5=3958;refseq.mrnaCoord_6=3260;refseq.name2_1=MECOM;refseq.name2_2=MECOM;refseq.name2_3=MECOM;refseq.name2_4=MECOM;refseq.name2_5=MECOM;refseq.name2_6=MECOM;refseq.name_1=NM_001105077;refseq.name_2=NM_001105078;refseq.name_3=NM_001163999;refseq.name_4=NM_001164000;refseq.name_5=NM_004991;refseq.name_6=NM_005241;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.K1062N;refseq.proteinCoordStr_2=p.K997N;refseq.proteinCoordStr_3=p.K989N;refseq.proteinCoordStr_4=p.K988N;refseq.proteinCoordStr_5=p.K1185N;refseq.proteinCoordStr_6=p.K997N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.spliceDist_6=-31;refseq.start_1=170289512;refseq.start_2=170289512;refseq.start_3=170289512;refseq.start_4=170289512;refseq.start_5=170289512;refseq.start_6=170289512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;set=FilteredInAll GT 1/0 chr3 170316062 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.1923A>C;refseq.codingCoordStr_2=c.1728A>C;refseq.codingCoordStr_3=c.1731A>C;refseq.codingCoordStr_4=c.1728A>C;refseq.codingCoordStr_5=c.2292A>C;refseq.codingCoordStr_6=c.1728A>C;refseq.codonCoord_1=641;refseq.codonCoord_2=576;refseq.codonCoord_3=577;refseq.codonCoord_4=576;refseq.codonCoord_5=764;refseq.codonCoord_6=576;refseq.end_1=170316062;refseq.end_2=170316062;refseq.end_3=170316062;refseq.end_4=170316062;refseq.end_5=170316062;refseq.end_6=170316062;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2062;refseq.mrnaCoord_2=2053;refseq.mrnaCoord_3=2000;refseq.mrnaCoord_4=2929;refseq.mrnaCoord_5=2695;refseq.mrnaCoord_6=1997;refseq.name2_1=MECOM;refseq.name2_2=MECOM;refseq.name2_3=MECOM;refseq.name2_4=MECOM;refseq.name2_5=MECOM;refseq.name2_6=MECOM;refseq.name_1=NM_001105077;refseq.name_2=NM_001105078;refseq.name_3=NM_001163999;refseq.name_4=NM_001164000;refseq.name_5=NM_004991;refseq.name_6=NM_005241;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T641T;refseq.proteinCoordStr_2=p.T576T;refseq.proteinCoordStr_3=p.T577T;refseq.proteinCoordStr_4=p.T576T;refseq.proteinCoordStr_5=p.T764T;refseq.proteinCoordStr_6=p.T576T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.spliceDist_1=-198;refseq.spliceDist_2=-198;refseq.spliceDist_3=-198;refseq.spliceDist_4=-198;refseq.spliceDist_5=-198;refseq.spliceDist_6=-198;refseq.start_1=170316062;refseq.start_2=170316062;refseq.start_3=170316062;refseq.start_4=170316062;refseq.start_5=170316062;refseq.start_6=170316062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;set=FilteredInAll GT 1/0 chr3 170317043 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.942A>G;refseq.codingCoordStr_2=c.747A>G;refseq.codingCoordStr_3=c.750A>G;refseq.codingCoordStr_4=c.747A>G;refseq.codingCoordStr_5=c.1311A>G;refseq.codingCoordStr_6=c.747A>G;refseq.codonCoord_1=314;refseq.codonCoord_2=249;refseq.codonCoord_3=250;refseq.codonCoord_4=249;refseq.codonCoord_5=437;refseq.codonCoord_6=249;refseq.end_1=170317043;refseq.end_2=170317043;refseq.end_3=170317043;refseq.end_4=170317043;refseq.end_5=170317043;refseq.end_6=170317043;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1081;refseq.mrnaCoord_2=1072;refseq.mrnaCoord_3=1019;refseq.mrnaCoord_4=1948;refseq.mrnaCoord_5=1714;refseq.mrnaCoord_6=1016;refseq.name2_1=MECOM;refseq.name2_2=MECOM;refseq.name2_3=MECOM;refseq.name2_4=MECOM;refseq.name2_5=MECOM;refseq.name2_6=MECOM;refseq.name_1=NM_001105077;refseq.name_2=NM_001105078;refseq.name_3=NM_001163999;refseq.name_4=NM_001164000;refseq.name_5=NM_004991;refseq.name_6=NM_005241;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G314G;refseq.proteinCoordStr_2=p.G249G;refseq.proteinCoordStr_3=p.G250G;refseq.proteinCoordStr_4=p.G249G;refseq.proteinCoordStr_5=p.G437G;refseq.proteinCoordStr_6=p.G249G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.referenceCodon_6=GGA;refseq.spliceDist_1=179;refseq.spliceDist_2=179;refseq.spliceDist_3=179;refseq.spliceDist_4=179;refseq.spliceDist_5=179;refseq.spliceDist_6=179;refseq.start_1=170317043;refseq.start_2=170317043;refseq.start_3=170317043;refseq.start_4=170317043;refseq.start_5=170317043;refseq.start_6=170317043;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 1/0 chr3 170317046 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=439;Dels=0.00;HRun=2;HaplotypeScore=19.03;MQ=98.61;MQ0=0;OQ=198.96;QD=0.45;RankSumP=0.00000;SB=877.76;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.939T>G;refseq.codingCoordStr_2=c.744T>G;refseq.codingCoordStr_3=c.747T>G;refseq.codingCoordStr_4=c.744T>G;refseq.codingCoordStr_5=c.1308T>G;refseq.codingCoordStr_6=c.744T>G;refseq.codonCoord_1=313;refseq.codonCoord_2=248;refseq.codonCoord_3=249;refseq.codonCoord_4=248;refseq.codonCoord_5=436;refseq.codonCoord_6=248;refseq.end_1=170317046;refseq.end_2=170317046;refseq.end_3=170317046;refseq.end_4=170317046;refseq.end_5=170317046;refseq.end_6=170317046;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1069;refseq.mrnaCoord_3=1016;refseq.mrnaCoord_4=1945;refseq.mrnaCoord_5=1711;refseq.mrnaCoord_6=1013;refseq.name2_1=MECOM;refseq.name2_2=MECOM;refseq.name2_3=MECOM;refseq.name2_4=MECOM;refseq.name2_5=MECOM;refseq.name2_6=MECOM;refseq.name_1=NM_001105077;refseq.name_2=NM_001105078;refseq.name_3=NM_001163999;refseq.name_4=NM_001164000;refseq.name_5=NM_004991;refseq.name_6=NM_005241;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G313G;refseq.proteinCoordStr_2=p.G248G;refseq.proteinCoordStr_3=p.G249G;refseq.proteinCoordStr_4=p.G248G;refseq.proteinCoordStr_5=p.G436G;refseq.proteinCoordStr_6=p.G248G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.spliceDist_1=176;refseq.spliceDist_2=176;refseq.spliceDist_3=176;refseq.spliceDist_4=176;refseq.spliceDist_5=176;refseq.spliceDist_6=176;refseq.start_1=170317046;refseq.start_2=170317046;refseq.start_3=170317046;refseq.start_4=170317046;refseq.start_5=170317046;refseq.start_6=170317046;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT 0/1 chr3 170323156 . T C 119.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=98.76;MQ0=0;OQ=5922.95;QD=20.78;RankSumP=0.243236;SB=-2495.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_1=c.512A>G;refseq.codingCoordStr_2=c.320A>G;refseq.codingCoordStr_3=c.320A>G;refseq.codingCoordStr_4=c.320A>G;refseq.codingCoordStr_5=c.884A>G;refseq.codingCoordStr_6=c.320A>G;refseq.codonCoord_1=171;refseq.codonCoord_2=107;refseq.codonCoord_3=107;refseq.codonCoord_4=107;refseq.codonCoord_5=295;refseq.codonCoord_6=107;refseq.end_1=170323156;refseq.end_2=170323156;refseq.end_3=170323156;refseq.end_4=170323156;refseq.end_5=170323156;refseq.end_6=170323156;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=651;refseq.mrnaCoord_2=645;refseq.mrnaCoord_3=589;refseq.mrnaCoord_4=1521;refseq.mrnaCoord_5=1287;refseq.mrnaCoord_6=589;refseq.name2_1=MECOM;refseq.name2_2=MECOM;refseq.name2_3=MECOM;refseq.name2_4=MECOM;refseq.name2_5=MECOM;refseq.name2_6=MECOM;refseq.name_1=NM_001105077;refseq.name_2=NM_001105078;refseq.name_3=NM_001163999;refseq.name_4=NM_001164000;refseq.name_5=NM_004991;refseq.name_6=NM_005241;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Q171R;refseq.proteinCoordStr_2=p.Q107R;refseq.proteinCoordStr_3=p.Q107R;refseq.proteinCoordStr_4=p.Q107R;refseq.proteinCoordStr_5=p.Q295R;refseq.proteinCoordStr_6=p.Q107R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.spliceDist_5=54;refseq.spliceDist_6=54;refseq.start_1=170323156;refseq.start_2=170323156;refseq.start_3=170323156;refseq.start_4=170323156;refseq.start_5=170323156;refseq.start_6=170323156;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;refseq.variantCodon_6=CGG;set=Intersection GT 1/0 chr3 170994126 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=2.09396e-09;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1386A>C;refseq.codingCoordStr_2=c.1290A>C;refseq.codonCoord_1=462;refseq.codonCoord_2=430;refseq.end_1=170994126;refseq.end_2=170994126;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1624;refseq.mrnaCoord_2=1528;refseq.name2_1=LRRC34;refseq.name2_2=LRRC34;refseq.name_1=NM_001172779;refseq.name_2=NM_153353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q462H;refseq.proteinCoordStr_2=p.Q430H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=195;refseq.spliceDist_2=195;refseq.start_1=170994126;refseq.start_2=170994126;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr3 171040719 . C T 318.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.92;MQ0=0;OQ=5227.89;QD=18.67;RankSumP=1.97228e-05;SB=-1446.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1404G>A;refseq.codonCoord=468;refseq.end=171040719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1469;refseq.name=NM_024727;refseq.name2=LRRC31;refseq.positionType=CDS;refseq.proteinCoordStr=p.A468A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=77;refseq.start=171040719;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 0/1 chr3 171560926 . C T 273.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=98.79;MQ0=0;OQ=7382.14;QD=39.06;RankSumP=1.00000;SB=-2335.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.113C>T;refseq.codingCoordStr_2=c.53C>T;refseq.codingCoordStr_3=c.113C>T;refseq.codonCoord_1=38;refseq.codonCoord_2=18;refseq.codonCoord_3=38;refseq.end_1=171560926;refseq.end_2=171560926;refseq.end_3=171560926;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=822;refseq.mrnaCoord_2=334;refseq.mrnaCoord_3=825;refseq.name2_1=SKIL;refseq.name2_2=SKIL;refseq.name2_3=SKIL;refseq.name_1=NM_001145097;refseq.name_2=NM_001145098;refseq.name_3=NM_005414;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A38V;refseq.proteinCoordStr_2=p.A18V;refseq.proteinCoordStr_3=p.A38V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=822;refseq.spliceDist_2=77;refseq.spliceDist_3=746;refseq.start_1=171560926;refseq.start_2=171560926;refseq.start_3=171560926;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr3 171619666 . A C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.590015;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.118A>C;refseq.codonCoord=40;refseq.end=171619666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=320;refseq.name=NM_005602;refseq.name2=CLDN11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T40P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-109;refseq.start=171619666;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr3 171681592 . C T 285.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.66;MQ0=0;OQ=2963.91;QD=17.85;RankSumP=0.0718340;SB=-722.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1173G>A;refseq.codonCoord=391;refseq.end=171681592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_020949;refseq.name2=SLC7A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S391S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=58;refseq.start=171681592;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr3 172093866 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.439G>T;refseq.codonCoord=147;refseq.end=172093866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_020390;refseq.name2=EIF5A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V147L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=37;refseq.start=172093866;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr3 172198524 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.66;MQ0=0;OQ=2005.07;QD=12.15;RankSumP=0.320173;SB=-673.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1437C>T;refseq.codonCoord=479;refseq.end=172198524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_000340;refseq.name2=SLC2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F479F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=63;refseq.start=172198524;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr3 172207649 . C T 162.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=98.84;MQ0=0;OQ=3024.52;QD=12.98;RankSumP=0.348249;SB=-699.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.594G>A;refseq.codonCoord=198;refseq.end=172207649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_000340;refseq.name2=SLC2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T198T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-19;refseq.start=172207649;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr3 172214994 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=526;Dels=0.00;HRun=1;HaplotypeScore=15.04;MQ=98.88;MQ0=0;OQ=10088.64;QD=19.18;RankSumP=0.357460;SB=-2904.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.329C>T;refseq.codonCoord=110;refseq.end=172214994;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_000340;refseq.name2=SLC2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T110I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-43;refseq.start=172214994;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr3 173529555 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=832;Dels=0.00;HRun=0;HaplotypeScore=16.52;MQ=98.86;MQ0=0;OQ=17697.15;QD=21.27;RankSumP=8.50926e-08;SB=-7376.74;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1374T>C;refseq.codingCoordStr_2=c.1374T>C;refseq.codonCoord_1=458;refseq.codonCoord_2=458;refseq.end_1=173529555;refseq.end_2=173529555;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1473;refseq.mrnaCoord_2=1546;refseq.name2_1=FNDC3B;refseq.name2_2=FNDC3B;refseq.name_1=NM_001135095;refseq.name_2=NM_022763;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G458G;refseq.proteinCoordStr_2=p.G458G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=173529555;refseq.start_2=173529555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/0 chr3 173648421 . C T 333.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=3899.42;QD=19.79;RankSumP=0.00658193;SB=-1357.29;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.477G>A;refseq.codingCoordStr_2=c.477G>A;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.end_1=173648421;refseq.end_2=173648421;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=477;refseq.mrnaCoord_2=477;refseq.name2_1=GHSR;refseq.name2_2=GHSR;refseq.name_1=NM_004122;refseq.name_2=NM_198407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R159R;refseq.proteinCoordStr_2=p.R159R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-394;refseq.spliceDist_2=-320;refseq.start_1=173648421;refseq.start_2=173648421;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=filterInsoap-gatk GT 0/1 chr3 173648727 . G A 92.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.96;MQ0=0;OQ=1346.26;QD=28.64;RankSumP=1.00000;SB=-464.35;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.171C>T;refseq.codingCoordStr_2=c.171C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=173648727;refseq.end_2=173648727;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=171;refseq.mrnaCoord_2=171;refseq.name2_1=GHSR;refseq.name2_2=GHSR;refseq.name_1=NM_004122;refseq.name_2=NM_198407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G57G;refseq.proteinCoordStr_2=p.G57G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=171;refseq.spliceDist_2=171;refseq.start_1=173648727;refseq.start_2=173648727;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr3 173706997 . A G 191.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.66;MQ0=0;OQ=2833.60;QD=13.89;RankSumP=2.56851e-05;SB=-1227.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.825T>C;refseq.codonCoord=275;refseq.end=173706997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_003810;refseq.name2=TNFSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F275F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=407;refseq.start=173706997;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=filterInsoap-gatk GT 0/1 chr3 173707114 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=5.50825e-09;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.708A>C;refseq.codonCoord=236;refseq.end=173707114;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_003810;refseq.name2=TNFSF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E236D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=290;refseq.start=173707114;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr3 173848526 . T G 254.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=98.38;MQ0=0;OQ=11182.86;QD=40.37;RankSumP=1.00000;SB=-5342.81;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_2=c.307A>C;refseq.codingCoordStr_3=c.-179A>C;refseq.codingCoordStr_4=c.307A>C;refseq.codonCoord_2=103;refseq.codonCoord_4=103;refseq.end_1=173911320;refseq.end_2=173848526;refseq.end_3=173848526;refseq.end_4=173848526;refseq.frame_2=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=445;refseq.mrnaCoord_3=445;refseq.mrnaCoord_4=445;refseq.name2_1=NCEH1;refseq.name2_2=NCEH1;refseq.name2_3=NCEH1;refseq.name2_4=NCEH1;refseq.name_1=NM_001146278;refseq.name_2=NM_001146276;refseq.name_3=NM_001146277;refseq.name_4=NM_020792;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.K103Q;refseq.proteinCoordStr_4=p.K103Q;refseq.referenceAA_2=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_2=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.start_1=173846187;refseq.start_2=173848526;refseq.start_3=173848526;refseq.start_4=173848526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 1/1 chr3 173911476 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=162;Dels=0.00;HRun=3;HaplotypeScore=5.24;MQ=97.21;MQ0=0;OQ=5631.73;QD=34.76;RankSumP=1.00000;SB=-2792.88;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.89A>G;refseq.codingCoordStr_2=c.-397A>G;refseq.codingCoordStr_3=c.-178A>G;refseq.codingCoordStr_4=c.89A>G;refseq.codonCoord_1=30;refseq.codonCoord_4=30;refseq.end_1=173911476;refseq.end_2=173911476;refseq.end_3=173911476;refseq.end_4=173911476;refseq.frame_1=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=227;refseq.mrnaCoord_2=227;refseq.mrnaCoord_3=227;refseq.mrnaCoord_4=227;refseq.name2_1=NCEH1;refseq.name2_2=NCEH1;refseq.name2_3=NCEH1;refseq.name2_4=NCEH1;refseq.name_1=NM_001146276;refseq.name_2=NM_001146277;refseq.name_3=NM_001146278;refseq.name_4=NM_020792;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q30R;refseq.proteinCoordStr_4=p.Q30R;refseq.referenceAA_1=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-146;refseq.spliceDist_2=-146;refseq.spliceDist_3=-146;refseq.spliceDist_4=-146;refseq.start_1=173911476;refseq.start_2=173911476;refseq.start_3=173911476;refseq.start_4=173911476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr3 174177450 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr3;refseq.codingCoordStr=c.933+2;refseq.end=174177450;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_031955;refseq.name2=SPATA16;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=174177450;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr3 174249516 . G A 249.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=5.92;MQ=98.87;MQ0=0;OQ=5064.12;QD=22.61;RankSumP=0.407999;SB=-1209.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.675C>T;refseq.codonCoord=225;refseq.end=174249516;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_031955;refseq.name2=SPATA16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S225S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=63;refseq.start=174249516;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr3 174317819 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=30.57;MQ=98.91;MQ0=0;OQ=8487.26;QD=19.88;RankSumP=0.287205;SB=-3567.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.397A>G;refseq.codonCoord=133;refseq.end=174317819;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_031955;refseq.name2=SPATA16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M133V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-216;refseq.start=174317819;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr3 175479847 . G A 26.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=450;Dels=0.00;HRun=3;HaplotypeScore=7.92;MQ=98.59;MQ0=0;OQ=7409.30;QD=16.47;RankSumP=0.00000;SB=-2133.54;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1362G>A;refseq.codonCoord=454;refseq.end=175479847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_014932;refseq.name2=NLGN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K454K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-288;refseq.start=175479847;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 1/0 chr3 180028720 . T C 341.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.61;MQ0=0;OQ=8017.03;QD=20.14;RankSumP=0.404693;SB=-2467.81;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.288T>C;refseq.codingCoordStr_2=c.288T>C;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=180028720;refseq.end_2=180028720;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=587;refseq.mrnaCoord_2=631;refseq.name2_1=KCNMB2;refseq.name2_2=KCNMB2;refseq.name_1=NM_005832;refseq.name_2=NM_181361;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N96N;refseq.proteinCoordStr_2=p.N96N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=180028720;refseq.start_2=180028720;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr3 180043275 . A C 151.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2048.90;QD=18.80;RankSumP=0.308623;SB=-835.16;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.564A>C;refseq.codingCoordStr_2=c.564A>C;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.end_1=180043275;refseq.end_2=180043275;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=907;refseq.name2_1=KCNMB2;refseq.name2_2=KCNMB2;refseq.name_1=NM_005832;refseq.name_2=NM_181361;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T188T;refseq.proteinCoordStr_2=p.T188T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.start_1=180043275;refseq.start_2=180043275;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr3 180451328 . C T 190.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=17.12;MQ=98.89;MQ0=0;OQ=6164.51;QD=15.45;RankSumP=0.0765352;SB=-2577.12;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.codingCoordStr_2=c.151G>A;refseq.codingCoordStr_3=c.157G>A;refseq.codingCoordStr_4=c.151G>A;refseq.codingCoordStr_5=c.91G>A;refseq.codingCoordStr_6=c.145G>A;refseq.codonCoord_2=51;refseq.codonCoord_3=53;refseq.codonCoord_4=51;refseq.codonCoord_5=31;refseq.codonCoord_6=49;refseq.end_1=180451328;refseq.end_2=180451328;refseq.end_3=180451328;refseq.end_4=180451328;refseq.end_5=180451328;refseq.end_6=180451328;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1033;refseq.mrnaCoord_2=491;refseq.mrnaCoord_3=669;refseq.mrnaCoord_4=491;refseq.mrnaCoord_5=1033;refseq.mrnaCoord_6=1012;refseq.name2_1=KCNMB3;refseq.name2_2=KCNMB3;refseq.name2_3=KCNMB3;refseq.name2_4=KCNMB3;refseq.name2_5=KCNMB3;refseq.name2_6=KCNMB3;refseq.name_1=NR_028135;refseq.name_2=NM_001163677;refseq.name_3=NM_014407;refseq.name_4=NM_171828;refseq.name_5=NM_171829;refseq.name_6=NM_171830;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.A51T;refseq.proteinCoordStr_3=p.A53T;refseq.proteinCoordStr_4=p.A51T;refseq.proteinCoordStr_5=p.A31T;refseq.proteinCoordStr_6=p.A49T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.spliceDist_4=89;refseq.spliceDist_5=89;refseq.spliceDist_6=-104;refseq.start_1=180451328;refseq.start_2=180451328;refseq.start_3=180451328;refseq.start_4=180451328;refseq.start_5=180451328;refseq.start_6=180451328;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;refseq.variantCodon_5=ACT;refseq.variantCodon_6=ACT;set=Intersection GT 0/1 chr3 180579202 . C G 389.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.60;MQ0=0;OQ=7241.11;QD=44.42;RankSumP=1.00000;SB=-2181.55;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1568C>G;refseq.codonCoord=523;refseq.end=180579202;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1694;refseq.name=NM_033540;refseq.name2=MFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P523R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-95;refseq.start=180579202;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr3 180781693 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=916;Dels=0.00;HRun=0;HaplotypeScore=11.26;MQ=98.82;MQ0=0;OQ=16973.73;QD=18.53;RankSumP=0.313983;SB=-4563.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1017C>T;refseq.codingCoordStr_2=c.891C>T;refseq.codingCoordStr_3=c.891C>T;refseq.codonCoord_1=339;refseq.codonCoord_2=297;refseq.codonCoord_3=297;refseq.end_1=180781693;refseq.end_2=180781693;refseq.end_3=180781693;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1190;refseq.mrnaCoord_2=1046;refseq.mrnaCoord_3=1238;refseq.name2_1=ACTL6A;refseq.name2_2=ACTL6A;refseq.name2_3=ACTL6A;refseq.name_1=NM_004301;refseq.name_2=NM_177989;refseq.name_3=NM_178042;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D339D;refseq.proteinCoordStr_2=p.D297D;refseq.proteinCoordStr_3=p.D297D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=180781693;refseq.start_2=180781693;refseq.start_3=180781693;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr3 180783864 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=457;Dels=0.00;HRun=2;HaplotypeScore=33.16;MQ=97.34;MQ0=0;OQ=476.17;QD=1.04;RankSumP=0.00000;SB=646.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1056A>G;refseq.codingCoordStr_2=c.930A>G;refseq.codingCoordStr_3=c.930A>G;refseq.codonCoord_1=352;refseq.codonCoord_2=310;refseq.codonCoord_3=310;refseq.end_1=180783864;refseq.end_2=180783864;refseq.end_3=180783864;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1229;refseq.mrnaCoord_2=1085;refseq.mrnaCoord_3=1277;refseq.name2_1=ACTL6A;refseq.name2_2=ACTL6A;refseq.name2_3=ACTL6A;refseq.name_1=NM_004301;refseq.name_2=NM_177989;refseq.name_3=NM_178042;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G352G;refseq.proteinCoordStr_2=p.G310G;refseq.proteinCoordStr_3=p.G310G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=180783864;refseq.start_2=180783864;refseq.start_3=180783864;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr3 180783867 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1059A>G;refseq.codingCoordStr_2=c.933A>G;refseq.codingCoordStr_3=c.933A>G;refseq.codonCoord_1=353;refseq.codonCoord_2=311;refseq.codonCoord_3=311;refseq.end_1=180783867;refseq.end_2=180783867;refseq.end_3=180783867;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=1088;refseq.mrnaCoord_3=1280;refseq.name2_1=ACTL6A;refseq.name2_2=ACTL6A;refseq.name2_3=ACTL6A;refseq.name_1=NM_004301;refseq.name_2=NM_177989;refseq.name_3=NM_178042;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G353G;refseq.proteinCoordStr_2=p.G311G;refseq.proteinCoordStr_3=p.G311G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=180783867;refseq.start_2=180783867;refseq.start_3=180783867;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr3 180805092 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.15T>G;refseq.codingCoordStr_2=c.-170T>G;refseq.codonCoord_1=5;refseq.end_1=180805092;refseq.end_2=180805092;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=37;refseq.mrnaCoord_2=37;refseq.name2_1=MRPL47;refseq.name2_2=MRPL47;refseq.name_1=NM_020409;refseq.name_2=NM_177988;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.G5G;refseq.referenceAA_1=Gly;refseq.referenceCodon_1=GGT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=180805092;refseq.start_2=180805092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGG;set=FilteredInAll GT 0/1 chr3 182151902 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=373;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.86;MQ0=0;OQ=7116.07;QD=19.08;RankSumP=0.0351532;SB=-2886.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.753C>T;refseq.codingCoordStr_2=c.498C>T;refseq.codingCoordStr_3=c.753C>T;refseq.codonCoord_1=251;refseq.codonCoord_2=166;refseq.codonCoord_3=251;refseq.end_1=182151902;refseq.end_2=182151902;refseq.end_3=182151902;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=775;refseq.mrnaCoord_2=1119;refseq.mrnaCoord_3=775;refseq.name2_1=FXR1;refseq.name2_2=FXR1;refseq.name2_3=FXR1;refseq.name_1=NM_001013438;refseq.name_2=NM_001013439;refseq.name_3=NM_005087;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T251T;refseq.proteinCoordStr_2=p.T166T;refseq.proteinCoordStr_3=p.T251T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=182151902;refseq.start_2=182151902;refseq.start_3=182151902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr3 184049024 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=148;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=98.52;MQ0=0;OQ=2557.09;QD=17.28;RankSumP=0.129680;SB=-867.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.836G>T;refseq.codonCoord=279;refseq.end=184049024;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_014616;refseq.name2=ATP11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R279L;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-16;refseq.start=184049024;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr3 184080024 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2299A>C;refseq.codonCoord=767;refseq.end=184080024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2556;refseq.name=NM_014616;refseq.name2=ATP11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T767P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=47;refseq.start=184080024;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 184164434 . C T 241.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=95.97;MQ0=0;OQ=16337.35;QD=42.11;RankSumP=1.00000;SB=-7308.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.318G>A;refseq.codonCoord=106;refseq.end=184164434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_020640;refseq.name2=DCUN1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A106A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-72;refseq.start=184164434;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 184237903 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.43;MQ0=0;OQ=2155.28;QD=19.24;RankSumP=0.305756;SB=-323.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1391A>C;refseq.codonCoord=464;refseq.end=184237903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_020166;refseq.name2=MCCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H464P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=14;refseq.start=184237903;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr3 184272943 . G A 289.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.16;MQ0=0;OQ=2436.85;QD=39.95;RankSumP=1.00000;SB=-992.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.396C>T;refseq.codonCoord=132;refseq.end=184272943;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_020166;refseq.name2=MCCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L132L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=27;refseq.start=184272943;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 184295050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.127A>C;refseq.codonCoord=43;refseq.end=184295050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_020166;refseq.name2=MCCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T43P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=184295050;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 184336364 . T C 255.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.33;MQ0=0;OQ=2277.33;QD=19.46;RankSumP=0.385135;SB=-666.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.952A>G;refseq.codonCoord=318;refseq.end=184336364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_014398;refseq.name2=LAMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I318V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=184336364;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr3 184354305 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.618A>C;refseq.codonCoord=206;refseq.end=184354305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_014398;refseq.name2=LAMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A206A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-142;refseq.start=184354305;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr3 184354656 . C T 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=25.34;MQ=98.43;MQ0=0;OQ=14803.75;QD=40.45;RankSumP=1.00000;SB=-5088.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.267G>A;refseq.codonCoord=89;refseq.end=184354656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=491;refseq.name=NM_014398;refseq.name2=LAMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A89A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=218;refseq.start=184354656;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 184380614 . A G 322.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.47;MQ0=0;OQ=4476.26;QD=36.10;RankSumP=1.00000;SB=-1917.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3044T>C;refseq.codonCoord=1015;refseq.end=184380614;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3134;refseq.name=NM_015078;refseq.name2=MCF2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1015T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=28;refseq.start=184380614;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr3 184408098 . T C 130.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=11.06;MQ=98.81;MQ0=0;OQ=15925.32;QD=40.73;RankSumP=1.00000;SB=-5477.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2704A>G;refseq.codonCoord=902;refseq.end=184408098;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2794;refseq.name=NM_015078;refseq.name2=MCF2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T902A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=184408098;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 184523820 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.000367590;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.500A>C;refseq.codonCoord=167;refseq.end=184523820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_015078;refseq.name2=MCF2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N167T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=14;refseq.start=184523820;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 184693150 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1390A>C;refseq.codonCoord=464;refseq.end=184693150;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_130446;refseq.name2=KLHL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T464P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=40;refseq.start=184693150;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 184694600 . A G 303.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.85;MQ0=0;OQ=10603.75;QD=35.70;RankSumP=1.00000;SB=-3931.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1311T>C;refseq.codonCoord=437;refseq.end=184694600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_130446;refseq.name2=KLHL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N437N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-40;refseq.start=184694600;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr3 184694720 . C T 120.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=98.82;MQ0=0;OQ=7069.41;QD=19.26;RankSumP=0.471386;SB=-2631.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1191G>A;refseq.codonCoord=397;refseq.end=184694720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1249;refseq.name=NM_130446;refseq.name2=KLHL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S397S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=44;refseq.start=184694720;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr3 184708808 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=181;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.67;MQ0=0;OQ=2719.41;QD=15.02;RankSumP=0.456520;SB=-669.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.642C>A;refseq.codonCoord=214;refseq.end=184708808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_130446;refseq.name2=KLHL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P214P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=183;refseq.start=184708808;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr3 184879634 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1669G>A;refseq.codonCoord=557;refseq.end=184879634;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_017644;refseq.name2=KLHL24;refseq.positionType=CDS;refseq.proteinCoordStr=p.E557K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=67;refseq.start=184879634;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr3 184937236 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.849T>G;refseq.codonCoord=283;refseq.end=184937236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1044;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G283G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=37;refseq.start=184937236;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 184954737 . T C 32.36 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=313;Dels=0.00;HRun=2;HaplotypeScore=11.13;MQ=98.58;MQ0=0;QD=0.10;RankSumP=0.00000;SB=402.37;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1280T>C;refseq.codonCoord=427;refseq.end=184954737;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1475;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F427S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-111;refseq.start=184954737;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr3 184959379 . G A 415.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.90;MQ0=0;OQ=8210.54;QD=42.76;RankSumP=1.00000;SB=-3136.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1588G>A;refseq.codonCoord=530;refseq.end=184959379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1783;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V530I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=36;refseq.start=184959379;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr3 184962708 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=239;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.22;MQ0=0;OQ=4690.25;QD=19.62;RankSumP=0.425702;SB=-1757.17;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1894G>A;refseq.codonCoord=632;refseq.end=184962708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2089;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V632I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-54;refseq.start=184962708;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr3 184976464 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.300607;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2436A>C;refseq.codonCoord=812;refseq.end=184976464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2631;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G812G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=68;refseq.start=184976464;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr3 184976468 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.00871598;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2440G>A;refseq.codonCoord=814;refseq.end=184976468;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2635;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G814S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=72;refseq.start=184976468;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr3 184999401 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.3255A>C;refseq.codonCoord=1085;refseq.end=184999401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3450;refseq.name=NM_018023;refseq.name2=YEATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1085P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=29;refseq.start=184999401;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 185025985 . G A 146.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=349.62;QD=38.85;RankSumP=1.00000;SB=-186.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=185025985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=103;refseq.name=NM_024871;refseq.name2=MAP6D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R15R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=103;refseq.start=185025985;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr3 185041096 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=6309.87;QD=48.91;RankSumP=1.00000;SB=-2534.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.634G>C;refseq.codingCoordStr_2=c.784G>C;refseq.codonCoord_1=212;refseq.codonCoord_2=262;refseq.end_1=185041096;refseq.end_2=185041096;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=693;refseq.mrnaCoord_2=843;refseq.name2_1=PARL;refseq.name2_2=PARL;refseq.name_1=NM_001037639;refseq.name_2=NM_018622;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V212L;refseq.proteinCoordStr_2=p.V262L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=185041096;refseq.start_2=185041096;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr3 185042889 . A G 351.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=97.31;MQ0=0;OQ=5571.23;QD=41.89;RankSumP=1.00000;SB=-2353.96;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.648T>C;refseq.codonCoord_2=216;refseq.end_1=185044702;refseq.end_2=185042889;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=707;refseq.name2_1=PARL;refseq.name2_2=PARL;refseq.name_1=NM_001037639;refseq.name_2=NM_018622;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H216H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=41;refseq.start_1=185041133;refseq.start_2=185042889;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr3 185168228 . A G 408.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2790.50;QD=38.76;RankSumP=1.00000;SB=-1219.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1782T>C;refseq.codonCoord=594;refseq.end=185168228;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1947;refseq.name=NM_005688;refseq.name2=ABCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C594C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=21;refseq.start=185168228;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 185172360 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1446A>C;refseq.codonCoord=482;refseq.end=185172360;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1611;refseq.name=NM_005688;refseq.name2=ABCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K482N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=42;refseq.start=185172360;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr3 185179096 . A G 275.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.42;MQ0=0;OQ=4322.91;QD=36.95;RankSumP=1.00000;SB=-2040.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1185T>C;refseq.codonCoord=395;refseq.end=185179096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_005688;refseq.name2=ABCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A395A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=38;refseq.start=185179096;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr3 185182210 . T C 153.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=98.67;MQ0=0;OQ=13845.72;QD=42.34;RankSumP=1.00000;SB=-6503.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1146A>G;refseq.codonCoord=382;refseq.end=185182210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_005688;refseq.name2=ABCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q382Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=185182210;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr3 185236988 . G C 119.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=98.90;MQ0=0;OQ=13455.23;QD=48.40;RankSumP=1.00000;SB=-6095.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.329G>C;refseq.codingCoordStr_2=c.511+1;refseq.codingCoordStr_3=c.107G>C;refseq.codonCoord_1=110;refseq.codonCoord_3=36;refseq.end_1=185236988;refseq.end_2=185236988;refseq.end_3=185236988;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_3=332;refseq.name2_1=HTR3D;refseq.name2_2=HTR3D;refseq.name2_3=HTR3D;refseq.name_1=NM_001145143;refseq.name_2=NM_001163646;refseq.name_3=NM_182537;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G110A;refseq.proteinCoordStr_3=p.G36A;refseq.referenceAA_1=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-39;refseq.spliceDist_2=1;refseq.spliceDist_3=-35;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=185236988;refseq.start_2=185236988;refseq.start_3=185236988;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr3 185238516 . G A 381.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.39;MQ0=0;OQ=7645.93;QD=39.82;RankSumP=1.00000;SB=-3372.03;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.530G>A;refseq.codingCoordStr_2=c.674G>A;refseq.codingCoordStr_3=c.155G>A;refseq.codonCoord_1=177;refseq.codonCoord_2=225;refseq.codonCoord_3=52;refseq.end_1=185238516;refseq.end_2=185238516;refseq.end_3=185238516;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=674;refseq.mrnaCoord_3=380;refseq.name2_1=HTR3D;refseq.name2_2=HTR3D;refseq.name2_3=HTR3D;refseq.name_1=NM_001145143;refseq.name_2=NM_001163646;refseq.name_3=NM_182537;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R177H;refseq.proteinCoordStr_2=p.R225H;refseq.proteinCoordStr_3=p.R52H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=185238516;refseq.start_2=185238516;refseq.start_3=185238516;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr3 185238597 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.611A>C;refseq.codingCoordStr_2=c.755A>C;refseq.codingCoordStr_3=c.236A>C;refseq.codonCoord_1=204;refseq.codonCoord_2=252;refseq.codonCoord_3=79;refseq.end_1=185238597;refseq.end_2=185238597;refseq.end_3=185238597;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=755;refseq.mrnaCoord_3=461;refseq.name2_1=HTR3D;refseq.name2_2=HTR3D;refseq.name2_3=HTR3D;refseq.name_1=NM_001145143;refseq.name_2=NM_001163646;refseq.name_3=NM_182537;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y204S;refseq.proteinCoordStr_2=p.Y252S;refseq.proteinCoordStr_3=p.Y79S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.spliceDist_3=95;refseq.start_1=185238597;refseq.start_2=185238597;refseq.start_3=185238597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr3 185239396 . G A 110.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=586;Dels=0.00;HRun=0;HaplotypeScore=10.97;MQ=91.33;MQ0=2;OQ=22617.13;QD=38.60;RankSumP=1.00000;SB=-8220.02;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1154G>A;refseq.codingCoordStr_2=c.1304G>A;refseq.codingCoordStr_3=c.779G>A;refseq.codonCoord_1=385;refseq.codonCoord_2=435;refseq.codonCoord_3=260;refseq.end_1=185239396;refseq.end_2=185239396;refseq.end_3=185239396;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1154;refseq.mrnaCoord_2=1304;refseq.mrnaCoord_3=1004;refseq.name2_1=HTR3D;refseq.name2_2=HTR3D;refseq.name2_3=HTR3D;refseq.name_1=NM_001145143;refseq.name_2=NM_001163646;refseq.name_3=NM_182537;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R385H;refseq.proteinCoordStr_2=p.R435H;refseq.proteinCoordStr_3=p.R260H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=169;refseq.spliceDist_2=169;refseq.spliceDist_3=169;refseq.start_1=185239396;refseq.start_2=185239396;refseq.start_3=185239396;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr3 185239436 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=551;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=89.85;MQ0=17;OQ=21856.55;QD=39.67;RankSumP=1.00000;SB=-8019.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1194C>T;refseq.codingCoordStr_2=c.1344C>T;refseq.codingCoordStr_3=c.819C>T;refseq.codonCoord_1=398;refseq.codonCoord_2=448;refseq.codonCoord_3=273;refseq.end_1=185239436;refseq.end_2=185239436;refseq.end_3=185239436;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1194;refseq.mrnaCoord_2=1344;refseq.mrnaCoord_3=1044;refseq.name2_1=HTR3D;refseq.name2_2=HTR3D;refseq.name2_3=HTR3D;refseq.name_1=NM_001145143;refseq.name_2=NM_001163646;refseq.name_3=NM_182537;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V398V;refseq.proteinCoordStr_2=p.V448V;refseq.proteinCoordStr_3=p.V273V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=209;refseq.spliceDist_2=209;refseq.spliceDist_3=209;refseq.start_1=185239436;refseq.start_2=185239436;refseq.start_3=185239436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr3 185257456 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=735;Dels=0.00;HRun=2;HaplotypeScore=10.90;MQ=98.02;MQ0=0;OQ=13112.10;QD=17.84;RankSumP=0.232821;SB=-4755.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.489C>A;refseq.codonCoord=163;refseq.end=185257456;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_130770;refseq.name2=HTR3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N163K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-71;refseq.start=185257456;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr3 185260704 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=97.39;MQ0=0;OQ=5781.23;QD=26.52;RankSumP=0.456632;SB=-659.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1214G>C;refseq.codonCoord=405;refseq.end=185260704;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_130770;refseq.name2=HTR3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G405A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=73;refseq.start=185260704;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr3 185301110 . G A 433 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.76;MQ0=0;OQ=5964.04;QD=41.13;RankSumP=1.00000;SB=-2961.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.256G>A;refseq.codonCoord=86;refseq.end=185301110;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_182589;refseq.name2=HTR3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A86T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-24;refseq.start=185301110;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr3 185306270 . T C 201.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=6.37;MQ=98.52;MQ0=0;OQ=12249.25;QD=38.16;RankSumP=1.00000;SB=-4100.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.789T>C;refseq.codonCoord=263;refseq.end=185306270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_182589;refseq.name2=HTR3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S263S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=24;refseq.start=185306270;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr3 185338487 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.614T>G;refseq.codonCoord=205;refseq.end=185338487;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_003907;refseq.name2=EIF2B5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V205G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-71;refseq.start=185338487;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 185342461 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1211C>G;refseq.codonCoord=404;refseq.end=185342461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_003907;refseq.name2=EIF2B5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A404G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=55;refseq.start=185342461;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 185365656 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=120;Dels=0.00;HRun=2;HaplotypeScore=9.53;MQ=98.61;MQ0=0;OQ=2150.55;QD=17.92;RankSumP=0.204733;SB=-964.00;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.661C>G;refseq.codonCoord=221;refseq.end=185365656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=801;refseq.name=NM_004423;refseq.name2=DVL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R221G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-33;refseq.start=185365656;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr3 185382526 . C T 102.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=99.00;MQ0=0;OQ=1537.78;QD=19.22;RankSumP=0.370955;SB=-562.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.954C>T;refseq.codonCoord=318;refseq.end=185382526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_001025205;refseq.name2=AP2M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I318I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=185382526;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr3 185383975 . G A 279.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.65;MQ0=0;OQ=2731.45;QD=17.29;RankSumP=0.0859478;SB=-907.38;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1179G>A;refseq.codonCoord=393;refseq.end=185383975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1336;refseq.name=NM_001025205;refseq.name2=AP2M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A393A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=12;refseq.start=185383975;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr3 185389912 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1100A>G;refseq.codonCoord=367;refseq.end=185389912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_018358;refseq.name2=ABCF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E367G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-14;refseq.start=185389912;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 185458059 . C T 109.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=14.82;MQ=98.53;MQ0=0;OQ=12320.91;QD=32.60;RankSumP=1.00000;SB=-3062.48;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.301C>T;refseq.codingCoordStr_2=c.301C>T;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.end_1=185458059;refseq.end_2=185458059;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=339;refseq.mrnaCoord_2=339;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name_1=NM_014693;refseq.name_2=NM_032331;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H101Y;refseq.proteinCoordStr_2=p.H101Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=185458059;refseq.start_2=185458059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr3 185458802 . T C 99.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=10.28;MQ=98.70;MQ0=0;OQ=2341.88;QD=11.89;RankSumP=0.0629818;SB=-1171.97;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.513T>C;refseq.codonCoord_2=171;refseq.end_1=185477363;refseq.end_2=185458802;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=551;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name_1=NM_014693;refseq.name_2=NM_032331;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F171F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTT;refseq.spliceDist_2=33;refseq.start_1=185458249;refseq.start_2=185458802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr3 185458869 . T G 28.40 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=155;Dels=0.00;HRun=2;HaplotypeScore=56.47;MQ=96.99;MQ0=0;QD=0.18;RankSumP=0.00000;SB=206.60;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.580T>G;refseq.codonCoord_2=194;refseq.end_1=185477363;refseq.end_2=185458869;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=618;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name_1=NM_014693;refseq.name_2=NM_032331;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S194A;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=100;refseq.start_1=185458249;refseq.start_2=185458869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr3 185458935 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=242;Dels=0.00;HRun=3;HaplotypeScore=9.89;MQ=97.36;MQ0=0;OQ=4625.16;QD=19.11;RankSumP=0.0486900;SB=-1910.55;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.646A>G;refseq.codonCoord_2=216;refseq.end_1=185477363;refseq.end_2=185458935;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=684;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name_1=NM_014693;refseq.name_2=NM_032331;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K216E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=166;refseq.start_1=185458249;refseq.start_2=185458935;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr3 185477782 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.225A>G;refseq.codingCoordStr_2=c.450A>G;refseq.codingCoordStr_3=c.312A>G;refseq.codingCoordStr_4=c.666A>G;refseq.codonCoord_1=75;refseq.codonCoord_2=150;refseq.codonCoord_3=104;refseq.codonCoord_4=222;refseq.end_1=185477782;refseq.end_2=185477782;refseq.end_3=185477782;refseq.end_4=185477782;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=593;refseq.mrnaCoord_3=455;refseq.mrnaCoord_4=704;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name2_3=ECE2;refseq.name2_4=ECE2;refseq.name_1=NM_001037324;refseq.name_2=NM_001100120;refseq.name_3=NM_001100121;refseq.name_4=NM_014693;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G75G;refseq.proteinCoordStr_2=p.G150G;refseq.proteinCoordStr_3=p.G104G;refseq.proteinCoordStr_4=p.G222G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.start_1=185477782;refseq.start_2=185477782;refseq.start_3=185477782;refseq.start_4=185477782;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr3 185477904 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.347A>C;refseq.codingCoordStr_2=c.572A>C;refseq.codingCoordStr_3=c.434A>C;refseq.codingCoordStr_4=c.788A>C;refseq.codonCoord_1=116;refseq.codonCoord_2=191;refseq.codonCoord_3=145;refseq.codonCoord_4=263;refseq.end_1=185477904;refseq.end_2=185477904;refseq.end_3=185477904;refseq.end_4=185477904;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=715;refseq.mrnaCoord_3=577;refseq.mrnaCoord_4=826;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name2_3=ECE2;refseq.name2_4=ECE2;refseq.name_1=NM_001037324;refseq.name_2=NM_001100120;refseq.name_3=NM_001100121;refseq.name_4=NM_014693;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N116T;refseq.proteinCoordStr_2=p.N191T;refseq.proteinCoordStr_3=p.N145T;refseq.proteinCoordStr_4=p.N263T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.start_1=185477904;refseq.start_2=185477904;refseq.start_3=185477904;refseq.start_4=185477904;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 0/1 chr3 185478762 . C T 370.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=8.47;MQ=98.79;MQ0=0;OQ=5470.72;QD=19.20;RankSumP=0.117662;SB=-2078.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.630C>T;refseq.codingCoordStr_2=c.855C>T;refseq.codingCoordStr_3=c.717C>T;refseq.codingCoordStr_4=c.1071C>T;refseq.codonCoord_1=210;refseq.codonCoord_2=285;refseq.codonCoord_3=239;refseq.codonCoord_4=357;refseq.end_1=185478762;refseq.end_2=185478762;refseq.end_3=185478762;refseq.end_4=185478762;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=773;refseq.mrnaCoord_2=998;refseq.mrnaCoord_3=860;refseq.mrnaCoord_4=1109;refseq.name2_1=ECE2;refseq.name2_2=ECE2;refseq.name2_3=ECE2;refseq.name2_4=ECE2;refseq.name_1=NM_001037324;refseq.name_2=NM_001100120;refseq.name_3=NM_001100121;refseq.name_4=NM_014693;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A210A;refseq.proteinCoordStr_2=p.A285A;refseq.proteinCoordStr_3=p.A239A;refseq.proteinCoordStr_4=p.A357A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.start_1=185478762;refseq.start_2=185478762;refseq.start_3=185478762;refseq.start_4=185478762;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 0/1 chr3 185502364 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.515A>G;refseq.codonCoord=172;refseq.end=185502364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_002808;refseq.name2=PSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E172G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=185502364;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 185507243 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1961T>G;refseq.codonCoord=654;refseq.end=185507243;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_002808;refseq.name2=PSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V654G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=11;refseq.start=185507243;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 185508970 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2465T>G;refseq.codonCoord=822;refseq.end=185508970;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2498;refseq.name=NM_002808;refseq.name2=PSMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V822G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=185508970;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 185520227 . A G 97.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2533.17;QD=31.27;RankSumP=1.00000;SB=-1112.79;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.481A>G;refseq.codingCoordStr_2=c.481A>G;refseq.codingCoordStr_3=c.-12A>G;refseq.codingCoordStr_4=c.220A>G;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.codonCoord_4=74;refseq.end_1=185520227;refseq.end_2=185520227;refseq.end_3=185520227;refseq.end_4=185520227;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=878;refseq.mrnaCoord_2=679;refseq.mrnaCoord_3=264;refseq.mrnaCoord_4=441;refseq.name2_1=EIF4G1;refseq.name2_2=EIF4G1;refseq.name2_3=EIF4G1;refseq.name2_4=EIF4G1;refseq.name_1=NM_182917;refseq.name_2=NM_198241;refseq.name_3=NM_198242;refseq.name_4=NM_198244;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T161A;refseq.proteinCoordStr_2=p.T161A;refseq.proteinCoordStr_4=p.T74A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.start_1=185520227;refseq.start_2=185520227;refseq.start_3=185520227;refseq.start_4=185520227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr3 185522360 . A G 349.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.73;MQ0=0;OQ=4769.12;QD=36.69;RankSumP=1.00000;SB=-2063.14;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_1=c.706A>G;refseq.codingCoordStr_2=c.1294A>G;refseq.codingCoordStr_3=c.1294A>G;refseq.codingCoordStr_4=c.802A>G;refseq.codingCoordStr_5=c.1033A>G;refseq.codonCoord_1=236;refseq.codonCoord_2=432;refseq.codonCoord_3=432;refseq.codonCoord_4=268;refseq.codonCoord_5=345;refseq.end_1=185522360;refseq.end_2=185522360;refseq.end_3=185522360;refseq.end_4=185522360;refseq.end_5=185522360;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=912;refseq.mrnaCoord_2=1691;refseq.mrnaCoord_3=1492;refseq.mrnaCoord_4=1077;refseq.mrnaCoord_5=1254;refseq.name2_1=EIF4G1;refseq.name2_2=EIF4G1;refseq.name2_3=EIF4G1;refseq.name2_4=EIF4G1;refseq.name2_5=EIF4G1;refseq.name_1=NM_004953;refseq.name_2=NM_182917;refseq.name_3=NM_198241;refseq.name_4=NM_198242;refseq.name_5=NM_198244;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M236V;refseq.proteinCoordStr_2=p.M432V;refseq.proteinCoordStr_3=p.M432V;refseq.proteinCoordStr_4=p.M268V;refseq.proteinCoordStr_5=p.M345V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=-226;refseq.spliceDist_2=-226;refseq.spliceDist_3=-226;refseq.spliceDist_4=-226;refseq.spliceDist_5=-226;refseq.start_1=185522360;refseq.start_2=185522360;refseq.start_3=185522360;refseq.start_4=185522360;refseq.start_5=185522360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/1 chr3 185529164 . C T 412.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.83;MQ0=0;OQ=2764.22;QD=40.65;RankSumP=1.00000;SB=-1124.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.codingCoordStr_1=c.3417C>T;refseq.codingCoordStr_2=c.4005C>T;refseq.codingCoordStr_3=c.4005C>T;refseq.codingCoordStr_4=c.3513C>T;refseq.codingCoordStr_5=c.3744C>T;refseq.codonCoord_1=1139;refseq.codonCoord_2=1335;refseq.codonCoord_3=1335;refseq.codonCoord_4=1171;refseq.codonCoord_5=1248;refseq.end_1=185529164;refseq.end_2=185529164;refseq.end_3=185529164;refseq.end_4=185529164;refseq.end_5=185529164;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3623;refseq.mrnaCoord_2=4402;refseq.mrnaCoord_3=4203;refseq.mrnaCoord_4=3788;refseq.mrnaCoord_5=3965;refseq.name2_1=EIF4G1;refseq.name2_2=EIF4G1;refseq.name2_3=EIF4G1;refseq.name2_4=EIF4G1;refseq.name2_5=EIF4G1;refseq.name_1=NM_004953;refseq.name_2=NM_182917;refseq.name_3=NM_198241;refseq.name_4=NM_198242;refseq.name_5=NM_198244;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.H1139H;refseq.proteinCoordStr_2=p.H1335H;refseq.proteinCoordStr_3=p.H1335H;refseq.proteinCoordStr_4=p.H1171H;refseq.proteinCoordStr_5=p.H1248H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.referenceCodon_5=CAC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.spliceDist_5=52;refseq.start_1=185529164;refseq.start_2=185529164;refseq.start_3=185529164;refseq.start_4=185529164;refseq.start_5=185529164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;refseq.variantCodon_5=CAT;set=Intersection GT 1/1 chr3 185553757 . G C 115.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=97.15;MQ0=0;OQ=3730.70;QD=47.83;RankSumP=1.00000;SB=-1564.89;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1952C>G;refseq.codingCoordStr_2=c.1871C>G;refseq.codingCoordStr_3=c.2003C>G;refseq.codingCoordStr_4=c.2003C>G;refseq.codonCoord_1=651;refseq.codonCoord_2=624;refseq.codonCoord_3=668;refseq.codonCoord_4=668;refseq.end_1=185553757;refseq.end_2=185553757;refseq.end_3=185553757;refseq.end_4=185553757;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2076;refseq.mrnaCoord_2=1995;refseq.mrnaCoord_3=2127;refseq.mrnaCoord_4=2127;refseq.name2_1=CLCN2;refseq.name2_2=CLCN2;refseq.name2_3=CLCN2;refseq.name2_4=CLCN2;refseq.name_1=NM_001171087;refseq.name_2=NM_001171088;refseq.name_3=NM_001171089;refseq.name_4=NM_004366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T651S;refseq.proteinCoordStr_2=p.T624S;refseq.proteinCoordStr_3=p.T668S;refseq.proteinCoordStr_4=p.T668S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.spliceDist_4=-26;refseq.start_1=185553757;refseq.start_2=185553757;refseq.start_3=185553757;refseq.start_4=185553757;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/1 chr3 185555932 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.71;MQ0=0;OQ=1089.99;QD=15.80;RankSumP=0.185978;SB=-261.20;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1250C>T;refseq.codingCoordStr_2=c.1118C>T;refseq.codingCoordStr_3=c.1250C>T;refseq.codingCoordStr_4=c.1250C>T;refseq.codonCoord_1=417;refseq.codonCoord_2=373;refseq.codonCoord_3=417;refseq.codonCoord_4=417;refseq.end_1=185555932;refseq.end_2=185555932;refseq.end_3=185555932;refseq.end_4=185555932;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1374;refseq.mrnaCoord_2=1242;refseq.mrnaCoord_3=1374;refseq.mrnaCoord_4=1374;refseq.name2_1=CLCN2;refseq.name2_2=CLCN2;refseq.name2_3=CLCN2;refseq.name2_4=CLCN2;refseq.name_1=NM_001171087;refseq.name_2=NM_001171088;refseq.name_3=NM_001171089;refseq.name_4=NM_004366;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P417L;refseq.proteinCoordStr_2=p.P373L;refseq.proteinCoordStr_3=p.P417L;refseq.proteinCoordStr_4=p.P417L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.spliceDist_3=-77;refseq.spliceDist_4=-77;refseq.start_1=185555932;refseq.start_2=185555932;refseq.start_3=185555932;refseq.start_4=185555932;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=Intersection GT 1/0 chr3 185580887 . A C 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.87A>C;refseq.codonCoord=29;refseq.end=185580887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_003741;refseq.name2=CHRD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P29P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-62;refseq.start=185580887;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/1 chr3 185582072 . C A 101.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.90;MQ0=0;OQ=523.83;QD=16.37;RankSumP=0.524999;SB=-144.48;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.477C>A;refseq.codonCoord=159;refseq.end=185582072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_003741;refseq.name2=CHRD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-35;refseq.start=185582072;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr3 185762823 . C G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.106C>G;refseq.codonCoord=36;refseq.end=185762823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R36G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-13;refseq.start=185762823;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/1 chr3 185773042 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=13.76;MQ=98.68;MQ0=0;OQ=2615.11;QD=11.89;RankSumP=0.248915;SB=-755.36;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.240G>A;refseq.codonCoord=80;refseq.end=185773042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V80V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=57;refseq.start=185773042;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr3 185776410 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.955A>C;refseq.codonCoord=319;refseq.end=185776410;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T319P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-58;refseq.start=185776410;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 185776463 . T C 455.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.90;MQ0=0;OQ=5399.41;QD=39.41;RankSumP=1.00000;SB=-2134.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1008T>C;refseq.codonCoord=336;refseq.end=185776463;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1445;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C336C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=185776463;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr3 185781357 . G A 107.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=7.93;MQ=98.80;MQ0=0;OQ=6938.14;QD=20.17;RankSumP=0.0242637;SB=-2587.20;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2535G>A;refseq.codonCoord=845;refseq.end=185781357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2972;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q845Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=185781357;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 185781762 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=659;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.55;MQ0=0;OQ=14105.69;QD=21.40;RankSumP=0.420256;SB=-5856.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2760G>A;refseq.codonCoord=920;refseq.end=185781762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3197;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T920T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=28;refseq.start=185781762;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr3 185781861 . T C 324.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=235;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=98.68;MQ0=0;OQ=9524.39;QD=40.53;RankSumP=1.00000;SB=-2330.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2859T>C;refseq.codonCoord=953;refseq.end=185781861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3296;refseq.name=NM_004443;refseq.name2=EPHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S953S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-30;refseq.start=185781861;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr3 185911597 . T G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=36.71;MQ=97.91;MQ0=0;OQ=6202.16;QD=26.28;RankSumP=1.00000;SB=-2649.52;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.707A>C;refseq.codonCoord=236;refseq.end=185911597;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_022149;refseq.name2=MAGEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E236A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-749;refseq.start=185911597;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr3 185911618 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.686T>G;refseq.codonCoord=229;refseq.end=185911618;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_022149;refseq.name2=MAGEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V229G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-770;refseq.start=185911618;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 185912108 . C A 200.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.08;MQ0=0;OQ=4100.73;QD=32.29;RankSumP=1.00000;SB=-346.83;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.196G>T;refseq.codonCoord=66;refseq.end=185912108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_022149;refseq.name2=MAGEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A66S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=423;refseq.start=185912108;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr3 186637978 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.525T>G;refseq.codonCoord=175;refseq.end=186637978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_004721;refseq.name2=MAP3K13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G175G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=50;refseq.start=186637978;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr3 186893227 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.358A>C;refseq.codingCoordStr_2=c.358A>C;refseq.codonCoord_1=120;refseq.codonCoord_2=120;refseq.end_1=186893227;refseq.end_2=186893227;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=437;refseq.mrnaCoord_2=437;refseq.name2_1=IGF2BP2;refseq.name2_2=IGF2BP2;refseq.name_1=NM_001007225;refseq.name_2=NM_006548;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T120P;refseq.proteinCoordStr_2=p.T120P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=186893227;refseq.start_2=186893227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr3 187249217 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1438A>C;refseq.codonCoord=480;refseq.end=187249217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1685;refseq.name=NM_004454;refseq.name2=ETV5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T480P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=127;refseq.start=187249217;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr3 187388811 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=387;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=98.93;MQ0=0;OQ=7165.29;QD=18.51;RankSumP=0.392139;SB=-2974.20;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1894A>G;refseq.codingCoordStr_2=c.1852A>G;refseq.codingCoordStr_3=c.1969A>G;refseq.codonCoord_1=632;refseq.codonCoord_2=618;refseq.codonCoord_3=657;refseq.end_1=187388811;refseq.end_2=187388811;refseq.end_3=187388811;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2431;refseq.mrnaCoord_2=2389;refseq.mrnaCoord_3=2506;refseq.name2_1=DGKG;refseq.name2_2=DGKG;refseq.name2_3=DGKG;refseq.name_1=NM_001080744;refseq.name_2=NM_001080745;refseq.name_3=NM_001346;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I632V;refseq.proteinCoordStr_2=p.I618V;refseq.proteinCoordStr_3=p.I657V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=187388811;refseq.start_2=187388811;refseq.start_3=187388811;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/0 chr3 187472790 . C T 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=3;HaplotypeScore=9.45;MQ=98.73;MQ0=0;OQ=12760.93;QD=43.55;RankSumP=1.00000;SB=-3951.47;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.947G>A;refseq.codingCoordStr_2=c.947G>A;refseq.codingCoordStr_3=c.947G>A;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.codonCoord_3=316;refseq.end_1=187472790;refseq.end_2=187472790;refseq.end_3=187472790;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1484;refseq.mrnaCoord_3=1484;refseq.name2_1=DGKG;refseq.name2_2=DGKG;refseq.name2_3=DGKG;refseq.name_1=NM_001080744;refseq.name_2=NM_001080745;refseq.name_3=NM_001346;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R316K;refseq.proteinCoordStr_2=p.R316K;refseq.proteinCoordStr_3=p.R316K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.start_1=187472790;refseq.start_2=187472790;refseq.start_3=187472790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/1 chr3 187489312 . G C 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=26.32;MQ=97.95;MQ0=0;OQ=4773.23;QD=30.40;RankSumP=1.00000;SB=-1662.60;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.425C>G;refseq.codingCoordStr_2=c.425C>G;refseq.codingCoordStr_3=c.425C>G;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.codonCoord_3=142;refseq.end_1=187489312;refseq.end_2=187489312;refseq.end_3=187489312;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=962;refseq.mrnaCoord_2=962;refseq.mrnaCoord_3=962;refseq.name2_1=DGKG;refseq.name2_2=DGKG;refseq.name2_3=DGKG;refseq.name_1=NM_001080744;refseq.name_2=NM_001080745;refseq.name_3=NM_001346;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T142S;refseq.proteinCoordStr_2=p.T142S;refseq.proteinCoordStr_3=p.T142S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=187489312;refseq.start_2=187489312;refseq.start_3=187489312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr3 187498656 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.201T>C;refseq.codingCoordStr_2=c.201T>C;refseq.codingCoordStr_3=c.201T>C;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.codonCoord_3=67;refseq.end_1=187498656;refseq.end_2=187498656;refseq.end_3=187498656;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=738;refseq.mrnaCoord_2=738;refseq.mrnaCoord_3=738;refseq.name2_1=DGKG;refseq.name2_2=DGKG;refseq.name2_3=DGKG;refseq.name_1=NM_001080744;refseq.name_2=NM_001080745;refseq.name_3=NM_001346;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L67L;refseq.proteinCoordStr_2=p.L67L;refseq.proteinCoordStr_3=p.L67L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.start_1=187498656;refseq.start_2=187498656;refseq.start_3=187498656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=FilteredInAll GT 0/1 chr3 187813663 . C G 105.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=11.24;MQ=97.82;MQ0=0;OQ=2103.94;QD=13.57;RankSumP=0.334684;SB=-253.08;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.39C>G;refseq.codonCoord=13;refseq.end=187813663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_001622;refseq.name2=AHSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=120;refseq.start=187813663;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr3 187820407 . T C 253.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=12.13;MQ=98.93;MQ0=0;OQ=10658.15;QD=38.34;RankSumP=1.00000;SB=-4294.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.743T>C;refseq.codonCoord=248;refseq.end=187820407;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_001622;refseq.name2=AHSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.M248T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-17;refseq.start=187820407;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr3 187821076 . G C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=2311.55;QD=47.17;RankSumP=1.00000;SB=-634.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.767G>C;refseq.codonCoord=256;refseq.end=187821076;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_001622;refseq.name2=AHSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S256T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=187821076;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 187821119 . A C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=73;Dels=0.00;HRun=3;HaplotypeScore=1.27;MQ=98.40;MQ0=0;OQ=2449.37;QD=33.55;RankSumP=1.00000;SB=-1104.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.810A>C;refseq.codonCoord=270;refseq.end=187821119;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_001622;refseq.name2=AHSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T270T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=51;refseq.start=187821119;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr3 187821234 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=13.54;MQ=97.96;MQ0=0;OQ=852.71;QD=11.07;RankSumP=0.00291987;SB=-232.63;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.925T>C;refseq.codonCoord=309;refseq.end=187821234;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1006;refseq.name=NM_001622;refseq.name2=AHSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L309L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=166;refseq.start=187821234;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/0 chr3 187853027 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=7.32;MQ=98.88;MQ0=0;OQ=1272.47;QD=12.85;RankSumP=0.270864;SB=-496.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1062G>T;refseq.codonCoord=354;refseq.end=187853027;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_014375;refseq.name2=FETUB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V354V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=282;refseq.start=187853027;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr3 187877874 . T C 190.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=1703.37;QD=36.24;RankSumP=1.00000;SB=-116.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1086T>C;refseq.codonCoord=362;refseq.end=187877874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_000412;refseq.name2=HRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H362H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=345;refseq.start=187877874;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr3 187878130 . C T 311.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=8.29;MQ=98.78;MQ0=0;OQ=5126.62;QD=20.51;RankSumP=0.112177;SB=-1197.81;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1342C>T;refseq.codonCoord=448;refseq.end=187878130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_000412;refseq.name2=HRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R448C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-588;refseq.start=187878130;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr3 187878266 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=498;Dels=0.00;HRun=1;HaplotypeScore=12.05;MQ=98.92;MQ0=0;OQ=9903.51;QD=19.89;RankSumP=0.112509;SB=-3719.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1478A>T;refseq.codonCoord=493;refseq.end=187878266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1501;refseq.name=NM_000412;refseq.name2=HRG;refseq.positionType=CDS;refseq.proteinCoordStr=p.N493I;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-452;refseq.start=187878266;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr3 187922937 . G A 357.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=3306.97;QD=42.95;RankSumP=1.00000;SB=-889.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.324G>A;refseq.codingCoordStr_2=c.324G>A;refseq.codingCoordStr_3=c.324G>A;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.end_1=187922937;refseq.end_2=187922937;refseq.end_3=187922937;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=558;refseq.mrnaCoord_3=558;refseq.name2_1=KNG1;refseq.name2_2=KNG1;refseq.name2_3=KNG1;refseq.name_1=NM_000893;refseq.name_2=NM_001102416;refseq.name_3=NM_001166451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T108T;refseq.proteinCoordStr_2=p.T108T;refseq.proteinCoordStr_3=p.T108T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=187922937;refseq.start_2=187922937;refseq.start_3=187922937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr3 187925712 . T C 304.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=98.37;MQ0=0;OQ=10233.12;QD=38.04;RankSumP=1.00000;SB=-5083.59;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.533T>C;refseq.codingCoordStr_2=c.533T>C;refseq.codingCoordStr_3=c.533T>C;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.codonCoord_3=178;refseq.end_1=187925712;refseq.end_2=187925712;refseq.end_3=187925712;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=767;refseq.mrnaCoord_2=767;refseq.mrnaCoord_3=767;refseq.name2_1=KNG1;refseq.name2_2=KNG1;refseq.name2_3=KNG1;refseq.name_1=NM_000893;refseq.name_2=NM_001102416;refseq.name_3=NM_001166451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M178T;refseq.proteinCoordStr_2=p.M178T;refseq.proteinCoordStr_3=p.M178T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=187925712;refseq.start_2=187925712;refseq.start_3=187925712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr3 187942621 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=576;Dels=0.00;HRun=0;HaplotypeScore=17.34;MQ=98.75;MQ0=0;OQ=24073.29;QD=41.79;RankSumP=1.00000;SB=-10792.40;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_3=c.1742T>C;refseq.codonCoord_3=581;refseq.end_1=187944177;refseq.end_2=187944177;refseq.end_3=187942621;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1976;refseq.name2_1=KNG1;refseq.name2_2=KNG1;refseq.name2_3=KNG1;refseq.name_1=NM_000893;refseq.name_2=NM_001166451;refseq.name_3=NM_001102416;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.I581T;refseq.referenceAA_3=Ile;refseq.referenceCodon_3=ATA;refseq.spliceDist_3=617;refseq.start_1=187942093;refseq.start_2=187942093;refseq.start_3=187942621;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr3 187987668 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.830T>G;refseq.codonCoord=277;refseq.end=187987668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_001967;refseq.name2=EIF4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V277G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=59;refseq.start=187987668;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr3 188054783 . T C 247 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.68;MQ0=0;OQ=1486.57;QD=16.89;RankSumP=0.130616;SB=-527.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.331T>C;refseq.codonCoord=111;refseq.end=188054783;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=415;refseq.name=NM_004797;refseq.name2=ADIPOQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y111H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=117;refseq.start=188054783;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr3 188400445 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.53;MQ0=0;OQ=859.99;QD=23.24;RankSumP=0.0564527;SB=-380.05;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.685C>G;refseq.codonCoord=229;refseq.end=188400445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_153708;refseq.name2=RTP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q229E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=413;refseq.start=188400445;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr3 188436979 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=97.22;MQ0=0;OQ=1569.63;QD=36.50;RankSumP=1.00000;SB=-342.63;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.1374T>C;refseq.codonCoord_2=458;refseq.end_1=188441952;refseq.end_2=188436979;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1706;refseq.name2_1=MASP1;refseq.name2_2=MASP1;refseq.name_1=NM_001879;refseq.name_2=NM_139125;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P458P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=71;refseq.start_1=188430390;refseq.start_2=188436979;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr3 188461271 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=3.85990e-08;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.499T>C;refseq.codingCoordStr_2=c.499T>C;refseq.codingCoordStr_3=c.499T>C;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=167;refseq.end_1=188461271;refseq.end_2=188461271;refseq.end_3=188461271;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=831;refseq.mrnaCoord_3=831;refseq.name2_1=MASP1;refseq.name2_2=MASP1;refseq.name2_3=MASP1;refseq.name_1=NM_001031849;refseq.name_2=NM_001879;refseq.name_3=NM_139125;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S167P;refseq.proteinCoordStr_2=p.S167P;refseq.proteinCoordStr_3=p.S167P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=188461271;refseq.start_2=188461271;refseq.start_3=188461271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr3 188571306 . C T 247.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=9.54;MQ=98.70;MQ0=0;OQ=4770.94;QD=20.05;RankSumP=0.486092;SB=-1666.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.192C>T;refseq.codonCoord=64;refseq.end=188571306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_022147;refseq.name2=RTP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S64S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=37;refseq.start=188571306;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr3 188571620 . G A 284.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.51;MQ0=0;OQ=4311.96;QD=22.81;RankSumP=0.446252;SB=-1801.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.506G>A;refseq.codonCoord=169;refseq.end=188571620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_022147;refseq.name2=RTP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C169Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=351;refseq.start=188571620;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr3 188899328 . C A 83.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=55.36;MQ0=98;OQ=2002.08;QD=12.06;RankSumP=1.00000;SB=-983.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.330G>T;refseq.codonCoord=110;refseq.end=188899328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_001004312;refseq.name2=RTP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L110L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=166;refseq.start=188899328;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr3 188899413 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=5.22;MQ=78.27;MQ0=32;OQ=3533.87;QD=26.57;RankSumP=1.00000;SB=-1110.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.245A>G;refseq.codonCoord=82;refseq.end=188899413;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_001004312;refseq.name2=RTP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q82R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=81;refseq.start=188899413;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr3 188927237 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=317;Dels=0.00;HRun=2;HaplotypeScore=59.96;MQ=97.07;MQ0=0;OQ=147.50;QD=0.47;RankSumP=0.00000;SB=465.60;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1684G>C;refseq.codingCoordStr_3=c.1684G>C;refseq.codonCoord_2=562;refseq.codonCoord_3=562;refseq.end_1=188928831;refseq.end_2=188927237;refseq.end_3=188927237;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2141;refseq.mrnaCoord_3=2011;refseq.name2_1=BCL6;refseq.name2_2=BCL6;refseq.name2_3=BCL6;refseq.name_1=NM_001134738;refseq.name_2=NM_001130845;refseq.name_3=NM_001706;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A562P;refseq.proteinCoordStr_3=p.A562P;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=188926122;refseq.start_2=188927237;refseq.start_3=188927237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr3 188927239 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.1682T>C;refseq.codingCoordStr_3=c.1682T>C;refseq.codonCoord_2=561;refseq.codonCoord_3=561;refseq.end_1=188928831;refseq.end_2=188927239;refseq.end_3=188927239;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2139;refseq.mrnaCoord_3=2009;refseq.name2_1=BCL6;refseq.name2_2=BCL6;refseq.name2_3=BCL6;refseq.name_1=NM_001134738;refseq.name_2=NM_001130845;refseq.name_3=NM_001706;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L561P;refseq.proteinCoordStr_3=p.L561P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=188926122;refseq.start_2=188927239;refseq.start_3=188927239;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr3 188929726 . G A 412.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.31;MQ0=0;OQ=2398.77;QD=38.69;RankSumP=1.00000;SB=-924.65;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1161C>T;refseq.codingCoordStr_2=c.1161C>T;refseq.codingCoordStr_3=c.1161C>T;refseq.codonCoord_1=387;refseq.codonCoord_2=387;refseq.codonCoord_3=387;refseq.end_1=188929726;refseq.end_2=188929726;refseq.end_3=188929726;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1618;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1488;refseq.name2_1=BCL6;refseq.name2_2=BCL6;refseq.name2_3=BCL6;refseq.name_1=NM_001130845;refseq.name_2=NM_001134738;refseq.name_3=NM_001706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N387N;refseq.proteinCoordStr_2=p.N387N;refseq.proteinCoordStr_3=p.N387N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-195;refseq.spliceDist_2=-195;refseq.spliceDist_3=-195;refseq.start_1=188929726;refseq.start_2=188929726;refseq.start_3=188929726;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr3 188930390 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.497A>C;refseq.codingCoordStr_2=c.497A>C;refseq.codingCoordStr_3=c.497A>C;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.codonCoord_3=166;refseq.end_1=188930390;refseq.end_2=188930390;refseq.end_3=188930390;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=954;refseq.mrnaCoord_2=546;refseq.mrnaCoord_3=824;refseq.name2_1=BCL6;refseq.name2_2=BCL6;refseq.name2_3=BCL6;refseq.name_1=NM_001130845;refseq.name_2=NM_001134738;refseq.name_3=NM_001706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N166T;refseq.proteinCoordStr_2=p.N166T;refseq.proteinCoordStr_3=p.N166T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.spliceDist_3=114;refseq.start_1=188930390;refseq.start_2=188930390;refseq.start_3=188930390;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr3 189809801 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=22.11;MQ=97.95;MQ0=0;OQ=2552.09;QD=11.71;RankSumP=0.171063;SB=-1176.01;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.588C>T;refseq.codingCoordStr_2=c.588C>T;refseq.codingCoordStr_3=c.588C>T;refseq.codonCoord_1=196;refseq.codonCoord_2=196;refseq.codonCoord_3=196;refseq.end_1=189809801;refseq.end_2=189809801;refseq.end_3=189809801;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=777;refseq.mrnaCoord_2=744;refseq.mrnaCoord_3=834;refseq.name2_1=LPP;refseq.name2_2=LPP;refseq.name2_3=LPP;refseq.name_1=NM_001167671;refseq.name_2=NM_001167672;refseq.name_3=NM_005578;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I196I;refseq.proteinCoordStr_2=p.I196I;refseq.proteinCoordStr_3=p.I196I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=159;refseq.spliceDist_2=-85;refseq.spliceDist_3=159;refseq.start_1=189809801;refseq.start_2=189809801;refseq.start_3=189809801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr3 189809813 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.600A>C;refseq.codingCoordStr_2=c.600A>C;refseq.codingCoordStr_3=c.600A>C;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.codonCoord_3=200;refseq.end_1=189809813;refseq.end_2=189809813;refseq.end_3=189809813;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=789;refseq.mrnaCoord_2=756;refseq.mrnaCoord_3=846;refseq.name2_1=LPP;refseq.name2_2=LPP;refseq.name2_3=LPP;refseq.name_1=NM_001167671;refseq.name_2=NM_001167672;refseq.name_3=NM_005578;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K200N;refseq.proteinCoordStr_2=p.K200N;refseq.proteinCoordStr_3=p.K200N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=171;refseq.spliceDist_2=-73;refseq.spliceDist_3=171;refseq.start_1=189809813;refseq.start_2=189809813;refseq.start_3=189809813;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 0/1 chr3 189810155 . C T 337.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.56;MQ0=0;OQ=5055.09;QD=19.52;RankSumP=0.135172;SB=-1808.26;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.942C>T;refseq.codingCoordStr_3=c.942C>T;refseq.codonCoord_2=314;refseq.codonCoord_3=314;refseq.end_1=189908738;refseq.end_2=189810155;refseq.end_3=189810155;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1131;refseq.mrnaCoord_3=1188;refseq.name2_1=LPP;refseq.name2_2=LPP;refseq.name2_3=LPP;refseq.name_1=NM_001167672;refseq.name_2=NM_001167671;refseq.name_3=NM_005578;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D314D;refseq.proteinCoordStr_3=p.D314D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-172;refseq.spliceDist_3=-172;refseq.start_1=189809896;refseq.start_2=189810155;refseq.start_3=189810155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr3 190073140 . A G 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=9.03;MQ=98.72;MQ0=0;OQ=17964.82;QD=39.83;RankSumP=1.00000;SB=-8939.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1605A>G;refseq.codingCoordStr_2=c.1164A>G;refseq.codingCoordStr_3=c.1605A>G;refseq.codonCoord_1=535;refseq.codonCoord_2=388;refseq.codonCoord_3=535;refseq.end_1=190073140;refseq.end_2=190073140;refseq.end_3=190073140;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1794;refseq.mrnaCoord_2=1320;refseq.mrnaCoord_3=1851;refseq.name2_1=LPP;refseq.name2_2=LPP;refseq.name2_3=LPP;refseq.name_1=NM_001167671;refseq.name_2=NM_001167672;refseq.name_3=NM_005578;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R535R;refseq.proteinCoordStr_2=p.R388R;refseq.proteinCoordStr_3=p.R535R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=190073140;refseq.start_2=190073140;refseq.start_3=190073140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr3 191194704 . G A 107.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=2;HaplotypeScore=9.99;MQ=98.09;MQ0=0;OQ=4206.85;QD=20.72;RankSumP=0.317172;SB=-1667.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.153C>T;refseq.codingCoordStr_2=c.696C>T;refseq.codonCoord_1=51;refseq.codonCoord_2=232;refseq.end_1=191194704;refseq.end_2=191194704;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=451;refseq.mrnaCoord_2=1084;refseq.name2_1=LEPREL1;refseq.name2_2=LEPREL1;refseq.name_1=NM_001134418;refseq.name_2=NM_018192;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H51H;refseq.proteinCoordStr_2=p.H232H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=191194704;refseq.start_2=191194704;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr3 191195899 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.83;MQ0=0;OQ=2073.93;QD=12.57;RankSumP=0.169772;SB=-889.12;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.-37A>G;refseq.codingCoordStr_2=c.507A>G;refseq.codonCoord_2=169;refseq.end_1=191195899;refseq.end_2=191195899;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=262;refseq.mrnaCoord_2=895;refseq.name2_1=LEPREL1;refseq.name2_2=LEPREL1;refseq.name_1=NM_001134418;refseq.name_2=NM_018192;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E169E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=191195899;refseq.start_2=191195899;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr3 191513374 . A G 327.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.56;MQ0=0;OQ=9903.40;QD=36.95;RankSumP=1.00000;SB=-3521.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.369T>C;refseq.codonCoord=123;refseq.end=191513374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_021101;refseq.name2=CLDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G123G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-20;refseq.start=191513374;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr3 191588766 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0124949;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.164G>A;refseq.codonCoord=55;refseq.end=191588766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_006580;refseq.name2=CLDN16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-161;refseq.start=191588766;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr3 191588767 . G C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0207391;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.165G>C;refseq.codonCoord=55;refseq.end=191588767;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_006580;refseq.name2=CLDN16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-160;refseq.start=191588767;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr3 191588768 . G C 8289.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DP=181;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=93.26;MQ0=0;QD=45.80;RankSumP=1.00000;SB=-2052.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.166G>C;refseq.codonCoord=56;refseq.end=191588768;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_006580;refseq.name2=CLDN16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A56P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-159;refseq.start=191588768;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/1 chr3 191846288 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=99.00;MQ0=0;OQ=2295.82;QD=14.26;RankSumP=0.481125;SB=-884.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.1308G>A;refseq.codingCoordStr_2=c.1308G>A;refseq.codingCoordStr_3=c.1308G>A;refseq.codingCoordStr_4=c.1308G>A;refseq.codonCoord_1=436;refseq.codonCoord_2=436;refseq.codonCoord_3=436;refseq.codonCoord_4=436;refseq.end_1=191846288;refseq.end_2=191846288;refseq.end_3=191846288;refseq.end_4=191846288;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1729;refseq.mrnaCoord_2=1478;refseq.mrnaCoord_3=1565;refseq.mrnaCoord_4=1565;refseq.name2_1=IL1RAP;refseq.name2_2=IL1RAP;refseq.name2_3=IL1RAP;refseq.name2_4=IL1RAP;refseq.name_1=NM_001167928;refseq.name_2=NM_001167929;refseq.name_3=NM_001167931;refseq.name_4=NM_002182;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K436K;refseq.proteinCoordStr_2=p.K436K;refseq.proteinCoordStr_3=p.K436K;refseq.proteinCoordStr_4=p.K436K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=-38;refseq.start_1=191846288;refseq.start_2=191846288;refseq.start_3=191846288;refseq.start_4=191846288;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=Intersection GT 1/0 chr3 192482611 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=6;HaplotypeScore=3.77;MQ=98.63;MQ0=0;OQ=2615.68;QD=12.05;RankSumP=0.00000;SB=-1333.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.62G>T;refseq.codonCoord=21;refseq.end=192482611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_198152;refseq.name2=UTS2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S21I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-42;refseq.start=192482611;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr3 192558596 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=507;Dels=0.00;HRun=1;HaplotypeScore=20.94;MQ=98.69;MQ0=0;OQ=10575.75;QD=20.86;RankSumP=0.0269199;SB=-2800.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.228C>T;refseq.codingCoordStr_2=c.228C>T;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=192558596;refseq.end_2=192558596;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=818;refseq.mrnaCoord_2=818;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R76R;refseq.proteinCoordStr_2=p.R76R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=192558596;refseq.start_2=192558596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr3 192575747 . T C 326.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=98.70;MQ0=0;OQ=6309.22;QD=21.61;RankSumP=0.0765418;SB=-2055.20;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.651T>C;refseq.codonCoord_2=217;refseq.end_1=192580631;refseq.end_2=192575747;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1241;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H217H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=203;refseq.start_1=192570530;refseq.start_2=192575747;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr3 192575869 . T A 225.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=1.96;MQ=98.83;MQ0=0;OQ=2896.62;QD=17.45;RankSumP=0.497994;SB=-1089.24;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.773T>A;refseq.codonCoord_2=258;refseq.end_1=192580631;refseq.end_2=192575869;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1363;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I258N;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=-204;refseq.start_1=192570530;refseq.start_2=192575869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr3 192576004 . A G 297.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=99.00;MQ0=0;OQ=3135.11;QD=16.50;RankSumP=0.364053;SB=-1561.51;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.908A>G;refseq.codonCoord_2=303;refseq.end_1=192580631;refseq.end_2=192576004;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1498;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K303R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-69;refseq.start_1=192570530;refseq.start_2=192576004;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr3 192580660 . T C 159.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.48;MQ=97.70;MQ0=0;OQ=1939.39;QD=13.38;RankSumP=0.488589;SB=-484.11;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.467T>C;refseq.codingCoordStr_2=c.995T>C;refseq.codonCoord_1=156;refseq.codonCoord_2=332;refseq.end_1=192580660;refseq.end_2=192580660;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1057;refseq.mrnaCoord_2=1585;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M156T;refseq.proteinCoordStr_2=p.M332T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=192580660;refseq.start_2=192580660;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr3 192583255 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.79;MQ0=0;OQ=5152.91;QD=17.59;RankSumP=0.457715;SB=-2094.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.741C>A;refseq.codingCoordStr_2=c.1269C>A;refseq.codonCoord_1=247;refseq.codonCoord_2=423;refseq.end_1=192583255;refseq.end_2=192583255;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1331;refseq.mrnaCoord_2=1859;refseq.name2_1=CCDC50;refseq.name2_2=CCDC50;refseq.name_1=NM_174908;refseq.name_2=NM_178335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S247S;refseq.proteinCoordStr_2=p.S423S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=192583255;refseq.start_2=192583255;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr3 192661821 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.176T>C;refseq.codonCoord=59;refseq.end=192661821;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_001083308;refseq.name2=PYDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F59S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-119;refseq.start=192661821;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr3 192661823 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=120;Dels=0.00;HRun=2;HaplotypeScore=11.48;MQ=96.93;MQ0=0;OQ=85.37;QD=0.71;RankSumP=0.00000;SB=197.64;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.178A>C;refseq.codonCoord=60;refseq.end=192661823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_001083308;refseq.name2=PYDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-117;refseq.start=192661823;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 192661887 . A G 182.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.06;MQ0=0;OQ=2379.06;QD=13.67;RankSumP=0.392673;SB=-1046.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.242A>G;refseq.codonCoord=81;refseq.end=192661887;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_001083308;refseq.name2=PYDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q81R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-53;refseq.start=192661887;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr3 194477237 . A G 272.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.94;MQ0=0;OQ=2349.23;QD=16.90;RankSumP=0.448851;SB=-602.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.3392T>C;refseq.codonCoord=1131;refseq.end=194477237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3392;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1131A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=194477237;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr3 194514620 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=432;Dels=0.00;HRun=1;HaplotypeScore=9.76;MQ=98.93;MQ0=0;OQ=17822.99;QD=41.26;RankSumP=1.00000;SB=-7333.87;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.2215G>A;refseq.codonCoord=739;refseq.end=194514620;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2215;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G739S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=57;refseq.start=194514620;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr3 194519488 . G C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.52;MQ0=0;OQ=8360.77;QD=49.47;RankSumP=1.00000;SB=-4177.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.2019C>G;refseq.codonCoord=673;refseq.end=194519488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V673V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-15;refseq.start=194519488;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr3 194525426 . C G 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=1.89414e-06;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1595G>C;refseq.codonCoord=532;refseq.end=194525426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1595;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S532T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=72;refseq.start=194525426;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr3 194525427 . T G 43 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=6.50997e-05;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1594A>C;refseq.codonCoord=532;refseq.end=194525427;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S532R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=71;refseq.start=194525427;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr3 194525470 . T C 91.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=96.09;MQ0=0;OQ=2947.83;QD=35.95;RankSumP=1.00000;SB=-1345.55;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1551A>G;refseq.codonCoord=517;refseq.end=194525470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1551;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S517S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=28;refseq.start=194525470;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr3 194563108 . C G 197.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=623;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.90;MQ0=0;OQ=12614.17;QD=20.25;RankSumP=0.413224;SB=-4113.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.397G>C;refseq.codonCoord=133;refseq.end=194563108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E133Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=13;refseq.start=194563108;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr3 194563816 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=97.72;MQ0=0;OQ=2586.28;QD=12.55;RankSumP=0.334784;SB=-772.17;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.287C>A;refseq.codonCoord=96;refseq.end=194563816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_198505;refseq.name2=ATP13A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S96Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=50;refseq.start=194563816;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr3 194666511 . A G 311.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.95;MQ0=0;OQ=4244.10;QD=17.32;RankSumP=0.0914407;SB=-1267.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1269T>C;refseq.codonCoord=423;refseq.end=194666511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_032279;refseq.name2=ATP13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S423S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=194666511;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr3 194691872 . T C 182.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=14.72;MQ=98.71;MQ0=0;OQ=4170.74;QD=21.95;RankSumP=0.383957;SB=-1226.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.543A>G;refseq.codonCoord=181;refseq.end=194691872;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_032279;refseq.name2=ATP13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I181M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=194691872;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr3 194693462 . A G 253.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=99.00;MQ0=0;OQ=2237.86;QD=15.65;RankSumP=0.482300;SB=-887.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.471T>C;refseq.codonCoord=157;refseq.end=194693462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_032279;refseq.name2=ATP13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L157L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=19;refseq.start=194693462;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr3 194815499 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.chr_8=chr3;refseq.codingCoordStr_1=c.326T>G;refseq.codingCoordStr_2=c.326T>G;refseq.codingCoordStr_3=c.326T>G;refseq.codingCoordStr_4=c.326T>G;refseq.codingCoordStr_5=c.326T>G;refseq.codingCoordStr_6=c.326T>G;refseq.codingCoordStr_7=c.326T>G;refseq.codingCoordStr_8=c.326T>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.codonCoord_4=109;refseq.codonCoord_5=109;refseq.codonCoord_6=109;refseq.codonCoord_7=109;refseq.codonCoord_8=109;refseq.end_1=194815499;refseq.end_2=194815499;refseq.end_3=194815499;refseq.end_4=194815499;refseq.end_5=194815499;refseq.end_6=194815499;refseq.end_7=194815499;refseq.end_8=194815499;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=560;refseq.mrnaCoord_2=560;refseq.mrnaCoord_3=560;refseq.mrnaCoord_4=560;refseq.mrnaCoord_5=560;refseq.mrnaCoord_6=560;refseq.mrnaCoord_7=560;refseq.mrnaCoord_8=560;refseq.name2_1=OPA1;refseq.name2_2=OPA1;refseq.name2_3=OPA1;refseq.name2_4=OPA1;refseq.name2_5=OPA1;refseq.name2_6=OPA1;refseq.name2_7=OPA1;refseq.name2_8=OPA1;refseq.name_1=NM_015560;refseq.name_2=NM_130831;refseq.name_3=NM_130832;refseq.name_4=NM_130833;refseq.name_5=NM_130834;refseq.name_6=NM_130835;refseq.name_7=NM_130836;refseq.name_8=NM_130837;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.V109G;refseq.proteinCoordStr_2=p.V109G;refseq.proteinCoordStr_3=p.V109G;refseq.proteinCoordStr_4=p.V109G;refseq.proteinCoordStr_5=p.V109G;refseq.proteinCoordStr_6=p.V109G;refseq.proteinCoordStr_7=p.V109G;refseq.proteinCoordStr_8=p.V109G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceAA_8=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.referenceCodon_6=GTT;refseq.referenceCodon_7=GTT;refseq.referenceCodon_8=GTT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.spliceDist_4=-26;refseq.spliceDist_5=-26;refseq.spliceDist_6=-26;refseq.spliceDist_7=-26;refseq.spliceDist_8=-26;refseq.start_1=194815499;refseq.start_2=194815499;refseq.start_3=194815499;refseq.start_4=194815499;refseq.start_5=194815499;refseq.start_6=194815499;refseq.start_7=194815499;refseq.start_8=194815499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;refseq.variantCodon_7=GGT;refseq.variantCodon_8=GGT;set=FilteredInAll GT 1/0 chr3 194817685 . G A 214.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.95;MQ0=0;OQ=3072.53;QD=17.46;RankSumP=0.207599;SB=-885.81;SecondBestBaseQ=33;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.chr_8=chr3;refseq.codingCoordStr_5=c.473G>A;refseq.codingCoordStr_6=c.473G>A;refseq.codingCoordStr_7=c.473G>A;refseq.codingCoordStr_8=c.473G>A;refseq.codonCoord_5=158;refseq.codonCoord_6=158;refseq.codonCoord_7=158;refseq.codonCoord_8=158;refseq.end_1=194818256;refseq.end_2=194818256;refseq.end_3=194819341;refseq.end_4=194819341;refseq.end_5=194817685;refseq.end_6=194817685;refseq.end_7=194817685;refseq.end_8=194817685;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_5=707;refseq.mrnaCoord_6=707;refseq.mrnaCoord_7=707;refseq.mrnaCoord_8=707;refseq.name2_1=OPA1;refseq.name2_2=OPA1;refseq.name2_3=OPA1;refseq.name2_4=OPA1;refseq.name2_5=OPA1;refseq.name2_6=OPA1;refseq.name2_7=OPA1;refseq.name2_8=OPA1;refseq.name_1=NM_130832;refseq.name_2=NM_130835;refseq.name_3=NM_130831;refseq.name_4=NM_130833;refseq.name_5=NM_015560;refseq.name_6=NM_130834;refseq.name_7=NM_130836;refseq.name_8=NM_130837;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_5=p.S158N;refseq.proteinCoordStr_6=p.S158N;refseq.proteinCoordStr_7=p.S158N;refseq.proteinCoordStr_8=p.S158N;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_5=AGT;refseq.referenceCodon_6=AGT;refseq.referenceCodon_7=AGT;refseq.referenceCodon_8=AGT;refseq.spliceDist_5=25;refseq.spliceDist_6=25;refseq.spliceDist_7=25;refseq.spliceDist_8=25;refseq.start_1=194816264;refseq.start_2=194816264;refseq.start_3=194816264;refseq.start_4=194816264;refseq.start_5=194817685;refseq.start_6=194817685;refseq.start_7=194817685;refseq.start_8=194817685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantCodon_5=AAT;refseq.variantCodon_6=AAT;refseq.variantCodon_7=AAT;refseq.variantCodon_8=AAT;set=Intersection GT 1/0 chr3 194857658 . T C 134.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=10.87;MQ=98.96;MQ0=0;OQ=4687.51;QD=17.30;RankSumP=0.369567;SB=-1180.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.chr_5=chr3;refseq.chr_6=chr3;refseq.chr_7=chr3;refseq.chr_8=chr3;refseq.codingCoordStr_1=c.2109T>C;refseq.codingCoordStr_2=c.2001T>C;refseq.codingCoordStr_3=c.2055T>C;refseq.codingCoordStr_4=c.2112T>C;refseq.codingCoordStr_5=c.2163T>C;refseq.codingCoordStr_6=c.2166T>C;refseq.codingCoordStr_7=c.2220T>C;refseq.codingCoordStr_8=c.2274T>C;refseq.codonCoord_1=703;refseq.codonCoord_2=667;refseq.codonCoord_3=685;refseq.codonCoord_4=704;refseq.codonCoord_5=721;refseq.codonCoord_6=722;refseq.codonCoord_7=740;refseq.codonCoord_8=758;refseq.end_1=194857658;refseq.end_2=194857658;refseq.end_3=194857658;refseq.end_4=194857658;refseq.end_5=194857658;refseq.end_6=194857658;refseq.end_7=194857658;refseq.end_8=194857658;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2343;refseq.mrnaCoord_2=2235;refseq.mrnaCoord_3=2289;refseq.mrnaCoord_4=2346;refseq.mrnaCoord_5=2397;refseq.mrnaCoord_6=2400;refseq.mrnaCoord_7=2454;refseq.mrnaCoord_8=2508;refseq.name2_1=OPA1;refseq.name2_2=OPA1;refseq.name2_3=OPA1;refseq.name2_4=OPA1;refseq.name2_5=OPA1;refseq.name2_6=OPA1;refseq.name2_7=OPA1;refseq.name2_8=OPA1;refseq.name_1=NM_015560;refseq.name_2=NM_130831;refseq.name_3=NM_130832;refseq.name_4=NM_130833;refseq.name_5=NM_130834;refseq.name_6=NM_130835;refseq.name_7=NM_130836;refseq.name_8=NM_130837;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A703A;refseq.proteinCoordStr_2=p.A667A;refseq.proteinCoordStr_3=p.A685A;refseq.proteinCoordStr_4=p.A704A;refseq.proteinCoordStr_5=p.A721A;refseq.proteinCoordStr_6=p.A722A;refseq.proteinCoordStr_7=p.A740A;refseq.proteinCoordStr_8=p.A758A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.spliceDist_5=-58;refseq.spliceDist_6=-58;refseq.spliceDist_7=-58;refseq.spliceDist_8=-58;refseq.start_1=194857658;refseq.start_2=194857658;refseq.start_3=194857658;refseq.start_4=194857658;refseq.start_5=194857658;refseq.start_6=194857658;refseq.start_7=194857658;refseq.start_8=194857658;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/0 chr3 195336912 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.49A>C;refseq.codonCoord=17;refseq.end=195336912;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_005524;refseq.name2=HES1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T17P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-60;refseq.start=195336912;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr3 195543601 . C T 119.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=97.83;MQ0=0;OQ=965.86;QD=13.60;RankSumP=0.361010;SB=-98.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1526G>A;refseq.codonCoord=509;refseq.end=195543601;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1616;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W509*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-1412;refseq.start=195543601;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 0/1 chr3 195543602 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=97.85;MQ0=0;OQ=914.45;QD=12.70;RankSumP=0.217282;SB=-99.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1525T>C;refseq.codonCoord=509;refseq.end=195543602;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W509R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-1413;refseq.start=195543602;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr3 195544260 . T C 117.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=97.75;MQ0=0;OQ=1440.92;QD=12.32;RankSumP=0.154007;SB=-489.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.867A>G;refseq.codonCoord=289;refseq.end=195544260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P289P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=870;refseq.start=195544260;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 195544363 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DP=211;Dels=0.00;HRun=2;HaplotypeScore=55.46;MQ=96.10;MQ0=0;OQ=146.57;QD=0.69;RankSumP=0.0154346;SB=119.37;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.764A>C;refseq.codonCoord=255;refseq.end=195544363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H255P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=767;refseq.start=195544363;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr3 195544848 . A G 102.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=98.77;MQ0=0;OQ=1938.13;QD=11.75;RankSumP=0.393436;SB=-704.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.279T>C;refseq.codonCoord=93;refseq.end=195544848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F93F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=282;refseq.start=195544848;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr3 195544995 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=47.14;MQ=98.25;MQ0=0;OQ=4680.66;QD=13.07;RankSumP=0.0670934;SB=-315.85;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.132G>A;refseq.codonCoord=44;refseq.end=195544995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_001080513;refseq.name2=CPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=135;refseq.start=195544995;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr3 195561385 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1701T>G;refseq.codingCoordStr_2=c.1683T>G;refseq.codonCoord_1=567;refseq.codonCoord_2=561;refseq.end_1=195561385;refseq.end_2=195561385;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1826;refseq.mrnaCoord_2=1769;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C567W;refseq.proteinCoordStr_2=p.C561W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=1686;refseq.spliceDist_2=1686;refseq.start_1=195561385;refseq.start_2=195561385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr3 195561631 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=2796.37;QD=35.85;RankSumP=1.00000;SB=-1170.14;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1455T>C;refseq.codingCoordStr_2=c.1437T>C;refseq.codonCoord_1=485;refseq.codonCoord_2=479;refseq.end_1=195561631;refseq.end_2=195561631;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1580;refseq.mrnaCoord_2=1523;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P485P;refseq.proteinCoordStr_2=p.P479P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=1440;refseq.spliceDist_2=1440;refseq.start_1=195561631;refseq.start_2=195561631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr3 195561943 . A G 351.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=98.87;MQ0=0;OQ=5100.29;QD=39.85;RankSumP=1.00000;SB=-2182.90;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1143T>C;refseq.codingCoordStr_2=c.1125T>C;refseq.codonCoord_1=381;refseq.codonCoord_2=375;refseq.end_1=195561943;refseq.end_2=195561943;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1268;refseq.mrnaCoord_2=1211;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N381N;refseq.proteinCoordStr_2=p.N375N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=1128;refseq.spliceDist_2=1128;refseq.start_1=195561943;refseq.start_2=195561943;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr3 195561991 . A G 323.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.95;MQ0=0;OQ=5096.04;QD=33.09;RankSumP=1.00000;SB=-2202.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.1095T>C;refseq.codingCoordStr_2=c.1077T>C;refseq.codonCoord_1=365;refseq.codonCoord_2=359;refseq.end_1=195561991;refseq.end_2=195561991;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=1163;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N365N;refseq.proteinCoordStr_2=p.N359N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=1080;refseq.spliceDist_2=1080;refseq.start_1=195561991;refseq.start_2=195561991;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr3 195562211 . A G 289.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=5.69;MQ=98.87;MQ0=0;OQ=8754.47;QD=36.63;RankSumP=0.113155;SB=-3081.71;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.875T>C;refseq.codingCoordStr_2=c.857T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=286;refseq.end_1=195562211;refseq.end_2=195562211;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=943;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L292P;refseq.proteinCoordStr_2=p.L286P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=860;refseq.spliceDist_2=860;refseq.start_1=195562211;refseq.start_2=195562211;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=filterInsoap-gatk GT 0/1 chr3 195562278 . T C 291.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.41;MQ0=0;OQ=5130.43;QD=35.63;RankSumP=1.00000;SB=-2051.46;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.808A>G;refseq.codingCoordStr_2=c.790A>G;refseq.codonCoord_1=270;refseq.codonCoord_2=264;refseq.end_1=195562278;refseq.end_2=195562278;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=933;refseq.mrnaCoord_2=876;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I270V;refseq.proteinCoordStr_2=p.I264V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=793;refseq.spliceDist_2=793;refseq.start_1=195562278;refseq.start_2=195562278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr3 195562384 . T C 249.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.12;MQ0=0;OQ=5592.76;QD=36.32;RankSumP=1.00000;SB=-2566.72;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.702A>G;refseq.codingCoordStr_2=c.684A>G;refseq.codonCoord_1=234;refseq.codonCoord_2=228;refseq.end_1=195562384;refseq.end_2=195562384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=770;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L234L;refseq.proteinCoordStr_2=p.L228L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=687;refseq.spliceDist_2=687;refseq.start_1=195562384;refseq.start_2=195562384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr3 195562474 . A G 259.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=3.14;MQ=98.53;MQ0=0;OQ=6566.73;QD=40.04;RankSumP=1.00000;SB=-2618.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.612T>C;refseq.codingCoordStr_2=c.594T>C;refseq.codonCoord_1=204;refseq.codonCoord_2=198;refseq.end_1=195562474;refseq.end_2=195562474;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=737;refseq.mrnaCoord_2=680;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N204N;refseq.proteinCoordStr_2=p.N198N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=597;refseq.spliceDist_2=597;refseq.start_1=195562474;refseq.start_2=195562474;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr3 195562687 . A G 259.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=98.67;MQ0=0;OQ=4848.54;QD=33.91;RankSumP=1.00000;SB=-2276.25;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.399T>C;refseq.codingCoordStr_2=c.381T>C;refseq.codonCoord_1=133;refseq.codonCoord_2=127;refseq.end_1=195562687;refseq.end_2=195562687;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=524;refseq.mrnaCoord_2=467;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L133L;refseq.proteinCoordStr_2=p.L127L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=384;refseq.spliceDist_2=384;refseq.start_1=195562687;refseq.start_2=195562687;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr3 195562930 . C T 310.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.05;MQ0=0;OQ=3516.22;QD=38.64;RankSumP=1.00000;SB=-882.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.156G>A;refseq.codingCoordStr_2=c.138G>A;refseq.codonCoord_1=52;refseq.codonCoord_2=46;refseq.end_1=195562930;refseq.end_2=195562930;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=281;refseq.mrnaCoord_2=224;refseq.name2_1=LRRC15;refseq.name2_2=LRRC15;refseq.name_1=NM_001135057;refseq.name_2=NM_130830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A52A;refseq.proteinCoordStr_2=p.A46A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.start_1=195562930;refseq.start_2=195562930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr3 195600053 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=4.83458e-11;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.248A>C;refseq.codonCoord=83;refseq.end=195600053;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_004488;refseq.name2=GP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D83A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=250;refseq.start=195600053;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr3 195600163 . T C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=2.63;MQ=98.18;MQ0=0;OQ=3391.44;QD=38.54;RankSumP=1.00000;SB=-1348.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.138A>G;refseq.codonCoord=46;refseq.end=195600163;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_004488;refseq.name2=GP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L46L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=140;refseq.start=195600163;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr3 195662737 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.164T>G;refseq.codonCoord=55;refseq.end=195662737;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_024524;refseq.name2=ATP13A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V55G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-62;refseq.start=195662737;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 195819190 . T C 57.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=112.22;QD=14.03;RankSumP=1.00000;SB=-51.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.710A>G;refseq.codingCoordStr_2=c.851A>G;refseq.codingCoordStr_3=c.710A>G;refseq.codingCoordStr_4=c.710A>G;refseq.codonCoord_1=237;refseq.codonCoord_2=284;refseq.codonCoord_3=237;refseq.codonCoord_4=237;refseq.end_1=195819190;refseq.end_2=195819190;refseq.end_3=195819190;refseq.end_4=195819190;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=916;refseq.mrnaCoord_2=1057;refseq.mrnaCoord_3=916;refseq.mrnaCoord_4=916;refseq.name2_1=TMEM44;refseq.name2_2=TMEM44;refseq.name2_3=TMEM44;refseq.name2_4=TMEM44;refseq.name_1=NM_001011655;refseq.name_2=NM_001166305;refseq.name_3=NM_001166306;refseq.name_4=NM_138399;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q237R;refseq.proteinCoordStr_2=p.Q284R;refseq.proteinCoordStr_3=p.Q237R;refseq.proteinCoordStr_4=p.Q237R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.start_1=195819190;refseq.start_2=195819190;refseq.start_3=195819190;refseq.start_4=195819190;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=filterInsoap-gatk GT 1/1 chr3 195830467 . C T 174.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.53;MQ0=0;OQ=2119.67;QD=18.59;RankSumP=0.434857;SB=-973.30;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_1=c.198G>A;refseq.codingCoordStr_2=c.198G>A;refseq.codingCoordStr_3=c.198G>A;refseq.codingCoordStr_4=c.198G>A;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.codonCoord_3=66;refseq.codonCoord_4=66;refseq.end_1=195830467;refseq.end_2=195830467;refseq.end_3=195830467;refseq.end_4=195830467;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=404;refseq.mrnaCoord_3=404;refseq.mrnaCoord_4=404;refseq.name2_1=TMEM44;refseq.name2_2=TMEM44;refseq.name2_3=TMEM44;refseq.name2_4=TMEM44;refseq.name_1=NM_001011655;refseq.name_2=NM_001166305;refseq.name_3=NM_001166306;refseq.name_4=NM_138399;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A66A;refseq.proteinCoordStr_2=p.A66A;refseq.proteinCoordStr_3=p.A66A;refseq.proteinCoordStr_4=p.A66A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.spliceDist_3=61;refseq.spliceDist_4=61;refseq.start_1=195830467;refseq.start_2=195830467;refseq.start_3=195830467;refseq.start_4=195830467;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 0/1 chr3 195855121 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=402;Dels=0.00;HRun=0;HaplotypeScore=13.30;MQ=98.11;MQ0=0;OQ=16932.82;QD=42.12;RankSumP=1.00000;SB=-8104.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.799A>G;refseq.codonCoord=267;refseq.end=195855121;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1114;refseq.name=NM_018385;refseq.name2=LSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K267E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=40;refseq.start=195855121;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr3 195855122 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=15.30;MQ=98.06;MQ0=0;OQ=17532.65;QD=42.76;RankSumP=1.00000;SB=-8497.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.798C>T;refseq.codonCoord=266;refseq.end=195855122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1113;refseq.name=NM_018385;refseq.name2=LSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T266T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=39;refseq.start=195855122;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr3 195868589 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=3;HaplotypeScore=2.86;MQ=99.00;MQ0=0;OQ=4324.57;QD=43.25;RankSumP=1.00000;SB=-1325.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.228G>A;refseq.codonCoord=76;refseq.end=195868589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_018385;refseq.name2=LSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E76E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=195868589;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr3 195889591 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=188.79;QD=7.87;RankSumP=0.642537;SB=-94.92;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.747G>T;refseq.codonCoord=249;refseq.end=195889591;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1681;refseq.name=NM_153690;refseq.name2=FAM43A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K249N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-1465;refseq.start=195889591;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr3 195889993 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=6.41;MQ=97.73;MQ0=0;OQ=728.06;QD=9.84;RankSumP=0.336574;SB=-259.31;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1149A>G;refseq.codonCoord=383;refseq.end=195889993;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2083;refseq.name=NM_153690;refseq.name2=FAM43A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S383S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-1063;refseq.start=195889993;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr3 196472981 . C T 15.44 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;QD=1.72;SB=-33.63;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=196472981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_152531;refseq.name2=C3orf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=204;refseq.start=196472981;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:5:-6.32,-1.51,-10.34:48.15 chr3 196961470 . C T 93.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=99.00;MQ0=0;OQ=1347.11;QD=34.54;RankSumP=1.00000;SB=-463.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.3300G>A;refseq.codingCoordStr_2=c.15624G>A;refseq.codingCoordStr_3=c.3147G>A;refseq.codonCoord_1=1100;refseq.codonCoord_2=5208;refseq.codonCoord_3=1049;refseq.end_1=196961470;refseq.end_2=196961470;refseq.end_3=196961470;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3760;refseq.mrnaCoord_2=16084;refseq.mrnaCoord_3=3607;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q1100Q;refseq.proteinCoordStr_2=p.Q5208Q;refseq.proteinCoordStr_3=p.Q1049Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=196961470;refseq.start_2=196961470;refseq.start_3=196961470;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr3 196963457 . C T 352.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=96.94;MQ0=1;OQ=6972.90;QD=40.78;RankSumP=1.00000;SB=-2185.08;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.3137G>A;refseq.codingCoordStr_2=c.15461G>A;refseq.codingCoordStr_3=c.2984G>A;refseq.codonCoord_1=1046;refseq.codonCoord_2=5154;refseq.codonCoord_3=995;refseq.end_1=196963457;refseq.end_2=196963457;refseq.end_3=196963457;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3597;refseq.mrnaCoord_2=15921;refseq.mrnaCoord_3=3444;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1046E;refseq.proteinCoordStr_2=p.G5154E;refseq.proteinCoordStr_3=p.G995E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=196963457;refseq.start_2=196963457;refseq.start_3=196963457;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr3 196964927 . T C 320.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.53;MQ0=0;OQ=3358.90;QD=39.52;RankSumP=1.00000;SB=-1469.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.2862A>G;refseq.codingCoordStr_2=c.15186A>G;refseq.codingCoordStr_3=c.2709A>G;refseq.codonCoord_1=954;refseq.codonCoord_2=5062;refseq.codonCoord_3=903;refseq.end_1=196964927;refseq.end_2=196964927;refseq.end_3=196964927;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3322;refseq.mrnaCoord_2=15646;refseq.mrnaCoord_3=3169;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E954E;refseq.proteinCoordStr_2=p.E5062E;refseq.proteinCoordStr_3=p.E903E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=196964927;refseq.start_2=196964927;refseq.start_3=196964927;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr3 196974680 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=96.97;MQ0=0;OQ=335.74;QD=10.17;RankSumP=0.209727;SB=-77.08;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1753G>T;refseq.codingCoordStr_2=c.14077G>T;refseq.codingCoordStr_3=c.1600G>T;refseq.codonCoord_1=585;refseq.codonCoord_2=4693;refseq.codonCoord_3=534;refseq.end_1=196974680;refseq.end_2=196974680;refseq.end_3=196974680;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2213;refseq.mrnaCoord_2=14537;refseq.mrnaCoord_3=2060;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A585S;refseq.proteinCoordStr_2=p.A4693S;refseq.proteinCoordStr_3=p.A534S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=196974680;refseq.start_2=196974680;refseq.start_3=196974680;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr3 196974738 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.81;MQ0=0;OQ=445.86;QD=13.51;RankSumP=0.632037;SB=-112.67;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.1695G>C;refseq.codingCoordStr_2=c.14019G>C;refseq.codingCoordStr_3=c.1542G>C;refseq.codonCoord_1=565;refseq.codonCoord_2=4673;refseq.codonCoord_3=514;refseq.end_1=196974738;refseq.end_2=196974738;refseq.end_3=196974738;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2155;refseq.mrnaCoord_2=14479;refseq.mrnaCoord_3=2002;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S565S;refseq.proteinCoordStr_2=p.S4673S;refseq.proteinCoordStr_3=p.S514S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=196974738;refseq.start_2=196974738;refseq.start_3=196974738;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr3 196982808 . C G 133.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.87;MQ0=0;OQ=9570.98;QD=46.92;RankSumP=1.00000;SB=-2620.21;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.603G>C;refseq.codingCoordStr_2=c.12927G>C;refseq.codingCoordStr_3=c.450G>C;refseq.codonCoord_1=201;refseq.codonCoord_2=4309;refseq.codonCoord_3=150;refseq.end_1=196982808;refseq.end_2=196982808;refseq.end_3=196982808;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1063;refseq.mrnaCoord_2=13387;refseq.mrnaCoord_3=910;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M201I;refseq.proteinCoordStr_2=p.M4309I;refseq.proteinCoordStr_3=p.M150I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=196982808;refseq.start_2=196982808;refseq.start_3=196982808;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/1 chr3 196986783 . C T 462.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.84;MQ0=0;OQ=4218.73;QD=40.56;RankSumP=1.00000;SB=-1949.43;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_1=c.263G>A;refseq.codingCoordStr_2=c.12587G>A;refseq.codingCoordStr_3=c.110G>A;refseq.codonCoord_1=88;refseq.codonCoord_2=4196;refseq.codonCoord_3=37;refseq.end_1=196986783;refseq.end_2=196986783;refseq.end_3=196986783;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=13047;refseq.mrnaCoord_3=570;refseq.name2_1=MUC4;refseq.name2_2=MUC4;refseq.name2_3=MUC4;refseq.name_1=NM_004532;refseq.name_2=NM_018406;refseq.name_3=NM_138297;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G88D;refseq.proteinCoordStr_2=p.G4196D;refseq.proteinCoordStr_3=p.G37D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=196986783;refseq.start_2=196986783;refseq.start_3=196986783;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr3 197079347 . G A 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=99.00;MQ0=0;OQ=255.76;QD=11.12;RankSumP=0.269330;SB=-68.07;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.2408C>T;refseq.codingCoordStr_2=c.2174C>T;refseq.codonCoord_1=803;refseq.codonCoord_2=725;refseq.end_1=197079347;refseq.end_2=197079347;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2553;refseq.mrnaCoord_2=2717;refseq.name2_1=TNK2;refseq.name2_2=TNK2;refseq.name_1=NM_001010938;refseq.name_2=NM_005781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P803L;refseq.proteinCoordStr_2=p.P725L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=631;refseq.spliceDist_2=631;refseq.start_1=197079347;refseq.start_2=197079347;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr3 197420779 . G A 237.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.40;MQ0=0;OQ=1361.60;QD=18.65;RankSumP=0.109484;SB=-526.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.273C>T;refseq.codonCoord=91;refseq.end=197420779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_001039617;refseq.name2=ZDHHC19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S91S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=197420779;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr3 197538250 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.252C>G;refseq.codonCoord=84;refseq.end=197538250;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_138461;refseq.name2=TM4SF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.C84W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-28;refseq.start=197538250;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr3 197538836 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.01;MQ0=0;OQ=593.04;QD=9.12;RankSumP=0.267948;SB=-175.80;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.23A>C;refseq.codonCoord=8;refseq.end=197538836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_138461;refseq.name2=TM4SF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q8P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=24;refseq.start=197538836;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 197573661 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1129A>C;refseq.codonCoord=377;refseq.end=197573661;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1204;refseq.name=NM_015562;refseq.name2=UBXN7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T377P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-100;refseq.start=197573661;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr3 197865880 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.73A>C;refseq.codonCoord=25;refseq.end=197865880;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_198565;refseq.name2=LRRC33;refseq.positionType=CDS;refseq.proteinCoordStr=p.T25P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-36;refseq.start=197865880;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr3 197871361 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=14.04;MQ=98.32;MQ0=0;OQ=1524.81;QD=14.25;RankSumP=0.0985719;SB=-703.99;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.450C>G;refseq.codonCoord=150;refseq.end=197871361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_198565;refseq.name2=LRRC33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A150A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=342;refseq.start=197871361;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr3 197872496 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=582;Dels=0.00;HRun=1;HaplotypeScore=20.43;MQ=98.58;MQ0=0;OQ=12527.64;QD=21.53;RankSumP=0.124513;SB=-4892.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1585G>C;refseq.codonCoord=529;refseq.end=197872496;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_198565;refseq.name2=LRRC33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A529P;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-776;refseq.start=197872496;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr3 198014299 . G C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.445554;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.303G>C;refseq.codonCoord=101;refseq.end=198014299;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_002577;refseq.name2=PAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q101H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=15;refseq.start=198014299;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr3 198014323 . C A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=274;Dels=0.00;HRun=2;HaplotypeScore=3.71;MQ=96.04;MQ0=0;OQ=161.84;QD=0.59;RankSumP=0.391286;SB=82.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.327C>A;refseq.codonCoord=109;refseq.end=198014323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_002577;refseq.name2=PAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S109S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=39;refseq.start=198014323;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 1/0 chr3 198014375 . C T 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=313;Dels=0.00;HRun=1;HaplotypeScore=34.29;MQ=94.15;MQ0=0;OQ=1203.59;QD=3.85;RankSumP=0.232448;SB=-453.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.379C>T;refseq.codonCoord=127;refseq.end=198014375;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_002577;refseq.name2=PAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L127L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-58;refseq.start=198014375;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap-filterIngatk GT 0/1 chr3 198014410 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=295;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=96.74;MQ0=0;OQ=85.84;QD=0.29;SB=106.48;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.414A>G;refseq.codonCoord=138;refseq.end=198014410;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_002577;refseq.name2=PAK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K138K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-23;refseq.start=198014410;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:249,46:270:-93.17,-81.31,-1076.78:99 chr3 198097046 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.597C>G;refseq.codonCoord=199;refseq.end=198097046;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_152699;refseq.name2=SENP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C199W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=628;refseq.start=198097046;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr3 198097469 . A C 267.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=6.18;MQ=98.82;MQ0=0;OQ=5204.89;QD=19.87;RankSumP=0.396844;SB=-1919.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1020A>C;refseq.codonCoord=340;refseq.end=198097469;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_152699;refseq.name2=SENP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L340F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-494;refseq.start=198097469;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr3 198158629 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=1.81162e-08;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1536T>G;refseq.codonCoord=512;refseq.end=198158629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1683;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.G512G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-1019;refseq.start=198158629;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr3 198158704 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=98.01;MQ0=0;OQ=1602.14;QD=11.96;RankSumP=0.00391361;SB=-718.15;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1461G>A;refseq.codonCoord=487;refseq.end=198158704;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1608;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.M487I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-1094;refseq.start=198158704;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=filterInsoap-gatk GT 0/1 chr3 198159146 . C T 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=99.00;MQ0=0;OQ=110.95;QD=4.62;RankSumP=0.601946;SB=-80.49;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.1019G>A;refseq.codonCoord=340;refseq.end=198159146;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R340Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=808;refseq.start=198159146;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr3 198159276 . A G 241.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=5.50;MQ=98.66;MQ0=0;OQ=3876.02;QD=18.91;RankSumP=0.394530;SB=-1177.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.889T>C;refseq.codonCoord=297;refseq.end=198159276;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.L297L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=678;refseq.start=198159276;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr3 198159369 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=3.37;MQ=97.64;MQ0=0;OQ=1253.44;QD=15.29;RankSumP=0.296542;SB=-221.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr3;refseq.codingCoordStr=c.796G>A;refseq.codonCoord=266;refseq.end=198159369;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A266T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=585;refseq.start=198159369;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr3 198159370 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=97.70;MQ0=0;OQ=1033.42;QD=13.08;RankSumP=0.218575;SB=-224.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.795A>G;refseq.codonCoord=265;refseq.end=198159370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_025163;refseq.name2=PIGZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A265A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=584;refseq.start=198159370;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr3 198226687 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=99.00;MQ0=0;OQ=459.54;QD=12.09;RankSumP=0.262935;SB=-75.77;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1179A>G;refseq.codonCoord=393;refseq.end=198226687;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_005929;refseq.name2=MFI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P393P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-55;refseq.start=198226687;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr3 198227527 . T C 207.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.82;MQ0=0;OQ=2995.16;QD=15.93;RankSumP=0.193604;SB=-368.25;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1011A>G;refseq.codonCoord=337;refseq.end=198227527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_005929;refseq.name2=MFI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T337T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-71;refseq.start=198227527;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr3 198231026 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.84;MQ0=0;OQ=5024.73;QD=23.59;RankSumP=0.463860;SB=-1152.32;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_2=c.756A>G;refseq.codonCoord_2=252;refseq.end_1=198232661;refseq.end_2=198231026;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=869;refseq.name2_1=MFI2;refseq.name2_2=MFI2;refseq.name_1=NM_005929;refseq.name_2=NM_033316;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E252E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=44;refseq.start_1=198228569;refseq.start_2=198231026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr3 198349639 . C T 166.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=98.96;MQ0=0;OQ=4752.70;QD=21.03;RankSumP=0.491689;SB=-1000.95;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.codingCoordStr_1=c.833G>A;refseq.codingCoordStr_2=c.833G>A;refseq.codonCoord_1=278;refseq.codonCoord_2=278;refseq.end_1=198349639;refseq.end_2=198349639;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1023;refseq.name2_1=DLG1;refseq.name2_2=DLG1;refseq.name_1=NM_001098424;refseq.name_2=NM_004087;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R278Q;refseq.proteinCoordStr_2=p.R278Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=198349639;refseq.start_2=198349639;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr3 198979731 . G A 190.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=11.75;MQ=98.86;MQ0=0;OQ=17050.25;QD=42.73;RankSumP=1.00000;SB=-7738.98;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.codingCoordStr_2=c.182G>A;refseq.codingCoordStr_3=c.260G>A;refseq.codonCoord_2=61;refseq.codonCoord_3=87;refseq.end_1=198979731;refseq.end_2=198979731;refseq.end_3=198979731;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=420;refseq.mrnaCoord_3=479;refseq.name2_1=FYTTD1;refseq.name2_2=FYTTD1;refseq.name2_3=FYTTD1;refseq.name_1=NR_027840;refseq.name_2=NM_001011537;refseq.name_3=NM_032288;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R61H;refseq.proteinCoordStr_3=p.R87H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=198979731;refseq.start_2=198979731;refseq.start_3=198979731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr3 199050651 . T C 314.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=5107.70;QD=42.92;RankSumP=1.00000;SB=-1897.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr3;refseq.codingCoordStr=c.1314T>C;refseq.codonCoord=438;refseq.end=199050651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1319;refseq.name=NM_032773;refseq.name2=LRCH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y438Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-15;refseq.start=199050651;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr3 199247277 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr3;refseq.chr_2=chr3;refseq.chr_3=chr3;refseq.chr_4=chr3;refseq.codingCoordStr_3=c.1944T>C;refseq.codingCoordStr_4=c.1833T>C;refseq.codonCoord_3=648;refseq.codonCoord_4=611;refseq.end_1=199247277;refseq.end_2=199247277;refseq.end_3=199247277;refseq.end_4=199247277;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1845;refseq.mrnaCoord_2=1734;refseq.mrnaCoord_3=1966;refseq.mrnaCoord_4=1855;refseq.name2_1=LMLN;refseq.name2_2=LMLN;refseq.name2_3=LMLN;refseq.name2_4=LMLN;refseq.name_1=NR_026786;refseq.name_2=NR_026787;refseq.name_3=NM_001136049;refseq.name_4=NM_033029;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P648P;refseq.proteinCoordStr_4=p.P611P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=199247277;refseq.start_2=199247277;refseq.start_3=199247277;refseq.start_4=199247277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr4 357206 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=4.83;MQ=81.96;MQ0=12;OQ=81.90;QD=0.29;SB=90.18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.980C>G;refseq.codonCoord=327;refseq.end=357206;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1157;refseq.name=NM_003441;refseq.name2=ZNF141;refseq.positionType=CDS;refseq.proteinCoordStr=p.T327S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-486;refseq.start=357206;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:260,19:264:-90.96,-79.49,-1219.83:99 chr4 505643 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1527T>G;refseq.codingCoordStr_2=c.1503T>G;refseq.codonCoord_1=509;refseq.codonCoord_2=501;refseq.end_1=505643;refseq.end_2=505643;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1663;refseq.mrnaCoord_2=1639;refseq.name2_1=PIGG;refseq.name2_2=PIGG;refseq.name_1=NM_001127178;refseq.name_2=NM_017733;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G509G;refseq.proteinCoordStr_2=p.G501G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=505643;refseq.start_2=505643;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr4 638643 . G A 200.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.69;MQ0=0;OQ=10620.69;QD=40.38;RankSumP=1.00000;SB=-5222.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.958G>A;refseq.codingCoordStr_2=c.958G>A;refseq.codingCoordStr_3=c.121G>A;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.codonCoord_3=41;refseq.end_1=638643;refseq.end_2=638643;refseq.end_3=638643;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=1011;refseq.mrnaCoord_3=390;refseq.name2_1=PDE6B;refseq.name2_2=PDE6B;refseq.name2_3=PDE6B;refseq.name_1=NM_000283;refseq.name_2=NM_001145291;refseq.name_3=NM_001145292;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V320I;refseq.proteinCoordStr_2=p.V320I;refseq.proteinCoordStr_3=p.V41I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=638643;refseq.start_2=638643;refseq.start_3=638643;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/1 chr4 663778 . T C 350.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=98.90;MQ0=0;OQ=5771.89;QD=20.84;RankSumP=0.312416;SB=-1768.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.263T>C;refseq.codonCoord=88;refseq.end=663778;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_002477;refseq.name2=MYL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F88S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-30;refseq.start=663778;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr4 664299 . T G 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.294T>G;refseq.codonCoord=98;refseq.end=664299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_002477;refseq.name2=MYL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G98G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=664299;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr4 745129 . C T 125.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=2.34;MQ=98.55;MQ0=0;OQ=4326.54;QD=22.07;RankSumP=0.253365;SB=-977.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=745129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_006315;refseq.name2=PCGF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R175R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=63;refseq.start=745129;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr4 833508 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=2.25;MQ=98.74;MQ0=0;OQ=1338.17;QD=12.87;RankSumP=0.101525;SB=-539.27;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3889G>A;refseq.codonCoord=1297;refseq.end=833508;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4088;refseq.name=NM_005255;refseq.name2=GAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1297N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=55;refseq.start=833508;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr4 833695 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=98.36;MQ0=0;OQ=693.71;QD=11.96;RankSumP=0.401054;SB=-232.64;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3819T>C;refseq.codonCoord=1273;refseq.end=833695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4018;refseq.name=NM_005255;refseq.name2=GAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1273A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-16;refseq.start=833695;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr4 848924 . G A 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=9.92;MQ=91.38;MQ0=0;OQ=542.31;QD=6.46;RankSumP=0.274235;SB=-254.74;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3152C>T;refseq.codonCoord=1051;refseq.end=848924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3351;refseq.name=NM_005255;refseq.name2=GAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1051M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-15;refseq.start=848924;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr4 848941 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=90.12;MQ0=0;OQ=1814.31;QD=24.19;RankSumP=1.00000;SB=-238.10;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3135A>G;refseq.codonCoord=1045;refseq.end=848941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3334;refseq.name=NM_005255;refseq.name2=GAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1045A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-32;refseq.start=848941;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr4 850192 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.15;MQ0=0;OQ=889.61;QD=10.34;RankSumP=0.334093;SB=-294.89;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3003T>C;refseq.codonCoord=1001;refseq.end=850192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3202;refseq.name=NM_005255;refseq.name2=GAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1001S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-41;refseq.start=850192;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr4 936226 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=39.63;MQ=94.51;MQ0=1;OQ=7410.32;QD=13.62;RankSumP=0.450502;SB=-2982.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.450T>C;refseq.codonCoord=150;refseq.end=936226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_032326;refseq.name2=TMEM175;refseq.positionType=CDS;refseq.proteinCoordStr=p.I150I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-13;refseq.start=936226;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr4 939253 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.688T>G;refseq.codonCoord=230;refseq.end=939253;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_032326;refseq.name2=TMEM175;refseq.positionType=CDS;refseq.proteinCoordStr=p.C230G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-19;refseq.start=939253;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr4 951373 . G A 131.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.68;MQ0=0;OQ=2073.93;QD=18.19;RankSumP=0.326518;SB=-970.99;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.951C>T;refseq.codonCoord=317;refseq.end=951373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_001347;refseq.name2=DGKQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V317V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-37;refseq.start=951373;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr4 970896 . C A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.22;MQ0=0;OQ=113.24;QD=8.71;RankSumP=0.526515;SB=-39.37;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.24C>A;refseq.codonCoord_2=8;refseq.end_1=974905;refseq.end_2=970896;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=112;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A8A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=112;refseq.start_1=963303;refseq.start_2=970896;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr4 970932 . G A 39.02 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=19.51;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.60G>A;refseq.codonCoord_2=20;refseq.end_1=974905;refseq.end_2=970932;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=148;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A20A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-99;refseq.start_1=963303;refseq.start_2=970932;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/1 chr4 972852 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=338.61;QD=13.02;RankSumP=0.695329;SB=-30.60;SecondBestBaseQ=30;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_3=c.1875C>T;refseq.codingCoordStr_4=c.1875C>T;refseq.codonCoord_3=625;refseq.codonCoord_4=625;refseq.end_1=974905;refseq.end_2=984389;refseq.end_3=972852;refseq.end_4=972852;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1997;refseq.mrnaCoord_4=2253;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name2_3=SLC26A1;refseq.name2_4=SLC26A1;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.name_3=NM_022042;refseq.name_4=NM_213613;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.A625A;refseq.proteinCoordStr_4=p.A625A;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_3=1299;refseq.spliceDist_4=1299;refseq.start_1=963303;refseq.start_2=971748;refseq.start_3=972852;refseq.start_4=972852;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/0 chr4 973060 . T C 148.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=98.90;MQ0=0;OQ=1871.70;QD=15.86;RankSumP=0.336569;SB=-597.89;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_3=c.1667A>G;refseq.codingCoordStr_4=c.1667A>G;refseq.codonCoord_3=556;refseq.codonCoord_4=556;refseq.end_1=974905;refseq.end_2=984389;refseq.end_3=973060;refseq.end_4=973060;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1789;refseq.mrnaCoord_4=2045;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name2_3=SLC26A1;refseq.name2_4=SLC26A1;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.name_3=NM_022042;refseq.name_4=NM_213613;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.Q556R;refseq.proteinCoordStr_4=p.Q556R;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_3=1091;refseq.spliceDist_4=1091;refseq.start_1=963303;refseq.start_2=971748;refseq.start_3=973060;refseq.start_4=973060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/0 chr4 973612 . C T 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=32;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=94.83;MQ0=0;OQ=148.43;QD=4.64;RankSumP=0.703699;SB=-26.62;SecondBestBaseQ=20;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_3=c.1115G>A;refseq.codingCoordStr_4=c.1115G>A;refseq.codonCoord_3=372;refseq.codonCoord_4=372;refseq.end_1=974905;refseq.end_2=984389;refseq.end_3=973612;refseq.end_4=973612;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1237;refseq.mrnaCoord_4=1493;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name2_3=SLC26A1;refseq.name2_4=SLC26A1;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.name_3=NM_022042;refseq.name_4=NM_213613;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.R372H;refseq.proteinCoordStr_4=p.R372H;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_3=539;refseq.spliceDist_4=539;refseq.start_1=963303;refseq.start_2=971748;refseq.start_3=973612;refseq.start_4=973612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=soap-filterIngatk GT 0/1 chr4 973809 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.44;MQ0=0;OQ=423.49;QD=14.12;RankSumP=0.0497883;SB=-114.97;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_3=c.918G>A;refseq.codingCoordStr_4=c.918G>A;refseq.codonCoord_3=306;refseq.codonCoord_4=306;refseq.end_1=974905;refseq.end_2=984389;refseq.end_3=973809;refseq.end_4=973809;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1040;refseq.mrnaCoord_4=1296;refseq.name2_1=SLC26A1;refseq.name2_2=IDUA;refseq.name2_3=SLC26A1;refseq.name2_4=SLC26A1;refseq.name_1=NM_134425;refseq.name_2=NM_000203;refseq.name_3=NM_022042;refseq.name_4=NM_213613;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.S306S;refseq.proteinCoordStr_4=p.S306S;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_3=342;refseq.spliceDist_4=342;refseq.start_1=963303;refseq.start_2=971748;refseq.start_3=973809;refseq.start_4=973809;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 0/1 chr4 984452 . C T 240.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.61;MQ0=0;OQ=6718.56;QD=42.26;RankSumP=1.00000;SB=-2633.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.352C>T;refseq.codonCoord=118;refseq.end=984452;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_000203;refseq.name2=IDUA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L118L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-34;refseq.start=984452;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr4 996333 . G A 21.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.23;MQ0=0;OQ=119.88;QD=29.97;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.60G>A;refseq.codingCoordStr_2=c.60G>A;refseq.codingCoordStr_3=c.60G>A;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.codonCoord_3=20;refseq.end_1=996333;refseq.end_2=996333;refseq.end_3=996333;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=209;refseq.mrnaCoord_2=92;refseq.mrnaCoord_3=82;refseq.name2_1=FGFRL1;refseq.name2_2=FGFRL1;refseq.name2_3=FGFRL1;refseq.name_1=NM_001004356;refseq.name_2=NM_001004358;refseq.name_3=NM_021923;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P20P;refseq.proteinCoordStr_2=p.P20P;refseq.proteinCoordStr_3=p.P20P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=996333;refseq.start_2=996333;refseq.start_3=996333;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=filterInsoap-gatk GT 1/1 chr4 1006030 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.000781571;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.119T>G;refseq.codingCoordStr_2=c.119T>G;refseq.codingCoordStr_3=c.119T>G;refseq.codonCoord_1=40;refseq.codonCoord_2=40;refseq.codonCoord_3=40;refseq.end_1=1006030;refseq.end_2=1006030;refseq.end_3=1006030;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=268;refseq.mrnaCoord_2=151;refseq.mrnaCoord_3=141;refseq.name2_1=FGFRL1;refseq.name2_2=FGFRL1;refseq.name2_3=FGFRL1;refseq.name_1=NM_001004356;refseq.name_2=NM_001004358;refseq.name_3=NM_021923;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V40G;refseq.proteinCoordStr_2=p.V40G;refseq.proteinCoordStr_3=p.V40G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=1006030;refseq.start_2=1006030;refseq.start_3=1006030;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr4 1080625 . G A 324.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.31;MQ0=0;OQ=2594.22;QD=42.53;RankSumP=1.00000;SB=-482.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.174C>T;refseq.codingCoordStr_2=c.174C>T;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=1080625;refseq.end_2=1080625;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=504;refseq.name2_1=RNF212;refseq.name2_2=RNF212;refseq.name_1=NM_001131034;refseq.name_2=NM_194439;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T58T;refseq.proteinCoordStr_2=p.T58T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=1080625;refseq.start_2=1080625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr4 1154277 . C G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=96.10;MQ0=0;OQ=1163.22;QD=27.05;RankSumP=1.00000;SB=-114.85;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.724G>C;refseq.codingCoordStr_2=c.724G>C;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.end_1=1154277;refseq.end_2=1154277;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=976;refseq.mrnaCoord_2=1037;refseq.name2_1=SPON2;refseq.name2_2=SPON2;refseq.name_1=NM_001128325;refseq.name_2=NM_012445;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V242L;refseq.proteinCoordStr_2=p.V242L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=1154277;refseq.start_2=1154277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr4 1155130 . G T 102.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.90;MQ0=0;OQ=1660.79;QD=29.66;RankSumP=1.00000;SB=-197.94;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.365C>A;refseq.codingCoordStr_2=c.365C>A;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=1155130;refseq.end_2=1155130;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=617;refseq.mrnaCoord_2=678;refseq.name2_1=SPON2;refseq.name2_2=SPON2;refseq.name_1=NM_001128325;refseq.name_2=NM_012445;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A122E;refseq.proteinCoordStr_2=p.A122E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=1155130;refseq.start_2=1155130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr4 1155741 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=3;HaplotypeScore=9.80;MQ=98.79;MQ0=0;OQ=6512.79;QD=34.64;RankSumP=1.00000;SB=-1849.84;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.119T>C;refseq.codingCoordStr_3=c.119T>C;refseq.codonCoord_2=40;refseq.codonCoord_3=40;refseq.end_1=1155741;refseq.end_2=1155741;refseq.end_3=1155741;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=371;refseq.mrnaCoord_3=432;refseq.name2_1=LOC100130872-SPON2;refseq.name2_2=SPON2;refseq.name2_3=SPON2;refseq.name_1=NR_033182;refseq.name_2=NM_001128325;refseq.name_3=NM_012445;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L40P;refseq.proteinCoordStr_3=p.L40P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.start_1=1155741;refseq.start_2=1155741;refseq.start_3=1155741;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr4 1234416 . A G 103.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.42;MQ0=0;OQ=1458.01;QD=33.14;RankSumP=1.00000;SB=-421.44;SecondBestBaseQ=2;refseq.chr=chr4;refseq.end=1234416;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=551;refseq.name=NR_033339;refseq.name2=C4orf42;refseq.positionType=non_coding_exon;refseq.spliceDist=518;refseq.start=1234416;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr4 1234879 . A G 222.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.64;MQ0=0;OQ=11523.63;QD=40.29;RankSumP=1.00000;SB=-4757.59;SecondBestBaseQ=0;refseq.chr=chr4;refseq.end=1234879;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1014;refseq.name=NR_033339;refseq.name2=C4orf42;refseq.positionType=non_coding_exon;refseq.spliceDist=981;refseq.start=1234879;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr4 1295880 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=0.000555084;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.183C>G;refseq.codingCoordStr_2=c.183C>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=1295880;refseq.end_2=1295880;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=213;refseq.mrnaCoord_2=213;refseq.name2_1=MAEA;refseq.name2_2=MAEA;refseq.name_1=NM_001017405;refseq.name_2=NM_005882;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C61W;refseq.proteinCoordStr_2=p.C61W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=1295880;refseq.start_2=1295880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr4 1320759 . T C 91.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=1;HaplotypeScore=12.14;MQ=98.72;MQ0=0;OQ=15857.84;QD=37.05;RankSumP=1.00000;SB=-5696.59;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.876T>C;refseq.codingCoordStr_2=c.753T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=251;refseq.end_1=1320759;refseq.end_2=1320759;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=906;refseq.mrnaCoord_2=783;refseq.name2_1=MAEA;refseq.name2_2=MAEA;refseq.name_1=NM_001017405;refseq.name_2=NM_005882;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A292A;refseq.proteinCoordStr_2=p.A251A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=1320759;refseq.start_2=1320759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr4 1333405 . T C 420.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=99.06;MQ0=0;OQ=6139.14;QD=36.98;RankSumP=1.00000;SB=-2557.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=1333405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_020894;refseq.name2=KIAA1530;refseq.positionType=CDS;refseq.proteinCoordStr=p.I64I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=94;refseq.start=1333405;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr4 1359885 . G A 72.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=98.59;MQ0=0;OQ=703.66;QD=23.46;RankSumP=1.00000;SB=-370.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1497G>A;refseq.codonCoord=499;refseq.end=1359885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1944;refseq.name=NM_020894;refseq.name2=KIAA1530;refseq.positionType=CDS;refseq.proteinCoordStr=p.A499A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=64;refseq.start=1359885;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr4 1364695 . C A 81.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=6.26;MQ=96.50;MQ0=0;OQ=2399.46;QD=33.33;RankSumP=1.00000;SB=-986.64;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1780C>A;refseq.codonCoord=594;refseq.end=1364695;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2227;refseq.name=NM_020894;refseq.name2=KIAA1530;refseq.positionType=CDS;refseq.proteinCoordStr=p.R594R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=28;refseq.start=1364695;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 1364774 . C T 62.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=97.41;MQ0=0;OQ=1049.51;QD=30.87;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1859C>T;refseq.codonCoord=620;refseq.end=1364774;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2306;refseq.name=NM_020894;refseq.name2=KIAA1530;refseq.positionType=CDS;refseq.proteinCoordStr=p.P620L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=1364774;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 1367615 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=54.14;MQ=98.16;MQ0=0;OQ=9057.81;QD=25.44;RankSumP=1.00000;SB=-306.46;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1923A>G;refseq.codonCoord=641;refseq.end=1367615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2370;refseq.name=NM_020894;refseq.name2=KIAA1530;refseq.positionType=CDS;refseq.proteinCoordStr=p.S641S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=62;refseq.start=1367615;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 1/1 chr4 1378324 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=784;Dels=0.00;HRun=2;HaplotypeScore=41.31;MQ=89.88;MQ0=4;OQ=1791.23;QD=2.28;SB=-808.47;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.25A>C;refseq.codonCoord=9;refseq.end=1378324;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2985;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.N9H;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1459;refseq.start=1378324;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:595,186:664:-382.35,-199.95,-2159.51:99 chr4 1378350 . G A 76 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1093;Dels=0.00;HRun=0;HaplotypeScore=90.09;MQ=85.58;MQ0=17;OQ=18790.60;QD=17.19;RankSumP=0.00153051;SB=-4701.21;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.51G>A;refseq.codonCoord=17;refseq.end=1378350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3011;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T17T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1433;refseq.start=1378350;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr4 1378378 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1272;Dels=0.00;HRun=0;HaplotypeScore=600.04;MQ=82.59;MQ0=22;OQ=712.00;QD=0.56;RankSumP=0.00000;SB=236.15;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.79T>C;refseq.codonCoord=27;refseq.end=1378378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3039;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C27R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1405;refseq.start=1378378;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/0 chr4 1378379 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1280;Dels=0.00;HRun=0;HaplotypeScore=962.66;MQ=82.45;MQ0=23;OQ=366.52;QD=0.29;RankSumP=0.00000;SB=257.57;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.80G>A;refseq.codonCoord=27;refseq.end=1378379;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3040;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C27Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1404;refseq.start=1378379;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/0 chr4 1378413 . T C 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DP=1430;Dels=0.00;HRun=1;HaplotypeScore=181.62;MQ=81.09;MQ0=50;OQ=43001.75;QD=30.07;RankSumP=1.00000;SB=-19721.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.114T>C;refseq.codonCoord=38;refseq.end=1378413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3074;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C38C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1370;refseq.start=1378413;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 1/1 chr4 1378429 . G A 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DP=1545;Dels=0.00;HRun=0;HaplotypeScore=139.53;MQ=81.02;MQ0=68;OQ=43674.50;QD=28.27;RankSumP=1.00000;SB=-16008.46;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.130G>A;refseq.codonCoord=44;refseq.end=1378429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3090;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A44T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1354;refseq.start=1378429;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/1 chr4 1378583 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=989;Dels=0.00;HRun=0;HaplotypeScore=49.43;MQ=89.72;MQ0=0;OQ=32685.67;QD=33.05;RankSumP=1.00000;SB=-11796.14;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.284A>G;refseq.codonCoord=95;refseq.end=1378583;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3244;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H95R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1200;refseq.start=1378583;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/1 chr4 1378622 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.323T>A;refseq.codonCoord=108;refseq.end=1378622;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3283;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L108H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-1161;refseq.start=1378622;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr4 1378625 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=0;RankSumP=0.456265;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.326C>T;refseq.codonCoord=109;refseq.end=1378625;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3286;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1158;refseq.start=1378625;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr4 1378626 . G A 2238.32 ESPStandard;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=556;Dels=0.00;HRun=0;HaplotypeScore=664.59;MQ=73.81;MQ0=63;QD=4.03;SB=-526.38;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.327G>A;refseq.codonCoord=109;refseq.end=1378626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3287;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1157;refseq.start=1378626;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:433,108:306:-319.30,-92.18,-824.08:99 chr4 1378627 . T C 1443.19 ESPStandard;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=553;Dels=0.00;HRun=0;HaplotypeScore=720.82;MQ=72.59;MQ0=69;QD=2.61;SB=-327.57;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.328T>C;refseq.codonCoord=110;refseq.end=1378627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3288;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C110R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1156;refseq.start=1378627;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:424,110:294:-236.18,-88.58,-911.61:99 chr4 1378629 . C T 276.66 ESPStandard;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=526;Dels=0.00;HRun=0;HaplotypeScore=414.02;MQ=69.74;MQ0=75;QD=0.53;SB=91.45;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.330C>T;refseq.codonCoord=110;refseq.end=1378629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3290;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C110C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1154;refseq.start=1378629;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:480,41:266:-111.05,-80.11,-962.53:99 chr4 1378631 . C G 6154.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=511;Dels=0.00;HRun=0;HaplotypeScore=183.74;MQ=66.37;MQ0=91;QD=12.04;RankSumP=0.0619849;SB=-547.14;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.332C>G;refseq.codonCoord=111;refseq.end=1378631;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3292;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P111R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-1152;refseq.start=1378631;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap-filterIngatk GT 1/0 chr4 1378635 . T C 2998.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=499;Dels=0.00;HRun=0;HaplotypeScore=120.85;MQ=63.39;MQ0=106;QD=6.01;RankSumP=0.227728;SB=-448.31;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.336T>C;refseq.codonCoord=112;refseq.end=1378635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3296;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C112C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1148;refseq.start=1378635;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 1/0 chr4 1378657 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.459892;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.358G>A;refseq.codonCoord=120;refseq.end=1378657;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3318;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V120M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1126;refseq.start=1378657;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr4 1378664 . T C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.410706;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.365T>C;refseq.codonCoord=122;refseq.end=1378664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3325;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.M122T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-1119;refseq.start=1378664;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr4 1378693 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=535;Dels=0.00;HRun=0;HaplotypeScore=103.13;MQ=38.74;MQ0=267;OQ=5134.55;QD=9.60;RankSumP=0.0169472;SB=-958.51;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.394C>G;refseq.codonCoord=132;refseq.end=1378693;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3354;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H132D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1090;refseq.start=1378693;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 1/0 chr4 1378695 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=1.82064e-05;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.396T>C;refseq.codonCoord=132;refseq.end=1378695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3356;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H132H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1088;refseq.start=1378695;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr4 1378724 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DP=360;Dels=0.00;HRun=0;HaplotypeScore=155.32;MQ=37.69;MQ0=235;OQ=1411.29;QD=3.92;RankSumP=0.0736046;SB=-459.83;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.425C>G;refseq.codonCoord=142;refseq.end=1378724;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3385;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-1059;refseq.start=1378724;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap-filterIngatk GT 1/0 chr4 1378726 . T C 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DP=354;Dels=0.00;HRun=0;HaplotypeScore=151.63;MQ=38.25;MQ0=226;OQ=140.25;QD=0.40;RankSumP=0.0446794;SB=-87.50;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.427T>C;refseq.codonCoord=143;refseq.end=1378726;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3387;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C143R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1057;refseq.start=1378726;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/0 chr4 1378755 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=316;Dels=0.00;HRun=0;HaplotypeScore=91.60;MQ=38.77;MQ0=145;OQ=1337.50;QD=4.23;RankSumP=0.498030;SB=-551.42;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.456C>G;refseq.codonCoord=152;refseq.end=1378755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3416;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P152P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1028;refseq.start=1378755;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/0 chr4 1378757 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=325;Dels=0.00;HRun=0;HaplotypeScore=87.31;MQ=38.42;MQ0=148;OQ=842.13;QD=2.59;RankSumP=0.0259532;SB=-384.51;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.458T>C;refseq.codonCoord=153;refseq.end=1378757;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3418;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.M153T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-1026;refseq.start=1378757;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/0 chr4 1378788 . C T 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.220295;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.489C>T;refseq.codonCoord=163;refseq.end=1378788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3449;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D163D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-995;refseq.start=1378788;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr4 1378790 . T C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=262;Dels=0.00;HRun=0;HaplotypeScore=54.15;MQ=37.79;MQ0=105;OQ=2196.69;QD=8.38;RankSumP=0.0609665;SB=-806.03;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.491T>C;refseq.codonCoord=164;refseq.end=1378790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3451;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V164A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-993;refseq.start=1378790;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 1/0 chr4 1378793 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=249;Dels=0.00;HRun=2;HaplotypeScore=48.47;MQ=37.84;MQ0=101;OQ=141.81;QD=0.57;SB=15.78;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.494A>G;refseq.codonCoord=165;refseq.end=1378793;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3454;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.E165G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-990;refseq.start=1378793;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:218,29:81:-41.87,-24.40,-285.17:99 chr4 1378817 . C G 144.68 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=118;Dels=0.00;HRun=0;HaplotypeScore=36.18;MQ=39.10;MQ0=59;QD=1.23;RankSumP=0.00717753;SB=26.12;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.518C>G;refseq.codonCoord=173;refseq.end=1378817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3478;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P173R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-966;refseq.start=1378817;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chr4 1378819 . T C 84.62 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=0;HaplotypeScore=48.17;MQ=39.59;MQ0=58;QD=0.74;SB=38.13;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.520T>C;refseq.codonCoord=174;refseq.end=1378819;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3480;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C174R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-964;refseq.start=1378819;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:86,26:32:-21.39,-9.65,-98.96:99 chr4 1378821 . T C 81.63 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=37.03;MQ=37.79;MQ0=55;QD=0.76;SB=29.11;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.522T>C;refseq.codonCoord=174;refseq.end=1378821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3482;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C174C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-962;refseq.start=1378821;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:72,26:26:-19.29,-7.84,-76.60:99 chr4 1378824 . A G 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.113406;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=1378824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3485;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G175G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-959;refseq.start=1378824;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr4 1378848 . A G 46.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DP=31;Dels=0.00;HRun=0;HaplotypeScore=29.15;MQ=48.87;MQ0=16;QD=1.49;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=1378848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3509;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P183P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-935;refseq.start=1378848;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 0/1 chr4 1378852 . T C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=0;RankSumP=0.166667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.553T>C;refseq.codonCoord=185;refseq.end=1378852;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3513;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.W185R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-931;refseq.start=1378852;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr4 1378867 . A C 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=11;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.568A>C;refseq.codonCoord=190;refseq.end=1378867;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3528;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.I190L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-916;refseq.start=1378867;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/1 chr4 1378891 . T C 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=14;HRun=1;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.592T>C;refseq.codonCoord=198;refseq.end=1378891;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3552;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S198P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-892;refseq.start=1378891;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr4 1378914 . T C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.229167;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.615T>C;refseq.codonCoord=205;refseq.end=1378914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3575;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C205C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-869;refseq.start=1378914;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr4 1378921 . C G 12.35 Indel;LowQual AC=1;AF=0.50;AN=2;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=50.00;MQ0=0;QD=6.17;SB=-10.00;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.622C>G;refseq.codonCoord=208;refseq.end=1378921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3582;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-862;refseq.start=1378921;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,1:1:-4.49,-0.30,-0.00:1.76 chr4 1378923 . T C 104.66 BadSOAPSNP;Indel AC=2;AF=1.00;AN=2;BestBaseQ=18;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=73.01;MQ0=0;QD=20.93;RankSumP=1.00000;SB=-41.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.624T>C;refseq.codonCoord=208;refseq.end=1378923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3584;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-860;refseq.start=1378923;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/1 chr4 1378952 . T C 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=4;DP=80;Dels=0.00;HRun=0;HaplotypeScore=19.25;MQ=53.63;MQ0=28;OQ=949.50;QD=11.87;RankSumP=1.00000;SB=-136.89;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.653T>C;refseq.codonCoord=218;refseq.end=1378952;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3613;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V218A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-831;refseq.start=1378952;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/1 chr4 1378953 . T C 0.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=6;DP=92;Dels=0.00;HRun=1;HaplotypeScore=25.01;MQ=51.04;MQ0=34;OQ=1039.38;QD=11.30;RankSumP=1.00000;SB=-144.89;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.654T>C;refseq.codonCoord=218;refseq.end=1378953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3614;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V218V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-830;refseq.start=1378953;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/1 chr4 1378974 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=419;Dels=0.00;HRun=0;HaplotypeScore=59.94;MQ=47.49;MQ0=96;OQ=4104.57;QD=9.80;RankSumP=0.344827;SB=-127.48;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.675T>C;refseq.codonCoord=225;refseq.end=1378974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3635;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D225D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-809;refseq.start=1378974;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/0 chr4 1379005 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=765;Dels=0.00;HRun=0;HaplotypeScore=98.49;MQ=51.55;MQ0=166;OQ=10424.30;QD=13.63;RankSumP=2.14314e-08;SB=-1340.84;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.706T>C;refseq.codonCoord=236;refseq.end=1379005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3666;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C236R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-778;refseq.start=1379005;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr4 1379067 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.0106794;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.768T>C;refseq.codonCoord=256;refseq.end=1379067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3728;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C256C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-716;refseq.start=1379067;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/0 chr4 1379101 . A G 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=803;Dels=0.00;HRun=2;HaplotypeScore=106.39;MQ=72.64;MQ0=30;OQ=18339.53;QD=22.84;RankSumP=0.354246;SB=-6869.35;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.802A>G;refseq.codonCoord=268;refseq.end=1379101;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3762;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S268G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-682;refseq.start=1379101;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 0/1 chr4 1379148 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.849T>C;refseq.codonCoord=283;refseq.end=1379148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3809;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H283H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-635;refseq.start=1379148;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr4 1379156 . T C 17 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=764;Dels=0.00;HRun=0;HaplotypeScore=202.18;MQ=75.66;MQ0=109;OQ=16626.36;QD=21.76;RankSumP=0.000685500;SB=-5495.75;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.857T>C;refseq.codonCoord=286;refseq.end=1379156;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3817;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.M286T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-627;refseq.start=1379156;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 1/0 chr4 1379161 . A G 55 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=770;Dels=0.00;HRun=2;HaplotypeScore=188.35;MQ=74.96;MQ0=116;OQ=17735.35;QD=23.03;RankSumP=0.00123560;SB=-6547.56;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.862A>G;refseq.codonCoord=288;refseq.end=1379161;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3822;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S288G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-622;refseq.start=1379161;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr4 1379366 . G A 38 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=1486;Dels=0.00;HRun=0;HaplotypeScore=238.86;MQ=63.77;MQ0=141;OQ=1865.84;QD=1.26;RankSumP=0.00434013;SB=-685.46;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1067G>A;refseq.codonCoord=356;refseq.end=1379366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4027;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R356H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-417;refseq.start=1379366;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr4 1379384 . C T 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00265654;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1085C>T;refseq.codonCoord=362;refseq.end=1379384;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4045;refseq.name=NM_175918;refseq.name2=CRIPAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P362L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-399;refseq.start=1379384;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr4 1690144 . A G 42.28 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=21.14;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.213T>C;refseq.codingCoordStr_2=c.213T>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=1690144;refseq.end_2=1690144;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=733;refseq.name2_1=TMEM129;refseq.name2_2=TMEM129;refseq.name_1=NM_001127266;refseq.name_2=NM_138385;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y71Y;refseq.proteinCoordStr_2=p.Y71Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=1690144;refseq.start_2=1690144;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=FilteredInAll GT 1/1 chr4 1699458 . C T 221.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=97.12;MQ0=0;OQ=3567.77;QD=33.98;RankSumP=1.00000;SB=-876.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.531C>T;refseq.codonCoord=177;refseq.end=1699458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_006342;refseq.name2=TACC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S177S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=226;refseq.start=1699458;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 1699751 . G A 176.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=99.00;MQ0=0;OQ=1288.58;QD=33.91;RankSumP=1.00000;SB=-202.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.824G>A;refseq.codonCoord=275;refseq.end=1699751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_006342;refseq.name2=TACC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C275Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=519;refseq.start=1699751;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr4 1699786 . G A 216.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=99.00;MQ0=0;OQ=2728.04;QD=40.12;RankSumP=1.00000;SB=-699.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.859G>A;refseq.codonCoord=287;refseq.end=1699786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=965;refseq.name=NM_006342;refseq.name2=TACC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G287S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-527;refseq.start=1699786;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr4 1700097 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=94.93;MQ0=0;OQ=1204.30;QD=30.88;RankSumP=1.00000;SB=-440.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1170A>G;refseq.codonCoord=390;refseq.end=1700097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1276;refseq.name=NM_006342;refseq.name2=TACC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A390A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-216;refseq.start=1700097;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr4 1702776 . G A 347.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.57;MQ0=0;OQ=1608.09;QD=34.96;RankSumP=1.00000;SB=-692.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1541G>A;refseq.codonCoord=514;refseq.end=1702776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1647;refseq.name=NM_006342;refseq.name2=TACC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G514E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-51;refseq.start=1702776;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr4 1771309 . C T 115.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=98.42;MQ0=0;OQ=2428.65;QD=13.57;RankSumP=0.488792;SB=-1029.04;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.417C>T;refseq.codingCoordStr_2=c.417C>T;refseq.codingCoordStr_3=c.417C>T;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.codonCoord_3=139;refseq.end_1=1771309;refseq.end_2=1771309;refseq.end_3=1771309;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=673;refseq.mrnaCoord_3=673;refseq.name2_1=FGFR3;refseq.name2_2=FGFR3;refseq.name2_3=FGFR3;refseq.name_1=NM_000142;refseq.name_2=NM_001163213;refseq.name_3=NM_022965;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D139D;refseq.proteinCoordStr_2=p.D139D;refseq.proteinCoordStr_3=p.D139D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=1771309;refseq.start_2=1771309;refseq.start_3=1771309;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr4 1777692 . G A 246.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.91;MQ0=0;OQ=699.20;QD=38.84;RankSumP=1.00000;SB=-333.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1953G>A;refseq.codingCoordStr_2=c.1959G>A;refseq.codingCoordStr_3=c.1617G>A;refseq.codonCoord_1=651;refseq.codonCoord_2=653;refseq.codonCoord_3=539;refseq.end_1=1777692;refseq.end_2=1777692;refseq.end_3=1777692;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2209;refseq.mrnaCoord_2=2215;refseq.mrnaCoord_3=1873;refseq.name2_1=FGFR3;refseq.name2_2=FGFR3;refseq.name2_3=FGFR3;refseq.name_1=NM_000142;refseq.name_2=NM_001163213;refseq.name_3=NM_022965;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T651T;refseq.proteinCoordStr_2=p.T653T;refseq.proteinCoordStr_3=p.T539T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=1777692;refseq.start_2=1777692;refseq.start_3=1777692;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr4 1788392 . C T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=4;HaplotypeScore=7.85;MQ=95.33;MQ0=0;OQ=10443.91;QD=41.78;RankSumP=1.00000;SB=-5032.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1791G>A;refseq.codonCoord=597;refseq.end=1788392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2088;refseq.name=NM_012318;refseq.name2=LETM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K597K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=48;refseq.start=1788392;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr4 1813173 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.293T>G;refseq.codonCoord=98;refseq.end=1813173;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_012318;refseq.name2=LETM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V98G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=150;refseq.start=1813173;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 1927666 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.97810e-05;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.2834G>C;refseq.codingCoordStr_2=c.2834G>C;refseq.codingCoordStr_3=c.2834G>C;refseq.codingCoordStr_4=c.2834G>C;refseq.codonCoord_1=945;refseq.codonCoord_2=945;refseq.codonCoord_3=945;refseq.codonCoord_4=945;refseq.end_1=1927666;refseq.end_2=1927666;refseq.end_3=1927666;refseq.end_4=1927666;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3010;refseq.mrnaCoord_2=3328;refseq.mrnaCoord_3=3148;refseq.mrnaCoord_4=2973;refseq.name2_1=WHSC1;refseq.name2_2=WHSC1;refseq.name2_3=WHSC1;refseq.name2_4=WHSC1;refseq.name_1=NM_001042424;refseq.name_2=NM_133330;refseq.name_3=NM_133331;refseq.name_4=NM_133335;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G945A;refseq.proteinCoordStr_2=p.G945A;refseq.proteinCoordStr_3=p.G945A;refseq.proteinCoordStr_4=p.G945A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.start_1=1927666;refseq.start_2=1927666;refseq.start_3=1927666;refseq.start_4=1927666;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 0/1 chr4 1955627 . G A 23.31 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.73;MQ0=0;QD=2.12;SB=-37.50;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1081C>T;refseq.codonCoord=361;refseq.end=1955627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_005663;refseq.name2=WHSC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R361W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=12;refseq.start=1955627;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:9,2:10:-8.62,-3.01,-30.73:56.13 chr4 2145531 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=925;Dels=0.00;HRun=0;HaplotypeScore=6.75;MQ=98.73;MQ0=0;OQ=17356.28;QD=18.76;RankSumP=0.490156;SB=-6212.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1323T>C;refseq.codonCoord=441;refseq.end=2145531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1323;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H441H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=14;refseq.start=2145531;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr4 2146252 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=3;HaplotypeScore=2.00;MQ=98.75;MQ0=0;OQ=2493.67;QD=14.84;RankSumP=0.251235;SB=-1057.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1273C>T;refseq.codonCoord=425;refseq.end=2146252;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R425C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=25;refseq.start=2146252;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr4 2150878 . T C 142.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.81;MQ0=0;OQ=2179.74;QD=14.25;RankSumP=0.164611;SB=-1109.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1134A>G;refseq.codonCoord=378;refseq.end=2150878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T378T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=2150878;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr4 2164744 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=1528.39;QD=12.23;RankSumP=0.457608;SB=-309.72;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1006G>A;refseq.codonCoord=336;refseq.end=2164744;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1006;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G336S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-16;refseq.start=2164744;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr4 2164751 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=1541.36;QD=11.50;RankSumP=0.173743;SB=-368.75;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.999C>T;refseq.codonCoord=333;refseq.end=2164751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=999;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G333G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-23;refseq.start=2164751;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr4 2164807 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=98.78;MQ0=0;OQ=3105.43;QD=23.35;RankSumP=0.194879;SB=-918.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.943C>T;refseq.codonCoord=315;refseq.end=2164807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P315S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=35;refseq.start=2164807;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr4 2164822 . T G 146.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.76;MQ0=0;OQ=1377.65;QD=14.06;RankSumP=0.242798;SB=-213.88;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.928A>C;refseq.codonCoord=310;refseq.end=2164822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=928;refseq.name=NM_181808;refseq.name2=POLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.M310L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=20;refseq.start=2164822;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr4 2203507 . A G 188.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=747.66;QD=20.77;RankSumP=0.377305;SB=-354.48;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1757T>C;refseq.codonCoord=586;refseq.end=2203507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_024511;refseq.name2=HAUS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I586T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=179;refseq.start=2203507;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr4 2212045 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=260;Dels=0.00;HRun=2;HaplotypeScore=25.35;MQ=97.52;MQ0=0;OQ=132.45;QD=0.51;RankSumP=0.00000;SB=357.22;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.427G>A;refseq.codonCoord=143;refseq.end=2212045;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_024511;refseq.name2=HAUS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E143K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-483;refseq.start=2212045;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 2245633 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=365;Dels=0.00;HRun=2;HaplotypeScore=28.45;MQ=98.15;MQ0=0;OQ=10553.60;QD=28.91;RankSumP=1.00000;SB=-1584.55;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.2070C>T;refseq.codingCoordStr_2=c.1950C>T;refseq.codingCoordStr_3=c.2160C>T;refseq.codonCoord_1=690;refseq.codonCoord_2=650;refseq.codonCoord_3=720;refseq.end_1=2245633;refseq.end_2=2245633;refseq.end_3=2245633;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2390;refseq.mrnaCoord_2=2513;refseq.mrnaCoord_3=2480;refseq.name2_1=ZFYVE28;refseq.name2_2=ZFYVE28;refseq.name2_3=ZFYVE28;refseq.name_1=NM_001172656;refseq.name_2=NM_001172659;refseq.name_3=NM_020972;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F690F;refseq.proteinCoordStr_2=p.F650F;refseq.proteinCoordStr_3=p.F720F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=2245633;refseq.start_2=2245633;refseq.start_3=2245633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr4 2275851 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1658.63;QD=36.86;RankSumP=1.00000;SB=-632.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1924T>C;refseq.codingCoordStr_2=c.1804T>C;refseq.codingCoordStr_3=c.2014T>C;refseq.codonCoord_1=642;refseq.codonCoord_2=602;refseq.codonCoord_3=672;refseq.end_1=2275851;refseq.end_2=2275851;refseq.end_3=2275851;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2244;refseq.mrnaCoord_2=2367;refseq.mrnaCoord_3=2334;refseq.name2_1=ZFYVE28;refseq.name2_2=ZFYVE28;refseq.name2_3=ZFYVE28;refseq.name_1=NM_001172656;refseq.name_2=NM_001172659;refseq.name_3=NM_020972;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S642P;refseq.proteinCoordStr_2=p.S602P;refseq.proteinCoordStr_3=p.S672P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=2275851;refseq.start_2=2275851;refseq.start_3=2275851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr4 2276454 . C G 11.69 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=2;HaplotypeScore=2.85;MQ=96.19;MQ0=0;QD=0.47;SB=-31.85;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1321G>C;refseq.codingCoordStr_2=c.1201G>C;refseq.codingCoordStr_3=c.1411G>C;refseq.codonCoord_1=441;refseq.codonCoord_2=401;refseq.codonCoord_3=471;refseq.end_1=2276454;refseq.end_2=2276454;refseq.end_3=2276454;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1641;refseq.mrnaCoord_2=1764;refseq.mrnaCoord_3=1731;refseq.name2_1=ZFYVE28;refseq.name2_2=ZFYVE28;refseq.name2_3=ZFYVE28;refseq.name_1=NM_001172656;refseq.name_2=NM_001172659;refseq.name_3=NM_020972;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A441P;refseq.proteinCoordStr_2=p.A401P;refseq.proteinCoordStr_3=p.A471P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=608;refseq.spliceDist_2=608;refseq.spliceDist_3=608;refseq.start_1=2276454;refseq.start_2=2276454;refseq.start_3=2276454;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:22,3:17:-9.54,-5.12,-71.57:44.22 chr4 2276669 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=241;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.30;MQ0=0;OQ=5787.15;QD=24.01;RankSumP=0.00127539;SB=-2162.88;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1106G>A;refseq.codingCoordStr_2=c.986G>A;refseq.codingCoordStr_3=c.1196G>A;refseq.codonCoord_1=369;refseq.codonCoord_2=329;refseq.codonCoord_3=399;refseq.end_1=2276669;refseq.end_2=2276669;refseq.end_3=2276669;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1426;refseq.mrnaCoord_2=1549;refseq.mrnaCoord_3=1516;refseq.name2_1=ZFYVE28;refseq.name2_2=ZFYVE28;refseq.name2_3=ZFYVE28;refseq.name_1=NM_001172656;refseq.name_2=NM_001172659;refseq.name_3=NM_020972;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R369H;refseq.proteinCoordStr_2=p.R329H;refseq.proteinCoordStr_3=p.R399H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=393;refseq.spliceDist_2=393;refseq.spliceDist_3=393;refseq.start_1=2276669;refseq.start_2=2276669;refseq.start_3=2276669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=filterInsoap-gatk GT 0/1 chr4 2310992 . T C 321.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=98.70;MQ0=0;OQ=5941.87;QD=38.09;RankSumP=1.00000;SB=-2103.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.chr_6=chr4;refseq.codingCoordStr_1=c.507A>G;refseq.codingCoordStr_2=c.507A>G;refseq.codingCoordStr_3=c.366A>G;refseq.codingCoordStr_4=c.297A>G;refseq.codingCoordStr_5=c.297A>G;refseq.codingCoordStr_6=c.507A>G;refseq.codonCoord_1=169;refseq.codonCoord_2=169;refseq.codonCoord_3=122;refseq.codonCoord_4=99;refseq.codonCoord_5=99;refseq.codonCoord_6=169;refseq.end_1=2310992;refseq.end_2=2310992;refseq.end_3=2310992;refseq.end_4=2310992;refseq.end_5=2310992;refseq.end_6=2310992;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=827;refseq.mrnaCoord_3=686;refseq.mrnaCoord_4=860;refseq.mrnaCoord_5=860;refseq.mrnaCoord_6=827;refseq.name2_1=ZFYVE28;refseq.name2_2=ZFYVE28;refseq.name2_3=ZFYVE28;refseq.name2_4=ZFYVE28;refseq.name2_5=ZFYVE28;refseq.name2_6=ZFYVE28;refseq.name_1=NM_001172656;refseq.name_2=NM_001172657;refseq.name_3=NM_001172658;refseq.name_4=NM_001172659;refseq.name_5=NM_001172660;refseq.name_6=NM_020972;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A169A;refseq.proteinCoordStr_2=p.A169A;refseq.proteinCoordStr_3=p.A122A;refseq.proteinCoordStr_4=p.A99A;refseq.proteinCoordStr_5=p.A99A;refseq.proteinCoordStr_6=p.A169A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.spliceDist_4=-15;refseq.spliceDist_5=-15;refseq.spliceDist_6=-15;refseq.start_1=2310992;refseq.start_2=2310992;refseq.start_3=2310992;refseq.start_4=2310992;refseq.start_5=2310992;refseq.start_6=2310992;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;refseq.variantCodon_6=GCG;set=Intersection GT 1/1 chr4 2631568 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.861G>C;refseq.codonCoord=287;refseq.end=2631568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_003704;refseq.name2=FAM193A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S287S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-12;refseq.start=2631568;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr4 2643836 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1397A>C;refseq.codonCoord=466;refseq.end=2643836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1748;refseq.name=NM_003704;refseq.name2=FAM193A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H466P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-62;refseq.start=2643836;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 2662454 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=2.37374e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1889A>C;refseq.codonCoord=630;refseq.end=2662454;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2240;refseq.name=NM_003704;refseq.name2=FAM193A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N630T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-42;refseq.start=2662454;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr4 2713797 . A G 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.99;MQ0=0;OQ=707.12;QD=25.25;RankSumP=1.00000;SB=-157.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.954T>C;refseq.codingCoordStr_2=c.1275T>C;refseq.codonCoord_1=318;refseq.codonCoord_2=425;refseq.end_1=2713797;refseq.end_2=2713797;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=1362;refseq.name2_1=TNIP2;refseq.name2_2=TNIP2;refseq.name_1=NM_001161527;refseq.name_2=NM_024309;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A318A;refseq.proteinCoordStr_2=p.A425A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=249;refseq.spliceDist_2=249;refseq.start_1=2713797;refseq.start_2=2713797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr4 2713885 . G A 289.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.50;MQ0=0;OQ=501.27;QD=35.80;RankSumP=1.00000;SB=-195.76;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.866C>T;refseq.codingCoordStr_2=c.1187C>T;refseq.codonCoord_1=289;refseq.codonCoord_2=396;refseq.end_1=2713885;refseq.end_2=2713885;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=988;refseq.mrnaCoord_2=1274;refseq.name2_1=TNIP2;refseq.name2_2=TNIP2;refseq.name_1=NM_001161527;refseq.name_2=NM_024309;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A289V;refseq.proteinCoordStr_2=p.A396V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=161;refseq.spliceDist_2=161;refseq.start_1=2713885;refseq.start_2=2713885;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr4 2792265 . G T 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=99.00;MQ0=0;OQ=73.57;QD=4.60;RankSumP=0.412587;SB=-3.98;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.123G>T;refseq.codingCoordStr_2=c.207G>T;refseq.codingCoordStr_3=c.294G>T;refseq.codingCoordStr_4=c.123G>T;refseq.codonCoord_1=41;refseq.codonCoord_2=69;refseq.codonCoord_3=98;refseq.codonCoord_4=41;refseq.end_1=2792265;refseq.end_2=2792265;refseq.end_3=2792265;refseq.end_4=2792265;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=243;refseq.mrnaCoord_2=386;refseq.mrnaCoord_3=333;refseq.mrnaCoord_4=384;refseq.name2_1=SH3BP2;refseq.name2_2=SH3BP2;refseq.name2_3=SH3BP2;refseq.name2_4=SH3BP2;refseq.name_1=NM_001122681;refseq.name_2=NM_001145855;refseq.name_3=NM_001145856;refseq.name_4=NM_003023;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L41L;refseq.proteinCoordStr_2=p.L69L;refseq.proteinCoordStr_3=p.L98L;refseq.proteinCoordStr_4=p.L41L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.spliceDist_4=-14;refseq.start_1=2792265;refseq.start_2=2792265;refseq.start_3=2792265;refseq.start_4=2792265;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;set=Intersection GT 0/1 chr4 2796198 . T C 329.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.63;MQ0=0;OQ=6269.45;QD=21.47;RankSumP=0.223407;SB=-2150.23;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.300T>C;refseq.codingCoordStr_2=c.384T>C;refseq.codingCoordStr_3=c.471T>C;refseq.codingCoordStr_4=c.300T>C;refseq.codonCoord_1=100;refseq.codonCoord_2=128;refseq.codonCoord_3=157;refseq.codonCoord_4=100;refseq.end_1=2796198;refseq.end_2=2796198;refseq.end_3=2796198;refseq.end_4=2796198;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=420;refseq.mrnaCoord_2=563;refseq.mrnaCoord_3=510;refseq.mrnaCoord_4=561;refseq.name2_1=SH3BP2;refseq.name2_2=SH3BP2;refseq.name2_3=SH3BP2;refseq.name2_4=SH3BP2;refseq.name_1=NM_001122681;refseq.name_2=NM_001145855;refseq.name_3=NM_001145856;refseq.name_4=NM_003023;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H100H;refseq.proteinCoordStr_2=p.H128H;refseq.proteinCoordStr_3=p.H157H;refseq.proteinCoordStr_4=p.H100H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.start_1=2796198;refseq.start_2=2796198;refseq.start_3=2796198;refseq.start_4=2796198;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 1/0 chr4 2801181 . T G 150.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=6.17;MQ=99.07;MQ0=0;OQ=1534.60;QD=14.48;RankSumP=0.360539;SB=-677.61;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.750T>G;refseq.codingCoordStr_2=c.834T>G;refseq.codingCoordStr_3=c.921T>G;refseq.codingCoordStr_4=c.750T>G;refseq.codonCoord_1=250;refseq.codonCoord_2=278;refseq.codonCoord_3=307;refseq.codonCoord_4=250;refseq.end_1=2801181;refseq.end_2=2801181;refseq.end_3=2801181;refseq.end_4=2801181;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=870;refseq.mrnaCoord_2=1013;refseq.mrnaCoord_3=960;refseq.mrnaCoord_4=1011;refseq.name2_1=SH3BP2;refseq.name2_2=SH3BP2;refseq.name2_3=SH3BP2;refseq.name2_4=SH3BP2;refseq.name_1=NM_001122681;refseq.name_2=NM_001145855;refseq.name_3=NM_001145856;refseq.name_4=NM_003023;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A250A;refseq.proteinCoordStr_2=p.A278A;refseq.proteinCoordStr_3=p.A307A;refseq.proteinCoordStr_4=p.A250A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=164;refseq.spliceDist_2=164;refseq.spliceDist_3=164;refseq.spliceDist_4=164;refseq.start_1=2801181;refseq.start_2=2801181;refseq.start_3=2801181;refseq.start_4=2801181;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr4 2876505 . G T 292.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=99.00;MQ0=0;OQ=3078.34;QD=15.79;RankSumP=0.266917;SB=-1144.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.1378G>T;refseq.codingCoordStr_2=c.1378G>T;refseq.codingCoordStr_3=c.1378G>T;refseq.codingCoordStr_4=c.1378G>T;refseq.codonCoord_1=460;refseq.codonCoord_2=460;refseq.codonCoord_3=460;refseq.codonCoord_4=460;refseq.end_1=2876505;refseq.end_2=2876505;refseq.end_3=2876505;refseq.end_4=2876505;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1566;refseq.mrnaCoord_2=1566;refseq.mrnaCoord_3=1566;refseq.mrnaCoord_4=1566;refseq.name2_1=ADD1;refseq.name2_2=ADD1;refseq.name2_3=ADD1;refseq.name2_4=ADD1;refseq.name_1=NM_001119;refseq.name_2=NM_014189;refseq.name_3=NM_014190;refseq.name_4=NM_176801;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G460W;refseq.proteinCoordStr_2=p.G460W;refseq.proteinCoordStr_3=p.G460W;refseq.proteinCoordStr_4=p.G460W;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-129;refseq.spliceDist_3=-36;refseq.spliceDist_4=-129;refseq.start_1=2876505;refseq.start_2=2876505;refseq.start_3=2876505;refseq.start_4=2876505;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=Intersection GT 0/1 chr4 2886560 . C G 210.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=982.97;QD=18.55;RankSumP=0.224606;SB=-405.07;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.1757C>G;refseq.codingCoordStr_2=c.1850C>G;refseq.codingCoordStr_3=c.1757C>G;refseq.codingCoordStr_4=c.1850C>G;refseq.codonCoord_1=586;refseq.codonCoord_2=617;refseq.codonCoord_3=586;refseq.codonCoord_4=617;refseq.end_1=2886560;refseq.end_2=2886560;refseq.end_3=2886560;refseq.end_4=2886560;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1945;refseq.mrnaCoord_2=2038;refseq.mrnaCoord_3=1945;refseq.mrnaCoord_4=2038;refseq.name2_1=ADD1;refseq.name2_2=ADD1;refseq.name2_3=ADD1;refseq.name2_4=ADD1;refseq.name_1=NM_001119;refseq.name_2=NM_014189;refseq.name_3=NM_014190;refseq.name_4=NM_176801;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S586C;refseq.proteinCoordStr_2=p.S617C;refseq.proteinCoordStr_3=p.S586C;refseq.proteinCoordStr_4=p.S617C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceDist_4=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.spliceInfo_4=splice-donor_-6;refseq.start_1=2886560;refseq.start_2=2886560;refseq.start_3=2886560;refseq.start_4=2886560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=Intersection GT 1/0 chr4 3008948 . T C 274.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=98.85;MQ0=0;OQ=2570.02;QD=16.37;RankSumP=0.0260480;SB=-689.67;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1361T>C;refseq.codingCoordStr_2=c.1457T>C;refseq.codingCoordStr_3=c.1457T>C;refseq.codonCoord_1=454;refseq.codonCoord_2=486;refseq.codonCoord_3=486;refseq.end_1=3008948;refseq.end_2=3008948;refseq.end_3=3008948;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1816;refseq.mrnaCoord_2=1912;refseq.mrnaCoord_3=1912;refseq.name2_1=GRK4;refseq.name2_2=GRK4;refseq.name2_3=GRK4;refseq.name_1=NM_001004056;refseq.name_2=NM_001004057;refseq.name_3=NM_182982;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V454A;refseq.proteinCoordStr_2=p.V486A;refseq.proteinCoordStr_3=p.V486A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=3008948;refseq.start_2=3008948;refseq.start_3=3008948;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr4 3078914 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=296;Dels=0.00;HRun=4;HaplotypeScore=20.26;MQ=98.45;MQ0=0;OQ=264.55;QD=0.89;RankSumP=0.00000;SB=381.29;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.713C>T;refseq.codonCoord=238;refseq.end=3078914;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S238F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-35;refseq.start=3078914;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr4 3106023 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2591T>G;refseq.codonCoord=864;refseq.end=3106023;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2736;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V864G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-43;refseq.start=3106023;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 3131854 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=93.55;MQ0=0;OQ=306.27;QD=20.42;RankSumP=0.115385;SB=-92.32;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3801C>T;refseq.codonCoord=1267;refseq.end=3131854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3946;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1267L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=48;refseq.start=3131854;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr4 3183630 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=98.62;MQ0=0;OQ=2639.56;QD=16.60;RankSumP=0.266705;SB=-431.13;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.6591G>A;refseq.codonCoord=2197;refseq.end=3183630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6736;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2197E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-38;refseq.start=3183630;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 3185633 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=973.78;QD=25.63;RankSumP=0.718521;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.6925T>C;refseq.codonCoord=2309;refseq.end=3185633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7070;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2309H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-28;refseq.start=3185633;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr4 3189411 . A C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=460;Dels=0.00;HRun=0;HaplotypeScore=18.68;MQ=98.41;MQ0=0;OQ=15054.57;QD=32.73;RankSumP=1.00000;SB=-1760.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.7176A>C;refseq.codonCoord=2392;refseq.end=3189411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7321;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2392L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-67;refseq.start=3189411;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr4 3197217 . A G 111.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=98.04;MQ0=0;OQ=1028.35;QD=12.85;RankSumP=0.0240533;SB=-471.16;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.7797A>G;refseq.codonCoord=2599;refseq.end=3197217;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7942;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2599L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=32;refseq.start=3197217;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr4 3200141 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.7850T>G;refseq.codonCoord=2617;refseq.end=3200141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7995;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2617G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=3200141;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 3201459 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=472;Dels=0.00;HRun=1;HaplotypeScore=4.74;MQ=98.63;MQ0=0;OQ=9436.95;QD=19.99;RankSumP=0.165892;SB=-3893.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.8157G>A;refseq.codonCoord=2719;refseq.end=3201459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8302;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2719L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=48;refseq.start=3201459;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr4 3204778 . G A 243.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.59;MQ0=0;OQ=1834.92;QD=18.53;RankSumP=0.461316;SB=-485.03;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.8356G>A;refseq.codonCoord=2786;refseq.end=3204778;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8501;refseq.name=NM_002111;refseq.name2=HTT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2786I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=91;refseq.start=3204778;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr4 3288211 . A G 172.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=7.91;MQ=98.73;MQ0=0;OQ=2826.34;QD=14.13;RankSumP=0.478831;SB=-1427.13;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.516A>G;refseq.codingCoordStr_2=c.516A>G;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=3288211;refseq.end_2=3288211;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1420;refseq.mrnaCoord_2=1420;refseq.name2_1=RGS12;refseq.name2_2=RGS12;refseq.name_1=NM_002926;refseq.name_2=NM_198229;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S172S;refseq.proteinCoordStr_2=p.S172S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=617;refseq.spliceDist_2=617;refseq.start_1=3288211;refseq.start_2=3288211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr4 3289351 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=99.00;MQ0=0;OQ=669.37;QD=11.16;RankSumP=0.690382;SB=-179.20;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1656C>T;refseq.codingCoordStr_2=c.1656C>T;refseq.codonCoord_1=552;refseq.codonCoord_2=552;refseq.end_1=3289351;refseq.end_2=3289351;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2560;refseq.mrnaCoord_2=2560;refseq.name2_1=RGS12;refseq.name2_2=RGS12;refseq.name_1=NM_002926;refseq.name_2=NM_198229;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S552S;refseq.proteinCoordStr_2=p.S552S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-226;refseq.spliceDist_2=-226;refseq.start_1=3289351;refseq.start_2=3289351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr4 3419450 . G A 156.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=98.43;MQ0=0;OQ=730.38;QD=14.32;RankSumP=0.725810;SB=-306.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1526G>A;refseq.codonCoord=509;refseq.end=3419450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1529;refseq.name=NM_001528;refseq.name2=HGFAC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R509H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=31;refseq.start=3419450;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr4 3445050 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=7.37;MQ=98.75;MQ0=0;OQ=6776.42;QD=33.71;RankSumP=1.00000;SB=-1037.72;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.220T>C;refseq.codingCoordStr_2=c.220T>C;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=3445050;refseq.end_2=3445050;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=290;refseq.mrnaCoord_2=290;refseq.name2_1=DOK7;refseq.name2_2=DOK7;refseq.name_1=NM_001164673;refseq.name_2=NM_173660;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L74L;refseq.proteinCoordStr_2=p.L74L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-112;refseq.spliceDist_2=-112;refseq.start_1=3445050;refseq.start_2=3445050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr4 3464398 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=2.53;MQ=97.26;MQ0=0;OQ=485.13;QD=8.82;RankSumP=0.0774261;SB=-129.74;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*108A>G;refseq.codingCoordStr_2=c.887A>G;refseq.codonCoord_2=296;refseq.end_1=3464398;refseq.end_2=3464398;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=946;refseq.mrnaCoord_2=957;refseq.name2_1=DOK7;refseq.name2_2=DOK7;refseq.name_1=NM_001164673;refseq.name_2=NM_173660;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q296R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.start_1=3464398;refseq.start_2=3464398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr4 3464624 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=7.81;MQ=98.71;MQ0=0;OQ=246.01;QD=8.20;RankSumP=0.131059;SB=-45.99;SecondBestBaseQ=18;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*334A>C;refseq.codingCoordStr_2=c.1113A>C;refseq.codonCoord_2=371;refseq.end_1=3464624;refseq.end_2=3464624;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1172;refseq.mrnaCoord_2=1183;refseq.name2_1=DOK7;refseq.name2_2=DOK7;refseq.name_1=NM_001164673;refseq.name_2=NM_173660;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S371S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=341;refseq.spliceDist_2=341;refseq.start_1=3464624;refseq.start_2=3464624;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr4 3464645 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=98.07;MQ0=0;OQ=108.58;QD=3.29;RankSumP=0.152590;SB=-77.54;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*355G>A;refseq.codingCoordStr_2=c.1134G>A;refseq.codonCoord_2=378;refseq.end_1=3464645;refseq.end_2=3464645;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1193;refseq.mrnaCoord_2=1204;refseq.name2_1=DOK7;refseq.name2_2=DOK7;refseq.name_1=NM_001164673;refseq.name_2=NM_173660;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A378A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=362;refseq.spliceDist_2=362;refseq.start_1=3464645;refseq.start_2=3464645;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr4 3464696 . C T 216.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=98.20;MQ0=0;OQ=746.13;QD=17.77;RankSumP=0.430550;SB=-237.89;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*406C>T;refseq.codingCoordStr_2=c.1185C>T;refseq.codonCoord_2=395;refseq.end_1=3464696;refseq.end_2=3464696;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1244;refseq.mrnaCoord_2=1255;refseq.name2_1=DOK7;refseq.name2_2=DOK7;refseq.name_1=NM_001164673;refseq.name_2=NM_173660;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y395Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=413;refseq.spliceDist_2=413;refseq.start_1=3464696;refseq.start_2=3464696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr4 4241496 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=12.20;MQ=25.72;MQ0=92;OQ=1827.83;QD=7.17;RankSumP=0.460575;SB=-247.35;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1774C>G;refseq.codonCoord=592;refseq.end=4241496;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1804;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P592A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-66;refseq.start=4241496;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr4 4241557 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0132939;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1713T>C;refseq.codonCoord=571;refseq.end=4241557;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1743;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N571N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=45;refseq.start=4241557;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr4 4241584 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.430525;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1686C>T;refseq.codonCoord=562;refseq.end=4241584;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1716;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A562A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=18;refseq.start=4241584;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr4 4249970 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=3.28967e-07;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1492G>C;refseq.codonCoord=498;refseq.end=4249970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A498P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-177;refseq.start=4249970;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr4 4249984 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=66.78;MQ=96.70;MQ0=1;OQ=1167.33;QD=3.39;RankSumP=0.000386328;SB=-445.55;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1478A>C;refseq.codonCoord=493;refseq.end=4249984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K493T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-191;refseq.start=4249984;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 1/0 chr4 4250535 . A T 125.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=361;Dels=0.00;HRun=1;HaplotypeScore=9.51;MQ=95.33;MQ0=6;OQ=13508.51;QD=37.42;RankSumP=1.00000;SB=-6174.78;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.927T>A;refseq.codonCoord=309;refseq.end=4250535;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D309E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=197;refseq.start=4250535;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr4 4255200 . T C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=46.27;MQ0=54;OQ=3146.42;QD=22.16;RankSumP=1.00000;SB=-687.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.606A>G;refseq.codonCoord=202;refseq.end=4255200;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G202G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=4255200;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr4 4265526 . T A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.287461;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.510A>T;refseq.codonCoord=170;refseq.end=4265526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P170P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-31;refseq.start=4265526;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr4 4279183 . G T 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.0950305;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.310C>A;refseq.codonCoord=104;refseq.end=4279183;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-94;refseq.start=4279183;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr4 4279357 . G T 20.90 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=89.10;MQ0=0;QD=2.09;SB=-10.00;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.136C>A;refseq.codonCoord=46;refseq.end=4279357;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=166;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R46R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=166;refseq.start=4279357;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:8,2:7:-7.48,-2.11,-20.99:53.70 chr4 4279373 . T C 37.03 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=88.04;MQ0=0;QD=4.63;SB=-10.00;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.120A>G;refseq.codonCoord=40;refseq.end=4279373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=150;refseq.name=NM_177998;refseq.name2=OTOP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E40E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=150;refseq.start=4279373;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:5,2:6:-8.79,-1.81,-17.77:69.86 chr4 4290488 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=47.64;MQ0=22;OQ=77.29;QD=0.47;RankSumP=0.713274;SB=221.76;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.402C>A;refseq.codonCoord=134;refseq.end=4290488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_032927;refseq.name2=TMEM128;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-34;refseq.start=4290488;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap-filterIngatk GT 0/1 chr4 4327033 . T C 405.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.57;MQ0=0;OQ=7007.42;QD=36.31;RankSumP=1.00000;SB=-2925.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.794A>G;refseq.codingCoordStr_2=c.794A>G;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.end_1=4327033;refseq.end_2=4327033;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=937;refseq.mrnaCoord_2=1035;refseq.name2_1=LYAR;refseq.name2_2=LYAR;refseq.name_1=NM_001145725;refseq.name_2=NM_017816;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H265R;refseq.proteinCoordStr_2=p.H265R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=4327033;refseq.start_2=4327033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr4 4355238 . C T 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=502;Dels=0.00;HRun=0;HaplotypeScore=10.27;MQ=98.47;MQ0=0;OQ=21005.59;QD=41.84;RankSumP=1.00000;SB=-10272.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.774C>T;refseq.codonCoord=258;refseq.end=4355238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_145291;refseq.name2=ZBTB49;refseq.positionType=CDS;refseq.proteinCoordStr=p.A258A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-482;refseq.start=4355238;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr4 4355423 . A C 154.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=2456.80;QD=17.80;RankSumP=0.394665;SB=-863.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.959A>C;refseq.codonCoord=320;refseq.end=4355423;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_145291;refseq.name2=ZBTB49;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y320S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-297;refseq.start=4355423;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr4 4373571 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.86;MQ0=0;OQ=808.01;QD=13.25;RankSumP=0.515533;SB=-388.37;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1925C>T;refseq.codonCoord=642;refseq.end=4373571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2100;refseq.name=NM_145291;refseq.name2=ZBTB49;refseq.positionType=CDS;refseq.proteinCoordStr=p.A642V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=304;refseq.start=4373571;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr4 4373735 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2089A>C;refseq.codonCoord=697;refseq.end=4373735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2264;refseq.name=NM_145291;refseq.name2=ZBTB49;refseq.positionType=CDS;refseq.proteinCoordStr=p.T697P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=468;refseq.start=4373735;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 4491045 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.590A>C;refseq.codonCoord=197;refseq.end=4491045;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_016930;refseq.name2=STX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.N197T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-24;refseq.start=4491045;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr4 5383905 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=424;Dels=0.00;HRun=0;HaplotypeScore=6.45;MQ=98.92;MQ0=0;OQ=8378.31;QD=19.76;RankSumP=5.26348e-06;SB=-2827.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.318C>T;refseq.codonCoord=106;refseq.end=5383905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_018401;refseq.name2=STK32B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G106G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=58;refseq.start=5383905;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr4 5499330 . A G 106.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=11.31;MQ=98.23;MQ0=0;OQ=4710.26;QD=14.36;RankSumP=0.421838;SB=-1567.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.592A>G;refseq.codonCoord=198;refseq.end=5499330;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=656;refseq.name=NM_018401;refseq.name2=STK32B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R198G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=30;refseq.start=5499330;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr4 5693175 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1542;Dels=0.00;HRun=1;HaplotypeScore=41.65;MQ=98.80;MQ0=0;OQ=30036.36;QD=19.48;RankSumP=0.474890;SB=-12139.44;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1197A>G;refseq.codingCoordStr_2=c.1437A>G;refseq.codonCoord_1=399;refseq.codonCoord_2=479;refseq.end_1=5693175;refseq.end_2=5693175;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1929;refseq.mrnaCoord_2=1491;refseq.name2_1=EVC2;refseq.name2_2=EVC2;refseq.name_1=NM_001166136;refseq.name_2=NM_147127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E399E;refseq.proteinCoordStr_2=p.E479E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=5693175;refseq.start_2=5693175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap-filterIngatk GT 1/0 chr4 5784117 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.449A>C;refseq.codonCoord=150;refseq.end=5784117;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.H150P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=65;refseq.start=5784117;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 5794410 . C T 288.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.69;MQ0=0;OQ=7610.41;QD=43.49;RankSumP=1.00000;SB=-2585.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.769C>T;refseq.codonCoord=257;refseq.end=5794410;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L257L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-33;refseq.start=5794410;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr4 5794413 . T C 424.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=7424.64;QD=42.43;RankSumP=1.00000;SB=-2340.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.772T>C;refseq.codonCoord=258;refseq.end=5794413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y258H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-30;refseq.start=5794413;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr4 5800862 . G C 101.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=97.97;MQ0=0;OQ=4235.15;QD=25.82;RankSumP=0.423228;SB=-1415.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1026G>C;refseq.codonCoord=342;refseq.end=5800862;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1210;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L342L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-73;refseq.start=5800862;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr4 5800904 . A G 244.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.57;MQ0=0;OQ=2692.19;QD=17.83;RankSumP=0.495529;SB=-1242.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1068A>G;refseq.codonCoord=356;refseq.end=5800904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L356L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-31;refseq.start=5800904;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr4 5806443 . C A 234.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=6.16;MQ=98.78;MQ0=0;OQ=3091.79;QD=38.65;RankSumP=1.00000;SB=-1018.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1346C>A;refseq.codonCoord=449;refseq.end=5806443;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T449K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=31;refseq.start=5806443;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr4 5836343 . G A 221.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=6.41;MQ=98.56;MQ0=0;OQ=2065.94;QD=17.96;RankSumP=0.0670178;SB=-214.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1727G>A;refseq.codonCoord=576;refseq.end=5836343;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1911;refseq.name=NM_153717;refseq.name2=EVC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R576Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-50;refseq.start=5836343;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr4 5889414 . C G 110.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=6.32;MQ=98.66;MQ0=0;OQ=8172.70;QD=22.21;RankSumP=0.455379;SB=-3122.63;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1431G>C;refseq.codingCoordStr_2=c.1089G>C;refseq.codonCoord_1=477;refseq.codonCoord_2=363;refseq.end_1=5889414;refseq.end_2=5889414;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1520;refseq.mrnaCoord_2=1411;refseq.name2_1=CRMP1;refseq.name2_2=CRMP1;refseq.name_1=NM_001014809;refseq.name_2=NM_001313;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T477T;refseq.proteinCoordStr_2=p.T363T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=5889414;refseq.start_2=5889414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr4 6017702 . T C 333.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=8.89;MQ=98.72;MQ0=0;OQ=4447.90;QD=18.38;RankSumP=0.00127260;SB=-1231.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.529A>G;refseq.codonCoord=177;refseq.end=6017702;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_207405;refseq.name2=C4orf50;refseq.positionType=CDS;refseq.proteinCoordStr=p.I177V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-51;refseq.start=6017702;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 1/0 chr4 6026439 . G A 387.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.93;MQ0=0;OQ=2135.07;QD=37.46;RankSumP=1.00000;SB=-771.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.256C>T;refseq.codonCoord=86;refseq.end=6026439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_207405;refseq.name2=C4orf50;refseq.positionType=CDS;refseq.proteinCoordStr=p.R86W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=31;refseq.start=6026439;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr4 6131611 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1258T>G;refseq.codingCoordStr_2=c.1258T>G;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.end_1=6131611;refseq.end_2=6131611;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1744;refseq.mrnaCoord_2=1744;refseq.name2_1=JAKMIP1;refseq.name2_2=JAKMIP1;refseq.name_1=NM_001099433;refseq.name_2=NM_144720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L420V;refseq.proteinCoordStr_2=p.L420V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=6131611;refseq.start_2=6131611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr4 6137595 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=27;RankSumP=0.00000;SecondBestBaseQ=16;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.835-2;refseq.codingCoordStr_2=c.835-2;refseq.end_1=6137595;refseq.end_2=6137595;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=JAKMIP1;refseq.name2_2=JAKMIP1;refseq.name_1=NM_001099433;refseq.name_2=NM_144720;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.start_1=6137595;refseq.start_2=6137595;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 1/0 chr4 6344597 . C G 204.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=98.61;MQ0=0;OQ=2611.90;QD=38.41;RankSumP=1.00000;SB=-1039.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.684C>G;refseq.codingCoordStr_2=c.684C>G;refseq.codonCoord_1=228;refseq.codonCoord_2=228;refseq.end_1=6344597;refseq.end_2=6344597;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=850;refseq.mrnaCoord_2=854;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R228R;refseq.proteinCoordStr_2=p.R228R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=6344597;refseq.start_2=6344597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr4 6347798 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.842A>C;refseq.codingCoordStr_2=c.842A>C;refseq.codonCoord_1=281;refseq.codonCoord_2=281;refseq.end_1=6347798;refseq.end_2=6347798;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=1012;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D281A;refseq.proteinCoordStr_2=p.D281A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=6347798;refseq.start_2=6347798;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr4 6353420 . G A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=716;Dels=0.00;HRun=0;HaplotypeScore=16.49;MQ=98.36;MQ0=0;OQ=27806.24;QD=38.84;RankSumP=1.00000;SB=-11701.32;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.997G>A;refseq.codingCoordStr_2=c.997G>A;refseq.codonCoord_1=333;refseq.codonCoord_2=333;refseq.end_1=6353420;refseq.end_2=6353420;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1163;refseq.mrnaCoord_2=1167;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V333I;refseq.proteinCoordStr_2=p.V333I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.start_1=6353420;refseq.start_2=6353420;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr4 6353608 . C T 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=635;Dels=0.00;HRun=1;HaplotypeScore=21.26;MQ=98.77;MQ0=0;OQ=25235.42;QD=39.74;RankSumP=1.00000;SB=-11207.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1185C>T;refseq.codingCoordStr_2=c.1185C>T;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.end_1=6353608;refseq.end_2=6353608;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1351;refseq.mrnaCoord_2=1355;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V395V;refseq.proteinCoordStr_2=p.V395V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=324;refseq.spliceDist_2=324;refseq.start_1=6353608;refseq.start_2=6353608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr4 6353923 . C T 269.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.85;MQ0=0;OQ=12984.23;QD=40.96;RankSumP=1.00000;SB=-6029.57;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1500C>T;refseq.codingCoordStr_2=c.1500C>T;refseq.codonCoord_1=500;refseq.codonCoord_2=500;refseq.end_1=6353923;refseq.end_2=6353923;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1666;refseq.mrnaCoord_2=1670;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N500N;refseq.proteinCoordStr_2=p.N500N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=639;refseq.spliceDist_2=639;refseq.start_1=6353923;refseq.start_2=6353923;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr4 6354255 . G A 274.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=98.41;MQ0=0;OQ=14240.13;QD=40.11;RankSumP=1.00000;SB=-6676.38;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1832G>A;refseq.codingCoordStr_2=c.1832G>A;refseq.codonCoord_1=611;refseq.codonCoord_2=611;refseq.end_1=6354255;refseq.end_2=6354255;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1998;refseq.mrnaCoord_2=2002;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R611H;refseq.proteinCoordStr_2=p.R611H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=971;refseq.spliceDist_2=971;refseq.start_1=6354255;refseq.start_2=6354255;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr4 6354711 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2288A>C;refseq.codingCoordStr_2=c.2288A>C;refseq.codonCoord_1=763;refseq.codonCoord_2=763;refseq.end_1=6354711;refseq.end_2=6354711;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2454;refseq.mrnaCoord_2=2458;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H763P;refseq.proteinCoordStr_2=p.H763P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-1182;refseq.spliceDist_2=-1182;refseq.start_1=6354711;refseq.start_2=6354711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr4 6354856 . G A 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=96.58;MQ0=0;OQ=2962.48;QD=35.27;RankSumP=1.00000;SB=-981.72;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2433G>A;refseq.codingCoordStr_2=c.2433G>A;refseq.codonCoord_1=811;refseq.codonCoord_2=811;refseq.end_1=6354856;refseq.end_2=6354856;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2599;refseq.mrnaCoord_2=2603;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K811K;refseq.proteinCoordStr_2=p.K811K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-1037;refseq.spliceDist_2=-1037;refseq.start_1=6354856;refseq.start_2=6354856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr4 6354988 . A G 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.57;MQ0=0;OQ=2192.97;QD=30.46;RankSumP=1.00000;SB=-525.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2565A>G;refseq.codingCoordStr_2=c.2565A>G;refseq.codonCoord_1=855;refseq.codonCoord_2=855;refseq.end_1=6354988;refseq.end_2=6354988;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2731;refseq.mrnaCoord_2=2735;refseq.name2_1=WFS1;refseq.name2_2=WFS1;refseq.name_1=NM_001145853;refseq.name_2=NM_006005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S855S;refseq.proteinCoordStr_2=p.S855S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-905;refseq.spliceDist_2=-905;refseq.start_1=6354988;refseq.start_2=6354988;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr4 6375987 . G A 113.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=12.55;MQ=98.41;MQ0=0;OQ=6192.93;QD=19.47;RankSumP=0.284306;SB=-2367.30;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1287C>T;refseq.codingCoordStr_2=c.1287C>T;refseq.codonCoord_1=429;refseq.codonCoord_2=429;refseq.end_1=6375987;refseq.end_2=6375987;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1657;refseq.mrnaCoord_2=1311;refseq.name2_1=PPP2R2C;refseq.name2_2=PPP2R2C;refseq.name_1=NM_020416;refseq.name_2=NM_181876;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I429I;refseq.proteinCoordStr_2=p.I429I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=235;refseq.spliceDist_2=235;refseq.start_1=6375987;refseq.start_2=6375987;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr4 6641722 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.614A>G;refseq.codonCoord=205;refseq.end=6641722;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_015274;refseq.name2=MAN2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E205G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=50;refseq.start=6641722;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr4 6647261 . G A 229.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.40;MQ0=0;OQ=10200.16;QD=39.38;RankSumP=1.00000;SB=-2109.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.958G>A;refseq.codonCoord=320;refseq.end=6647261;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_015274;refseq.name2=MAN2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V320M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-100;refseq.start=6647261;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr4 6670066 . A G 231.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=9.44;MQ=98.83;MQ0=0;OQ=11087.37;QD=34.54;RankSumP=1.00000;SB=-4771.64;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2760A>G;refseq.codonCoord=920;refseq.end=6670066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2796;refseq.name=NM_015274;refseq.name2=MAN2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L920L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-55;refseq.start=6670066;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 6670105 . G A 252.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=4.98;MQ=99.01;MQ0=0;OQ=7659.62;QD=41.40;RankSumP=1.00000;SB=-1229.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2799G>A;refseq.codonCoord=933;refseq.end=6670105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2835;refseq.name=NM_015274;refseq.name2=MAN2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V933V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-16;refseq.start=6670105;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr4 6749568 . T C 231.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=2828.19;QD=37.71;RankSumP=1.00000;SB=-300.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.186T>C;refseq.codonCoord=62;refseq.end=6749568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_005980;refseq.name2=S100P;refseq.positionType=CDS;refseq.proteinCoordStr=p.D62D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=48;refseq.start=6749568;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr4 6749607 . A C 418.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=5709.57;QD=39.38;RankSumP=1.00000;SB=-1329.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.225A>C;refseq.codonCoord=75;refseq.end=6749607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_005980;refseq.name2=S100P;refseq.positionType=CDS;refseq.proteinCoordStr=p.I75I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=87;refseq.start=6749607;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr4 6877114 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.33T>G;refseq.codingCoordStr_2=c.33T>G;refseq.codonCoord_1=11;refseq.codonCoord_2=11;refseq.end_1=6877114;refseq.end_2=6877114;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=496;refseq.name2_1=KIAA0232;refseq.name2_2=KIAA0232;refseq.name_1=NM_001100590;refseq.name_2=NM_014743;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G11G;refseq.proteinCoordStr_2=p.G11G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-199;refseq.spliceDist_2=-199;refseq.start_1=6877114;refseq.start_2=6877114;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr4 7095258 . A G 42.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=279.65;QD=31.07;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=7095258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_153376;refseq.name2=CCDC96;refseq.positionType=CDS;refseq.proteinCoordStr=p.V103V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=372;refseq.start=7095258;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/1 chr4 7816395 . G T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=214.06;QD=26.76;RankSumP=0.500000;SB=-117.13;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.2442C>A;refseq.codingCoordStr_3=c.2190C>A;refseq.codonCoord_2=814;refseq.codonCoord_3=730;refseq.end_1=7824820;refseq.end_2=7816395;refseq.end_3=7816395;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2715;refseq.mrnaCoord_3=2463;refseq.name2_1=LOC84740;refseq.name2_2=AFAP1;refseq.name2_3=AFAP1;refseq.name_1=NR_026892;refseq.name_2=NM_001134647;refseq.name_3=NM_198595;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T814T;refseq.proteinCoordStr_3=p.T730T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=7806797;refseq.start_2=7816395;refseq.start_3=7816395;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr4 7821623 . G T 304.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.93;MQ0=0;OQ=2241.32;QD=16.60;RankSumP=0.0278292;SB=-1104.50;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.2266C>A;refseq.codingCoordStr_3=c.2014C>A;refseq.codonCoord_2=756;refseq.codonCoord_3=672;refseq.end_1=7824820;refseq.end_2=7821623;refseq.end_3=7821623;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2539;refseq.mrnaCoord_3=2287;refseq.name2_1=LOC84740;refseq.name2_2=AFAP1;refseq.name2_3=AFAP1;refseq.name_1=NR_026892;refseq.name_2=NM_001134647;refseq.name_3=NM_198595;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R756R;refseq.proteinCoordStr_3=p.R672R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.start_1=7806797;refseq.start_2=7821623;refseq.start_3=7821623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 0/1 chr4 7825510 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=14.35;MQ=97.44;MQ0=0;OQ=675.36;QD=10.89;RankSumP=0.435410;SB=-131.56;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.2190G>A;refseq.codingCoordStr_3=c.1938G>A;refseq.codonCoord_2=730;refseq.codonCoord_3=646;refseq.end_1=7825510;refseq.end_2=7825510;refseq.end_3=7825510;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=750;refseq.mrnaCoord_2=2463;refseq.mrnaCoord_3=2211;refseq.name2_1=LOC84740;refseq.name2_2=AFAP1;refseq.name2_3=AFAP1;refseq.name_1=NR_026892;refseq.name_2=NM_001134647;refseq.name_3=NM_198595;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A730A;refseq.proteinCoordStr_3=p.A646A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=680;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=7825510;refseq.start_2=7825510;refseq.start_3=7825510;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr4 7831482 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=19.42;MQ=98.75;MQ0=0;OQ=6926.58;QD=21.44;RankSumP=0.178461;SB=-1271.24;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.1804G>A;refseq.codingCoordStr_3=c.1552G>A;refseq.codonCoord_2=602;refseq.codonCoord_3=518;refseq.end_1=7831482;refseq.end_2=7831482;refseq.end_3=7831482;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6722;refseq.mrnaCoord_2=2077;refseq.mrnaCoord_3=1825;refseq.name2_1=LOC84740;refseq.name2_2=AFAP1;refseq.name2_3=AFAP1;refseq.name_1=NR_026892;refseq.name_2=NM_001134647;refseq.name_3=NM_198595;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V602M;refseq.proteinCoordStr_3=p.V518M;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-71;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=7831482;refseq.start_2=7831482;refseq.start_3=7831482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr4 7853192 . G A 300.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=14.54;MQ=98.79;MQ0=0;OQ=5678.31;QD=20.21;RankSumP=0.420256;SB=-2072.41;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1143C>T;refseq.codingCoordStr_2=c.1143C>T;refseq.codonCoord_1=381;refseq.codonCoord_2=381;refseq.end_1=7853192;refseq.end_2=7853192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1416;refseq.mrnaCoord_2=1416;refseq.name2_1=AFAP1;refseq.name2_2=AFAP1;refseq.name_1=NM_001134647;refseq.name_2=NM_198595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T381T;refseq.proteinCoordStr_2=p.T381T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.start_1=7853192;refseq.start_2=7853192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr4 7853259 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1076A>C;refseq.codingCoordStr_2=c.1076A>C;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=7853259;refseq.end_2=7853259;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1349;refseq.mrnaCoord_2=1349;refseq.name2_1=AFAP1;refseq.name2_2=AFAP1;refseq.name_1=NM_001134647;refseq.name_2=NM_198595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N359T;refseq.proteinCoordStr_2=p.N359T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=7853259;refseq.start_2=7853259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr4 7908130 . C T 314.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.78;MQ0=0;OQ=7728.21;QD=38.64;RankSumP=1.00000;SB=-3358.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.297G>A;refseq.codingCoordStr_2=c.297G>A;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=7908130;refseq.end_2=7908130;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=570;refseq.mrnaCoord_2=570;refseq.name2_1=AFAP1;refseq.name2_2=AFAP1;refseq.name_1=NM_001134647;refseq.name_2=NM_198595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P99P;refseq.proteinCoordStr_2=p.P99P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=7908130;refseq.start_2=7908130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr4 8270929 . G A 158.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=7.30;MQ=98.55;MQ0=0;OQ=2459.07;QD=13.51;RankSumP=0.384560;SB=-1198.02;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.871G>A;refseq.codonCoord=291;refseq.end=8270929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=972;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D291N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=32;refseq.start=8270929;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 8279631 . T C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=4802.06;QD=39.04;RankSumP=1.00000;SB=-1344.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1310T>C;refseq.codonCoord=437;refseq.end=8279631;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L437P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=25;refseq.start=8279631;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 8279794 . T C 272.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=641.59;QD=35.64;RankSumP=1.00000;SB=-130.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1473T>C;refseq.codonCoord=491;refseq.end=8279794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1574;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D491D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=188;refseq.start=8279794;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr4 8279848 . T C 38.94 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.33;RankSumP=0.416667;SB=-3.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1527T>C;refseq.codonCoord=509;refseq.end=8279848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1628;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P509P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=242;refseq.start=8279848;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 8280118 . A G 182.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1961.95;QD=39.24;RankSumP=1.00000;SB=-788.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1797A>G;refseq.codonCoord=599;refseq.end=8280118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L599L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=512;refseq.start=8280118;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 8280226 . T C 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=513.14;QD=30.18;RankSumP=1.00000;SB=-44.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1905T>C;refseq.codonCoord=635;refseq.end=8280226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2006;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P635P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=620;refseq.start=8280226;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr4 8280613 . A G 271.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.35;MQ0=0;OQ=2443.76;QD=37.03;RankSumP=1.00000;SB=-970.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2292A>G;refseq.codonCoord=764;refseq.end=8280613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2393;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q764Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-659;refseq.start=8280613;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr4 8280674 . C T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=97.26;MQ0=0;OQ=2826.15;QD=27.71;RankSumP=1.00000;SB=-425.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2353C>T;refseq.codonCoord=785;refseq.end=8280674;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2454;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R785C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-598;refseq.start=8280674;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr4 8280970 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=6.57;MQ=98.13;MQ0=0;OQ=4762.62;QD=29.22;RankSumP=1.00000;SB=-1778.64;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2649T>C;refseq.codonCoord=883;refseq.end=8280970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2750;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A883A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-302;refseq.start=8280970;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 8281135 . T C 82.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=99.00;MQ0=0;OQ=713.03;QD=23.00;RankSumP=1.00000;SB=-297.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2814T>C;refseq.codonCoord=938;refseq.end=8281135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2915;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L938L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-137;refseq.start=8281135;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr4 8293366 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=7.65;MQ=96.16;MQ0=0;OQ=2462.92;QD=27.99;RankSumP=1.00000;SB=-1237.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3795A>G;refseq.codonCoord=1265;refseq.end=8293366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3896;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1265A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=42;refseq.start=8293366;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr4 8293399 . G A 196.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=5.49;MQ=97.33;MQ0=0;OQ=1916.03;QD=15.83;RankSumP=0.311680;SB=-813.35;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3828G>A;refseq.codonCoord=1276;refseq.end=8293399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3929;refseq.name=NM_018986;refseq.name2=SH3TC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1276Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=75;refseq.start=8293399;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr4 8434207 . A C 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1565T>G;refseq.codingCoordStr_2=c.1565T>G;refseq.codonCoord_1=522;refseq.codonCoord_2=522;refseq.end_1=8434207;refseq.end_2=8434207;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1657;refseq.mrnaCoord_2=1657;refseq.name2_1=ACOX3;refseq.name2_2=ACOX3;refseq.name_1=NM_001101667;refseq.name_2=NM_003501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V522G;refseq.proteinCoordStr_2=p.V522G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=8434207;refseq.start_2=8434207;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 0/1 chr4 8462919 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.607A>C;refseq.codingCoordStr_2=c.607A>C;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.end_1=8462919;refseq.end_2=8462919;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=699;refseq.mrnaCoord_2=699;refseq.name2_1=ACOX3;refseq.name2_2=ACOX3;refseq.name_1=NM_001101667;refseq.name_2=NM_003501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T203P;refseq.proteinCoordStr_2=p.T203P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=8462919;refseq.start_2=8462919;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr4 8528500 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.970A>C;refseq.codonCoord=324;refseq.end=8528500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_152544;refseq.name2=C4orf23;refseq.positionType=CDS;refseq.proteinCoordStr=p.T324P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=102;refseq.start=8528500;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 8633642 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=97.01;MQ0=0;OQ=345.06;QD=8.85;RankSumP=0.741841;SB=-54.05;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.33C>T;refseq.codonCoord=11;refseq.end=8633642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_080819;refseq.name2=GPR78;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=452;refseq.start=8633642;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr4 8633756 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=97.12;MQ0=0;OQ=1193.69;QD=12.84;RankSumP=0.146908;SB=-609.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.147T>G;refseq.codonCoord=49;refseq.end=8633756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_080819;refseq.name2=GPR78;refseq.positionType=CDS;refseq.proteinCoordStr=p.S49S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-522;refseq.start=8633756;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr4 8634212 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=3.47;MQ=97.12;MQ0=0;OQ=434.81;QD=13.18;RankSumP=0.601966;SB=-180.78;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.603A>C;refseq.codonCoord=201;refseq.end=8634212;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_080819;refseq.name2=GPR78;refseq.positionType=CDS;refseq.proteinCoordStr=p.R201S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-66;refseq.start=8634212;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr4 8645474 . T C 17.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=95.13;MQ0=0;OQ=54.12;QD=10.82;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.14T>C;refseq.codingCoordStr_2=c.-661T>C;refseq.codingCoordStr_3=c.14T>C;refseq.codonCoord_1=5;refseq.codonCoord_3=5;refseq.end_1=8645474;refseq.end_2=8645474;refseq.end_3=8645474;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=140;refseq.mrnaCoord_2=140;refseq.mrnaCoord_3=140;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L5P;refseq.proteinCoordStr_3=p.L5P;refseq.referenceAA_1=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.spliceDist_3=-75;refseq.start_1=8645474;refseq.start_2=8645474;refseq.start_3=8645474;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_3=CCG;set=filterInsoap-gatk GT 1/1 chr4 8653784 . T C 89.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.18;MQ0=0;OQ=2117.07;QD=30.24;RankSumP=1.00000;SB=-929.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.156T>C;refseq.codingCoordStr_2=c.-256T>C;refseq.codingCoordStr_3=c.123T>C;refseq.codonCoord_1=52;refseq.codonCoord_3=41;refseq.end_1=8653784;refseq.end_2=8653784;refseq.end_3=8653784;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=282;refseq.mrnaCoord_2=545;refseq.mrnaCoord_3=249;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S52S;refseq.proteinCoordStr_3=p.S41S;refseq.referenceAA_1=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=35;refseq.spliceDist_2=201;refseq.spliceDist_3=35;refseq.start_1=8653784;refseq.start_2=8653784;refseq.start_3=8653784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr4 8653835 . A G 245.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.53;MQ0=0;OQ=1960.04;QD=31.61;RankSumP=1.00000;SB=-962.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.207A>G;refseq.codingCoordStr_2=c.-205A>G;refseq.codingCoordStr_3=c.174A>G;refseq.codonCoord_1=69;refseq.codonCoord_3=58;refseq.end_1=8653835;refseq.end_2=8653835;refseq.end_3=8653835;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=333;refseq.mrnaCoord_2=596;refseq.mrnaCoord_3=300;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S69S;refseq.proteinCoordStr_3=p.S58S;refseq.referenceAA_1=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=86;refseq.spliceDist_2=252;refseq.spliceDist_3=86;refseq.start_1=8653835;refseq.start_2=8653835;refseq.start_3=8653835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.uorfChange_2=-1;refseq.variantAA_1=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr4 8666996 . T C 256.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.37;MQ0=0;OQ=14385.13;QD=37.66;RankSumP=1.00000;SB=-6866.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1374T>C;refseq.codingCoordStr_2=c.963T>C;refseq.codingCoordStr_3=c.1341T>C;refseq.codonCoord_1=458;refseq.codonCoord_2=321;refseq.codonCoord_3=447;refseq.end_1=8666996;refseq.end_2=8666996;refseq.end_3=8666996;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1500;refseq.mrnaCoord_2=1763;refseq.mrnaCoord_3=1467;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D458D;refseq.proteinCoordStr_2=p.D321D;refseq.proteinCoordStr_3=p.D447D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=8666996;refseq.start_2=8666996;refseq.start_3=8666996;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr4 8667079 . T C 384.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.99;MQ0=0;OQ=11021.51;QD=40.22;RankSumP=1.00000;SB=-3880.54;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1457T>C;refseq.codingCoordStr_2=c.1046T>C;refseq.codingCoordStr_3=c.1424T>C;refseq.codonCoord_1=486;refseq.codonCoord_2=349;refseq.codonCoord_3=475;refseq.end_1=8667079;refseq.end_2=8667079;refseq.end_3=8667079;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1583;refseq.mrnaCoord_2=1846;refseq.mrnaCoord_3=1550;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I486T;refseq.proteinCoordStr_2=p.I349T;refseq.proteinCoordStr_3=p.I475T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=8667079;refseq.start_2=8667079;refseq.start_3=8667079;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr4 8672094 . A G 212.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=3.45;MQ=96.86;MQ0=0;OQ=3648.57;QD=33.17;RankSumP=1.00000;SB=-1127.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1809A>G;refseq.codingCoordStr_2=c.1398A>G;refseq.codingCoordStr_3=c.1776A>G;refseq.codonCoord_1=603;refseq.codonCoord_2=466;refseq.codonCoord_3=592;refseq.end_1=8672094;refseq.end_2=8672094;refseq.end_3=8672094;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1935;refseq.mrnaCoord_2=2198;refseq.mrnaCoord_3=1902;refseq.name2_1=CPZ;refseq.name2_2=CPZ;refseq.name2_3=CPZ;refseq.name_1=NM_001014447;refseq.name_2=NM_001014448;refseq.name_3=NM_003652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P603P;refseq.proteinCoordStr_2=p.P466P;refseq.proteinCoordStr_3=p.P592P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=206;refseq.spliceDist_2=206;refseq.spliceDist_3=206;refseq.start_1=8672094;refseq.start_2=8672094;refseq.start_3=8672094;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr4 9061262 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=179;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=26.35;MQ0=105;OQ=479.54;QD=2.68;RankSumP=0.604425;SB=-79.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.137C>T;refseq.codonCoord=46;refseq.end=9061262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=137;refseq.name=NM_001040448;refseq.name2=DEFB131;refseq.positionType=CDS;refseq.proteinCoordStr=p.A46V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-77;refseq.start=9061262;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap-filterIngatk GT 0/1 chr4 9061279 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=158;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=24.75;MQ0=85;OQ=135.18;QD=0.86;RankSumP=0.733458;SB=-39.72;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.154G>T;refseq.codonCoord=52;refseq.end=9061279;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_001040448;refseq.name2=DEFB131;refseq.positionType=CDS;refseq.proteinCoordStr=p.D52Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-60;refseq.start=9061279;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr4 9393003 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=14.09;MQ=89.91;MQ0=13;OQ=1401.26;QD=4.73;RankSumP=0.432023;SB=-386.20;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=9393003;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_000798;refseq.name2=DRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A84A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=648;refseq.start=9393003;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr4 9393015 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=317;Dels=0.00;HRun=0;HaplotypeScore=13.69;MQ=86.80;MQ0=18;OQ=1301.80;QD=4.11;RankSumP=0.318568;SB=-390.34;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=9393015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_000798;refseq.name2=DRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L88L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=660;refseq.start=9393015;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr4 9393069 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=277;Dels=0.00;HRun=1;HaplotypeScore=6.46;MQ=79.35;MQ0=21;OQ=634.41;QD=2.29;RankSumP=0.374399;SB=-15.52;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.318C>T;refseq.codonCoord=106;refseq.end=9393069;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_000798;refseq.name2=DRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y106Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=714;refseq.start=9393069;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap-filterIngatk GT 0/1 chr4 9393080 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.312712;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.329G>A;refseq.codonCoord=110;refseq.end=9393080;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_000798;refseq.name2=DRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G110E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=725;refseq.start=9393080;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr4 9393729 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=84.94;MQ0=12;OQ=2830.54;QD=12.75;RankSumP=0.00195324;SB=-1078.89;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.978C>T;refseq.codonCoord=326;refseq.end=9393729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1374;refseq.name=NM_000798;refseq.name2=DRD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P326P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1003;refseq.start=9393729;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 0/1 chr4 9519021 . G A 232.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.25;MQ0=0;OQ=2104.08;QD=15.59;RankSumP=0.274233;SB=-611.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.962C>T;refseq.codingCoordStr_2=c.1049C>T;refseq.codonCoord_1=321;refseq.codonCoord_2=350;refseq.end_1=9519021;refseq.end_2=9519021;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1121;refseq.mrnaCoord_2=1110;refseq.name2_1=SLC2A9;refseq.name2_2=SLC2A9;refseq.name_1=NM_001001290;refseq.name_2=NM_020041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P321L;refseq.proteinCoordStr_2=p.P350L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=9519021;refseq.start_2=9519021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr4 9591428 . A G 318.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=10271.74;QD=42.80;RankSumP=1.00000;SB=-4098.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.480T>C;refseq.codingCoordStr_2=c.567T>C;refseq.codonCoord_1=160;refseq.codonCoord_2=189;refseq.end_1=9591428;refseq.end_2=9591428;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=628;refseq.name2_1=SLC2A9;refseq.name2_2=SLC2A9;refseq.name_1=NM_001001290;refseq.name_2=NM_020041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L160L;refseq.proteinCoordStr_2=p.L189L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=9591428;refseq.start_2=9591428;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr4 9607538 . C T 436.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=6892.34;QD=40.78;RankSumP=1.00000;SB=-2081.74;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.288G>A;refseq.codingCoordStr_2=c.375G>A;refseq.codonCoord_1=96;refseq.codonCoord_2=125;refseq.end_1=9607538;refseq.end_2=9607538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=447;refseq.mrnaCoord_2=436;refseq.name2_1=SLC2A9;refseq.name2_2=SLC2A9;refseq.name_1=NM_001001290;refseq.name_2=NM_020041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T96T;refseq.proteinCoordStr_2=p.T125T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=9607538;refseq.start_2=9607538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr4 9607591 . A G 324.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.91;MQ0=0;OQ=15730.60;QD=41.73;RankSumP=1.00000;SB=-4697.23;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.235T>C;refseq.codingCoordStr_2=c.322T>C;refseq.codonCoord_1=79;refseq.codonCoord_2=108;refseq.end_1=9607591;refseq.end_2=9607591;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=394;refseq.mrnaCoord_2=383;refseq.name2_1=SLC2A9;refseq.name2_2=SLC2A9;refseq.name_1=NM_001001290;refseq.name_2=NM_020041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L79L;refseq.proteinCoordStr_2=p.L108L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=9607591;refseq.start_2=9607591;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr4 9632079 . C T 166.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=98.81;MQ0=0;OQ=3089.77;QD=16.70;RankSumP=0.0229193;SB=-547.46;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.73G>A;refseq.codonCoord_2=25;refseq.end_1=9636615;refseq.end_2=9632079;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=134;refseq.name2_1=SLC2A9;refseq.name2_2=SLC2A9;refseq.name_1=NM_001001290;refseq.name_2=NM_020041;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G25R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=-78;refseq.start_1=9629806;refseq.start_2=9632079;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr4 9636640 . C T 182.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=96.77;MQ0=0;OQ=4050.77;QD=20.36;RankSumP=0.401257;SB=-973.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.49G>A;refseq.codonCoord=17;refseq.end=9636640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_001001290;refseq.name2=SLC2A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A17T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-15;refseq.start=9636640;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 10054232 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2819A>C;refseq.codonCoord=940;refseq.end=10054232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3306;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N940T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=3030;refseq.start=10054232;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr4 10055483 . C T 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=434;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.90;MQ0=0;OQ=18391.40;QD=42.38;RankSumP=1.00000;SB=-8606.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1568G>A;refseq.codonCoord=523;refseq.end=10055483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2055;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S523N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1779;refseq.start=10055483;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr4 10056004 . A G 293.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.92;MQ0=0;OQ=4847.50;QD=17.82;RankSumP=0.293789;SB=-710.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1047T>C;refseq.codonCoord=349;refseq.end=10056004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1534;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D349D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1258;refseq.start=10056004;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr4 10056266 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=774;Dels=0.00;HRun=0;HaplotypeScore=13.89;MQ=98.73;MQ0=0;OQ=18627.33;QD=24.07;RankSumP=0.493543;SB=-7037.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.785G>C;refseq.codonCoord=262;refseq.end=10056266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G262A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=996;refseq.start=10056266;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr4 10056292 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=742;Dels=0.00;HRun=0;HaplotypeScore=15.25;MQ=98.79;MQ0=0;OQ=15426.16;QD=20.79;RankSumP=0.206082;SB=-6073.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.759A>C;refseq.codonCoord=253;refseq.end=10056292;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q253H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=970;refseq.start=10056292;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr4 10056738 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=2;HaplotypeScore=3.56;MQ=98.92;MQ0=0;OQ=7901.50;QD=21.47;RankSumP=0.314403;SB=-2711.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.313T>C;refseq.codonCoord=105;refseq.end=10056738;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_053042;refseq.name2=ZNF518B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S105P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=524;refseq.start=10056738;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr4 13154890 . G T 187.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.10;MQ0=0;OQ=1749.80;QD=33.02;RankSumP=1.00000;SB=-722.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.247C>A;refseq.codonCoord=83;refseq.end=13154890;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_001189;refseq.name2=NKX3-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R83R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-220;refseq.start=13154890;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 15318290 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=660;Dels=0.00;HRun=0;HaplotypeScore=28.41;MQ=98.83;MQ0=0;OQ=14565.34;QD=22.07;RankSumP=0.0765464;SB=-5725.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.374G>A;refseq.codonCoord=125;refseq.end=15318290;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_004334;refseq.name2=BST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R125H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=59;refseq.start=15318290;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr4 15342465 . G C 18.03 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=94;Dels=0.00;HRun=1;HaplotypeScore=9.03;MQ=98.33;MQ0=0;QD=0.19;RankSumP=0.00000;SB=182.65;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.856G>C;refseq.codonCoord=286;refseq.end=15342465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1051;refseq.name=NM_004334;refseq.name2=BST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A286P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=15342465;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr4 15546829 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=4.37;MQ=98.79;MQ0=0;OQ=10083.45;QD=40.82;RankSumP=1.00000;SB=-4563.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=15546829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_005130;refseq.name2=FGFBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K175K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-540;refseq.start=15546829;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr4 15573316 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.535A>C;refseq.codonCoord=179;refseq.end=15573316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_031950;refseq.name2=FGFBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T179P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-158;refseq.start=15573316;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 15573599 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=3;HaplotypeScore=1.26;MQ=98.42;MQ0=0;OQ=4561.50;QD=40.01;RankSumP=1.00000;SB=-1669.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=15573599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_031950;refseq.name2=FGFBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F84F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=359;refseq.start=15573599;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr4 15573671 . A G 290.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.19;MQ0=0;OQ=2057.54;QD=33.73;RankSumP=1.00000;SB=-728.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.180T>C;refseq.codonCoord=60;refseq.end=15573671;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_031950;refseq.name2=FGFBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R60R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=287;refseq.start=15573671;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr4 16206585 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.247A>G;refseq.codingCoordStr_2=c.247A>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=16206585;refseq.end_2=16206585;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=563;refseq.mrnaCoord_2=563;refseq.name2_1=LDB2;refseq.name2_2=LDB2;refseq.name_1=NM_001130834;refseq.name_2=NM_001290;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T83A;refseq.proteinCoordStr_2=p.T83A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=16206585;refseq.start_2=16206585;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr4 17112480 . C T 144.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=7.96;MQ=98.77;MQ0=0;OQ=4233.96;QD=18.25;RankSumP=0.252138;SB=-1448.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.396G>A;refseq.codonCoord=132;refseq.end=17112480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_000320;refseq.name2=QDPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L132L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-41;refseq.start=17112480;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr4 17195801 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=1;HaplotypeScore=4.44;MQ=98.58;MQ0=0;OQ=18330.14;QD=38.51;RankSumP=1.00000;SB=-9062.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.648T>C;refseq.codonCoord=216;refseq.end=17195801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_015907;refseq.name2=LAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A216A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-57;refseq.start=17195801;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 17427983 . T C 441.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=98.92;MQ0=0;OQ=11082.08;QD=38.61;RankSumP=1.00000;SB=-2878.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.777T>C;refseq.codonCoord=259;refseq.end=17427983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_022346;refseq.name2=NCAPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D259D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=17427983;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr4 20161608 . A C 268.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=6.66;MQ=98.83;MQ0=0;OQ=3970.18;QD=17.80;RankSumP=0.337833;SB=-1652.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2550A>C;refseq.codonCoord=850;refseq.end=20161608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2754;refseq.name=NM_004787;refseq.name2=SLIT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A850A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-12;refseq.start=20161608;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr4 20207142 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3327G>T;refseq.codonCoord=1109;refseq.end=20207142;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3531;refseq.name=NM_004787;refseq.name2=SLIT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1109F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=20207142;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr4 20461264 . A G 215.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.77;MQ0=0;OQ=2330.84;QD=13.87;RankSumP=0.311927;SB=-1181.13;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.chr_6=chr4;refseq.codingCoordStr_1=c.213T>C;refseq.codingCoordStr_2=c.102T>C;refseq.codingCoordStr_3=c.228T>C;refseq.codingCoordStr_4=c.126T>C;refseq.codingCoordStr_5=c.102T>C;refseq.codingCoordStr_6=c.225T>C;refseq.codonCoord_1=71;refseq.codonCoord_2=34;refseq.codonCoord_3=76;refseq.codonCoord_4=42;refseq.codonCoord_5=34;refseq.codonCoord_6=75;refseq.end_1=20461264;refseq.end_2=20461264;refseq.end_3=20461264;refseq.end_4=20461264;refseq.end_5=20461264;refseq.end_6=20461264;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=471;refseq.mrnaCoord_2=392;refseq.mrnaCoord_3=228;refseq.mrnaCoord_4=126;refseq.mrnaCoord_5=418;refseq.mrnaCoord_6=225;refseq.name2_1=KCNIP4;refseq.name2_2=KCNIP4;refseq.name2_3=KCNIP4;refseq.name2_4=KCNIP4;refseq.name2_5=KCNIP4;refseq.name2_6=KCNIP4;refseq.name_1=NM_001035003;refseq.name_2=NM_001035004;refseq.name_3=NM_025221;refseq.name_4=NM_147181;refseq.name_5=NM_147182;refseq.name_6=NM_147183;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.N71N;refseq.proteinCoordStr_2=p.N34N;refseq.proteinCoordStr_3=p.N76N;refseq.proteinCoordStr_4=p.N42N;refseq.proteinCoordStr_5=p.N34N;refseq.proteinCoordStr_6=p.N75N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceDist_5=-1;refseq.spliceDist_6=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.spliceInfo_5=splice-donor_-1;refseq.spliceInfo_6=splice-donor_-1;refseq.start_1=20461264;refseq.start_2=20461264;refseq.start_3=20461264;refseq.start_4=20461264;refseq.start_5=20461264;refseq.start_6=20461264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;set=Intersection GT 0/1 chr4 20461342 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.85;MQ0=0;OQ=1418.20;QD=14.18;RankSumP=0.379659;SB=-595.85;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.chr_6=chr4;refseq.codingCoordStr_1=c.135T>C;refseq.codingCoordStr_2=c.24T>C;refseq.codingCoordStr_3=c.150T>C;refseq.codingCoordStr_4=c.48T>C;refseq.codingCoordStr_5=c.24T>C;refseq.codingCoordStr_6=c.147T>C;refseq.codonCoord_1=45;refseq.codonCoord_2=8;refseq.codonCoord_3=50;refseq.codonCoord_4=16;refseq.codonCoord_5=8;refseq.codonCoord_6=49;refseq.end_1=20461342;refseq.end_2=20461342;refseq.end_3=20461342;refseq.end_4=20461342;refseq.end_5=20461342;refseq.end_6=20461342;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=314;refseq.mrnaCoord_3=150;refseq.mrnaCoord_4=48;refseq.mrnaCoord_5=340;refseq.mrnaCoord_6=147;refseq.name2_1=KCNIP4;refseq.name2_2=KCNIP4;refseq.name2_3=KCNIP4;refseq.name2_4=KCNIP4;refseq.name2_5=KCNIP4;refseq.name2_6=KCNIP4;refseq.name_1=NM_001035003;refseq.name_2=NM_001035004;refseq.name_3=NM_025221;refseq.name_4=NM_147181;refseq.name_5=NM_147182;refseq.name_6=NM_147183;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.P45P;refseq.proteinCoordStr_2=p.P8P;refseq.proteinCoordStr_3=p.P50P;refseq.proteinCoordStr_4=p.P16P;refseq.proteinCoordStr_5=p.P8P;refseq.proteinCoordStr_6=p.P49P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.spliceDist_4=48;refseq.spliceDist_5=47;refseq.spliceDist_6=47;refseq.start_1=20461342;refseq.start_2=20461342;refseq.start_3=20461342;refseq.start_4=20461342;refseq.start_5=20461342;refseq.start_6=20461342;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=Intersection GT 0/1 chr4 21999265 . C T 236.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.92;MQ0=0;OQ=2439.11;QD=15.44;RankSumP=0.236797;SB=-1105.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3127G>A;refseq.codonCoord=1043;refseq.end=21999265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3392;refseq.name=NM_145290;refseq.name2=GPR125;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1043M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=404;refseq.start=21999265;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr4 22049012 . A C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=778;Dels=0.00;HRun=0;HaplotypeScore=32.42;MQ=88.43;MQ0=102;OQ=25767.36;QD=33.12;RankSumP=1.00000;SB=-11998.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1050T>G;refseq.codonCoord=350;refseq.end=22049012;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1315;refseq.name=NM_145290;refseq.name2=GPR125;refseq.positionType=CDS;refseq.proteinCoordStr=p.P350P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-36;refseq.start=22049012;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 23424620 . C T 279.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.70;MQ0=0;OQ=18044.00;QD=40.82;RankSumP=1.00000;SB=-6765.31;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1584G>A;refseq.codonCoord=528;refseq.end=23424620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_013261;refseq.name2=PPARGC1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T528T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-210;refseq.start=23424620;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr4 23424760 . C T 267.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=98.93;MQ0=0;OQ=11078.39;QD=42.28;RankSumP=1.00000;SB=-3915.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1444G>A;refseq.codonCoord=482;refseq.end=23424760;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1564;refseq.name=NM_013261;refseq.name2=PPARGC1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G482S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-350;refseq.start=23424760;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 23425022 . T C 303.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=5539.58;QD=38.47;RankSumP=1.00000;SB=-2327.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1182A>G;refseq.codonCoord=394;refseq.end=23425022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_013261;refseq.name2=PPARGC1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T394T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=305;refseq.start=23425022;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr4 24410413 . G A 86.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.36;MQ0=0;OQ=282.11;QD=11.75;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.172G>A;refseq.codonCoord=58;refseq.end=24410413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_003102;refseq.name2=SOD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A58T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=188;refseq.start=24410413;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 1/1 chr4 24445717 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=467;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=98.93;MQ0=0;OQ=9383.55;QD=20.09;RankSumP=0.346978;SB=-3196.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.771G>A;refseq.codingCoordStr_2=c.606G>A;refseq.codonCoord_1=257;refseq.codonCoord_2=202;refseq.end_1=24445717;refseq.end_2=24445717;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=850;refseq.mrnaCoord_2=788;refseq.name2_1=CCDC149;refseq.name2_2=CCDC149;refseq.name_1=NM_001130726;refseq.name_2=NM_173463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q257Q;refseq.proteinCoordStr_2=p.Q202Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=24445717;refseq.start_2=24445717;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr4 24614291 . G A 174.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=14.17;MQ=98.71;MQ0=0;OQ=1804.27;QD=16.71;RankSumP=0.117195;SB=-493.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1518C>T;refseq.codonCoord=506;refseq.end=24614291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1617;refseq.name=NM_018176;refseq.name2=LGI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y506Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=698;refseq.start=24614291;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr4 24863093 . C T 264.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=12307.43;QD=43.80;RankSumP=1.00000;SB=-6025.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=24863093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_018323;refseq.name2=PI4K2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A107A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=53;refseq.start=24863093;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr4 24972999 . T A 299.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=98.05;MQ0=0;OQ=3052.20;QD=15.81;RankSumP=0.395024;SB=-1183.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1187T>A;refseq.codonCoord=396;refseq.end=24972999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1223;refseq.name=NM_024936;refseq.name2=ZCCHC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L396H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-23;refseq.start=24972999;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr4 25017936 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=71;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1240.72;QD=17.47;RankSumP=0.403771;SB=-492.92;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1394G>A;refseq.codonCoord=465;refseq.end=25017936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1523;refseq.name=NM_013367;refseq.name2=ANAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R465Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=20;refseq.start=25017936;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr4 25028381 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=826;Dels=0.00;HRun=0;HaplotypeScore=28.46;MQ=98.94;MQ0=0;OQ=14505.59;QD=17.56;RankSumP=0.254161;SB=-5824.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2121T>C;refseq.codonCoord=707;refseq.end=25028381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2250;refseq.name=NM_013367;refseq.name2=ANAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F707F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=46;refseq.start=25028381;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr4 25287297 . A G 172.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=1096.72;QD=35.38;RankSumP=1.00000;SB=-276.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1901A>G;refseq.codonCoord=634;refseq.end=25287297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1982;refseq.name=NM_006424;refseq.name2=SLC34A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D634G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=443;refseq.start=25287297;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr4 26026234 . T C 246.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=97.58;MQ0=0;OQ=2860.36;QD=34.05;RankSumP=1.00000;SB=-1302.56;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.234T>C;refseq.codingCoordStr_2=c.195T>C;refseq.codingCoordStr_3=c.189T>C;refseq.codingCoordStr_4=c.192T>C;refseq.codonCoord_1=78;refseq.codonCoord_2=65;refseq.codonCoord_3=63;refseq.codonCoord_4=64;refseq.end_1=26026234;refseq.end_2=26026234;refseq.end_3=26026234;refseq.end_4=26026234;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=470;refseq.mrnaCoord_2=398;refseq.mrnaCoord_3=354;refseq.mrnaCoord_4=581;refseq.name2_1=RBPJ;refseq.name2_2=RBPJ;refseq.name2_3=RBPJ;refseq.name2_4=RBPJ;refseq.name_1=NM_005349;refseq.name_2=NM_015874;refseq.name_3=NM_203283;refseq.name_4=NM_203284;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S78S;refseq.proteinCoordStr_2=p.S65S;refseq.proteinCoordStr_3=p.S63S;refseq.proteinCoordStr_4=p.S64S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.start_1=26026234;refseq.start_2=26026234;refseq.start_3=26026234;refseq.start_4=26026234;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/1 chr4 26194979 . C T 186.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.40;MQ0=0;OQ=1246.31;QD=15.58;RankSumP=0.407101;SB=-484.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.66C>T;refseq.codonCoord=22;refseq.end=26194979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_018317;refseq.name2=TBC1D19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S22S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-34;refseq.start=26194979;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr4 26282885 . A G 310.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=443.18;QD=40.29;RankSumP=1.00000;SB=-95.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.681A>G;refseq.codonCoord=227;refseq.end=26282885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=951;refseq.name=NM_018317;refseq.name2=TBC1D19;refseq.positionType=CDS;refseq.proteinCoordStr=p.E227E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=17;refseq.start=26282885;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr4 26613109 . G A 277.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=8908.86;QD=44.10;RankSumP=1.00000;SB=-3184.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.798G>A;refseq.codingCoordStr_2=c.798G>A;refseq.codingCoordStr_3=c.798G>A;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.codonCoord_3=266;refseq.end_1=26613109;refseq.end_2=26613109;refseq.end_3=26613109;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1326;refseq.mrnaCoord_2=1326;refseq.mrnaCoord_3=1326;refseq.name2_1=STIM2;refseq.name2_2=STIM2;refseq.name2_3=STIM2;refseq.name_1=NM_001169117;refseq.name_2=NM_001169118;refseq.name_3=NM_020860;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q266Q;refseq.proteinCoordStr_2=p.Q266Q;refseq.proteinCoordStr_3=p.Q266Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=26613109;refseq.start_2=26613109;refseq.start_3=26613109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr4 26628491 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=170;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=99.01;MQ0=0;OQ=2613.70;QD=15.37;RankSumP=0.287556;SB=-1084.45;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1550G>A;refseq.codingCoordStr_2=c.1574G>A;refseq.codingCoordStr_3=c.1550G>A;refseq.codonCoord_1=517;refseq.codonCoord_2=525;refseq.codonCoord_3=517;refseq.end_1=26628491;refseq.end_2=26628491;refseq.end_3=26628491;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2078;refseq.mrnaCoord_2=2102;refseq.mrnaCoord_3=2078;refseq.name2_1=STIM2;refseq.name2_2=STIM2;refseq.name2_3=STIM2;refseq.name_1=NM_001169117;refseq.name_2=NM_001169118;refseq.name_3=NM_020860;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R517H;refseq.proteinCoordStr_2=p.R525H;refseq.proteinCoordStr_3=p.R517H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.spliceDist_3=61;refseq.start_1=26628491;refseq.start_2=26628491;refseq.start_3=26628491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr4 35758273 . C T 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.59;MQ0=0;OQ=9044.44;QD=42.66;RankSumP=1.00000;SB=-3900.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4568G>A;refseq.codonCoord=1523;refseq.end=35758273;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4906;refseq.name=NM_015230;refseq.name2=ARAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1523Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=24;refseq.start=35758273;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr4 35828979 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=1;HaplotypeScore=19.60;MQ=98.73;MQ0=0;OQ=7622.40;QD=18.91;RankSumP=0.133657;SB=-2242.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2835C>A;refseq.codonCoord=945;refseq.end=35828979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3173;refseq.name=NM_015230;refseq.name2=ARAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T945T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-63;refseq.start=35828979;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr4 35839523 . G A 269.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=4.41;MQ=99.00;MQ0=0;OQ=5004.63;QD=18.89;RankSumP=0.0865709;SB=-2022.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2218C>T;refseq.codonCoord=740;refseq.end=35839523;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2556;refseq.name=NM_015230;refseq.name2=ARAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L740L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-42;refseq.start=35839523;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr4 35907097 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=2.49440e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.407G>A;refseq.codonCoord=136;refseq.end=35907097;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_015230;refseq.name2=ARAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R136K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-499;refseq.start=35907097;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 37268523 . G A 449.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.80;MQ0=0;OQ=6312.81;QD=41.26;RankSumP=1.00000;SB=-2635.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.451G>A;refseq.codingCoordStr_2=c.451G>A;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=37268523;refseq.end_2=37268523;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=634;refseq.mrnaCoord_2=629;refseq.name2_1=C4orf19;refseq.name2_2=C4orf19;refseq.name_1=NM_001104629;refseq.name_2=NM_018302;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A151T;refseq.proteinCoordStr_2=p.A151T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=419;refseq.spliceDist_2=419;refseq.start_1=37268523;refseq.start_2=37268523;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr4 37512697 . T C 236.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=98.71;MQ0=0;OQ=4530.78;QD=21.27;RankSumP=0.467213;SB=-1690.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.312T>C;refseq.codonCoord=104;refseq.end=37512697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_018290;refseq.name2=PGM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S104S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-45;refseq.start=37512697;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr4 37533737 . G C 365.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.65;MQ0=0;OQ=4757.13;QD=20.24;RankSumP=0.0348551;SB=-1968.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1716G>C;refseq.codonCoord=572;refseq.end=37533737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1789;refseq.name=NM_018290;refseq.name2=PGM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L572L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-21;refseq.start=37533737;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr4 37539588 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1799T>C;refseq.codonCoord=600;refseq.end=37539588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1872;refseq.name=NM_018290;refseq.name2=PGM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F600S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=63;refseq.start=37539588;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr4 37692790 . T G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=62.67;QD=6.96;RankSumP=0.690476;SB=-45.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.683T>G;refseq.codonCoord=228;refseq.end=37692790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1026;refseq.name=NM_015173;refseq.name2=TBC1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V228G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-200;refseq.start=37692790;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr4 37699697 . C G 139.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1312.86;QD=17.27;RankSumP=0.433550;SB=-548.79;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1173C>G;refseq.codonCoord=391;refseq.end=37699697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1516;refseq.name=NM_015173;refseq.name2=TBC1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P391P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-38;refseq.start=37699697;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr4 38451180 . A G 238.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=15.80;MQ=98.97;MQ0=0;OQ=6120.45;QD=21.40;RankSumP=0.433802;SB=-1920.85;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2427T>C;refseq.codingCoordStr_2=c.2427T>C;refseq.codonCoord_1=809;refseq.codonCoord_2=809;refseq.end_1=38451180;refseq.end_2=38451180;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2537;refseq.mrnaCoord_2=3043;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D809D;refseq.proteinCoordStr_2=p.D809D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-534;refseq.spliceDist_2=-534;refseq.start_1=38451180;refseq.start_2=38451180;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 38451284 . T C 332.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=99.00;MQ0=0;OQ=5926.25;QD=21.87;RankSumP=0.292672;SB=-2330.58;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2323A>G;refseq.codingCoordStr_2=c.2323A>G;refseq.codonCoord_1=775;refseq.codonCoord_2=775;refseq.end_1=38451284;refseq.end_2=38451284;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2433;refseq.mrnaCoord_2=2939;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I775V;refseq.proteinCoordStr_2=p.I775V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-638;refseq.spliceDist_2=-638;refseq.start_1=38451284;refseq.start_2=38451284;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr4 38451435 . A G 189.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=7957.50;QD=23.54;RankSumP=0.427148;SB=-2527.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2172T>C;refseq.codingCoordStr_2=c.2172T>C;refseq.codonCoord_1=724;refseq.codonCoord_2=724;refseq.end_1=38451435;refseq.end_2=38451435;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2282;refseq.mrnaCoord_2=2788;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H724H;refseq.proteinCoordStr_2=p.H724H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-789;refseq.spliceDist_2=-789;refseq.start_1=38451435;refseq.start_2=38451435;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr4 38452317 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=257;Dels=0.00;HRun=2;HaplotypeScore=1.89;MQ=98.83;MQ0=0;OQ=4816.04;QD=18.74;RankSumP=1.90058e-05;SB=-1717.24;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1290C>A;refseq.codingCoordStr_2=c.1290C>A;refseq.codonCoord_1=430;refseq.codonCoord_2=430;refseq.end_1=38452317;refseq.end_2=38452317;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1400;refseq.mrnaCoord_2=1906;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y430*;refseq.proteinCoordStr_2=p.Y430*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=1352;refseq.spliceDist_2=1352;refseq.start_1=38452317;refseq.start_2=38452317;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=filterInsoap-gatk GT 0/1 chr4 38452502 . T G 323.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=8561.56;QD=41.56;RankSumP=1.00000;SB=-4084.58;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1105A>C;refseq.codingCoordStr_2=c.1105A>C;refseq.codonCoord_1=369;refseq.codonCoord_2=369;refseq.end_1=38452502;refseq.end_2=38452502;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1215;refseq.mrnaCoord_2=1721;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I369L;refseq.proteinCoordStr_2=p.I369L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=1167;refseq.spliceDist_2=1167;refseq.start_1=38452502;refseq.start_2=38452502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr4 38452575 . C A 296.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.88;MQ0=0;OQ=4074.29;QD=17.56;RankSumP=0.267093;SB=-1357.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1032G>T;refseq.codingCoordStr_2=c.1032G>T;refseq.codonCoord_1=344;refseq.codonCoord_2=344;refseq.end_1=38452575;refseq.end_2=38452575;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1142;refseq.mrnaCoord_2=1648;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P344P;refseq.proteinCoordStr_2=p.P344P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=1094;refseq.spliceDist_2=1094;refseq.start_1=38452575;refseq.start_2=38452575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr4 38452698 . T C 363.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=99.00;MQ0=0;OQ=4055.99;QD=19.88;RankSumP=0.491743;SB=-1695.27;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.909A>G;refseq.codingCoordStr_2=c.909A>G;refseq.codonCoord_1=303;refseq.codonCoord_2=303;refseq.end_1=38452698;refseq.end_2=38452698;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1019;refseq.mrnaCoord_2=1525;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K303K;refseq.proteinCoordStr_2=p.K303K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=971;refseq.spliceDist_2=971;refseq.start_1=38452698;refseq.start_2=38452698;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr4 38452886 . T G 442.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.48;MQ0=0;OQ=5194.30;QD=41.22;RankSumP=1.00000;SB=-2587.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.721A>C;refseq.codingCoordStr_2=c.721A>C;refseq.codonCoord_1=241;refseq.codonCoord_2=241;refseq.end_1=38452886;refseq.end_2=38452886;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=1337;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N241H;refseq.proteinCoordStr_2=p.N241H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=783;refseq.spliceDist_2=783;refseq.start_1=38452886;refseq.start_2=38452886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr4 38453468 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.139A>C;refseq.codingCoordStr_2=c.139A>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=38453468;refseq.end_2=38453468;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=249;refseq.mrnaCoord_2=755;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T47P;refseq.proteinCoordStr_2=p.T47P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=201;refseq.spliceDist_2=201;refseq.start_1=38453468;refseq.start_2=38453468;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr4 38453568 . A T 241.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.28;MQ=98.91;MQ0=0;OQ=3014.01;QD=14.92;RankSumP=0.425766;SB=-1365.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.39T>A;refseq.codingCoordStr_2=c.39T>A;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=38453568;refseq.end_2=38453568;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=149;refseq.mrnaCoord_2=655;refseq.name2_1=TLR10;refseq.name2_2=TLR10;refseq.name_1=NM_001017388;refseq.name_2=NM_030956;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I13I;refseq.proteinCoordStr_2=p.I13I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=38453568;refseq.start_2=38453568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr4 38475043 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=24.07;MQ=40.02;MQ0=131;OQ=1092.67;QD=2.27;RankSumP=0.246037;SB=-7.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1805G>T;refseq.codonCoord=602;refseq.end=38475043;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2079;refseq.name=NM_003263;refseq.name2=TLR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S602I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-773;refseq.start=38475043;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr4 38475330 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=600;Dels=0.00;HRun=0;HaplotypeScore=33.40;MQ=12.14;MQ0=549;OQ=563.12;QD=0.94;RankSumP=0.571429;SB=-45.53;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1518G>A;refseq.codonCoord=506;refseq.end=38475330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1792;refseq.name=NM_003263;refseq.name2=TLR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S506S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1060;refseq.start=38475330;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr4 38476105 . T C 260.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=98.91;MQ0=0;OQ=1766.49;QD=17.32;RankSumP=0.107990;SB=-807.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.743A>G;refseq.codonCoord=248;refseq.end=38476105;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_003263;refseq.name2=TLR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N248S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=810;refseq.start=38476105;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr4 38476609 . C G 213.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.55;MQ0=0;OQ=3103.63;QD=20.02;RankSumP=0.484219;SB=-568.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.239G>C;refseq.codonCoord=80;refseq.end=38476609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_003263;refseq.name2=TLR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R80T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=306;refseq.start=38476609;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr4 38505558 . A C 208.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=10.77;MQ=88.16;MQ0=0;OQ=6105.94;QD=16.46;RankSumP=0.142971;SB=-2389.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1932T>G;refseq.codonCoord=644;refseq.end=38505558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2052;refseq.name=NM_006068;refseq.name2=TLR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A644A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1996;refseq.start=38505558;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr4 38506227 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=6.15;MQ=98.64;MQ0=0;OQ=9727.78;QD=22.31;RankSumP=0.492518;SB=-4139.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1263A>G;refseq.codonCoord=421;refseq.end=38506227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_006068;refseq.name2=TLR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K421K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1327;refseq.start=38506227;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr4 38506407 . G C 129.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.85;MQ0=0;OQ=3821.27;QD=24.81;RankSumP=0.266972;SB=-1122.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1083C>G;refseq.codonCoord=361;refseq.end=38506407;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_006068;refseq.name2=TLR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T361T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1147;refseq.start=38506407;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 38506745 . A G 194.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=7.73;MQ=98.79;MQ0=0;OQ=5744.79;QD=41.93;RankSumP=1.00000;SB=-2061.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.745T>C;refseq.codonCoord=249;refseq.end=38506745;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=865;refseq.name=NM_006068;refseq.name2=TLR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S249P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=809;refseq.start=38506745;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr4 38556344 . G A 335.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=9.37;MQ=98.77;MQ0=0;OQ=4732.56;QD=17.46;RankSumP=0.418712;SB=-1423.71;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.250G>A;refseq.codonCoord_2=84;refseq.end_1=38569748;refseq.end_2=38556344;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=509;refseq.name2_1=FAM114A1;refseq.name2_2=FAM114A1;refseq.name_1=NR_033290;refseq.name_2=NM_138389;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G84R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=-99;refseq.start_1=38545861;refseq.start_2=38556344;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr4 38556441 . T C 216.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=2.04;MQ=98.82;MQ0=0;OQ=4355.80;QD=17.78;RankSumP=0.412238;SB=-988.12;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.347T>C;refseq.codonCoord_2=116;refseq.end_1=38569748;refseq.end_2=38556441;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=606;refseq.name2_1=FAM114A1;refseq.name2_2=FAM114A1;refseq.name_1=NR_033290;refseq.name_2=NM_138389;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L116P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=38545861;refseq.start_2=38556441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr4 38613767 . T C 327.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=98.15;MQ0=0;OQ=9548.57;QD=40.46;RankSumP=1.00000;SB=-4325.28;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1497T>C;refseq.codonCoord_2=499;refseq.end_1=38613767;refseq.end_2=38613767;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1251;refseq.mrnaCoord_2=1756;refseq.name2_1=FAM114A1;refseq.name2_2=FAM114A1;refseq.name_1=NR_033290;refseq.name_2=NM_138389;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S499S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=38613767;refseq.start_2=38613767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr4 38671769 . T C 237.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=1.68;MQ=98.83;MQ0=0;OQ=7601.12;QD=40.43;RankSumP=1.00000;SB=-1707.54;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=38671769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_024943;refseq.name2=TMEM156;refseq.positionType=CDS;refseq.proteinCoordStr=p.L201L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-17;refseq.start=38671769;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 38676700 . A G 110.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.73;MQ0=0;OQ=1585.03;QD=18.65;RankSumP=0.459341;SB=-451.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.313T>C;refseq.codonCoord=105;refseq.end=38676700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_024943;refseq.name2=TMEM156;refseq.positionType=CDS;refseq.proteinCoordStr=p.S105P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-46;refseq.start=38676700;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr4 38740557 . A C 275.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=5.84;MQ=98.93;MQ0=0;OQ=6885.96;QD=21.12;RankSumP=0.0972555;SB=-937.66;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_3=c.28A>C;refseq.codingCoordStr_4=c.28A>C;refseq.codonCoord_3=10;refseq.codonCoord_4=10;refseq.end_1=38740563;refseq.end_2=38753969;refseq.end_3=38740557;refseq.end_4=38740557;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=311;refseq.mrnaCoord_4=311;refseq.name2_1=KLHL5;refseq.name2_2=KLHL5;refseq.name2_3=KLHL5;refseq.name2_4=KLHL5;refseq.name_1=NM_001007075;refseq.name_2=NM_001171654;refseq.name_3=NM_015990;refseq.name_4=NM_199039;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.I10L;refseq.proteinCoordStr_4=p.I10L;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_3=311;refseq.spliceDist_4=311;refseq.start_1=38723122;refseq.start_2=38723122;refseq.start_3=38740557;refseq.start_4=38740557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;set=Intersection GT 0/1 chr4 38785603 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.1545T>G;refseq.codingCoordStr_2=c.1122T>G;refseq.codingCoordStr_3=c.1683T>G;refseq.codingCoordStr_4=c.1500T>G;refseq.codonCoord_1=515;refseq.codonCoord_2=374;refseq.codonCoord_3=561;refseq.codonCoord_4=500;refseq.end_1=38785603;refseq.end_2=38785603;refseq.end_3=38785603;refseq.end_4=38785603;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1905;refseq.mrnaCoord_2=1428;refseq.mrnaCoord_3=1966;refseq.mrnaCoord_4=1783;refseq.name2_1=KLHL5;refseq.name2_2=KLHL5;refseq.name2_3=KLHL5;refseq.name2_4=KLHL5;refseq.name_1=NM_001007075;refseq.name_2=NM_001171654;refseq.name_3=NM_015990;refseq.name_4=NM_199039;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G515G;refseq.proteinCoordStr_2=p.G374G;refseq.proteinCoordStr_3=p.G561G;refseq.proteinCoordStr_4=p.G500G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.start_1=38785603;refseq.start_2=38785603;refseq.start_3=38785603;refseq.start_4=38785603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr4 38793306 . T C 322.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.74;MQ0=0;OQ=6105.44;QD=37.92;RankSumP=1.00000;SB=-2308.26;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.2034T>C;refseq.codingCoordStr_2=c.1611T>C;refseq.codingCoordStr_3=c.2172T>C;refseq.codingCoordStr_4=c.1989T>C;refseq.codonCoord_1=678;refseq.codonCoord_2=537;refseq.codonCoord_3=724;refseq.codonCoord_4=663;refseq.end_1=38793306;refseq.end_2=38793306;refseq.end_3=38793306;refseq.end_4=38793306;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2394;refseq.mrnaCoord_2=1917;refseq.mrnaCoord_3=2455;refseq.mrnaCoord_4=2272;refseq.name2_1=KLHL5;refseq.name2_2=KLHL5;refseq.name2_3=KLHL5;refseq.name2_4=KLHL5;refseq.name_1=NM_001007075;refseq.name_2=NM_001171654;refseq.name_3=NM_015990;refseq.name_4=NM_199039;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T678T;refseq.proteinCoordStr_2=p.T537T;refseq.proteinCoordStr_3=p.T724T;refseq.proteinCoordStr_4=p.T663T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=38793306;refseq.start_2=38793306;refseq.start_3=38793306;refseq.start_4=38793306;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr4 38978424 . T C 412.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.79;MQ0=0;OQ=5873.12;QD=37.17;RankSumP=1.00000;SB=-1475.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2541A>G;refseq.codonCoord=847;refseq.end=38978424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2675;refseq.name=NM_002913;refseq.name2=RFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P847P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=38978424;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 39124937 . C G 225.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.60;MQ0=0;OQ=2401.77;QD=33.36;RankSumP=1.00000;SB=-902.29;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2196C>G;refseq.codonCoord=732;refseq.end=39124937;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2293;refseq.name=NM_175737;refseq.name2=KLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P732P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-554;refseq.start=39124937;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 39125254 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2513G>C;refseq.codonCoord=838;refseq.end=39125254;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2610;refseq.name=NM_175737;refseq.name2=KLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G838A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-237;refseq.start=39125254;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr4 39134446 . A G 285.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=93.33;MQ0=5;OQ=7299.49;QD=38.42;RankSumP=1.00000;SB=-3293.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.366T>C;refseq.codingCoordStr_2=c.366T>C;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=39134446;refseq.end_2=39134446;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=514;refseq.name2_1=RPL9;refseq.name2_2=RPL9;refseq.name_1=NM_000661;refseq.name_2=NM_001024921;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y122Y;refseq.proteinCoordStr_2=p.Y122Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=39134446;refseq.start_2=39134446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr4 39141606 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.379A>C;refseq.codingCoordStr_2=c.379A>C;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=39141606;refseq.end_2=39141606;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=452;refseq.mrnaCoord_2=452;refseq.name2_1=LIAS;refseq.name2_2=LIAS;refseq.name_1=NM_006859;refseq.name_2=NM_194451;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T127P;refseq.proteinCoordStr_2=p.T127P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=39141606;refseq.start_2=39141606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr4 39797957 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=1640.25;QD=15.33;RankSumP=0.391601;SB=-510.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1831G>A;refseq.codonCoord=611;refseq.end=39797957;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2169;refseq.name=NM_018177;refseq.name2=N4BP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D611N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=11;refseq.start=39797957;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr4 40032280 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.84;MQ0=0;OQ=2121.97;QD=12.13;RankSumP=0.428396;SB=-1036.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.39C>T;refseq.codonCoord=13;refseq.end=40032280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=55;refseq.name=NM_017581;refseq.name2=CHRNA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I13I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-26;refseq.start=40032280;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr4 40032665 . T C 248.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.92;MQ0=0;OQ=7153.73;QD=20.80;RankSumP=0.397704;SB=-1529.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.129T>C;refseq.codonCoord=43;refseq.end=40032665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_017581;refseq.name2=CHRNA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S43S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=65;refseq.start=40032665;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr4 40051179 . A G 112.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=13.37;MQ=98.74;MQ0=0;OQ=5341.70;QD=22.93;RankSumP=0.0607163;SB=-758.75;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1325A>G;refseq.codonCoord=442;refseq.end=40051179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_017581;refseq.name2=CHRNA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N442S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=427;refseq.start=40051179;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr4 40122747 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=279;Dels=0.00;HRun=2;HaplotypeScore=29.70;MQ=97.60;MQ0=0;OQ=4681.52;QD=16.78;RankSumP=0.274077;SB=-1659.05;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1713C>G;refseq.codingCoordStr_2=c.1506C>G;refseq.codonCoord_1=571;refseq.codonCoord_2=502;refseq.end_1=40122747;refseq.end_2=40122747;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2423;refseq.mrnaCoord_2=1767;refseq.name2_1=RBM47;refseq.name2_2=RBM47;refseq.name_1=NM_001098634;refseq.name_2=NM_019027;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G571G;refseq.proteinCoordStr_2=p.G502G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=171;refseq.spliceDist_2=171;refseq.start_1=40122747;refseq.start_2=40122747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr4 40122767 . T C 198.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=17.30;MQ=96.98;MQ0=0;OQ=5286.58;QD=23.19;RankSumP=1.00000;SB=-2132.84;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1693A>G;refseq.codingCoordStr_2=c.1486A>G;refseq.codonCoord_1=565;refseq.codonCoord_2=496;refseq.end_1=40122767;refseq.end_2=40122767;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2403;refseq.mrnaCoord_2=1747;refseq.name2_1=RBM47;refseq.name2_2=RBM47;refseq.name_1=NM_001098634;refseq.name_2=NM_019027;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M565V;refseq.proteinCoordStr_2=p.M496V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.start_1=40122767;refseq.start_2=40122767;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr4 40133333 . A G 360.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=3.35;MQ=98.65;MQ0=0;OQ=6677.81;QD=39.99;RankSumP=1.00000;SB=-3092.92;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1212T>C;refseq.codonCoord_2=404;refseq.end_1=40134534;refseq.end_2=40133333;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1922;refseq.name2_1=RBM47;refseq.name2_2=RBM47;refseq.name_1=NM_019027;refseq.name_2=NM_001098634;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G404G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=89;refseq.start_1=40129647;refseq.start_2=40133333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr4 40134972 . T C 222 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=18.84;MQ=98.62;MQ0=0;OQ=9785.01;QD=19.11;RankSumP=0.00347086;SB=-2969.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.696A>G;refseq.codingCoordStr_2=c.696A>G;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.end_1=40134972;refseq.end_2=40134972;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=957;refseq.name2_1=RBM47;refseq.name2_2=RBM47;refseq.name_1=NM_001098634;refseq.name_2=NM_019027;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E232E;refseq.proteinCoordStr_2=p.E232E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-428;refseq.spliceDist_2=-428;refseq.start_1=40134972;refseq.start_2=40134972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=filterInsoap-gatk GT 1/0 chr4 40135611 . G C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=99.00;MQ0=0;OQ=924.29;QD=30.81;RankSumP=1.00000;SB=-136.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.57C>G;refseq.codingCoordStr_2=c.57C>G;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=40135611;refseq.end_2=40135611;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=767;refseq.mrnaCoord_2=318;refseq.name2_1=RBM47;refseq.name2_2=RBM47;refseq.name_1=NM_001098634;refseq.name_2=NM_019027;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S19S;refseq.proteinCoordStr_2=p.S19S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=40135611;refseq.start_2=40135611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr4 40472903 . C T 208.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=98.46;MQ0=0;OQ=8217.04;QD=41.71;RankSumP=1.00000;SB=-4032.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.906C>T;refseq.codonCoord=302;refseq.end=40472903;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_024677;refseq.name2=NSUN7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G302G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=81;refseq.start=40472903;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr4 40472919 . T G 357.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=4.08;MQ=98.41;MQ0=0;OQ=7473.34;QD=41.29;RankSumP=1.00000;SB=-3713.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.922T>G;refseq.codonCoord=308;refseq.end=40472919;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1417;refseq.name=NM_024677;refseq.name2=NSUN7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S308A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=97;refseq.start=40472919;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 40710580 . G A 229.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=98.74;MQ0=0;OQ=2250.25;QD=17.86;RankSumP=0.111715;SB=-1070.62;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.612C>T;refseq.codingCoordStr_2=c.612C>T;refseq.codingCoordStr_3=c.612C>T;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.codonCoord_3=204;refseq.end_1=40710580;refseq.end_2=40710580;refseq.end_3=40710580;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1242;refseq.mrnaCoord_2=1242;refseq.mrnaCoord_3=1242;refseq.name2_1=APBB2;refseq.name2_2=APBB2;refseq.name2_3=APBB2;refseq.name_1=NM_001166050;refseq.name_2=NM_004307;refseq.name_3=NM_173075;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G204G;refseq.proteinCoordStr_2=p.G204G;refseq.proteinCoordStr_3=p.G204G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-224;refseq.spliceDist_2=-224;refseq.spliceDist_3=-224;refseq.start_1=40710580;refseq.start_2=40710580;refseq.start_3=40710580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr4 40710624 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.568T>C;refseq.codingCoordStr_2=c.568T>C;refseq.codingCoordStr_3=c.568T>C;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.codonCoord_3=190;refseq.end_1=40710624;refseq.end_2=40710624;refseq.end_3=40710624;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1198;refseq.mrnaCoord_2=1198;refseq.mrnaCoord_3=1198;refseq.name2_1=APBB2;refseq.name2_2=APBB2;refseq.name2_3=APBB2;refseq.name_1=NM_001166050;refseq.name_2=NM_004307;refseq.name_3=NM_173075;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S190P;refseq.proteinCoordStr_2=p.S190P;refseq.proteinCoordStr_3=p.S190P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-268;refseq.spliceDist_2=-268;refseq.spliceDist_3=-268;refseq.start_1=40710624;refseq.start_2=40710624;refseq.start_3=40710624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr4 40710656 . C T 271.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=98.78;MQ0=0;OQ=3163.95;QD=17.98;RankSumP=0.0688375;SB=-1353.90;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.536G>A;refseq.codingCoordStr_2=c.536G>A;refseq.codingCoordStr_3=c.536G>A;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=40710656;refseq.end_2=40710656;refseq.end_3=40710656;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1166;refseq.mrnaCoord_2=1166;refseq.mrnaCoord_3=1166;refseq.name2_1=APBB2;refseq.name2_2=APBB2;refseq.name2_3=APBB2;refseq.name_1=NM_001166050;refseq.name_2=NM_004307;refseq.name_3=NM_173075;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R179Q;refseq.proteinCoordStr_2=p.R179Q;refseq.proteinCoordStr_3=p.R179Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-300;refseq.spliceDist_2=-300;refseq.spliceDist_3=-300;refseq.start_1=40710656;refseq.start_2=40710656;refseq.start_3=40710656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr4 41302694 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.402A>G;refseq.codingCoordStr_2=c.402A>G;refseq.codingCoordStr_3=c.402A>G;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.codonCoord_3=134;refseq.end_1=41302694;refseq.end_2=41302694;refseq.end_3=41302694;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=456;refseq.mrnaCoord_2=456;refseq.mrnaCoord_3=456;refseq.name2_1=LIMCH1;refseq.name2_2=LIMCH1;refseq.name2_3=LIMCH1;refseq.name_1=NM_001112717;refseq.name_2=NM_001112718;refseq.name_3=NM_014988;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G134G;refseq.proteinCoordStr_2=p.G134G;refseq.proteinCoordStr_3=p.G134G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=41302694;refseq.start_2=41302694;refseq.start_3=41302694;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr4 41310290 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.537C>A;refseq.codingCoordStr_2=c.537C>A;refseq.codingCoordStr_3=c.75C>A;refseq.codingCoordStr_4=c.75C>A;refseq.codingCoordStr_5=c.537C>A;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=25;refseq.codonCoord_4=25;refseq.codonCoord_5=179;refseq.end_1=41310290;refseq.end_2=41310290;refseq.end_3=41310290;refseq.end_4=41310290;refseq.end_5=41310290;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.functionalClass_5=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=591;refseq.mrnaCoord_2=591;refseq.mrnaCoord_3=248;refseq.mrnaCoord_4=248;refseq.mrnaCoord_5=591;refseq.name2_1=LIMCH1;refseq.name2_2=LIMCH1;refseq.name2_3=LIMCH1;refseq.name2_4=LIMCH1;refseq.name2_5=LIMCH1;refseq.name_1=NM_001112717;refseq.name_2=NM_001112718;refseq.name_3=NM_001112719;refseq.name_4=NM_001112720;refseq.name_5=NM_014988;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Y179*;refseq.proteinCoordStr_2=p.Y179*;refseq.proteinCoordStr_3=p.Y25*;refseq.proteinCoordStr_4=p.Y25*;refseq.proteinCoordStr_5=p.Y179*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.spliceDist_5=51;refseq.start_1=41310290;refseq.start_2=41310290;refseq.start_3=41310290;refseq.start_4=41310290;refseq.start_5=41310290;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantAA_5=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;refseq.variantCodon_5=TAA;set=FilteredInAll GT 1/0 chr4 41368361 . T C 293.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.94;MQ0=0;OQ=5440.49;QD=17.66;RankSumP=0.307544;SB=-2146.54;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.2276T>C;refseq.codingCoordStr_2=c.2276T>C;refseq.codingCoordStr_3=c.1814T>C;refseq.codingCoordStr_4=c.1778T>C;refseq.codingCoordStr_5=c.2276T>C;refseq.codonCoord_1=759;refseq.codonCoord_2=759;refseq.codonCoord_3=605;refseq.codonCoord_4=593;refseq.codonCoord_5=759;refseq.end_1=41368361;refseq.end_2=41368361;refseq.end_3=41368361;refseq.end_4=41368361;refseq.end_5=41368361;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2330;refseq.mrnaCoord_2=2330;refseq.mrnaCoord_3=1987;refseq.mrnaCoord_4=1951;refseq.mrnaCoord_5=2330;refseq.name2_1=LIMCH1;refseq.name2_2=LIMCH1;refseq.name2_3=LIMCH1;refseq.name2_4=LIMCH1;refseq.name2_5=LIMCH1;refseq.name_1=NM_001112717;refseq.name_2=NM_001112718;refseq.name_3=NM_001112719;refseq.name_4=NM_001112720;refseq.name_5=NM_014988;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M759T;refseq.proteinCoordStr_2=p.M759T;refseq.proteinCoordStr_3=p.M605T;refseq.proteinCoordStr_4=p.M593T;refseq.proteinCoordStr_5=p.M759T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceDist_5=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.spliceInfo_5=splice-donor_-8;refseq.start_1=41368361;refseq.start_2=41368361;refseq.start_3=41368361;refseq.start_4=41368361;refseq.start_5=41368361;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/0 chr4 41678875 . C T 298.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.43;MQ0=0;OQ=13524.25;QD=40.61;RankSumP=1.00000;SB=-6333.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=41678875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_001029955;refseq.name2=DCAF4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S103S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=406;refseq.start=41678875;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 41687434 . C G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.28;MQ0=0;OQ=1733.45;QD=31.52;RankSumP=1.00000;SB=-377.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.9C>G;refseq.codonCoord=3;refseq.end=41687434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_006345;refseq.name2=SLC30A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-101;refseq.start=41687434;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 41698428 . A G 387.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.72;MQ0=0;OQ=9896.43;QD=37.49;RankSumP=1.00000;SB=-3500.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.148A>G;refseq.codonCoord=50;refseq.end=41698428;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_006345;refseq.name2=SLC30A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.M50V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=39;refseq.start=41698428;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr4 41714899 . A G 434.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3996.75;QD=39.97;RankSumP=1.00000;SB=-1831.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.289A>G;refseq.codonCoord=97;refseq.end=41714899;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_006345;refseq.name2=SLC30A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T97A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=15;refseq.start=41714899;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr4 41717221 . C A 299.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.97;MQ0=0;OQ=10820.91;QD=39.64;RankSumP=1.00000;SB=-4632.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.366C>A;refseq.codonCoord=122;refseq.end=41717221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_006345;refseq.name2=SLC30A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G122G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=32;refseq.start=41717221;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr4 42098100 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=1.30462e-07;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.592A>C;refseq.codonCoord=198;refseq.end=42098100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_001080505;refseq.name2=SHISA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T198P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=315;refseq.start=42098100;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 44377222 . T C 259.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2795.36;QD=39.93;RankSumP=1.00000;SB=-498.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.173T>C;refseq.codonCoord=58;refseq.end=44377222;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_021927;refseq.name2=GUF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L58P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=44377222;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr4 45780817 . T C 258.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2008.47;QD=37.19;RankSumP=1.00000;SB=-1021.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.264A>G;refseq.codonCoord=88;refseq.end=45780817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_173536;refseq.name2=GABRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T88T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=11;refseq.start=45780817;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr4 45947326 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1112T>G;refseq.codingCoordStr_2=c.1112T>G;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.end_1=45947326;refseq.end_2=45947326;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1427;refseq.mrnaCoord_2=1785;refseq.name2_1=GABRA2;refseq.name2_2=GABRA2;refseq.name_1=NM_000807;refseq.name_2=NM_001114175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V371G;refseq.proteinCoordStr_2=p.V371G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=45947326;refseq.start_2=45947326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr4 46009350 . T C 309.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.94;MQ0=0;OQ=15037.83;QD=40.75;RankSumP=1.00000;SB=-5065.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.396A>G;refseq.codingCoordStr_2=c.396A>G;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.end_1=46009350;refseq.end_2=46009350;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=711;refseq.mrnaCoord_2=1069;refseq.name2_1=GABRA2;refseq.name2_2=GABRA2;refseq.name_1=NM_000807;refseq.name_2=NM_001114175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K132K;refseq.proteinCoordStr_2=p.K132K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=46009350;refseq.start_2=46009350;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr4 46690123 . G T 202.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=930.11;QD=19.38;RankSumP=0.375715;SB=-291.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.76C>A;refseq.codonCoord=26;refseq.end=46690123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=215;refseq.name=NM_000809;refseq.name2=GABRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L26M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-11;refseq.start=46690123;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr4 47016947 . T C 227.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=12920.34;QD=41.54;RankSumP=1.00000;SB=-5763.78;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.508T>C;refseq.codonCoord=170;refseq.end=47016947;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_000812;refseq.name2=GABRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L170L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-37;refseq.start=47016947;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 47016976 . C A 301.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.83;MQ0=0;OQ=4391.63;QD=18.45;RankSumP=0.417143;SB=-862.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.537C>A;refseq.codonCoord=179;refseq.end=47016976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_000812;refseq.name2=GABRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I179I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=47016976;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr4 47209442 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.82;MQ0=0;OQ=1495.29;QD=10.53;RankSumP=0.463659;SB=-448.30;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.128C>T;refseq.codonCoord=43;refseq.end=47209442;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_020453;refseq.name2=ATP10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T43I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-163;refseq.start=47209442;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr4 47232366 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.860T>G;refseq.codonCoord=287;refseq.end=47232366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_020453;refseq.name2=ATP10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.V287G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-24;refseq.start=47232366;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr4 47265633 . G A 254.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=98.94;MQ0=0;OQ=5509.26;QD=20.25;RankSumP=0.351126;SB=-1982.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2876G>A;refseq.codonCoord=959;refseq.end=47265633;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3040;refseq.name=NM_020453;refseq.name2=ATP10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S959N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=23;refseq.start=47265633;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 47273728 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.84;MQ0=0;OQ=6373.69;QD=42.49;RankSumP=1.00000;SB=-964.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3548G>A;refseq.codonCoord=1183;refseq.end=47273728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3712;refseq.name=NM_020453;refseq.name2=ATP10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1183K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-20;refseq.start=47273728;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr4 47288040 . G C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=3726.66;QD=49.69;RankSumP=1.00000;SB=-793.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4166G>C;refseq.codonCoord=1389;refseq.end=47288040;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4330;refseq.name=NM_020453;refseq.name2=ATP10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1389T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=225;refseq.start=47288040;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr4 47361821 . T C 285.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=8.80;MQ=98.60;MQ0=0;OQ=9590.11;QD=38.51;RankSumP=1.00000;SB=-3257.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1574A>G;refseq.codonCoord=525;refseq.end=47361821;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1667;refseq.name=NM_006587;refseq.name2=CORIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H525R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-16;refseq.start=47361821;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr4 47376931 . A G 209.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=4.89;MQ=99.00;MQ0=0;OQ=4218.76;QD=18.26;RankSumP=0.414841;SB=-890.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1116T>C;refseq.codonCoord=372;refseq.end=47376931;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1209;refseq.name=NM_006587;refseq.name2=CORIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S372S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-17;refseq.start=47376931;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr4 47460339 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.431A>C;refseq.codonCoord=144;refseq.end=47460339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_006587;refseq.name2=CORIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H144P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=22;refseq.start=47460339;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 47534686 . C T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=15.55;MQ=97.67;MQ0=0;OQ=4669.29;QD=31.13;RankSumP=1.00000;SB=-1267.21;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.38G>A;refseq.codonCoord=13;refseq.end=47534686;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=131;refseq.name=NM_006587;refseq.name2=CORIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.C13Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-26;refseq.start=47534686;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr4 47582270 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr4;refseq.codingCoordStr=c.1824+2;refseq.end=47582270;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_152995;refseq.name2=NFXL1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=47582270;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr4 47582293 . T C 125.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.81;MQ0=0;OQ=20673.32;QD=39.23;RankSumP=1.00000;SB=-8106.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1803A>G;refseq.codonCoord=601;refseq.end=47582293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1872;refseq.name=NM_152995;refseq.name2=NFXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A601A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=47582293;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr4 47582748 . G A 388.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.80;MQ0=0;OQ=8252.43;QD=43.43;RankSumP=1.00000;SB=-3435.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1569C>T;refseq.codonCoord=523;refseq.end=47582748;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1638;refseq.name=NM_152995;refseq.name2=NFXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T523T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=26;refseq.start=47582748;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr4 47596233 . G A 400.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.94;MQ0=0;OQ=6801.64;QD=42.78;RankSumP=1.00000;SB=-3404.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.737C>T;refseq.codonCoord=246;refseq.end=47596233;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_152995;refseq.name2=NFXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P246L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=90;refseq.start=47596233;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 47633558 . G T 47.23 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=495;Dels=0.00;HRun=1;HaplotypeScore=23.59;MQ=98.53;MQ0=0;QD=0.10;RankSumP=0.00000;SB=513.65;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1710C>A;refseq.codingCoordStr_2=c.1917C>A;refseq.codonCoord_1=570;refseq.codonCoord_2=639;refseq.end_1=47633558;refseq.end_2=47633558;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1976;refseq.mrnaCoord_2=2058;refseq.name2_1=CNGA1;refseq.name2_2=CNGA1;refseq.name_1=NM_000087;refseq.name_2=NM_001142564;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y570*;refseq.proteinCoordStr_2=p.Y639*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-808;refseq.spliceDist_2=-808;refseq.start_1=47633558;refseq.start_2=47633558;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr4 47638905 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.467T>G;refseq.codingCoordStr_2=c.674T>G;refseq.codonCoord_1=156;refseq.codonCoord_2=225;refseq.end_1=47638905;refseq.end_2=47638905;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=815;refseq.name2_1=CNGA1;refseq.name2_2=CNGA1;refseq.name_1=NM_000087;refseq.name_2=NM_001142564;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V156G;refseq.proteinCoordStr_2=p.V225G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=47638905;refseq.start_2=47638905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr4 47764453 . G C 175.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=6.22;MQ=98.74;MQ0=0;OQ=4468.63;QD=17.52;RankSumP=0.345007;SB=-1530.80;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1542C>G;refseq.codonCoord=514;refseq.end=47764453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1628;refseq.name=NM_003328;refseq.name2=TXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A514A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=27;refseq.start=47764453;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr4 47786525 . G A 261.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=10.42;MQ=98.63;MQ0=0;OQ=4073.87;QD=19.22;RankSumP=0.259086;SB=-734.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.783C>T;refseq.codonCoord=261;refseq.end=47786525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_003328;refseq.name2=TXK;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y261Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=47786525;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr4 47867023 . G A 134.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.83;MQ0=0;OQ=883.93;QD=12.81;RankSumP=0.211190;SB=-461.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.453C>T;refseq.codonCoord=151;refseq.end=47867023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_003215;refseq.name2=TEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=47867023;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr4 48187191 . G C 48.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=101.43;QD=33.81;RankSumP=1.00000;SB=-56.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.126G>C;refseq.codonCoord=42;refseq.end=48187191;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_175619;refseq.name2=ZAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q42H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=126;refseq.start=48187191;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/1 chr4 48187526 . A T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=194.36;QD=13.88;RankSumP=0.474858;SB=-45.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.461A>T;refseq.codonCoord=154;refseq.end=48187526;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_175619;refseq.name2=ZAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q154L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=461;refseq.start=48187526;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr4 48219847 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.7349T>G;refseq.codonCoord=2450;refseq.end=48219847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7954;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2450G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=32;refseq.start=48219847;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr4 48224764 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.374560;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.7121G>T;refseq.codonCoord=2374;refseq.end=48224764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7726;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2374V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-20;refseq.start=48224764;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr4 48254274 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=14;DP=526;Dels=0.00;HRun=2;HaplotypeScore=70.70;MQ=97.31;MQ0=0;OQ=2262.41;QD=4.30;RankSumP=0.00000;SB=555.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4078C>A;refseq.codonCoord=1360;refseq.end=48254274;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4683;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1360K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-48;refseq.start=48254274;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 48277666 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=99.00;MQ0=0;OQ=2706.64;QD=17.02;RankSumP=0.410705;SB=-1253.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2232C>T;refseq.codonCoord=744;refseq.end=48277666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2837;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S744S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-28;refseq.start=48277666;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr4 48278269 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2097A>C;refseq.codonCoord=699;refseq.end=48278269;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2702;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R699R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-76;refseq.start=48278269;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr4 48283499 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=2292.23;QD=14.42;RankSumP=0.441210;SB=-387.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1644G>A;refseq.codonCoord=548;refseq.end=48283499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2249;refseq.name=NM_015030;refseq.name2=FRYL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G548G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=48283499;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr4 48683207 . C A 158.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=99.00;MQ0=0;OQ=194.90;QD=16.24;RankSumP=0.208333;SB=-76.86;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4C>A;refseq.codonCoord=2;refseq.end=48683207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_025087;refseq.name2=CWH43;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-40;refseq.start=48683207;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr4 48758629 . C A 285.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.26;MQ0=0;OQ=2642.15;QD=38.29;RankSumP=1.00000;SB=-1188.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2065C>A;refseq.codonCoord=689;refseq.end=48758629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2247;refseq.name=NM_025087;refseq.name2=CWH43;refseq.positionType=CDS;refseq.proteinCoordStr=p.H689N;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=44;refseq.start=48758629;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr4 52435261 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.204A>C;refseq.codingCoordStr_2=c.204A>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=52435261;refseq.end_2=52435261;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=337;refseq.mrnaCoord_2=337;refseq.name2_1=DCUN1D4;refseq.name2_2=DCUN1D4;refseq.name_1=NM_001040402;refseq.name_2=NM_015115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R68S;refseq.proteinCoordStr_2=p.R68S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=52435261;refseq.start_2=52435261;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 0/1 chr4 52633000 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=120;Dels=0.00;HRun=2;HaplotypeScore=16.58;MQ=98.37;MQ0=0;OQ=4642.58;QD=38.69;RankSumP=1.00000;SB=-1522.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.679T>C;refseq.codonCoord=227;refseq.end=52633000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_145263;refseq.name2=SPATA18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S227P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-80;refseq.start=52633000;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr4 53706283 . A G 303.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=98.90;MQ0=0;OQ=8383.84;QD=18.63;RankSumP=0.101653;SB=-2958.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1535T>C;refseq.codonCoord=512;refseq.end=53706283;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1669;refseq.name=NM_152540;refseq.name2=SCFD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L512S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-27;refseq.start=53706283;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr4 53874583 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1112A>C;refseq.codonCoord=371;refseq.end=53874583;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_152540;refseq.name2=SCFD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N371T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-24;refseq.start=53874583;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr4 54059747 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.93;MQ0=0;OQ=2652.46;QD=14.26;RankSumP=0.119912;SB=-837.70;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.796C>T;refseq.codingCoordStr_2=c.508C>T;refseq.codonCoord_1=266;refseq.codonCoord_2=170;refseq.end_1=54059747;refseq.end_2=54059747;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1052;refseq.mrnaCoord_2=812;refseq.name2_1=LNX1;refseq.name2_2=LNX1;refseq.name_1=NM_001126328;refseq.name_2=NM_032622;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L266L;refseq.proteinCoordStr_2=p.L170L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=54059747;refseq.start_2=54059747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr4 54661424 . C T 237.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.47;MQ0=0;OQ=5102.44;QD=35.43;RankSumP=1.00000;SB=-1256.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=54661424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_133267;refseq.name2=GSX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S52S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-419;refseq.start=54661424;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr4 54661676 . T C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.408T>C;refseq.codonCoord=136;refseq.end=54661676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_133267;refseq.name2=GSX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H136H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-167;refseq.start=54661676;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/1 chr4 54824835 . T C 337.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=11.02;MQ=98.59;MQ0=0;OQ=5186.95;QD=20.83;RankSumP=0.369336;SB=-2065.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.612T>C;refseq.codonCoord=204;refseq.end=54824835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N204N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-17;refseq.start=54824835;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 54828483 . T G 128.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.95;MQ0=0;OQ=5036.33;QD=19.52;RankSumP=0.424554;SB=-1843.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.939T>G;refseq.codonCoord=313;refseq.end=54828483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G313G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=54828483;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr4 54834528 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=3;HaplotypeScore=9.11;MQ=98.47;MQ0=0;OQ=4041.35;QD=19.71;RankSumP=0.0621505;SB=-1669.38;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1432T>C;refseq.codonCoord=478;refseq.end=54834528;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1763;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S478P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=68;refseq.start=54834528;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr4 54835812 . A G 162.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=9.00;MQ=98.81;MQ0=0;OQ=4087.22;QD=37.50;RankSumP=1.00000;SB=-1380.36;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1701A>G;refseq.codonCoord=567;refseq.end=54835812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2032;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P567P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=48;refseq.start=54835812;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 54838334 . G A 129.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.64;MQ0=0;OQ=2895.27;QD=14.19;RankSumP=0.451498;SB=-768.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1809G>A;refseq.codonCoord=603;refseq.end=54838334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2140;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A603A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=23;refseq.start=54838334;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr4 54846797 . C T 143.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=9.07;MQ=97.87;MQ0=0;OQ=2978.79;QD=13.92;RankSumP=0.486559;SB=-1418.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2472C>T;refseq.codonCoord=824;refseq.end=54846797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2803;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V824V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=33;refseq.start=54846797;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr4 54856148 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=687;Dels=0.00;HRun=0;HaplotypeScore=14.09;MQ=98.74;MQ0=0;OQ=25410.58;QD=36.99;RankSumP=1.00000;SB=-11986.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3222T>C;refseq.codonCoord=1074;refseq.end=54856148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3553;refseq.name=NM_006206;refseq.name2=PDGFRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1074D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=100;refseq.start=54856148;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr4 55297522 . G C 323.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.87;MQ0=0;OQ=5022.27;QD=19.77;RankSumP=0.160983;SB=-1101.97;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2586G>C;refseq.codingCoordStr_2=c.2574G>C;refseq.codonCoord_1=862;refseq.codonCoord_2=858;refseq.end_1=55297522;refseq.end_2=55297522;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2673;refseq.mrnaCoord_2=2661;refseq.name2_1=KIT;refseq.name2_2=KIT;refseq.name_1=NM_000222;refseq.name_2=NM_001093772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L862L;refseq.proteinCoordStr_2=p.L858L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=55297522;refseq.start_2=55297522;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr4 55957131 . A G 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=5;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=72.00;QD=14.40;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.18A>G;refseq.codonCoord=6;refseq.end=55957131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_018475;refseq.name2=TMEM165;refseq.positionType=CDS;refseq.proteinCoordStr=p.P6P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-190;refseq.start=55957131;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr4 55972726 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.396T>G;refseq.codonCoord=132;refseq.end=55972726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_018475;refseq.name2=TMEM165;refseq.positionType=CDS;refseq.proteinCoordStr=p.G132G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-38;refseq.start=55972726;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 55986378 . A G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.370570;SecondBestBaseQ=34;refseq.chr=chr4;refseq.codingCoordStr=c.*2A>G;refseq.end=55986378;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=1244;refseq.name=NM_018475;refseq.name2=TMEM165;refseq.positionType=utr3;refseq.spliceDist=79;refseq.start=55986378;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr4 56004749 . A G 384.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=3450.75;QD=41.08;RankSumP=1.00000;SB=-855.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1764T>C;refseq.codonCoord=588;refseq.end=56004749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2102;refseq.name=NM_004898;refseq.name2=CLOCK;refseq.positionType=CDS;refseq.proteinCoordStr=p.N588N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=72;refseq.start=56004749;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr4 56170095 . G A 379.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=6769.41;QD=42.84;RankSumP=1.00000;SB=-3348.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.228C>T;refseq.codonCoord=76;refseq.end=56170095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_006681;refseq.name2=NMU;refseq.positionType=CDS;refseq.proteinCoordStr=p.N76N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=56170095;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr4 56451288 . T C 208.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.73;MQ0=0;OQ=4885.52;QD=18.65;RankSumP=0.0789024;SB=-1350.77;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1518T>C;refseq.codingCoordStr_2=c.1518T>C;refseq.codingCoordStr_3=c.1473T>C;refseq.codonCoord_1=506;refseq.codonCoord_2=506;refseq.codonCoord_3=491;refseq.end_1=56451288;refseq.end_2=56451288;refseq.end_3=56451288;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1832;refseq.mrnaCoord_2=1676;refseq.mrnaCoord_3=1631;refseq.name2_1=EXOC1;refseq.name2_2=EXOC1;refseq.name2_3=EXOC1;refseq.name_1=NM_001024924;refseq.name_2=NM_018261;refseq.name_3=NM_178237;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A506A;refseq.proteinCoordStr_2=p.A506A;refseq.proteinCoordStr_3=p.A491A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=56451288;refseq.start_2=56451288;refseq.start_3=56451288;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr4 56875230 . C A 30 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=4.29;RankSumP=0.200000;SB=-10.00;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.805C>A;refseq.codonCoord=269;refseq.end=56875230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_020722;refseq.name2=KIAA1211;refseq.positionType=CDS;refseq.proteinCoordStr=p.L269I;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=268;refseq.start=56875230;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr4 56875373 rs11723379 G C 3.52 PASS AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.19;MQ0=0;OQ=77.39;QD=11.06;SB=-50.44;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.948G>C;refseq.codonCoord=316;refseq.end=56875373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1339;refseq.name=NM_020722;refseq.name2=KIAA1211;refseq.positionType=CDS;refseq.proteinCoordStr=p.A316A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=411;refseq.start=56875373;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:4,3:7:-13.13,-2.11,-18.78:99 chr4 56876389 . G C 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=449.03;QD=44.90;RankSumP=1.00000;SB=-150.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1964G>C;refseq.codonCoord=655;refseq.end=56876389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2355;refseq.name=NM_020722;refseq.name2=KIAA1211;refseq.positionType=CDS;refseq.proteinCoordStr=p.R655P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1224;refseq.start=56876389;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr4 56885113 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=98.72;MQ0=0;OQ=945.82;QD=13.14;RankSumP=0.0335005;SB=-207.82;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3465G>A;refseq.codonCoord=1155;refseq.end=56885113;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3856;refseq.name=NM_020722;refseq.name2=KIAA1211;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1155R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-77;refseq.start=56885113;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr4 56899534 . A C 361.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=10.01;MQ=98.84;MQ0=0;OQ=5786.49;QD=18.55;RankSumP=0.246306;SB=-2123.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3088T>G;refseq.codonCoord=1030;refseq.end=56899534;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3241;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1030D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=181;refseq.start=56899534;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr4 56906109 . T C 341.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.57;MQ0=0;OQ=4704.29;QD=19.44;RankSumP=0.469582;SB=-1885.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2593A>G;refseq.codonCoord=865;refseq.end=56906109;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2746;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T865A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-60;refseq.start=56906109;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr4 56910434 . G A 113.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=17.36;MQ=98.93;MQ0=0;OQ=11070.93;QD=21.62;RankSumP=0.441605;SB=-4628.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2240C>T;refseq.codonCoord=747;refseq.end=56910434;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2393;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A747V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-249;refseq.start=56910434;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr4 56914349 . G A 317.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=2.88;MQ=98.57;MQ0=0;OQ=7083.54;QD=43.46;RankSumP=1.00000;SB=-3367.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1554C>T;refseq.codonCoord=518;refseq.end=56914349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1707;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.D518D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-23;refseq.start=56914349;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 56914370 . C T 278.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.91;MQ0=0;OQ=2630.47;QD=15.47;RankSumP=0.248202;SB=-1238.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1533G>A;refseq.codonCoord=511;refseq.end=56914370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1686;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.P511P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-44;refseq.start=56914370;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr4 56932440 . G A 326.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=99.00;MQ0=0;OQ=6642.64;QD=21.02;RankSumP=0.346304;SB=-2777.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.795C>T;refseq.codonCoord=265;refseq.end=56932440;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S265S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-67;refseq.start=56932440;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr4 56939071 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=333;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=98.90;MQ0=0;OQ=5510.55;QD=16.55;RankSumP=0.480446;SB=-1170.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.668G>T;refseq.codonCoord=223;refseq.end=56939071;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_181806;refseq.name2=AASDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R223L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=56939071;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr4 56968597 . C G 104.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=98.93;MQ0=0;OQ=7360.45;QD=20.68;RankSumP=0.431605;SB=-2739.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.171G>C;refseq.codonCoord=57;refseq.end=56968597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_002703;refseq.name2=PPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-25;refseq.start=56968597;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr4 57028579 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.39;MQ0=0;OQ=327.34;QD=6.68;RankSumP=0.500051;SB=-132.58;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.21G>T;refseq.codonCoord=7;refseq.end=57028579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=61;refseq.name=NM_006947;refseq.name2=SRP72;refseq.positionType=CDS;refseq.proteinCoordStr=p.G7G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=61;refseq.start=57028579;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr4 57491857 . G T 283.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.14;MQ0=0;OQ=6839.43;QD=16.60;RankSumP=0.104559;SB=-2276.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2076G>T;refseq.codonCoord=692;refseq.end=57491857;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2423;refseq.name=NM_005612;refseq.name2=REST;refseq.positionType=CDS;refseq.proteinCoordStr=p.E692D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1094;refseq.start=57491857;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr4 57492010 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=3.53;MQ=63.70;MQ0=26;OQ=844.15;QD=4.80;RankSumP=0.248737;SB=-88.89;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2229G>A;refseq.codonCoord=743;refseq.end=57492010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2576;refseq.name=NM_005612;refseq.name2=REST;refseq.positionType=CDS;refseq.proteinCoordStr=p.E743E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-1088;refseq.start=57492010;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 57492040 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.354210;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2259G>A;refseq.codonCoord=753;refseq.end=57492040;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2606;refseq.name=NM_005612;refseq.name2=REST;refseq.positionType=CDS;refseq.proteinCoordStr=p.M753I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-1058;refseq.start=57492040;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 1/0 chr4 57492065 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=134;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=77.86;MQ0=15;OQ=1703.54;QD=12.71;RankSumP=0.253104;SB=-655.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2284A>C;refseq.codonCoord=762;refseq.end=57492065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2631;refseq.name=NM_005612;refseq.name2=REST;refseq.positionType=CDS;refseq.proteinCoordStr=p.K762Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-1033;refseq.start=57492065;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr4 57538077 . A G 15.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.10;MQ0=0;OQ=147.37;QD=24.56;RankSumP=1.00000;SB=-72.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=57538077;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_032313;refseq.name2=C4orf14;refseq.positionType=CDS;refseq.proteinCoordStr=p.C144C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=507;refseq.start=57538077;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=filterInsoap-gatk GT 1/1 chr4 57581907 . C T 316.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=98.72;MQ0=0;OQ=5613.86;QD=20.72;RankSumP=0.0416117;SB=-1212.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2409C>T;refseq.codonCoord=803;refseq.end=57581907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2452;refseq.name=NM_000938;refseq.name2=POLR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R803R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-12;refseq.start=57581907;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr4 57584434 . C T 289.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.85;MQ0=0;OQ=15117.10;QD=41.53;RankSumP=1.00000;SB=-6368.47;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2697C>T;refseq.codonCoord=899;refseq.end=57584434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2740;refseq.name=NM_000938;refseq.name2=POLR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S899S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-70;refseq.start=57584434;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 65880399 . C T 264.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=98.84;MQ0=0;OQ=2528.13;QD=17.08;RankSumP=0.301302;SB=-562.97;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2895G>A;refseq.codingCoordStr_2=c.2829G>A;refseq.codonCoord_1=965;refseq.codonCoord_2=943;refseq.end_1=65880399;refseq.end_2=65880399;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3088;refseq.mrnaCoord_2=3022;refseq.name2_1=EPHA5;refseq.name2_2=EPHA5;refseq.name_1=NM_004439;refseq.name_2=NM_182472;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G965G;refseq.proteinCoordStr_2=p.G943G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=65880399;refseq.start_2=65880399;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr4 65925358 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=8.28830e-09;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1809T>G;refseq.codonCoord_2=603;refseq.end_1=65952676;refseq.end_2=65925358;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2002;refseq.name2_1=EPHA5;refseq.name2_2=EPHA5;refseq.name_1=NM_182472;refseq.name_2=NM_004439;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C603W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=19;refseq.start_1=65915748;refseq.start_2=65925358;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr4 66150011 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.853C>G;refseq.codingCoordStr_2=c.853C>G;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=66150011;refseq.end_2=66150011;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1046;refseq.mrnaCoord_2=1046;refseq.name2_1=EPHA5;refseq.name2_2=EPHA5;refseq.name_1=NM_004439;refseq.name_2=NM_182472;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P285A;refseq.proteinCoordStr_2=p.P285A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=66150011;refseq.start_2=66150011;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr4 66150013 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=279;Dels=0.00;HRun=2;HaplotypeScore=25.44;MQ=97.44;MQ0=0;OQ=522.49;QD=1.87;RankSumP=0.00000;SB=414.33;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.851T>G;refseq.codingCoordStr_2=c.851T>G;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.end_1=66150013;refseq.end_2=66150013;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1044;refseq.mrnaCoord_2=1044;refseq.name2_1=EPHA5;refseq.name2_2=EPHA5;refseq.name_1=NM_004439;refseq.name_2=NM_182472;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V284G;refseq.proteinCoordStr_2=p.V284G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=66150013;refseq.start_2=66150013;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr4 66825215 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.88;MQ0=0;OQ=323.51;QD=9.80;RankSumP=0.399980;SB=-10.00;SecondBestBaseQ=27;set=Intersection GT 1/0 chr4 68125563 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.27;MQ0=0;OQ=2106.74;QD=13.86;RankSumP=0.219979;SB=-736.49;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.354A>G;refseq.codonCoord=118;refseq.end=68125563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_012108;refseq.name2=STAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T118T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=68125563;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 68129635 . C T 247.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.76;MQ0=0;OQ=7185.42;QD=17.48;RankSumP=0.0827438;SB=-2199.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.381C>T;refseq.codonCoord=127;refseq.end=68129635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_012108;refseq.name2=STAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N127N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=18;refseq.start=68129635;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr4 68244960 . A G 179.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.68;MQ0=0;OQ=1859.44;QD=13.67;RankSumP=0.484417;SB=-636.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.132T>C;refseq.codonCoord=44;refseq.end=68244960;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_018227;refseq.name2=UBA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y44Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=68244960;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr4 68249360 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr4;refseq.codingCoordStr=c.71+2;refseq.end=68249360;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_018227;refseq.name2=UBA6;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=68249360;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr4 68462994 . A G 250.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=98.76;MQ0=0;OQ=10083.12;QD=19.35;RankSumP=0.297500;SB=-3676.99;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1002T>C;refseq.codingCoordStr_2=c.1011T>C;refseq.codonCoord_1=334;refseq.codonCoord_2=337;refseq.end_1=68462994;refseq.end_2=68462994;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1123;refseq.mrnaCoord_2=1132;refseq.name2_1=TMPRSS11A;refseq.name2_2=TMPRSS11A;refseq.name_1=NM_001114387;refseq.name_2=NM_182606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D334D;refseq.proteinCoordStr_2=p.D337D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=68462994;refseq.start_2=68462994;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 68467369 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=438;Dels=0.00;HRun=1;HaplotypeScore=17.63;MQ=98.75;MQ0=0;OQ=7964.18;QD=18.18;RankSumP=0.341273;SB=-2701.95;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.869A>G;refseq.codingCoordStr_2=c.878A>G;refseq.codonCoord_1=290;refseq.codonCoord_2=293;refseq.end_1=68467369;refseq.end_2=68467369;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=990;refseq.mrnaCoord_2=999;refseq.name2_1=TMPRSS11A;refseq.name2_2=TMPRSS11A;refseq.name_1=NM_001114387;refseq.name_2=NM_182606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q290R;refseq.proteinCoordStr_2=p.Q293R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.start_1=68467369;refseq.start_2=68467369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr4 68494878 . C T 420.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.31;MQ0=0;OQ=7801.84;QD=40.85;RankSumP=1.00000;SB=-3417.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.18G>A;refseq.codingCoordStr_2=c.18G>A;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=68494878;refseq.end_2=68494878;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=139;refseq.mrnaCoord_2=139;refseq.name2_1=TMPRSS11A;refseq.name2_2=TMPRSS11A;refseq.name_1=NM_001114387;refseq.name_2=NM_182606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V6V;refseq.proteinCoordStr_2=p.V6V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=68494878;refseq.start_2=68494878;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr4 68611335 . G A 218.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.85;MQ0=0;OQ=16878.72;QD=40.38;RankSumP=1.00000;SB=-6079.95;SecondBestBaseQ=0;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.end_1=68612987;refseq.end_2=68611335;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=276;refseq.name2_1=TMPRSS11F;refseq.name2_2=SYT14L;refseq.name_1=NM_207407;refseq.name_2=NR_027094;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=276;refseq.start_1=68607792;refseq.start_2=68611335;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr4 68678124 . C T 250.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.68;MQ0=0;OQ=11089.71;QD=41.23;RankSumP=1.00000;SB=-5285.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.10G>A;refseq.codonCoord=4;refseq.end=68678124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_207407;refseq.name2=TMPRSS11F;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=68678124;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr4 68777102 . T A 128.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=10.09;MQ=98.95;MQ0=0;OQ=14197.81;QD=40.92;RankSumP=1.00000;SB=-6458.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1042A>T;refseq.codonCoord=348;refseq.end=68777102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_182502;refseq.name2=TMPRSS11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T348S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-48;refseq.start=68777102;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr4 68777170 . T G 333.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.70;MQ0=0;OQ=6570.63;QD=41.07;RankSumP=1.00000;SB=-1915.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.974A>C;refseq.codonCoord=325;refseq.end=68777170;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_182502;refseq.name2=TMPRSS11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D325A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=28;refseq.start=68777170;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 68777792 . T C 427.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5749.57;QD=41.66;RankSumP=1.00000;SB=-2528.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.724A>G;refseq.codonCoord=242;refseq.end=68777792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_182502;refseq.name2=TMPRSS11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I242V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=38;refseq.start=68777792;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr4 68886146 . A T 257.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=98.33;MQ0=0;OQ=12001.69;QD=40.96;RankSumP=1.00000;SB=-5656.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.198T>A;refseq.codingCoordStr_2=c.198T>A;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.end_1=68886146;refseq.end_2=68886146;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=551;refseq.name2_1=YTHDC1;refseq.name2_2=YTHDC1;refseq.name_1=NM_001031732;refseq.name_2=NM_133370;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S66S;refseq.proteinCoordStr_2=p.S66S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=68886146;refseq.start_2=68886146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr4 69547466 rs4148269 T G 48.06 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=9.41;MQ0=179;QD=0.27;SB=-10.00;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1568A>C;refseq.codonCoord=523;refseq.end=69547466;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1606;refseq.name=NM_001076;refseq.name2=UGT2B15;refseq.positionType=CDS;refseq.proteinCoordStr=p.K523T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=255;refseq.start=69547466;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,181:2:-8.21,-0.60,-0.00:6.02 chr4 69830215 . C T 149.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=75.20;MQ0=22;OQ=2684.78;QD=15.25;RankSumP=0.000154612;SB=-634.45;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1489G>A;refseq.codonCoord_2=497;refseq.end_1=69830215;refseq.end_2=69830215;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1617;refseq.mrnaCoord_2=1520;refseq.name2_1=UGT2A3;refseq.name2_2=UGT2A3;refseq.name_1=NR_024010;refseq.name_2=NM_024743;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A497T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=185;refseq.spliceDist_2=185;refseq.start_1=69830215;refseq.start_2=69830215;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 0/1 chr4 69831523 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1023A>C;refseq.codonCoord_2=341;refseq.end_1=69831523;refseq.end_2=69831523;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1151;refseq.mrnaCoord_2=1054;refseq.name2_1=UGT2A3;refseq.name2_2=UGT2A3;refseq.name_1=NR_024010;refseq.name_2=NM_024743;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K341N;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=69831523;refseq.start_2=69831523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr4 69998860 . A G 163.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=10.82;MQ=94.74;MQ0=0;OQ=5783.26;QD=15.34;RankSumP=0.213753;SB=-1189.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.735A>G;refseq.codonCoord=245;refseq.end=69998860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_001074;refseq.name2=UGT2B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=14;refseq.start=69998860;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 69998926 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=588;Dels=0.00;HRun=1;HaplotypeScore=35.18;MQ=92.53;MQ0=12;OQ=11558.38;QD=19.66;RankSumP=0.401095;SB=-3809.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.801A>T;refseq.codonCoord=267;refseq.end=69998926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_001074;refseq.name2=UGT2B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P267P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-70;refseq.start=69998926;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr4 69998927 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=594;Dels=0.00;HRun=0;HaplotypeScore=36.18;MQ=92.35;MQ0=12;OQ=11806.87;QD=19.88;RankSumP=0.312749;SB=-4023.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.802T>C;refseq.codonCoord=268;refseq.end=69998927;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_001074;refseq.name2=UGT2B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y268H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-69;refseq.start=69998927;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr4 70007538 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=9.76;MQ=75.61;MQ0=50;OQ=2890.54;QD=7.17;RankSumP=0.332479;SB=-971.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1059C>G;refseq.codonCoord=353;refseq.end=70007538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1105;refseq.name=NM_001074;refseq.name2=UGT2B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L353L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-32;refseq.start=70007538;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr4 70007541 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=75.53;MQ0=50;OQ=2537.53;QD=6.30;RankSumP=0.282175;SB=-711.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1062C>T;refseq.codonCoord=354;refseq.end=70007541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1108;refseq.name=NM_001074;refseq.name2=UGT2B7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y354Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-29;refseq.start=70007541;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr4 70100815 . T C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.486227;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1522A>G;refseq.codonCoord=508;refseq.end=70100815;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I508V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-180;refseq.start=70100815;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr4 70100818 . T C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.332128;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1519A>G;refseq.codonCoord=507;refseq.end=70100818;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I507V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-183;refseq.start=70100818;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr4 70104804 . A C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.152754;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1243T>G;refseq.codonCoord=415;refseq.end=70104804;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L415V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-68;refseq.start=70104804;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr4 70112997 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.0860351;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.753A>G;refseq.codonCoord=251;refseq.end=70112997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G251G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=32;refseq.start=70112997;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr4 70114350 . G C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.419227;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.680C>G;refseq.codonCoord=227;refseq.end=70114350;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=689;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S227C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-42;refseq.start=70114350;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr4 70114378 . G T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.217535;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.652C>A;refseq.codonCoord=218;refseq.end=70114378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L218I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-70;refseq.start=70114378;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 0/1 chr4 70114427 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=30.34;MQ0=163;OQ=1549.57;QD=5.83;RankSumP=0.383958;SB=-723.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=70114427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L201L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-119;refseq.start=70114427;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr4 70114564 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=3;HaplotypeScore=10.79;MQ=74.01;MQ0=0;OQ=7081.91;QD=16.51;RankSumP=0.210680;SB=-1735.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.466T>C;refseq.codonCoord=156;refseq.end=70114564;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.C156R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-256;refseq.start=70114564;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr4 70114728 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=4;HaplotypeScore=2.16;MQ=23.64;MQ0=72;OQ=195.59;QD=1.47;RankSumP=0.0224686;SB=-120.93;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.302G>A;refseq.codonCoord=101;refseq.end=70114728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R101Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=311;refseq.start=70114728;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr4 70114762 . T C 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.439851;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.268A>G;refseq.codonCoord=90;refseq.end=70114762;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I90V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=277;refseq.start=70114762;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr4 70114822 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=2;HaplotypeScore=6.10;MQ=8.76;MQ0=321;OQ=605.23;QD=1.65;RankSumP=0.431633;SB=-117.82;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.208T>C;refseq.codonCoord=70;refseq.end=70114822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_001073;refseq.name2=UGT2B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S70P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=217;refseq.start=70114822;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr4 70180819 . G A 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=55.46;MQ0=77;OQ=13087.40;QD=33.30;RankSumP=1.00000;SB=-3802.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=70180819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=14;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=14;refseq.start=70180819;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr4 70181293 . G A 228.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=96.58;MQ0=1;OQ=10896.12;QD=41.75;RankSumP=1.00000;SB=-4443.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.486G>A;refseq.codonCoord=162;refseq.end=70181293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A162A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-236;refseq.start=70181293;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr4 70181487 . G C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.254140;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.680G>C;refseq.codonCoord=227;refseq.end=70181487;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.C227S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-42;refseq.start=70181487;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 0/1 chr4 70182852 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.633542;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.753G>A;refseq.codonCoord=251;refseq.end=70182852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.G251G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=32;refseq.start=70182852;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 1/0 chr4 70182919 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0637160;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.820A>G;refseq.codonCoord=274;refseq.end=70182919;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I274V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-51;refseq.start=70182919;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr4 70190005 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=375;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=29.31;MQ0=28;OQ=642.66;QD=1.71;SB=-265.54;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1036G>A;refseq.codonCoord=346;refseq.end=70190005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1038;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A346T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=34;refseq.start=70190005;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:300,75:307:-159.98,-92.43,-1164.31:99 chr4 70190902 . T A 51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=41.33;MQ0=45;OQ=573.35;QD=9.40;RankSumP=1.00000;SB=-235.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1094T>A;refseq.codonCoord=365;refseq.end=70190902;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1096;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.L365H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=70190902;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr4 70190981 . A G 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=25.31;MQ0=150;OQ=909.29;QD=4.11;RankSumP=1.00000;SB=-291.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1173A>G;refseq.codonCoord=391;refseq.end=70190981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1175;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.V391V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=83;refseq.start=70190981;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr4 70194866 . T G 145.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=34.10;MQ0=28;OQ=1218.72;QD=19.34;RankSumP=1.00000;SB=-264.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1340T>G;refseq.codonCoord=447;refseq.end=70194866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1342;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I447R;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=30;refseq.start=70194866;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr4 70194898 . C G 197.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=39.94;MQ0=24;OQ=4171.52;QD=38.27;RankSumP=1.00000;SB=-1408.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1372C>G;refseq.codonCoord=458;refseq.end=70194898;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1374;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.H458D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=62;refseq.start=70194898;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 70195045 . G A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.418176;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1519G>A;refseq.codonCoord=507;refseq.end=70195045;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1521;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.V507I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=209;refseq.start=70195045;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr4 70195048 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.451262;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1522G>A;refseq.codonCoord=508;refseq.end=70195048;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_053039;refseq.name2=UGT2B28;refseq.positionType=CDS;refseq.proteinCoordStr=p.V508I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=212;refseq.start=70195048;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr4 70389800 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=98.22;MQ0=0;OQ=22920.70;QD=37.95;RankSumP=1.00000;SB=-9923.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.948A>G;refseq.codonCoord=316;refseq.end=70389800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_021139;refseq.name2=UGT2B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T316T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-55;refseq.start=70389800;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr4 70489837 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=438;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=92.94;MQ0=1;OQ=8562.81;QD=19.55;RankSumP=0.292118;SB=-3374.67;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1429G>A;refseq.codingCoordStr_2=c.1426G>A;refseq.codonCoord_1=477;refseq.codonCoord_2=476;refseq.end_1=70489837;refseq.end_2=70489837;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1429;refseq.mrnaCoord_2=1481;refseq.name2_1=UGT2A2;refseq.name2_2=UGT2A1;refseq.name_1=NM_001105677;refseq.name_2=NM_006798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V477I;refseq.proteinCoordStr_2=p.V476I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.start_1=70489837;refseq.start_2=70489837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr4 70495530 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1026A>C;refseq.codingCoordStr_2=c.1023A>C;refseq.codonCoord_1=342;refseq.codonCoord_2=341;refseq.end_1=70495530;refseq.end_2=70495530;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1026;refseq.mrnaCoord_2=1078;refseq.name2_1=UGT2A2;refseq.name2_2=UGT2A1;refseq.name_1=NM_001105677;refseq.name_2=NM_006798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K342N;refseq.proteinCoordStr_2=p.K341N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=70495530;refseq.start_2=70495530;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr4 70547728 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=16.12;MQ=98.93;MQ0=0;OQ=11124.29;QD=43.62;RankSumP=1.00000;SB=-4136.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.224G>A;refseq.codonCoord=75;refseq.end=70547728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_006798;refseq.name2=UGT2A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R75K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=279;refseq.start=70547728;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr4 71131547 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.47T>G;refseq.codonCoord=16;refseq.end=71131547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_152997;refseq.name2=C4orf7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V16G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-11;refseq.start=71131547;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr4 71149545 . G T 432.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.49;MQ0=0;OQ=9200.22;QD=40.35;RankSumP=1.00000;SB=-2927.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.329G>T;refseq.codonCoord=110;refseq.end=71149545;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_005212;refseq.name2=CSN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R110L;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=242;refseq.start=71149545;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr4 71149651 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=71149651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_005212;refseq.name2=CSN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A145A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-149;refseq.start=71149651;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr4 71235977 . C T 162.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=10.06;MQ=98.78;MQ0=0;OQ=10059.55;QD=41.74;RankSumP=1.00000;SB=-4563.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.632C>T;refseq.codonCoord=211;refseq.end=71235977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=718;refseq.name=NM_033122;refseq.name2=C4orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.T211I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-676;refseq.start=71235977;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr4 71236532 . A G 410.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=5694.27;QD=40.67;RankSumP=1.00000;SB=-1168.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1187A>G;refseq.codonCoord=396;refseq.end=71236532;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_033122;refseq.name2=C4orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.*396*;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=-121;refseq.start=71236532;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/1 chr4 71267019 . T C 240.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=98.59;MQ0=0;OQ=9957.92;QD=34.94;RankSumP=1.00000;SB=-3611.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.124T>C;refseq.codonCoord=42;refseq.end=71267019;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_012390;refseq.name2=SMR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C42R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=70;refseq.start=71267019;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr4 71267290 . C T 225.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=6.31;MQ=98.06;MQ0=0;OQ=8130.93;QD=43.02;RankSumP=1.00000;SB=-2222.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.395C>T;refseq.codonCoord=132;refseq.end=71267290;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_012390;refseq.name2=SMR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P132L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-123;refseq.start=71267290;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr4 71310102 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=6;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.468T>C;refseq.codonCoord=156;refseq.end=71310102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_021225;refseq.name2=PROL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N156N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-402;refseq.start=71310102;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr4 71381373 . C A 77 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.16894e-06;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.323C>A;refseq.codingCoordStr_2=c.323C>A;refseq.codingCoordStr_3=c.323C>A;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.end_1=71381373;refseq.end_2=71381373;refseq.end_3=71381373;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=550;refseq.mrnaCoord_3=513;refseq.name2_1=MUC7;refseq.name2_2=MUC7;refseq.name2_3=MUC7;refseq.name_1=NM_001145006;refseq.name_2=NM_001145007;refseq.name_3=NM_152291;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T108K;refseq.proteinCoordStr_2=p.T108K;refseq.proteinCoordStr_3=p.T108K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=269;refseq.spliceDist_2=269;refseq.spliceDist_3=269;refseq.start_1=71381373;refseq.start_2=71381373;refseq.start_3=71381373;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 1/0 chr4 71506753 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=129;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2442.36;QD=18.93;RankSumP=0.136779;SB=-855.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1061T>C;refseq.codonCoord=354;refseq.end=71506753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_016519;refseq.name2=AMBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L354P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=263;refseq.start=71506753;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr4 72644727 . C T 246.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=9.27;MQ=98.59;MQ0=0;OQ=9369.81;QD=42.40;RankSumP=1.00000;SB=-3694.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.2991C>T;refseq.codingCoordStr_2=c.2991C>T;refseq.codingCoordStr_3=c.2859C>T;refseq.codonCoord_1=997;refseq.codonCoord_2=997;refseq.codonCoord_3=953;refseq.end_1=72644727;refseq.end_2=72644727;refseq.end_3=72644727;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3108;refseq.mrnaCoord_2=3108;refseq.mrnaCoord_3=3055;refseq.name2_1=SLC4A4;refseq.name2_2=SLC4A4;refseq.name2_3=SLC4A4;refseq.name_1=NM_001098484;refseq.name_2=NM_001134742;refseq.name_3=NM_003759;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H997H;refseq.proteinCoordStr_2=p.H997H;refseq.proteinCoordStr_3=p.H953H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=72644727;refseq.start_2=72644727;refseq.start_3=72644727;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr4 72837160 . T C 350.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.76;MQ0=0;OQ=9608.06;QD=38.28;RankSumP=1.00000;SB=-4171.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1334A>G;refseq.codonCoord=445;refseq.end=72837160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1487;refseq.name=NM_000583;refseq.name2=GC;refseq.positionType=CDS;refseq.proteinCoordStr=p.H445R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-62;refseq.start=72837160;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr4 72837187 . G T 218.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=1;HaplotypeScore=3.87;MQ=98.70;MQ0=0;OQ=6094.29;QD=20.73;RankSumP=0.0750176;SB=-2446.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1307C>A;refseq.codonCoord=436;refseq.end=72837187;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_000583;refseq.name2=GC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T436K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=45;refseq.start=72837187;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr4 72837198 . A C 168.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=98.61;MQ0=0;OQ=6495.91;QD=20.95;RankSumP=0.286131;SB=-2670.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1296T>G;refseq.codonCoord=432;refseq.end=72837198;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_000583;refseq.name2=GC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D432E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=34;refseq.start=72837198;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr4 72850103 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.383A>C;refseq.codonCoord=128;refseq.end=72850103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_000583;refseq.name2=GC;refseq.positionType=CDS;refseq.proteinCoordStr=p.H128P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-91;refseq.start=72850103;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 73633150 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.80;MQ0=0;OQ=9294.39;QD=43.64;RankSumP=1.00000;SB=-3298.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.413G>A;refseq.codonCoord=138;refseq.end=73633150;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_014243;refseq.name2=ADAMTS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R138K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-92;refseq.start=73633150;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr4 74161542 . C T 388.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4906.97;QD=44.21;RankSumP=1.00000;SB=-2010.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.7731G>A;refseq.codingCoordStr_2=c.6978G>A;refseq.codonCoord_1=2577;refseq.codonCoord_2=2326;refseq.end_1=74161542;refseq.end_2=74161542;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7848;refseq.mrnaCoord_2=7095;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_032217;refseq.name_2=NM_198889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2577T;refseq.proteinCoordStr_2=p.T2326T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=74161542;refseq.start_2=74161542;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr4 74206299 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.216537;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3534C>T;refseq.codingCoordStr_2=c.2781C>T;refseq.codonCoord_1=1178;refseq.codonCoord_2=927;refseq.end_1=74206299;refseq.end_2=74206299;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3651;refseq.mrnaCoord_2=2898;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_032217;refseq.name_2=NM_198889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1178H;refseq.proteinCoordStr_2=p.H927H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=74206299;refseq.start_2=74206299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=FilteredInAll GT 1/0 chr4 74209870 . T C 272.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=10.60;MQ=98.51;MQ0=0;OQ=14218.38;QD=37.12;RankSumP=1.00000;SB=-4194.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3258A>G;refseq.codingCoordStr_2=c.2505A>G;refseq.codonCoord_1=1086;refseq.codonCoord_2=835;refseq.end_1=74209870;refseq.end_2=74209870;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3375;refseq.mrnaCoord_2=2622;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_032217;refseq.name_2=NM_198889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1086A;refseq.proteinCoordStr_2=p.A835A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=74209870;refseq.start_2=74209870;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr4 74224110 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.3085+2;refseq.end_1=74226311;refseq.end_2=74224110;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_198889;refseq.name_2=NM_032217;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=74219857;refseq.start_2=74224110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr4 74224339 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.2858T>C;refseq.codonCoord_2=953;refseq.end_1=74226311;refseq.end_2=74224339;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2975;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_198889;refseq.name_2=NM_032217;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I953T;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-228;refseq.start_1=74219857;refseq.start_2=74224339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr4 74226362 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2292A>C;refseq.codingCoordStr_2=c.2292A>C;refseq.codonCoord_1=764;refseq.codonCoord_2=764;refseq.end_1=74226362;refseq.end_2=74226362;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2409;refseq.mrnaCoord_2=2409;refseq.name2_1=ANKRD17;refseq.name2_2=ANKRD17;refseq.name_1=NM_032217;refseq.name_2=NM_198889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P764P;refseq.proteinCoordStr_2=p.P764P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=74226362;refseq.start_2=74226362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr4 74504103 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=3.13;MQ=98.41;MQ0=0;OQ=3938.48;QD=17.82;RankSumP=0.478831;SB=-338.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1668C>T;refseq.codonCoord=556;refseq.end=74504103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1741;refseq.name=NM_000477;refseq.name2=ALB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L556L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=16;refseq.start=74504103;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr4 74537194 . A G 434.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.47;MQ0=0;OQ=6884.34;QD=38.89;RankSumP=1.00000;SB=-1594.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1641A>G;refseq.codonCoord=547;refseq.end=74537194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1688;refseq.name=NM_001134;refseq.name2=AFP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T547T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-12;refseq.start=74537194;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr4 74661213 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.95;MQ0=0;OQ=5362.97;QD=27.36;RankSumP=0.424583;SB=-1831.91;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.821C>G;refseq.codingCoordStr_2=c.917C>G;refseq.codonCoord_1=274;refseq.codonCoord_2=306;refseq.end_1=74661213;refseq.end_2=74661213;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=1040;refseq.name2_1=RASSF6;refseq.name2_2=RASSF6;refseq.name_1=NM_177532;refseq.name_2=NM_201431;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A274G;refseq.proteinCoordStr_2=p.A306G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=74661213;refseq.start_2=74661213;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr4 74669937 . A G 109.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=13.55;MQ=98.78;MQ0=0;OQ=6132.89;QD=19.05;RankSumP=0.200098;SB=-1801.10;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.391T>C;refseq.codingCoordStr_2=c.487T>C;refseq.codonCoord_1=131;refseq.codonCoord_2=163;refseq.end_1=74669937;refseq.end_2=74669937;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=610;refseq.name2_1=RASSF6;refseq.name2_2=RASSF6;refseq.name_1=NM_177532;refseq.name_2=NM_201431;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S131P;refseq.proteinCoordStr_2=p.S163P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=74669937;refseq.start_2=74669937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr4 75066531 . T A 37.51 LowQual AC=1;AF=0.50;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.01;MQ0=0;QD=12.50;SB=-44.97;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4A>T;refseq.codonCoord=2;refseq.end=75066531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_002619;refseq.name2=PF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2C;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=49;refseq.start=75066531;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,2:3:-7.94,-0.90,-3.94:30.36 chr4 75082861 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=4.45;MQ=99.00;MQ0=0;OQ=6243.04;QD=40.80;RankSumP=1.00000;SB=-2707.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.168A>G;refseq.codonCoord=56;refseq.end=75082861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_002994;refseq.name2=CXCL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q56Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=59;refseq.start=75082861;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr4 75284484 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=301;Dels=0.00;HRun=2;HaplotypeScore=41.97;MQ=98.32;MQ0=0;OQ=76.71;QD=0.25;RankSumP=0.00000;SB=372.18;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.561A>C;refseq.codonCoord=187;refseq.end=75284484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_001144978;refseq.name2=MTHFD2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I187I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-44;refseq.start=75284484;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr4 75285881 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.642A>G;refseq.codonCoord=214;refseq.end=75285881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_001144978;refseq.name2=MTHFD2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G214G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=38;refseq.start=75285881;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 75467298 . A G 249.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.99;MQ0=0;OQ=6637.97;QD=20.42;RankSumP=0.302257;SB=-2680.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.351A>G;refseq.codonCoord=117;refseq.end=75467298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=517;refseq.name=NM_001432;refseq.name2=EREG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E117E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=73;refseq.start=75467298;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr4 75894865 . A T 326.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.89;MQ0=0;OQ=2713.38;QD=16.85;RankSumP=0.105777;SB=-1220.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.370T>A;refseq.codonCoord=124;refseq.end=75894865;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_001729;refseq.name2=BTC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-59;refseq.start=75894865;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr4 76666020 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.339T>C;refseq.codonCoord=113;refseq.end=76666020;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_144721;refseq.name2=THAP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V113V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=51;refseq.start=76666020;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr4 76789653 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=298;Dels=0.00;HRun=2;HaplotypeScore=7.60;MQ=98.81;MQ0=0;OQ=4846.96;QD=16.26;RankSumP=0.0393847;SB=-1468.88;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1434A>G;refseq.codingCoordStr_2=c.1335A>G;refseq.codingCoordStr_3=c.1434A>G;refseq.codonCoord_1=478;refseq.codonCoord_2=445;refseq.codonCoord_3=478;refseq.end_1=76789653;refseq.end_2=76789653;refseq.end_3=76789653;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1599;refseq.mrnaCoord_2=1635;refseq.mrnaCoord_3=1734;refseq.name2_1=G3BP2;refseq.name2_2=G3BP2;refseq.name2_3=G3BP2;refseq.name_1=NM_012297;refseq.name_2=NM_203504;refseq.name_3=NM_203505;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T478T;refseq.proteinCoordStr_2=p.T445T;refseq.proteinCoordStr_3=p.T478T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=258;refseq.spliceDist_2=258;refseq.spliceDist_3=258;refseq.start_1=76789653;refseq.start_2=76789653;refseq.start_3=76789653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr4 76803119 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.109A>G;refseq.codingCoordStr_2=c.109A>G;refseq.codingCoordStr_3=c.109A>G;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.codonCoord_3=37;refseq.end_1=76803119;refseq.end_2=76803119;refseq.end_3=76803119;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=274;refseq.mrnaCoord_2=409;refseq.mrnaCoord_3=409;refseq.name2_1=G3BP2;refseq.name2_2=G3BP2;refseq.name2_3=G3BP2;refseq.name_1=NM_012297;refseq.name_2=NM_203504;refseq.name_3=NM_203505;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N37D;refseq.proteinCoordStr_2=p.N37D;refseq.proteinCoordStr_3=p.N37D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=76803119;refseq.start_2=76803119;refseq.start_3=76803119;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=FilteredInAll GT 1/0 chr4 77012252 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=19.14;MQ=98.80;MQ0=0;OQ=17107.50;QD=38.62;RankSumP=1.00000;SB=-7390.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1599T>C;refseq.codonCoord=533;refseq.end=77012252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_006239;refseq.name2=PPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I533I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-51;refseq.start=77012252;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr4 77013369 . T G 348.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=98.95;MQ0=0;OQ=5967.74;QD=40.60;RankSumP=1.00000;SB=-2629.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1441A>C;refseq.codonCoord=481;refseq.end=77013369;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1798;refseq.name=NM_006239;refseq.name2=PPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M481L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-66;refseq.start=77013369;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 77024926 . C T 203.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.79;MQ0=0;OQ=1403.40;QD=19.77;RankSumP=0.488752;SB=-485.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.591G>A;refseq.codonCoord=197;refseq.end=77024926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_006239;refseq.name2=PPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P197P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=12;refseq.start=77024926;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr4 77028410 . A G 309.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3849.63;QD=38.50;RankSumP=1.00000;SB=-1301.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.513T>C;refseq.codonCoord=171;refseq.end=77028410;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_006239;refseq.name2=PPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-20;refseq.start=77028410;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr4 77031839 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.227G>C;refseq.codonCoord=76;refseq.end=77031839;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_006239;refseq.name2=PPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S76T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-15;refseq.start=77031839;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr4 77055161 . A G 166.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=9.30;MQ=98.71;MQ0=0;OQ=8027.81;QD=39.74;RankSumP=1.00000;SB=-1990.21;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1000T>C;refseq.codonCoord_2=334;refseq.end_1=77060075;refseq.end_2=77055161;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1064;refseq.name2_1=NAAA;refseq.name2_2=NAAA;refseq.name_1=NM_001042402;refseq.name_2=NM_014435;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F334L;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=77051541;refseq.start_2=77055161;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr4 77076333 . C T 257 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.77;MQ0=0;OQ=4322.57;QD=23.12;RankSumP=0.207294;SB=-1573.05;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.451G>A;refseq.codingCoordStr_2=c.451G>A;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=77076333;refseq.end_2=77076333;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=515;refseq.name2_1=NAAA;refseq.name2_2=NAAA;refseq.name_1=NM_001042402;refseq.name_2=NM_014435;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V151I;refseq.proteinCoordStr_2=p.V151I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=77076333;refseq.start_2=77076333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr4 77076412 . C T 143.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.17;MQ0=0;OQ=1094.51;QD=15.20;RankSumP=0.473043;SB=-234.23;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.372G>A;refseq.codingCoordStr_2=c.372G>A;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=77076412;refseq.end_2=77076412;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=436;refseq.mrnaCoord_2=436;refseq.name2_1=NAAA;refseq.name2_2=NAAA;refseq.name_1=NM_001042402;refseq.name_2=NM_014435;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V124V;refseq.proteinCoordStr_2=p.V124V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=77076412;refseq.start_2=77076412;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr4 77097740 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=7.05;MQ=94.62;MQ0=0;OQ=11406.66;QD=26.34;RankSumP=0.156556;SB=-4192.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1724C>G;refseq.codonCoord=575;refseq.end=77097740;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1843;refseq.name=NM_018115;refseq.name2=SDAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S575C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-46;refseq.start=77097740;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr4 77272858 . T C 180.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.74;MQ0=0;OQ=4884.85;QD=20.79;RankSumP=0.428690;SB=-865.65;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.749A>G;refseq.codonCoord=250;refseq.end=77272858;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_017426;refseq.name2=NUP54;refseq.positionType=CDS;refseq.proteinCoordStr=p.N250S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=39;refseq.start=77272858;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr4 77522824 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.50408e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.877C>A;refseq.codonCoord=293;refseq.end=77522824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_001042784;refseq.name2=CCDC158;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q293K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-38;refseq.start=77522824;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 77524370 . A G 209.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=14.91;MQ=98.89;MQ0=0;OQ=4854.92;QD=20.14;RankSumP=0.343991;SB=-1019.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=77524370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_001042784;refseq.name2=CCDC158;refseq.positionType=CDS;refseq.proteinCoordStr=p.H207H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-106;refseq.start=77524370;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr4 77879186 . G C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.31;MQ0=0;OQ=3908.91;QD=45.99;RankSumP=1.00000;SB=-1497.52;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.836G>C;refseq.codonCoord=279;refseq.end=77879186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1789;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G279A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=249;refseq.start=77879186;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 77879755 . C G 350.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=3475.41;QD=45.14;RankSumP=1.00000;SB=-1719.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1405C>G;refseq.codonCoord=469;refseq.end=77879755;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2358;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P469A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=818;refseq.start=77879755;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr4 77879853 . C A 10.67 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=144;Dels=0.00;HRun=1;HaplotypeScore=6.91;MQ=98.59;MQ0=0;QD=0.07;RankSumP=0.00000;SB=131.45;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1503C>A;refseq.codonCoord=501;refseq.end=77879853;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2456;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y501*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=916;refseq.start=77879853;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr4 77881272 . G A 25.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=120.85;QD=30.21;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2922G>A;refseq.codonCoord=974;refseq.end=77881272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3875;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S974S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-832;refseq.start=77881272;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/1 chr4 77881333 . C T 127.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=413.36;QD=37.58;RankSumP=1.00000;SB=-55.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2983C>T;refseq.codonCoord=995;refseq.end=77881333;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3936;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L995L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-771;refseq.start=77881333;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr4 77894529 . C T 282.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.60;MQ0=0;OQ=4189.23;QD=22.40;RankSumP=0.310507;SB=-1533.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3869C>T;refseq.codonCoord=1290;refseq.end=77894529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4822;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1290L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=42;refseq.start=77894529;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr4 77894949 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=98.25;MQ0=0;OQ=1059.08;QD=15.81;RankSumP=0.178491;SB=-443.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4289G>A;refseq.codonCoord=1430;refseq.end=77894949;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5242;refseq.name=NM_020859;refseq.name2=SHROOM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1430Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-421;refseq.start=77894949;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr4 78160765 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.871A>C;refseq.codonCoord=291;refseq.end=78160765;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_018243;refseq.name2=SEPT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T291P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-83;refseq.start=78160765;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 80547305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1074T>G;refseq.codonCoord=358;refseq.end=80547305;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1092;refseq.name=NM_033214;refseq.name2=GK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C358W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-775;refseq.start=80547305;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr4 81502938 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.118A>C;refseq.codonCoord=40;refseq.end=81502938;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_152770;refseq.name2=C4orf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.T40P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=81502938;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 82103746 . G A 250.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.79;MQ0=0;OQ=10229.56;QD=43.35;RankSumP=1.00000;SB=-5000.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.658G>A;refseq.codonCoord=220;refseq.end=82103746;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_152770;refseq.name2=C4orf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.V220I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=52;refseq.start=82103746;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr4 82186212 . C T 342.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.52;MQ0=0;OQ=6274.08;QD=41.83;RankSumP=1.00000;SB=-2743.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.613C>T;refseq.codonCoord=205;refseq.end=82186212;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_001201;refseq.name2=BMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L205F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=297;refseq.start=82186212;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr4 82186752 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1153A>G;refseq.codonCoord=385;refseq.end=82186752;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1473;refseq.name=NM_001201;refseq.name2=BMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S385G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-75;refseq.start=82186752;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr4 83566249 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1250A>C;refseq.codonCoord_2=417;refseq.end_1=83566249;refseq.end_2=83566249;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1785;refseq.mrnaCoord_2=1785;refseq.name2_1=HNRPDL;refseq.name2_2=HNRPDL;refseq.name_1=NR_003249;refseq.name_2=NM_031372;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y417S;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=83566249;refseq.start_2=83566249;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr4 83801088 . G T 215.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=505;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.85;MQ0=0;OQ=8840.59;QD=17.51;RankSumP=0.431949;SB=-3557.42;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.736C>A;refseq.codonCoord_2=246;refseq.end_1=83820873;refseq.end_2=83801088;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1056;refseq.name2_1=SCD5;refseq.name2_2=SCD5;refseq.name_1=NM_001037582;refseq.name_2=NM_024906;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L246M;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=167;refseq.start_1=83777011;refseq.start_2=83801088;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr4 83801235 . C G 232.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3191.37;QD=46.25;RankSumP=1.00000;SB=-788.86;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.589G>C;refseq.codonCoord_2=197;refseq.end_1=83820873;refseq.end_2=83801235;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=909;refseq.name2_1=SCD5;refseq.name2_2=SCD5;refseq.name_1=NM_001037582;refseq.name_2=NM_024906;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E197Q;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=20;refseq.start_1=83777011;refseq.start_2=83801235;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr4 83967678 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.2817A>C;refseq.codingCoordStr_2=c.3159A>C;refseq.codingCoordStr_3=c.3114A>C;refseq.codingCoordStr_4=c.3159A>C;refseq.codingCoordStr_5=c.3042A>C;refseq.codonCoord_1=939;refseq.codonCoord_2=1053;refseq.codonCoord_3=1038;refseq.codonCoord_4=1053;refseq.codonCoord_5=1014;refseq.end_1=83967678;refseq.end_2=83967678;refseq.end_3=83967678;refseq.end_4=83967678;refseq.end_5=83967678;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2981;refseq.mrnaCoord_2=3323;refseq.mrnaCoord_3=3278;refseq.mrnaCoord_4=3320;refseq.mrnaCoord_5=3203;refseq.name2_1=SEC31A;refseq.name2_2=SEC31A;refseq.name2_3=SEC31A;refseq.name2_4=SEC31A;refseq.name2_5=SEC31A;refseq.name_1=NM_001077206;refseq.name_2=NM_001077207;refseq.name_3=NM_001077208;refseq.name_4=NM_014933;refseq.name_5=NM_016211;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P939P;refseq.proteinCoordStr_2=p.P1053P;refseq.proteinCoordStr_3=p.P1038P;refseq.proteinCoordStr_4=p.P1053P;refseq.proteinCoordStr_5=p.P1014P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.spliceDist_1=132;refseq.spliceDist_2=132;refseq.spliceDist_3=132;refseq.spliceDist_4=132;refseq.spliceDist_5=132;refseq.start_1=83967678;refseq.start_2=83967678;refseq.start_3=83967678;refseq.start_4=83967678;refseq.start_5=83967678;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr4 84007368 . A T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=1;HaplotypeScore=3.74;MQ=98.81;MQ0=0;OQ=16970.16;QD=39.65;RankSumP=1.00000;SB=-7996.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.1008T>A;refseq.codingCoordStr_2=c.1008T>A;refseq.codingCoordStr_3=c.1008T>A;refseq.codingCoordStr_4=c.1008T>A;refseq.codingCoordStr_5=c.1008T>A;refseq.codonCoord_1=336;refseq.codonCoord_2=336;refseq.codonCoord_3=336;refseq.codonCoord_4=336;refseq.codonCoord_5=336;refseq.end_1=84007368;refseq.end_2=84007368;refseq.end_3=84007368;refseq.end_4=84007368;refseq.end_5=84007368;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1172;refseq.mrnaCoord_2=1172;refseq.mrnaCoord_3=1172;refseq.mrnaCoord_4=1169;refseq.mrnaCoord_5=1169;refseq.name2_1=SEC31A;refseq.name2_2=SEC31A;refseq.name2_3=SEC31A;refseq.name2_4=SEC31A;refseq.name2_5=SEC31A;refseq.name_1=NM_001077206;refseq.name_2=NM_001077207;refseq.name_3=NM_001077208;refseq.name_4=NM_014933;refseq.name_5=NM_016211;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G336G;refseq.proteinCoordStr_2=p.G336G;refseq.proteinCoordStr_3=p.G336G;refseq.proteinCoordStr_4=p.G336G;refseq.proteinCoordStr_5=p.G336G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.spliceDist_5=-37;refseq.start_1=84007368;refseq.start_2=84007368;refseq.start_3=84007368;refseq.start_4=84007368;refseq.start_5=84007368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=Intersection GT 1/1 chr4 84057241 . G A 193.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.79;MQ0=0;OQ=17274.76;QD=40.27;RankSumP=1.00000;SB=-7639.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.852G>A;refseq.codonCoord=284;refseq.end=84057241;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_024672;refseq.name2=THAP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.M284I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=121;refseq.start=84057241;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr4 84058823 . A G 293.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.81;MQ0=0;OQ=10427.57;QD=42.39;RankSumP=1.00000;SB=-4802.84;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2434A>G;refseq.codonCoord=812;refseq.end=84058823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2553;refseq.name=NM_024672;refseq.name2=THAP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N812D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1486;refseq.start=84058823;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 84119067 . A G 440.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.53;MQ0=0;OQ=6584.34;QD=42.48;RankSumP=1.00000;SB=-2108.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.138T>C;refseq.codingCoordStr_2=c.138T>C;refseq.codingCoordStr_3=c.801T>C;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.codonCoord_3=267;refseq.end_1=84119067;refseq.end_2=84119067;refseq.end_3=84119067;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=516;refseq.mrnaCoord_3=1179;refseq.name2_1=LIN54;refseq.name2_2=LIN54;refseq.name2_3=LIN54;refseq.name_1=NM_001115007;refseq.name_2=NM_001115008;refseq.name_3=NM_194282;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V46V;refseq.proteinCoordStr_2=p.V46V;refseq.proteinCoordStr_3=p.V267V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=84119067;refseq.start_2=84119067;refseq.start_3=84119067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr4 84449643 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5630.78;QD=43.31;RankSumP=1.00000;SB=-2317.60;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.920A>G;refseq.codingCoordStr_2=c.920A>G;refseq.codingCoordStr_3=c.920A>G;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.codonCoord_3=307;refseq.end_1=84449643;refseq.end_2=84449643;refseq.end_3=84449643;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1019;refseq.mrnaCoord_2=1057;refseq.mrnaCoord_3=1057;refseq.name2_1=HPSE;refseq.name2_2=HPSE;refseq.name2_3=HPSE;refseq.name_1=NM_001098540;refseq.name_2=NM_001166498;refseq.name_3=NM_006665;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K307R;refseq.proteinCoordStr_2=p.K307R;refseq.proteinCoordStr_3=p.K307R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=84449643;refseq.start_2=84449643;refseq.start_3=84449643;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr4 84577055 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2028T>G;refseq.codonCoord=676;refseq.end=84577055;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2207;refseq.name=NM_133636;refseq.name2=HELQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.G676G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-21;refseq.start=84577055;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 84595767 . A T 116.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=15.59;MQ=98.14;MQ0=0;OQ=9796.16;QD=33.66;RankSumP=1.00000;SB=-3129.42;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.104T>A;refseq.codonCoord=35;refseq.end=84595767;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_133636;refseq.name2=HELQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V35E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-194;refseq.start=84595767;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr4 85981409 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=98.00;MQ0=0;OQ=1008.87;QD=10.51;RankSumP=0.428259;SB=-136.22;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.336A>G;refseq.codingCoordStr_2=c.336A>G;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.end_1=85981409;refseq.end_2=85981409;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=744;refseq.mrnaCoord_2=467;refseq.name2_1=WDFY3;refseq.name2_2=WDFY3;refseq.name_1=NM_014991;refseq.name_2=NM_178583;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L112L;refseq.proteinCoordStr_2=p.L112L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=85981409;refseq.start_2=85981409;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr4 87063859 . A G 302.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.67;MQ0=0;OQ=4330.34;QD=20.82;RankSumP=0.244679;SB=-1216.83;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.303A>G;refseq.codingCoordStr_2=c.18A>G;refseq.codonCoord_1=101;refseq.codonCoord_2=6;refseq.end_1=87063859;refseq.end_2=87063859;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=303;refseq.name2_1=ARHGAP24;refseq.name2_2=ARHGAP24;refseq.name_1=NM_001025616;refseq.name_2=NM_001042669;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E101E;refseq.proteinCoordStr_2=p.E6E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=87063859;refseq.start_2=87063859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr4 87134872 . T C 323.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.80;MQ0=0;OQ=2575.71;QD=17.40;RankSumP=0.296537;SB=-1147.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1041T>C;refseq.codingCoordStr_2=c.756T>C;refseq.codingCoordStr_3=c.762T>C;refseq.codonCoord_1=347;refseq.codonCoord_2=252;refseq.codonCoord_3=254;refseq.end_1=87134872;refseq.end_2=87134872;refseq.end_3=87134872;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1490;refseq.mrnaCoord_2=1041;refseq.mrnaCoord_3=1420;refseq.name2_1=ARHGAP24;refseq.name2_2=ARHGAP24;refseq.name2_3=ARHGAP24;refseq.name_1=NM_001025616;refseq.name_2=NM_001042669;refseq.name_3=NM_031305;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N347N;refseq.proteinCoordStr_2=p.N252N;refseq.proteinCoordStr_3=p.N254N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.start_1=87134872;refseq.start_2=87134872;refseq.start_3=87134872;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr4 87134947 . G A 134.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=99.00;MQ0=0;OQ=3212.09;QD=23.11;RankSumP=0.102328;SB=-1338.88;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1116G>A;refseq.codingCoordStr_2=c.831G>A;refseq.codingCoordStr_3=c.837G>A;refseq.codonCoord_1=372;refseq.codonCoord_2=277;refseq.codonCoord_3=279;refseq.end_1=87134947;refseq.end_2=87134947;refseq.end_3=87134947;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1565;refseq.mrnaCoord_2=1116;refseq.mrnaCoord_3=1495;refseq.name2_1=ARHGAP24;refseq.name2_2=ARHGAP24;refseq.name2_3=ARHGAP24;refseq.name_1=NM_001025616;refseq.name_2=NM_001042669;refseq.name_3=NM_031305;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R372R;refseq.proteinCoordStr_2=p.R277R;refseq.proteinCoordStr_3=p.R279R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=188;refseq.spliceDist_2=188;refseq.spliceDist_3=188;refseq.start_1=87134947;refseq.start_2=87134947;refseq.start_3=87134947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr4 88028411 . G T 171.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=13.72;MQ=98.82;MQ0=0;OQ=13707.85;QD=34.36;RankSumP=1.00000;SB=-5235.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.107C>A;refseq.codonCoord=36;refseq.end=88028411;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_144645;refseq.name2=C4orf36;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=42;refseq.start=88028411;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr4 88323561 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.770G>C;refseq.codonCoord=257;refseq.end=88323561;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1026;refseq.name=NM_020803;refseq.name2=KLHL8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R257P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=88323561;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 88477507 . T C 264.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.68;MQ0=0;OQ=12046.49;QD=39.24;RankSumP=1.00000;SB=-5327.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.848A>G;refseq.codonCoord=283;refseq.end=88477507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_016245;refseq.name2=HSD17B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q283R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=36;refseq.start=88477507;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr4 88512911 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=528;Dels=0.00;HRun=1;HaplotypeScore=35.23;MQ=98.14;MQ0=0;OQ=7025.95;QD=13.31;RankSumP=0.118599;SB=-1402.13;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.531C>T;refseq.codonCoord=177;refseq.end=88512911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_016245;refseq.name2=HSD17B11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V177V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-27;refseq.start=88512911;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr4 88620640 . A G 131.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=1;HaplotypeScore=7.90;MQ=98.27;MQ0=0;OQ=4051.45;QD=23.28;RankSumP=0.491038;SB=-1474.89;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1725T>C;refseq.codingCoordStr_2=c.1725T>C;refseq.codonCoord_1=575;refseq.codonCoord_2=575;refseq.end_1=88620640;refseq.end_2=88620640;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2297;refseq.mrnaCoord_2=2195;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D575D;refseq.proteinCoordStr_2=p.D575D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=88620640;refseq.start_2=88620640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 88622633 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2744.44;QD=16.73;RankSumP=0.314104;SB=-588.00;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1635C>T;refseq.codingCoordStr_2=c.1635C>T;refseq.codonCoord_1=545;refseq.codonCoord_2=545;refseq.end_1=88622633;refseq.end_2=88622633;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2207;refseq.mrnaCoord_2=2105;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H545H;refseq.proteinCoordStr_2=p.H545H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=88622633;refseq.start_2=88622633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr4 88631830 . T C 240.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=546;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=98.77;MQ0=0;OQ=10834.41;QD=19.84;RankSumP=0.230725;SB=-3586.53;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1255A>G;refseq.codingCoordStr_2=c.1255A>G;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.end_1=88631830;refseq.end_2=88631830;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1827;refseq.mrnaCoord_2=1725;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T419A;refseq.proteinCoordStr_2=p.T419A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=88631830;refseq.start_2=88631830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr4 88634660 . G C 148.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=98.94;MQ0=0;OQ=8586.65;QD=24.75;RankSumP=0.270308;SB=-3736.89;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.316C>G;refseq.codingCoordStr_2=c.316C>G;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.end_1=88634660;refseq.end_2=88634660;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=786;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H106D;refseq.proteinCoordStr_2=p.H106D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.start_1=88634660;refseq.start_2=88634660;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 88635212 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;DB;DP=599;Dels=0.00;HRun=0;HaplotypeScore=106.87;MQ=98.13;MQ0=0;OQ=7011.06;QD=11.70;RankSumP=0.380514;SB=-2014.25;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.146C>A;refseq.codingCoordStr_2=c.146C>A;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=88635212;refseq.end_2=88635212;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=718;refseq.mrnaCoord_2=616;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A49D;refseq.proteinCoordStr_2=p.A49D;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=88635212;refseq.start_2=88635212;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap-filterIngatk GT 0/1 chr4 88635247 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=598;Dels=0.00;HRun=2;HaplotypeScore=14.90;MQ=98.59;MQ0=0;OQ=10416.08;QD=17.42;RankSumP=0.329079;SB=-3322.60;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.111T>C;refseq.codingCoordStr_2=c.111T>C;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=88635247;refseq.end_2=88635247;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=581;refseq.name2_1=SPARCL1;refseq.name2_2=SPARCL1;refseq.name_1=NM_001128310;refseq.name_2=NM_004684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P37P;refseq.proteinCoordStr_2=p.P37P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=88635247;refseq.start_2=88635247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr4 88753259 . A G 354 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=3.29;MQ=98.79;MQ0=0;OQ=8895.62;QD=39.02;RankSumP=1.00000;SB=-2696.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.897A>G;refseq.codonCoord=299;refseq.end=88753259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_014208;refseq.name2=DSPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S299S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-226;refseq.start=88753259;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr4 88755386 . G A 49.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=27.17;MQ0=0;QD=24.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2548G>A;refseq.codonCoord=850;refseq.end=88755386;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2668;refseq.name=NM_014208;refseq.name2=DSPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G850S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1426;refseq.start=88755386;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/1 chr4 88755481 . T C 12.38 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.00;MQ0=0;QD=12.38;SB=-10.00;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2643T>C;refseq.codonCoord=881;refseq.end=88755481;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2763;refseq.name=NM_014208;refseq.name2=DSPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D881D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1521;refseq.start=88755481;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.50,-0.30,-0.00:1.76 chr4 88756285 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3447A>T;refseq.codonCoord=1149;refseq.end=88756285;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3567;refseq.name=NM_014208;refseq.name2=DSPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1149D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-765;refseq.start=88756285;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr4 88803172 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=717.68;QD=21.75;RankSumP=0.518030;SB=-184.70;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1170C>T;refseq.codingCoordStr_2=c.1218C>T;refseq.codonCoord_1=390;refseq.codonCoord_2=406;refseq.end_1=88803172;refseq.end_2=88803172;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1274;refseq.mrnaCoord_2=1322;refseq.name2_1=DMP1;refseq.name2_2=DMP1;refseq.name_1=NM_001079911;refseq.name_2=NM_004407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S390S;refseq.proteinCoordStr_2=p.S406S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=1035;refseq.spliceDist_2=1035;refseq.start_1=88803172;refseq.start_2=88803172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr4 88803184 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=497.96;QD=21.65;RankSumP=0.104652;SB=-89.31;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1182G>A;refseq.codingCoordStr_2=c.1230G>A;refseq.codonCoord_1=394;refseq.codonCoord_2=410;refseq.end_1=88803184;refseq.end_2=88803184;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1286;refseq.mrnaCoord_2=1334;refseq.name2_1=DMP1;refseq.name2_2=DMP1;refseq.name_1=NM_001079911;refseq.name_2=NM_004407;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E394E;refseq.proteinCoordStr_2=p.E410E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1047;refseq.spliceDist_2=1047;refseq.start_1=88803184;refseq.start_2=88803184;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr4 88951555 . T C 178.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=98.92;MQ0=0;OQ=3190.70;QD=17.53;RankSumP=0.318617;SB=-1040.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.423T>C;refseq.codonCoord=141;refseq.end=88951555;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_004967;refseq.name2=IBSP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N141N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=18;refseq.start=88951555;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 88951770 . A G 220.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=98.44;MQ0=0;OQ=4156.13;QD=17.99;RankSumP=0.0635073;SB=-1614.29;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.638A>G;refseq.codonCoord=213;refseq.end=88951770;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_004967;refseq.name2=IBSP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D213G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=233;refseq.start=88951770;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr4 89121716 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=1027.39;QD=10.70;RankSumP=0.456662;SB=-503.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.240T>C;refseq.codingCoordStr_2=c.282T>C;refseq.codingCoordStr_3=c.201T>C;refseq.codonCoord_1=80;refseq.codonCoord_2=94;refseq.codonCoord_3=67;refseq.end_1=89121716;refseq.end_2=89121716;refseq.end_3=89121716;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=405;refseq.mrnaCoord_2=447;refseq.mrnaCoord_3=366;refseq.name2_1=SPP1;refseq.name2_2=SPP1;refseq.name2_3=SPP1;refseq.name_1=NM_000582;refseq.name_2=NM_001040058;refseq.name_3=NM_001040060;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D80D;refseq.proteinCoordStr_2=p.D94D;refseq.proteinCoordStr_3=p.D67D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.start_1=89121716;refseq.start_2=89121716;refseq.start_3=89121716;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr4 89122877 . C T 141.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=15.81;MQ=98.77;MQ0=0;OQ=5511.89;QD=18.75;RankSumP=0.199499;SB=-1214.53;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.708C>T;refseq.codingCoordStr_2=c.750C>T;refseq.codingCoordStr_3=c.669C>T;refseq.codonCoord_1=236;refseq.codonCoord_2=250;refseq.codonCoord_3=223;refseq.end_1=89122877;refseq.end_2=89122877;refseq.end_3=89122877;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=873;refseq.mrnaCoord_2=915;refseq.mrnaCoord_3=834;refseq.name2_1=SPP1;refseq.name2_2=SPP1;refseq.name2_3=SPP1;refseq.name_1=NM_000582;refseq.name_2=NM_001040058;refseq.name_3=NM_001040060;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A236A;refseq.proteinCoordStr_2=p.A250A;refseq.proteinCoordStr_3=p.A223A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=210;refseq.spliceDist_2=210;refseq.spliceDist_3=210;refseq.start_1=89122877;refseq.start_2=89122877;refseq.start_3=89122877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chr4 89122948 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.779A>C;refseq.codingCoordStr_2=c.821A>C;refseq.codingCoordStr_3=c.740A>C;refseq.codonCoord_1=260;refseq.codonCoord_2=274;refseq.codonCoord_3=247;refseq.end_1=89122948;refseq.end_2=89122948;refseq.end_3=89122948;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=944;refseq.mrnaCoord_2=986;refseq.mrnaCoord_3=905;refseq.name2_1=SPP1;refseq.name2_2=SPP1;refseq.name2_3=SPP1;refseq.name_1=NM_000582;refseq.name_2=NM_001040058;refseq.name_3=NM_001040060;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H260P;refseq.proteinCoordStr_2=p.H274P;refseq.proteinCoordStr_3=p.H247P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=281;refseq.spliceDist_2=281;refseq.spliceDist_3=281;refseq.start_1=89122948;refseq.start_2=89122948;refseq.start_3=89122948;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr4 89616114 . A G 349.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.87;MQ0=0;OQ=6145.56;QD=19.82;RankSumP=0.408564;SB=-2584.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1492A>G;refseq.codonCoord=498;refseq.end=89616114;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_016323;refseq.name2=HERC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M498V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-91;refseq.start=89616114;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr4 89634419 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=2;HaplotypeScore=9.15;MQ=99.00;MQ0=0;OQ=9383.75;QD=41.89;RankSumP=1.00000;SB=-4323.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2358T>C;refseq.codonCoord=786;refseq.end=89634419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2511;refseq.name=NM_016323;refseq.name2=HERC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L786L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=81;refseq.start=89634419;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr4 89792264 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr4;refseq.codingCoordStr=c.463+2;refseq.end=89792264;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014606;refseq.name2=HERC3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=89792264;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr4 89795480 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=453;Dels=0.00;HRun=2;HaplotypeScore=31.65;MQ=97.55;MQ0=0;OQ=167.07;QD=0.37;RankSumP=0.00000;SB=826.65;SecondBestBaseQ=19;refseq.chr=chr4;refseq.codingCoordStr=c.908+2;refseq.end=89795480;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014606;refseq.name2=HERC3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=89795480;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr4 89879244 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1544T>G;refseq.codingCoordStr_2=c.2522T>G;refseq.codonCoord_1=515;refseq.codonCoord_2=841;refseq.end_1=89879244;refseq.end_2=89879244;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1791;refseq.mrnaCoord_2=2730;refseq.name2_1=FAM13A;refseq.name2_2=FAM13A;refseq.name_1=NM_001015045;refseq.name_2=NM_014883;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V515G;refseq.proteinCoordStr_2=p.V841G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=89879244;refseq.start_2=89879244;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr4 90254572 . A G 168.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.81;MQ0=0;OQ=2130.31;QD=12.91;RankSumP=0.00779344;SB=-937.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1424A>G;refseq.codonCoord=475;refseq.end=90254572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1582;refseq.name=NM_145715;refseq.name2=TIGD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H475R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-504;refseq.start=90254572;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=filterInsoap-gatk GT 0/1 chr4 90388948 . A G 184.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.47;MQ0=0;OQ=2812.06;QD=13.20;RankSumP=0.283811;SB=-1314.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1337T>C;refseq.codonCoord=446;refseq.end=90388948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_198281;refseq.name2=GPRIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V446A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1460;refseq.start=90388948;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr4 90389885 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=564;Dels=0.00;HRun=2;HaplotypeScore=89.84;MQ=97.88;MQ0=0;OQ=409.73;QD=0.73;RankSumP=0.00000;SB=838.68;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.400A>C;refseq.codonCoord=134;refseq.end=90389885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_198281;refseq.name2=GPRIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T134P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=523;refseq.start=90389885;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr4 90390015 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.270A>C;refseq.codonCoord=90;refseq.end=90390015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_198281;refseq.name2=GPRIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A90A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=393;refseq.start=90390015;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr4 91979108 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=506;Dels=0.00;HRun=0;HaplotypeScore=27.14;MQ=35.25;MQ0=180;OQ=73.40;QD=0.15;SB=194.67;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.104T>C;refseq.codonCoord_2=35;refseq.end_1=92063533;refseq.end_2=91979108;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=185;refseq.name2_1=FAM190A;refseq.name2_2=TMSL3;refseq.name_1=NM_001145065;refseq.name_2=NM_183049;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I35T;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=185;refseq.start_1=91956030;refseq.start_2=91979108;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:454,49:207:-72.96,-62.34,-793.49:99 chr4 94225317 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.393T>G;refseq.codonCoord=131;refseq.end=94225317;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_001510;refseq.name2=GRID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C131W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-137;refseq.start=94225317;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr4 94535786 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=2;HaplotypeScore=17.20;MQ=98.80;MQ0=0;OQ=10138.99;QD=20.95;RankSumP=0.0670928;SB=-2545.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1251T>G;refseq.codonCoord=417;refseq.end=94535786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1509;refseq.name=NM_001510;refseq.name2=GRID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G417G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=94535786;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr4 95389862 . G A 153.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.61;MQ0=0;OQ=14041.56;QD=43.61;RankSumP=1.00000;SB=-6070.80;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.740G>A;refseq.codingCoordStr_2=c.740G>A;refseq.codingCoordStr_3=c.740G>A;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.codonCoord_3=247;refseq.end_1=95389862;refseq.end_2=95389862;refseq.end_3=95389862;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=995;refseq.mrnaCoord_2=917;refseq.mrnaCoord_3=995;refseq.name2_1=SMARCAD1;refseq.name2_2=SMARCAD1;refseq.name2_3=SMARCAD1;refseq.name_1=NM_001128429;refseq.name_2=NM_001128430;refseq.name_3=NM_020159;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S247N;refseq.proteinCoordStr_2=p.S247N;refseq.proteinCoordStr_3=p.S247N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=95389862;refseq.start_2=95389862;refseq.start_3=95389862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr4 95392802 . T C 363.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=98.06;MQ0=0;OQ=1270.12;QD=39.69;RankSumP=1.00000;SB=-458.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.902T>C;refseq.codingCoordStr_2=c.902T>C;refseq.codingCoordStr_3=c.902T>C;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.codonCoord_3=301;refseq.end_1=95392802;refseq.end_2=95392802;refseq.end_3=95392802;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1157;refseq.mrnaCoord_2=1079;refseq.mrnaCoord_3=1157;refseq.name2_1=SMARCAD1;refseq.name2_2=SMARCAD1;refseq.name2_3=SMARCAD1;refseq.name_1=NM_001128429;refseq.name_2=NM_001128430;refseq.name_3=NM_020159;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V301A;refseq.proteinCoordStr_2=p.V301A;refseq.proteinCoordStr_3=p.V301A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.start_1=95392802;refseq.start_2=95392802;refseq.start_3=95392802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr4 95405078 . A G 385.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4526.22;QD=40.78;RankSumP=1.00000;SB=-831.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1479A>G;refseq.codingCoordStr_2=c.1479A>G;refseq.codingCoordStr_3=c.1479A>G;refseq.codonCoord_1=493;refseq.codonCoord_2=493;refseq.codonCoord_3=493;refseq.end_1=95405078;refseq.end_2=95405078;refseq.end_3=95405078;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1734;refseq.mrnaCoord_2=1656;refseq.mrnaCoord_3=1734;refseq.name2_1=SMARCAD1;refseq.name2_2=SMARCAD1;refseq.name2_3=SMARCAD1;refseq.name_1=NM_001128429;refseq.name_2=NM_001128430;refseq.name_3=NM_020159;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q493Q;refseq.proteinCoordStr_2=p.Q493Q;refseq.proteinCoordStr_3=p.Q493Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.start_1=95405078;refseq.start_2=95405078;refseq.start_3=95405078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr4 95416543 . C T 433.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=5960.98;QD=41.98;RankSumP=1.00000;SB=-1981.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1839C>T;refseq.codingCoordStr_2=c.1839C>T;refseq.codingCoordStr_3=c.1839C>T;refseq.codonCoord_1=613;refseq.codonCoord_2=613;refseq.codonCoord_3=613;refseq.end_1=95416543;refseq.end_2=95416543;refseq.end_3=95416543;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2094;refseq.mrnaCoord_2=2016;refseq.mrnaCoord_3=2094;refseq.name2_1=SMARCAD1;refseq.name2_2=SMARCAD1;refseq.name2_3=SMARCAD1;refseq.name_1=NM_001128429;refseq.name_2=NM_001128430;refseq.name_3=NM_020159;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D613D;refseq.proteinCoordStr_2=p.D613D;refseq.proteinCoordStr_3=p.D613D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=95416543;refseq.start_2=95416543;refseq.start_3=95416543;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr4 95715905 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1185;Dels=0.00;HRun=2;HaplotypeScore=33.25;MQ=98.62;MQ0=0;OQ=25202.60;QD=21.27;RankSumP=0.119810;SB=-7627.57;SecondBestBaseQ=31;refseq.changesAA_5=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_5=c.407C>T;refseq.codonCoord_5=136;refseq.end_1=95716106;refseq.end_2=95716106;refseq.end_3=95719684;refseq.end_4=95725728;refseq.end_5=95715905;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=558;refseq.name2_1=PDLIM5;refseq.name2_2=PDLIM5;refseq.name2_3=PDLIM5;refseq.name2_4=PDLIM5;refseq.name2_5=PDLIM5;refseq.name_1=NM_001011513;refseq.name_2=NM_001011515;refseq.name_3=NM_001011516;refseq.name_4=NR_024179;refseq.name_5=NM_006457;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.S136F;refseq.referenceAA_5=Ser;refseq.referenceCodon_5=TCT;refseq.spliceDist_5=116;refseq.start_1=95713578;refseq.start_2=95713578;refseq.start_3=95713578;refseq.start_4=95713578;refseq.start_5=95715905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Phe;refseq.variantCodon_5=TTT;set=Intersection GT 0/1 chr4 95725865 . G A 229.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.91;MQ0=0;OQ=4650.32;QD=21.04;RankSumP=0.447022;SB=-1713.11;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_2=c.510G>A;refseq.codingCoordStr_3=c.528G>A;refseq.codingCoordStr_4=c.468G>A;refseq.codingCoordStr_5=c.837G>A;refseq.codonCoord_2=170;refseq.codonCoord_3=176;refseq.codonCoord_4=156;refseq.codonCoord_5=279;refseq.end_1=95725865;refseq.end_2=95725865;refseq.end_3=95725865;refseq.end_4=95725865;refseq.end_5=95725865;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=569;refseq.mrnaCoord_2=661;refseq.mrnaCoord_3=679;refseq.mrnaCoord_4=619;refseq.mrnaCoord_5=988;refseq.name2_1=PDLIM5;refseq.name2_2=PDLIM5;refseq.name2_3=PDLIM5;refseq.name2_4=PDLIM5;refseq.name2_5=PDLIM5;refseq.name_1=NR_024179;refseq.name_2=NM_001011513;refseq.name_3=NM_001011515;refseq.name_4=NM_001011516;refseq.name_5=NM_006457;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.Q170Q;refseq.proteinCoordStr_3=p.Q176Q;refseq.proteinCoordStr_4=p.Q156Q;refseq.proteinCoordStr_5=p.Q279Q;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.spliceDist_5=-47;refseq.start_1=95725865;refseq.start_2=95725865;refseq.start_3=95725865;refseq.start_4=95725865;refseq.start_5=95725865;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;set=Intersection GT 1/0 chr4 95758290 . G A 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=21.27;MQ=97.98;MQ0=0;OQ=6303.87;QD=31.68;RankSumP=1.00000;SB=-878.69;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.706G>A;refseq.codingCoordStr_3=c.1033G>A;refseq.codonCoord_2=236;refseq.codonCoord_3=345;refseq.end_1=95758290;refseq.end_2=95758290;refseq.end_3=95758290;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=765;refseq.mrnaCoord_2=857;refseq.mrnaCoord_3=1184;refseq.name2_1=PDLIM5;refseq.name2_2=PDLIM5;refseq.name2_3=PDLIM5;refseq.name_1=NR_024179;refseq.name_2=NM_001011513;refseq.name_3=NM_006457;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A236T;refseq.proteinCoordStr_3=p.A345T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=95758290;refseq.start_2=95758290;refseq.start_3=95758290;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/1 chr4 95797611 . G A 284.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=10194.33;QD=43.75;RankSumP=1.00000;SB=-3359.35;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.1148G>A;refseq.codingCoordStr_3=c.1475G>A;refseq.codonCoord_2=383;refseq.codonCoord_3=492;refseq.end_1=95797611;refseq.end_2=95797611;refseq.end_3=95797611;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1207;refseq.mrnaCoord_2=1299;refseq.mrnaCoord_3=1626;refseq.name2_1=PDLIM5;refseq.name2_2=PDLIM5;refseq.name2_3=PDLIM5;refseq.name_1=NR_024179;refseq.name_2=NM_001011513;refseq.name_3=NM_006457;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S383N;refseq.proteinCoordStr_3=p.S492N;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=95797611;refseq.start_2=95797611;refseq.start_3=95797611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr4 96325345 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=25.00;MQ=98.72;MQ0=0;OQ=14253.66;QD=37.41;RankSumP=1.00000;SB=-6531.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2162T>C;refseq.codonCoord=721;refseq.end=96325345;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2316;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.M721T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=26;refseq.start=96325345;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr4 96343004 . C T 110.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=4.30;MQ=99.00;MQ0=0;OQ=2926.87;QD=35.26;RankSumP=1.00000;SB=-1440.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2037G>A;refseq.codonCoord=679;refseq.end=96343004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2191;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A679A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-100;refseq.start=96343004;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr4 96346892 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=227;Dels=0.00;HRun=3;HaplotypeScore=8.73;MQ=98.96;MQ0=0;OQ=7714.39;QD=33.98;RankSumP=1.00000;SB=-1794.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1812A>C;refseq.codonCoord=604;refseq.end=96346892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1966;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P604P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=79;refseq.start=96346892;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr4 96390682 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.754A>C;refseq.codonCoord=252;refseq.end=96390682;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T252P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-22;refseq.start=96390682;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr4 96390704 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=21.25;MQ=98.45;MQ0=0;OQ=1619.31;QD=10.06;RankSumP=0.341784;SB=-292.36;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.732T>C;refseq.codonCoord=244;refseq.end=96390704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I244I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-44;refseq.start=96390704;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr4 96475696 . G A 359.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=98.80;MQ0=0;OQ=4606.55;QD=19.27;RankSumP=0.314343;SB=-1515.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.234C>T;refseq.codonCoord=78;refseq.end=96475696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_003728;refseq.name2=UNC5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P78P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=110;refseq.start=96475696;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr4 96981174 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.850A>C;refseq.codonCoord=284;refseq.end=96981174;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_005390;refseq.name2=PDHA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T284P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-475;refseq.start=96981174;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr4 99112460 . A G 248.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.43;MQ0=0;OQ=4816.30;QD=16.44;RankSumP=0.158881;SB=-1169.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.927T>C;refseq.codonCoord=309;refseq.end=99112460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_174952;refseq.name2=C4orf37;refseq.positionType=CDS;refseq.proteinCoordStr=p.D309D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=99112460;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr4 99112499 . C T 280.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.48;MQ0=0;OQ=5839.69;QD=17.80;RankSumP=0.381032;SB=-2410.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.888G>A;refseq.codonCoord=296;refseq.end=99112499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_174952;refseq.name2=C4orf37;refseq.positionType=CDS;refseq.proteinCoordStr=p.S296S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-46;refseq.start=99112499;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr4 100264639 . C T 388.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.58;MQ0=0;OQ=2730.73;QD=42.01;RankSumP=1.00000;SB=-1048.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1120G>A;refseq.codonCoord=374;refseq.end=100264639;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_000670;refseq.name2=ADH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V374I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=100264639;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr4 100267437 . T C 324.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.77;MQ0=0;OQ=9394.26;QD=41.02;RankSumP=1.00000;SB=-4668.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.925A>G;refseq.codonCoord=309;refseq.end=100267437;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1001;refseq.name=NM_000670;refseq.name2=ADH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I309V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-55;refseq.start=100267437;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr4 100271756 . C A 273.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.83;MQ0=0;OQ=11292.74;QD=37.90;RankSumP=1.00000;SB=-5367.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.765G>T;refseq.codonCoord=255;refseq.end=100271756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_000670;refseq.name2=ADH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-79;refseq.start=100271756;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr4 100281842 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=98.96;MQ0=0;OQ=18645.28;QD=42.28;RankSumP=1.00000;SB=-8749.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.135T>C;refseq.codonCoord=45;refseq.end=100281842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_000670;refseq.name2=ADH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=15;refseq.start=100281842;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr4 100359329 . A T 313.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=98.80;MQ0=0;OQ=9722.57;QD=41.73;RankSumP=1.00000;SB=-4710.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.4T>A;refseq.codingCoordStr_2=c.4T>A;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.end_1=100359329;refseq.end_2=100359329;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=98;refseq.mrnaCoord_2=98;refseq.name2_1=ADH6;refseq.name2_2=ADH6;refseq.name_1=NM_000672;refseq.name_2=NM_001102470;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C2S;refseq.proteinCoordStr_2=p.C2S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=100359329;refseq.start_2=100359329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr4 100454076 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=1;HaplotypeScore=46.07;MQ=34.39;MQ0=527;OQ=4298.71;QD=6.77;RankSumP=1.00000;SB=-865.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.753T>C;refseq.codonCoord=251;refseq.end=100454076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_000668;refseq.name2=ADH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I251I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-76;refseq.start=100454076;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/1 chr4 100458342 . T C 223.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.13;MQ0=0;OQ=13962.29;QD=37.63;RankSumP=1.00000;SB=-5384.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.143A>G;refseq.codonCoord=48;refseq.end=100458342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_000668;refseq.name2=ADH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H48R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=23;refseq.start=100458342;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr4 100653326 . G A 34 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=6.34574e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.65G>A;refseq.codonCoord=22;refseq.end=100653326;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_032149;refseq.name2=C4orf17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R22K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-63;refseq.start=100653326;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr4 100662743 . G A 190.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=3.86;MQ=98.76;MQ0=0;OQ=6263.88;QD=18.00;RankSumP=0.0130372;SB=-2445.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.191G>A;refseq.codonCoord=64;refseq.end=100662743;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_032149;refseq.name2=C4orf17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G64E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=64;refseq.start=100662743;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 100662805 . T C 9 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=4;HaplotypeScore=8.30;MQ=98.61;MQ0=0;OQ=4984.33;QD=17.25;RankSumP=0.424978;SB=-2023.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.253T>C;refseq.codonCoord=85;refseq.end=100662805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=615;refseq.name=NM_032149;refseq.name2=C4orf17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S85P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-85;refseq.start=100662805;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/0 chr4 100662807 . C G 264.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.62;MQ0=0;OQ=5458.90;QD=18.63;RankSumP=0.244392;SB=-2282.81;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.255C>G;refseq.codonCoord=85;refseq.end=100662807;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_032149;refseq.name2=C4orf17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S85S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-83;refseq.start=100662807;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/0 chr4 100662823 . G A 218.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.61;MQ0=0;OQ=5669.24;QD=17.44;RankSumP=0.150284;SB=-2282.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.271G>A;refseq.codonCoord=91;refseq.end=100662823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_032149;refseq.name2=C4orf17;refseq.positionType=CDS;refseq.proteinCoordStr=p.E91K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-67;refseq.start=100662823;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr4 100722182 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=497;Dels=0.00;HRun=1;HaplotypeScore=11.78;MQ=98.94;MQ0=0;OQ=8526.92;QD=17.16;RankSumP=0.488106;SB=-3428.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.159C>A;refseq.codonCoord=53;refseq.end=100722182;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=415;refseq.name=NM_000253;refseq.name2=MTTP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D53E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-91;refseq.start=100722182;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 100723687 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=2;HaplotypeScore=2.95;MQ=98.73;MQ0=0;OQ=2081.32;QD=13.88;RankSumP=0.360002;SB=-819.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.383T>C;refseq.codonCoord=128;refseq.end=100723687;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_000253;refseq.name2=MTTP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I128T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-11;refseq.start=100723687;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr4 101563219 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.511A>C;refseq.codingCoordStr_2=c.550A>C;refseq.codonCoord_1=171;refseq.codonCoord_2=184;refseq.end_1=101563219;refseq.end_2=101563219;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=729;refseq.name2_1=EMCN;refseq.name2_2=EMCN;refseq.name_1=NM_001159694;refseq.name_2=NM_016242;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T171P;refseq.proteinCoordStr_2=p.T184P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=101563219;refseq.start_2=101563219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr4 102931084 . G T 31.45 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.83;MQ0=0;QD=6.29;RankSumP=0.785714;SB=-39.36;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.24G>T;refseq.codingCoordStr_2=c.24G>T;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=102931084;refseq.end_2=102931084;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=298;refseq.mrnaCoord_2=298;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name_1=NM_001127507;refseq.name_2=NM_017935;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K8N;refseq.proteinCoordStr_2=p.K8N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=102931084;refseq.start_2=102931084;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 0/1 chr4 102970099 . G A 272.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=5522.80;QD=18.66;RankSumP=0.000422686;SB=-2043.53;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.92G>A;refseq.codingCoordStr_3=c.182G>A;refseq.codonCoord_2=31;refseq.codonCoord_3=61;refseq.end_1=102995204;refseq.end_2=102970099;refseq.end_3=102970099;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=225;refseq.mrnaCoord_3=456;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name2_3=BANK1;refseq.name_1=NM_001127507;refseq.name_2=NM_001083907;refseq.name_3=NM_017935;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R31H;refseq.proteinCoordStr_3=p.R61H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_2=112;refseq.spliceDist_3=112;refseq.start_1=102931141;refseq.start_2=102970099;refseq.start_3=102970099;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=filterInsoap-gatk GT 1/0 chr4 102970299 . C T 210.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=3.85;MQ=98.51;MQ0=0;OQ=3129.92;QD=14.76;RankSumP=0.160609;SB=-1477.23;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.292C>T;refseq.codingCoordStr_3=c.382C>T;refseq.codonCoord_2=98;refseq.codonCoord_3=128;refseq.end_1=102995204;refseq.end_2=102970299;refseq.end_3=102970299;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=425;refseq.mrnaCoord_3=656;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name2_3=BANK1;refseq.name_1=NM_001127507;refseq.name_2=NM_001083907;refseq.name_3=NM_017935;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L98L;refseq.proteinCoordStr_3=p.L128L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=102931141;refseq.start_2=102970299;refseq.start_3=102970299;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=Intersection GT 0/1 chr4 103058310 . G A 295.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.78;MQ0=0;OQ=4636.46;QD=22.18;RankSumP=0.275214;SB=-1503.07;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1057G>A;refseq.codingCoordStr_2=c.748G>A;refseq.codingCoordStr_3=c.1147G>A;refseq.codonCoord_1=353;refseq.codonCoord_2=250;refseq.codonCoord_3=383;refseq.end_1=103058310;refseq.end_2=103058310;refseq.end_3=103058310;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1190;refseq.mrnaCoord_2=1022;refseq.mrnaCoord_3=1421;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name2_3=BANK1;refseq.name_1=NM_001083907;refseq.name_2=NM_001127507;refseq.name_3=NM_017935;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A353T;refseq.proteinCoordStr_2=p.A250T;refseq.proteinCoordStr_3=p.A383T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=103058310;refseq.start_2=103058310;refseq.start_3=103058310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr4 103165415 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=4.32;MQ=98.78;MQ0=0;OQ=1279.51;QD=15.42;RankSumP=0.132353;SB=-306.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1230G>A;refseq.codingCoordStr_2=c.921G>A;refseq.codingCoordStr_3=c.1320G>A;refseq.codonCoord_1=410;refseq.codonCoord_2=307;refseq.codonCoord_3=440;refseq.end_1=103165415;refseq.end_2=103165415;refseq.end_3=103165415;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1363;refseq.mrnaCoord_2=1195;refseq.mrnaCoord_3=1594;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name2_3=BANK1;refseq.name_1=NM_001083907;refseq.name_2=NM_001127507;refseq.name_3=NM_017935;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R410R;refseq.proteinCoordStr_2=p.R307R;refseq.proteinCoordStr_3=p.R440R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=103165415;refseq.start_2=103165415;refseq.start_3=103165415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr4 103184066 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=524;Dels=0.00;HRun=1;HaplotypeScore=8.54;MQ=98.91;MQ0=0;OQ=20534.78;QD=39.19;RankSumP=1.00000;SB=-10234.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1858T>C;refseq.codingCoordStr_2=c.1549T>C;refseq.codingCoordStr_3=c.1948T>C;refseq.codonCoord_1=620;refseq.codonCoord_2=517;refseq.codonCoord_3=650;refseq.end_1=103184066;refseq.end_2=103184066;refseq.end_3=103184066;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1991;refseq.mrnaCoord_2=1823;refseq.mrnaCoord_3=2222;refseq.name2_1=BANK1;refseq.name2_2=BANK1;refseq.name2_3=BANK1;refseq.name_1=NM_001083907;refseq.name_2=NM_001127507;refseq.name_3=NM_017935;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C620R;refseq.proteinCoordStr_2=p.C517R;refseq.proteinCoordStr_3=p.C650R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=103184066;refseq.start_2=103184066;refseq.start_3=103184066;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr4 103444536 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=2;HaplotypeScore=10.46;MQ=99.00;MQ0=0;OQ=7153.59;QD=21.48;RankSumP=0.444778;SB=-2700.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.801A>G;refseq.codingCoordStr_2=c.801A>G;refseq.codingCoordStr_3=c.600A>G;refseq.codingCoordStr_4=c.801A>G;refseq.codonCoord_1=267;refseq.codonCoord_2=267;refseq.codonCoord_3=200;refseq.codonCoord_4=267;refseq.end_1=103444536;refseq.end_2=103444536;refseq.end_3=103444536;refseq.end_4=103444536;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1208;refseq.mrnaCoord_2=1165;refseq.mrnaCoord_3=645;refseq.mrnaCoord_4=1330;refseq.name2_1=SLC39A8;refseq.name2_2=SLC39A8;refseq.name2_3=SLC39A8;refseq.name2_4=SLC39A8;refseq.name_1=NM_001135146;refseq.name_2=NM_001135147;refseq.name_3=NM_001135148;refseq.name_4=NM_022154;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G267G;refseq.proteinCoordStr_2=p.G267G;refseq.proteinCoordStr_3=p.G200G;refseq.proteinCoordStr_4=p.G267G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=103444536;refseq.start_2=103444536;refseq.start_3=103444536;refseq.start_4=103444536;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=Intersection GT 1/0 chr4 103447757 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=98.00;MQ0=0;OQ=1786.98;QD=15.41;RankSumP=0.160181;SB=-810.71;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.411G>A;refseq.codingCoordStr_2=c.411G>A;refseq.codingCoordStr_3=c.210G>A;refseq.codingCoordStr_4=c.411G>A;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.codonCoord_3=70;refseq.codonCoord_4=137;refseq.end_1=103447757;refseq.end_2=103447757;refseq.end_3=103447757;refseq.end_4=103447757;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=818;refseq.mrnaCoord_2=775;refseq.mrnaCoord_3=255;refseq.mrnaCoord_4=940;refseq.name2_1=SLC39A8;refseq.name2_2=SLC39A8;refseq.name2_3=SLC39A8;refseq.name2_4=SLC39A8;refseq.name_1=NM_001135146;refseq.name_2=NM_001135147;refseq.name_3=NM_001135148;refseq.name_4=NM_022154;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T137T;refseq.proteinCoordStr_2=p.T137T;refseq.proteinCoordStr_3=p.T70T;refseq.proteinCoordStr_4=p.T137T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.start_1=103447757;refseq.start_2=103447757;refseq.start_3=103447757;refseq.start_4=103447757;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 0/1 chr4 103724927 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.975A>C;refseq.codingCoordStr_2=c.978A>C;refseq.codonCoord_1=325;refseq.codonCoord_2=326;refseq.end_1=103724927;refseq.end_2=103724927;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1445;refseq.name2_1=NFKB1;refseq.name2_2=NFKB1;refseq.name_1=NM_001165412;refseq.name_2=NM_003998;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K325N;refseq.proteinCoordStr_2=p.K326N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=103724927;refseq.start_2=103724927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr4 103733696 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=19.21;MQ=98.42;MQ0=0;OQ=803.12;QD=6.92;RankSumP=0.255790;SB=-10.00;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1140T>C;refseq.codingCoordStr_2=c.1143T>C;refseq.codonCoord_1=380;refseq.codonCoord_2=381;refseq.end_1=103733696;refseq.end_2=103733696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1607;refseq.mrnaCoord_2=1610;refseq.name2_1=NFKB1;refseq.name2_2=NFKB1;refseq.name_1=NM_001165412;refseq.name_2=NM_003998;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A380A;refseq.proteinCoordStr_2=p.A381A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=103733696;refseq.start_2=103733696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr4 103737738 . A G 305.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=11.22;MQ=98.84;MQ0=0;OQ=7887.82;QD=19.77;RankSumP=0.321463;SB=-3360.68;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1516A>G;refseq.codingCoordStr_2=c.1519A>G;refseq.codonCoord_1=506;refseq.codonCoord_2=507;refseq.end_1=103737738;refseq.end_2=103737738;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=1986;refseq.name2_1=NFKB1;refseq.name2_2=NFKB1;refseq.name_1=NM_001165412;refseq.name_2=NM_003998;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M506V;refseq.proteinCoordStr_2=p.M507V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=103737738;refseq.start_2=103737738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr4 103779957 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1975T>G;refseq.codonCoord=659;refseq.end=103779957;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2075;refseq.name=NM_005908;refseq.name2=MANBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L659V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-40;refseq.start=103779957;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr4 103809244 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1241A>G;refseq.codonCoord=414;refseq.end=103809244;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_005908;refseq.name2=MANBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D414G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=11;refseq.start=103809244;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr4 104027951 . T C 0.05 PASS AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=0;HaplotypeScore=13.00;MQ=10.93;MQ0=187;OQ=165.67;QD=0.85;SB=-43.68;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.336T>C;refseq.codonCoord_2=112;refseq.end_1=104046109;refseq.end_2=104027951;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=443;refseq.name2_1=NHEDC1;refseq.name2_2=CISD2;refseq.name_1=NM_001100874;refseq.name_2=NM_001008388;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G112G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=18;refseq.start_1=104025931;refseq.start_2=104027951;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=gatk GT:AD:DP:GL:GQ 0/1:140,54:6:-21.65,-1.81,-3.57:17.60 chr4 104027955 . C T 0.04 PASS AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=10.69;MQ0=196;OQ=165.39;QD=0.81;SB=-47.55;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.340C>T;refseq.codonCoord_2=114;refseq.end_1=104046109;refseq.end_2=104027955;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=447;refseq.name2_1=NHEDC1;refseq.name2_2=CISD2;refseq.name_1=NM_001100874;refseq.name_2=NM_001008388;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H114Y;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=22;refseq.start_1=104025931;refseq.start_2=104027955;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=gatk GT:AD:DP:GL:GQ 0/1:147,56:6:-21.62,-1.81,-3.40:15.90 chr4 104028008 rs3974627 G A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=3.00;MQ=5.61;MQ0=109;OQ=72.79;QD=0.64;SB=-10.00;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.393G>A;refseq.codonCoord_2=131;refseq.end_1=104046109;refseq.end_2=104028008;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=500;refseq.name2_1=NHEDC1;refseq.name2_2=CISD2;refseq.name_1=NM_001100874;refseq.name_2=NM_001008388;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K131K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=75;refseq.start_1=104025931;refseq.start_2=104028008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:87,27:4:-11.77,-1.20,-4.27:30.64 chr4 104041747 . C T 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.398601;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1524G>A;refseq.codonCoord_2=508;refseq.end_1=104046109;refseq.end_2=104041747;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1646;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q508Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=192;refseq.start_1=104025931;refseq.start_2=104041747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=soap GT 0/1 chr4 104041853 . G A 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1397;Dels=0.00;HRun=0;HaplotypeScore=27.47;MQ=20.23;MQ0=517;OQ=13053.23;QD=9.34;RankSumP=2.22718e-05;SB=-4591.97;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1418C>T;refseq.codonCoord_2=473;refseq.end_1=104046109;refseq.end_2=104041853;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1540;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A473V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=86;refseq.start_1=104025931;refseq.start_2=104041853;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=FilteredInAll GT 1/0 chr4 104041873 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.315826;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1398G>A;refseq.codonCoord_2=466;refseq.end_1=104046109;refseq.end_2=104041873;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1520;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A466A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=66;refseq.start_1=104025931;refseq.start_2=104041873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=soap GT 0/1 chr4 104041904 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.735828;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.1367G>C;refseq.codonCoord_2=456;refseq.end_1=104046109;refseq.end_2=104041904;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1489;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R456T;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGA;refseq.spliceDist_2=35;refseq.start_1=104025931;refseq.start_2=104041904;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=soap GT 1/0 chr4 104046134 . T A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.514530;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1318A>T;refseq.codingCoordStr_2=c.1318A>T;refseq.codonCoord_1=440;refseq.codonCoord_2=440;refseq.end_1=104046134;refseq.end_2=104046134;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1440;refseq.mrnaCoord_2=1440;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K440*;refseq.proteinCoordStr_2=p.K440*;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=104046134;refseq.start_2=104046134;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr4 104052046 . A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=38.83;MQ0=42;OQ=504.70;QD=2.97;SB=-142.18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.927T>C;refseq.codingCoordStr_2=c.927T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=104052046;refseq.end_2=104052046;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1049;refseq.mrnaCoord_2=1049;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S309S;refseq.proteinCoordStr_2=p.S309S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=104052046;refseq.start_2=104052046;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:137,33:116:-88.69,-34.93,-394.82:99 chr4 104052060 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=229;Dels=0.00;HRun=2;HaplotypeScore=47.30;MQ=36.97;MQ0=42;OQ=724.16;QD=3.16;SB=-232.74;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.913C>T;refseq.codingCoordStr_2=c.913C>T;refseq.codonCoord_1=305;refseq.codonCoord_2=305;refseq.end_1=104052060;refseq.end_2=104052060;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1035;refseq.mrnaCoord_2=1035;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R305*;refseq.proteinCoordStr_2=p.R305*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=104052060;refseq.start_2=104052060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:183,46:163:-124.81,-49.11,-477.97:99 chr4 104052099 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=272;Dels=0.00;HRun=2;HaplotypeScore=33.04;MQ=40.58;MQ0=23;OQ=474.33;QD=1.74;SB=-187.70;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.874A>T;refseq.codingCoordStr_2=c.874A>T;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.end_1=104052099;refseq.end_2=104052099;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=996;refseq.mrnaCoord_2=996;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I292F;refseq.proteinCoordStr_2=p.I292F;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=104052099;refseq.start_2=104052099;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:231,41:234:-121.18,-70.46,-819.29:99 chr4 104052114 . T C 0.04 PASS AC=1;AF=0.50;AN=2;DP=244;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=40.01;MQ0=22;OQ=214.46;QD=0.88;SB=111.77;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.859A>G;refseq.codingCoordStr_2=c.859A>G;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=104052114;refseq.end_2=104052114;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=981;refseq.mrnaCoord_2=981;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I287V;refseq.proteinCoordStr_2=p.I287V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=104052114;refseq.start_2=104052114;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=gatk GT:AD:DP:GL:GQ 0/1:212,32:210:-87.97,-63.24,-805.73:99 chr4 104052136 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=178;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=45.31;MQ0=21;OQ=328.65;QD=1.85;SB=69.71;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.837A>G;refseq.codingCoordStr_2=c.837A>G;refseq.codonCoord_1=279;refseq.codonCoord_2=279;refseq.end_1=104052136;refseq.end_2=104052136;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=959;refseq.mrnaCoord_2=959;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I279M;refseq.proteinCoordStr_2=p.I279M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=104052136;refseq.start_2=104052136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:145,33:150:-81.32,-45.17,-552.93:99 chr4 104130518 . C A 361.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.95;MQ0=0;OQ=4506.88;QD=39.53;RankSumP=1.00000;SB=-2072.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.99G>T;refseq.codingCoordStr_2=c.99G>T;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=104130518;refseq.end_2=104130518;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=221;refseq.mrnaCoord_2=221;refseq.name2_1=NHEDC1;refseq.name2_2=NHEDC1;refseq.name_1=NM_001100874;refseq.name_2=NM_139173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q33H;refseq.proteinCoordStr_2=p.Q33H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=104130518;refseq.start_2=104130518;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr4 104183978 . A C 344.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=7.82;MQ=98.95;MQ0=0;OQ=7337.48;QD=20.44;RankSumP=0.309295;SB=-2811.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1070T>G;refseq.codonCoord=357;refseq.end=104183978;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1942;refseq.name=NM_178833;refseq.name2=NHEDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F357C;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=74;refseq.start=104183978;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr4 104233245 . T C 229.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.23;MQ0=0;OQ=2094.52;QD=20.95;RankSumP=0.416805;SB=-908.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.209A>G;refseq.codonCoord=70;refseq.end=104233245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_020139;refseq.name2=BDH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N70S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-40;refseq.start=104233245;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr4 104281442 . C G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5472.35;QD=49.30;RankSumP=1.00000;SB=-1640.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.5732G>C;refseq.codonCoord=1911;refseq.end=104281442;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5822;refseq.name=NM_001813;refseq.name2=CENPE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1911T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-23;refseq.start=104281442;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr4 104281672 . C T 350.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.40;MQ0=0;OQ=1414.74;QD=40.42;RankSumP=1.00000;SB=-438.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.5502G>A;refseq.codonCoord=1834;refseq.end=104281672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5592;refseq.name=NM_001813;refseq.name2=CENPE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1834T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=39;refseq.start=104281672;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr4 104301798 . C T 237.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2329.22;QD=42.35;RankSumP=1.00000;SB=-637.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2025G>A;refseq.codonCoord=675;refseq.end=104301798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2115;refseq.name=NM_001813;refseq.name2=CENPE;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q675Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=60;refseq.start=104301798;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr4 104859983 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.299T>G;refseq.codonCoord=100;refseq.end=104859983;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001059;refseq.name2=TACR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V100G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-250;refseq.start=104859983;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr4 106536878 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=95.51;MQ0=0;OQ=11697.74;QD=49.99;RankSumP=1.00000;SB=-3988.89;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.792G>C;refseq.codingCoordStr_2=c.759G>C;refseq.codingCoordStr_3=c.540G>C;refseq.codingCoordStr_4=c.348G>C;refseq.codingCoordStr_5=c.846G>C;refseq.codonCoord_1=264;refseq.codonCoord_2=253;refseq.codonCoord_3=180;refseq.codonCoord_4=116;refseq.codonCoord_5=282;refseq.end_1=106536878;refseq.end_2=106536878;refseq.end_3=106536878;refseq.end_4=106536878;refseq.end_5=106536878;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=812;refseq.mrnaCoord_2=779;refseq.mrnaCoord_3=560;refseq.mrnaCoord_4=368;refseq.mrnaCoord_5=866;refseq.name2_1=PPA2;refseq.name2_2=PPA2;refseq.name2_3=PPA2;refseq.name2_4=PPA2;refseq.name2_5=PPA2;refseq.name_1=NM_001034191;refseq.name_2=NM_006903;refseq.name_3=NM_176866;refseq.name_4=NM_176867;refseq.name_5=NM_176869;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.K264N;refseq.proteinCoordStr_2=p.K253N;refseq.proteinCoordStr_3=p.K180N;refseq.proteinCoordStr_4=p.K116N;refseq.proteinCoordStr_5=p.K282N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.spliceDist_4=-24;refseq.spliceDist_5=-24;refseq.start_1=106536878;refseq.start_2=106536878;refseq.start_3=106536878;refseq.start_4=106536878;refseq.start_5=106536878;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;set=Intersection GT 1/1 chr4 106614630 . G A 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.18;MQ0=0;OQ=57.75;QD=3.21;RankSumP=0.198504;SB=-10.00;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.codingCoordStr_1=c.27C>T;refseq.codingCoordStr_2=c.27C>T;refseq.codingCoordStr_3=c.27C>T;refseq.codingCoordStr_4=c.27C>T;refseq.codingCoordStr_5=c.27C>T;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.codonCoord_3=9;refseq.codonCoord_4=9;refseq.codonCoord_5=9;refseq.end_1=106614630;refseq.end_2=106614630;refseq.end_3=106614630;refseq.end_4=106614630;refseq.end_5=106614630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=47;refseq.mrnaCoord_2=47;refseq.mrnaCoord_3=47;refseq.mrnaCoord_4=47;refseq.mrnaCoord_5=47;refseq.name2_1=PPA2;refseq.name2_2=PPA2;refseq.name2_3=PPA2;refseq.name2_4=PPA2;refseq.name2_5=PPA2;refseq.name_1=NM_001034191;refseq.name_2=NM_006903;refseq.name_3=NM_176866;refseq.name_4=NM_176867;refseq.name_5=NM_176869;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R9R;refseq.proteinCoordStr_2=p.R9R;refseq.proteinCoordStr_3=p.R9R;refseq.proteinCoordStr_4=p.R9R;refseq.proteinCoordStr_5=p.R9R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.spliceDist_4=47;refseq.spliceDist_5=47;refseq.start_1=106614630;refseq.start_2=106614630;refseq.start_3=106614630;refseq.start_4=106614630;refseq.start_5=106614630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;refseq.variantCodon_5=CGT;set=soap-filterIngatk GT 1/0 chr4 106693545 . T C 219.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=2.87;MQ=98.91;MQ0=0;OQ=5967.82;QD=37.30;RankSumP=1.00000;SB=-1758.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.174T>C;refseq.codonCoord=58;refseq.end=106693545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=320;refseq.name=NM_017700;refseq.name2=FLJ20184;refseq.positionType=CDS;refseq.proteinCoordStr=p.T58T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-23;refseq.start=106693545;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr4 107078998 . G C 120.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=5.68;MQ=98.72;MQ0=0;OQ=5402.67;QD=22.51;RankSumP=0.419070;SB=-2368.72;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.477G>C;refseq.codonCoord=159;refseq.end=107078998;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_001033047;refseq.name2=NPNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q159H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-29;refseq.start=107078998;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr4 107081179 . A G 181.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=12.89;MQ=98.83;MQ0=0;OQ=20360.54;QD=37.43;RankSumP=1.00000;SB=-7562.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.700A>G;refseq.codonCoord=234;refseq.end=107081179;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=905;refseq.name=NM_001033047;refseq.name2=NPNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.I234V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=60;refseq.start=107081179;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr4 107387821 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=245;Dels=0.00;HRun=2;HaplotypeScore=28.20;MQ=97.85;MQ0=0;OQ=56.59;QD=0.23;RankSumP=0.00000;SB=402.31;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.855A>C;refseq.codingCoordStr_2=c.855A>C;refseq.codingCoordStr_3=c.738A>C;refseq.codingCoordStr_4=c.666A>C;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.codonCoord_3=246;refseq.codonCoord_4=222;refseq.end_1=107387821;refseq.end_2=107387821;refseq.end_3=107387821;refseq.end_4=107387821;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=1041;refseq.mrnaCoord_3=1103;refseq.mrnaCoord_4=1031;refseq.name2_1=TBCK;refseq.name2_2=TBCK;refseq.name2_3=TBCK;refseq.name2_4=TBCK;refseq.name_1=NM_001163435;refseq.name_2=NM_001163436;refseq.name_3=NM_001163437;refseq.name_4=NM_033115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K285N;refseq.proteinCoordStr_2=p.K285N;refseq.proteinCoordStr_3=p.K246N;refseq.proteinCoordStr_4=p.K222N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.start_1=107387821;refseq.start_2=107387821;refseq.start_3=107387821;refseq.start_4=107387821;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=FilteredInAll GT 1/0 chr4 107387880 . G C 116.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=97.62;MQ0=0;OQ=9792.26;QD=47.54;RankSumP=1.00000;SB=-3605.13;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.796C>G;refseq.codingCoordStr_2=c.796C>G;refseq.codingCoordStr_3=c.679C>G;refseq.codingCoordStr_4=c.607C>G;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.codonCoord_3=227;refseq.codonCoord_4=203;refseq.end_1=107387880;refseq.end_2=107387880;refseq.end_3=107387880;refseq.end_4=107387880;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1161;refseq.mrnaCoord_2=982;refseq.mrnaCoord_3=1044;refseq.mrnaCoord_4=972;refseq.name2_1=TBCK;refseq.name2_2=TBCK;refseq.name2_3=TBCK;refseq.name2_4=TBCK;refseq.name_1=NM_001163435;refseq.name_2=NM_001163436;refseq.name_3=NM_001163437;refseq.name_4=NM_033115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q266E;refseq.proteinCoordStr_2=p.Q266E;refseq.proteinCoordStr_3=p.Q227E;refseq.proteinCoordStr_4=p.Q203E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.start_1=107387880;refseq.start_2=107387880;refseq.start_3=107387880;refseq.start_4=107387880;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/1 chr4 108772297 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=490;Dels=0.00;HRun=2;HaplotypeScore=15.83;MQ=98.66;MQ0=0;OQ=9920.37;QD=20.25;RankSumP=0.422350;SB=-3866.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1675C>T;refseq.codonCoord=559;refseq.end=108772297;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1759;refseq.name=NM_005443;refseq.name2=PAPSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P559S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-62;refseq.start=108772297;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr4 108795438 . G A 400.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=98.85;MQ0=0;OQ=4834.59;QD=35.29;RankSumP=1.00000;SB=-2021.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.963C>T;refseq.codonCoord=321;refseq.end=108795438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_005443;refseq.name2=PAPSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D321D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=68;refseq.start=108795438;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 108860749 . T C 304.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.38;MQ0=0;OQ=11661.80;QD=38.11;RankSumP=1.00000;SB=-5167.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=108860749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_005443;refseq.name2=PAPSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K12K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-25;refseq.start=108860749;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr4 109150488 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.42;MQ0=0;OQ=5351.97;QD=41.81;RankSumP=1.00000;SB=-2300.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.257T>C;refseq.codonCoord=86;refseq.end=109150488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_005327;refseq.name2=HADH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=109150488;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr4 109305729 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=1;HaplotypeScore=8.74;MQ=98.73;MQ0=0;OQ=10311.53;QD=20.79;RankSumP=0.291505;SB=-3910.39;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.codingCoordStr_1=c.253G>A;refseq.codingCoordStr_2=c.253G>A;refseq.codingCoordStr_3=c.49G>A;refseq.codingCoordStr_4=c.253G>A;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.codonCoord_3=17;refseq.codonCoord_4=85;refseq.end_1=109305729;refseq.end_2=109305729;refseq.end_3=109305729;refseq.end_4=109305729;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1442;refseq.mrnaCoord_3=566;refseq.mrnaCoord_4=1442;refseq.name2_1=LEF1;refseq.name2_2=LEF1;refseq.name2_3=LEF1;refseq.name2_4=LEF1;refseq.name_1=NM_001130713;refseq.name_2=NM_001130714;refseq.name_3=NM_001166119;refseq.name_4=NM_016269;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D85N;refseq.proteinCoordStr_2=p.D85N;refseq.proteinCoordStr_3=p.D17N;refseq.proteinCoordStr_4=p.D85N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=109305729;refseq.start_2=109305729;refseq.start_3=109305729;refseq.start_4=109305729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 0/1 chr4 109964785 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.65;MQ0=0;OQ=2049.24;QD=12.97;RankSumP=0.460830;SB=-856.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1839A>C;refseq.codingCoordStr_2=c.1839A>C;refseq.codonCoord_1=613;refseq.codonCoord_2=613;refseq.end_1=109964785;refseq.end_2=109964785;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2370;refseq.mrnaCoord_2=2370;refseq.name2_1=COL25A1;refseq.name2_2=COL25A1;refseq.name_1=NM_032518;refseq.name_2=NM_198721;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G613G;refseq.proteinCoordStr_2=p.G613G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=48;refseq.spliceDist_2=-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=109964785;refseq.start_2=109964785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr4 110061192 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.73;MQ0=0;OQ=1689.61;QD=11.65;RankSumP=0.448261;SB=-790.72;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.726G>A;refseq.codingCoordStr_2=c.726G>A;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.end_1=110061192;refseq.end_2=110061192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1257;refseq.name2_1=COL25A1;refseq.name2_2=COL25A1;refseq.name_1=NM_032518;refseq.name_2=NM_198721;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P242P;refseq.proteinCoordStr_2=p.P242P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=110061192;refseq.start_2=110061192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr4 110823233 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=517;Dels=0.00;HRun=1;HaplotypeScore=8.24;MQ=98.78;MQ0=0;OQ=21397.06;QD=41.39;RankSumP=1.00000;SB=-8968.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.498T>C;refseq.codonCoord=166;refseq.end=110823233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_017918;refseq.name2=CCDC109B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S166S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=47;refseq.start=110823233;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr4 110825193 . A T 123.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=98.97;MQ0=0;OQ=7844.38;QD=18.99;RankSumP=0.473471;SB=-2926.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.758A>T;refseq.codonCoord=253;refseq.end=110825193;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_017918;refseq.name2=CCDC109B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y253F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-59;refseq.start=110825193;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr4 110858259 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=631;Dels=0.00;HRun=1;HaplotypeScore=10.30;MQ=96.91;MQ0=2;OQ=12749.88;QD=20.21;RankSumP=0.350522;SB=-5211.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.345G>A;refseq.codonCoord=115;refseq.end=110858259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_030821;refseq.name2=PLA2G12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E115E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=60;refseq.start=110858259;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr4 110889907 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.70694e-07;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1064T>G;refseq.codonCoord=355;refseq.end=110889907;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_000204;refseq.name2=CFI;refseq.positionType=CDS;refseq.proteinCoordStr=p.V355G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=20;refseq.start=110889907;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 110898374 . T C 245.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.34;MQ0=0;OQ=733.96;QD=40.78;RankSumP=1.00000;SB=-381.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.898A>G;refseq.codonCoord=300;refseq.end=110898374;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_000204;refseq.name2=CFI;refseq.positionType=CDS;refseq.proteinCoordStr=p.T300A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=110898374;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr4 110956838 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=6.90;MQ=97.85;MQ0=0;OQ=695.79;QD=7.82;RankSumP=0.0836829;SB=-138.29;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.69T>C;refseq.codingCoordStr_2=c.69T>C;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=110956838;refseq.end_2=110956838;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=376;refseq.mrnaCoord_2=117;refseq.name2_1=GAR1;refseq.name2_2=GAR1;refseq.name_1=NM_018983;refseq.name_2=NM_032993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G23G;refseq.proteinCoordStr_2=p.G23G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=110956838;refseq.start_2=110956838;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr4 110976035 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.362T>G;refseq.codonCoord=121;refseq.end=110976035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_006583;refseq.name2=RRH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V121G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-36;refseq.start=110976035;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 111010360 . A T 245.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=5.25;MQ=98.79;MQ0=0;OQ=5420.66;QD=19.22;RankSumP=0.0997989;SB=-1217.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.871A>T;refseq.codonCoord=291;refseq.end=111010360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1064;refseq.name=NM_198506;refseq.name2=LRIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M291L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=111;refseq.start=111010360;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr4 111010810 . G A 278.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=98.70;MQ0=0;OQ=4519.01;QD=18.30;RankSumP=0.429141;SB=-595.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1321G>A;refseq.codonCoord=441;refseq.end=111010810;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1514;refseq.name=NM_198506;refseq.name2=LRIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A441T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=561;refseq.start=111010810;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr4 111010862 . C T 258.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=644;Dels=0.00;HRun=0;HaplotypeScore=10.46;MQ=98.67;MQ0=0;OQ=12737.79;QD=19.78;RankSumP=0.0507742;SB=-3805.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1373C>T;refseq.codonCoord=458;refseq.end=111010862;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_198506;refseq.name2=LRIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T458M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=613;refseq.start=111010862;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr4 111010992 . C T 339.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.59;MQ0=0;OQ=4794.91;QD=19.81;RankSumP=0.0865108;SB=-1336.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1503C>T;refseq.codonCoord=501;refseq.end=111010992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1696;refseq.name=NM_198506;refseq.name2=LRIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P501P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=743;refseq.start=111010992;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr4 111116764 . C T 263.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.73;MQ0=0;OQ=1838.12;QD=16.56;RankSumP=0.313951;SB=-839.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1977C>T;refseq.codonCoord=659;refseq.end=111116764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2429;refseq.name=NM_001963;refseq.name2=EGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.C659C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-77;refseq.start=111116764;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr4 111120647 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=570;Dels=0.00;HRun=1;HaplotypeScore=14.18;MQ=98.88;MQ0=0;OQ=10783.71;QD=18.92;RankSumP=0.479667;SB=-3355.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2124G>A;refseq.codonCoord=708;refseq.end=111120647;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2576;refseq.name=NM_001963;refseq.name2=EGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.M708I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=71;refseq.start=111120647;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr4 111133876 . A T 392.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.99;MQ0=0;OQ=5927.44;QD=38.74;RankSumP=1.00000;SB=-2036.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2759A>T;refseq.codonCoord=920;refseq.end=111133876;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3211;refseq.name=NM_001963;refseq.name2=EGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.E920V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=25;refseq.start=111133876;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr4 111148813 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3348T>G;refseq.codonCoord=1116;refseq.end=111148813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3800;refseq.name=NM_001963;refseq.name2=EGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1116G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-23;refseq.start=111148813;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 111617657 . A G 427 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=97.86;MQ0=0;OQ=6003.98;QD=37.29;RankSumP=1.00000;SB=-1531.21;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.638A>G;refseq.codonCoord=213;refseq.end=111617657;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=980;refseq.name=NM_001977;refseq.name2=ENPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q213R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=111617657;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr4 111629154 . T C 137.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=783.09;QD=16.31;RankSumP=0.246803;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.653T>C;refseq.codonCoord=218;refseq.end=111629154;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_001977;refseq.name2=ENPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V218A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=111629154;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr4 113286280 . G A 8.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=85.78;QD=28.59;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.95G>A;refseq.codonCoord=32;refseq.end=113286280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_152400;refseq.name2=C4orf32;refseq.positionType=CDS;refseq.proteinCoordStr=p.G32E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-59;refseq.start=113286280;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/1 chr4 113418524 . A G 269.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=98.84;MQ0=0;OQ=2893.59;QD=15.47;RankSumP=0.133541;SB=-1209.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.498T>C;refseq.codonCoord=166;refseq.end=113418524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=780;refseq.name=NM_052864;refseq.name2=TIFA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y166Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=516;refseq.start=113418524;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr4 113571271 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=8.06;MQ=98.76;MQ0=0;OQ=5069.71;QD=23.04;RankSumP=0.00583577;SB=-1482.96;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1119G>A;refseq.codingCoordStr_2=c.1119G>A;refseq.codonCoord_1=373;refseq.codonCoord_2=373;refseq.end_1=113571271;refseq.end_2=113571271;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1346;refseq.mrnaCoord_2=1398;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G373G;refseq.proteinCoordStr_2=p.G373G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=219;refseq.spliceDist_2=219;refseq.start_1=113571271;refseq.start_2=113571271;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=filterInsoap-gatk GT 1/0 chr4 113571846 . G A 170.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=19.57;MQ=98.78;MQ0=0;OQ=9020.38;QD=20.32;RankSumP=0.416882;SB=-3681.61;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1694G>A;refseq.codingCoordStr_2=c.1694G>A;refseq.codonCoord_1=565;refseq.codonCoord_2=565;refseq.end_1=113571846;refseq.end_2=113571846;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1921;refseq.mrnaCoord_2=1973;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G565D;refseq.proteinCoordStr_2=p.G565D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=794;refseq.spliceDist_2=794;refseq.start_1=113571846;refseq.start_2=113571846;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr4 113572077 . A G 367.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.67;MQ0=0;OQ=5584.21;QD=20.02;RankSumP=0.225281;SB=-2241.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1925A>G;refseq.codingCoordStr_2=c.1925A>G;refseq.codonCoord_1=642;refseq.codonCoord_2=642;refseq.end_1=113572077;refseq.end_2=113572077;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2152;refseq.mrnaCoord_2=2204;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H642R;refseq.proteinCoordStr_2=p.H642R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=1025;refseq.spliceDist_2=1025;refseq.start_1=113572077;refseq.start_2=113572077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr4 113572348 . G A 228.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.82;MQ0=0;OQ=1715.04;QD=16.03;RankSumP=0.191440;SB=-575.30;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2196G>A;refseq.codingCoordStr_2=c.2196G>A;refseq.codonCoord_1=732;refseq.codonCoord_2=732;refseq.end_1=113572348;refseq.end_2=113572348;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2423;refseq.mrnaCoord_2=2475;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M732I;refseq.proteinCoordStr_2=p.M732I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-839;refseq.spliceDist_2=-839;refseq.start_1=113572348;refseq.start_2=113572348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr4 113572734 . T C 234.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.73;MQ0=0;OQ=1702.22;QD=15.34;RankSumP=0.337006;SB=-579.83;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2582T>C;refseq.codingCoordStr_2=c.2582T>C;refseq.codonCoord_1=861;refseq.codonCoord_2=861;refseq.end_1=113572734;refseq.end_2=113572734;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2809;refseq.mrnaCoord_2=2861;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M861T;refseq.proteinCoordStr_2=p.M861T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-453;refseq.spliceDist_2=-453;refseq.start_1=113572734;refseq.start_2=113572734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr4 113573154 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3002T>G;refseq.codingCoordStr_2=c.3002T>G;refseq.codonCoord_1=1001;refseq.codonCoord_2=1001;refseq.end_1=113573154;refseq.end_2=113573154;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3229;refseq.mrnaCoord_2=3281;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1001G;refseq.proteinCoordStr_2=p.V1001G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=113573154;refseq.start_2=113573154;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr4 113579152 . A G 147.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=453;Dels=0.00;HRun=1;HaplotypeScore=3.14;MQ=98.96;MQ0=0;OQ=8566.77;QD=18.91;RankSumP=0.0359379;SB=-2699.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3252A>G;refseq.codingCoordStr_2=c.3252A>G;refseq.codonCoord_1=1084;refseq.codonCoord_2=1084;refseq.end_1=113579152;refseq.end_2=113579152;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3479;refseq.mrnaCoord_2=3531;refseq.name2_1=ALPK1;refseq.name2_2=ALPK1;refseq.name_1=NM_001102406;refseq.name_2=NM_025144;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1084R;refseq.proteinCoordStr_2=p.R1084R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=113579152;refseq.start_2=113579152;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr4 113655493 . T G 11.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=93.73;MQ0=0;OQ=201.57;QD=25.20;RankSumP=1.00000;SB=-72.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.588A>C;refseq.codonCoord=196;refseq.end=113655493;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_024019;refseq.name2=NEUROG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G196G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=589;refseq.start=113655493;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr4 113759418 . T C 304.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=99.00;MQ0=0;OQ=9771.11;QD=42.30;RankSumP=1.00000;SB=-4543.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1229A>G;refseq.codonCoord=410;refseq.end=113759418;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_018392;refseq.name2=C4orf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.N410S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=878;refseq.start=113759418;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 114495102 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_3=c.5879A>C;refseq.codonCoord_3=1960;refseq.end_1=114501417;refseq.end_2=114501417;refseq.end_3=114495102;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=5979;refseq.name2_1=ANK2;refseq.name2_2=ANK2;refseq.name2_3=ANK2;refseq.name_1=NM_001127493;refseq.name_2=NM_020977;refseq.name_3=NM_001148;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H1960P;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAC;refseq.spliceDist_3=1453;refseq.start_1=114490865;refseq.start_2=114490865;refseq.start_3=114495102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr4 115043674 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1005A>G;refseq.codonCoord=335;refseq.end=115043674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1893;refseq.name=NM_024590;refseq.name2=ARSJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.G335G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=607;refseq.start=115043674;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 115764163 . A G 199.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=4.39;MQ=98.89;MQ0=0;OQ=9161.68;QD=38.17;RankSumP=1.00000;SB=-4559.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.678A>G;refseq.codingCoordStr_2=c.678A>G;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=115764163;refseq.end_2=115764163;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1192;refseq.name2_1=UGT8;refseq.name2_2=UGT8;refseq.name_1=NM_001128174;refseq.name_2=NM_003360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P226P;refseq.proteinCoordStr_2=p.P226P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-145;refseq.spliceDist_2=-145;refseq.start_1=115764163;refseq.start_2=115764163;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr4 115808751 . A G 148.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=98.88;MQ0=0;OQ=21798.55;QD=42.33;RankSumP=1.00000;SB=-8768.58;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1104A>G;refseq.codingCoordStr_2=c.1104A>G;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.end_1=115808751;refseq.end_2=115808751;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1626;refseq.mrnaCoord_2=1618;refseq.name2_1=UGT8;refseq.name2_2=UGT8;refseq.name_1=NM_001128174;refseq.name_2=NM_003360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I368M;refseq.proteinCoordStr_2=p.I368M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=115808751;refseq.start_2=115808751;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr4 116011371 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr4;refseq.codingCoordStr=c.1719+2;refseq.end=116011371;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_022569;refseq.name2=NDST4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=116011371;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr4 119381243 . G A 78.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=13.55;MQ=98.85;MQ0=0;OQ=8233.74;QD=29.41;RankSumP=1.00000;SB=-2012.45;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2235G>A;refseq.codonCoord=745;refseq.end=119381243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2638;refseq.name=NM_004784;refseq.name2=NDST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P745P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-55;refseq.start=119381243;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr4 119478896 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.14;MQ0=0;OQ=2323.96;QD=16.14;RankSumP=0.00342276;SB=-704.23;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.524G>A;refseq.codonCoord=175;refseq.end=119478896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_003619;refseq.name2=PRSS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G175D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=22;refseq.start=119478896;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 0/1 chr4 119493160 . C G 118.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=92.88;QD=18.58;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.164G>C;refseq.codonCoord=55;refseq.end=119493160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_003619;refseq.name2=PRSS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=211;refseq.start=119493160;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 1/0 chr4 119837792 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.511C>A;refseq.codonCoord=171;refseq.end=119837792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_020961;refseq.name2=METTL14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q171K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=119837792;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr4 119938345 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.982C>A;refseq.codonCoord=328;refseq.end=119938345;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1254;refseq.name=NM_014822;refseq.name2=SEC24D;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q328K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-60;refseq.start=119938345;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 119938346 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=329;Dels=0.00;HRun=2;HaplotypeScore=42.13;MQ=97.49;MQ0=0;OQ=55.45;QD=0.17;RankSumP=0.00000;SB=522.69;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.981G>A;refseq.codonCoord=327;refseq.end=119938346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_014822;refseq.name2=SEC24D;refseq.positionType=CDS;refseq.proteinCoordStr=p.K327K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-61;refseq.start=119938346;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr4 119956244 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=18.04;MQ=98.79;MQ0=0;OQ=4204.50;QD=14.20;RankSumP=0.465841;SB=-1457.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.483T>G;refseq.codonCoord=161;refseq.end=119956244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_014822;refseq.name2=SEC24D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=86;refseq.start=119956244;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr4 120164059 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=98.76;MQ0=0;OQ=3201.90;QD=17.03;RankSumP=0.0343384;SB=-775.16;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.132G>T;refseq.codingCoordStr_2=c.132G>T;refseq.codingCoordStr_3=c.132G>T;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.end_1=120164059;refseq.end_2=120164059;refseq.end_3=120164059;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=328;refseq.mrnaCoord_2=328;refseq.mrnaCoord_3=328;refseq.name2_1=SYNPO2;refseq.name2_2=SYNPO2;refseq.name2_3=SYNPO2;refseq.name_1=NM_001128933;refseq.name_2=NM_001128934;refseq.name_3=NM_133477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G44G;refseq.proteinCoordStr_2=p.G44G;refseq.proteinCoordStr_3=p.G44G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=120164059;refseq.start_2=120164059;refseq.start_3=120164059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr4 120167413 . A T 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.257172;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.441A>T;refseq.codingCoordStr_2=c.441A>T;refseq.codingCoordStr_3=c.441A>T;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.codonCoord_3=147;refseq.end_1=120167413;refseq.end_2=120167413;refseq.end_3=120167413;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=637;refseq.mrnaCoord_2=637;refseq.mrnaCoord_3=637;refseq.name2_1=SYNPO2;refseq.name2_2=SYNPO2;refseq.name2_3=SYNPO2;refseq.name_1=NM_001128933;refseq.name_2=NM_001128934;refseq.name_3=NM_133477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R147S;refseq.proteinCoordStr_2=p.R147S;refseq.proteinCoordStr_3=p.R147S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=184;refseq.spliceDist_2=184;refseq.spliceDist_3=184;refseq.start_1=120167413;refseq.start_2=120167413;refseq.start_3=120167413;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=FilteredInAll GT 0/1 chr4 120167433 . G C 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=96.60;MQ0=0;OQ=1725.67;QD=10.92;RankSumP=0.207444;SB=-813.58;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.461G>C;refseq.codingCoordStr_2=c.461G>C;refseq.codingCoordStr_3=c.461G>C;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.codonCoord_3=154;refseq.end_1=120167433;refseq.end_2=120167433;refseq.end_3=120167433;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=657;refseq.mrnaCoord_2=657;refseq.mrnaCoord_3=657;refseq.name2_1=SYNPO2;refseq.name2_2=SYNPO2;refseq.name2_3=SYNPO2;refseq.name_1=NM_001128933;refseq.name_2=NM_001128934;refseq.name_3=NM_133477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G154A;refseq.proteinCoordStr_2=p.G154A;refseq.proteinCoordStr_3=p.G154A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=204;refseq.spliceDist_2=204;refseq.spliceDist_3=204;refseq.start_1=120167433;refseq.start_2=120167433;refseq.start_3=120167433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 0/1 chr4 120171095 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=382;Dels=0.00;HRun=3;HaplotypeScore=5.94;MQ=98.84;MQ0=0;OQ=14998.13;QD=39.26;RankSumP=1.00000;SB=-7489.95;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1717A>G;refseq.codingCoordStr_2=c.1717A>G;refseq.codingCoordStr_3=c.1717A>G;refseq.codonCoord_1=573;refseq.codonCoord_2=573;refseq.codonCoord_3=573;refseq.end_1=120171095;refseq.end_2=120171095;refseq.end_3=120171095;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1913;refseq.mrnaCoord_2=1913;refseq.mrnaCoord_3=1913;refseq.name2_1=SYNPO2;refseq.name2_2=SYNPO2;refseq.name2_3=SYNPO2;refseq.name_1=NM_001128933;refseq.name_2=NM_001128934;refseq.name_3=NM_133477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T573A;refseq.proteinCoordStr_2=p.T573A;refseq.proteinCoordStr_3=p.T573A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=648;refseq.spliceDist_2=648;refseq.spliceDist_3=648;refseq.start_1=120171095;refseq.start_2=120171095;refseq.start_3=120171095;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr4 120198355 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3604A>C;refseq.codonCoord=1202;refseq.end=120198355;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3800;refseq.name=NM_133477;refseq.name2=SYNPO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1202P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=352;refseq.start=120198355;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr4 120304897 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.460C>A;refseq.codonCoord=154;refseq.end=120304897;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_016599;refseq.name2=MYOZ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q154K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=84;refseq.start=120304897;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr4 120433478 . T G 226.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=3.30;MQ=98.97;MQ0=0;OQ=6046.95;QD=21.29;RankSumP=0.454968;SB=-2276.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2886T>G;refseq.codonCoord=962;refseq.end=120433478;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3952;refseq.name=NM_019050;refseq.name2=USP53;refseq.positionType=CDS;refseq.proteinCoordStr=p.S962R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=538;refseq.start=120433478;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr4 120459686 . T C 265.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=12.66;MQ=98.61;MQ0=0;OQ=5561.56;QD=22.25;RankSumP=0.444854;SB=-1905.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.357A>G;refseq.codonCoord=119;refseq.end=120459686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_000134;refseq.name2=FABP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V119V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=120459686;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr4 120461297 . A G 195.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=4686.54;QD=18.97;RankSumP=0.339158;SB=-1569.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.216T>C;refseq.codonCoord=72;refseq.end=120461297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_000134;refseq.name2=FABP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N72N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-25;refseq.start=120461297;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr4 120461350 . T C 161.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=99.00;MQ0=0;OQ=2591.50;QD=13.36;RankSumP=0.00626877;SB=-758.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.163A>G;refseq.codonCoord=55;refseq.end=120461350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_000134;refseq.name2=FABP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T55A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-78;refseq.start=120461350;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/0 chr4 120683131 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=3.18915e-09;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1503G>T;refseq.codingCoordStr_2=c.1377G>T;refseq.codingCoordStr_3=c.1347G>T;refseq.codonCoord_1=501;refseq.codonCoord_2=459;refseq.codonCoord_3=449;refseq.end_1=120683131;refseq.end_2=120683131;refseq.end_3=120683131;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1658;refseq.mrnaCoord_2=1489;refseq.mrnaCoord_3=1404;refseq.name2_1=PDE5A;refseq.name2_2=PDE5A;refseq.name2_3=PDE5A;refseq.name_1=NM_001083;refseq.name_2=NM_033430;refseq.name_3=NM_033437;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L501F;refseq.proteinCoordStr_2=p.L459F;refseq.proteinCoordStr_3=p.L449F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.spliceDist_3=-70;refseq.start_1=120683131;refseq.start_2=120683131;refseq.start_3=120683131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr4 120694307 . A G 353.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=98.75;MQ0=0;OQ=7225.20;QD=19.47;RankSumP=0.418934;SB=-2621.07;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1242T>C;refseq.codingCoordStr_2=c.1116T>C;refseq.codingCoordStr_3=c.1086T>C;refseq.codonCoord_1=414;refseq.codonCoord_2=372;refseq.codonCoord_3=362;refseq.end_1=120694307;refseq.end_2=120694307;refseq.end_3=120694307;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1228;refseq.mrnaCoord_3=1143;refseq.name2_1=PDE5A;refseq.name2_2=PDE5A;refseq.name2_3=PDE5A;refseq.name_1=NM_001083;refseq.name_2=NM_033430;refseq.name_3=NM_033437;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y414Y;refseq.proteinCoordStr_2=p.Y372Y;refseq.proteinCoordStr_3=p.Y362Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=120694307;refseq.start_2=120694307;refseq.start_3=120694307;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chr4 120747775 . G A 430.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=5755.55;QD=41.71;RankSumP=1.00000;SB=-1880.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.278C>T;refseq.codingCoordStr_2=c.152C>T;refseq.codingCoordStr_3=c.122C>T;refseq.codonCoord_1=93;refseq.codonCoord_2=51;refseq.codonCoord_3=41;refseq.end_1=120747775;refseq.end_2=120747775;refseq.end_3=120747775;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=433;refseq.mrnaCoord_2=264;refseq.mrnaCoord_3=179;refseq.name2_1=PDE5A;refseq.name2_2=PDE5A;refseq.name2_3=PDE5A;refseq.name_1=NM_001083;refseq.name_2=NM_033430;refseq.name_3=NM_033437;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A93V;refseq.proteinCoordStr_2=p.A51V;refseq.proteinCoordStr_3=p.A41V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=126;refseq.spliceDist_2=126;refseq.spliceDist_3=126;refseq.start_1=120747775;refseq.start_2=120747775;refseq.start_3=120747775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr4 122177009 . G A 249.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=98.88;MQ0=0;OQ=3058.38;QD=19.00;RankSumP=0.308643;SB=-1445.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1567C>T;refseq.codonCoord=523;refseq.end=122177009;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2094;refseq.name=NM_024574;refseq.name2=C4orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L523L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-778;refseq.start=122177009;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr4 122177184 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=670;Dels=0.00;HRun=1;HaplotypeScore=10.97;MQ=98.79;MQ0=0;OQ=11903.69;QD=17.77;RankSumP=0.0592225;SB=-3410.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1392A>G;refseq.codonCoord=464;refseq.end=122177184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1919;refseq.name=NM_024574;refseq.name2=C4orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.S464S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-953;refseq.start=122177184;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr4 122178141 . T C 195.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=98.93;MQ0=0;OQ=8424.42;QD=22.17;RankSumP=0.269736;SB=-2653.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.435A>G;refseq.codonCoord=145;refseq.end=122178141;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_024574;refseq.name2=C4orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L145L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=122;refseq.start=122178141;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr4 122186257 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=2;HaplotypeScore=3.99;MQ=99.00;MQ0=0;OQ=1613.70;QD=15.52;RankSumP=0.334806;SB=-561.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.186G>A;refseq.codonCoord=62;refseq.end=122186257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_024574;refseq.name2=C4orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.K62K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=122186257;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr4 122902457 . G A 160.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=98.97;MQ0=0;OQ=13978.82;QD=42.75;RankSumP=1.00000;SB=-6834.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.32C>T;refseq.codonCoord=11;refseq.end=122902457;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_152399;refseq.name2=TMEM155;refseq.positionType=CDS;refseq.proteinCoordStr=p.A11V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-23;refseq.start=122902457;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr4 122961667 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=686;Dels=0.00;HRun=0;HaplotypeScore=16.59;MQ=98.83;MQ0=0;OQ=29007.38;QD=42.28;RankSumP=1.00000;SB=-9639.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.487A>G;refseq.codonCoord=163;refseq.end=122961667;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_001237;refseq.name2=CCNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I163V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=30;refseq.start=122961667;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr4 123020437 . T C 254.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.84;MQ0=0;OQ=4774.15;QD=19.89;RankSumP=0.428080;SB=-1585.49;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2670A>G;refseq.codingCoordStr_2=c.2451A>G;refseq.codonCoord_1=890;refseq.codonCoord_2=817;refseq.end_1=123020437;refseq.end_2=123020437;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2744;refseq.mrnaCoord_2=2526;refseq.name2_1=TRPC3;refseq.name2_2=TRPC3;refseq.name_1=NM_001130698;refseq.name_2=NM_003305;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E890E;refseq.proteinCoordStr_2=p.E817E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=123020437;refseq.start_2=123020437;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr4 123043502 . C T 321.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=13.51;MQ=98.85;MQ0=0;OQ=6954.12;QD=20.10;RankSumP=0.479989;SB=-2757.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2418G>A;refseq.codingCoordStr_2=c.2199G>A;refseq.codonCoord_1=806;refseq.codonCoord_2=733;refseq.end_1=123043502;refseq.end_2=123043502;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2492;refseq.mrnaCoord_2=2274;refseq.name2_1=TRPC3;refseq.name2_2=TRPC3;refseq.name_1=NM_001130698;refseq.name_2=NM_003305;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R806R;refseq.proteinCoordStr_2=p.R733R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=123043502;refseq.start_2=123043502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr4 123328525 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.653A>C;refseq.codonCoord=218;refseq.end=123328525;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y218S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=26;refseq.start=123328525;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr4 123384562 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.4846A>C;refseq.codonCoord=1616;refseq.end=123384562;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4891;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1616P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-71;refseq.start=123384562;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr4 123391109 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=34.59;MQ=98.95;MQ0=0;OQ=7409.65;QD=19.76;RankSumP=0.185601;SB=-3139.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.5853T>A;refseq.codonCoord=1951;refseq.end=123391109;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5898;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1951E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-70;refseq.start=123391109;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 123404981 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.7266T>G;refseq.codonCoord=2422;refseq.end=123404981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7311;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2422G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-52;refseq.start=123404981;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 123411690 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=98.99;MQ0=0;OQ=3939.79;QD=21.30;RankSumP=0.300388;SB=-346.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.7561A>C;refseq.codonCoord=2521;refseq.end=123411690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7606;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2521R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=68;refseq.start=123411690;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr4 123500310 . T C 265.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.91;MQ0=0;OQ=6509.41;QD=19.97;RankSumP=0.225298;SB=-2063.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.14784T>C;refseq.codonCoord=4928;refseq.end=123500310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=14829;refseq.name=NM_015312;refseq.name2=KIAA1109;refseq.positionType=CDS;refseq.proteinCoordStr=p.H4928H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-18;refseq.start=123500310;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr4 123596932 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1381.77;QD=14.86;RankSumP=0.293034;SB=-296.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.114G>T;refseq.codonCoord=38;refseq.end=123596932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_000586;refseq.name2=IL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L38L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-34;refseq.start=123596932;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr4 123756413 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=3;HaplotypeScore=2.97;MQ=98.94;MQ0=0;OQ=5677.23;QD=21.84;RankSumP=0.0191705;SB=-2195.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.234C>T;refseq.codonCoord=78;refseq.end=123756413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_021803;refseq.name2=IL21;refseq.positionType=CDS;refseq.proteinCoordStr=p.C78C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=30;refseq.start=123756413;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr4 123883654 . G A 275.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=2717.10;QD=17.64;RankSumP=0.245385;SB=-652.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1157G>A;refseq.codonCoord=386;refseq.end=123883654;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_152618;refseq.name2=BBS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R386Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1167;refseq.start=123883654;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr4 123883877 . G C 327.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=12.49;MQ=98.53;MQ0=0;OQ=7427.54;QD=19.65;RankSumP=0.341272;SB=-1794.72;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1380G>C;refseq.codonCoord=460;refseq.end=123883877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1573;refseq.name=NM_152618;refseq.name2=BBS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V460V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1390;refseq.start=123883877;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr4 123883896 . G A 227.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=334;Dels=0.00;HRun=1;HaplotypeScore=8.18;MQ=98.57;MQ0=0;OQ=5543.57;QD=16.60;RankSumP=0.440673;SB=-1659.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1399G>A;refseq.codonCoord=467;refseq.end=123883896;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_152618;refseq.name2=BBS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D467N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1409;refseq.start=123883896;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 123883907 . C T 260.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=16.38;MQ=98.54;MQ0=0;OQ=5399.90;QD=18.18;RankSumP=0.341942;SB=-1751.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1410C>T;refseq.codonCoord=470;refseq.end=123883907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1603;refseq.name=NM_152618;refseq.name2=BBS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C470C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1420;refseq.start=123883907;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr4 123884369 . A G 341.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=8.91;MQ=98.74;MQ0=0;OQ=5614.69;QD=21.43;RankSumP=0.428346;SB=-2354.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1872A>G;refseq.codonCoord=624;refseq.end=123884369;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2065;refseq.name=NM_152618;refseq.name2=BBS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q624Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-1180;refseq.start=123884369;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr4 123967536 . C T 35.33 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.02;MQ0=0;QD=5.05;RankSumP=0.266667;SB=-40.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=123967536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_002006;refseq.name2=FGF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S52S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=224;refseq.start=123967536;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 0/1 chr4 124058208 . A G 171.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=405;Dels=0.00;HRun=1;HaplotypeScore=10.25;MQ=98.73;MQ0=0;OQ=7680.16;QD=18.96;RankSumP=0.469054;SB=-2277.87;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.340T>C;refseq.codingCoordStr_2=c.-168T>C;refseq.codonCoord_1=114;refseq.end_1=124058208;refseq.end_2=124058208;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=270;refseq.name2_1=NUDT6;refseq.name2_2=NUDT6;refseq.name_1=NM_007083;refseq.name_2=NM_198041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.C114R;refseq.referenceAA_1=Cys;refseq.referenceCodon_1=TGC;refseq.spliceDist_1=102;refseq.spliceDist_2=102;refseq.start_1=124058208;refseq.start_2=124058208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantCodon_1=CGC;set=Intersection GT 0/1 chr4 124063166 . T C 174.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=11.76;MQ=97.41;MQ0=0;OQ=1340.75;QD=14.57;RankSumP=0.0149178;SB=-626.54;SecondBestBaseQ=23;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.12A>G;refseq.codonCoord_2=4;refseq.end_1=124063395;refseq.end_2=124063166;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=44;refseq.name2_1=NUDT6;refseq.name2_2=NUDT6;refseq.name_1=NM_198041;refseq.name_2=NM_007083;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P4P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=44;refseq.start_1=124058320;refseq.start_2=124063166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr4 126458374 . A T 348.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.65;MQ0=0;OQ=8833.35;QD=39.09;RankSumP=1.00000;SB=-2895.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1358A>T;refseq.codonCoord=453;refseq.end=126458374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1358;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q453L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1358;refseq.start=126458374;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 126459436 . C T 155.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=98.73;MQ0=0;OQ=18629.61;QD=41.03;RankSumP=1.00000;SB=-9293.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2420C>T;refseq.codonCoord=807;refseq.end=126459436;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2420;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A807V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2420;refseq.start=126459436;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr4 126459960 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=13.97;MQ=98.79;MQ0=0;OQ=12945.22;QD=40.08;RankSumP=1.00000;SB=-4930.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2944T>C;refseq.codonCoord=982;refseq.end=126459960;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2944;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L982L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-2232;refseq.start=126459960;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr4 126461321 . C T 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=627;Dels=0.00;HRun=1;HaplotypeScore=12.24;MQ=98.84;MQ0=0;OQ=26460.97;QD=42.20;RankSumP=1.00000;SB=-11549.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.4305C>T;refseq.codonCoord=1435;refseq.end=126461321;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4305;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1435I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-871;refseq.start=126461321;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr4 126549239 . T C 286.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=6.84;MQ=98.85;MQ0=0;OQ=8965.78;QD=36.45;RankSumP=1.00000;SB=-4340.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.5760T>C;refseq.codonCoord=1920;refseq.end=126549239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5760;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1920D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-161;refseq.start=126549239;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr4 126589322 . G C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=12.77;MQ=98.61;MQ0=0;OQ=11294.48;QD=48.89;RankSumP=1.00000;SB=-5520.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.7701G>C;refseq.codonCoord=2567;refseq.end=126589322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7701;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2567V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=257;refseq.start=126589322;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr4 126593239 . G A 305.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=98.94;MQ0=0;OQ=4326.81;QD=41.60;RankSumP=1.00000;SB=-1375.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.11618G>A;refseq.codonCoord=3873;refseq.end=126593239;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11618;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3873N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-177;refseq.start=126593239;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr4 126622340 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=2.41;MQ=98.77;MQ0=0;OQ=4061.22;QD=19.71;RankSumP=0.353740;SB=-691.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.12813G>A;refseq.codonCoord=4271;refseq.end=126622340;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12813;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4271V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=126622340;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr4 126628036 . C T 291.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=14.99;MQ=98.93;MQ0=0;OQ=4979.04;QD=19.60;RankSumP=0.373441;SB=-1882.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.12903C>T;refseq.codonCoord=4301;refseq.end=126628036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12903;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D4301D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=87;refseq.start=126628036;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr4 126631604 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=323;Dels=0.00;HRun=2;HaplotypeScore=8.91;MQ=98.67;MQ0=0;OQ=7074.12;QD=21.90;RankSumP=0.477642;SB=-2798.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.14177G>A;refseq.codonCoord=4726;refseq.end=126631604;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=14177;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4726K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1099;refseq.start=126631604;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr4 126632025 . A G 237.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=6.62;MQ=98.58;MQ0=0;OQ=12750.85;QD=40.74;RankSumP=1.00000;SB=-5819.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.14598A>G;refseq.codonCoord=4866;refseq.end=126632025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14598;refseq.name=NM_024582;refseq.name2=FAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4866R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1513;refseq.start=126632025;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 128784450 . A G 241.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=4.23;MQ=98.72;MQ0=0;OQ=6411.81;QD=20.68;RankSumP=0.182470;SB=-2294.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.471A>G;refseq.codonCoord=157;refseq.end=128784450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_015693;refseq.name2=INTU;refseq.positionType=CDS;refseq.proteinCoordStr=p.R157R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-212;refseq.start=128784450;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr4 128804030 . G A 136.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.88;MQ0=0;OQ=2149.04;QD=14.42;RankSumP=0.143305;SB=-777.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.813G>A;refseq.codonCoord=271;refseq.end=128804030;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_015693;refseq.name2=INTU;refseq.positionType=CDS;refseq.proteinCoordStr=p.T271T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=45;refseq.start=128804030;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr4 128909386 . A G 232.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1787.74;QD=17.19;RankSumP=0.304255;SB=-522.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.663A>G;refseq.codonCoord=221;refseq.end=128909386;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_031291;refseq.name2=SLC25A31;refseq.positionType=CDS;refseq.proteinCoordStr=p.P221P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=30;refseq.start=128909386;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr4 128942492 . T C 279.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.72;MQ0=0;OQ=2842.03;QD=15.62;RankSumP=0.231571;SB=-1128.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.632T>C;refseq.codonCoord=211;refseq.end=128942492;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_014278;refseq.name2=HSPA4L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-32;refseq.start=128942492;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr4 129026669 . T A 130.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=493;Dels=0.00;HRun=1;HaplotypeScore=10.66;MQ=98.89;MQ0=0;OQ=9483.78;QD=19.24;RankSumP=0.320551;SB=-2661.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.694T>A;refseq.codonCoord=232;refseq.end=129026669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_014264;refseq.name2=PLK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S232T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=357;refseq.start=129026669;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr4 129034414 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=592;Dels=0.00;HRun=0;HaplotypeScore=25.43;MQ=98.73;MQ0=0;OQ=10744.09;QD=18.15;RankSumP=0.179139;SB=-3994.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2490G>T;refseq.codonCoord=830;refseq.end=129034414;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2735;refseq.name=NM_014264;refseq.name2=PLK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E830D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-73;refseq.start=129034414;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr4 129231631 . G A 83.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=348.90;QD=13.42;RankSumP=0.000147723;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.384G>A;refseq.codingCoordStr_2=c.384G>A;refseq.codingCoordStr_3=c.384G>A;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.codonCoord_3=128;refseq.end_1=129231631;refseq.end_2=129231631;refseq.end_3=129231631;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=515;refseq.mrnaCoord_3=515;refseq.name2_1=LARP1B;refseq.name2_2=LARP1B;refseq.name2_3=LARP1B;refseq.name_1=NM_018078;refseq.name_2=NM_032239;refseq.name_3=NM_178043;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R128R;refseq.proteinCoordStr_2=p.R128R;refseq.proteinCoordStr_3=p.R128R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=129231631;refseq.start_2=129231631;refseq.start_3=129231631;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=filterInsoap-gatk GT 1/0 chr4 129232088 . A G 178.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=572;Dels=0.00;HRun=0;HaplotypeScore=12.25;MQ=95.79;MQ0=0;OQ=9124.35;QD=15.95;RankSumP=0.295798;SB=-3588.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.639A>G;refseq.codingCoordStr_2=c.639A>G;refseq.codingCoordStr_3=c.639A>G;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.codonCoord_3=213;refseq.end_1=129232088;refseq.end_2=129232088;refseq.end_3=129232088;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=770;refseq.mrnaCoord_2=770;refseq.mrnaCoord_3=770;refseq.name2_1=LARP1B;refseq.name2_2=LARP1B;refseq.name2_3=LARP1B;refseq.name_1=NM_018078;refseq.name_2=NM_032239;refseq.name_3=NM_178043;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A213A;refseq.proteinCoordStr_2=p.A213A;refseq.proteinCoordStr_3=p.A213A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=129232088;refseq.start_2=129232088;refseq.start_3=129232088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 0/1 chr4 129262654 . C G 161.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=20.05;MQ=93.03;MQ0=24;OQ=10293.23;QD=20.92;RankSumP=0.253313;SB=-3506.28;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1385C>G;refseq.codingCoordStr_2=c.1385C>G;refseq.codonCoord_1=462;refseq.codonCoord_2=462;refseq.end_1=129262654;refseq.end_2=129262654;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1516;refseq.name2_1=LARP1B;refseq.name2_2=LARP1B;refseq.name_1=NM_018078;refseq.name_2=NM_178043;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P462R;refseq.proteinCoordStr_2=p.P462R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-140;refseq.spliceDist_2=224;refseq.start_1=129262654;refseq.start_2=129262654;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr4 129262736 . C T 228.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=1;HaplotypeScore=7.32;MQ=97.71;MQ0=0;OQ=7099.17;QD=21.07;RankSumP=0.434572;SB=-2208.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1467C>T;refseq.codingCoordStr_2=c.1467C>T;refseq.codonCoord_1=489;refseq.codonCoord_2=489;refseq.end_1=129262736;refseq.end_2=129262736;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1598;refseq.mrnaCoord_2=1598;refseq.name2_1=LARP1B;refseq.name2_2=LARP1B;refseq.name_1=NM_018078;refseq.name_2=NM_178043;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y489Y;refseq.proteinCoordStr_2=p.Y489Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-222;refseq.start_1=129262736;refseq.start_2=129262736;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr4 129320093 . G A 323.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=12.27;MQ=98.70;MQ0=0;OQ=5390.36;QD=18.15;RankSumP=0.238552;SB=-1591.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1979G>A;refseq.codonCoord=660;refseq.end=129320093;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2110;refseq.name=NM_018078;refseq.name2=LARP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R660H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-25;refseq.start=129320093;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr4 130086730 . T A 272.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=98.58;MQ0=0;OQ=1876.11;QD=15.90;RankSumP=0.456026;SB=-931.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1321A>T;refseq.codonCoord=441;refseq.end=130086730;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1827;refseq.name=NM_144643;refseq.name2=SCLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S441C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=28;refseq.start=130086730;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr4 130144427 . C A 202.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=8.19;MQ=98.85;MQ0=0;OQ=11190.60;QD=37.93;RankSumP=1.00000;SB=-5409.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.345G>T;refseq.codonCoord=115;refseq.end=130144427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_144643;refseq.name2=SCLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L115L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=55;refseq.start=130144427;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr4 130250102 . A G 435.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=5758.83;QD=40.84;RankSumP=1.00000;SB=-2187.89;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.319A>G;refseq.codingCoordStr_2=c.319A>G;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=130250102;refseq.end_2=130250102;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=411;refseq.mrnaCoord_2=683;refseq.name2_1=C4orf33;refseq.name2_2=C4orf33;refseq.name_1=NM_001099783;refseq.name_2=NM_173487;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M107V;refseq.proteinCoordStr_2=p.M107V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=130250102;refseq.start_2=130250102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr4 134291303 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.558G>A;refseq.codingCoordStr_2=c.558G>A;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.end_1=134291303;refseq.end_2=134291303;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1384;refseq.mrnaCoord_2=1384;refseq.name2_1=PCDH10;refseq.name2_2=PCDH10;refseq.name_1=NM_020815;refseq.name_2=NM_032961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E186E;refseq.proteinCoordStr_2=p.E186E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1384;refseq.spliceDist_2=1384;refseq.start_1=134291303;refseq.start_2=134291303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr4 138669133 . A G 128.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=10.60;MQ=98.71;MQ0=0;OQ=13062.34;QD=34.11;RankSumP=1.00000;SB=-4056.15;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2689T>C;refseq.codonCoord=897;refseq.end=138669133;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3076;refseq.name=NM_019035;refseq.name2=PCDH18;refseq.positionType=CDS;refseq.proteinCoordStr=p.L897L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-52;refseq.start=138669133;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr4 139319822 . C T 392.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=8373.38;QD=44.07;RankSumP=1.00000;SB=-2624.48;SecondBestBaseQ=0;refseq.chr=chr4;refseq.codingCoordStr=c.1442+1;refseq.end=139319822;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_014331;refseq.name2=SLC7A11;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=139319822;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr4 139359944 . G C 308.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=8.11;MQ=98.89;MQ0=0;OQ=5836.18;QD=15.90;RankSumP=0.447377;SB=-1758.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.672C>G;refseq.codonCoord=224;refseq.end=139359944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=952;refseq.name=NM_014331;refseq.name2=SLC7A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A224A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=26;refseq.start=139359944;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr4 140185390 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.608T>C;refseq.codonCoord=203;refseq.end=140185390;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=801;refseq.name=NM_012118;refseq.name2=CCRN4L;refseq.positionType=CDS;refseq.proteinCoordStr=p.F203S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=148;refseq.start=140185390;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr4 140224744 . A G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=613;Dels=0.00;HRun=1;HaplotypeScore=14.09;MQ=98.38;MQ0=0;OQ=24280.62;QD=39.61;RankSumP=1.00000;SB=-8104.90;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.51T>C;refseq.codonCoord_2=17;refseq.end_1=140265757;refseq.end_2=140224744;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=354;refseq.name2_1=ELF2;refseq.name2_2=ELF2;refseq.name_1=NM_201999;refseq.name_2=NM_006874;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I17I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=140214182;refseq.start_2=140224744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr4 142372063 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=4.45836e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.544G>T;refseq.codonCoord=182;refseq.end=142372063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_014487;refseq.name2=ZNF330;refseq.positionType=CDS;refseq.proteinCoordStr=p.G182C;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=21;refseq.start=142372063;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr4 143262790 . A G 200.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=9.02;MQ=98.87;MQ0=0;OQ=5267.53;QD=21.41;RankSumP=0.285117;SB=-1370.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2076T>C;refseq.codingCoordStr_2=c.2076T>C;refseq.codonCoord_1=692;refseq.codonCoord_2=692;refseq.end_1=143262790;refseq.end_2=143262790;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2572;refseq.mrnaCoord_2=2671;refseq.name2_1=INPP4B;refseq.name2_2=INPP4B;refseq.name_1=NM_001101669;refseq.name_2=NM_003866;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V692V;refseq.proteinCoordStr_2=p.V692V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=143262790;refseq.start_2=143262790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr4 143286504 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=644;Dels=0.00;HRun=0;HaplotypeScore=30.37;MQ=98.76;MQ0=0;OQ=13536.66;QD=21.02;RankSumP=0.316097;SB=-3622.88;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1659C>T;refseq.codingCoordStr_2=c.1659C>T;refseq.codonCoord_1=553;refseq.codonCoord_2=553;refseq.end_1=143286504;refseq.end_2=143286504;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2155;refseq.mrnaCoord_2=2254;refseq.name2_1=INPP4B;refseq.name2_2=INPP4B;refseq.name_1=NM_001101669;refseq.name_2=NM_003866;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G553G;refseq.proteinCoordStr_2=p.G553G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=143286504;refseq.start_2=143286504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr4 144326232 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.179T>G;refseq.codonCoord=60;refseq.end=144326232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_032557;refseq.name2=USP38;refseq.positionType=CDS;refseq.proteinCoordStr=p.V60G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-504;refseq.start=144326232;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 144686554 . T C 399.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=2659.47;QD=37.99;RankSumP=1.00000;SB=-1230.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2424T>C;refseq.codonCoord=808;refseq.end=144686554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2886;refseq.name=NM_003601;refseq.name2=SMARCA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N808N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=27;refseq.start=144686554;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr4 145261136 . A G 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=71.86;MQ0=4;OQ=259.84;QD=23.62;RankSumP=1.00000;SB=-144.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.93T>C;refseq.codonCoord=31;refseq.end=145261136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_002099;refseq.name2=GYPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-44;refseq.start=145261136;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr4 145261157 rs7658293 C A 41.25 LowQual AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=68.17;MQ0=2;QD=8.25;SB=-45.95;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.72G>T;refseq.codonCoord=24;refseq.end=145261157;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_002099;refseq.name2=GYPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E24D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=35;refseq.start=145261157;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:2,3:2:-7.53,-0.60,-0.00:6.02 chr4 145261158 rs7687256 T C 45.56 LowQual AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=3.86;MQ=68.17;MQ0=2;QD=9.11;SB=-49.69;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.71A>G;refseq.codonCoord=24;refseq.end=145261158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_002099;refseq.name2=GYPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E24G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=34;refseq.start=145261158;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:2,3:2:-7.96,-0.60,-0.00:6.02 chr4 145261191 . T G 22.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=83.07;MQ0=2;OQ=299.75;QD=29.98;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.38A>C;refseq.codonCoord=13;refseq.end=145261191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_002099;refseq.name2=GYPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E13A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=145261191;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/1 chr4 146252857 . C G 40.52 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=90.20;MQ0=0;QD=0.84;SB=-31.58;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.727C>G;refseq.codingCoordStr_2=c.727C>G;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.end_1=146252857;refseq.end_2=146252857;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1167;refseq.mrnaCoord_2=1170;refseq.name2_1=ABCE1;refseq.name2_2=ABCE1;refseq.name_1=NM_001040876;refseq.name_2=NM_002940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P243A;refseq.proteinCoordStr_2=p.P243A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=146252857;refseq.start_2=146252857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:44,4:42:-19.99,-12.65,-181.47:73.36 chr4 146260584 . A C 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.375575;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.973A>C;refseq.codingCoordStr_2=c.973A>C;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.end_1=146260584;refseq.end_2=146260584;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1413;refseq.mrnaCoord_2=1416;refseq.name2_1=ABCE1;refseq.name2_2=ABCE1;refseq.name_1=NM_001040876;refseq.name_2=NM_002940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R325R;refseq.proteinCoordStr_2=p.R325R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=146260584;refseq.start_2=146260584;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=soap GT 0/1 chr4 146260585 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.298289;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.974G>A;refseq.codingCoordStr_2=c.974G>A;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.end_1=146260585;refseq.end_2=146260585;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1414;refseq.mrnaCoord_2=1417;refseq.name2_1=ABCE1;refseq.name2_2=ABCE1;refseq.name_1=NM_001040876;refseq.name_2=NM_002940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R325K;refseq.proteinCoordStr_2=p.R325K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=146260585;refseq.start_2=146260585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap GT 1/0 chr4 146260688 . A G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.222459;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1077A>G;refseq.codingCoordStr_2=c.1077A>G;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=146260688;refseq.end_2=146260688;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1517;refseq.mrnaCoord_2=1520;refseq.name2_1=ABCE1;refseq.name2_2=ABCE1;refseq.name_1=NM_001040876;refseq.name_2=NM_002940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E359E;refseq.proteinCoordStr_2=p.E359E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=146260688;refseq.start_2=146260688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 0/1 chr4 146260710 . G A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.383548;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1099G>A;refseq.codingCoordStr_2=c.1099G>A;refseq.codonCoord_1=367;refseq.codonCoord_2=367;refseq.end_1=146260710;refseq.end_2=146260710;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1539;refseq.mrnaCoord_2=1542;refseq.name2_1=ABCE1;refseq.name2_2=ABCE1;refseq.name_1=NM_001040876;refseq.name_2=NM_002940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G367R;refseq.proteinCoordStr_2=p.G367R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=146260710;refseq.start_2=146260710;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=soap GT 1/0 chr4 146278341 . A C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.356527;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2841T>G;refseq.codingCoordStr_2=c.2838T>G;refseq.codonCoord_1=947;refseq.codonCoord_2=946;refseq.end_1=146278341;refseq.end_2=146278341;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2979;refseq.mrnaCoord_2=2976;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V947V;refseq.proteinCoordStr_2=p.V946V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=912;refseq.spliceDist_2=912;refseq.start_1=146278341;refseq.start_2=146278341;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr4 146278416 . G A 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.439655;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2766C>T;refseq.codingCoordStr_2=c.2763C>T;refseq.codonCoord_1=922;refseq.codonCoord_2=921;refseq.end_1=146278416;refseq.end_2=146278416;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2904;refseq.mrnaCoord_2=2901;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S922S;refseq.proteinCoordStr_2=p.S921S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=837;refseq.spliceDist_2=837;refseq.start_1=146278416;refseq.start_2=146278416;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 1/0 chr4 146278719 . T C 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.297036;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2463A>G;refseq.codingCoordStr_2=c.2460A>G;refseq.codonCoord_1=821;refseq.codonCoord_2=820;refseq.end_1=146278719;refseq.end_2=146278719;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2601;refseq.mrnaCoord_2=2598;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E821E;refseq.proteinCoordStr_2=p.E820E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=534;refseq.spliceDist_2=534;refseq.start_1=146278719;refseq.start_2=146278719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 1/0 chr4 146278790 . A G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.547619;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2392T>C;refseq.codingCoordStr_2=c.2389T>C;refseq.codonCoord_1=798;refseq.codonCoord_2=797;refseq.end_1=146278790;refseq.end_2=146278790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2530;refseq.mrnaCoord_2=2527;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y798H;refseq.proteinCoordStr_2=p.Y797H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=463;refseq.spliceDist_2=463;refseq.start_1=146278790;refseq.start_2=146278790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap GT 0/1 chr4 146282850 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1575A>C;refseq.codingCoordStr_2=c.1572A>C;refseq.codonCoord_1=525;refseq.codonCoord_2=524;refseq.end_1=146282850;refseq.end_2=146282850;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1713;refseq.mrnaCoord_2=1710;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L525F;refseq.proteinCoordStr_2=p.L524F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=146282850;refseq.start_2=146282850;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 1/0 chr4 146291270 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.909C>A;refseq.codingCoordStr_2=c.906C>A;refseq.codonCoord_1=303;refseq.codonCoord_2=302;refseq.end_1=146291270;refseq.end_2=146291270;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1047;refseq.mrnaCoord_2=1044;refseq.name2_1=OTUD4;refseq.name2_2=OTUD4;refseq.name_1=NM_001102653;refseq.name_2=NM_199324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S303R;refseq.proteinCoordStr_2=p.S302R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=146291270;refseq.start_2=146291270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 0/1 chr4 146795868 . G C 269.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=98.94;MQ0=0;OQ=1757.29;QD=19.31;RankSumP=0.478542;SB=-612.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1089G>C;refseq.codonCoord=363;refseq.end=146795868;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1174;refseq.name=NM_172250;refseq.name2=MMAA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q363H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=120;refseq.start=146795868;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr4 148683195 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.932G>C;refseq.codingCoordStr_3=c.1259G>C;refseq.codonCoord_2=311;refseq.codonCoord_3=420;refseq.end_1=148683195;refseq.end_2=148683195;refseq.end_3=148683195;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1299;refseq.mrnaCoord_2=1462;refseq.mrnaCoord_3=1789;refseq.name2_1=EDNRA;refseq.name2_2=EDNRA;refseq.name2_3=EDNRA;refseq.name_1=NR_028596;refseq.name_2=NM_001166055;refseq.name_3=NM_001957;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S311T;refseq.proteinCoordStr_3=p.S420T;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=148683195;refseq.start_2=148683195;refseq.start_3=148683195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr4 149575966 . A G 383.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.66;MQ0=0;OQ=7075.21;QD=37.04;RankSumP=1.00000;SB=-3501.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1497T>C;refseq.codingCoordStr_2=c.1497T>C;refseq.codonCoord_1=499;refseq.codonCoord_2=499;refseq.end_1=149575966;refseq.end_2=149575966;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1860;refseq.mrnaCoord_2=1860;refseq.name2_1=NR3C2;refseq.name2_2=NR3C2;refseq.name_1=NM_000901;refseq.name_2=NM_001166104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D499D;refseq.proteinCoordStr_2=p.D499D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-261;refseq.spliceDist_2=-261;refseq.start_1=149575966;refseq.start_2=149575966;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr4 149576487 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.976G>C;refseq.codingCoordStr_2=c.976G>C;refseq.codonCoord_1=326;refseq.codonCoord_2=326;refseq.end_1=149576487;refseq.end_2=149576487;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1339;refseq.mrnaCoord_2=1339;refseq.name2_1=NR3C2;refseq.name2_2=NR3C2;refseq.name_1=NM_000901;refseq.name_2=NM_001166104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A326P;refseq.proteinCoordStr_2=p.A326P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-782;refseq.spliceDist_2=-782;refseq.start_1=149576487;refseq.start_2=149576487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr4 149576925 . C T 125.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=600;Dels=0.00;HRun=0;HaplotypeScore=7.36;MQ=98.62;MQ0=0;OQ=24450.19;QD=40.75;RankSumP=1.00000;SB=-10026.96;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.538G>A;refseq.codingCoordStr_2=c.538G>A;refseq.codonCoord_1=180;refseq.codonCoord_2=180;refseq.end_1=149576925;refseq.end_2=149576925;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=901;refseq.mrnaCoord_2=901;refseq.name2_1=NR3C2;refseq.name2_2=NR3C2;refseq.name_1=NM_000901;refseq.name_2=NM_001166104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V180I;refseq.proteinCoordStr_2=p.V180I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=540;refseq.spliceDist_2=540;refseq.start_1=149576925;refseq.start_2=149576925;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr4 151396790 . C T 81.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=162.75;QD=32.55;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2242C>T;refseq.codingCoordStr_2=c.2239C>T;refseq.codonCoord_1=748;refseq.codonCoord_2=747;refseq.end_1=151396790;refseq.end_2=151396790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2342;refseq.mrnaCoord_2=2339;refseq.name2_1=DCLK2;refseq.name2_2=DCLK2;refseq.name_1=NM_001040260;refseq.name_2=NM_001040261;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P748S;refseq.proteinCoordStr_2=p.P747S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=169;refseq.spliceDist_2=169;refseq.start_1=151396790;refseq.start_2=151396790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=filterInsoap-gatk GT 1/1 chr4 151396791 . C G 120.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=101.53;QD=33.84;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2243C>G;refseq.codingCoordStr_2=c.2240C>G;refseq.codonCoord_1=748;refseq.codonCoord_2=747;refseq.end_1=151396791;refseq.end_2=151396791;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2343;refseq.mrnaCoord_2=2340;refseq.name2_1=DCLK2;refseq.name2_2=DCLK2;refseq.name_1=NM_001040260;refseq.name_2=NM_001040261;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P748R;refseq.proteinCoordStr_2=p.P747R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=170;refseq.spliceDist_2=170;refseq.start_1=151396791;refseq.start_2=151396791;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=filterInsoap-gatk GT 1/1 chr4 151418530 . G A 189.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=3.19;MQ=98.77;MQ0=0;OQ=1868.50;QD=15.83;RankSumP=0.0438725;SB=-754.60;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.8426C>T;refseq.codonCoord=2809;refseq.end=151418530;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8900;refseq.name=NM_006726;refseq.name2=LRBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2809L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-76;refseq.start=151418530;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr4 151426577 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.99;MQ0=0;OQ=1107.60;QD=10.97;RankSumP=0.0178172;SB=-549.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.8110G>A;refseq.codonCoord=2704;refseq.end=151426577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8584;refseq.name=NM_006726;refseq.name2=LRBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2704T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-43;refseq.start=151426577;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 151456204 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.7685A>C;refseq.codonCoord=2562;refseq.end=151456204;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8159;refseq.name=NM_006726;refseq.name2=LRBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2562A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=22;refseq.start=151456204;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr4 151957790 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=519;Dels=0.00;HRun=0;HaplotypeScore=18.86;MQ=98.76;MQ0=0;OQ=10793.04;QD=20.80;RankSumP=0.000136273;SB=-3898.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.5241T>C;refseq.codonCoord=1747;refseq.end=151957790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5715;refseq.name=NM_006726;refseq.name2=LRBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1747N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-65;refseq.start=151957790;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 0/1 chr4 152155131 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=114;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=98.23;MQ0=0;OQ=1313.43;QD=11.52;RankSumP=0.464893;SB=-368.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.114G>T;refseq.codonCoord=38;refseq.end=152155131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_006726;refseq.name2=LRBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G38G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-103;refseq.start=152155131;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr4 152315630 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=196;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=98.48;MQ0=0;OQ=4027.09;QD=20.55;RankSumP=0.271010;SB=-807.78;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.336A>G;refseq.codingCoordStr_2=c.336A>G;refseq.codingCoordStr_3=c.336A>G;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=152315630;refseq.end_2=152315630;refseq.end_3=152315630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1426;refseq.mrnaCoord_2=1414;refseq.mrnaCoord_3=525;refseq.name2_1=SH3D19;refseq.name2_2=SH3D19;refseq.name2_3=SH3D19;refseq.name_1=NM_001009555;refseq.name_2=NM_001128923;refseq.name_3=NM_001128924;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I112M;refseq.proteinCoordStr_2=p.I112M;refseq.proteinCoordStr_3=p.I112M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-359;refseq.spliceDist_2=-359;refseq.spliceDist_3=-359;refseq.start_1=152315630;refseq.start_2=152315630;refseq.start_3=152315630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr4 153910292 . T C 358.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.95;MQ0=0;OQ=9340.94;QD=37.51;RankSumP=1.00000;SB=-3740.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1315A>G;refseq.codonCoord=439;refseq.end=153910292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2097;refseq.name=NM_145720;refseq.name2=TIGD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I439V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-337;refseq.start=153910292;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr4 154115808 . C T 285.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.66;MQ0=0;OQ=2558.09;QD=37.62;RankSumP=1.00000;SB=-943.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1915C>T;refseq.codonCoord=639;refseq.end=154115808;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_033393;refseq.name2=FHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R639C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=532;refseq.start=154115808;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr4 154117220 . G A 260.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=94.69;MQ0=0;OQ=784.72;QD=39.24;RankSumP=1.00000;SB=-407.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.3327G>A;refseq.codonCoord=1109;refseq.end=154117220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3402;refseq.name=NM_033393;refseq.name2=FHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1109T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1944;refseq.start=154117220;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr4 154436160 . G A 177.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=98.70;MQ0=0;OQ=2024.84;QD=15.58;RankSumP=0.428714;SB=-702.65;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.951G>A;refseq.codingCoordStr_2=c.1032G>A;refseq.codonCoord_1=317;refseq.codonCoord_2=344;refseq.end_1=154436160;refseq.end_2=154436160;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1152;refseq.mrnaCoord_2=1117;refseq.name2_1=TRIM2;refseq.name2_2=TRIM2;refseq.name_1=NM_001130067;refseq.name_2=NM_015271;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T317T;refseq.proteinCoordStr_2=p.T344T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=246;refseq.spliceDist_2=246;refseq.start_1=154436160;refseq.start_2=154436160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr4 154733077 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=11.35;MQ=98.33;MQ0=0;OQ=2440.65;QD=14.79;RankSumP=0.385280;SB=-173.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1813A>G;refseq.codingCoordStr_2=c.1810A>G;refseq.codonCoord_1=605;refseq.codonCoord_2=604;refseq.end_1=154733077;refseq.end_2=154733077;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1865;refseq.mrnaCoord_2=1862;refseq.name2_1=KIAA0922;refseq.name2_2=KIAA0922;refseq.name_1=NM_001131007;refseq.name_2=NM_015196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I605V;refseq.proteinCoordStr_2=p.I604V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=154733077;refseq.start_2=154733077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr4 154733172 . C T 321.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=98.74;MQ0=0;OQ=5225.22;QD=19.00;RankSumP=0.342548;SB=-1233.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1908C>T;refseq.codingCoordStr_2=c.1905C>T;refseq.codonCoord_1=636;refseq.codonCoord_2=635;refseq.end_1=154733172;refseq.end_2=154733172;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1960;refseq.mrnaCoord_2=1957;refseq.name2_1=KIAA0922;refseq.name2_2=KIAA0922;refseq.name_1=NM_001131007;refseq.name_2=NM_015196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H636H;refseq.proteinCoordStr_2=p.H635H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=154733172;refseq.start_2=154733172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr4 154734415 . T C 268.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=2890.32;QD=17.62;RankSumP=0.463152;SB=-1150.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1937T>C;refseq.codingCoordStr_2=c.1934T>C;refseq.codonCoord_1=646;refseq.codonCoord_2=645;refseq.end_1=154734415;refseq.end_2=154734415;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1989;refseq.mrnaCoord_2=1986;refseq.name2_1=KIAA0922;refseq.name2_2=KIAA0922;refseq.name_1=NM_001131007;refseq.name_2=NM_015196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M646T;refseq.proteinCoordStr_2=p.M645T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=154734415;refseq.start_2=154734415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr4 154739214 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=344;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=98.71;MQ0=0;OQ=5890.82;QD=17.12;RankSumP=0.455321;SB=-2387.83;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2146A>G;refseq.codingCoordStr_2=c.2143A>G;refseq.codonCoord_1=716;refseq.codonCoord_2=715;refseq.end_1=154739214;refseq.end_2=154739214;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2198;refseq.mrnaCoord_2=2195;refseq.name2_1=KIAA0922;refseq.name2_2=KIAA0922;refseq.name_1=NM_001131007;refseq.name_2=NM_015196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M716V;refseq.proteinCoordStr_2=p.M715V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=154739214;refseq.start_2=154739214;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr4 154762453 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3859+2;refseq.codingCoordStr_2=c.3856+2;refseq.end_1=154762453;refseq.end_2=154762453;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=KIAA0922;refseq.name2_2=KIAA0922;refseq.name_1=NM_001131007;refseq.name_2=NM_015196;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=154762453;refseq.start_2=154762453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr4 154843532 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.23T>G;refseq.codonCoord=8;refseq.end=154843532;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_003264;refseq.name2=TLR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V8G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=39;refseq.start=154843532;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr4 154844106 . T C 286.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.95;MQ0=0;OQ=10813.25;QD=37.81;RankSumP=1.00000;SB=-4522.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.597T>C;refseq.codonCoord=199;refseq.end=154844106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_003264;refseq.name2=TLR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N199N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=613;refseq.start=154844106;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr4 154929306 . A C 177.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=98.95;MQ0=0;OQ=3864.94;QD=33.90;RankSumP=1.00000;SB=-1782.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.132T>G;refseq.codonCoord=44;refseq.end=154929306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_003013;refseq.name2=SFRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-371;refseq.start=154929306;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr4 155375657 . G A 433.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=5661.78;QD=41.33;RankSumP=1.00000;SB=-2314.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.8232C>T;refseq.codonCoord=2744;refseq.end=155375657;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8232;refseq.name=NM_017639;refseq.name2=DCHS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2744D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-681;refseq.start=155375657;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 155461022 . G A 110.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=648;Dels=0.00;HRun=1;HaplotypeScore=5.09;MQ=98.85;MQ0=0;OQ=12824.67;QD=19.79;RankSumP=0.0619953;SB=-3103.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.3614C>T;refseq.codonCoord=1205;refseq.end=155461022;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3614;refseq.name=NM_017639;refseq.name2=DCHS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1205L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-42;refseq.start=155461022;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr4 155463023 . C T 386.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=3.40;MQ=98.77;MQ0=0;OQ=8891.83;QD=42.34;RankSumP=1.00000;SB=-2902.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2721G>A;refseq.codonCoord=907;refseq.end=155463023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2721;refseq.name=NM_017639;refseq.name2=DCHS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S907S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=68;refseq.start=155463023;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr4 155463054 . T C 456.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.81;MQ0=0;OQ=7304.95;QD=41.04;RankSumP=1.00000;SB=-2291.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2690A>G;refseq.codonCoord=897;refseq.end=155463054;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2690;refseq.name=NM_017639;refseq.name2=DCHS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N897S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=37;refseq.start=155463054;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr4 155468793 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3920T>G;refseq.codingCoordStr_2=c.2555T>G;refseq.codonCoord_1=1307;refseq.codonCoord_2=852;refseq.end_1=155468793;refseq.end_2=155468793;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4290;refseq.mrnaCoord_2=2555;refseq.name2_1=DCHS2;refseq.name2_2=DCHS2;refseq.name_1=NM_001142552;refseq.name_2=NM_017639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1307G;refseq.proteinCoordStr_2=p.V852G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=155468793;refseq.start_2=155468793;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr4 155475655 . G A 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=98.79;MQ0=0;OQ=5796.86;QD=41.70;RankSumP=1.00000;SB=-1811.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2528C>T;refseq.codingCoordStr_2=c.1031C>T;refseq.codonCoord_1=843;refseq.codonCoord_2=344;refseq.end_1=155475655;refseq.end_2=155475655;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2898;refseq.mrnaCoord_2=1031;refseq.name2_1=DCHS2;refseq.name2_2=DCHS2;refseq.name_1=NM_001142552;refseq.name_2=NM_017639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S843L;refseq.proteinCoordStr_2=p.S344L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=155475655;refseq.start_2=155475655;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr4 155506985 . T C 439.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.81;MQ0=0;OQ=5582.90;QD=37.72;RankSumP=1.00000;SB=-2272.26;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2303A>G;refseq.codingCoordStr_2=c.521A>G;refseq.codonCoord_1=768;refseq.codonCoord_2=174;refseq.end_1=155506985;refseq.end_2=155506985;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2673;refseq.mrnaCoord_2=521;refseq.name2_1=DCHS2;refseq.name2_2=DCHS2;refseq.name_1=NM_001142552;refseq.name_2=NM_017639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H768R;refseq.proteinCoordStr_2=p.H174R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=155506985;refseq.start_2=155506985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr4 155514526 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=19.30;MQ=97.75;MQ0=0;OQ=8328.37;QD=38.92;RankSumP=1.00000;SB=-4060.58;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.458T>C;refseq.codonCoord_2=153;refseq.end_1=155517844;refseq.end_2=155514526;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=458;refseq.name2_1=DCHS2;refseq.name2_2=DCHS2;refseq.name_1=NM_001142552;refseq.name_2=NM_017639;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V153A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=155507054;refseq.start_2=155514526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr4 155687638 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.288T>G;refseq.codonCoord=96;refseq.end=155687638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_002669;refseq.name2=PLRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-26;refseq.start=155687638;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 155708271 . C T 317.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.97;MQ0=0;OQ=5563.57;QD=17.39;RankSumP=0.449526;SB=-2287.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.567C>T;refseq.codonCoord=189;refseq.end=155708271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=606;refseq.name=NM_005141;refseq.name2=FGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S189S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=77;refseq.start=155708271;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr4 155710282 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=25.05;MQ=98.43;MQ0=0;OQ=2913.88;QD=10.63;RankSumP=0.0724086;SB=-337.75;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1125C>T;refseq.codonCoord=375;refseq.end=155710282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_005141;refseq.name2=FGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y375Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-120;refseq.start=155710282;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr4 155710289 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1132A>C;refseq.codonCoord=378;refseq.end=155710289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_005141;refseq.name2=FGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T378P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-113;refseq.start=155710289;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr4 155710403 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr4;refseq.codingCoordStr=c.1244+2;refseq.end=155710403;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005141;refseq.name2=FGB;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=155710403;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr4 155711209 . G A 212.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.97;MQ0=0;OQ=3105.00;QD=19.53;RankSumP=0.485407;SB=-1033.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1433G>A;refseq.codonCoord=478;refseq.end=155711209;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_005141;refseq.name2=FGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R478K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=189;refseq.start=155711209;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr4 155939724 . T C 279.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=12.97;MQ=98.87;MQ0=0;OQ=2703.68;QD=18.27;RankSumP=0.435679;SB=-1133.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.960T>C;refseq.codonCoord=320;refseq.end=155939724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_144979;refseq.name2=RBM46;refseq.positionType=CDS;refseq.proteinCoordStr=p.N320N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=341;refseq.start=155939724;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr4 156355054 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.513G>T;refseq.codonCoord=171;refseq.end=156355054;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_000910;refseq.name2=NPY2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L171F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=561;refseq.start=156355054;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr4 156355126 . C T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=496;Dels=0.00;HRun=1;HaplotypeScore=17.10;MQ=98.93;MQ0=0;OQ=20909.78;QD=42.16;RankSumP=1.00000;SB=-6312.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.585C>T;refseq.codonCoord=195;refseq.end=156355126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_000910;refseq.name2=NPY2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I195I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=633;refseq.start=156355126;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr4 156355477 . C T 97.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=10.09;MQ=98.70;MQ0=0;OQ=13656.68;QD=40.64;RankSumP=1.00000;SB=-4247.11;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.936C>T;refseq.codonCoord=312;refseq.end=156355477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_000910;refseq.name2=NPY2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I312I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=984;refseq.start=156355477;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr4 156493218 . T C 367.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.70;MQ0=0;OQ=3639.77;QD=41.84;RankSumP=1.00000;SB=-760.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1801A>G;refseq.codonCoord=601;refseq.end=156493218;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2065;refseq.name=NM_001039580;refseq.name2=MAP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N601D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-21;refseq.start=156493218;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr4 156493827 . T C 130.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=11.35;MQ=98.86;MQ0=0;OQ=10260.97;QD=40.24;RankSumP=1.00000;SB=-4441.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1496A>G;refseq.codonCoord=499;refseq.end=156493827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1760;refseq.name=NM_001039580;refseq.name2=MAP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K499R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-47;refseq.start=156493827;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 156495739 . C T 333.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1281.82;QD=40.06;RankSumP=1.00000;SB=-267.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1314G>A;refseq.codonCoord=438;refseq.end=156495739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_001039580;refseq.name2=MAP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V438V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=24;refseq.start=156495739;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr4 156851841 . A G 343.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=98.83;MQ0=0;OQ=14202.47;QD=40.93;RankSumP=1.00000;SB=-3874.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.chr_4=chr4;refseq.chr_5=chr4;refseq.chr_6=chr4;refseq.chr_7=chr4;refseq.codingCoordStr_1=c.1074A>G;refseq.codingCoordStr_2=c.1074A>G;refseq.codingCoordStr_3=c.1074A>G;refseq.codingCoordStr_4=c.1074A>G;refseq.codingCoordStr_5=c.369A>G;refseq.codingCoordStr_6=c.1074A>G;refseq.codingCoordStr_7=c.1074A>G;refseq.codonCoord_1=358;refseq.codonCoord_2=358;refseq.codonCoord_3=358;refseq.codonCoord_4=358;refseq.codonCoord_5=123;refseq.codonCoord_6=358;refseq.codonCoord_7=358;refseq.end_1=156851841;refseq.end_2=156851841;refseq.end_3=156851841;refseq.end_4=156851841;refseq.end_5=156851841;refseq.end_6=156851841;refseq.end_7=156851841;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1610;refseq.mrnaCoord_2=1516;refseq.mrnaCoord_3=1484;refseq.mrnaCoord_4=1456;refseq.mrnaCoord_5=1305;refseq.mrnaCoord_6=1516;refseq.mrnaCoord_7=1516;refseq.name2_1=GUCY1A3;refseq.name2_2=GUCY1A3;refseq.name2_3=GUCY1A3;refseq.name2_4=GUCY1A3;refseq.name2_5=GUCY1A3;refseq.name2_6=GUCY1A3;refseq.name2_7=GUCY1A3;refseq.name_1=NM_000856;refseq.name_2=NM_001130682;refseq.name_3=NM_001130683;refseq.name_4=NM_001130684;refseq.name_5=NM_001130685;refseq.name_6=NM_001130686;refseq.name_7=NM_001130687;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.K358K;refseq.proteinCoordStr_2=p.K358K;refseq.proteinCoordStr_3=p.K358K;refseq.proteinCoordStr_4=p.K358K;refseq.proteinCoordStr_5=p.K123K;refseq.proteinCoordStr_6=p.K358K;refseq.proteinCoordStr_7=p.K358K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceAA_7=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.referenceCodon_6=AAA;refseq.referenceCodon_7=AAA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.spliceDist_5=-13;refseq.spliceDist_6=-143;refseq.spliceDist_7=-13;refseq.start_1=156851841;refseq.start_2=156851841;refseq.start_3=156851841;refseq.start_4=156851841;refseq.start_5=156851841;refseq.start_6=156851841;refseq.start_7=156851841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantAA_7=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;refseq.variantCodon_5=AAG;refseq.variantCodon_6=AAG;refseq.variantCodon_7=AAG;set=Intersection GT 1/1 chr4 157006790 . G A 233.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=10.85;MQ=98.83;MQ0=0;OQ=12502.79;QD=42.53;RankSumP=1.00000;SB=-4439.70;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.39C>T;refseq.codonCoord=13;refseq.end=157006790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=86;refseq.name=NM_017419;refseq.name2=ACCN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N13N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=157006790;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr4 158284488 . T C 293.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=6.71;MQ=98.79;MQ0=0;OQ=10566.92;QD=39.28;RankSumP=1.00000;SB=-2551.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.831T>C;refseq.codingCoordStr_2=c.831T>C;refseq.codingCoordStr_3=c.831T>C;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.codonCoord_3=277;refseq.end_1=158284488;refseq.end_2=158284488;refseq.end_3=158284488;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1033;refseq.mrnaCoord_2=1016;refseq.mrnaCoord_3=1033;refseq.name2_1=GLRB;refseq.name2_2=GLRB;refseq.name2_3=GLRB;refseq.name_1=NM_000824;refseq.name_2=NM_001166060;refseq.name_3=NM_001166061;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T277T;refseq.proteinCoordStr_2=p.T277T;refseq.proteinCoordStr_3=p.T277T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=158284488;refseq.start_2=158284488;refseq.start_3=158284488;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr4 158458280 . T C 210.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1004.72;QD=18.27;RankSumP=0.732726;SB=-444.26;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.687T>C;refseq.codingCoordStr_2=c.687T>C;refseq.codingCoordStr_3=c.546T>C;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.codonCoord_3=182;refseq.end_1=158458280;refseq.end_2=158458280;refseq.end_3=158458280;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1146;refseq.mrnaCoord_2=1146;refseq.mrnaCoord_3=657;refseq.name2_1=GRIA2;refseq.name2_2=GRIA2;refseq.name2_3=GRIA2;refseq.name_1=NM_000826;refseq.name_2=NM_001083619;refseq.name_3=NM_001083620;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H229H;refseq.proteinCoordStr_2=p.H229H;refseq.proteinCoordStr_3=p.H182H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=158458280;refseq.start_2=158458280;refseq.start_3=158458280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr4 159296276 . C T 204.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=12.40;MQ=98.92;MQ0=0;OQ=14204.77;QD=42.79;RankSumP=1.00000;SB=-5667.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1086G>A;refseq.codingCoordStr_2=c.1062G>A;refseq.codingCoordStr_3=c.1062G>A;refseq.codonCoord_1=362;refseq.codonCoord_2=354;refseq.codonCoord_3=354;refseq.end_1=159296276;refseq.end_2=159296276;refseq.end_3=159296276;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1493;refseq.mrnaCoord_2=1469;refseq.mrnaCoord_3=1514;refseq.name2_1=FAM198B;refseq.name2_2=FAM198B;refseq.name2_3=FAM198B;refseq.name_1=NM_001031700;refseq.name_2=NM_001128424;refseq.name_3=NM_016613;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S362S;refseq.proteinCoordStr_2=p.S354S;refseq.proteinCoordStr_3=p.S354S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=159296276;refseq.start_2=159296276;refseq.start_3=159296276;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/1 chr4 159821126 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=13.19;MQ=98.85;MQ0=0;OQ=2487.54;QD=12.56;RankSumP=0.340452;SB=-514.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.92C>T;refseq.codonCoord=31;refseq.end=159821126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_004453;refseq.name2=ETFDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=58;refseq.start=159821126;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr4 159821158 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=1.94440e-08;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.124A>C;refseq.codonCoord=42;refseq.end=159821158;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_004453;refseq.name2=ETFDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.I42L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-52;refseq.start=159821158;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 0/1 chr4 159851441 . G T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3160.22;QD=39.02;RankSumP=1.00000;SB=-763.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.904C>A;refseq.codonCoord=302;refseq.end=159851441;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_005038;refseq.name2=PPID;refseq.positionType=CDS;refseq.proteinCoordStr=p.L302I;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=159851441;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr4 160496726 . C T 277.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=6044.11;QD=43.80;RankSumP=1.00000;SB=-1942.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.4440C>T;refseq.codonCoord=1480;refseq.end=160496726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4750;refseq.name=NM_014247;refseq.name2=RAPGEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1480P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-35;refseq.start=160496726;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr4 162526478 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.2412G>T;refseq.codingCoordStr_2=c.2385G>T;refseq.codingCoordStr_3=c.2415G>T;refseq.codonCoord_1=804;refseq.codonCoord_2=795;refseq.codonCoord_3=805;refseq.end_1=162526478;refseq.end_2=162526478;refseq.end_3=162526478;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2848;refseq.mrnaCoord_2=2821;refseq.mrnaCoord_3=2851;refseq.name2_1=FSTL5;refseq.name2_2=FSTL5;refseq.name2_3=FSTL5;refseq.name_1=NM_001128427;refseq.name_2=NM_001128428;refseq.name_3=NM_020116;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L804F;refseq.proteinCoordStr_2=p.L795F;refseq.proteinCoordStr_3=p.L805F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=574;refseq.spliceDist_2=574;refseq.spliceDist_3=574;refseq.start_1=162526478;refseq.start_2=162526478;refseq.start_3=162526478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr4 162526510 . G T 110.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=613;Dels=0.00;HRun=0;HaplotypeScore=11.85;MQ=98.83;MQ0=0;OQ=11998.71;QD=19.57;RankSumP=0.231572;SB=-4859.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.2380C>A;refseq.codingCoordStr_2=c.2353C>A;refseq.codingCoordStr_3=c.2383C>A;refseq.codonCoord_1=794;refseq.codonCoord_2=785;refseq.codonCoord_3=795;refseq.end_1=162526510;refseq.end_2=162526510;refseq.end_3=162526510;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2816;refseq.mrnaCoord_2=2789;refseq.mrnaCoord_3=2819;refseq.name2_1=FSTL5;refseq.name2_2=FSTL5;refseq.name2_3=FSTL5;refseq.name_1=NM_001128427;refseq.name_2=NM_001128428;refseq.name_3=NM_020116;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R794R;refseq.proteinCoordStr_2=p.R785R;refseq.proteinCoordStr_3=p.R795R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=542;refseq.spliceDist_2=542;refseq.spliceDist_3=542;refseq.start_1=162526510;refseq.start_2=162526510;refseq.start_3=162526510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 0/1 chr4 164304875 . T C 423.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=4083.05;QD=41.66;RankSumP=1.00000;SB=-1597.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.484A>G;refseq.codingCoordStr_2=c.484A>G;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=164304875;refseq.end_2=164304875;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=678;refseq.mrnaCoord_2=678;refseq.name2_1=NAF1;refseq.name2_2=NAF1;refseq.name_1=NM_001128931;refseq.name_2=NM_138386;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I162V;refseq.proteinCoordStr_2=p.I162V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=164304875;refseq.start_2=164304875;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr4 164307138 . C G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.0179820;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.192G>C;refseq.codingCoordStr_2=c.192G>C;refseq.codonCoord_1=64;refseq.codonCoord_2=64;refseq.end_1=164307138;refseq.end_2=164307138;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=386;refseq.mrnaCoord_2=386;refseq.name2_1=NAF1;refseq.name2_2=NAF1;refseq.name_1=NM_001128931;refseq.name_2=NM_138386;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E64D;refseq.proteinCoordStr_2=p.E64D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-174;refseq.spliceDist_2=-174;refseq.start_1=164307138;refseq.start_2=164307138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=soap GT 1/0 chr4 164307139 . T G 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.506394;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.191A>C;refseq.codingCoordStr_2=c.191A>C;refseq.codonCoord_1=64;refseq.codonCoord_2=64;refseq.end_1=164307139;refseq.end_2=164307139;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=385;refseq.mrnaCoord_2=385;refseq.name2_1=NAF1;refseq.name2_2=NAF1;refseq.name_1=NM_001128931;refseq.name_2=NM_138386;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E64A;refseq.proteinCoordStr_2=p.E64A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-175;refseq.spliceDist_2=-175;refseq.start_1=164307139;refseq.start_2=164307139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/0 chr4 164612485 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=3.29182e-09;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1852G>C;refseq.codonCoord=618;refseq.end=164612485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2013;refseq.name=NM_032136;refseq.name2=TKTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A618P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-789;refseq.start=164612485;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr4 164654715 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=98.90;MQ0=0;OQ=4853.95;QD=18.25;RankSumP=0.483040;SB=-1890.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.194A>C;refseq.codonCoord=65;refseq.end=164654715;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_018352;refseq.name2=C4orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q65P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=40;refseq.start=164654715;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr4 164660031 . T C 196.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=1117.89;QD=19.27;RankSumP=0.463033;SB=-298.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.527T>C;refseq.codonCoord=176;refseq.end=164660031;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_018352;refseq.name2=C4orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.I176T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=96;refseq.start=164660031;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr4 164686274 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=496;Dels=0.00;HRun=1;HaplotypeScore=11.54;MQ=98.77;MQ0=0;OQ=9175.26;QD=18.50;RankSumP=0.179219;SB=-3768.30;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.495G>A;refseq.codingCoordStr_2=c.444G>A;refseq.codonCoord_1=165;refseq.codonCoord_2=148;refseq.end_1=164686274;refseq.end_2=164686274;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=677;refseq.mrnaCoord_2=564;refseq.name2_1=MARCH1;refseq.name2_2=MARCH1;refseq.name_1=NM_001166373;refseq.name_2=NM_017923;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A165A;refseq.proteinCoordStr_2=p.A148A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=164686274;refseq.start_2=164686274;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr4 165338102 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=2;HaplotypeScore=4.80;MQ=97.80;MQ0=0;OQ=10461.19;QD=43.23;RankSumP=1.00000;SB=-4258.94;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.212G>A;refseq.codonCoord_2=71;refseq.end_1=165523778;refseq.end_2=165338102;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=212;refseq.name2_1=MARCH1;refseq.name2_2=ANP32C;refseq.name_1=NM_001166373;refseq.name_2=NM_012403;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R71K;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGA;refseq.spliceDist_2=212;refseq.start_1=165252275;refseq.start_2=165338102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr4 165338246 . G A 197.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.65;MQ=71.98;MQ0=14;OQ=5247.92;QD=33.86;RankSumP=1.00000;SB=-2434.23;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.68C>T;refseq.codonCoord_2=23;refseq.end_1=165523778;refseq.end_2=165338246;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=68;refseq.name2_1=MARCH1;refseq.name2_2=ANP32C;refseq.name_1=NM_001166373;refseq.name_2=NM_012403;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A23V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=68;refseq.start_1=165252275;refseq.start_2=165338246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr4 166097785 . A G 45.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=99.00;MQ0=0;QD=2.17;RankSumP=0.284945;SB=-43.66;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.161A>G;refseq.codonCoord_2=54;refseq.end_1=166110069;refseq.end_2=166097785;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=236;refseq.name2_1=TRIM61;refseq.name2_2=C4orf39;refseq.name_1=NM_001012414;refseq.name_2=NM_153027;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H54R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=236;refseq.start_1=166095709;refseq.start_2=166097785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=soap-filterIngatk GT 0/1 chr4 166098059 . T A 199.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=91.48;MQ0=0;OQ=2899.79;QD=15.59;RankSumP=0.254665;SB=-1265.74;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.435T>A;refseq.codonCoord_2=145;refseq.end_1=166110069;refseq.end_2=166098059;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=510;refseq.name2_1=TRIM61;refseq.name2_2=C4orf39;refseq.name_1=NM_001012414;refseq.name_2=NM_153027;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S145S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=510;refseq.start_1=166095709;refseq.start_2=166098059;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr4 166110443 . G A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=4;RankSumP=0.637185;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.162C>T;refseq.codonCoord=54;refseq.end=166110443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_001012414;refseq.name2=TRIM61;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-364;refseq.start=166110443;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 1/0 chr4 166110604 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.265456;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1A>G;refseq.codonCoord=1;refseq.end=166110604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_001012414;refseq.name2=TRIM61;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=338;refseq.start=166110604;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr4 166451318 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.71;MQ0=0;OQ=1943.30;QD=15.67;RankSumP=0.309904;SB=2.04;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_1=c.1215A>G;refseq.codingCoordStr_2=c.939A>G;refseq.codingCoordStr_3=c.1203A>G;refseq.codonCoord_1=405;refseq.codonCoord_2=313;refseq.codonCoord_3=401;refseq.end_1=166451318;refseq.end_2=166451318;refseq.end_3=166451318;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1339;refseq.mrnaCoord_2=1232;refseq.mrnaCoord_3=1462;refseq.name2_1=KLHL2;refseq.name2_2=KLHL2;refseq.name2_3=KLHL2;refseq.name_1=NM_001161521;refseq.name_2=NM_001161522;refseq.name_3=NM_007246;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L405L;refseq.proteinCoordStr_2=p.L313L;refseq.proteinCoordStr_3=p.L401L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.start_1=166451318;refseq.start_2=166451318;refseq.start_3=166451318;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 0/1 chr4 167206306 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=5.40366e-06;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.2029G>T;refseq.codonCoord=677;refseq.end=167206306;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_012464;refseq.name2=TLL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E677*;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=22;refseq.start=167206306;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 0/1 chr4 167231831 . G A 326.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=3.71;MQ=98.60;MQ0=0;OQ=11734.68;QD=41.32;RankSumP=1.00000;SB=-4629.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2544G>A;refseq.codonCoord=848;refseq.end=167231831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3191;refseq.name=NM_012464;refseq.name2=TLL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L848L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=102;refseq.start=167231831;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr4 167231930 . T C 339.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.32;MQ0=0;OQ=5623.84;QD=40.75;RankSumP=1.00000;SB=-1865.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.2643T>C;refseq.codonCoord=881;refseq.end=167231930;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3290;refseq.name=NM_012464;refseq.name2=TLL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A881A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-14;refseq.start=167231930;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr4 169669248 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.85;MQ0=0;OQ=10108.47;QD=22.77;RankSumP=0.114782;SB=-4160.70;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.18C>T;refseq.codingCoordStr_2=c.18C>T;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=169669248;refseq.end_2=169669248;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=229;refseq.mrnaCoord_2=229;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S6S;refseq.proteinCoordStr_2=p.S6S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=169669248;refseq.start_2=169669248;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr4 169669416 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=4;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=1324.21;QD=15.05;RankSumP=0.282258;SB=-587.49;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.186G>A;refseq.codingCoordStr_2=c.186G>A;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=169669416;refseq.end_2=169669416;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=397;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K62K;refseq.proteinCoordStr_2=p.K62K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=268;refseq.spliceDist_2=268;refseq.start_1=169669416;refseq.start_2=169669416;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr4 169669593 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.363A>C;refseq.codingCoordStr_2=c.363A>C;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=169669593;refseq.end_2=169669593;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=574;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K121N;refseq.proteinCoordStr_2=p.K121N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=445;refseq.spliceDist_2=445;refseq.start_1=169669593;refseq.start_2=169669593;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr4 169669901 rs41314877 T C 1168.89 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=95.84;MQ0=0;QD=11.69;SB=-554.84;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.671T>C;refseq.codingCoordStr_2=c.671T>C;refseq.codonCoord_1=224;refseq.codonCoord_2=224;refseq.end_1=169669901;refseq.end_2=169669901;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=882;refseq.mrnaCoord_2=882;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M224T;refseq.proteinCoordStr_2=p.M224T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-238;refseq.spliceDist_2=-238;refseq.start_1=169669901;refseq.start_2=169669901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:56,44:87:-146.37,-26.20,-211.32:99 chr4 169669902 . G A 1261.56 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=95.99;MQ0=0;QD=12.01;RankSumP=0.241821;SB=-644.55;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.672G>A;refseq.codingCoordStr_2=c.672G>A;refseq.codonCoord_1=224;refseq.codonCoord_2=224;refseq.end_1=169669902;refseq.end_2=169669902;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=883;refseq.mrnaCoord_2=883;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M224I;refseq.proteinCoordStr_2=p.M224I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-237;refseq.spliceDist_2=-237;refseq.start_1=169669902;refseq.start_2=169669902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=FilteredInAll GT 1/0 chr4 169669908 rs7673220 C T 1059.45 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=95.93;MQ0=0;QD=10.29;SB=-541.99;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.678C>T;refseq.codingCoordStr_2=c.678C>T;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=169669908;refseq.end_2=169669908;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=889;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D226D;refseq.proteinCoordStr_2=p.D226D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-231;refseq.spliceDist_2=-231;refseq.start_1=169669908;refseq.start_2=169669908;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:61,42:87:-135.43,-26.20,-213.67:99 chr4 169670019 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.86;MQ0=0;OQ=2045.08;QD=15.98;RankSumP=0.102192;SB=-853.85;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.789C>T;refseq.codingCoordStr_2=c.789C>T;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.end_1=169670019;refseq.end_2=169670019;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=1000;refseq.name2_1=PALLD;refseq.name2_2=PALLD;refseq.name_1=NM_001166108;refseq.name_2=NM_016081;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S263S;refseq.proteinCoordStr_2=p.S263S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=169670019;refseq.start_2=169670019;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr4 170165417 . G T 428 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4516.77;QD=39.97;RankSumP=1.00000;SB=-1539.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.208C>A;refseq.codonCoord=70;refseq.end=170165417;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_032783;refseq.name2=CBR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L70M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-56;refseq.start=170165417;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr4 170314364 . A G 234.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.44;MQ0=0;OQ=2920.30;QD=16.05;RankSumP=0.468651;SB=-1251.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=170314364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_020870;refseq.name2=SH3RF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y145Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=42;refseq.start=170314364;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr4 170854976 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1079C>G;refseq.codingCoordStr_2=c.1079C>G;refseq.codonCoord_1=360;refseq.codonCoord_2=360;refseq.end_1=170854976;refseq.end_2=170854976;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1588;refseq.mrnaCoord_2=1588;refseq.name2_1=CLCN3;refseq.name2_2=CLCN3;refseq.name_1=NM_001829;refseq.name_2=NM_173872;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A360G;refseq.proteinCoordStr_2=p.A360G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=170854976;refseq.start_2=170854976;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr4 170870983 . A G 240.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=6.25;MQ=98.94;MQ0=0;OQ=5774.09;QD=17.39;RankSumP=0.285977;SB=-2117.47;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2328A>G;refseq.codingCoordStr_2=c.2328A>G;refseq.codonCoord_1=776;refseq.codonCoord_2=776;refseq.end_1=170870983;refseq.end_2=170870983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2837;refseq.mrnaCoord_2=2837;refseq.name2_1=CLCN3;refseq.name2_2=CLCN3;refseq.name_1=NM_001829;refseq.name_2=NM_173872;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R776R;refseq.proteinCoordStr_2=p.R776R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=170870983;refseq.start_2=170870983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr4 170899810 . C T 215.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1442.86;QD=42.44;RankSumP=1.00000;SB=-390.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.521G>A;refseq.codonCoord=174;refseq.end=170899810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_017867;refseq.name2=C4orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R174K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=24;refseq.start=170899810;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr4 171226950 . C T 114.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.87;MQ0=0;OQ=1750.67;QD=14.35;RankSumP=0.477394;SB=-530.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.727G>A;refseq.codingCoordStr_2=c.727G>A;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.end_1=171226950;refseq.end_2=171226950;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1069;refseq.mrnaCoord_2=851;refseq.name2_1=AADAT;refseq.name2_2=AADAT;refseq.name_1=NM_016228;refseq.name_2=NM_182662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V243I;refseq.proteinCoordStr_2=p.V243I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=171226950;refseq.start_2=171226950;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr4 173469380 . G A 242.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=98.95;MQ0=0;OQ=6876.49;QD=18.54;RankSumP=0.461518;SB=-1419.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.288G>A;refseq.codonCoord=96;refseq.end=173469380;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_001034845;refseq.name2=GALNTL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E96E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=41;refseq.start=173469380;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr4 174040534 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=660;Dels=0.00;HRun=2;HaplotypeScore=30.29;MQ=98.26;MQ0=0;OQ=194.97;QD=0.30;RankSumP=0.00000;SB=1094.69;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.942A>G;refseq.codonCoord=314;refseq.end=174040534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_001034845;refseq.name2=GALNTL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G314G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=19;refseq.start=174040534;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr4 175462027 . G A 250.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.34;MQ0=0;OQ=1636.56;QD=16.37;RankSumP=0.178880;SB=-563.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.439G>A;refseq.codingCoordStr_2=c.439G>A;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.end_1=175462027;refseq.end_2=175462027;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=853;refseq.mrnaCoord_2=744;refseq.name2_1=KIAA1712;refseq.name2_2=KIAA1712;refseq.name_1=NM_001040157;refseq.name_2=NM_001145314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G147S;refseq.proteinCoordStr_2=p.G147S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=175462027;refseq.start_2=175462027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr4 175462078 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.490T>G;refseq.codingCoordStr_2=c.490T>G;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.end_1=175462078;refseq.end_2=175462078;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=904;refseq.mrnaCoord_2=795;refseq.name2_1=KIAA1712;refseq.name2_2=KIAA1712;refseq.name_1=NM_001040157;refseq.name_2=NM_001145314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F164V;refseq.proteinCoordStr_2=p.F164V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=175462078;refseq.start_2=175462078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/0 chr4 175473983 . T C 149.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=10.05;MQ=98.54;MQ0=0;OQ=2603.71;QD=17.47;RankSumP=0.255965;SB=-1125.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1053T>C;refseq.codingCoordStr_2=c.1053T>C;refseq.codonCoord_1=351;refseq.codonCoord_2=351;refseq.end_1=175473983;refseq.end_2=175473983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1467;refseq.mrnaCoord_2=1358;refseq.name2_1=KIAA1712;refseq.name2_2=KIAA1712;refseq.name_1=NM_001040157;refseq.name_2=NM_001145314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T351T;refseq.proteinCoordStr_2=p.T351T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=175473983;refseq.start_2=175473983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr4 175834909 . T C 378.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=6546.13;QD=37.41;RankSumP=1.00000;SB=-2611.07;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.822A>G;refseq.codingCoordStr_2=c.822A>G;refseq.codonCoord_1=274;refseq.codonCoord_2=274;refseq.end_1=175834909;refseq.end_2=175834909;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1325;refseq.mrnaCoord_2=1325;refseq.name2_1=GLRA3;refseq.name2_2=GLRA3;refseq.name_1=NM_001042543;refseq.name_2=NM_006529;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S274S;refseq.proteinCoordStr_2=p.S274S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=175834909;refseq.start_2=175834909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr4 175924713 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=692;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.86;MQ0=0;OQ=11737.23;QD=16.96;RankSumP=0.0927133;SB=-4658.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.243T>C;refseq.codingCoordStr_2=c.243T>C;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.end_1=175924713;refseq.end_2=175924713;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=746;refseq.mrnaCoord_2=746;refseq.name2_1=GLRA3;refseq.name2_2=GLRA3;refseq.name_1=NM_001042543;refseq.name_2=NM_006529;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F81F;refseq.proteinCoordStr_2=p.F81F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=175924713;refseq.start_2=175924713;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr4 177254672 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_3=c.8G>T;refseq.codonCoord_3=3;refseq.end_1=177331083;refseq.end_2=177269709;refseq.end_3=177254672;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=311;refseq.name2_1=MIR1267;refseq.name2_2=WDR17;refseq.name2_3=WDR17;refseq.name_1=NR_031671;refseq.name_2=NM_181265;refseq.name_3=NM_170710;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.W3L;refseq.referenceAA_3=Trp;refseq.referenceCodon_3=TGG;refseq.spliceDist_3=-59;refseq.start_1=177196511;refseq.start_2=177224235;refseq.start_3=177254672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=FilteredInAll GT 0/1 chr4 177310020 . G A 249.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=98.63;MQ0=0;OQ=6764.93;QD=41.25;RankSumP=1.00000;SB=-2590.79;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.chr_3=chr4;refseq.codingCoordStr_2=c.2440G>A;refseq.codingCoordStr_3=c.2368G>A;refseq.codonCoord_2=814;refseq.codonCoord_3=790;refseq.end_1=177331083;refseq.end_2=177310020;refseq.end_3=177310020;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2743;refseq.mrnaCoord_3=2620;refseq.name2_1=MIR1267;refseq.name2_2=WDR17;refseq.name2_3=WDR17;refseq.name_1=NR_031671;refseq.name_2=NM_170710;refseq.name_3=NM_181265;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A814T;refseq.proteinCoordStr_3=p.A790T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=177196511;refseq.start_2=177310020;refseq.start_3=177310020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/1 chr4 177332767 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=222;Dels=0.00;HRun=3;HaplotypeScore=23.04;MQ=98.89;MQ0=0;OQ=4101.14;QD=18.47;RankSumP=0.224598;SB=-526.46;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.3470G>A;refseq.codingCoordStr_2=c.3353G>A;refseq.codonCoord_1=1157;refseq.codonCoord_2=1118;refseq.end_1=177332767;refseq.end_2=177332767;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3773;refseq.mrnaCoord_2=3605;refseq.name2_1=WDR17;refseq.name2_2=WDR17;refseq.name_1=NM_170710;refseq.name_2=NM_181265;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1157Q;refseq.proteinCoordStr_2=p.R1118Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=177332767;refseq.start_2=177332767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr4 177350830 . C T 284.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.64;MQ0=0;OQ=9599.17;QD=43.83;RankSumP=1.00000;SB=-4292.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.630G>A;refseq.codonCoord=210;refseq.end=177350830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_144644;refseq.name2=SPATA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A210A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-59;refseq.start=177350830;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr4 177374982 . C T 132.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=1;HaplotypeScore=11.78;MQ=98.95;MQ0=0;OQ=7473.08;QD=20.25;RankSumP=0.221884;SB=-2064.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.843G>A;refseq.codonCoord=281;refseq.end=177374982;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_080874;refseq.name2=ASB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R281R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-20;refseq.start=177374982;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr4 177842078 . A C 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.433256;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1256T>G;refseq.codonCoord=419;refseq.end=177842078;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1686;refseq.name=NM_005429;refseq.name2=VEGFC;refseq.positionType=CDS;refseq.proteinCoordStr=p.M419R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=111;refseq.start=177842078;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chr4 177842080 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.460741;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1254G>A;refseq.codonCoord=418;refseq.end=177842080;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1684;refseq.name=NM_005429;refseq.name2=VEGFC;refseq.positionType=CDS;refseq.proteinCoordStr=p.M418I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=109;refseq.start=177842080;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 0/1 chr4 178511559 . A G 220.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=8305.06;QD=41.73;RankSumP=1.00000;SB=-3203.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1143A>G;refseq.codonCoord=381;refseq.end=178511559;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_018248;refseq.name2=NEIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R381R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=104;refseq.start=178511559;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 178511688 . T G 312.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=97.99;MQ0=0;OQ=9201.70;QD=38.66;RankSumP=1.00000;SB=-3390.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1272T>G;refseq.codonCoord=424;refseq.end=178511688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1389;refseq.name=NM_018248;refseq.name2=NEIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V424V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-189;refseq.start=178511688;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr4 178511744 . C T 303.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=98.34;MQ0=0;OQ=11693.52;QD=41.47;RankSumP=1.00000;SB=-5575.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1328C>T;refseq.codonCoord=443;refseq.end=178511744;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1445;refseq.name=NM_018248;refseq.name2=NEIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P443L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-133;refseq.start=178511744;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr4 178511829 . A C 329.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=97.81;MQ0=0;OQ=9686.58;QD=40.53;RankSumP=1.00000;SB=-4578.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1413A>C;refseq.codonCoord=471;refseq.end=178511829;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_018248;refseq.name2=NEIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q471H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-48;refseq.start=178511829;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr4 178518748 . G A 262.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.21;MQ0=0;OQ=13677.11;QD=42.08;RankSumP=1.00000;SB=-5858.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.1558G>A;refseq.codonCoord=520;refseq.end=178518748;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1675;refseq.name=NM_018248;refseq.name2=NEIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G520R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-78;refseq.start=178518748;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr4 178596954 . G C 95.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.63;MQ0=0;OQ=13236.62;QD=48.66;RankSumP=1.00000;SB=-6577.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.446C>G;refseq.codingCoordStr_2=c.446C>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=178596954;refseq.end_2=178596954;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=574;refseq.name2_1=AGA;refseq.name2_2=AGA;refseq.name_1=NM_000027;refseq.name_2=NM_001171988;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T149S;refseq.proteinCoordStr_2=p.T149S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=178596954;refseq.start_2=178596954;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr4 184052682 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=13.89;MQ=98.87;MQ0=0;OQ=2853.92;QD=13.79;RankSumP=0.312099;SB=-652.08;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.348T>C;refseq.codingCoordStr_2=c.315T>C;refseq.codonCoord_1=116;refseq.codonCoord_2=105;refseq.end_1=184052682;refseq.end_2=184052682;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=512;refseq.mrnaCoord_2=489;refseq.name2_1=DCTD;refseq.name2_2=DCTD;refseq.name_1=NM_001012732;refseq.name_2=NM_001921;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V116V;refseq.proteinCoordStr_2=p.V105V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=184052682;refseq.start_2=184052682;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr4 184073651 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.98T>G;refseq.codingCoordStr_2=c.65T>G;refseq.codonCoord_1=33;refseq.codonCoord_2=22;refseq.end_1=184073651;refseq.end_2=184073651;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=262;refseq.mrnaCoord_2=239;refseq.name2_1=DCTD;refseq.name2_2=DCTD;refseq.name_1=NM_001012732;refseq.name_2=NM_001921;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V33G;refseq.proteinCoordStr_2=p.V22G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=184073651;refseq.start_2=184073651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr4 184663381 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=94.64;MQ0=0;OQ=378.45;QD=10.81;RankSumP=0.590162;SB=-135.10;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.39C>T;refseq.codonCoord=13;refseq.end=184663381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_001564;refseq.name2=ING2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-134;refseq.start=184663381;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr4 184837595 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=21.19;MQ=98.76;MQ0=0;OQ=5116.81;QD=18.14;RankSumP=0.285759;SB=-1850.34;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.927A>G;refseq.codingCoordStr_2=c.927A>G;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=184837595;refseq.end_2=184837595;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1103;refseq.mrnaCoord_2=1103;refseq.name2_1=C4orf41;refseq.name2_2=C4orf41;refseq.name_1=NM_021942;refseq.name_2=NM_199053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A309A;refseq.proteinCoordStr_2=p.A309A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=184837595;refseq.start_2=184837595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr4 184849547 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=98.95;MQ0=0;OQ=5420.08;QD=25.45;RankSumP=0.343389;SB=-2091.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1978G>C;refseq.codingCoordStr_2=c.1978G>C;refseq.codonCoord_1=660;refseq.codonCoord_2=660;refseq.end_1=184849547;refseq.end_2=184849547;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2154;refseq.mrnaCoord_2=2154;refseq.name2_1=C4orf41;refseq.name2_2=C4orf41;refseq.name_1=NM_021942;refseq.name_2=NM_199053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V660L;refseq.proteinCoordStr_2=p.V660L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=184849547;refseq.start_2=184849547;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr4 184855930 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.85;MQ0=0;OQ=4181.06;QD=24.59;RankSumP=0.390584;SB=-630.69;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2799G>C;refseq.codingCoordStr_2=c.2799G>C;refseq.codonCoord_1=933;refseq.codonCoord_2=933;refseq.end_1=184855930;refseq.end_2=184855930;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2975;refseq.mrnaCoord_2=2975;refseq.name2_1=C4orf41;refseq.name2_2=C4orf41;refseq.name_1=NM_021942;refseq.name_2=NM_199053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q933H;refseq.proteinCoordStr_2=p.Q933H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=184855930;refseq.start_2=184855930;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr4 185824159 . A G 312.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.35;MQ0=0;OQ=5645.82;QD=38.94;RankSumP=1.00000;SB=-1613.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.503A>G;refseq.codonCoord=168;refseq.end=185824159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_152683;refseq.name2=CCDC111;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q168R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-54;refseq.start=185824159;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr4 185836483 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.77;MQ0=0;OQ=2255.41;QD=17.62;RankSumP=0.450485;SB=-614.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.948G>A;refseq.codonCoord=316;refseq.end=185836483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1381;refseq.name=NM_152683;refseq.name2=CCDC111;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q316Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-60;refseq.start=185836483;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr4 185852758 . C A 122.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=2;HaplotypeScore=2.56;MQ=98.88;MQ0=0;OQ=5385.70;QD=17.89;RankSumP=0.308862;SB=-1980.62;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*678G>T;refseq.codingCoordStr_2=c.1514C>A;refseq.codonCoord_2=505;refseq.end_1=185852758;refseq.end_2=185852758;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2005;refseq.mrnaCoord_2=1947;refseq.name2_1=MLF1IP;refseq.name2_2=CCDC111;refseq.name_1=NM_024629;refseq.name_2=NM_152683;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T505K;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-545;refseq.spliceDist_2=89;refseq.start_1=185852758;refseq.start_2=185852758;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr4 185852762 . T G 110.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=302;Dels=0.00;HRun=2;HaplotypeScore=2.46;MQ=98.88;MQ0=0;OQ=5399.09;QD=17.88;RankSumP=0.00307871;SB=-2122.82;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.*674A>C;refseq.codingCoordStr_2=c.1518T>G;refseq.codonCoord_2=506;refseq.end_1=185852762;refseq.end_2=185852762;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2001;refseq.mrnaCoord_2=1951;refseq.name2_1=MLF1IP;refseq.name2_2=CCDC111;refseq.name_1=NM_024629;refseq.name_2=NM_152683;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G506G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-549;refseq.spliceDist_2=93;refseq.start_1=185852762;refseq.start_2=185852762;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=filterInsoap-gatk GT 1/0 chr4 185871138 . T C 160.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=97.51;MQ0=0;OQ=2420.26;QD=13.15;RankSumP=0.399941;SB=-775.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.642A>G;refseq.codonCoord=214;refseq.end=185871138;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_024629;refseq.name2=MLF1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I214M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=24;refseq.start=185871138;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr4 185874693 . A G 304.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.87;MQ0=0;OQ=2711.84;QD=18.96;RankSumP=0.126527;SB=-1279.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.470T>C;refseq.codonCoord=157;refseq.end=185874693;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_024629;refseq.name2=MLF1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I157T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=89;refseq.start=185874693;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr4 185887148 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=265;Dels=0.00;HRun=2;HaplotypeScore=17.88;MQ=98.57;MQ0=0;OQ=5575.65;QD=21.04;RankSumP=0.304399;SB=-2254.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.132C>T;refseq.codonCoord=44;refseq.end=185887148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_024629;refseq.name2=MLF1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F44F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=36;refseq.start=185887148;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr4 185892186 . G C 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=13;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=99.00;MQ0=0;OQ=193.35;QD=14.87;RankSumP=0.503497;SB=-104.82;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.25C>G;refseq.codonCoord=9;refseq.end=185892186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=95;refseq.name=NM_024629;refseq.name2=MLF1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-23;refseq.start=185892186;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr4 185923026 . C T 255.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=98.62;MQ0=0;OQ=8521.99;QD=39.64;RankSumP=1.00000;SB=-3089.07;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1407G>A;refseq.codonCoord=469;refseq.end=185923026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1585;refseq.name=NM_001995;refseq.name2=ACSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L469L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-26;refseq.start=185923026;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr4 186531192 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=2;HaplotypeScore=10.57;MQ=98.86;MQ0=0;OQ=8514.70;QD=22.77;RankSumP=0.386739;SB=-2807.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.615G>A;refseq.codonCoord=205;refseq.end=186531192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1427;refseq.name=NM_018409;refseq.name2=LRP2BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G205G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=36;refseq.start=186531192;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr4 186536254 . A G 157.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=98.80;MQ0=0;OQ=6079.21;QD=23.11;RankSumP=0.158036;SB=-1540.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.81T>C;refseq.codonCoord=27;refseq.end=186536254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_018409;refseq.name2=LRP2BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F27F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-26;refseq.start=186536254;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr4 186616365 . G A 335.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=6165.23;QD=40.83;RankSumP=1.00000;SB=-2164.72;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.2259C>T;refseq.codingCoordStr_2=c.2370C>T;refseq.codonCoord_1=753;refseq.codonCoord_2=790;refseq.end_1=186616365;refseq.end_2=186616365;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2335;refseq.mrnaCoord_2=2446;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y753Y;refseq.proteinCoordStr_2=p.Y790Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=186616365;refseq.start_2=186616365;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr4 186616893 . G C 178.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.73;MQ0=0;OQ=5243.45;QD=23.20;RankSumP=0.457619;SB=-2084.28;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1731C>G;refseq.codingCoordStr_2=c.1842C>G;refseq.codonCoord_1=577;refseq.codonCoord_2=614;refseq.end_1=186616893;refseq.end_2=186616893;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1807;refseq.mrnaCoord_2=1918;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I577M;refseq.proteinCoordStr_2=p.I614M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-620;refseq.spliceDist_2=-620;refseq.start_1=186616893;refseq.start_2=186616893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr4 186617237 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.46;MQ0=0;OQ=603.54;QD=17.24;RankSumP=0.375493;SB=-43.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1387T>G;refseq.codingCoordStr_2=c.1498T>G;refseq.codonCoord_1=463;refseq.codonCoord_2=500;refseq.end_1=186617237;refseq.end_2=186617237;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1463;refseq.mrnaCoord_2=1574;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y463D;refseq.proteinCoordStr_2=p.Y500D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-964;refseq.spliceDist_2=-964;refseq.start_1=186617237;refseq.start_2=186617237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 186617509 . G A 224.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=99.00;MQ0=0;OQ=5916.44;QD=21.13;RankSumP=0.230568;SB=-1997.92;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.1115C>T;refseq.codingCoordStr_2=c.1226C>T;refseq.codonCoord_1=372;refseq.codonCoord_2=409;refseq.end_1=186617509;refseq.end_2=186617509;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1191;refseq.mrnaCoord_2=1302;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S372F;refseq.proteinCoordStr_2=p.S409F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=878;refseq.spliceDist_2=878;refseq.start_1=186617509;refseq.start_2=186617509;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr4 186617840 . A T 358.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.94;MQ0=0;OQ=6139.36;QD=20.06;RankSumP=0.210580;SB=-1634.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.784T>A;refseq.codingCoordStr_2=c.895T>A;refseq.codonCoord_1=262;refseq.codonCoord_2=299;refseq.end_1=186617840;refseq.end_2=186617840;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=860;refseq.mrnaCoord_2=971;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L262M;refseq.proteinCoordStr_2=p.L299M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=547;refseq.spliceDist_2=547;refseq.start_1=186617840;refseq.start_2=186617840;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr4 186618109 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=98.74;MQ0=0;OQ=534.09;QD=9.54;RankSumP=0.375355;SB=-33.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.515C>A;refseq.codingCoordStr_2=c.626C>A;refseq.codonCoord_1=172;refseq.codonCoord_2=209;refseq.end_1=186618109;refseq.end_2=186618109;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=591;refseq.mrnaCoord_2=702;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P172Q;refseq.proteinCoordStr_2=p.P209Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=278;refseq.spliceDist_2=278;refseq.start_1=186618109;refseq.start_2=186618109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr4 186618159 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=99.00;MQ0=0;OQ=707.61;QD=10.11;RankSumP=0.296655;SB=-99.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.465C>T;refseq.codingCoordStr_2=c.576C>T;refseq.codonCoord_1=155;refseq.codonCoord_2=192;refseq.end_1=186618159;refseq.end_2=186618159;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=541;refseq.mrnaCoord_2=652;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D155D;refseq.proteinCoordStr_2=p.D192D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=228;refseq.spliceDist_2=228;refseq.start_1=186618159;refseq.start_2=186618159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr4 186619200 . A G 301.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.19;MQ0=0;OQ=4295.39;QD=18.59;RankSumP=0.421328;SB=-801.40;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_2=c.345T>C;refseq.codonCoord_2=115;refseq.end_1=186620780;refseq.end_2=186619200;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=421;refseq.name2_1=CCDC110;refseq.name2_2=CCDC110;refseq.name_1=NM_001145411;refseq.name_2=NM_152775;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D115D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=186618397;refseq.start_2=186619200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr4 186660631 . G A 173.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.35;MQ0=0;OQ=2076.28;QD=21.40;RankSumP=0.347974;SB=-452.81;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.762C>T;refseq.codingCoordStr_2=c.906C>T;refseq.codonCoord_1=254;refseq.codonCoord_2=302;refseq.end_1=186660631;refseq.end_2=186660631;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=886;refseq.mrnaCoord_2=1030;refseq.name2_1=PDLIM3;refseq.name2_2=PDLIM3;refseq.name_1=NM_001114107;refseq.name_2=NM_014476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V254V;refseq.proteinCoordStr_2=p.V302V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=186660631;refseq.start_2=186660631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr4 187241211 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=4;HaplotypeScore=12.85;MQ=98.87;MQ0=0;OQ=5143.05;QD=19.41;RankSumP=1.15071e-07;SB=-1996.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1377C>T;refseq.codonCoord=459;refseq.end=187241211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1478;refseq.name=NM_003265;refseq.name2=TLR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F459F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=744;refseq.start=187241211;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 0/1 chr4 187311827 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=99.00;MQ0=0;OQ=855.95;QD=12.06;RankSumP=0.461797;SB=-364.23;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.121A>G;refseq.codingCoordStr_2=c.121A>G;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=187311827;refseq.end_2=187311827;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=401;refseq.mrnaCoord_2=700;refseq.name2_1=FAM149A;refseq.name2_2=FAM149A;refseq.name_1=NM_001006655;refseq.name_2=NM_015398;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K41E;refseq.proteinCoordStr_2=p.K41E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=187311827;refseq.start_2=187311827;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr4 187314200 . A G 344.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=10.33;MQ=98.64;MQ0=0;OQ=4931.63;QD=17.93;RankSumP=0.292311;SB=-1651.57;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.436A>G;refseq.codingCoordStr_2=c.436A>G;refseq.codonCoord_1=146;refseq.codonCoord_2=146;refseq.end_1=187314200;refseq.end_2=187314200;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=716;refseq.mrnaCoord_2=1015;refseq.name2_1=FAM149A;refseq.name2_2=FAM149A;refseq.name_1=NM_001006655;refseq.name_2=NM_015398;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K146E;refseq.proteinCoordStr_2=p.K146E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=187314200;refseq.start_2=187314200;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr4 187315779 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=6.50;MQ=98.29;MQ0=0;OQ=1124.09;QD=8.99;RankSumP=0.202013;SB=-328.84;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.641A>G;refseq.codingCoordStr_2=c.641A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=187315779;refseq.end_2=187315779;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=921;refseq.mrnaCoord_2=1220;refseq.name2_1=FAM149A;refseq.name2_2=FAM149A;refseq.name_1=NM_001006655;refseq.name_2=NM_015398;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H214R;refseq.proteinCoordStr_2=p.H214R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=187315779;refseq.start_2=187315779;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr4 187315813 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=2.22;MQ=98.41;MQ0=0;OQ=2160.25;QD=14.12;RankSumP=0.00205075;SB=-1012.54;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr4;refseq.chr_2=chr4;refseq.codingCoordStr_1=c.675C>G;refseq.codingCoordStr_2=c.675C>G;refseq.codonCoord_1=225;refseq.codonCoord_2=225;refseq.end_1=187315813;refseq.end_2=187315813;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=1254;refseq.name2_1=FAM149A;refseq.name2_2=FAM149A;refseq.name_1=NM_001006655;refseq.name_2=NM_015398;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S225S;refseq.proteinCoordStr_2=p.S225S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=187315813;refseq.start_2=187315813;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=filterInsoap-gatk GT 1/0 chr4 187350035 . C G 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.64;MQ0=0;OQ=160.08;QD=5.93;RankSumP=0.204976;SB=-98.61;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.64C>G;refseq.codonCoord=22;refseq.end=187350035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_207352;refseq.name2=CYP4V2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L22V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-151;refseq.start=187350035;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr4 187357205 . C A 145.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.82;MQ0=0;OQ=4811.52;QD=20.47;RankSumP=0.310154;SB=-972.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.775C>A;refseq.codonCoord=259;refseq.end=187357205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1079;refseq.name=NM_207352;refseq.name2=CYP4V2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q259K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-27;refseq.start=187357205;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr4 187359313 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=98.92;MQ0=0;OQ=2061.78;QD=10.68;RankSumP=0.137929;SB=-526.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.810T>G;refseq.codonCoord=270;refseq.end=187359313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1114;refseq.name=NM_207352;refseq.name2=CYP4V2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A270A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=187359313;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr4 187395028 . G A 181.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.96;MQ0=0;OQ=5441.46;QD=20.53;RankSumP=0.0330321;SB=-1962.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.428G>A;refseq.codonCoord=143;refseq.end=187395028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_000892;refseq.name2=KLKB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S143N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-61;refseq.start=187395028;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr4 187416204 . T C 263.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=11.38;MQ=98.82;MQ0=0;OQ=15827.19;QD=37.95;RankSumP=1.00000;SB=-5677.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1761T>C;refseq.codonCoord=587;refseq.end=187416204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_000892;refseq.name2=KLKB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N587N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=36;refseq.start=187416204;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr4 187438205 . A G 341.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=10.01;MQ=98.64;MQ0=0;OQ=3924.31;QD=17.60;RankSumP=0.360731;SB=-1623.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.801A>G;refseq.codonCoord=267;refseq.end=187438205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_000128;refseq.name2=F11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T267T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=46;refseq.start=187438205;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr4 187442295 . T C 251.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=558;Dels=0.00;HRun=0;HaplotypeScore=15.54;MQ=98.73;MQ0=0;OQ=9029.90;QD=16.18;RankSumP=0.00830108;SB=-2259.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.1191T>C;refseq.codonCoord=397;refseq.end=187442295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_000128;refseq.name2=F11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G397G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=56;refseq.start=187442295;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr4 187692061 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.829T>G;refseq.codonCoord=277;refseq.end=187692061;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_005958;refseq.name2=MTNR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F277V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-259;refseq.start=187692061;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr4 189298100 . G A 250.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=343;Dels=0.00;HRun=1;HaplotypeScore=5.18;MQ=98.75;MQ0=0;OQ=14040.02;QD=40.93;RankSumP=1.00000;SB=-5828.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.394G>A;refseq.codonCoord=132;refseq.end=189298100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_178556;refseq.name2=TRIML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E132K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-15;refseq.start=189298100;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr4 191099176 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.56;MQ0=0;OQ=1145.88;QD=11.02;RankSumP=0.406437;SB=-391.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.18C>T;refseq.codonCoord=6;refseq.end=191099176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y6Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-45;refseq.start=191099176;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr4 191110329 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=43.18;MQ0=30;OQ=152.14;QD=1.03;SB=-61.77;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.152C>T;refseq.codonCoord=51;refseq.end=191110329;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=343;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T51I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=19;refseq.start=191110329;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:122,26:103:-49.51,-31.01,-372.41:99 chr4 191110341 . A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=169;Dels=0.00;HRun=1;HaplotypeScore=5.09;MQ=43.02;MQ0=29;OQ=191.98;QD=1.14;SB=-89.02;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.164A>G;refseq.codonCoord=55;refseq.end=191110341;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E55G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=31;refseq.start=191110341;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:138,31:124:-59.82,-37.34,-483.27:99 chr4 191110373 rs17406826 A G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=37.35;MQ0=42;OQ=268.64;QD=1.44;SB=-102.60;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.196A>G;refseq.codonCoord=66;refseq.end=191110373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K66E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=63;refseq.start=191110373;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:132,55:123:-67.19,-37.04,-456.87:99 chr4 191111221 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=573;Dels=0.00;HRun=1;HaplotypeScore=84.44;MQ=53.62;MQ0=90;OQ=1194.58;QD=2.08;RankSumP=0.390197;SB=-528.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.264T>G;refseq.codonCoord=88;refseq.end=191111221;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D88E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=191111221;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr4 191111228 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=615;Dels=0.00;HRun=0;HaplotypeScore=80.44;MQ=53.42;MQ0=92;OQ=1697.79;QD=2.76;RankSumP=0.477624;SB=-580.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.271C>T;refseq.codonCoord=91;refseq.end=191111228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P91S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=12;refseq.start=191111228;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 0/1 chr4 191111249 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=660;Dels=0.00;HRun=3;HaplotypeScore=100.79;MQ=53.35;MQ0=95;OQ=1959.38;QD=2.97;RankSumP=0.402405;SB=-872.84;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.292A>T;refseq.codonCoord=98;refseq.end=191111249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T98S;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-26;refseq.start=191111249;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 0/1 chr4 191111250 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.359867;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.293C>T;refseq.codonCoord=98;refseq.end=191111250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T98M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-25;refseq.start=191111250;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr4 191111275 . G T 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0674201;SecondBestBaseQ=25;refseq.chr=chr4;refseq.codingCoordStr=c.317+1;refseq.end=191111275;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=191111275;refseq.transcriptStrand=+;set=soap GT 0/1 chr4 191113186 . A C 610.05 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=95.67;MQ=89.10;MQ0=5;QD=1.99;SB=-60.93;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.318A>C;refseq.codonCoord=106;refseq.end=191113186;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R106S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=191113186;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:271,36:271:-145.89,-81.61,-867.48:99 chr4 191113189 . C T 7256.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=178.30;MQ=89.54;MQ0=5;QD=21.09;RankSumP=0.297977;SB=-491.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=191113189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I107I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=191113189;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap-filterIngatk GT 0/1 chr4 191113190 rs1138719 G A 3138.32 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=183.29;MQ=89.82;MQ0=5;QD=8.79;SB=-28.92;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.322G>A;refseq.codonCoord=108;refseq.end=191113190;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A108T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=191113190;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:253,104:312:-411.08,-93.96,-883.41:99 chr4 191113198 . G A 15008.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=501;Dels=0.00;HRun=2;HaplotypeScore=177.86;MQ=91.60;MQ0=4;QD=29.96;RankSumP=0.493222;SB=-1080.74;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.330G>A;refseq.codonCoord=110;refseq.end=191113198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K110K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=13;refseq.start=191113198;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/0 chr4 191113236 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1500;Dels=0.00;HRun=1;HaplotypeScore=30.83;MQ=91.43;MQ0=4;OQ=45581.64;QD=30.39;RankSumP=0.345541;SB=-16096.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.368G>A;refseq.codonCoord=123;refseq.end=191113236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G123E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=51;refseq.start=191113236;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr4 191113251 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1690;Dels=0.00;HRun=0;HaplotypeScore=211.44;MQ=90.56;MQ0=20;OQ=12817.03;QD=7.58;RankSumP=0.353212;SB=-4221.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.383G>A;refseq.codonCoord=128;refseq.end=191113251;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-50;refseq.start=191113251;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 1/0 chr4 191113257 . A T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.488805;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.389A>T;refseq.codonCoord=130;refseq.end=191113257;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=580;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D130V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-44;refseq.start=191113257;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 0/1 chr4 191113263 . T C 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.426051;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.395T>C;refseq.codonCoord=132;refseq.end=191113263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I132T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-38;refseq.start=191113263;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 1/0 chr4 191113295 . C A 6843.19 BadSOAPSNP;ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1048;Dels=0.00;HRun=4;HaplotypeScore=250.51;MQ=87.03;MQ0=51;QD=6.53;RankSumP=0.377732;SB=-1102.53;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.427C>A;refseq.codonCoord=143;refseq.end=191113295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q143K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=191113295;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr4 191113299 . A T 113.32 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=952;Dels=0.00;HRun=1;HaplotypeScore=262.32;MQ=87.01;MQ0=51;QD=0.12;SB=31.53;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.431A>T;refseq.codonCoord=144;refseq.end=191113299;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N144I;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=191113299;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:878,74:784:-250.70,-236.08,-2859.40:99 chr4 191113300 . T C 140.75 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=942;Dels=0.00;HRun=0;HaplotypeScore=255.08;MQ=87.13;MQ0=51;QD=0.15;SB=80.73;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=191113300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N144N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=191113300;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:880,62:777:-251.35,-233.99,-3070.45:99 chr4 191113301 . G C 492.78 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=909;Dels=0.00;HRun=0;HaplotypeScore=244.72;MQ=86.91;MQ0=51;QD=0.54;SB=59.18;refseq.chr=chr4;refseq.codingCoordStr=c.432+1;refseq.end=191113301;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=191113301;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:851,58:747:-277.50,-224.94,-3305.80:99 chr4 191115557 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.405126;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.443C>A;refseq.codonCoord=148;refseq.end=191115557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A148D;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=11;refseq.start=191115557;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr4 191115563 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=499;Dels=0.00;HRun=0;HaplotypeScore=68.96;MQ=32.75;MQ0=413;OQ=300.94;QD=0.60;SB=56.22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.449T>C;refseq.codonCoord=150;refseq.end=191115563;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L150S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=17;refseq.start=191115563;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:485,14:79:-57.16,-23.79,-283.77:99 chr4 191115565 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=528;Dels=0.00;HRun=0;HaplotypeScore=126.14;MQ=32.16;MQ0=437;OQ=239.38;QD=0.45;SB=56.22;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.451G>A;refseq.codonCoord=151;refseq.end=191115565;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=19;refseq.start=191115565;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:514,13:81:-51.61,-24.39,-297.63:99 chr4 191115574 . A G 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=635;Dels=0.00;HRun=1;HaplotypeScore=65.07;MQ=31.10;MQ0=522;OQ=435.51;QD=0.69;RankSumP=0.421727;SB=-100.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.460A>G;refseq.codonCoord=154;refseq.end=191115574;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S154G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=28;refseq.start=191115574;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr4 191115590 . G A 263.23 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=878;Dels=0.00;HRun=0;HaplotypeScore=121.51;MQ=32.16;MQ0=696;QD=0.30;SB=-43.80;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.476G>A;refseq.codonCoord=159;refseq.end=191115590;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C159Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=44;refseq.start=191115590;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:848,29:156:-76.58,-46.98,-569.87:99 chr4 191115591 . C T 1783.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=895;Dels=0.00;HRun=0;HaplotypeScore=125.48;MQ=32.07;MQ0=705;QD=1.99;RankSumP=0.0694141;SB=-551.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.477C>T;refseq.codonCoord=159;refseq.end=191115591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C159C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=45;refseq.start=191115591;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap-filterIngatk GT 0/1 chr4 191115593 . A G 370.51 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=926;Dels=0.00;HRun=0;HaplotypeScore=152.19;MQ=31.65;MQ0=724;QD=0.40;SB=-50.32;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.479A>G;refseq.codonCoord=160;refseq.end=191115593;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N160S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=47;refseq.start=191115593;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:892,34:173:-92.43,-52.10,-652.75:99 chr4 191115602 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1039;Dels=0.00;HRun=0;HaplotypeScore=63.65;MQ=31.60;MQ0=763;OQ=157.55;QD=0.15;SB=-25.51;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.488G>A;refseq.codonCoord=163;refseq.end=191115602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G163E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-50;refseq.start=191115602;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1005,31:236:-89.19,-70.15,-891.90:99 chr4 191115648 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=886;Dels=0.00;HRun=0;HaplotypeScore=414.37;MQ=37.67;MQ0=374;OQ=6463.28;QD=7.29;RankSumP=0.158655;SB=-1905.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.534C>G;refseq.codonCoord=178;refseq.end=191115648;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I178M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=191115648;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/0 chr4 191118921 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.175553;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.562A>G;refseq.codonCoord=188;refseq.end=191118921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T188A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=25;refseq.start=191118921;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr4 191118925 . A C 50 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00121832;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.566A>C;refseq.codonCoord=189;refseq.end=191118925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K189T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=29;refseq.start=191118925;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 0/1 chr4 191118927 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=958;Dels=0.00;HRun=1;HaplotypeScore=197.94;MQ=18.04;MQ0=885;OQ=2159.35;QD=2.25;RankSumP=0.00464495;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.568A>G;refseq.codonCoord=190;refseq.end=191118927;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K190E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=31;refseq.start=191118927;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr4 191118943 . C A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.236230;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.584C>A;refseq.codonCoord=195;refseq.end=191118943;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P195Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-46;refseq.start=191118943;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr4 191118951 . G T 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.473082;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.592G>T;refseq.codonCoord=198;refseq.end=191118951;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D198Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-38;refseq.start=191118951;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 0/1 chr4 191118963 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=713;Dels=0.00;HRun=0;HaplotypeScore=182.11;MQ=30.78;MQ0=538;OQ=4607.10;QD=6.46;RankSumP=0.442384;SB=-1515.11;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.604G>A;refseq.codonCoord=202;refseq.end=191118963;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V202I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-26;refseq.start=191118963;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap-filterIngatk GT 1/0 chr4 191118965 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00740742;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.606A>C;refseq.codonCoord=202;refseq.end=191118965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V202V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-24;refseq.start=191118965;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr4 191118986 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=411;Dels=0.00;HRun=0;HaplotypeScore=16.77;MQ=41.50;MQ0=212;OQ=4575.37;QD=11.13;RankSumP=0.657905;SB=-909.30;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.627T>C;refseq.codonCoord=209;refseq.end=191118986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y209Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=191118986;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr4 191119992 . A G 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=1;HaplotypeScore=19.57;MQ=25.89;MQ0=50;OQ=138.69;QD=0.98;SB=-33.32;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.651A>G;refseq.codonCoord=217;refseq.end=191119992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q217Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=22;refseq.start=191119992;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:116,26:73:-39.13,-21.98,-287.41:99 chr4 191120045 rs1803593 G A 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=8.89;MQ=29.56;MQ0=60;OQ=52.73;QD=0.32;SB=110.38;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.704G>A;refseq.codonCoord=235;refseq.end=191120045;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_004477;refseq.name2=FRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R235Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-37;refseq.start=191120045;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=gatk GT:AD:DP:GL:GQ 0/1:81,83:89:-35.36,-26.80,-323.05:85.57 chr4 191183860 . G A 12 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=193;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=1.87;MQ0=192;QD=0.06;SB=-10.00;refseq.changesAA=false;refseq.chr=chr4;refseq.codingCoordStr=c.687C>T;refseq.codonCoord=229;refseq.end=191183860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_001005217;refseq.name2=FRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T229T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=356;refseq.start=191183860;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:153,40:1:-4.46,-0.30,-0.00:1.76 chr4 191184564 . C G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=524;Dels=0.00;HRun=0;HaplotypeScore=22.10;MQ=9.23;MQ0=478;OQ=53.07;QD=0.10;SB=15.78;refseq.changesAA=true;refseq.chr=chr4;refseq.codingCoordStr=c.300G>C;refseq.codonCoord=100;refseq.end=191184564;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=353;refseq.name=NM_001005217;refseq.name2=FRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M100I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-32;refseq.start=191184564;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:464,60:32:-18.23,-9.64,-139.51:85.91 chr5 216205 rs3810870 G C 59.75 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=2.55;MQ=99.00;MQ0=0;OQ=234.64;QD=13.80;SB=-120.71;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1950G>C;refseq.codonCoord=650;refseq.end=216205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2000;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A650A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=369;refseq.start=216205;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:9,8:15:-31.27,-4.52,-35.55:99 chr5 216260 . A C 26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=20;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=97.83;MQ0=0;OQ=599.19;QD=29.96;RankSumP=1.00000;SB=-291.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2005A>C;refseq.codonCoord=669;refseq.end=216260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2055;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T669P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-404;refseq.start=216260;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr5 216266 . C G 22.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.83;MQ0=0;OQ=338.02;QD=16.90;RankSumP=0.431818;SB=-170.61;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2011C>G;refseq.codonCoord=671;refseq.end=216266;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2061;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R671G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-398;refseq.start=216266;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr5 216536 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=4.13954e-06;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2281G>T;refseq.codonCoord=761;refseq.end=216536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2331;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V761L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-128;refseq.start=216536;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr5 226145 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3116G>C;refseq.codonCoord=1039;refseq.end=226145;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3166;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1039A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-38;refseq.start=226145;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr5 227106 . G A 304.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.64;MQ0=0;OQ=2229.13;QD=37.15;RankSumP=1.00000;SB=-417.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3227G>A;refseq.codonCoord=1076;refseq.end=227106;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3277;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1076Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=74;refseq.start=227106;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 234660 . T G 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=211;Dels=0.00;HRun=3;HaplotypeScore=2.95;MQ=98.94;MQ0=0;OQ=8026.92;QD=38.04;RankSumP=1.00000;SB=-3424.93;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3366T>G;refseq.codonCoord=1122;refseq.end=234660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3416;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1122G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=32;refseq.start=234660;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 234730 . C G 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=176;Dels=0.00;HRun=3;HaplotypeScore=3.93;MQ=98.69;MQ0=0;OQ=7636.75;QD=43.39;RankSumP=1.00000;SB=-3129.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3436C>G;refseq.codonCoord=1146;refseq.end=234730;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3486;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1146G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-61;refseq.start=234730;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 234762 . A G 299.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=6.43;MQ=98.77;MQ0=0;OQ=5741.49;QD=38.28;RankSumP=1.00000;SB=-2570.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3468A>G;refseq.codonCoord=1156;refseq.end=234762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3518;refseq.name=NM_052909;refseq.name2=PLEKHG4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1156R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-29;refseq.start=234762;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 279091 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.301059;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.550G>A;refseq.codonCoord=184;refseq.end=279091;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_004168;refseq.name2=SDHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G184R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-72;refseq.start=279091;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr5 284111 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=3;HaplotypeScore=2.09;MQ=88.16;MQ0=20;OQ=6645.54;QD=34.61;RankSumP=1.00000;SB=-2964.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.891T>C;refseq.codonCoord=297;refseq.end=284111;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1006;refseq.name=NM_004168;refseq.name2=SDHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P297P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=284111;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr5 293566 . C G 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.102028;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1526C>G;refseq.codonCoord=509;refseq.end=293566;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1641;refseq.name=NM_004168;refseq.name2=SDHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S509W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-26;refseq.start=293566;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 1/0 chr5 293567 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.265625;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1527G>A;refseq.codonCoord=509;refseq.end=293567;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1642;refseq.name=NM_004168;refseq.name2=SDHA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S509S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-25;refseq.start=293567;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr5 364478 . T C 271.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.25;MQ0=0;OQ=9425.34;QD=34.91;RankSumP=1.00000;SB=-4081.55;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.438T>C;refseq.codonCoord_2=146;refseq.end_1=396997;refseq.end_2=364478;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=538;refseq.name2_1=AHRR;refseq.name2_2=PDCD6;refseq.name_1=NM_020731;refseq.name_2=NM_013232;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I146I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=-40;refseq.start_1=357347;refseq.start_2=364478;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr5 475955 . C G 136.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=99.00;MQ0=0;OQ=1795.20;QD=17.77;RankSumP=0.456650;SB=-498.91;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.565C>G;refseq.codonCoord=189;refseq.end=475955;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_020731;refseq.name2=AHRR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P189A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-19;refseq.start=475955;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr5 481044 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=120;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=97.51;MQ0=0;OQ=2417.08;QD=20.14;RankSumP=0.0447106;SB=-900.26;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.897C>T;refseq.codonCoord=299;refseq.end=481044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_020731;refseq.name2=AHRR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S299S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-78;refseq.start=481044;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr5 487722 . G C 46.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.28;MQ0=0;OQ=386.00;QD=32.17;RankSumP=0.329670;SB=-139.38;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1933G>C;refseq.codonCoord=645;refseq.end=487722;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1977;refseq.name=NM_020731;refseq.name2=AHRR;refseq.positionType=CDS;refseq.proteinCoordStr=p.D645H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=755;refseq.start=487722;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr5 495791 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.147A>C;refseq.codonCoord=49;refseq.end=495791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_138464;refseq.name2=C5orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.I49I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=468;refseq.start=495791;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr5 528104 . A G 170.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.90;MQ0=0;OQ=1926.53;QD=33.80;RankSumP=1.00000;SB=-842.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2395T>C;refseq.codonCoord=799;refseq.end=528104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2507;refseq.name=NM_004174;refseq.name2=SLC9A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C799R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-107;refseq.start=528104;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr5 529353 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.44;MQ0=0;OQ=837.99;QD=19.95;RankSumP=0.688326;SB=-164.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2031G>A;refseq.codonCoord=677;refseq.end=529353;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_004174;refseq.name2=SLC9A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A677A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-37;refseq.start=529353;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr5 535186 . C G 156.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=95.98;MQ0=0;OQ=1172.29;QD=43.42;RankSumP=1.00000;SB=-103.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1443G>C;refseq.codonCoord=481;refseq.end=535186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_004174;refseq.name2=SLC9A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G481G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=535186;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr5 536564 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=706.41;QD=13.58;RankSumP=0.663184;SB=-350.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.966T>C;refseq.codonCoord=322;refseq.end=536564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1078;refseq.name=NM_004174;refseq.name2=SLC9A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y322Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=34;refseq.start=536564;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr5 692231 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.46;MQ0=0;OQ=736.73;QD=14.17;RankSumP=0.697247;SB=-71.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1234C>A;refseq.codonCoord=412;refseq.end=692231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_018140;refseq.name2=CEP72;refseq.positionType=CDS;refseq.proteinCoordStr=p.P412T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=28;refseq.start=692231;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr5 693705 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.51;MQ0=0;OQ=1005.60;QD=12.26;RankSumP=0.136150;SB=-168.60;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1525A>G;refseq.codonCoord=509;refseq.end=693705;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_018140;refseq.name2=CEP72;refseq.positionType=CDS;refseq.proteinCoordStr=p.T509A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-15;refseq.start=693705;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr5 718280 . T C 71.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=3.17;MQ=98.86;MQ0=0;OQ=5609.71;QD=36.66;RankSumP=1.00000;SB=-2609.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.597A>G;refseq.codonCoord=199;refseq.end=718280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_007030;refseq.name2=TPPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=132;refseq.start=718280;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 718295 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=4.96;MQ=98.86;MQ0=0;OQ=1789.87;QD=11.47;RankSumP=0.473351;SB=-889.28;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.582T>C;refseq.codonCoord=194;refseq.end=718295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_007030;refseq.name2=TPPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D194D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=117;refseq.start=718295;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr5 731062 . A G 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=7.37;MQ=94.56;MQ0=0;OQ=692.55;QD=16.11;RankSumP=1.00000;SB=-102.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.114T>C;refseq.codonCoord=38;refseq.end=731062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_007030;refseq.name2=TPPP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A38A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=118;refseq.start=731062;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr5 890582 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.400000;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.798G>A;refseq.codonCoord=266;refseq.end=890582;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_024786;refseq.name2=ZDHHC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.M266I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=14;refseq.start=890582;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 0/1 chr5 901710 . G A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.288C>T;refseq.codonCoord=96;refseq.end=901710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_024786;refseq.name2=ZDHHC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A96A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=66;refseq.start=901710;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr5 903678 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.40G>A;refseq.codonCoord=14;refseq.end=903678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_024786;refseq.name2=ZDHHC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.E14K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-183;refseq.start=903678;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 923619 . A G 299.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.75;MQ0=0;OQ=3110.80;QD=16.37;RankSumP=0.0727255;SB=-1140.79;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.1335T>C;refseq.codingCoordStr_3=c.1494T>C;refseq.codonCoord_2=445;refseq.codonCoord_3=498;refseq.end_1=923619;refseq.end_2=923619;refseq.end_3=923619;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1840;refseq.mrnaCoord_2=1488;refseq.mrnaCoord_3=1661;refseq.name2_1=BRD9;refseq.name2_2=BRD9;refseq.name2_3=BRD9;refseq.name_1=NR_027633;refseq.name_2=NM_001009877;refseq.name_3=NM_023924;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V445V;refseq.proteinCoordStr_3=p.V498V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=923619;refseq.start_2=923619;refseq.start_3=923619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 0/1 chr5 931525 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.259313;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.1057A>T;refseq.codingCoordStr_3=c.1216A>T;refseq.codonCoord_2=353;refseq.codonCoord_3=406;refseq.end_1=931525;refseq.end_2=931525;refseq.end_3=931525;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1562;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1383;refseq.name2_1=BRD9;refseq.name2_2=BRD9;refseq.name2_3=BRD9;refseq.name_1=NR_027633;refseq.name_2=NM_001009877;refseq.name_3=NM_023924;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.M353L;refseq.proteinCoordStr_3=p.M406L;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=931525;refseq.start_2=931525;refseq.start_3=931525;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=soap GT 1/0 chr5 960274 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=2.05932e-06;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.638A>C;refseq.codingCoordStr_2=c.638A>C;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.end_1=960274;refseq.end_2=960274;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=783;refseq.mrnaCoord_2=783;refseq.name2_1=TRIP13;refseq.name2_2=TRIP13;refseq.name_1=NM_001166260;refseq.name_2=NM_004237;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N213T;refseq.proteinCoordStr_2=p.N213T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=960274;refseq.start_2=960274;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr5 967664 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=840;Dels=0.00;HRun=0;HaplotypeScore=19.52;MQ=98.79;MQ0=0;OQ=16712.46;QD=19.90;RankSumP=0.0811086;SB=-4353.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1105T>C;refseq.codonCoord=369;refseq.end=967664;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_004237;refseq.name2=TRIP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.L369L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-29;refseq.start=967664;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr5 1118399 . C T 383.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.48;MQ0=0;OQ=2803.88;QD=36.89;RankSumP=1.00000;SB=-748.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2436G>A;refseq.codonCoord=812;refseq.end=1118399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2502;refseq.name=NM_006598;refseq.name2=SLC12A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V812V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=1118399;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr5 1134702 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=3;HaplotypeScore=12.79;MQ=97.44;MQ0=1;OQ=1678.23;QD=17.12;RankSumP=0.0504562;SB=-540.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1287T>C;refseq.codonCoord=429;refseq.end=1134702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1353;refseq.name=NM_006598;refseq.name2=SLC12A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P429P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-11;refseq.start=1134702;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr5 1134767 . C T 242.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.52;MQ0=0;OQ=1804.52;QD=15.42;RankSumP=0.452626;SB=-669.68;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1222G>A;refseq.codonCoord=408;refseq.end=1134767;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1288;refseq.name=NM_006598;refseq.name2=SLC12A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A408T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-76;refseq.start=1134767;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr5 1269775 . A G 286.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.65;MQ0=0;OQ=12530.75;QD=35.30;RankSumP=1.00000;SB=-4063.13;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.990A>G;refseq.codonCoord=330;refseq.end=1269775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1046;refseq.name=NM_001003841;refseq.name2=SLC6A19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T330T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-27;refseq.start=1269775;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 1274887 . A G 42.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=276;Dels=0.00;HRun=2;HaplotypeScore=26.29;MQ=97.60;MQ0=0;QD=0.15;RankSumP=0.00000;SB=453.54;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1773A>G;refseq.codonCoord=591;refseq.end=1274887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1829;refseq.name=NM_001003841;refseq.name2=SLC6A19;refseq.positionType=CDS;refseq.proteinCoordStr=p.G591G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=72;refseq.start=1274887;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 1274889 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1775T>G;refseq.codonCoord=592;refseq.end=1274889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_001003841;refseq.name2=SLC6A19;refseq.positionType=CDS;refseq.proteinCoordStr=p.V592G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=74;refseq.start=1274889;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 1278613 . G A 219.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=98.23;MQ0=0;OQ=757.50;QD=37.87;RankSumP=1.00000;SB=-129.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.21G>A;refseq.codonCoord=7;refseq.end=1278613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=144;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.P7P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-140;refseq.start=1278613;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr5 1278626 . T A 291.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=906.35;QD=36.25;RankSumP=1.00000;SB=-171.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.34T>A;refseq.codonCoord=12;refseq.end=1278626;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.C12S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-127;refseq.start=1278626;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 1278687 . C T 220.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=97.19;MQ0=0;OQ=5522.38;QD=40.61;RankSumP=1.00000;SB=-1316.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.95C>T;refseq.codonCoord=32;refseq.end=1278687;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-66;refseq.start=1278687;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=filterInsoap-gatk GT 1/1 chr5 1278688 . T C 213.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=97.23;MQ0=0;OQ=5350.25;QD=38.49;RankSumP=1.00000;SB=-1178.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=1278688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-65;refseq.start=1278688;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr5 1278703 . A G 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=171;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=97.39;MQ0=0;OQ=6967.14;QD=40.74;RankSumP=1.00000;SB=-2284.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.111A>G;refseq.codonCoord=37;refseq.end=1278703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.G37G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-50;refseq.start=1278703;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 1291077 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.634A>C;refseq.codonCoord=212;refseq.end=1291077;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T212P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=13;refseq.start=1291077;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr5 1293757 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=99.00;MQ0=0;OQ=657.47;QD=12.64;RankSumP=0.603384;SB=-124.64;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.957C>G;refseq.codonCoord=319;refseq.end=1293757;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y319*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-18;refseq.start=1293757;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 1/0 chr5 1297425 . C T 110.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=98.83;MQ0=0;OQ=1920.06;QD=12.00;RankSumP=0.296406;SB=-624.04;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1433C>T;refseq.codonCoord=478;refseq.end=1297425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_182632;refseq.name2=SLC6A18;refseq.positionType=CDS;refseq.proteinCoordStr=p.P478L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-64;refseq.start=1297425;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 1496199 . G A 323.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.92;MQ0=0;OQ=3100.31;QD=17.62;RankSumP=0.329608;SB=-1240.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.114C>T;refseq.codonCoord=38;refseq.end=1496199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_001044;refseq.name2=SLC6A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N38N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=159;refseq.start=1496199;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 1519919 . G A 227.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=98.45;MQ0=0;OQ=1473.88;QD=14.59;RankSumP=0.349269;SB=-724.96;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1365C>T;refseq.codonCoord=455;refseq.end=1519919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_024830;refseq.name2=LPCAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T455T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-56;refseq.start=1519919;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr5 1536600 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.669T>G;refseq.codonCoord=223;refseq.end=1536600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_024830;refseq.name2=LPCAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G223G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=1536600;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 1933865 . T C 116.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=8.02;MQ=96.82;MQ0=0;OQ=4116.09;QD=14.91;RankSumP=0.0657950;SB=-628.34;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.381A>G;refseq.codonCoord=127;refseq.end=1933865;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_016358;refseq.name2=IRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P127P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-27;refseq.start=1933865;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr5 1933891 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=126.10;MQ=96.33;MQ0=0;OQ=6123.62;QD=15.20;RankSumP=0.273880;SB=-2088.80;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.355G>A;refseq.codonCoord=119;refseq.end=1933891;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_016358;refseq.name2=IRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-53;refseq.start=1933891;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr5 1933898 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.348A>C;refseq.codonCoord=116;refseq.end=1933898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_016358;refseq.name2=IRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A116A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=51;refseq.start=1933898;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr5 1935129 . T G 70.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.73;MQ0=0;OQ=162.34;QD=20.29;RankSumP=0.200000;SB=-90.13;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.90A>C;refseq.codonCoord=30;refseq.end=1935129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_016358;refseq.name2=IRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G30G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=45;refseq.start=1935129;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr5 3653136 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.36;MQ0=0;OQ=210.70;QD=14.05;RankSumP=0.355186;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1074G>A;refseq.codonCoord=358;refseq.end=3653136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_024337;refseq.name2=IRX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L358L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-239;refseq.start=3653136;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr5 3653334 . T C 202.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.51;MQ0=0;OQ=1369.95;QD=32.62;RankSumP=1.00000;SB=-504.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1272T>C;refseq.codonCoord=424;refseq.end=3653334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1324;refseq.name=NM_024337;refseq.name2=IRX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N424N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=3653334;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr5 5199335 . C G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=13.96;MQ=98.66;MQ0=0;OQ=9965.62;QD=42.23;RankSumP=1.00000;SB=-4538.07;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.268C>G;refseq.codonCoord=90;refseq.end=5199335;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P90A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=93;refseq.start=5199335;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr5 5199377 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=178;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=98.40;MQ0=0;OQ=2617.22;QD=14.70;RankSumP=0.0437973;SB=-1202.64;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.310T>C;refseq.codonCoord=104;refseq.end=5199377;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S104P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=135;refseq.start=5199377;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr5 5199395 . A G 225.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=98.40;MQ0=0;OQ=2639.93;QD=14.67;RankSumP=0.286645;SB=-825.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.328A>G;refseq.codonCoord=110;refseq.end=5199395;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M110V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=153;refseq.start=5199395;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr5 5253281 . C T 344.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.34;MQ0=0;OQ=3826.84;QD=39.05;RankSumP=1.00000;SB=-213.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1350C>T;refseq.codonCoord=450;refseq.end=5253281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1488;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.C450C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=37;refseq.start=5253281;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr5 5292921 . C T 348.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=10.90;MQ=98.61;MQ0=0;OQ=5782.80;QD=20.43;RankSumP=0.253720;SB=-2173.50;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2406C>T;refseq.codonCoord=802;refseq.end=5292921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2544;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T802T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-118;refseq.start=5292921;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr5 5293002 . C A 341.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=98.70;MQ0=0;OQ=4019.92;QD=18.61;RankSumP=0.116289;SB=-1555.34;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2487C>A;refseq.codonCoord=829;refseq.end=5293002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.I829I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-37;refseq.start=5293002;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr5 5356863 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3170T>G;refseq.codonCoord=1057;refseq.end=5356863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3308;refseq.name=NM_139056;refseq.name2=ADAMTS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1057G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-17;refseq.start=5356863;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 6430293 . C T 117.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=98.56;MQ0=0;OQ=1852.46;QD=12.03;RankSumP=0.144061;SB=-719.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.192G>A;refseq.codonCoord=64;refseq.end=6430293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_032286;refseq.name2=MED10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P64P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-15;refseq.start=6430293;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr5 6685000 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.345A>C;refseq.codonCoord=115;refseq.end=6685000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_017755;refseq.name2=NSUN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P115P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-15;refseq.start=6685000;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 6686042 . C T 34.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=138.11;QD=17.26;RankSumP=1.00000;SB=-95.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.51G>A;refseq.codonCoord=17;refseq.end=6686042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=116;refseq.name=NM_017755;refseq.name2=NSUN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E17E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-46;refseq.start=6686042;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/1 chr5 6686779 . C G 112.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=81.08;MQ0=0;OQ=475.40;QD=36.57;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.90C>G;refseq.codonCoord=30;refseq.end=6686779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_001047;refseq.name2=SRD5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R30R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-204;refseq.start=6686779;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 6704970 . A G 351.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.31;MQ0=0;OQ=11437.75;QD=37.38;RankSumP=1.00000;SB=-3145.41;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.309A>G;refseq.codonCoord=103;refseq.end=6704970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_001047;refseq.name2=SRD5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=16;refseq.start=6704970;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 6705009 . G A 151.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=1.54;MQ=96.94;MQ0=0;OQ=15595.90;QD=42.27;RankSumP=1.00000;SB=-6500.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.348G>A;refseq.codonCoord=116;refseq.end=6705009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=538;refseq.name=NM_001047;refseq.name2=SRD5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A116A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=55;refseq.start=6705009;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr5 6709210 . G A 174.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=93.67;MQ0=2;OQ=7862.09;QD=42.50;RankSumP=1.00000;SB=-2835.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.480G>A;refseq.codonCoord=160;refseq.end=6709210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_001047;refseq.name2=SRD5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T160T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=20;refseq.start=6709210;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 6801659 . T C 231.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=2732.84;QD=35.96;RankSumP=1.00000;SB=-766.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.792T>C;refseq.codingCoordStr_2=c.252T>C;refseq.codingCoordStr_3=c.792T>C;refseq.codonCoord_1=264;refseq.codonCoord_2=84;refseq.codonCoord_3=264;refseq.end_1=6801659;refseq.end_2=6801659;refseq.end_3=6801659;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=921;refseq.mrnaCoord_2=523;refseq.mrnaCoord_3=921;refseq.name2_1=PAPD7;refseq.name2_2=PAPD7;refseq.name2_3=PAPD7;refseq.name_1=NM_001171805;refseq.name_2=NM_001171806;refseq.name_3=NM_006999;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A264A;refseq.proteinCoordStr_2=p.A84A;refseq.proteinCoordStr_3=p.A264A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=6801659;refseq.start_2=6801659;refseq.start_3=6801659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr5 7796787 . C T 202 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=98.87;MQ0=0;OQ=4725.26;QD=18.60;RankSumP=0.182859;SB=-1137.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1878C>T;refseq.codonCoord=626;refseq.end=7796787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1945;refseq.name=NM_020546;refseq.name2=ADCY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S626S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=7796787;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr5 7888555 . C G 252.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=11.54;MQ=98.91;MQ0=0;OQ=8888.84;QD=23.39;RankSumP=0.484388;SB=-2800.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.204G>C;refseq.codonCoord=68;refseq.end=7888555;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_001089584;refseq.name2=C5orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q68H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=57;refseq.start=7888555;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr5 7919967 . G C 329.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=6830.84;QD=45.84;RankSumP=1.00000;SB=-3102.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1230C>G;refseq.codonCoord=410;refseq.end=7919967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_024091;refseq.name2=FASTKD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A410A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-209;refseq.start=7919967;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr5 7921030 . T C 275 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.84;MQ0=0;OQ=15402.56;QD=41.29;RankSumP=1.00000;SB=-6637.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.167A>G;refseq.codonCoord=56;refseq.end=7921030;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_024091;refseq.name2=FASTKD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K56R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=280;refseq.start=7921030;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr5 7923973 . A G 283.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=14.21;MQ=98.96;MQ0=0;OQ=7620.15;QD=21.65;RankSumP=0.489817;SB=-2528.48;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.66A>G;refseq.codingCoordStr_2=c.147A>G;refseq.codonCoord_1=22;refseq.codonCoord_2=49;refseq.end_1=7923973;refseq.end_2=7923973;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=203;refseq.mrnaCoord_2=177;refseq.name2_1=MTRR;refseq.name2_2=MTRR;refseq.name_1=NM_002454;refseq.name_2=NM_024010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I22M;refseq.proteinCoordStr_2=p.I49M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=7923973;refseq.start_2=7923973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr5 7931192 . T C 178.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=99.00;MQ0=0;OQ=2412.02;QD=17.35;RankSumP=0.197843;SB=-656.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.537T>C;refseq.codingCoordStr_2=c.618T>C;refseq.codonCoord_1=179;refseq.codonCoord_2=206;refseq.end_1=7931192;refseq.end_2=7931192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=674;refseq.mrnaCoord_2=648;refseq.name2_1=MTRR;refseq.name2_2=MTRR;refseq.name_1=NM_002454;refseq.name_2=NM_024010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L179L;refseq.proteinCoordStr_2=p.L206L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.start_1=7931192;refseq.start_2=7931192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr5 7938959 . A G 100.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=98.46;MQ0=0;OQ=8020.23;QD=20.46;RankSumP=0.117458;SB=-3232.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1049A>G;refseq.codingCoordStr_2=c.1130A>G;refseq.codonCoord_1=350;refseq.codonCoord_2=377;refseq.end_1=7938959;refseq.end_2=7938959;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1186;refseq.mrnaCoord_2=1160;refseq.name2_1=MTRR;refseq.name2_2=MTRR;refseq.name_1=NM_002454;refseq.name_2=NM_024010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K350R;refseq.proteinCoordStr_2=p.K377R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=7938959;refseq.start_2=7938959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr5 7950191 . C T 235.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.91;MQ0=0;OQ=1915.34;QD=18.42;RankSumP=0.393225;SB=-407.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1783C>T;refseq.codingCoordStr_2=c.1864C>T;refseq.codonCoord_1=595;refseq.codonCoord_2=622;refseq.end_1=7950191;refseq.end_2=7950191;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1920;refseq.mrnaCoord_2=1894;refseq.name2_1=MTRR;refseq.name2_2=MTRR;refseq.name_1=NM_002454;refseq.name_2=NM_024010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H595Y;refseq.proteinCoordStr_2=p.H622Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=7950191;refseq.start_2=7950191;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr5 7950283 . G A 186.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=445;Dels=0.00;HRun=0;HaplotypeScore=17.15;MQ=98.70;MQ0=0;OQ=7148.15;QD=16.06;RankSumP=0.152447;SB=-1291.24;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1875G>A;refseq.codingCoordStr_2=c.1956G>A;refseq.codonCoord_1=625;refseq.codonCoord_2=652;refseq.end_1=7950283;refseq.end_2=7950283;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2012;refseq.mrnaCoord_2=1986;refseq.name2_1=MTRR;refseq.name2_2=MTRR;refseq.name_1=NM_002454;refseq.name_2=NM_024010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V625V;refseq.proteinCoordStr_2=p.V652V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.start_1=7950283;refseq.start_2=7950283;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr5 9207659 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=252;Dels=0.00;HRun=3;HaplotypeScore=6.70;MQ=98.84;MQ0=0;OQ=5990.25;QD=23.77;RankSumP=0.151395;SB=-2595.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1422C>G;refseq.codonCoord=474;refseq.end=9207659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2134;refseq.name=NM_003966;refseq.name2=SEMA5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G474G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-60;refseq.start=9207659;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr5 10292278 . C T 326.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.79;MQ0=0;OQ=15125.67;QD=40.66;RankSumP=1.00000;SB=-4694.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.207G>A;refseq.codonCoord=69;refseq.end=10292278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_199133;refseq.name2=FAM173B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P69P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-100;refseq.start=10292278;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr5 10307817 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=535;Dels=0.00;HRun=2;HaplotypeScore=3.90;MQ=98.82;MQ0=0;OQ=22034.65;QD=41.19;RankSumP=1.00000;SB=-9130.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.198A>G;refseq.codonCoord=66;refseq.end=10307817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_012073;refseq.name2=CCT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=32;refseq.start=10307817;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 10309161 . T C 405.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=6181.25;QD=36.15;RankSumP=1.00000;SB=-2176.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=10309161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=597;refseq.name=NM_012073;refseq.name2=CCT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R142R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=95;refseq.start=10309161;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr5 10335396 . A G 425.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=4953.95;QD=39.63;RankSumP=1.00000;SB=-1511.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.471T>C;refseq.codonCoord=157;refseq.end=10335396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_138809;refseq.name2=CMBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I157I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=10335396;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 10814182 . A G 114 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.81;MQ0=0;OQ=293.93;QD=36.74;RankSumP=1.00000;SB=-54.97;SecondBestBaseQ=0;refseq.chr=chr5;refseq.codingCoordStr=c.-2T>C;refseq.end=10814182;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=206;refseq.name=NM_004394;refseq.name2=DAP;refseq.positionType=utr5;refseq.spliceDist=-57;refseq.start=10814182;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 1/1 chr5 11026727 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=2;HaplotypeScore=5.02;MQ=98.47;MQ0=0;OQ=1685.10;QD=14.65;RankSumP=0.481689;SB=-567.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3516C>T;refseq.codonCoord=1172;refseq.end=11026727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3661;refseq.name=NM_001332;refseq.name2=CTNND2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1172F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=99;refseq.start=11026727;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr5 11164106 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.94855e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2327C>G;refseq.codonCoord=776;refseq.end=11164106;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2472;refseq.name=NM_001332;refseq.name2=CTNND2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A776G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=50;refseq.start=11164106;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 13754525 . T C 366.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.16;MQ0=0;OQ=2479.45;QD=36.46;RankSumP=1.00000;SB=-1197.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.13359A>G;refseq.codonCoord=4453;refseq.end=13754525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13401;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4453T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=21;refseq.start=13754525;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 13754536 . T C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.17;MQ0=0;OQ=2582.46;QD=39.13;RankSumP=1.00000;SB=-1033.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.13348A>G;refseq.codonCoord=4450;refseq.end=13754536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13390;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4450V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=13754536;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr5 13772022 . T G 219.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=8.81;MQ=98.76;MQ0=0;OQ=15049.13;QD=41.12;RankSumP=1.00000;SB=-4824.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.12468A>C;refseq.codonCoord=4156;refseq.end=13772022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12510;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4156G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-32;refseq.start=13772022;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr5 13772089 . G A 180.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=351;Dels=0.00;HRun=1;HaplotypeScore=9.04;MQ=98.61;MQ0=0;OQ=14154.44;QD=40.33;RankSumP=1.00000;SB=-5910.62;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.12401C>T;refseq.codonCoord=4134;refseq.end=13772089;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12443;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4134V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-99;refseq.start=13772089;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr5 13864775 . T C 355.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=98.49;MQ0=0;OQ=5281.39;QD=20.08;RankSumP=0.340880;SB=-1622.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.7388A>G;refseq.codonCoord=2463;refseq.end=13864775;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7430;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2463R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-20;refseq.start=13864775;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr5 13882799 . G A 190.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.69;MQ0=0;OQ=2038.23;QD=13.96;RankSumP=0.470500;SB=-560.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.6264C>T;refseq.codonCoord=2088;refseq.end=13882799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6306;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2088A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=15;refseq.start=13882799;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 13898045 . G A 152.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=99.00;MQ0=0;OQ=1288.27;QD=14.47;RankSumP=0.397143;SB=-457.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5172C>T;refseq.codonCoord=1724;refseq.end=13898045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5214;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1724A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=58;refseq.start=13898045;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 13917728 . C A 312.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=98.86;MQ0=0;OQ=5315.69;QD=16.06;RankSumP=0.225032;SB=-1528.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4374G>T;refseq.codonCoord=1458;refseq.end=13917728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4416;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1458R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=19;refseq.start=13917728;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr5 13918980 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.83;MQ0=0;OQ=750.51;QD=13.17;RankSumP=0.378284;SB=-282.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4152A>G;refseq.codonCoord=1384;refseq.end=13918980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4194;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1384T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=36;refseq.start=13918980;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr5 13935841 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.22;MQ0=0;OQ=779.20;QD=16.94;RankSumP=0.646853;SB=-218.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3258T>C;refseq.codonCoord=1086;refseq.end=13935841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1086L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=13935841;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr5 13947894 . T A 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=508;Dels=0.00;HRun=1;HaplotypeScore=14.40;MQ=98.77;MQ0=0;OQ=19877.82;QD=39.13;RankSumP=1.00000;SB=-8625.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2296A>T;refseq.codonCoord=766;refseq.end=13947894;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2338;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I766L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=37;refseq.start=13947894;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr5 13997512 . A C 454.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.36;MQ0=0;OQ=4341.90;QD=40.20;RankSumP=1.00000;SB=-1852.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.36T>G;refseq.codonCoord=12;refseq.end=13997512;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_001369;refseq.name2=DNAH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H12Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-22;refseq.start=13997512;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 14440867 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3792T>C;refseq.codonCoord=1264;refseq.end=14440867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3798;refseq.name=NM_007118;refseq.name2=TRIO;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1264I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=27;refseq.start=14440867;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr5 14473027 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=98.66;MQ0=0;OQ=1080.62;QD=16.13;RankSumP=0.233094;SB=-382.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5100A>C;refseq.codonCoord=1700;refseq.end=14473027;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5106;refseq.name=NM_007118;refseq.name2=TRIO;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1700T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-104;refseq.start=14473027;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr5 14822103 . G A 157.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=95.40;MQ0=0;OQ=1328.37;QD=14.60;RankSumP=0.234634;SB=-434.92;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.294C>T;refseq.codonCoord=98;refseq.end=14822103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_054027;refseq.name2=ANKH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A98A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-20;refseq.start=14822103;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 16531200 . G A 235.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=98.89;MQ0=0;OQ=1380.92;QD=20.61;RankSumP=0.558688;SB=-699.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.816C>T;refseq.codingCoordStr_2=c.393C>T;refseq.codonCoord_1=272;refseq.codonCoord_2=131;refseq.end_1=16531200;refseq.end_2=16531200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=854;refseq.mrnaCoord_2=703;refseq.name2_1=FAM134B;refseq.name2_2=FAM134B;refseq.name_1=NM_001034850;refseq.name_2=NM_019000;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D272D;refseq.proteinCoordStr_2=p.D131D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=16531200;refseq.start_2=16531200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr5 19626931 . A G 255.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.75;MQ0=0;OQ=4706.60;QD=21.20;RankSumP=0.172392;SB=-822.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.991T>C;refseq.codingCoordStr_2=c.991T>C;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=19626931;refseq.end_2=19626931;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1525;refseq.mrnaCoord_2=1525;refseq.name2_1=CDH18;refseq.name2_2=CDH18;refseq.name_1=NM_001167667;refseq.name_2=NM_004934;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L331L;refseq.proteinCoordStr_2=p.L331L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=19626931;refseq.start_2=19626931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr5 19757247 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.37;MQ0=0;OQ=3450.29;QD=39.21;RankSumP=1.00000;SB=-1187.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.609A>G;refseq.codingCoordStr_2=c.609A>G;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.end_1=19757247;refseq.end_2=19757247;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1143;refseq.mrnaCoord_2=1143;refseq.name2_1=CDH18;refseq.name2_2=CDH18;refseq.name_1=NM_001167667;refseq.name_2=NM_004934;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q203Q;refseq.proteinCoordStr_2=p.Q203Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=19757247;refseq.start_2=19757247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr5 21787807 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=333;Dels=0.00;HRun=2;HaplotypeScore=11.26;MQ=98.83;MQ0=0;OQ=12728.85;QD=38.22;RankSumP=1.00000;SB=-6205.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2181T>C;refseq.codonCoord=727;refseq.end=21787807;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3268;refseq.name=NM_004061;refseq.name2=CDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D727D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=296;refseq.start=21787807;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr5 21787813 . A G 198.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=98.83;MQ0=0;OQ=12285.37;QD=35.61;RankSumP=1.00000;SB=-5787.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2175T>C;refseq.codonCoord=725;refseq.end=21787813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3262;refseq.name=NM_004061;refseq.name2=CDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D725D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=290;refseq.start=21787813;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr5 23562924 . G C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1970G>C;refseq.codonCoord=657;refseq.end=23562924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2152;refseq.name=NM_020227;refseq.name2=PRDM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R657T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=826;refseq.start=23562924;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 0/1 chr5 23562996 . C G 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=529;Dels=0.00;HRun=0;HaplotypeScore=22.70;MQ=11.84;MQ0=424;OQ=2602.81;QD=4.92;RankSumP=0.601752;SB=-970.27;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2042C>G;refseq.codonCoord=681;refseq.end=23562996;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2224;refseq.name=NM_020227;refseq.name2=PRDM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T681S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=898;refseq.start=23562996;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr5 23563145 . A G 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.629167;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2191A>G;refseq.codonCoord=731;refseq.end=23563145;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2373;refseq.name=NM_020227;refseq.name2=PRDM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N731D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1047;refseq.start=23563145;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr5 23563417 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.105025;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2463A>T;refseq.codonCoord=821;refseq.end=23563417;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2645;refseq.name=NM_020227;refseq.name2=PRDM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R821S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1047;refseq.start=23563417;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 0/1 chr5 23563478 . C A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.438613;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2524C>A;refseq.codonCoord=842;refseq.end=23563478;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2706;refseq.name=NM_020227;refseq.name2=PRDM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R842S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-986;refseq.start=23563478;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 1/0 chr5 26942616 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.612A>C;refseq.codonCoord=204;refseq.end=26942616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_016279;refseq.name2=CDH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G204G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-32;refseq.start=26942616;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr5 31329826 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=134;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.56;MQ0=0;OQ=2327.98;QD=17.37;RankSumP=0.359821;SB=-717.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.229T>C;refseq.codonCoord=77;refseq.end=31329826;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_004932;refseq.name2=CDH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L77L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=31329826;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr5 31338045 . C T 309.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.92;MQ0=0;OQ=4200.07;QD=18.83;RankSumP=0.251939;SB=-1321.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.882C>T;refseq.codonCoord=294;refseq.end=31338045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1208;refseq.name=NM_004932;refseq.name2=CDH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D294D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=71;refseq.start=31338045;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr5 31353251 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=10.62;MQ=98.82;MQ0=0;OQ=2741.27;QD=11.42;RankSumP=0.0440558;SB=-744.34;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1525C>T;refseq.codonCoord=509;refseq.end=31353251;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1851;refseq.name=NM_004932;refseq.name2=CDH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L509L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=13;refseq.start=31353251;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr5 31353286 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=310;Dels=0.00;HRun=2;HaplotypeScore=8.94;MQ=98.81;MQ0=0;OQ=4173.52;QD=13.46;RankSumP=0.372343;SB=-361.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1560A>G;refseq.codonCoord=520;refseq.end=31353286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1886;refseq.name=NM_004932;refseq.name2=CDH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G520G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=48;refseq.start=31353286;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr5 31353709 . T C 267.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.72;MQ=98.94;MQ0=0;OQ=4270.78;QD=20.63;RankSumP=0.106847;SB=-785.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1803T>C;refseq.codonCoord=601;refseq.end=31353709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2129;refseq.name=NM_004932;refseq.name2=CDH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H601H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-80;refseq.start=31353709;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr5 31574449 . A C 289.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2376.02;QD=40.27;RankSumP=1.00000;SB=-1010.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.703A>C;refseq.codonCoord=235;refseq.end=31574449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_018356;refseq.name2=C5orf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.T235P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-105;refseq.start=31574449;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr5 32093872 . A G 269.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=2.72;MQ=98.83;MQ0=0;OQ=5728.15;QD=35.80;RankSumP=1.00000;SB=-2753.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2106A>G;refseq.codonCoord=702;refseq.end=32093872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2431;refseq.name=NM_178140;refseq.name2=PDZD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S702S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-95;refseq.start=32093872;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 32123649 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.21;MQ0=0;OQ=473.63;QD=8.94;RankSumP=0.609737;SB=-143.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4338G>C;refseq.codonCoord=1446;refseq.end=32123649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4663;refseq.name=NM_178140;refseq.name2=PDZD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1446T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=656;refseq.start=32123649;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr5 32126181 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.6870T>C;refseq.codonCoord=2290;refseq.end=32126181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7195;refseq.name=NM_178140;refseq.name2=PDZD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2290L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-858;refseq.start=32126181;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr5 32265709 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=9.22559e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2176A>G;refseq.codonCoord=726;refseq.end=32265709;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2346;refseq.name=NM_001040446;refseq.name2=MTMR12;refseq.positionType=CDS;refseq.proteinCoordStr=p.K726E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=502;refseq.start=32265709;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr5 32439103 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=695;Dels=0.00;HRun=1;HaplotypeScore=16.94;MQ=98.89;MQ0=0;OQ=29790.41;QD=42.86;RankSumP=1.00000;SB=-13348.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1381G>A;refseq.codonCoord=461;refseq.end=32439103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_016107;refseq.name2=ZFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.V461I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-136;refseq.start=32439103;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr5 32450973 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.642A>C;refseq.codonCoord=214;refseq.end=32450973;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_016107;refseq.name2=ZFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.K214N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=77;refseq.start=32450973;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr5 32825609 . T C 333.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=12.10;MQ=98.71;MQ0=0;OQ=7428.38;QD=18.03;RankSumP=0.239949;SB=-2559.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.345T>C;refseq.codonCoord=115;refseq.end=32825609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_024563;refseq.name2=C5orf23;refseq.positionType=CDS;refseq.proteinCoordStr=p.N115N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=908;refseq.start=32825609;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr5 33497774 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=223;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.97;MQ0=0;OQ=4653.17;QD=20.87;RankSumP=0.482003;SB=-1066.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1636A>G;refseq.codonCoord=546;refseq.end=33497774;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1931;refseq.name=NM_152295;refseq.name2=TARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I546V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=33497774;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr5 33497791 . G A 210.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=8.77;MQ=98.84;MQ0=0;OQ=4732.76;QD=16.66;RankSumP=0.403704;SB=-1459.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1653G>A;refseq.codonCoord=551;refseq.end=33497791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1948;refseq.name=NM_152295;refseq.name2=TARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A551A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=24;refseq.start=33497791;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr5 33570817 . G A 187.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=98.76;MQ0=0;OQ=6260.86;QD=20.87;RankSumP=0.308397;SB=-2618.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4484C>T;refseq.codonCoord=1495;refseq.end=33570817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4647;refseq.name=NM_030955;refseq.name2=ADAMTS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1495I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=38;refseq.start=33570817;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr5 33581964 . T C 155.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.44;MQ0=0;OQ=8662.21;QD=21.71;RankSumP=0.181826;SB=-3621.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4403A>G;refseq.codonCoord=1468;refseq.end=33581964;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4566;refseq.name=NM_030955;refseq.name2=ADAMTS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1468S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-44;refseq.start=33581964;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr5 33585085 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4286T>G;refseq.codonCoord=1429;refseq.end=33585085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4449;refseq.name=NM_030955;refseq.name2=ADAMTS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1429G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-17;refseq.start=33585085;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 33585144 . G A 267.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=6.48;MQ=98.79;MQ0=0;OQ=6593.54;QD=19.68;RankSumP=0.0438848;SB=-1788.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4227C>T;refseq.codonCoord=1409;refseq.end=33585144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4390;refseq.name=NM_030955;refseq.name2=ADAMTS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1409A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-76;refseq.start=33585144;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 33973857 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1255A>C;refseq.codonCoord=419;refseq.end=33973857;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_016568;refseq.name2=RXFP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T419P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-924;refseq.start=33973857;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 33987450 . C G 221.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3929.58;QD=47.92;RankSumP=1.00000;SB=-1600.63;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1122G>C;refseq.codingCoordStr_2=c.1122G>C;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=33987450;refseq.end_2=33987450;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1214;refseq.mrnaCoord_2=1214;refseq.name2_1=SLC45A2;refseq.name2_2=SLC45A2;refseq.name_1=NM_001012509;refseq.name_2=NM_016180;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L374F;refseq.proteinCoordStr_2=p.L374F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=33987450;refseq.start_2=33987450;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr5 33990268 . T C 259.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=4.73;MQ=98.89;MQ0=0;OQ=10440.77;QD=37.02;RankSumP=1.00000;SB=-4597.81;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.987A>G;refseq.codingCoordStr_2=c.987A>G;refseq.codonCoord_1=329;refseq.codonCoord_2=329;refseq.end_1=33990268;refseq.end_2=33990268;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1079;refseq.mrnaCoord_2=1079;refseq.name2_1=SLC45A2;refseq.name2_2=SLC45A2;refseq.name_1=NM_001012509;refseq.name_2=NM_016180;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T329T;refseq.proteinCoordStr_2=p.T329T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=33990268;refseq.start_2=33990268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr5 34025275 . C T 277.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.92;MQ0=0;OQ=11534.28;QD=42.88;RankSumP=1.00000;SB=-4273.94;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.829G>A;refseq.codingCoordStr_2=c.829G>A;refseq.codingCoordStr_3=c.*71G>A;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.end_1=34025275;refseq.end_2=34025275;refseq.end_3=34025275;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=925;refseq.mrnaCoord_2=925;refseq.mrnaCoord_3=764;refseq.name2_1=AMACR;refseq.name2_2=AMACR;refseq.name2_3=AMACR;refseq.name_1=NM_001167595;refseq.name_2=NM_014324;refseq.name_3=NM_203382;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.E277K;refseq.proteinCoordStr_2=p.E277K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.start_1=34025275;refseq.start_2=34025275;refseq.start_3=34025275;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr5 34034525 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=448.23;QD=13.58;RankSumP=0.114041;SB=-25.90;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.717G>T;refseq.codingCoordStr_2=c.717G>T;refseq.codingCoordStr_3=c.556G>T;refseq.codingCoordStr_4=c.717G>T;refseq.codingCoordStr_5=c.717G>T;refseq.codingCoordStr_6=c.556G>T;refseq.codonCoord_1=239;refseq.codonCoord_2=239;refseq.codonCoord_3=186;refseq.codonCoord_4=239;refseq.codonCoord_5=239;refseq.codonCoord_6=186;refseq.end_1=34034525;refseq.end_2=34034525;refseq.end_3=34034525;refseq.end_4=34034525;refseq.end_5=34034525;refseq.end_6=34034525;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=0;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=813;refseq.mrnaCoord_2=813;refseq.mrnaCoord_3=652;refseq.mrnaCoord_4=813;refseq.mrnaCoord_5=813;refseq.mrnaCoord_6=652;refseq.name2_1=AMACR;refseq.name2_2=AMACR;refseq.name2_3=AMACR;refseq.name2_4=AMACR;refseq.name2_5=AMACR;refseq.name2_6=AMACR;refseq.name_1=NM_001167595;refseq.name_2=NM_001167596;refseq.name_3=NM_001167597;refseq.name_4=NM_001167598;refseq.name_5=NM_014324;refseq.name_6=NM_203382;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Q239H;refseq.proteinCoordStr_2=p.Q239H;refseq.proteinCoordStr_3=p.V186F;refseq.proteinCoordStr_4=p.Q239H;refseq.proteinCoordStr_5=p.Q239H;refseq.proteinCoordStr_6=p.V186F;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Val;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Val;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=GTT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.spliceDist_4=-23;refseq.spliceDist_5=-23;refseq.spliceDist_6=-23;refseq.start_1=34034525;refseq.start_2=34034525;refseq.start_3=34034525;refseq.start_4=34034525;refseq.start_5=34034525;refseq.start_6=34034525;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=Phe;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=Phe;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=CAT;refseq.variantCodon_5=CAT;refseq.variantCodon_6=TTT;set=Intersection GT 1/0 chr5 34034640 . A G 412.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=5673.88;QD=39.40;RankSumP=1.00000;SB=-2700.13;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=false;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.602T>C;refseq.codingCoordStr_2=c.602T>C;refseq.codingCoordStr_3=c.441T>C;refseq.codingCoordStr_4=c.602T>C;refseq.codingCoordStr_5=c.602T>C;refseq.codingCoordStr_6=c.441T>C;refseq.codonCoord_1=201;refseq.codonCoord_2=201;refseq.codonCoord_3=147;refseq.codonCoord_4=201;refseq.codonCoord_5=201;refseq.codonCoord_6=147;refseq.end_1=34034640;refseq.end_2=34034640;refseq.end_3=34034640;refseq.end_4=34034640;refseq.end_5=34034640;refseq.end_6=34034640;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=2;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=silent;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=698;refseq.mrnaCoord_2=698;refseq.mrnaCoord_3=537;refseq.mrnaCoord_4=698;refseq.mrnaCoord_5=698;refseq.mrnaCoord_6=537;refseq.name2_1=AMACR;refseq.name2_2=AMACR;refseq.name2_3=AMACR;refseq.name2_4=AMACR;refseq.name2_5=AMACR;refseq.name2_6=AMACR;refseq.name_1=NM_001167595;refseq.name_2=NM_001167596;refseq.name_3=NM_001167597;refseq.name_4=NM_001167598;refseq.name_5=NM_014324;refseq.name_6=NM_203382;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L201S;refseq.proteinCoordStr_2=p.L201S;refseq.proteinCoordStr_3=p.I147I;refseq.proteinCoordStr_4=p.L201S;refseq.proteinCoordStr_5=p.L201S;refseq.proteinCoordStr_6=p.I147I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_6=ATT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.spliceDist_5=50;refseq.spliceDist_6=50;refseq.start_1=34034640;refseq.start_2=34034640;refseq.start_3=34034640;refseq.start_4=34034640;refseq.start_5=34034640;refseq.start_6=34034640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ile;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ile;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=ATC;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;refseq.variantCodon_6=ATC;set=Intersection GT 1/1 chr5 34040464 . C T 165.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.94;MQ0=0;OQ=791.16;QD=17.20;RankSumP=0.678286;SB=-44.64;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_3=c.524G>A;refseq.codingCoordStr_4=c.524G>A;refseq.codingCoordStr_5=c.524G>A;refseq.codingCoordStr_6=c.524G>A;refseq.codonCoord_3=175;refseq.codonCoord_4=175;refseq.codonCoord_5=175;refseq.codonCoord_6=175;refseq.end_1=34041607;refseq.end_2=34041607;refseq.end_3=34040464;refseq.end_4=34040464;refseq.end_5=34040464;refseq.end_6=34040464;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=620;refseq.mrnaCoord_4=620;refseq.mrnaCoord_5=620;refseq.mrnaCoord_6=620;refseq.name2_1=AMACR;refseq.name2_2=AMACR;refseq.name2_3=AMACR;refseq.name2_4=AMACR;refseq.name2_5=AMACR;refseq.name2_6=AMACR;refseq.name_1=NM_001167597;refseq.name_2=NM_203382;refseq.name_3=NM_001167595;refseq.name_4=NM_001167596;refseq.name_5=NM_001167598;refseq.name_6=NM_014324;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.G175D;refseq.proteinCoordStr_4=p.G175D;refseq.proteinCoordStr_5=p.G175D;refseq.proteinCoordStr_6=p.G175D;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.spliceDist_5=-29;refseq.spliceDist_6=-29;refseq.start_1=34034700;refseq.start_2=34034700;refseq.start_3=34040464;refseq.start_4=34040464;refseq.start_5=34040464;refseq.start_6=34040464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;set=Intersection GT 0/1 chr5 34043857 . C T 118.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.06;MQ0=0;OQ=1331.32;QD=12.33;RankSumP=0.377087;SB=-578.85;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.25G>A;refseq.codingCoordStr_2=c.25G>A;refseq.codingCoordStr_3=c.25G>A;refseq.codingCoordStr_4=c.25G>A;refseq.codingCoordStr_5=c.25G>A;refseq.codingCoordStr_6=c.25G>A;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.codonCoord_3=9;refseq.codonCoord_4=9;refseq.codonCoord_5=9;refseq.codonCoord_6=9;refseq.end_1=34043857;refseq.end_2=34043857;refseq.end_3=34043857;refseq.end_4=34043857;refseq.end_5=34043857;refseq.end_6=34043857;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=121;refseq.mrnaCoord_2=121;refseq.mrnaCoord_3=121;refseq.mrnaCoord_4=121;refseq.mrnaCoord_5=121;refseq.mrnaCoord_6=121;refseq.name2_1=AMACR;refseq.name2_2=AMACR;refseq.name2_3=AMACR;refseq.name2_4=AMACR;refseq.name2_5=AMACR;refseq.name2_6=AMACR;refseq.name_1=NM_001167595;refseq.name_2=NM_001167596;refseq.name_3=NM_001167597;refseq.name_4=NM_001167598;refseq.name_5=NM_014324;refseq.name_6=NM_203382;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V9M;refseq.proteinCoordStr_2=p.V9M;refseq.proteinCoordStr_3=p.V9M;refseq.proteinCoordStr_4=p.V9M;refseq.proteinCoordStr_5=p.V9M;refseq.proteinCoordStr_6=p.V9M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.spliceDist_3=121;refseq.spliceDist_4=121;refseq.spliceDist_5=121;refseq.spliceDist_6=121;refseq.start_1=34043857;refseq.start_2=34043857;refseq.start_3=34043857;refseq.start_4=34043857;refseq.start_5=34043857;refseq.start_6=34043857;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantAA_6=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;refseq.variantCodon_6=ATG;set=Intersection GT 0/1 chr5 34843685 . C T 302.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.41;MQ0=0;OQ=14023.92;QD=42.76;RankSumP=1.00000;SB=-4740.19;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.345C>T;refseq.codingCoordStr_2=c.345C>T;refseq.codingCoordStr_3=c.345C>T;refseq.codingCoordStr_4=c.321C>T;refseq.codingCoordStr_5=c.354C>T;refseq.codingCoordStr_6=c.345C>T;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.codonCoord_3=115;refseq.codonCoord_4=107;refseq.codonCoord_5=118;refseq.codonCoord_6=115;refseq.end_1=34843685;refseq.end_2=34843685;refseq.end_3=34843685;refseq.end_4=34843685;refseq.end_5=34843685;refseq.end_6=34843685;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=599;refseq.mrnaCoord_2=712;refseq.mrnaCoord_3=541;refseq.mrnaCoord_4=473;refseq.mrnaCoord_5=893;refseq.mrnaCoord_6=541;refseq.name2_1=RAI14;refseq.name2_2=RAI14;refseq.name2_3=RAI14;refseq.name2_4=RAI14;refseq.name2_5=RAI14;refseq.name2_6=RAI14;refseq.name_1=NM_001145520;refseq.name_2=NM_001145521;refseq.name_3=NM_001145522;refseq.name_4=NM_001145523;refseq.name_5=NM_001145525;refseq.name_6=NM_015577;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V115V;refseq.proteinCoordStr_2=p.V115V;refseq.proteinCoordStr_3=p.V115V;refseq.proteinCoordStr_4=p.V107V;refseq.proteinCoordStr_5=p.V118V;refseq.proteinCoordStr_6=p.V115V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.referenceCodon_6=GTC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.spliceDist_6=24;refseq.start_1=34843685;refseq.start_2=34843685;refseq.start_3=34843685;refseq.start_4=34843685;refseq.start_5=34843685;refseq.start_6=34843685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;set=Intersection GT 1/1 chr5 34846894 . T G 221.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=4.83;MQ=98.82;MQ0=0;OQ=7069.89;QD=41.83;RankSumP=1.00000;SB=-2529.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.471T>G;refseq.codingCoordStr_2=c.471T>G;refseq.codingCoordStr_3=c.471T>G;refseq.codingCoordStr_4=c.447T>G;refseq.codingCoordStr_5=c.480T>G;refseq.codingCoordStr_6=c.471T>G;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.codonCoord_3=157;refseq.codonCoord_4=149;refseq.codonCoord_5=160;refseq.codonCoord_6=157;refseq.end_1=34846894;refseq.end_2=34846894;refseq.end_3=34846894;refseq.end_4=34846894;refseq.end_5=34846894;refseq.end_6=34846894;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=725;refseq.mrnaCoord_2=838;refseq.mrnaCoord_3=667;refseq.mrnaCoord_4=599;refseq.mrnaCoord_5=1019;refseq.mrnaCoord_6=667;refseq.name2_1=RAI14;refseq.name2_2=RAI14;refseq.name2_3=RAI14;refseq.name2_4=RAI14;refseq.name2_5=RAI14;refseq.name2_6=RAI14;refseq.name_1=NM_001145520;refseq.name_2=NM_001145521;refseq.name_3=NM_001145522;refseq.name_4=NM_001145523;refseq.name_5=NM_001145525;refseq.name_6=NM_015577;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L157L;refseq.proteinCoordStr_2=p.L157L;refseq.proteinCoordStr_3=p.L157L;refseq.proteinCoordStr_4=p.L149L;refseq.proteinCoordStr_5=p.L160L;refseq.proteinCoordStr_6=p.L157L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=CTT;refseq.referenceCodon_5=CTT;refseq.referenceCodon_6=CTT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.spliceDist_5=21;refseq.spliceDist_6=21;refseq.start_1=34846894;refseq.start_2=34846894;refseq.start_3=34846894;refseq.start_4=34846894;refseq.start_5=34846894;refseq.start_6=34846894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;set=Intersection GT 1/1 chr5 34860312 . G T 206.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=1608.99;QD=39.24;RankSumP=1.00000;SB=-695.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.2608G>T;refseq.codingCoordStr_2=c.2608G>T;refseq.codingCoordStr_3=c.2521G>T;refseq.codingCoordStr_4=c.2584G>T;refseq.codingCoordStr_5=c.2617G>T;refseq.codingCoordStr_6=c.2608G>T;refseq.codonCoord_1=870;refseq.codonCoord_2=870;refseq.codonCoord_3=841;refseq.codonCoord_4=862;refseq.codonCoord_5=873;refseq.codonCoord_6=870;refseq.end_1=34860312;refseq.end_2=34860312;refseq.end_3=34860312;refseq.end_4=34860312;refseq.end_5=34860312;refseq.end_6=34860312;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2862;refseq.mrnaCoord_2=2975;refseq.mrnaCoord_3=2717;refseq.mrnaCoord_4=2736;refseq.mrnaCoord_5=3156;refseq.mrnaCoord_6=2804;refseq.name2_1=RAI14;refseq.name2_2=RAI14;refseq.name2_3=RAI14;refseq.name2_4=RAI14;refseq.name2_5=RAI14;refseq.name2_6=RAI14;refseq.name_1=NM_001145520;refseq.name_2=NM_001145521;refseq.name_3=NM_001145522;refseq.name_4=NM_001145523;refseq.name_5=NM_001145525;refseq.name_6=NM_015577;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A870S;refseq.proteinCoordStr_2=p.A870S;refseq.proteinCoordStr_3=p.A841S;refseq.proteinCoordStr_4=p.A862S;refseq.proteinCoordStr_5=p.A873S;refseq.proteinCoordStr_6=p.A870S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.spliceDist_5=-42;refseq.spliceDist_6=-42;refseq.start_1=34860312;refseq.start_2=34860312;refseq.start_3=34860312;refseq.start_4=34860312;refseq.start_5=34860312;refseq.start_6=34860312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;set=Intersection GT 1/1 chr5 34862238 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_1=c.2696A>C;refseq.codingCoordStr_2=c.2696A>C;refseq.codingCoordStr_3=c.2609A>C;refseq.codingCoordStr_4=c.2672A>C;refseq.codingCoordStr_5=c.2705A>C;refseq.codingCoordStr_6=c.2696A>C;refseq.codonCoord_1=899;refseq.codonCoord_2=899;refseq.codonCoord_3=870;refseq.codonCoord_4=891;refseq.codonCoord_5=902;refseq.codonCoord_6=899;refseq.end_1=34862238;refseq.end_2=34862238;refseq.end_3=34862238;refseq.end_4=34862238;refseq.end_5=34862238;refseq.end_6=34862238;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2950;refseq.mrnaCoord_2=3063;refseq.mrnaCoord_3=2805;refseq.mrnaCoord_4=2824;refseq.mrnaCoord_5=3244;refseq.mrnaCoord_6=2892;refseq.name2_1=RAI14;refseq.name2_2=RAI14;refseq.name2_3=RAI14;refseq.name2_4=RAI14;refseq.name2_5=RAI14;refseq.name2_6=RAI14;refseq.name_1=NM_001145520;refseq.name_2=NM_001145521;refseq.name_3=NM_001145522;refseq.name_4=NM_001145523;refseq.name_5=NM_001145525;refseq.name_6=NM_015577;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.N899T;refseq.proteinCoordStr_2=p.N899T;refseq.proteinCoordStr_3=p.N870T;refseq.proteinCoordStr_4=p.N891T;refseq.proteinCoordStr_5=p.N902T;refseq.proteinCoordStr_6=p.N899T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.spliceDist_4=47;refseq.spliceDist_5=47;refseq.spliceDist_6=47;refseq.start_1=34862238;refseq.start_2=34862238;refseq.start_3=34862238;refseq.start_4=34862238;refseq.start_5=34862238;refseq.start_6=34862238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;set=FilteredInAll GT 0/1 chr5 35034634 . C A 256.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=1;HaplotypeScore=6.66;MQ=98.82;MQ0=0;OQ=5296.24;QD=20.14;RankSumP=0.359250;SB=-2078.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1492G>T;refseq.codonCoord=498;refseq.end=35034634;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1571;refseq.name=NM_031900;refseq.name2=AGXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V498L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=55;refseq.start=35034634;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr5 35045895 . A G 319.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=4705.25;QD=40.22;RankSumP=1.00000;SB=-1857.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1305T>C;refseq.codonCoord=435;refseq.end=35045895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1384;refseq.name=NM_031900;refseq.name2=AGXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G435G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-34;refseq.start=35045895;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr5 35069362 . G A 441.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.39;MQ0=0;OQ=5053.01;QD=41.08;RankSumP=1.00000;SB=-1609.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.635C>T;refseq.codonCoord=212;refseq.end=35069362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_031900;refseq.name2=AGXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T212I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-41;refseq.start=35069362;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 35072872 . C T 345.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.86;MQ0=0;OQ=6084.85;QD=41.39;RankSumP=1.00000;SB=-1058.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.418G>A;refseq.codonCoord=140;refseq.end=35072872;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_031900;refseq.name2=AGXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V140I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=56;refseq.start=35072872;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 35075243 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=4.73;MQ=99.00;MQ0=0;OQ=993.78;QD=16.29;RankSumP=0.180450;SB=-386.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.305G>A;refseq.codonCoord=102;refseq.end=35075243;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_031900;refseq.name2=AGXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-58;refseq.start=35075243;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 35677339 . A C 306.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=3.40;MQ=98.90;MQ0=0;OQ=4194.13;QD=16.26;RankSumP=0.201465;SB=-1382.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.211A>C;refseq.codingCoordStr_2=c.211A>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=35677339;refseq.end_2=35677339;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=322;refseq.mrnaCoord_2=322;refseq.name2_1=SPEF2;refseq.name2_2=SPEF2;refseq.name_1=NM_024867;refseq.name_2=NM_144722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N71H;refseq.proteinCoordStr_2=p.N71H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=35677339;refseq.start_2=35677339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr5 35680378 . T C 227.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1624.21;QD=20.05;RankSumP=0.0988993;SB=-710.68;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.579T>C;refseq.codingCoordStr_2=c.579T>C;refseq.codonCoord_1=193;refseq.codonCoord_2=193;refseq.end_1=35680378;refseq.end_2=35680378;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=690;refseq.name2_1=SPEF2;refseq.name2_2=SPEF2;refseq.name_1=NM_024867;refseq.name_2=NM_144722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I193I;refseq.proteinCoordStr_2=p.I193I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=35680378;refseq.start_2=35680378;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr5 35690468 . C T 355.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=98.79;MQ0=0;OQ=6083.85;QD=19.56;RankSumP=0.106484;SB=-2146.49;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.861C>T;refseq.codingCoordStr_2=c.861C>T;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=35690468;refseq.end_2=35690468;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=972;refseq.mrnaCoord_2=972;refseq.name2_1=SPEF2;refseq.name2_2=SPEF2;refseq.name_1=NM_024867;refseq.name_2=NM_144722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D287D;refseq.proteinCoordStr_2=p.D287D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=35690468;refseq.start_2=35690468;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr5 35736355 . T C 336.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=98.73;MQ0=0;OQ=4352.50;QD=20.83;RankSumP=0.408758;SB=-1513.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2142T>C;refseq.codonCoord=714;refseq.end=35736355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2253;refseq.name=NM_024867;refseq.name2=SPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N714N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=35736355;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr5 35741601 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=805.77;QD=16.12;RankSumP=0.445227;SB=-260.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2599A>C;refseq.codonCoord=867;refseq.end=35741601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2710;refseq.name=NM_024867;refseq.name2=SPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K867Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-67;refseq.start=35741601;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr5 35744852 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=4.13;MQ=98.84;MQ0=0;OQ=1145.55;QD=13.17;RankSumP=0.213733;SB=-442.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2711C>T;refseq.codonCoord=904;refseq.end=35744852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2822;refseq.name=NM_024867;refseq.name2=SPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A904V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=46;refseq.start=35744852;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr5 35744941 . G C 125.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.73;MQ0=0;OQ=2374.23;QD=21.78;RankSumP=0.267001;SB=-897.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2800G>C;refseq.codonCoord=934;refseq.end=35744941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2911;refseq.name=NM_024867;refseq.name2=SPEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A934P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-40;refseq.start=35744941;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr5 35896825 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=585;Dels=0.00;HRun=1;HaplotypeScore=12.09;MQ=98.75;MQ0=0;OQ=24134.35;QD=41.26;RankSumP=1.00000;SB=-9723.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.197T>C;refseq.codonCoord=66;refseq.end=35896825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_002185;refseq.name2=IL7R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I66T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-25;refseq.start=35896825;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr5 35906947 . G A 386.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=8880.79;QD=41.31;RankSumP=1.00000;SB=-3582.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.412G>A;refseq.codonCoord=138;refseq.end=35906947;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_002185;refseq.name2=IL7R;refseq.positionType=CDS;refseq.proteinCoordStr=p.V138I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=33;refseq.start=35906947;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 35910332 . C T 217.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=17.52;MQ=98.71;MQ0=0;OQ=9487.94;QD=18.14;RankSumP=0.247295;SB=-3402.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.731C>T;refseq.codonCoord=244;refseq.end=35910332;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_002185;refseq.name2=IL7R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T244I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=25;refseq.start=35910332;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 35912031 . A G 299.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=6.87;MQ=98.91;MQ0=0;OQ=3983.14;QD=15.62;RankSumP=0.191335;SB=-1377.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1066A>G;refseq.codonCoord=356;refseq.end=35912031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_002185;refseq.name2=IL7R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I356V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=190;refseq.start=35912031;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr5 35946286 . C T 166.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.77;MQ0=0;OQ=2880.04;QD=13.91;RankSumP=0.356214;SB=-696.39;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.254G>A;refseq.codingCoordStr_2=c.254G>A;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=35946286;refseq.end_2=35946286;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=349;refseq.mrnaCoord_2=381;refseq.name2_1=CAPSL;refseq.name2_2=CAPSL;refseq.name_1=NM_001042625;refseq.name_2=NM_144647;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R85Q;refseq.proteinCoordStr_2=p.R85Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=35946286;refseq.start_2=35946286;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr5 35990266 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1367T>G;refseq.codonCoord=456;refseq.end=35990266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1560;refseq.name=NM_152404;refseq.name2=UGT3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V456G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=72;refseq.start=35990266;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 36071762 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.1265T>G;refseq.codingCoordStr_3=c.1367T>G;refseq.codonCoord_2=422;refseq.codonCoord_3=456;refseq.end_1=36071762;refseq.end_2=36071762;refseq.end_3=36071762;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=967;refseq.mrnaCoord_2=1397;refseq.mrnaCoord_3=1499;refseq.name2_1=UGT3A2;refseq.name2_2=UGT3A2;refseq.name2_3=UGT3A2;refseq.name_1=NR_031764;refseq.name_2=NM_001168316;refseq.name_3=NM_174914;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V422G;refseq.proteinCoordStr_3=p.V456G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.start_1=36071762;refseq.start_2=36071762;refseq.start_3=36071762;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr5 36178405 . A G 345.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=98.87;MQ0=0;OQ=8349.41;QD=19.79;RankSumP=0.136016;SB=-2561.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=36178405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_001007527;refseq.name2=LMBRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N76N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-45;refseq.start=36178405;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 36179149 . C T 170.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.58;MQ0=0;OQ=1966.97;QD=13.85;RankSumP=0.302783;SB=-943.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.60G>A;refseq.codonCoord=20;refseq.end=36179149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_001007527;refseq.name2=LMBRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L20L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-115;refseq.start=36179149;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr5 36305308 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=6.60;MQ=98.60;MQ0=0;OQ=16946.96;QD=49.12;RankSumP=1.00000;SB=-6385.26;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.209C>G;refseq.codingCoordStr_2=c.209C>G;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=36305308;refseq.end_2=36305308;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=702;refseq.name2_1=RANBP3L;refseq.name2_2=RANBP3L;refseq.name_1=NM_001161429;refseq.name_2=NM_145000;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T70R;refseq.proteinCoordStr_2=p.T70R;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=36305308;refseq.start_2=36305308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr5 37088242 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.7080T>G;refseq.codingCoordStr_2=c.7080T>G;refseq.codonCoord_1=2360;refseq.codonCoord_2=2360;refseq.end_1=37088242;refseq.end_2=37088242;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7579;refseq.mrnaCoord_2=7579;refseq.name2_1=NIPBL;refseq.name2_2=NIPBL;refseq.name_1=NM_015384;refseq.name_2=NM_133433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2360G;refseq.proteinCoordStr_2=p.G2360G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=37088242;refseq.start_2=37088242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr5 37189628 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=228;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.93;MQ0=0;OQ=2874.20;QD=12.61;RankSumP=0.351784;SB=-1014.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.8182C>A;refseq.codonCoord=2728;refseq.end=37189628;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8413;refseq.name=NM_023073;refseq.name2=C5orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2728T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-30;refseq.start=37189628;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr5 37231785 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=200;Dels=0.00;HRun=0;HaplotypeScore=8.62;MQ=98.73;MQ0=0;OQ=3949.08;QD=19.75;RankSumP=0.171950;SB=-1465.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3743G>A;refseq.codonCoord=1248;refseq.end=37231785;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3974;refseq.name=NM_023073;refseq.name2=C5orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1248D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-69;refseq.start=37231785;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr5 37330230 . T C 162.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.75;MQ0=0;OQ=849.82;QD=15.18;RankSumP=0.715160;SB=-163.77;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.3711A>G;refseq.codingCoordStr_2=c.3888A>G;refseq.codonCoord_1=1237;refseq.codonCoord_2=1296;refseq.end_1=37330230;refseq.end_2=37330230;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3851;refseq.mrnaCoord_2=4006;refseq.name2_1=NUP155;refseq.name2_2=NUP155;refseq.name_1=NM_004298;refseq.name_2=NM_153485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1237L;refseq.proteinCoordStr_2=p.L1296L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=37330230;refseq.start_2=37330230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr5 37400200 . C T 410.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.82;MQ0=0;OQ=8278.12;QD=40.78;RankSumP=1.00000;SB=-3063.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.24G>A;refseq.codingCoordStr_2=c.201G>A;refseq.codonCoord_1=8;refseq.codonCoord_2=67;refseq.end_1=37400200;refseq.end_2=37400200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=164;refseq.mrnaCoord_2=319;refseq.name2_1=NUP155;refseq.name2_2=NUP155;refseq.name_1=NM_004298;refseq.name_2=NM_153485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L8L;refseq.proteinCoordStr_2=p.L67L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=37400200;refseq.start_2=37400200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr5 38517869 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2879A>C;refseq.codingCoordStr_2=c.2879A>C;refseq.codonCoord_1=960;refseq.codonCoord_2=960;refseq.end_1=38517869;refseq.end_2=38517869;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3211;refseq.mrnaCoord_2=3043;refseq.name2_1=LIFR;refseq.name2_2=LIFR;refseq.name_1=NM_001127671;refseq.name_2=NM_002310;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N960T;refseq.proteinCoordStr_2=p.N960T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=209;refseq.spliceDist_2=209;refseq.start_1=38517869;refseq.start_2=38517869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr5 38566419 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.88T>G;refseq.codingCoordStr_2=c.88T>G;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=38566419;refseq.end_2=38566419;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=420;refseq.mrnaCoord_2=252;refseq.name2_1=LIFR;refseq.name2_2=LIFR;refseq.name_1=NM_001127671;refseq.name_2=NM_002310;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L30V;refseq.proteinCoordStr_2=p.L30V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=38566419;refseq.start_2=38566419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=FilteredInAll GT 0/1 chr5 38954915 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=1552.82;QD=19.41;RankSumP=1.11917e-07;SB=-362.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1579G>A;refseq.codonCoord=527;refseq.end=38954915;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1981;refseq.name=NM_003999;refseq.name2=OSMR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E527K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=38954915;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 1/0 chr5 38985910 . G T 33.93 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=401;Dels=0.00;HRun=2;HaplotypeScore=30.94;MQ=94.78;MQ0=0;QD=0.08;RankSumP=0.00000;SB=342.13;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3797C>A;refseq.codonCoord=1266;refseq.end=38985910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3819;refseq.name=NM_152756;refseq.name2=RICTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1266K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-340;refseq.start=38985910;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 38986533 . G A 459.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.72;MQ0=0;OQ=5066.31;QD=39.89;RankSumP=1.00000;SB=-2009.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3174C>T;refseq.codonCoord=1058;refseq.end=38986533;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3196;refseq.name=NM_152756;refseq.name2=RICTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1058S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=47;refseq.start=38986533;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr5 38990700 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2630A>C;refseq.codonCoord=877;refseq.end=38990700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2652;refseq.name=NM_152756;refseq.name2=RICTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y877S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=21;refseq.start=38990700;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr5 38991553 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=14.95;MQ=98.99;MQ0=0;OQ=8670.16;QD=22.64;RankSumP=0.217817;SB=-1784.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2510C>T;refseq.codonCoord=837;refseq.end=38991553;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2532;refseq.name=NM_152756;refseq.name2=RICTOR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S837F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=11;refseq.start=38991553;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr5 39400311 . G A 263.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=99.00;MQ0=0;OQ=2944.58;QD=15.42;RankSumP=0.0500274;SB=-864.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.13C>T;refseq.codonCoord=5;refseq.end=39400311;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_001737;refseq.name2=C9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-65;refseq.start=39400311;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr5 40870352 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.117C>A;refseq.codonCoord=39;refseq.end=40870352;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_000997;refseq.name2=RPL37;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y39*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-23;refseq.start=40870352;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr5 40888208 . C G 204.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2165.13;QD=44.19;RankSumP=1.00000;SB=-951.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1017C>G;refseq.codonCoord=339;refseq.end=40888208;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1092;refseq.name=NM_032587;refseq.name2=CARD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T339T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=176;refseq.start=40888208;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 41194620 . G A 401.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=98.74;MQ0=0;OQ=9295.18;QD=40.95;RankSumP=1.00000;SB=-3631.60;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1881C>T;refseq.codingCoordStr_2=c.1881C>T;refseq.codonCoord_1=627;refseq.codonCoord_2=627;refseq.end_1=41194620;refseq.end_2=41194620;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2091;refseq.mrnaCoord_2=2146;refseq.name2_1=C6;refseq.name2_2=C6;refseq.name_1=NM_000065;refseq.name_2=NM_001115131;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D627D;refseq.proteinCoordStr_2=p.D627D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=41194620;refseq.start_2=41194620;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr5 41235716 . G T 335.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=9458.36;QD=38.76;RankSumP=1.00000;SB=-3624.47;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.356C>A;refseq.codingCoordStr_2=c.356C>A;refseq.codonCoord_1=119;refseq.codonCoord_2=119;refseq.end_1=41235716;refseq.end_2=41235716;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=621;refseq.name2_1=C6;refseq.name2_2=C6;refseq.name_1=NM_000065;refseq.name_2=NM_001115131;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A119E;refseq.proteinCoordStr_2=p.A119E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=41235716;refseq.start_2=41235716;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr5 41511523 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1181;Dels=0.00;HRun=1;HaplotypeScore=49.07;MQ=98.42;MQ0=0;OQ=17654.04;QD=14.95;RankSumP=2.18888e-05;SB=-5640.59;SecondBestBaseQ=29;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.end_1=41546272;refseq.end_2=41511523;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=33;refseq.name2_1=PLCXD3;refseq.name2_2=MIR1274A;refseq.name_1=NM_001005473;refseq.name_2=NR_031676;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=33;refseq.start_1=41418404;refseq.start_2=41511523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;set=filterInsoap-gatk GT 0/1 chr5 42735801 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.86;MQ0=0;OQ=8844.56;QD=40.95;RankSumP=1.00000;SB=-2793.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.558A>G;refseq.codonCoord=186;refseq.end=42735801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=601;refseq.name=NM_000163;refseq.name2=GHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G186G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-61;refseq.start=42735801;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 42754996 . A C 215.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=7.96;MQ=98.83;MQ0=0;OQ=6605.18;QD=40.52;RankSumP=1.00000;SB=-2058.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1630A>C;refseq.codonCoord=544;refseq.end=42754996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1673;refseq.name=NM_000163;refseq.name2=GHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.I544L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=685;refseq.start=42754996;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr5 43075550 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=98.38;MQ0=0;OQ=2671.68;QD=12.09;RankSumP=0.303729;SB=-389.00;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.356A>G;refseq.codonCoord=119;refseq.end=43075550;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_001014279;refseq.name2=C5orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q119R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-611;refseq.start=43075550;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr5 43281679 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=8.09;MQ=98.83;MQ0=0;OQ=1385.70;QD=11.74;RankSumP=0.0643461;SB=-539.50;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=43281679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_153361;refseq.name2=MGC42105;refseq.positionType=CDS;refseq.proteinCoordStr=p.H15H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-248;refseq.start=43281679;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr5 43327045 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1508T>C;refseq.codingCoordStr_2=c.1508T>C;refseq.codonCoord_1=503;refseq.codonCoord_2=503;refseq.end_1=43327045;refseq.end_2=43327045;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1656;refseq.name2_1=HMGCS1;refseq.name2_2=HMGCS1;refseq.name_1=NM_001098272;refseq.name_2=NM_002130;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L503P;refseq.proteinCoordStr_2=p.L503P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=43327045;refseq.start_2=43327045;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr5 43329960 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1138G>C;refseq.codingCoordStr_2=c.1138G>C;refseq.codonCoord_1=380;refseq.codonCoord_2=380;refseq.end_1=43329960;refseq.end_2=43329960;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1345;refseq.mrnaCoord_2=1286;refseq.name2_1=HMGCS1;refseq.name2_2=HMGCS1;refseq.name_1=NM_001098272;refseq.name_2=NM_002130;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A380P;refseq.proteinCoordStr_2=p.A380P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=43329960;refseq.start_2=43329960;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT 1/0 chr5 43332901 . A G 361.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=3311.52;QD=42.46;RankSumP=1.00000;SB=-819.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.699T>C;refseq.codingCoordStr_2=c.699T>C;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.end_1=43332901;refseq.end_2=43332901;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=906;refseq.mrnaCoord_2=847;refseq.name2_1=HMGCS1;refseq.name2_2=HMGCS1;refseq.name_1=NM_001098272;refseq.name_2=NM_002130;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y233Y;refseq.proteinCoordStr_2=p.Y233Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=43332901;refseq.start_2=43332901;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr5 43528735 . G A 220.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=14994.90;QD=42.84;RankSumP=1.00000;SB=-5882.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1329C>T;refseq.codonCoord=443;refseq.end=43528735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_198566;refseq.name2=C5orf34;refseq.positionType=CDS;refseq.proteinCoordStr=p.N443N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=15;refseq.start=43528735;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr5 43541750 . A G 316.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.82;MQ0=0;OQ=12548.66;QD=41.41;RankSumP=1.00000;SB=-4794.26;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.789T>C;refseq.codonCoord=263;refseq.end=43541750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1105;refseq.name=NM_198566;refseq.name2=C5orf34;refseq.positionType=CDS;refseq.proteinCoordStr=p.N263N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-144;refseq.start=43541750;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr5 43545105 . T A 309.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.44;MQ0=0;OQ=9934.91;QD=40.72;RankSumP=1.00000;SB=-4705.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.94A>T;refseq.codonCoord=32;refseq.end=43545105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_198566;refseq.name2=C5orf34;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-102;refseq.start=43545105;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr5 43645100 . C T 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=13.52;MQ=98.23;MQ0=0;OQ=8364.03;QD=37.01;RankSumP=1.00000;SB=-2427.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.46C>T;refseq.codingCoordStr_2=c.46C>T;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=43645100;refseq.end_2=43645100;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=301;refseq.mrnaCoord_2=267;refseq.name2_1=NNT;refseq.name2_2=NNT;refseq.name_1=NM_012343;refseq.name_2=NM_182977;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L16L;refseq.proteinCoordStr_2=p.L16L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=43645100;refseq.start_2=43645100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr5 43648945 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.330T>G;refseq.codingCoordStr_2=c.330T>G;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=43648945;refseq.end_2=43648945;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=551;refseq.name2_1=NNT;refseq.name2_2=NNT;refseq.name_1=NM_012343;refseq.name_2=NM_182977;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G110G;refseq.proteinCoordStr_2=p.G110G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=43648945;refseq.start_2=43648945;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr5 43648947 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.332C>G;refseq.codingCoordStr_2=c.332C>G;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.end_1=43648947;refseq.end_2=43648947;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=587;refseq.mrnaCoord_2=553;refseq.name2_1=NNT;refseq.name2_2=NNT;refseq.name_1=NM_012343;refseq.name_2=NM_182977;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A111G;refseq.proteinCoordStr_2=p.A111G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=43648947;refseq.start_2=43648947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr5 44846964 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=348;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.85;MQ0=0;OQ=6323.38;QD=18.17;RankSumP=0.329992;SB=-2013.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.698T>G;refseq.codonCoord=233;refseq.end=44846964;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_016640;refseq.name2=MRPS30;refseq.positionType=CDS;refseq.proteinCoordStr=p.I233R;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-50;refseq.start=44846964;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr5 49772714 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.29C>A;refseq.codonCoord=10;refseq.end=49772714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_198449;refseq.name2=EMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A10D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-84;refseq.start=49772714;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/1 chr5 50093486 . G A,T 275.27 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.77;MQ0=0;OQ=9639.98;QD=40.33;RankSumP=0.0643350;SB=-1989.26;SecondBestBaseQ=33;set=Intersection GT 1/2 chr5 50721262 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=446.82;QD=14.89;RankSumP=0.333278;SB=-181.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.504A>G;refseq.codonCoord=168;refseq.end=50721262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_002202;refseq.name2=ISL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P168P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=26;refseq.start=50721262;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr5 52132646 . C A 458.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.70;MQ0=0;OQ=4473.58;QD=38.57;RankSumP=1.00000;SB=-2164.39;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.661C>A;refseq.codonCoord_2=221;refseq.end_1=52180945;refseq.end_2=52132646;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1646;refseq.name2_1=ITGA1;refseq.name2_2=PELO;refseq.name_1=NM_181501;refseq.name_2=NM_015946;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L221M;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-66;refseq.start_1=52120016;refseq.start_2=52132646;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr5 52193131 . T C 373.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.62;MQ0=0;OQ=10343.83;QD=38.03;RankSumP=1.00000;SB=-3002.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.276T>C;refseq.codonCoord=92;refseq.end=52193131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_181501;refseq.name2=ITGA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C92C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-20;refseq.start=52193131;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr5 52229044 . C T 170.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=97.45;MQ0=0;OQ=1453.06;QD=14.39;RankSumP=0.398084;SB=-351.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1092C>T;refseq.codonCoord=364;refseq.end=52229044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1144;refseq.name=NM_181501;refseq.name2=ITGA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A364A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=52229044;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr5 52383126 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=500;Dels=0.00;HRun=2;HaplotypeScore=10.89;MQ=98.86;MQ0=0;OQ=10558.06;QD=21.12;RankSumP=0.103126;SB=-3567.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=52383126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_002203;refseq.name2=ITGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F253F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-21;refseq.start=52383126;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr5 52387170 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=3;HaplotypeScore=9.96;MQ=98.60;MQ0=0;OQ=8535.30;QD=20.18;RankSumP=0.188341;SB=-1987.82;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.825G>A;refseq.codonCoord=275;refseq.end=52387170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=968;refseq.name=NM_002203;refseq.name2=ITGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T275T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=46;refseq.start=52387170;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr5 52415034 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=3;HaplotypeScore=3.05;MQ=98.91;MQ0=0;OQ=4561.40;QD=21.62;RankSumP=0.489878;SB=-1065.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3252C>T;refseq.codonCoord=1084;refseq.end=52415034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3395;refseq.name=NM_002203;refseq.name2=ITGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1084F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=52415034;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr5 52892261 . G C 302.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=12.21;MQ=98.05;MQ0=0;OQ=8757.89;QD=21.15;RankSumP=0.00281652;SB=-3207.89;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.12G>C;refseq.codonCoord=4;refseq.end=52892261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=40;refseq.name=NM_002495;refseq.name2=NDUFS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=52892261;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 0/1 chr5 52977840 . A C 347.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2414.14;QD=39.58;RankSumP=1.00000;SB=-382.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.198A>C;refseq.codonCoord=66;refseq.end=52977840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_002495;refseq.name2=NDUFS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=21;refseq.start=52977840;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr5 52977954 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=98.64;MQ0=0;OQ=17325.55;QD=42.05;RankSumP=1.00000;SB=-7947.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.312A>G;refseq.codonCoord=104;refseq.end=52977954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_002495;refseq.name2=NDUFS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R104R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-39;refseq.start=52977954;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr5 53849809 . T C 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=88.64;MQ0=0;OQ=359.82;QD=29.98;RankSumP=1.00000;SB=-118.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.270T>C;refseq.codingCoordStr_2=c.270T>C;refseq.codingCoordStr_3=c.270T>C;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.codonCoord_3=90;refseq.end_1=53849809;refseq.end_2=53849809;refseq.end_3=53849809;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=460;refseq.mrnaCoord_2=464;refseq.mrnaCoord_3=460;refseq.name2_1=SNX18;refseq.name2_2=SNX18;refseq.name2_3=SNX18;refseq.name_1=NM_001102575;refseq.name_2=NM_001145427;refseq.name_3=NM_052870;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P90P;refseq.proteinCoordStr_2=p.P90P;refseq.proteinCoordStr_3=p.P90P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=460;refseq.spliceDist_2=464;refseq.spliceDist_3=460;refseq.start_1=53849809;refseq.start_2=53849809;refseq.start_3=53849809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr5 53850151 . T C 179.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=96.85;MQ0=0;OQ=512.81;QD=34.19;RankSumP=1.00000;SB=-158.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.612T>C;refseq.codingCoordStr_2=c.612T>C;refseq.codingCoordStr_3=c.612T>C;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.codonCoord_3=204;refseq.end_1=53850151;refseq.end_2=53850151;refseq.end_3=53850151;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=806;refseq.mrnaCoord_3=802;refseq.name2_1=SNX18;refseq.name2_2=SNX18;refseq.name2_3=SNX18;refseq.name_1=NM_001102575;refseq.name_2=NM_001145427;refseq.name_3=NM_052870;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G204G;refseq.proteinCoordStr_2=p.G204G;refseq.proteinCoordStr_3=p.G204G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=802;refseq.spliceDist_2=806;refseq.spliceDist_3=802;refseq.start_1=53850151;refseq.start_2=53850151;refseq.start_3=53850151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr5 53850997 . G C 224.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=3.45;MQ=98.66;MQ0=0;OQ=5187.71;QD=42.52;RankSumP=1.00000;SB=-2451.32;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1458G>C;refseq.codingCoordStr_2=c.1458G>C;refseq.codingCoordStr_3=c.1458G>C;refseq.codonCoord_1=486;refseq.codonCoord_2=486;refseq.codonCoord_3=486;refseq.end_1=53850997;refseq.end_2=53850997;refseq.end_3=53850997;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1648;refseq.mrnaCoord_2=1652;refseq.mrnaCoord_3=1648;refseq.name2_1=SNX18;refseq.name2_2=SNX18;refseq.name2_3=SNX18;refseq.name_1=NM_001102575;refseq.name_2=NM_001145427;refseq.name_3=NM_052870;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S486S;refseq.proteinCoordStr_2=p.S486S;refseq.proteinCoordStr_3=p.S486S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-164;refseq.spliceDist_2=-317;refseq.spliceDist_3=-1595;refseq.start_1=53850997;refseq.start_2=53850997;refseq.start_3=53850997;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr5 54356307 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.127T>C;refseq.codonCoord=43;refseq.end=54356307;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_002104;refseq.name2=GZMK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S43P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=63;refseq.start=54356307;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 54356380 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.200A>C;refseq.codonCoord=67;refseq.end=54356380;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_002104;refseq.name2=GZMK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H67P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-13;refseq.start=54356380;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 54439714 . T C 377.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=3379.15;QD=39.75;RankSumP=1.00000;SB=-689.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.362T>C;refseq.codonCoord=121;refseq.end=54439714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_006144;refseq.name2=GZMA;refseq.positionType=CDS;refseq.proteinCoordStr=p.M121T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=54439714;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 54439772 . C T 352.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=99.00;MQ0=0;OQ=6231.66;QD=41.54;RankSumP=1.00000;SB=-2076.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.420C>T;refseq.codonCoord=140;refseq.end=54439772;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_006144;refseq.name2=GZMA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D140D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=63;refseq.start=54439772;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr5 54445856 . G A 186.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=99.00;MQ0=0;OQ=476.29;QD=17.01;RankSumP=0.490984;SB=-10.00;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1381C>T;refseq.codingCoordStr_2=c.1507C>T;refseq.codingCoordStr_3=c.1495C>T;refseq.codonCoord_1=461;refseq.codonCoord_2=503;refseq.codonCoord_3=499;refseq.end_1=54445856;refseq.end_2=54445856;refseq.end_3=54445856;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1558;refseq.mrnaCoord_2=1684;refseq.mrnaCoord_3=1672;refseq.name2_1=CDC20B;refseq.name2_2=CDC20B;refseq.name2_3=CDC20B;refseq.name_1=NM_001145734;refseq.name_2=NM_001170402;refseq.name_3=NM_152623;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R461W;refseq.proteinCoordStr_2=p.R503W;refseq.proteinCoordStr_3=p.R499W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.start_1=54445856;refseq.start_2=54445856;refseq.start_3=54445856;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 1/0 chr5 54445877 . A C 239.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=2100.97;QD=38.91;RankSumP=1.00000;SB=-196.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1360T>G;refseq.codingCoordStr_2=c.1486T>G;refseq.codingCoordStr_3=c.1474T>G;refseq.codonCoord_1=454;refseq.codonCoord_2=496;refseq.codonCoord_3=492;refseq.end_1=54445877;refseq.end_2=54445877;refseq.end_3=54445877;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1537;refseq.mrnaCoord_2=1663;refseq.mrnaCoord_3=1651;refseq.name2_1=CDC20B;refseq.name2_2=CDC20B;refseq.name2_3=CDC20B;refseq.name_1=NM_001145734;refseq.name_2=NM_001170402;refseq.name_3=NM_152623;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S454A;refseq.proteinCoordStr_2=p.S496A;refseq.proteinCoordStr_3=p.S492A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=54445877;refseq.start_2=54445877;refseq.start_3=54445877;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr5 54456556 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=99.00;MQ0=0;OQ=1058.77;QD=14.71;RankSumP=0.0530392;SB=-337.93;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1047T>G;refseq.codingCoordStr_2=c.1047T>G;refseq.codingCoordStr_3=c.1047T>G;refseq.codonCoord_1=349;refseq.codonCoord_2=349;refseq.codonCoord_3=349;refseq.end_1=54456556;refseq.end_2=54456556;refseq.end_3=54456556;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1224;refseq.mrnaCoord_2=1224;refseq.mrnaCoord_3=1224;refseq.name2_1=CDC20B;refseq.name2_2=CDC20B;refseq.name2_3=CDC20B;refseq.name_1=NM_001145734;refseq.name_2=NM_001170402;refseq.name_3=NM_152623;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V349V;refseq.proteinCoordStr_2=p.V349V;refseq.proteinCoordStr_3=p.V349V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=54456556;refseq.start_2=54456556;refseq.start_3=54456556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 0/1 chr5 54475223 . G A 393.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.44;MQ0=0;OQ=8636.55;QD=43.18;RankSumP=1.00000;SB=-3447.81;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.361C>T;refseq.codingCoordStr_2=c.361C>T;refseq.codingCoordStr_3=c.361C>T;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.end_1=54475223;refseq.end_2=54475223;refseq.end_3=54475223;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=538;refseq.mrnaCoord_2=538;refseq.mrnaCoord_3=538;refseq.name2_1=CDC20B;refseq.name2_2=CDC20B;refseq.name2_3=CDC20B;refseq.name_1=NM_001145734;refseq.name_2=NM_001170402;refseq.name_3=NM_152623;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R121C;refseq.proteinCoordStr_2=p.R121C;refseq.proteinCoordStr_3=p.R121C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=54475223;refseq.start_2=54475223;refseq.start_3=54475223;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/1 chr5 54495718 . A G 112.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=11.88;MQ=98.72;MQ0=0;OQ=2728.06;QD=16.74;RankSumP=0.440635;SB=-1190.02;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_4=c.545A>G;refseq.codonCoord_4=182;refseq.end_1=54504162;refseq.end_2=54504162;refseq.end_3=54504162;refseq.end_4=54495718;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=582;refseq.name2_1=CDC20B;refseq.name2_2=CDC20B;refseq.name2_3=CDC20B;refseq.name2_4=GPX8;refseq.name_1=NM_001145734;refseq.name_2=NM_001170402;refseq.name_3=NM_152623;refseq.name_4=NM_001008397;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.K182R;refseq.referenceAA_4=Lys;refseq.referenceCodon_4=AAG;refseq.spliceDist_4=79;refseq.start_1=54478452;refseq.start_2=54478452;refseq.start_3=54478452;refseq.start_4=54495718;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=AGG;set=Intersection GT 0/1 chr5 54614966 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1787A>G;refseq.codonCoord=596;refseq.end=54614966;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1907;refseq.name=NM_019030;refseq.name2=DHX29;refseq.positionType=CDS;refseq.proteinCoordStr=p.E596G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-179;refseq.start=54614966;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr5 54614968 . A C 36.97 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=426;Dels=0.00;HRun=2;HaplotypeScore=19.46;MQ=97.99;MQ0=0;QD=0.09;RankSumP=0.00000;SB=913.88;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1785T>G;refseq.codonCoord=595;refseq.end=54614968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_019030;refseq.name2=DHX29;refseq.positionType=CDS;refseq.proteinCoordStr=p.G595G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-181;refseq.start=54614968;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 54627029 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.586C>A;refseq.codonCoord=196;refseq.end=54627029;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_019030;refseq.name2=DHX29;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q196K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-66;refseq.start=54627029;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 54996366 . A G 433.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.59;MQ0=0;OQ=7850.58;QD=40.47;RankSumP=1.00000;SB=-3154.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.609T>C;refseq.codonCoord=203;refseq.end=54996366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_173514;refseq.name2=SLC38A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L203L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=83;refseq.start=54996366;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr5 54996430 . C G 238.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.23;MQ0=0;OQ=5884.20;QD=44.58;RankSumP=1.00000;SB=-1703.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.545G>C;refseq.codonCoord=182;refseq.end=54996430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_173514;refseq.name2=SLC38A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S182T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=19;refseq.start=54996430;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr5 54996444 . C T 381.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.15;MQ0=0;OQ=4154.38;QD=41.54;RankSumP=1.00000;SB=-841.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.531G>A;refseq.codonCoord=177;refseq.end=54996444;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_173514;refseq.name2=SLC38A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S177S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=54996444;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr5 55191159 . C T 91.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=523;Dels=0.00;HRun=1;HaplotypeScore=8.26;MQ=98.59;MQ0=0;OQ=21515.91;QD=41.14;RankSumP=1.00000;SB=-7756.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.129C>T;refseq.codonCoord=43;refseq.end=55191159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_139017;refseq.name2=IL31RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P43P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-26;refseq.start=55191159;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr5 55214733 . G A 189.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=98.72;MQ0=0;OQ=3121.69;QD=15.15;RankSumP=0.445176;SB=-1564.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.559G>A;refseq.codonCoord=187;refseq.end=55214733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_139017;refseq.name2=IL31RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D187N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-48;refseq.start=55214733;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 55239008 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1317C>G;refseq.codonCoord=439;refseq.end=55239008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1382;refseq.name=NM_139017;refseq.name2=IL31RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G439G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-38;refseq.start=55239008;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 55242201 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=1;HaplotypeScore=24.03;MQ=98.73;MQ0=0;OQ=11890.34;QD=21.66;RankSumP=0.304363;SB=-2913.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1586G>A;refseq.codonCoord=529;refseq.end=55242201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1651;refseq.name=NM_139017;refseq.name2=IL31RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S529N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-57;refseq.start=55242201;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr5 55272874 . C T 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.139454;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2550G>A;refseq.codingCoordStr_2=c.*1477G>A;refseq.codonCoord_1=850;refseq.end_1=55272874;refseq.end_2=55272874;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2805;refseq.mrnaCoord_2=2722;refseq.name2_1=IL6ST;refseq.name2_2=IL6ST;refseq.name_1=NM_002184;refseq.name_2=NM_175767;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.Q850Q;refseq.referenceAA_1=Gln;refseq.referenceCodon_1=CAG;refseq.spliceDist_1=-424;refseq.spliceDist_2=-424;refseq.start_1=55272874;refseq.start_2=55272874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantCodon_1=CAA;set=soap GT 0/1 chr5 55502317 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.383G>C;refseq.codonCoord=128;refseq.end=55502317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_024669;refseq.name2=ANKRD55;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-40;refseq.start=55502317;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 56197544 . G A 423.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=6944.43;QD=42.34;RankSumP=1.00000;SB=-1884.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1284G>A;refseq.codonCoord=428;refseq.end=56197544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_005921;refseq.name2=MAP3K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T428T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-18;refseq.start=56197544;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 56213200 . G A 198.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.57;MQ0=0;OQ=7019.15;QD=21.21;RankSumP=0.243035;SB=-2448.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2416G>A;refseq.codonCoord=806;refseq.end=56213200;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2917;refseq.name=NM_005921;refseq.name2=MAP3K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D806N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=47;refseq.start=56213200;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 56213500 . G A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=14.83;MQ=97.90;MQ0=0;OQ=7897.49;QD=42.23;RankSumP=1.00000;SB=-3589.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2716G>A;refseq.codonCoord=906;refseq.end=56213500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3217;refseq.name=NM_005921;refseq.name2=MAP3K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V906I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=347;refseq.start=56213500;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 56213974 . A C 293.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.70;MQ0=0;OQ=11318.01;QD=37.60;RankSumP=1.00000;SB=-5041.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3190A>C;refseq.codonCoord=1064;refseq.end=56213974;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3691;refseq.name=NM_005921;refseq.name2=MAP3K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1064R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-477;refseq.start=56213974;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr5 56215256 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3812T>G;refseq.codonCoord=1271;refseq.end=56215256;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4313;refseq.name=NM_005921;refseq.name2=MAP3K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1271G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=56215256;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 56242880 . T A 310.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.98;MQ0=0;OQ=2177.89;QD=17.15;RankSumP=0.476911;SB=-1058.92;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.226T>A;refseq.codingCoordStr_2=c.226T>A;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=56242880;refseq.end_2=56242880;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=612;refseq.mrnaCoord_2=612;refseq.name2_1=C5orf35;refseq.name2_2=C5orf35;refseq.name_1=NM_001171990;refseq.name_2=NM_153706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S76T;refseq.proteinCoordStr_2=p.S76T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=128;refseq.spliceDist_2=128;refseq.start_1=56242880;refseq.start_2=56242880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr5 56562540 . G A 105.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=506;Dels=0.00;HRun=0;HaplotypeScore=12.19;MQ=98.67;MQ0=0;OQ=10480.85;QD=20.71;RankSumP=0.322082;SB=-4339.37;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.195G>A;refseq.codingCoordStr_2=c.195G>A;refseq.codingCoordStr_3=c.174G>A;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.codonCoord_3=58;refseq.end_1=56562540;refseq.end_2=56562540;refseq.end_3=56562540;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1205;refseq.mrnaCoord_2=252;refseq.mrnaCoord_3=1448;refseq.name2_1=GPBP1;refseq.name2_2=GPBP1;refseq.name2_3=GPBP1;refseq.name_1=NM_001127235;refseq.name_2=NM_001127236;refseq.name_3=NM_022913;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G65G;refseq.proteinCoordStr_2=p.G65G;refseq.proteinCoordStr_3=p.G58G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=56562540;refseq.start_2=56562540;refseq.start_3=56562540;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/0 chr5 57790608 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=2;HaplotypeScore=12.06;MQ=98.53;MQ0=0;OQ=8867.53;QD=20.34;RankSumP=0.144806;SB=-3007.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.339T>C;refseq.codonCoord=113;refseq.end=57790608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_006622;refseq.name2=PLK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-40;refseq.start=57790608;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 60276899 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=2;HaplotypeScore=3.47;MQ=75.01;MQ0=42;OQ=4454.38;QD=28.92;RankSumP=1.00000;SB=-1100.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.60G>A;refseq.codonCoord=20;refseq.end=60276899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_174889;refseq.name2=NDUFAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K20K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-68;refseq.start=60276899;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr5 61730136 . T C 304.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.51;MQ0=0;OQ=2147.86;QD=18.05;RankSumP=0.0472071;SB=-1080.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.405A>G;refseq.codonCoord=135;refseq.end=61730136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_014473;refseq.name2=DIMT1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S135S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=61730136;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr5 61808292 . G T 218.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=99.00;MQ0=0;OQ=2364.54;QD=15.45;RankSumP=0.400768;SB=-1131.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.903G>T;refseq.codingCoordStr_2=c.783G>T;refseq.codonCoord_1=301;refseq.codonCoord_2=261;refseq.end_1=61808292;refseq.end_2=61808292;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1033;refseq.mrnaCoord_2=973;refseq.name2_1=IPO11;refseq.name2_2=IPO11;refseq.name_1=NM_001134779;refseq.name_2=NM_016338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V301V;refseq.proteinCoordStr_2=p.V261V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=61808292;refseq.start_2=61808292;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr5 63838239 . G C 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.500003;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.32G>C;refseq.codonCoord=11;refseq.end=63838239;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=32;refseq.name=NM_001029875;refseq.name2=RGS7BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R11P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=32;refseq.start=63838239;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr5 63940824 . A G 292.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=8.26;MQ=98.79;MQ0=0;OQ=11212.75;QD=38.53;RankSumP=1.00000;SB=-3385.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.763A>G;refseq.codonCoord=255;refseq.end=63940824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_001029875;refseq.name2=RGS7BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I255V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=81;refseq.start=63940824;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr5 64059737 . C T 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=24;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=913.98;QD=38.08;RankSumP=1.00000;SB=-219.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.231G>A;refseq.codonCoord=77;refseq.end=64059737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_173829;refseq.name2=SFRS12IP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K77K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=26;refseq.start=64059737;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr5 64308774 . G A 214.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.91;MQ0=0;OQ=2563.58;QD=13.86;RankSumP=0.414081;SB=-1177.63;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1209G>A;refseq.codonCoord=403;refseq.end=64308774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_005869;refseq.name2=CWC27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T403T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-48;refseq.start=64308774;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr5 64546514 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2438T>G;refseq.codonCoord=813;refseq.end=64546514;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3252;refseq.name=NM_197941;refseq.name2=ADAMTS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V813G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=64546514;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr5 64661047 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1137A>G;refseq.codonCoord=379;refseq.end=64661047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1951;refseq.name=NM_197941;refseq.name2=ADAMTS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G379G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=20;refseq.start=64661047;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 64917692 . A G 359.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=4.40;MQ=98.94;MQ0=0;OQ=12264.11;QD=38.09;RankSumP=1.00000;SB=-3626.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1725A>G;refseq.codonCoord=575;refseq.end=64917692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1732;refseq.name=NM_015342;refseq.name2=PPWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P575P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-73;refseq.start=64917692;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 65143971 . A G 308.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=5848.48;QD=38.73;RankSumP=1.00000;SB=-2379.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1977A>G;refseq.codonCoord=659;refseq.end=65143971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2093;refseq.name=NM_020726;refseq.name2=NLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P659P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=65143971;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 65352937 . C T 316.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.03;MQ0=0;OQ=5171.01;QD=42.39;RankSumP=1.00000;SB=-2527.74;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.565C>T;refseq.codingCoordStr_2=c.565C>T;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.end_1=65352937;refseq.end_2=65352937;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=873;refseq.mrnaCoord_2=873;refseq.name2_1=ERBB2IP;refseq.name2_2=ERBB2IP;refseq.name_1=NM_001006600;refseq.name_2=NM_018695;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L189L;refseq.proteinCoordStr_2=p.L189L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=65352937;refseq.start_2=65352937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr5 66515760 . T C 353.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=98.89;MQ0=0;OQ=7418.81;QD=40.76;RankSumP=1.00000;SB=-3624.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.667A>G;refseq.codonCoord=223;refseq.end=66515760;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_005582;refseq.name2=CD180;refseq.positionType=CDS;refseq.proteinCoordStr=p.I223V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=410;refseq.start=66515760;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr5 66528168 . C G 229.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.10;MQ0=0;OQ=3823.35;QD=22.36;RankSumP=0.177519;SB=-943.59;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.58G>C;refseq.codonCoord=20;refseq.end=66528168;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_005582;refseq.name2=CD180;refseq.positionType=CDS;refseq.proteinCoordStr=p.V20L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-33;refseq.start=66528168;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr5 67558478 . C T 173.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=98.94;MQ0=0;OQ=1893.42;QD=13.72;RankSumP=0.264690;SB=-771.12;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.219C>T;refseq.codonCoord=73;refseq.end=67558478;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_181523;refseq.name2=PIK3R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y73Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-116;refseq.start=67558478;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr5 67624944 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.366C>T;refseq.codingCoordStr_2=c.1176C>T;refseq.codingCoordStr_3=c.276C>T;refseq.codonCoord_1=122;refseq.codonCoord_2=392;refseq.codonCoord_3=92;refseq.end_1=67624944;refseq.end_2=67624944;refseq.end_3=67624944;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=428;refseq.mrnaCoord_2=1218;refseq.mrnaCoord_3=588;refseq.name2_1=PIK3R1;refseq.name2_2=PIK3R1;refseq.name2_3=PIK3R1;refseq.name_1=NM_181504;refseq.name_2=NM_181523;refseq.name_3=NM_181524;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F122F;refseq.proteinCoordStr_2=p.F392F;refseq.proteinCoordStr_3=p.F92F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=67624944;refseq.start_2=67624944;refseq.start_3=67624944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr5 68453399 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1738.29;QD=25.56;RankSumP=0.125661;SB=-858.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1692C>T;refseq.codonCoord=564;refseq.end=68453399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1893;refseq.name=NM_022902;refseq.name2=SLC30A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H564H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-80;refseq.start=68453399;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr5 68454810 . A T 350.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.83;MQ0=0;OQ=6162.09;QD=20.47;RankSumP=0.0190124;SB=-1727.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1800A>T;refseq.codonCoord=600;refseq.end=68454810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2001;refseq.name=NM_022902;refseq.name2=SLC30A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T600T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=29;refseq.start=68454810;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr5 68507003 . G A 180.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.81;MQ0=0;OQ=9629.00;QD=20.89;RankSumP=0.369149;SB=-3991.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.966G>A;refseq.codonCoord=322;refseq.end=68507003;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_031966;refseq.name2=CCNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L322L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=24;refseq.start=68507003;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr5 68567009 . C T 235.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.75;MQ0=0;OQ=9780.59;QD=41.80;RankSumP=1.00000;SB=-4536.09;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.99C>T;refseq.codonCoord=33;refseq.end=68567009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_001799;refseq.name2=CDK7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N33N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-28;refseq.start=68567009;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr5 68731696 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=86.44;MQ0=12;OQ=2244.59;QD=11.63;RankSumP=0.0918451;SB=-1027.32;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_2=c.1637T>G;refseq.codingCoordStr_3=c.1637T>G;refseq.codingCoordStr_4=c.1670T>G;refseq.codingCoordStr_5=c.1142T>G;refseq.codingCoordStr_6=c.1379T>G;refseq.codingCoordStr_7=c.1637T>G;refseq.codingCoordStr_8=c.1637T>G;refseq.codingCoordStr_9=c.1637T>G;refseq.codonCoord_2=546;refseq.codonCoord_3=546;refseq.codonCoord_4=557;refseq.codonCoord_5=381;refseq.codonCoord_6=460;refseq.codonCoord_7=546;refseq.codonCoord_8=546;refseq.codonCoord_9=546;refseq.end_1=69033837;refseq.end_2=68731696;refseq.end_3=68731696;refseq.end_4=68731696;refseq.end_5=68731696;refseq.end_6=68731696;refseq.end_7=68731696;refseq.end_8=68731696;refseq.end_9=68731696;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_2=2279;refseq.mrnaCoord_3=2175;refseq.mrnaCoord_4=1732;refseq.mrnaCoord_5=1765;refseq.mrnaCoord_6=1691;refseq.mrnaCoord_7=2071;refseq.mrnaCoord_8=2117;refseq.mrnaCoord_9=1934;refseq.name2_1=LOC653391;refseq.name2_2=RAD17;refseq.name2_3=RAD17;refseq.name2_4=RAD17;refseq.name2_5=RAD17;refseq.name2_6=RAD17;refseq.name2_7=RAD17;refseq.name2_8=RAD17;refseq.name2_9=RAD17;refseq.name_1=NR_029426;refseq.name_2=NM_002873;refseq.name_3=NM_133338;refseq.name_4=NM_133339;refseq.name_5=NM_133340;refseq.name_6=NM_133341;refseq.name_7=NM_133342;refseq.name_8=NM_133343;refseq.name_9=NM_133344;refseq.numMatchingRecords=9;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_2=p.L546R;refseq.proteinCoordStr_3=p.L546R;refseq.proteinCoordStr_4=p.L557R;refseq.proteinCoordStr_5=p.L381R;refseq.proteinCoordStr_6=p.L460R;refseq.proteinCoordStr_7=p.L546R;refseq.proteinCoordStr_8=p.L546R;refseq.proteinCoordStr_9=p.L546R;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceAA_9=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.referenceCodon_7=CTC;refseq.referenceCodon_8=CTC;refseq.referenceCodon_9=CTC;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.spliceDist_5=-57;refseq.spliceDist_6=-57;refseq.spliceDist_7=-57;refseq.spliceDist_8=-57;refseq.spliceDist_9=-57;refseq.start_1=68713474;refseq.start_2=68731696;refseq.start_3=68731696;refseq.start_4=68731696;refseq.start_5=68731696;refseq.start_6=68731696;refseq.start_7=68731696;refseq.start_8=68731696;refseq.start_9=68731696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantAA_9=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;refseq.variantCodon_6=CGC;refseq.variantCodon_7=CGC;refseq.variantCodon_8=CGC;refseq.variantCodon_9=CGC;set=Intersection GT 1/0 chr5 68745857 . C T 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0518189;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_2=c.1995C>T;refseq.codingCoordStr_3=c.1995C>T;refseq.codingCoordStr_4=c.2028C>T;refseq.codingCoordStr_5=c.1500C>T;refseq.codingCoordStr_6=c.1737C>T;refseq.codingCoordStr_7=c.1995C>T;refseq.codingCoordStr_8=c.1995C>T;refseq.codingCoordStr_9=c.1995C>T;refseq.codonCoord_2=665;refseq.codonCoord_3=665;refseq.codonCoord_4=676;refseq.codonCoord_5=500;refseq.codonCoord_6=579;refseq.codonCoord_7=665;refseq.codonCoord_8=665;refseq.codonCoord_9=665;refseq.end_1=69033837;refseq.end_2=68745857;refseq.end_3=68745857;refseq.end_4=68745857;refseq.end_5=68745857;refseq.end_6=68745857;refseq.end_7=68745857;refseq.end_8=68745857;refseq.end_9=68745857;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_2=2637;refseq.mrnaCoord_3=2533;refseq.mrnaCoord_4=2090;refseq.mrnaCoord_5=2123;refseq.mrnaCoord_6=2049;refseq.mrnaCoord_7=2429;refseq.mrnaCoord_8=2475;refseq.mrnaCoord_9=2292;refseq.name2_1=LOC653391;refseq.name2_2=RAD17;refseq.name2_3=RAD17;refseq.name2_4=RAD17;refseq.name2_5=RAD17;refseq.name2_6=RAD17;refseq.name2_7=RAD17;refseq.name2_8=RAD17;refseq.name2_9=RAD17;refseq.name_1=NR_029426;refseq.name_2=NM_002873;refseq.name_3=NM_133338;refseq.name_4=NM_133339;refseq.name_5=NM_133340;refseq.name_6=NM_133341;refseq.name_7=NM_133342;refseq.name_8=NM_133343;refseq.name_9=NM_133344;refseq.numMatchingRecords=9;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_2=p.Y665Y;refseq.proteinCoordStr_3=p.Y665Y;refseq.proteinCoordStr_4=p.Y676Y;refseq.proteinCoordStr_5=p.Y500Y;refseq.proteinCoordStr_6=p.Y579Y;refseq.proteinCoordStr_7=p.Y665Y;refseq.proteinCoordStr_8=p.Y665Y;refseq.proteinCoordStr_9=p.Y665Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceAA_9=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.referenceCodon_8=TAC;refseq.referenceCodon_9=TAC;refseq.spliceDist_2=244;refseq.spliceDist_3=244;refseq.spliceDist_4=244;refseq.spliceDist_5=244;refseq.spliceDist_6=244;refseq.spliceDist_7=244;refseq.spliceDist_8=244;refseq.spliceDist_9=244;refseq.start_1=68713474;refseq.start_2=68745857;refseq.start_3=68745857;refseq.start_4=68745857;refseq.start_5=68745857;refseq.start_6=68745857;refseq.start_7=68745857;refseq.start_8=68745857;refseq.start_9=68745857;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantAA_8=Tyr;refseq.variantAA_9=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;refseq.variantCodon_6=TAT;refseq.variantCodon_7=TAT;refseq.variantCodon_8=TAT;refseq.variantCodon_9=TAT;set=soap GT 0/1 chr5 68751066 . C T 193.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=8.72;MQ=98.81;MQ0=0;OQ=11405.97;QD=38.93;RankSumP=1.00000;SB=-5656.93;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.98C>T;refseq.codonCoord_2=33;refseq.end_1=69033837;refseq.end_2=68751066;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=172;refseq.name2_1=LOC653391;refseq.name2_2=MARVELD2;refseq.name_1=NR_029426;refseq.name_2=NM_001038603;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T33I;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=113;refseq.start_1=68713474;refseq.start_2=68751066;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr5 68751319 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.351A>C;refseq.codonCoord_2=117;refseq.end_1=69033837;refseq.end_2=68751319;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=425;refseq.name2_1=LOC653391;refseq.name2_2=MARVELD2;refseq.name_1=NR_029426;refseq.name_2=NM_001038603;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P117P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=366;refseq.start_1=68713474;refseq.start_2=68751319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr5 68751866 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=388;Dels=0.00;HRun=0;HaplotypeScore=26.61;MQ=98.87;MQ0=0;OQ=5342.95;QD=13.77;RankSumP=0.00129546;SB=-2096.31;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.898T>A;refseq.codonCoord_2=300;refseq.end_1=69033837;refseq.end_2=68751866;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=972;refseq.name2_1=LOC653391;refseq.name2_2=MARVELD2;refseq.name_1=NR_029426;refseq.name_2=NM_001038603;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L300M;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=-249;refseq.start_1=68713474;refseq.start_2=68751866;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=filterInsoap-gatk GT 1/0 chr5 68885197 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.224707;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_3=c.1512G>C;refseq.codonCoord_3=504;refseq.end_1=69033837;refseq.end_2=68885197;refseq.end_3=68885197;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=499;refseq.mrnaCoord_3=1948;refseq.name2_1=LOC653391;refseq.name2_2=LOC647859;refseq.name2_3=OCLN;refseq.name_1=NR_029426;refseq.name_2=NR_026578;refseq.name_3=NM_002538;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K504N;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAG;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=68713474;refseq.start_2=68885197;refseq.start_3=68885197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asn;refseq.variantCodon_3=AAC;set=soap GT 0/1 chr5 70344007 . C T 221.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=98.79;MQ0=0;OQ=12769.69;QD=39.91;RankSumP=1.00000;SB=-4614.76;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.492G>A;refseq.codonCoord_2=164;refseq.end_1=70352231;refseq.end_2=70344007;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1210;refseq.name2_1=NAIP;refseq.name2_2=NAIP;refseq.name_1=NM_022892;refseq.name_2=NM_004536;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A164A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-77;refseq.start_1=70335451;refseq.start_2=70344007;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr5 70344018 . C T 231.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=98.71;MQ0=0;OQ=6352.23;QD=18.15;RankSumP=0.156836;SB=-2087.78;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.481G>A;refseq.codonCoord_2=161;refseq.end_1=70352231;refseq.end_2=70344018;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1199;refseq.name2_1=NAIP;refseq.name2_2=NAIP;refseq.name_1=NM_022892;refseq.name_2=NM_004536;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A161T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-88;refseq.start_1=70335451;refseq.start_2=70344018;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr5 70373777 . C T 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.912G>A;refseq.codingCoordStr_3=c.912G>A;refseq.codingCoordStr_4=c.912G>A;refseq.codingCoordStr_5=c.912G>A;refseq.codonCoord_2=304;refseq.codonCoord_3=304;refseq.codonCoord_4=304;refseq.codonCoord_5=304;refseq.end_1=70373777;refseq.end_2=70373777;refseq.end_3=70373777;refseq.end_4=70373777;refseq.end_5=70373777;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1089;refseq.mrnaCoord_2=1200;refseq.mrnaCoord_3=1125;refseq.mrnaCoord_4=1107;refseq.mrnaCoord_5=1122;refseq.name2_1=GTF2H2B;refseq.name2_2=GTF2H2D;refseq.name2_3=GTF2H2C;refseq.name2_4=GTF2H2B;refseq.name2_5=GTF2H2;refseq.name_1=NR_033417;refseq.name_2=NM_001042490;refseq.name_3=NM_001098728;refseq.name_4=NM_001098729;refseq.name_5=NM_001515;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.E304E;refseq.proteinCoordStr_3=p.E304E;refseq.proteinCoordStr_4=p.E304E;refseq.proteinCoordStr_5=p.E304E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.spliceDist_4=-14;refseq.spliceDist_5=-14;refseq.start_1=70373777;refseq.start_2=70373777;refseq.start_3=70373777;refseq.start_4=70373777;refseq.start_5=70373777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;set=soap GT 1/1 chr5 70379640 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.422105;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.706G>C;refseq.codingCoordStr_3=c.706G>C;refseq.codingCoordStr_4=c.706G>C;refseq.codingCoordStr_5=c.706G>C;refseq.codonCoord_2=236;refseq.codonCoord_3=236;refseq.codonCoord_4=236;refseq.codonCoord_5=236;refseq.end_1=70379640;refseq.end_2=70379640;refseq.end_3=70379640;refseq.end_4=70379640;refseq.end_5=70379640;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=883;refseq.mrnaCoord_2=994;refseq.mrnaCoord_3=919;refseq.mrnaCoord_4=901;refseq.mrnaCoord_5=916;refseq.name2_1=GTF2H2B;refseq.name2_2=GTF2H2D;refseq.name2_3=GTF2H2C;refseq.name2_4=GTF2H2B;refseq.name2_5=GTF2H2;refseq.name_1=NR_033417;refseq.name_2=NM_001042490;refseq.name_3=NM_001098728;refseq.name_4=NM_001098729;refseq.name_5=NM_001515;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.V236L;refseq.proteinCoordStr_3=p.V236L;refseq.proteinCoordStr_4=p.V236L;refseq.proteinCoordStr_5=p.V236L;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.start_1=70379640;refseq.start_2=70379640;refseq.start_3=70379640;refseq.start_4=70379640;refseq.start_5=70379640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;set=soap GT 1/0 chr5 70380659 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.678850;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.553C>T;refseq.codingCoordStr_3=c.553C>T;refseq.codingCoordStr_4=c.553C>T;refseq.codingCoordStr_5=c.553C>T;refseq.codonCoord_2=185;refseq.codonCoord_3=185;refseq.codonCoord_4=185;refseq.codonCoord_5=185;refseq.end_1=70380659;refseq.end_2=70380659;refseq.end_3=70380659;refseq.end_4=70380659;refseq.end_5=70380659;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=730;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=766;refseq.mrnaCoord_4=748;refseq.mrnaCoord_5=763;refseq.name2_1=GTF2H2B;refseq.name2_2=GTF2H2D;refseq.name2_3=GTF2H2C;refseq.name2_4=GTF2H2B;refseq.name2_5=GTF2H2;refseq.name_1=NR_033417;refseq.name_2=NM_001042490;refseq.name_3=NM_001098728;refseq.name_4=NM_001098729;refseq.name_5=NM_001515;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.L185L;refseq.proteinCoordStr_3=p.L185L;refseq.proteinCoordStr_4=p.L185L;refseq.proteinCoordStr_5=p.L185L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.referenceCodon_5=CTA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceDist_4=-9;refseq.spliceDist_5=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.spliceInfo_4=splice-donor_-9;refseq.spliceInfo_5=splice-donor_-9;refseq.start_1=70380659;refseq.start_2=70380659;refseq.start_3=70380659;refseq.start_4=70380659;refseq.start_5=70380659;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;refseq.variantCodon_4=TTA;refseq.variantCodon_5=TTA;set=soap GT 1/0 chr5 70386952 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.161841;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.453A>G;refseq.codingCoordStr_3=c.453A>G;refseq.codingCoordStr_4=c.453A>G;refseq.codingCoordStr_5=c.453A>G;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.codonCoord_4=151;refseq.codonCoord_5=151;refseq.end_1=70386952;refseq.end_2=70386952;refseq.end_3=70386952;refseq.end_4=70386952;refseq.end_5=70386952;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=741;refseq.mrnaCoord_3=666;refseq.mrnaCoord_4=648;refseq.mrnaCoord_5=663;refseq.name2_1=GTF2H2B;refseq.name2_2=GTF2H2D;refseq.name2_3=GTF2H2C;refseq.name2_4=GTF2H2B;refseq.name2_5=GTF2H2;refseq.name_1=NR_033417;refseq.name_2=NM_001042490;refseq.name_3=NM_001098728;refseq.name_4=NM_001098729;refseq.name_5=NM_001515;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.I151M;refseq.proteinCoordStr_3=p.I151M;refseq.proteinCoordStr_4=p.I151M;refseq.proteinCoordStr_5=p.I151M;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.spliceDist_4=-18;refseq.spliceDist_5=-18;refseq.start_1=70386952;refseq.start_2=70386952;refseq.start_3=70386952;refseq.start_4=70386952;refseq.start_5=70386952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;set=soap GT 1/0 chr5 70387008 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.392714;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.397A>G;refseq.codingCoordStr_3=c.397A>G;refseq.codingCoordStr_4=c.397A>G;refseq.codingCoordStr_5=c.397A>G;refseq.codonCoord_2=133;refseq.codonCoord_3=133;refseq.codonCoord_4=133;refseq.codonCoord_5=133;refseq.end_1=70387008;refseq.end_2=70387008;refseq.end_3=70387008;refseq.end_4=70387008;refseq.end_5=70387008;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=685;refseq.mrnaCoord_3=610;refseq.mrnaCoord_4=592;refseq.mrnaCoord_5=607;refseq.name2_1=GTF2H2B;refseq.name2_2=GTF2H2D;refseq.name2_3=GTF2H2C;refseq.name2_4=GTF2H2B;refseq.name2_5=GTF2H2;refseq.name_1=NR_033417;refseq.name_2=NM_001042490;refseq.name_3=NM_001098728;refseq.name_4=NM_001098729;refseq.name_5=NM_001515;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.K133E;refseq.proteinCoordStr_3=p.K133E;refseq.proteinCoordStr_4=p.K133E;refseq.proteinCoordStr_5=p.K133E;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.spliceDist_5=33;refseq.start_1=70387008;refseq.start_2=70387008;refseq.start_3=70387008;refseq.start_4=70387008;refseq.start_5=70387008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;set=soap GT 1/0 chr5 70787574 . T G 113.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.93;MQ0=0;OQ=3637.61;QD=29.82;RankSumP=1.00000;SB=-856.04;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.114T>G;refseq.codonCoord=38;refseq.end=70787574;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D38E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-99;refseq.start=70787574;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 70836231 . C T 220.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.80;MQ0=0;OQ=2662.11;QD=13.94;RankSumP=0.272810;SB=-1288.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2269C>T;refseq.codonCoord=757;refseq.end=70836231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2532;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R757C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=28;refseq.start=70836231;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr5 70836294 . G A 325.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.90;MQ0=0;OQ=2798.04;QD=17.27;RankSumP=0.485282;SB=-1369.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2332G>A;refseq.codonCoord=778;refseq.end=70836294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2595;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V778M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-41;refseq.start=70836294;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr5 70842213 . G A 253.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.83;MQ0=0;OQ=6771.70;QD=22.50;RankSumP=0.0893328;SB=-2837.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3538G>A;refseq.codonCoord=1180;refseq.end=70842213;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3801;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1180S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-522;refseq.start=70842213;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr5 70842405 . T A 187.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.64;MQ0=0;OQ=1587.42;QD=13.92;RankSumP=0.491495;SB=-633.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3730T>A;refseq.codonCoord=1244;refseq.end=70842405;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3993;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1244I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-330;refseq.start=70842405;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr5 70842467 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.34;MQ0=0;OQ=9358.15;QD=50.31;RankSumP=1.00000;SB=-4023.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3792C>G;refseq.codonCoord=1264;refseq.end=70842467;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4055;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1264M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-268;refseq.start=70842467;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr5 70842714 . G A 275.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=97.29;MQ0=0;OQ=17142.91;QD=41.31;RankSumP=1.00000;SB=-7078.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4039G>A;refseq.codonCoord=1347;refseq.end=70842714;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4302;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1347M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-21;refseq.start=70842714;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr5 70844925 . A G 131.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=97.55;MQ0=0;OQ=1373.54;QD=14.61;RankSumP=0.000270284;SB=-625.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4405A>G;refseq.codonCoord=1469;refseq.end=70844925;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4668;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1469E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-66;refseq.start=70844925;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 0/1 chr5 70873051 . A C 267.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=98.44;MQ0=0;OQ=9033.30;QD=34.74;RankSumP=1.00000;SB=-2403.35;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.6037A>C;refseq.codonCoord=2013;refseq.end=70873051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6300;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2013L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=15;refseq.start=70873051;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr5 70875989 . C T 146.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.69;MQ0=0;OQ=2766.95;QD=18.82;RankSumP=0.490445;SB=-682.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.6462C>T;refseq.codonCoord=2154;refseq.end=70875989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6725;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2154L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=50;refseq.start=70875989;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr5 70884777 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=23.66;MQ=98.95;MQ0=0;OQ=2823.41;QD=14.33;RankSumP=0.161983;SB=-1193.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.7074G>T;refseq.codonCoord=2358;refseq.end=70884777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7337;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2358P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=79;refseq.start=70884777;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr5 70893950 . C T 180.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.49;MQ0=0;OQ=1956.48;QD=18.12;RankSumP=0.449873;SB=-866.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.7590C>T;refseq.codonCoord=2530;refseq.end=70893950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7853;refseq.name=NM_018429;refseq.name2=BDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2530R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=94;refseq.start=70893950;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr5 70980831 . A G 335.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.93;MQ0=0;OQ=6082.50;QD=18.21;RankSumP=0.253037;SB=-1568.99;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1368A>G;refseq.codonCoord=456;refseq.end=70980831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1506;refseq.name=NM_022132;refseq.name2=MCCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A456A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=70980831;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr5 71526718 . A G 295.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.19;MQ0=0;OQ=1247.16;QD=36.68;RankSumP=1.00000;SB=-126.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1780A>G;refseq.codonCoord=594;refseq.end=71526718;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2021;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I594V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=1270;refseq.start=71526718;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr5 71528106 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3168T>G;refseq.codonCoord=1056;refseq.end=71528106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3409;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1056G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2658;refseq.start=71528106;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 71528490 . C T 366.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=98.85;MQ0=0;OQ=4434.56;QD=19.62;RankSumP=0.324667;SB=-1838.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3552C>T;refseq.codonCoord=1184;refseq.end=71528490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3793;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1184N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=3042;refseq.start=71528490;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr5 71530662 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=2;HaplotypeScore=11.16;MQ=98.73;MQ0=0;OQ=5442.34;QD=24.41;RankSumP=0.203986;SB=-2157.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5724G>A;refseq.codonCoord=1908;refseq.end=71530662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5965;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1908K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-1289;refseq.start=71530662;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr5 71530701 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.5763C>A;refseq.codonCoord=1921;refseq.end=71530701;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6004;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1921*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1250;refseq.start=71530701;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr5 71530797 . T C 326.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=98.83;MQ0=0;OQ=4489.80;QD=19.61;RankSumP=0.00587748;SB=-1906.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5859T>C;refseq.codonCoord=1953;refseq.end=71530797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6100;refseq.name=NM_005909;refseq.name2=MAP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1953G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-1154;refseq.start=71530797;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr5 71651988 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.23C>G;refseq.codonCoord=8;refseq.end=71651988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=33;refseq.name=NM_024754;refseq.name2=PTCD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=33;refseq.start=71651988;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 71653821 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.194T>G;refseq.codonCoord=65;refseq.end=71653821;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_024754;refseq.name2=PTCD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V65G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-27;refseq.start=71653821;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 71689976 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1133T>C;refseq.codonCoord=378;refseq.end=71689976;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_024754;refseq.name2=PTCD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F378S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=191;refseq.start=71689976;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr5 71775358 . G C 235.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=99.00;MQ0=0;OQ=2256.64;QD=17.63;RankSumP=0.297559;SB=-1079.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2216C>G;refseq.codonCoord=739;refseq.end=71775358;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2402;refseq.name=NM_152625;refseq.name2=ZNF366;refseq.positionType=CDS;refseq.proteinCoordStr=p.A739G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-369;refseq.start=71775358;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr5 71793022 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=213;Dels=0.00;HRun=1;HaplotypeScore=13.23;MQ=98.65;MQ0=0;OQ=2962.50;QD=13.91;RankSumP=0.0815000;SB=-1262.97;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.58A>G;refseq.codonCoord=20;refseq.end=71793022;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_152625;refseq.name2=ZNF366;refseq.positionType=CDS;refseq.proteinCoordStr=p.K20E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=72;refseq.start=71793022;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr5 71793023 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=213;Dels=0.00;HRun=2;HaplotypeScore=11.01;MQ=98.65;MQ0=0;OQ=3136.05;QD=14.72;RankSumP=0.184938;SB=-1212.00;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.57G>A;refseq.codonCoord=19;refseq.end=71793023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_152625;refseq.name2=ZNF366;refseq.positionType=CDS;refseq.proteinCoordStr=p.V19V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=71;refseq.start=71793023;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr5 72208888 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.879A>C;refseq.codingCoordStr_2=c.855A>C;refseq.codonCoord_1=293;refseq.codonCoord_2=285;refseq.end_1=72208888;refseq.end_2=72208888;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1026;refseq.mrnaCoord_2=1013;refseq.name2_1=TNPO1;refseq.name2_2=TNPO1;refseq.name_1=NM_002270;refseq.name_2=NM_153188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E293D;refseq.proteinCoordStr_2=p.E285D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=72208888;refseq.start_2=72208888;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr5 72219854 . C T 225.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=97.47;MQ0=0;OQ=1569.53;QD=19.62;RankSumP=0.282591;SB=-411.90;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1497C>T;refseq.codingCoordStr_2=c.1473C>T;refseq.codonCoord_1=499;refseq.codonCoord_2=491;refseq.end_1=72219854;refseq.end_2=72219854;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1644;refseq.mrnaCoord_2=1631;refseq.name2_1=TNPO1;refseq.name2_2=TNPO1;refseq.name_1=NM_002270;refseq.name_2=NM_153188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D499D;refseq.proteinCoordStr_2=p.D491D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=72219854;refseq.start_2=72219854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr5 72455166 . A G 47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=2.37;MQ=98.81;MQ0=0;OQ=3499.65;QD=37.63;RankSumP=1.00000;SB=-666.36;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.210A>G;refseq.codingCoordStr_2=c.210A>G;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=72455166;refseq.end_2=72455166;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=414;refseq.mrnaCoord_2=414;refseq.name2_1=TMEM171;refseq.name2_2=TMEM171;refseq.name_1=NM_001161342;refseq.name_2=NM_173490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G70G;refseq.proteinCoordStr_2=p.G70G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=278;refseq.spliceDist_2=278;refseq.start_1=72455166;refseq.start_2=72455166;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr5 72455212 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=979.08;QD=25.77;RankSumP=0.732122;SB=-332.25;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.256C>G;refseq.codingCoordStr_2=c.256C>G;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=72455212;refseq.end_2=72455212;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=460;refseq.mrnaCoord_2=460;refseq.name2_1=TMEM171;refseq.name2_2=TMEM171;refseq.name_1=NM_001161342;refseq.name_2=NM_173490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R86G;refseq.proteinCoordStr_2=p.R86G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=324;refseq.spliceDist_2=324;refseq.start_1=72455212;refseq.start_2=72455212;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr5 72455373 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=314;Dels=0.00;HRun=2;HaplotypeScore=23.32;MQ=98.63;MQ0=0;OQ=5250.35;QD=16.72;RankSumP=0.00872443;SB=-2186.97;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.417C>A;refseq.codingCoordStr_2=c.417C>A;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.end_1=72455373;refseq.end_2=72455373;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=621;refseq.name2_1=TMEM171;refseq.name2_2=TMEM171;refseq.name_1=NM_001161342;refseq.name_2=NM_173490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N139K;refseq.proteinCoordStr_2=p.N139K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-224;refseq.spliceDist_2=-224;refseq.start_1=72455373;refseq.start_2=72455373;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=filterInsoap-gatk GT 1/0 chr5 72834105 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.238A>C;refseq.codingCoordStr_2=c.106A>C;refseq.codonCoord_1=80;refseq.codonCoord_2=36;refseq.end_1=72834105;refseq.end_2=72834105;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=481;refseq.mrnaCoord_2=240;refseq.name2_1=BTF3;refseq.name2_2=BTF3;refseq.name_1=NM_001037637;refseq.name_2=NM_001207;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T80P;refseq.proteinCoordStr_2=p.T36P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=72834105;refseq.start_2=72834105;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr5 72898934 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=72898934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_032175;refseq.name2=UTP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-82;refseq.start=72898934;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 72910663 . A C 222.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=10.05;MQ=98.89;MQ0=0;OQ=3158.94;QD=14.23;RankSumP=0.295063;SB=-1314.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1212A>C;refseq.codonCoord=404;refseq.end=72910663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1435;refseq.name=NM_032175;refseq.name2=UTP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G404G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=66;refseq.start=72910663;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr5 73966507 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=7.11;MQ=98.80;MQ0=0;OQ=11714.25;QD=40.39;RankSumP=1.00000;SB=-4957.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1560G>A;refseq.codonCoord=520;refseq.end=73966507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2691;refseq.name=NM_003633;refseq.name2=ENC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K520K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-243;refseq.start=73966507;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr5 73967002 . T C 151.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=16.08;MQ=98.66;MQ0=0;OQ=14169.28;QD=36.61;RankSumP=1.00000;SB=-4339.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1065A>G;refseq.codonCoord=355;refseq.end=73967002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2196;refseq.name=NM_003633;refseq.name2=ENC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S355S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-738;refseq.start=73967002;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 74017026 . T C 124.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.11;MQ0=0;OQ=1310.15;QD=31.19;RankSumP=1.00000;SB=-155.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.185T>C;refseq.codonCoord=62;refseq.end=74017026;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_000521;refseq.name2=HEXB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L62S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-115;refseq.start=74017026;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 74053255 . C T 213.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1472.08;QD=19.12;RankSumP=0.355708;SB=-497.48;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2321G>A;refseq.codingCoordStr_2=c.2180G>A;refseq.codonCoord_1=774;refseq.codonCoord_2=727;refseq.end_1=74053255;refseq.end_2=74053255;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2625;refseq.mrnaCoord_2=2484;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170691;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R774Q;refseq.proteinCoordStr_2=p.R727Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.start_1=74053255;refseq.start_2=74053255;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr5 74057608 . A T 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.402905;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1826T>A;refseq.codingCoordStr_2=c.1685T>A;refseq.codonCoord_1=609;refseq.codonCoord_2=562;refseq.end_1=74057608;refseq.end_2=74057608;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2130;refseq.mrnaCoord_2=1989;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170691;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F609Y;refseq.proteinCoordStr_2=p.F562Y;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=74057608;refseq.start_2=74057608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=soap GT 0/1 chr5 74057609 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.486057;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1825T>A;refseq.codingCoordStr_2=c.1684T>A;refseq.codonCoord_1=609;refseq.codonCoord_2=562;refseq.end_1=74057609;refseq.end_2=74057609;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2129;refseq.mrnaCoord_2=1988;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170691;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F609I;refseq.proteinCoordStr_2=p.F562I;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=74057609;refseq.start_2=74057609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=soap GT 0/1 chr5 74057611 . T A 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.331579;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1823A>T;refseq.codingCoordStr_2=c.1682A>T;refseq.codonCoord_1=608;refseq.codonCoord_2=561;refseq.end_1=74057611;refseq.end_2=74057611;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2127;refseq.mrnaCoord_2=1986;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170691;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E608V;refseq.proteinCoordStr_2=p.E561V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.start_1=74057611;refseq.start_2=74057611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 1/0 chr5 74073142 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=61;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=98.69;MQ0=0;OQ=1089.98;QD=17.87;RankSumP=0.702106;SB=-435.46;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.898A>T;refseq.codingCoordStr_2=c.898A>T;refseq.codingCoordStr_3=c.898A>T;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.codonCoord_3=300;refseq.end_1=74073142;refseq.end_2=74073142;refseq.end_3=74073142;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1202;refseq.mrnaCoord_2=1202;refseq.mrnaCoord_3=1202;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name2_3=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170681;refseq.name_3=NM_170691;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S300C;refseq.proteinCoordStr_2=p.S300C;refseq.proteinCoordStr_3=p.S300C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=74073142;refseq.start_2=74073142;refseq.start_3=74073142;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/0 chr5 74090965 . T C 191.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=98.68;MQ0=0;OQ=11110.01;QD=18.58;RankSumP=0.174581;SB=-4163.80;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.191A>G;refseq.codingCoordStr_2=c.191A>G;refseq.codingCoordStr_3=c.191A>G;refseq.codonCoord_1=64;refseq.codonCoord_2=64;refseq.codonCoord_3=64;refseq.end_1=74090965;refseq.end_2=74090965;refseq.end_3=74090965;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=495;refseq.mrnaCoord_2=495;refseq.mrnaCoord_3=495;refseq.name2_1=GFM2;refseq.name2_2=GFM2;refseq.name2_3=GFM2;refseq.name_1=NM_032380;refseq.name_2=NM_170681;refseq.name_3=NM_170691;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N64S;refseq.proteinCoordStr_2=p.N64S;refseq.proteinCoordStr_3=p.N64S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=74090965;refseq.start_2=74090965;refseq.start_3=74090965;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr5 74105619 . A G 294.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=97.21;MQ0=0;OQ=7788.76;QD=18.81;RankSumP=0.219324;SB=-2303.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.693A>G;refseq.codonCoord=231;refseq.end=74105619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_014886;refseq.name2=NSA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T231T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-23;refseq.start=74105619;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr5 74127646 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1225A>C;refseq.codonCoord=409;refseq.end=74127646;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_015566;refseq.name2=FAM169A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T409P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-36;refseq.start=74127646;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 74686699 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.1626A>G;refseq.codonCoord_2=542;refseq.end_1=74686935;refseq.end_2=74686699;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1782;refseq.name2_1=HMGCR;refseq.name2_2=HMGCR;refseq.name_1=NM_001130996;refseq.name_2=NM_000859;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G542G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=63;refseq.start_1=74686289;refseq.start_2=74686699;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr5 74711006 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=6.97;MQ=98.32;MQ0=0;OQ=1947.36;QD=14.75;RankSumP=0.339853;SB=-768.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2180A>G;refseq.codingCoordStr_2=c.1796A>G;refseq.codingCoordStr_3=c.1718A>G;refseq.codonCoord_1=727;refseq.codonCoord_2=599;refseq.codonCoord_3=573;refseq.end_1=74711006;refseq.end_2=74711006;refseq.end_3=74711006;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2317;refseq.mrnaCoord_2=2218;refseq.mrnaCoord_3=2140;refseq.name2_1=COL4A3BP;refseq.name2_2=COL4A3BP;refseq.name2_3=COL4A3BP;refseq.name_1=NM_001130105;refseq.name_2=NM_005713;refseq.name_3=NM_031361;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K727R;refseq.proteinCoordStr_2=p.K599R;refseq.proteinCoordStr_3=p.K573R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=74711006;refseq.start_2=74711006;refseq.start_3=74711006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/0 chr5 75463691 . G A 333.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.81;MQ0=0;OQ=15047.13;QD=42.15;RankSumP=1.00000;SB=-4122.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.360G>A;refseq.codonCoord=120;refseq.end=75463691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_014979;refseq.name2=SV2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R120R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-221;refseq.start=75463691;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr5 75526648 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=863;Dels=0.00;HRun=3;HaplotypeScore=36.30;MQ=98.44;MQ0=0;OQ=407.30;QD=0.47;RankSumP=0.00000;SB=1555.23;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.729C>T;refseq.codonCoord=243;refseq.end=75526648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_014979;refseq.name2=SV2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.F243F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-33;refseq.start=75526648;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr5 75920490 . G A 262.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=10.22;MQ=98.56;MQ0=0;OQ=2260.59;QD=17.66;RankSumP=0.381270;SB=-678.64;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.462G>A;refseq.codonCoord=154;refseq.end=75920490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L154L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=75920490;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr5 75949446 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.292873;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.842G>C;refseq.codonCoord_2=281;refseq.end_1=75958980;refseq.end_2=75949446;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1027;refseq.name2_1=IQGAP2;refseq.name2_2=F2RL2;refseq.name_1=NM_006633;refseq.name_2=NM_004101;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C281S;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=778;refseq.start_1=75942775;refseq.start_2=75949446;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr5 75949558 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.730A>C;refseq.codonCoord_2=244;refseq.end_1=75958980;refseq.end_2=75949558;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=915;refseq.name2_1=IQGAP2;refseq.name2_2=F2RL2;refseq.name_1=NM_006633;refseq.name_2=NM_004101;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T244P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=666;refseq.start_1=75942775;refseq.start_2=75949558;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr5 75959041 . C T 433.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.06;MQ0=0;OQ=4672.91;QD=41.72;RankSumP=1.00000;SB=-1834.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1572C>T;refseq.codonCoord=524;refseq.end=75959041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1794;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A524A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-41;refseq.start=75959041;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr5 75959050 . T G 321.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.07;MQ0=0;OQ=4072.69;QD=39.54;RankSumP=1.00000;SB=-1407.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1581T>G;refseq.codonCoord=527;refseq.end=75959050;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1803;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D527E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-32;refseq.start=75959050;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 75959063 . A G 362.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.99;MQ0=0;OQ=3171.75;QD=37.76;RankSumP=1.00000;SB=-663.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1594A>G;refseq.codonCoord=532;refseq.end=75959063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1816;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K532E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-19;refseq.start=75959063;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 75968625 . C T 368.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.95;MQ0=0;OQ=9982.15;QD=41.94;RankSumP=1.00000;SB=-3908.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1791C>T;refseq.codonCoord=597;refseq.end=75968625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2013;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D597D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=11;refseq.start=75968625;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr5 75968721 . G C 95.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.22;MQ=98.85;MQ0=0;OQ=13586.61;QD=48.52;RankSumP=1.00000;SB=-6650.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1887G>C;refseq.codonCoord=629;refseq.end=75968721;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L629F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-37;refseq.start=75968721;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr5 75984406 . A G 327.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=11.95;MQ=98.42;MQ0=0;OQ=5517.09;QD=18.45;RankSumP=0.114315;SB=-1574.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2170A>G;refseq.codonCoord=724;refseq.end=75984406;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2392;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I724V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=75984406;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr5 75996621 . T C 104.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=97.87;MQ0=0;OQ=912.49;QD=13.83;RankSumP=0.256113;SB=-108.77;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2544T>C;refseq.codonCoord=848;refseq.end=75996621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2766;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H848H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=15;refseq.start=75996621;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr5 76000263 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.92;MQ0=0;OQ=2186.17;QD=13.49;RankSumP=0.495251;SB=-498.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2681C>T;refseq.codonCoord=894;refseq.end=76000263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2903;refseq.name=NM_006633;refseq.name2=IQGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T894I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=76000263;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 76164277 . G A 287.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=5.16;MQ=98.57;MQ0=0;OQ=12400.59;QD=43.51;RankSumP=1.00000;SB=-3622.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.89G>A;refseq.codonCoord=30;refseq.end=76164277;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_005242;refseq.name2=F2RL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S30N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=76164277;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr5 76164809 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=369;Dels=0.00;HRun=2;HaplotypeScore=26.60;MQ=98.18;MQ0=0;OQ=11858.69;QD=32.14;RankSumP=1.00000;SB=-1806.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=76164809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_005242;refseq.name2=F2RL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I207I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=539;refseq.start=76164809;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 76285253 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=0.156159;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.153G>C;refseq.codonCoord=51;refseq.end=76285253;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_001882;refseq.name2=CRHBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E51D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-23;refseq.start=76285253;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr5 76285714 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.280A>C;refseq.codonCoord=94;refseq.end=76285714;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_001882;refseq.name2=CRHBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T94P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-54;refseq.start=76285714;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 76362475 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.128T>G;refseq.codonCoord=43;refseq.end=76362475;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_018046;refseq.name2=AGGF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V43G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-83;refseq.start=76362475;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 76394780 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=850.50;QD=13.29;RankSumP=0.350080;SB=-324.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2092C>A;refseq.codonCoord=698;refseq.end=76394780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2452;refseq.name=NM_018046;refseq.name2=AGGF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P698T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=148;refseq.start=76394780;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr5 76682659 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.1031T>G;refseq.codingCoordStr_3=c.971T>G;refseq.codingCoordStr_4=c.890T>G;refseq.codingCoordStr_5=c.1031T>G;refseq.codonCoord_2=344;refseq.codonCoord_3=324;refseq.codonCoord_4=297;refseq.codonCoord_5=344;refseq.end_1=76731818;refseq.end_2=76682659;refseq.end_3=76682659;refseq.end_4=76682659;refseq.end_5=76682659;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1076;refseq.mrnaCoord_3=1016;refseq.mrnaCoord_4=935;refseq.mrnaCoord_5=1076;refseq.name2_1=PDE8B;refseq.name2_2=PDE8B;refseq.name2_3=PDE8B;refseq.name2_4=PDE8B;refseq.name2_5=PDE8B;refseq.name_1=NM_001029851;refseq.name_2=NM_001029852;refseq.name_3=NM_001029853;refseq.name_4=NM_001029854;refseq.name_5=NM_003719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.V344G;refseq.proteinCoordStr_3=p.V324G;refseq.proteinCoordStr_4=p.V297G;refseq.proteinCoordStr_5=p.V344G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.spliceDist_5=14;refseq.start_1=76676523;refseq.start_2=76682659;refseq.start_3=76682659;refseq.start_4=76682659;refseq.start_5=76682659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 1/0 chr5 76740605 . T C 99.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=3.00;MQ=98.62;MQ0=0;OQ=6286.25;QD=40.56;RankSumP=1.00000;SB=-1952.13;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_2=c.1206T>C;refseq.codingCoordStr_3=c.1437T>C;refseq.codingCoordStr_4=c.1356T>C;refseq.codingCoordStr_5=c.1497T>C;refseq.codonCoord_2=402;refseq.codonCoord_3=479;refseq.codonCoord_4=452;refseq.codonCoord_5=499;refseq.end_1=76743246;refseq.end_2=76740605;refseq.end_3=76740605;refseq.end_4=76740605;refseq.end_5=76740605;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1251;refseq.mrnaCoord_3=1482;refseq.mrnaCoord_4=1401;refseq.mrnaCoord_5=1542;refseq.name2_1=PDE8B;refseq.name2_2=PDE8B;refseq.name2_3=PDE8B;refseq.name2_4=PDE8B;refseq.name2_5=PDE8B;refseq.name_1=NM_001029852;refseq.name_2=NM_001029851;refseq.name_3=NM_001029853;refseq.name_4=NM_001029854;refseq.name_5=NM_003719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.P402P;refseq.proteinCoordStr_3=p.P479P;refseq.proteinCoordStr_4=p.P452P;refseq.proteinCoordStr_5=p.P499P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.spliceDist_5=-34;refseq.start_1=76739049;refseq.start_2=76740605;refseq.start_3=76740605;refseq.start_4=76740605;refseq.start_5=76740605;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=Intersection GT 1/1 chr5 76744743 . A G 292.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.51;MQ0=0;OQ=12285.23;QD=39.50;RankSumP=1.00000;SB=-5438.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.1473A>G;refseq.codingCoordStr_2=c.1599A>G;refseq.codingCoordStr_3=c.1704A>G;refseq.codingCoordStr_4=c.1623A>G;refseq.codingCoordStr_5=c.1764A>G;refseq.codonCoord_1=491;refseq.codonCoord_2=533;refseq.codonCoord_3=568;refseq.codonCoord_4=541;refseq.codonCoord_5=588;refseq.end_1=76744743;refseq.end_2=76744743;refseq.end_3=76744743;refseq.end_4=76744743;refseq.end_5=76744743;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1518;refseq.mrnaCoord_2=1644;refseq.mrnaCoord_3=1749;refseq.mrnaCoord_4=1668;refseq.mrnaCoord_5=1809;refseq.name2_1=PDE8B;refseq.name2_2=PDE8B;refseq.name2_3=PDE8B;refseq.name2_4=PDE8B;refseq.name2_5=PDE8B;refseq.name_1=NM_001029851;refseq.name_2=NM_001029852;refseq.name_3=NM_001029853;refseq.name_4=NM_001029854;refseq.name_5=NM_003719;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E491E;refseq.proteinCoordStr_2=p.E533E;refseq.proteinCoordStr_3=p.E568E;refseq.proteinCoordStr_4=p.E541E;refseq.proteinCoordStr_5=p.E588E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.spliceDist_5=52;refseq.start_1=76744743;refseq.start_2=76744743;refseq.start_3=76744743;refseq.start_4=76744743;refseq.start_5=76744743;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;refseq.variantCodon_5=GAG;set=Intersection GT 1/1 chr5 76764752 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=303;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.74;MQ0=0;OQ=6910.62;QD=22.81;RankSumP=0.216871;SB=-2321.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1344A>G;refseq.codonCoord=448;refseq.end=76764752;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_018268;refseq.name2=WDR41;refseq.positionType=CDS;refseq.proteinCoordStr=p.K448K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=117;refseq.start=76764752;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr5 76769840 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=973;Dels=0.00;HRun=0;HaplotypeScore=21.08;MQ=98.82;MQ0=0;OQ=19432.60;QD=19.97;RankSumP=0.332361;SB=-6363.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.985G>A;refseq.codonCoord=329;refseq.end=76769840;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_018268;refseq.name2=WDR41;refseq.positionType=CDS;refseq.proteinCoordStr=p.V329I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-20;refseq.start=76769840;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr5 76962334 . T C 170.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.86;MQ0=0;OQ=1453.11;QD=33.79;RankSumP=1.00000;SB=-701.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.489A>G;refseq.codonCoord=163;refseq.end=76962334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_032109;refseq.name2=OTP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K163K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=42;refseq.start=76962334;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr5 77447767 . A G 236.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=8.39;MQ=98.78;MQ0=0;OQ=4447.18;QD=19.17;RankSumP=0.444545;SB=-1862.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2016T>C;refseq.codonCoord=672;refseq.end=77447767;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2141;refseq.name=NM_003664;refseq.name2=AP3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A672A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=48;refseq.start=77447767;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr5 77460784 . A T 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5930.02;QD=40.07;RankSumP=1.00000;SB=-2411.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1754T>A;refseq.codonCoord=585;refseq.end=77460784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1879;refseq.name=NM_003664;refseq.name2=AP3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V585E;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-84;refseq.start=77460784;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr5 77494498 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1264G>C;refseq.codonCoord=422;refseq.end=77494498;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1389;refseq.name=NM_003664;refseq.name2=AP3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A422P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=34;refseq.start=77494498;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr5 77508921 . A G 195.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=9.32;MQ=98.49;MQ0=0;OQ=2743.26;QD=15.95;RankSumP=0.345186;SB=-275.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1038T>C;refseq.codonCoord=346;refseq.end=77508921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_003664;refseq.name2=AP3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N346N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=77508921;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 77820494 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=1;HaplotypeScore=10.71;MQ=98.78;MQ0=0;OQ=15002.19;QD=41.21;RankSumP=1.00000;SB=-7138.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.669T>C;refseq.codonCoord=223;refseq.end=77820494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1345;refseq.name=NM_005779;refseq.name2=LHFPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N223N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=239;refseq.start=77820494;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr5 78217179 . C T 287.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=98.25;MQ0=0;OQ=7253.74;QD=18.18;RankSumP=0.406702;SB=-3039.31;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1126G>A;refseq.codingCoordStr_2=c.1126G>A;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.end_1=78217179;refseq.end_2=78217179;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2412;refseq.mrnaCoord_2=1481;refseq.name2_1=ARSB;refseq.name2_2=ARSB;refseq.name_1=NM_000046;refseq.name_2=NM_198709;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V376M;refseq.proteinCoordStr_2=p.V376M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=78217179;refseq.start_2=78217179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr5 78217233 . C T 332.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=11.10;MQ=98.68;MQ0=0;OQ=6996.75;QD=18.91;RankSumP=0.115076;SB=-2948.98;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1072G>A;refseq.codingCoordStr_2=c.1072G>A;refseq.codonCoord_1=358;refseq.codonCoord_2=358;refseq.end_1=78217233;refseq.end_2=78217233;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2358;refseq.mrnaCoord_2=1427;refseq.name2_1=ARSB;refseq.name2_2=ARSB;refseq.name_1=NM_000046;refseq.name_2=NM_198709;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V358M;refseq.proteinCoordStr_2=p.V358M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=78217233;refseq.start_2=78217233;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr5 78217333 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=152;Dels=0.00;HRun=2;HaplotypeScore=5.01;MQ=98.45;MQ0=0;OQ=2253.32;QD=14.82;RankSumP=0.0716754;SB=-814.48;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.972A>G;refseq.codingCoordStr_2=c.972A>G;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.end_1=78217333;refseq.end_2=78217333;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2258;refseq.mrnaCoord_2=1327;refseq.name2_1=ARSB;refseq.name2_2=ARSB;refseq.name_1=NM_000046;refseq.name_2=NM_198709;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G324G;refseq.proteinCoordStr_2=p.G324G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=78217333;refseq.start_2=78217333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr5 78376013 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=339;Dels=0.00;HRun=2;HaplotypeScore=8.90;MQ=98.87;MQ0=0;OQ=7277.52;QD=21.47;RankSumP=0.226369;SB=-3105.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.864G>C;refseq.codonCoord=288;refseq.end=78376013;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_013391;refseq.name2=DMGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L288L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=119;refseq.start=78376013;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr5 78376042 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=18.50;MQ=98.91;MQ0=0;OQ=5670.86;QD=19.42;RankSumP=0.256699;SB=-1874.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.835T>C;refseq.codonCoord=279;refseq.end=78376042;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_013391;refseq.name2=DMGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S279P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=90;refseq.start=78376042;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr5 78376052 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=273;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=98.87;MQ0=0;OQ=5595.68;QD=20.50;RankSumP=0.0977832;SB=-1645.35;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.825A>C;refseq.codonCoord=275;refseq.end=78376052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_013391;refseq.name2=DMGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T275T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=80;refseq.start=78376052;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr5 78387392 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=98.79;MQ0=0;OQ=1031.49;QD=13.94;RankSumP=0.143816;SB=-316.83;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.372T>G;refseq.codonCoord=124;refseq.end=78387392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_013391;refseq.name2=DMGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.G124G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=78387392;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr5 78409187 . C T 256.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.14;MQ0=0;OQ=2468.89;QD=14.96;RankSumP=0.260865;SB=-944.93;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.162C>T;refseq.codonCoord=54;refseq.end=78409187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_017614;refseq.name2=BHMT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D54D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=78409187;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr5 78462633 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1159G>A;refseq.codonCoord=387;refseq.end=78462633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_001713;refseq.name2=BHMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E387K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=122;refseq.start=78462633;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr5 78609546 . A T 213.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=9.19;MQ=98.84;MQ0=0;OQ=5908.68;QD=18.58;RankSumP=0.273312;SB=-1665.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1090A>T;refseq.codonCoord=364;refseq.end=78609546;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1639;refseq.name=NM_152405;refseq.name2=JMY;refseq.positionType=CDS;refseq.proteinCoordStr=p.M364L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=58;refseq.start=78609546;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr5 78770605 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=350;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=98.87;MQ0=0;OQ=7434.97;QD=21.24;RankSumP=0.292554;SB=-2969.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.511T>C;refseq.codonCoord=171;refseq.end=78770605;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1614;refseq.name=NM_004272;refseq.name2=HOMER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L171L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-17;refseq.start=78770605;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 79387491 . C T 107.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=3.45;MQ=98.64;MQ0=0;OQ=1124.76;QD=14.24;RankSumP=0.364517;SB=-516.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.420C>T;refseq.codonCoord=140;refseq.end=79387491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_003248;refseq.name2=THBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S140S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-121;refseq.start=79387491;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr5 79387608 rs438042 A T 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.25;MQ0=0;OQ=317.55;QD=4.96;SB=-131.71;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.537A>T;refseq.codonCoord=179;refseq.end=79387608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_003248;refseq.name2=THBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P179P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=79387608;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=gatk GT:AD:DP:GL:GQ 0/1:48,16:46:-48.89,-13.85,-136.26:99 chr5 79652045 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=151;Dels=0.00;HRun=2;HaplotypeScore=13.89;MQ=91.93;MQ0=0;OQ=213.23;QD=1.41;RankSumP=0.00000;SB=143.49;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.255T>G;refseq.codonCoord=85;refseq.end=79652045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_032567;refseq.name2=SPZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G85G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=500;refseq.start=79652045;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 79768835 . T C 340.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.94;MQ0=0;OQ=9271.89;QD=42.34;RankSumP=1.00000;SB=-3058.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.575T>C;refseq.codingCoordStr_2=c.575T>C;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=79768835;refseq.end_2=79768835;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=877;refseq.mrnaCoord_2=749;refseq.name2_1=ZFYVE16;refseq.name2_2=ZFYVE16;refseq.name_1=NM_001105251;refseq.name_2=NM_014733;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I192T;refseq.proteinCoordStr_2=p.I192T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=505;refseq.spliceDist_2=505;refseq.start_1=79768835;refseq.start_2=79768835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr5 79770053 . T C 422.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=5749.64;QD=41.07;RankSumP=1.00000;SB=-2720.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1793T>C;refseq.codingCoordStr_2=c.1793T>C;refseq.codonCoord_1=598;refseq.codonCoord_2=598;refseq.end_1=79770053;refseq.end_2=79770053;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2095;refseq.mrnaCoord_2=1967;refseq.name2_1=ZFYVE16;refseq.name2_2=ZFYVE16;refseq.name_1=NM_001105251;refseq.name_2=NM_014733;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I598T;refseq.proteinCoordStr_2=p.I598T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-530;refseq.spliceDist_2=-530;refseq.start_1=79770053;refseq.start_2=79770053;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr5 79770165 . G A 262.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.73;MQ0=0;OQ=10651.84;QD=43.66;RankSumP=1.00000;SB=-4744.93;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1905G>A;refseq.codingCoordStr_2=c.1905G>A;refseq.codonCoord_1=635;refseq.codonCoord_2=635;refseq.end_1=79770165;refseq.end_2=79770165;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2207;refseq.mrnaCoord_2=2079;refseq.name2_1=ZFYVE16;refseq.name2_2=ZFYVE16;refseq.name_1=NM_001105251;refseq.name_2=NM_014733;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S635S;refseq.proteinCoordStr_2=p.S635S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-418;refseq.spliceDist_2=-418;refseq.start_1=79770165;refseq.start_2=79770165;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr5 79781225 . A G 325.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.88;MQ0=0;OQ=11671.09;QD=41.24;RankSumP=1.00000;SB=-4578.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.3163A>G;refseq.codingCoordStr_2=c.3163A>G;refseq.codonCoord_1=1055;refseq.codonCoord_2=1055;refseq.end_1=79781225;refseq.end_2=79781225;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3465;refseq.mrnaCoord_2=3337;refseq.name2_1=ZFYVE16;refseq.name2_2=ZFYVE16;refseq.name_1=NM_001105251;refseq.name_2=NM_014733;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1055G;refseq.proteinCoordStr_2=p.S1055G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=79781225;refseq.start_2=79781225;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr5 79851414 . T C 135.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=493;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=98.80;MQ0=0;OQ=20787.60;QD=42.17;RankSumP=1.00000;SB=-9907.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.464T>C;refseq.codonCoord=155;refseq.end=79851414;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_205548;refseq.name2=FAM151B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I155T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-72;refseq.start=79851414;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 79891128 . A G 121.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=530;Dels=0.00;HRun=0;HaplotypeScore=10.67;MQ=98.75;MQ0=0;OQ=20207.48;QD=38.13;RankSumP=1.00000;SB=-9475.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.467T>C;refseq.codonCoord=156;refseq.end=79891128;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1137;refseq.name=NM_001004441;refseq.name2=ANKRD34B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L156S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=490;refseq.start=79891128;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 80076168 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=3.94241e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1741A>C;refseq.codonCoord=581;refseq.end=80076168;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_002439;refseq.name2=MSH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T581P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-23;refseq.start=80076168;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 80185737 . A G 312.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=98.58;MQ0=0;OQ=8028.34;QD=38.41;RankSumP=1.00000;SB=-3103.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2846A>G;refseq.codonCoord=949;refseq.end=80185737;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3099;refseq.name=NM_002439;refseq.name2=MSH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q949R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=33;refseq.start=80185737;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 80204693 . G A 151.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=21254.89;QD=42.26;RankSumP=1.00000;SB=-8126.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3133G>A;refseq.codonCoord=1045;refseq.end=80204693;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3386;refseq.name=NM_002439;refseq.name2=MSH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1045T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=80204693;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 80292420 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.107C>G;refseq.codonCoord=36;refseq.end=80292420;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_006909;refseq.name2=RASGRF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A36G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=107;refseq.start=80292420;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 80445485 . T C 164.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=98.90;MQ0=0;OQ=16518.94;QD=41.71;RankSumP=1.00000;SB=-8163.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2460T>C;refseq.codonCoord=820;refseq.end=80445485;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2460;refseq.name=NM_006909;refseq.name2=RASGRF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S820S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-11;refseq.start=80445485;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 80636375 . C G 289.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.63;MQ0=0;OQ=3066.40;QD=15.41;RankSumP=0.306697;SB=-1276.81;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.43C>G;refseq.codingCoordStr_2=c.43C>G;refseq.codingCoordStr_3=c.43C>G;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.end_1=80636375;refseq.end_2=80636375;refseq.end_3=80636375;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=176;refseq.mrnaCoord_2=148;refseq.mrnaCoord_3=533;refseq.name2_1=ZCCHC9;refseq.name2_2=ZCCHC9;refseq.name2_3=ZCCHC9;refseq.name_1=NM_001131035;refseq.name_2=NM_001131036;refseq.name_3=NM_032280;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P15A;refseq.proteinCoordStr_2=p.P15A;refseq.proteinCoordStr_3=p.P15A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=80636375;refseq.start_2=80636375;refseq.start_3=80636375;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr5 80667398 . C T 318.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.64;MQ0=0;OQ=2133.48;QD=18.08;RankSumP=0.103547;SB=-928.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1207G>A;refseq.codonCoord=403;refseq.end=80667398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1262;refseq.name=NM_130767;refseq.name2=ACOT12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A403T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-56;refseq.start=80667398;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr5 81584972 . C T 288.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=462;Dels=0.00;HRun=0;HaplotypeScore=7.85;MQ=98.50;MQ0=0;OQ=19485.09;QD=42.18;RankSumP=1.00000;SB=-4736.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.635C>T;refseq.codingCoordStr_2=c.635C>T;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=81584972;refseq.end_2=81584972;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1064;refseq.mrnaCoord_2=929;refseq.name2_1=ATG10;refseq.name2_2=ATG10;refseq.name_1=NM_001131028;refseq.name_2=NM_031482;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T212M;refseq.proteinCoordStr_2=p.T212M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=81584972;refseq.start_2=81584972;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr5 81584996 . C A 431.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=98.54;MQ0=0;OQ=10910.79;QD=38.69;RankSumP=1.00000;SB=-1343.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.659C>A;refseq.codingCoordStr_2=c.659C>A;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.end_1=81584996;refseq.end_2=81584996;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1088;refseq.mrnaCoord_2=953;refseq.name2_1=ATG10;refseq.name2_2=ATG10;refseq.name_1=NM_001131028;refseq.name_2=NM_031482;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P220H;refseq.proteinCoordStr_2=p.P220H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=81584996;refseq.start_2=81584996;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr5 81636986 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=191;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=98.85;MQ0=0;OQ=3860.48;QD=20.21;RankSumP=0.180833;SB=-741.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.10T>C;refseq.codonCoord=4;refseq.end=81636986;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=65;refseq.name=NM_001017971;refseq.name2=ATP6AP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.W4R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=65;refseq.start=81636986;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr5 82873462 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_3=c.5923A>C;refseq.codingCoordStr_4=c.8884A>C;refseq.codonCoord_3=1975;refseq.codonCoord_4=2962;refseq.end_1=82877101;refseq.end_2=82877101;refseq.end_3=82873462;refseq.end_4=82873462;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=6279;refseq.mrnaCoord_4=9240;refseq.name2_1=VCAN;refseq.name2_2=VCAN;refseq.name2_3=VCAN;refseq.name2_4=VCAN;refseq.name_1=NM_001126336;refseq.name_2=NM_001164098;refseq.name_3=NM_001164097;refseq.name_4=NM_004385;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T1975P;refseq.proteinCoordStr_4=p.T2962P;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_3=-382;refseq.spliceDist_4=-382;refseq.start_1=82843982;refseq.start_2=82853895;refseq.start_3=82873462;refseq.start_4=82873462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=FilteredInAll GT 0/1 chr5 82911556 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=530;Dels=0.00;HRun=1;HaplotypeScore=4.90;MQ=98.74;MQ0=0;OQ=12403.97;QD=23.40;RankSumP=0.281226;SB=-3330.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.1659C>T;refseq.codingCoordStr_2=c.6921C>T;refseq.codingCoordStr_3=c.4620C>T;refseq.codingCoordStr_4=c.9882C>T;refseq.codonCoord_1=553;refseq.codonCoord_2=2307;refseq.codonCoord_3=1540;refseq.codonCoord_4=3294;refseq.end_1=82911556;refseq.end_2=82911556;refseq.end_3=82911556;refseq.end_4=82911556;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2015;refseq.mrnaCoord_2=7277;refseq.mrnaCoord_3=4976;refseq.mrnaCoord_4=10238;refseq.name2_1=VCAN;refseq.name2_2=VCAN;refseq.name2_3=VCAN;refseq.name2_4=VCAN;refseq.name_1=NM_001126336;refseq.name_2=NM_001164097;refseq.name_3=NM_001164098;refseq.name_4=NM_004385;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V553V;refseq.proteinCoordStr_2=p.V2307V;refseq.proteinCoordStr_3=p.V1540V;refseq.proteinCoordStr_4=p.V3294V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.start_1=82911556;refseq.start_2=82911556;refseq.start_3=82911556;refseq.start_4=82911556;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=Intersection GT 0/1 chr5 86740926 . C A 39.05 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=99;Dels=0.00;HRun=2;HaplotypeScore=10.56;MQ=98.00;MQ0=0;QD=0.39;RankSumP=5.33808e-09;SB=98.36;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.251G>T;refseq.codonCoord=84;refseq.end=86740926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_001239;refseq.name2=CCNH;refseq.positionType=CDS;refseq.proteinCoordStr=p.C84F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=11;refseq.start=86740926;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr5 87534605 . G A 72.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=5248.19;QD=43.73;RankSumP=1.00000;SB=-2017.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.844C>T;refseq.codonCoord=282;refseq.end=87534605;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_153354;refseq.name2=TMEM161B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L282L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=44;refseq.start=87534605;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr5 87538706 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.468554;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.494G>C;refseq.codonCoord=165;refseq.end=87538706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_153354;refseq.name2=TMEM161B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G165A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=48;refseq.start=87538706;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr5 87552259 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.323T>G;refseq.codonCoord=108;refseq.end=87552259;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_153354;refseq.name2=TMEM161B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V108G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=34;refseq.start=87552259;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 87572384 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr5;refseq.codingCoordStr=c.107+2;refseq.end=87572384;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_153354;refseq.name2=TMEM161B;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=87572384;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr5 89805484 . T C 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.45;MQ0=0;OQ=1104.70;QD=32.49;RankSumP=1.00000;SB=-479.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.382A>G;refseq.codonCoord=128;refseq.end=89805484;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_203406;refseq.name2=MBLAC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T128A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-73;refseq.start=89805484;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr5 89805755 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=2.64;MQ=98.16;MQ0=0;OQ=1737.35;QD=21.19;RankSumP=0.494608;SB=-227.71;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.111C>T;refseq.codonCoord=37;refseq.end=89805755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_203406;refseq.name2=MBLAC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G37G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-344;refseq.start=89805755;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr5 89856740 . T C 385.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.70;MQ0=0;OQ=10271.42;QD=41.92;RankSumP=1.00000;SB=-3831.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.123A>G;refseq.codonCoord=41;refseq.end=89856740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_198273;refseq.name2=LYSMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E41E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-133;refseq.start=89856740;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 89856853 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=223;Dels=0.00;HRun=3;HaplotypeScore=14.96;MQ=97.93;MQ0=0;OQ=135.74;QD=0.61;RankSumP=0.00000;SB=260.91;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=89856853;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=158;refseq.name=NM_198273;refseq.name2=LYSMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=21;refseq.start=89856853;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 93882315 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.364T>C;refseq.codingCoordStr_2=c.364T>C;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=93882315;refseq.end_2=93882315;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=621;refseq.name2_1=C5orf36;refseq.name2_2=C5orf36;refseq.name_1=NM_001145678;refseq.name_2=NM_173665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S122P;refseq.proteinCoordStr_2=p.S122P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=93882315;refseq.start_2=93882315;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr5 94053026 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=92;Dels=0.00;HRun=2;HaplotypeScore=45.62;MQ=96.08;MQ0=0;OQ=62.26;QD=0.68;RankSumP=0.00000;SB=53.21;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2421A>G;refseq.codonCoord=807;refseq.end=94053026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2501;refseq.name=NM_032290;refseq.name2=ANKRD32;refseq.positionType=CDS;refseq.proteinCoordStr=p.G807G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=94053026;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 94056574 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2978G>T;refseq.codonCoord=993;refseq.end=94056574;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3058;refseq.name=NM_032290;refseq.name2=ANKRD32;refseq.positionType=CDS;refseq.proteinCoordStr=p.C993F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=283;refseq.start=94056574;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr5 94076243 . T A 262.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=98.66;MQ0=0;OQ=5906.00;QD=20.51;RankSumP=0.0583073;SB=-1740.99;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2052A>T;refseq.codingCoordStr_2=c.2715A>T;refseq.codonCoord_1=684;refseq.codonCoord_2=905;refseq.end_1=94076243;refseq.end_2=94076243;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2411;refseq.mrnaCoord_2=2715;refseq.name2_1=MCTP1;refseq.name2_2=MCTP1;refseq.name_1=NM_001002796;refseq.name_2=NM_024717;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I684I;refseq.proteinCoordStr_2=p.I905I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=94076243;refseq.start_2=94076243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr5 94270710 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.989+2;refseq.codingCoordStr_2=c.1652+2;refseq.end_1=94270710;refseq.end_2=94270710;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MCTP1;refseq.name2_2=MCTP1;refseq.name_1=NM_001002796;refseq.name_2=NM_024717;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=94270710;refseq.start_2=94270710;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr5 94775479 . G A 214.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.87;MQ0=0;OQ=8234.93;QD=22.02;RankSumP=0.488069;SB=-3547.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.366G>A;refseq.codonCoord=122;refseq.end=94775479;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_152548;refseq.name2=FAM81B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A122A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=73;refseq.start=94775479;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr5 94798296 . C T 155.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=9.63;MQ=98.82;MQ0=0;OQ=11501.15;QD=42.60;RankSumP=1.00000;SB=-5392.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.823C>T;refseq.codonCoord=275;refseq.end=94798296;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_152548;refseq.name2=FAM81B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P275S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=37;refseq.start=94798296;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr5 94831285 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4451T>G;refseq.codonCoord=1484;refseq.end=94831285;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4721;refseq.name=NM_014639;refseq.name2=TTC37;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1484G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-46;refseq.start=94831285;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr5 94929456 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=2.25905e-07;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.363C>A;refseq.codonCoord=121;refseq.end=94929456;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_198150;refseq.name2=ARSK;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y121*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-54;refseq.start=94929456;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr5 94944653 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.694G>T;refseq.codonCoord=232;refseq.end=94944653;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_198150;refseq.name2=ARSK;refseq.positionType=CDS;refseq.proteinCoordStr=p.E232*;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=94944653;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr5 95020095 . A G 252.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=98.72;MQ0=0;OQ=2058.78;QD=15.14;RankSumP=0.288144;SB=-928.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.753T>C;refseq.codonCoord=251;refseq.end=95020095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=909;refseq.name=NM_031952;refseq.name2=SPATA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N251N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=279;refseq.start=95020095;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 95109887 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=15.80;MQ=98.95;MQ0=0;OQ=6499.80;QD=19.40;RankSumP=0.224889;SB=-2622.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.510G>A;refseq.codonCoord=170;refseq.end=95109887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_014899;refseq.name2=RHOBTB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A170A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-61;refseq.start=95109887;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr5 95116950 . C T 148.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=1258.19;QD=12.84;RankSumP=0.448119;SB=-596.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.777C>T;refseq.codonCoord=259;refseq.end=95116950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_014899;refseq.name2=RHOBTB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y259Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=95;refseq.start=95116950;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr5 95116957 . A G 137.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=99.00;MQ0=0;OQ=1325.41;QD=12.74;RankSumP=0.471542;SB=-616.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.784A>G;refseq.codonCoord=262;refseq.end=95116957;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_014899;refseq.name2=RHOBTB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N262D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=102;refseq.start=95116957;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr5 95178069 . A G 353.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=95.74;MQ0=2;OQ=5231.43;QD=19.23;RankSumP=0.416839;SB=-1382.53;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.225T>C;refseq.codingCoordStr_2=c.225T>C;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=95178069;refseq.end_2=95178069;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=436;refseq.mrnaCoord_2=436;refseq.name2_1=GLRX;refseq.name2_2=GLRX;refseq.name_1=NM_001118890;refseq.name_2=NM_002064;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I75I;refseq.proteinCoordStr_2=p.I75I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=95178069;refseq.start_2=95178069;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr5 95262209 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.898A>C;refseq.codonCoord=300;refseq.end=95262209;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_012081;refseq.name2=ELL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T300P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=32;refseq.start=95262209;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 95754654 . C G 344.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=98.69;MQ0=0;OQ=6167.18;QD=21.27;RankSumP=0.0574404;SB=-2188.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2069G>C;refseq.codonCoord=690;refseq.end=95754654;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2275;refseq.name=NM_000439;refseq.name2=PCSK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S690T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=185;refseq.start=95754654;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr5 95754730 . G C 162.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=99.00;MQ0=0;OQ=1850.38;QD=14.23;RankSumP=0.243769;SB=-304.49;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1993C>G;refseq.codonCoord=665;refseq.end=95754730;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2199;refseq.name=NM_000439;refseq.name2=PCSK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q665E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=109;refseq.start=95754730;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr5 95758868 . A G 255.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=11.89;MQ=98.94;MQ0=0;OQ=4520.62;QD=21.12;RankSumP=0.258971;SB=-1177.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1650T>C;refseq.codonCoord=550;refseq.end=95758868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_000439;refseq.name2=PCSK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N550N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=62;refseq.start=95758868;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 96057325 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.85;MQ0=0;OQ=782.29;QD=10.16;RankSumP=0.351583;SB=-103.50;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.168A>G;refseq.codingCoordStr_2=c.168A>G;refseq.codingCoordStr_3=c.168A>G;refseq.codingCoordStr_4=c.168A>G;refseq.codingCoordStr_5=c.168A>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.codonCoord_4=56;refseq.codonCoord_5=56;refseq.end_1=96057325;refseq.end_2=96057325;refseq.end_3=96057325;refseq.end_4=96057325;refseq.end_5=96057325;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=354;refseq.mrnaCoord_2=354;refseq.mrnaCoord_3=354;refseq.mrnaCoord_4=354;refseq.mrnaCoord_5=354;refseq.name2_1=CAST;refseq.name2_2=CAST;refseq.name2_3=CAST;refseq.name2_4=CAST;refseq.name2_5=CAST;refseq.name_1=NM_001042440;refseq.name_2=NM_001042441;refseq.name_3=NM_001042442;refseq.name_4=NM_001750;refseq.name_5=NM_173063;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q56Q;refseq.proteinCoordStr_2=p.Q56Q;refseq.proteinCoordStr_3=p.Q56Q;refseq.proteinCoordStr_4=p.Q56Q;refseq.proteinCoordStr_5=p.Q56Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.spliceDist_5=30;refseq.start_1=96057325;refseq.start_2=96057325;refseq.start_3=96057325;refseq.start_4=96057325;refseq.start_5=96057325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;set=Intersection GT 0/1 chr5 96105143 . C T 205.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.78;MQ0=0;OQ=2298.19;QD=13.93;RankSumP=0.197977;SB=-794.64;SecondBestBaseQ=32;refseq.changesAA_11=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_11=c.57C>T;refseq.codonCoord_11=19;refseq.end_1=96107791;refseq.end_10=96107791;refseq.end_11=96105143;refseq.end_2=96107791;refseq.end_3=96107791;refseq.end_4=96107791;refseq.end_5=96107791;refseq.end_6=96107791;refseq.end_7=96107791;refseq.end_8=96107791;refseq.end_9=96107791;refseq.frame_11=2;refseq.functionalClass_11=silent;refseq.haplotypeAlternate_11=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_11=144;refseq.name2_1=CAST;refseq.name2_10=CAST;refseq.name2_11=CAST;refseq.name2_2=CAST;refseq.name2_3=CAST;refseq.name2_4=CAST;refseq.name2_5=CAST;refseq.name2_6=CAST;refseq.name2_7=CAST;refseq.name2_8=CAST;refseq.name2_9=CAST;refseq.name_1=NM_001042440;refseq.name_10=NM_173063;refseq.name_11=NM_173061;refseq.name_2=NM_001042441;refseq.name_3=NM_001042442;refseq.name_4=NM_001042443;refseq.name_5=NM_001042444;refseq.name_6=NM_001042445;refseq.name_7=NM_001042446;refseq.name_8=NM_001750;refseq.name_9=NM_173060;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_11=p.H19H;refseq.referenceAA_11=His;refseq.referenceCodon_11=CAC;refseq.spliceDist_11=-64;refseq.start_1=96104227;refseq.start_10=96104227;refseq.start_11=96105143;refseq.start_2=96104227;refseq.start_3=96104227;refseq.start_4=96104227;refseq.start_5=96104227;refseq.start_6=96104227;refseq.start_7=96104227;refseq.start_8=96104227;refseq.start_9=96104227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_11=His;refseq.variantCodon_11=CAT;set=Intersection GT 0/1 chr5 96105158 . C T 404.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.79;MQ0=0;OQ=7580.50;QD=38.87;RankSumP=1.00000;SB=-2811.80;SecondBestBaseQ=2;refseq.changesAA_11=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_11=c.72C>T;refseq.codonCoord_11=24;refseq.end_1=96107791;refseq.end_10=96107791;refseq.end_11=96105158;refseq.end_2=96107791;refseq.end_3=96107791;refseq.end_4=96107791;refseq.end_5=96107791;refseq.end_6=96107791;refseq.end_7=96107791;refseq.end_8=96107791;refseq.end_9=96107791;refseq.frame_11=2;refseq.functionalClass_11=silent;refseq.haplotypeAlternate_11=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_11=159;refseq.name2_1=CAST;refseq.name2_10=CAST;refseq.name2_11=CAST;refseq.name2_2=CAST;refseq.name2_3=CAST;refseq.name2_4=CAST;refseq.name2_5=CAST;refseq.name2_6=CAST;refseq.name2_7=CAST;refseq.name2_8=CAST;refseq.name2_9=CAST;refseq.name_1=NM_001042440;refseq.name_10=NM_173063;refseq.name_11=NM_173061;refseq.name_2=NM_001042441;refseq.name_3=NM_001042442;refseq.name_4=NM_001042443;refseq.name_5=NM_001042444;refseq.name_6=NM_001042445;refseq.name_7=NM_001042446;refseq.name_8=NM_001750;refseq.name_9=NM_173060;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_11=p.D24D;refseq.referenceAA_11=Asp;refseq.referenceCodon_11=GAC;refseq.spliceDist_11=-49;refseq.start_1=96104227;refseq.start_10=96104227;refseq.start_11=96105158;refseq.start_2=96104227;refseq.start_3=96104227;refseq.start_4=96104227;refseq.start_5=96104227;refseq.start_6=96104227;refseq.start_7=96104227;refseq.start_8=96104227;refseq.start_9=96104227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_11=Asp;refseq.variantCodon_11=GAT;set=Intersection GT 1/1 chr5 96115563 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0339491;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_1=c.1445G>A;refseq.codingCoordStr_10=c.488G>A;refseq.codingCoordStr_11=c.1463G>A;refseq.codingCoordStr_2=c.1511G>A;refseq.codingCoordStr_3=c.1502G>A;refseq.codingCoordStr_4=c.1319G>A;refseq.codingCoordStr_5=c.1196G>A;refseq.codingCoordStr_6=c.1214G>A;refseq.codingCoordStr_7=c.1157G>A;refseq.codingCoordStr_8=c.1568G>A;refseq.codingCoordStr_9=c.1253G>A;refseq.codonCoord_1=482;refseq.codonCoord_10=163;refseq.codonCoord_11=488;refseq.codonCoord_2=504;refseq.codonCoord_3=501;refseq.codonCoord_4=440;refseq.codonCoord_5=399;refseq.codonCoord_6=405;refseq.codonCoord_7=386;refseq.codonCoord_8=523;refseq.codonCoord_9=418;refseq.end_1=96115563;refseq.end_10=96115563;refseq.end_11=96115563;refseq.end_2=96115563;refseq.end_3=96115563;refseq.end_4=96115563;refseq.end_5=96115563;refseq.end_6=96115563;refseq.end_7=96115563;refseq.end_8=96115563;refseq.end_9=96115563;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1631;refseq.mrnaCoord_10=575;refseq.mrnaCoord_11=1649;refseq.mrnaCoord_2=1697;refseq.mrnaCoord_3=1688;refseq.mrnaCoord_4=1482;refseq.mrnaCoord_5=1359;refseq.mrnaCoord_6=1377;refseq.mrnaCoord_7=1320;refseq.mrnaCoord_8=1754;refseq.mrnaCoord_9=1416;refseq.name2_1=CAST;refseq.name2_10=CAST;refseq.name2_11=CAST;refseq.name2_2=CAST;refseq.name2_3=CAST;refseq.name2_4=CAST;refseq.name2_5=CAST;refseq.name2_6=CAST;refseq.name2_7=CAST;refseq.name2_8=CAST;refseq.name2_9=CAST;refseq.name_1=NM_001042440;refseq.name_10=NM_173061;refseq.name_11=NM_173063;refseq.name_2=NM_001042441;refseq.name_3=NM_001042442;refseq.name_4=NM_001042443;refseq.name_5=NM_001042444;refseq.name_6=NM_001042445;refseq.name_7=NM_001042446;refseq.name_8=NM_001750;refseq.name_9=NM_173060;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.S482N;refseq.proteinCoordStr_10=p.S163N;refseq.proteinCoordStr_11=p.S488N;refseq.proteinCoordStr_2=p.S504N;refseq.proteinCoordStr_3=p.S501N;refseq.proteinCoordStr_4=p.S440N;refseq.proteinCoordStr_5=p.S399N;refseq.proteinCoordStr_6=p.S405N;refseq.proteinCoordStr_7=p.S386N;refseq.proteinCoordStr_8=p.S523N;refseq.proteinCoordStr_9=p.S418N;refseq.referenceAA_1=Ser;refseq.referenceAA_10=Ser;refseq.referenceAA_11=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceAA_9=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_10=AGC;refseq.referenceCodon_11=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.referenceCodon_7=AGC;refseq.referenceCodon_8=AGC;refseq.referenceCodon_9=AGC;refseq.spliceDist_1=44;refseq.spliceDist_10=44;refseq.spliceDist_11=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.spliceDist_5=44;refseq.spliceDist_6=44;refseq.spliceDist_7=44;refseq.spliceDist_8=44;refseq.spliceDist_9=44;refseq.start_1=96115563;refseq.start_10=96115563;refseq.start_11=96115563;refseq.start_2=96115563;refseq.start_3=96115563;refseq.start_4=96115563;refseq.start_5=96115563;refseq.start_6=96115563;refseq.start_7=96115563;refseq.start_8=96115563;refseq.start_9=96115563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Asn;refseq.variantAA_10=Asn;refseq.variantAA_11=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantAA_9=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_10=AAC;refseq.variantCodon_11=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;refseq.variantCodon_7=AAC;refseq.variantCodon_8=AAC;refseq.variantCodon_9=AAC;set=FilteredInAll GT 1/0 chr5 96142564 . G A 164.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=6.73;MQ=98.53;MQ0=0;OQ=2698.73;QD=13.56;RankSumP=0.291647;SB=-1110.72;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2542C>T;refseq.codingCoordStr_2=c.2542C>T;refseq.codonCoord_1=848;refseq.codonCoord_2=848;refseq.end_1=96142564;refseq.end_2=96142564;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2889;refseq.mrnaCoord_2=2889;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L848L;refseq.proteinCoordStr_2=p.L848L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=96142564;refseq.start_2=96142564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr5 96144608 . G C 126.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=99.00;MQ0=0;OQ=3775.11;QD=23.45;RankSumP=0.311293;SB=-583.97;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2188C>G;refseq.codingCoordStr_2=c.2188C>G;refseq.codonCoord_1=730;refseq.codonCoord_2=730;refseq.end_1=96144608;refseq.end_2=96144608;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2535;refseq.mrnaCoord_2=2535;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q730E;refseq.proteinCoordStr_2=p.Q730E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=96144608;refseq.start_2=96144608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr5 96147280 . C T 261.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=5.32;MQ=98.36;MQ0=0;OQ=4454.48;QD=18.48;RankSumP=0.304485;SB=-1289.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1911G>A;refseq.codingCoordStr_2=c.1911G>A;refseq.codonCoord_1=637;refseq.codonCoord_2=637;refseq.end_1=96147280;refseq.end_2=96147280;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2258;refseq.mrnaCoord_2=2258;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A637A;refseq.proteinCoordStr_2=p.A637A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=96147280;refseq.start_2=96147280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr5 96150086 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=3;HaplotypeScore=10.22;MQ=98.99;MQ0=0;OQ=4662.05;QD=17.66;RankSumP=0.302867;SB=-951.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1583A>G;refseq.codingCoordStr_2=c.1583A>G;refseq.codonCoord_1=528;refseq.codonCoord_2=528;refseq.end_1=96150086;refseq.end_2=96150086;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1930;refseq.mrnaCoord_2=1930;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K528R;refseq.proteinCoordStr_2=p.K528R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=96150086;refseq.start_2=96150086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr5 96152064 . A G 274.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.98;MQ0=0;OQ=5066.20;QD=17.84;RankSumP=0.182402;SB=-1244.37;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1359T>C;refseq.codingCoordStr_2=c.1359T>C;refseq.codonCoord_1=453;refseq.codonCoord_2=453;refseq.end_1=96152064;refseq.end_2=96152064;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1706;refseq.mrnaCoord_2=1706;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S453S;refseq.proteinCoordStr_2=p.S453S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=96152064;refseq.start_2=96152064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr5 96153589 . G A 301.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=98.67;MQ0=0;OQ=4251.68;QD=21.37;RankSumP=0.250380;SB=-1320.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1251C>T;refseq.codingCoordStr_2=c.1251C>T;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.end_1=96153589;refseq.end_2=96153589;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1598;refseq.mrnaCoord_2=1598;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H417H;refseq.proteinCoordStr_2=p.H417H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=96153589;refseq.start_2=96153589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr5 96155268 . A G 250.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=2367.39;QD=40.13;RankSumP=1.00000;SB=-376.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1068T>C;refseq.codingCoordStr_2=c.1068T>C;refseq.codonCoord_1=356;refseq.codonCoord_2=356;refseq.end_1=96155268;refseq.end_2=96155268;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1415;refseq.mrnaCoord_2=1415;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A356A;refseq.proteinCoordStr_2=p.A356A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=96155268;refseq.start_2=96155268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr5 96156592 . T C 278.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=11.99;MQ=98.86;MQ0=0;OQ=2835.26;QD=16.88;RankSumP=0.146807;SB=-1101.28;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.828A>G;refseq.codingCoordStr_2=c.828A>G;refseq.codonCoord_1=276;refseq.codonCoord_2=276;refseq.end_1=96156592;refseq.end_2=96156592;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1175;refseq.mrnaCoord_2=1175;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I276M;refseq.proteinCoordStr_2=p.I276M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=96156592;refseq.start_2=96156592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr5 96165006 . C G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=5;HaplotypeScore=2.42;MQ=98.81;MQ0=0;OQ=7516.58;QD=42.95;RankSumP=1.00000;SB=-3050.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.380G>C;refseq.codingCoordStr_2=c.380G>C;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=96165006;refseq.end_2=96165006;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=727;refseq.mrnaCoord_2=727;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R127P;refseq.proteinCoordStr_2=p.R127P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-145;refseq.spliceDist_2=-145;refseq.start_1=96165006;refseq.start_2=96165006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr5 96165133 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.253A>C;refseq.codingCoordStr_2=c.253A>C;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=96165133;refseq.end_2=96165133;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=600;refseq.mrnaCoord_2=600;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T85P;refseq.proteinCoordStr_2=p.T85P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=270;refseq.spliceDist_2=270;refseq.start_1=96165133;refseq.start_2=96165133;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr5 96165351 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=322;Dels=0.00;HRun=0;HaplotypeScore=8.18;MQ=98.76;MQ0=0;OQ=6994.24;QD=21.72;RankSumP=0.283610;SB=-2824.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.35C>T;refseq.codingCoordStr_2=c.35C>T;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=96165351;refseq.end_2=96165351;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=382;refseq.mrnaCoord_2=382;refseq.name2_1=ERAP1;refseq.name2_2=ERAP1;refseq.name_1=NM_001040458;refseq.name_2=NM_016442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T12I;refseq.proteinCoordStr_2=p.T12I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=96165351;refseq.start_2=96165351;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr5 96241434 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0124995;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.289A>T;refseq.codingCoordStr_2=c.289A>T;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=96241434;refseq.end_2=96241434;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=562;refseq.mrnaCoord_2=999;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I97F;refseq.proteinCoordStr_2=p.I97F;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-287;refseq.spliceDist_2=-287;refseq.start_1=96241434;refseq.start_2=96241434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr5 96256756 . G T 202.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=13.58;MQ=98.50;MQ0=0;OQ=17773.09;QD=39.41;RankSumP=1.00000;SB=-6858.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1176G>T;refseq.codingCoordStr_2=c.1176G>T;refseq.codonCoord_1=392;refseq.codonCoord_2=392;refseq.end_1=96256756;refseq.end_2=96256756;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1449;refseq.mrnaCoord_2=1886;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K392N;refseq.proteinCoordStr_2=p.K392N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=96256756;refseq.start_2=96256756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr5 96257898 . T A 307.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.09;MQ0=0;OQ=4817.13;QD=38.85;RankSumP=1.00000;SB=-1749.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1305T>A;refseq.codingCoordStr_2=c.1305T>A;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=96257898;refseq.end_2=96257898;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1578;refseq.mrnaCoord_2=2015;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P435P;refseq.proteinCoordStr_2=p.P435P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=96257898;refseq.start_2=96257898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr5 96263082 . G A 276.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=4828.65;QD=43.90;RankSumP=1.00000;SB=-2374.42;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1689G>A;refseq.codingCoordStr_2=c.1689G>A;refseq.codonCoord_1=563;refseq.codonCoord_2=563;refseq.end_1=96263082;refseq.end_2=96263082;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1962;refseq.mrnaCoord_2=2399;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q563Q;refseq.proteinCoordStr_2=p.Q563Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=96263082;refseq.start_2=96263082;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr5 96271099 . C T 182.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=400;Dels=0.00;HRun=1;HaplotypeScore=2.68;MQ=98.94;MQ0=0;OQ=16628.52;QD=41.57;RankSumP=1.00000;SB=-6417.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2229C>T;refseq.codingCoordStr_2=c.2229C>T;refseq.codonCoord_1=743;refseq.codonCoord_2=743;refseq.end_1=96271099;refseq.end_2=96271099;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2502;refseq.mrnaCoord_2=2939;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G743G;refseq.proteinCoordStr_2=p.G743G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=96271099;refseq.start_2=96271099;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr5 96271195 . C T 423.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.88;MQ0=0;OQ=8149.14;QD=43.12;RankSumP=1.00000;SB=-2410.99;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2325C>T;refseq.codingCoordStr_2=c.2325C>T;refseq.codonCoord_1=775;refseq.codonCoord_2=775;refseq.end_1=96271195;refseq.end_2=96271195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2598;refseq.mrnaCoord_2=3035;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S775S;refseq.proteinCoordStr_2=p.S775S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=96271195;refseq.start_2=96271195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr5 96274871 . C T 291.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=8240.38;QD=42.26;RankSumP=1.00000;SB=-3962.19;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2611C>T;refseq.codingCoordStr_2=c.2611C>T;refseq.codonCoord_1=871;refseq.codonCoord_2=871;refseq.end_1=96274871;refseq.end_2=96274871;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2884;refseq.mrnaCoord_2=3321;refseq.name2_1=ERAP2;refseq.name2_2=ERAP2;refseq.name_1=NM_001130140;refseq.name_2=NM_022350;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L871L;refseq.proteinCoordStr_2=p.L871L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=96274871;refseq.start_2=96274871;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr5 96341409 . C T 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=180;Dels=0.00;HRun=2;HaplotypeScore=13.43;MQ=98.55;MQ0=0;OQ=407.52;QD=2.26;RankSumP=0.00000;SB=197.68;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.831C>T;refseq.codingCoordStr_2=c.789C>T;refseq.codonCoord_1=277;refseq.codonCoord_2=263;refseq.end_1=96341409;refseq.end_2=96341409;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1345;refseq.mrnaCoord_2=1137;refseq.name2_1=LNPEP;refseq.name2_2=LNPEP;refseq.name_1=NM_005575;refseq.name_2=NM_175920;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F277F;refseq.proteinCoordStr_2=p.F263F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=96341409;refseq.start_2=96341409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr5 96389215 . A G 163.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=98.81;MQ0=0;OQ=3168.45;QD=13.20;RankSumP=0.379438;SB=-1385.02;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2887A>G;refseq.codingCoordStr_2=c.2845A>G;refseq.codonCoord_1=963;refseq.codonCoord_2=949;refseq.end_1=96389215;refseq.end_2=96389215;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3401;refseq.mrnaCoord_2=3193;refseq.name2_1=LNPEP;refseq.name2_2=LNPEP;refseq.name_1=NM_005575;refseq.name_2=NM_175920;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I963V;refseq.proteinCoordStr_2=p.I949V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=96389215;refseq.start_2=96389215;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr5 96524539 . G A 259.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=98.67;MQ0=0;OQ=2365.26;QD=18.77;RankSumP=0.261818;SB=-571.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1641C>T;refseq.codonCoord=547;refseq.end=96524539;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1751;refseq.name=NM_018343;refseq.name2=RIOK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A547A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=147;refseq.start=96524539;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 96529279 . C T 109.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=769;Dels=0.00;HRun=0;HaplotypeScore=12.34;MQ=98.57;MQ0=0;OQ=13708.47;QD=17.83;RankSumP=0.387773;SB=-4609.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1045G>A;refseq.codingCoordStr_2=c.1045G>A;refseq.codonCoord_1=349;refseq.codonCoord_2=349;refseq.end_1=96529279;refseq.end_2=96529279;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1155;refseq.mrnaCoord_2=1155;refseq.name2_1=RIOK2;refseq.name2_2=RIOK2;refseq.name_1=NM_001159749;refseq.name_2=NM_018343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G349R;refseq.proteinCoordStr_2=p.G349R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.start_1=96529279;refseq.start_2=96529279;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr5 96538621 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=1123.12;QD=17.02;RankSumP=0.0755809;SB=-513.52;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.453A>T;refseq.codingCoordStr_2=c.453A>T;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=96538621;refseq.end_2=96538621;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=563;refseq.mrnaCoord_2=563;refseq.name2_1=RIOK2;refseq.name2_2=RIOK2;refseq.name_1=NM_001159749;refseq.name_2=NM_018343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L151L;refseq.proteinCoordStr_2=p.L151L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=96538621;refseq.start_2=96538621;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr5 96538627 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=1363.18;QD=18.93;RankSumP=0.171536;SB=-637.64;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.447A>T;refseq.codingCoordStr_2=c.447A>T;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=96538627;refseq.end_2=96538627;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=557;refseq.mrnaCoord_2=557;refseq.name2_1=RIOK2;refseq.name2_2=RIOK2;refseq.name_1=NM_001159749;refseq.name_2=NM_018343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S149S;refseq.proteinCoordStr_2=p.S149S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=96538627;refseq.start_2=96538627;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr5 96539227 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=12.02;MQ=99.00;MQ0=0;OQ=10713.89;QD=26.99;RankSumP=0.453018;SB=-4730.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.287C>G;refseq.codingCoordStr_2=c.287C>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=96539227;refseq.end_2=96539227;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=397;refseq.name2_1=RIOK2;refseq.name2_2=RIOK2;refseq.name_1=NM_001159749;refseq.name_2=NM_018343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S96C;refseq.proteinCoordStr_2=p.S96C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=96539227;refseq.start_2=96539227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr5 99925765 . G A 186.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=498;Dels=0.00;HRun=0;HaplotypeScore=13.82;MQ=98.88;MQ0=0;OQ=10194.70;QD=20.47;RankSumP=0.383713;SB=-4311.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.543G>A;refseq.codonCoord=181;refseq.end=99925765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=654;refseq.name=NM_198507;refseq.name2=FAM174A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T181T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-27;refseq.start=99925765;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr5 101602990 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=5.88;MQ=99.00;MQ0=0;OQ=867.77;QD=11.27;RankSumP=0.400113;SB=-318.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1878G>A;refseq.codonCoord=626;refseq.end=101602990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2165;refseq.name=NM_180991;refseq.name2=SLCO4C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G626G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=101602990;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr5 101659595 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.271A>G;refseq.codonCoord=91;refseq.end=101659595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=558;refseq.name=NM_180991;refseq.name2=SLCO4C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R91G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-85;refseq.start=101659595;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 101659689 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=98.91;MQ0=0;OQ=935.99;QD=8.83;RankSumP=0.402683;SB=-438.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.177A>C;refseq.codonCoord=59;refseq.end=101659689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_180991;refseq.name2=SLCO4C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P59P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-179;refseq.start=101659689;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr5 101752347 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.79;MQ0=0;OQ=2439.49;QD=27.11;RankSumP=0.109252;SB=-1080.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1961C>G;refseq.codonCoord=654;refseq.end=101752347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2133;refseq.name=NM_173488;refseq.name2=SLCO6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T654R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-57;refseq.start=101752347;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr5 101752371 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=98.90;MQ0=0;OQ=1028.05;QD=11.30;RankSumP=0.180502;SB=-470.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1937G>A;refseq.codonCoord=646;refseq.end=101752371;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_173488;refseq.name2=SLCO6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R646Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=58;refseq.start=101752371;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr5 102366638 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=893.75;QD=18.24;RankSumP=0.0582294;SB=-267.08;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_2=c.1616C>G;refseq.codingCoordStr_3=c.1616C>G;refseq.codingCoordStr_4=c.1616C>G;refseq.codingCoordStr_5=c.1295C>G;refseq.codingCoordStr_6=c.1616C>G;refseq.codonCoord_2=539;refseq.codonCoord_3=539;refseq.codonCoord_4=539;refseq.codonCoord_5=432;refseq.codonCoord_6=539;refseq.end_1=102366638;refseq.end_2=102366638;refseq.end_3=102366638;refseq.end_4=102366638;refseq.end_5=102366638;refseq.end_6=102366638;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1931;refseq.mrnaCoord_2=1989;refseq.mrnaCoord_3=1989;refseq.mrnaCoord_4=1989;refseq.mrnaCoord_5=1668;refseq.mrnaCoord_6=1989;refseq.name2_1=PAM;refseq.name2_2=PAM;refseq.name2_3=PAM;refseq.name2_4=PAM;refseq.name2_5=PAM;refseq.name2_6=PAM;refseq.name_1=NR_033440;refseq.name_2=NM_000919;refseq.name_3=NM_001177306;refseq.name_4=NM_138766;refseq.name_5=NM_138821;refseq.name_6=NM_138822;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.S539W;refseq.proteinCoordStr_3=p.S539W;refseq.proteinCoordStr_4=p.S539W;refseq.proteinCoordStr_5=p.S432W;refseq.proteinCoordStr_6=p.S539W;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceDist_5=3;refseq.spliceDist_6=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.spliceInfo_5=splice-acceptor_3;refseq.spliceInfo_6=splice-acceptor_3;refseq.start_1=102366638;refseq.start_2=102366638;refseq.start_3=102366638;refseq.start_4=102366638;refseq.start_5=102366638;refseq.start_6=102366638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantAA_5=Trp;refseq.variantAA_6=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;refseq.variantCodon_5=TGG;refseq.variantCodon_6=TGG;set=Intersection GT 1/0 chr5 102373445 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=98.42;MQ0=0;OQ=2350.51;QD=12.77;RankSumP=0.0158244;SB=-966.34;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_2=c.2307A>C;refseq.codingCoordStr_3=c.2307A>C;refseq.codingCoordStr_4=c.2307A>C;refseq.codingCoordStr_5=c.1986A>C;refseq.codingCoordStr_6=c.2307A>C;refseq.codonCoord_2=769;refseq.codonCoord_3=769;refseq.codonCoord_4=769;refseq.codonCoord_5=662;refseq.codonCoord_6=769;refseq.end_1=102373445;refseq.end_2=102373445;refseq.end_3=102373445;refseq.end_4=102373445;refseq.end_5=102373445;refseq.end_6=102373445;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2622;refseq.mrnaCoord_2=2680;refseq.mrnaCoord_3=2680;refseq.mrnaCoord_4=2680;refseq.mrnaCoord_5=2359;refseq.mrnaCoord_6=2680;refseq.name2_1=PAM;refseq.name2_2=PAM;refseq.name2_3=PAM;refseq.name2_4=PAM;refseq.name2_5=PAM;refseq.name2_6=PAM;refseq.name_1=NR_033440;refseq.name_2=NM_000919;refseq.name_3=NM_001177306;refseq.name_4=NM_138766;refseq.name_5=NM_138821;refseq.name_6=NM_138822;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.I769I;refseq.proteinCoordStr_3=p.I769I;refseq.proteinCoordStr_4=p.I769I;refseq.proteinCoordStr_5=p.I662I;refseq.proteinCoordStr_6=p.I769I;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.referenceCodon_6=ATA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.spliceDist_4=-25;refseq.spliceDist_5=-25;refseq.spliceDist_6=-25;refseq.start_1=102373445;refseq.start_2=102373445;refseq.start_3=102373445;refseq.start_4=102373445;refseq.start_5=102373445;refseq.start_6=102373445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;refseq.variantCodon_6=ATC;set=Intersection GT 0/1 chr5 102461308 . G A 263.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=98.73;MQ0=0;OQ=7112.42;QD=22.72;RankSumP=0.424179;SB=-2774.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.716C>T;refseq.codonCoord=239;refseq.end=102461308;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_017676;refseq.name2=GIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T239M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=77;refseq.start=102461308;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr5 102548299 . A C 325.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=7.33;MQ=98.92;MQ0=0;OQ=4576.84;QD=18.38;RankSumP=0.0886335;SB=-1030.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3124A>C;refseq.codonCoord=1042;refseq.end=102548299;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3161;refseq.name=NM_015216;refseq.name2=PPIP5K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1042R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=28;refseq.start=102548299;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr5 102922572 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=29.71;MQ=98.56;MQ0=0;OQ=8901.12;QD=40.64;RankSumP=1.00000;SB=-3723.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.703A>G;refseq.codonCoord=235;refseq.end=102922572;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_031438;refseq.name2=NUDT12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I235V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-94;refseq.start=102922572;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr5 108700845 . C T 301.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=452;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=98.92;MQ0=0;OQ=9292.90;QD=20.56;RankSumP=0.247676;SB=-3363.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2113G>A;refseq.codonCoord=705;refseq.end=108700845;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2333;refseq.name=NM_014819;refseq.name2=PJA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A705T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=112;refseq.start=108700845;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr5 108726538 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1554A>C;refseq.codonCoord=518;refseq.end=108726538;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1774;refseq.name=NM_014819;refseq.name2=PJA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E518D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=85;refseq.start=108726538;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr5 108741869 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=1;HaplotypeScore=7.91;MQ=98.95;MQ0=0;OQ=8305.96;QD=24.94;RankSumP=0.418483;SB=-3647.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1218G>A;refseq.codonCoord=406;refseq.end=108741869;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1438;refseq.name=NM_014819;refseq.name2=PJA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E406E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-66;refseq.start=108741869;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr5 108741881 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=2;HaplotypeScore=5.25;MQ=98.93;MQ0=0;OQ=6850.93;QD=21.54;RankSumP=0.359510;SB=-2876.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1206A>G;refseq.codonCoord=402;refseq.end=108741881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1426;refseq.name=NM_014819;refseq.name2=PJA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A402A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-78;refseq.start=108741881;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr5 108742197 . T C 229.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.93;MQ0=0;OQ=8728.89;QD=19.53;RankSumP=0.116951;SB=-3061.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.890A>G;refseq.codonCoord=297;refseq.end=108742197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_014819;refseq.name2=PJA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q297R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-394;refseq.start=108742197;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr5 109138436 . T A 122.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=98.98;MQ0=0;OQ=4162.40;QD=22.38;RankSumP=0.206933;SB=-1740.96;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.1245T>A;refseq.codonCoord_2=415;refseq.end_1=109211856;refseq.end_2=109138436;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2208;refseq.name2_1=MIR548C;refseq.name2_2=MAN2A1;refseq.name_1=NR_030347;refseq.name_2=NM_002372;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R415R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=49;refseq.start_1=109050272;refseq.start_2=109138436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=Intersection GT 1/0 chr5 109209581 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=855;Dels=0.00;HRun=2;HaplotypeScore=5.51;MQ=98.84;MQ0=0;OQ=15559.56;QD=18.20;RankSumP=0.00896827;SB=-5372.08;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.2817A>T;refseq.codonCoord_2=939;refseq.end_1=109211856;refseq.end_2=109209581;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3780;refseq.name2_1=MIR548C;refseq.name2_2=MAN2A1;refseq.name_1=NR_030347;refseq.name_2=NM_002372;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S939S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_2=-26;refseq.start_1=109050272;refseq.start_2=109209581;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=filterInsoap-gatk GT 0/1 chr5 110124838 . G A 139.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=455;Dels=0.00;HRun=1;HaplotypeScore=10.91;MQ=98.78;MQ0=0;OQ=8740.46;QD=19.21;RankSumP=0.341394;SB=-2499.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.714G>A;refseq.codonCoord=238;refseq.end=110124838;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_138773;refseq.name2=SLC25A46;refseq.positionType=CDS;refseq.proteinCoordStr=p.E238E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=110124838;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr5 110484162 . C G 138.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=545;Dels=0.00;HRun=0;HaplotypeScore=13.40;MQ=98.70;MQ0=0;OQ=11845.35;QD=21.73;RankSumP=0.211056;SB=-4649.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2142C>G;refseq.codonCoord=714;refseq.end=110484162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2259;refseq.name=NM_139281;refseq.name2=WDR36;refseq.positionType=CDS;refseq.proteinCoordStr=p.V714V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-29;refseq.start=110484162;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr5 110847652 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=98.80;MQ0=0;OQ=1188.53;QD=16.28;RankSumP=0.361293;SB=-100.82;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1011G>C;refseq.codonCoord=337;refseq.end=110847652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_001744;refseq.name2=CAMK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S337S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=30;refseq.start=110847652;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr5 111547720 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1514A>G;refseq.codonCoord=505;refseq.end=111547720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1788;refseq.name=NM_022140;refseq.name2=EPB41L4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E505G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=12;refseq.start=111547720;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 111638975 . A G 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.92;MQ0=0;OQ=81.03;QD=5.06;RankSumP=0.156593;SB=-27.91;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.282T>C;refseq.codonCoord=94;refseq.end=111638975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=556;refseq.name=NM_022140;refseq.name2=EPB41L4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F94F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=26;refseq.start=111638975;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap-filterIngatk GT 0/1 chr5 112182902 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1274A>G;refseq.codingCoordStr_2=c.1274A>G;refseq.codingCoordStr_3=c.1274A>G;refseq.codonCoord_1=425;refseq.codonCoord_2=425;refseq.codonCoord_3=425;refseq.end_1=112182902;refseq.end_2=112182902;refseq.end_3=112182902;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1359;refseq.mrnaCoord_2=1467;refseq.mrnaCoord_3=1654;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E425G;refseq.proteinCoordStr_2=p.E425G;refseq.proteinCoordStr_3=p.E425G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=112182902;refseq.start_2=112182902;refseq.start_3=112182902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chr5 112190753 . T C 361.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=98.81;MQ0=0;OQ=4597.24;QD=18.54;RankSumP=0.445921;SB=-1732.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1458T>C;refseq.codingCoordStr_2=c.1458T>C;refseq.codingCoordStr_3=c.1458T>C;refseq.codonCoord_1=486;refseq.codonCoord_2=486;refseq.codonCoord_3=486;refseq.end_1=112190753;refseq.end_2=112190753;refseq.end_3=112190753;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1543;refseq.mrnaCoord_2=1651;refseq.mrnaCoord_3=1838;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y486Y;refseq.proteinCoordStr_2=p.Y486Y;refseq.proteinCoordStr_3=p.Y486Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=112190753;refseq.start_2=112190753;refseq.start_3=112190753;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/0 chr5 112192460 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1824.25;QD=19.20;RankSumP=0.491032;SB=-413.90;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1635G>A;refseq.codingCoordStr_2=c.1635G>A;refseq.codingCoordStr_3=c.1635G>A;refseq.codonCoord_1=545;refseq.codonCoord_2=545;refseq.codonCoord_3=545;refseq.end_1=112192460;refseq.end_2=112192460;refseq.end_3=112192460;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1720;refseq.mrnaCoord_2=1828;refseq.mrnaCoord_3=2015;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A545A;refseq.proteinCoordStr_2=p.A545A;refseq.proteinCoordStr_3=p.A545A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=112192460;refseq.start_2=112192460;refseq.start_3=112192460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr5 112203669 . G A 363.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=98.89;MQ0=0;OQ=5297.62;QD=19.84;RankSumP=0.339220;SB=-2091.86;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.4479G>A;refseq.codingCoordStr_2=c.4479G>A;refseq.codingCoordStr_3=c.4479G>A;refseq.codonCoord_1=1493;refseq.codonCoord_2=1493;refseq.codonCoord_3=1493;refseq.end_1=112203669;refseq.end_2=112203669;refseq.end_3=112203669;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4564;refseq.mrnaCoord_2=4672;refseq.mrnaCoord_3=4859;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1493T;refseq.proteinCoordStr_2=p.T1493T;refseq.proteinCoordStr_3=p.T1493T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=2521;refseq.spliceDist_2=2521;refseq.spliceDist_3=2521;refseq.start_1=112203669;refseq.start_2=112203669;refseq.start_3=112203669;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr5 112204224 . G A 316.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=98.96;MQ0=0;OQ=2705.55;QD=17.23;RankSumP=0.198576;SB=-1186.53;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.5034G>A;refseq.codingCoordStr_2=c.5034G>A;refseq.codingCoordStr_3=c.5034G>A;refseq.codonCoord_1=1678;refseq.codonCoord_2=1678;refseq.codonCoord_3=1678;refseq.end_1=112204224;refseq.end_2=112204224;refseq.end_3=112204224;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5119;refseq.mrnaCoord_2=5227;refseq.mrnaCoord_3=5414;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1678G;refseq.proteinCoordStr_2=p.G1678G;refseq.proteinCoordStr_3=p.G1678G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=3076;refseq.spliceDist_2=3076;refseq.spliceDist_3=3076;refseq.start_1=112204224;refseq.start_2=112204224;refseq.start_3=112204224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/0 chr5 112204458 . T G 304.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=11.26;MQ=98.90;MQ0=0;OQ=4738.20;QD=17.17;RankSumP=0.239621;SB=-1270.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.5268T>G;refseq.codingCoordStr_2=c.5268T>G;refseq.codingCoordStr_3=c.5268T>G;refseq.codonCoord_1=1756;refseq.codonCoord_2=1756;refseq.codonCoord_3=1756;refseq.end_1=112204458;refseq.end_2=112204458;refseq.end_3=112204458;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5353;refseq.mrnaCoord_2=5461;refseq.mrnaCoord_3=5648;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1756S;refseq.proteinCoordStr_2=p.S1756S;refseq.proteinCoordStr_3=p.S1756S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=3310;refseq.spliceDist_2=3310;refseq.spliceDist_3=3310;refseq.start_1=112204458;refseq.start_2=112204458;refseq.start_3=112204458;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr5 112204655 . T A 220.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.83;MQ0=0;OQ=2027.15;QD=17.03;RankSumP=0.474100;SB=-476.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.5465T>A;refseq.codingCoordStr_2=c.5465T>A;refseq.codingCoordStr_3=c.5465T>A;refseq.codonCoord_1=1822;refseq.codonCoord_2=1822;refseq.codonCoord_3=1822;refseq.end_1=112204655;refseq.end_2=112204655;refseq.end_3=112204655;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5550;refseq.mrnaCoord_2=5658;refseq.mrnaCoord_3=5845;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1822D;refseq.proteinCoordStr_2=p.V1822D;refseq.proteinCoordStr_3=p.V1822D;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=3507;refseq.spliceDist_2=3507;refseq.spliceDist_3=3507;refseq.start_1=112204655;refseq.start_2=112204655;refseq.start_3=112204655;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr5 112204935 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.5745G>C;refseq.codingCoordStr_2=c.5745G>C;refseq.codingCoordStr_3=c.5745G>C;refseq.codonCoord_1=1915;refseq.codonCoord_2=1915;refseq.codonCoord_3=1915;refseq.end_1=112204935;refseq.end_2=112204935;refseq.end_3=112204935;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5830;refseq.mrnaCoord_2=5938;refseq.mrnaCoord_3=6125;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K1915N;refseq.proteinCoordStr_2=p.K1915N;refseq.proteinCoordStr_3=p.K1915N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=3787;refseq.spliceDist_2=3787;refseq.spliceDist_3=3787;refseq.start_1=112204935;refseq.start_2=112204935;refseq.start_3=112204935;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 0/1 chr5 112205070 . G A 312.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.54;MQ0=0;OQ=3977.86;QD=20.30;RankSumP=0.127597;SB=-1147.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.5880G>A;refseq.codingCoordStr_2=c.5880G>A;refseq.codingCoordStr_3=c.5880G>A;refseq.codonCoord_1=1960;refseq.codonCoord_2=1960;refseq.codonCoord_3=1960;refseq.end_1=112205070;refseq.end_2=112205070;refseq.end_3=112205070;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5965;refseq.mrnaCoord_2=6073;refseq.mrnaCoord_3=6260;refseq.name2_1=APC;refseq.name2_2=APC;refseq.name2_3=APC;refseq.name_1=NM_000038;refseq.name_2=NM_001127510;refseq.name_3=NM_001127511;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1960P;refseq.proteinCoordStr_2=p.P1960P;refseq.proteinCoordStr_3=p.P1960P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=3922;refseq.spliceDist_2=3922;refseq.spliceDist_3=3922;refseq.start_1=112205070;refseq.start_2=112205070;refseq.start_3=112205070;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/0 chr5 112226105 . T G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500001;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.43T>G;refseq.codonCoord=15;refseq.end=112226105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=124;refseq.name=NM_003135;refseq.name2=SRP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.F15V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=112226105;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 1/0 chr5 112340575 . T C 442.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=97.90;MQ0=0;OQ=5159.12;QD=38.50;RankSumP=1.00000;SB=-2017.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.46T>C;refseq.codonCoord=16;refseq.end=112340575;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_152624;refseq.name2=DCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F16L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=112340575;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr5 112356276 . A G 106.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.69;MQ0=0;OQ=1781.91;QD=16.65;RankSumP=0.456729;SB=-439.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.342A>G;refseq.codonCoord=114;refseq.end=112356276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_152624;refseq.name2=DCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L114L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=112356276;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 112376969 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=576;Dels=0.00;HRun=1;HaplotypeScore=14.18;MQ=98.79;MQ0=0;OQ=9791.08;QD=17.00;RankSumP=0.143870;SB=-3353.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1152T>C;refseq.codonCoord=384;refseq.end=112376969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_152624;refseq.name2=DCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A384A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=53;refseq.start=112376969;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr5 112412701 . G A 83.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=97.56;MQ0=0;OQ=4963.24;QD=28.52;RankSumP=1.00000;SB=-790.00;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2643C>T;refseq.codingCoordStr_2=c.2073C>T;refseq.codonCoord_1=881;refseq.codonCoord_2=691;refseq.end_1=112412701;refseq.end_2=112412701;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3059;refseq.mrnaCoord_2=2603;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D881D;refseq.proteinCoordStr_2=p.D691D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=112412701;refseq.start_2=112412701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr5 112427592 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2201A>C;refseq.codingCoordStr_2=c.1631A>C;refseq.codonCoord_1=734;refseq.codonCoord_2=544;refseq.end_1=112427592;refseq.end_2=112427592;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2617;refseq.mrnaCoord_2=2161;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N734T;refseq.proteinCoordStr_2=p.N544T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=112427592;refseq.start_2=112427592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr5 112427690 . G A 139.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=20.79;MQ=98.53;MQ0=0;OQ=6336.73;QD=18.58;RankSumP=0.0111499;SB=-1622.05;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2103C>T;refseq.codingCoordStr_2=c.1533C>T;refseq.codonCoord_1=701;refseq.codonCoord_2=511;refseq.end_1=112427690;refseq.end_2=112427690;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2519;refseq.mrnaCoord_2=2063;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N701N;refseq.proteinCoordStr_2=p.N511N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=112427690;refseq.start_2=112427690;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr5 112434761 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=614;Dels=0.00;HRun=0;HaplotypeScore=17.85;MQ=98.24;MQ0=0;OQ=10465.22;QD=17.04;RankSumP=0.0538196;SB=-3960.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1854C>T;refseq.codingCoordStr_2=c.1284C>T;refseq.codonCoord_1=618;refseq.codonCoord_2=428;refseq.end_1=112434761;refseq.end_2=112434761;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2270;refseq.mrnaCoord_2=1814;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A618A;refseq.proteinCoordStr_2=p.A428A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=112434761;refseq.start_2=112434761;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr5 112467840 . T C 117.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=10.16;MQ=98.61;MQ0=0;OQ=4071.07;QD=32.06;RankSumP=1.00000;SB=-1987.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1139A>G;refseq.codingCoordStr_2=c.569A>G;refseq.codonCoord_1=380;refseq.codonCoord_2=190;refseq.end_1=112467840;refseq.end_2=112467840;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1555;refseq.mrnaCoord_2=1099;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K380R;refseq.proteinCoordStr_2=p.K190R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=112467840;refseq.start_2=112467840;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr5 112506903 . T C 189.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=8.81;MQ=98.80;MQ0=0;OQ=11514.37;QD=37.75;RankSumP=1.00000;SB=-3336.18;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.795A>G;refseq.codingCoordStr_2=c.225A>G;refseq.codonCoord_1=265;refseq.codonCoord_2=75;refseq.end_1=112506903;refseq.end_2=112506903;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=755;refseq.name2_1=MCC;refseq.name2_2=MCC;refseq.name_1=NM_001085377;refseq.name_2=NM_002387;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T265T;refseq.proteinCoordStr_2=p.T75T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=112506903;refseq.start_2=112506903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr5 112956912 . T A 453.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.87;MQ0=0;OQ=7635.29;QD=41.50;RankSumP=1.00000;SB=-1988.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.4226T>A;refseq.codonCoord=1409;refseq.end=112956912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4428;refseq.name=NM_022828;refseq.name2=YTHDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1409Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=14;refseq.start=112956912;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 113726443 . G C 178.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=59;Dels=0.02;HRun=1;HaplotypeScore=3.59;MQ=96.68;MQ0=0;OQ=2243.34;QD=38.02;RankSumP=1.00000;SB=-764.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.72G>C;refseq.codonCoord=24;refseq.end=113726443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_021614;refseq.name2=KCNN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L24L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-415;refseq.start=113726443;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr5 113857020 . A G 427.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.84;MQ0=0;OQ=8303.54;QD=42.58;RankSumP=1.00000;SB=-2882.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1404A>G;refseq.codingCoordStr_2=c.360A>G;refseq.codonCoord_1=468;refseq.codonCoord_2=120;refseq.end_1=113857020;refseq.end_2=113857020;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1861;refseq.mrnaCoord_2=803;refseq.name2_1=KCNN2;refseq.name2_2=KCNN2;refseq.name_1=NM_021614;refseq.name_2=NM_170775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E468E;refseq.proteinCoordStr_2=p.E120E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=113857020;refseq.start_2=113857020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr5 114490254 . C T 288.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6461.95;QD=43.66;RankSumP=1.00000;SB=-3223.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2032G>A;refseq.codonCoord=678;refseq.end=114490254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2541;refseq.name=NM_018700;refseq.name2=TRIM36;refseq.positionType=CDS;refseq.proteinCoordStr=p.D678N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=200;refseq.start=114490254;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr5 114510832 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.457A>C;refseq.codonCoord=153;refseq.end=114510832;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_018700;refseq.name2=TRIM36;refseq.positionType=CDS;refseq.proteinCoordStr=p.T153P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=159;refseq.start=114510832;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr5 115176775 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr5;refseq.codingCoordStr=c.248+2;refseq.end=115176775;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001801;refseq.name2=CDO1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=115176775;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr5 115266504 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=394;Dels=0.00;HRun=0;HaplotypeScore=7.38;MQ=94.18;MQ0=0;OQ=139.12;QD=0.35;SB=4.58;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.369G>A;refseq.codonCoord=123;refseq.end=115266504;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_001284;refseq.name2=AP3S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M123I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=24;refseq.start=115266504;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:323,71:338:-118.96,-101.76,-1346.59:99 chr5 115266534 . T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=466;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=93.05;MQ0=0;OQ=141.36;QD=0.30;SB=6.24;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.399T>C;refseq.codonCoord=133;refseq.end=115266534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_001284;refseq.name2=AP3S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N133N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=54;refseq.start=115266534;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:390,76:405:-139.38,-121.96,-1592.06:99 chr5 115276977 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=20.20;MQ=88.94;MQ0=7;OQ=822.61;QD=2.72;RankSumP=0.0458203;SB=-400.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=115276977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_001284;refseq.name2=AP3S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P158L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=20;refseq.start=115276977;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr5 115326277 . C T 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=3.01;MQ=95.28;MQ0=0;OQ=1692.50;QD=27.30;RankSumP=1.00000;SB=-761.02;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.64C>T;refseq.codonCoord=22;refseq.end=115326277;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L22L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=228;refseq.start=115326277;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr5 115326374 . T C 144.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=97.24;MQ0=0;OQ=1998.22;QD=23.79;RankSumP=1.00000;SB=-531.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.161T>C;refseq.codonCoord=54;refseq.end=115326374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L54S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=325;refseq.start=115326374;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 115326417 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=6.23;MQ=97.18;MQ0=0;OQ=2954.05;QD=28.13;RankSumP=1.00000;SB=-1352.24;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.204A>G;refseq.codonCoord=68;refseq.end=115326417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P68P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=368;refseq.start=115326417;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 115326876 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=11.55;MQ=98.43;MQ0=0;OQ=2528.18;QD=19.60;RankSumP=0.267290;SB=-970.52;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.663C>T;refseq.codonCoord=221;refseq.end=115326876;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F221F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-33;refseq.start=115326876;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr5 115364761 . T C 335.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=98.87;MQ0=0;OQ=7497.99;QD=18.56;RankSumP=0.101383;SB=-2870.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1746T>C;refseq.codonCoord=582;refseq.end=115364761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1910;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N582N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-75;refseq.start=115364761;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr5 115369510 . G T 310.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.85;MQ0=0;OQ=12459.49;QD=40.32;RankSumP=1.00000;SB=-4239.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2040G>T;refseq.codonCoord=680;refseq.end=115369510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2204;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A680A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=115369510;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr5 115369537 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=98.69;MQ0=0;OQ=17000.24;QD=49.71;RankSumP=1.00000;SB=-7360.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2067G>C;refseq.codonCoord=689;refseq.end=115369537;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2231;refseq.name=NM_173800;refseq.name2=AQPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L689F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-27;refseq.start=115369537;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr5 118338233 . T C 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.692308;SecondBestBaseQ=34;refseq.chr=chr5;refseq.end=118351877;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_173666;refseq.name2=DTWD2;refseq.positionType=intron;refseq.start=118308254;refseq.transcriptStrand=-;set=soap GT 1/0 chr5 118497356 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1838T>G;refseq.codonCoord=613;refseq.end=118497356;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_005509;refseq.name2=DMXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V613G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=269;refseq.start=118497356;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr5 118512703 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=708;Dels=0.00;HRun=1;HaplotypeScore=11.34;MQ=98.99;MQ0=0;OQ=13019.55;QD=18.39;RankSumP=0.0762763;SB=-5100.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3282G>A;refseq.codonCoord=1094;refseq.end=118512703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3463;refseq.name=NM_005509;refseq.name2=DMXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1094E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=371;refseq.start=118512703;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr5 118602604 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.8518A>C;refseq.codonCoord=2840;refseq.end=118602604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8699;refseq.name=NM_005509;refseq.name2=DMXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2840P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=22;refseq.start=118602604;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr5 118604043 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.8619A>C;refseq.codonCoord=2873;refseq.end=118604043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8800;refseq.name=NM_005509;refseq.name2=DMXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2873A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-23;refseq.start=118604043;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr5 118888837 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=8.99;MQ=97.97;MQ0=0;OQ=2239.18;QD=11.37;RankSumP=0.105879;SB=-1114.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1531T>C;refseq.codonCoord=511;refseq.end=118888837;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_000414;refseq.name2=HSD17B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.W511R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=28;refseq.start=118888837;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr5 118889612 . A G 329.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=0;HaplotypeScore=11.69;MQ=98.93;MQ0=0;OQ=7634.36;QD=19.58;RankSumP=0.374521;SB=-1630.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1675A>G;refseq.codonCoord=559;refseq.end=118889612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1798;refseq.name=NM_000414;refseq.name2=HSD17B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I559V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=118889612;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr5 118997859 . C T 291.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=11.86;MQ=98.83;MQ0=0;OQ=6359.83;QD=22.01;RankSumP=0.0944938;SB=-2010.59;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.376C>T;refseq.codingCoordStr_2=c.517C>T;refseq.codonCoord_1=126;refseq.codonCoord_2=173;refseq.end_1=118997859;refseq.end_2=118997859;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=727;refseq.name2_1=FAM170A;refseq.name2_2=FAM170A;refseq.name_1=NM_001163991;refseq.name_2=NM_182761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P126S;refseq.proteinCoordStr_2=p.P173S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=306;refseq.spliceDist_2=306;refseq.start_1=118997859;refseq.start_2=118997859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr5 120049716 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.15;MQ0=0;OQ=1092.55;QD=12.70;RankSumP=0.295153;SB=-389.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.259C>A;refseq.codonCoord=87;refseq.end=120049716;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_016644;refseq.name2=PRR16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P87T;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=169;refseq.start=120049716;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr5 120049718 . G A 114.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.14;MQ0=0;OQ=3538.17;QD=41.63;RankSumP=1.00000;SB=-1599.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.261G>A;refseq.codonCoord=87;refseq.end=120049718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_016644;refseq.name2=PRR16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P87P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=171;refseq.start=120049718;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr5 120049815 . A G 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=121;Dels=0.00;HRun=0;HaplotypeScore=20.40;MQ=98.88;MQ0=0;OQ=635.62;QD=5.25;RankSumP=0.0342291;SB=-215.31;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.358A>G;refseq.codonCoord=120;refseq.end=120049815;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_016644;refseq.name2=PRR16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T120A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=268;refseq.start=120049815;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr5 121441107 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=19.12;MQ=98.14;MQ0=0;OQ=4891.89;QD=19.97;RankSumP=0.0587705;SB=-810.37;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.473G>A;refseq.codonCoord=158;refseq.end=121441107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_002317;refseq.name2=LOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.R158Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-159;refseq.start=121441107;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr5 121515868 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=236;Dels=0.00;HRun=0;HaplotypeScore=5.21;MQ=98.51;MQ0=0;OQ=4928.12;QD=20.88;RankSumP=0.0138801;SB=-1816.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.284G>A;refseq.codonCoord=95;refseq.end=121515868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_207317;refseq.name2=ZNF474;refseq.positionType=CDS;refseq.proteinCoordStr=p.R95Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=496;refseq.start=121515868;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr5 121516357 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.773T>C;refseq.codonCoord=258;refseq.end=121516357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_207317;refseq.name2=ZNF474;refseq.positionType=CDS;refseq.proteinCoordStr=p.L258P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-809;refseq.start=121516357;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 121516360 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.776A>C;refseq.codonCoord=259;refseq.end=121516360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1152;refseq.name=NM_207317;refseq.name2=ZNF474;refseq.positionType=CDS;refseq.proteinCoordStr=p.H259P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-806;refseq.start=121516360;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 124011814 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.56;MQ0=0;OQ=1146.84;QD=14.89;RankSumP=0.348239;SB=-100.06;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2162C>A;refseq.codonCoord=721;refseq.end=124011814;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2285;refseq.name=NM_020747;refseq.name2=ZNF608;refseq.positionType=CDS;refseq.proteinCoordStr=p.T721N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=912;refseq.start=124011814;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 124012662 . C T 213 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=98.67;MQ0=0;OQ=2556.48;QD=18.53;RankSumP=0.114063;SB=-951.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1314G>A;refseq.codonCoord=438;refseq.end=124012662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1437;refseq.name=NM_020747;refseq.name2=ZNF608;refseq.positionType=CDS;refseq.proteinCoordStr=p.A438A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=64;refseq.start=124012662;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr5 124064829 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.939A>C;refseq.codonCoord=313;refseq.end=124064829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_020747;refseq.name2=ZNF608;refseq.positionType=CDS;refseq.proteinCoordStr=p.P313P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=33;refseq.start=124064829;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 126168421 . T C 329.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=12.91;MQ=98.87;MQ0=0;OQ=6336.74;QD=17.95;RankSumP=0.464479;SB=-2266.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.414T>C;refseq.codonCoord=138;refseq.end=126168421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_005573;refseq.name2=LMNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y138Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=55;refseq.start=126168421;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr5 126760155 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.445A>C;refseq.codonCoord=149;refseq.end=126760155;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_032446;refseq.name2=MEGF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T149P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=33;refseq.start=126760155;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 126774176 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=8.09;MQ=98.84;MQ0=0;OQ=1750.45;QD=17.16;RankSumP=0.485159;SB=-380.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1114C>T;refseq.codonCoord=372;refseq.end=126774176;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1476;refseq.name=NM_032446;refseq.name2=MEGF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L372L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-17;refseq.start=126774176;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr5 126820873 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=20.92;MQ=98.77;MQ0=0;OQ=4842.10;QD=15.77;RankSumP=0.263768;SB=-848.15;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3387T>A;refseq.codonCoord=1129;refseq.end=126820873;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3749;refseq.name=NM_032446;refseq.name2=MEGF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1129G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=155;refseq.start=126820873;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr5 126915468 . G A 337.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=8.15;MQ=98.85;MQ0=0;OQ=8103.25;QD=18.71;RankSumP=0.00408662;SB=-2841.33;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1299G>A;refseq.codonCoord=433;refseq.end=126915468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1479;refseq.name=NM_130809;refseq.name2=PRRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A433A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=171;refseq.start=126915468;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr5 127021148 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=4;HaplotypeScore=3.62;MQ=98.83;MQ0=0;OQ=5247.23;QD=22.14;RankSumP=0.298364;SB=-2057.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.36G>C;refseq.codingCoordStr_2=c.36G>C;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=127021148;refseq.end_2=127021148;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=610;refseq.mrnaCoord_2=419;refseq.name2_1=CTXN3;refseq.name2_2=CTXN3;refseq.name_1=NM_001048252;refseq.name_2=NM_001127385;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V12V;refseq.proteinCoordStr_2=p.V12V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=127021148;refseq.start_2=127021148;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr5 127021162 . A T 322.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.67;MQ0=0;OQ=4388.35;QD=17.48;RankSumP=0.458539;SB=-1768.08;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.50A>T;refseq.codingCoordStr_2=c.50A>T;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=127021162;refseq.end_2=127021162;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=624;refseq.mrnaCoord_2=433;refseq.name2_1=CTXN3;refseq.name2_2=CTXN3;refseq.name_1=NM_001048252;refseq.name_2=NM_001127385;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E17V;refseq.proteinCoordStr_2=p.E17V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=127021162;refseq.start_2=127021162;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr5 127542217 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.43613e-09;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3037A>C;refseq.codonCoord=1013;refseq.end=127542217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3201;refseq.name=NM_001046;refseq.name2=SLC12A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1013P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=60;refseq.start=127542217;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr5 127713034 . C T 266.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=98.76;MQ0=0;OQ=7388.05;QD=41.74;RankSumP=1.00000;SB=-2894.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2893G>A;refseq.codonCoord=965;refseq.end=127713034;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3332;refseq.name=NM_001999;refseq.name2=FBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V965I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=30;refseq.start=127713034;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr5 127732805 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2217A>C;refseq.codonCoord=739;refseq.end=127732805;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2656;refseq.name=NM_001999;refseq.name2=FBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E739D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-32;refseq.start=127732805;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr5 128390729 . A G 218.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.60;MQ0=0;OQ=4258.71;QD=19.63;RankSumP=0.0570333;SB=-1213.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1260A>G;refseq.codingCoordStr_2=c.1260A>G;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.end_1=128390729;refseq.end_2=128390729;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1878;refseq.mrnaCoord_2=1656;refseq.name2_1=SLC27A6;refseq.name2_2=SLC27A6;refseq.name_1=NM_001017372;refseq.name_2=NM_014031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E420E;refseq.proteinCoordStr_2=p.E420E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=128390729;refseq.start_2=128390729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr5 128458656 . T C 196.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.69;MQ0=0;OQ=954.19;QD=17.35;RankSumP=0.405874;SB=-172.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.298T>C;refseq.codonCoord=100;refseq.end=128458656;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_016048;refseq.name2=ISOC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L100L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-12;refseq.start=128458656;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr5 128891370 . A G 286.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=2579.12;QD=40.94;RankSumP=1.00000;SB=-999.40;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1099A>G;refseq.codonCoord=367;refseq.end=128891370;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_133638;refseq.name2=ADAMTS19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S367G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=31;refseq.start=128891370;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr5 129549025 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.82;MQ0=0;OQ=7543.44;QD=20.12;RankSumP=0.188297;SB=-2917.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2291A>G;refseq.codonCoord=764;refseq.end=129549025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2291;refseq.name=NM_175856;refseq.name2=CHSY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D764G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-1202;refseq.start=129549025;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr5 130792643 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_3=c.4655A>C;refseq.codingCoordStr_4=c.4631A>C;refseq.codonCoord_3=1552;refseq.codonCoord_4=1544;refseq.end_1=130794440;refseq.end_2=130794440;refseq.end_3=130792643;refseq.end_4=130792643;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=4861;refseq.mrnaCoord_4=4837;refseq.name2_1=RAPGEF6;refseq.name2_2=RAPGEF6;refseq.name2_3=RAPGEF6;refseq.name2_4=RAPGEF6;refseq.name_1=NM_001164387;refseq.name_2=NM_001164388;refseq.name_3=NM_001164386;refseq.name_4=NM_016340;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.N1552T;refseq.proteinCoordStr_4=p.N1544T;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_3=-150;refseq.spliceDist_4=-150;refseq.start_1=130790894;refseq.start_2=130790894;refseq.start_3=130792643;refseq.start_4=130792643;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chr5 130794561 . T C 191.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1483.66;QD=35.33;RankSumP=1.00000;SB=-709.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.4379A>G;refseq.codingCoordStr_2=c.4394A>G;refseq.codingCoordStr_3=c.4379A>G;refseq.codingCoordStr_4=c.4355A>G;refseq.codonCoord_1=1460;refseq.codonCoord_2=1465;refseq.codonCoord_3=1460;refseq.codonCoord_4=1452;refseq.end_1=130794561;refseq.end_2=130794561;refseq.end_3=130794561;refseq.end_4=130794561;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4585;refseq.mrnaCoord_2=4600;refseq.mrnaCoord_3=4585;refseq.mrnaCoord_4=4561;refseq.name2_1=RAPGEF6;refseq.name2_2=RAPGEF6;refseq.name2_3=RAPGEF6;refseq.name2_4=RAPGEF6;refseq.name_1=NM_001164386;refseq.name_2=NM_001164387;refseq.name_3=NM_001164388;refseq.name_4=NM_016340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q1460R;refseq.proteinCoordStr_2=p.Q1465R;refseq.proteinCoordStr_3=p.Q1460R;refseq.proteinCoordStr_4=p.Q1452R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-111;refseq.spliceDist_2=-111;refseq.spliceDist_3=-111;refseq.spliceDist_4=-111;refseq.start_1=130794561;refseq.start_2=130794561;refseq.start_3=130794561;refseq.start_4=130794561;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr5 131036093 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=544;Dels=0.00;HRun=1;HaplotypeScore=5.10;MQ=98.71;MQ0=0;OQ=10618.38;QD=19.52;RankSumP=0.451072;SB=-4378.87;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1859A>G;refseq.codingCoordStr_2=c.1943A>G;refseq.codonCoord_1=620;refseq.codonCoord_2=648;refseq.end_1=131036093;refseq.end_2=131036093;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2001;refseq.mrnaCoord_2=2085;refseq.name2_1=FNIP1;refseq.name2_2=FNIP1;refseq.name_1=NM_001008738;refseq.name_2=NM_133372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q620R;refseq.proteinCoordStr_2=p.Q648R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=424;refseq.spliceDist_2=424;refseq.start_1=131036093;refseq.start_2=131036093;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr5 131094624 . C A 380.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=10950.56;QD=40.86;RankSumP=1.00000;SB=-3397.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.226G>T;refseq.codingCoordStr_2=c.226G>T;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=131094624;refseq.end_2=131094624;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=368;refseq.name2_1=FNIP1;refseq.name2_2=FNIP1;refseq.name_1=NM_001008738;refseq.name_2=NM_133372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G76C;refseq.proteinCoordStr_2=p.G76C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=131094624;refseq.start_2=131094624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr5 131351688 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=189;Dels=0.00;HRun=1;HaplotypeScore=7.08;MQ=98.93;MQ0=0;OQ=3097.05;QD=16.39;RankSumP=0.00161472;SB=-1341.29;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.783G>A;refseq.codingCoordStr_2=c.783G>A;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.end_1=131351688;refseq.end_2=131351688;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=886;refseq.mrnaCoord_2=886;refseq.name2_1=ACSL6;refseq.name2_2=ACSL6;refseq.name_1=NM_001009185;refseq.name_2=NM_015256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E261E;refseq.proteinCoordStr_2=p.E261E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=131351688;refseq.start_2=131351688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=filterInsoap-gatk GT 0/1 chr5 131424377 . C T 352.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=98.77;MQ0=0;OQ=5265.01;QD=17.55;RankSumP=0.00375357;SB=-1598.95;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.79C>T;refseq.codonCoord=27;refseq.end=131424377;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_000588;refseq.name2=IL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-84;refseq.start=131424377;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 0/1 chr5 131439359 . T C 245.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.60;MQ0=0;OQ=1685.30;QD=17.20;RankSumP=0.285193;SB=-511.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.350T>C;refseq.codonCoord=117;refseq.end=131439359;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_000758;refseq.name2=CSF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I117T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=23;refseq.start=131439359;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr5 131630065 . T C 332.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=98.49;MQ0=0;OQ=4684.51;QD=20.55;RankSumP=0.340784;SB=-1656.50;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.255T>C;refseq.codingCoordStr_2=c.255T>C;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=131630065;refseq.end_2=131630065;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=332;refseq.mrnaCoord_2=332;refseq.name2_1=PDLIM4;refseq.name2_2=PDLIM4;refseq.name_1=NM_001131027;refseq.name_2=NM_003687;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G85G;refseq.proteinCoordStr_2=p.G85G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=131630065;refseq.start_2=131630065;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr5 131690961 . T C 292.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=3895.57;QD=19.19;RankSumP=0.0437309;SB=-1093.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.917T>C;refseq.codonCoord=306;refseq.end=131690961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_003059;refseq.name2=SLC22A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I306T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-35;refseq.start=131690961;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr5 131698445 . C G 302.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=98.69;MQ0=0;OQ=3841.61;QD=20.65;RankSumP=0.388611;SB=-1170.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1182C>G;refseq.codonCoord=394;refseq.end=131698445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_003059;refseq.name2=SLC22A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T394T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-80;refseq.start=131698445;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr5 131704219 . C T 180.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.61;MQ0=0;OQ=3000.48;QD=16.67;RankSumP=0.241996;SB=-1333.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1507C>T;refseq.codonCoord=503;refseq.end=131704219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1672;refseq.name=NM_003059;refseq.name2=SLC22A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L503F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=63;refseq.start=131704219;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr5 131733848 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.09;MQ0=0;OQ=178.17;QD=16.20;RankSumP=0.310800;SB=-6.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.285T>C;refseq.codonCoord=95;refseq.end=131733848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_003060;refseq.name2=SLC22A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L95L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-109;refseq.start=131733848;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr5 131749073 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=29.87;MQ=98.22;MQ0=0;OQ=2882.16;QD=13.22;RankSumP=0.0489845;SB=-256.61;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.807A>G;refseq.codonCoord=269;refseq.end=131749073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_003060;refseq.name2=SLC22A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L269L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-18;refseq.start=131749073;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 131824397 . T C 204.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=913.30;QD=41.51;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.333T>C;refseq.codonCoord=111;refseq.end=131824397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_001013717;refseq.name2=C5orf56;refseq.positionType=CDS;refseq.proteinCoordStr=p.H111H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=245;refseq.start=131824397;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr5 131953382 . G C 210.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=98.97;MQ0=0;OQ=7028.83;QD=21.17;RankSumP=0.226330;SB=-2526.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1406G>C;refseq.codingCoordStr_2=c.989G>C;refseq.codonCoord_1=469;refseq.codonCoord_2=330;refseq.end_1=131953382;refseq.end_2=131953382;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1793;refseq.mrnaCoord_2=1728;refseq.name2_1=RAD50;refseq.name2_2=RAD50;refseq.name_1=NM_005732;refseq.name_2=NM_133482;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G469A;refseq.proteinCoordStr_2=p.G330A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=131953382;refseq.start_2=131953382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr5 132023863 . A G 133.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=3.51;MQ=98.84;MQ0=0;OQ=1686.05;QD=14.66;RankSumP=0.354812;SB=-487.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.431A>G;refseq.codonCoord=144;refseq.end=132023863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_002188;refseq.name2=IL13;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q144R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=98;refseq.start=132023863;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr5 132126141 . A G 126.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=389;Dels=0.00;HRun=0;HaplotypeScore=11.63;MQ=98.81;MQ0=0;OQ=14330.14;QD=36.84;RankSumP=1.00000;SB=-6981.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.630T>C;refseq.codingCoordStr_2=c.630T>C;refseq.codingCoordStr_3=c.450T>C;refseq.codingCoordStr_4=c.630T>C;refseq.codonCoord_1=210;refseq.codonCoord_2=210;refseq.codonCoord_3=150;refseq.codonCoord_4=210;refseq.end_1=132126141;refseq.end_2=132126141;refseq.end_3=132126141;refseq.end_4=132126141;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=868;refseq.mrnaCoord_2=868;refseq.mrnaCoord_3=794;refseq.mrnaCoord_4=868;refseq.name2_1=SEPT8;refseq.name2_2=SEPT8;refseq.name2_3=SEPT8;refseq.name2_4=SEPT8;refseq.name_1=NM_001098811;refseq.name_2=NM_001098812;refseq.name_3=NM_001098813;refseq.name_4=NM_015146;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N210N;refseq.proteinCoordStr_2=p.N210N;refseq.proteinCoordStr_3=p.N150N;refseq.proteinCoordStr_4=p.N210N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.spliceDist_4=-67;refseq.start_1=132126141;refseq.start_2=132126141;refseq.start_3=132126141;refseq.start_4=132126141;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 1/1 chr5 132177583 rs40274 G C 16.73 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=16.73;SB=-10.00;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.371G>C;refseq.codonCoord=124;refseq.end=132177583;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_175873;refseq.name2=ANKRD43;refseq.positionType=CDS;refseq.proteinCoordStr=p.R124P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=652;refseq.start=132177583;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.95,-0.30,-0.00:1.76 chr5 132177923 . C G 11.41 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.41;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.711C>G;refseq.codonCoord=237;refseq.end=132177923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_175873;refseq.name2=ANKRD43;refseq.positionType=CDS;refseq.proteinCoordStr=p.P237P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=992;refseq.start=132177923;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr5 132178847 . T G 434.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=4292.45;QD=40.49;RankSumP=1.00000;SB=-1814.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1635T>G;refseq.codonCoord=545;refseq.end=132178847;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1916;refseq.name=NM_175873;refseq.name2=ANKRD43;refseq.positionType=CDS;refseq.proteinCoordStr=p.F545L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-1542;refseq.start=132178847;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr5 132187033 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=98.94;MQ0=0;OQ=769.94;QD=8.85;RankSumP=0.148142;SB=-141.60;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2034G>A;refseq.codingCoordStr_2=c.2034G>A;refseq.codonCoord_1=678;refseq.codonCoord_2=678;refseq.end_1=132187033;refseq.end_2=132187033;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2839;refseq.mrnaCoord_2=2204;refseq.name2_1=SHROOM1;refseq.name2_2=SHROOM1;refseq.name_1=NM_001172700;refseq.name_2=NM_133456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A678A;refseq.proteinCoordStr_2=p.A678A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=132187033;refseq.start_2=132187033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr5 132187956 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.48;MQ0=0;OQ=1592.85;QD=19.66;RankSumP=0.0882915;SB=-747.76;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1296G>A;refseq.codingCoordStr_2=c.1296G>A;refseq.codonCoord_1=432;refseq.codonCoord_2=432;refseq.end_1=132187956;refseq.end_2=132187956;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2101;refseq.mrnaCoord_2=1466;refseq.name2_1=SHROOM1;refseq.name2_2=SHROOM1;refseq.name_1=NM_001172700;refseq.name_2=NM_133456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q432Q;refseq.proteinCoordStr_2=p.Q432Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=132187956;refseq.start_2=132187956;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr5 132189193 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.65;MQ0=0;OQ=291.92;QD=20.85;RankSumP=0.734965;SB=-38.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.539C>T;refseq.codingCoordStr_2=c.539C>T;refseq.codonCoord_1=180;refseq.codonCoord_2=180;refseq.end_1=132189193;refseq.end_2=132189193;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1344;refseq.mrnaCoord_2=709;refseq.name2_1=SHROOM1;refseq.name2_2=SHROOM1;refseq.name_1=NM_001172700;refseq.name_2=NM_133456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P180L;refseq.proteinCoordStr_2=p.P180L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-440;refseq.spliceDist_2=-440;refseq.start_1=132189193;refseq.start_2=132189193;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr5 132225999 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=9476.15;QD=21.54;RankSumP=0.0112858;SB=-3743.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.546G>A;refseq.codonCoord=182;refseq.end=132225999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_005260;refseq.name2=GDF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E182E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=149;refseq.start=132225999;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr5 132260214 . G A 360.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=9.02;MQ=98.97;MQ0=0;OQ=7049.74;QD=19.97;RankSumP=0.400001;SB=-2525.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2007C>T;refseq.codonCoord=669;refseq.end=132260214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2415;refseq.name=NM_014423;refseq.name2=AFF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P669P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-301;refseq.start=132260214;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr5 132459771 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1733A>C;refseq.codonCoord=578;refseq.end=132459771;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2014;refseq.name=NM_002154;refseq.name2=HSPA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D578A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-71;refseq.start=132459771;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr5 132465430 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=97.17;MQ0=0;OQ=1571.47;QD=14.29;RankSumP=0.487672;SB=-674.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2118C>T;refseq.codonCoord=706;refseq.end=132465430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2399;refseq.name=NM_002154;refseq.name2=HSPA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I706I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-40;refseq.start=132465430;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr5 132597065 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.958A>C;refseq.codonCoord=320;refseq.end=132597065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_015082;refseq.name2=FSTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T320P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-58;refseq.start=132597065;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 132764572 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=207;Dels=0.00;HRun=2;HaplotypeScore=28.16;MQ=96.94;MQ0=0;OQ=59.19;QD=0.29;RankSumP=0.00000;SB=309.05;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.166T>C;refseq.codonCoord=56;refseq.end=132764572;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_015082;refseq.name2=FSTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S56P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=132764572;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 133753844 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.360T>C;refseq.codonCoord=120;refseq.end=133753844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_003337;refseq.name2=UBE2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S120S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=30;refseq.start=133753844;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr5 133773533 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.299A>C;refseq.codonCoord=100;refseq.end=133773533;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_080656;refseq.name2=CDKN2AIPNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D100A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-41;refseq.start=133773533;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr5 133923508 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.401G>C;refseq.codonCoord=134;refseq.end=133923508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=580;refseq.name=NM_015288;refseq.name2=PHF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G134A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-72;refseq.start=133923508;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr5 133923550 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.443A>G;refseq.codonCoord=148;refseq.end=133923550;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_015288;refseq.name2=PHF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.E148G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-30;refseq.start=133923550;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 133984567 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=1;HaplotypeScore=11.76;MQ=98.96;MQ0=0;OQ=8184.03;QD=20.41;RankSumP=0.425579;SB=-2352.51;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.133C>T;refseq.codingCoordStr_2=c.133C>T;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.end_1=133984567;refseq.end_2=133984567;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=386;refseq.mrnaCoord_2=267;refseq.name2_1=SAR1B;refseq.name2_2=SAR1B;refseq.name_1=NM_001033503;refseq.name_2=NM_016103;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L45L;refseq.proteinCoordStr_2=p.L45L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=133984567;refseq.start_2=133984567;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/0 chr5 134180077 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2495C>G;refseq.codonCoord=832;refseq.end=134180077;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2663;refseq.name=NM_014829;refseq.name2=DDX46;refseq.positionType=CDS;refseq.proteinCoordStr=p.A832G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=59;refseq.start=134180077;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 134218963 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.474T>G;refseq.codingCoordStr_2=c.474T>G;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.end_1=134218963;refseq.end_2=134218963;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=722;refseq.mrnaCoord_2=535;refseq.name2_1=C5orf24;refseq.name2_2=C5orf24;refseq.name_1=NM_001135586;refseq.name_2=NM_152409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C158W;refseq.proteinCoordStr_2=p.C158W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=477;refseq.spliceDist_2=477;refseq.start_1=134218963;refseq.start_2=134218963;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr5 134392895 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=12.65;MQ=98.15;MQ0=0;OQ=2314.79;QD=11.29;RankSumP=0.226944;SB=-777.34;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.418C>A;refseq.codonCoord=140;refseq.end=134392895;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_002653;refseq.name2=PITX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R140R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=16;refseq.start=134392895;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr5 134706847 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.950+2;refseq.codingCoordStr_2=c.950+2;refseq.codingCoordStr_3=c.944+2;refseq.codingCoordStr_4=c.953+2;refseq.end_1=134706847;refseq.end_2=134706847;refseq.end_3=134706847;refseq.end_4=134706847;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=H2AFY;refseq.name2_2=H2AFY;refseq.name2_3=H2AFY;refseq.name2_4=H2AFY;refseq.name_1=NM_001040158;refseq.name_2=NM_004893;refseq.name_3=NM_138609;refseq.name_4=NM_138610;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=134706847;refseq.start_2=134706847;refseq.start_3=134706847;refseq.start_4=134706847;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 0/1 chr5 135206023 . T C 92.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=10.17;MQ=98.12;MQ0=0;OQ=6078.92;QD=28.95;RankSumP=1.00000;SB=-1989.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=135206023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_145282;refseq.name2=LOC153328;refseq.positionType=CDS;refseq.proteinCoordStr=p.V22V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=20;refseq.start=135206023;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr5 135235281 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=98.20;MQ0=0;OQ=805.90;QD=12.21;RankSumP=0.156790;SB=-242.71;SecondBestBaseQ=27;refseq.chr=chr5;refseq.end=135251609;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_145282;refseq.name2=LOC153328;refseq.positionType=intron;refseq.start=135216420;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr5 135314928 . T C 226.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.84;MQ0=0;OQ=5336.22;QD=16.17;RankSumP=0.133161;SB=-2112.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.172A>G;refseq.codonCoord=58;refseq.end=135314928;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_002302;refseq.name2=LECT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I58V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=29;refseq.start=135314928;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr5 137002719 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1041C>G;refseq.codonCoord=347;refseq.end=137002719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1485;refseq.name=NM_017415;refseq.name2=KLHL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G347G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=20;refseq.start=137002719;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 137055928 . T C 136.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.63;MQ0=0;OQ=2728.59;QD=13.51;RankSumP=0.0581343;SB=-680.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.471A>G;refseq.codonCoord=157;refseq.end=137055928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_017415;refseq.name2=KLHL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A157A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-56;refseq.start=137055928;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr5 137234459 . A C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=3;HaplotypeScore=11.06;MQ=98.68;MQ0=0;OQ=14927.83;QD=38.98;RankSumP=1.00000;SB=-5684.64;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.220A>C;refseq.codonCoord_2=74;refseq.end_1=137239406;refseq.end_2=137234459;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=529;refseq.name2_1=MYOT;refseq.name2_2=MYOT;refseq.name_1=NM_001135940;refseq.name_2=NM_006790;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K74Q;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-137;refseq.start_1=137234124;refseq.start_2=137234459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr5 137271346 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.992T>G;refseq.codonCoord=331;refseq.end=137271346;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1048;refseq.name=NM_014386;refseq.name2=PKD2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V331G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=17;refseq.start=137271346;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 137272416 . G A 421.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=5856.70;QD=41.24;RankSumP=1.00000;SB=-2731.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1210G>A;refseq.codonCoord=404;refseq.end=137272416;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_014386;refseq.name2=PKD2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V404I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=64;refseq.start=137272416;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr5 137287078 . T C 327.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=2.33;MQ=98.57;MQ0=0;OQ=9820.10;QD=42.88;RankSumP=1.00000;SB=-3770.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1520T>C;refseq.codonCoord=507;refseq.end=137287078;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1576;refseq.name=NM_014386;refseq.name2=PKD2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L507P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-32;refseq.start=137287078;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr5 137351876 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.876A>C;refseq.codingCoordStr_2=c.522A>C;refseq.codingCoordStr_3=c.876A>C;refseq.codonCoord_1=292;refseq.codonCoord_2=174;refseq.codonCoord_3=292;refseq.end_1=137351876;refseq.end_2=137351876;refseq.end_3=137351876;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1410;refseq.mrnaCoord_2=1218;refseq.mrnaCoord_3=1410;refseq.name2_1=FAM13B;refseq.name2_2=FAM13B;refseq.name2_3=FAM13B;refseq.name_1=NM_001101800;refseq.name_2=NM_001101801;refseq.name_3=NM_016603;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L292L;refseq.proteinCoordStr_2=p.L174L;refseq.proteinCoordStr_3=p.L292L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=137351876;refseq.start_2=137351876;refseq.start_3=137351876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=FilteredInAll GT 1/0 chr5 137375397 . G A 258.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=4009.78;QD=44.06;RankSumP=1.00000;SB=-1244.54;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.507C>T;refseq.codingCoordStr_2=c.153C>T;refseq.codingCoordStr_3=c.507C>T;refseq.codonCoord_1=169;refseq.codonCoord_2=51;refseq.codonCoord_3=169;refseq.end_1=137375397;refseq.end_2=137375397;refseq.end_3=137375397;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1041;refseq.mrnaCoord_2=849;refseq.mrnaCoord_3=1041;refseq.name2_1=FAM13B;refseq.name2_2=FAM13B;refseq.name2_3=FAM13B;refseq.name_1=NM_001101800;refseq.name_2=NM_001101801;refseq.name_3=NM_016603;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S169S;refseq.proteinCoordStr_2=p.S51S;refseq.proteinCoordStr_3=p.S169S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=137375397;refseq.start_2=137375397;refseq.start_3=137375397;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr5 137451494 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.342T>G;refseq.codonCoord=114;refseq.end=137451494;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_058244;refseq.name2=WNT8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C114W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-26;refseq.start=137451494;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr5 137451501 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.349T>G;refseq.codonCoord=117;refseq.end=137451501;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_058244;refseq.name2=WNT8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S117A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-19;refseq.start=137451501;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr5 137454346 . G A 308.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.33;MQ0=0;OQ=6062.31;QD=41.52;RankSumP=1.00000;SB=-2523.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.741G>A;refseq.codonCoord=247;refseq.end=137454346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_058244;refseq.name2=WNT8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A247A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=231;refseq.start=137454346;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr5 137454438 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.833A>C;refseq.codonCoord=278;refseq.end=137454438;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_058244;refseq.name2=WNT8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N278T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=323;refseq.start=137454438;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr5 137502301 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1387.70;QD=7.12;RankSumP=5.62148e-09;SB=140.49;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.68T>G;refseq.codonCoord=23;refseq.end=137502301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_003551;refseq.name2=NME5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I23S;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-62;refseq.start=137502301;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 0/1 chr5 137504315 . T C 179.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=468;Dels=0.00;HRun=0;HaplotypeScore=10.41;MQ=98.72;MQ0=0;OQ=16099.73;QD=34.40;RankSumP=1.00000;SB=-6579.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3593A>G;refseq.codonCoord=1198;refseq.end=137504315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3648;refseq.name=NM_139199;refseq.name2=BRD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1198R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-23;refseq.start=137504315;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr5 137509410 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3335T>C;refseq.codonCoord=1112;refseq.end=137509410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3390;refseq.name=NM_139199;refseq.name2=BRD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1112P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-34;refseq.start=137509410;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 137528446 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1596T>C;refseq.codingCoordStr_2=c.1806T>C;refseq.codingCoordStr_3=c.1587T>C;refseq.codonCoord_1=532;refseq.codonCoord_2=602;refseq.codonCoord_3=529;refseq.end_1=137528446;refseq.end_2=137528446;refseq.end_3=137528446;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1651;refseq.mrnaCoord_2=1861;refseq.mrnaCoord_3=1642;refseq.name2_1=BRD8;refseq.name2_2=BRD8;refseq.name2_3=BRD8;refseq.name_1=NM_001164326;refseq.name_2=NM_006696;refseq.name_3=NM_139199;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V532V;refseq.proteinCoordStr_2=p.V602V;refseq.proteinCoordStr_3=p.V529V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-145;refseq.spliceDist_2=-145;refseq.spliceDist_3=-145;refseq.start_1=137528446;refseq.start_2=137528446;refseq.start_3=137528446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=FilteredInAll GT 0/1 chr5 137528564 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=673;Dels=0.00;HRun=0;HaplotypeScore=18.69;MQ=98.68;MQ0=0;OQ=28475.05;QD=42.31;RankSumP=1.00000;SB=-11046.29;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1478C>T;refseq.codingCoordStr_2=c.1688C>T;refseq.codingCoordStr_3=c.1469C>T;refseq.codonCoord_1=493;refseq.codonCoord_2=563;refseq.codonCoord_3=490;refseq.end_1=137528564;refseq.end_2=137528564;refseq.end_3=137528564;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1533;refseq.mrnaCoord_2=1743;refseq.mrnaCoord_3=1524;refseq.name2_1=BRD8;refseq.name2_2=BRD8;refseq.name2_3=BRD8;refseq.name_1=NM_001164326;refseq.name_2=NM_006696;refseq.name_3=NM_139199;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T493M;refseq.proteinCoordStr_2=p.T563M;refseq.proteinCoordStr_3=p.T490M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=191;refseq.spliceDist_2=191;refseq.spliceDist_3=191;refseq.start_1=137528564;refseq.start_2=137528564;refseq.start_3=137528564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr5 137531636 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.892G>T;refseq.codingCoordStr_2=c.892G>T;refseq.codingCoordStr_3=c.673G>T;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.codonCoord_3=225;refseq.end_1=137531636;refseq.end_2=137531636;refseq.end_3=137531636;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=947;refseq.mrnaCoord_2=947;refseq.mrnaCoord_3=728;refseq.name2_1=BRD8;refseq.name2_2=BRD8;refseq.name2_3=BRD8;refseq.name_1=NM_001164326;refseq.name_2=NM_006696;refseq.name_3=NM_139199;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G298C;refseq.proteinCoordStr_2=p.G298C;refseq.proteinCoordStr_3=p.G225C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=137531636;refseq.start_2=137531636;refseq.start_3=137531636;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT 1/0 chr5 137531638 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=2.32165e-09;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.890C>T;refseq.codingCoordStr_2=c.890C>T;refseq.codingCoordStr_3=c.671C>T;refseq.codonCoord_1=297;refseq.codonCoord_2=297;refseq.codonCoord_3=224;refseq.end_1=137531638;refseq.end_2=137531638;refseq.end_3=137531638;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=945;refseq.mrnaCoord_2=945;refseq.mrnaCoord_3=726;refseq.name2_1=BRD8;refseq.name2_2=BRD8;refseq.name2_3=BRD8;refseq.name_1=NM_001164326;refseq.name_2=NM_006696;refseq.name_3=NM_139199;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S297F;refseq.proteinCoordStr_2=p.S297F;refseq.proteinCoordStr_3=p.S224F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=137531638;refseq.start_2=137531638;refseq.start_3=137531638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr5 137617429 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.949A>C;refseq.codonCoord=317;refseq.end=137617429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_001496;refseq.name2=GFRA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T317P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=60;refseq.start=137617429;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 137736333 . C T 151.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=98.93;MQ0=0;OQ=7132.55;QD=22.93;RankSumP=0.437914;SB=-2779.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.264C>T;refseq.codonCoord=88;refseq.end=137736333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I88I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=72;refseq.start=137736333;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr5 137745164 . G A 338.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=98.93;MQ0=0;OQ=5827.67;QD=41.93;RankSumP=1.00000;SB=-2407.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.766G>A;refseq.codonCoord=256;refseq.end=137745164;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A256T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-15;refseq.start=137745164;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 137761790 . A G 200.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=407;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.95;MQ0=0;OQ=17197.31;QD=42.25;RankSumP=1.00000;SB=-5484.19;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2856A>G;refseq.codonCoord=952;refseq.end=137761790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3056;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V952V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=25;refseq.start=137761790;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 137782594 . T C 121.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.81;MQ0=0;OQ=1828.12;QD=12.19;RankSumP=0.165193;SB=-837.13;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3489T>C;refseq.codonCoord=1163;refseq.end=137782594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3689;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1163G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=54;refseq.start=137782594;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr5 137782707 . G A 158.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=99.00;MQ0=0;OQ=1514.90;QD=15.78;RankSumP=0.222423;SB=-580.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3602G>A;refseq.codonCoord=1201;refseq.end=137782707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3802;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1201N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-114;refseq.start=137782707;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr5 137793965 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=24.95;MQ=98.67;MQ0=0;OQ=10623.27;QD=18.84;RankSumP=0.218780;SB=-3671.75;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5022G>A;refseq.codonCoord=1674;refseq.end=137793965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5222;refseq.name=NM_016604;refseq.name2=KDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1674V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-49;refseq.start=137793965;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr5 137808049 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.229C>G;refseq.codonCoord=77;refseq.end=137808049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_016606;refseq.name2=REEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L77V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=47;refseq.start=137808049;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr5 137876415 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.669T>G;refseq.codonCoord=223;refseq.end=137876415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_004730;refseq.name2=ETF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G223G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-64;refseq.start=137876415;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 137877296 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.162750;SecondBestBaseQ=34;refseq.chr=chr5;refseq.codingCoordStr=c.403-2;refseq.end=137877296;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_004730;refseq.name2=ETF1;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=137877296;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr5 137920069 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=697;Dels=0.00;HRun=1;HaplotypeScore=7.24;MQ=98.82;MQ0=0;OQ=13717.68;QD=19.68;RankSumP=0.303828;SB=-5244.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1933C>T;refseq.codonCoord=645;refseq.end=137920069;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2041;refseq.name=NM_004134;refseq.name2=HSPA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L645L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-30;refseq.start=137920069;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr5 137934715 . G A 188.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.78;MQ0=0;OQ=2965.43;QD=20.17;RankSumP=0.286393;SB=-960.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.243C>T;refseq.codonCoord=81;refseq.end=137934715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_004134;refseq.name2=HSPA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A81A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=15;refseq.start=137934715;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 138146937 . C G 14.51 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=428;Dels=0.00;HRun=1;HaplotypeScore=62.98;MQ=98.02;MQ0=0;QD=0.03;RankSumP=0.00000;SB=760.62;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.278C>G;refseq.codonCoord=93;refseq.end=138146937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_001903;refseq.name2=CTNNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A93G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-24;refseq.start=138146937;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 138294445 . G A 189.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.39;MQ0=0;OQ=1750.26;QD=13.46;RankSumP=0.140234;SB=-839.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2220G>A;refseq.codonCoord=740;refseq.end=138294445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2315;refseq.name=NM_001903;refseq.name2=CTNNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S740S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=28;refseq.start=138294445;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr5 138484714 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=98.64;MQ0=0;OQ=725.01;QD=13.43;RankSumP=0.339733;SB=-235.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.153A>G;refseq.codingCoordStr_2=c.153A>G;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.end_1=138484714;refseq.end_2=138484714;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=271;refseq.name2_1=SIL1;refseq.name2_2=SIL1;refseq.name_1=NM_001037633;refseq.name_2=NM_022464;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T51T;refseq.proteinCoordStr_2=p.T51T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=138484714;refseq.start_2=138484714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr5 138741858 . A C 145.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1214.63;QD=31.14;RankSumP=1.00000;SB=-563.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1261T>G;refseq.codingCoordStr_2=c.1273T>G;refseq.codonCoord_1=421;refseq.codonCoord_2=425;refseq.end_1=138741858;refseq.end_2=138741858;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1358;refseq.mrnaCoord_2=1370;refseq.name2_1=SLC23A1;refseq.name2_2=SLC23A1;refseq.name_1=NM_005847;refseq.name_2=NM_152685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S421A;refseq.proteinCoordStr_2=p.S425A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=138741858;refseq.start_2=138741858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr5 138800989 . A G 337.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=98.67;MQ0=0;OQ=6007.59;QD=19.26;RankSumP=0.0789958;SB=-2006.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.198T>C;refseq.codonCoord=66;refseq.end=138800989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=203;refseq.name=NM_152686;refseq.name2=DNAJC18;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y66Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-30;refseq.start=138800989;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr5 138838103 . T C 201.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=9.53;MQ=99.00;MQ0=0;OQ=6635.23;QD=34.03;RankSumP=1.00000;SB=-2218.19;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.695A>G;refseq.codonCoord=232;refseq.end=138838103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_198282;refseq.name2=TMEM173;refseq.positionType=CDS;refseq.proteinCoordStr=p.H232R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-65;refseq.start=138838103;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr5 138841330 . C G 150.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=4.98;MQ=98.38;MQ0=0;OQ=4340.06;QD=42.14;RankSumP=1.00000;SB=-1328.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.144G>C;refseq.codonCoord=48;refseq.end=138841330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_198282;refseq.name2=TMEM173;refseq.positionType=CDS;refseq.proteinCoordStr=p.V48V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-84;refseq.start=138841330;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr5 139040571 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.279T>G;refseq.codonCoord=93;refseq.end=139040571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_016463;refseq.name2=CXXC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G93G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=439;refseq.start=139040571;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 139800815 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=1.35361e-08;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.817A>C;refseq.codingCoordStr_2=c.784A>C;refseq.codingCoordStr_3=c.817A>C;refseq.codingCoordStr_4=c.817A>C;refseq.codonCoord_1=273;refseq.codonCoord_2=262;refseq.codonCoord_3=273;refseq.codonCoord_4=273;refseq.end_1=139800815;refseq.end_2=139800815;refseq.end_3=139800815;refseq.end_4=139800815;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=908;refseq.mrnaCoord_3=941;refseq.mrnaCoord_4=941;refseq.name2_1=ANKHD1;refseq.name2_2=ANKHD1;refseq.name2_3=ANKHD1-EIF4EBP3;refseq.name2_4=ANKHD1;refseq.name_1=NM_017747;refseq.name_2=NM_017978;refseq.name_3=NM_020690;refseq.name_4=NM_024668;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I273L;refseq.proteinCoordStr_2=p.I262L;refseq.proteinCoordStr_3=p.I273L;refseq.proteinCoordStr_4=p.I273L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.start_1=139800815;refseq.start_2=139800815;refseq.start_3=139800815;refseq.start_4=139800815;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=FilteredInAll GT 0/1 chr5 139911813 . C G 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=22;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.328G>C;refseq.codonCoord=110;refseq.end=139911813;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_001035235;refseq.name2=SRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V110L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-63;refseq.start=139911813;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr5 139911816 . C T 69 Indel AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.74;MQ0=0;QD=6.27;SB=-46.55;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.325G>A;refseq.codonCoord=109;refseq.end=139911816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_001035235;refseq.name2=SRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A109T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-66;refseq.start=139911816;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:5,6:5:-11.69,-1.51,-7.69:61.87 chr5 139916944 . G T 93.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=93.73;MQ0=0;OQ=1979.66;QD=27.88;RankSumP=1.00000;SB=-871.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.159C>A;refseq.codonCoord=53;refseq.end=139916944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_001035235;refseq.name2=SRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V53V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-29;refseq.start=139916944;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr5 139917238 . C T 31.32 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;QD=3.48;SB=-38.62;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.20G>A;refseq.codonCoord=7;refseq.end=139917238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_001035235;refseq.name2=SRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G7D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-42;refseq.start=139917238;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:7:-8.52,-2.11,-19.75:64.16 chr5 139920417 . G A 375.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.64;MQ0=0;OQ=10570.28;QD=41.13;RankSumP=1.00000;SB=-3258.24;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.1044C>T;refseq.codingCoordStr_2=c.1038C>T;refseq.codingCoordStr_3=c.1023C>T;refseq.codingCoordStr_4=c.1017C>T;refseq.codonCoord_1=348;refseq.codonCoord_2=346;refseq.codonCoord_3=341;refseq.codonCoord_4=339;refseq.end_1=139920417;refseq.end_2=139920417;refseq.end_3=139920417;refseq.end_4=139920417;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1403;refseq.mrnaCoord_2=1397;refseq.mrnaCoord_3=1382;refseq.mrnaCoord_4=1376;refseq.name2_1=APBB3;refseq.name2_2=APBB3;refseq.name2_3=APBB3;refseq.name2_4=APBB3;refseq.name_1=NM_006051;refseq.name_2=NM_133172;refseq.name_3=NM_133173;refseq.name_4=NM_133174;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H348H;refseq.proteinCoordStr_2=p.H346H;refseq.proteinCoordStr_3=p.H341H;refseq.proteinCoordStr_4=p.H339H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=139920417;refseq.start_2=139920417;refseq.start_3=139920417;refseq.start_4=139920417;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 1/1 chr5 139921412 . A G 443.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.58;MQ0=0;OQ=3739.69;QD=37.40;RankSumP=1.00000;SB=-1748.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_1=c.712T>C;refseq.codingCoordStr_2=c.706T>C;refseq.codingCoordStr_3=c.691T>C;refseq.codingCoordStr_4=c.685T>C;refseq.codonCoord_1=238;refseq.codonCoord_2=236;refseq.codonCoord_3=231;refseq.codonCoord_4=229;refseq.end_1=139921412;refseq.end_2=139921412;refseq.end_3=139921412;refseq.end_4=139921412;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1071;refseq.mrnaCoord_2=1065;refseq.mrnaCoord_3=1050;refseq.mrnaCoord_4=1044;refseq.name2_1=APBB3;refseq.name2_2=APBB3;refseq.name2_3=APBB3;refseq.name2_4=APBB3;refseq.name_1=NM_006051;refseq.name_2=NM_133172;refseq.name_3=NM_133173;refseq.name_4=NM_133174;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C238R;refseq.proteinCoordStr_2=p.C236R;refseq.proteinCoordStr_3=p.C231R;refseq.proteinCoordStr_4=p.C229R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.start_1=139921412;refseq.start_2=139921412;refseq.start_3=139921412;refseq.start_4=139921412;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/1 chr5 139927903 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.965G>C;refseq.codonCoord=322;refseq.end=139927903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1693;refseq.name=NM_080670;refseq.name2=SLC35A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G322A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-965;refseq.start=139927903;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr5 140001768 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.17443e-05;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.444G>C;refseq.codonCoord=148;refseq.end=140001768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_018502;refseq.name2=TMCO6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-55;refseq.start=140001768;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr5 140028451 . T C 218.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=8.58;MQ=98.95;MQ0=0;OQ=10621.74;QD=36.75;RankSumP=1.00000;SB=-3601.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.451T>C;refseq.codonCoord=151;refseq.end=140028451;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_017706;refseq.name2=WDR55;refseq.positionType=CDS;refseq.proteinCoordStr=p.C151R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=71;refseq.start=140028451;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr5 140032591 . G A 39.64 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=91.25;MQ0=0;QD=1.24;SB=-10.00;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.227C>T;refseq.codonCoord=76;refseq.end=140032591;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_194249;refseq.name2=DND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P76L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=85;refseq.start=140032591;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:22,8:19:-12.97,-5.72,-65.59:72.48 chr5 140032608 . G A 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=24;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=90.46;MQ0=0;OQ=171.35;QD=7.14;RankSumP=0.525275;SB=-3.99;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.210C>T;refseq.codonCoord=70;refseq.end=140032608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_194249;refseq.name2=DND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y70Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=68;refseq.start=140032608;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr5 140032614 . G T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=20;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=90.32;MQ0=0;OQ=116.98;QD=5.85;RankSumP=0.750000;SB=-3.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.204C>A;refseq.codonCoord=68;refseq.end=140032614;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_194249;refseq.name2=DND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D68E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=62;refseq.start=140032614;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 0/1 chr5 140038814 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=3;RankSumP=0.000187211;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.479A>C;refseq.codonCoord=160;refseq.end=140038814;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_002109;refseq.name2=HARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.N160T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-44;refseq.start=140038814;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 140147555 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1496T>G;refseq.codingCoordStr_2=c.1496T>G;refseq.codingCoordStr_3=c.1496T>G;refseq.codonCoord_1=499;refseq.codonCoord_2=499;refseq.codonCoord_3=499;refseq.end_1=140147555;refseq.end_2=140147555;refseq.end_3=140147555;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1496;refseq.mrnaCoord_2=1496;refseq.mrnaCoord_3=1496;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA1;refseq.name_1=NM_018900;refseq.name_2=NM_031410;refseq.name_3=NM_031411;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V499G;refseq.proteinCoordStr_2=p.V499G;refseq.proteinCoordStr_3=p.V499G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-899;refseq.spliceDist_2=-1075;refseq.spliceDist_3=-107;refseq.start_1=140147555;refseq.start_2=140147555;refseq.start_3=140147555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr5 140147647 . C T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=15.89;MQ=89.28;MQ0=13;OQ=7512.59;QD=32.38;RankSumP=1.00000;SB=-3312.93;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1588C>T;refseq.codingCoordStr_2=c.1588C>T;refseq.codingCoordStr_3=c.1588C>T;refseq.codonCoord_1=530;refseq.codonCoord_2=530;refseq.codonCoord_3=530;refseq.end_1=140147647;refseq.end_2=140147647;refseq.end_3=140147647;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1588;refseq.mrnaCoord_2=1588;refseq.mrnaCoord_3=1588;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA1;refseq.name_1=NM_018900;refseq.name_2=NM_031410;refseq.name_3=NM_031411;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L530L;refseq.proteinCoordStr_2=p.L530L;refseq.proteinCoordStr_3=p.L530L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-807;refseq.spliceDist_2=-983;refseq.spliceDist_3=-15;refseq.start_1=140147647;refseq.start_2=140147647;refseq.start_3=140147647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr5 140148254 . A G 348.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.92;MQ0=0;OQ=1933.14;QD=35.80;RankSumP=1.00000;SB=-870.23;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.2195A>G;refseq.codingCoordStr_3=c.2195A>G;refseq.codonCoord_2=732;refseq.codonCoord_3=732;refseq.end_1=140338707;refseq.end_2=140148254;refseq.end_3=140148254;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2195;refseq.mrnaCoord_3=2195;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA1;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_031410;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y732C;refseq.proteinCoordStr_3=p.Y732C;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_2=-200;refseq.spliceDist_3=-376;refseq.start_1=140147672;refseq.start_2=140148254;refseq.start_3=140148254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/1 chr5 140148335 . G T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.41;MQ=97.56;MQ0=0;OQ=1710.43;QD=25.53;RankSumP=1.00000;SB=-503.16;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.2276G>T;refseq.codingCoordStr_3=c.2276G>T;refseq.codonCoord_2=759;refseq.codonCoord_3=759;refseq.end_1=140338707;refseq.end_2=140148335;refseq.end_3=140148335;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2276;refseq.mrnaCoord_3=2276;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA1;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_031410;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C759F;refseq.proteinCoordStr_3=p.C759F;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_2=-119;refseq.spliceDist_3=-295;refseq.start_1=140147672;refseq.start_2=140148335;refseq.start_3=140148335;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr5 140154806 . G A 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=5.81;MQ=79.90;MQ0=11;OQ=2061.20;QD=24.54;RankSumP=1.00000;SB=-650.66;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_3=c.73G>A;refseq.codingCoordStr_4=c.73G>A;refseq.codonCoord_3=25;refseq.codonCoord_4=25;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140154806;refseq.end_4=140154806;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=179;refseq.mrnaCoord_4=179;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA2;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_031495;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E25K;refseq.proteinCoordStr_4=p.E25K;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_3=179;refseq.spliceDist_4=179;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140154806;refseq.start_4=140154806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr5 140155049 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=737;Dels=0.00;HRun=1;HaplotypeScore=24.59;MQ=62.77;MQ0=18;OQ=30987.47;QD=42.05;RankSumP=1.00000;SB=-13389.21;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_3=c.316G>C;refseq.codingCoordStr_4=c.316G>C;refseq.codonCoord_3=106;refseq.codonCoord_4=106;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140155049;refseq.end_4=140155049;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=422;refseq.mrnaCoord_4=422;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA2;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_031495;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V106L;refseq.proteinCoordStr_4=p.V106L;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_3=422;refseq.spliceDist_4=422;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140155049;refseq.start_4=140155049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr5 140161125 . G A 13.65 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=265;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=52.30;MQ0=79;QD=0.05;SB=45.29;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.159G>A;refseq.codingCoordStr_5=c.159G>A;refseq.codonCoord_4=53;refseq.codonCoord_5=53;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140161125;refseq.end_5=140161125;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=159;refseq.mrnaCoord_5=159;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.G53G;refseq.proteinCoordStr_5=p.G53G;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_4=GGG;refseq.referenceCodon_5=GGG;refseq.spliceDist_4=159;refseq.spliceDist_5=159;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140161125;refseq.start_5=140161125;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:232,31:124:-41.98,-37.35,-460.70:46.29 chr5 140161131 . G T 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=280;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=49.85;MQ0=101;OQ=60.82;QD=0.22;SB=20.26;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.165G>T;refseq.codingCoordStr_5=c.165G>T;refseq.codonCoord_4=55;refseq.codonCoord_5=55;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140161131;refseq.end_5=140161131;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=165;refseq.mrnaCoord_5=165;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.E55D;refseq.proteinCoordStr_5=p.E55D;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_4=165;refseq.spliceDist_5=165;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140161131;refseq.start_5=140161131;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:245,34:111:-42.79,-33.42,-405.38:93.65 chr5 140161918 . A G 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=31.65;MQ=98.66;MQ0=0;OQ=19555.07;QD=40.49;RankSumP=1.00000;SB=-7112.43;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.952A>G;refseq.codingCoordStr_5=c.952A>G;refseq.codonCoord_4=318;refseq.codonCoord_5=318;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140161918;refseq.end_5=140161918;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=952;refseq.mrnaCoord_5=952;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.I318V;refseq.proteinCoordStr_5=p.I318V;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.spliceDist_4=952;refseq.spliceDist_5=952;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140161918;refseq.start_5=140161918;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;set=Intersection GT 1/1 chr5 140162076 . T C 179.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=1;HaplotypeScore=4.55;MQ=98.21;MQ0=0;OQ=15908.19;QD=39.67;RankSumP=1.00000;SB=-6493.93;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.1110T>C;refseq.codingCoordStr_5=c.1110T>C;refseq.codonCoord_4=370;refseq.codonCoord_5=370;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140162076;refseq.end_5=140162076;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=1110;refseq.mrnaCoord_5=1110;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.A370A;refseq.proteinCoordStr_5=p.A370A;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_4=1110;refseq.spliceDist_5=1110;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140162076;refseq.start_5=140162076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/1 chr5 140162285 . G T 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=16.36;MQ=95.34;MQ0=0;OQ=14169.80;QD=34.06;RankSumP=1.00000;SB=-5293.42;SecondBestBaseQ=2;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.1319G>T;refseq.codingCoordStr_5=c.1319G>T;refseq.codonCoord_4=440;refseq.codonCoord_5=440;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140162285;refseq.end_5=140162285;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=1319;refseq.mrnaCoord_5=1319;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.S440I;refseq.proteinCoordStr_5=p.S440I;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_4=-1076;refseq.spliceDist_5=-1157;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140162285;refseq.start_5=140162285;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;set=Intersection GT 1/1 chr5 140163242 . G A 304.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.96;MQ0=0;OQ=3415.62;QD=32.84;RankSumP=1.00000;SB=-1632.70;SecondBestBaseQ=2;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_4=c.2276G>A;refseq.codingCoordStr_5=c.2276G>A;refseq.codonCoord_4=759;refseq.codonCoord_5=759;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140163242;refseq.end_5=140163242;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=2276;refseq.mrnaCoord_5=2276;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA3;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_031497;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.C759Y;refseq.proteinCoordStr_5=p.C759Y;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.spliceDist_4=-119;refseq.spliceDist_5=-200;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163242;refseq.start_5=140163242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;set=Intersection GT 1/1 chr5 140167121 . G T 185.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=79.88;MQ0=4;OQ=3137.68;QD=32.35;RankSumP=1.00000;SB=-1519.79;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.165G>T;refseq.codingCoordStr_6=c.165G>T;refseq.codonCoord_5=55;refseq.codonCoord_6=55;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167121;refseq.end_6=140167121;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=266;refseq.mrnaCoord_6=266;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.E55D;refseq.proteinCoordStr_6=p.E55D;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.spliceDist_5=266;refseq.spliceDist_6=266;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167121;refseq.start_6=140167121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;set=Intersection GT 1/1 chr5 140167163 . G A 116.88 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.65;MQ=74.14;MQ0=3;QD=10.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.207G>A;refseq.codingCoordStr_6=c.207G>A;refseq.codonCoord_5=69;refseq.codonCoord_6=69;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167163;refseq.end_6=140167163;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=308;refseq.mrnaCoord_6=308;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.K69K;refseq.proteinCoordStr_6=p.K69K;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.spliceDist_5=308;refseq.spliceDist_6=308;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167163;refseq.start_6=140167163;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;set=FilteredInAll GT 1/1 chr5 140167164 . G A 110.87 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=77.61;MQ0=3;QD=11.09;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.208G>A;refseq.codingCoordStr_6=c.208G>A;refseq.codonCoord_5=70;refseq.codonCoord_6=70;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167164;refseq.end_6=140167164;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=309;refseq.mrnaCoord_6=309;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.G70S;refseq.proteinCoordStr_6=p.G70S;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_5=309;refseq.spliceDist_6=309;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167164;refseq.start_6=140167164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_5=AGC;refseq.variantCodon_6=AGC;set=FilteredInAll GT 1/1 chr5 140167166 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=2;HRun=0;RankSumP=0.600000;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.210C>A;refseq.codingCoordStr_6=c.210C>A;refseq.codonCoord_5=70;refseq.codonCoord_6=70;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167166;refseq.end_6=140167166;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=311;refseq.mrnaCoord_6=311;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.G70G;refseq.proteinCoordStr_6=p.G70G;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_5=311;refseq.spliceDist_6=311;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167166;refseq.start_6=140167166;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_5=GGA;refseq.variantCodon_6=GGA;set=FilteredInAll GT 1/0 chr5 140167168 . G A 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.212G>A;refseq.codingCoordStr_6=c.212G>A;refseq.codonCoord_5=71;refseq.codonCoord_6=71;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167168;refseq.end_6=140167168;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=313;refseq.mrnaCoord_6=313;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.R71H;refseq.proteinCoordStr_6=p.R71H;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.spliceDist_5=313;refseq.spliceDist_6=313;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167168;refseq.start_6=140167168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;set=FilteredInAll GT 1/1 chr5 140167170 . G C 0 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.214G>C;refseq.codingCoordStr_6=c.214G>C;refseq.codonCoord_5=72;refseq.codonCoord_6=72;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167170;refseq.end_6=140167170;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=315;refseq.mrnaCoord_6=315;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.G72R;refseq.proteinCoordStr_6=p.G72R;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_5=GGA;refseq.referenceCodon_6=GGA;refseq.spliceDist_5=315;refseq.spliceDist_6=315;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167170;refseq.start_6=140167170;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_5=CGA;refseq.variantCodon_6=CGA;set=FilteredInAll GT 1/1 chr5 140167172 rs3822350 A G 44.56 LowQual;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=86.73;MQ0=0;QD=11.14;SB=-48.69;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.216A>G;refseq.codingCoordStr_6=c.216A>G;refseq.codonCoord_5=72;refseq.codonCoord_6=72;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167172;refseq.end_6=140167172;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=317;refseq.mrnaCoord_6=317;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.G72G;refseq.proteinCoordStr_6=p.G72G;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_5=GGA;refseq.referenceCodon_6=GGA;refseq.spliceDist_5=317;refseq.spliceDist_6=317;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167172;refseq.start_6=140167172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,4:2:-7.86,-0.60,-0.00:6.02 chr5 140167174 . G A 82.01 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.19;MQ0=0;QD=16.40;RankSumP=1.00000;SB=-46.56;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.218G>A;refseq.codingCoordStr_6=c.218G>A;refseq.codonCoord_5=73;refseq.codonCoord_6=73;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167174;refseq.end_6=140167174;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=319;refseq.mrnaCoord_6=319;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.G73D;refseq.proteinCoordStr_6=p.G73D;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_5=319;refseq.spliceDist_6=319;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167174;refseq.start_6=140167174;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;set=FilteredInAll GT 1/1 chr5 140167232 . G C 115.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=54.09;MQ0=92;OQ=4148.30;QD=22.67;RankSumP=1.00000;SB=-481.10;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.276G>C;refseq.codingCoordStr_6=c.276G>C;refseq.codonCoord_5=92;refseq.codonCoord_6=92;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167232;refseq.end_6=140167232;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=377;refseq.mrnaCoord_6=377;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.R92R;refseq.proteinCoordStr_6=p.R92R;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceCodon_5=CGG;refseq.referenceCodon_6=CGG;refseq.spliceDist_5=377;refseq.spliceDist_6=377;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167232;refseq.start_6=140167232;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_5=CGC;refseq.variantCodon_6=CGC;set=Intersection GT 1/1 chr5 140167286 . A G 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=13.90;MQ=68.84;MQ0=71;OQ=5564.70;QD=20.84;RankSumP=1.00000;SB=-469.18;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.330A>G;refseq.codingCoordStr_6=c.330A>G;refseq.codonCoord_5=110;refseq.codonCoord_6=110;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167286;refseq.end_6=140167286;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=431;refseq.mrnaCoord_6=431;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.V110V;refseq.proteinCoordStr_6=p.V110V;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_5=GTA;refseq.referenceCodon_6=GTA;refseq.spliceDist_5=431;refseq.spliceDist_6=431;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167286;refseq.start_6=140167286;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_5=GTG;refseq.variantCodon_6=GTG;set=Intersection GT 1/1 chr5 140167506 . C T 373.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.30;MQ0=0;OQ=8469.54;QD=41.11;RankSumP=1.00000;SB=-3735.37;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.550C>T;refseq.codingCoordStr_6=c.550C>T;refseq.codonCoord_5=184;refseq.codonCoord_6=184;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140167506;refseq.end_6=140167506;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=651;refseq.mrnaCoord_6=651;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.P184S;refseq.proteinCoordStr_6=p.P184S;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.spliceDist_5=651;refseq.spliceDist_6=651;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140167506;refseq.start_6=140167506;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;set=Intersection GT 1/1 chr5 140168567 . T G 279.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=58.70;MQ0=45;OQ=4030.50;QD=21.21;RankSumP=1.00000;SB=-1683.07;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.1611T>G;refseq.codingCoordStr_6=c.1611T>G;refseq.codonCoord_5=537;refseq.codonCoord_6=537;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140168567;refseq.end_6=140168567;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=1712;refseq.mrnaCoord_6=1712;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.A537A;refseq.proteinCoordStr_6=p.A537A;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_5=-775;refseq.spliceDist_6=-787;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140168567;refseq.start_6=140168567;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_5=GCG;refseq.variantCodon_6=GCG;set=Intersection GT 1/1 chr5 140168585 . A G 199.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=62.72;MQ0=36;OQ=4026.12;QD=23.68;RankSumP=1.00000;SB=-2000.70;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.1629A>G;refseq.codingCoordStr_6=c.1629A>G;refseq.codonCoord_5=543;refseq.codonCoord_6=543;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140168585;refseq.end_6=140168585;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=1730;refseq.mrnaCoord_6=1730;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.P543P;refseq.proteinCoordStr_6=p.P543P;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_5=CCA;refseq.referenceCodon_6=CCA;refseq.spliceDist_5=-757;refseq.spliceDist_6=-769;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140168585;refseq.start_6=140168585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_5=CCG;refseq.variantCodon_6=CCG;set=Intersection GT 1/1 chr5 140168759 . G C 178.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=6.07;MQ=97.25;MQ0=0;OQ=5025.86;QD=40.21;RankSumP=1.00000;SB=-1693.94;SecondBestBaseQ=32;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.codingCoordStr_5=c.1803G>C;refseq.codingCoordStr_6=c.1803G>C;refseq.codonCoord_5=601;refseq.codonCoord_6=601;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140168759;refseq.end_6=140168759;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=1904;refseq.mrnaCoord_6=1904;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA4;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_031500;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.S601S;refseq.proteinCoordStr_6=p.S601S;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.spliceDist_5=-583;refseq.spliceDist_6=-595;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140168759;refseq.start_6=140168759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;set=Intersection GT 1/1 chr5 140181604 . T C 232.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.15;MQ0=0;OQ=1949.15;QD=32.49;RankSumP=1.00000;SB=-744.18;SecondBestBaseQ=0;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.codingCoordStr_6=c.60T>C;refseq.codingCoordStr_7=c.60T>C;refseq.codonCoord_6=20;refseq.codonCoord_7=20;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140181604;refseq.end_7=140181604;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_6=60;refseq.mrnaCoord_7=60;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA5;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031501;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_6=p.L20L;refseq.proteinCoordStr_7=p.L20L;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_6=CTT;refseq.referenceCodon_7=CTT;refseq.spliceDist_6=60;refseq.spliceDist_7=60;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140181604;refseq.start_7=140181604;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_6=CTC;refseq.variantCodon_7=CTC;set=Intersection GT 1/1 chr5 140183616 . C T 152.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=95.92;MQ0=0;OQ=4166.33;QD=32.05;RankSumP=1.00000;SB=-1664.26;SecondBestBaseQ=2;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.codingCoordStr_6=c.2072C>T;refseq.codingCoordStr_7=c.2072C>T;refseq.codonCoord_6=691;refseq.codonCoord_7=691;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140183616;refseq.end_7=140183616;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_6=2072;refseq.mrnaCoord_7=2072;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA5;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031501;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_6=p.A691V;refseq.proteinCoordStr_7=p.A691V;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_6=-281;refseq.spliceDist_7=-380;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183616;refseq.start_7=140183616;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;set=Intersection GT 1/1 chr5 140188149 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.390918;SecondBestBaseQ=33;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_7=c.289G>C;refseq.codingCoordStr_8=c.289G>C;refseq.codingCoordStr_9=c.289G>C;refseq.codonCoord_7=97;refseq.codonCoord_8=97;refseq.codonCoord_9=97;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140188149;refseq.end_8=140188149;refseq.end_9=140188149;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_7=316;refseq.mrnaCoord_8=316;refseq.mrnaCoord_9=316;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA6;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_018909;refseq.name_8=NM_031848;refseq.name_9=NM_031849;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_7=p.G97R;refseq.proteinCoordStr_8=p.G97R;refseq.proteinCoordStr_9=p.G97R;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceAA_9=Gly;refseq.referenceCodon_7=GGG;refseq.referenceCodon_8=GGG;refseq.referenceCodon_9=GGG;refseq.spliceDist_7=316;refseq.spliceDist_8=316;refseq.spliceDist_9=316;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140188149;refseq.start_8=140188149;refseq.start_9=140188149;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantAA_9=Arg;refseq.variantCodon_7=CGG;refseq.variantCodon_8=CGG;refseq.variantCodon_9=CGG;set=soap GT 0/1 chr5 140189651 . T G 117.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=7.17;MQ=92.61;MQ0=0;OQ=5825.71;QD=34.68;RankSumP=1.00000;SB=-2449.34;SecondBestBaseQ=0;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_8=c.1791T>G;refseq.codingCoordStr_9=c.1791T>G;refseq.codonCoord_8=597;refseq.codonCoord_9=597;refseq.end_1=140338707;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140189651;refseq.end_9=140189651;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_8=1818;refseq.mrnaCoord_9=1818;refseq.name2_1=PCDHA1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA6;refseq.name_1=NM_031411;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_031848;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_8=p.V597V;refseq.proteinCoordStr_9=p.V597V;refseq.referenceAA_8=Val;refseq.referenceAA_9=Val;refseq.referenceCodon_8=GTT;refseq.referenceCodon_9=GTT;refseq.spliceDist_8=-604;refseq.spliceDist_9=-622;refseq.start_1=140147672;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140189651;refseq.start_9=140189651;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_8=Val;refseq.variantAA_9=Val;refseq.variantCodon_8=GTG;refseq.variantCodon_9=GTG;set=Intersection GT 1/1 chr5 140194565 . G A 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=3;HaplotypeScore=4.25;MQ=23.84;MQ0=187;OQ=2266.77;QD=8.68;RankSumP=1.00000;SB=-54.67;SecondBestBaseQ=0;refseq.changesAA_10=true;refseq.changesAA_9=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.413G>A;refseq.codingCoordStr_9=c.413G>A;refseq.codonCoord_10=138;refseq.codonCoord_9=138;refseq.end_1=140338707;refseq.end_10=140194565;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140194565;refseq.frame_10=1;refseq.frame_9=1;refseq.functionalClass_10=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=413;refseq.mrnaCoord_9=413;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA7;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_031852;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=10;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.R138K;refseq.proteinCoordStr_9=p.R138K;refseq.referenceAA_10=Arg;refseq.referenceAA_9=Arg;refseq.referenceCodon_10=AGG;refseq.referenceCodon_9=AGG;refseq.spliceDist_10=413;refseq.spliceDist_9=413;refseq.start_1=140147672;refseq.start_10=140194565;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140194565;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Lys;refseq.variantAA_9=Lys;refseq.variantCodon_10=AAG;refseq.variantCodon_9=AAG;set=Intersection GT 1/1 chr5 140195910 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=142;Dels=0.00;HRun=3;HaplotypeScore=2.00;MQ=96.95;MQ0=0;OQ=2521.36;QD=17.76;RankSumP=0.0693741;SB=-1062.54;SecondBestBaseQ=32;refseq.changesAA_10=false;refseq.changesAA_9=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.1758C>G;refseq.codingCoordStr_9=c.1758C>G;refseq.codonCoord_10=586;refseq.codonCoord_9=586;refseq.end_1=140338707;refseq.end_10=140195910;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140195910;refseq.frame_10=2;refseq.frame_9=2;refseq.functionalClass_10=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=1758;refseq.mrnaCoord_9=1758;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA7;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_031852;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=10;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.G586G;refseq.proteinCoordStr_9=p.G586G;refseq.referenceAA_10=Gly;refseq.referenceAA_9=Gly;refseq.referenceCodon_10=GGC;refseq.referenceCodon_9=GGC;refseq.spliceDist_10=-613;refseq.spliceDist_9=-598;refseq.start_1=140147672;refseq.start_10=140195910;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140195910;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_10=GGG;refseq.variantCodon_9=GGG;set=Intersection GT 1/0 chr5 140201231 . G C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=0;HaplotypeScore=10.76;MQ=42.53;MQ0=77;OQ=106.13;QD=0.56;SB=-67.44;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.141G>C;refseq.codingCoordStr_11=c.141G>C;refseq.codonCoord_10=47;refseq.codonCoord_11=47;refseq.end_1=140338707;refseq.end_10=140201231;refseq.end_11=140201231;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=2;refseq.frame_11=2;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=141;refseq.mrnaCoord_11=141;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.R47R;refseq.proteinCoordStr_11=p.R47R;refseq.referenceAA_10=Arg;refseq.referenceAA_11=Arg;refseq.referenceCodon_10=CGG;refseq.referenceCodon_11=CGG;refseq.spliceDist_10=141;refseq.spliceDist_11=141;refseq.start_1=140147672;refseq.start_10=140201231;refseq.start_11=140201231;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Arg;refseq.variantAA_11=Arg;refseq.variantCodon_10=CGC;refseq.variantCodon_11=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:154,37:66:-33.77,-19.88,-288.10:99 chr5 140201249 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=34.58;MQ0=122;OQ=1002.29;QD=3.32;RankSumP=0.00235195;SB=-402.86;SecondBestBaseQ=33;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.159G>A;refseq.codingCoordStr_11=c.159G>A;refseq.codonCoord_10=53;refseq.codonCoord_11=53;refseq.end_1=140338707;refseq.end_10=140201249;refseq.end_11=140201249;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=2;refseq.frame_11=2;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=159;refseq.mrnaCoord_11=159;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.G53G;refseq.proteinCoordStr_11=p.G53G;refseq.referenceAA_10=Gly;refseq.referenceAA_11=Gly;refseq.referenceCodon_10=GGG;refseq.referenceCodon_11=GGG;refseq.spliceDist_10=159;refseq.spliceDist_11=159;refseq.start_1=140147672;refseq.start_10=140201249;refseq.start_11=140201249;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Gly;refseq.variantAA_11=Gly;refseq.variantCodon_10=GGA;refseq.variantCodon_11=GGA;set=filterInsoap-gatk GT 1/0 chr5 140201255 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=10.52;MQ=33.09;MQ0=138;OQ=1058.21;QD=3.27;RankSumP=0.00155003;SB=-473.81;SecondBestBaseQ=32;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.165G>T;refseq.codingCoordStr_11=c.165G>T;refseq.codonCoord_10=55;refseq.codonCoord_11=55;refseq.end_1=140338707;refseq.end_10=140201255;refseq.end_11=140201255;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=2;refseq.frame_11=2;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=165;refseq.mrnaCoord_11=165;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.E55D;refseq.proteinCoordStr_11=p.E55D;refseq.referenceAA_10=Glu;refseq.referenceAA_11=Glu;refseq.referenceCodon_10=GAG;refseq.referenceCodon_11=GAG;refseq.spliceDist_10=165;refseq.spliceDist_11=165;refseq.start_1=140147672;refseq.start_10=140201255;refseq.start_11=140201255;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Asp;refseq.variantAA_11=Asp;refseq.variantCodon_10=GAT;refseq.variantCodon_11=GAT;set=filterInsoap-gatk GT 0/1 chr5 140201323 . G A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=682;Dels=0.00;HRun=2;HaplotypeScore=9.70;MQ=26.61;MQ0=537;OQ=4460.84;QD=6.54;RankSumP=1.00000;SB=-1018.84;SecondBestBaseQ=5;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.233G>A;refseq.codingCoordStr_11=c.233G>A;refseq.codonCoord_10=78;refseq.codonCoord_11=78;refseq.end_1=140338707;refseq.end_10=140201323;refseq.end_11=140201323;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=1;refseq.frame_11=1;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=233;refseq.mrnaCoord_11=233;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.S78N;refseq.proteinCoordStr_11=p.S78N;refseq.referenceAA_10=Ser;refseq.referenceAA_11=Ser;refseq.referenceCodon_10=AGT;refseq.referenceCodon_11=AGT;refseq.spliceDist_10=233;refseq.spliceDist_11=233;refseq.start_1=140147672;refseq.start_10=140201323;refseq.start_11=140201323;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Asn;refseq.variantAA_11=Asn;refseq.variantCodon_10=AAT;refseq.variantCodon_11=AAT;set=Intersection GT 1/1 chr5 140201379 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1011;Dels=0.00;HRun=1;HaplotypeScore=25.11;MQ=32.83;MQ0=808;OQ=266.48;QD=0.26;RankSumP=0.123414;SB=-138.88;SecondBestBaseQ=32;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.289G>C;refseq.codingCoordStr_11=c.289G>C;refseq.codonCoord_10=97;refseq.codonCoord_11=97;refseq.end_1=140338707;refseq.end_10=140201379;refseq.end_11=140201379;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=0;refseq.frame_11=0;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=289;refseq.mrnaCoord_11=289;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.G97R;refseq.proteinCoordStr_11=p.G97R;refseq.referenceAA_10=Gly;refseq.referenceAA_11=Gly;refseq.referenceCodon_10=GGG;refseq.referenceCodon_11=GGG;refseq.spliceDist_10=289;refseq.spliceDist_11=289;refseq.start_1=140147672;refseq.start_10=140201379;refseq.start_11=140201379;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Arg;refseq.variantAA_11=Arg;refseq.variantCodon_10=CGG;refseq.variantCodon_11=CGG;set=Intersection GT 0/1 chr5 140202341 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=582;Dels=0.00;HRun=0;HaplotypeScore=37.96;MQ=52.81;MQ0=332;OQ=7492.50;QD=12.87;RankSumP=1.00000;SB=-1334.22;SecondBestBaseQ=6;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.1251A>C;refseq.codingCoordStr_11=c.1251A>C;refseq.codonCoord_10=417;refseq.codonCoord_11=417;refseq.end_1=140338707;refseq.end_10=140202341;refseq.end_11=140202341;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=2;refseq.frame_11=2;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=1251;refseq.mrnaCoord_11=1251;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.R417S;refseq.proteinCoordStr_11=p.R417S;refseq.referenceAA_10=Arg;refseq.referenceAA_11=Arg;refseq.referenceCodon_10=AGA;refseq.referenceCodon_11=AGA;refseq.spliceDist_10=-1144;refseq.spliceDist_11=-1195;refseq.start_1=140147672;refseq.start_10=140202341;refseq.start_11=140202341;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Ser;refseq.variantAA_11=Ser;refseq.variantCodon_10=AGC;refseq.variantCodon_11=AGC;set=Intersection GT 1/1 chr5 140202825 . A G 81.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=92.97;MQ0=1;OQ=2249.69;QD=29.60;RankSumP=1.00000;SB=-858.95;SecondBestBaseQ=0;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_10=c.1735A>G;refseq.codingCoordStr_11=c.1735A>G;refseq.codonCoord_10=579;refseq.codonCoord_11=579;refseq.end_1=140338707;refseq.end_10=140202825;refseq.end_11=140202825;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_10=0;refseq.frame_11=0;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_10=1735;refseq.mrnaCoord_11=1735;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA8;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031856;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_10=p.K579E;refseq.proteinCoordStr_11=p.K579E;refseq.referenceAA_10=Lys;refseq.referenceAA_11=Lys;refseq.referenceCodon_10=AAG;refseq.referenceCodon_11=AAG;refseq.spliceDist_10=-660;refseq.spliceDist_11=-711;refseq.start_1=140147672;refseq.start_10=140202825;refseq.start_11=140202825;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_10=Glu;refseq.variantAA_11=Glu;refseq.variantCodon_10=GAG;refseq.variantCodon_11=GAG;set=Intersection GT 1/1 chr5 140209759 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_11=c.1495T>G;refseq.codingCoordStr_12=c.1495T>G;refseq.codonCoord_11=499;refseq.codonCoord_12=499;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140209759;refseq.end_12=140209759;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_11=0;refseq.frame_12=0;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_12=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_11=2219;refseq.mrnaCoord_12=2219;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA9;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_014005;refseq.name_12=NM_031857;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=12;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_11=p.L499V;refseq.proteinCoordStr_12=p.L499V;refseq.referenceAA_11=Leu;refseq.referenceAA_12=Leu;refseq.referenceCodon_11=TTG;refseq.referenceCodon_12=TTG;refseq.spliceDist_11=2219;refseq.spliceDist_12=-900;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140209759;refseq.start_12=140209759;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_11=Val;refseq.variantAA_12=Val;refseq.variantCodon_11=GTG;refseq.variantCodon_12=GTG;set=FilteredInAll GT 1/0 chr5 140242251 . G C 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=543;Dels=0.00;HRun=1;HaplotypeScore=16.97;MQ=32.39;MQ0=369;OQ=104.12;QD=0.19;RankSumP=0.351394;SB=101.37;SecondBestBaseQ=30;refseq.changesAA_16=true;refseq.changesAA_17=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_16=c.214G>C;refseq.codingCoordStr_17=c.214G>C;refseq.codonCoord_16=72;refseq.codonCoord_17=72;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140242251;refseq.end_17=140242251;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_16=0;refseq.frame_17=0;refseq.functionalClass_16=missense;refseq.functionalClass_17=missense;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=G;refseq.haplotypeReference_17=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_16=214;refseq.mrnaCoord_17=214;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHA13;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_031865;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=17;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_16=p.G72R;refseq.proteinCoordStr_17=p.G72R;refseq.referenceAA_16=Gly;refseq.referenceAA_17=Gly;refseq.referenceCodon_16=GGG;refseq.referenceCodon_17=GGG;refseq.spliceDist_16=214;refseq.spliceDist_17=214;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140242251;refseq.start_17=140242251;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_16=Arg;refseq.variantAA_17=Arg;refseq.variantCodon_16=CGG;refseq.variantCodon_17=CGG;set=soap-filterIngatk GT 0/1 chr5 140242325 . T C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.192036;SecondBestBaseQ=30;refseq.changesAA_16=false;refseq.changesAA_17=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_16=c.288T>C;refseq.codingCoordStr_17=c.288T>C;refseq.codonCoord_16=96;refseq.codonCoord_17=96;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140242325;refseq.end_17=140242325;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_16=2;refseq.frame_17=2;refseq.functionalClass_16=silent;refseq.functionalClass_17=silent;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=T;refseq.haplotypeReference_17=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_16=288;refseq.mrnaCoord_17=288;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHA13;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_031865;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=17;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_16=p.C96C;refseq.proteinCoordStr_17=p.C96C;refseq.referenceAA_16=Cys;refseq.referenceAA_17=Cys;refseq.referenceCodon_16=TGT;refseq.referenceCodon_17=TGT;refseq.spliceDist_16=288;refseq.spliceDist_17=288;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140242325;refseq.start_17=140242325;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_16=Cys;refseq.variantAA_17=Cys;refseq.variantCodon_16=TGC;refseq.variantCodon_17=TGC;set=soap GT 1/0 chr5 140287468 . G A 337.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.42;MQ0=0;OQ=6797.42;QD=40.22;RankSumP=1.00000;SB=-3385.94;SecondBestBaseQ=0;refseq.changesAA_17=false;refseq.changesAA_18=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_17=c.807G>A;refseq.codingCoordStr_18=c.807G>A;refseq.codonCoord_17=269;refseq.codonCoord_18=269;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140287468;refseq.end_18=140287468;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_17=2;refseq.frame_18=2;refseq.functionalClass_17=silent;refseq.functionalClass_18=silent;refseq.haplotypeAlternate_17=A;refseq.haplotypeAlternate_18=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=G;refseq.haplotypeReference_18=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_17=983;refseq.mrnaCoord_18=983;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_031882;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=18;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_17=p.Q269Q;refseq.proteinCoordStr_18=p.Q269Q;refseq.referenceAA_17=Gln;refseq.referenceAA_18=Gln;refseq.referenceCodon_17=CAG;refseq.referenceCodon_18=CAG;refseq.spliceDist_17=983;refseq.spliceDist_18=983;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140287468;refseq.start_18=140287468;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_17=Gln;refseq.variantAA_18=Gln;refseq.variantCodon_17=CAA;refseq.variantCodon_18=CAA;set=Intersection GT 1/1 chr5 140287930 . C G 89.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=18.37;MQ=98.55;MQ0=0;OQ=10948.73;QD=39.67;RankSumP=1.00000;SB=-5348.32;SecondBestBaseQ=33;refseq.changesAA_17=false;refseq.changesAA_18=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_17=c.1269C>G;refseq.codingCoordStr_18=c.1269C>G;refseq.codonCoord_17=423;refseq.codonCoord_18=423;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140287930;refseq.end_18=140287930;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_17=2;refseq.frame_18=2;refseq.functionalClass_17=silent;refseq.functionalClass_18=silent;refseq.haplotypeAlternate_17=G;refseq.haplotypeAlternate_18=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=C;refseq.haplotypeReference_18=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_17=1445;refseq.mrnaCoord_18=1445;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_031882;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=18;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_17=p.P423P;refseq.proteinCoordStr_18=p.P423P;refseq.referenceAA_17=Pro;refseq.referenceAA_18=Pro;refseq.referenceCodon_17=CCC;refseq.referenceCodon_18=CCC;refseq.spliceDist_17=-1165;refseq.spliceDist_18=1445;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140287930;refseq.start_18=140287930;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_17=Pro;refseq.variantAA_18=Pro;refseq.variantCodon_17=CCG;refseq.variantCodon_18=CCG;set=Intersection GT 1/1 chr5 140288153 . C G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.86;MQ0=0;OQ=16165.16;QD=46.45;RankSumP=1.00000;SB=-7597.71;SecondBestBaseQ=2;refseq.changesAA_17=true;refseq.changesAA_18=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_17=c.1492C>G;refseq.codingCoordStr_18=c.1492C>G;refseq.codonCoord_17=498;refseq.codonCoord_18=498;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140288153;refseq.end_18=140288153;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_17=0;refseq.frame_18=0;refseq.functionalClass_17=missense;refseq.functionalClass_18=missense;refseq.haplotypeAlternate_17=G;refseq.haplotypeAlternate_18=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=C;refseq.haplotypeReference_18=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_17=1668;refseq.mrnaCoord_18=1668;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC1;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_031882;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=18;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_17=p.L498V;refseq.proteinCoordStr_18=p.L498V;refseq.referenceAA_17=Leu;refseq.referenceAA_18=Leu;refseq.referenceCodon_17=CTG;refseq.referenceCodon_18=CTG;refseq.spliceDist_17=-942;refseq.spliceDist_18=-1417;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140288153;refseq.start_18=140288153;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_17=Val;refseq.variantAA_18=Val;refseq.variantCodon_17=GTG;refseq.variantCodon_18=GTG;set=Intersection GT 1/1 chr5 140326652 . T A 91.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.45;MQ0=0;OQ=359.81;QD=32.71;RankSumP=1.00000;SB=-85.78;SecondBestBaseQ=0;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_18=c.117T>A;refseq.codingCoordStr_19=c.117T>A;refseq.codonCoord_18=39;refseq.codonCoord_19=39;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140338707;refseq.end_18=140326652;refseq.end_19=140326652;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_18=2;refseq.frame_19=2;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.haplotypeAlternate_18=A;refseq.haplotypeAlternate_19=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=T;refseq.haplotypeReference_19=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_18=722;refseq.mrnaCoord_19=117;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC2;refseq.name2_19=PCDHAC2;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_018899;refseq.name_19=NM_031883;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=19;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_18=p.P39P;refseq.proteinCoordStr_19=p.P39P;refseq.referenceAA_18=Pro;refseq.referenceAA_19=Pro;refseq.referenceCodon_18=CCT;refseq.referenceCodon_19=CCT;refseq.spliceDist_18=722;refseq.spliceDist_19=117;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140289105;refseq.start_18=140326652;refseq.start_19=140326652;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_18=Pro;refseq.variantAA_19=Pro;refseq.variantCodon_18=CCA;refseq.variantCodon_19=CCA;set=Intersection GT 1/1 chr5 140326896 . T C 184.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=5.23;MQ=98.39;MQ0=0;OQ=4155.61;QD=36.78;RankSumP=1.00000;SB=-1550.97;SecondBestBaseQ=9;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_18=c.361T>C;refseq.codingCoordStr_19=c.361T>C;refseq.codonCoord_18=121;refseq.codonCoord_19=121;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140338707;refseq.end_18=140326896;refseq.end_19=140326896;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_18=0;refseq.frame_19=0;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.haplotypeAlternate_18=C;refseq.haplotypeAlternate_19=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=T;refseq.haplotypeReference_19=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_18=966;refseq.mrnaCoord_19=361;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC2;refseq.name2_19=PCDHAC2;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_018899;refseq.name_19=NM_031883;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=19;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_18=p.L121L;refseq.proteinCoordStr_19=p.L121L;refseq.referenceAA_18=Leu;refseq.referenceAA_19=Leu;refseq.referenceCodon_18=TTG;refseq.referenceCodon_19=TTG;refseq.spliceDist_18=966;refseq.spliceDist_19=361;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140289105;refseq.start_18=140326896;refseq.start_19=140326896;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_18=Leu;refseq.variantAA_19=Leu;refseq.variantCodon_18=CTG;refseq.variantCodon_19=CTG;set=Intersection GT 1/1 chr5 140327237 . C T 346.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=4.76;MQ=98.91;MQ0=0;OQ=12865.06;QD=39.71;RankSumP=1.00000;SB=-3609.13;SecondBestBaseQ=2;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_18=c.702C>T;refseq.codingCoordStr_19=c.702C>T;refseq.codonCoord_18=234;refseq.codonCoord_19=234;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140338707;refseq.end_18=140327237;refseq.end_19=140327237;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_18=2;refseq.frame_19=2;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.haplotypeAlternate_18=T;refseq.haplotypeAlternate_19=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=C;refseq.haplotypeReference_19=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_18=1307;refseq.mrnaCoord_19=702;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC2;refseq.name2_19=PCDHAC2;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_018899;refseq.name_19=NM_031883;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=19;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_18=p.I234I;refseq.proteinCoordStr_19=p.I234I;refseq.referenceAA_18=Ile;refseq.referenceAA_19=Ile;refseq.referenceCodon_18=ATC;refseq.referenceCodon_19=ATC;refseq.spliceDist_18=1307;refseq.spliceDist_19=702;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140289105;refseq.start_18=140327237;refseq.start_19=140327237;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_18=Ile;refseq.variantAA_19=Ile;refseq.variantCodon_18=ATT;refseq.variantCodon_19=ATT;set=Intersection GT 1/1 chr5 140327576 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_18=c.1041T>G;refseq.codingCoordStr_19=c.1041T>G;refseq.codonCoord_18=347;refseq.codonCoord_19=347;refseq.end_1=140338707;refseq.end_10=140338707;refseq.end_11=140338707;refseq.end_12=140338707;refseq.end_13=140338707;refseq.end_14=140338707;refseq.end_15=140338707;refseq.end_16=140338707;refseq.end_17=140338707;refseq.end_18=140327576;refseq.end_19=140327576;refseq.end_2=140338707;refseq.end_3=140338707;refseq.end_4=140338707;refseq.end_5=140338707;refseq.end_6=140338707;refseq.end_7=140338707;refseq.end_8=140338707;refseq.end_9=140338707;refseq.frame_18=2;refseq.frame_19=2;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.haplotypeAlternate_18=G;refseq.haplotypeAlternate_19=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=T;refseq.haplotypeReference_19=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_18=1646;refseq.mrnaCoord_19=1041;refseq.name2_1=PCDHA1;refseq.name2_10=PCDHA8;refseq.name2_11=PCDHA9;refseq.name2_12=PCDHA10;refseq.name2_13=PCDHA10;refseq.name2_14=PCDHA11;refseq.name2_15=PCDHA12;refseq.name2_16=PCDHA13;refseq.name2_17=PCDHAC1;refseq.name2_18=PCDHAC2;refseq.name2_19=PCDHAC2;refseq.name2_2=PCDHA1;refseq.name2_3=PCDHA2;refseq.name2_4=PCDHA3;refseq.name2_5=PCDHA4;refseq.name2_6=PCDHA5;refseq.name2_7=PCDHA6;refseq.name2_8=PCDHA6;refseq.name2_9=PCDHA7;refseq.name_1=NM_031411;refseq.name_10=NM_018911;refseq.name_11=NM_031857;refseq.name_12=NM_031860;refseq.name_13=NM_018901;refseq.name_14=NM_018902;refseq.name_15=NM_018903;refseq.name_16=NM_018904;refseq.name_17=NM_018898;refseq.name_18=NM_018899;refseq.name_19=NM_031883;refseq.name_2=NM_018900;refseq.name_3=NM_018905;refseq.name_4=NM_018906;refseq.name_5=NM_018907;refseq.name_6=NM_018908;refseq.name_7=NM_031849;refseq.name_8=NM_018909;refseq.name_9=NM_018910;refseq.numMatchingRecords=19;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_18=p.G347G;refseq.proteinCoordStr_19=p.G347G;refseq.referenceAA_18=Gly;refseq.referenceAA_19=Gly;refseq.referenceCodon_18=GGT;refseq.referenceCodon_19=GGT;refseq.spliceDist_18=-1525;refseq.spliceDist_19=1041;refseq.start_1=140147672;refseq.start_10=140203495;refseq.start_11=140210669;refseq.start_12=140217427;refseq.start_13=140218216;refseq.start_14=140231274;refseq.start_15=140237619;refseq.start_16=140244442;refseq.start_17=140289105;refseq.start_18=140327576;refseq.start_19=140327576;refseq.start_2=140148464;refseq.start_3=140157132;refseq.start_4=140163371;refseq.start_5=140169352;refseq.start_6=140183907;refseq.start_7=140189473;refseq.start_8=140190265;refseq.start_9=140196518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_18=Gly;refseq.variantAA_19=Gly;refseq.variantCodon_18=GGG;refseq.variantCodon_19=GGG;set=FilteredInAll GT 1/0 chr5 140454865 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00263863;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.307C>A;refseq.codonCoord=103;refseq.end=140454865;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=445;refseq.start=140454865;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 140455900 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1170;Dels=0.00;HRun=1;HaplotypeScore=30.75;MQ=36.69;MQ0=504;OQ=1599.01;QD=1.37;RankSumP=0.158925;SB=-42.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1342G>A;refseq.codonCoord=448;refseq.end=140455900;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D448N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-1249;refseq.start=140455900;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/0 chr5 140455980 rs17844523 C T 22.40 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=917;Dels=0.00;HRun=0;HaplotypeScore=62.47;MQ=24.27;MQ0=804;QD=0.02;SB=137.44;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1422C>T;refseq.codonCoord=474;refseq.end=140455980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1560;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S474S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1169;refseq.start=140455980;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:899,14:73:-27.51,-21.99,-241.48:55.21 chr5 140455984 . A C 153.18 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=877;Dels=0.00;HRun=1;HaplotypeScore=87.62;MQ=24.92;MQ0=763;QD=0.17;SB=131.46;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1426A>C;refseq.codonCoord=476;refseq.end=140455984;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1564;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S476R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1165;refseq.start=140455984;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:840,31:73:-40.59,-21.98,-247.68:99 chr5 140455989 rs17839736 C A 117.39 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=823;Dels=0.00;HRun=1;HaplotypeScore=37.33;MQ=24.72;MQ0=712;QD=0.14;SB=116.40;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1431C>A;refseq.codonCoord=477;refseq.end=140455989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1569;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A477A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1160;refseq.start=140455989;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:799,24:68:-35.50,-20.48,-227.75:99 chr5 140456046 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.334470;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1488G>A;refseq.codonCoord=496;refseq.end=140456046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1626;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q496Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1103;refseq.start=140456046;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr5 140456065 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=608;Dels=0.00;HRun=0;HaplotypeScore=26.49;MQ=49.19;MQ0=176;OQ=1817.70;QD=2.99;RankSumP=0.486190;SB=-857.65;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1507G>A;refseq.codonCoord=503;refseq.end=140456065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A503T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1084;refseq.start=140456065;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr5 140456088 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=581;Dels=0.00;HRun=0;HaplotypeScore=23.41;MQ=52.76;MQ0=44;OQ=2783.49;QD=4.79;RankSumP=0.300722;SB=-802.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1530G>A;refseq.codonCoord=510;refseq.end=140456088;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1668;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A510A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1061;refseq.start=140456088;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr5 140456142 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=303;Dels=0.00;HRun=2;HaplotypeScore=10.74;MQ=47.45;MQ0=56;OQ=131.78;QD=0.43;RankSumP=0.0883910;SB=128.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1584G>T;refseq.codonCoord=528;refseq.end=140456142;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1722;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A528A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1007;refseq.start=140456142;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr5 140456164 . G A 179.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=7.18;MQ=38.24;MQ0=73;OQ=2928.18;QD=14.86;RankSumP=1.00000;SB=-571.31;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1606G>A;refseq.codonCoord=536;refseq.end=140456164;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1744;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A536T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-985;refseq.start=140456164;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 140456486 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1928T>G;refseq.codonCoord=643;refseq.end=140456486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2066;refseq.name=NM_018936;refseq.name2=PCDHB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V643G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-663;refseq.start=140456486;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 140461517 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1100T>G;refseq.codonCoord=367;refseq.end=140461517;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_018937;refseq.name2=PCDHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V367G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=1100;refseq.start=140461517;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 140462426 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140462426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_018937;refseq.name2=PCDHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1165;refseq.start=140462426;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140462667 . G A 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=1;HaplotypeScore=22.36;MQ=22.56;MQ0=379;OQ=1196.74;QD=2.91;RankSumP=1.00000;SB=-286.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2250G>A;refseq.codonCoord=750;refseq.end=140462667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2250;refseq.name=NM_018937;refseq.name2=PCDHB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q750Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-924;refseq.start=140462667;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr5 140482361 . G A 413.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.96;MQ0=0;OQ=10560.75;QD=41.58;RankSumP=1.00000;SB=-3202.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.597G>A;refseq.codonCoord=199;refseq.end=140482361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=597;refseq.name=NM_018938;refseq.name2=PCDHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L199L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=597;refseq.start=140482361;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr5 140483181 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=824;Dels=0.00;HRun=1;HaplotypeScore=30.53;MQ=24.58;MQ0=667;OQ=264.14;QD=0.32;RankSumP=0.124369;SB=-103.64;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1417A>C;refseq.codonCoord=473;refseq.end=140483181;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1417;refseq.name=NM_018938;refseq.name2=PCDHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S473R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1417;refseq.start=140483181;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 0/1 chr5 140483186 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=786;Dels=0.00;HRun=1;HaplotypeScore=24.24;MQ=23.62;MQ0=634;OQ=349.98;QD=0.45;RankSumP=0.00473210;SB=-102.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1422C>A;refseq.codonCoord=474;refseq.end=140483186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_018938;refseq.name2=PCDHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A474A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1422;refseq.start=140483186;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr5 140483262 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=632;Dels=0.00;HRun=0;HaplotypeScore=24.94;MQ=16.44;MQ0=528;OQ=109.79;QD=0.17;SB=-2.52;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1498G>A;refseq.codonCoord=500;refseq.end=140483262;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_018938;refseq.name2=PCDHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A500T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1498;refseq.start=140483262;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:541,77:34:-24.51,-10.25,-100.00:99 chr5 140496979 . C T 27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=16.64;MQ=21.37;MQ0=200;OQ=1104.55;QD=4.70;RankSumP=1.00000;SB=-512.02;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1779C>T;refseq.codonCoord=593;refseq.end=140496979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1996;refseq.name=NM_015669;refseq.name2=PCDHB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G593G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-910;refseq.start=140496979;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr5 140497206 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2006A>C;refseq.codonCoord=669;refseq.end=140497206;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2223;refseq.name=NM_015669;refseq.name2=PCDHB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y669S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-683;refseq.start=140497206;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140497358 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=440;Dels=0.00;HRun=2;HaplotypeScore=23.82;MQ=54.29;MQ0=56;OQ=10226.68;QD=23.24;RankSumP=1.00000;SB=-4079.31;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2158T>C;refseq.codonCoord=720;refseq.end=140497358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2375;refseq.name=NM_015669;refseq.name2=PCDHB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S720P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-531;refseq.start=140497358;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 140510713 . G A 428.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=3420.73;QD=39.78;RankSumP=1.00000;SB=-1559.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.691G>A;refseq.codonCoord=231;refseq.end=140510713;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V231I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=691;refseq.start=140510713;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr5 140511359 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=619;Dels=0.00;HRun=4;HaplotypeScore=14.38;MQ=57.28;MQ0=318;OQ=9270.53;QD=14.98;RankSumP=1.00000;SB=-3858.89;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1337T>C;refseq.codonCoord=446;refseq.end=140511359;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V446A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1337;refseq.start=140511359;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/1 chr5 140511776 . C T 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=20.04;MQ=20.45;MQ0=280;OQ=707.98;QD=2.30;RankSumP=0.678571;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1754C>T;refseq.codonCoord=585;refseq.end=140511776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1754;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T585I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1277;refseq.start=140511776;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 140511930 . C G 362.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=8.31;MQ=33.34;MQ0=49;OQ=3590.13;QD=20.40;RankSumP=1.00000;SB=-1096.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1908C>G;refseq.codonCoord=636;refseq.end=140511930;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1908;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H636Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1123;refseq.start=140511930;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 140512025 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2003A>C;refseq.codonCoord=668;refseq.end=140512025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y668S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1028;refseq.start=140512025;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140512065 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=495;Dels=0.00;HRun=0;HaplotypeScore=30.84;MQ=34.28;MQ0=54;OQ=6317.21;QD=12.76;RankSumP=0.00656591;SB=-2556.18;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2043C>T;refseq.codonCoord=681;refseq.end=140512065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2043;refseq.name=NM_018939;refseq.name2=PCDHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A681A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-988;refseq.start=140512065;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 0/1 chr5 140533700 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.12809e-07;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1100T>G;refseq.codonCoord=367;refseq.end=140533700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V367G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=1274;refseq.start=140533700;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr5 140533765 . G C 185.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.68;MQ0=0;OQ=9909.96;QD=48.11;RankSumP=1.00000;SB=-4194.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1165G>C;refseq.codonCoord=389;refseq.end=140533765;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1339;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V389L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1339;refseq.start=140533765;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr5 140533936 . G A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.492197;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1336G>A;refseq.codonCoord=446;refseq.end=140533936;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D446N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1510;refseq.start=140533936;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr5 140533944 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.0256308;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1344T>C;refseq.codonCoord=448;refseq.end=140533944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A448A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1518;refseq.start=140533944;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr5 140534040 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=551;Dels=0.00;HRun=0;HaplotypeScore=26.62;MQ=67.37;MQ0=49;OQ=15043.58;QD=27.30;RankSumP=1.00000;SB=-5675.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1440G>A;refseq.codonCoord=480;refseq.end=140534040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1614;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S480S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1614;refseq.start=140534040;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr5 140534190 . C G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=12.81;MQ=50.81;MQ0=8;OQ=8648.62;QD=38.61;RankSumP=1.00000;SB=-1861.45;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1590C>G;refseq.codonCoord=530;refseq.end=140534190;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1764;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R530R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=1764;refseq.start=140534190;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 140534373 . G C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=268;Dels=0.00;HRun=1;HaplotypeScore=12.21;MQ=40.97;MQ0=180;OQ=2478.39;QD=9.25;RankSumP=1.00000;SB=-856.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1773G>C;refseq.codonCoord=591;refseq.end=140534373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1947;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A591A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1769;refseq.start=140534373;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr5 140534665 . G T 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=21.11;MQ=75.47;MQ0=49;OQ=5859.09;QD=24.41;RankSumP=1.00000;SB=-2438.62;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2065G>T;refseq.codonCoord=689;refseq.end=140534665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2239;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V689L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1477;refseq.start=140534665;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr5 140534790 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=274;Dels=0.00;HRun=2;HaplotypeScore=16.20;MQ=89.39;MQ0=2;OQ=10184.65;QD=37.17;RankSumP=1.00000;SB=-4112.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2190T>C;refseq.codonCoord=730;refseq.end=140534790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2364;refseq.name=NM_018940;refseq.name2=PCDHB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F730F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-1352;refseq.start=140534790;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr5 140538492 . T C 302.31 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=83.90;MQ0=2;QD=10.08;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.693T>C;refseq.codonCoord=231;refseq.end=140538492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I231I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=879;refseq.start=140538492;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/1 chr5 140538498 rs17844487 T C 566.18 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=82.90;MQ0=3;QD=13.48;SB=-170.85;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.699T>C;refseq.codonCoord=233;refseq.end=140538498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V233V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=885;refseq.start=140538498;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,42:16:-60.21,-4.82,-0.00:48.15 chr5 140538499 . G C 1177.72 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=84.72;MQ0=3;QD=23.09;RankSumP=1.00000;SB=-543.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.700G>C;refseq.codonCoord=234;refseq.end=140538499;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V234L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=886;refseq.start=140538499;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/1 chr5 140538501 . C G 2437.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=88.43;MQ0=3;QD=30.86;RankSumP=1.00000;SB=-915.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.702C>G;refseq.codonCoord=234;refseq.end=140538501;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V234V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=888;refseq.start=140538501;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/1 chr5 140538510 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=21.46;MQ=91.92;MQ0=2;OQ=6130.78;QD=31.77;RankSumP=1.00000;SB=-2696.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.711T>C;refseq.codonCoord=237;refseq.end=140538510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N237N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=897;refseq.start=140538510;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr5 140538970 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=231;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=85.57;MQ0=0;OQ=243.84;QD=1.06;RankSumP=0.361142;SB=-95.21;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1171C>T;refseq.codonCoord=391;refseq.end=140538970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1357;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P391S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1236;refseq.start=140538970;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 0/1 chr5 140539504 . G A 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=11.94;MQ=19.73;MQ0=161;OQ=252.10;QD=1.29;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1705G>A;refseq.codonCoord=569;refseq.end=140539504;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1891;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G569S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-702;refseq.start=140539504;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 140539716 . G C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=10.64;MQ=36.95;MQ0=69;OQ=1255.68;QD=11.74;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1917G>C;refseq.codonCoord=639;refseq.end=140539716;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2103;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q639H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-490;refseq.start=140539716;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr5 140539780 . T G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=16.51;MQ=68.26;MQ0=19;OQ=2617.30;QD=17.00;RankSumP=1.00000;SB=-61.08;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1981T>G;refseq.codonCoord=661;refseq.end=140539780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2167;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L661V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-426;refseq.start=140539780;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 140539811 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2012A>C;refseq.codonCoord=671;refseq.end=140539811;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2198;refseq.name=NM_019120;refseq.name2=PCDHB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y671S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-395;refseq.start=140539811;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140542923 . G A 184.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=10.10;MQ=98.65;MQ0=0;OQ=10580.22;QD=40.38;RankSumP=1.00000;SB=-4199.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.605G>A;refseq.codonCoord=202;refseq.end=140542923;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1760;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R202Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1760;refseq.start=140542923;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 140543763 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=561;Dels=0.00;HRun=0;HaplotypeScore=48.86;MQ=50.08;MQ0=307;OQ=7464.14;QD=13.31;RankSumP=1.00000;SB=-1931.54;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1445C>T;refseq.codonCoord=482;refseq.end=140543763;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2600;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T482I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-2218;refseq.start=140543763;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr5 140544115 . T C 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=47.39;MQ0=17;OQ=301.70;QD=10.06;RankSumP=1.00000;SB=-164.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1797T>C;refseq.codonCoord=599;refseq.end=140544115;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2952;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.N599N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1866;refseq.start=140544115;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/1 chr5 140544217 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.336691;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1899C>A;refseq.codonCoord=633;refseq.end=140544217;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3054;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R633R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1764;refseq.start=140544217;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chr5 140544232 . G C 66.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=40.75;MQ0=72;OQ=1417.84;QD=12.12;RankSumP=0.00101406;SB=-350.46;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1914G>C;refseq.codonCoord=638;refseq.end=140544232;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3069;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q638H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1749;refseq.start=140544232;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 0/1 chr5 140544272 . C T 16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=27.53;MQ=54.79;MQ0=73;OQ=1885.86;QD=13.19;RankSumP=1.00000;SB=-51.67;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1954C>T;refseq.codonCoord=652;refseq.end=140544272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3109;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R652C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1709;refseq.start=140544272;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=filterInsoap-gatk GT 1/1 chr5 140544327 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009T>C;refseq.codonCoord=670;refseq.end=140544327;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3164;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.F670S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-1654;refseq.start=140544327;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr5 140544447 . C T 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=22.01;MQ=73.13;MQ0=87;OQ=9468.76;QD=24.66;RankSumP=1.00000;SB=-4345.99;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2129C>T;refseq.codonCoord=710;refseq.end=140544447;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3284;refseq.name=NM_020957;refseq.name2=PCDHB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A710V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1534;refseq.start=140544447;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 140552852 . C T 298.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.70;MQ0=0;OQ=3961.48;QD=40.42;RankSumP=1.00000;SB=-962.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.543C>T;refseq.codonCoord=181;refseq.end=140552852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N181N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=717;refseq.start=140552852;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr5 140553623 . G C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=27.26;MQ=73.78;MQ0=79;OQ=6784.67;QD=26.50;RankSumP=1.00000;SB=-1691.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1314G>C;refseq.codonCoord=438;refseq.end=140553623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1488;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T438T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1488;refseq.start=140553623;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr5 140553626 . C G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=13.76;MQ=71.00;MQ0=83;OQ=6365.09;QD=26.52;RankSumP=1.00000;SB=-1394.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1317C>G;refseq.codonCoord=439;refseq.end=140553626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1491;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V439V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1491;refseq.start=140553626;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 140553645 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=354;Dels=0.00;HRun=1;HaplotypeScore=17.73;MQ=49.70;MQ0=247;OQ=1506.68;QD=4.26;RankSumP=0.00124326;SB=-169.23;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1336G>A;refseq.codonCoord=446;refseq.end=140553645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.D446N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1510;refseq.start=140553645;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/0 chr5 140553938 . A C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=20.85;MQ0=101;OQ=633.78;QD=4.80;RankSumP=1.00000;SB=-51.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1629A>C;refseq.codonCoord=543;refseq.end=140553938;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1803;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R543S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1460;refseq.start=140553938;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 140554287 rs17844596 T G 20.93 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.11;MQ0=2;QD=5.23;SB=-10.00;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1978T>G;refseq.codonCoord=660;refseq.end=140554287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2152;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L660V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-1111;refseq.start=140554287;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,3:2:-5.50,-0.60,-0.00:6 chr5 140554359 . G C 10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=61.12;MQ0=2;OQ=136.53;QD=22.75;RankSumP=0.507937;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2050G>C;refseq.codonCoord=684;refseq.end=140554359;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2224;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E684Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-1039;refseq.start=140554359;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 0/1 chr5 140554422 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.392169;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2113C>T;refseq.codonCoord=705;refseq.end=140554422;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2287;refseq.name=NM_018930;refseq.name2=PCDHB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L705F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-976;refseq.start=140554422;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr5 140561115 . C G 109.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=17.32;MQ=48.61;MQ0=125;OQ=7636.13;QD=21.82;RankSumP=1.00000;SB=-1333.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1584C>G;refseq.codonCoord=528;refseq.end=140561115;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1584;refseq.name=NM_018931;refseq.name2=PCDHB11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D528E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1584;refseq.start=140561115;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 140561313 rs17839738 C T 11.18 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=28.21;MQ=1.49;MQ0=280;QD=0.04;SB=-10.00;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1782C>T;refseq.codonCoord=594;refseq.end=140561313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1782;refseq.name=NM_018931;refseq.name2=PCDHB11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G594G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1490;refseq.start=140561313;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:257,13:1:-4.37,-0.30,-0.00:1.76 chr5 140561404 . C A 18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=13.02;MQ=15.10;MQ0=256;OQ=363.39;QD=1.35;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1873C>A;refseq.codonCoord=625;refseq.end=140561404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1873;refseq.name=NM_018931;refseq.name2=PCDHB11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R625S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-1399;refseq.start=140561404;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/1 chr5 140561540 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140561540;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_018931;refseq.name2=PCDHB11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1263;refseq.start=140561540;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140561694 . G T 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=493;Dels=0.00;HRun=0;HaplotypeScore=65.88;MQ=81.22;MQ0=61;OQ=10705.55;QD=21.72;RankSumP=1.00000;SB=-3308.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2163G>T;refseq.codonCoord=721;refseq.end=140561694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2163;refseq.name=NM_018931;refseq.name2=PCDHB11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S721S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1109;refseq.start=140561694;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 1/1 chr5 140570672 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=4.10465e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140570672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2198;refseq.name=NM_018932;refseq.name2=PCDHB12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1211;refseq.start=140570672;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140574626 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1213;Dels=0.00;HRun=1;HaplotypeScore=30.93;MQ=95.32;MQ0=1;OQ=13530.14;QD=11.15;RankSumP=0.0714760;SB=-4301.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.747A>G;refseq.codonCoord=249;refseq.end=140574626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R249R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=934;refseq.start=140574626;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr5 140574650 rs17844608 G A 1999.50 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=948;Dels=0.00;HRun=0;HaplotypeScore=43.38;MQ=93.78;MQ0=25;QD=2.11;SB=-83.79;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.771G>A;refseq.codonCoord=257;refseq.end=140574650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=958;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.P257P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=958;refseq.start=140574650;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:830,117:897:-473.37,-270.13,-3063.31:99 chr5 140574651 rs17844609 G A 1508.13 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=926;Dels=0.00;HRun=0;HaplotypeScore=39.38;MQ=93.80;MQ0=25;QD=1.63;SB=120.31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.772G>A;refseq.codonCoord=258;refseq.end=140574651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V258I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=959;refseq.start=140574651;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:819,105:877:-418.16,-264.06,-3214.58:99 chr5 140574654 rs17844610 G A 958.75 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=910;Dels=0.00;HRun=1;HaplotypeScore=41.51;MQ=93.34;MQ0=26;QD=1.05;SB=689.57;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.775G>A;refseq.codonCoord=259;refseq.end=140574654;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G259S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=962;refseq.start=140574654;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:821,86:857:-357.19,-258.03,-3236.21:99 chr5 140574740 . A T 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.466520;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.861A>T;refseq.codonCoord=287;refseq.end=140574740;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1048;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.E287D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1048;refseq.start=140574740;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr5 140575527 . G C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DP=106;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=61.34;MQ0=32;OQ=2301.79;QD=21.72;RankSumP=1.00000;SB=-336.71;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1648G>C;refseq.codonCoord=550;refseq.end=140575527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1835;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V550L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1651;refseq.start=140575527;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 140575888 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=411;Dels=0.00;HRun=2;HaplotypeScore=44.64;MQ=28.30;MQ0=127;OQ=59.54;QD=0.14;RankSumP=0.00000;SB=155.49;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140575888;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2196;refseq.name=NM_018933;refseq.name2=PCDHB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1290;refseq.start=140575888;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140585109 . C T 20.22 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=336;Dels=0.00;HRun=0;HaplotypeScore=29.22;MQ=9.46;MQ0=302;QD=0.06;SB=-0.97;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1848C>T;refseq.codonCoord=616;refseq.end=140585109;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1848;refseq.name=NM_018934;refseq.name2=PCDHB14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G616G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-937;refseq.start=140585109;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:281,44:9:-8.01,-2.71,-27.76:53.02 chr5 140585214 . T G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=13.22;MQ=38.00;MQ0=85;OQ=759.15;QD=6.33;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1953T>G;refseq.codonCoord=651;refseq.end=140585214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1953;refseq.name=NM_018934;refseq.name2=PCDHB14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P651P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-832;refseq.start=140585214;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 140585270 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140585270;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_018934;refseq.name2=PCDHB14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-776;refseq.start=140585270;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140606750 . A C 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=559;Dels=0.00;HRun=1;HaplotypeScore=17.81;MQ=44.05;MQ0=391;OQ=5306.76;QD=9.49;RankSumP=1.00000;SB=-1444.97;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1420A>C;refseq.codonCoord=474;refseq.end=140606750;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S474R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1236;refseq.start=140606750;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr5 140606755 . C A 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=508;Dels=0.00;HRun=1;HaplotypeScore=15.29;MQ=42.49;MQ0=365;OQ=4920.95;QD=9.69;RankSumP=1.00000;SB=-1262.47;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1425C>A;refseq.codonCoord=475;refseq.end=140606755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A475A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1231;refseq.start=140606755;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr5 140606811 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=23.66;MQ=45.57;MQ0=109;OQ=3011.00;QD=11.45;RankSumP=1.00000;SB=-1433.89;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1481G>A;refseq.codonCoord=494;refseq.end=140606811;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1481;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.R494Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-1175;refseq.start=140606811;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr5 140606848 rs61742737 T C 0.13 PASS AC=1;AF=0.50;AN=2;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=10.51;MQ=51.73;MQ0=63;OQ=70.18;QD=0.23;SB=164.07;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1518T>C;refseq.codonCoord=506;refseq.end=140606848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.I506I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-1138;refseq.start=140606848;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=gatk GT:AD:DP:GL:GQ 0/1:249,49:181:-64.83,-54.53,-671.38:99 chr5 140606854 . G A 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=295;Dels=0.00;HRun=0;HaplotypeScore=13.03;MQ=53.43;MQ0=46;OQ=198.36;QD=0.67;RankSumP=0.0743963;SB=183.72;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1524G>A;refseq.codonCoord=508;refseq.end=140606854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T508T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1132;refseq.start=140606854;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr5 140607339 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2009A>C;refseq.codonCoord=670;refseq.end=140607339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_018935;refseq.name2=PCDHB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y670S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-647;refseq.start=140607339;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 140663449 . G A 346.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.39;MQ0=0;OQ=8341.17;QD=40.30;RankSumP=1.00000;SB=-4035.07;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.168C>T;refseq.codonCoord=56;refseq.end=140663449;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_031947;refseq.name2=SLC25A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A56A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=348;refseq.start=140663449;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr5 140690645 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=85;Dels=0.00;HRun=0;HaplotypeScore=7.58;MQ=98.35;MQ0=0;OQ=1557.28;QD=18.32;RankSumP=0.305980;SB=-801.34;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.210T>C;refseq.codingCoordStr_2=c.210T>C;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=140690645;refseq.end_2=140690645;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=210;refseq.mrnaCoord_2=210;refseq.name2_1=PCDHGA1;refseq.name2_2=PCDHGA1;refseq.name_1=NM_018912;refseq.name_2=NM_031993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G70G;refseq.proteinCoordStr_2=p.G70G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=210;refseq.spliceDist_2=210;refseq.start_1=140690645;refseq.start_2=140690645;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr5 140690889 . G A 295.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=3035.47;QD=41.58;RankSumP=1.00000;SB=-1322.03;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.454G>A;refseq.codingCoordStr_2=c.454G>A;refseq.codonCoord_1=152;refseq.codonCoord_2=152;refseq.end_1=140690889;refseq.end_2=140690889;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=454;refseq.mrnaCoord_2=454;refseq.name2_1=PCDHGA1;refseq.name2_2=PCDHGA1;refseq.name_1=NM_018912;refseq.name_2=NM_031993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V152I;refseq.proteinCoordStr_2=p.V152I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=454;refseq.spliceDist_2=454;refseq.start_1=140690889;refseq.start_2=140690889;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr5 140700700 . C G 16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=18.48;MQ=35.32;MQ0=90;OQ=1987.15;QD=11.49;RankSumP=0.126601;SB=-524.57;SecondBestBaseQ=19;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.1978C>G;refseq.codingCoordStr_3=c.1978C>G;refseq.codonCoord_2=660;refseq.codonCoord_3=660;refseq.end_1=140854547;refseq.end_2=140700700;refseq.end_3=140700700;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2163;refseq.mrnaCoord_3=2163;refseq.name2_1=PCDHGA1;refseq.name2_2=PCDHGA2;refseq.name2_3=PCDHGA2;refseq.name_1=NM_018912;refseq.name_2=NM_018915;refseq.name_3=NM_032009;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L660V;refseq.proteinCoordStr_3=p.L660V;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_2=-447;refseq.spliceDist_3=-495;refseq.start_1=140692867;refseq.start_2=140700700;refseq.start_3=140700700;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=filterInsoap-gatk GT 1/0 chr5 140701138 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.97;MQ0=0;OQ=2058.10;QD=20.18;RankSumP=0.336489;SB=-751.96;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.2416T>C;refseq.codingCoordStr_3=c.2416T>C;refseq.codonCoord_2=806;refseq.codonCoord_3=806;refseq.end_1=140854547;refseq.end_2=140701138;refseq.end_3=140701138;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2601;refseq.mrnaCoord_3=2601;refseq.name2_1=PCDHGA1;refseq.name2_2=PCDHGA2;refseq.name2_3=PCDHGA2;refseq.name_1=NM_018912;refseq.name_2=NM_018915;refseq.name_3=NM_032009;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F806L;refseq.proteinCoordStr_3=p.F806L;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_2=-9;refseq.spliceDist_3=-57;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=140692867;refseq.start_2=140701138;refseq.start_3=140701138;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/0 chr5 140836718 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_20=chr5;refseq.chr_21=chr5;refseq.chr_22=chr5;refseq.chr_23=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_22=c.851G>C;refseq.codingCoordStr_23=c.851G>C;refseq.codonCoord_22=284;refseq.codonCoord_23=284;refseq.end_1=140854547;refseq.end_10=140854547;refseq.end_11=140854547;refseq.end_12=140854547;refseq.end_13=140854547;refseq.end_14=140854547;refseq.end_15=140854547;refseq.end_16=140854547;refseq.end_17=140854547;refseq.end_18=140854547;refseq.end_19=140854547;refseq.end_2=140854547;refseq.end_20=140854547;refseq.end_21=140854547;refseq.end_22=140836718;refseq.end_23=140836718;refseq.end_3=140854547;refseq.end_4=140854547;refseq.end_5=140854547;refseq.end_6=140854547;refseq.end_7=140854547;refseq.end_8=140854547;refseq.end_9=140854547;refseq.frame_22=1;refseq.frame_23=1;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.haplotypeAlternate_22=C;refseq.haplotypeAlternate_23=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=G;refseq.haplotypeReference_23=G;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=false;refseq.inCodingRegion_19=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_20=false;refseq.inCodingRegion_21=false;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_22=966;refseq.mrnaCoord_23=966;refseq.name2_1=PCDHGA1;refseq.name2_10=PCDHGA7;refseq.name2_11=PCDHGB4;refseq.name2_12=PCDHGA8;refseq.name2_13=PCDHGB5;refseq.name2_14=PCDHGA9;refseq.name2_15=PCDHGB6;refseq.name2_16=PCDHGA10;refseq.name2_17=PCDHGB7;refseq.name2_18=PCDHGA11;refseq.name2_19=PCDHGA11;refseq.name2_2=PCDHGA2;refseq.name2_20=PCDHGA12;refseq.name2_21=PCDHGC3;refseq.name2_22=PCDHGC3;refseq.name2_23=PCDHGC3;refseq.name2_3=PCDHGA3;refseq.name2_4=PCDHGB1;refseq.name2_5=PCDHGA4;refseq.name2_6=PCDHGB2;refseq.name2_7=PCDHGA5;refseq.name2_8=PCDHGB3;refseq.name2_9=PCDHGA6;refseq.name_1=NM_018912;refseq.name_10=NM_018920;refseq.name_11=NM_003736;refseq.name_12=NM_032088;refseq.name_13=NM_018925;refseq.name_14=NM_018921;refseq.name_15=NM_018926;refseq.name_16=NM_018913;refseq.name_17=NM_018927;refseq.name_18=NM_032092;refseq.name_19=NM_018914;refseq.name_2=NM_018915;refseq.name_20=NM_003735;refseq.name_21=NM_032403;refseq.name_22=NM_002588;refseq.name_23=NM_032402;refseq.name_3=NM_018916;refseq.name_4=NM_018922;refseq.name_5=NM_018917;refseq.name_6=NM_018923;refseq.name_7=NM_018918;refseq.name_8=NM_018924;refseq.name_9=NM_018919;refseq.numMatchingRecords=23;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=intron;refseq.positionType_19=intron;refseq.positionType_2=intron;refseq.positionType_20=intron;refseq.positionType_21=intron;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_22=p.G284A;refseq.proteinCoordStr_23=p.G284A;refseq.referenceAA_22=Gly;refseq.referenceAA_23=Gly;refseq.referenceCodon_22=GGC;refseq.referenceCodon_23=GGC;refseq.spliceDist_22=966;refseq.spliceDist_23=966;refseq.start_1=140692867;refseq.start_10=140745085;refseq.start_11=140750043;refseq.start_12=140754999;refseq.start_13=140760286;refseq.start_14=140765138;refseq.start_15=140770382;refseq.start_16=140775373;refseq.start_17=140780036;refseq.start_18=140782867;refseq.start_19=140783422;refseq.start_2=140701157;refseq.start_20=140792945;refseq.start_21=140835908;refseq.start_22=140836718;refseq.start_23=140836718;refseq.start_3=140706219;refseq.start_4=140712431;refseq.start_5=140717383;refseq.start_6=140722318;refseq.start_7=140726513;refseq.start_8=140732571;refseq.start_9=140736269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_22=Ala;refseq.variantAA_23=Ala;refseq.variantCodon_22=GCC;refseq.variantCodon_23=GCC;set=FilteredInAll GT 0/1 chr5 140838266 . T G 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.500000;SecondBestBaseQ=14;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_20=chr5;refseq.chr_21=chr5;refseq.chr_22=chr5;refseq.chr_23=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_22=c.2399T>G;refseq.codingCoordStr_23=c.2399T>G;refseq.codonCoord_22=800;refseq.codonCoord_23=800;refseq.end_1=140854547;refseq.end_10=140854547;refseq.end_11=140854547;refseq.end_12=140854547;refseq.end_13=140854547;refseq.end_14=140854547;refseq.end_15=140854547;refseq.end_16=140854547;refseq.end_17=140854547;refseq.end_18=140854547;refseq.end_19=140854547;refseq.end_2=140854547;refseq.end_20=140854547;refseq.end_21=140854547;refseq.end_22=140838266;refseq.end_23=140838266;refseq.end_3=140854547;refseq.end_4=140854547;refseq.end_5=140854547;refseq.end_6=140854547;refseq.end_7=140854547;refseq.end_8=140854547;refseq.end_9=140854547;refseq.frame_22=1;refseq.frame_23=1;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.haplotypeAlternate_22=G;refseq.haplotypeAlternate_23=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=T;refseq.haplotypeReference_23=T;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=false;refseq.inCodingRegion_19=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_20=false;refseq.inCodingRegion_21=false;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_22=2514;refseq.mrnaCoord_23=2514;refseq.name2_1=PCDHGA1;refseq.name2_10=PCDHGA7;refseq.name2_11=PCDHGB4;refseq.name2_12=PCDHGA8;refseq.name2_13=PCDHGB5;refseq.name2_14=PCDHGA9;refseq.name2_15=PCDHGB6;refseq.name2_16=PCDHGA10;refseq.name2_17=PCDHGB7;refseq.name2_18=PCDHGA11;refseq.name2_19=PCDHGA11;refseq.name2_2=PCDHGA2;refseq.name2_20=PCDHGA12;refseq.name2_21=PCDHGC3;refseq.name2_22=PCDHGC3;refseq.name2_23=PCDHGC3;refseq.name2_3=PCDHGA3;refseq.name2_4=PCDHGB1;refseq.name2_5=PCDHGA4;refseq.name2_6=PCDHGB2;refseq.name2_7=PCDHGA5;refseq.name2_8=PCDHGB3;refseq.name2_9=PCDHGA6;refseq.name_1=NM_018912;refseq.name_10=NM_018920;refseq.name_11=NM_003736;refseq.name_12=NM_032088;refseq.name_13=NM_018925;refseq.name_14=NM_018921;refseq.name_15=NM_018926;refseq.name_16=NM_018913;refseq.name_17=NM_018927;refseq.name_18=NM_032092;refseq.name_19=NM_018914;refseq.name_2=NM_018915;refseq.name_20=NM_003735;refseq.name_21=NM_032403;refseq.name_22=NM_002588;refseq.name_23=NM_032402;refseq.name_3=NM_018916;refseq.name_4=NM_018922;refseq.name_5=NM_018917;refseq.name_6=NM_018923;refseq.name_7=NM_018918;refseq.name_8=NM_018924;refseq.name_9=NM_018919;refseq.numMatchingRecords=23;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=intron;refseq.positionType_19=intron;refseq.positionType_2=intron;refseq.positionType_20=intron;refseq.positionType_21=intron;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_22=p.V800G;refseq.proteinCoordStr_23=p.V800G;refseq.referenceAA_22=Val;refseq.referenceAA_23=Val;refseq.referenceCodon_22=GTG;refseq.referenceCodon_23=GTG;refseq.spliceDist_22=-32;refseq.spliceDist_23=-281;refseq.start_1=140692867;refseq.start_10=140745085;refseq.start_11=140750043;refseq.start_12=140754999;refseq.start_13=140760286;refseq.start_14=140765138;refseq.start_15=140770382;refseq.start_16=140775373;refseq.start_17=140780036;refseq.start_18=140782867;refseq.start_19=140783422;refseq.start_2=140701157;refseq.start_20=140792945;refseq.start_21=140835908;refseq.start_22=140838266;refseq.start_23=140838266;refseq.start_3=140706219;refseq.start_4=140712431;refseq.start_5=140717383;refseq.start_6=140722318;refseq.start_7=140726513;refseq.start_8=140732571;refseq.start_9=140736269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_22=Gly;refseq.variantAA_23=Gly;refseq.variantCodon_22=GGG;refseq.variantCodon_23=GGG;set=soap GT 1/0 chr5 140847317 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_23=true;refseq.changesAA_24=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_20=chr5;refseq.chr_21=chr5;refseq.chr_22=chr5;refseq.chr_23=chr5;refseq.chr_24=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_23=c.2393A>G;refseq.codingCoordStr_24=c.2393A>G;refseq.codonCoord_23=798;refseq.codonCoord_24=798;refseq.end_1=140854547;refseq.end_10=140854547;refseq.end_11=140854547;refseq.end_12=140854547;refseq.end_13=140854547;refseq.end_14=140854547;refseq.end_15=140854547;refseq.end_16=140854547;refseq.end_17=140854547;refseq.end_18=140854547;refseq.end_19=140854547;refseq.end_2=140854547;refseq.end_20=140854547;refseq.end_21=140854547;refseq.end_22=140854547;refseq.end_23=140847317;refseq.end_24=140847317;refseq.end_3=140854547;refseq.end_4=140854547;refseq.end_5=140854547;refseq.end_6=140854547;refseq.end_7=140854547;refseq.end_8=140854547;refseq.end_9=140854547;refseq.frame_23=1;refseq.frame_24=1;refseq.functionalClass_23=missense;refseq.functionalClass_24=missense;refseq.haplotypeAlternate_23=G;refseq.haplotypeAlternate_24=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=*;refseq.haplotypeReference_23=A;refseq.haplotypeReference_24=A;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=false;refseq.inCodingRegion_19=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_20=false;refseq.inCodingRegion_21=false;refseq.inCodingRegion_22=false;refseq.inCodingRegion_23=true;refseq.inCodingRegion_24=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_23=2393;refseq.mrnaCoord_24=2393;refseq.name2_1=PCDHGA1;refseq.name2_10=PCDHGA7;refseq.name2_11=PCDHGB4;refseq.name2_12=PCDHGA8;refseq.name2_13=PCDHGB5;refseq.name2_14=PCDHGA9;refseq.name2_15=PCDHGB6;refseq.name2_16=PCDHGA10;refseq.name2_17=PCDHGB7;refseq.name2_18=PCDHGA11;refseq.name2_19=PCDHGA11;refseq.name2_2=PCDHGA2;refseq.name2_20=PCDHGA12;refseq.name2_21=PCDHGC3;refseq.name2_22=PCDHGC3;refseq.name2_23=PCDHGC4;refseq.name2_24=PCDHGC4;refseq.name2_3=PCDHGA3;refseq.name2_4=PCDHGB1;refseq.name2_5=PCDHGA4;refseq.name2_6=PCDHGB2;refseq.name2_7=PCDHGA5;refseq.name2_8=PCDHGB3;refseq.name2_9=PCDHGA6;refseq.name_1=NM_018912;refseq.name_10=NM_018920;refseq.name_11=NM_003736;refseq.name_12=NM_032088;refseq.name_13=NM_018925;refseq.name_14=NM_018921;refseq.name_15=NM_018926;refseq.name_16=NM_018913;refseq.name_17=NM_018927;refseq.name_18=NM_032092;refseq.name_19=NM_018914;refseq.name_2=NM_018915;refseq.name_20=NM_003735;refseq.name_21=NM_032403;refseq.name_22=NM_002588;refseq.name_23=NM_018928;refseq.name_24=NM_032406;refseq.name_3=NM_018916;refseq.name_4=NM_018922;refseq.name_5=NM_018917;refseq.name_6=NM_018923;refseq.name_7=NM_018918;refseq.name_8=NM_018924;refseq.name_9=NM_018919;refseq.numMatchingRecords=24;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=intron;refseq.positionType_19=intron;refseq.positionType_2=intron;refseq.positionType_20=intron;refseq.positionType_21=intron;refseq.positionType_22=intron;refseq.positionType_23=CDS;refseq.positionType_24=CDS;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_23=p.E798G;refseq.proteinCoordStr_24=p.E798G;refseq.referenceAA_23=Glu;refseq.referenceAA_24=Glu;refseq.referenceCodon_23=GAG;refseq.referenceCodon_24=GAG;refseq.spliceDist_23=-50;refseq.spliceDist_24=-224;refseq.start_1=140692867;refseq.start_10=140745085;refseq.start_11=140750043;refseq.start_12=140754999;refseq.start_13=140760286;refseq.start_14=140765138;refseq.start_15=140770382;refseq.start_16=140775373;refseq.start_17=140780036;refseq.start_18=140782867;refseq.start_19=140783422;refseq.start_2=140701157;refseq.start_20=140792945;refseq.start_21=140835908;refseq.start_22=140838308;refseq.start_23=140847317;refseq.start_24=140847317;refseq.start_3=140706219;refseq.start_4=140712431;refseq.start_5=140717383;refseq.start_6=140722318;refseq.start_7=140726513;refseq.start_8=140732571;refseq.start_9=140736269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_24=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_23=Gly;refseq.variantAA_24=Gly;refseq.variantCodon_23=GGG;refseq.variantCodon_24=GGG;set=FilteredInAll GT 0/1 chr5 140850166 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_24=true;refseq.changesAA_25=true;refseq.chr_1=chr5;refseq.chr_10=chr5;refseq.chr_11=chr5;refseq.chr_12=chr5;refseq.chr_13=chr5;refseq.chr_14=chr5;refseq.chr_15=chr5;refseq.chr_16=chr5;refseq.chr_17=chr5;refseq.chr_18=chr5;refseq.chr_19=chr5;refseq.chr_2=chr5;refseq.chr_20=chr5;refseq.chr_21=chr5;refseq.chr_22=chr5;refseq.chr_23=chr5;refseq.chr_24=chr5;refseq.chr_25=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.chr_9=chr5;refseq.codingCoordStr_24=c.1175A>C;refseq.codingCoordStr_25=c.1175A>C;refseq.codonCoord_24=392;refseq.codonCoord_25=392;refseq.end_1=140854547;refseq.end_10=140854547;refseq.end_11=140854547;refseq.end_12=140854547;refseq.end_13=140854547;refseq.end_14=140854547;refseq.end_15=140854547;refseq.end_16=140854547;refseq.end_17=140854547;refseq.end_18=140854547;refseq.end_19=140854547;refseq.end_2=140854547;refseq.end_20=140854547;refseq.end_21=140854547;refseq.end_22=140854547;refseq.end_23=140854547;refseq.end_24=140850166;refseq.end_25=140850166;refseq.end_3=140854547;refseq.end_4=140854547;refseq.end_5=140854547;refseq.end_6=140854547;refseq.end_7=140854547;refseq.end_8=140854547;refseq.end_9=140854547;refseq.frame_24=1;refseq.frame_25=1;refseq.functionalClass_24=missense;refseq.functionalClass_25=missense;refseq.haplotypeAlternate_24=C;refseq.haplotypeAlternate_25=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=*;refseq.haplotypeReference_23=*;refseq.haplotypeReference_24=A;refseq.haplotypeReference_25=A;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=false;refseq.inCodingRegion_17=false;refseq.inCodingRegion_18=false;refseq.inCodingRegion_19=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_20=false;refseq.inCodingRegion_21=false;refseq.inCodingRegion_22=false;refseq.inCodingRegion_23=false;refseq.inCodingRegion_24=true;refseq.inCodingRegion_25=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_24=1175;refseq.mrnaCoord_25=1175;refseq.name2_1=PCDHGA1;refseq.name2_10=PCDHGA7;refseq.name2_11=PCDHGB4;refseq.name2_12=PCDHGA8;refseq.name2_13=PCDHGB5;refseq.name2_14=PCDHGA9;refseq.name2_15=PCDHGB6;refseq.name2_16=PCDHGA10;refseq.name2_17=PCDHGB7;refseq.name2_18=PCDHGA11;refseq.name2_19=PCDHGA11;refseq.name2_2=PCDHGA2;refseq.name2_20=PCDHGA12;refseq.name2_21=PCDHGC3;refseq.name2_22=PCDHGC3;refseq.name2_23=PCDHGC4;refseq.name2_24=PCDHGC5;refseq.name2_25=PCDHGC5;refseq.name2_3=PCDHGA3;refseq.name2_4=PCDHGB1;refseq.name2_5=PCDHGA4;refseq.name2_6=PCDHGB2;refseq.name2_7=PCDHGA5;refseq.name2_8=PCDHGB3;refseq.name2_9=PCDHGA6;refseq.name_1=NM_018912;refseq.name_10=NM_018920;refseq.name_11=NM_003736;refseq.name_12=NM_032088;refseq.name_13=NM_018925;refseq.name_14=NM_018921;refseq.name_15=NM_018926;refseq.name_16=NM_018913;refseq.name_17=NM_018927;refseq.name_18=NM_032092;refseq.name_19=NM_018914;refseq.name_2=NM_018915;refseq.name_20=NM_003735;refseq.name_21=NM_032403;refseq.name_22=NM_002588;refseq.name_23=NM_018928;refseq.name_24=NM_018929;refseq.name_25=NM_032407;refseq.name_3=NM_018916;refseq.name_4=NM_018922;refseq.name_5=NM_018917;refseq.name_6=NM_018923;refseq.name_7=NM_018918;refseq.name_8=NM_018924;refseq.name_9=NM_018919;refseq.numMatchingRecords=25;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=intron;refseq.positionType_17=intron;refseq.positionType_18=intron;refseq.positionType_19=intron;refseq.positionType_2=intron;refseq.positionType_20=intron;refseq.positionType_21=intron;refseq.positionType_22=intron;refseq.positionType_23=intron;refseq.positionType_24=CDS;refseq.positionType_25=CDS;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_24=p.D392A;refseq.proteinCoordStr_25=p.D392A;refseq.referenceAA_24=Asp;refseq.referenceAA_25=Asp;refseq.referenceCodon_24=GAC;refseq.referenceCodon_25=GAC;refseq.spliceDist_24=1175;refseq.spliceDist_25=1175;refseq.start_1=140692867;refseq.start_10=140745085;refseq.start_11=140750043;refseq.start_12=140754999;refseq.start_13=140760286;refseq.start_14=140765138;refseq.start_15=140770382;refseq.start_16=140775373;refseq.start_17=140780036;refseq.start_18=140782867;refseq.start_19=140783422;refseq.start_2=140701157;refseq.start_20=140792945;refseq.start_21=140835908;refseq.start_22=140838308;refseq.start_23=140847377;refseq.start_24=140850166;refseq.start_25=140850166;refseq.start_3=140706219;refseq.start_4=140712431;refseq.start_5=140717383;refseq.start_6=140722318;refseq.start_7=140726513;refseq.start_8=140732571;refseq.start_9=140736269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_24=+;refseq.transcriptStrand_25=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_24=Ala;refseq.variantAA_25=Ala;refseq.variantCodon_24=GCC;refseq.variantCodon_25=GCC;set=FilteredInAll GT 0/1 chr5 140994678 . T C 218.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=12.58;MQ=98.86;MQ0=0;OQ=11969.76;QD=19.82;RankSumP=0.338401;SB=-4094.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.165A>G;refseq.codonCoord=55;refseq.end=140994678;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_003883;refseq.name2=HDAC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q55Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=27;refseq.start=140994678;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr5 140999294 . C A 130.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=9.44;MQ=98.73;MQ0=0;OQ=1865.57;QD=12.78;RankSumP=0.0177286;SB=-750.55;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.397C>A;refseq.codingCoordStr_2=c.*1955G>T;refseq.codingCoordStr_3=c.397C>A;refseq.codonCoord_1=133;refseq.codonCoord_3=133;refseq.end_1=140999294;refseq.end_2=140999294;refseq.end_3=140999294;refseq.frame_1=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=4079;refseq.mrnaCoord_3=1673;refseq.name2_1=RELL2;refseq.name2_2=FCHSD1;refseq.name2_3=RELL2;refseq.name_1=NM_001130029;refseq.name_2=NM_033449;refseq.name_3=NM_173828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L133I;refseq.proteinCoordStr_3=p.L133I;refseq.referenceAA_1=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=80;refseq.spliceDist_2=-242;refseq.spliceDist_3=80;refseq.start_1=140999294;refseq.start_2=140999294;refseq.start_3=140999294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/0 chr5 141015134 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=42;Dels=0.00;HRun=1;HaplotypeScore=7.41;MQ=97.30;MQ0=0;OQ=930.44;QD=22.15;RankSumP=0.107302;SB=-406.18;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4128G>A;refseq.codonCoord=1376;refseq.end=141015134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4206;refseq.name=NM_022481;refseq.name2=ARAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1376R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=18;refseq.start=141015134;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr5 141016521 . A G 108.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.41;MQ=98.31;MQ0=0;OQ=755.85;QD=16.80;RankSumP=0.0310342;SB=-387.31;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3603T>C;refseq.codonCoord=1201;refseq.end=141016521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3681;refseq.name=NM_022481;refseq.name2=ARAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-53;refseq.start=141016521;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr5 141223830 . A G 140.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=3.30;MQ=98.70;MQ0=0;OQ=2097.38;QD=13.11;RankSumP=0.230172;SB=-905.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2250T>C;refseq.codingCoordStr_2=c.2250T>C;refseq.codonCoord_1=750;refseq.codonCoord_2=750;refseq.end_1=141223830;refseq.end_2=141223830;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2367;refseq.mrnaCoord_2=2367;refseq.name2_1=PCDH1;refseq.name2_2=PCDH1;refseq.name_1=NM_002587;refseq.name_2=NM_032420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A750A;refseq.proteinCoordStr_2=p.A750A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=1347;refseq.spliceDist_2=-850;refseq.start_1=141223830;refseq.start_2=141223830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr5 141224010 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2070T>G;refseq.codingCoordStr_2=c.2070T>G;refseq.codonCoord_1=690;refseq.codonCoord_2=690;refseq.end_1=141224010;refseq.end_2=141224010;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2187;refseq.mrnaCoord_2=2187;refseq.name2_1=PCDH1;refseq.name2_2=PCDH1;refseq.name_1=NM_002587;refseq.name_2=NM_032420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G690G;refseq.proteinCoordStr_2=p.G690G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=1167;refseq.spliceDist_2=-1030;refseq.start_1=141224010;refseq.start_2=141224010;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr5 141224229 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.39188e-09;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1851C>A;refseq.codingCoordStr_2=c.1851C>A;refseq.codonCoord_1=617;refseq.codonCoord_2=617;refseq.end_1=141224229;refseq.end_2=141224229;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1968;refseq.mrnaCoord_2=1968;refseq.name2_1=PCDH1;refseq.name2_2=PCDH1;refseq.name_1=NM_002587;refseq.name_2=NM_032420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y617*;refseq.proteinCoordStr_2=p.Y617*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=948;refseq.spliceDist_2=948;refseq.start_1=141224229;refseq.start_2=141224229;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr5 141224644 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1436T>G;refseq.codingCoordStr_2=c.1436T>G;refseq.codonCoord_1=479;refseq.codonCoord_2=479;refseq.end_1=141224644;refseq.end_2=141224644;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1553;refseq.mrnaCoord_2=1553;refseq.name2_1=PCDH1;refseq.name2_2=PCDH1;refseq.name_1=NM_002587;refseq.name_2=NM_032420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V479G;refseq.proteinCoordStr_2=p.V479G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=533;refseq.spliceDist_2=533;refseq.start_1=141224644;refseq.start_2=141224644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr5 141229147 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=1.95;MQ=98.78;MQ0=0;OQ=617.19;QD=11.43;RankSumP=0.706185;SB=-205.24;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.74A>C;refseq.codingCoordStr_2=c.74A>C;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=141229147;refseq.end_2=141229147;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=191;refseq.mrnaCoord_2=191;refseq.name2_1=PCDH1;refseq.name2_2=PCDH1;refseq.name_1=NM_002587;refseq.name_2=NM_032420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H25P;refseq.proteinCoordStr_2=p.H25P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=141229147;refseq.start_2=141229147;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr5 141290008 . G A 277.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=98.99;MQ0=0;OQ=2321.50;QD=16.01;RankSumP=0.00596191;SB=-796.23;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.739G>A;refseq.codingCoordStr_2=c.739G>A;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.end_1=141290008;refseq.end_2=141290008;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=861;refseq.mrnaCoord_2=861;refseq.name2_1=KIAA0141;refseq.name2_2=KIAA0141;refseq.name_1=NM_001142603;refseq.name_2=NM_014773;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A247T;refseq.proteinCoordStr_2=p.A247T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=141290008;refseq.start_2=141290008;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=filterInsoap-gatk GT 1/0 chr5 141305433 . T C 421.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.21;MQ0=0;OQ=3661.45;QD=35.90;RankSumP=1.00000;SB=-1751.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3252A>G;refseq.codonCoord=1084;refseq.end=141305433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4463;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1084P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=122;refseq.start=141305433;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 141315425 . A G 297.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=98.62;MQ0=0;OQ=6591.76;QD=17.86;RankSumP=0.359986;SB=-2396.91;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2176T>C;refseq.codonCoord=726;refseq.end=141315425;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3387;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L726L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-705;refseq.start=141315425;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 141315468 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=2;HaplotypeScore=18.99;MQ=98.91;MQ0=0;OQ=5491.49;QD=19.47;RankSumP=0.322506;SB=-1069.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2133C>T;refseq.codonCoord=711;refseq.end=141315468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3344;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A711A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-748;refseq.start=141315468;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 141315682 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=13.09;MQ=98.75;MQ0=0;OQ=5295.13;QD=21.88;RankSumP=0.110874;SB=-2239.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1919G>A;refseq.codonCoord=640;refseq.end=141315682;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3130;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S640N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-962;refseq.start=141315682;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr5 141316448 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=448;Dels=0.00;HRun=1;HaplotypeScore=16.95;MQ=98.80;MQ0=0;OQ=8376.65;QD=18.70;RankSumP=0.492203;SB=-3148.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1153C>A;refseq.codonCoord=385;refseq.end=141316448;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2364;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.H385N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1728;refseq.start=141316448;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr5 141317310 . C T 107.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=98.63;MQ0=0;OQ=1314.80;QD=12.77;RankSumP=0.163125;SB=-376.86;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.291G>A;refseq.codonCoord=97;refseq.end=141317310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1502;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L97L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1502;refseq.start=141317310;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr5 141317409 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=12.03;MQ=98.59;MQ0=0;OQ=2431.61;QD=11.52;RankSumP=0.379688;SB=-569.98;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=141317409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1403;refseq.name=NM_016580;refseq.name2=PCDH12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A64A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1403;refseq.start=141317409;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr5 141955064 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.chr_8=chr5;refseq.codingCoordStr_3=c.443T>C;refseq.codingCoordStr_4=c.443T>C;refseq.codingCoordStr_5=c.443T>C;refseq.codingCoordStr_6=c.443T>C;refseq.codingCoordStr_7=c.*156T>C;refseq.codingCoordStr_8=c.*156T>C;refseq.codonCoord_3=148;refseq.codonCoord_4=148;refseq.codonCoord_5=148;refseq.codonCoord_6=148;refseq.end_1=141955064;refseq.end_2=141955064;refseq.end_3=141955064;refseq.end_4=141955064;refseq.end_5=141955064;refseq.end_6=141955064;refseq.end_7=141955064;refseq.end_8=141955064;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.mrnaCoord_1=926;refseq.mrnaCoord_2=923;refseq.mrnaCoord_3=609;refseq.mrnaCoord_4=523;refseq.mrnaCoord_5=729;refseq.mrnaCoord_6=635;refseq.mrnaCoord_7=904;refseq.mrnaCoord_8=370;refseq.name2_1=FGF1;refseq.name2_2=FGF1;refseq.name2_3=FGF1;refseq.name2_4=FGF1;refseq.name2_5=FGF1;refseq.name2_6=FGF1;refseq.name2_7=FGF1;refseq.name2_8=FGF1;refseq.name_1=NR_026695;refseq.name_2=NR_026696;refseq.name_3=NM_000800;refseq.name_4=NM_001144892;refseq.name_5=NM_001144934;refseq.name_6=NM_001144935;refseq.name_7=NM_033136;refseq.name_8=NM_033137;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=utr3;refseq.positionType_8=utr3;refseq.proteinCoordStr_3=p.L148P;refseq.proteinCoordStr_4=p.L148P;refseq.proteinCoordStr_5=p.L148P;refseq.proteinCoordStr_6=p.L148P;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.spliceDist_1=170;refseq.spliceDist_2=167;refseq.spliceDist_3=170;refseq.spliceDist_4=170;refseq.spliceDist_5=170;refseq.spliceDist_6=170;refseq.spliceDist_7=170;refseq.spliceDist_8=167;refseq.start_1=141955064;refseq.start_2=141955064;refseq.start_3=141955064;refseq.start_4=141955064;refseq.start_5=141955064;refseq.start_6=141955064;refseq.start_7=141955064;refseq.start_8=141955064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 0/1 chr5 142401608 . T G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=3412.84;QD=42.13;RankSumP=1.00000;SB=-1579.23;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1245T>G;refseq.codingCoordStr_2=c.1245T>G;refseq.codonCoord_1=415;refseq.codonCoord_2=415;refseq.end_1=142401608;refseq.end_2=142401608;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1280;refseq.mrnaCoord_2=1280;refseq.name2_1=ARHGAP26;refseq.name2_2=ARHGAP26;refseq.name_1=NM_001135608;refseq.name_2=NM_015071;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G415G;refseq.proteinCoordStr_2=p.G415G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=142401608;refseq.start_2=142401608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr5 142573845 . C T 319.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1283.19;QD=41.39;RankSumP=1.00000;SB=-262.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2190C>T;refseq.codingCoordStr_2=c.2355C>T;refseq.codonCoord_1=730;refseq.codonCoord_2=785;refseq.end_1=142573845;refseq.end_2=142573845;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2225;refseq.mrnaCoord_2=2390;refseq.name2_1=ARHGAP26;refseq.name2_2=ARHGAP26;refseq.name_1=NM_001135608;refseq.name_2=NM_015071;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N730N;refseq.proteinCoordStr_2=p.N785N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=142573845;refseq.start_2=142573845;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr5 142641683 . A G 227.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.93;MQ0=0;OQ=2372.55;QD=14.65;RankSumP=0.286120;SB=-1190.56;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.chr_6=chr5;refseq.chr_7=chr5;refseq.codingCoordStr_2=c.2298T>C;refseq.codingCoordStr_3=c.2298T>C;refseq.codingCoordStr_4=c.2298T>C;refseq.codingCoordStr_5=c.2298T>C;refseq.codingCoordStr_6=c.2298T>C;refseq.codingCoordStr_7=c.2301T>C;refseq.codonCoord_2=766;refseq.codonCoord_3=766;refseq.codonCoord_4=766;refseq.codonCoord_5=766;refseq.codonCoord_6=766;refseq.codonCoord_7=767;refseq.end_1=142642315;refseq.end_2=142641683;refseq.end_3=142641683;refseq.end_4=142641683;refseq.end_5=142641683;refseq.end_6=142641683;refseq.end_7=142641683;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=2790;refseq.mrnaCoord_3=2620;refseq.mrnaCoord_4=2523;refseq.mrnaCoord_5=2416;refseq.mrnaCoord_6=3292;refseq.mrnaCoord_7=2793;refseq.name2_1=NR3C1;refseq.name2_2=NR3C1;refseq.name2_3=NR3C1;refseq.name2_4=NR3C1;refseq.name2_5=NR3C1;refseq.name2_6=NR3C1;refseq.name2_7=NR3C1;refseq.name_1=NM_001020825;refseq.name_2=NM_000176;refseq.name_3=NM_001018074;refseq.name_4=NM_001018075;refseq.name_5=NM_001018076;refseq.name_6=NM_001018077;refseq.name_7=NM_001024094;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.N766N;refseq.proteinCoordStr_3=p.N766N;refseq.proteinCoordStr_4=p.N766N;refseq.proteinCoordStr_5=p.N766N;refseq.proteinCoordStr_6=p.N766N;refseq.proteinCoordStr_7=p.N767N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.referenceCodon_7=AAT;refseq.spliceDist_2=117;refseq.spliceDist_3=117;refseq.spliceDist_4=117;refseq.spliceDist_5=117;refseq.spliceDist_6=117;refseq.spliceDist_7=117;refseq.start_1=142639180;refseq.start_2=142641683;refseq.start_3=142641683;refseq.start_4=142641683;refseq.start_5=142641683;refseq.start_6=142641683;refseq.start_7=142641683;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;refseq.variantCodon_7=AAC;set=Intersection GT 0/1 chr5 143180246 . C T 305.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.77;MQ0=0;OQ=20165.16;QD=40.99;RankSumP=1.00000;SB=-5170.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.46C>T;refseq.codonCoord=16;refseq.end=143180246;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_021182;refseq.name2=HMHB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H16Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=143180246;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr5 143520273 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.655T>G;refseq.codingCoordStr_2=c.655T>G;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=143520273;refseq.end_2=143520273;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1096;refseq.mrnaCoord_2=845;refseq.name2_1=YIPF5;refseq.name2_2=YIPF5;refseq.name_1=NM_001024947;refseq.name_2=NM_030799;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C219G;refseq.proteinCoordStr_2=p.C219G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=143520273;refseq.start_2=143520273;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr5 143525295 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.177A>C;refseq.codingCoordStr_2=c.177A>C;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=143525295;refseq.end_2=143525295;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=367;refseq.name2_1=YIPF5;refseq.name2_2=YIPF5;refseq.name_1=NM_001024947;refseq.name_2=NM_030799;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q59H;refseq.proteinCoordStr_2=p.Q59H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=143525295;refseq.start_2=143525295;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr5 145226278 . T G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=424;Dels=0.00;HRun=4;HaplotypeScore=8.48;MQ=98.71;MQ0=0;OQ=16908.75;QD=39.88;RankSumP=1.00000;SB=-5568.74;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.543A>C;refseq.codonCoord=181;refseq.end=145226278;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_001080516;refseq.name2=GRXCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L181F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-22;refseq.start=145226278;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr5 145373557 . C T 348.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=11.91;MQ=98.93;MQ0=0;OQ=5529.95;QD=19.34;RankSumP=0.392369;SB=-2179.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.799C>T;refseq.codonCoord=267;refseq.end=145373557;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_152550;refseq.name2=SH3RF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R267C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=145373557;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr5 145419727 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1661A>C;refseq.codonCoord=554;refseq.end=145419727;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1899;refseq.name=NM_152550;refseq.name2=SH3RF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y554S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=106;refseq.start=145419727;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 145419840 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=1700.61;QD=34.71;RankSumP=1.00000;SB=-367.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1774T>C;refseq.codonCoord=592;refseq.end=145419840;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2012;refseq.name=NM_152550;refseq.name2=SH3RF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W592R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-141;refseq.start=145419840;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 145422396 . G C 265.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=5.51;MQ=98.76;MQ0=0;OQ=5062.76;QD=19.18;RankSumP=0.493138;SB=-2121.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2129G>C;refseq.codonCoord=710;refseq.end=145422396;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2367;refseq.name=NM_152550;refseq.name2=SH3RF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G710A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=215;refseq.start=145422396;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr5 145458048 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=177;Dels=0.00;HRun=2;HaplotypeScore=28.03;MQ=98.63;MQ0=0;OQ=2091.21;QD=11.81;RankSumP=0.0229866;SB=-251.31;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.120A>G;refseq.codonCoord=40;refseq.end=145458048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_001029869;refseq.name2=PLAC8L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R40R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=145458048;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr5 145464037 . A T 327.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.96;MQ0=0;OQ=4179.55;QD=17.64;RankSumP=0.237811;SB=-1193.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.31T>A;refseq.codonCoord=11;refseq.end=145464037;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=103;refseq.name=NM_001029869;refseq.name2=PLAC8L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C11S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-89;refseq.start=145464037;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr5 145480189 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=515;Dels=0.00;HRun=1;HaplotypeScore=18.87;MQ=98.87;MQ0=0;OQ=11029.67;QD=21.42;RankSumP=0.377973;SB=-4676.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3263G>A;refseq.codonCoord=1088;refseq.end=145480189;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3501;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1088K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-63;refseq.start=145480189;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr5 145488533 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=1;HaplotypeScore=12.30;MQ=98.77;MQ0=0;OQ=6447.95;QD=18.48;RankSumP=0.105532;SB=-1040.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2775T>C;refseq.codonCoord=925;refseq.end=145488533;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3013;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T925T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=145488533;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr5 145488829 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=29.18;MQ=97.50;MQ0=0;OQ=597.89;QD=7.03;RankSumP=0.000888041;SB=-97.78;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2674A>G;refseq.codonCoord=892;refseq.end=145488829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2912;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.N892D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=46;refseq.start=145488829;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr5 145488830 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=29.18;MQ=97.64;MQ0=0;OQ=609.35;QD=7.17;RankSumP=0.0591559;SB=-86.92;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2673T>G;refseq.codonCoord=891;refseq.end=145488830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2911;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V891V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=45;refseq.start=145488830;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 0/1 chr5 145488836 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2667T>G;refseq.codonCoord=889;refseq.end=145488836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2905;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G889G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=39;refseq.start=145488836;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 145500014 . G A 269.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.76;MQ0=0;OQ=2581.28;QD=15.55;RankSumP=0.359591;SB=-865.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2094C>T;refseq.codonCoord=698;refseq.end=145500014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2332;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.D698D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=145500014;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr5 145503298 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=446;Dels=0.00;HRun=1;HaplotypeScore=10.59;MQ=98.81;MQ0=0;OQ=8504.78;QD=19.07;RankSumP=0.376451;SB=-1505.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1747C>T;refseq.codonCoord=583;refseq.end=145503298;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1985;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L583L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=145503298;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr5 145520189 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1528.27;QD=14.55;RankSumP=0.237981;SB=-787.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.648A>C;refseq.codonCoord=216;refseq.end=145520189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S216S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=54;refseq.start=145520189;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr5 145524165 . G A 305.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.27;MQ0=0;OQ=2387.34;QD=18.95;RankSumP=0.130001;SB=-1201.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.495C>T;refseq.codonCoord=165;refseq.end=145524165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_020117;refseq.name2=LARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G165G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=63;refseq.start=145524165;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr5 145621483 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2111A>C;refseq.codonCoord=704;refseq.end=145621483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2277;refseq.name=NM_018989;refseq.name2=RBM27;refseq.positionType=CDS;refseq.proteinCoordStr=p.H704P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-80;refseq.start=145621483;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 145699418 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.235A>C;refseq.codonCoord=79;refseq.end=145699418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=324;refseq.name=NM_002700;refseq.name2=POU4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T79P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=115;refseq.start=145699418;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 145699938 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.755T>G;refseq.codonCoord=252;refseq.end=145699938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_002700;refseq.name2=POU4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L252W;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-339;refseq.start=145699938;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr5 145870221 . A G 200.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.77;MQ0=0;OQ=2871.44;QD=35.02;RankSumP=1.00000;SB=-835.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.3057A>G;refseq.codingCoordStr_2=c.3120A>G;refseq.codonCoord_1=1019;refseq.codonCoord_2=1040;refseq.end_1=145870221;refseq.end_2=145870221;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3097;refseq.mrnaCoord_2=3160;refseq.name2_1=TCERG1;refseq.name2_2=TCERG1;refseq.name_1=NM_001040006;refseq.name_2=NM_006706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1019S;refseq.proteinCoordStr_2=p.S1040S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=145870221;refseq.start_2=145870221;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr5 146760466 . G A 146.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=417;Dels=0.00;HRun=1;HaplotypeScore=6.78;MQ=98.83;MQ0=0;OQ=7452.38;QD=17.87;RankSumP=0.206608;SB=-2738.34;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1092C>T;refseq.codonCoord=364;refseq.end=146760466;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_001387;refseq.name2=DPYSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V364V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-19;refseq.start=146760466;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr5 147266247 . G A 311.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=4.87;MQ=98.91;MQ0=0;OQ=5061.65;QD=37.49;RankSumP=1.00000;SB=-2034.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.11C>T;refseq.codonCoord=4;refseq.end=147266247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_206966;refseq.name2=C5orf46;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=48;refseq.start=147266247;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr5 147455579 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.18;MQ0=0;OQ=1474.71;QD=11.34;RankSumP=0.420192;SB=-663.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.800A>G;refseq.codingCoordStr_2=c.800A>G;refseq.codingCoordStr_3=c.800A>G;refseq.codonCoord_1=267;refseq.codonCoord_2=267;refseq.codonCoord_3=267;refseq.end_1=147455579;refseq.end_2=147455579;refseq.end_3=147455579;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=873;refseq.mrnaCoord_2=873;refseq.mrnaCoord_3=873;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q267R;refseq.proteinCoordStr_2=p.Q267R;refseq.proteinCoordStr_3=p.Q267R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=147455579;refseq.start_2=147455579;refseq.start_3=147455579;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr5 147457744 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=8.28;MQ=98.71;MQ0=0;OQ=2003.45;QD=11.79;RankSumP=0.144469;SB=-423.80;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1004C>T;refseq.codingCoordStr_2=c.1004C>T;refseq.codingCoordStr_3=c.1004C>T;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=335;refseq.end_1=147457744;refseq.end_2=147457744;refseq.end_3=147457744;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1077;refseq.mrnaCoord_2=1077;refseq.mrnaCoord_3=1077;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A335V;refseq.proteinCoordStr_2=p.A335V;refseq.proteinCoordStr_3=p.A335V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=147457744;refseq.start_2=147457744;refseq.start_3=147457744;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 0/1 chr5 147460220 . G A 107.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=5.75;MQ=98.62;MQ0=0;OQ=2337.77;QD=11.93;RankSumP=0.0524510;SB=-1001.29;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1103G>A;refseq.codingCoordStr_2=c.1103G>A;refseq.codingCoordStr_3=c.1103G>A;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.codonCoord_3=368;refseq.end_1=147460220;refseq.end_2=147460220;refseq.end_3=147460220;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1176;refseq.mrnaCoord_2=1176;refseq.mrnaCoord_3=1176;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S368N;refseq.proteinCoordStr_2=p.S368N;refseq.proteinCoordStr_3=p.S368N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=147460220;refseq.start_2=147460220;refseq.start_3=147460220;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr5 147460305 . T C 358.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.55;MQ0=0;OQ=4491.38;QD=20.42;RankSumP=0.00592212;SB=-1827.62;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1188T>C;refseq.codingCoordStr_2=c.1188T>C;refseq.codingCoordStr_3=c.1188T>C;refseq.codonCoord_1=396;refseq.codonCoord_2=396;refseq.codonCoord_3=396;refseq.end_1=147460305;refseq.end_2=147460305;refseq.end_3=147460305;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1261;refseq.mrnaCoord_2=1261;refseq.mrnaCoord_3=1261;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H396H;refseq.proteinCoordStr_2=p.H396H;refseq.proteinCoordStr_3=p.H396H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=147460305;refseq.start_2=147460305;refseq.start_3=147460305;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=filterInsoap-gatk GT 1/0 chr5 147461148 . A G 262.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=4209.05;QD=21.26;RankSumP=0.493265;SB=-1443.17;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1258A>G;refseq.codingCoordStr_2=c.1258A>G;refseq.codingCoordStr_3=c.1258A>G;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.codonCoord_3=420;refseq.end_1=147461148;refseq.end_2=147461148;refseq.end_3=147461148;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1331;refseq.mrnaCoord_2=1331;refseq.mrnaCoord_3=1331;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K420E;refseq.proteinCoordStr_2=p.K420E;refseq.proteinCoordStr_3=p.K420E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.start_1=147461148;refseq.start_2=147461148;refseq.start_3=147461148;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 0/1 chr5 147461623 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.72;MQ0=0;OQ=5671.00;QD=22.50;RankSumP=0.251600;SB=-2365.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1389A>G;refseq.codingCoordStr_2=c.1389A>G;refseq.codingCoordStr_3=c.1389A>G;refseq.codonCoord_1=463;refseq.codonCoord_2=463;refseq.codonCoord_3=463;refseq.end_1=147461623;refseq.end_2=147461623;refseq.end_3=147461623;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1462;refseq.mrnaCoord_2=1462;refseq.mrnaCoord_3=1462;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G463G;refseq.proteinCoordStr_2=p.G463G;refseq.proteinCoordStr_3=p.G463G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=147461623;refseq.start_2=147461623;refseq.start_3=147461623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr5 147466870 . C A 245.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=653;Dels=0.00;HRun=0;HaplotypeScore=11.73;MQ=97.88;MQ0=0;OQ=12004.52;QD=18.38;RankSumP=0.359947;SB=-3734.90;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1557C>A;refseq.codingCoordStr_2=c.1557C>A;refseq.codingCoordStr_3=c.1557C>A;refseq.codonCoord_1=519;refseq.codonCoord_2=519;refseq.codonCoord_3=519;refseq.end_1=147466870;refseq.end_2=147466870;refseq.end_3=147466870;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1630;refseq.mrnaCoord_2=1630;refseq.mrnaCoord_3=1630;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G519G;refseq.proteinCoordStr_2=p.G519G;refseq.proteinCoordStr_3=p.G519G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=147466870;refseq.start_2=147466870;refseq.start_3=147466870;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/0 chr5 147468560 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.63;MQ0=0;OQ=1486.94;QD=18.82;RankSumP=0.116615;SB=-242.49;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1659C>T;refseq.codingCoordStr_2=c.1659C>T;refseq.codingCoordStr_3=c.1659C>T;refseq.codonCoord_1=553;refseq.codonCoord_2=553;refseq.codonCoord_3=553;refseq.end_1=147468560;refseq.end_2=147468560;refseq.end_3=147468560;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1732;refseq.mrnaCoord_2=1732;refseq.mrnaCoord_3=1732;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V553V;refseq.proteinCoordStr_2=p.V553V;refseq.proteinCoordStr_3=p.V553V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=147468560;refseq.start_2=147468560;refseq.start_3=147468560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr5 147478212 . G A 355.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=98.78;MQ0=0;OQ=2998.96;QD=18.51;RankSumP=0.378286;SB=-1431.30;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2132G>A;refseq.codingCoordStr_2=c.2132G>A;refseq.codingCoordStr_3=c.2132G>A;refseq.codonCoord_1=711;refseq.codonCoord_2=711;refseq.codonCoord_3=711;refseq.end_1=147478212;refseq.end_2=147478212;refseq.end_3=147478212;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2205;refseq.mrnaCoord_2=2205;refseq.mrnaCoord_3=2205;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R711Q;refseq.proteinCoordStr_2=p.R711Q;refseq.proteinCoordStr_3=p.R711Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=147478212;refseq.start_2=147478212;refseq.start_3=147478212;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/0 chr5 147479809 . C T 214.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=98.93;MQ0=0;OQ=2173.00;QD=16.72;RankSumP=0.228501;SB=-859.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2358C>T;refseq.codingCoordStr_2=c.2358C>T;refseq.codingCoordStr_3=c.2358C>T;refseq.codonCoord_1=786;refseq.codonCoord_2=786;refseq.codonCoord_3=786;refseq.end_1=147479809;refseq.end_2=147479809;refseq.end_3=147479809;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2431;refseq.mrnaCoord_2=2431;refseq.mrnaCoord_3=2431;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L786L;refseq.proteinCoordStr_2=p.L786L;refseq.proteinCoordStr_3=p.L786L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=147479809;refseq.start_2=147479809;refseq.start_3=147479809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 0/1 chr5 147479863 . C T 205.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.82;MQ0=0;OQ=4070.04;QD=17.77;RankSumP=0.00938813;SB=-1540.69;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2412C>T;refseq.codingCoordStr_2=c.2412C>T;refseq.codingCoordStr_3=c.2412C>T;refseq.codonCoord_1=804;refseq.codonCoord_2=804;refseq.codonCoord_3=804;refseq.end_1=147479863;refseq.end_2=147479863;refseq.end_3=147479863;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2485;refseq.mrnaCoord_2=2485;refseq.mrnaCoord_3=2485;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name2_3=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_001127699;refseq.name_3=NM_006846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G804G;refseq.proteinCoordStr_2=p.G804G;refseq.proteinCoordStr_3=p.G804G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=147479863;refseq.start_2=147479863;refseq.start_3=147479863;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=filterInsoap-gatk GT 0/1 chr5 147491059 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=763;Dels=0.00;HRun=0;HaplotypeScore=25.82;MQ=98.85;MQ0=0;OQ=16171.83;QD=21.20;RankSumP=0.00563788;SB=-6355.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.3099T>C;refseq.codingCoordStr_2=c.3009T>C;refseq.codonCoord_1=1033;refseq.codonCoord_2=1003;refseq.end_1=147491059;refseq.end_2=147491059;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3172;refseq.mrnaCoord_2=3082;refseq.name2_1=SPINK5;refseq.name2_2=SPINK5;refseq.name_1=NM_001127698;refseq.name_2=NM_006846;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1033G;refseq.proteinCoordStr_2=p.G1003G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=147491059;refseq.start_2=147491059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/0 chr5 147573690 . C A 298.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=8.59;MQ=98.62;MQ0=0;OQ=8705.10;QD=38.35;RankSumP=1.00000;SB=-3899.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.106C>A;refseq.codonCoord=36;refseq.end=147573690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_205841;refseq.name2=SPINK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P36T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=25;refseq.start=147573690;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr5 148186633 . G A 180.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=98.33;MQ0=0;OQ=1644.96;QD=15.67;RankSumP=0.220677;SB=-107.58;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.46G>A;refseq.codonCoord=16;refseq.end=148186633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_000024;refseq.name2=ADRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=285;refseq.start=148186633;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr5 148186666 . G C 242.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=9.51;MQ=98.51;MQ0=0;OQ=4764.93;QD=22.16;RankSumP=0.121088;SB=-1150.43;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.79G>C;refseq.codonCoord=27;refseq.end=148186666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_000024;refseq.name2=ADRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E27Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=318;refseq.start=148186666;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr5 148387901 . A C 258.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2317.82;QD=38.63;RankSumP=1.00000;SB=-552.42;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1587T>G;refseq.codonCoord=529;refseq.end=148387901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1739;refseq.name=NM_024577;refseq.name2=SH3TC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R529R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=410;refseq.start=148387901;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 148388294 . A G 195.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=912.18;QD=15.20;RankSumP=0.165486;SB=-410.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1194T>C;refseq.codonCoord=398;refseq.end=148388294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1346;refseq.name=NM_024577;refseq.name2=SH3TC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G398G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=17;refseq.start=148388294;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr5 148400432 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.733T>G;refseq.codonCoord=245;refseq.end=148400432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_024577;refseq.name2=SH3TC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W245G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=148400432;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 148401336 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.567A>C;refseq.codonCoord=189;refseq.end=148401336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_024577;refseq.name2=SH3TC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P189P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=38;refseq.start=148401336;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 148969315 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=3;HaplotypeScore=2.88;MQ=98.92;MQ0=0;OQ=18158.29;QD=43.44;RankSumP=1.00000;SB=-8298.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.322C>T;refseq.codonCoord=108;refseq.end=148969315;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_001001669;refseq.name2=FLJ41603;refseq.positionType=CDS;refseq.proteinCoordStr=p.L108L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=12;refseq.start=148969315;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr5 148986833 . C T 316.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1596.69;QD=40.94;RankSumP=1.00000;SB=-187.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1466C>T;refseq.codonCoord=489;refseq.end=148986833;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_001001669;refseq.name2=FLJ41603;refseq.positionType=CDS;refseq.proteinCoordStr=p.P489L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=148986833;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 148988596 . A G 414.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=99.00;MQ0=0;OQ=2144.74;QD=37.63;RankSumP=1.00000;SB=-965.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1692A>G;refseq.codonCoord=564;refseq.end=148988596;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1756;refseq.name=NM_001001669;refseq.name2=FLJ41603;refseq.positionType=CDS;refseq.proteinCoordStr=p.L564L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=32;refseq.start=148988596;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 148988714 . A G 371.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=96.83;MQ0=0;OQ=2615.91;QD=34.88;RankSumP=1.00000;SB=-1079.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1810A>G;refseq.codonCoord=604;refseq.end=148988714;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1874;refseq.name=NM_001001669;refseq.name2=FLJ41603;refseq.positionType=CDS;refseq.proteinCoordStr=p.M604V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=148988714;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 149196788 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2460A>C;refseq.codingCoordStr_2=c.2385A>C;refseq.codingCoordStr_3=c.2577A>C;refseq.codonCoord_1=820;refseq.codonCoord_2=795;refseq.codonCoord_3=859;refseq.end_1=149196788;refseq.end_2=149196788;refseq.end_3=149196788;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2551;refseq.mrnaCoord_2=2582;refseq.mrnaCoord_3=2668;refseq.name2_1=PPARGC1B;refseq.name2_2=PPARGC1B;refseq.name2_3=PPARGC1B;refseq.name_1=NM_001172698;refseq.name_2=NM_001172699;refseq.name_3=NM_133263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S820S;refseq.proteinCoordStr_2=p.S795S;refseq.proteinCoordStr_3=p.S859S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=149196788;refseq.start_2=149196788;refseq.start_3=149196788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr5 149196806 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.2478A>C;refseq.codingCoordStr_2=c.2403A>C;refseq.codingCoordStr_3=c.2595A>C;refseq.codonCoord_1=826;refseq.codonCoord_2=801;refseq.codonCoord_3=865;refseq.end_1=149196806;refseq.end_2=149196806;refseq.end_3=149196806;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2569;refseq.mrnaCoord_2=2600;refseq.mrnaCoord_3=2686;refseq.name2_1=PPARGC1B;refseq.name2_2=PPARGC1B;refseq.name2_3=PPARGC1B;refseq.name_1=NM_001172698;refseq.name_2=NM_001172699;refseq.name_3=NM_133263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S826S;refseq.proteinCoordStr_2=p.S801S;refseq.proteinCoordStr_3=p.S865S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=149196806;refseq.start_2=149196806;refseq.start_3=149196806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr5 149303965 . G A 170.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.82;MQ0=0;OQ=1226.88;QD=15.93;RankSumP=0.224829;SB=-175.63;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=149303965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_000440;refseq.name2=PDE6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N155N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=149303965;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 149304099 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=99.00;MQ0=0;OQ=1934.89;QD=11.66;RankSumP=0.102846;SB=-897.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.331A>C;refseq.codonCoord=111;refseq.end=149304099;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_000440;refseq.name2=PDE6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R111R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-144;refseq.start=149304099;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr5 149340373 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1024G>C;refseq.codonCoord=342;refseq.end=149340373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_000112;refseq.name2=SLC26A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A342P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=325;refseq.start=149340373;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr5 149341070 . T C 445.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.52;MQ0=0;OQ=6448.91;QD=41.08;RankSumP=1.00000;SB=-2213.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1721T>C;refseq.codonCoord=574;refseq.end=149341070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1989;refseq.name=NM_000112;refseq.name2=SLC26A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I574T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1022;refseq.start=149341070;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr5 149354703 . C T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=2.28780e-06;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1402G>A;refseq.codonCoord=468;refseq.end=149354703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_030953;refseq.name2=TIGD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E468K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1483;refseq.start=149354703;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 149355074 . T G 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.461435;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1031A>C;refseq.codonCoord=344;refseq.end=149355074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_030953;refseq.name2=TIGD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q344P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1112;refseq.start=149355074;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr5 149355075 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.561029;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1030C>T;refseq.codonCoord=344;refseq.end=149355075;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_030953;refseq.name2=TIGD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q344*;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1111;refseq.start=149355075;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr5 149355125 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=409;Dels=0.00;HRun=1;HaplotypeScore=11.71;MQ=95.73;MQ0=0;OQ=15744.26;QD=38.49;RankSumP=1.00000;SB=-7523.73;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.980A>G;refseq.codonCoord=327;refseq.end=149355125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_030953;refseq.name2=TIGD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q327R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1061;refseq.start=149355125;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr5 149415801 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=15.28;MQ=98.73;MQ0=0;OQ=3878.48;QD=22.04;RankSumP=0.0662629;SB=-1079.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2535C>G;refseq.codonCoord=845;refseq.end=149415801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2827;refseq.name=NM_005211;refseq.name2=CSF1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L845L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-20;refseq.start=149415801;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr5 149437871 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=668;Dels=0.00;HRun=0;HaplotypeScore=19.15;MQ=98.93;MQ0=0;OQ=14077.52;QD=21.07;RankSumP=0.00298704;SB=-5588.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.726C>T;refseq.codonCoord=242;refseq.end=149437871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_005211;refseq.name2=CSF1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T242T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=149437871;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 1/0 chr5 149440746 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=3;HaplotypeScore=8.24;MQ=98.69;MQ0=0;OQ=4421.78;QD=22.11;RankSumP=0.438102;SB=-1681.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.84T>C;refseq.codonCoord=28;refseq.end=149440746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_005211;refseq.name2=CSF1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.P28P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=35;refseq.start=149440746;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr5 149479836 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2630A>C;refseq.codonCoord=877;refseq.end=149479836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3099;refseq.name=NM_002609;refseq.name2=PDGFRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N877T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=44;refseq.start=149479836;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 149542671 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr5;refseq.codingCoordStr=c.591+2;refseq.end=149542671;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001804;refseq.name2=CDX1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=149542671;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr5 149563493 . T C 347.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.25;MQ0=0;OQ=6406.17;QD=38.59;RankSumP=1.00000;SB=-2661.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1158T>C;refseq.codonCoord=386;refseq.end=149563493;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1529;refseq.name=NM_014228;refseq.name2=SLC6A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F386F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-43;refseq.start=149563493;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr5 149563529 . T C 229.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=98.65;MQ0=0;OQ=3504.53;QD=36.89;RankSumP=1.00000;SB=-762.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1194T>C;refseq.codonCoord=398;refseq.end=149563529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1565;refseq.name=NM_014228;refseq.name2=SLC6A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D398D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=149563529;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr5 149564307 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=159;Dels=0.00;HRun=2;HaplotypeScore=15.19;MQ=96.67;MQ0=0;OQ=127.39;QD=0.80;RankSumP=0.00000;SB=188.62;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1352T>G;refseq.codonCoord=451;refseq.end=149564307;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1723;refseq.name=NM_014228;refseq.name2=SLC6A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V451G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=20;refseq.start=149564307;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr5 149565218 . A C 324.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=95.80;MQ0=0;OQ=8283.34;QD=41.01;RankSumP=1.00000;SB=-2717.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1540A>C;refseq.codonCoord=514;refseq.end=149565218;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1911;refseq.name=NM_014228;refseq.name2=SLC6A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.M514L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=149565218;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 149582801 . A G 147.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.65;MQ0=0;OQ=1967.38;QD=29.81;RankSumP=1.00000;SB=-600.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1410T>C;refseq.codingCoordStr_2=c.1377T>C;refseq.codonCoord_1=470;refseq.codonCoord_2=459;refseq.end_1=149582801;refseq.end_2=149582801;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1625;refseq.mrnaCoord_2=1592;refseq.name2_1=CAMK2A;refseq.name2_2=CAMK2A;refseq.name_1=NM_015981;refseq.name_2=NM_171825;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D470D;refseq.proteinCoordStr_2=p.D459D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=149582801;refseq.start_2=149582801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr5 149658044 . A G 110.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=97.41;MQ0=0;OQ=1242.89;QD=31.07;RankSumP=1.00000;SB=-282.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.636T>C;refseq.codonCoord=212;refseq.end=149658044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_001012301;refseq.name2=ARSI;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y212Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=325;refseq.start=149658044;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr5 149749767 . A C 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500001;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.2940A>C;refseq.codingCoordStr_2=c.3171A>C;refseq.codingCoordStr_3=c.3171A>C;refseq.codingCoordStr_4=c.3171A>C;refseq.codingCoordStr_5=c.2940A>C;refseq.codonCoord_1=980;refseq.codonCoord_2=1057;refseq.codonCoord_3=1057;refseq.codonCoord_4=1057;refseq.codonCoord_5=980;refseq.end_1=149749767;refseq.end_2=149749767;refseq.end_3=149749767;refseq.end_4=149749767;refseq.end_5=149749767;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3048;refseq.mrnaCoord_2=3279;refseq.mrnaCoord_3=3279;refseq.mrnaCoord_4=3279;refseq.mrnaCoord_5=3048;refseq.name2_1=TCOF1;refseq.name2_2=TCOF1;refseq.name2_3=TCOF1;refseq.name2_4=TCOF1;refseq.name2_5=TCOF1;refseq.name_1=NM_000356;refseq.name_2=NM_001008656;refseq.name_3=NM_001135243;refseq.name_4=NM_001135244;refseq.name_5=NM_001135245;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G980G;refseq.proteinCoordStr_2=p.G1057G;refseq.proteinCoordStr_3=p.G1057G;refseq.proteinCoordStr_4=p.G1057G;refseq.proteinCoordStr_5=p.G980G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.spliceDist_5=-13;refseq.start_1=149749767;refseq.start_2=149749767;refseq.start_3=149749767;refseq.start_4=149749767;refseq.start_5=149749767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;set=soap GT 0/1 chr5 149753161 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.3403A>C;refseq.codingCoordStr_2=c.3520A>C;refseq.codingCoordStr_3=c.3634A>C;refseq.codingCoordStr_4=c.3523A>C;refseq.codingCoordStr_5=c.3406A>C;refseq.codonCoord_1=1135;refseq.codonCoord_2=1174;refseq.codonCoord_3=1212;refseq.codonCoord_4=1175;refseq.codonCoord_5=1136;refseq.end_1=149753161;refseq.end_2=149753161;refseq.end_3=149753161;refseq.end_4=149753161;refseq.end_5=149753161;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3511;refseq.mrnaCoord_2=3628;refseq.mrnaCoord_3=3742;refseq.mrnaCoord_4=3631;refseq.mrnaCoord_5=3514;refseq.name2_1=TCOF1;refseq.name2_2=TCOF1;refseq.name2_3=TCOF1;refseq.name2_4=TCOF1;refseq.name2_5=TCOF1;refseq.name_1=NM_000356;refseq.name_2=NM_001008656;refseq.name_3=NM_001135243;refseq.name_4=NM_001135244;refseq.name_5=NM_001135245;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T1135P;refseq.proteinCoordStr_2=p.T1174P;refseq.proteinCoordStr_3=p.T1212P;refseq.proteinCoordStr_4=p.T1175P;refseq.proteinCoordStr_5=p.T1136P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.spliceDist_5=34;refseq.start_1=149753161;refseq.start_2=149753161;refseq.start_3=149753161;refseq.start_4=149753161;refseq.start_5=149753161;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr5 149756425 . C T 324.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2053.61;QD=36.67;RankSumP=1.00000;SB=-432.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.3938C>T;refseq.codingCoordStr_2=c.4055C>T;refseq.codingCoordStr_3=c.4169C>T;refseq.codingCoordStr_4=c.4058C>T;refseq.codingCoordStr_5=c.3941C>T;refseq.codonCoord_1=1313;refseq.codonCoord_2=1352;refseq.codonCoord_3=1390;refseq.codonCoord_4=1353;refseq.codonCoord_5=1314;refseq.end_1=149756425;refseq.end_2=149756425;refseq.end_3=149756425;refseq.end_4=149756425;refseq.end_5=149756425;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4046;refseq.mrnaCoord_2=4163;refseq.mrnaCoord_3=4277;refseq.mrnaCoord_4=4166;refseq.mrnaCoord_5=4049;refseq.name2_1=TCOF1;refseq.name2_2=TCOF1;refseq.name2_3=TCOF1;refseq.name2_4=TCOF1;refseq.name2_5=TCOF1;refseq.name_1=NM_000356;refseq.name_2=NM_001008656;refseq.name_3=NM_001135243;refseq.name_4=NM_001135244;refseq.name_5=NM_001135245;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A1313V;refseq.proteinCoordStr_2=p.A1352V;refseq.proteinCoordStr_3=p.A1390V;refseq.proteinCoordStr_4=p.A1353V;refseq.proteinCoordStr_5=p.A1314V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.spliceDist_1=-174;refseq.spliceDist_2=-174;refseq.spliceDist_3=-174;refseq.spliceDist_4=-174;refseq.spliceDist_5=-174;refseq.start_1=149756425;refseq.start_2=149756425;refseq.start_3=149756425;refseq.start_4=149756425;refseq.start_5=149756425;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;set=Intersection GT 1/1 chr5 149756548 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.95;MQ0=0;OQ=1831.45;QD=24.10;RankSumP=0.108665;SB=-693.65;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.4061G>C;refseq.codingCoordStr_2=c.4178G>C;refseq.codingCoordStr_3=c.4292G>C;refseq.codingCoordStr_4=c.4181G>C;refseq.codingCoordStr_5=c.4064G>C;refseq.codonCoord_1=1354;refseq.codonCoord_2=1393;refseq.codonCoord_3=1431;refseq.codonCoord_4=1394;refseq.codonCoord_5=1355;refseq.end_1=149756548;refseq.end_2=149756548;refseq.end_3=149756548;refseq.end_4=149756548;refseq.end_5=149756548;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4169;refseq.mrnaCoord_2=4286;refseq.mrnaCoord_3=4400;refseq.mrnaCoord_4=4289;refseq.mrnaCoord_5=4172;refseq.name2_1=TCOF1;refseq.name2_2=TCOF1;refseq.name2_3=TCOF1;refseq.name2_4=TCOF1;refseq.name2_5=TCOF1;refseq.name_1=NM_000356;refseq.name_2=NM_001008656;refseq.name_3=NM_001135243;refseq.name_4=NM_001135244;refseq.name_5=NM_001135245;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G1354A;refseq.proteinCoordStr_2=p.G1393A;refseq.proteinCoordStr_3=p.G1431A;refseq.proteinCoordStr_4=p.G1394A;refseq.proteinCoordStr_5=p.G1355A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.spliceDist_5=-51;refseq.start_1=149756548;refseq.start_2=149756548;refseq.start_3=149756548;refseq.start_4=149756548;refseq.start_5=149756548;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;set=Intersection GT 0/1 chr5 149806719 . C T 135.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=97.96;MQ0=0;OQ=18725.02;QD=42.95;RankSumP=1.00000;SB=-8174.01;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.150G>A;refseq.codingCoordStr_2=c.150G>A;refseq.codingCoordStr_3=c.150G>A;refseq.codonCoord_1=50;refseq.codonCoord_2=50;refseq.codonCoord_3=50;refseq.end_1=149806719;refseq.end_2=149806719;refseq.end_3=149806719;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=417;refseq.mrnaCoord_2=423;refseq.mrnaCoord_3=206;refseq.name2_1=RPS14;refseq.name2_2=RPS14;refseq.name2_3=RPS14;refseq.name_1=NM_001025070;refseq.name_2=NM_001025071;refseq.name_3=NM_005617;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K50K;refseq.proteinCoordStr_2=p.K50K;refseq.proteinCoordStr_3=p.K50K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=149806719;refseq.start_2=149806719;refseq.start_3=149806719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/1 chr5 149887726 . T G 297.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=6.48;MQ=97.99;MQ0=0;OQ=2347.75;QD=17.14;RankSumP=0.385401;SB=-807.75;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.681T>G;refseq.codonCoord=227;refseq.end=149887726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_001543;refseq.name2=NDST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V227V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=168;refseq.start=149887726;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr5 149887795 . A G 133.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=97.45;MQ0=0;OQ=1103.29;QD=13.29;RankSumP=0.194463;SB=-452.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.750A>G;refseq.codonCoord=250;refseq.end=149887795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_001543;refseq.name2=NDST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P250P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=237;refseq.start=149887795;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr5 149899932 . G C 141.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=7.42;MQ=98.83;MQ0=0;OQ=3076.66;QD=17.58;RankSumP=0.232874;SB=-692.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1662G>C;refseq.codonCoord=554;refseq.end=149899932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2164;refseq.name=NM_001543;refseq.name2=NDST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T554T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-88;refseq.start=149899932;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr5 150032151 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=2.74;MQ=97.73;MQ0=0;OQ=3687.87;QD=35.80;RankSumP=1.00000;SB=-542.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.481T>C;refseq.codingCoordStr_2=c.481T>C;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=150032151;refseq.end_2=150032151;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1068;refseq.mrnaCoord_2=720;refseq.name2_1=MYOZ3;refseq.name2_2=MYOZ3;refseq.name_1=NM_001122853;refseq.name_2=NM_133371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S161P;refseq.proteinCoordStr_2=p.S161P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=150032151;refseq.start_2=150032151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr5 150256151 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=560;Dels=0.00;HRun=2;HaplotypeScore=4.28;MQ=98.84;MQ0=0;OQ=10664.86;QD=19.04;RankSumP=0.408759;SB=-3959.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.891G>A;refseq.codingCoordStr_2=c.735G>A;refseq.codingCoordStr_3=c.843G>A;refseq.codonCoord_1=297;refseq.codonCoord_2=245;refseq.codonCoord_3=281;refseq.end_1=150256151;refseq.end_2=150256151;refseq.end_3=150256151;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1222;refseq.mrnaCoord_3=1264;refseq.name2_1=ZNF300;refseq.name2_2=ZNF300;refseq.name2_3=ZNF300;refseq.name_1=NM_001172831;refseq.name_2=NM_001172832;refseq.name_3=NM_052860;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K297K;refseq.proteinCoordStr_2=p.K245K;refseq.proteinCoordStr_3=p.K281K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=578;refseq.spliceDist_2=578;refseq.spliceDist_3=578;refseq.start_1=150256151;refseq.start_2=150256151;refseq.start_3=150256151;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr5 150619602 . A G 214.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=98.36;MQ0=0;OQ=2035.24;QD=13.94;RankSumP=0.279256;SB=-864.22;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.175A>G;refseq.codingCoordStr_2=c.175A>G;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=150619602;refseq.end_2=150619602;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=340;refseq.mrnaCoord_2=340;refseq.name2_1=GM2A;refseq.name2_2=GM2A;refseq.name_1=NM_000405;refseq.name_2=NM_001167607;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I59V;refseq.proteinCoordStr_2=p.I59V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.start_1=150619602;refseq.start_2=150619602;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr5 150619632 . A G 156.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.75;MQ0=0;OQ=1935.25;QD=13.53;RankSumP=0.202892;SB=-883.27;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.205A>G;refseq.codingCoordStr_2=c.205A>G;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=150619632;refseq.end_2=150619632;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=370;refseq.name2_1=GM2A;refseq.name2_2=GM2A;refseq.name_1=NM_000405;refseq.name_2=NM_001167607;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M69V;refseq.proteinCoordStr_2=p.M69V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=150619632;refseq.start_2=150619632;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr5 150627081 . T C 233.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=12.90;MQ=98.15;MQ0=0;OQ=6341.59;QD=18.43;RankSumP=0.0888982;SB=-2505.79;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.458T>C;refseq.codonCoord_2=153;refseq.end_1=150627235;refseq.end_2=150627081;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=623;refseq.name2_1=GM2A;refseq.name2_2=GM2A;refseq.name_1=NM_001167607;refseq.name_2=NM_000405;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V153A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=32;refseq.start_1=150626664;refseq.start_2=150627081;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr5 150655994 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.26;MQ0=0;OQ=2044.43;QD=18.25;RankSumP=0.263697;SB=-1047.78;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.248G>A;refseq.codingCoordStr_2=c.248G>A;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=150655994;refseq.end_2=150655994;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=667;refseq.mrnaCoord_2=667;refseq.name2_1=SLC36A3;refseq.name2_2=SLC36A3;refseq.name_1=NM_001145017;refseq.name_2=NM_181774;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G83E;refseq.proteinCoordStr_2=p.G83E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=150655994;refseq.start_2=150655994;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr5 150676640 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=95.77;MQ0=0;OQ=1462.82;QD=16.07;RankSumP=0.465493;SB=-723.67;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1383G>A;refseq.codonCoord=461;refseq.end=150676640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_181776;refseq.name2=SLC36A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q461Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=203;refseq.start=150676640;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr5 150676691 . G A 129.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=82.16;MQ0=1;OQ=1962.93;QD=14.02;RankSumP=0.0120952;SB=-987.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1332C>T;refseq.codonCoord=444;refseq.end=150676691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1462;refseq.name=NM_181776;refseq.name2=SLC36A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D444D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=152;refseq.start=150676691;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr5 150676733 . C T 186.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=83.39;MQ0=2;OQ=2018.90;QD=15.53;RankSumP=0.136834;SB=-994.95;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1290G>A;refseq.codonCoord=430;refseq.end=150676733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_181776;refseq.name2=SLC36A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T430T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=110;refseq.start=150676733;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr5 150703999 . G A 170.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=98.64;MQ0=0;OQ=5143.86;QD=22.76;RankSumP=0.263962;SB=-1475.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.187C>T;refseq.codonCoord=63;refseq.end=150703999;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_181776;refseq.name2=SLC36A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L63L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=23;refseq.start=150703999;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr5 150865340 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.13029C>G;refseq.codonCoord=4343;refseq.end=150865340;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13042;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4343R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=512;refseq.start=150865340;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr5 150866918 . G A 311.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.72;MQ0=0;OQ=13767.03;QD=40.25;RankSumP=1.00000;SB=-4247.11;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.12507C>T;refseq.codonCoord=4169;refseq.end=150866918;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12520;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4169S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-11;refseq.start=150866918;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr5 150867075 . G A 354.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=8.96;MQ=98.63;MQ0=0;OQ=6710.78;QD=19.62;RankSumP=0.120612;SB=-2703.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.12350C>T;refseq.codonCoord=4117;refseq.end=150867075;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12363;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4117L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-168;refseq.start=150867075;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr5 150871926 . A G 223.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.68;MQ0=0;OQ=1931.88;QD=32.20;RankSumP=1.00000;SB=-454.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.11898T>C;refseq.codonCoord=3966;refseq.end=150871926;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11911;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3966H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=150871926;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr5 150877429 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.11408T>C;refseq.codonCoord=3803;refseq.end=150877429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11421;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3803P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-56;refseq.start=150877429;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 150881304 . A G 137.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.57;MQ0=0;OQ=5712.30;QD=25.16;RankSumP=1.00000;SB=-903.86;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.11043T>C;refseq.codonCoord=3681;refseq.end=150881304;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11056;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3681D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-275;refseq.start=150881304;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr5 150881454 . C T 429.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=3.19;MQ=98.56;MQ0=0;OQ=6894.50;QD=37.67;RankSumP=1.00000;SB=-2702.02;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.10893G>A;refseq.codonCoord=3631;refseq.end=150881454;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10906;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M3631I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=387;refseq.start=150881454;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr5 150881493 . G A 180.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=14.81;MQ=98.47;MQ0=0;OQ=10013.82;QD=39.90;RankSumP=1.00000;SB=-4622.50;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.10854C>T;refseq.codonCoord=3618;refseq.end=150881493;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10867;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y3618Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=348;refseq.start=150881493;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr5 150881790 . G C 230.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.44;MQ0=0;OQ=2209.96;QD=16.13;RankSumP=0.116112;SB=-515.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.10557C>G;refseq.codonCoord=3519;refseq.end=150881790;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10570;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3519V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=51;refseq.start=150881790;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr5 150881806 . A G 400.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.61;MQ0=0;OQ=4192.78;QD=35.84;RankSumP=1.00000;SB=-1194.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.10541T>C;refseq.codonCoord=3514;refseq.end=150881806;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10554;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3514S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=35;refseq.start=150881806;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 150881823 . G T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.69;MQ0=0;OQ=813.22;QD=9.92;RankSumP=0.377893;SB=-88.61;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.10524C>A;refseq.codonCoord=3508;refseq.end=150881823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10537;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I3508I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=18;refseq.start=150881823;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr5 150885591 . C T 299.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=471;Dels=0.00;HRun=0;HaplotypeScore=13.41;MQ=98.86;MQ0=0;OQ=7899.68;QD=16.77;RankSumP=0.474712;SB=-2010.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.10437G>A;refseq.codonCoord=3479;refseq.end=150885591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10450;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3479P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-70;refseq.start=150885591;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr5 150889006 . G A 257.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=490;Dels=0.00;HRun=0;HaplotypeScore=8.72;MQ=98.85;MQ0=0;OQ=10099.63;QD=20.61;RankSumP=0.106323;SB=-3795.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.9952C>T;refseq.codonCoord=3318;refseq.end=150889006;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9965;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3318W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-75;refseq.start=150889006;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr5 150894249 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.9341T>C;refseq.codonCoord=3114;refseq.end=150894249;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9354;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F3114S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-87;refseq.start=150894249;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr5 150894377 . A T 307.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=475;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=98.87;MQ0=0;OQ=7587.85;QD=15.97;RankSumP=0.355491;SB=-1390.28;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.9213T>A;refseq.codonCoord=3071;refseq.end=150894377;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9226;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3071T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=20;refseq.start=150894377;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr5 150903598 . A G 301.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=6.44;MQ=98.72;MQ0=0;OQ=5860.79;QD=40.42;RankSumP=1.00000;SB=-2757.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.7283T>C;refseq.codonCoord=2428;refseq.end=150903598;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7296;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F2428S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-1560;refseq.start=150903598;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr5 150905337 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=3;HaplotypeScore=8.30;MQ=98.92;MQ0=0;OQ=14632.21;QD=38.92;RankSumP=1.00000;SB=-6501.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5544T>C;refseq.codonCoord=1848;refseq.end=150905337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5557;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1848P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=755;refseq.start=150905337;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr5 150905670 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.5211T>G;refseq.codonCoord=1737;refseq.end=150905670;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5224;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1737G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=422;refseq.start=150905670;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 150923112 . A G 229.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=1;HaplotypeScore=8.35;MQ=98.70;MQ0=0;OQ=12480.61;QD=41.74;RankSumP=1.00000;SB=-4736.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3541T>C;refseq.codonCoord=1181;refseq.end=150923112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3554;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1181H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-34;refseq.start=150923112;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr5 150926122 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2564T>G;refseq.codonCoord=855;refseq.end=150926122;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2577;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V855G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-696;refseq.start=150926122;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr5 150926492 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2194A>C;refseq.codonCoord=732;refseq.end=150926492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2207;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T732P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1066;refseq.start=150926492;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 150927159 . G A 278.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=98.96;MQ0=0;OQ=11699.67;QD=43.49;RankSumP=1.00000;SB=-4824.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1527C>T;refseq.codonCoord=509;refseq.end=150927159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_001447;refseq.name2=FAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P509P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=1540;refseq.start=150927159;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr5 151034420 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.96;MQ0=0;OQ=1720.51;QD=12.20;RankSumP=0.170815;SB=-625.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.66A>G;refseq.codonCoord=22;refseq.end=151034420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_003118;refseq.name2=SPARC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E22E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=151034420;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr5 151246541 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.186T>G;refseq.codingCoordStr_2=c.186T>G;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=151246541;refseq.end_2=151246541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=473;refseq.mrnaCoord_2=473;refseq.name2_1=GLRA1;refseq.name2_2=GLRA1;refseq.name_1=NM_000171;refseq.name_2=NM_001146040;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G62G;refseq.proteinCoordStr_2=p.G62G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=151246541;refseq.start_2=151246541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr5 151752010 . C T 90.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=395;Dels=0.00;HRun=1;HaplotypeScore=9.16;MQ=98.73;MQ0=0;OQ=16518.98;QD=41.82;RankSumP=1.00000;SB=-7624.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1183G>A;refseq.codonCoord=395;refseq.end=151752010;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A395T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=246;refseq.start=151752010;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 151752031 . T C 214.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=17.13;MQ=98.75;MQ0=0;OQ=6134.49;QD=16.02;RankSumP=0.375283;SB=-1931.46;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1162A>G;refseq.codonCoord=388;refseq.end=151752031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1328;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M388V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=225;refseq.start=151752031;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr5 151752045 . G A 324.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=12.27;MQ=98.86;MQ0=0;OQ=6230.07;QD=17.35;RankSumP=0.376115;SB=-1901.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1148C>T;refseq.codonCoord=383;refseq.end=151752045;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P383L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=211;refseq.start=151752045;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr5 151752248 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1522.70;QD=12.80;RankSumP=0.309567;SB=-530.76;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.945C>A;refseq.codonCoord=315;refseq.end=151752248;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F315L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=151752248;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr5 151755257 . C G 109.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=11.79;MQ=98.61;MQ0=0;OQ=11202.42;QD=24.95;RankSumP=0.0354005;SB=-4176.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.893G>C;refseq.codonCoord=298;refseq.end=151755257;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S298T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-45;refseq.start=151755257;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr5 151764376 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.91;MQ0=0;OQ=1436.16;QD=14.22;RankSumP=0.313793;SB=-27.58;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=151764376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_020167;refseq.name2=NMUR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L164L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-235;refseq.start=151764376;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr5 153010137 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.515T>G;refseq.codingCoordStr_2=c.515T>G;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=153010137;refseq.end_2=153010137;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=880;refseq.name2_1=GRIA1;refseq.name2_2=GRIA1;refseq.name_1=NM_000827;refseq.name_2=NM_001114183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V172G;refseq.proteinCoordStr_2=p.V172G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=153010137;refseq.start_2=153010137;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr5 153010153 . T C 362.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=6.04;MQ=97.55;MQ0=0;OQ=5210.59;QD=19.59;RankSumP=0.450421;SB=-1602.26;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.531T>C;refseq.codingCoordStr_2=c.531T>C;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=153010153;refseq.end_2=153010153;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=896;refseq.mrnaCoord_2=896;refseq.name2_1=GRIA1;refseq.name2_2=GRIA1;refseq.name_1=NM_000827;refseq.name_2=NM_001114183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I177I;refseq.proteinCoordStr_2=p.I177I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=153010153;refseq.start_2=153010153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr5 153010221 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.599T>G;refseq.codingCoordStr_2=c.599T>G;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=153010221;refseq.end_2=153010221;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=964;refseq.name2_1=GRIA1;refseq.name2_2=GRIA1;refseq.name_1=NM_000827;refseq.name_2=NM_001114183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V200G;refseq.proteinCoordStr_2=p.V200G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=153010221;refseq.start_2=153010221;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr5 153393583 . C T 305.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.87;MQ0=0;OQ=5511.04;QD=18.25;RankSumP=0.150759;SB=-2156.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.364G>A;refseq.codonCoord=122;refseq.end=153393583;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_018691;refseq.name2=FAM114A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G122S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-40;refseq.start=153393583;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr5 153409652 . T C 140.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=4.45;MQ=98.52;MQ0=0;OQ=2845.59;QD=14.09;RankSumP=0.484024;SB=-1114.72;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_3=c.177T>C;refseq.codonCoord_3=59;refseq.end_1=153412662;refseq.end_2=153409652;refseq.end_3=153409652;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=693;refseq.mrnaCoord_3=396;refseq.name2_1=MFAP3;refseq.name2_2=MFAP3;refseq.name2_3=MFAP3;refseq.name_1=NM_001135037;refseq.name_2=NR_024152;refseq.name_3=NM_005927;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D59D;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAT;refseq.spliceDist_2=-119;refseq.spliceDist_3=-119;refseq.start_1=153398775;refseq.start_2=153409652;refseq.start_3=153409652;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr5 153412926 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.95;MQ0=0;OQ=4829.48;QD=24.52;RankSumP=0.488824;SB=-1737.02;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.111T>C;refseq.codingCoordStr_3=c.549T>C;refseq.codonCoord_2=37;refseq.codonCoord_3=183;refseq.end_1=153412926;refseq.end_2=153412926;refseq.end_3=153412926;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=307;refseq.mrnaCoord_3=768;refseq.name2_1=MFAP3;refseq.name2_2=MFAP3;refseq.name2_3=MFAP3;refseq.name_1=NR_024152;refseq.name_2=NM_001135037;refseq.name_3=NM_005927;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A37A;refseq.proteinCoordStr_3=p.A183A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=254;refseq.spliceDist_2=254;refseq.spliceDist_3=254;refseq.start_1=153412926;refseq.start_2=153412926;refseq.start_3=153412926;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr5 153413163 . C T 335.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.82;MQ0=0;OQ=5834.78;QD=19.51;RankSumP=0.216758;SB=-2020.44;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.348C>T;refseq.codingCoordStr_3=c.786C>T;refseq.codonCoord_2=116;refseq.codonCoord_3=262;refseq.end_1=153413163;refseq.end_2=153413163;refseq.end_3=153413163;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1302;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=1005;refseq.name2_1=MFAP3;refseq.name2_2=MFAP3;refseq.name2_3=MFAP3;refseq.name_1=NR_024152;refseq.name_2=NM_001135037;refseq.name_3=NM_005927;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D116D;refseq.proteinCoordStr_3=p.D262D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=491;refseq.spliceDist_2=491;refseq.spliceDist_3=491;refseq.start_1=153413163;refseq.start_2=153413163;refseq.start_3=153413163;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr5 153776678 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.778T>G;refseq.codingCoordStr_2=c.1765T>G;refseq.codonCoord_1=260;refseq.codonCoord_2=589;refseq.end_1=153776678;refseq.end_2=153776678;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1036;refseq.mrnaCoord_2=1897;refseq.name2_1=GALNT10;refseq.name2_2=GALNT10;refseq.name_1=NM_017540;refseq.name_2=NM_198321;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F260V;refseq.proteinCoordStr_2=p.F589V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.start_1=153776678;refseq.start_2=153776678;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/0 chr5 154045576 . A T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=23;Dels=0.04;HRun=13;HaplotypeScore=6.27;MQ=99.00;MQ0=0;OQ=160.30;QD=6.97;RankSumP=0.221483;SB=-42.96;SecondBestBaseQ=32;set=soap-filterIngatk GT 0/1 chr5 154153451 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=4.91675e-05;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.612A>C;refseq.codonCoord=204;refseq.end=154153451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_015315;refseq.name2=LARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I204I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-26;refseq.start=154153451;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr5 154249095 . C T 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1221.59;QD=42.12;RankSumP=1.00000;SB=-546.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4338G>A;refseq.codonCoord=1446;refseq.end=154249095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4421;refseq.name=NM_015465;refseq.name2=GEMIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1446A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-22;refseq.start=154249095;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr5 154252141 . G A 399.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=2362.50;QD=40.73;RankSumP=1.00000;SB=-1012.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3759C>T;refseq.codonCoord=1253;refseq.end=154252141;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3842;refseq.name=NM_015465;refseq.name2=GEMIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1253D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=154252141;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr5 154271602 . C T 249.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=6.57;MQ=98.91;MQ0=0;OQ=7883.45;QD=42.38;RankSumP=1.00000;SB=-2532.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2045G>A;refseq.codonCoord=682;refseq.end=154271602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2128;refseq.name=NM_015465;refseq.name2=GEMIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R682Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=50;refseq.start=154271602;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr5 154281133 . A C 185.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.49;MQ0=0;OQ=18337.76;QD=37.27;RankSumP=1.00000;SB=-8135.92;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1425T>G;refseq.codonCoord=475;refseq.end=154281133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_015465;refseq.name2=GEMIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T475T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-38;refseq.start=154281133;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 154287165 . T C 363.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.71;MQ0=0;OQ=8549.23;QD=41.10;RankSumP=1.00000;SB=-3744.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1053A>G;refseq.codonCoord=351;refseq.end=154287165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_015465;refseq.name2=GEMIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L351L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-28;refseq.start=154287165;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 154326452 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=563;Dels=0.00;HRun=2;HaplotypeScore=29.00;MQ=98.69;MQ0=0;OQ=8881.06;QD=15.77;RankSumP=0.464773;SB=-1985.63;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.183A>G;refseq.codingCoordStr_2=c.423A>G;refseq.codonCoord_1=61;refseq.codonCoord_2=141;refseq.end_1=154326452;refseq.end_2=154326452;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=343;refseq.mrnaCoord_2=461;refseq.name2_1=MRPL22;refseq.name2_2=MRPL22;refseq.name_1=NM_001014990;refseq.name_2=NM_014180;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S61S;refseq.proteinCoordStr_2=p.S141S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=154326452;refseq.start_2=154326452;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr5 156309281 . A G 462.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.91;MQ0=0;OQ=5518.48;QD=40.28;RankSumP=1.00000;SB=-2159.99;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.719T>C;refseq.codingCoordStr_2=c.719T>C;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=156309281;refseq.end_2=156309281;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=776;refseq.mrnaCoord_2=776;refseq.name2_1=TIMD4;refseq.name2_2=TIMD4;refseq.name_1=NM_001146726;refseq.name_2=NM_138379;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V240A;refseq.proteinCoordStr_2=p.V240A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=156309281;refseq.start_2=156309281;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr5 156412002 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=966;Dels=0.00;HRun=1;HaplotypeScore=14.99;MQ=96.59;MQ0=0;OQ=38255.01;QD=39.60;RankSumP=1.00000;SB=-5390.50;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.621T>G;refseq.codingCoordStr_2=c.621T>G;refseq.codingCoordStr_3=c.621T>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.codonCoord_3=207;refseq.end_1=156412002;refseq.end_2=156412002;refseq.end_3=156412002;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=806;refseq.mrnaCoord_2=672;refseq.mrnaCoord_3=1154;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T207T;refseq.proteinCoordStr_2=p.T207T;refseq.proteinCoordStr_3=p.T207T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.start_1=156412002;refseq.start_2=156412002;refseq.start_3=156412002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr5 156412004 . T C 102.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1037;Dels=0.00;HRun=0;HaplotypeScore=24.03;MQ=96.61;MQ0=0;OQ=19892.96;QD=19.18;RankSumP=0.0735545;SB=-2957.18;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.619A>G;refseq.codingCoordStr_2=c.619A>G;refseq.codingCoordStr_3=c.619A>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.codonCoord_3=207;refseq.end_1=156412004;refseq.end_2=156412004;refseq.end_3=156412004;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=670;refseq.mrnaCoord_3=1152;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T207A;refseq.proteinCoordStr_2=p.T207A;refseq.proteinCoordStr_3=p.T207A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.start_1=156412004;refseq.start_2=156412004;refseq.start_3=156412004;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr5 156412087 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=3198;Dels=0.00;HRun=1;HaplotypeScore=33.26;MQ=96.82;MQ0=0;OQ=122150.47;QD=38.20;RankSumP=1.00000;SB=-55463.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.536T>C;refseq.codingCoordStr_2=c.536T>C;refseq.codingCoordStr_3=c.536T>C;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=156412087;refseq.end_2=156412087;refseq.end_3=156412087;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=587;refseq.mrnaCoord_3=1069;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L179P;refseq.proteinCoordStr_2=p.L179P;refseq.proteinCoordStr_3=p.L179P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-138;refseq.spliceDist_2=-138;refseq.spliceDist_3=-138;refseq.start_1=156412087;refseq.start_2=156412087;refseq.start_3=156412087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=soap-filterIngatk GT 1/1 chr5 156412146 . C T 45 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.000684014;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.477G>A;refseq.codingCoordStr_2=c.477G>A;refseq.codingCoordStr_3=c.477G>A;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.codonCoord_3=159;refseq.end_1=156412146;refseq.end_2=156412146;refseq.end_3=156412146;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=662;refseq.mrnaCoord_2=528;refseq.mrnaCoord_3=1010;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T159T;refseq.proteinCoordStr_2=p.T159T;refseq.proteinCoordStr_3=p.T159T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.start_1=156412146;refseq.start_2=156412146;refseq.start_3=156412146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=FilteredInAll GT 0/1 chr5 156412150 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.473T>C;refseq.codingCoordStr_2=c.473T>C;refseq.codingCoordStr_3=c.473T>C;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.codonCoord_3=158;refseq.end_1=156412150;refseq.end_2=156412150;refseq.end_3=156412150;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=658;refseq.mrnaCoord_2=524;refseq.mrnaCoord_3=1006;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M158T;refseq.proteinCoordStr_2=p.M158T;refseq.proteinCoordStr_3=p.M158T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.start_1=156412150;refseq.start_2=156412150;refseq.start_3=156412150;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=soap GT 1/1 chr5 156415037 . G T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=9.06;MQ=95.27;MQ0=0;OQ=6092.53;QD=32.58;RankSumP=1.00000;SB=-2540.92;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.132C>A;refseq.codingCoordStr_2=c.132C>A;refseq.codingCoordStr_3=c.132C>A;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.end_1=156415037;refseq.end_2=156415037;refseq.end_3=156415037;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=317;refseq.mrnaCoord_2=183;refseq.mrnaCoord_3=665;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S44S;refseq.proteinCoordStr_2=p.S44S;refseq.proteinCoordStr_3=p.S44S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.spliceDist_3=86;refseq.start_1=156415037;refseq.start_2=156415037;refseq.start_3=156415037;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/1 chr5 156415067 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=3;RankSumP=0.154892;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.102A>C;refseq.codingCoordStr_2=c.102A>C;refseq.codingCoordStr_3=c.102A>C;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.codonCoord_3=34;refseq.end_1=156415067;refseq.end_2=156415067;refseq.end_3=156415067;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=287;refseq.mrnaCoord_2=153;refseq.mrnaCoord_3=635;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L34L;refseq.proteinCoordStr_2=p.L34L;refseq.proteinCoordStr_3=p.L34L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=156415067;refseq.start_2=156415067;refseq.start_3=156415067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=soap GT 1/0 chr5 156415082 . A C 40 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=2.31007e-05;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.87T>G;refseq.codingCoordStr_2=c.87T>G;refseq.codingCoordStr_3=c.87T>G;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.codonCoord_3=29;refseq.end_1=156415082;refseq.end_2=156415082;refseq.end_3=156415082;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=272;refseq.mrnaCoord_2=138;refseq.mrnaCoord_3=620;refseq.name2_1=HAVCR1;refseq.name2_2=HAVCR1;refseq.name2_3=HAVCR1;refseq.name_1=NM_001099414;refseq.name_2=NM_001173393;refseq.name_3=NM_012206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G29G;refseq.proteinCoordStr_2=p.G29G;refseq.proteinCoordStr_3=p.G29G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.start_1=156415082;refseq.start_2=156415082;refseq.start_3=156415082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr5 156464314 . C A 425.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.78;MQ0=0;OQ=3183.54;QD=39.30;RankSumP=1.00000;SB=-1159.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.419G>T;refseq.codonCoord=140;refseq.end=156464314;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_032782;refseq.name2=HAVCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R140L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=25;refseq.start=156464314;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 156523035 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.819A>G;refseq.codonCoord=273;refseq.end=156523035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_130899;refseq.name2=FAM71B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G273G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=213;refseq.start=156523035;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 156878427 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=90;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.08;MQ0=0;OQ=1801.55;QD=20.02;RankSumP=0.459559;SB=-907.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.648C>T;refseq.codonCoord=216;refseq.end=156878427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_033274;refseq.name2=ADAM19;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-19;refseq.start=156878427;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr5 156930565 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.96A>G;refseq.codonCoord=32;refseq.end=156930565;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=160;refseq.name=NM_033274;refseq.name2=ADAM19;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=156930565;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr5 157006325 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=20.61;MQ=98.72;MQ0=0;OQ=7114.51;QD=18.97;RankSumP=0.406697;SB=-2119.40;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1285C>A;refseq.codingCoordStr_2=c.1285C>A;refseq.codonCoord_1=429;refseq.codonCoord_2=429;refseq.end_1=157006325;refseq.end_2=157006325;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1627;refseq.mrnaCoord_2=1627;refseq.name2_1=SOX30;refseq.name2_2=SOX30;refseq.name_1=NM_007017;refseq.name_2=NM_178424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q429K;refseq.proteinCoordStr_2=p.Q429K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=157006325;refseq.start_2=157006325;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr5 157008424 . G A 115.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=8.34;MQ=97.28;MQ0=0;OQ=3202.60;QD=13.75;RankSumP=0.323089;SB=-1017.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1026C>T;refseq.codingCoordStr_2=c.1026C>T;refseq.codonCoord_1=342;refseq.codonCoord_2=342;refseq.end_1=157008424;refseq.end_2=157008424;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1368;refseq.mrnaCoord_2=1368;refseq.name2_1=SOX30;refseq.name2_2=SOX30;refseq.name_1=NM_007017;refseq.name_2=NM_178424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N342N;refseq.proteinCoordStr_2=p.N342N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=157008424;refseq.start_2=157008424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr5 157097540 . T C 226.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=1;HaplotypeScore=8.03;MQ=98.70;MQ0=0;OQ=11567.94;QD=37.68;RankSumP=1.00000;SB=-4880.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.695T>C;refseq.codonCoord=232;refseq.end=157097540;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_017872;refseq.name2=THG1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L232P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-41;refseq.start=157097540;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr5 158137003 . A G 270.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=98.76;MQ0=0;OQ=4664.70;QD=22.98;RankSumP=0.0360232;SB=-1705.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1032T>C;refseq.codonCoord=344;refseq.end=158137003;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_024007;refseq.name2=EBF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y344Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=158137003;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr5 158563219 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=11;RankSumP=0.0122168;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.69G>A;refseq.codonCoord=23;refseq.end=158563219;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_144726;refseq.name2=RNF145;refseq.positionType=CDS;refseq.proteinCoordStr=p.K23K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=24;refseq.start=158563219;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 159591851 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.70;MQ0=0;OQ=1376.51;QD=12.07;RankSumP=0.162471;SB=-294.71;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.383C>T;refseq.codingCoordStr_2=c.383C>T;refseq.codingCoordStr_3=c.236C>T;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.codonCoord_3=79;refseq.end_1=159591851;refseq.end_2=159591851;refseq.end_3=159591851;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=529;refseq.mrnaCoord_3=364;refseq.name2_1=FABP6;refseq.name2_2=FABP6;refseq.name2_3=FABP6;refseq.name_1=NM_001040442;refseq.name_2=NM_001130958;refseq.name_3=NM_001445;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T128M;refseq.proteinCoordStr_2=p.T128M;refseq.proteinCoordStr_3=p.T79M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=159591851;refseq.start_2=159591851;refseq.start_3=159591851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr5 159709215 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=96.92;MQ0=0;OQ=945.96;QD=14.12;RankSumP=0.256967;SB=-202.20;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.531G>A;refseq.codonCoord=177;refseq.end=159709215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_031908;refseq.name2=C1QTNF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K177K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=152;refseq.start=159709215;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr5 159768236 . A G 420.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4437.97;QD=38.59;RankSumP=1.00000;SB=-1696.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.686T>C;refseq.codonCoord=229;refseq.end=159768236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_006425;refseq.name2=SLU7;refseq.positionType=CDS;refseq.proteinCoordStr=p.M229T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=159768236;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr5 159781905 . C A 35.28 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=200;Dels=0.00;HRun=1;HaplotypeScore=15.65;MQ=98.09;MQ0=0;QD=0.18;RankSumP=0.00000;SB=137.48;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.8C>A;refseq.codonCoord=3;refseq.end=159781905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=53;refseq.name=NM_004219;refseq.name2=PTTG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=19;refseq.start=159781905;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr5 159844996 . C G 271.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.34;MQ0=0;OQ=5511.96;QD=47.52;RankSumP=1.00000;SB=-2375.49;SecondBestBaseQ=0;refseq.chr=chr5;refseq.end=159844996;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=60;refseq.name=NR_029701;refseq.name2=MIR146A;refseq.positionType=non_coding_exon;refseq.spliceDist=-40;refseq.start=159844996;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr5 159925233 . T C 185.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=1186.41;QD=16.03;RankSumP=0.438802;SB=-411.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4191A>G;refseq.codonCoord=1397;refseq.end=159925233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5038;refseq.name=NM_025153;refseq.name2=ATP10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1397V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=253;refseq.start=159925233;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr5 159925332 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=188;Dels=0.00;HRun=2;HaplotypeScore=30.90;MQ=97.24;MQ0=0;OQ=1780.55;QD=9.47;RankSumP=0.280074;SB=-540.87;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4092A>C;refseq.codonCoord=1364;refseq.end=159925332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4939;refseq.name=NM_025153;refseq.name2=ATP10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1364P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=154;refseq.start=159925332;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr5 160030074 . A G 419.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4471.21;QD=38.54;RankSumP=1.00000;SB=-1676.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.649T>C;refseq.codonCoord=217;refseq.end=160030074;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_025153;refseq.name2=ATP10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C217R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-27;refseq.start=160030074;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr5 160030210 . G A 130.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=6.45;MQ=98.75;MQ0=0;OQ=22738.66;QD=42.19;RankSumP=1.00000;SB=-10014.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.513C>T;refseq.codonCoord=171;refseq.end=160030210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1360;refseq.name=NM_025153;refseq.name2=ATP10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R171R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=43;refseq.start=160030210;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr5 160047476 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=205;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=98.54;MQ0=0;OQ=2823.18;QD=13.77;RankSumP=0.134863;SB=-937.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.184G>A;refseq.codonCoord=62;refseq.end=160047476;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_025153;refseq.name2=ATP10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V62I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-92;refseq.start=160047476;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 161045582 . G A 254.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=99.00;MQ0=0;OQ=7868.07;QD=18.96;RankSumP=0.311997;SB=-2954.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.9G>A;refseq.codonCoord=3;refseq.end=161045582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_000811;refseq.name2=GABRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-30;refseq.start=161045582;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr5 161051649 . G T 234.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=98.93;MQ0=0;OQ=12966.70;QD=40.02;RankSumP=1.00000;SB=-5861.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.951G>T;refseq.codonCoord=317;refseq.end=161051649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_000811;refseq.name2=GABRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A317A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=125;refseq.start=161051649;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr5 161051703 . C G 274.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=98.94;MQ0=0;OQ=7820.34;QD=21.37;RankSumP=0.342960;SB=-3094.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1005C>G;refseq.codonCoord=335;refseq.end=161051703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_000811;refseq.name2=GABRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A335A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-82;refseq.start=161051703;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr5 161061339 . C G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=8.11;MQ=98.79;MQ0=0;OQ=19630.48;QD=49.45;RankSumP=1.00000;SB=-9213.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1344C>G;refseq.codonCoord=448;refseq.end=161061339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1682;refseq.name=NM_000811;refseq.name2=GABRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V448V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=258;refseq.start=161061339;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 162823531 . G A 174.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.74;MQ0=0;OQ=1741.98;QD=37.87;RankSumP=1.00000;SB=-595.70;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.codingCoordStr_2=c.138G>A;refseq.codingCoordStr_3=c.138G>A;refseq.codingCoordStr_4=c.138G>A;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.codonCoord_4=46;refseq.end_1=162829214;refseq.end_2=162823531;refseq.end_3=162823531;refseq.end_4=162823531;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=320;refseq.mrnaCoord_3=320;refseq.mrnaCoord_4=320;refseq.name2_1=HMMR;refseq.name2_2=HMMR;refseq.name2_3=HMMR;refseq.name2_4=HMMR;refseq.name_1=NM_001142557;refseq.name_2=NM_001142556;refseq.name_3=NM_012484;refseq.name_4=NM_012485;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Q46Q;refseq.proteinCoordStr_3=p.Q46Q;refseq.proteinCoordStr_4=p.Q46Q;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.start_1=162820333;refseq.start_2=162823531;refseq.start_3=162823531;refseq.start_4=162823531;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 1/1 chr5 167824408 . T C 252.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=98.24;MQ0=0;OQ=2551.34;QD=14.92;RankSumP=0.00426846;SB=-1225.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.3031T>C;refseq.codingCoordStr_2=c.3031T>C;refseq.codingCoordStr_3=c.3013T>C;refseq.codonCoord_1=1011;refseq.codonCoord_2=1011;refseq.codonCoord_3=1005;refseq.end_1=167824408;refseq.end_2=167824408;refseq.end_3=167824408;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3124;refseq.mrnaCoord_2=3124;refseq.mrnaCoord_3=3106;refseq.name2_1=WWC1;refseq.name2_2=WWC1;refseq.name2_3=WWC1;refseq.name_1=NM_001161661;refseq.name_2=NM_001161662;refseq.name_3=NM_015238;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L1011L;refseq.proteinCoordStr_2=p.L1011L;refseq.proteinCoordStr_3=p.L1005L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.spliceDist_3=97;refseq.start_1=167824408;refseq.start_2=167824408;refseq.start_3=167824408;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=filterInsoap-gatk GT 1/0 chr5 167846088 . G A 87.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.54;MQ0=0;OQ=177.72;QD=13.67;RankSumP=0.585714;SB=-109.60;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.7G>A;refseq.codonCoord=3;refseq.end=167846088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_002887;refseq.name2=RARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-39;refseq.start=167846088;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr5 167846099 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.166667;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.18T>C;refseq.codonCoord=6;refseq.end=167846099;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_002887;refseq.name2=RARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S6S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-28;refseq.start=167846099;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr5 167876405 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=872;Dels=0.00;HRun=0;HaplotypeScore=26.26;MQ=98.78;MQ0=0;OQ=17221.12;QD=19.75;RankSumP=0.00391034;SB=-6667.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1497G>A;refseq.codonCoord=499;refseq.end=167876405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1538;refseq.name=NM_002887;refseq.name2=RARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A499A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=45;refseq.start=167876405;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr5 168030813 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=98.31;MQ0=0;OQ=858.20;QD=12.81;RankSumP=0.355778;SB=-400.91;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.4095T>C;refseq.codonCoord=1365;refseq.end=168030813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4515;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1365D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-33;refseq.start=168030813;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr5 168031041 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.15;MQ0=0;OQ=2087.78;QD=33.67;RankSumP=1.00000;SB=-672.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3867T>C;refseq.codonCoord=1289;refseq.end=168031041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4287;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1289S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=26;refseq.start=168031041;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr5 168045285 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=107;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=98.69;MQ0=0;OQ=1847.16;QD=17.26;RankSumP=0.363694;SB=-917.87;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.3540C>T;refseq.codonCoord=1180;refseq.end=168045285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3960;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1180A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-16;refseq.start=168045285;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 168045401 . T G 17.50 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=120;Dels=0.00;HRun=3;HaplotypeScore=11.39;MQ=98.29;MQ0=0;QD=0.15;RankSumP=0.00000;SB=179.56;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3424A>C;refseq.codonCoord=1142;refseq.end=168045401;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3844;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1142P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=110;refseq.start=168045401;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 168107902 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.49;MQ0=0;OQ=921.29;QD=12.12;RankSumP=0.105518;SB=-450.93;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2253C>A;refseq.codonCoord=751;refseq.end=168107902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2673;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P751P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-18;refseq.start=168107902;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr5 168109095 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=3;HaplotypeScore=7.44;MQ=98.98;MQ0=0;OQ=5572.95;QD=22.29;RankSumP=0.113987;SB=-1986.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2097T>C;refseq.codonCoord=699;refseq.end=168109095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2517;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I699I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-41;refseq.start=168109095;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr5 168112659 . C T 264.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=14.68;MQ=98.82;MQ0=0;OQ=2690.28;QD=17.47;RankSumP=0.259520;SB=-1343.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1852G>A;refseq.codonCoord=618;refseq.end=168112659;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2272;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G618S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=23;refseq.start=168112659;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr5 168145529 . A G 284.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.92;MQ0=0;OQ=8670.28;QD=41.09;RankSumP=1.00000;SB=-4338.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1112T>C;refseq.codonCoord=371;refseq.end=168145529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1532;refseq.name=NM_003062;refseq.name2=SLIT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V371A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=33;refseq.start=168145529;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr5 168623190 . A G 33.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=91.35;MQ0=0;QD=8.46;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.end_1=168660084;refseq.end_2=168623190;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=87;refseq.name2_1=SLIT3;refseq.name2_2=MIR585;refseq.name_1=NM_003062;refseq.name_2=NR_030311;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=168611052;refseq.start_2=168623190;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=soap-filterIngatk GT 1/1 chr5 168954188 . C T 123.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=353;Dels=0.00;HRun=1;HaplotypeScore=7.77;MQ=98.66;MQ0=0;OQ=7163.20;QD=20.29;RankSumP=0.456053;SB=-3057.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.816C>T;refseq.codonCoord=272;refseq.end=168954188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_017785;refseq.name2=CCDC99;refseq.positionType=CDS;refseq.proteinCoordStr=p.L272L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=36;refseq.start=168954188;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr5 168961059 . T C 311.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=98.85;MQ0=0;OQ=2893.63;QD=20.97;RankSumP=0.358183;SB=-1251.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1522T>C;refseq.codonCoord=508;refseq.end=168961059;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1801;refseq.name=NM_017785;refseq.name2=CCDC99;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y508H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-149;refseq.start=168961059;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr5 168963728 . T C 288.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.89;MQ0=0;OQ=4100.42;QD=21.58;RankSumP=0.187037;SB=-1281.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1757T>C;refseq.codonCoord=586;refseq.end=168963728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2036;refseq.name=NM_017785;refseq.name2=CCDC99;refseq.positionType=CDS;refseq.proteinCoordStr=p.L586S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=87;refseq.start=168963728;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr5 169062000 . A G 274.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=10.04;MQ=98.67;MQ0=0;OQ=13853.11;QD=38.27;RankSumP=1.00000;SB=-6171.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1374A>G;refseq.codonCoord=458;refseq.end=169062000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1454;refseq.name=NM_004946;refseq.name2=DOCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K458K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=169062000;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr5 169439838 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.5260G>C;refseq.codonCoord=1754;refseq.end=169439838;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5340;refseq.name=NM_004946;refseq.name2=DOCK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1754P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-28;refseq.start=169439838;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 169468100 . T C 340.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=98.83;MQ0=0;OQ=8578.19;QD=19.32;RankSumP=0.164546;SB=-2870.49;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1044T>C;refseq.codingCoordStr_2=c.759T>C;refseq.codonCoord_1=348;refseq.codonCoord_2=253;refseq.end_1=169468100;refseq.end_2=169468100;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1089;refseq.mrnaCoord_2=804;refseq.name2_1=FOXI1;refseq.name2_2=FOXI1;refseq.name_1=NM_012188;refseq.name_2=NM_144769;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y348Y;refseq.proteinCoordStr_2=p.Y253Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=470;refseq.spliceDist_2=185;refseq.start_1=169468100;refseq.start_2=169468100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr5 170154842 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=3.93755e-10;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.293T>G;refseq.codonCoord=98;refseq.end=170154842;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=491;refseq.name=NM_014211;refseq.name2=GABRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V98G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=53;refseq.start=170154842;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 171414211 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=97.08;MQ0=0;OQ=661.02;QD=7.96;RankSumP=0.465854;SB=-198.93;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2619T>C;refseq.codonCoord=873;refseq.end=171414211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2919;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C873C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-34;refseq.start=171414211;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr5 171453474 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1101A>C;refseq.codonCoord=367;refseq.end=171453474;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A367A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=96;refseq.start=171453474;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr5 171456041 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.23;MQ0=0;OQ=385.70;QD=13.30;RankSumP=0.299537;SB=-63.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.999C>T;refseq.codonCoord=333;refseq.end=171456041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1299;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A333A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=171456041;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr5 171466234 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.47;MQ0=0;OQ=1371.73;QD=17.15;RankSumP=0.0411667;SB=-273.28;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.783T>C;refseq.codonCoord=261;refseq.end=171466234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S261S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=171466234;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr5 171466261 . C T 296.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=98.65;MQ0=0;OQ=2197.01;QD=18.01;RankSumP=0.388453;SB=-735.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.756G>A;refseq.codonCoord=252;refseq.end=171466261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S252S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-33;refseq.start=171466261;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr5 171466387 . T C 105.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=10.61;MQ=98.43;MQ0=0;OQ=6633.65;QD=17.60;RankSumP=0.455511;SB=-2734.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.630A>G;refseq.codonCoord=210;refseq.end=171466387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_005990;refseq.name2=STK10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K210K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=37;refseq.start=171466387;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr5 171698055 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2659T>G;refseq.codonCoord=887;refseq.end=171698055;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2830;refseq.name=NM_001017995;refseq.name2=SH3PXD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W887G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=1471;refseq.start=171698055;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 171699498 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1216T>G;refseq.codonCoord=406;refseq.end=171699498;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1387;refseq.name=NM_001017995;refseq.name2=SH3PXD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W406G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=28;refseq.start=171699498;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 171782076 . G A 191.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.81;MQ0=0;OQ=1688.35;QD=14.43;RankSumP=0.103384;SB=-826.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.105C>T;refseq.codonCoord=35;refseq.end=171782076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_001017995;refseq.name2=SH3PXD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S35S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=30;refseq.start=171782076;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr5 172129317 . G T 240.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=98.81;MQ0=0;OQ=9459.43;QD=34.91;RankSumP=1.00000;SB=-1351.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.600C>A;refseq.codonCoord=200;refseq.end=172129317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_004417;refseq.name2=DUSP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I200I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=87;refseq.start=172129317;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr5 172594630 . T C 111.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=14.15;MQ=98.32;MQ0=0;OQ=1943.31;QD=13.04;RankSumP=0.182387;SB=-905.90;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.63A>G;refseq.codingCoordStr_2=c.63A>G;refseq.codingCoordStr_3=c.63A>G;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=172594630;refseq.end_2=172594630;refseq.end_3=172594630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=292;refseq.mrnaCoord_2=292;refseq.mrnaCoord_3=292;refseq.name2_1=NKX2-5;refseq.name2_2=NKX2-5;refseq.name2_3=NKX2-5;refseq.name_1=NM_001166175;refseq.name_2=NM_001166176;refseq.name_3=NM_004387;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E21E;refseq.proteinCoordStr_2=p.E21E;refseq.proteinCoordStr_3=p.E21E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-272;refseq.spliceDist_2=-272;refseq.spliceDist_3=-272;refseq.start_1=172594630;refseq.start_2=172594630;refseq.start_3=172594630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr5 172969000 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=544;Dels=0.00;HRun=0;HaplotypeScore=8.47;MQ=98.53;MQ0=0;OQ=424.05;QD=0.78;RankSumP=0.247495;SB=123.35;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.406G>A;refseq.codonCoord_2=136;refseq.end_1=172972729;refseq.end_2=172969000;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=633;refseq.name2_1=BOD1;refseq.name2_2=BOD1;refseq.name_1=NM_001159651;refseq.name_2=NM_138369;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V136M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=44;refseq.start_1=172967912;refseq.start_2=172969000;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=soap-filterIngatk GT 0/1 chr5 174088774 . T C 135.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.78;MQ0=0;OQ=1417.93;QD=13.63;RankSumP=0.497438;SB=-338.31;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.386T>C;refseq.codonCoord=129;refseq.end=174088774;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_002449;refseq.name2=MSX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M129T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=174088774;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr5 174801446 . T C 209.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=98.69;MQ0=0;OQ=11460.68;QD=35.59;RankSumP=1.00000;SB=-2991.50;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1263A>G;refseq.codonCoord=421;refseq.end=174801446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2208;refseq.name=NM_000794;refseq.name2=DRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S421S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-1166;refseq.start=174801446;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr5 174869799 . C T 254.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.95;MQ0=0;OQ=1799.90;QD=16.22;RankSumP=0.342353;SB=-681.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.417C>T;refseq.codonCoord=139;refseq.end=174869799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_022754;refseq.name2=SFXN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D139D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-18;refseq.start=174869799;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr5 175324612 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.400853;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.577G>A;refseq.codonCoord=193;refseq.end=175324612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_032361;refseq.name2=THOC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D193N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-53;refseq.start=175324612;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr5 175444598 . C T 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=565;Dels=0.00;HRun=1;HaplotypeScore=10.54;MQ=28.34;MQ0=463;OQ=2840.58;QD=5.03;RankSumP=1.00000;SB=-465.35;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.27C>T;refseq.codonCoord=9;refseq.end=175444598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_001079529;refseq.name2=FAM153B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L9L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=175444598;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr5 175453364 . A C 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.351A>C;refseq.codonCoord=117;refseq.end=175453364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_001079529;refseq.name2=FAM153B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G117G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=12;refseq.start=175453364;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/1 chr5 175466191 . C T 29 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1042;Dels=0.00;HRun=0;HaplotypeScore=16.38;MQ=19.23;MQ0=412;QD=0.03;RankSumP=1.00000;SB=-17.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.854C>T;refseq.codonCoord=285;refseq.end=175466191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_001079529;refseq.name2=FAM153B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P285L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=175466191;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr5 175725211 . G C 15.75 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=15.75;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.39G>C;refseq.codonCoord=13;refseq.end=175725211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=104;refseq.name=NM_173664;refseq.name2=ARL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=104;refseq.start=175725211;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr5 175930852 . T C 280.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=14.02;MQ=98.94;MQ0=0;OQ=4391.92;QD=19.96;RankSumP=0.149332;SB=-1512.60;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.348T>C;refseq.codingCoordStr_2=c.348T>C;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.end_1=175930852;refseq.end_2=175930852;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=622;refseq.mrnaCoord_2=436;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D116D;refseq.proteinCoordStr_2=p.D116D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=175930852;refseq.start_2=175930852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr5 175934750 . A C 285.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=98.04;MQ0=0;OQ=3158.31;QD=32.90;RankSumP=1.00000;SB=-1124.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.555A>C;refseq.codingCoordStr_2=c.555A>C;refseq.codonCoord_1=185;refseq.codonCoord_2=185;refseq.end_1=175934750;refseq.end_2=175934750;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=643;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I185I;refseq.proteinCoordStr_2=p.I185I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=175934750;refseq.start_2=175934750;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr5 175937082 . T C 126.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.02;MQ0=0;OQ=1465.15;QD=31.85;RankSumP=1.00000;SB=-573.22;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1271T>C;refseq.codingCoordStr_2=c.1271T>C;refseq.codonCoord_1=424;refseq.codonCoord_2=424;refseq.end_1=175937082;refseq.end_2=175937082;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1545;refseq.mrnaCoord_2=1359;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V424A;refseq.proteinCoordStr_2=p.V424A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=175937082;refseq.start_2=175937082;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr5 175938083 . C T 167.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.10;MQ0=0;OQ=1635.98;QD=13.19;RankSumP=0.255320;SB=-814.30;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1686C>T;refseq.codingCoordStr_2=c.1686C>T;refseq.codonCoord_1=562;refseq.codonCoord_2=562;refseq.end_1=175938083;refseq.end_2=175938083;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1960;refseq.mrnaCoord_2=1774;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D562D;refseq.proteinCoordStr_2=p.D562D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.start_1=175938083;refseq.start_2=175938083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr5 175944495 . G A 156.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=99.00;MQ0=0;OQ=677.40;QD=14.41;RankSumP=0.293181;SB=-197.27;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2607G>A;refseq.codingCoordStr_2=c.2607G>A;refseq.codonCoord_1=869;refseq.codonCoord_2=869;refseq.end_1=175944495;refseq.end_2=175944495;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2881;refseq.mrnaCoord_2=2695;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A869A;refseq.proteinCoordStr_2=p.A869A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.start_1=175944495;refseq.start_2=175944495;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr5 175950245 . C A 229.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=17.28;MQ=98.82;MQ0=0;OQ=9340.11;QD=16.56;RankSumP=0.0553490;SB=-2436.13;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.3490C>A;refseq.codingCoordStr_2=c.3490C>A;refseq.codonCoord_1=1164;refseq.codonCoord_2=1164;refseq.end_1=175950245;refseq.end_2=175950245;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3764;refseq.mrnaCoord_2=3578;refseq.name2_1=CDHR2;refseq.name2_2=CDHR2;refseq.name_1=NM_001171976;refseq.name_2=NM_017675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1164M;refseq.proteinCoordStr_2=p.L1164M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=175950245;refseq.start_2=175950245;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr5 175957486 . C T 399.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.94;MQ0=0;OQ=3216.73;QD=39.71;RankSumP=1.00000;SB=-904.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1956G>A;refseq.codonCoord=652;refseq.end=175957486;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2131;refseq.name=NM_052899;refseq.name2=GPRIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G652G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1999;refseq.start=175957486;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr5 175958544 . T C 444.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.67;MQ0=0;OQ=6668.74;QD=37.68;RankSumP=1.00000;SB=-2395.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.898A>G;refseq.codonCoord=300;refseq.end=175958544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1073;refseq.name=NM_052899;refseq.name2=GPRIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M300V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=941;refseq.start=175958544;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr5 176238200 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2138T>G;refseq.codonCoord=713;refseq.end=176238200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2330;refseq.name=NM_133369;refseq.name2=UNC5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V713G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-47;refseq.start=176238200;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr5 176238203 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2141A>G;refseq.codonCoord=714;refseq.end=176238203;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2333;refseq.name=NM_133369;refseq.name2=UNC5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E714G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-44;refseq.start=176238203;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 176241119 . A C 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.000181453;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2417T>G;refseq.codonCoord=806;refseq.end=176241119;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2509;refseq.name=NM_002115;refseq.name2=HK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V806G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=24;refseq.start=176241119;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr5 176248010 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.252739;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1233G>A;refseq.codonCoord=411;refseq.end=176248010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_002115;refseq.name2=HK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q411Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-72;refseq.start=176248010;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr5 176248421 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.965T>G;refseq.codonCoord=322;refseq.end=176248421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_002115;refseq.name2=HK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V322G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=51;refseq.start=176248421;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr5 176249061 . C T 138.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1491.51;QD=18.88;RankSumP=0.219896;SB=-559.39;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.841G>A;refseq.codonCoord=281;refseq.end=176249061;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_002115;refseq.name2=HK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G281R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-74;refseq.start=176249061;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr5 176449237 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=9.42;MQ=98.00;MQ0=0;OQ=795.00;QD=9.70;RankSumP=0.334941;SB=-280.76;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.28G>A;refseq.codingCoordStr_2=c.28G>A;refseq.codingCoordStr_3=c.28G>A;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.end_1=176449237;refseq.end_2=176449237;refseq.end_3=176449237;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=81;refseq.mrnaCoord_3=239;refseq.name2_1=FGFR4;refseq.name2_2=FGFR4;refseq.name2_3=FGFR4;refseq.name_1=NM_002011;refseq.name_2=NM_022963;refseq.name_3=NM_213647;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V10I;refseq.proteinCoordStr_2=p.V10I;refseq.proteinCoordStr_3=p.V10I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=176449237;refseq.start_2=176449237;refseq.start_3=176449237;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/0 chr5 176450067 . T G 185.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.23;MQ0=0;OQ=4673.94;QD=35.95;RankSumP=1.00000;SB=-1660.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.162T>G;refseq.codingCoordStr_2=c.162T>G;refseq.codingCoordStr_3=c.162T>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.end_1=176450067;refseq.end_2=176450067;refseq.end_3=176450067;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_2=215;refseq.mrnaCoord_3=373;refseq.name2_1=FGFR4;refseq.name2_2=FGFR4;refseq.name2_3=FGFR4;refseq.name_1=NM_002011;refseq.name_2=NM_022963;refseq.name_3=NM_213647;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R54R;refseq.proteinCoordStr_2=p.R54R;refseq.proteinCoordStr_3=p.R54R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.start_1=176450067;refseq.start_2=176450067;refseq.start_3=176450067;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr5 176450403 . C T 200.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=98.88;MQ0=0;OQ=18581.78;QD=42.52;RankSumP=1.00000;SB=-8327.47;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.407C>T;refseq.codingCoordStr_2=c.407C>T;refseq.codingCoordStr_3=c.407C>T;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.codonCoord_3=136;refseq.end_1=176450403;refseq.end_2=176450403;refseq.end_3=176450403;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=460;refseq.mrnaCoord_3=618;refseq.name2_1=FGFR4;refseq.name2_2=FGFR4;refseq.name2_3=FGFR4;refseq.name_1=NM_002011;refseq.name_2=NM_022963;refseq.name_3=NM_213647;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P136L;refseq.proteinCoordStr_2=p.P136L;refseq.proteinCoordStr_3=p.P136L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=176450403;refseq.start_2=176450403;refseq.start_3=176450403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/1 chr5 176451390 . C T 250.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=98.69;MQ0=0;OQ=11870.76;QD=40.51;RankSumP=1.00000;SB=-5779.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.702C>T;refseq.codingCoordStr_2=c.702C>T;refseq.codingCoordStr_3=c.702C>T;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.codonCoord_3=234;refseq.end_1=176451390;refseq.end_2=176451390;refseq.end_3=176451390;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=869;refseq.mrnaCoord_2=755;refseq.mrnaCoord_3=913;refseq.name2_1=FGFR4;refseq.name2_2=FGFR4;refseq.name2_3=FGFR4;refseq.name_1=NM_002011;refseq.name_2=NM_022963;refseq.name_3=NM_213647;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R234R;refseq.proteinCoordStr_2=p.R234R;refseq.proteinCoordStr_3=p.R234R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=176451390;refseq.start_2=176451390;refseq.start_3=176451390;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr5 176452849 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.47;MQ0=0;OQ=420.33;QD=23.35;RankSumP=0.322601;SB=-234.94;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.1162G>A;refseq.codingCoordStr_3=c.1162G>A;refseq.codonCoord_2=388;refseq.codonCoord_3=388;refseq.end_1=176452928;refseq.end_2=176452849;refseq.end_3=176452849;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1329;refseq.mrnaCoord_3=1373;refseq.name2_1=FGFR4;refseq.name2_2=FGFR4;refseq.name2_3=FGFR4;refseq.name_1=NM_022963;refseq.name_2=NM_002011;refseq.name_3=NM_213647;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G388R;refseq.proteinCoordStr_3=p.G388R;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.start_1=176452402;refseq.start_2=176452849;refseq.start_3=176452849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/0 chr5 176495223 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.513A>C;refseq.codonCoord_2=171;refseq.end_1=176495537;refseq.end_2=176495223;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=651;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_172349;refseq.name_2=NM_022455;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E171D;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-415;refseq.start_1=176494818;refseq.start_2=176495223;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr5 176569431 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1425T>G;refseq.codingCoordStr_2=c.618T>G;refseq.codonCoord_1=475;refseq.codonCoord_2=206;refseq.end_1=176569431;refseq.end_2=176569431;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1563;refseq.mrnaCoord_2=778;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_022455;refseq.name_2=NM_172349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C475W;refseq.proteinCoordStr_2=p.C206W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=189;refseq.spliceDist_2=189;refseq.start_1=176569431;refseq.start_2=176569431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr5 176653804 . T C 295.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=2072.54;QD=39.86;RankSumP=1.00000;SB=-901.24;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.6829T>C;refseq.codingCoordStr_2=c.6022T>C;refseq.codonCoord_1=2277;refseq.codonCoord_2=2008;refseq.end_1=176653804;refseq.end_2=176653804;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6967;refseq.mrnaCoord_2=6182;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_022455;refseq.name_2=NM_172349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2277L;refseq.proteinCoordStr_2=p.L2008L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=366;refseq.spliceDist_2=366;refseq.start_1=176653804;refseq.start_2=176653804;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr5 176653878 . G C 121.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.66;MQ0=0;OQ=1391.45;QD=18.55;RankSumP=0.147473;SB=-386.05;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.6903G>C;refseq.codingCoordStr_2=c.6096G>C;refseq.codonCoord_1=2301;refseq.codonCoord_2=2032;refseq.end_1=176653878;refseq.end_2=176653878;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7041;refseq.mrnaCoord_2=6256;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_022455;refseq.name_2=NM_172349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2301G;refseq.proteinCoordStr_2=p.G2032G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=440;refseq.spliceDist_2=440;refseq.start_1=176653878;refseq.start_2=176653878;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr5 176654264 . A G 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0849832;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.7289A>G;refseq.codingCoordStr_2=c.6482A>G;refseq.codonCoord_1=2430;refseq.codonCoord_2=2161;refseq.end_1=176654264;refseq.end_2=176654264;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7427;refseq.mrnaCoord_2=6642;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_022455;refseq.name_2=NM_172349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q2430R;refseq.proteinCoordStr_2=p.Q2161R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=826;refseq.spliceDist_2=826;refseq.start_1=176654264;refseq.start_2=176654264;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 0/1 chr5 176654901 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.7926A>G;refseq.codingCoordStr_2=c.7119A>G;refseq.codonCoord_1=2642;refseq.codonCoord_2=2373;refseq.end_1=176654901;refseq.end_2=176654901;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8064;refseq.mrnaCoord_2=7279;refseq.name2_1=NSD1;refseq.name2_2=NSD1;refseq.name_1=NM_022455;refseq.name_2=NM_172349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2642G;refseq.proteinCoordStr_2=p.G2373G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=1463;refseq.spliceDist_2=1463;refseq.start_1=176654901;refseq.start_2=176654901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr5 176665722 . A G 214.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.97;MQ0=1;OQ=10641.75;QD=41.73;RankSumP=1.00000;SB=-3613.81;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.*1004T>C;refseq.codingCoordStr_2=c.450A>G;refseq.codonCoord_2=150;refseq.end_1=176665722;refseq.end_2=176665722;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2047;refseq.mrnaCoord_2=602;refseq.name2_1=MXD3;refseq.name2_2=PRELID1;refseq.name_1=NM_001142935;refseq.name_2=NM_013237;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R150R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-616;refseq.spliceDist_2=18;refseq.start_1=176665722;refseq.start_2=176665722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr5 176667254 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=194;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=98.63;MQ0=0;OQ=3029.65;QD=15.62;RankSumP=0.494775;SB=-1191.67;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_2=c.562C>T;refseq.codonCoord_2=188;refseq.end_1=176667377;refseq.end_2=176667254;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1023;refseq.name2_1=MXD3;refseq.name2_2=MXD3;refseq.name_1=NM_001142935;refseq.name_2=NM_031300;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R188W;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=57;refseq.start_1=176666813;refseq.start_2=176667254;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=Intersection GT 1/0 chr5 176667461 . G C 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=6.13;MQ=90.62;MQ0=0;OQ=198.27;QD=8.26;RankSumP=0.563487;SB=-29.85;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.432C>G;refseq.codingCoordStr_2=c.432C>G;refseq.codonCoord_1=144;refseq.codonCoord_2=144;refseq.end_1=176667461;refseq.end_2=176667461;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=893;refseq.mrnaCoord_2=893;refseq.name2_1=MXD3;refseq.name2_2=MXD3;refseq.name_1=NM_001142935;refseq.name_2=NM_031300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A144A;refseq.proteinCoordStr_2=p.A144A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=176667461;refseq.start_2=176667461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr5 176730253 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1109A>G;refseq.codonCoord=370;refseq.end=176730253;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1291;refseq.name=NM_006480;refseq.name2=RGS14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E370G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=176730253;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr5 176730988 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1368T>C;refseq.codonCoord=456;refseq.end=176730988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1550;refseq.name=NM_006480;refseq.name2=RGS14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S456S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-16;refseq.start=176730988;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr5 176745376 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.28T>G;refseq.codingCoordStr_2=c.28T>G;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.end_1=176745376;refseq.end_2=176745376;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=132;refseq.mrnaCoord_2=132;refseq.name2_1=SLC34A1;refseq.name2_2=SLC34A1;refseq.name_1=NM_001167579;refseq.name_2=NM_003052;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S10A;refseq.proteinCoordStr_2=p.S10A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=176745376;refseq.start_2=176745376;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr5 176747685 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.729C>A;refseq.codingCoordStr_2=c.729C>A;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.end_1=176747685;refseq.end_2=176747685;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=833;refseq.mrnaCoord_2=833;refseq.name2_1=SLC34A1;refseq.name2_2=SLC34A1;refseq.name_1=NM_001167579;refseq.name_2=NM_003052;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y243*;refseq.proteinCoordStr_2=p.Y243*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=176747685;refseq.start_2=176747685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr5 176747730 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=14.47;MQ=98.51;MQ0=0;OQ=2965.12;QD=14.83;RankSumP=0.189581;SB=-886.87;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.774T>C;refseq.codingCoordStr_2=c.774T>C;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.end_1=176747730;refseq.end_2=176747730;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=878;refseq.mrnaCoord_2=878;refseq.name2_1=SLC34A1;refseq.name2_2=SLC34A1;refseq.name_1=NM_001167579;refseq.name_2=NM_003052;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H258H;refseq.proteinCoordStr_2=p.H258H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=176747730;refseq.start_2=176747730;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr5 176753718 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.49737e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1090A>C;refseq.codonCoord=364;refseq.end=176753718;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_003052;refseq.name2=SLC34A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T364P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=84;refseq.start=176753718;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr5 176764432 . C G 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.82;MQ0=0;OQ=2114.03;QD=44.04;RankSumP=1.00000;SB=-769.94;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.619G>C;refseq.codonCoord=207;refseq.end=176764432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_000505;refseq.name2=F12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A207P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-16;refseq.start=176764432;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr5 176792843 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.530A>G;refseq.codingCoordStr_2=c.530A>G;refseq.codingCoordStr_3=c.530A>G;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.codonCoord_3=177;refseq.end_1=176792843;refseq.end_2=176792843;refseq.end_3=176792843;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=690;refseq.mrnaCoord_3=690;refseq.name2_1=GRK6;refseq.name2_2=GRK6;refseq.name2_3=GRK6;refseq.name_1=NM_001004105;refseq.name_2=NM_001004106;refseq.name_3=NM_002082;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E177G;refseq.proteinCoordStr_2=p.E177G;refseq.proteinCoordStr_3=p.E177G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=176792843;refseq.start_2=176792843;refseq.start_3=176792843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chr5 176795759 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.108038;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1137C>T;refseq.codingCoordStr_2=c.1137C>T;refseq.codingCoordStr_3=c.1137C>T;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.codonCoord_3=379;refseq.end_1=176795759;refseq.end_2=176795759;refseq.end_3=176795759;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1297;refseq.mrnaCoord_2=1297;refseq.mrnaCoord_3=1297;refseq.name2_1=GRK6;refseq.name2_2=GRK6;refseq.name2_3=GRK6;refseq.name_1=NM_001004105;refseq.name_2=NM_001004106;refseq.name_3=NM_002082;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I379I;refseq.proteinCoordStr_2=p.I379I;refseq.proteinCoordStr_3=p.I379I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=176795759;refseq.start_2=176795759;refseq.start_3=176795759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=FilteredInAll GT 0/1 chr5 176795824 . T G 44.30 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=167;Dels=0.00;HRun=2;HaplotypeScore=71.15;MQ=88.52;MQ0=6;QD=0.27;RankSumP=0.00000;SB=215.70;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1202T>G;refseq.codingCoordStr_2=c.1202T>G;refseq.codingCoordStr_3=c.1202T>G;refseq.codonCoord_1=401;refseq.codonCoord_2=401;refseq.codonCoord_3=401;refseq.end_1=176795824;refseq.end_2=176795824;refseq.end_3=176795824;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1362;refseq.mrnaCoord_2=1362;refseq.mrnaCoord_3=1362;refseq.name2_1=GRK6;refseq.name2_2=GRK6;refseq.name2_3=GRK6;refseq.name_1=NM_001004105;refseq.name_2=NM_001004106;refseq.name_3=NM_002082;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V401G;refseq.proteinCoordStr_2=p.V401G;refseq.proteinCoordStr_3=p.V401G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=176795824;refseq.start_2=176795824;refseq.start_3=176795824;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr5 176795833 . T A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.382951;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1211T>A;refseq.codingCoordStr_2=c.1211T>A;refseq.codingCoordStr_3=c.1211T>A;refseq.codonCoord_1=404;refseq.codonCoord_2=404;refseq.codonCoord_3=404;refseq.end_1=176795833;refseq.end_2=176795833;refseq.end_3=176795833;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1371;refseq.mrnaCoord_2=1371;refseq.mrnaCoord_3=1371;refseq.name2_1=GRK6;refseq.name2_2=GRK6;refseq.name2_3=GRK6;refseq.name_1=NM_001004105;refseq.name_2=NM_001004106;refseq.name_3=NM_002082;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V404D;refseq.proteinCoordStr_2=p.V404D;refseq.proteinCoordStr_3=p.V404D;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=176795833;refseq.start_2=176795833;refseq.start_3=176795833;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=soap GT 1/0 chr5 176817784 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=52;Dels=0.00;HRun=3;HaplotypeScore=1.27;MQ=98.78;MQ0=0;OQ=1648.73;QD=31.71;RankSumP=1.00000;SB=-821.27;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1657T>C;refseq.codingCoordStr_2=c.1663T>C;refseq.codonCoord_1=553;refseq.codonCoord_2=555;refseq.end_1=176817784;refseq.end_2=176817784;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1829;refseq.mrnaCoord_2=1945;refseq.name2_1=DBN1;refseq.name2_2=DBN1;refseq.name_1=NM_004395;refseq.name_2=NM_080881;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S553P;refseq.proteinCoordStr_2=p.S555P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=176817784;refseq.start_2=176817784;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr5 176849122 . C T 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=97.81;MQ0=0;OQ=1090.15;QD=26.59;RankSumP=1.00000;SB=-361.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.747G>A;refseq.codingCoordStr_2=c.645G>A;refseq.codonCoord_1=249;refseq.codonCoord_2=215;refseq.end_1=176849122;refseq.end_2=176849122;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=730;refseq.name2_1=PDLIM7;refseq.name2_2=PDLIM7;refseq.name_1=NM_005451;refseq.name_2=NM_203352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P249P;refseq.proteinCoordStr_2=p.P215P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=176849122;refseq.start_2=176849122;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr5 176869252 . C T 118.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=97.49;MQ0=0;OQ=1221.20;QD=14.89;RankSumP=0.180566;SB=-417.45;SecondBestBaseQ=23;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.-105G>A;refseq.codingCoordStr_3=c.64G>A;refseq.codonCoord_3=22;refseq.end_1=176869856;refseq.end_2=176869252;refseq.end_3=176869252;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=180;refseq.mrnaCoord_3=69;refseq.name2_1=DOK3;refseq.name2_2=DOK3;refseq.name2_3=DOK3;refseq.name_1=NM_001144875;refseq.name_2=NM_001144876;refseq.name_3=NM_024872;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G22R;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.start_1=176869193;refseq.start_2=176869252;refseq.start_3=176869252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr5 176869256 . T C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=97.39;MQ0=0;OQ=2220.54;QD=28.84;RankSumP=1.00000;SB=-648.93;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_2=c.-109A>G;refseq.codingCoordStr_3=c.60A>G;refseq.codonCoord_3=20;refseq.end_1=176869856;refseq.end_2=176869256;refseq.end_3=176869256;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=176;refseq.mrnaCoord_3=65;refseq.name2_1=DOK3;refseq.name2_2=DOK3;refseq.name2_3=DOK3;refseq.name_1=NM_001144875;refseq.name_2=NM_001144876;refseq.name_3=NM_024872;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L20L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTA;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=176869193;refseq.start_2=176869256;refseq.start_3=176869256;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr5 176872193 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1459G>T;refseq.codonCoord=487;refseq.end=176872193;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_016222;refseq.name2=DDX41;refseq.positionType=CDS;refseq.proteinCoordStr=p.V487L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=60;refseq.start=176872193;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr5 176872627 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1293A>C;refseq.codonCoord=431;refseq.end=176872627;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_016222;refseq.name2=DDX41;refseq.positionType=CDS;refseq.proteinCoordStr=p.T431T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=176872627;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 176872990 . G A 251.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=98.69;MQ0=0;OQ=4164.27;QD=20.41;RankSumP=0.488879;SB=-1585.30;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1200C>T;refseq.codonCoord=400;refseq.end=176872990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_016222;refseq.name2=DDX41;refseq.positionType=CDS;refseq.proteinCoordStr=p.R400R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-31;refseq.start=176872990;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr5 176967136 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr5;refseq.codingCoordStr=c.639+2;refseq.end=176967136;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_007255;refseq.name2=B4GALT7;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=176967136;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr5 177089106 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.688A>C;refseq.codonCoord=230;refseq.end=177089106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_173663;refseq.name2=FAM153A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T230P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-15;refseq.start=177089106;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr5 177091184 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.397091;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.623T>C;refseq.codonCoord=208;refseq.end=177091184;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_173663;refseq.name2=FAM153A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L208P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=177091184;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 0/1 chr5 177094497 . A G 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=177094497;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_173663;refseq.name2=FAM153A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-28;refseq.start=177094497;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/1 chr5 177096186 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=9.89;MQ0=70;OQ=402.66;QD=4.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.433T>C;refseq.codonCoord=145;refseq.end=177096186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_173663;refseq.name2=FAM153A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F145L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=177096186;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr5 177096650 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=66.61;MQ0=7;OQ=479.18;QD=25.22;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.401C>T;refseq.codonCoord=134;refseq.end=177096650;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_173663;refseq.name2=FAM153A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T134M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=177096650;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr5 177355482 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=15.01;MQ=97.39;MQ0=0;OQ=6388.91;QD=29.58;RankSumP=1.00000;SB=-3051.85;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.59A>G;refseq.codonCoord=20;refseq.end=177355482;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_006261;refseq.name2=PROP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N20S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-51;refseq.start=177355482;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 177355514 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=13.56;MQ=97.73;MQ0=0;OQ=1857.29;QD=9.19;RankSumP=0.0709281;SB=-162.40;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.27T>C;refseq.codonCoord=9;refseq.end=177355514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_006261;refseq.name2=PROP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A9A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-83;refseq.start=177355514;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr5 177401318 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.152A>T;refseq.codonCoord=51;refseq.end=177401318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_001079527;refseq.name2=FAM153C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E51V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=19;refseq.start=177401318;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr5 177401337 . G A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.171G>A;refseq.codonCoord=57;refseq.end=177401337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_001079527;refseq.name2=FAM153C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q57Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-34;refseq.start=177401337;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr5 177479853 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=97.60;MQ0=0;OQ=1715.19;QD=29.07;RankSumP=1.00000;SB=-118.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.399T>C;refseq.codonCoord=133;refseq.end=177479853;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_015111;refseq.name2=N4BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S133S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=69;refseq.start=177479853;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr5 177513138 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=98.46;MQ0=0;OQ=538.80;QD=12.53;RankSumP=0.515227;SB=-219.17;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.190G>A;refseq.codingCoordStr_2=c.190G>A;refseq.codonCoord_1=64;refseq.codonCoord_2=64;refseq.end_1=177513138;refseq.end_2=177513138;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=333;refseq.mrnaCoord_2=333;refseq.name2_1=NHP2;refseq.name2_2=NHP2;refseq.name_1=NM_001034833;refseq.name_2=NM_017838;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V64M;refseq.proteinCoordStr_2=p.V64M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=177513138;refseq.start_2=177513138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr5 177582015 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.874A>C;refseq.codonCoord=292;refseq.end=177582015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_153373;refseq.name2=AGXT2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T292P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-54;refseq.start=177582015;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr5 177589643 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.242A>C;refseq.codonCoord=81;refseq.end=177589643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_153373;refseq.name2=AGXT2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N81T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=64;refseq.start=177589643;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 177607823 . C T 322.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1550.80;QD=36.07;RankSumP=1.00000;SB=-574.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=177607823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1546;refseq.name=NM_173465;refseq.name2=COL23A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A396A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-25;refseq.start=177607823;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr5 178071778 . C T 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.377132;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1707G>A;refseq.codonCoord=569;refseq.end=178071778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_005649;refseq.name2=ZNF354A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q569Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-651;refseq.start=178071778;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr5 178071791 . C A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.370248;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1694G>T;refseq.codonCoord=565;refseq.end=178071791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1892;refseq.name=NM_005649;refseq.name2=ZNF354A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R565L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-664;refseq.start=178071791;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 1/0 chr5 178072048 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=1;HaplotypeScore=9.00;MQ=79.77;MQ0=47;OQ=5477.28;QD=12.06;RankSumP=0.485074;SB=-768.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1437A>C;refseq.codonCoord=479;refseq.end=178072048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1635;refseq.name=NM_005649;refseq.name2=ZNF354A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S479S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-921;refseq.start=178072048;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr5 178072696 . C T 260.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.63;MQ0=0;OQ=4323.14;QD=17.79;RankSumP=0.121093;SB=-1799.58;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.789G>A;refseq.codonCoord=263;refseq.end=178072696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_005649;refseq.name2=ZNF354A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T263T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=533;refseq.start=178072696;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr5 178073015 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=482;Dels=0.00;HRun=3;HaplotypeScore=23.43;MQ=98.08;MQ0=0;OQ=298.02;QD=0.62;RankSumP=0.00000;SB=917.08;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.470G>A;refseq.codonCoord=157;refseq.end=178073015;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_005649;refseq.name2=ZNF354A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R157K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=214;refseq.start=178073015;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr5 178225913 . T C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.0465293;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=178225913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=63;refseq.start=178225913;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr5 178226665 . T C 145.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=9.13;MQ=89.50;MQ0=6;OQ=4065.34;QD=31.51;RankSumP=1.00000;SB=-1569.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.243T>C;refseq.codonCoord=81;refseq.end=178226665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=469;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G81G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-14;refseq.start=178226665;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr5 178243052 . C T 455.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=96.36;MQ0=0;OQ=6587.72;QD=40.17;RankSumP=1.00000;SB=-2795.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.993C>T;refseq.codonCoord=331;refseq.end=178243052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G331G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=737;refseq.start=178243052;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr5 178243427 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.279908;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1368T>C;refseq.codonCoord=456;refseq.end=178243427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H456H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-603;refseq.start=178243427;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr5 178243753 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.276694;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1694T>G;refseq.codonCoord=565;refseq.end=178243753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1920;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L565R;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-277;refseq.start=178243753;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 1/0 chr5 178243766 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.370707;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1707A>G;refseq.codonCoord=569;refseq.end=178243766;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1933;refseq.name=NM_058230;refseq.name2=ZNF354B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q569Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-264;refseq.start=178243766;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr5 178324466 . G A 303.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.93;MQ0=0;OQ=2479.94;QD=19.37;RankSumP=0.259650;SB=-1232.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.455G>A;refseq.codonCoord=152;refseq.end=178324466;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=726;refseq.name=NM_182594;refseq.name2=ZNF454;refseq.positionType=CDS;refseq.proteinCoordStr=p.C152Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=205;refseq.start=178324466;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr5 178324508 . A C 186.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.98;MQ0=0;OQ=1508.64;QD=13.47;RankSumP=0.221869;SB=-738.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.497A>C;refseq.codonCoord=166;refseq.end=178324508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_182594;refseq.name2=ZNF454;refseq.positionType=CDS;refseq.proteinCoordStr=p.D166A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=247;refseq.start=178324508;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr5 178325259 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1248G>T;refseq.codonCoord=416;refseq.end=178325259;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_182594;refseq.name2=ZNF454;refseq.positionType=CDS;refseq.proteinCoordStr=p.L416F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-782;refseq.start=178325259;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr5 178342800 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2153C>G;refseq.codonCoord=718;refseq.end=178342800;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2332;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A718G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=29;refseq.start=178342800;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr5 178346553 . T C 91.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.57;MQ0=0;OQ=4044.15;QD=37.45;RankSumP=1.00000;SB=-1340.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1392A>G;refseq.codonCoord=464;refseq.end=178346553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1571;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G464G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=38;refseq.start=178346553;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr5 178348543 . A G 263.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2201.53;QD=33.36;RankSumP=1.00000;SB=-615.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1353T>C;refseq.codonCoord=451;refseq.end=178348543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1532;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N451N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=178348543;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr5 178348588 . A G 119.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=5.65;MQ=98.68;MQ0=0;OQ=4710.62;QD=33.89;RankSumP=1.00000;SB=-1661.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1308T>C;refseq.codonCoord=436;refseq.end=178348588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1487;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T436T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-47;refseq.start=178348588;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr5 178348669 . G A 454.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.09;MQ0=0;OQ=5503.92;QD=38.76;RankSumP=1.00000;SB=-2714.54;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1227C>T;refseq.codonCoord=409;refseq.end=178348669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1406;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y409Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=74;refseq.start=178348669;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr5 178348894 . G A 277.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.62;MQ0=0;OQ=8470.75;QD=41.32;RankSumP=1.00000;SB=-2024.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=178348894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1310;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D377D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-23;refseq.start=178348894;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr5 178351472 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr5;refseq.codingCoordStr=c.721+2;refseq.end=178351472;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=178351472;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr5 178354376 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.176A>C;refseq.codonCoord=59;refseq.end=178354376;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_000843;refseq.name2=GRM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q59P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-329;refseq.start=178354376;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr5 178487651 . G A 323.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.91;MQ0=0;OQ=6572.80;QD=19.45;RankSumP=0.284029;SB=-1367.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2532C>T;refseq.codonCoord=844;refseq.end=178487651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2532;refseq.name=NM_014244;refseq.name2=ADAMTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D844D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=75;refseq.start=178487651;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr5 178492437 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.2156A>C;refseq.codonCoord=719;refseq.end=178492437;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2156;refseq.name=NM_014244;refseq.name2=ADAMTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N719T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-54;refseq.start=178492437;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr5 178495573 . G A 290.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=1.36;MQ=98.34;MQ0=0;OQ=2920.11;QD=18.37;RankSumP=0.0993117;SB=-961.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2028C>T;refseq.codonCoord=676;refseq.end=178495573;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2028;refseq.name=NM_014244;refseq.name2=ADAMTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D676D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-58;refseq.start=178495573;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr5 178518343 . A C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00525226;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1119T>G;refseq.codingCoordStr_2=c.1119T>G;refseq.codonCoord_1=373;refseq.codonCoord_2=373;refseq.end_1=178518343;refseq.end_2=178518343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1119;refseq.mrnaCoord_2=1119;refseq.name2_1=ADAMTS2;refseq.name2_2=ADAMTS2;refseq.name_1=NM_014244;refseq.name_2=NM_021599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P373P;refseq.proteinCoordStr_2=p.P373P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=178518343;refseq.start_2=178518343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 0/1 chr5 178567153 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=185;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=98.24;MQ0=0;OQ=3998.88;QD=21.62;RankSumP=0.424774;SB=-1172.19;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.858C>T;refseq.codingCoordStr_2=c.858C>T;refseq.codonCoord_1=286;refseq.codonCoord_2=286;refseq.end_1=178567153;refseq.end_2=178567153;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=858;refseq.mrnaCoord_2=858;refseq.name2_1=ADAMTS2;refseq.name2_2=ADAMTS2;refseq.name_1=NM_014244;refseq.name_2=NM_021599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H286H;refseq.proteinCoordStr_2=p.H286H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=178567153;refseq.start_2=178567153;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr5 178567225 . C T 457.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.91;MQ0=0;OQ=5029.18;QD=39.60;RankSumP=1.00000;SB=-1684.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.786G>A;refseq.codingCoordStr_2=c.786G>A;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.end_1=178567225;refseq.end_2=178567225;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=786;refseq.mrnaCoord_2=786;refseq.name2_1=ADAMTS2;refseq.name2_2=ADAMTS2;refseq.name_1=NM_014244;refseq.name_2=NM_021599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A262A;refseq.proteinCoordStr_2=p.A262A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.start_1=178567225;refseq.start_2=178567225;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr5 178567278 . C T 146.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=99.00;MQ0=0;OQ=992.64;QD=13.79;RankSumP=0.000545139;SB=-275.25;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.733G>A;refseq.codingCoordStr_2=c.733G>A;refseq.codonCoord_1=245;refseq.codonCoord_2=245;refseq.end_1=178567278;refseq.end_2=178567278;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=733;refseq.name2_1=ADAMTS2;refseq.name2_2=ADAMTS2;refseq.name_1=NM_014244;refseq.name_2=NM_021599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V245I;refseq.proteinCoordStr_2=p.V245I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=178567278;refseq.start_2=178567278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=filterInsoap-gatk GT 0/1 chr5 178703587 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.82;MQ0=0;OQ=1020.45;QD=12.29;RankSumP=0.449009;SB=-295.56;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.321T>C;refseq.codingCoordStr_2=c.321T>C;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=178703587;refseq.end_2=178703587;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=321;refseq.name2_1=ADAMTS2;refseq.name2_2=ADAMTS2;refseq.name_1=NM_014244;refseq.name_2=NM_021599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S107S;refseq.proteinCoordStr_2=p.S107S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=182;refseq.spliceDist_2=182;refseq.start_1=178703587;refseq.start_2=178703587;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr5 178953168 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.378530;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1005C>T;refseq.codingCoordStr_2=c.1005C>T;refseq.codingCoordStr_3=c.1329C>T;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=443;refseq.end_1=178953168;refseq.end_2=178953168;refseq.end_3=178953168;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1313;refseq.mrnaCoord_2=1124;refseq.mrnaCoord_3=1329;refseq.name2_1=RUFY1;refseq.name2_2=RUFY1;refseq.name2_3=RUFY1;refseq.name_1=NM_001040451;refseq.name_2=NM_001040452;refseq.name_3=NM_025158;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H335H;refseq.proteinCoordStr_2=p.H335H;refseq.proteinCoordStr_3=p.H443H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.spliceDist_3=84;refseq.start_1=178953168;refseq.start_2=178953168;refseq.start_3=178953168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=FilteredInAll GT 0/1 chr5 178969039 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=21.13;MQ=97.56;MQ0=0;OQ=3963.48;QD=17.46;RankSumP=0.247072;SB=-838.06;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.1716G>A;refseq.codingCoordStr_2=c.1716G>A;refseq.codingCoordStr_3=c.2040G>A;refseq.codonCoord_1=572;refseq.codonCoord_2=572;refseq.codonCoord_3=680;refseq.end_1=178969039;refseq.end_2=178969039;refseq.end_3=178969039;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2024;refseq.mrnaCoord_2=1835;refseq.mrnaCoord_3=2040;refseq.name2_1=RUFY1;refseq.name2_2=RUFY1;refseq.name2_3=RUFY1;refseq.name_1=NM_001040451;refseq.name_2=NM_001040452;refseq.name_3=NM_025158;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L572L;refseq.proteinCoordStr_2=p.L572L;refseq.proteinCoordStr_3=p.L680L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.start_1=178969039;refseq.start_2=178969039;refseq.start_3=178969039;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/0 chr5 179125929 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=251;Dels=0.00;HRun=1;HaplotypeScore=23.65;MQ=98.00;MQ0=0;OQ=2643.61;QD=10.53;RankSumP=0.408329;SB=-1106.00;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1312A>G;refseq.codonCoord=438;refseq.end=179125929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_014757;refseq.name2=MAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S438G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-420;refseq.start=179125929;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr5 179128473 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=10.13;MQ=98.10;MQ0=0;OQ=1672.71;QD=15.21;RankSumP=0.0338903;SB=-706.69;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1748G>A;refseq.codonCoord=583;refseq.end=179128473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2011;refseq.name=NM_014757;refseq.name2=MAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S583N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=17;refseq.start=179128473;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 179134070 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=172;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=98.13;MQ0=0;OQ=2779.46;QD=16.16;RankSumP=0.238201;SB=-1297.73;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.2637G>A;refseq.codonCoord=879;refseq.end=179134070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2900;refseq.name=NM_014757;refseq.name2=MAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P879P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=569;refseq.start=179134070;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr5 179134453 . G A 125.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=373;Dels=0.00;HRun=1;HaplotypeScore=11.71;MQ=98.65;MQ0=0;OQ=6548.89;QD=17.56;RankSumP=0.412227;SB=-2266.99;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3020G>A;refseq.codonCoord=1007;refseq.end=179134453;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3283;refseq.name=NM_014757;refseq.name2=MAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1007N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=952;refseq.start=179134453;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr5 179157930 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=9.73;MQ=98.59;MQ0=0;OQ=1805.80;QD=12.12;RankSumP=0.213990;SB=-442.93;SecondBestBaseQ=24;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.end_1=179157942;refseq.end_2=179157942;refseq.end_3=179157930;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=23;refseq.name2_1=MGAT4B;refseq.name2_2=MGAT4B;refseq.name2_3=MIR1229;refseq.name_1=NM_014275;refseq.name_2=NM_054013;refseq.name_3=NR_031598;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=23;refseq.start_1=179157894;refseq.start_2=179157894;refseq.start_3=179157930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/0 chr5 179161231 . T G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.353A>C;refseq.codingCoordStr_2=c.398A>C;refseq.codonCoord_1=118;refseq.codonCoord_2=133;refseq.end_1=179161231;refseq.end_2=179161231;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=722;refseq.mrnaCoord_2=1162;refseq.name2_1=MGAT4B;refseq.name2_2=MGAT4B;refseq.name_1=NM_014275;refseq.name_2=NM_054013;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H118P;refseq.proteinCoordStr_2=p.H133P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=179161231;refseq.start_2=179161231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr5 179192705 . G C 210.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=5.20;MQ=99.00;MQ0=0;OQ=1641.20;QD=18.24;RankSumP=0.448765;SB=-830.91;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.570G>C;refseq.codingCoordStr_2=c.570G>C;refseq.codingCoordStr_3=c.822G>C;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.codonCoord_3=274;refseq.end_1=179192705;refseq.end_2=179192705;refseq.end_3=179192705;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=930;refseq.mrnaCoord_2=847;refseq.mrnaCoord_3=917;refseq.name2_1=SQSTM1;refseq.name2_2=SQSTM1;refseq.name2_3=SQSTM1;refseq.name_1=NM_001142298;refseq.name_2=NM_001142299;refseq.name_3=NM_003900;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E190D;refseq.proteinCoordStr_2=p.E190D;refseq.proteinCoordStr_3=p.E274D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.start_1=179192705;refseq.start_2=179192705;refseq.start_3=179192705;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 0/1 chr5 179192759 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.04;MQ=99.00;MQ0=0;OQ=456.52;QD=9.51;RankSumP=0.743459;SB=-57.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.624C>T;refseq.codingCoordStr_2=c.624C>T;refseq.codingCoordStr_3=c.876C>T;refseq.codonCoord_1=208;refseq.codonCoord_2=208;refseq.codonCoord_3=292;refseq.end_1=179192759;refseq.end_2=179192759;refseq.end_3=179192759;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=901;refseq.mrnaCoord_3=971;refseq.name2_1=SQSTM1;refseq.name2_2=SQSTM1;refseq.name2_3=SQSTM1;refseq.name_1=NM_001142298;refseq.name_2=NM_001142299;refseq.name_3=NM_003900;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D208D;refseq.proteinCoordStr_2=p.D208D;refseq.proteinCoordStr_3=p.D292D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.spliceDist_3=-94;refseq.start_1=179192759;refseq.start_2=179192759;refseq.start_3=179192759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr5 179192819 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.32;MQ0=0;OQ=285.40;QD=11.89;RankSumP=0.0384287;SB=-159.62;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.684G>A;refseq.codingCoordStr_2=c.684G>A;refseq.codingCoordStr_3=c.936G>A;refseq.codonCoord_1=228;refseq.codonCoord_2=228;refseq.codonCoord_3=312;refseq.end_1=179192819;refseq.end_2=179192819;refseq.end_3=179192819;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1044;refseq.mrnaCoord_2=961;refseq.mrnaCoord_3=1031;refseq.name2_1=SQSTM1;refseq.name2_2=SQSTM1;refseq.name2_3=SQSTM1;refseq.name_1=NM_001142298;refseq.name_2=NM_001142299;refseq.name_3=NM_003900;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R228R;refseq.proteinCoordStr_2=p.R228R;refseq.proteinCoordStr_3=p.R312R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=179192819;refseq.start_2=179192819;refseq.start_3=179192819;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr5 179192837 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.63;MQ0=0;OQ=243.04;QD=20.25;RankSumP=0.128571;SB=-120.63;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.codingCoordStr_1=c.702C>T;refseq.codingCoordStr_2=c.702C>T;refseq.codingCoordStr_3=c.954C>T;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.codonCoord_3=318;refseq.end_1=179192837;refseq.end_2=179192837;refseq.end_3=179192837;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1062;refseq.mrnaCoord_2=979;refseq.mrnaCoord_3=1049;refseq.name2_1=SQSTM1;refseq.name2_2=SQSTM1;refseq.name2_3=SQSTM1;refseq.name_1=NM_001142298;refseq.name_2=NM_001142299;refseq.name_3=NM_003900;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S234S;refseq.proteinCoordStr_2=p.S234S;refseq.proteinCoordStr_3=p.S318S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=179192837;refseq.start_2=179192837;refseq.start_3=179192837;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr5 179197337 . T C 362.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.64;MQ0=0;OQ=5685.77;QD=19.21;RankSumP=0.240796;SB=-1741.79;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.527A>G;refseq.codingCoordStr_2=c.*1138T>C;refseq.codingCoordStr_3=c.*1138T>C;refseq.codingCoordStr_4=c.*1138T>C;refseq.codingCoordStr_5=c.692A>G;refseq.codonCoord_1=176;refseq.codonCoord_5=231;refseq.end_1=179197337;refseq.end_2=179197337;refseq.end_3=179197337;refseq.end_4=179197337;refseq.end_5=179197337;refseq.frame_1=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=2569;refseq.mrnaCoord_3=2486;refseq.mrnaCoord_4=2556;refseq.mrnaCoord_5=736;refseq.name2_1=C5orf45;refseq.name2_2=SQSTM1;refseq.name2_3=SQSTM1;refseq.name2_4=SQSTM1;refseq.name2_5=C5orf45;refseq.name_1=NM_001017987;refseq.name_2=NM_001142298;refseq.name_3=NM_001142299;refseq.name_4=NM_003900;refseq.name_5=NM_016175;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q176R;refseq.proteinCoordStr_5=p.Q231R;refseq.referenceAA_1=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=155;refseq.spliceDist_2=-345;refseq.spliceDist_3=-345;refseq.spliceDist_4=-347;refseq.spliceDist_5=155;refseq.start_1=179197337;refseq.start_2=179197337;refseq.start_3=179197337;refseq.start_4=179197337;refseq.start_5=179197337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_5=CGA;set=Intersection GT 1/0 chr5 179200555 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=2.27;MQ=98.04;MQ0=0;OQ=1958.57;QD=32.11;RankSumP=1.00000;SB=-625.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.295A>G;refseq.codingCoordStr_2=c.460A>G;refseq.codonCoord_1=99;refseq.codonCoord_2=154;refseq.end_1=179200555;refseq.end_2=179200555;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=339;refseq.mrnaCoord_2=504;refseq.name2_1=C5orf45;refseq.name2_2=C5orf45;refseq.name_1=NM_001017987;refseq.name_2=NM_016175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R99G;refseq.proteinCoordStr_2=p.R154G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=179200555;refseq.start_2=179200555;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr5 179212985 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=2;HaplotypeScore=13.10;MQ=98.65;MQ0=0;OQ=2272.03;QD=14.95;RankSumP=0.377781;SB=-833.40;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.125A>G;refseq.codingCoordStr_2=c.125A>G;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=179212985;refseq.end_2=179212985;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=169;refseq.mrnaCoord_2=169;refseq.name2_1=C5orf45;refseq.name2_2=C5orf45;refseq.name_1=NM_001017987;refseq.name_2=NM_016175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q42R;refseq.proteinCoordStr_2=p.Q42R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=179212985;refseq.start_2=179212985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr5 179229874 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=117;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.73;MQ0=0;OQ=1938.59;QD=16.57;RankSumP=0.234206;SB=-977.90;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2712C>T;refseq.codingCoordStr_2=c.2712C>T;refseq.codonCoord_1=904;refseq.codonCoord_2=904;refseq.end_1=179229874;refseq.end_2=179229874;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2747;refseq.mrnaCoord_2=2747;refseq.name2_1=TBC1D9B;refseq.name2_2=TBC1D9B;refseq.name_1=NM_015043;refseq.name_2=NM_198868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F904F;refseq.proteinCoordStr_2=p.F904F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=179229874;refseq.start_2=179229874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr5 179235527 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=386.46;QD=14.86;RankSumP=0.629091;SB=-144.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1899G>A;refseq.codingCoordStr_2=c.1899G>A;refseq.codonCoord_1=633;refseq.codonCoord_2=633;refseq.end_1=179235527;refseq.end_2=179235527;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1934;refseq.mrnaCoord_2=1934;refseq.name2_1=TBC1D9B;refseq.name2_2=TBC1D9B;refseq.name_1=NM_015043;refseq.name_2=NM_198868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V633V;refseq.proteinCoordStr_2=p.V633V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=179235527;refseq.start_2=179235527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr5 179339764 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=506;Dels=0.00;HRun=1;HaplotypeScore=8.57;MQ=98.80;MQ0=0;OQ=10496.52;QD=20.74;RankSumP=0.147186;SB=-4104.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.736A>G;refseq.codonCoord=246;refseq.end=179339764;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_018434;refseq.name2=RNF130;refseq.positionType=CDS;refseq.proteinCoordStr=p.T246A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-30;refseq.start=179339764;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr5 179431201 . C T 289.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.84;MQ0=0;OQ=1855.48;QD=37.87;RankSumP=1.00000;SB=-775.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.108G>A;refseq.codonCoord=36;refseq.end=179431201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_018434;refseq.name2=RNF130;refseq.positionType=CDS;refseq.proteinCoordStr=p.T36T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-140;refseq.start=179431201;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr5 179431264 . G T 143.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=95.19;MQ0=0;OQ=366.76;QD=19.30;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.45C>A;refseq.codonCoord=15;refseq.end=179431264;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_018434;refseq.name2=RNF130;refseq.positionType=CDS;refseq.proteinCoordStr=p.L15L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-203;refseq.start=179431264;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr5 179461730 . G A 420.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.30;MQ0=0;OQ=6248.59;QD=41.94;RankSumP=1.00000;SB=-2839.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1323C>T;refseq.codonCoord=441;refseq.end=179461730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1432;refseq.name=NM_175062;refseq.name2=RASGEF1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y441Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=20;refseq.start=179461730;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr5 179496041 . T C 121.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=442.01;QD=34.00;RankSumP=1.00000;SB=-245.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.381A>G;refseq.codonCoord=127;refseq.end=179496041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_175062;refseq.name2=RASGEF1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E127E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-58;refseq.start=179496041;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr5 179928717 . C T 101.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=4.08;MQ=98.59;MQ0=0;OQ=3506.84;QD=42.25;RankSumP=1.00000;SB=-317.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1029C>T;refseq.codonCoord=343;refseq.end=179928717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_015455;refseq.name2=CNOT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S343S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=179928717;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr5 179962928 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=69;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=98.30;MQ0=0;OQ=912.60;QD=13.23;RankSumP=0.353652;SB=-329.87;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.3962G>A;refseq.codonCoord=1321;refseq.end=179962928;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4041;refseq.name=NM_182925;refseq.name2=FLT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1321Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=69;refseq.start=179962928;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr5 179978517 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=148.06;QD=12.34;RankSumP=0.215909;SB=-82.29;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.2860C>T;refseq.codingCoordStr_2=c.2860C>T;refseq.codonCoord_1=954;refseq.codonCoord_2=954;refseq.end_1=179978517;refseq.end_2=179978517;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2939;refseq.mrnaCoord_2=2939;refseq.name2_1=FLT4;refseq.name2_2=FLT4;refseq.name_1=NM_002020;refseq.name_2=NM_182925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P954S;refseq.proteinCoordStr_2=p.P954S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=179978517;refseq.start_2=179978517;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr5 179985552 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=96.84;MQ0=0;OQ=487.54;QD=11.89;RankSumP=0.610680;SB=-104.93;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.1344C>T;refseq.codingCoordStr_2=c.1344C>T;refseq.codonCoord_1=448;refseq.codonCoord_2=448;refseq.end_1=179985552;refseq.end_2=179985552;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1423;refseq.mrnaCoord_2=1423;refseq.name2_1=FLT4;refseq.name2_2=FLT4;refseq.name_1=NM_002020;refseq.name_2=NM_182925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y448Y;refseq.proteinCoordStr_2=p.Y448Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.start_1=179985552;refseq.start_2=179985552;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr5 179989837 . C A 118.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=98.29;MQ0=0;OQ=1944.66;QD=14.40;RankSumP=0.326533;SB=-429.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.507G>T;refseq.codingCoordStr_2=c.507G>T;refseq.codonCoord_1=169;refseq.codonCoord_2=169;refseq.end_1=179989837;refseq.end_2=179989837;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=586;refseq.name2_1=FLT4;refseq.name2_2=FLT4;refseq.name_1=NM_002020;refseq.name_2=NM_182925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L169L;refseq.proteinCoordStr_2=p.L169L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=179989837;refseq.start_2=179989837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr5 179991368 . G T 74 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=91;Dels=0.00;HRun=1;HaplotypeScore=12.09;MQ=97.49;MQ0=0;OQ=137.25;QD=1.51;RankSumP=5.98478e-05;SB=86.30;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.codingCoordStr_1=c.75C>A;refseq.codingCoordStr_2=c.75C>A;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=179991368;refseq.end_2=179991368;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=154;refseq.mrnaCoord_2=154;refseq.name2_1=FLT4;refseq.name2_2=FLT4;refseq.name_1=NM_002020;refseq.name_2=NM_182925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y25*;refseq.proteinCoordStr_2=p.Y25*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=179991368;refseq.start_2=179991368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr5 180099067 . C G 189.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=4266.76;QD=47.94;RankSumP=1.00000;SB=-1183.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.598G>C;refseq.codonCoord=200;refseq.end=180099067;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_001001657;refseq.name2=OR2Y1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-339;refseq.start=180099067;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr5 180151274 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=97.68;MQ0=0;OQ=829.44;QD=8.92;RankSumP=0.500000;SB=-221.41;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.1304T>C;refseq.codingCoordStr_2=c.1304T>C;refseq.codingCoordStr_3=c.1304T>C;refseq.codingCoordStr_4=c.1304T>C;refseq.codingCoordStr_5=c.1304T>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.codonCoord_3=435;refseq.codonCoord_4=435;refseq.codonCoord_5=435;refseq.end_1=180151274;refseq.end_2=180151274;refseq.end_3=180151274;refseq.end_4=180151274;refseq.end_5=180151274;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1957;refseq.mrnaCoord_2=2043;refseq.mrnaCoord_3=1520;refseq.mrnaCoord_4=1731;refseq.mrnaCoord_5=1799;refseq.name2_1=MGAT1;refseq.name2_2=MGAT1;refseq.name2_3=MGAT1;refseq.name2_4=MGAT1;refseq.name2_5=MGAT1;refseq.name_1=NM_001114617;refseq.name_2=NM_001114618;refseq.name_3=NM_001114619;refseq.name_4=NM_001114620;refseq.name_5=NM_002406;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L435P;refseq.proteinCoordStr_2=p.L435P;refseq.proteinCoordStr_3=p.L435P;refseq.proteinCoordStr_4=p.L435P;refseq.proteinCoordStr_5=p.L435P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.spliceDist_1=-1128;refseq.spliceDist_2=-1128;refseq.spliceDist_3=-1128;refseq.spliceDist_4=-1128;refseq.spliceDist_5=-1128;refseq.start_1=180151274;refseq.start_2=180151274;refseq.start_3=180151274;refseq.start_4=180151274;refseq.start_5=180151274;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;set=Intersection GT 0/1 chr5 180268204 . T G 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.0756960;SecondBestBaseQ=13;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_3=c.62T>G;refseq.codingCoordStr_4=c.62T>G;refseq.codingCoordStr_5=c.62T>G;refseq.codonCoord_3=21;refseq.codonCoord_4=21;refseq.codonCoord_5=21;refseq.end_1=180270934;refseq.end_2=180270934;refseq.end_3=180268204;refseq.end_4=180268204;refseq.end_5=180268204;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=296;refseq.mrnaCoord_4=296;refseq.mrnaCoord_5=296;refseq.name2_1=BTNL8;refseq.name2_2=BTNL8;refseq.name2_3=BTNL8;refseq.name2_4=BTNL8;refseq.name2_5=BTNL8;refseq.name_1=NM_001159707;refseq.name_2=NM_001159709;refseq.name_3=NM_001040462;refseq.name_4=NM_001159708;refseq.name_5=NM_024850;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.V21G;refseq.proteinCoordStr_4=p.V21G;refseq.proteinCoordStr_5=p.V21G;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.spliceDist_5=13;refseq.start_1=180258976;refseq.start_2=180262013;refseq.start_3=180268204;refseq.start_4=180268204;refseq.start_5=180268204;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=soap GT 1/0 chr5 180407822 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.399C>G;refseq.codonCoord=133;refseq.end=180407822;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_152547;refseq.name2=BTNL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C133W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-56;refseq.start=180407822;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr5 180409774 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.535T>G;refseq.codonCoord=179;refseq.end=180409774;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_152547;refseq.name2=BTNL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y179D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=81;refseq.start=180409774;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr5 180418853 . G T 99.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.84;MQ0=0;OQ=653.46;QD=32.67;RankSumP=1.00000;SB=-250.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.993G>T;refseq.codonCoord=331;refseq.end=180418853;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1224;refseq.name=NM_152547;refseq.name2=BTNL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T331T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=11;refseq.start=180418853;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr5 180419391 . G C 273.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.69;MQ0=0;OQ=1739.48;QD=40.45;RankSumP=1.00000;SB=-542.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.1531G>C;refseq.codonCoord=511;refseq.end=180419391;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1762;refseq.name=NM_152547;refseq.name2=BTNL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G511R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=549;refseq.start=180419391;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr5 180419447 . C T 280.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=674.46;QD=35.50;RankSumP=1.00000;SB=-254.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr5;refseq.codingCoordStr=c.1587C>T;refseq.codonCoord=529;refseq.end=180419447;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_152547;refseq.name2=BTNL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D529D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=605;refseq.start=180419447;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr5 180515210 . A G 165.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=727;Dels=0.00;HRun=0;HaplotypeScore=13.44;MQ=98.82;MQ0=0;OQ=12773.42;QD=17.57;RankSumP=0.304908;SB=-4141.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.662A>G;refseq.codonCoord=221;refseq.end=180515210;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=662;refseq.name=NM_206880;refseq.name2=OR2V2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H221R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-287;refseq.start=180515210;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr5 180555181 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr5;refseq.chr_2=chr5;refseq.chr_3=chr5;refseq.chr_4=chr5;refseq.chr_5=chr5;refseq.codingCoordStr_1=c.1127A>C;refseq.codingCoordStr_2=c.503A>C;refseq.codingCoordStr_3=c.503A>C;refseq.codingCoordStr_4=c.503A>C;refseq.codingCoordStr_5=c.581A>C;refseq.codonCoord_1=376;refseq.codonCoord_2=168;refseq.codonCoord_3=168;refseq.codonCoord_4=168;refseq.codonCoord_5=194;refseq.end_1=180555181;refseq.end_2=180555181;refseq.end_3=180555181;refseq.end_4=180555181;refseq.end_5=180555181;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1194;refseq.mrnaCoord_2=924;refseq.mrnaCoord_3=992;refseq.mrnaCoord_4=1201;refseq.mrnaCoord_5=1358;refseq.name2_1=TRIM7;refseq.name2_2=TRIM7;refseq.name2_3=TRIM7;refseq.name2_4=TRIM7;refseq.name2_5=TRIM7;refseq.name_1=NM_203293;refseq.name_2=NM_203294;refseq.name_3=NM_203295;refseq.name_4=NM_203296;refseq.name_5=NM_203297;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.H376P;refseq.proteinCoordStr_2=p.H168P;refseq.proteinCoordStr_3=p.H168P;refseq.proteinCoordStr_4=p.H168P;refseq.proteinCoordStr_5=p.H194P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.referenceCodon_5=CAC;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.spliceDist_3=103;refseq.spliceDist_4=103;refseq.spliceDist_5=103;refseq.start_1=180555181;refseq.start_2=180555181;refseq.start_3=180555181;refseq.start_4=180555181;refseq.start_5=180555181;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr5 180596602 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr5;refseq.codingCoordStr=c.935T>G;refseq.codonCoord=312;refseq.end=180596602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_006098;refseq.name2=GNB2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=47;refseq.start=180596602;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 295829 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=97.97;MQ0=0;OQ=2547.62;QD=6.69;RankSumP=0.333681;SB=-1175.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=295829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_020185;refseq.name2=DUSP22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P172P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=295829;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr6 509567 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1645G>C;refseq.codonCoord=549;refseq.end=509567;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1779;refseq.name=NM_018303;refseq.name2=EXOC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A549P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-23;refseq.start=509567;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr6 601143 . C A 306.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.60;MQ0=0;OQ=8383.92;QD=36.14;RankSumP=1.00000;SB=-2450.76;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.802G>T;refseq.codonCoord_2=268;refseq.end_1=638008;refseq.end_2=601143;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=822;refseq.name2_1=EXOC2;refseq.name2_2=HUS1B;refseq.name_1=NM_018303;refseq.name_2=NM_148959;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D268Y;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-205;refseq.start_1=582872;refseq.start_2=601143;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr6 1259117 . A C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.250000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1178A>C;refseq.codonCoord=393;refseq.end=1259117;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_033260;refseq.name2=FOXQ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H393P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-877;refseq.start=1259117;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 1340042 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=620;Dels=0.00;HRun=1;HaplotypeScore=6.53;MQ=98.69;MQ0=0;OQ=25082.51;QD=40.46;RankSumP=1.00000;SB=-11536.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1284T>C;refseq.codonCoord=428;refseq.end=1340042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1398;refseq.name=NM_001452;refseq.name2=FOXF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y428Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=113;refseq.start=1340042;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr6 1687793 . A G 337.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=7.44;MQ=98.83;MQ0=0;OQ=7273.67;QD=19.61;RankSumP=0.283969;SB=-2905.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.798T>C;refseq.codonCoord=266;refseq.end=1687793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_001500;refseq.name2=GMDS;refseq.positionType=CDS;refseq.proteinCoordStr=p.D266D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=27;refseq.start=1687793;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 2568819 . G A 288.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.41;MQ0=0;OQ=2134.11;QD=17.35;RankSumP=0.476375;SB=-776.02;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.237C>T;refseq.codonCoord=79;refseq.end=2568819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_152554;refseq.name2=C6orf195;refseq.positionType=CDS;refseq.proteinCoordStr=p.C79C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=534;refseq.start=2568819;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr6 2711143 . T C 74.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=86.45;QD=21.61;RankSumP=1.00000;SB=-48.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.288T>C;refseq.codingCoordStr_2=c.288T>C;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=2711143;refseq.end_2=2711143;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=479;refseq.mrnaCoord_2=479;refseq.name2_1=WRNIP1;refseq.name2_2=WRNIP1;refseq.name_1=NM_020135;refseq.name_2=NM_130395;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G96G;refseq.proteinCoordStr_2=p.G96G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=479;refseq.spliceDist_2=479;refseq.start_1=2711143;refseq.start_2=2711143;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/1 chr6 2711464 . T C 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.609T>C;refseq.codingCoordStr_2=c.609T>C;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.end_1=2711464;refseq.end_2=2711464;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=800;refseq.mrnaCoord_2=800;refseq.name2_1=WRNIP1;refseq.name2_2=WRNIP1;refseq.name_1=NM_020135;refseq.name_2=NM_130395;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S203S;refseq.proteinCoordStr_2=p.S203S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.start_1=2711464;refseq.start_2=2711464;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/1 chr6 2729558 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1644T>G;refseq.codingCoordStr_2=c.1569T>G;refseq.codonCoord_1=548;refseq.codonCoord_2=523;refseq.end_1=2729558;refseq.end_2=2729558;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1835;refseq.mrnaCoord_2=1760;refseq.name2_1=WRNIP1;refseq.name2_2=WRNIP1;refseq.name_1=NM_020135;refseq.name_2=NM_130395;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G548G;refseq.proteinCoordStr_2=p.G523G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=2729558;refseq.start_2=2729558;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr6 2729570 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=15.89;MQ=98.79;MQ0=0;OQ=2028.31;QD=8.18;RankSumP=0.108920;SB=-888.07;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1656G>A;refseq.codingCoordStr_2=c.1581G>A;refseq.codonCoord_1=552;refseq.codonCoord_2=527;refseq.end_1=2729570;refseq.end_2=2729570;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1847;refseq.mrnaCoord_2=1772;refseq.name2_1=WRNIP1;refseq.name2_2=WRNIP1;refseq.name_1=NM_020135;refseq.name_2=NM_130395;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P552P;refseq.proteinCoordStr_2=p.P527P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=2729570;refseq.start_2=2729570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr6 2835410 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1117T>G;refseq.codonCoord=373;refseq.end=2835410;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1238;refseq.name=NM_004155;refseq.name2=SERPINB9;refseq.positionType=CDS;refseq.proteinCoordStr=p.F373V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=394;refseq.start=2835410;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr6 2900801 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=2;HaplotypeScore=2.57;MQ=98.23;MQ0=0;OQ=3035.50;QD=14.88;RankSumP=0.330369;SB=-1255.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.268A>G;refseq.codonCoord=90;refseq.end=2900801;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_004568;refseq.name2=SERPINB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M90V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-45;refseq.start=2900801;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 2955389 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=6.44;MQ=98.42;MQ0=0;OQ=2126.43;QD=15.41;RankSumP=0.197022;SB=-220.59;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.139C>T;refseq.codonCoord=47;refseq.end=2955389;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_000904;refseq.name2=NQO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L47F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-34;refseq.start=2955389;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr6 2960789 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=9.45;MQ=98.80;MQ0=0;OQ=1869.29;QD=12.63;RankSumP=0.220291;SB=-436.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.330A>G;refseq.codonCoord=110;refseq.end=2960789;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_000904;refseq.name2=NQO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P110P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=27;refseq.start=2960789;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr6 3022140 . T C 222.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=12.61;MQ=98.41;MQ0=0;OQ=7777.97;QD=36.01;RankSumP=1.00000;SB=-3761.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.84T>C;refseq.codonCoord=28;refseq.end=3022140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_003804;refseq.name2=RIPK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F28F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-81;refseq.start=3022140;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr6 3068919 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_4=c.137T>G;refseq.codonCoord_4=46;refseq.end_1=3068919;refseq.end_2=3068919;refseq.end_3=3068919;refseq.end_4=3068919;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=414;refseq.mrnaCoord_2=186;refseq.mrnaCoord_3=414;refseq.mrnaCoord_4=186;refseq.name2_1=BPHL;refseq.name2_2=BPHL;refseq.name2_3=BPHL;refseq.name2_4=BPHL;refseq.name_1=NR_026648;refseq.name_2=NR_026649;refseq.name_3=NR_026650;refseq.name_4=NM_004332;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.V46G;refseq.referenceAA_4=Val;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.start_1=3068919;refseq.start_2=3068919;refseq.start_3=3068919;refseq.start_4=3068919;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr6 3099870 rs17849443 A C 1.12 PASS AC=1;AF=0.50;AN=2;DB;DP=743;Dels=0.00;HRun=1;HaplotypeScore=22.26;MQ=31.26;MQ0=165;OQ=2338.44;QD=3.15;SB=-886.85;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.564T>G;refseq.codonCoord=188;refseq.end=3099870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_001069;refseq.name2=TUBB2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S188S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=287;refseq.start=3099870;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=gatk GT:AD:DP:GL:GQ 0/1:478,263:503:-388.59,-151.46,-1586.17:99 chr6 3218456 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=14.92;MQ=97.24;MQ0=0;OQ=2539.07;QD=12.51;RankSumP=0.0127487;SB=-927.57;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1893T>C;refseq.codingCoordStr_2=c.1050T>C;refseq.codonCoord_1=631;refseq.codonCoord_2=350;refseq.end_1=3218456;refseq.end_2=3218456;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1893;refseq.mrnaCoord_2=1650;refseq.name2_1=SLC22A23;refseq.name2_2=SLC22A23;refseq.name_1=NM_015482;refseq.name_2=NM_021945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S631S;refseq.proteinCoordStr_2=p.S350S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=190;refseq.spliceDist_2=190;refseq.start_1=3218456;refseq.start_2=3218456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr6 3232117 . T C 103.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=623.29;QD=31.16;RankSumP=1.00000;SB=-68.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1521A>G;refseq.codingCoordStr_2=c.678A>G;refseq.codonCoord_1=507;refseq.codonCoord_2=226;refseq.end_1=3232117;refseq.end_2=3232117;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1521;refseq.mrnaCoord_2=1278;refseq.name2_1=SLC22A23;refseq.name2_2=SLC22A23;refseq.name_1=NM_015482;refseq.name_2=NM_021945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S507S;refseq.proteinCoordStr_2=p.S226S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=3232117;refseq.start_2=3232117;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr6 3672810 . C G 146.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=98.70;MQ0=0;OQ=5407.63;QD=23.72;RankSumP=0.371338;SB=-1505.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.552G>C;refseq.codonCoord=184;refseq.end=3672810;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_183373;refseq.name2=C6orf145;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q184H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-27;refseq.start=3672810;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr6 3976997 . A G 293.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.18;MQ0=0;OQ=7526.80;QD=41.82;RankSumP=1.00000;SB=-1371.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.247A>G;refseq.codonCoord=83;refseq.end=3976997;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_003913;refseq.name2=PRPF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I83V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=206;refseq.start=3976997;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr6 4014165 . C T 145.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=14.40;MQ=98.73;MQ0=0;OQ=15157.33;QD=42.34;RankSumP=1.00000;SB=-7367.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1291G>A;refseq.codonCoord=431;refseq.end=4014165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_173563;refseq.name2=C6orf146;refseq.positionType=CDS;refseq.proteinCoordStr=p.V431I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-566;refseq.start=4014165;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 4661015 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=630.06;QD=14.32;RankSumP=0.0344235;SB=14.07;SecondBestBaseQ=32;refseq.chr=chr6;refseq.end=4661015;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=135;refseq.name=NR_026590;refseq.name2=CDYL;refseq.positionType=non_coding_exon;refseq.spliceDist=42;refseq.start=4661015;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 4661036 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1000.53;QD=15.63;RankSumP=0.518467;SB=-317.41;SecondBestBaseQ=33;refseq.chr=chr6;refseq.end=4661036;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=156;refseq.name=NR_026590;refseq.name2=CDYL;refseq.positionType=non_coding_exon;refseq.spliceDist=63;refseq.start=4661036;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 4680034 . T C 350.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.52;MQ0=0;OQ=4005.16;QD=18.21;RankSumP=0.176693;SB=-1327.15;SecondBestBaseQ=32;refseq.chr=chr6;refseq.end=4680034;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=274;refseq.name=NR_026590;refseq.name2=CDYL;refseq.positionType=non_coding_exon;refseq.spliceDist=40;refseq.start=4680034;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 4680070 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.56;MQ0=0;OQ=2934.14;QD=18.00;RankSumP=0.395167;SB=-1056.59;SecondBestBaseQ=32;refseq.chr=chr6;refseq.end=4680070;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=310;refseq.name=NR_026590;refseq.name2=CDYL;refseq.positionType=non_coding_exon;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=4680070;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 4880749 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.297T>G;refseq.codingCoordStr_3=c.297T>G;refseq.codingCoordStr_4=c.693T>G;refseq.codonCoord_2=99;refseq.codonCoord_3=99;refseq.codonCoord_4=231;refseq.end_1=4880749;refseq.end_2=4880749;refseq.end_3=4880749;refseq.end_4=4880749;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=986;refseq.mrnaCoord_2=880;refseq.mrnaCoord_3=804;refseq.mrnaCoord_4=1031;refseq.name2_1=CDYL;refseq.name2_2=CDYL;refseq.name2_3=CDYL;refseq.name2_4=CDYL;refseq.name_1=NR_026590;refseq.name_2=NM_001143970;refseq.name_3=NM_001143971;refseq.name_4=NM_004824;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G99G;refseq.proteinCoordStr_3=p.G99G;refseq.proteinCoordStr_4=p.G231G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.start_1=4880749;refseq.start_2=4880749;refseq.start_3=4880749;refseq.start_4=4880749;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr6 5205935 . A C 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=93.93;MQ0=0;OQ=58.14;QD=2.64;RankSumP=0.0906973;SB=-48.93;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.31T>G;refseq.codingCoordStr_2=c.31T>G;refseq.codingCoordStr_3=c.31T>G;refseq.codonCoord_1=11;refseq.codonCoord_2=11;refseq.codonCoord_3=11;refseq.end_1=5205935;refseq.end_2=5205935;refseq.end_3=5205935;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=237;refseq.mrnaCoord_2=237;refseq.mrnaCoord_3=237;refseq.name2_1=LYRM4;refseq.name2_2=LYRM4;refseq.name2_3=LYRM4;refseq.name_1=NM_001164840;refseq.name_2=NM_001164841;refseq.name_3=NM_020408;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S11A;refseq.proteinCoordStr_2=p.S11A;refseq.proteinCoordStr_3=p.S11A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.start_1=5205935;refseq.start_2=5205935;refseq.start_3=5205935;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=FilteredInAll GT 0/1 chr6 5376339 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=543;Dels=0.00;HRun=0;HaplotypeScore=17.26;MQ=98.92;MQ0=0;OQ=12630.69;QD=23.26;RankSumP=0.154181;SB=-5513.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.839A>G;refseq.codonCoord=280;refseq.end=5376339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_006567;refseq.name2=FARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N280S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-66;refseq.start=5376339;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr6 6097136 . C G 244.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=10.42;MQ=98.75;MQ0=0;OQ=5389.55;QD=23.64;RankSumP=0.126819;SB=-2252.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1954G>C;refseq.codonCoord=652;refseq.end=6097136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2077;refseq.name=NM_000129;refseq.name2=F13A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E652Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=46;refseq.start=6097136;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr6 6119865 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=721;Dels=0.00;HRun=0;HaplotypeScore=23.66;MQ=98.81;MQ0=0;OQ=15769.68;QD=21.87;RankSumP=0.459071;SB=-4770.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1694C>T;refseq.codonCoord=565;refseq.end=6119865;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1817;refseq.name=NM_000129;refseq.name2=F13A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P565L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-54;refseq.start=6119865;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr6 6167381 . T G 126.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=9.29;MQ=98.83;MQ0=0;OQ=5863.99;QD=20.22;RankSumP=0.151307;SB=-2248.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.996A>C;refseq.codonCoord=332;refseq.end=6167381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_000129;refseq.name2=F13A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P332P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=23;refseq.start=6167381;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr6 6263794 . C A 111.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.29;MQ0=0;OQ=1369.73;QD=17.79;RankSumP=0.266885;SB=-545.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.103G>T;refseq.codonCoord=35;refseq.end=6263794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_000129;refseq.name2=F13A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V35L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-28;refseq.start=6263794;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr6 6533979 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.13A>C;refseq.codonCoord_2=5;refseq.end_1=6567853;refseq.end_2=6533979;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=47;refseq.name2_1=LOC285780;refseq.name2_2=LY86;refseq.name_1=NR_026970;refseq.name_2=NM_004271;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T5P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=47;refseq.start_1=6514732;refseq.start_2=6533979;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr6 7174345 . T C 107.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.16;MQ0=0;OQ=620.55;QD=13.49;RankSumP=0.363267;SB=-46.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1014T>C;refseq.codingCoordStr_2=c.1014T>C;refseq.codingCoordStr_3=c.1014T>C;refseq.codingCoordStr_4=c.1014T>C;refseq.codonCoord_1=338;refseq.codonCoord_2=338;refseq.codonCoord_3=338;refseq.codonCoord_4=338;refseq.end_1=7174345;refseq.end_2=7174345;refseq.end_3=7174345;refseq.end_4=7174345;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1506;refseq.mrnaCoord_2=1506;refseq.mrnaCoord_3=1506;refseq.mrnaCoord_4=1470;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003698;refseq.name_2=NM_001003699;refseq.name_3=NM_001003700;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H338H;refseq.proteinCoordStr_2=p.H338H;refseq.proteinCoordStr_3=p.H338H;refseq.proteinCoordStr_4=p.H338H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=117;refseq.spliceDist_2=117;refseq.spliceDist_3=117;refseq.spliceDist_4=117;refseq.start_1=7174345;refseq.start_2=7174345;refseq.start_3=7174345;refseq.start_4=7174345;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 1/0 chr6 7174618 . G A 146.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.76;MQ0=0;OQ=2778.48;QD=19.71;RankSumP=0.455551;SB=-1315.38;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1287G>A;refseq.codingCoordStr_2=c.1287G>A;refseq.codingCoordStr_3=c.1287G>A;refseq.codingCoordStr_4=c.1287G>A;refseq.codonCoord_1=429;refseq.codonCoord_2=429;refseq.codonCoord_3=429;refseq.codonCoord_4=429;refseq.end_1=7174618;refseq.end_2=7174618;refseq.end_3=7174618;refseq.end_4=7174618;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1779;refseq.mrnaCoord_2=1779;refseq.mrnaCoord_3=1779;refseq.mrnaCoord_4=1743;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003698;refseq.name_2=NM_001003699;refseq.name_3=NM_001003700;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A429A;refseq.proteinCoordStr_2=p.A429A;refseq.proteinCoordStr_3=p.A429A;refseq.proteinCoordStr_4=p.A429A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=390;refseq.spliceDist_2=390;refseq.spliceDist_3=390;refseq.spliceDist_4=390;refseq.start_1=7174618;refseq.start_2=7174618;refseq.start_3=7174618;refseq.start_4=7174618;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr6 7175679 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.66;MQ0=0;OQ=563.45;QD=13.74;RankSumP=0.618360;SB=-183.46;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.2348G>T;refseq.codingCoordStr_2=c.2348G>T;refseq.codingCoordStr_3=c.2348G>T;refseq.codingCoordStr_4=c.2348G>T;refseq.codonCoord_1=783;refseq.codonCoord_2=783;refseq.codonCoord_3=783;refseq.codonCoord_4=783;refseq.end_1=7175679;refseq.end_2=7175679;refseq.end_3=7175679;refseq.end_4=7175679;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2840;refseq.mrnaCoord_2=2840;refseq.mrnaCoord_3=2840;refseq.mrnaCoord_4=2804;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003698;refseq.name_2=NM_001003699;refseq.name_3=NM_001003700;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G783V;refseq.proteinCoordStr_2=p.G783V;refseq.proteinCoordStr_3=p.G783V;refseq.proteinCoordStr_4=p.G783V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=1451;refseq.spliceDist_2=1451;refseq.spliceDist_3=1451;refseq.spliceDist_4=1451;refseq.start_1=7175679;refseq.start_2=7175679;refseq.start_3=7175679;refseq.start_4=7175679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 0/1 chr6 7192197 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.500000;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.4350A>T;refseq.codingCoordStr_3=c.4515A>T;refseq.codingCoordStr_4=c.4350A>T;refseq.codonCoord_2=1450;refseq.codonCoord_3=1505;refseq.codonCoord_4=1450;refseq.end_1=7193732;refseq.end_2=7192197;refseq.end_3=7192197;refseq.end_4=7192197;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=4842;refseq.mrnaCoord_3=5007;refseq.mrnaCoord_4=4806;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003700;refseq.name_2=NM_001003698;refseq.name_3=NM_001003699;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A1450A;refseq.proteinCoordStr_3=p.A1505A;refseq.proteinCoordStr_4=p.A1450A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_2=-257;refseq.spliceDist_3=-257;refseq.spliceDist_4=-257;refseq.start_1=7185845;refseq.start_2=7192197;refseq.start_3=7192197;refseq.start_4=7192197;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=FilteredInAll GT 0/1 chr6 7192247 . T C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=96.57;MQ0=0;OQ=104.82;QD=10.48;RankSumP=0.726190;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.4400T>C;refseq.codingCoordStr_3=c.4565T>C;refseq.codingCoordStr_4=c.4400T>C;refseq.codonCoord_2=1467;refseq.codonCoord_3=1522;refseq.codonCoord_4=1467;refseq.end_1=7193732;refseq.end_2=7192247;refseq.end_3=7192247;refseq.end_4=7192247;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=4892;refseq.mrnaCoord_3=5057;refseq.mrnaCoord_4=4856;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003700;refseq.name_2=NM_001003698;refseq.name_3=NM_001003699;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.L1467P;refseq.proteinCoordStr_3=p.L1522P;refseq.proteinCoordStr_4=p.L1467P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_2=-207;refseq.spliceDist_3=-207;refseq.spliceDist_4=-207;refseq.start_1=7185845;refseq.start_2=7192247;refseq.start_3=7192247;refseq.start_4=7192247;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/0 chr6 7194054 . T G 22.02 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=24;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=99.00;MQ0=0;QD=0.92;RankSumP=9.68767e-06;SB=35.13;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.4918T>G;refseq.codingCoordStr_2=c.5083T>G;refseq.codingCoordStr_3=c.4285T>G;refseq.codingCoordStr_4=c.4918T>G;refseq.codonCoord_1=1640;refseq.codonCoord_2=1695;refseq.codonCoord_3=1429;refseq.codonCoord_4=1640;refseq.end_1=7194054;refseq.end_2=7194054;refseq.end_3=7194054;refseq.end_4=7194054;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5410;refseq.mrnaCoord_2=5575;refseq.mrnaCoord_3=4777;refseq.mrnaCoord_4=5374;refseq.name2_1=RREB1;refseq.name2_2=RREB1;refseq.name2_3=RREB1;refseq.name2_4=RREB1;refseq.name_1=NM_001003698;refseq.name_2=NM_001003699;refseq.name_3=NM_001003700;refseq.name_4=NM_001168344;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.W1640G;refseq.proteinCoordStr_2=p.W1695G;refseq.proteinCoordStr_3=p.W1429G;refseq.proteinCoordStr_4=p.W1640G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.spliceDist_1=312;refseq.spliceDist_2=312;refseq.spliceDist_3=312;refseq.spliceDist_4=312;refseq.start_1=7194054;refseq.start_2=7194054;refseq.start_3=7194054;refseq.start_4=7194054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr6 7338451 . C T 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.01;HRun=0;HaplotypeScore=17.58;MQ=98.82;MQ0=0;OQ=8356.38;QD=40.76;RankSumP=1.00000;SB=-2546.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.192C>T;refseq.codonCoord=64;refseq.end=7338451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_031480;refseq.name2=RIOK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D64D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-85;refseq.start=7338451;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 7350507 . G A 194.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=6.21;MQ=98.71;MQ0=0;OQ=3937.97;QD=21.17;RankSumP=0.459736;SB=-1092.04;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1123G>A;refseq.codingCoordStr_2=c.400G>A;refseq.codonCoord_1=375;refseq.codonCoord_2=134;refseq.end_1=7350507;refseq.end_2=7350507;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1297;refseq.mrnaCoord_2=607;refseq.name2_1=RIOK1;refseq.name2_2=RIOK1;refseq.name_1=NM_031480;refseq.name_2=NM_153005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V375I;refseq.proteinCoordStr_2=p.V134I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=7350507;refseq.start_2=7350507;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr6 7487252 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=23;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=94.40;MQ0=0;OQ=281.33;QD=12.23;RankSumP=0.645604;SB=-107.96;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.105G>A;refseq.codingCoordStr_2=c.105G>A;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=7487252;refseq.end_2=7487252;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=384;refseq.mrnaCoord_2=384;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G35G;refseq.proteinCoordStr_2=p.G35G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=7487252;refseq.start_2=7487252;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr6 7508982 . T G 260.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=8886.28;QD=36.57;RankSumP=1.00000;SB=-3788.23;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.741T>G;refseq.codingCoordStr_2=c.741T>G;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.end_1=7508982;refseq.end_2=7508982;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1020;refseq.mrnaCoord_2=1020;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A247A;refseq.proteinCoordStr_2=p.A247A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=7508982;refseq.start_2=7508982;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr6 7517261 . A G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=3;HaplotypeScore=1.16;MQ=98.92;MQ0=0;OQ=6828.08;QD=40.17;RankSumP=1.00000;SB=-2487.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2091A>G;refseq.codingCoordStr_2=c.2091A>G;refseq.codonCoord_1=697;refseq.codonCoord_2=697;refseq.end_1=7517261;refseq.end_2=7517261;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2370;refseq.mrnaCoord_2=2370;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G697G;refseq.proteinCoordStr_2=p.G697G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=7517261;refseq.start_2=7517261;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr6 7521526 . G A 419.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.83;MQ0=0;OQ=10130.27;QD=43.29;RankSumP=1.00000;SB=-2846.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2631G>A;refseq.codingCoordStr_2=c.2631G>A;refseq.codonCoord_1=877;refseq.codonCoord_2=877;refseq.end_1=7521526;refseq.end_2=7521526;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2910;refseq.mrnaCoord_2=2910;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R877R;refseq.proteinCoordStr_2=p.R877R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=7521526;refseq.start_2=7521526;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr6 7525595 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=5.07195e-09;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.4173C>A;refseq.codonCoord_2=1391;refseq.end_1=7527863;refseq.end_2=7525595;refseq.frame_2=2;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4452;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y1391*;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=1089;refseq.start_1=7525015;refseq.start_2=7525595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr6 7529616 . C T 288.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=98.82;MQ0=0;OQ=13050.33;QD=41.96;RankSumP=1.00000;SB=-5895.80;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.5325C>T;refseq.codingCoordStr_2=c.7122C>T;refseq.codonCoord_1=1775;refseq.codonCoord_2=2374;refseq.end_1=7529616;refseq.end_2=7529616;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5604;refseq.mrnaCoord_2=7401;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1775T;refseq.proteinCoordStr_2=p.T2374T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1743;refseq.spliceDist_2=1743;refseq.start_1=7529616;refseq.start_2=7529616;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr6 7530966 . G C 292.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.91;MQ0=0;OQ=4924.26;QD=44.36;RankSumP=1.00000;SB=-2313.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.6675G>C;refseq.codingCoordStr_2=c.8472G>C;refseq.codonCoord_1=2225;refseq.codonCoord_2=2824;refseq.end_1=7530966;refseq.end_2=7530966;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6954;refseq.mrnaCoord_2=8751;refseq.name2_1=DSP;refseq.name2_2=DSP;refseq.name_1=NM_001008844;refseq.name_2=NM_004415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2225G;refseq.proteinCoordStr_2=p.G2824G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-980;refseq.spliceDist_2=-980;refseq.start_1=7530966;refseq.start_2=7530966;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr6 7535623 . C T 177.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.25;MQ0=0;OQ=463.17;QD=33.08;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.134C>T;refseq.codonCoord=45;refseq.end=7535623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_152551;refseq.name2=SNRNP48;refseq.positionType=CDS;refseq.proteinCoordStr=p.P45L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-23;refseq.start=7535623;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr6 7807545 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1019A>C;refseq.codonCoord=340;refseq.end=7807545;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1197;refseq.name=NM_001718;refseq.name2=BMP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H340P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=13;refseq.start=7807545;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 7807630 . G C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=14.56;MQ=98.75;MQ0=0;OQ=6277.14;QD=39.23;RankSumP=1.00000;SB=-2039.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1104G>C;refseq.codonCoord=368;refseq.end=7807630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_001718;refseq.name2=BMP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V368V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=98;refseq.start=7807630;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 8358889 . A G 183.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=724.77;QD=17.68;RankSumP=0.403197;SB=-248.67;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1098T>C;refseq.codingCoordStr_2=c.1098T>C;refseq.codingCoordStr_3=c.1098T>C;refseq.codonCoord_1=366;refseq.codonCoord_2=366;refseq.codonCoord_3=366;refseq.end_1=8358889;refseq.end_2=8358889;refseq.end_3=8358889;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1475;refseq.mrnaCoord_2=1264;refseq.mrnaCoord_3=1626;refseq.name2_1=SLC35B3;refseq.name2_2=SLC35B3;refseq.name2_3=SLC35B3;refseq.name_1=NM_001142540;refseq.name_2=NM_001142541;refseq.name_3=NM_015948;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L366L;refseq.proteinCoordStr_2=p.L366L;refseq.proteinCoordStr_3=p.L366L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=8358889;refseq.start_2=8358889;refseq.start_3=8358889;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 0/1 chr6 10506693 . G A 238.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=16.23;MQ=98.18;MQ0=0;OQ=3813.35;QD=20.18;RankSumP=0.486230;SB=-1614.16;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1239C>T;refseq.codingCoordStr_2=c.1245C>T;refseq.codingCoordStr_3=c.1257C>T;refseq.codonCoord_1=413;refseq.codonCoord_2=415;refseq.codonCoord_3=419;refseq.end_1=10506693;refseq.end_2=10506693;refseq.end_3=10506693;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2017;refseq.mrnaCoord_2=1359;refseq.mrnaCoord_3=1509;refseq.name2_1=TFAP2A;refseq.name2_2=TFAP2A;refseq.name2_3=TFAP2A;refseq.name_1=NM_001032280;refseq.name_2=NM_001042425;refseq.name_3=NM_003220;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N413N;refseq.proteinCoordStr_2=p.N415N;refseq.proteinCoordStr_3=p.N419N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=232;refseq.spliceDist_2=232;refseq.spliceDist_3=232;refseq.start_1=10506693;refseq.start_2=10506693;refseq.start_3=10506693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr6 10527635 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr6;refseq.codingCoordStr=c.33+2;refseq.end=10527635;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001042425;refseq.name2=TFAP2A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=10527635;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 10538157 . T C 337.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.85;MQ0=0;OQ=2952.82;QD=18.57;RankSumP=0.00428801;SB=-1254.22;SecondBestBaseQ=30;refseq.chr=chr6;refseq.end=10538157;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=865;refseq.name=NR_027793;refseq.name2=C6orf218;refseq.positionType=non_coding_exon;refseq.spliceDist=376;refseq.start=10538157;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 1/0 chr6 10695024 . C G 109.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.84;MQ0=0;OQ=19181.65;QD=47.83;RankSumP=1.00000;SB=-8530.20;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.816C>G;refseq.codonCoord_3=272;refseq.end_1=10729559;refseq.end_2=10729559;refseq.end_3=10695024;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1046;refseq.name2_1=GCNT2;refseq.name2_2=GCNT2;refseq.name2_3=GCNT2;refseq.name_1=NM_145649;refseq.name_2=NM_001491;refseq.name_3=NM_145655;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D272E;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAC;refseq.spliceDist_3=-110;refseq.start_1=10638066;refseq.start_2=10665572;refseq.start_3=10695024;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr6 10734690 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1067T>G;refseq.codingCoordStr_2=c.1073T>G;refseq.codingCoordStr_3=c.1073T>G;refseq.codonCoord_1=356;refseq.codonCoord_2=358;refseq.codonCoord_3=358;refseq.end_1=10734690;refseq.end_2=10734690;refseq.end_3=10734690;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1775;refseq.mrnaCoord_2=1624;refseq.mrnaCoord_3=1303;refseq.name2_1=GCNT2;refseq.name2_2=GCNT2;refseq.name2_3=GCNT2;refseq.name_1=NM_001491;refseq.name_2=NM_145649;refseq.name_3=NM_145655;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V356G;refseq.proteinCoordStr_2=p.V358G;refseq.proteinCoordStr_3=p.V358G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=10734690;refseq.start_2=10734690;refseq.start_3=10734690;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr6 10803275 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.71G>T;refseq.codonCoord=24;refseq.end=10803275;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_017906;refseq.name2=PAK1IP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C24F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-14;refseq.start=10803275;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr6 10812989 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.666A>G;refseq.codonCoord=222;refseq.end=10812989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_017906;refseq.name2=PAK1IP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G222G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=24;refseq.start=10812989;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 10817618 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.82;MQ0=0;OQ=2397.82;QD=14.99;RankSumP=0.403816;SB=-803.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1126G>A;refseq.codonCoord=376;refseq.end=10817618;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1157;refseq.name=NM_017906;refseq.name2=PAK1IP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V376I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=162;refseq.start=10817618;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr6 10872713 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.72;MQ0=0;OQ=2211.76;QD=8.44;RankSumP=0.110656;SB=-1063.74;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1830T>C;refseq.codonCoord=610;refseq.end=10872713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2059;refseq.name=NM_005906;refseq.name2=MAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H610H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=113;refseq.start=10872713;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 10999767 . C T 337.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.84;MQ0=0;OQ=7609.53;QD=40.91;RankSumP=1.00000;SB=-3012.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=10999767;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_001040274;refseq.name2=SYCP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.D15D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-34;refseq.start=10999767;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 11002367 . G A 312.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.86;MQ0=0;OQ=7369.16;QD=21.67;RankSumP=0.331875;SB=-2741.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.280G>A;refseq.codonCoord=94;refseq.end=11002367;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_001040274;refseq.name2=SYCP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V94I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-57;refseq.start=11002367;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr6 11063394 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=657;Dels=0.00;HRun=1;HaplotypeScore=6.97;MQ=98.53;MQ0=0;OQ=27898.10;QD=42.46;RankSumP=1.00000;SB=-12760.26;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2014C>T;refseq.codonCoord=672;refseq.end=11063394;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2310;refseq.name=NM_001040274;refseq.name2=SYCP2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P672S;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-43;refseq.start=11063394;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr6 11113690 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.156T>G;refseq.codonCoord=52;refseq.end=11113690;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_017770;refseq.name2=ELOVL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G52G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=89;refseq.start=11113690;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 11298584 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1504A>C;refseq.codingCoordStr_2=c.1504A>C;refseq.codonCoord_1=502;refseq.codonCoord_2=502;refseq.end_1=11298584;refseq.end_2=11298584;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1866;refseq.mrnaCoord_2=1671;refseq.name2_1=NEDD9;refseq.name2_2=NEDD9;refseq.name_1=NM_001142393;refseq.name_2=NM_006403;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T502P;refseq.proteinCoordStr_2=p.T502P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-402;refseq.spliceDist_2=-402;refseq.start_1=11298584;refseq.start_2=11298584;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 11298612 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=12.11;MQ=98.91;MQ0=0;OQ=2567.14;QD=11.46;RankSumP=0.0350688;SB=-475.13;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1476T>C;refseq.codingCoordStr_2=c.1476T>C;refseq.codonCoord_1=492;refseq.codonCoord_2=492;refseq.end_1=11298612;refseq.end_2=11298612;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1838;refseq.mrnaCoord_2=1643;refseq.name2_1=NEDD9;refseq.name2_2=NEDD9;refseq.name_1=NM_001142393;refseq.name_2=NM_006403;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V492V;refseq.proteinCoordStr_2=p.V492V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-430;refseq.spliceDist_2=-430;refseq.start_1=11298612;refseq.start_2=11298612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr6 11321818 . T C 275.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=9.39;MQ=98.76;MQ0=0;OQ=7494.18;QD=16.88;RankSumP=0.0507268;SB=-3061.48;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.141A>G;refseq.codingCoordStr_2=c.141A>G;refseq.codingCoordStr_3=c.141A>G;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.codonCoord_3=47;refseq.end_1=11321818;refseq.end_2=11321818;refseq.end_3=11321818;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=503;refseq.mrnaCoord_2=308;refseq.mrnaCoord_3=308;refseq.name2_1=NEDD9;refseq.name2_2=NEDD9;refseq.name2_3=NEDD9;refseq.name_1=NM_001142393;refseq.name_2=NM_006403;refseq.name_3=NM_182966;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S47S;refseq.proteinCoordStr_2=p.S47S;refseq.proteinCoordStr_3=p.S47S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=129;refseq.spliceDist_2=129;refseq.spliceDist_3=129;refseq.start_1=11321818;refseq.start_2=11321818;refseq.start_3=11321818;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr6 12228431 . A G 354.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=98.87;MQ0=0;OQ=7025.10;QD=20.66;RankSumP=0.249872;SB=-1761.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.417A>G;refseq.codonCoord=139;refseq.end=12228431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q139Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=323;refseq.start=12228431;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr6 12228574 . C T 142.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=20.61;MQ=98.78;MQ0=0;OQ=9767.99;QD=21.66;RankSumP=0.104139;SB=-2893.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.560C>T;refseq.codonCoord=187;refseq.end=12228574;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=466;refseq.start=12228574;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr6 12230160 . A G 352.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.80;MQ0=0;OQ=4835.17;QD=18.89;RankSumP=0.0249409;SB=-1616.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2146A>G;refseq.codonCoord=716;refseq.end=12230160;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2325;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T716A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=2052;refseq.start=12230160;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 12230631 . A G 207.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=98.84;MQ0=0;OQ=16902.95;QD=38.07;RankSumP=1.00000;SB=-8107.60;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2617A>G;refseq.codonCoord=873;refseq.end=12230631;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2796;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T873A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=2523;refseq.start=12230631;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 12231235 . A G 271.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.92;MQ0=0;OQ=2037.12;QD=16.70;RankSumP=0.187335;SB=-787.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3221A>G;refseq.codonCoord=1074;refseq.end=12231235;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3400;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1074S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-2855;refseq.start=12231235;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr6 12232841 . G A 159.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=495;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.85;MQ0=0;OQ=10332.02;QD=20.87;RankSumP=0.277981;SB=-4237.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4827G>A;refseq.codonCoord=1609;refseq.end=12232841;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5006;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1609I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-1249;refseq.start=12232841;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr6 12233758 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=15.29;MQ=98.77;MQ0=0;OQ=4991.58;QD=19.05;RankSumP=0.263781;SB=-1469.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5744A>G;refseq.codonCoord=1915;refseq.end=12233758;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5923;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1915R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-332;refseq.start=12233758;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr6 12270127 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.6957A>G;refseq.codonCoord=2319;refseq.end=12270127;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7136;refseq.name=NM_002114;refseq.name2=HIVEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-22;refseq.start=12270127;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 12398892 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=264;Dels=0.00;HRun=2;HaplotypeScore=43.88;MQ=97.02;MQ0=0;OQ=243.46;QD=0.92;RankSumP=0.00000;SB=363.24;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.44G>T;refseq.codingCoordStr_2=c.44G>T;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=12398892;refseq.end_2=12398892;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=378;refseq.mrnaCoord_2=378;refseq.name2_1=EDN1;refseq.name2_2=EDN1;refseq.name_1=NM_001168319;refseq.name_2=NM_001955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C15F;refseq.proteinCoordStr_2=p.C15F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=12398892;refseq.start_2=12398892;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr6 12402244 . A G 323.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.84;MQ0=0;OQ=5297.11;QD=19.91;RankSumP=0.289115;SB=-1231.38;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.315A>G;refseq.codingCoordStr_2=c.318A>G;refseq.codonCoord_1=105;refseq.codonCoord_2=106;refseq.end_1=12402244;refseq.end_2=12402244;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=649;refseq.mrnaCoord_2=652;refseq.name2_1=EDN1;refseq.name2_2=EDN1;refseq.name_1=NM_001168319;refseq.name_2=NM_001955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E105E;refseq.proteinCoordStr_2=p.E106E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=12402244;refseq.start_2=12402244;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr6 13707282 . C T 303.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=98.32;MQ0=0;OQ=2421.95;QD=16.15;RankSumP=0.197579;SB=-1193.22;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.657C>T;refseq.codingCoordStr_2=c.657C>T;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=13707282;refseq.end_2=13707282;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=953;refseq.mrnaCoord_2=916;refseq.name2_1=SIRT5;refseq.name2_2=SIRT5;refseq.name_1=NM_012241;refseq.name_2=NM_031244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H219H;refseq.proteinCoordStr_2=p.H219H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=13707282;refseq.start_2=13707282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr6 13765375 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.849T>G;refseq.codonCoord=283;refseq.end=13765375;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_005493;refseq.name2=RANBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C283W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-56;refseq.start=13765375;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr6 13909594 . T C 236.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.05;MQ0=0;OQ=1192.21;QD=16.56;RankSumP=0.113667;SB=-371.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.646A>G;refseq.codonCoord=216;refseq.end=13909594;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_001031713;refseq.name2=CCDC90A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T216A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=13909594;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 15576855 . C G 196.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=13.48;MQ=98.85;MQ0=0;OQ=8040.01;QD=20.94;RankSumP=0.326513;SB=-3230.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.597C>G;refseq.codonCoord=199;refseq.end=15576855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_004973;refseq.name2=JARID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-74;refseq.start=15576855;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr6 15604641 . C T 223.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=11.02;MQ=98.06;MQ0=0;OQ=2478.73;QD=15.11;RankSumP=0.0499718;SB=-862.74;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1206C>T;refseq.codonCoord=402;refseq.end=15604641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1450;refseq.name=NM_004973;refseq.name2=JARID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P402P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=300;refseq.start=15604641;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr6 15621461 . G A 199.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=87.65;MQ0=0;OQ=205.05;QD=20.51;RankSumP=1.00000;SB=-93.11;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3279G>A;refseq.codonCoord=1093;refseq.end=15621461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3523;refseq.name=NM_004973;refseq.name2=JARID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1093L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=13;refseq.start=15621461;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 16253304 . A G 183.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.72;MQ0=0;OQ=369.71;QD=17.61;RankSumP=0.246011;SB=-110.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1025A>G;refseq.codonCoord=342;refseq.end=16253304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1262;refseq.name=NM_013262;refseq.name2=MYLIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N342S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=198;refseq.start=16253304;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr6 16398740 . T A 309.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=6.12;MQ=98.67;MQ0=0;OQ=4511.21;QD=15.88;RankSumP=0.257808;SB=-1416.44;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.766T>A;refseq.codonCoord=256;refseq.end=16398740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_006877;refseq.name2=GMPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.F256I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=69;refseq.start=16398740;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr6 16435594 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=6.92;MQ=98.50;MQ0=0;OQ=936.85;QD=7.26;RankSumP=0.200794;SB=-252.22;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.927T>C;refseq.codingCoordStr_2=c.927T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=16435594;refseq.end_2=16435594;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1898;refseq.mrnaCoord_2=1849;refseq.name2_1=ATXN1;refseq.name2_2=ATXN1;refseq.name_1=NM_000332;refseq.name_2=NM_001128164;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A309A;refseq.proteinCoordStr_2=p.A309A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-991;refseq.spliceDist_2=-991;refseq.start_1=16435594;refseq.start_2=16435594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr6 16436457 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.64A>C;refseq.codingCoordStr_2=c.64A>C;refseq.codonCoord_1=22;refseq.codonCoord_2=22;refseq.end_1=16436457;refseq.end_2=16436457;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1035;refseq.mrnaCoord_2=986;refseq.name2_1=ATXN1;refseq.name2_2=ATXN1;refseq.name_1=NM_000332;refseq.name_2=NM_001128164;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T22P;refseq.proteinCoordStr_2=p.T22P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=224;refseq.spliceDist_2=224;refseq.start_1=16436457;refseq.start_2=16436457;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 17651281 . A G 193.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=953.30;QD=19.86;RankSumP=0.692250;SB=-420.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1137A>G;refseq.codonCoord=379;refseq.end=17651281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_006366;refseq.name2=CAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K379K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=11;refseq.start=17651281;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 17708983 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=2.31976e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.364T>G;refseq.codonCoord=122;refseq.end=17708983;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_016255;refseq.name2=FAM8A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W122G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-349;refseq.start=17708983;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 17734313 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3606A>C;refseq.codonCoord=1202;refseq.end=17734313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3806;refseq.name=NM_005124;refseq.name2=NUP153;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1202T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=62;refseq.start=17734313;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 17737595 . G A 318.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=99.00;MQ0=0;OQ=9678.49;QD=43.21;RankSumP=1.00000;SB=-3868.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2814C>T;refseq.codonCoord=938;refseq.end=17737595;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3014;refseq.name=NM_005124;refseq.name2=NUP153;refseq.positionType=CDS;refseq.proteinCoordStr=p.S938S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=155;refseq.start=17737595;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr6 17741040 . C T 274.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=646.27;QD=35.90;RankSumP=1.00000;SB=-85.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2479G>A;refseq.codonCoord=827;refseq.end=17741040;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2679;refseq.name=NM_005124;refseq.name2=NUP153;refseq.positionType=CDS;refseq.proteinCoordStr=p.A827T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=15;refseq.start=17741040;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr6 17773458 . G C 235.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=5563.40;QD=47.96;RankSumP=1.00000;SB=-1886.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1206C>G;refseq.codonCoord=402;refseq.end=17773458;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1406;refseq.name=NM_005124;refseq.name2=NUP153;refseq.positionType=CDS;refseq.proteinCoordStr=p.N402K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=17773458;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 17783225 . T C 389.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.36;MQ0=0;OQ=10819.67;QD=42.43;RankSumP=1.00000;SB=-3645.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.742A>G;refseq.codonCoord=248;refseq.end=17783225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_005124;refseq.name2=NUP153;refseq.positionType=CDS;refseq.proteinCoordStr=p.I248V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=19;refseq.start=17783225;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 18316394 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=441;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=98.88;MQ0=0;OQ=8129.22;QD=18.43;RankSumP=0.231085;SB=-3219.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1148G>A;refseq.codonCoord=383;refseq.end=18316394;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1389;refseq.name=NM_153042;refseq.name2=KDM1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G383D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-23;refseq.start=18316394;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr6 18321967 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=407;Dels=0.00;HRun=0;HaplotypeScore=21.88;MQ=98.88;MQ0=0;OQ=8471.91;QD=20.82;RankSumP=0.103976;SB=-3014.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1389C>T;refseq.codonCoord=463;refseq.end=18321967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1630;refseq.name=NM_153042;refseq.name2=KDM1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A463A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-25;refseq.start=18321967;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr6 18323282 . T C 370.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.68;MQ0=0;OQ=5120.78;QD=35.32;RankSumP=1.00000;SB=-1830.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1479T>C;refseq.codonCoord=493;refseq.end=18323282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1720;refseq.name=NM_153042;refseq.name2=KDM1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D493D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-58;refseq.start=18323282;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr6 21173429 . A G 199.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=1;HaplotypeScore=6.72;MQ=98.67;MQ0=0;OQ=11492.64;QD=39.09;RankSumP=1.00000;SB=-4397.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1227A>G;refseq.codonCoord=409;refseq.end=21173429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_017774;refseq.name2=CDKAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P409P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=21173429;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr6 21309472 . G A 339.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.51;MQ=98.57;MQ0=0;OQ=10015.11;QD=41.90;RankSumP=1.00000;SB=-3283.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1536G>A;refseq.codonCoord=512;refseq.end=21309472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1703;refseq.name=NM_017774;refseq.name2=CDKAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S512S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-13;refseq.start=21309472;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr6 22678168 . T C 173.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=15;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=90.63;MQ0=0;OQ=170.17;QD=21.27;RankSumP=1.00000;SB=-104.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.385T>C;refseq.codonCoord=129;refseq.end=22678168;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_138574;refseq.name2=HDGFL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L129L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=512;refseq.start=22678168;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr6 22678224 . G A 183.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.93;MQ0=0;OQ=287.96;QD=35.99;RankSumP=1.00000;SB=-136.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.441G>A;refseq.codonCoord=147;refseq.end=22678224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_138574;refseq.name2=HDGFL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R147R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-506;refseq.start=22678224;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=filterInsoap-gatk GT 1/1 chr6 24399182 . T C 282.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=98.69;MQ0=0;OQ=5756.11;QD=36.20;RankSumP=1.00000;SB=-2523.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.661A>G;refseq.codonCoord=221;refseq.end=24399182;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_016356;refseq.name2=DCDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S221G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-44;refseq.start=24399182;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr6 24523359 . G A 107.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.65;MQ0=0;OQ=5339.39;QD=21.44;RankSumP=0.483507;SB=-1748.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=24523359;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_020662;refseq.name2=MRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q236Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-12;refseq.start=24523359;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr6 24545424 . G A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=585;Dels=0.00;HRun=0;HaplotypeScore=36.13;MQ=98.54;MQ0=0;OQ=20843.31;QD=35.63;RankSumP=1.00000;SB=-10142.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2093C>T;refseq.codonCoord=698;refseq.end=24545424;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2204;refseq.name=NM_001503;refseq.name2=GPLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T698I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=73;refseq.start=24545424;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 24597631 . C T 461.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=98.82;MQ0=0;OQ=10778.73;QD=40.83;RankSumP=1.00000;SB=-2272.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.88G>A;refseq.codingCoordStr_2=c.88G>A;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=24597631;refseq.end_2=24597631;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=199;refseq.mrnaCoord_2=148;refseq.name2_1=GPLD1;refseq.name2_2=GPLD1;refseq.name_1=NM_001503;refseq.name_2=NM_177483;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V30I;refseq.proteinCoordStr_2=p.V30I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=24597631;refseq.start_2=24597631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr6 24597720 . A C 267.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=9.23;MQ=98.82;MQ0=0;OQ=11372.85;QD=39.08;RankSumP=1.00000;SB=-2831.32;SecondBestBaseQ=0;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.-2T>G;refseq.codingCoordStr_2=c.-2T>G;refseq.end_1=24597720;refseq.end_2=24597720;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=110;refseq.mrnaCoord_2=59;refseq.name2_1=GPLD1;refseq.name2_2=GPLD1;refseq.name_1=NM_001503;refseq.name_2=NM_177483;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=-99;refseq.spliceDist_2=59;refseq.start_1=24597720;refseq.start_2=24597720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr6 24611569 . C T 326.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.23;MQ0=0;OQ=4467.92;QD=17.59;RankSumP=0.191878;SB=-1071.23;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.538C>T;refseq.codingCoordStr_2=c.538C>T;refseq.codonCoord_1=180;refseq.codonCoord_2=180;refseq.end_1=24611569;refseq.end_2=24611569;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=566;refseq.name2_1=ALDH5A1;refseq.name2_2=ALDH5A1;refseq.name_1=NM_001080;refseq.name_2=NM_170740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H180Y;refseq.proteinCoordStr_2=p.H180Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=24611569;refseq.start_2=24611569;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr6 24667260 . A G 112.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=1219.40;QD=14.87;RankSumP=0.204146;SB=-418.97;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.2667T>C;refseq.codingCoordStr_2=c.2694T>C;refseq.codingCoordStr_3=c.2559T>C;refseq.codingCoordStr_4=c.2694T>C;refseq.codingCoordStr_5=c.2694T>C;refseq.codonCoord_1=889;refseq.codonCoord_2=898;refseq.codonCoord_3=853;refseq.codonCoord_4=898;refseq.codonCoord_5=898;refseq.end_1=24667260;refseq.end_2=24667260;refseq.end_3=24667260;refseq.end_4=24667260;refseq.end_5=24667260;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3310;refseq.mrnaCoord_2=3194;refseq.mrnaCoord_3=3034;refseq.mrnaCoord_4=3219;refseq.mrnaCoord_5=3219;refseq.name2_1=KIAA0319;refseq.name2_2=KIAA0319;refseq.name2_3=KIAA0319;refseq.name2_4=KIAA0319;refseq.name2_5=KIAA0319;refseq.name_1=NM_001168374;refseq.name_2=NM_001168375;refseq.name_3=NM_001168376;refseq.name_4=NM_001168377;refseq.name_5=NM_014809;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A889A;refseq.proteinCoordStr_2=p.A898A;refseq.proteinCoordStr_3=p.A853A;refseq.proteinCoordStr_4=p.A898A;refseq.proteinCoordStr_5=p.A898A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.spliceDist_4=-41;refseq.spliceDist_5=-41;refseq.start_1=24667260;refseq.start_2=24667260;refseq.start_3=24667260;refseq.start_4=24667260;refseq.start_5=24667260;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 0/1 chr6 24691884 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.993A>G;refseq.codingCoordStr_2=c.1020A>G;refseq.codingCoordStr_3=c.885A>G;refseq.codingCoordStr_4=c.1020A>G;refseq.codingCoordStr_5=c.1020A>G;refseq.codonCoord_1=331;refseq.codonCoord_2=340;refseq.codonCoord_3=295;refseq.codonCoord_4=340;refseq.codonCoord_5=340;refseq.end_1=24691884;refseq.end_2=24691884;refseq.end_3=24691884;refseq.end_4=24691884;refseq.end_5=24691884;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1636;refseq.mrnaCoord_2=1520;refseq.mrnaCoord_3=1360;refseq.mrnaCoord_4=1545;refseq.mrnaCoord_5=1545;refseq.name2_1=KIAA0319;refseq.name2_2=KIAA0319;refseq.name2_3=KIAA0319;refseq.name2_4=KIAA0319;refseq.name2_5=KIAA0319;refseq.name_1=NM_001168374;refseq.name_2=NM_001168375;refseq.name_3=NM_001168376;refseq.name_4=NM_001168377;refseq.name_5=NM_014809;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G331G;refseq.proteinCoordStr_2=p.G340G;refseq.proteinCoordStr_3=p.G295G;refseq.proteinCoordStr_4=p.G340G;refseq.proteinCoordStr_5=p.G340G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.start_1=24691884;refseq.start_2=24691884;refseq.start_3=24691884;refseq.start_4=24691884;refseq.start_5=24691884;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr6 24696863 . C T 216.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=98.14;MQ0=0;OQ=1705.35;QD=16.24;RankSumP=0.483339;SB=-274.55;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.904G>A;refseq.codingCoordStr_2=c.931G>A;refseq.codingCoordStr_3=c.796G>A;refseq.codingCoordStr_4=c.931G>A;refseq.codingCoordStr_5=c.931G>A;refseq.codonCoord_1=302;refseq.codonCoord_2=311;refseq.codonCoord_3=266;refseq.codonCoord_4=311;refseq.codonCoord_5=311;refseq.end_1=24696863;refseq.end_2=24696863;refseq.end_3=24696863;refseq.end_4=24696863;refseq.end_5=24696863;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1547;refseq.mrnaCoord_2=1431;refseq.mrnaCoord_3=1271;refseq.mrnaCoord_4=1456;refseq.mrnaCoord_5=1456;refseq.name2_1=KIAA0319;refseq.name2_2=KIAA0319;refseq.name2_3=KIAA0319;refseq.name2_4=KIAA0319;refseq.name2_5=KIAA0319;refseq.name_1=NM_001168374;refseq.name_2=NM_001168375;refseq.name_3=NM_001168376;refseq.name_4=NM_001168377;refseq.name_5=NM_014809;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A302T;refseq.proteinCoordStr_2=p.A311T;refseq.proteinCoordStr_3=p.A266T;refseq.proteinCoordStr_4=p.A311T;refseq.proteinCoordStr_5=p.A311T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.spliceDist_4=-64;refseq.spliceDist_5=-64;refseq.start_1=24696863;refseq.start_2=24696863;refseq.start_3=24696863;refseq.start_4=24696863;refseq.start_5=24696863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 0/1 chr6 24704457 . T G 80.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=5670.16;QD=41.09;RankSumP=1.00000;SB=-2151.55;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.397A>C;refseq.codingCoordStr_2=c.424A>C;refseq.codingCoordStr_3=c.289A>C;refseq.codingCoordStr_4=c.424A>C;refseq.codingCoordStr_5=c.424A>C;refseq.codonCoord_1=133;refseq.codonCoord_2=142;refseq.codonCoord_3=97;refseq.codonCoord_4=142;refseq.codonCoord_5=142;refseq.end_1=24704457;refseq.end_2=24704457;refseq.end_3=24704457;refseq.end_4=24704457;refseq.end_5=24704457;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1040;refseq.mrnaCoord_2=924;refseq.mrnaCoord_3=764;refseq.mrnaCoord_4=949;refseq.mrnaCoord_5=949;refseq.name2_1=KIAA0319;refseq.name2_2=KIAA0319;refseq.name2_3=KIAA0319;refseq.name2_4=KIAA0319;refseq.name2_5=KIAA0319;refseq.name_1=NM_001168374;refseq.name_2=NM_001168375;refseq.name_3=NM_001168376;refseq.name_4=NM_001168377;refseq.name_5=NM_014809;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T133P;refseq.proteinCoordStr_2=p.T142P;refseq.proteinCoordStr_3=p.T97P;refseq.proteinCoordStr_4=p.T142P;refseq.proteinCoordStr_5=p.T142P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=369;refseq.spliceDist_2=369;refseq.spliceDist_3=369;refseq.spliceDist_4=369;refseq.spliceDist_5=369;refseq.start_1=24704457;refseq.start_2=24704457;refseq.start_3=24704457;refseq.start_4=24704457;refseq.start_5=24704457;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=Intersection GT 1/1 chr6 24761355 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=526.27;QD=25.06;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.642C>T;refseq.codonCoord=214;refseq.end=24761355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_016614;refseq.name2=TTRAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N214N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=24761355;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr6 24814420 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.614A>C;refseq.codonCoord=205;refseq.end=24814420;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_030939;refseq.name2=C6orf62;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y205S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=50;refseq.start=24814420;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr6 25834600 . C T 154.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.81;MQ0=0;OQ=2075.89;QD=13.93;RankSumP=0.0651233;SB=-563.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.135G>A;refseq.codonCoord=45;refseq.end=25834600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_170745;refseq.name2=HIST1H2AA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=170;refseq.start=25834600;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr6 25834654 . G A 199.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=15.73;MQ=98.84;MQ0=0;OQ=4758.94;QD=21.34;RankSumP=0.00788961;SB=-1395.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=25834654;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=116;refseq.name=NM_170745;refseq.name2=HIST1H2AA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=116;refseq.start=25834654;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr6 25835244 . C T 146.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=98.93;MQ0=0;OQ=6418.81;QD=23.86;RankSumP=0.390734;SB=-2603.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.129C>T;refseq.codonCoord=43;refseq.end=25835244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=129;refseq.name=NM_170610;refseq.name2=HIST1H2BA;refseq.positionType=CDS;refseq.proteinCoordStr=p.I43I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=129;refseq.start=25835244;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr6 25835313 . C T 134.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=2;HaplotypeScore=8.79;MQ=98.84;MQ0=0;OQ=5336.52;QD=20.68;RankSumP=0.404284;SB=-1980.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.198C>T;refseq.codonCoord=66;refseq.end=25835313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_170610;refseq.name2=HIST1H2BA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S66S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=198;refseq.start=25835313;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr6 25835496 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=1.31;MQ=98.78;MQ0=0;OQ=2014.37;QD=13.00;RankSumP=0.355192;SB=-851.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.381G>A;refseq.codonCoord=127;refseq.end=25835496;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_170610;refseq.name2=HIST1H2BA;refseq.positionType=CDS;refseq.proteinCoordStr=p.K127K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-57;refseq.start=25835496;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr6 25877328 . T C 171.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=98.71;MQ0=0;OQ=2480.76;QD=14.42;RankSumP=0.188258;SB=-1247.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=25877328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_005495;refseq.name2=SLC17A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A76A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-70;refseq.start=25877328;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr6 25921129 . G A 104.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=13.99;MQ=98.69;MQ0=0;OQ=5198.50;QD=19.04;RankSumP=0.384410;SB=-1683.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.806C>T;refseq.codonCoord=269;refseq.end=25921129;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_005074;refseq.name2=SLC17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T269I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=71;refseq.start=25921129;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr6 25957599 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=98.66;MQ0=0;OQ=2468.97;QD=11.48;RankSumP=0.220086;SB=-955.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1344T>C;refseq.codingCoordStr_2=c.1110T>C;refseq.codonCoord_1=448;refseq.codonCoord_2=370;refseq.end_1=25957599;refseq.end_2=25957599;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1454;refseq.mrnaCoord_2=1220;refseq.name2_1=SLC17A3;refseq.name2_2=SLC17A3;refseq.name_1=NM_001098486;refseq.name_2=NM_006632;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S448S;refseq.proteinCoordStr_2=p.S370S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=25957599;refseq.start_2=25957599;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr6 25970445 . C T 218.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.95;MQ0=0;OQ=3088.18;QD=15.84;RankSumP=0.351370;SB=-461.42;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.298G>A;refseq.codingCoordStr_2=c.298G>A;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=25970445;refseq.end_2=25970445;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=408;refseq.name2_1=SLC17A3;refseq.name2_2=SLC17A3;refseq.name_1=NM_001098486;refseq.name_2=NM_006632;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A100T;refseq.proteinCoordStr_2=p.A100T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=25970445;refseq.start_2=25970445;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr6 26022832 . G A 145.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=8.36;MQ=98.64;MQ0=0;OQ=4924.64;QD=19.16;RankSumP=0.155160;SB=-1837.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1109C>T;refseq.codonCoord=370;refseq.end=26022832;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1527;refseq.name=NM_005835;refseq.name2=SLC17A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S370L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=46;refseq.start=26022832;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr6 26091756 . C T 200.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.14;MQ0=0;OQ=2020.31;QD=17.42;RankSumP=0.166759;SB=-950.50;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1260C>T;refseq.codonCoord=420;refseq.end=26091756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1695;refseq.name=NM_006355;refseq.name2=TRIM38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A420A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=386;refseq.start=26091756;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr6 26125521 . T C 187.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.61;MQ0=0;OQ=2780.30;QD=14.71;RankSumP=0.0890555;SB=-847.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.419A>G;refseq.codonCoord=140;refseq.end=26125521;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_005325;refseq.name2=HIST1H1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K140R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-283;refseq.start=26125521;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr6 26125654 . A G 147.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=17.34;MQ=98.70;MQ0=0;OQ=4196.10;QD=18.01;RankSumP=0.0601035;SB=-1763.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.286T>C;refseq.codonCoord=96;refseq.end=26125654;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_005325;refseq.name2=HIST1H1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=366;refseq.start=26125654;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 26141485 . G A 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=2;HaplotypeScore=10.65;MQ=98.18;MQ0=0;OQ=14727.39;QD=40.68;RankSumP=1.00000;SB=-6465.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.291C>T;refseq.codonCoord=97;refseq.end=26141485;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_003513;refseq.name2=HIST1H2AB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L97L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-187;refseq.start=26141485;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr6 26141620 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=10.63;MQ=97.01;MQ0=0;OQ=921.89;QD=11.24;RankSumP=0.0770729;SB=-408.18;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=26141620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_003513;refseq.name2=HIST1H2AB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L52L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=156;refseq.start=26141620;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr6 26153884 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=5.82;MQ=98.31;MQ0=0;OQ=4489.23;QD=19.69;RankSumP=0.242147;SB=-914.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.267G>C;refseq.codonCoord=89;refseq.end=26153884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_003531;refseq.name2=HIST1H3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A89A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-193;refseq.start=26153884;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr6 26153908 . T C 192.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=98.19;MQ0=0;OQ=9175.97;QD=37.30;RankSumP=1.00000;SB=-3725.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.291T>C;refseq.codonCoord=97;refseq.end=26153908;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_003531;refseq.name2=HIST1H3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C97C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-169;refseq.start=26153908;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr6 26164406 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.230A>C;refseq.codonCoord=77;refseq.end=26164406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_005319;refseq.name2=HIST1H1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N77T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=273;refseq.start=26164406;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 26164528 . A G 93.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.02;MQ0=0;OQ=1486.23;QD=32.31;RankSumP=1.00000;SB=-335.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.108T>C;refseq.codonCoord=36;refseq.end=26164528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_005319;refseq.name2=HIST1H1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=151;refseq.start=26164528;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr6 26164621 . A G 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.500000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.15T>C;refseq.codonCoord=5;refseq.end=26164621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=58;refseq.name=NM_005319;refseq.name2=HIST1H1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A5A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=58;refseq.start=26164621;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr6 26216059 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.242A>C;refseq.codonCoord=81;refseq.end=26216059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_005323;refseq.name2=HIST1H1T;refseq.positionType=CDS;refseq.proteinCoordStr=p.N81T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=285;refseq.start=26216059;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 26216261 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.40G>T;refseq.codonCoord=14;refseq.end=26216261;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=83;refseq.name=NM_005323;refseq.name2=HIST1H1T;refseq.positionType=CDS;refseq.proteinCoordStr=p.V14L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=83;refseq.start=26216261;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr6 26264827 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.230A>C;refseq.codonCoord=77;refseq.end=26264827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_005321;refseq.name2=HIST1H1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.N77T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=290;refseq.start=26264827;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 26307882 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1104;Dels=0.00;HRun=0;HaplotypeScore=31.47;MQ=87.84;MQ0=0;OQ=22052.19;QD=19.97;RankSumP=0.0927418;SB=-6261.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=26307882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_003522;refseq.name2=HIST1H2BF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S39S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=117;refseq.start=26307882;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr6 26342908 . T G 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=2.86634e-05;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.233A>C;refseq.codonCoord=78;refseq.end=26342908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_005320;refseq.name2=HIST1H1D;refseq.positionType=CDS;refseq.proteinCoordStr=p.N78T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=288;refseq.start=26342908;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 26476917 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=2013;Dels=0.00;HRun=0;HaplotypeScore=38.45;MQ=19.49;MQ0=897;OQ=20766.26;QD=10.32;RankSumP=1.00000;SB=-6706.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=26476917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=480;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N77N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=146;refseq.start=26476917;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap-filterIngatk GT 1/1 chr6 26478551 . C T 166.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=97.84;MQ0=0;OQ=4314.58;QD=19.88;RankSumP=0.353275;SB=-1440.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.456C>T;refseq.codonCoord=152;refseq.end=26478551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V152V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=23;refseq.start=26478551;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 26478584 . T C 256.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.30;MQ0=0;OQ=10550.69;QD=39.66;RankSumP=1.00000;SB=-4510.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.489T>C;refseq.codonCoord=163;refseq.end=26478584;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H163H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=56;refseq.start=26478584;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr6 26478609 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.514T>G;refseq.codonCoord=172;refseq.end=26478609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y172D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=81;refseq.start=26478609;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr6 26478636 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=20.82;MQ=97.60;MQ0=0;OQ=5343.71;QD=13.95;RankSumP=0.0657803;SB=-1989.87;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.541A>G;refseq.codonCoord=181;refseq.end=26478636;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N181D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=108;refseq.start=26478636;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 26478638 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=20.50;MQ=97.62;MQ0=0;OQ=6252.80;QD=16.16;RankSumP=0.0166322;SB=-2269.65;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.543C>T;refseq.codonCoord=181;refseq.end=26478638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N181N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=110;refseq.start=26478638;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr6 26478686 . T C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=97.37;MQ0=0;OQ=12711.97;QD=31.94;RankSumP=1.00000;SB=-4576.13;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.591T>C;refseq.codonCoord=197;refseq.end=26478686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D197D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-125;refseq.start=26478686;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr6 26478727 . G A 123.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=7.01;MQ=96.37;MQ0=0;OQ=5588.23;QD=19.75;RankSumP=0.197530;SB=-1225.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.632G>A;refseq.codonCoord=211;refseq.end=26478727;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R211K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-84;refseq.start=26478727;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr6 26481129 . C T 195.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=9.75;MQ=93.24;MQ0=0;OQ=4848.57;QD=18.79;RankSumP=0.498080;SB=-1647.11;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.741C>T;refseq.codonCoord=247;refseq.end=26481129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P247P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=26;refseq.start=26481129;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr6 26481486 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=33.05;MQ=97.31;MQ0=0;OQ=5383.68;QD=18.96;RankSumP=0.154880;SB=-1210.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.920G>A;refseq.codonCoord=307;refseq.end=26481486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_007047;refseq.name2=BTN3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S307N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=26481486;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr6 26501000 . G A 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=487;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=73.91;MQ0=141;OQ=14443.78;QD=29.66;RankSumP=1.00000;SB=-5289.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1398G>A;refseq.codingCoordStr_2=c.1050G>A;refseq.codonCoord_1=466;refseq.codonCoord_2=350;refseq.end_1=26501000;refseq.end_2=26501000;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1136;refseq.name2_1=BTN2A2;refseq.name2_2=BTN2A2;refseq.name_1=NM_006995;refseq.name_2=NM_181531;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S466S;refseq.proteinCoordStr_2=p.S350S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=419;refseq.spliceDist_2=419;refseq.start_1=26501000;refseq.start_2=26501000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr6 26513814 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.97;MQ0=0;OQ=12193.42;QD=23.40;RankSumP=0.131657;SB=-5069.59;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.44G>A;refseq.codingCoordStr_2=c.44G>A;refseq.codingCoordStr_3=c.44G>A;refseq.codingCoordStr_4=c.44G>A;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.codonCoord_4=15;refseq.end_1=26513814;refseq.end_2=26513814;refseq.end_3=26513814;refseq.end_4=26513814;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=412;refseq.mrnaCoord_3=412;refseq.mrnaCoord_4=242;refseq.name2_1=BTN3A1;refseq.name2_2=BTN3A1;refseq.name2_3=BTN3A1;refseq.name2_4=BTN3A1;refseq.name_1=NM_001145008;refseq.name_2=NM_001145009;refseq.name_3=NM_007048;refseq.name_4=NM_194441;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R15H;refseq.proteinCoordStr_2=p.R15H;refseq.proteinCoordStr_3=p.R15H;refseq.proteinCoordStr_4=p.R15H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.start_1=26513814;refseq.start_2=26513814;refseq.start_3=26513814;refseq.start_4=26513814;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 1/0 chr6 26514234 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=7.38;MQ=67.05;MQ0=86;OQ=4413.83;QD=22.87;RankSumP=1.00000;SB=26.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.204G>A;refseq.codingCoordStr_2=c.204G>A;refseq.codingCoordStr_3=c.204G>A;refseq.codingCoordStr_4=c.204G>A;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.codonCoord_4=68;refseq.end_1=26514234;refseq.end_2=26514234;refseq.end_3=26514234;refseq.end_4=26514234;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=572;refseq.mrnaCoord_2=572;refseq.mrnaCoord_3=572;refseq.mrnaCoord_4=402;refseq.name2_1=BTN3A1;refseq.name2_2=BTN3A1;refseq.name2_3=BTN3A1;refseq.name2_4=BTN3A1;refseq.name_1=NM_001145008;refseq.name_2=NM_001145009;refseq.name_3=NM_007048;refseq.name_4=NM_194441;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V68V;refseq.proteinCoordStr_2=p.V68V;refseq.proteinCoordStr_3=p.V68V;refseq.proteinCoordStr_4=p.V68V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=119;refseq.spliceDist_2=119;refseq.spliceDist_3=119;refseq.spliceDist_4=119;refseq.start_1=26514234;refseq.start_2=26514234;refseq.start_3=26514234;refseq.start_4=26514234;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 1/1 chr6 26515958 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.514T>G;refseq.codingCoordStr_3=c.514T>G;refseq.codingCoordStr_4=c.514T>G;refseq.codonCoord_2=172;refseq.codonCoord_3=172;refseq.codonCoord_4=172;refseq.end_1=26516023;refseq.end_2=26515958;refseq.end_3=26515958;refseq.end_4=26515958;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=882;refseq.mrnaCoord_3=882;refseq.mrnaCoord_4=712;refseq.name2_1=BTN3A1;refseq.name2_2=BTN3A1;refseq.name2_3=BTN3A1;refseq.name2_4=BTN3A1;refseq.name_1=NM_001145008;refseq.name_2=NM_001145009;refseq.name_3=NM_007048;refseq.name_4=NM_194441;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y172D;refseq.proteinCoordStr_3=p.Y172D;refseq.proteinCoordStr_4=p.Y172D;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.spliceDist_4=81;refseq.start_1=26514474;refseq.start_2=26515958;refseq.start_3=26515958;refseq.start_4=26515958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 1/0 chr6 26517869 . G C 190.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.90;MQ0=0;OQ=1970.11;QD=20.74;RankSumP=0.264825;SB=-953.89;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.689G>C;refseq.codingCoordStr_2=c.845G>C;refseq.codingCoordStr_3=c.845G>C;refseq.codingCoordStr_4=c.845G>C;refseq.codonCoord_1=230;refseq.codonCoord_2=282;refseq.codonCoord_3=282;refseq.codonCoord_4=282;refseq.end_1=26517869;refseq.end_2=26517869;refseq.end_3=26517869;refseq.end_4=26517869;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1057;refseq.mrnaCoord_2=1213;refseq.mrnaCoord_3=1213;refseq.mrnaCoord_4=1043;refseq.name2_1=BTN3A1;refseq.name2_2=BTN3A1;refseq.name2_3=BTN3A1;refseq.name2_4=BTN3A1;refseq.name_1=NM_001145008;refseq.name_2=NM_001145009;refseq.name_3=NM_007048;refseq.name_4=NM_194441;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R230T;refseq.proteinCoordStr_2=p.R282T;refseq.proteinCoordStr_3=p.R282T;refseq.proteinCoordStr_4=p.R282T;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.spliceDist_4=-72;refseq.start_1=26517869;refseq.start_2=26517869;refseq.start_3=26517869;refseq.start_4=26517869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 0/1 chr6 26521723 . C A 345.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=12.13;MQ=98.78;MQ0=0;OQ=6671.86;QD=18.74;RankSumP=0.0554392;SB=-2176.02;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1210C>A;refseq.codingCoordStr_2=c.*986C>A;refseq.codingCoordStr_3=c.1366C>A;refseq.codingCoordStr_4=c.*771C>A;refseq.codonCoord_1=404;refseq.codonCoord_3=456;refseq.end_1=26521723;refseq.end_2=26521723;refseq.end_3=26521723;refseq.end_4=26521723;refseq.frame_1=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=1578;refseq.mrnaCoord_2=2491;refseq.mrnaCoord_3=1734;refseq.mrnaCoord_4=2028;refseq.name2_1=BTN3A1;refseq.name2_2=BTN3A1;refseq.name2_3=BTN3A1;refseq.name2_4=BTN3A1;refseq.name_1=NM_001145008;refseq.name_2=NM_001145009;refseq.name_3=NM_007048;refseq.name_4=NM_194441;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.proteinCoordStr_1=p.P404T;refseq.proteinCoordStr_3=p.P456T;refseq.referenceAA_1=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=348;refseq.spliceDist_2=1105;refseq.spliceDist_3=348;refseq.spliceDist_4=812;refseq.start_1=26521723;refseq.start_2=26521723;refseq.start_3=26521723;refseq.start_4=26521723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/0 chr6 26530333 . C T 13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=71.37;MQ0=20;OQ=1646.32;QD=5.16;RankSumP=0.116773;SB=-821.43;SecondBestBaseQ=34;refseq.chr=chr6;refseq.end=26530333;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=272;refseq.name=NR_027795;refseq.name2=BTN2A3;refseq.positionType=non_coding_exon;refseq.spliceDist=38;refseq.start=26530333;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 0/1 chr6 26531296 . G A 354.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=7.91;MQ=98.50;MQ0=0;OQ=7117.22;QD=18.58;RankSumP=0.00588085;SB=-2512.22;SecondBestBaseQ=31;refseq.chr=chr6;refseq.end=26531296;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=500;refseq.name=NR_027795;refseq.name2=BTN2A3;refseq.positionType=non_coding_exon;refseq.spliceDist=157;refseq.start=26531296;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 1/0 chr6 26534466 . G A 305.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=98.43;MQ0=0;OQ=2701.73;QD=18.89;RankSumP=0.366620;SB=-896.39;SecondBestBaseQ=30;refseq.chr=chr6;refseq.end=26534466;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1188;refseq.name=NR_027795;refseq.name2=BTN2A3;refseq.positionType=non_coding_exon;refseq.spliceDist=18;refseq.start=26534466;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 26538960 . A G 214.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.81;MQ0=0;OQ=1731.52;QD=19.46;RankSumP=0.0403669;SB=-243.60;SecondBestBaseQ=32;set=Intersection GT 0/1 chr6 26539319 . A G 213.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=12.77;MQ=98.31;MQ0=0;OQ=5159.55;QD=16.92;RankSumP=0.493108;SB=-2062.81;SecondBestBaseQ=32;set=Intersection GT 0/1 chr6 26551832 . C A 123.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=494;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=23.95;MQ0=83;OQ=7317.99;QD=14.81;RankSumP=0.367033;SB=-2783.08;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.51C>A;refseq.codonCoord_2=17;refseq.end_1=26551837;refseq.end_2=26551832;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=294;refseq.name2_1=BTN3A3;refseq.name2_2=BTN3A3;refseq.name_1=NM_197974;refseq.name_2=NM_006994;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S17S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-35;refseq.start_1=26551660;refseq.start_2=26551832;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr6 26552350 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.272C>G;refseq.codingCoordStr_2=c.146C>G;refseq.codonCoord_1=91;refseq.codonCoord_2=49;refseq.end_1=26552350;refseq.end_2=26552350;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=444;refseq.name2_1=BTN3A3;refseq.name2_2=BTN3A3;refseq.name_1=NM_006994;refseq.name_2=NM_197974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A91G;refseq.proteinCoordStr_2=p.A49G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-162;refseq.spliceDist_2=-162;refseq.start_1=26552350;refseq.start_2=26552350;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr6 26553991 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.514T>G;refseq.codingCoordStr_2=c.388T>G;refseq.codonCoord_1=172;refseq.codonCoord_2=130;refseq.end_1=26553991;refseq.end_2=26553991;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=757;refseq.mrnaCoord_2=686;refseq.name2_1=BTN3A3;refseq.name2_2=BTN3A3;refseq.name_1=NM_006994;refseq.name_2=NM_197974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y172D;refseq.proteinCoordStr_2=p.Y130D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=26553991;refseq.start_2=26553991;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr6 26554188 . C T 185.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=7.81;MQ=96.99;MQ0=0;OQ=6186.35;QD=22.50;RankSumP=0.225691;SB=-2259.74;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.711C>T;refseq.codingCoordStr_2=c.585C>T;refseq.codonCoord_1=237;refseq.codonCoord_2=195;refseq.end_1=26554188;refseq.end_2=26554188;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=954;refseq.mrnaCoord_2=883;refseq.name2_1=BTN3A3;refseq.name2_2=BTN3A3;refseq.name_1=NM_006994;refseq.name_2=NM_197974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I237I;refseq.proteinCoordStr_2=p.I195I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=26554188;refseq.start_2=26554188;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr6 26560198 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=194;Dels=0.00;HRun=1;HaplotypeScore=7.38;MQ=76.95;MQ0=51;OQ=2505.34;QD=12.91;RankSumP=0.218871;SB=-710.39;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1335C>T;refseq.codingCoordStr_2=c.1188C>T;refseq.codonCoord_1=445;refseq.codonCoord_2=396;refseq.end_1=26560198;refseq.end_2=26560198;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1578;refseq.mrnaCoord_2=1486;refseq.name2_1=BTN3A3;refseq.name2_2=BTN3A3;refseq.name_1=NM_006994;refseq.name_2=NM_197974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L445L;refseq.proteinCoordStr_2=p.L396L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=317;refseq.spliceDist_2=317;refseq.start_1=26560198;refseq.start_2=26560198;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr6 26568037 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=20;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.430+2;refseq.codingCoordStr_2=c.430+2;refseq.end_1=26568037;refseq.end_2=26568037;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=26568037;refseq.start_2=26568037;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr6 26571553 . G T 129.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=319;Dels=0.00;HRun=1;HaplotypeScore=6.97;MQ=96.69;MQ0=0;OQ=5263.53;QD=16.50;RankSumP=0.391449;SB=-2076.44;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.533G>T;refseq.codingCoordStr_2=c.533G>T;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.end_1=26571553;refseq.end_2=26571553;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=745;refseq.mrnaCoord_2=745;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W178L;refseq.proteinCoordStr_2=p.W178L;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.start_1=26571553;refseq.start_2=26571553;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr6 26571554 . G T 206.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=96.67;MQ0=0;OQ=5014.30;QD=15.87;RankSumP=0.208671;SB=-1867.02;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.534G>T;refseq.codingCoordStr_2=c.534G>T;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.end_1=26571554;refseq.end_2=26571554;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=746;refseq.mrnaCoord_2=746;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W178C;refseq.proteinCoordStr_2=p.W178C;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=104;refseq.spliceDist_2=104;refseq.start_1=26571554;refseq.start_2=26571554;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr6 26571639 . G A 241.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=519;Dels=0.00;HRun=0;HaplotypeScore=15.78;MQ=96.59;MQ0=1;OQ=10588.94;QD=20.40;RankSumP=0.412296;SB=-3618.06;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.619G>A;refseq.codingCoordStr_2=c.619G>A;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=26571639;refseq.end_2=26571639;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=831;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V207M;refseq.proteinCoordStr_2=p.V207M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.start_1=26571639;refseq.start_2=26571639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr6 26576305 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=697;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=98.49;MQ0=0;OQ=15360.86;QD=22.04;RankSumP=0.0198718;SB=-6217.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1133G>A;refseq.codingCoordStr_2=c.*357G>A;refseq.codonCoord_1=378;refseq.end_1=26576305;refseq.end_2=26576305;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1345;refseq.mrnaCoord_2=1574;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.R378Q;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=CGG;refseq.spliceDist_1=151;refseq.spliceDist_2=380;refseq.start_1=26576305;refseq.start_2=26576305;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantCodon_1=CAG;set=Intersection GT 1/0 chr6 26576524 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=12.22;MQ=62.99;MQ0=136;OQ=4647.86;QD=13.43;RankSumP=2.52850e-05;SB=-1872.90;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1352G>C;refseq.codingCoordStr_2=c.*576G>C;refseq.codonCoord_1=451;refseq.end_1=26576524;refseq.end_2=26576524;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1564;refseq.mrnaCoord_2=1793;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.G451A;refseq.referenceAA_1=Gly;refseq.referenceCodon_1=GGC;refseq.spliceDist_1=370;refseq.spliceDist_2=599;refseq.start_1=26576524;refseq.start_2=26576524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCC;set=filterInsoap-gatk GT 0/1 chr6 26576639 . G A 179.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=557;Dels=0.00;HRun=0;HaplotypeScore=12.59;MQ=95.04;MQ0=2;OQ=9765.90;QD=17.53;RankSumP=0.0227956;SB=-4045.23;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1467G>A;refseq.codingCoordStr_2=c.*691G>A;refseq.codonCoord_1=489;refseq.end_1=26576639;refseq.end_2=26576639;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1679;refseq.mrnaCoord_2=1908;refseq.name2_1=BTN2A1;refseq.name2_2=BTN2A1;refseq.name_1=NM_007049;refseq.name_2=NM_078476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.R489R;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=AGG;refseq.spliceDist_1=485;refseq.spliceDist_2=714;refseq.start_1=26576639;refseq.start_2=26576639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantCodon_1=AGA;set=Intersection GT 1/0 chr6 26614929 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.749T>G;refseq.codonCoord=250;refseq.end=26614929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_001732;refseq.name2=BTN1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V250G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=26614929;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 26617361 . C T 171.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=6.70;MQ=98.96;MQ0=0;OQ=2140.87;QD=15.63;RankSumP=2.07731e-05;SB=-804.24;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1561C>T;refseq.codonCoord=521;refseq.end=26617361;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_001732;refseq.name2=BTN1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P521S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=654;refseq.start=26617361;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 0/1 chr6 26705312 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=97.07;MQ0=0;OQ=299.19;QD=6.96;RankSumP=0.622576;SB=-71.74;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.123A>G;refseq.codonCoord=41;refseq.end=26705312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_013375;refseq.name2=ABT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K41K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-119;refseq.start=26705312;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 26745703 . T C 0.22 PASS AC=1;AF=0.50;AN=2;DP=949;Dels=0.00;HRun=0;HaplotypeScore=15.02;MQ=13.04;MQ0=741;OQ=4503.10;QD=4.75;SB=-353.23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1058A>G;refseq.codonCoord=353;refseq.end=26745703;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1687;refseq.name=NM_024639;refseq.name2=ZNF322A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y353C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1233;refseq.start=26745703;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=gatk GT:AD:DP:GL:GQ 0/1:538,411:187:-449.31,-56.32,-321.57:99 chr6 26746482 rs9368444 G A 0.16 PASS AC=1;AF=0.50;AN=2;DB;DP=896;Dels=0.00;HRun=0;HaplotypeScore=25.20;MQ=8.56;MQ0=791;OQ=1335.35;QD=1.49;SB=-264.11;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.279C>T;refseq.codonCoord=93;refseq.end=26746482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_024639;refseq.name2=ZNF322A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H93H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=454;refseq.start=26746482;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=gatk GT:AD:DP:GL:GQ 0/1:603,293:96:-165.73,-28.92,-213.30:99 chr6 27222332 . C T 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.330111;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.225G>A;refseq.codonCoord=75;refseq.end=27222332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_080593;refseq.name2=HIST1H2BK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A75A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-166;refseq.start=27222332;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr6 27222404 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1317;Dels=0.00;HRun=0;HaplotypeScore=38.20;MQ=12.69;MQ0=1129;OQ=988.97;QD=0.75;RankSumP=0.330400;SB=-272.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.153C>T;refseq.codonCoord=51;refseq.end=27222404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_080593;refseq.name2=HIST1H2BK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P51P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=195;refseq.start=27222404;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/0 chr6 27222440 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1342;Dels=0.00;HRun=0;HaplotypeScore=36.36;MQ=17.75;MQ0=797;OQ=4884.54;QD=3.64;RankSumP=0.209492;SB=-697.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=27222440;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_080593;refseq.name2=HIST1H2BK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S39S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=159;refseq.start=27222440;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 1/0 chr6 27223106 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.438049;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.220A>G;refseq.codonCoord=74;refseq.end=27223106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_080596;refseq.name2=HIST1H2AH;refseq.positionType=CDS;refseq.proteinCoordStr=p.N74D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-220;refseq.start=27223106;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 0/1 chr6 27223108 . C G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0296334;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.222C>G;refseq.codonCoord=74;refseq.end=27223108;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_080596;refseq.name2=HIST1H2AH;refseq.positionType=CDS;refseq.proteinCoordStr=p.N74K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-218;refseq.start=27223108;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr6 27528027 . G C 235.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=98.57;MQ0=0;OQ=6897.68;QD=21.22;RankSumP=0.490061;SB=-2747.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1290C>G;refseq.codonCoord=430;refseq.end=27528027;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_007149;refseq.name2=ZNF184;refseq.positionType=CDS;refseq.proteinCoordStr=p.H430Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=992;refseq.start=27528027;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr6 27883653 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=13.80;MQ=94.52;MQ0=0;OQ=4702.91;QD=19.27;RankSumP=0.274224;SB=-507.76;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.11T>C;refseq.codonCoord=4;refseq.end=27883653;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=36;refseq.name=NM_003519;refseq.name2=HIST1H2BL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=36;refseq.start=27883653;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr6 27883981 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=82.50;MQ0=55;OQ=639.50;QD=1.23;RankSumP=0.0827688;SB=-100.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=27883981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=26;refseq.name=NM_003509;refseq.name2=HIST1H2AI;refseq.positionType=CDS;refseq.proteinCoordStr=p.G5G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=26;refseq.start=27883981;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 27941153 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=578;Dels=0.00;HRun=1;HaplotypeScore=36.70;MQ=98.67;MQ0=0;OQ=10342.55;QD=17.89;RankSumP=0.0153559;SB=-3164.80;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.42A>G;refseq.codonCoord=14;refseq.end=27941153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=68;refseq.name=NM_003511;refseq.name2=HIST1H2AL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K14K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=68;refseq.start=27941153;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 27943197 . G A 205.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.55;MQ0=0;OQ=1194.48;QD=20.59;RankSumP=0.608460;SB=-479.49;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.90C>T;refseq.codonCoord=30;refseq.end=27943197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_005322;refseq.name2=HIST1H1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G30G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=142;refseq.start=27943197;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr6 27943251 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=97.74;MQ0=0;OQ=304.85;QD=8.02;RankSumP=0.435792;SB=-59.73;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=27943251;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_005322;refseq.name2=HIST1H1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P12P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=88;refseq.start=27943251;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 27947725 . T C 272.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=13.96;MQ=98.59;MQ0=0;OQ=4501.89;QD=19.16;RankSumP=0.152587;SB=-1281.96;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.348A>G;refseq.codonCoord=116;refseq.end=27947725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_003533;refseq.name2=HIST1H3I;refseq.positionType=CDS;refseq.proteinCoordStr=p.K116K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-124;refseq.start=27947725;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 27966400 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=48.92;MQ=97.56;MQ0=0;OQ=1327.94;QD=5.19;RankSumP=0.403125;SB=-58.74;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.150T>C;refseq.codonCoord=50;refseq.end=27966400;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=150;refseq.name=NM_003535;refseq.name2=HIST1H3J;refseq.positionType=CDS;refseq.proteinCoordStr=p.R50R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=150;refseq.start=27966400;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 0/1 chr6 27987179 . C A 192.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.46;MQ0=1;OQ=4065.28;QD=19.54;RankSumP=0.401351;SB=-1549.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.898G>T;refseq.codonCoord=300;refseq.end=27987179;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=975;refseq.name=NM_033057;refseq.name2=OR2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A300S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-238;refseq.start=27987179;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr6 27987961 . A G 131.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=8.17;MQ=98.95;MQ0=0;OQ=4605.77;QD=20.47;RankSumP=0.354916;SB=-1702.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.116T>C;refseq.codonCoord=39;refseq.end=27987961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_033057;refseq.name2=OR2B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I39T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=193;refseq.start=27987961;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 28228072 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.706C>T;refseq.codonCoord=236;refseq.end=28228072;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_006298;refseq.name2=ZNF192;refseq.positionType=CDS;refseq.proteinCoordStr=p.L236F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=55;refseq.start=28228072;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr6 28228877 . G A 208.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=98.81;MQ0=0;OQ=6677.50;QD=22.04;RankSumP=0.155894;SB=-2401.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.840G>A;refseq.codonCoord=280;refseq.end=28228877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_006298;refseq.name2=ZNF192;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q280Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=65;refseq.start=28228877;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr6 28229246 . G A 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=153;Dels=0.00;HRun=2;HaplotypeScore=14.86;MQ=97.26;MQ0=0;OQ=69.78;QD=0.46;RankSumP=0.00000;SB=203.71;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1209G>A;refseq.codonCoord=403;refseq.end=28229246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1393;refseq.name=NM_006298;refseq.name2=ZNF192;refseq.positionType=CDS;refseq.proteinCoordStr=p.E403E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=434;refseq.start=28229246;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr6 28321224 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=261;Dels=0.00;HRun=2;HaplotypeScore=18.78;MQ=94.01;MQ0=0;OQ=173.14;QD=0.66;RankSumP=0.00000;SB=321.10;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1287G>A;refseq.codonCoord=429;refseq.end=28321224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_019110;refseq.name2=ZKSCAN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E429E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=509;refseq.start=28321224;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr6 28327640 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=8.80;MQ=98.72;MQ0=0;OQ=6141.50;QD=20.61;RankSumP=0.239291;SB=-769.80;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.98C>T;refseq.codonCoord=33;refseq.end=28327640;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_019110;refseq.name2=ZKSCAN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S33F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-326;refseq.start=28327640;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr6 28336321 . A G 166.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.91;MQ0=0;OQ=2196.38;QD=15.04;RankSumP=0.385809;SB=-1080.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1193A>G;refseq.codonCoord=398;refseq.end=28336321;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_001007531;refseq.name2=NKAPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E398G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-395;refseq.start=28336321;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr6 28376803 . A G 191.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=10.53;MQ=98.75;MQ0=0;OQ=5027.07;QD=22.05;RankSumP=0.0667955;SB=-1713.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1193A>G;refseq.codonCoord=398;refseq.end=28376803;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1563;refseq.name=NM_032507;refseq.name2=PGBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N398S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=324;refseq.start=28376803;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr6 28377642 . A G 327.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=480;Dels=0.00;HRun=0;HaplotypeScore=12.37;MQ=98.81;MQ0=0;OQ=9588.58;QD=19.98;RankSumP=0.407920;SB=-1834.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2032A>G;refseq.codonCoord=678;refseq.end=28377642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2402;refseq.name=NM_032507;refseq.name2=PGBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I678V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-664;refseq.start=28377642;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr6 28402529 . T C 368.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.87;MQ0=0;OQ=5332.16;QD=19.68;RankSumP=0.381166;SB=-2110.41;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.codingCoordStr_3=c.614A>G;refseq.codingCoordStr_4=c.614A>G;refseq.codingCoordStr_5=c.614A>G;refseq.codingCoordStr_6=c.614A>G;refseq.codonCoord_3=205;refseq.codonCoord_4=205;refseq.codonCoord_5=205;refseq.codonCoord_6=205;refseq.end_1=28402529;refseq.end_2=28402529;refseq.end_3=28402529;refseq.end_4=28402529;refseq.end_5=28402529;refseq.end_6=28402529;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=538;refseq.mrnaCoord_2=527;refseq.mrnaCoord_3=1518;refseq.mrnaCoord_4=1014;refseq.mrnaCoord_5=1003;refseq.mrnaCoord_6=1140;refseq.name2_1=ZNF323;refseq.name2_2=ZNF323;refseq.name2_3=ZNF323;refseq.name2_4=ZNF323;refseq.name2_5=ZNF323;refseq.name2_6=ZNF323;refseq.name_1=NR_024164;refseq.name_2=NR_024165;refseq.name_3=NM_001135215;refseq.name_4=NM_001135216;refseq.name_5=NM_030899;refseq.name_6=NM_145909;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.K205R;refseq.proteinCoordStr_4=p.K205R;refseq.proteinCoordStr_5=p.K205R;refseq.proteinCoordStr_6=p.K205R;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.referenceCodon_6=AAA;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.spliceDist_4=82;refseq.spliceDist_5=82;refseq.spliceDist_6=82;refseq.start_1=28402529;refseq.start_2=28402529;refseq.start_3=28402529;refseq.start_4=28402529;refseq.start_5=28402529;refseq.start_6=28402529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;refseq.variantCodon_5=AGA;refseq.variantCodon_6=AGA;set=Intersection GT 1/0 chr6 28405292 . T A 257.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.67;MQ0=0;OQ=2170.81;QD=16.20;RankSumP=0.208529;SB=-906.06;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.codingCoordStr_3=c.148A>T;refseq.codingCoordStr_4=c.148A>T;refseq.codingCoordStr_5=c.148A>T;refseq.codingCoordStr_6=c.148A>T;refseq.codonCoord_3=50;refseq.codonCoord_4=50;refseq.codonCoord_5=50;refseq.codonCoord_6=50;refseq.end_1=28411575;refseq.end_2=28411827;refseq.end_3=28405292;refseq.end_4=28405292;refseq.end_5=28405292;refseq.end_6=28405292;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=1052;refseq.mrnaCoord_4=548;refseq.mrnaCoord_5=537;refseq.mrnaCoord_6=674;refseq.name2_1=ZNF323;refseq.name2_2=ZNF323;refseq.name2_3=ZNF323;refseq.name2_4=ZNF323;refseq.name2_5=ZNF323;refseq.name2_6=ZNF323;refseq.name_1=NR_024164;refseq.name_2=NR_024165;refseq.name_3=NM_001135215;refseq.name_4=NM_001135216;refseq.name_5=NM_030899;refseq.name_6=NM_145909;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.T50S;refseq.proteinCoordStr_4=p.T50S;refseq.proteinCoordStr_5=p.T50S;refseq.proteinCoordStr_6=p.T50S;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.referenceCodon_6=ACT;refseq.spliceDist_3=179;refseq.spliceDist_4=-234;refseq.spliceDist_5=-234;refseq.spliceDist_6=179;refseq.start_1=28403300;refseq.start_2=28403300;refseq.start_3=28405292;refseq.start_4=28405292;refseq.start_5=28405292;refseq.start_6=28405292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;set=Intersection GT 1/0 chr6 28439106 . A G 198.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=98.45;MQ0=0;OQ=7008.53;QD=22.04;RankSumP=0.180772;SB=-2987.68;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.598A>G;refseq.codonCoord=200;refseq.end=28439106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_024493;refseq.name2=ZKSCAN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K200E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-36;refseq.start=28439106;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 28439107 . A C 320.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.45;MQ0=0;OQ=6884.67;QD=21.58;RankSumP=0.137524;SB=-2781.50;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.599A>C;refseq.codonCoord=200;refseq.end=28439107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_024493;refseq.name2=ZKSCAN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K200T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-35;refseq.start=28439107;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 28441693 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1269G>A;refseq.codonCoord=423;refseq.end=28441693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1485;refseq.name=NM_024493;refseq.name2=ZKSCAN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E423E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=512;refseq.start=28441693;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr6 28591461 . A C 292.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.94;MQ0=0;OQ=6807.81;QD=20.88;RankSumP=0.374337;SB=-2510.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.39T>G;refseq.codonCoord=13;refseq.end=28591461;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=89;refseq.name=NM_182701;refseq.name2=GPX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F13L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-49;refseq.start=28591461;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr6 28608078 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.361T>G;refseq.codingCoordStr_2=c.243T>G;refseq.codonCoord_1=121;refseq.codonCoord_2=81;refseq.end_1=28608078;refseq.end_2=28608078;refseq.frame_1=0;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=363;refseq.mrnaCoord_2=245;refseq.name2_1=GPX5;refseq.name2_2=GPX5;refseq.name_1=NM_001509;refseq.name_2=NM_003996;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y121D;refseq.proteinCoordStr_2=p.G81G;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=28608078;refseq.start_2=28608078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Gly;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr6 28608089 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.372A>C;refseq.codingCoordStr_2=c.254A>C;refseq.codonCoord_1=124;refseq.codonCoord_2=85;refseq.end_1=28608089;refseq.end_2=28608089;refseq.frame_1=2;refseq.frame_2=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=374;refseq.mrnaCoord_2=256;refseq.name2_1=GPX5;refseq.name2_2=GPX5;refseq.name_1=NM_001509;refseq.name_2=NM_003996;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P124P;refseq.proteinCoordStr_2=p.Q85P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=28608089;refseq.start_2=28608089;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCG;set=FilteredInAll GT 0/1 chr6 28650403 . G A 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=755;Dels=0.00;HRun=1;HaplotypeScore=10.83;MQ=98.76;MQ0=0;OQ=32192.74;QD=42.64;RankSumP=1.00000;SB=-12684.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2058C>T;refseq.codonCoord=686;refseq.end=28650403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_052923;refseq.name2=SCAND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D686D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=28650403;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 28650499 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=98.59;MQ0=0;OQ=20397.21;QD=43.40;RankSumP=1.00000;SB=-7188.64;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1962G>A;refseq.codonCoord=654;refseq.end=28650499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2580;refseq.name=NM_052923;refseq.name2=SCAND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K654K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-100;refseq.start=28650499;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr6 28651243 . C T 308.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.92;MQ0=0;OQ=2445.18;QD=16.75;RankSumP=0.449426;SB=-1172.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1218G>A;refseq.codonCoord=406;refseq.end=28651243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1836;refseq.name=NM_052923;refseq.name2=SCAND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L406L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=650;refseq.start=28651243;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr6 28999155 . T C 149.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=96.70;MQ0=0;OQ=1181.90;QD=13.90;RankSumP=0.206927;SB=-261.29;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=28999155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_006510;refseq.name2=TRIM27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-187;refseq.start=28999155;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 29071227 . T G 314.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.80;MQ0=0;OQ=4222.95;QD=22.11;RankSumP=0.428086;SB=-1765.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1531A>C;refseq.codonCoord=511;refseq.end=29071227;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2044;refseq.name=NM_001010877;refseq.name2=ZNF311;refseq.positionType=CDS;refseq.proteinCoordStr=p.K511Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-655;refseq.start=29071227;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr6 29075752 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.143A>C;refseq.codonCoord=48;refseq.end=29075752;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=656;refseq.name=NM_001010877;refseq.name2=ZNF311;refseq.positionType=CDS;refseq.proteinCoordStr=p.N48T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-41;refseq.start=29075752;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 29120046 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=1474.05;QD=21.36;RankSumP=0.344148;SB=-703.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.886G>A;refseq.codonCoord=296;refseq.end=29120046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_030903;refseq.name2=OR2W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D296N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-78;refseq.start=29120046;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr6 29120095 . G A 258.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.92;MQ0=0;OQ=2609.04;QD=21.39;RankSumP=0.296374;SB=-948.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.837C>T;refseq.codonCoord=279;refseq.end=29120095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_030903;refseq.name2=OR2W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T279T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-127;refseq.start=29120095;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr6 29188328 . A G 250.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=14.82;MQ=97.94;MQ0=0;OQ=8759.57;QD=21.21;RankSumP=0.338325;SB=-3563.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.682A>G;refseq.codonCoord=228;refseq.end=29188328;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_001005216;refseq.name2=OR2J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I228V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-255;refseq.start=29188328;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr6 29188429 . G A 260.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=11.14;MQ=76.75;MQ0=0;OQ=9251.82;QD=20.84;RankSumP=0.380753;SB=-3784.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.783G>A;refseq.codonCoord=261;refseq.end=29188429;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_001005216;refseq.name2=OR2J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M261I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-154;refseq.start=29188429;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr6 29249722 . A G 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1057;Dels=0.00;HRun=0;HaplotypeScore=12.70;MQ=91.31;MQ0=11;OQ=39796.58;QD=37.65;RankSumP=1.00000;SB=-14762.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.331A>G;refseq.codonCoord=111;refseq.end=29249722;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_030905;refseq.name2=OR2J2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T111A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=433;refseq.start=29249722;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 29249751 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1325;Dels=0.00;HRun=0;HaplotypeScore=49.42;MQ=85.94;MQ0=11;OQ=24243.86;QD=18.30;RankSumP=0.244342;SB=-8269.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.360A>G;refseq.codonCoord=120;refseq.end=29249751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_030905;refseq.name2=OR2J2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S120S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=462;refseq.start=29249751;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr6 29431238 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.73;MQ0=0;OQ=6325.91;QD=41.62;RankSumP=1.00000;SB=-2633.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.714C>T;refseq.codonCoord=238;refseq.end=29431238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_030876;refseq.name2=OR5V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F238F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-253;refseq.start=29431238;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr6 29431884 . A C 112.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=98.81;MQ0=0;OQ=2089.29;QD=20.69;RankSumP=0.209226;SB=-859.75;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.68T>G;refseq.codonCoord=23;refseq.end=29431884;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=150;refseq.name=NM_030876;refseq.name2=OR5V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23W;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=150;refseq.start=29431884;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr6 29450754 . G A 162.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.54;MQ0=0;OQ=2331.39;QD=13.32;RankSumP=0.00596363;SB=-1114.60;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.290C>T;refseq.codonCoord=97;refseq.end=29450754;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_030959;refseq.name2=OR12D3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T97I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=294;refseq.start=29450754;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/0 chr6 29472766 . C T 356.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=98.23;MQ0=0;OQ=8723.45;QD=40.57;RankSumP=1.00000;SB=-3511.45;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.311C>T;refseq.codonCoord=104;refseq.end=29472766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_013936;refseq.name2=OR12D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S104F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=372;refseq.start=29472766;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr6 29516507 . A G 150.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=18.32;MQ=98.69;MQ0=0;OQ=4090.04;QD=15.55;RankSumP=0.357161;SB=-1326.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.736A>G;refseq.codonCoord=246;refseq.end=29516507;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_013941;refseq.name2=OR10C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M246V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-204;refseq.start=29516507;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr6 29631655 . C G 126.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=339;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.82;MQ0=0;OQ=16807.64;QD=49.58;RankSumP=1.00000;SB=-4030.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.479G>C;refseq.codonCoord=160;refseq.end=29631655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_006398;refseq.name2=UBD;refseq.positionType=CDS;refseq.proteinCoordStr=p.C160S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-287;refseq.start=29631655;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr6 29631936 . A G 195.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1299.62;QD=15.11;RankSumP=0.204978;SB=-575.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.198T>C;refseq.codonCoord=66;refseq.end=29631936;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_006398;refseq.name2=UBD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y66Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=171;refseq.start=29631936;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr6 29663788 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=487;Dels=0.00;HRun=1;HaplotypeScore=15.81;MQ=97.30;MQ0=0;OQ=9985.11;QD=20.50;RankSumP=0.264271;SB=-3472.15;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.88C>T;refseq.codonCoord=30;refseq.end=29663788;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_007160;refseq.name2=OR2H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=127;refseq.start=29663788;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr6 29664215 . T G 22.18 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=199;Dels=0.00;HRun=2;HaplotypeScore=13.75;MQ=86.38;MQ0=5;QD=0.11;RankSumP=0.00000;SB=227.74;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.515T>G;refseq.codonCoord=172;refseq.end=29664215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_007160;refseq.name2=OR2H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V172G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-510;refseq.start=29664215;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 29684372 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=296.09;QD=10.21;RankSumP=0.397818;SB=-162.63;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1977T>C;refseq.codingCoordStr_2=c.1626T>C;refseq.codingCoordStr_3=c.1791T>C;refseq.codonCoord_1=659;refseq.codonCoord_2=542;refseq.codonCoord_3=597;refseq.end_1=29684372;refseq.end_2=29684372;refseq.end_3=29684372;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2313;refseq.mrnaCoord_2=2063;refseq.mrnaCoord_3=2127;refseq.name2_1=GABBR1;refseq.name2_2=GABBR1;refseq.name2_3=GABBR1;refseq.name_1=NM_001470;refseq.name_2=NM_021903;refseq.name_3=NM_021904;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F659F;refseq.proteinCoordStr_2=p.F542F;refseq.proteinCoordStr_3=p.F597F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=29684372;refseq.start_2=29684372;refseq.start_3=29684372;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 0/1 chr6 29689020 . A G 108.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.30;MQ0=0;OQ=7116.58;QD=19.50;RankSumP=0.294138;SB=-2810.25;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1545T>C;refseq.codingCoordStr_2=c.1194T>C;refseq.codingCoordStr_3=c.1359T>C;refseq.codonCoord_1=515;refseq.codonCoord_2=398;refseq.codonCoord_3=453;refseq.end_1=29689020;refseq.end_2=29689020;refseq.end_3=29689020;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1881;refseq.mrnaCoord_2=1631;refseq.mrnaCoord_3=1695;refseq.name2_1=GABBR1;refseq.name2_2=GABBR1;refseq.name2_3=GABBR1;refseq.name_1=NM_001470;refseq.name_2=NM_021903;refseq.name_3=NM_021904;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S515S;refseq.proteinCoordStr_2=p.S398S;refseq.proteinCoordStr_3=p.S453S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=29689020;refseq.start_2=29689020;refseq.start_3=29689020;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 0/1 chr6 29689089 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=98.70;MQ0=0;OQ=2918.49;QD=11.54;RankSumP=0.0163654;SB=-1207.46;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1476T>C;refseq.codingCoordStr_2=c.1125T>C;refseq.codingCoordStr_3=c.1290T>C;refseq.codonCoord_1=492;refseq.codonCoord_2=375;refseq.codonCoord_3=430;refseq.end_1=29689089;refseq.end_2=29689089;refseq.end_3=29689089;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1812;refseq.mrnaCoord_2=1562;refseq.mrnaCoord_3=1626;refseq.name2_1=GABBR1;refseq.name2_2=GABBR1;refseq.name2_3=GABBR1;refseq.name_1=NM_001470;refseq.name_2=NM_021903;refseq.name_3=NM_021904;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G492G;refseq.proteinCoordStr_2=p.G375G;refseq.proteinCoordStr_3=p.G430G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-91;refseq.spliceDist_2=-91;refseq.spliceDist_3=-91;refseq.start_1=29689089;refseq.start_2=29689089;refseq.start_3=29689089;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 0/1 chr6 29689092 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=10.68;MQ=98.70;MQ0=0;OQ=2932.81;QD=11.92;RankSumP=0.0332593;SB=-1230.49;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1473T>C;refseq.codingCoordStr_2=c.1122T>C;refseq.codingCoordStr_3=c.1287T>C;refseq.codonCoord_1=491;refseq.codonCoord_2=374;refseq.codonCoord_3=429;refseq.end_1=29689092;refseq.end_2=29689092;refseq.end_3=29689092;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1809;refseq.mrnaCoord_2=1559;refseq.mrnaCoord_3=1623;refseq.name2_1=GABBR1;refseq.name2_2=GABBR1;refseq.name2_3=GABBR1;refseq.name_1=NM_001470;refseq.name_2=NM_021903;refseq.name_3=NM_021904;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S491S;refseq.proteinCoordStr_2=p.S374S;refseq.proteinCoordStr_3=p.S429S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.spliceDist_3=-94;refseq.start_1=29689092;refseq.start_2=29689092;refseq.start_3=29689092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 0/1 chr6 29707165 . T G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=8.26635e-08;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.276A>C;refseq.codingCoordStr_2=c.276A>C;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=29707165;refseq.end_2=29707165;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=612;refseq.mrnaCoord_2=612;refseq.name2_1=GABBR1;refseq.name2_2=GABBR1;refseq.name_1=NM_001470;refseq.name_2=NM_021904;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T92T;refseq.proteinCoordStr_2=p.T92T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=29707165;refseq.start_2=29707165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr6 29732980 . A G 288.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=98.39;MQ0=0;OQ=3915.04;QD=32.36;RankSumP=1.00000;SB=-1193.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr6;refseq.chr_10=chr6;refseq.chr_11=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.chr_9=chr6;refseq.codingCoordStr_1=c.15A>G;refseq.codingCoordStr_10=c.15A>G;refseq.codingCoordStr_11=c.15A>G;refseq.codingCoordStr_2=c.15A>G;refseq.codingCoordStr_3=c.15A>G;refseq.codingCoordStr_4=c.15A>G;refseq.codingCoordStr_5=c.15A>G;refseq.codingCoordStr_6=c.15A>G;refseq.codingCoordStr_7=c.15A>G;refseq.codingCoordStr_8=c.15A>G;refseq.codingCoordStr_9=c.15A>G;refseq.codonCoord_1=5;refseq.codonCoord_10=5;refseq.codonCoord_11=5;refseq.codonCoord_2=5;refseq.codonCoord_3=5;refseq.codonCoord_4=5;refseq.codonCoord_5=5;refseq.codonCoord_6=5;refseq.codonCoord_7=5;refseq.codonCoord_8=5;refseq.codonCoord_9=5;refseq.end_1=29732980;refseq.end_10=29732980;refseq.end_11=29732980;refseq.end_2=29732980;refseq.end_3=29732980;refseq.end_4=29732980;refseq.end_5=29732980;refseq.end_6=29732980;refseq.end_7=29732980;refseq.end_8=29732980;refseq.end_9=29732980;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=244;refseq.mrnaCoord_10=244;refseq.mrnaCoord_11=244;refseq.mrnaCoord_2=244;refseq.mrnaCoord_3=244;refseq.mrnaCoord_4=244;refseq.mrnaCoord_5=244;refseq.mrnaCoord_6=244;refseq.mrnaCoord_7=244;refseq.mrnaCoord_8=244;refseq.mrnaCoord_9=244;refseq.name2_1=MOG;refseq.name2_10=MOG;refseq.name2_11=MOG;refseq.name2_2=MOG;refseq.name2_3=MOG;refseq.name2_4=MOG;refseq.name2_5=MOG;refseq.name2_6=MOG;refseq.name2_7=MOG;refseq.name2_8=MOG;refseq.name2_9=MOG;refseq.name_1=NM_001008228;refseq.name_10=NM_206813;refseq.name_11=NM_206814;refseq.name_2=NM_001008229;refseq.name_3=NM_001170417;refseq.name_4=NM_001170418;refseq.name_5=NM_002433;refseq.name_6=NM_206809;refseq.name_7=NM_206810;refseq.name_8=NM_206811;refseq.name_9=NM_206812;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.S5S;refseq.proteinCoordStr_10=p.S5S;refseq.proteinCoordStr_11=p.S5S;refseq.proteinCoordStr_2=p.S5S;refseq.proteinCoordStr_3=p.S5S;refseq.proteinCoordStr_4=p.S5S;refseq.proteinCoordStr_5=p.S5S;refseq.proteinCoordStr_6=p.S5S;refseq.proteinCoordStr_7=p.S5S;refseq.proteinCoordStr_8=p.S5S;refseq.proteinCoordStr_9=p.S5S;refseq.referenceAA_1=Ser;refseq.referenceAA_10=Ser;refseq.referenceAA_11=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceAA_9=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_10=TCA;refseq.referenceCodon_11=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.referenceCodon_6=TCA;refseq.referenceCodon_7=TCA;refseq.referenceCodon_8=TCA;refseq.referenceCodon_9=TCA;refseq.spliceDist_1=-74;refseq.spliceDist_10=-74;refseq.spliceDist_11=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.spliceDist_5=-74;refseq.spliceDist_6=-74;refseq.spliceDist_7=-74;refseq.spliceDist_8=-74;refseq.spliceDist_9=-74;refseq.start_1=29732980;refseq.start_10=29732980;refseq.start_11=29732980;refseq.start_2=29732980;refseq.start_3=29732980;refseq.start_4=29732980;refseq.start_5=29732980;refseq.start_6=29732980;refseq.start_7=29732980;refseq.start_8=29732980;refseq.start_9=29732980;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Ser;refseq.variantAA_10=Ser;refseq.variantAA_11=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantAA_9=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_10=TCG;refseq.variantCodon_11=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;refseq.variantCodon_6=TCG;refseq.variantCodon_7=TCG;refseq.variantCodon_8=TCG;refseq.variantCodon_9=TCG;set=Intersection GT 1/1 chr6 29741991 . A G 429.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.27;MQ0=0;OQ=5897.35;QD=36.63;RankSumP=1.00000;SB=-2230.88;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr6;refseq.chr_10=chr6;refseq.chr_11=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.chr_9=chr6;refseq.codingCoordStr_1=c.520A>G;refseq.codingCoordStr_10=c.*142A>G;refseq.codingCoordStr_11=c.*142A>G;refseq.codingCoordStr_2=c.520A>G;refseq.codingCoordStr_3=c.172A>G;refseq.codingCoordStr_4=c.172A>G;refseq.codingCoordStr_5=c.520A>G;refseq.codingCoordStr_6=c.520A>G;refseq.codingCoordStr_7=c.520A>G;refseq.codingCoordStr_8=c.520A>G;refseq.codingCoordStr_9=c.520A>G;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.codonCoord_3=58;refseq.codonCoord_4=58;refseq.codonCoord_5=174;refseq.codonCoord_6=174;refseq.codonCoord_7=174;refseq.codonCoord_8=174;refseq.codonCoord_9=174;refseq.end_1=29741991;refseq.end_10=29741991;refseq.end_11=29741991;refseq.end_2=29741991;refseq.end_3=29741991;refseq.end_4=29741991;refseq.end_5=29741991;refseq.end_6=29741991;refseq.end_7=29741991;refseq.end_8=29741991;refseq.end_9=29741991;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=749;refseq.mrnaCoord_10=887;refseq.mrnaCoord_11=887;refseq.mrnaCoord_2=749;refseq.mrnaCoord_3=401;refseq.mrnaCoord_4=401;refseq.mrnaCoord_5=749;refseq.mrnaCoord_6=749;refseq.mrnaCoord_7=749;refseq.mrnaCoord_8=749;refseq.mrnaCoord_9=749;refseq.name2_1=MOG;refseq.name2_10=MOG;refseq.name2_11=MOG;refseq.name2_2=MOG;refseq.name2_3=MOG;refseq.name2_4=MOG;refseq.name2_5=MOG;refseq.name2_6=MOG;refseq.name2_7=MOG;refseq.name2_8=MOG;refseq.name2_9=MOG;refseq.name_1=NM_001008228;refseq.name_10=NM_206813;refseq.name_11=NM_206814;refseq.name_2=NM_001008229;refseq.name_3=NM_001170417;refseq.name_4=NM_001170418;refseq.name_5=NM_002433;refseq.name_6=NM_206809;refseq.name_7=NM_206810;refseq.name_8=NM_206811;refseq.name_9=NM_206812;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=utr3;refseq.positionType_11=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.I174V;refseq.proteinCoordStr_2=p.I174V;refseq.proteinCoordStr_3=p.I58V;refseq.proteinCoordStr_4=p.I58V;refseq.proteinCoordStr_5=p.I174V;refseq.proteinCoordStr_6=p.I174V;refseq.proteinCoordStr_7=p.I174V;refseq.proteinCoordStr_8=p.I174V;refseq.proteinCoordStr_9=p.I174V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceAA_8=Ile;refseq.referenceAA_9=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.referenceCodon_6=ATC;refseq.referenceCodon_7=ATC;refseq.referenceCodon_8=ATC;refseq.referenceCodon_9=ATC;refseq.spliceDist_1=-31;refseq.spliceDist_10=-31;refseq.spliceDist_11=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.spliceDist_6=-31;refseq.spliceDist_7=-31;refseq.spliceDist_8=-31;refseq.spliceDist_9=-31;refseq.start_1=29741991;refseq.start_10=29741991;refseq.start_11=29741991;refseq.start_2=29741991;refseq.start_3=29741991;refseq.start_4=29741991;refseq.start_5=29741991;refseq.start_6=29741991;refseq.start_7=29741991;refseq.start_8=29741991;refseq.start_9=29741991;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantAA_9=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;refseq.variantCodon_8=GTC;refseq.variantCodon_9=GTC;set=Intersection GT 1/1 chr6 29799282 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=99.00;MQ0=0;OQ=492.37;QD=10.05;RankSumP=0.203197;SB=-242.49;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.63G>A;refseq.codingCoordStr_2=c.63G>A;refseq.codingCoordStr_3=c.63G>A;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=29799282;refseq.end_2=29799282;refseq.end_3=29799282;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=187;refseq.mrnaCoord_2=187;refseq.mrnaCoord_3=187;refseq.name2_1=HLA-F;refseq.name2_2=HLA-F;refseq.name2_3=HLA-F;refseq.name_1=NM_001098478;refseq.name_2=NM_001098479;refseq.name_3=NM_018950;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A21A;refseq.proteinCoordStr_2=p.A21A;refseq.proteinCoordStr_3=p.A21A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=29799282;refseq.start_2=29799282;refseq.start_3=29799282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr6 29800990 . C T 328.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=3.68;MQ=86.48;MQ0=6;OQ=6519.19;QD=37.68;RankSumP=1.00000;SB=-3205.15;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.814C>T;refseq.codingCoordStr_3=c.814C>T;refseq.codonCoord_2=272;refseq.codonCoord_3=272;refseq.end_1=29801192;refseq.end_2=29800990;refseq.end_3=29800990;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=938;refseq.mrnaCoord_3=938;refseq.name2_1=HLA-F;refseq.name2_2=HLA-F;refseq.name2_3=HLA-F;refseq.name_1=NM_001098478;refseq.name_2=NM_001098479;refseq.name_3=NM_018950;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P272S;refseq.proteinCoordStr_3=p.P272S;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.start_1=29800215;refseq.start_2=29800990;refseq.start_3=29800990;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr6 29802659 . A C 237.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=17.82;MQ=97.05;MQ0=0;OQ=7516.28;QD=19.78;RankSumP=0.0929919;SB=-3133.74;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.1057A>C;refseq.codonCoord_3=353;refseq.end_1=29802659;refseq.end_2=29802659;refseq.end_3=29802659;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1603;refseq.mrnaCoord_2=387;refseq.mrnaCoord_3=1181;refseq.name2_1=LOC285830;refseq.name2_2=LOC285830;refseq.name2_3=HLA-F;refseq.name_1=NR_026972;refseq.name_2=NR_026973;refseq.name_3=NM_001098479;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.N353H;refseq.referenceAA_3=Asn;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=237;refseq.spliceDist_2=237;refseq.spliceDist_3=21;refseq.start_1=29802659;refseq.start_2=29802659;refseq.start_3=29802659;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=His;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr6 29802660 . A T 266.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=15.83;MQ=97.03;MQ0=0;OQ=7653.57;QD=20.19;RankSumP=0.193293;SB=-3268.60;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.1058A>T;refseq.codonCoord_3=353;refseq.end_1=29802660;refseq.end_2=29802660;refseq.end_3=29802660;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1602;refseq.mrnaCoord_2=386;refseq.mrnaCoord_3=1182;refseq.name2_1=LOC285830;refseq.name2_2=LOC285830;refseq.name2_3=HLA-F;refseq.name_1=NR_026972;refseq.name_2=NR_026973;refseq.name_3=NM_001098479;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.N353I;refseq.referenceAA_3=Asn;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=236;refseq.spliceDist_2=236;refseq.spliceDist_3=22;refseq.start_1=29802660;refseq.start_2=29802660;refseq.start_3=29802660;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ile;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr6 29802797 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.1195T>G;refseq.codonCoord_3=399;refseq.end_1=29802797;refseq.end_2=29802797;refseq.end_3=29802797;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1465;refseq.mrnaCoord_2=249;refseq.mrnaCoord_3=1319;refseq.name2_1=LOC285830;refseq.name2_2=LOC285830;refseq.name2_3=HLA-F;refseq.name_1=NR_026972;refseq.name_2=NR_026973;refseq.name_3=NM_001098479;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.W399G;refseq.referenceAA_3=Trp;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.spliceDist_3=159;refseq.start_1=29802797;refseq.start_2=29802797;refseq.start_3=29802797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr6 29903615 . G A 175.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=97.52;MQ0=0;OQ=6881.68;QD=37.00;RankSumP=1.00000;SB=-2965.02;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.15G>A;refseq.codonCoord=5;refseq.end=29903615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.A5A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-59;refseq.start=29903615;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 29903636 . G A 180.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=97.46;MQ0=0;OQ=6035.69;QD=38.20;RankSumP=1.00000;SB=-2370.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.36G>A;refseq.codonCoord=12;refseq.end=29903636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=214;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.L12L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-38;refseq.start=29903636;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 29903972 . G A 229.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=97.92;MQ0=0;OQ=2769.76;QD=35.06;RankSumP=1.00000;SB=-516.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=29903972;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-101;refseq.start=29903972;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr6 29904306 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.55;MQ0=0;OQ=427.52;QD=20.36;RankSumP=0.659975;SB=-103.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=29904306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.H117H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=29904306;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 29904348 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.29;MQ0=0;OQ=261.67;QD=6.38;RankSumP=0.560232;SB=-68.92;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.393A>T;refseq.codonCoord=131;refseq.end=29904348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.G131G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=50;refseq.start=29904348;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 29905618 . C T 199.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=13.67;MQ=98.68;MQ0=0;OQ=6351.98;QD=17.03;RankSumP=0.0648288;SB=-2559.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.942C>T;refseq.codonCoord=314;refseq.end=29905618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.G314G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=47;refseq.start=29905618;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 29905675 . A G 164.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=7.70;MQ=98.46;MQ0=0;OQ=12541.52;QD=39.56;RankSumP=1.00000;SB=-4941.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.999A>G;refseq.codonCoord=333;refseq.end=29905675;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1177;refseq.name=NM_002127;refseq.name2=HLA-G;refseq.positionType=CDS;refseq.proteinCoordStr=p.R333R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-14;refseq.start=29905675;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr6 30018537 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=86.01;MQ0=2;OQ=628.37;QD=6.83;RankSumP=0.350499;SB=-215.89;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.98T>A;refseq.codonCoord=33;refseq.end=30018537;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F33Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=25;refseq.start=30018537;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr6 30018541 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=5.86;MQ=85.39;MQ0=2;OQ=773.70;QD=8.60;RankSumP=0.255822;SB=-280.84;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.102A>C;refseq.codonCoord=34;refseq.end=30018541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=124;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T34T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=29;refseq.start=30018541;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 30018642 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=10.85;MQ=95.20;MQ0=0;OQ=2286.81;QD=15.88;RankSumP=0.124485;SB=-949.99;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.203G>A;refseq.codonCoord=68;refseq.end=30018642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R68K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=130;refseq.start=30018642;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 30018710 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=93.84;MQ0=0;OQ=1203.31;QD=13.08;RankSumP=0.635144;SB=-415.31;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.271G>A;refseq.codonCoord=91;refseq.end=30018710;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V91M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-73;refseq.start=30018710;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr6 30018721 . G C 133.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=92.58;MQ0=0;OQ=1219.09;QD=16.04;RankSumP=0.111471;SB=-480.73;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.282G>C;refseq.codonCoord=94;refseq.end=30018721;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q94H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-62;refseq.start=30018721;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 30018738 rs1071742 T C 10.93 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=90.50;MQ0=0;OQ=737.08;QD=9.96;SB=-377.85;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.299T>C;refseq.codonCoord=100;refseq.end=30018738;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V100A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-45;refseq.start=30018738;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:45,29:71:-98.38,-21.39,-184.76:99 chr6 30018740 rs1136688 G A 14.55 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=90.50;MQ0=0;OQ=765.03;QD=10.78;SB=-378.02;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.301G>A;refseq.codonCoord=101;refseq.end=30018740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D101N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-43;refseq.start=30018740;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=gatk GT:AD:DP:GL:GQ 0/1:44,27:68:-100.26,-20.48,-181.13:99 chr6 30018780 . C A 193.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=87.37;MQ0=1;OQ=2570.27;QD=32.54;RankSumP=1.00000;SB=-990.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.341C>A;refseq.codonCoord=114;refseq.end=30018780;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A114D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=30018780;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr6 30019065 . T C 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=5.12;MQ=85.17;MQ0=0;OQ=832.14;QD=24.47;RankSumP=1.00000;SB=-170.84;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.385T>C;refseq.codonCoord=129;refseq.end=30019065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S129P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=42;refseq.start=30019065;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr6 30019169 . G A 32.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=9.36;MQ=69.68;MQ0=10;OQ=2594.06;QD=28.82;RankSumP=1.00000;SB=-690.41;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.489G>A;refseq.codonCoord=163;refseq.end=30019169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A163A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-131;refseq.start=30019169;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/1 chr6 30019201 . C T 2.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=18.25;MQ=69.29;MQ0=12;OQ=692.84;QD=9.62;RankSumP=0.0659341;SB=-243.21;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.521C>T;refseq.codonCoord=174;refseq.end=30019201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A174V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-99;refseq.start=30019201;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 0/1 chr6 30019207 . A C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=18.87;MQ=71.27;MQ0=8;OQ=789.47;QD=12.15;RankSumP=0.681041;SB=-300.41;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.527A>C;refseq.codonCoord=176;refseq.end=30019207;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E176A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-93;refseq.start=30019207;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 30019218 rs9260155 T C 209.57 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=5.43;MQ=71.38;MQ0=8;OQ=1075.73;QD=18.55;SB=-384.65;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.538T>C;refseq.codonCoord=180;refseq.end=30019218;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L180L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-82;refseq.start=30019218;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 1/1:0,57:28:-111.17,-8.43,-0.01:84.25 chr6 30019219 . T A 69.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.43;MQ=71.91;MQ0=9;OQ=797.73;QD=12.46;RankSumP=1.00000;SB=-201.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.539T>A;refseq.codonCoord=180;refseq.end=30019219;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L180*;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-81;refseq.start=30019219;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=filterInsoap-gatk GT 1/1 chr6 30019235 . T G 1257.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=19.57;MQ=73.84;MQ0=11;QD=14.29;RankSumP=1.00000;SB=-251.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.555T>G;refseq.codonCoord=185;refseq.end=30019235;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D185E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-65;refseq.start=30019235;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/1 chr6 30019239 rs3129018 A C 550.03 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=7.38;MQ=73.03;MQ0=12;QD=5.67;SB=-255.90;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.559A>C;refseq.codonCoord=187;refseq.end=30019239;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-61;refseq.start=30019239;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:43,52:46:-72.14,-13.85,-96.20:99 chr6 30019240 rs3129017 C G 893.76 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=25.91;MQ=73.34;MQ0=12;QD=9.12;SB=-467.99;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.560C>G;refseq.codonCoord=187;refseq.end=30019240;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-60;refseq.start=30019240;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:43,53:50:-107.73,-15.07,-117.95:99 chr6 30019250 rs3129016 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=54.35;MQ=74.05;MQ0=12;OQ=67.63;QD=0.55;SB=-16.58;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.570G>C;refseq.codonCoord=190;refseq.end=30019250;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E190D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-50;refseq.start=30019250;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:94,27:69:-30.83,-20.78,-303.19:99 chr6 30019251 . T G 25.69 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=8.91;MQ=74.23;MQ0=12;QD=0.21;RankSumP=0.739528;SB=-11.92;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.571T>G;refseq.codonCoord=191;refseq.end=30019251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W191G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-49;refseq.start=30019251;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 30019298 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=17.16;MQ=80.85;MQ0=4;OQ=1566.81;QD=8.52;RankSumP=0.372750;SB=-361.00;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.618G>T;refseq.codonCoord=206;refseq.end=30019298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T206T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=30019298;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr6 30020009 rs59581768 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=31.08;MQ=50.41;MQ0=285;OQ=1093.40;QD=2.58;SB=-3.98;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.751G>C;refseq.codonCoord=251;refseq.end=30020009;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D251H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=132;refseq.start=30020009;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:386,31:132:-155.14,-42.52,-476.33:99 chr6 30021021 . C T 200.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=4.90;MQ=93.94;MQ0=0;OQ=10071.60;QD=42.86;RankSumP=1.00000;SB=-4502.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1077C>T;refseq.codonCoord=359;refseq.end=30021021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_002116;refseq.name2=HLA-A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S359S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-17;refseq.start=30021021;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr6 30179309 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=3.19;MQ=98.13;MQ0=0;OQ=896.01;QD=12.11;RankSumP=0.343167;SB=-136.08;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1261G>A;refseq.codonCoord=421;refseq.end=30179309;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1371;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.E421K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=237;refseq.start=30179309;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 30183822 . T C 366.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=3332.05;QD=42.18;RankSumP=1.00000;SB=-816.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.870A>G;refseq.codonCoord=290;refseq.end=30183822;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=980;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L290L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-14;refseq.start=30183822;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr6 30183843 . A G 174.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.79;MQ0=0;OQ=1879.25;QD=14.57;RankSumP=0.342959;SB=-525.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.849T>C;refseq.codonCoord=283;refseq.end=30183843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.H283H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-35;refseq.start=30183843;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 30186254 . C T 117.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=677;Dels=0.00;HRun=0;HaplotypeScore=10.98;MQ=98.73;MQ0=0;OQ=12468.04;QD=18.42;RankSumP=0.130920;SB=-4635.05;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.694G>A;refseq.codonCoord=232;refseq.end=30186254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.V232I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-51;refseq.start=30186254;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr6 30186309 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=30.53;MQ=98.68;MQ0=0;OQ=10400.79;QD=17.25;RankSumP=0.00865889;SB=-4367.62;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.639G>A;refseq.codonCoord=213;refseq.end=30186309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.A213A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-106;refseq.start=30186309;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 0/1 chr6 30186327 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.621T>G;refseq.codonCoord=207;refseq.end=30186327;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.G207G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=108;refseq.start=30186327;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 30188253 . G A 210.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=7.79;MQ=98.81;MQ0=0;OQ=5518.61;QD=19.92;RankSumP=0.283189;SB=-1371.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=30188253;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.H103H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-109;refseq.start=30188253;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 30188475 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=10.62;MQ=98.63;MQ0=0;OQ=9369.30;QD=21.29;RankSumP=0.281265;SB=-3986.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.87C>T;refseq.codonCoord=29;refseq.end=30188475;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_007028;refseq.name2=TRIM31;refseq.positionType=CDS;refseq.proteinCoordStr=p.I29I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=170;refseq.start=30188475;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr6 30230133 . T C 458.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.88;MQ0=0;OQ=5071.85;QD=39.94;RankSumP=1.00000;SB=-2279.24;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1038A>G;refseq.codingCoordStr_2=c.1038A>G;refseq.codonCoord_1=346;refseq.codonCoord_2=346;refseq.end_1=30230133;refseq.end_2=30230133;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=1114;refseq.name2_1=TRIM10;refseq.name2_2=TRIM10;refseq.name_1=NM_006778;refseq.name_2=NM_052828;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q346Q;refseq.proteinCoordStr_2=p.Q346Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=110;refseq.spliceDist_2=-67;refseq.start_1=30230133;refseq.start_2=30230133;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr6 30236238 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.377A>G;refseq.codingCoordStr_2=c.377A>G;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=30236238;refseq.end_2=30236238;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=453;refseq.mrnaCoord_2=453;refseq.name2_1=TRIM10;refseq.name2_2=TRIM10;refseq.name_1=NM_006778;refseq.name_2=NM_052828;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E126G;refseq.proteinCoordStr_2=p.E126G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=30236238;refseq.start_2=30236238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr6 30239525 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=5.82;MQ=98.26;MQ0=0;OQ=1558.59;QD=12.88;RankSumP=0.206180;SB=-363.92;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.85A>G;refseq.codonCoord=29;refseq.end=30239525;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_033229;refseq.name2=TRIM15;refseq.positionType=CDS;refseq.proteinCoordStr=p.I29V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-297;refseq.start=30239525;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 30239564 . G A 153.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.34;MQ0=0;OQ=2239.53;QD=14.45;RankSumP=0.103625;SB=-1086.07;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.124G>A;refseq.codonCoord=42;refseq.end=30239564;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=603;refseq.name=NM_033229;refseq.name2=TRIM15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A42T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-258;refseq.start=30239564;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr6 30244281 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=404.37;QD=12.25;RankSumP=0.707265;SB=-141.71;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.703C>G;refseq.codonCoord=235;refseq.end=30244281;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_033229;refseq.name2=TRIM15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L235V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=30244281;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr6 30262178 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=539;Dels=0.00;HRun=2;HaplotypeScore=12.29;MQ=98.82;MQ0=0;OQ=9905.21;QD=18.38;RankSumP=1.22097e-08;SB=-3869.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1074A>G;refseq.codonCoord=358;refseq.end=30262178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1521;refseq.name=NM_003449;refseq.name2=TRIM26;refseq.positionType=CDS;refseq.proteinCoordStr=p.L358L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=137;refseq.start=30262178;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/0 chr6 30262240 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1012A>C;refseq.codonCoord=338;refseq.end=30262240;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1459;refseq.name=NM_003449;refseq.name2=TRIM26;refseq.positionType=CDS;refseq.proteinCoordStr=p.T338P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=75;refseq.start=30262240;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 30274245 . C T 313.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=98.79;MQ0=0;OQ=2568.51;QD=16.57;RankSumP=0.134768;SB=-1288.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.474G>A;refseq.codonCoord=158;refseq.end=30274245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_003449;refseq.name2=TRIM26;refseq.positionType=CDS;refseq.proteinCoordStr=p.R158R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=36;refseq.start=30274245;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr6 30336358 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=93.55;MQ0=2;OQ=740.57;QD=12.77;RankSumP=0.712608;SB=-124.75;SecondBestBaseQ=24;refseq.chr=chr6;refseq.end=30336358;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=500;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=30336358;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 30336992 . A G 176.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=4.28;MQ=91.49;MQ0=3;OQ=8032.96;QD=15.84;RankSumP=0.292581;SB=-3071.54;SecondBestBaseQ=31;refseq.chr=chr6;refseq.end=30336992;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=538;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=33;refseq.start=30336992;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 30337436 . C T 258.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=98.10;MQ0=0;OQ=7147.86;QD=20.54;RankSumP=0.156959;SB=-1824.50;SecondBestBaseQ=31;refseq.chr=chr6;refseq.end=30337436;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=875;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=-24;refseq.start=30337436;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 30337442 . G A 350.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.12;MQ0=0;OQ=6781.63;QD=20.55;RankSumP=0.453646;SB=-1627.03;SecondBestBaseQ=31;refseq.chr=chr6;refseq.end=30337442;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=881;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=-18;refseq.start=30337442;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 30338064 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=609;Dels=0.00;HRun=1;HaplotypeScore=7.58;MQ=98.52;MQ0=0;OQ=11122.62;QD=18.26;RankSumP=0.184590;SB=-4146.89;SecondBestBaseQ=33;refseq.chr=chr6;refseq.end=30338064;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=912;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=14;refseq.start=30338064;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 30339050 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1033;Dels=0.00;HRun=0;HaplotypeScore=10.70;MQ=98.57;MQ0=0;OQ=20360.44;QD=19.71;RankSumP=0.306716;SB=-6915.59;SecondBestBaseQ=33;refseq.chr=chr6;refseq.end=30339050;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=965;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=19;refseq.start=30339050;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr6 30339087 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=915;Dels=0.00;HRun=1;HaplotypeScore=17.35;MQ=98.78;MQ0=0;OQ=17246.85;QD=18.85;RankSumP=0.0862713;SB=-6896.22;SecondBestBaseQ=33;refseq.chr=chr6;refseq.end=30339087;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1002;refseq.name=NR_027822;refseq.name2=HLA-L;refseq.positionType=non_coding_exon;refseq.spliceDist=56;refseq.start=30339087;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 30405508 . T C 346.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=98.85;MQ0=0;OQ=4240.29;QD=19.63;RankSumP=0.0857677;SB=-1422.87;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.435T>C;refseq.codingCoordStr_2=c.435T>C;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=30405508;refseq.end_2=30405508;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=1061;refseq.name2_1=TRIM39;refseq.name2_2=TRIM39;refseq.name_1=NM_021253;refseq.name_2=NM_172016;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D145D;refseq.proteinCoordStr_2=p.D145D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=30405508;refseq.start_2=30405508;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr6 30417487 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=211;Dels=0.00;HRun=3;HaplotypeScore=3.21;MQ=98.73;MQ0=0;OQ=3115.02;QD=14.76;RankSumP=0.00231697;SB=-960.02;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1029T>C;refseq.codingCoordStr_2=c.939T>C;refseq.codonCoord_1=343;refseq.codonCoord_2=313;refseq.end_1=30417487;refseq.end_2=30417487;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1341;refseq.mrnaCoord_2=1565;refseq.name2_1=TRIM39;refseq.name2_2=TRIM39;refseq.name_1=NM_021253;refseq.name_2=NM_172016;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P343P;refseq.proteinCoordStr_2=p.P313P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=30417487;refseq.start_2=30417487;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 1/0 chr6 30417742 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1284C>A;refseq.codingCoordStr_2=c.1194C>A;refseq.codonCoord_1=428;refseq.codonCoord_2=398;refseq.end_1=30417742;refseq.end_2=30417742;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1596;refseq.mrnaCoord_2=1820;refseq.name2_1=TRIM39;refseq.name2_2=TRIM39;refseq.name_1=NM_021253;refseq.name_2=NM_172016;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y428*;refseq.proteinCoordStr_2=p.Y398*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=275;refseq.spliceDist_2=275;refseq.start_1=30417742;refseq.start_2=30417742;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr6 30422545 . T G 234.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=98.91;MQ0=0;OQ=3193.74;QD=14.45;RankSumP=0.0606443;SB=-917.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.444T>G;refseq.codonCoord=148;refseq.end=30422545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_024839;refseq.name2=RPP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T148T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-67;refseq.start=30422545;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr6 30422546 . C A 206.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=3.84;MQ=98.90;MQ0=0;OQ=3219.84;QD=15.05;RankSumP=0.0955352;SB=-959.64;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.445C>A;refseq.codonCoord=149;refseq.end=30422546;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_024839;refseq.name2=RPP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q149K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-66;refseq.start=30422546;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 30565711 . T C 204.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.42;MQ0=0;OQ=3327.53;QD=37.81;RankSumP=1.00000;SB=-1430.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.294T>C;refseq.codonCoord=98;refseq.end=30565711;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_005516;refseq.name2=HLA-E;refseq.positionType=CDS;refseq.proteinCoordStr=p.N98N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=30565711;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr6 30566043 . G A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.72;MQ0=0;OQ=1081.45;QD=28.46;RankSumP=1.00000;SB=-119.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.382G>A;refseq.codonCoord=128;refseq.end=30566043;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_005516;refseq.name2=HLA-E;refseq.positionType=CDS;refseq.proteinCoordStr=p.G128R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=48;refseq.start=30566043;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr6 30623022 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=96;Dels=0.00;HRun=3;HaplotypeScore=7.10;MQ=98.77;MQ0=0;OQ=1536.00;QD=16.00;RankSumP=0.405527;SB=-763.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1287A>G;refseq.codonCoord=429;refseq.end=30623022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2678;refseq.name=NM_005275;refseq.name2=GNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A429A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=30623022;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr6 30628227 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1095T>G;refseq.codonCoord=365;refseq.end=30628227;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2486;refseq.name=NM_005275;refseq.name2=GNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C365W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=30628227;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr6 30629116 . G A 457.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=98.70;MQ0=0;OQ=4670.91;QD=40.62;RankSumP=1.00000;SB=-1843.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.798C>T;refseq.codonCoord=266;refseq.end=30629116;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2189;refseq.name=NM_005275;refseq.name2=GNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D266D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-11;refseq.start=30629116;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 30638224 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=2;HaplotypeScore=14.11;MQ=98.83;MQ0=0;OQ=6136.27;QD=40.64;RankSumP=1.00000;SB=-2532.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.477T>C;refseq.codingCoordStr_2=c.540T>C;refseq.codonCoord_1=159;refseq.codonCoord_2=180;refseq.end_1=30638224;refseq.end_2=30638224;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1176;refseq.name2_1=PRR3;refseq.name2_2=PRR3;refseq.name_1=NM_001077497;refseq.name_2=NM_025263;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H159H;refseq.proteinCoordStr_2=p.H180H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=30638224;refseq.start_2=30638224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr6 30666458 . G A 4 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=2;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*1G>A;refseq.codingCoordStr_2=c.*1G>A;refseq.end_1=30666458;refseq.end_2=30666458;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2634;refseq.mrnaCoord_2=2520;refseq.name2_1=ABCF1;refseq.name2_2=ABCF1;refseq.name_1=NM_001025091;refseq.name_2=NM_001090;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.start_1=30666458;refseq.start_2=30666458;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/1 chr6 30666459 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*2C>G;refseq.codingCoordStr_2=c.*2C>G;refseq.end_1=30666459;refseq.end_2=30666459;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2635;refseq.mrnaCoord_2=2521;refseq.name2_1=ABCF1;refseq.name2_2=ABCF1;refseq.name_1=NM_001025091;refseq.name_2=NM_001090;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=169;refseq.spliceDist_2=169;refseq.start_1=30666459;refseq.start_2=30666459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/1 chr6 30730582 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2697C>A;refseq.codingCoordStr_2=c.2877C>A;refseq.codonCoord_1=899;refseq.codonCoord_2=959;refseq.end_1=30730582;refseq.end_2=30730582;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2768;refseq.mrnaCoord_2=3089;refseq.name2_1=DHX16;refseq.name2_2=DHX16;refseq.name_1=NM_001164239;refseq.name_2=NM_003587;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y899*;refseq.proteinCoordStr_2=p.Y959*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=30730582;refseq.start_2=30730582;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr6 30731318 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2354C>G;refseq.codingCoordStr_2=c.2534C>G;refseq.codonCoord_1=785;refseq.codonCoord_2=845;refseq.end_1=30731318;refseq.end_2=30731318;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2425;refseq.mrnaCoord_2=2746;refseq.name2_1=DHX16;refseq.name2_2=DHX16;refseq.name_1=NM_001164239;refseq.name_2=NM_003587;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A785G;refseq.proteinCoordStr_2=p.A845G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=30731318;refseq.start_2=30731318;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr6 30738722 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1193C>G;refseq.codingCoordStr_2=c.1373C>G;refseq.codonCoord_1=398;refseq.codonCoord_2=458;refseq.end_1=30738722;refseq.end_2=30738722;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1264;refseq.mrnaCoord_2=1585;refseq.name2_1=DHX16;refseq.name2_2=DHX16;refseq.name_1=NM_001164239;refseq.name_2=NM_003587;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A398G;refseq.proteinCoordStr_2=p.A458G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=30738722;refseq.start_2=30738722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr6 30760760 . C T 270.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=8.17;MQ=98.54;MQ0=0;OQ=9066.21;QD=20.75;RankSumP=0.337451;SB=-3657.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1015G>A;refseq.codingCoordStr_2=c.1015G>A;refseq.codonCoord_1=339;refseq.codonCoord_2=339;refseq.end_1=30760760;refseq.end_2=30760760;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1246;refseq.mrnaCoord_2=2892;refseq.name2_1=KIAA1949;refseq.name2_2=KIAA1949;refseq.name_1=NM_001134870;refseq.name_2=NM_133471;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G339R;refseq.proteinCoordStr_2=p.G339R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-597;refseq.spliceDist_2=-597;refseq.start_1=30760760;refseq.start_2=30760760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr6 30779629 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=25.25;MQ=98.45;MQ0=0;OQ=4895.56;QD=16.88;RankSumP=0.163801;SB=-1750.36;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5310T>C;refseq.codonCoord=1770;refseq.end=30779629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5750;refseq.name=NM_014641;refseq.name2=MDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1770I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-253;refseq.start=30779629;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 30819784 . C G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.90;MQ=98.83;MQ0=0;OQ=1557.70;QD=44.51;RankSumP=1.00000;SB=-414.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.379G>C;refseq.codonCoord=127;refseq.end=30819784;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_003897;refseq.name2=IER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A127P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=169;refseq.start=30819784;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr6 30965051 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=98.48;MQ0=0;OQ=505.42;QD=11.75;RankSumP=0.537182;SB=-119.31;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.282G>C;refseq.codingCoordStr_2=c.282G>C;refseq.codingCoordStr_3=c.282G>C;refseq.codonCoord_1=94;refseq.codonCoord_2=94;refseq.codonCoord_3=94;refseq.end_1=30965051;refseq.end_2=30965051;refseq.end_3=30965051;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=615;refseq.mrnaCoord_2=541;refseq.mrnaCoord_3=324;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L94L;refseq.proteinCoordStr_2=p.L94L;refseq.proteinCoordStr_3=p.L94L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.start_1=30965051;refseq.start_2=30965051;refseq.start_3=30965051;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 0/1 chr6 30966836 . C T 109.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=11.13;MQ=97.90;MQ0=0;OQ=3101.22;QD=12.40;RankSumP=0.379516;SB=-912.38;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.525C>T;refseq.codingCoordStr_2=c.525C>T;refseq.codingCoordStr_3=c.525C>T;refseq.codonCoord_1=175;refseq.codonCoord_2=175;refseq.codonCoord_3=175;refseq.end_1=30966836;refseq.end_2=30966836;refseq.end_3=30966836;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=858;refseq.mrnaCoord_2=784;refseq.mrnaCoord_3=567;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S175S;refseq.proteinCoordStr_2=p.S175S;refseq.proteinCoordStr_3=p.S175S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=30966836;refseq.start_2=30966836;refseq.start_3=30966836;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr6 30966866 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.555C>G;refseq.codingCoordStr_2=c.555C>G;refseq.codingCoordStr_3=c.555C>G;refseq.codonCoord_1=185;refseq.codonCoord_2=185;refseq.codonCoord_3=185;refseq.end_1=30966866;refseq.end_2=30966866;refseq.end_3=30966866;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=814;refseq.mrnaCoord_3=597;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C185W;refseq.proteinCoordStr_2=p.C185W;refseq.proteinCoordStr_3=p.C185W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=30966866;refseq.start_2=30966866;refseq.start_3=30966866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 1/0 chr6 30966873 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.562A>G;refseq.codingCoordStr_2=c.562A>G;refseq.codingCoordStr_3=c.562A>G;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.codonCoord_3=188;refseq.end_1=30966873;refseq.end_2=30966873;refseq.end_3=30966873;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=895;refseq.mrnaCoord_2=821;refseq.mrnaCoord_3=604;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R188G;refseq.proteinCoordStr_2=p.R188G;refseq.proteinCoordStr_3=p.R188G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=30966873;refseq.start_2=30966873;refseq.start_3=30966873;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr6 30970402 . C T 125.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.56;MQ0=0;OQ=2012.92;QD=13.79;RankSumP=0.118516;SB=-987.38;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1488C>T;refseq.codingCoordStr_2=c.1488C>T;refseq.codingCoordStr_3=c.1488C>T;refseq.codonCoord_1=496;refseq.codonCoord_2=496;refseq.codonCoord_3=496;refseq.end_1=30970402;refseq.end_2=30970402;refseq.end_3=30970402;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1821;refseq.mrnaCoord_2=1747;refseq.mrnaCoord_3=1530;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S496S;refseq.proteinCoordStr_2=p.S496S;refseq.proteinCoordStr_3=p.S496S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=30970402;refseq.start_2=30970402;refseq.start_3=30970402;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr6 30972808 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=899;Dels=0.00;HRun=0;HaplotypeScore=27.42;MQ=98.61;MQ0=0;OQ=37597.95;QD=41.82;RankSumP=1.00000;SB=-12809.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1797T>C;refseq.codingCoordStr_2=c.1908T>C;refseq.codingCoordStr_3=c.1908T>C;refseq.codonCoord_1=599;refseq.codonCoord_2=636;refseq.codonCoord_3=636;refseq.end_1=30972808;refseq.end_2=30972808;refseq.end_3=30972808;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2130;refseq.mrnaCoord_2=2167;refseq.mrnaCoord_3=1950;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V599V;refseq.proteinCoordStr_2=p.V636V;refseq.proteinCoordStr_3=p.V636V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=30972808;refseq.start_2=30972808;refseq.start_3=30972808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr6 30973183 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=376;Dels=0.00;HRun=3;HaplotypeScore=3.74;MQ=98.51;MQ0=0;OQ=5738.41;QD=15.26;RankSumP=0.215882;SB=-1576.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1935A>C;refseq.codingCoordStr_2=c.2046A>C;refseq.codingCoordStr_3=c.2064A>C;refseq.codonCoord_1=645;refseq.codonCoord_2=682;refseq.codonCoord_3=688;refseq.end_1=30973183;refseq.end_2=30973183;refseq.end_3=30973183;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2268;refseq.mrnaCoord_2=2305;refseq.mrnaCoord_3=2106;refseq.name2_1=DDR1;refseq.name2_2=DDR1;refseq.name2_3=DDR1;refseq.name_1=NM_001954;refseq.name_2=NM_013993;refseq.name_3=NM_013994;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P645P;refseq.proteinCoordStr_2=p.P682P;refseq.proteinCoordStr_3=p.P688P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=67;refseq.start_1=30973183;refseq.start_2=30973183;refseq.start_3=30973183;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 0/1 chr6 30985739 . A C 116.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=10.09;MQ=98.80;MQ0=0;OQ=6766.58;QD=18.04;RankSumP=0.0135320;SB=-2766.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.294A>C;refseq.codonCoord=98;refseq.end=30985739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_001517;refseq.name2=GTF2H4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T98T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=52;refseq.start=30985739;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 30992877 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.350T>G;refseq.codingCoordStr_2=c.860T>G;refseq.codingCoordStr_3=c.770T>G;refseq.codonCoord_1=117;refseq.codonCoord_2=287;refseq.codonCoord_3=257;refseq.end_1=30992877;refseq.end_2=30992877;refseq.end_3=30992877;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=709;refseq.mrnaCoord_2=941;refseq.mrnaCoord_3=937;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V117G;refseq.proteinCoordStr_2=p.V287G;refseq.proteinCoordStr_3=p.V257G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=30992877;refseq.start_2=30992877;refseq.start_3=30992877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr6 30994640 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.623T>G;refseq.codingCoordStr_2=c.1133T>G;refseq.codingCoordStr_3=c.1043T>G;refseq.codonCoord_1=208;refseq.codonCoord_2=378;refseq.codonCoord_3=348;refseq.end_1=30994640;refseq.end_2=30994640;refseq.end_3=30994640;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=1214;refseq.mrnaCoord_3=1210;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V208G;refseq.proteinCoordStr_2=p.V378G;refseq.proteinCoordStr_3=p.V348G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=30994640;refseq.start_2=30994640;refseq.start_3=30994640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr6 30995951 . C T 261.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.69;MQ0=0;OQ=2297.32;QD=17.02;RankSumP=0.313702;SB=-588.58;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.852C>T;refseq.codingCoordStr_2=c.1362C>T;refseq.codingCoordStr_3=c.1272C>T;refseq.codonCoord_1=284;refseq.codonCoord_2=454;refseq.codonCoord_3=424;refseq.end_1=30995951;refseq.end_2=30995951;refseq.end_3=30995951;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1443;refseq.mrnaCoord_3=1439;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S284S;refseq.proteinCoordStr_2=p.S454S;refseq.proteinCoordStr_3=p.S424S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=30995951;refseq.start_2=30995951;refseq.start_3=30995951;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr6 30996140 . T C 253.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=99.00;MQ0=0;OQ=1632.15;QD=16.65;RankSumP=0.482405;SB=-722.76;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.925T>C;refseq.codingCoordStr_2=c.1435T>C;refseq.codingCoordStr_3=c.1345T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=479;refseq.codonCoord_3=449;refseq.end_1=30996140;refseq.end_2=30996140;refseq.end_3=30996140;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1284;refseq.mrnaCoord_2=1516;refseq.mrnaCoord_3=1512;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.W309R;refseq.proteinCoordStr_2=p.W479R;refseq.proteinCoordStr_3=p.W449R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=30996140;refseq.start_2=30996140;refseq.start_3=30996140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/0 chr6 30997368 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=947.18;QD=12.30;RankSumP=0.262627;SB=-378.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1236T>C;refseq.codingCoordStr_2=c.1746T>C;refseq.codingCoordStr_3=c.1656T>C;refseq.codonCoord_1=412;refseq.codonCoord_2=582;refseq.codonCoord_3=552;refseq.end_1=30997368;refseq.end_2=30997368;refseq.end_3=30997368;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1595;refseq.mrnaCoord_2=1827;refseq.mrnaCoord_3=1823;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V412V;refseq.proteinCoordStr_2=p.V582V;refseq.proteinCoordStr_3=p.V552V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=30997368;refseq.start_2=30997368;refseq.start_3=30997368;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr6 30998967 . G A 198.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.57;MQ0=0;OQ=3010.78;QD=15.60;RankSumP=0.375117;SB=-1223.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1873G>A;refseq.codingCoordStr_2=c.2383G>A;refseq.codingCoordStr_3=c.2293G>A;refseq.codonCoord_1=625;refseq.codonCoord_2=795;refseq.codonCoord_3=765;refseq.end_1=30998967;refseq.end_2=30998967;refseq.end_3=30998967;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2232;refseq.mrnaCoord_2=2464;refseq.mrnaCoord_3=2460;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V625M;refseq.proteinCoordStr_2=p.V795M;refseq.proteinCoordStr_3=p.V765M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=30998967;refseq.start_2=30998967;refseq.start_3=30998967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr6 31001106 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=97.77;MQ0=0;OQ=1076.90;QD=13.81;RankSumP=0.390869;SB=-397.06;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2330G>A;refseq.codingCoordStr_2=c.2840G>A;refseq.codingCoordStr_3=c.2750G>A;refseq.codonCoord_1=777;refseq.codonCoord_2=947;refseq.codonCoord_3=917;refseq.end_1=31001106;refseq.end_2=31001106;refseq.end_3=31001106;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2689;refseq.mrnaCoord_2=2921;refseq.mrnaCoord_3=2917;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R777Q;refseq.proteinCoordStr_2=p.R947Q;refseq.proteinCoordStr_3=p.R917Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=31001106;refseq.start_2=31001106;refseq.start_3=31001106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/0 chr6 31001707 . C T 153.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=13.50;MQ=98.13;MQ0=0;OQ=7358.38;QD=38.13;RankSumP=1.00000;SB=-1721.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2613C>T;refseq.codingCoordStr_2=c.3123C>T;refseq.codingCoordStr_3=c.3033C>T;refseq.codonCoord_1=871;refseq.codonCoord_2=1041;refseq.codonCoord_3=1011;refseq.end_1=31001707;refseq.end_2=31001707;refseq.end_3=31001707;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2972;refseq.mrnaCoord_2=3204;refseq.mrnaCoord_3=3200;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D871D;refseq.proteinCoordStr_2=p.D1041D;refseq.proteinCoordStr_3=p.D1011D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=31001707;refseq.start_2=31001707;refseq.start_3=31001707;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr6 31001920 . G A 267.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=98.58;MQ0=0;OQ=1381.03;QD=17.48;RankSumP=0.351880;SB=-603.59;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2726G>A;refseq.codingCoordStr_2=c.3236G>A;refseq.codingCoordStr_3=c.3146G>A;refseq.codonCoord_1=909;refseq.codonCoord_2=1079;refseq.codonCoord_3=1049;refseq.end_1=31001920;refseq.end_2=31001920;refseq.end_3=31001920;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3085;refseq.mrnaCoord_2=3317;refseq.mrnaCoord_3=3313;refseq.name2_1=VARS2;refseq.name2_2=VARS2;refseq.name2_3=VARS2;refseq.name_1=NM_001167733;refseq.name_2=NM_001167734;refseq.name_3=NM_020442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R909Q;refseq.proteinCoordStr_2=p.R1079Q;refseq.proteinCoordStr_3=p.R1049Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=31001920;refseq.start_2=31001920;refseq.start_3=31001920;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/0 chr6 31007503 . T C 313.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.84;MQ0=0;OQ=5856.61;QD=19.27;RankSumP=0.480358;SB=-2462.34;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.110A>G;refseq.codonCoord=37;refseq.end=31007503;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_205854;refseq.name2=SFTA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N37S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=31007503;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr6 31007550 . C T 300.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.91;MQ0=0;OQ=4610.61;QD=20.77;RankSumP=0.432365;SB=-1104.58;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.63G>A;refseq.codonCoord=21;refseq.end=31007550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_205854;refseq.name2=SFTA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G21G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=31007550;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr6 31028103 . G A 176.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=98.88;MQ0=0;OQ=2495.01;QD=13.63;RankSumP=0.0234241;SB=-1203.58;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3883G>A;refseq.codonCoord=1295;refseq.end=31028103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3883;refseq.name=NM_080870;refseq.name2=DPCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1295K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-153;refseq.start=31028103;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 31062224 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=807;Dels=0.00;HRun=0;HaplotypeScore=24.16;MQ=93.60;MQ0=0;OQ=13888.58;QD=17.21;RankSumP=0.000117526;SB=-4470.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.293T>C;refseq.codonCoord=98;refseq.end=31062224;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V98A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=232;refseq.start=31062224;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/0 chr6 31062852 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=926;Dels=0.00;HRun=1;HaplotypeScore=111.10;MQ=75.86;MQ0=28;OQ=13584.22;QD=14.67;RankSumP=0.0268184;SB=-4348.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.921G>A;refseq.codonCoord=307;refseq.end=31062852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T307T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-586;refseq.start=31062852;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/0 chr6 31062898 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.967A>C;refseq.codonCoord=323;refseq.end=31062898;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T323P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-540;refseq.start=31062898;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 31062932 . A G 43 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00284370;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1001A>G;refseq.codonCoord=334;refseq.end=31062932;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.E334G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-506;refseq.start=31062932;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 31063045 . A G 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.0912748;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1114A>G;refseq.codonCoord=372;refseq.end=31063045;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T372A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-393;refseq.start=31063045;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr6 31063392 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.46;MQ0=0;OQ=987.51;QD=16.74;RankSumP=0.180506;SB=-369.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1461G>C;refseq.codonCoord=487;refseq.end=31063392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1712;refseq.name=NM_001010909;refseq.name2=MUC21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S487S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-46;refseq.start=31063392;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr6 31187215 . G A 191.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.05;MQ0=0;OQ=3208.08;QD=40.10;RankSumP=1.00000;SB=-934.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.900C>T;refseq.codonCoord=300;refseq.end=31187215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V300V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-237;refseq.start=31187215;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr6 31187419 . C T 283.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=98.22;MQ0=0;OQ=2246.40;QD=15.82;RankSumP=0.0143304;SB=-1103.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.696G>A;refseq.codonCoord=232;refseq.end=31187419;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.M232I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-441;refseq.start=31187419;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr6 31187622 . T C 175.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.98;MQ0=0;OQ=933.32;QD=32.18;RankSumP=1.00000;SB=-395.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.493A>G;refseq.codonCoord=165;refseq.end=31187622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.K165E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=426;refseq.start=31187622;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 31187623 . G A 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.98;MQ0=0;OQ=213.89;QD=7.38;RankSumP=0.485631;SB=-94.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=31187623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P164P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=425;refseq.start=31187623;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr6 31187868 . C G 228 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.35;MQ0=0;OQ=1516.79;QD=42.13;RankSumP=1.00000;SB=-421.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.247G>C;refseq.codonCoord=83;refseq.end=31187868;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=247;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A83P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=180;refseq.start=31187868;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr6 31187995 . C G 168.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=1662.94;QD=22.47;RankSumP=0.153392;SB=-763.14;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.120G>C;refseq.codonCoord=40;refseq.end=31187995;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_014070;refseq.name2=C6orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L40F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=53;refseq.start=31187995;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr6 31191792 . T C 457.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=94.75;MQ0=0;OQ=5633.01;QD=38.06;RankSumP=1.00000;SB=-1892.89;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1579A>G;refseq.codonCoord_2=527;refseq.end_1=31201421;refseq.end_2=31191792;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1606;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N527D;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-944;refseq.start_1=31190658;refseq.start_2=31191792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 31192027 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=97.85;MQ0=0;OQ=286.33;QD=10.60;RankSumP=0.734897;SB=-126.63;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1344T>C;refseq.codonCoord_2=448;refseq.end_1=31201421;refseq.end_2=31192027;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1371;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C448C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=-1179;refseq.start_1=31190658;refseq.start_2=31192027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr6 31192054 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=95.96;MQ0=0;OQ=329.53;QD=11.77;RankSumP=0.145739;SB=-114.68;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1317C>G;refseq.codonCoord_2=439;refseq.end_1=31201421;refseq.end_2=31192054;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1344;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S439S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-1206;refseq.start_1=31190658;refseq.start_2=31192054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr6 31192142 . A G 29.48 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.09;MQ0=0;QD=4.91;RankSumP=0.400000;SB=-7.00;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1229T>C;refseq.codonCoord_2=410;refseq.end_1=31201421;refseq.end_2=31192142;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1256;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L410S;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTA;refseq.spliceDist_2=1144;refseq.start_1=31190658;refseq.start_2=31192142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=FilteredInAll GT 0/1 chr6 31192149 . A C 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=6.04;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1222T>G;refseq.codonCoord_2=408;refseq.end_1=31201421;refseq.end_2=31192149;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1249;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S408A;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=1137;refseq.start_1=31190658;refseq.start_2=31192149;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=soap-filterIngatk GT 0/1 chr6 31192267 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.21;MQ0=0;OQ=172.94;QD=5.76;RankSumP=0.353519;SB=-51.81;SecondBestBaseQ=25;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1104A>G;refseq.codonCoord_2=368;refseq.end_1=31201421;refseq.end_2=31192267;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1131;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A368A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=1019;refseq.start_1=31190658;refseq.start_2=31192267;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr6 31192618 . C T 188.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=638.57;QD=17.74;RankSumP=0.298988;SB=-281.29;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.753G>A;refseq.codonCoord_2=251;refseq.end_1=31201421;refseq.end_2=31192618;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=780;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R251R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=668;refseq.start_1=31190658;refseq.start_2=31192618;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr6 31192663 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=616.99;QD=21.28;RankSumP=0.739681;SB=-284.29;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.708C>T;refseq.codonCoord_2=236;refseq.end_1=31201421;refseq.end_2=31192663;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=735;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S236S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=623;refseq.start_1=31190658;refseq.start_2=31192663;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr6 31192771 . C T 102.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=3.47;MQ=98.55;MQ0=0;OQ=995.38;QD=16.87;RankSumP=0.0485189;SB=-295.26;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.600G>A;refseq.codonCoord_2=200;refseq.end_1=31201421;refseq.end_2=31192771;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=627;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q200Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=515;refseq.start_1=31190658;refseq.start_2=31192771;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr6 31192943 . T C 63.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=95.61;MQ0=0;OQ=1146.52;QD=28.66;RankSumP=1.00000;SB=-582.91;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.428A>G;refseq.codonCoord_2=143;refseq.end_1=31201421;refseq.end_2=31192943;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=455;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N143S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=343;refseq.start_1=31190658;refseq.start_2=31192943;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr6 31193179 . A G 257.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.88;MQ0=0;OQ=582.24;QD=34.25;RankSumP=1.00000;SB=-137.89;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.192T>C;refseq.codonCoord_2=64;refseq.end_1=31201421;refseq.end_2=31193179;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=219;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G64G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=107;refseq.start_1=31190658;refseq.start_2=31193179;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr6 31193248 . A G 26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=11;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=382.83;QD=34.80;RankSumP=1.00000;SB=-142.89;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.123T>C;refseq.codonCoord_2=41;refseq.end_1=31201421;refseq.end_2=31193248;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=150;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P41P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=38;refseq.start_1=31190658;refseq.start_2=31193248;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr6 31196124 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.50;MQ0=0;OQ=549.42;QD=15.70;RankSumP=0.294942;SB=-221.57;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.52A>T;refseq.codonCoord_2=18;refseq.end_1=31201421;refseq.end_2=31196124;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=79;refseq.name2_1=PSORS1C1;refseq.name2_2=CDSN;refseq.name_1=NM_014068;refseq.name_2=NM_001264;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M18L;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-34;refseq.start_1=31190658;refseq.start_2=31196124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr6 31213870 . A G 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=96.26;MQ0=0;OQ=1668.64;QD=38.81;RankSumP=1.00000;SB=-579.57;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.248T>C;refseq.codonCoord_2=83;refseq.end_1=31214175;refseq.end_2=31213870;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=572;refseq.name2_1=PSORS1C1;refseq.name2_2=PSORS1C2;refseq.name_1=NM_014068;refseq.name_2=NM_014069;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L83P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_2=193;refseq.start_1=31205412;refseq.start_2=31213870;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr6 31214478 . G A 6284.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=96.12;MQ0=0;QD=17.51;RankSumP=0.248076;SB=-1251.19;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.110G>A;refseq.codonCoord_2=37;refseq.end_1=31214717;refseq.end_2=31214478;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=384;refseq.name2_1=PSORS1C2;refseq.name2_2=PSORS1C1;refseq.name_1=NM_014069;refseq.name_2=NM_014068;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R37H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=-58;refseq.start_1=31214073;refseq.start_2=31214478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=soap-filterIngatk GT 1/0 chr6 31215627 . C T 261.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=562;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=96.71;MQ0=0;OQ=11005.54;QD=19.58;RankSumP=0.496184;SB=-3738.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.398C>T;refseq.codonCoord=133;refseq.end=31215627;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_014068;refseq.name2=PSORS1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-190;refseq.start=31215627;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr6 31218370 . G C 109.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=8.61;MQ=98.51;MQ0=0;OQ=2280.60;QD=11.94;RankSumP=0.181789;SB=-1013.81;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2486C>G;refseq.codingCoordStr_2=c.2594C>G;refseq.codingCoordStr_3=c.2327C>G;refseq.codonCoord_1=829;refseq.codonCoord_2=865;refseq.codonCoord_3=776;refseq.end_1=31218370;refseq.end_2=31218370;refseq.end_3=31218370;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2675;refseq.mrnaCoord_2=2783;refseq.mrnaCoord_3=2450;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S829C;refseq.proteinCoordStr_2=p.S865C;refseq.proteinCoordStr_3=p.S776C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.spliceDist_3=103;refseq.start_1=31218370;refseq.start_2=31218370;refseq.start_3=31218370;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr6 31218765 . T A 161.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.90;MQ0=0;OQ=2628.12;QD=14.44;RankSumP=0.279805;SB=-1022.89;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2337A>T;refseq.codingCoordStr_2=c.2445A>T;refseq.codingCoordStr_3=c.2178A>T;refseq.codonCoord_1=779;refseq.codonCoord_2=815;refseq.codonCoord_3=726;refseq.end_1=31218765;refseq.end_2=31218765;refseq.end_3=31218765;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2526;refseq.mrnaCoord_2=2634;refseq.mrnaCoord_3=2301;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A779A;refseq.proteinCoordStr_2=p.A815A;refseq.proteinCoordStr_3=p.A726A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=31218765;refseq.start_2=31218765;refseq.start_3=31218765;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr6 31219159 . T C 457.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.38;MQ0=0;OQ=3773.91;QD=40.15;RankSumP=1.00000;SB=-1680.69;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2070A>G;refseq.codingCoordStr_2=c.2178A>G;refseq.codingCoordStr_3=c.1911A>G;refseq.codonCoord_1=690;refseq.codonCoord_2=726;refseq.codonCoord_3=637;refseq.end_1=31219159;refseq.end_2=31219159;refseq.end_3=31219159;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2259;refseq.mrnaCoord_2=2367;refseq.mrnaCoord_3=2034;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L690L;refseq.proteinCoordStr_2=p.L726L;refseq.proteinCoordStr_3=p.L637L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=31219159;refseq.start_2=31219159;refseq.start_3=31219159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr6 31220716 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=17.32;MQ=98.15;MQ0=0;OQ=2776.84;QD=12.07;RankSumP=0.0618563;SB=-99.11;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1882G>T;refseq.codingCoordStr_2=c.1990G>T;refseq.codingCoordStr_3=c.1723G>T;refseq.codonCoord_1=628;refseq.codonCoord_2=664;refseq.codonCoord_3=575;refseq.end_1=31220716;refseq.end_2=31220716;refseq.end_3=31220716;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2071;refseq.mrnaCoord_2=2179;refseq.mrnaCoord_3=1846;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G628C;refseq.proteinCoordStr_2=p.G664C;refseq.proteinCoordStr_3=p.G575C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=31220716;refseq.start_2=31220716;refseq.start_3=31220716;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/0 chr6 31221009 . A G 261.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=4.28;MQ=98.26;MQ0=0;OQ=3318.70;QD=36.07;RankSumP=1.00000;SB=-1578.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1681T>C;refseq.codingCoordStr_2=c.1789T>C;refseq.codingCoordStr_3=c.1522T>C;refseq.codonCoord_1=561;refseq.codonCoord_2=597;refseq.codonCoord_3=508;refseq.end_1=31221009;refseq.end_2=31221009;refseq.end_3=31221009;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1870;refseq.mrnaCoord_2=1978;refseq.mrnaCoord_3=1645;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L561L;refseq.proteinCoordStr_2=p.L597L;refseq.proteinCoordStr_3=p.L508L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=31221009;refseq.start_2=31221009;refseq.start_3=31221009;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr6 31221031 . G A 449.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.18;MQ0=0;OQ=3597.50;QD=38.68;RankSumP=1.00000;SB=-1744.39;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1659C>T;refseq.codingCoordStr_2=c.1767C>T;refseq.codingCoordStr_3=c.1500C>T;refseq.codonCoord_1=553;refseq.codonCoord_2=589;refseq.codonCoord_3=500;refseq.end_1=31221031;refseq.end_2=31221031;refseq.end_3=31221031;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1848;refseq.mrnaCoord_2=1956;refseq.mrnaCoord_3=1623;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D553D;refseq.proteinCoordStr_2=p.D589D;refseq.proteinCoordStr_3=p.D500D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=31221031;refseq.start_2=31221031;refseq.start_3=31221031;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr6 31224189 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=97.42;MQ0=0;OQ=1570.69;QD=16.53;RankSumP=0.0893554;SB=-421.99;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1444C>T;refseq.codingCoordStr_2=c.1552C>T;refseq.codingCoordStr_3=c.1285C>T;refseq.codonCoord_1=482;refseq.codonCoord_2=518;refseq.codonCoord_3=429;refseq.end_1=31224189;refseq.end_2=31224189;refseq.end_3=31224189;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1633;refseq.mrnaCoord_2=1741;refseq.mrnaCoord_3=1408;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L482L;refseq.proteinCoordStr_2=p.L518L;refseq.proteinCoordStr_3=p.L429L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=31224189;refseq.start_2=31224189;refseq.start_3=31224189;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr6 31224199 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=8.72;MQ=97.78;MQ0=0;OQ=884.38;QD=9.51;RankSumP=0.00853922;SB=-216.66;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1434C>T;refseq.codingCoordStr_2=c.1542C>T;refseq.codingCoordStr_3=c.1275C>T;refseq.codonCoord_1=478;refseq.codonCoord_2=514;refseq.codonCoord_3=425;refseq.end_1=31224199;refseq.end_2=31224199;refseq.end_3=31224199;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1623;refseq.mrnaCoord_2=1731;refseq.mrnaCoord_3=1398;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A478A;refseq.proteinCoordStr_2=p.A514A;refseq.proteinCoordStr_3=p.A425A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=31224199;refseq.start_2=31224199;refseq.start_3=31224199;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=filterInsoap-gatk GT 1/0 chr6 31224225 . G A 111.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=98.09;MQ0=0;OQ=2833.00;QD=30.46;RankSumP=1.00000;SB=-934.33;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1408C>T;refseq.codingCoordStr_2=c.1516C>T;refseq.codingCoordStr_3=c.1249C>T;refseq.codonCoord_1=470;refseq.codonCoord_2=506;refseq.codonCoord_3=417;refseq.end_1=31224225;refseq.end_2=31224225;refseq.end_3=31224225;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1597;refseq.mrnaCoord_2=1705;refseq.mrnaCoord_3=1372;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R470W;refseq.proteinCoordStr_2=p.R506W;refseq.proteinCoordStr_3=p.R417W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=31224225;refseq.start_2=31224225;refseq.start_3=31224225;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 1/1 chr6 31226544 . C G 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=11950.86;QD=46.14;RankSumP=1.00000;SB=-2780.74;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.930G>C;refseq.codingCoordStr_2=c.1038G>C;refseq.codingCoordStr_3=c.771G>C;refseq.codonCoord_1=310;refseq.codonCoord_2=346;refseq.codonCoord_3=257;refseq.end_1=31226544;refseq.end_2=31226544;refseq.end_3=31226544;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1119;refseq.mrnaCoord_2=1227;refseq.mrnaCoord_3=894;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V310V;refseq.proteinCoordStr_2=p.V346V;refseq.proteinCoordStr_3=p.V257V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=31226544;refseq.start_2=31226544;refseq.start_3=31226544;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr6 31230294 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=98.77;MQ0=0;OQ=6188.86;QD=26.68;RankSumP=0.000567574;SB=-2560.08;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.651C>G;refseq.codingCoordStr_2=c.759C>G;refseq.codingCoordStr_3=c.492C>G;refseq.codonCoord_1=217;refseq.codonCoord_2=253;refseq.codonCoord_3=164;refseq.end_1=31230294;refseq.end_2=31230294;refseq.end_3=31230294;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=948;refseq.mrnaCoord_3=615;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S217R;refseq.proteinCoordStr_2=p.S253R;refseq.proteinCoordStr_3=p.S164R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=31230294;refseq.start_2=31230294;refseq.start_3=31230294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=filterInsoap-gatk GT 0/1 chr6 31230309 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=2;HaplotypeScore=8.60;MQ=98.46;MQ0=0;OQ=2570.51;QD=12.42;RankSumP=0.180805;SB=-1093.97;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.636C>T;refseq.codingCoordStr_2=c.744C>T;refseq.codingCoordStr_3=c.477C>T;refseq.codonCoord_1=212;refseq.codonCoord_2=248;refseq.codonCoord_3=159;refseq.end_1=31230309;refseq.end_2=31230309;refseq.end_3=31230309;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=825;refseq.mrnaCoord_2=933;refseq.mrnaCoord_3=600;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N212N;refseq.proteinCoordStr_2=p.N248N;refseq.proteinCoordStr_3=p.N159N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=31230309;refseq.start_2=31230309;refseq.start_3=31230309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr6 31230461 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=94.22;MQ0=0;OQ=377.59;QD=12.18;RankSumP=0.471327;SB=-96.57;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.484C>T;refseq.codingCoordStr_2=c.592C>T;refseq.codingCoordStr_3=c.325C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=198;refseq.codonCoord_3=109;refseq.end_1=31230461;refseq.end_2=31230461;refseq.end_3=31230461;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=781;refseq.mrnaCoord_3=448;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R162W;refseq.proteinCoordStr_2=p.R198W;refseq.proteinCoordStr_3=p.R109W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.spliceDist_3=95;refseq.start_1=31230461;refseq.start_2=31230461;refseq.start_3=31230461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 1/0 chr6 31230479 . G A 225.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=95.10;MQ0=0;OQ=722.95;QD=17.63;RankSumP=0.467546;SB=-293.33;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.466C>T;refseq.codingCoordStr_2=c.574C>T;refseq.codingCoordStr_3=c.307C>T;refseq.codonCoord_1=156;refseq.codonCoord_2=192;refseq.codonCoord_3=103;refseq.end_1=31230479;refseq.end_2=31230479;refseq.end_3=31230479;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=763;refseq.mrnaCoord_3=430;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R156W;refseq.proteinCoordStr_2=p.R192W;refseq.proteinCoordStr_3=p.R103W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.start_1=31230479;refseq.start_2=31230479;refseq.start_3=31230479;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 1/0 chr6 31232485 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.389+2;refseq.codingCoordStr_2=c.497+2;refseq.codingCoordStr_3=c.230+2;refseq.end_1=31232485;refseq.end_2=31232485;refseq.end_3=31232485;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=31232485;refseq.start_2=31232485;refseq.start_3=31232485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr6 31232828 . C T 153.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.81;MQ0=0;OQ=1839.60;QD=17.19;RankSumP=0.440987;SB=-617.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.234G>A;refseq.codingCoordStr_2=c.234G>A;refseq.codingCoordStr_3=c.-34G>A;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.end_1=31232828;refseq.end_2=31232828;refseq.end_3=31232828;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=423;refseq.mrnaCoord_3=90;refseq.name2_1=CCHCR1;refseq.name2_2=CCHCR1;refseq.name2_3=CCHCR1;refseq.name_1=NM_001105563;refseq.name_2=NM_001105564;refseq.name_3=NM_019052;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.W78*;refseq.proteinCoordStr_2=p.W78*;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=31232828;refseq.start_2=31232828;refseq.start_3=31232828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=Intersection GT 0/1 chr6 31237289 . C T 186.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=98.42;MQ0=0;OQ=2247.44;QD=14.88;RankSumP=0.0384611;SB=-451.40;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.325C>T;refseq.codingCoordStr_2=c.325C>T;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=31237289;refseq.end_2=31237289;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=849;refseq.mrnaCoord_2=1095;refseq.name2_1=TCF19;refseq.name2_2=TCF19;refseq.name_1=NM_001077511;refseq.name_2=NM_007109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P109S;refseq.proteinCoordStr_2=p.P109S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=31237289;refseq.start_2=31237289;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr6 31237595 . A G 367.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=1922.99;QD=38.46;RankSumP=1.00000;SB=-484.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.631A>G;refseq.codingCoordStr_2=c.631A>G;refseq.codonCoord_1=211;refseq.codonCoord_2=211;refseq.end_1=31237595;refseq.end_2=31237595;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1155;refseq.mrnaCoord_2=1401;refseq.name2_1=TCF19;refseq.name2_2=TCF19;refseq.name_1=NM_001077511;refseq.name_2=NM_007109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M211V;refseq.proteinCoordStr_2=p.M211V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-167;refseq.spliceDist_2=-167;refseq.start_1=31237595;refseq.start_2=31237595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr6 31237621 . A C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=2.87;MQ=98.85;MQ0=0;OQ=3131.14;QD=39.63;RankSumP=1.00000;SB=-535.07;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.657A>C;refseq.codingCoordStr_2=c.657A>C;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=31237621;refseq.end_2=31237621;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1181;refseq.mrnaCoord_2=1427;refseq.name2_1=TCF19;refseq.name2_2=TCF19;refseq.name_1=NM_001077511;refseq.name_2=NM_007109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P219P;refseq.proteinCoordStr_2=p.P219P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-141;refseq.spliceDist_2=-141;refseq.start_1=31237621;refseq.start_2=31237621;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr6 31240393 . G A 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.537C>T;refseq.codingCoordStr_2=c.1047C>T;refseq.codingCoordStr_3=c.537C>T;refseq.codonCoord_1=179;refseq.codonCoord_2=349;refseq.codonCoord_3=179;refseq.end_1=31240393;refseq.end_2=31240393;refseq.end_3=31240393;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=947;refseq.mrnaCoord_2=1101;refseq.mrnaCoord_3=1433;refseq.name2_1=POU5F1;refseq.name2_2=POU5F1;refseq.name2_3=POU5F1;refseq.name_1=NM_001173531;refseq.name_2=NM_002701;refseq.name_3=NM_203289;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S179S;refseq.proteinCoordStr_2=p.S349S;refseq.proteinCoordStr_3=p.S179S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=231;refseq.spliceDist_2=231;refseq.spliceDist_3=231;refseq.start_1=31240393;refseq.start_2=31240393;refseq.start_3=31240393;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=FilteredInAll GT 1/1 chr6 31246086 . G A 159.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=5.54;MQ=43.70;MQ0=11;OQ=1488.60;QD=17.93;RankSumP=0.0763398;SB=-407.46;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.291C>T;refseq.codonCoord=97;refseq.end=31246086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_002701;refseq.name2=POU5F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G97G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-115;refseq.start=31246086;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr6 31246356 . C T 40.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.48;MQ0=1;QD=5.76;RankSumP=0.666667;SB=-46.53;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.21G>A;refseq.codonCoord=7;refseq.end=31246356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_002701;refseq.name2=POU5F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=75;refseq.start=31246356;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr6 31345103 . T C 102.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=910.05;QD=16.25;RankSumP=0.520748;SB=-387.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1087A>G;refseq.codonCoord=363;refseq.end=31345103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T363A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=31345103;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 31345141 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.59;MQ0=0;OQ=861.48;QD=14.60;RankSumP=0.554255;SB=-271.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1049G>C;refseq.codonCoord=350;refseq.end=31345141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C350S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=31345141;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr6 31345765 rs41556617 A T 27.85 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=91.24;MQ0=0;QD=0.14;SB=152.50;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.972T>A;refseq.codonCoord=324;refseq.end=31345765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L324L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-44;refseq.start=31345765;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:141,53:144:-49.44,-43.37,-525.31:60.68 chr6 31345781 rs17413387 A G 2.04 PASS AC=1;AF=0.50;AN=2;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=7.82;MQ=91.76;MQ0=0;OQ=1852.30;QD=8.02;SB=-276.17;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.956T>C;refseq.codonCoord=319;refseq.end=31345781;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V319A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-60;refseq.start=31345781;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=gatk GT:AD:DP:GL:GQ 0/1:149,78:197:-247.84,-59.33,-582.07:99 chr6 31345812 rs1050180 T C 8.88 PASS AC=1;AF=0.50;AN=2;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=7.80;MQ=90.78;MQ0=0;OQ=2191.01;QD=9.44;SB=-957.92;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.925A>G;refseq.codonCoord=309;refseq.end=31345812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.M309V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=30;refseq.start=31345812;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:147,84:216:-287.44,-65.06,-583.55:99 chr6 31345837 rs34794906 T C 8.62 PASS AC=1;AF=0.50;AN=2;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=10.57;MQ=90.24;MQ0=0;OQ=1978.61;QD=10.04;SB=-503.77;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.900A>G;refseq.codonCoord=300;refseq.end=31345837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=907;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P300P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=31345837;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:115,81:170:-252.36,-51.21,-413.96:99 chr6 31345988 rs41551714 T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=97.55;MQ0=0;OQ=53.48;QD=0.42;SB=137.49;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.873A>G;refseq.codonCoord=291;refseq.end=31345988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q291Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-23;refseq.start=31345988;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:115,11:120:-44.77,-36.14,-478.22:86.31 chr6 31346008 rs2308622 T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=95.85;MQ0=1;OQ=340.93;QD=2.30;SB=32.69;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.853A>G;refseq.codonCoord=285;refseq.end=31346008;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.M285V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-43;refseq.start=31346008;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:126,22:143:-80.45,-43.08,-496.62:99 chr6 31346032 . G C 17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=89.68;MQ0=2;OQ=1244.77;QD=7.03;RankSumP=0.0943493;SB=-381.51;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.829C>G;refseq.codonCoord=277;refseq.end=31346032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q277E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-67;refseq.start=31346032;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 0/1 chr6 31346047 . C T 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=88.55;MQ0=2;OQ=1667.52;QD=8.46;RankSumP=0.0871870;SB=-443.37;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.814G>A;refseq.codonCoord=272;refseq.end=31346047;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V272M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-82;refseq.start=31346047;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr6 31346114 rs1050317 G A 157.22 PASS AC=1;AF=0.50;AN=2;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=86.39;MQ0=18;OQ=4885.76;QD=14.99;SB=-1771.94;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.747C>T;refseq.codonCoord=249;refseq.end=31346114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T249T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=128;refseq.start=31346114;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=gatk GT:AD:DP:GL:GQ 0/1:199,127:288:-487.58,-86.73,-713.99:99 chr6 31346117 . C T 117.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=4.48;MQ=85.10;MQ0=25;OQ=4866.95;QD=14.98;RankSumP=0.00276876;SB=-1759.84;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.744G>A;refseq.codonCoord=248;refseq.end=31346117;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q248Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=125;refseq.start=31346117;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=filterInsoap-gatk GT 0/1 chr6 31346134 . G A 152.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=79.59;MQ0=59;OQ=5404.31;QD=14.41;RankSumP=0.000450355;SB=-1676.50;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.727C>T;refseq.codonCoord=243;refseq.end=31346134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R243W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=108;refseq.start=31346134;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=filterInsoap-gatk GT 1/0 chr6 31346209 . G C 141.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=17.39;MQ=80.61;MQ0=23;OQ=8705.58;QD=18.56;RankSumP=0.0671441;SB=-3322.96;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.652C>G;refseq.codonCoord=218;refseq.end=31346209;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L218V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=33;refseq.start=31346209;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr6 31346213 . G A 122.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=18.33;MQ=81.33;MQ0=20;OQ=7806.25;QD=16.82;RankSumP=0.236984;SB=-2670.18;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.648C>T;refseq.codonCoord=216;refseq.end=31346213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.H216H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=29;refseq.start=31346213;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 31346238 rs1131096 G T 184.20 PASS AC=1;AF=0.50;AN=2;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=6.90;MQ=86.72;MQ0=1;OQ=5840.17;QD=15.37;SB=-1093.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.623C>A;refseq.codonCoord=208;refseq.end=31346238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=31346238;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:223,157:366:-583.02,-110.21,-882.52:99 chr6 31346830 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=254;Dels=0.00;HRun=2;HaplotypeScore=35.05;MQ=85.61;MQ0=8;OQ=2676.37;QD=10.54;RankSumP=0.324843;SB=-589.56;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.618A>G;refseq.codonCoord=206;refseq.end=31346830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A206A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=31346830;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr6 31346888 . G A 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=11.48;MQ=74.93;MQ0=11;OQ=1424.66;QD=5.89;RankSumP=0.432353;SB=-665.29;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.560C>T;refseq.codonCoord=187;refseq.end=31346888;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-60;refseq.start=31346888;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr6 31346889 . T G 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=11.70;MQ=74.83;MQ0=11;OQ=1501.25;QD=6.28;RankSumP=0.495492;SB=-748.84;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.559A>C;refseq.codonCoord=187;refseq.end=31346889;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-61;refseq.start=31346889;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 31346908 rs41547419 C G 299.05 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=73.05;MQ=73.62;MQ0=6;QD=1.60;SB=-57.40;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.540G>C;refseq.codonCoord=180;refseq.end=31346908;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L180L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-80;refseq.start=31346908;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:168,19:159:-81.07,-47.89,-684.82:99 chr6 31346909 . A C 833.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=71.05;MQ=73.95;MQ0=5;QD=4.55;RankSumP=0.0648048;SB=-337.96;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.539T>G;refseq.codonCoord=180;refseq.end=31346909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L180R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-81;refseq.start=31346909;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap-filterIngatk GT 0/1 chr6 31346910 rs697743 G C 247.84 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=65.06;MQ=74.09;MQ0=5;QD=1.42;SB=-46.72;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.538C>G;refseq.codonCoord=180;refseq.end=31346910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L180V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-82;refseq.start=31346910;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:157,18:150:-73.27,-45.20,-617.72:99 chr6 31346921 . G A,T 65 PASS AC=0,1;AF=0.00,0.50;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=36.77;MQ=74.59;MQ0=9;OQ=939.89;QD=6.67;RankSumP=0.597083;SB=-289.99;SecondBestBaseQ=29;set=soap-filterIngatk GT 0/2 chr6 31346936 . A C 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=6.45;MQ=70.06;MQ0=16;OQ=1866.10;QD=13.23;RankSumP=0.394130;SB=-890.29;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.512T>G;refseq.codonCoord=171;refseq.end=31346936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L171W;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-108;refseq.start=31346936;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr6 31346971 . G C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=6.36;MQ=56.46;MQ0=21;OQ=2061.63;QD=12.35;RankSumP=0.194003;SB=-501.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.477C>G;refseq.codonCoord=159;refseq.end=31346971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A159A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=134;refseq.start=31346971;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 31346985 . G T 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=169;Dels=0.00;HRun=0;HaplotypeScore=14.86;MQ=56.84;MQ0=24;OQ=928.76;QD=5.50;RankSumP=0.452427;SB=-137.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.463C>A;refseq.codonCoord=155;refseq.end=31346985;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R155S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=120;refseq.start=31346985;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr6 31347028 rs1065406 G T 112.12 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=30.58;MQ=71.63;MQ0=10;QD=1.54;SB=38.11;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.420C>A;refseq.codonCoord=140;refseq.end=31347028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S140S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=77;refseq.start=31347028;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:64,9:58:-31.96,-17.47,-189.90:99 chr6 31347029 . G T 588.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=36.36;MQ=72.36;MQ0=9;QD=8.40;RankSumP=0.341182;SB=-272.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.419C>A;refseq.codonCoord=140;refseq.end=31347029;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S140Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=76;refseq.start=31347029;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr6 31347036 rs2308575 C T 99.21 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=32.00;MQ=76.79;MQ0=7;QD=1.53;SB=35.14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.412G>A;refseq.codonCoord=138;refseq.end=31347036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D138N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=69;refseq.start=31347036;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:55,7:50:-31.67,-18.47,-176.46:99 chr6 31347039 rs2308574 A G 31.20 ESPStandard;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=17.70;MQ=76.84;MQ0=5;QD=0.53;SB=35.14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.409T>C;refseq.codonCoord=137;refseq.end=31347039;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y137H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=66;refseq.start=31347039;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:48,5:42:-19.06,-12.66,-141.23:64.03 chr6 31347080 . G C,T 73 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=86.76;MQ0=0;OQ=710.22;QD=22.91;RankSumP=0.323045;SB=-138.19;SecondBestBaseQ=34;set=Intersection GT 1/2 chr6 31347087 . T A 51.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=87.59;MQ0=0;OQ=376.18;QD=14.47;RankSumP=0.425641;SB=-76.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.361A>T;refseq.codonCoord=121;refseq.end=31347087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R121W;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=18;refseq.start=31347087;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr6 31347357 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=79.22;MQ0=4;OQ=561.58;QD=6.38;RankSumP=0.169524;SB=-220.74;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.341A>C;refseq.codonCoord=114;refseq.end=31347357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.D114A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=31347357;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr6 31347409 . C T 140.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=92.53;MQ0=1;OQ=1678.76;QD=16.30;RankSumP=0.439359;SB=-583.37;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.289G>A;refseq.codonCoord=97;refseq.end=31347409;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-55;refseq.start=31347409;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr6 31347428 . C G 149.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=96.03;MQ0=0;OQ=1958.88;QD=16.46;RankSumP=0.353545;SB=-449.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.270G>C;refseq.codonCoord=90;refseq.end=31347428;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.K90N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-74;refseq.start=31347428;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr6 31347492 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.154457;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.206G>A;refseq.codonCoord=69;refseq.end=31347492;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G69E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=133;refseq.start=31347492;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr6 31347523 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.450629;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.175C>A;refseq.codonCoord=59;refseq.end=31347523;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R59R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=102;refseq.start=31347523;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chr6 31347572 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=20.50;MQ=76.79;MQ0=8;OQ=638.99;QD=6.03;RankSumP=0.100359;SB=-303.92;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.126A>G;refseq.codonCoord=42;refseq.end=31347572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=53;refseq.start=31347572;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr6 31347581 . G A 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=22.17;MQ=74.44;MQ0=7;OQ=113.01;QD=1.22;RankSumP=0.161725;SB=29.10;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=31347581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=124;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P39P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=44;refseq.start=31347581;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr6 31347592 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=61.16;MQ=72.66;MQ0=7;OQ=899.57;QD=10.58;RankSumP=0.467193;SB=-130.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.106G>A;refseq.codonCoord=36;refseq.end=31347592;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V36M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=33;refseq.start=31347592;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 0/1 chr6 31347781 rs2308529 C G 22.62 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=5.78;MQ=90.83;MQ0=0;OQ=1635.37;QD=21.52;SB=-842.04;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.47G>C;refseq.codonCoord=16;refseq.end=31347781;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=54;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-27;refseq.start=31347781;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:34,42:65:-186.40,-19.58,-119.77:99 chr6 31347800 rs2308527 G T 111.38 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=92.46;MQ0=0;OQ=1029.65;QD=14.92;SB=-519.86;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.28C>A;refseq.codonCoord=10;refseq.end=31347800;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=35;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L10I;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=35;refseq.start=31347800;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=gatk GT:AD:DP:GL:GQ 0/1:34,35:63:-125.22,-18.97,-115.59:99 chr6 31347806 rs2308525 C T 47.16 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=92.59;MQ0=0;OQ=1050.01;QD=14.79;SB=-345.88;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.22G>A;refseq.codonCoord=8;refseq.end=31347806;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=29;refseq.name=NM_002117;refseq.name2=HLA-C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=29;refseq.start=31347806;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:33,36:63:-127.26,-18.98,-125.26:99 chr6 31430282 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.88;MQ0=0;OQ=1661.12;QD=21.03;RankSumP=0.109712;SB=-749.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1046G>C;refseq.codonCoord=349;refseq.end=31430282;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C349S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=31430282;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr6 31430867 . A G 204.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=98.02;MQ0=0;OQ=13716.67;QD=37.68;RankSumP=1.00000;SB=-4969.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1008T>C;refseq.codonCoord=336;refseq.end=31430867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S336S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=31430867;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr6 31430890 . C T 114.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=12.55;MQ=97.98;MQ0=0;OQ=5823.95;QD=14.38;RankSumP=0.000182622;SB=-2407.16;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.985G>A;refseq.codonCoord=329;refseq.end=31430890;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A329T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-28;refseq.start=31430890;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 0/1 chr6 31430959 . C T 158.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=97.53;MQ0=0;OQ=4651.53;QD=14.67;RankSumP=0.282016;SB=-998.38;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.916G>A;refseq.codonCoord=306;refseq.end=31430959;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V306I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=21;refseq.start=31430959;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 31430975 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=6.85;MQ=96.75;MQ0=0;OQ=3014.71;QD=11.82;RankSumP=0.433788;SB=-794.74;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.900G>A;refseq.codonCoord=300;refseq.end=31430975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P300P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=31430975;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr6 31431275 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=75.12;MQ0=123;OQ=15134.05;QD=28.94;RankSumP=1.00000;SB=-5846.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.693T>C;refseq.codonCoord=231;refseq.end=31431275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G231G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=74;refseq.start=31431275;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr6 31431924 . A C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=4.78;MQ=82.00;MQ0=3;OQ=2563.21;QD=27.56;RankSumP=1.00000;SB=-540.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.618T>G;refseq.codonCoord=206;refseq.end=31431924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A206A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=31431924;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr6 31431932 rs1131285 C G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=80.87;MQ0=3;OQ=233.46;QD=2.68;SB=-1.28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.610G>C;refseq.codonCoord=204;refseq.end=31431932;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E204Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=31431932;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:67,20:55:-43.21,-16.58,-209.28:99 chr6 31431937 . T G 239.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=78.45;MQ0=4;OQ=1618.55;QD=20.49;RankSumP=1.00000;SB=-836.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.605A>C;refseq.codonCoord=202;refseq.end=31431937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K202T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-15;refseq.start=31431937;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 31431939 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.0289077;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.603C>G;refseq.codonCoord=201;refseq.end=31431939;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D201E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-17;refseq.start=31431939;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr6 31431982 . T G 220.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=68.25;MQ0=9;OQ=1080.31;QD=17.71;RankSumP=1.00000;SB=-454.33;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.560A>C;refseq.codonCoord=187;refseq.end=31431982;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=614;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E187A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-60;refseq.start=31431982;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr6 31431983 . C T 71.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=68.35;MQ0=8;OQ=1261.03;QD=20.67;RankSumP=1.00000;SB=-621.73;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.559G>A;refseq.codonCoord=187;refseq.end=31431983;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E187K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-61;refseq.start=31431983;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 31432002 rs9266141 C G 147.47 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=65.67;MQ0=9;QD=2.20;SB=-57.83;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.540G>C;refseq.codonCoord=180;refseq.end=31432002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R180R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-80;refseq.start=31432002;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:40,27:30:-27.07,-9.04,-114.25:99 chr6 31432003 rs697742 C T 355.17 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=7.49;MQ=66.79;MQ0=9;QD=5.00;SB=-126.09;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.539G>A;refseq.codonCoord=180;refseq.end=31432003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R180Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-81;refseq.start=31432003;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:40,26:43:-63.16,-24.36,-113.92:99 chr6 31432004 rs9266144 G C 724.45 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=7.17;MQ=67.34;MQ0=9;QD=10.06;SB=-279.45;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.538C>G;refseq.codonCoord=180;refseq.end=31432004;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R180G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-82;refseq.start=31432004;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:44,28:50:-90.80,-15.07,-134.37:99 chr6 31432015 rs63747960 T A 2.85 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=63.92;MQ0=10;OQ=618.41;QD=8.59;SB=-316.73;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.527A>T;refseq.codonCoord=176;refseq.end=31432015;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E176V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-93;refseq.start=31432015;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:44,26:48:-79.58,-14.46,-108.38:99 chr6 31432056 . C G 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=60.68;MQ0=31;OQ=2154.10;QD=23.41;RankSumP=1.00000;SB=-807.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.486G>C;refseq.codonCoord=162;refseq.end=31432056;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T162T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-134;refseq.start=31432056;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr6 31432065 . G C 104.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=4.25;MQ=65.73;MQ0=31;OQ=1566.16;QD=16.31;RankSumP=0.0423703;SB=-704.45;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.477C>G;refseq.codonCoord=159;refseq.end=31432065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A159A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=134;refseq.start=31432065;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 31432130 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=83.15;MQ0=6;OQ=1640.53;QD=26.04;RankSumP=0.0408739;SB=-485.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.412G>A;refseq.codonCoord=138;refseq.end=31432130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D138N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=69;refseq.start=31432130;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr6 31432133 . G A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.659121;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.409C>T;refseq.codonCoord=137;refseq.end=31432133;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H137Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=66;refseq.start=31432133;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chr6 31432510 rs1131204 C T 34.61 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=15.21;MQ=86.70;MQ0=0;QD=0.31;SB=-23.11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.277G>A;refseq.codonCoord=93;refseq.end=31432510;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A93T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-67;refseq.start=31432510;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:70,41:68:-27.22,-20.48,-239.16:67.45 chr6 31432515 . T A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=5.41;MQ=87.25;MQ0=0;OQ=408.74;QD=3.49;RankSumP=0.139991;SB=-83.35;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.272A>T;refseq.codonCoord=91;refseq.end=31432515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y91F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-72;refseq.start=31432515;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr6 31432622 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=16.45;MQ=70.51;MQ0=26;OQ=6141.53;QD=27.92;RankSumP=1.00000;SB=-916.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.165C>G;refseq.codonCoord=55;refseq.end=31432622;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T55T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=92;refseq.start=31432622;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 31432645 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=65.28;MQ0=32;OQ=1213.24;QD=8.20;RankSumP=0.0697892;SB=-184.77;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.142T>G;refseq.codonCoord=48;refseq.end=31432645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S48A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=69;refseq.start=31432645;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr6 31432681 . C T 1119.51 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.34;MQ0=19;QD=22.39;RankSumP=1.00000;SB=-122.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.106G>A;refseq.codonCoord=36;refseq.end=31432681;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=160;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V36M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=33;refseq.start=31432681;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/1 chr6 31432684 . A C 773.34 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.66;MQ0=16;QD=17.19;RankSumP=1.00000;SB=-91.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.103T>G;refseq.codonCoord=35;refseq.end=31432684;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S35A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=30;refseq.start=31432684;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/1 chr6 31432690 . A C 91.59 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=57.75;MQ0=15;QD=2.35;RankSumP=0.428571;SB=-45.56;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.97T>G;refseq.codonCoord=33;refseq.end=31432690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y33D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=24;refseq.start=31432690;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr6 31432871 rs1131159 G C 0.74 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=94.18;MQ0=0;OQ=524.84;QD=8.47;SB=-272.40;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.44C>G;refseq.codonCoord=15;refseq.end=31432871;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A15G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-30;refseq.start=31432871;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=gatk GT:AD:DP:GL:GQ 0/1:45,17:52:-71.43,-15.67,-168.02:99 chr6 31432874 rs1131156 G C 0.58 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=3.81;MQ=94.34;MQ0=0;OQ=521.78;QD=8.15;SB=-273.38;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.41C>G;refseq.codonCoord=14;refseq.end=31432874;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=95;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S14W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-33;refseq.start=31432874;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=gatk GT:AD:DP:GL:GQ 0/1:46,17:57:-72.63,-17.17,-194.00:99 chr6 31432890 rs1050462 C G 0.04 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=3.56;MQ=95.31;MQ0=0;OQ=137.18;QD=2.02;SB=-34.71;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.25G>C;refseq.codonCoord=9;refseq.end=31432890;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_005514;refseq.name2=HLA-B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V9L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-49;refseq.start=31432890;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:51,16:53:-32.98,-15.98,-200.32:99 chr6 31539792 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=24.17;MQ=98.51;MQ0=0;OQ=6911.02;QD=15.36;RankSumP=0.445257;SB=-1800.72;SecondBestBaseQ=26;refseq.chr=chr6;refseq.codingCoordStr=c.*601A>G;refseq.end=31539792;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=766;refseq.name=NM_006674;refseq.name2=HCP5;refseq.positionType=utr3;refseq.spliceDist=666;refseq.start=31539792;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 31581525 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=83.69;MQ0=3;OQ=854.85;QD=15.27;RankSumP=0.711311;SB=-144.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.223A>G;refseq.codonCoord=75;refseq.end=31581525;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_005931;refseq.name2=MICB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N75D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-103;refseq.start=31581525;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr6 31581540 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=90.33;MQ0=2;OQ=683.20;QD=15.18;RankSumP=0.433060;SB=-137.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.238A>G;refseq.codonCoord=80;refseq.end=31581540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_005931;refseq.name2=MICB;refseq.positionType=CDS;refseq.proteinCoordStr=p.K80E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-88;refseq.start=31581540;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr6 31581936 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=73.44;MQ0=9;OQ=292.83;QD=8.13;RankSumP=0.361930;SB=-32.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.363C>G;refseq.codonCoord=121;refseq.end=31581936;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_005931;refseq.name2=MICB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I121M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=38;refseq.start=31581936;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr6 31581979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=91.84;MQ0=1;OQ=572.22;QD=10.60;RankSumP=0.659665;SB=-142.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.406G>A;refseq.codonCoord=136;refseq.end=31581979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_005931;refseq.name2=MICB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D136N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=81;refseq.start=31581979;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr6 31585660 . A G 209.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=11.58;MQ=97.68;MQ0=0;OQ=5226.26;QD=16.38;RankSumP=0.215921;SB=-1907.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1147A>G;refseq.codonCoord=383;refseq.end=31585660;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1263;refseq.name=NM_005931;refseq.name2=MICB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T383A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=123;refseq.start=31585660;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr6 31604904 . G A 287.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.97;MQ0=0;OQ=8945.62;QD=41.61;RankSumP=1.00000;SB=-4465.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.134G>A;refseq.codonCoord=45;refseq.end=31604904;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_001011700;refseq.name2=MCCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-38;refseq.start=31604904;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr6 31606900 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=9.84777e-09;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1031C>A;refseq.codingCoordStr_2=c.1031C>A;refseq.codonCoord_1=344;refseq.codonCoord_2=344;refseq.end_1=31606900;refseq.end_2=31606900;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1662;refseq.mrnaCoord_2=1532;refseq.name2_1=BAT1;refseq.name2_2=BAT1;refseq.name_1=NM_004640;refseq.name_2=NM_080598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T344N;refseq.proteinCoordStr_2=p.T344N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=31606900;refseq.start_2=31606900;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr6 31607094 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.935T>C;refseq.codingCoordStr_2=c.935T>C;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=31607094;refseq.end_2=31607094;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1566;refseq.mrnaCoord_2=1436;refseq.name2_1=BAT1;refseq.name2_2=BAT1;refseq.name_1=NM_004640;refseq.name_2=NM_080598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F312S;refseq.proteinCoordStr_2=p.F312S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=31607094;refseq.start_2=31607094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr6 31612438 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.434T>G;refseq.codingCoordStr_2=c.434T>G;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=31612438;refseq.end_2=31612438;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=935;refseq.name2_1=BAT1;refseq.name2_2=BAT1;refseq.name_1=NM_004640;refseq.name_2=NM_080598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V145G;refseq.proteinCoordStr_2=p.V145G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=31612438;refseq.start_2=31612438;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr6 31614603 . T C 282.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.84;MQ0=0;OQ=18675.80;QD=43.03;RankSumP=1.00000;SB=-5371.14;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.348A>G;refseq.codingCoordStr_2=c.348A>G;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.end_1=31614603;refseq.end_2=31614603;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=979;refseq.mrnaCoord_2=849;refseq.name2_1=BAT1;refseq.name2_2=BAT1;refseq.name_1=NM_004640;refseq.name_2=NM_080598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V116V;refseq.proteinCoordStr_2=p.V116V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=31614603;refseq.start_2=31614603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr6 31633891 . C T 424.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.46;MQ0=0;OQ=3720.54;QD=38.36;RankSumP=1.00000;SB=-1258.61;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.625C>T;refseq.codingCoordStr_2=c.601C>T;refseq.codingCoordStr_3=c.556C>T;refseq.codingCoordStr_4=c.670C>T;refseq.codonCoord_1=209;refseq.codonCoord_2=201;refseq.codonCoord_3=186;refseq.codonCoord_4=224;refseq.end_1=31633891;refseq.end_2=31633891;refseq.end_3=31633891;refseq.end_4=31633891;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=744;refseq.mrnaCoord_2=736;refseq.mrnaCoord_3=691;refseq.mrnaCoord_4=789;refseq.name2_1=NFKBIL1;refseq.name2_2=NFKBIL1;refseq.name2_3=NFKBIL1;refseq.name2_4=NFKBIL1;refseq.name_1=NM_001144961;refseq.name_2=NM_001144962;refseq.name_3=NM_001144963;refseq.name_4=NM_005007;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R209C;refseq.proteinCoordStr_2=p.R201C;refseq.proteinCoordStr_3=p.R186C;refseq.proteinCoordStr_4=p.R224C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.spliceDist_3=114;refseq.spliceDist_4=114;refseq.start_1=31633891;refseq.start_2=31633891;refseq.start_3=31633891;refseq.start_4=31633891;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=Intersection GT 1/1 chr6 31633952 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=97.94;MQ0=0;OQ=869.16;QD=23.49;RankSumP=0.392346;SB=-353.91;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.686G>A;refseq.codingCoordStr_2=c.662G>A;refseq.codingCoordStr_3=c.617G>A;refseq.codingCoordStr_4=c.731G>A;refseq.codonCoord_1=229;refseq.codonCoord_2=221;refseq.codonCoord_3=206;refseq.codonCoord_4=244;refseq.end_1=31633952;refseq.end_2=31633952;refseq.end_3=31633952;refseq.end_4=31633952;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=805;refseq.mrnaCoord_2=797;refseq.mrnaCoord_3=752;refseq.mrnaCoord_4=850;refseq.name2_1=NFKBIL1;refseq.name2_2=NFKBIL1;refseq.name2_3=NFKBIL1;refseq.name2_4=NFKBIL1;refseq.name_1=NM_001144961;refseq.name_2=NM_001144962;refseq.name_3=NM_001144963;refseq.name_4=NM_005007;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R229Q;refseq.proteinCoordStr_2=p.R221Q;refseq.proteinCoordStr_3=p.R206Q;refseq.proteinCoordStr_4=p.R244Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.spliceDist_3=175;refseq.spliceDist_4=175;refseq.start_1=31633952;refseq.start_2=31633952;refseq.start_3=31633952;refseq.start_4=31633952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/0 chr6 31648535 . T C 262.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=15.62;MQ=97.83;MQ0=0;OQ=6532.61;QD=16.62;RankSumP=0.0879068;SB=-2023.83;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.37T>C;refseq.codingCoordStr_2=c.37T>C;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=31648535;refseq.end_2=31648535;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=177;refseq.mrnaCoord_2=250;refseq.name2_1=LTA;refseq.name2_2=LTA;refseq.name_1=NM_000595;refseq.name_2=NM_001159740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C13R;refseq.proteinCoordStr_2=p.C13R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=31648535;refseq.start_2=31648535;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr6 31648763 . C A 105.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=99.00;MQ0=0;OQ=1201.54;QD=14.65;RankSumP=0.456966;SB=-454.11;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.179C>A;refseq.codingCoordStr_2=c.179C>A;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.end_1=31648763;refseq.end_2=31648763;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=319;refseq.mrnaCoord_2=392;refseq.name2_1=LTA;refseq.name2_2=LTA;refseq.name_1=NM_000595;refseq.name_2=NM_001159740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T60N;refseq.proteinCoordStr_2=p.T60N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=31648763;refseq.start_2=31648763;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr6 31665549 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.377T>G;refseq.codingCoordStr_2=c.377T>G;refseq.codingCoordStr_3=c.377T>G;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.codonCoord_3=126;refseq.end_1=31665549;refseq.end_2=31665549;refseq.end_3=31665549;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=641;refseq.mrnaCoord_2=641;refseq.mrnaCoord_3=641;refseq.name2_1=NCR3;refseq.name2_2=NCR3;refseq.name2_3=NCR3;refseq.name_1=NM_001145466;refseq.name_2=NM_001145467;refseq.name_3=NM_147130;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V126G;refseq.proteinCoordStr_2=p.V126G;refseq.proteinCoordStr_3=p.V126G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.start_1=31665549;refseq.start_2=31665549;refseq.start_3=31665549;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr6 31698877 . C T 294.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.60;MQ0=0;OQ=2794.56;QD=19.41;RankSumP=0.248157;SB=-1027.54;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.end_1=31699477;refseq.end_2=31698877;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=43;refseq.name2_1=BAT2;refseq.name2_2=SNORA38;refseq.name_1=NM_080686;refseq.name_2=NR_002971;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=43;refseq.start_1=31698668;refseq.start_2=31698877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr6 31702607 . T A 357.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1416.73;QD=39.35;RankSumP=1.00000;SB=-471.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1062T>A;refseq.codonCoord=354;refseq.end=31702607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G354G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-12;refseq.start=31702607;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr6 31703861 . C A 220.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.50;MQ0=0;OQ=4422.32;QD=34.82;RankSumP=1.00000;SB=-974.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1631C>A;refseq.codonCoord=544;refseq.end=31703861;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1880;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T544K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-135;refseq.start=31703861;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr6 31706468 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=193;Dels=0.00;HRun=2;HaplotypeScore=44.31;MQ=97.58;MQ0=0;OQ=2163.02;QD=11.21;RankSumP=0.0927676;SB=-989.29;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2376A>G;refseq.codonCoord=792;refseq.end=31706468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V792V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-90;refseq.start=31706468;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr6 31709323 . T C 224.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.68;MQ0=0;OQ=2507.86;QD=35.32;RankSumP=1.00000;SB=-1116.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4508T>C;refseq.codonCoord=1503;refseq.end=31709323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4757;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1503P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-81;refseq.start=31709323;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr6 31710946 . G A 323.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.35;MQ0=0;OQ=5128.66;QD=19.35;RankSumP=0.406697;SB=-1272.75;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5219G>A;refseq.codonCoord=1740;refseq.end=31710946;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5468;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1740H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=59;refseq.start=31710946;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 31711749 . A G 246.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.69;MQ0=0;OQ=5321.91;QD=19.42;RankSumP=0.411041;SB=-1534.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5568A>G;refseq.codonCoord=1856;refseq.end=31711749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5817;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1856Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=27;refseq.start=31711749;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr6 31711989 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=1.81;MQ=99.00;MQ0=0;OQ=814.83;QD=14.82;RankSumP=0.262591;SB=-282.08;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5649C>G;refseq.codonCoord=1883;refseq.end=31711989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5898;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1883P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=25;refseq.start=31711989;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 31712023 . T G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2640.97;QD=37.73;RankSumP=1.00000;SB=-1313.69;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5683T>G;refseq.codonCoord=1895;refseq.end=31712023;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5932;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1895V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=59;refseq.start=31712023;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr6 31712570 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=98.35;MQ0=0;OQ=2626.93;QD=19.04;RankSumP=0.0895545;SB=-407.35;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.6016C>T;refseq.codonCoord=2006;refseq.end=31712570;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6265;refseq.name=NM_080686;refseq.name2=BAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2006S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=82;refseq.start=31712570;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr6 31717623 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.2306T>C;refseq.codingCoordStr_2=c.2324T>C;refseq.codingCoordStr_3=c.2306T>C;refseq.codingCoordStr_4=c.2306T>C;refseq.codonCoord_1=769;refseq.codonCoord_2=775;refseq.codonCoord_3=769;refseq.codonCoord_4=769;refseq.end_1=31717623;refseq.end_2=31717623;refseq.end_3=31717623;refseq.end_4=31717623;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2466;refseq.mrnaCoord_2=2638;refseq.mrnaCoord_3=2596;refseq.mrnaCoord_4=2620;refseq.name2_1=BAT3;refseq.name2_2=BAT3;refseq.name2_3=BAT3;refseq.name2_4=BAT3;refseq.name_1=NM_001098534;refseq.name_2=NM_004639;refseq.name_3=NM_080702;refseq.name_4=NM_080703;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F769S;refseq.proteinCoordStr_2=p.F775S;refseq.proteinCoordStr_3=p.F769S;refseq.proteinCoordStr_4=p.F769S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.spliceDist_3=79;refseq.spliceDist_4=79;refseq.start_1=31717623;refseq.start_2=31717623;refseq.start_3=31717623;refseq.start_4=31717623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 0/1 chr6 31718665 . A G 102.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=97.28;MQ0=0;OQ=826.61;QD=15.90;RankSumP=0.0555791;SB=-370.43;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1855T>C;refseq.codingCoordStr_2=c.1873T>C;refseq.codingCoordStr_3=c.1855T>C;refseq.codingCoordStr_4=c.1855T>C;refseq.codonCoord_1=619;refseq.codonCoord_2=625;refseq.codonCoord_3=619;refseq.codonCoord_4=619;refseq.end_1=31718665;refseq.end_2=31718665;refseq.end_3=31718665;refseq.end_4=31718665;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2015;refseq.mrnaCoord_2=2187;refseq.mrnaCoord_3=2145;refseq.mrnaCoord_4=2169;refseq.name2_1=BAT3;refseq.name2_2=BAT3;refseq.name2_3=BAT3;refseq.name2_4=BAT3;refseq.name_1=NM_001098534;refseq.name_2=NM_004639;refseq.name_3=NM_080702;refseq.name_4=NM_080703;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S619P;refseq.proteinCoordStr_2=p.S625P;refseq.proteinCoordStr_3=p.S619P;refseq.proteinCoordStr_4=p.S619P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.spliceDist_4=-81;refseq.start_1=31718665;refseq.start_2=31718665;refseq.start_3=31718665;refseq.start_4=31718665;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 0/1 chr6 31724485 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.500T>G;refseq.codingCoordStr_2=c.500T>G;refseq.codingCoordStr_3=c.500T>G;refseq.codingCoordStr_4=c.500T>G;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=167;refseq.codonCoord_4=167;refseq.end_1=31724485;refseq.end_2=31724485;refseq.end_3=31724485;refseq.end_4=31724485;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=814;refseq.mrnaCoord_3=790;refseq.mrnaCoord_4=814;refseq.name2_1=BAT3;refseq.name2_2=BAT3;refseq.name2_3=BAT3;refseq.name2_4=BAT3;refseq.name_1=NM_001098534;refseq.name_2=NM_004639;refseq.name_3=NM_080702;refseq.name_4=NM_080703;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V167G;refseq.proteinCoordStr_2=p.V167G;refseq.proteinCoordStr_3=p.V167G;refseq.proteinCoordStr_4=p.V167G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.start_1=31724485;refseq.start_2=31724485;refseq.start_3=31724485;refseq.start_4=31724485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr6 31735502 . C T 274.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.77;MQ0=0;OQ=7005.20;QD=41.21;RankSumP=1.00000;SB=-3249.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.202G>A;refseq.codonCoord=68;refseq.end=31735502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_021184;refseq.name2=C6orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.G68R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1027;refseq.start=31735502;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr6 31739699 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=4.31635e-08;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.536A>G;refseq.codonCoord=179;refseq.end=31739699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_033177;refseq.name2=BAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D179G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-91;refseq.start=31739699;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr6 31740113 . C A 210.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=98.92;MQ0=0;OQ=2318.74;QD=14.05;RankSumP=0.0546321;SB=-741.77;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.122G>T;refseq.codonCoord=41;refseq.end=31740113;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_033177;refseq.name2=BAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R41L;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=221;refseq.start=31740113;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr6 31756111 . G C 89 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=3.53781e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.19C>G;refseq.codonCoord=7;refseq.end=31756111;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=19;refseq.name=NM_025262;refseq.name2=LY6G5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P7A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=19;refseq.start=31756111;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr6 31756112 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=1.03946e-05;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.18C>G;refseq.codonCoord=6;refseq.end=31756112;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=18;refseq.name=NM_025262;refseq.name2=LY6G5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G6G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=18;refseq.start=31756112;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 31765392 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=1.77;MQ=99.00;MQ0=0;OQ=2545.51;QD=35.85;RankSumP=1.00000;SB=-434.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1026A>G;refseq.codonCoord=342;refseq.end=31765392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_021160;refseq.name2=BAT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L342L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-56;refseq.start=31765392;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr6 31783821 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.577A>G;refseq.codonCoord=193;refseq.end=31783821;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_001003693;refseq.name2=LY6G6F;refseq.positionType=CDS;refseq.proteinCoordStr=p.R193G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-70;refseq.start=31783821;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 31803347 . G A 114.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.94;MQ0=0;OQ=2367.53;QD=19.90;RankSumP=0.113338;SB=-291.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.693C>T;refseq.codonCoord=231;refseq.end=31803347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_013974;refseq.name2=DDAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P231P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-49;refseq.start=31803347;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr6 31835876 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=3;HaplotypeScore=7.73;MQ=98.79;MQ0=0;OQ=5657.74;QD=20.35;RankSumP=0.349099;SB=-2273.86;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1716C>T;refseq.codingCoordStr_2=c.1767C>T;refseq.codingCoordStr_3=c.1716C>T;refseq.codingCoordStr_4=c.1716C>T;refseq.codonCoord_1=572;refseq.codonCoord_2=589;refseq.codonCoord_3=572;refseq.codonCoord_4=572;refseq.end_1=31835876;refseq.end_2=31835876;refseq.end_3=31835876;refseq.end_4=31835876;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2002;refseq.mrnaCoord_2=1895;refseq.mrnaCoord_3=1844;refseq.mrnaCoord_4=1844;refseq.name2_1=MSH5;refseq.name2_2=MSH5;refseq.name2_3=MSH5;refseq.name2_4=MSH5;refseq.name_1=NM_002441;refseq.name_2=NM_025259;refseq.name_3=NM_172165;refseq.name_4=NM_172166;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T572T;refseq.proteinCoordStr_2=p.T589T;refseq.proteinCoordStr_3=p.T572T;refseq.proteinCoordStr_4=p.T572T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=31835876;refseq.start_2=31835876;refseq.start_3=31835876;refseq.start_4=31835876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 0/1 chr6 31837338 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=12.87;MQ=96.89;MQ0=0;OQ=883.05;QD=7.06;RankSumP=0.0667436;SB=-250.90;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.2148A>G;refseq.codingCoordStr_2=c.2202A>G;refseq.codingCoordStr_3=c.2151A>G;refseq.codingCoordStr_4=c.2148A>G;refseq.codonCoord_1=716;refseq.codonCoord_2=734;refseq.codonCoord_3=717;refseq.codonCoord_4=716;refseq.end_1=31837338;refseq.end_2=31837338;refseq.end_3=31837338;refseq.end_4=31837338;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2434;refseq.mrnaCoord_2=2330;refseq.mrnaCoord_3=2279;refseq.mrnaCoord_4=2276;refseq.name2_1=MSH5;refseq.name2_2=MSH5;refseq.name2_3=MSH5;refseq.name2_4=MSH5;refseq.name_1=NM_002441;refseq.name_2=NM_025259;refseq.name_3=NM_172165;refseq.name_4=NM_172166;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q716Q;refseq.proteinCoordStr_2=p.Q734Q;refseq.proteinCoordStr_3=p.Q717Q;refseq.proteinCoordStr_4=p.Q716Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.start_1=31837338;refseq.start_2=31837338;refseq.start_3=31837338;refseq.start_4=31837338;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 0/1 chr6 31841445 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=234.66;QD=11.17;RankSumP=0.656934;SB=-0.97;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2581A>G;refseq.codonCoord=861;refseq.end=31841445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2819;refseq.name=NM_025258;refseq.name2=C6orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T861A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=82;refseq.start=31841445;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 31842324 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=97.75;MQ0=0;OQ=658.58;QD=13.72;RankSumP=0.693402;SB=-296.31;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2079C>A;refseq.codonCoord=693;refseq.end=31842324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2317;refseq.name=NM_025258;refseq.name2=C6orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.S693S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-106;refseq.start=31842324;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr6 31870822 . G C 77.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=203.26;QD=22.58;RankSumP=0.777778;SB=-55.46;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.152C>G;refseq.codonCoord=51;refseq.end=31870822;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_006295;refseq.name2=VARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P51R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=185;refseq.start=31870822;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr6 31870823 . G T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=139.59;QD=15.51;RankSumP=0.625000;SB=-49.94;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.151C>A;refseq.codonCoord=51;refseq.end=31870823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_006295;refseq.name2=VARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P51T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=184;refseq.start=31870823;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 31885925 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=394;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=98.60;MQ0=0;OQ=7296.33;QD=18.52;RankSumP=0.419080;SB=-3095.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1804G>A;refseq.codonCoord=602;refseq.end=31885925;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_005527;refseq.name2=HSPA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E602K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-551;refseq.start=31885925;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 31886251 . G A 247.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.73;MQ0=0;OQ=18942.98;QD=41.27;RankSumP=1.00000;SB=-4502.76;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1478C>T;refseq.codonCoord=493;refseq.end=31886251;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1661;refseq.name=NM_005527;refseq.name2=HSPA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T493M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-877;refseq.start=31886251;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr6 31891734 rs1043620 T C 43.84 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=775;Dels=0.00;HRun=0;HaplotypeScore=23.36;MQ=5.50;MQ0=772;QD=0.06;SB=-10.00;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.222T>C;refseq.codonCoord=74;refseq.end=31891734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_005345;refseq.name2=HSPA1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I74I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=465;refseq.start=31891734;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,773:2:-7.79,-0.60,-0.00:6.02 chr6 31893206 . C T 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.633333;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1694C>T;refseq.codonCoord=565;refseq.end=31893206;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1937;refseq.name=NM_005345;refseq.name2=HSPA1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A565V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-493;refseq.start=31893206;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr6 31893207 . G C 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=272;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=23.24;MQ0=86;OQ=8044.13;QD=29.57;RankSumP=1.00000;SB=-3603.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1695G>C;refseq.codonCoord=565;refseq.end=31893207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1938;refseq.name=NM_005345;refseq.name2=HSPA1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A565A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-492;refseq.start=31893207;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr6 31903928 rs28491949 T C 42.83 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=753;Dels=0.00;HRun=0;HaplotypeScore=31.74;MQ=5.10;MQ0=751;QD=0.06;SB=-10.00;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.222T>C;refseq.codonCoord=74;refseq.end=31903928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_005346;refseq.name2=HSPA1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I74I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=438;refseq.start=31903928;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,751:2:-7.69,-0.60,-0.00:6.02 chr6 31905566 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=2;HaplotypeScore=7.97;MQ=63.55;MQ0=25;OQ=1375.84;QD=8.00;RankSumP=0.296908;SB=-97.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1860C>G;refseq.codonCoord=620;refseq.end=31905566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2076;refseq.name=NM_005346;refseq.name2=HSPA1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G620G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-445;refseq.start=31905566;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr6 31911042 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=2;RankSumP=0.381705;SecondBestBaseQ=12;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.end_1=31911156;refseq.end_2=31911156;refseq.end_3=31911042;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=24;refseq.name2_1=C6orf48;refseq.name2_2=C6orf48;refseq.name2_3=SNORD48;refseq.name_1=NM_001040437;refseq.name_2=NM_001040438;refseq.name_3=NR_002745;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=24;refseq.start_1=31910967;refseq.start_2=31910967;refseq.start_3=31911042;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 0/1 chr6 31911043 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=1;RankSumP=0.0676573;SecondBestBaseQ=20;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.end_1=31911156;refseq.end_2=31911156;refseq.end_3=31911043;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=25;refseq.name2_1=C6orf48;refseq.name2_2=C6orf48;refseq.name2_3=SNORD48;refseq.name_1=NM_001040437;refseq.name_2=NM_001040438;refseq.name_3=NR_002745;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=25;refseq.start_1=31910967;refseq.start_2=31910967;refseq.start_3=31911043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=soap GT 1/0 chr6 31911044 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00193422;SecondBestBaseQ=5;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.end_1=31911156;refseq.end_2=31911156;refseq.end_3=31911044;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=26;refseq.name2_1=C6orf48;refseq.name2_2=C6orf48;refseq.name2_3=SNORD48;refseq.name_1=NM_001040437;refseq.name_2=NM_001040438;refseq.name_3=NR_002745;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=26;refseq.start_1=31910967;refseq.start_2=31910967;refseq.start_3=31911044;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr6 31937860 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.247A>C;refseq.codonCoord=83;refseq.end=31937860;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_000434;refseq.name2=NEU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T83P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=88;refseq.start=31937860;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr6 31946420 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=99.00;MQ0=0;OQ=1345.51;QD=10.04;RankSumP=0.215298;SB=-506.86;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.976A>G;refseq.codonCoord=326;refseq.end=31946420;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1042;refseq.name=NM_025257;refseq.name2=SLC44A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M326V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=39;refseq.start=31946420;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 31946692 . G A 316.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=7.68;MQ=98.85;MQ0=0;OQ=2203.92;QD=18.06;RankSumP=0.275720;SB=-969.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.813C>T;refseq.codonCoord=271;refseq.end=31946692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_025257;refseq.name2=SLC44A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y271Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=112;refseq.start=31946692;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 31947288 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=134.27;QD=12.21;RankSumP=0.345238;SB=-48.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.559G>A;refseq.codonCoord=187;refseq.end=31947288;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_025257;refseq.name2=SLC44A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V187I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=30;refseq.start=31947288;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr6 31947310 . C T 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=71.99;QD=10.28;RankSumP=0.750000;SB=-43.54;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.537G>A;refseq.codonCoord=179;refseq.end=31947310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=603;refseq.name=NM_025257;refseq.name2=SLC44A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G179G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=31947310;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr6 31950577 . T A 284.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.76;MQ0=0;OQ=3145.40;QD=19.30;RankSumP=0.486599;SB=-960.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.368A>T;refseq.codonCoord=123;refseq.end=31950577;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_025257;refseq.name2=SLC44A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D123V;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=26;refseq.start=31950577;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr6 31955974 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3499A>C;refseq.codingCoordStr_2=c.3397A>C;refseq.codonCoord_1=1167;refseq.codonCoord_2=1133;refseq.end_1=31955974;refseq.end_2=31955974;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3509;refseq.mrnaCoord_2=3407;refseq.name2_1=EHMT2;refseq.name2_2=EHMT2;refseq.name_1=NM_006709;refseq.name_2=NM_025256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1167P;refseq.proteinCoordStr_2=p.T1133P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=31955974;refseq.start_2=31955974;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 31968316 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=5.96;MQ=98.90;MQ0=0;OQ=1010.04;QD=12.79;RankSumP=0.345818;SB=-391.27;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.711A>G;refseq.codingCoordStr_2=c.711A>G;refseq.codonCoord_1=237;refseq.codonCoord_2=237;refseq.end_1=31968316;refseq.end_2=31968316;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=721;refseq.name2_1=EHMT2;refseq.name2_2=EHMT2;refseq.name_1=NM_006709;refseq.name_2=NM_025256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S237S;refseq.proteinCoordStr_2=p.S237S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=31968316;refseq.start_2=31968316;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr6 31972526 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=7.64;MQ=98.29;MQ0=0;OQ=1636.86;QD=13.99;RankSumP=0.231852;SB=-291.22;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.164C>A;refseq.codingCoordStr_2=c.164C>A;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.end_1=31972526;refseq.end_2=31972526;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=174;refseq.mrnaCoord_2=174;refseq.name2_1=EHMT2;refseq.name2_2=EHMT2;refseq.name_1=NM_006709;refseq.name_2=NM_025256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T55N;refseq.proteinCoordStr_2=p.T55N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=31972526;refseq.start_2=31972526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr6 32022914 . A G 314.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=4.10;MQ=98.44;MQ0=0;OQ=3982.13;QD=39.04;RankSumP=1.00000;SB=-1486.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.450A>G;refseq.codonCoord=150;refseq.end=32022914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_001710;refseq.name2=CFB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R150R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-35;refseq.start=32022914;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 32023152 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.533G>C;refseq.codonCoord=178;refseq.end=32023152;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_001710;refseq.name2=CFB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G178A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=49;refseq.start=32023152;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 32036993 . A C 190.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.59;MQ0=0;OQ=2054.45;QD=13.70;RankSumP=0.445783;SB=-918.58;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.640A>C;refseq.codonCoord=214;refseq.end=32036993;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_006929;refseq.name2=SKIV2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.M214L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=42;refseq.start=32036993;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 32043554 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=4.12564e-08;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2667G>C;refseq.codonCoord=889;refseq.end=32043554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3056;refseq.name=NM_006929;refseq.name2=SKIV2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G889G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-65;refseq.start=32043554;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr6 32044647 . T C 142.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=97.55;MQ0=0;OQ=992.59;QD=13.79;RankSumP=0.0604023;SB=-226.49;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3201T>C;refseq.codonCoord=1067;refseq.end=32044647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3590;refseq.name=NM_006929;refseq.name2=SKIV2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1067Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=21;refseq.start=32044647;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr6 32047816 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.64T>C;refseq.codingCoordStr_3=c.-138A>G;refseq.codingCoordStr_4=c.64T>C;refseq.codonCoord_2=22;refseq.codonCoord_4=22;refseq.end_1=32047816;refseq.end_2=32047816;refseq.end_3=32047816;refseq.end_4=32047816;refseq.frame_2=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=292;refseq.mrnaCoord_2=192;refseq.mrnaCoord_3=196;refseq.mrnaCoord_4=192;refseq.name2_1=STK19;refseq.name2_2=STK19;refseq.name2_3=DOM3Z;refseq.name2_4=STK19;refseq.name_1=NR_026717;refseq.name_2=NM_004197;refseq.name_3=NM_005510;refseq.name_4=NM_032454;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S22P;refseq.proteinCoordStr_4=p.S22P;refseq.referenceAA_2=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=192;refseq.spliceDist_2=-157;refseq.spliceDist_3=-132;refseq.spliceDist_4=-157;refseq.start_1=32047816;refseq.start_2=32047816;refseq.start_3=32047816;refseq.start_4=32047816;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr6 32047877 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=114;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=95.00;MQ0=0;OQ=1806.12;QD=15.84;RankSumP=1.08399e-05;SB=-169.68;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.125C>T;refseq.codingCoordStr_3=c.-199G>A;refseq.codingCoordStr_4=c.125C>T;refseq.codonCoord_2=42;refseq.codonCoord_4=42;refseq.end_1=32047877;refseq.end_2=32047877;refseq.end_3=32047877;refseq.end_4=32047877;refseq.frame_2=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=353;refseq.mrnaCoord_2=253;refseq.mrnaCoord_3=135;refseq.mrnaCoord_4=253;refseq.name2_1=STK19;refseq.name2_2=STK19;refseq.name2_3=DOM3Z;refseq.name2_4=STK19;refseq.name_1=NR_026717;refseq.name_2=NM_004197;refseq.name_3=NM_005510;refseq.name_4=NM_032454;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A42V;refseq.proteinCoordStr_4=p.A42V;refseq.referenceAA_2=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=253;refseq.spliceDist_2=-96;refseq.spliceDist_3=135;refseq.spliceDist_4=-96;refseq.start_1=32047877;refseq.start_2=32047877;refseq.start_3=32047877;refseq.start_4=32047877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_2=Val;refseq.variantAA_4=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_4=GTC;set=filterInsoap-gatk GT 0/1 chr6 32105046 . T G 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=92.01;MQ0=0;OQ=124.75;QD=0.89;RankSumP=0.447675;SB=88.94;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3629T>G;refseq.codingCoordStr_2=c.3629T>G;refseq.codonCoord_1=1210;refseq.codonCoord_2=1210;refseq.end_1=32105046;refseq.end_2=32105046;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3680;refseq.mrnaCoord_2=3680;refseq.name2_1=C4B;refseq.name2_2=C4A;refseq.name_1=NM_001002029;refseq.name_2=NM_007293;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1210R;refseq.proteinCoordStr_2=p.L1210R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=32105046;refseq.start_2=32105046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=soap-filterIngatk GT 1/0 chr6 32105047 . C G 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=2.12;MQ=91.99;MQ0=0;OQ=416.19;QD=2.95;RankSumP=0.408971;SB=68.34;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3630C>G;refseq.codingCoordStr_2=c.3630C>G;refseq.codonCoord_1=1210;refseq.codonCoord_2=1210;refseq.end_1=32105047;refseq.end_2=32105047;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3681;refseq.mrnaCoord_2=3681;refseq.name2_1=C4B;refseq.name2_2=C4A;refseq.name_1=NM_001002029;refseq.name_2=NM_007293;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1210L;refseq.proteinCoordStr_2=p.L1210L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=32105047;refseq.start_2=32105047;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=soap-filterIngatk GT 1/0 chr6 32114296 . C T 26.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=31.22;MQ0=32;OQ=615.93;QD=12.32;RankSumP=1.00000;SB=-192.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.118C>T;refseq.codingCoordStr_2=c.118C>T;refseq.codonCoord_1=40;refseq.codonCoord_2=40;refseq.end_1=32114296;refseq.end_2=32114296;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=236;refseq.mrnaCoord_2=236;refseq.name2_1=CYP21A2;refseq.name2_2=CYP21A2;refseq.name_1=NM_000500;refseq.name_2=NM_001128590;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L40L;refseq.proteinCoordStr_2=p.L40L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.start_1=32114296;refseq.start_2=32114296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=filterInsoap-gatk GT 1/1 chr6 32114316 . C A 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=24.26;MQ0=54;OQ=302.88;QD=4.66;RankSumP=1.00000;SB=-171.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.138C>A;refseq.codingCoordStr_2=c.138C>A;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=32114316;refseq.end_2=32114316;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=256;refseq.mrnaCoord_2=256;refseq.name2_1=CYP21A2;refseq.name2_2=CYP21A2;refseq.name_1=NM_000500;refseq.name_2=NM_001128590;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P46P;refseq.proteinCoordStr_2=p.P46P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=32114316;refseq.start_2=32114316;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=filterInsoap-gatk GT 1/1 chr6 32114865 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.73;MQ0=0;OQ=691.58;QD=18.69;RankSumP=0.746100;SB=-312.30;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.308G>A;refseq.codingCoordStr_2=c.218G>A;refseq.codonCoord_1=103;refseq.codonCoord_2=73;refseq.end_1=32114865;refseq.end_2=32114865;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=426;refseq.mrnaCoord_2=336;refseq.name2_1=CYP21A2;refseq.name2_2=CYP21A2;refseq.name_1=NM_000500;refseq.name_2=NM_001128590;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R103K;refseq.proteinCoordStr_2=p.R73K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=32114865;refseq.start_2=32114865;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr6 32116430 rs6469 C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=10.35;MQ0=175;OQ=121.31;QD=0.66;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1125C>T;refseq.codingCoordStr_2=c.1035C>T;refseq.codonCoord_1=375;refseq.codonCoord_2=345;refseq.end_1=32116430;refseq.end_2=32116430;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1243;refseq.mrnaCoord_2=1153;refseq.name2_1=CYP21A2;refseq.name2_2=CYP21A2;refseq.name_1=NM_000500;refseq.name_2=NM_001128590;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S375S;refseq.proteinCoordStr_2=p.S345S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=32116430;refseq.start_2=32116430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:121,62:7:-17.52,-2.11,-12.11:99 chr6 32118251 . T A 151.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=59.06;MQ0=6;OQ=1898.38;QD=12.66;RankSumP=0.393681;SB=-777.20;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.12164A>T;refseq.codingCoordStr_2=c.1457A>T;refseq.codonCoord_1=4055;refseq.codonCoord_2=486;refseq.end_1=32118251;refseq.end_2=32118251;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12366;refseq.mrnaCoord_2=2366;refseq.name2_1=TNXB;refseq.name2_2=TNXB;refseq.name_1=NM_019105;refseq.name_2=NM_032470;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N4055I;refseq.proteinCoordStr_2=p.N486I;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=32118251;refseq.start_2=32118251;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr6 32196832 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.69;MQ0=0;OQ=408.46;QD=13.18;RankSumP=0.579075;SB=-39.43;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.603C>G;refseq.codingCoordStr_2=c.612C>G;refseq.codonCoord_1=201;refseq.codonCoord_2=204;refseq.end_1=32196832;refseq.end_2=32196832;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=636;refseq.mrnaCoord_2=645;refseq.name2_1=ATF6B;refseq.name2_2=ATF6B;refseq.name_1=NM_001136153;refseq.name_2=NM_004381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S201S;refseq.proteinCoordStr_2=p.S204S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=32196832;refseq.start_2=32196832;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr6 32226504 . T C 26.73 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=13;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=96.53;MQ0=0;QD=2.06;RankSumP=0.609091;SB=-33.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=32226504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_030651;refseq.name2=PRRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L59L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=158;refseq.start=32226504;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr6 32230364 . C G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=311;Dels=0.00;HRun=3;HaplotypeScore=22.16;MQ=98.00;MQ0=0;OQ=12060.65;QD=38.78;RankSumP=1.00000;SB=-4220.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.15C>G;refseq.codingCoordStr_2=c.33C>G;refseq.codonCoord_1=5;refseq.codonCoord_2=11;refseq.end_1=32230364;refseq.end_2=32230364;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=583;refseq.mrnaCoord_2=136;refseq.name2_1=PPT2;refseq.name2_2=PPT2;refseq.name_1=NM_005155;refseq.name_2=NM_138717;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C5W;refseq.proteinCoordStr_2=p.C11W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=32230364;refseq.start_2=32230364;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 1/1 chr6 32230450 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=10.87;MQ=97.91;MQ0=0;OQ=1064.39;QD=9.34;RankSumP=0.257554;SB=-306.98;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.101C>A;refseq.codingCoordStr_2=c.119C>A;refseq.codonCoord_1=34;refseq.codonCoord_2=40;refseq.end_1=32230450;refseq.end_2=32230450;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=222;refseq.name2_1=PPT2;refseq.name2_2=PPT2;refseq.name_1=NM_005155;refseq.name_2=NM_138717;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A34E;refseq.proteinCoordStr_2=p.A40E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=32230450;refseq.start_2=32230450;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr6 32231649 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.457T>G;refseq.codingCoordStr_2=c.475T>G;refseq.codonCoord_1=153;refseq.codonCoord_2=159;refseq.end_1=32231649;refseq.end_2=32231649;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1025;refseq.mrnaCoord_2=578;refseq.name2_1=PPT2;refseq.name2_2=PPT2;refseq.name_1=NM_005155;refseq.name_2=NM_138717;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F153V;refseq.proteinCoordStr_2=p.F159V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=32231649;refseq.start_2=32231649;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr6 32233623 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=154;Dels=0.00;HRun=0;HaplotypeScore=19.10;MQ=98.43;MQ0=0;OQ=1771.21;QD=11.50;RankSumP=0.114717;SB=-561.63;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.654C>T;refseq.codingCoordStr_2=c.672C>T;refseq.codonCoord_1=218;refseq.codonCoord_2=224;refseq.end_1=32233623;refseq.end_2=32233623;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1222;refseq.mrnaCoord_2=775;refseq.name2_1=PPT2;refseq.name2_2=PPT2;refseq.name_1=NM_005155;refseq.name_2=NM_138717;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G218G;refseq.proteinCoordStr_2=p.G224G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=32233623;refseq.start_2=32233623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr6 32242488 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=7.52;MQ=97.56;MQ0=0;OQ=990.15;QD=12.22;RankSumP=0.00577948;SB=-296.80;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.257G>A;refseq.codonCoord=86;refseq.end=32242488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_030652;refseq.name2=EGFL8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R86K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=33;refseq.start=32242488;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 1/0 chr6 32255674 . G A 304.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.30;MQ0=0;OQ=4293.50;QD=19.17;RankSumP=0.129550;SB=-1188.57;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.315G>A;refseq.codonCoord_2=105;refseq.end_1=32255674;refseq.end_2=32255674;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=442;refseq.name2_1=RNF5P1;refseq.name2_2=RNF5;refseq.name_1=NR_003129;refseq.name_2=NM_006913;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P105P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=32255674;refseq.start_2=32255674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr6 32256009 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=92.49;MQ0=1;OQ=332.91;QD=10.40;RankSumP=0.222242;SB=-93.78;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_2=157;refseq.end_1=32256009;refseq.end_2=32256009;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=528;refseq.mrnaCoord_2=598;refseq.name2_1=RNF5P1;refseq.name2_2=RNF5;refseq.name_1=NR_003129;refseq.name_2=NM_006913;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P157P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=32256009;refseq.start_2=32256009;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr6 32259702 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.93C>G;refseq.codingCoordStr_2=c.93C>G;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=32259702;refseq.end_2=32259702;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=117;refseq.mrnaCoord_2=117;refseq.name2_1=AGER;refseq.name2_2=AGER;refseq.name_1=NM_001136;refseq.name_2=NM_172197;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G31G;refseq.proteinCoordStr_2=p.G31G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=32259702;refseq.start_2=32259702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr6 32259972 . A T 210.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.73;MQ0=0;OQ=1391.41;QD=32.36;RankSumP=1.00000;SB=-469.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.6T>A;refseq.codingCoordStr_2=c.6T>A;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.end_1=32259972;refseq.end_2=32259972;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=30;refseq.mrnaCoord_2=30;refseq.name2_1=AGER;refseq.name2_2=AGER;refseq.name_1=NM_001136;refseq.name_2=NM_172197;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A2A;refseq.proteinCoordStr_2=p.A2A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=32259972;refseq.start_2=32259972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 32267934 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=17.01;MQ=96.44;MQ0=0;OQ=547.71;QD=9.78;RankSumP=0.248187;SB=-35.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.114A>G;refseq.codonCoord=38;refseq.end=32267934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_022107;refseq.name2=GPSM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P38P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-32;refseq.start=32267934;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 32271391 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5813C>G;refseq.codonCoord=1938;refseq.end=32271391;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5952;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1938G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=515;refseq.start=32271391;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr6 32276749 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=981.06;QD=16.08;RankSumP=0.597071;SB=-406.13;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4152C>A;refseq.codonCoord=1384;refseq.end=32276749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4291;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1384V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=13;refseq.start=32276749;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr6 32278225 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=99.00;MQ0=0;OQ=368.42;QD=16.02;RankSumP=0.672628;SB=-105.93;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3361G>A;refseq.codonCoord=1121;refseq.end=32278225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3500;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1121R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=130;refseq.start=32278225;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr6 32280043 . T G 313.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=6.07;MQ=98.01;MQ0=0;OQ=9001.39;QD=37.82;RankSumP=1.00000;SB=-3839.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2967A>C;refseq.codonCoord=989;refseq.end=32280043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3106;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G989G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=102;refseq.start=32280043;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr6 32296275 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=165;Dels=0.00;HRun=4;HaplotypeScore=13.83;MQ=98.04;MQ0=0;OQ=2896.67;QD=17.56;RankSumP=0.0124169;SB=-1286.80;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1044C>G;refseq.codonCoord=348;refseq.end=32296275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G348G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-116;refseq.start=32296275;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr6 32296361 . T C 233.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.29;MQ0=0;OQ=2781.21;QD=35.21;RankSumP=1.00000;SB=-1107.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.958A>G;refseq.codonCoord=320;refseq.end=32296361;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T320A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=36;refseq.start=32296361;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr6 32296538 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.895A>C;refseq.codonCoord=299;refseq.end=32296538;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T299P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-28;refseq.start=32296538;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 32296581 . C T 99.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=3.54;MQ=98.67;MQ0=0;OQ=1150.13;QD=12.50;RankSumP=0.0373595;SB=-592.06;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.852G>A;refseq.codonCoord=284;refseq.end=32296581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q284Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=53;refseq.start=32296581;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr6 32296618 . T C 128.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=1558.24;QD=15.43;RankSumP=0.0755047;SB=-696.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.815A>G;refseq.codonCoord=272;refseq.end=32296618;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D272G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=16;refseq.start=32296618;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr6 32296620 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=1443.93;QD=14.59;RankSumP=0.228025;SB=-551.87;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.813A>G;refseq.codonCoord=271;refseq.end=32296620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=952;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P271P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=14;refseq.start=32296620;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 32296904 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.628T>C;refseq.codonCoord=210;refseq.end=32296904;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S210P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-172;refseq.start=32296904;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 32296907 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.625A>C;refseq.codonCoord=209;refseq.end=32296907;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T209P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=174;refseq.start=32296907;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 32297010 . T C 311.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=8.54;MQ=98.33;MQ0=0;OQ=5375.59;QD=16.24;RankSumP=0.312103;SB=-2148.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.522A>G;refseq.codonCoord=174;refseq.end=32297010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T174T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=71;refseq.start=32297010;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr6 32298368 . T G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=97.28;MQ0=0;OQ=1718.96;QD=35.08;RankSumP=1.00000;SB=-733.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.349A>C;refseq.codonCoord=117;refseq.end=32298368;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K117Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-103;refseq.start=32298368;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr6 32298384 . A G 170.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.38;MQ0=0;OQ=782.63;QD=15.05;RankSumP=0.658299;SB=-386.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.333T>C;refseq.codonCoord=111;refseq.end=32298384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_004557;refseq.name2=NOTCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G111G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-119;refseq.start=32298384;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr6 32369230 . T G 118.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=568;Dels=0.00;HRun=0;HaplotypeScore=9.65;MQ=98.75;MQ0=0;OQ=11678.86;QD=20.56;RankSumP=0.286979;SB=-4806.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1198A>C;refseq.codonCoord=400;refseq.end=32369230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1371;refseq.name=NM_006781;refseq.name2=C6orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K400Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=561;refseq.start=32369230;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr6 32369485 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=517;Dels=0.00;HRun=0;HaplotypeScore=24.11;MQ=98.60;MQ0=0;OQ=20677.37;QD=39.99;RankSumP=1.00000;SB=-7416.43;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.943A>G;refseq.codonCoord=315;refseq.end=32369485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_006781;refseq.name2=C6orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I315V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=306;refseq.start=32369485;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr6 32407800 . G A 321.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=10.31;MQ=98.51;MQ0=0;OQ=7756.84;QD=21.19;RankSumP=0.222511;SB=-3049.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.482C>T;refseq.codonCoord=161;refseq.end=32407800;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_006781;refseq.name2=C6orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=32407800;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr6 32411670 . T A 247.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=3928.08;QD=20.46;RankSumP=0.433942;SB=-1525.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.448A>T;refseq.codonCoord=150;refseq.end=32411670;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_006781;refseq.name2=C6orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I150F;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=32411670;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr6 32445664 . A G 425.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.53;MQ0=0;OQ=4156.86;QD=38.49;RankSumP=1.00000;SB=-1644.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.88T>C;refseq.codonCoord=30;refseq.end=32445664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_006781;refseq.name2=C6orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C30R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-13;refseq.start=32445664;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr6 32470617 . G A 124.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=8.66;MQ=97.13;MQ0=0;OQ=2883.57;QD=13.86;RankSumP=0.0220810;SB=-1226.65;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1242C>T;refseq.codonCoord=414;refseq.end=32470617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H414H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-127;refseq.start=32470617;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 32470647 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=6.14;MQ=97.10;MQ0=0;OQ=2354.89;QD=13.01;RankSumP=0.0746196;SB=-615.71;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1212A>C;refseq.codonCoord=404;refseq.end=32470647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S404S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=134;refseq.start=32470647;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr6 32470680 rs41342846 T C 111.87 PASS AC=1;AF=0.50;AN=2;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=95.74;MQ0=0;OQ=1982.89;QD=15.37;SB=-447.19;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1179A>G;refseq.codonCoord=393;refseq.end=32470680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1179;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P393P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=101;refseq.start=32470680;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:70,59:122:-238.31,-36.74,-275.25:99 chr6 32470681 rs41521946 G T 47.11 PASS AC=1;AF=0.50;AN=2;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=96.08;MQ0=0;OQ=1793.84;QD=13.80;SB=-468.88;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1178C>A;refseq.codonCoord=393;refseq.end=32470681;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P393Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=100;refseq.start=32470681;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=gatk GT:AD:DP:GL:GQ 0/1:71,58:124:-220.00,-37.34,-274.68:99 chr6 32470719 . C T 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.02;MQ0=0;OQ=1396.74;QD=13.43;RankSumP=0.269948;SB=-439.85;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1140G>A;refseq.codonCoord=380;refseq.end=32470719;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1140;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M380I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=62;refseq.start=32470719;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr6 32470723 . G A 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.24;MQ0=0;OQ=1424.42;QD=14.10;RankSumP=0.0606064;SB=-468.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1136C>T;refseq.codonCoord=379;refseq.end=32470723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P379L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=58;refseq.start=32470723;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr6 32471794 . T C 127.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=9.04;MQ=98.91;MQ0=0;OQ=5077.10;QD=20.64;RankSumP=0.00739808;SB=-1069.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1078A>G;refseq.codonCoord=360;refseq.end=32471794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1078;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S360G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=32471794;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr6 32471933 . T C 268.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=16.15;MQ=98.54;MQ0=0;OQ=5084.25;QD=17.47;RankSumP=0.447622;SB=-1982.21;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.939A>G;refseq.codonCoord=313;refseq.end=32471933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_019602;refseq.name2=BTNL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V313V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-140;refseq.start=32471933;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 32518965 . A G 368.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.74;MQ0=0;OQ=9385.86;QD=37.25;RankSumP=1.00000;SB=-3737.48;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.354A>G;refseq.codonCoord=118;refseq.end=32518965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_019111;refseq.name2=HLA-DRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T118T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=26;refseq.start=32518965;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 32519013 . A C 322.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=98.90;MQ0=0;OQ=7964.03;QD=21.07;RankSumP=0.403685;SB=-2169.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.402A>C;refseq.codonCoord=134;refseq.end=32519013;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_019111;refseq.name2=HLA-DRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.I134I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=74;refseq.start=32519013;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 32519624 . T G 359.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.67;MQ0=0;OQ=6626.54;QD=18.67;RankSumP=0.351116;SB=-2036.24;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.724T>G;refseq.codonCoord=242;refseq.end=32519624;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=805;refseq.name=NM_019111;refseq.name2=HLA-DRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L242V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-53;refseq.start=32519624;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 32595153 . G A 181.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=27.19;MQ0=22;OQ=1220.02;QD=20.33;RankSumP=1.00000;SB=-454.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.624C>T;refseq.codonCoord=208;refseq.end=32595153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S208S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-29;refseq.start=32595153;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr6 32595174 rs1064683 G A 14.91 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.20;MQ0=22;QD=0.27;SB=-19.44;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.603C>T;refseq.codonCoord=201;refseq.end=32595174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T201T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-50;refseq.start=32595174;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:51,4:29:-13.49,-8.73,-110.60:47.60 chr6 32595192 . T C 15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.04;MQ0=22;OQ=170.94;QD=5.51;RankSumP=1.00000;SB=-50.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.585A>G;refseq.codonCoord=195;refseq.end=32595192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R195R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-68;refseq.start=32595192;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/1 chr6 32595207 . C T 39.47 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.25;MQ0=25;QD=1.36;SB=-6.99;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.570G>A;refseq.codonCoord=190;refseq.end=32595207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L190L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-83;refseq.start=32595207;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:23,6:3:-8.13,-0.90,-4.17:32.65 chr6 32595234 . G A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.550000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.543C>T;refseq.codonCoord=181;refseq.end=32595234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D181D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-110;refseq.start=32595234;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr6 32595243 rs701830 C G 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=37.60;MQ0=16;OQ=59.97;QD=2.86;SB=-6.99;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.534G>C;refseq.codonCoord=178;refseq.end=32595243;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=539;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q178H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-119;refseq.start=32595243;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:17,4:4:-10.49,-1.20,-9.54:83.35 chr6 32595246 . A G 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=37.60;MQ0=16;OQ=124.23;QD=5.92;RankSumP=1.00000;SB=-51.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.531T>C;refseq.codonCoord=177;refseq.end=32595246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I177I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-122;refseq.start=32595246;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/1 chr6 32595255 . T C 41.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=41.34;MQ0=16;QD=1.39;RankSumP=0.428571;SB=-21.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.522A>G;refseq.codonCoord=174;refseq.end=32595255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T174T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-131;refseq.start=32595255;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/0 chr6 32595272 rs701828 C T 0.13 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.95;MQ0=17;OQ=205.14;QD=6.62;SB=-83.30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.505G>A;refseq.codonCoord=169;refseq.end=32595272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=135;refseq.start=32595272;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=gatk GT:AD:DP:GL:GQ 0/1:23,8:13:-27.71,-3.92,-25.07:99 chr6 32595287 . T C 20.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=40.52;MQ0=12;OQ=499.15;QD=19.97;RankSumP=1.00000;SB=-177.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.490A>G;refseq.codonCoord=164;refseq.end=32595287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S164G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=120;refseq.start=32595287;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr6 32595288 rs701827 G A 0.38 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.52;MQ0=12;OQ=189.82;QD=7.59;SB=-84.07;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.489C>T;refseq.codonCoord=163;refseq.end=32595288;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N163N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=119;refseq.start=32595288;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=gatk GT:AD:DP:GL:GQ 0/1:19,6:13:-26.18,-3.92,-26.82:99 chr6 32595331 . T C 95.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.91;MQ0=10;OQ=256.56;QD=15.09;RankSumP=1.00000;SB=-98.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.446A>G;refseq.codonCoord=149;refseq.end=32595331;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N149S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=76;refseq.start=32595331;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/1 chr6 32595368 . T G 0.53 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=75.47;MQ0=1;OQ=809.92;QD=38.57;SB=-413.06;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.409A>C;refseq.codonCoord=137;refseq.end=32595368;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T137P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=39;refseq.start=32595368;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=gatk GT:AD:DP:GL:GQ 1/1:0,21:20:-84.58,-6.02,-0.00:60.20 chr6 32595376 . C T 0.95 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=73.34;MQ0=1;OQ=972.47;QD=40.52;SB=-394.99;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.401G>A;refseq.codonCoord=134;refseq.end=32595376;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R134K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=31;refseq.start=32595376;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 1/1:0,24:23:-100.84,-6.93,-0.01:69.22 chr6 32595380 rs1136795 C A 6.61 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=72.59;MQ0=1;OQ=718.56;QD=31.24;SB=-210.25;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.397G>T;refseq.codonCoord=133;refseq.end=32595380;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=27;refseq.start=32595380;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=gatk GT:AD:DP:GL:GQ 0/1:3,20:22:-81.76,-6.62,-8.52:18.93 chr6 32597727 . G C 14.78 BadSOAPSNP;ESPStandard;LowQual;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=10.42;MQ=63.88;MQ0=0;QD=0.59;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.303C>G;refseq.codonCoord=101;refseq.end=32597727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R101R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-68;refseq.start=32597727;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/1 chr6 32597733 . G C 12.86 BadSOAPSNP;ESPStandard;LowQual;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=64.62;MQ0=0;QD=0.49;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.297C>G;refseq.codonCoord=99;refseq.end=32597733;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D99E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-74;refseq.start=32597733;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/1 chr6 32597735 . C G 18.15 BadSOAPSNP;ESPStandard;LowQual;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=62.68;MQ0=1;QD=0.70;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.295G>C;refseq.codonCoord=99;refseq.end=32597735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D99H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-76;refseq.start=32597735;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/1 chr6 32597744 . A G 22.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=10;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=67.07;MQ0=1;OQ=501.19;QD=12.85;RankSumP=1.00000;SB=-194.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.286T>C;refseq.codonCoord=96;refseq.end=32597744;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F96L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-85;refseq.start=32597744;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 1/1 chr6 32597764 rs41541218 T G 157.52 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.57;MQ=56.24;MQ0=1;QD=2.81;SB=-68.55;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.266A>C;refseq.codonCoord=89;refseq.end=32597764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y89S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-105;refseq.start=32597764;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:43,11:42:-31.69,-12.65,-122.53:99 chr6 32597769 . A G 1536.28 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=56.43;MQ0=1;QD=27.43;RankSumP=1.00000;SB=-725.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.261T>C;refseq.codonCoord=87;refseq.end=32597769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A87A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-110;refseq.start=32597769;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/1 chr6 32597772 . G A 1337.13 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=55.25;MQ0=2;QD=23.46;RankSumP=1.00000;SB=-662.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=32597772;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D86D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-113;refseq.start=32597772;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/1 chr6 32597773 rs41553717 T A 145.24 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=55.25;MQ0=2;QD=2.55;SB=-83.33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.257A>T;refseq.codonCoord=86;refseq.end=32597773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=262;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D86V;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-114;refseq.start=32597773;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:44,13:43:-30.76,-12.95,-136.66:99 chr6 32597831 rs1059580 A C 313.40 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=52.19;MQ0=1;QD=19.59;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.199T>G;refseq.codonCoord=67;refseq.end=32597831;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L67V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=99;refseq.start=32597831;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,12:12:-39.68,-7.60,-4.75:28.48 chr6 32597833 rs707957 T G 263.09 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=57.81;MQ0=1;QD=21.92;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.197A>C;refseq.codonCoord=66;refseq.end=32597833;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D66A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=97;refseq.start=32597833;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,8:8:-34.14,-6.18,-4.26:19.21 chr6 32597834 rs707956 C A 278.76 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=57.81;MQ0=1;QD=23.23;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.196G>T;refseq.codonCoord=66;refseq.end=32597834;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D66Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=96;refseq.start=32597834;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,11:8:-31.46,-2.41,-0.00:24.08 chr6 32597855 rs707955 C A 38.81 LowQual AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.82;MQ0=0;QD=5.54;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.175G>T;refseq.codonCoord=59;refseq.end=32597855;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D59Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=75;refseq.start=32597855;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,7:2:-7.29,-0.60,-0.00:6.02 chr6 32597861 rs1059573 G C 13.29 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.41;MQ0=0;QD=2.22;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.169C>G;refseq.codonCoord=57;refseq.end=32597861;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H57D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=69;refseq.start=32597861;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,6:1:-4.59,-0.30,-0.00:1.76 chr6 32597886 rs1136763 G A 10.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.40;MQ0=0;OQ=86.79;QD=28.93;SB=-10.00;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=32597886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N48N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=44;refseq.start=32597886;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=gatk GT:AD:DP:GL:GQ 1/1:0,3:3:-12.17,-0.90,-0.00:9.03 chr6 32605879 . C T 0.14 PASS AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=9.56;MQ=59.44;MQ0=4;OQ=835.27;QD=7.20;SB=-134.09;refseq.chr=chr6;refseq.codingCoordStr=c.100+1;refseq.end=32605879;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=32605879;refseq.transcriptStrand=-;set=gatk GT:AD:DP:GL:GQ 0/1:85,30:104:-118.13,-31.32,-297.12:99 chr6 32605883 . G T 78.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=9.88;MQ=59.28;MQ0=4;OQ=2702.41;QD=23.10;RankSumP=1.00000;SB=-785.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.97C>A;refseq.codonCoord=33;refseq.end=32605883;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R33R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=32605883;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr6 32605909 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=1;HaplotypeScore=4.76;MQ=58.95;MQ0=4;OQ=209.95;QD=1.79;SB=-77.32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.71C>T;refseq.codonCoord=24;refseq.end=32605909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=76;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S24F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-30;refseq.start=32605909;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:94,23:98:-53.80,-29.52,-349.98:99 chr6 32605921 rs17211043 A G 28.11 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=59.25;MQ0=4;QD=0.29;SB=131.45;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.59T>C;refseq.codonCoord=20;refseq.end=32605921;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=64;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M20T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-42;refseq.start=32605921;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:83,13:76:-28.99,-22.90,-276.62:60.94 chr6 32605938 . C A 581.61 SnpCluster AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=14.10;MQ=66.77;MQ0=0;QD=8.68;SB=-217.25;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.42G>T;refseq.codonCoord=14;refseq.end=32605938;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=47;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K14N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=47;refseq.start=32605938;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:6,45:32:-121.55,-63.80,-59.81:39.89 chr6 32605939 . T G 526.05 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=6;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=16.10;MQ=65.34;MQ0=0;QD=8.35;RankSumP=1.00000;SB=-249.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.41A>C;refseq.codonCoord=14;refseq.end=32605939;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=46;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K14T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=46;refseq.start=32605939;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 1/1 chr6 32605940 . T C 1065.60 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=9;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=16.10;MQ=64.57;MQ0=0;QD=17.19;RankSumP=1.00000;SB=-369.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.40A>G;refseq.codonCoord=14;refseq.end=32605940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=45;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K14E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=45;refseq.start=32605940;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/1 chr6 32605948 . T C 180.39 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=12.47;MQ=67.58;MQ0=1;QD=3.11;SB=-31.63;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.32A>G;refseq.codonCoord=11;refseq.end=32605948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=37;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y11C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=37;refseq.start=32605948;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:18,39:22:-27.95,-6.63,-62.35:99 chr6 32605953 . A G 38.30 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=66.29;MQ0=1;QD=0.74;SB=-34.91;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.27T>C;refseq.codonCoord=9;refseq.end=32605953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=32;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G9G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=32;refseq.start=32605953;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:18,34:19:-12.84,-5.72,-66.95:71.14 chr6 32605966 rs707953 T C 1.29 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=70.00;MQ0=1;OQ=408.28;QD=9.72;SB=2.04;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.14A>G;refseq.codonCoord=5;refseq.end=32605966;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=19;refseq.name=NM_002125;refseq.name2=HLA-DRB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K5R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=19;refseq.start=32605966;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=gatk GT:AD:DP:GL:GQ 0/1:28,14:37:-55.25,-11.14,-108.46:99 chr6 32713235 rs1047989 C A 50.42 PASS AC=1;AF=0.50;AN=2;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=91.19;MQ0=0;OQ=1890.41;QD=12.12;SB=-911.97;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.22C>A;refseq.codonCoord=8;refseq.end=32713235;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-61;refseq.start=32713235;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=gatk GT:AD:DP:GL:GQ 0/1:93,63:150:-237.49,-45.17,-368.78:99 chr6 32713249 rs1047993 C T 62.20 PASS AC=1;AF=0.50;AN=2;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=90.98;MQ0=0;OQ=2325.00;QD=13.29;SB=-1187.32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.36C>T;refseq.codonCoord=12;refseq.end=32713249;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=89;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L12L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-47;refseq.start=32713249;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=gatk GT:AD:DP:GL:GQ 0/1:104,71:161:-284.27,-48.49,-366.09:99 chr6 32713252 rs1130034 T C 62.69 PASS AC=1;AF=0.50;AN=2;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=91.07;MQ0=0;OQ=2267.59;QD=12.81;SB=-1148.97;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.39T>C;refseq.codonCoord=13;refseq.end=32713252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=92;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-44;refseq.start=32713252;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:103,73:159:-277.93,-47.89,-387.61:99 chr6 32717075 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=875;Dels=0.00;HRun=0;HaplotypeScore=13.38;MQ=97.11;MQ0=0;OQ=13747.97;QD=15.71;RankSumP=0.445179;SB=-5077.73;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.93T>C;refseq.codonCoord=31;refseq.end=32717075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=11;refseq.start=32717075;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr6 32717083 rs1129740 G A 11.94 PASS AC=1;AF=0.50;AN=2;DB;DP=838;Dels=0.00;HRun=0;HaplotypeScore=20.99;MQ=96.98;MQ0=0;OQ=14144.69;QD=16.88;SB=-5288.35;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.101G>A;refseq.codonCoord=34;refseq.end=32717083;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C34Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=19;refseq.start=32717083;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=gatk GT:AD:DP:GL:GQ 0/1:491,346:812:-1413.47,-244.52,-1967.91:99 chr6 32717104 rs1071630 T C 27.50 PASS AC=1;AF=0.50;AN=2;DB;DP=681;Dels=0.00;HRun=0;HaplotypeScore=25.36;MQ=97.30;MQ0=0;OQ=11366.05;QD=16.69;SB=-2736.62;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.122T>C;refseq.codonCoord=41;refseq.end=32717104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=175;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F41S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=40;refseq.start=32717104;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=gatk GT:AD:DP:GL:GQ 0/1:404,274:661:-1135.60,-202.92,-1730.28:99 chr6 32717151 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=6.58;MQ=96.90;MQ0=0;OQ=8281.98;QD=27.42;RankSumP=0.389696;SB=-1880.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.169C>G;refseq.codonCoord=57;refseq.end=32717151;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q57E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=87;refseq.start=32717151;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr6 32717170 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=2;HaplotypeScore=3.12;MQ=96.23;MQ0=0;OQ=2436.07;QD=10.92;RankSumP=0.198710;SB=-32.38;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.188A>G;refseq.codonCoord=63;refseq.end=32717170;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E63G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=106;refseq.start=32717170;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr6 32717185 rs1048038 C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=95.50;MQ0=0;OQ=113.10;QD=0.68;SB=80.82;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.203C>T;refseq.codonCoord=68;refseq.end=32717185;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A68V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=121;refseq.start=32717185;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:124,43:133:-54.65,-40.05,-494.74:99 chr6 32717784 . C T 211.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=477;Dels=0.00;HRun=0;HaplotypeScore=11.91;MQ=85.53;MQ0=11;OQ=6970.35;QD=14.61;RankSumP=0.297047;SB=-2491.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.389C>T;refseq.codonCoord=130;refseq.end=32717784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T130I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=58;refseq.start=32717784;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 32717791 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=460;Dels=0.00;HRun=0;HaplotypeScore=19.67;MQ=84.69;MQ0=13;OQ=6141.54;QD=13.35;RankSumP=0.293929;SB=-1894.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.396T>C;refseq.codonCoord=132;refseq.end=32717791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I132I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=65;refseq.start=32717791;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr6 32717851 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=463;Dels=0.00;HRun=0;HaplotypeScore=9.51;MQ=55.24;MQ0=62;OQ=614.60;QD=1.33;RankSumP=0.0494725;SB=390.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.456G>C;refseq.codonCoord=152;refseq.end=32717851;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q152H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=125;refseq.start=32717851;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 32717930 rs34847266 T C 40.80 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=514;Dels=0.00;HRun=2;HaplotypeScore=14.66;MQ=45.54;MQ0=333;QD=0.08;SB=252.69;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.535T>C;refseq.codonCoord=179;refseq.end=32717930;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F179L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-79;refseq.start=32717930;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:444,69:171:-58.86,-51.49,-676.45:73.63 chr6 32717985 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.04620e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.590A>C;refseq.codonCoord=197;refseq.end=32717985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D197A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-24;refseq.start=32717985;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 32718414 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=6.58;MQ=79.91;MQ0=41;OQ=8805.88;QD=31.79;RankSumP=1.00000;SB=-4027.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=32718414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C221C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=50;refseq.start=32718414;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr6 32718423 rs1048381 G A 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=77.67;MQ0=58;OQ=940.40;QD=3.10;SB=-299.71;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.672G>A;refseq.codonCoord=224;refseq.end=32718423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G224G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=59;refseq.start=32718423;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=gatk GT:AD:DP:GL:GQ 0/1:244,58:237:-168.69,-71.37,-797.35:99 chr6 32718439 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=15.35;MQ=77.03;MQ0=71;OQ=8669.63;QD=27.79;RankSumP=1.00000;SB=-3818.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.688A>G;refseq.codonCoord=230;refseq.end=32718439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M230V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=75;refseq.start=32718439;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr6 32718473 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=17.34;MQ=82.62;MQ0=67;OQ=2296.42;QD=5.11;RankSumP=0.214808;SB=-915.94;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.722A>G;refseq.codonCoord=241;refseq.end=32718473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q241R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-67;refseq.start=32718473;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr6 32718513 . A C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=529;Dels=0.00;HRun=2;HaplotypeScore=14.00;MQ=90.90;MQ0=19;OQ=2789.93;QD=5.27;RankSumP=0.430554;SB=-895.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.762A>C;refseq.codonCoord=254;refseq.end=32718513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_002122;refseq.name2=HLA-DQA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P254P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-27;refseq.start=32718513;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr6 32737107 . T C 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=9.14;MQ=94.35;MQ0=0;OQ=2882.36;QD=31.33;RankSumP=1.00000;SB=-570.20;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.767A>G;refseq.codonCoord=256;refseq.end=32737107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q256R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=32737107;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 32737115 rs1140343 T G 34.36 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=11.45;MQ=93.98;MQ0=0;QD=0.29;SB=43.07;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.759A>C;refseq.codonCoord=253;refseq.end=32737115;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q253H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-14;refseq.start=32737115;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:105,11:112:-43.68,-36.96,-410.60:67.20 chr6 32737119 rs1140342 C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=92.29;MQ0=2;OQ=90.18;QD=0.67;SB=-53.08;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.755G>A;refseq.codonCoord=252;refseq.end=32737119;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R252H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-18;refseq.start=32737119;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:120,14:127:-50.55,-38.25,-447.43:99 chr6 32737133 . C A 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=154;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=89.44;MQ0=3;OQ=5256.02;QD=34.13;RankSumP=1.00000;SB=-2136.42;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.741G>T;refseq.codonCoord=247;refseq.end=32737133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L247L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-32;refseq.start=32737133;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/1 chr6 32737139 rs1130430 A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=88.04;MQ0=3;OQ=117.28;QD=0.71;SB=-57.42;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.735T>C;refseq.codonCoord=245;refseq.end=32737139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L245L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-38;refseq.start=32737139;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:145,21:158:-62.59,-47.58,-610.90:99 chr6 32737780 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=174;Dels=0.00;HRun=0;HaplotypeScore=17.97;MQ=90.22;MQ0=0;OQ=1901.03;QD=10.93;RankSumP=0.163533;SB=-413.99;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.603T>C;refseq.codonCoord=201;refseq.end=32737780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D201D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-59;refseq.start=32737780;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 32737825 . A G 232.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=90.90;MQ0=0;OQ=5555.78;QD=39.13;RankSumP=1.00000;SB=-2764.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.558T>C;refseq.codonCoord=186;refseq.end=32737825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T186T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-104;refseq.start=32737825;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr6 32737837 . A G 140.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=91.51;MQ0=0;OQ=2175.97;QD=14.60;RankSumP=0.578547;SB=-1050.92;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=32737837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N182N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-116;refseq.start=32737837;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr6 32737846 . A G 160.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=92.24;MQ0=0;OQ=2364.27;QD=16.31;RankSumP=0.0824684;SB=-1052.21;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.537T>C;refseq.codonCoord=179;refseq.end=32737846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L179L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-125;refseq.start=32737846;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr6 32737867 . G A 125.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=90.27;MQ0=2;OQ=1878.17;QD=13.91;RankSumP=0.135049;SB=-900.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.516C>T;refseq.codonCoord=172;refseq.end=32737867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=137;refseq.start=32737867;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 32737882 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=90.04;MQ0=2;OQ=1608.65;QD=11.92;RankSumP=0.0272234;SB=-636.63;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=32737882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D167D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=122;refseq.start=32737882;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 32737913 . C G 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=121;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=82.75;MQ0=6;OQ=827.03;QD=6.83;RankSumP=0.560903;SB=-98.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.470G>C;refseq.codonCoord=157;refseq.end=32737913;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=91;refseq.start=32737913;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr6 32737914 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=82.33;MQ0=6;OQ=3147.01;QD=26.01;RankSumP=0.679421;SB=-1363.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.469G>A;refseq.codonCoord=157;refseq.end=32737914;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=90;refseq.start=32737914;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr6 32737941 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=74.03;MQ0=21;OQ=2799.65;QD=25.22;RankSumP=0.294475;SB=-1341.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.442G>A;refseq.codonCoord=148;refseq.end=32737941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V148I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=63;refseq.start=32737941;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 32740565 rs1130397 A G 140.49 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=74.91;MQ0=0;OQ=898.01;QD=37.42;SB=-339.47;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.367T>C;refseq.codonCoord=123;refseq.end=32740565;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L123L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-13;refseq.start=32740565;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 1/1:0,24:23:-93.39,-6.93,-0.00:69.22 chr6 32740576 rs17412833 A T 6.91 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=70.65;MQ0=0;OQ=708.66;QD=27.26;SB=-338.88;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.356T>A;refseq.codonCoord=119;refseq.end=32740576;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F119Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-24;refseq.start=32740576;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=gatk GT:AD:DP:GL:GQ 1/1:0,23:20:-74.46,-6.03,-0.01:60.17 chr6 32740606 rs1130392 G C 2.87 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=68.65;MQ0=0;OQ=398.57;QD=12.46;SB=-107.94;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.326C>G;refseq.codonCoord=109;refseq.end=32740606;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-54;refseq.start=32740606;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=gatk GT:AD:DP:GL:GQ 1/1:0,32:9:-43.44,-2.71,-0.00:27.09 chr6 32740625 rs1130390 T C 0.01 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=4;HaplotypeScore=7.99;MQ=69.80;MQ0=0;OQ=254.64;QD=8.21;SB=-10.00;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.307A>G;refseq.codonCoord=103;refseq.end=32740625;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T103A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-73;refseq.start=32740625;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:2,29:8:-29.05,-2.41,-0.00:24.07 chr6 32740666 . T A 16.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=15.51;MQ=78.42;MQ0=0;OQ=4441.85;QD=35.53;RankSumP=1.00000;SB=-1162.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.266A>T;refseq.codonCoord=89;refseq.end=32740666;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D89V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-114;refseq.start=32740666;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 1/1 chr6 32740689 . C T 28.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=17.81;MQ=77.30;MQ0=0;OQ=5532.94;QD=34.15;RankSumP=1.00000;SB=-2508.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=32740689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A81A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=134;refseq.start=32740689;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/1 chr6 32740692 . G C 14.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=2;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=16.33;MQ=77.40;MQ0=0;OQ=6667.93;QD=40.17;RankSumP=1.00000;SB=-3037.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.240C>G;refseq.codonCoord=80;refseq.end=32740692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R80R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=131;refseq.start=32740692;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/1 chr6 32740723 . G A 159.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=6;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=74.66;MQ0=0;OQ=3634.98;QD=33.66;RankSumP=1.00000;SB=-693.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.209C>T;refseq.codonCoord=70;refseq.end=32740723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A70V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=100;refseq.start=32740723;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 1/1 chr6 32740747 rs9274403 T C 71.61 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=68.76;MQ0=0;QD=1.02;SB=14.23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.185A>G;refseq.codonCoord=62;refseq.end=32740747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y62C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=76;refseq.start=32740747;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:57,13:25:-17.98,-7.53,-80.02:99 chr6 32740748 . A G 1731.98 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=69.64;MQ0=0;QD=27.06;RankSumP=1.00000;SB=-161.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.184T>C;refseq.codonCoord=62;refseq.end=32740748;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y62H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=75;refseq.start=32740748;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/1 chr6 32740753 rs9274405 G C 505.79 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=69.57;MQ0=0;QD=7.90;SB=-155.52;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.179C>G;refseq.codonCoord=60;refseq.end=32740753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=70;refseq.start=32740753;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:49,15:25:-61.40,-7.53,-50.91:99 chr6 32740759 rs1049066 A C 1291.18 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=69.36;MQ0=0;QD=21.17;SB=-153.21;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.173T>G;refseq.codonCoord=58;refseq.end=32740759;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L58R;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=64;refseq.start=32740759;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:20,41:46:-146.25,-13.85,-35.73:99 chr6 32740760 rs12722115 G C 1489.33 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=68.67;MQ0=0;QD=24.82;SB=-171.79;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.172C>G;refseq.codonCoord=58;refseq.end=32740760;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L58V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=63;refseq.start=32740760;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:23,37:45:-165.77,-13.55,-56.45:99 chr6 32740761 rs1140310 A C 1102.60 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=68.30;MQ0=0;QD=18.38;SB=-116.65;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.171T>G;refseq.codonCoord=57;refseq.end=32740761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R57R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=62;refseq.start=32740761;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:22,38:44:-126.79,-13.25,-45.82:99 chr6 32740773 rs1049079 C T 61.04 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=72.21;MQ0=0;OQ=872.07;QD=13.21;SB=-438.96;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.159G>A;refseq.codonCoord=53;refseq.end=32740773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T53T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=50;refseq.start=32740773;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=gatk GT:AD:DP:GL:GQ 0/1:39,26:58:-107.96,-17.47,-123.57:99 chr6 32740796 rs1130368 T G 18.20 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=75.05;MQ0=0;OQ=837.67;QD=15.23;SB=-142.92;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.136A>C;refseq.codonCoord=46;refseq.end=32740796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M46L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=27;refseq.start=32740796;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:27,28:51:-102.41,-15.36,-100.71:99 chr6 32740810 rs9274407 A T 205.11 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=76.30;MQ0=0;OQ=1760.96;QD=35.94;SB=-347.51;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.122T>A;refseq.codonCoord=41;refseq.end=32740810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F41Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=13;refseq.start=32740810;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=gatk GT:AD:DP:GL:GQ 1/1:0,49:47:-179.70,-14.16,-0.02:99 chr6 32742278 rs1130366 G C 428.28 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=83.71;MQ0=0;QD=4.16;SB=-41.40;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.85C>G;refseq.codonCoord=29;refseq.end=32742278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L29V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-25;refseq.start=32742278;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:77,26:87:-72.31,-26.20,-354.60:99 chr6 32742280 rs1049062 A G 3835.76 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.00;HRun=3;HaplotypeScore=5.08;MQ=83.84;MQ0=0;QD=36.19;SB=-1901.43;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.83T>C;refseq.codonCoord=28;refseq.end=32742280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L28P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-27;refseq.start=32742280;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,105:91:-382.58,-27.40,-0.01:99 chr6 32742281 rs1049061 G A 3215.90 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=83.95;MQ0=0;QD=29.78;SB=-1466.71;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.82C>T;refseq.codonCoord=28;refseq.end=32742281;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L28L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-28;refseq.start=32742281;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:26,82:78:-328.96,-23.49,-3.78:99 chr6 32742284 rs1049060 A T 251.85 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=85.48;MQ0=0;QD=2.38;SB=49.65;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.79T>A;refseq.codonCoord=27;refseq.end=32742284;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S27T;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-31;refseq.start=32742284;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:83,16:93:-56.48,-28.01,-318.69:99 chr6 32742291 . C G 4671.86 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=7.52;MQ=86.85;MQ0=0;QD=39.59;RankSumP=1.00000;SB=-2016.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.72G>C;refseq.codonCoord=24;refseq.end=32742291;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M24I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-38;refseq.start=32742291;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/1 chr6 32742309 rs1049058 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.41;MQ=86.78;MQ0=0;OQ=368.67;QD=2.73;SB=61.61;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.54C>G;refseq.codonCoord=18;refseq.end=32742309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=136;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V18V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-56;refseq.start=32742309;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:119,16:131:-79.60,-39.45,-568.57:99 chr6 32742319 rs3189152 A G 14.56 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=88.87;MQ0=0;QD=0.11;SB=146.52;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.44T>C;refseq.codonCoord=15;refseq.end=32742319;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-66;refseq.start=32742319;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:123,11:130:-43.88,-39.16,-482.21:47.24 chr6 32742347 . C A 32.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=87.95;MQ0=0;OQ=2660.94;QD=28.92;RankSumP=1.00000;SB=-930.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.16G>T;refseq.codonCoord=6;refseq.end=32742347;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-94;refseq.start=32742347;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=filterInsoap-gatk GT 1/1 chr6 32742351 rs9274522 C T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=2.95;MQ=88.45;MQ0=0;OQ=106.32;QD=1.19;SB=68.25;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=32742351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_002123;refseq.name2=HLA-DQB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=94;refseq.start=32742351;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:80,9:86:-39.81,-25.89,-330.99:99 chr6 32821008 . T C 220.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=540;Dels=0.00;HRun=0;HaplotypeScore=13.33;MQ=98.75;MQ0=0;OQ=10359.62;QD=19.18;RankSumP=0.397004;SB=-2943.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.177T>C;refseq.codonCoord=59;refseq.end=32821008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_020056;refseq.name2=HLA-DQA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y59Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=95;refseq.start=32821008;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr6 32821103 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.272T>G;refseq.codonCoord=91;refseq.end=32821103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_020056;refseq.name2=HLA-DQA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V91G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-60;refseq.start=32821103;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 32821652 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.347877;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.438C>A;refseq.codonCoord=146;refseq.end=32821652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_020056;refseq.name2=HLA-DQA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T146T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=107;refseq.start=32821652;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/0 chr6 32821749 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.179965;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.535T>C;refseq.codonCoord=179;refseq.end=32821749;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_020056;refseq.name2=HLA-DQA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F179L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-79;refseq.start=32821749;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr6 32891064 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=23.55;MQ=98.59;MQ0=0;OQ=7167.00;QD=21.27;RankSumP=0.328195;SB=-2678.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=32891064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_002120;refseq.name2=HLA-DOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D32D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=32891064;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 32905787 . C T 242.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=10.48;MQ=98.72;MQ0=0;OQ=2394.65;QD=15.75;RankSumP=0.409659;SB=-802.86;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1693G>A;refseq.codingCoordStr_2=c.1693G>A;refseq.codonCoord_1=565;refseq.codonCoord_2=565;refseq.end_1=32905787;refseq.end_2=32905787;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1815;refseq.mrnaCoord_2=1815;refseq.name2_1=TAP2;refseq.name2_2=TAP2;refseq.name_1=NM_000544;refseq.name_2=NM_018833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A565T;refseq.proteinCoordStr_2=p.A565T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=32905787;refseq.start_2=32905787;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr6 32906116 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1541C>G;refseq.codingCoordStr_2=c.1541C>G;refseq.codonCoord_1=514;refseq.codonCoord_2=514;refseq.end_1=32906116;refseq.end_2=32906116;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1663;refseq.mrnaCoord_2=1663;refseq.name2_1=TAP2;refseq.name2_2=TAP2;refseq.name_1=NM_000544;refseq.name_2=NM_018833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A514G;refseq.proteinCoordStr_2=p.A514G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=32906116;refseq.start_2=32906116;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr6 32908390 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=28.29;MQ=98.28;MQ0=0;OQ=4389.40;QD=13.46;RankSumP=0.225477;SB=-560.35;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1135G>A;refseq.codingCoordStr_2=c.1135G>A;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.end_1=32908390;refseq.end_2=32908390;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1257;refseq.name2_1=TAP2;refseq.name2_2=TAP2;refseq.name_1=NM_000544;refseq.name_2=NM_018833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V379I;refseq.proteinCoordStr_2=p.V379I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=32908390;refseq.start_2=32908390;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr6 32913546 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.443A>C;refseq.codingCoordStr_2=c.443A>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=32913546;refseq.end_2=32913546;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=565;refseq.mrnaCoord_2=565;refseq.name2_1=TAP2;refseq.name2_2=TAP2;refseq.name_1=NM_000544;refseq.name_2=NM_018833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D148A;refseq.proteinCoordStr_2=p.D148A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=32913546;refseq.start_2=32913546;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr6 32913848 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.000119472;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.141A>G;refseq.codingCoordStr_2=c.141A>G;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=32913848;refseq.end_2=32913848;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=263;refseq.name2_1=TAP2;refseq.name2_2=TAP2;refseq.name_1=NM_000544;refseq.name_2=NM_018833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G47G;refseq.proteinCoordStr_2=p.G47G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.start_1=32913848;refseq.start_2=32913848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr6 32919623 . A G 122.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=98.54;MQ0=0;OQ=1220.43;QD=14.53;RankSumP=0.182257;SB=-447.56;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.129T>C;refseq.codonCoord_2=43;refseq.end_1=32920023;refseq.end_2=32919623;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=172;refseq.name2_1=PSMB8;refseq.name2_2=PSMB8;refseq.name_1=NM_004159;refseq.name_2=NM_148919;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A43A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-19;refseq.start_1=32918855;refseq.start_2=32919623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr6 32922880 . C T 179.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=467;Dels=0.00;HRun=0;HaplotypeScore=13.70;MQ=98.33;MQ0=0;OQ=7568.79;QD=16.21;RankSumP=0.327336;SB=-1724.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2163G>A;refseq.codonCoord=721;refseq.end=32922880;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2318;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P721P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-58;refseq.start=32922880;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr6 32922953 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=10.86;MQ=98.15;MQ0=0;OQ=2699.54;QD=11.34;RankSumP=0.340918;SB=-855.04;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2090A>G;refseq.codonCoord=697;refseq.end=32922953;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2245;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D697G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=32922953;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr6 32924421 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=8.86;MQ=98.80;MQ0=0;OQ=1412.72;QD=10.39;RankSumP=0.0850954;SB=-556.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1732G>A;refseq.codonCoord=578;refseq.end=32924421;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1887;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V578I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-15;refseq.start=32924421;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 32926214 . G A 214.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=98.52;MQ0=0;OQ=2284.53;QD=16.20;RankSumP=0.300787;SB=-930.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1289C>T;refseq.codonCoord=430;refseq.end=32926214;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A430V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=59;refseq.start=32926214;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr6 32926752 . T C 193.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=4.47;MQ=99.00;MQ0=0;OQ=2940.20;QD=14.14;RankSumP=0.398162;SB=-1117.10;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1177A>G;refseq.codonCoord=393;refseq.end=32926752;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1332;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I393V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-54;refseq.start=32926752;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr6 32927946 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=23.43;MQ=98.70;MQ0=0;OQ=5112.99;QD=16.08;RankSumP=0.00201648;SB=-2120.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.942C>T;refseq.codonCoord=314;refseq.end=32927946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G314G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=49;refseq.start=32927946;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr6 32928969 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.14;MQ0=0;OQ=544.24;QD=8.00;RankSumP=0.276054;SB=-269.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.603T>C;refseq.codonCoord=201;refseq.end=32928969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_000593;refseq.name2=TAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V201V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-176;refseq.start=32928969;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr6 32933068 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=32.67;MQ=98.03;MQ0=0;OQ=6672.57;QD=14.70;RankSumP=0.0275098;SB=-1959.89;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.179G>A;refseq.codingCoordStr_2=c.149G>A;refseq.codonCoord_1=60;refseq.codonCoord_2=50;refseq.end_1=32933068;refseq.end_2=32933068;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=248;refseq.mrnaCoord_2=218;refseq.name2_1=PSMB9;refseq.name2_2=PSMB9;refseq.name_1=NM_002800;refseq.name_2=NM_148954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R60H;refseq.proteinCoordStr_2=p.R50H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=32933068;refseq.start_2=32933068;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr6 33012959 . G A 302.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.93;MQ0=0;OQ=8277.39;QD=41.39;RankSumP=1.00000;SB=-3884.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.590C>T;refseq.codonCoord=197;refseq.end=33012959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_002118;refseq.name2=HLA-DMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T197I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-33;refseq.start=33012959;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr6 33014564 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=99.00;MQ0=0;OQ=1721.70;QD=13.14;RankSumP=0.409362;SB=-458.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.212G>A;refseq.codonCoord=71;refseq.end=33014564;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_002118;refseq.name2=HLA-DMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S71N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-126;refseq.start=33014564;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr6 33014630 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=10.20;MQ=98.09;MQ0=0;OQ=993.46;QD=13.80;RankSumP=0.180405;SB=-304.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.146A>T;refseq.codonCoord=49;refseq.end=33014630;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=379;refseq.name=NM_002118;refseq.name2=HLA-DMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D49V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=91;refseq.start=33014630;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr6 33014694 . T C 187.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.70;MQ0=0;OQ=950.42;QD=14.19;RankSumP=0.227893;SB=-484.31;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.82A>G;refseq.codonCoord=28;refseq.end=33014694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_002118;refseq.name2=HLA-DMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T28A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=27;refseq.start=33014694;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr6 33025389 . C T 118.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=840.16;QD=18.26;RankSumP=0.478296;SB=-401.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.629G>A;refseq.codonCoord=210;refseq.end=33025389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_006120;refseq.name2=HLA-DMA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R210H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-24;refseq.start=33025389;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 33025476 . C G 161.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.71;MQ0=0;OQ=2365.25;QD=14.69;RankSumP=0.428562;SB=-311.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.542G>C;refseq.codonCoord=181;refseq.end=33025476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_006120;refseq.name2=HLA-DMA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G181A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-111;refseq.start=33025476;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr6 33050280 . G A 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=187;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=96.36;MQ0=0;OQ=7481.15;QD=40.01;RankSumP=1.00000;SB=-2555.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.93G>A;refseq.codingCoordStr_2=c.93G>A;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=33050280;refseq.end_2=33050280;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1694;refseq.mrnaCoord_2=1794;refseq.name2_1=BRD2;refseq.name2_2=BRD2;refseq.name_1=NM_001113182;refseq.name_2=NM_005104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K31K;refseq.proteinCoordStr_2=p.K31K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=33050280;refseq.start_2=33050280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr6 33053603 . C T 197.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=17.70;MQ=98.54;MQ0=0;OQ=6421.07;QD=17.45;RankSumP=0.158724;SB=-1333.60;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1421C>T;refseq.codingCoordStr_2=c.1421C>T;refseq.codonCoord_1=474;refseq.codonCoord_2=474;refseq.end_1=33053603;refseq.end_2=33053603;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3022;refseq.mrnaCoord_2=3122;refseq.name2_1=BRD2;refseq.name2_2=BRD2;refseq.name_1=NM_001113182;refseq.name_2=NM_005104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A474V;refseq.proteinCoordStr_2=p.A474V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=92;refseq.spliceDist_2=92;refseq.start_1=33053603;refseq.start_2=33053603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr6 33054111 . T C 179.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=404;Dels=0.00;HRun=1;HaplotypeScore=9.18;MQ=98.57;MQ0=0;OQ=6905.76;QD=17.09;RankSumP=0.445654;SB=-2229.55;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1809T>C;refseq.codingCoordStr_2=c.1809T>C;refseq.codonCoord_1=603;refseq.codonCoord_2=603;refseq.end_1=33054111;refseq.end_2=33054111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3410;refseq.mrnaCoord_2=3510;refseq.name2_1=BRD2;refseq.name2_2=BRD2;refseq.name_1=NM_001113182;refseq.name_2=NM_005104;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S603S;refseq.proteinCoordStr_2=p.S603S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=33054111;refseq.start_2=33054111;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr6 33082912 . G A 209.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=98.46;MQ0=0;OQ=1997.78;QD=13.97;RankSumP=0.00654172;SB=-765.80;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.672C>T;refseq.codonCoord=224;refseq.end=33082912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_002119;refseq.name2=HLA-DOA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G224G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=59;refseq.start=33082912;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr6 33083235 . C T 202.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.92;MQ0=0;OQ=1677.83;QD=14.46;RankSumP=0.0683592;SB=-789.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.444G>A;refseq.codonCoord=148;refseq.end=33083235;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_002119;refseq.name2=HLA-DOA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=113;refseq.start=33083235;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr6 33083847 . G A 213.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.89;MQ0=0;OQ=1320.37;QD=15.18;RankSumP=0.0158595;SB=-452.97;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=33083847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_002119;refseq.name2=HLA-DOA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G84G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-80;refseq.start=33083847;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr6 33144413 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=3;HaplotypeScore=2.96;MQ=97.64;MQ0=0;OQ=1948.64;QD=9.11;RankSumP=0.275049;SB=-530.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.775A>C;refseq.codonCoord=259;refseq.end=33144413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T259P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-21;refseq.start=33144413;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr6 33144483 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=2;HaplotypeScore=9.22;MQ=97.99;MQ0=0;OQ=2714.04;QD=16.35;RankSumP=0.468443;SB=-751.44;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.705C>G;refseq.codonCoord=235;refseq.end=33144483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V235V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=77;refseq.start=33144483;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr6 33144797 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=7.53985e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.605A>C;refseq.codonCoord=202;refseq.end=33144797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D202A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-24;refseq.start=33144797;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr6 33144831 . A C 152.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=96.43;MQ0=0;OQ=2258.77;QD=14.67;RankSumP=0.0962817;SB=-1093.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.571T>G;refseq.codonCoord=191;refseq.end=33144831;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F191V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-58;refseq.start=33144831;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr6 33144928 rs2308931 C T 2486.40 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=7.61;MQ=94.46;MQ0=0;QD=13.23;SB=-1221.53;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.474G>A;refseq.codonCoord=158;refseq.end=33144928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L158L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=128;refseq.start=33144928;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:107,81:163:-301.01,-49.08,-379.22:99 chr6 33144929 rs2308930 A G 2319.45 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=9.57;MQ=94.46;MQ0=0;QD=12.34;SB=-1175.73;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.473T>C;refseq.codonCoord=158;refseq.end=33144929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L158P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=127;refseq.start=33144929;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:107,80:165:-284.92,-49.69,-404.52:99 chr6 33144937 rs2308929 G A 2175.68 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=94.62;MQ0=0;QD=11.39;SB=-919.72;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=33144937;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N155N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=119;refseq.start=33144937;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:107,79:167:-271.17,-50.32,-368.05:99 chr6 33144949 . C T 86.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=95.20;MQ0=0;OQ=2710.86;QD=12.73;RankSumP=0.133349;SB=-1232.45;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=33144949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=107;refseq.start=33144949;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 33144977 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=14.49;MQ=96.49;MQ0=0;OQ=4950.77;QD=17.19;RankSumP=0.234008;SB=-1963.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.425A>G;refseq.codonCoord=142;refseq.end=33144977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K142R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=79;refseq.start=33144977;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr6 33145397 rs1126543 G A 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=96.19;MQ0=0;OQ=808.47;QD=3.25;SB=-196.57;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.345C>T;refseq.codonCoord=115;refseq.end=33145397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N115N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=33145397;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=gatk GT:AD:DP:GL:GQ 0/1:186,63:220:-150.38,-66.25,-721.53:99 chr6 33145402 . T C 10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=96.07;MQ0=0;OQ=861.87;QD=3.34;RankSumP=0.0366654;SB=-137.12;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.340A>G;refseq.codonCoord=114;refseq.end=33145402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T114A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=33145402;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/0 chr6 33145500 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=95.19;MQ0=0;OQ=2052.28;QD=9.96;RankSumP=0.431077;SB=-889.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.242A>G;refseq.codonCoord=81;refseq.end=33145500;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q81R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-105;refseq.start=33145500;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr6 33145535 rs1042177 C T 4.62 PASS AC=1;AF=0.50;AN=2;DB;DP=209;Dels=0.00;HRun=2;HaplotypeScore=6.60;MQ=94.91;MQ0=0;OQ=1892.42;QD=9.05;SB=-927.05;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.207G>A;refseq.codonCoord=69;refseq.end=33145535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K69K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=107;refseq.start=33145535;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=gatk GT:AD:DP:GL:GQ 0/1:148,61:202:-253.35,-60.82,-613.01:99 chr6 33145538 rs1042176 G A 3.07 PASS AC=1;AF=0.50;AN=2;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=8.48;MQ=94.96;MQ0=0;OQ=1576.28;QD=7.73;SB=-744.41;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.204C>T;refseq.codonCoord=68;refseq.end=33145538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D68D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=104;refseq.start=33145538;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=gatk GT:AD:DP:GL:GQ 0/1:144,59:192:-218.72,-57.81,-586.56:99 chr6 33145557 rs2308912 A T 7.68 PASS AC=1;AF=0.50;AN=2;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=9.93;MQ=95.83;MQ0=0;OQ=1723.61;QD=8.37;SB=-830.96;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.185T>A;refseq.codonCoord=62;refseq.end=33145557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M62K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=85;refseq.start=33145557;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:147,59:205:-237.38,-61.73,-580.98:99 chr6 33145558 rs2308911 T G 4.97 PASS AC=1;AF=0.50;AN=2;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=95.86;MQ0=0;OQ=1710.91;QD=8.35;SB=-853.19;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.184A>C;refseq.codonCoord=62;refseq.end=33145558;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=215;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M62L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=84;refseq.start=33145558;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:148,57:204:-235.80,-61.42,-573.29:99 chr6 33145604 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.02;MQ0=0;OQ=4013.32;QD=16.38;RankSumP=0.480425;SB=-1389.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.138G>C;refseq.codonCoord=46;refseq.end=33145604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_033554;refseq.name2=HLA-DPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=38;refseq.start=33145604;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr6 33156520 . C T 135.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=94.54;MQ0=1;OQ=3154.37;QD=14.40;RankSumP=0.136366;SB=-1589.02;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.194C>T;refseq.codonCoord=65;refseq.end=33156520;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=94;refseq.start=33156520;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr6 33156577 rs707958 C A 1052.89 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=91.35;MQ0=5;QD=5.66;SB=-374.24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.251C>A;refseq.codonCoord=84;refseq.end=33156577;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A84D;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-114;refseq.start=33156577;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:129,57:160:-156.76,-48.18,-463.38:99 chr6 33156580 rs1042131 C A 994.43 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=91.40;MQ0=5;QD=5.49;SB=-372.28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.254C>A;refseq.codonCoord=85;refseq.end=33156580;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A85E;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-111;refseq.start=33156580;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:129,50:152:-148.52,-45.79,-393.09:99 chr6 33156584 rs1042133 G C 1165.95 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=91.57;MQ0=4;QD=6.70;SB=-418.55;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.258G>C;refseq.codonCoord=86;refseq.end=33156584;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E86D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-107;refseq.start=33156584;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:125,48:145:-163.58,-43.70,-498.87:99 chr6 33156606 rs1042136 A C 0.44 PASS AC=1;AF=0.50;AN=2;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=92.66;MQ0=3;OQ=955.00;QD=6.87;SB=-121.60;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.280A>C;refseq.codonCoord=94;refseq.end=33156606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I94L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-85;refseq.start=33156606;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:95,44:121:-135.23,-36.44,-325.95:99 chr6 33156639 rs1042151 A G 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=94.32;MQ0=0;OQ=422.77;QD=5.87;SB=-0.81;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.313A>G;refseq.codonCoord=105;refseq.end=33156639;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M105V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-52;refseq.start=33156639;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:53,19:62:-64.24,-18.68,-185.03:99 chr6 33156641 rs1042153 G A 0.23 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=94.39;MQ0=0;OQ=475.22;QD=6.51;SB=-36.17;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.315G>A;refseq.codonCoord=105;refseq.end=33156641;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M105I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-50;refseq.start=33156641;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=gatk GT:AD:DP:GL:GQ 0/1:54,19:62:-69.48,-18.67,-178.70:99 chr6 33156664 rs1042169 G A 285.27 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=94.44;MQ0=0;QD=5.09;SB=-143.56;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.338G>A;refseq.codonCoord=113;refseq.end=33156664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-27;refseq.start=33156664;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:43,13:45:-45.36,-13.55,-138.35:99 chr6 33156667 rs9277354 G A 220.20 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=11.13;MQ=94.88;MQ0=0;QD=4.23;SB=-134.50;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.341G>A;refseq.codonCoord=114;refseq.end=33156667;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G114E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-24;refseq.start=33156667;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:41,11:42:-37.95,-12.65,-132.41:99 chr6 33156669 rs9277355 C G 217.85 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=8.97;MQ=94.96;MQ0=0;QD=4.11;SB=-131.66;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.343C>G;refseq.codonCoord=115;refseq.end=33156669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P115A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-22;refseq.start=33156669;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:41,12:42:-37.72,-12.65,-158.03:99 chr6 33156672 rs9277356 A G 141.06 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=95.69;MQ0=0;QD=2.77;SB=-88.77;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.346A>G;refseq.codonCoord=116;refseq.end=33156672;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=405;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M116V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-19;refseq.start=33156672;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:41,9:41:-29.74,-12.35,-134.04:99 chr6 33160714 rs1126537 G A 0.43 PASS AC=1;AF=0.50;AN=2;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=12.66;MQ=93.35;MQ0=0;OQ=525.41;QD=1.86;SB=7.36;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.374G>A;refseq.codonCoord=125;refseq.end=33160714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R125K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=33160714;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:219,63:235:-126.58,-70.76,-882.00:99 chr6 33160721 rs1126541 T C 0.74 PASS AC=1;AF=0.50;AN=2;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=93.42;MQ0=0;OQ=1772.43;QD=5.87;SB=5.99;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.381T>C;refseq.codonCoord=127;refseq.end=33160721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N127N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=17;refseq.start=33160721;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=gatk GT:AD:DP:GL:GQ 0/1:229,72:284:-266.05,-85.53,-916.10:99 chr6 33160746 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=380;Dels=0.00;HRun=3;HaplotypeScore=8.99;MQ=93.73;MQ0=0;OQ=4449.11;QD=11.71;RankSumP=0.457308;SB=-981.36;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.406T>C;refseq.codonCoord=136;refseq.end=33160746;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L136L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=42;refseq.start=33160746;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr6 33160781 . G A 207.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=88.05;MQ0=2;OQ=6602.18;QD=15.91;RankSumP=0.139744;SB=-1966.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.441G>A;refseq.codonCoord=147;refseq.end=33160781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=77;refseq.start=33160781;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr6 33160928 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=94.74;MQ0=4;OQ=3224.03;QD=11.16;RankSumP=0.0458718;SB=-1282.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.588T>C;refseq.codonCoord=196;refseq.end=33160928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D196D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-59;refseq.start=33160928;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr6 33160936 . C T 162.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=12.79;MQ=96.63;MQ0=2;OQ=4735.56;QD=15.43;RankSumP=0.273878;SB=-1545.17;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.596C>T;refseq.codonCoord=199;refseq.end=33160936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-51;refseq.start=33160936;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 33160964 . T C 226.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=97.65;MQ0=2;OQ=5472.52;QD=18.24;RankSumP=0.280299;SB=-2051.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.624T>C;refseq.codonCoord=208;refseq.end=33160964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_002121;refseq.name2=HLA-DPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D208D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-23;refseq.start=33160964;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr6 33246655 . G A 228.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=17.77;MQ=98.14;MQ0=0;OQ=7482.51;QD=21.02;RankSumP=0.306221;SB=-2605.94;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.3063C>T;refseq.codingCoordStr_2=c.3384C>T;refseq.codingCoordStr_3=c.3126C>T;refseq.codonCoord_1=1021;refseq.codonCoord_2=1128;refseq.codonCoord_3=1042;refseq.end_1=33246655;refseq.end_2=33246655;refseq.end_3=33246655;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3291;refseq.mrnaCoord_2=3612;refseq.mrnaCoord_3=3354;refseq.name2_1=COL11A2;refseq.name2_2=COL11A2;refseq.name2_3=COL11A2;refseq.name_1=NM_080679;refseq.name_2=NM_080680;refseq.name_3=NM_080681;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1021P;refseq.proteinCoordStr_2=p.P1128P;refseq.proteinCoordStr_3=p.P1042P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=33246655;refseq.start_2=33246655;refseq.start_3=33246655;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr6 33247306 . C T 148.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=4.91;MQ=98.47;MQ0=0;OQ=1912.71;QD=14.49;RankSumP=0.479736;SB=-596.56;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2853G>A;refseq.codingCoordStr_2=c.3174G>A;refseq.codingCoordStr_3=c.2916G>A;refseq.codonCoord_1=951;refseq.codonCoord_2=1058;refseq.codonCoord_3=972;refseq.end_1=33247306;refseq.end_2=33247306;refseq.end_3=33247306;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3081;refseq.mrnaCoord_2=3402;refseq.mrnaCoord_3=3144;refseq.name2_1=COL11A2;refseq.name2_2=COL11A2;refseq.name2_3=COL11A2;refseq.name_1=NM_080679;refseq.name_2=NM_080680;refseq.name_3=NM_080681;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P951P;refseq.proteinCoordStr_2=p.P1058P;refseq.proteinCoordStr_3=p.P972P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=33247306;refseq.start_2=33247306;refseq.start_3=33247306;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr6 33249139 . A G 175.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=10.16;MQ=98.23;MQ0=0;OQ=2488.01;QD=15.65;RankSumP=0.233378;SB=-1135.63;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2379T>C;refseq.codingCoordStr_2=c.2700T>C;refseq.codingCoordStr_3=c.2442T>C;refseq.codonCoord_1=793;refseq.codonCoord_2=900;refseq.codonCoord_3=814;refseq.end_1=33249139;refseq.end_2=33249139;refseq.end_3=33249139;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2607;refseq.mrnaCoord_2=2928;refseq.mrnaCoord_3=2670;refseq.name2_1=COL11A2;refseq.name2_2=COL11A2;refseq.name2_3=COL11A2;refseq.name_1=NM_080679;refseq.name_2=NM_080680;refseq.name_3=NM_080681;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D793D;refseq.proteinCoordStr_2=p.D900D;refseq.proteinCoordStr_3=p.D814D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=33249139;refseq.start_2=33249139;refseq.start_3=33249139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 0/1 chr6 33261506 . C T 130.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=98.72;MQ0=0;OQ=7092.38;QD=18.81;RankSumP=0.344444;SB=-2754.41;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.826G>A;refseq.codonCoord_3=276;refseq.end_1=33262371;refseq.end_2=33262371;refseq.end_3=33261506;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1054;refseq.name2_1=COL11A2;refseq.name2_2=COL11A2;refseq.name2_3=COL11A2;refseq.name_1=NM_080679;refseq.name_2=NM_080681;refseq.name_3=NM_080680;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E276K;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAG;refseq.spliceDist_3=28;refseq.start_1=33256936;refseq.start_2=33260820;refseq.start_3=33261506;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAG;set=Intersection GT 0/1 chr6 33271429 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.50;MQ0=0;OQ=2190.01;QD=15.53;RankSumP=0.344411;SB=-595.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1152C>T;refseq.codonCoord=384;refseq.end=33271429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_021976;refseq.name2=RXRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.F384F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=29;refseq.start=33271429;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr6 33277873 . C G 287.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=8.03;MQ=98.61;MQ0=0;OQ=7203.62;QD=22.94;RankSumP=0.289816;SB=-2029.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.627C>G;refseq.codingCoordStr_2=c.627C>G;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.end_1=33277873;refseq.end_2=33277873;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=744;refseq.mrnaCoord_2=1047;refseq.name2_1=SLC39A7;refseq.name2_2=SLC39A7;refseq.name_1=NM_001077516;refseq.name_2=NM_006979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S209S;refseq.proteinCoordStr_2=p.S209S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=33277873;refseq.start_2=33277873;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr6 33343733 . G A 263.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.70;MQ0=0;OQ=5555.93;QD=20.35;RankSumP=0.0872166;SB=-2112.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.820C>T;refseq.codonCoord=274;refseq.end=33343733;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_022553;refseq.name2=VPS52;refseq.positionType=CDS;refseq.proteinCoordStr=p.L274L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=20;refseq.start=33343733;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr6 33345562 . G C 21 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00323649;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.241C>G;refseq.codonCoord=81;refseq.end=33345562;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_022553;refseq.name2=VPS52;refseq.positionType=CDS;refseq.proteinCoordStr=p.R81G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=13;refseq.start=33345562;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr6 33364449 . T C 328.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=98.76;MQ0=0;OQ=5860.33;QD=40.98;RankSumP=1.00000;SB=-1708.03;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.118A>G;refseq.codingCoordStr_2=c.280A>G;refseq.codonCoord_1=40;refseq.codonCoord_2=94;refseq.end_1=33364449;refseq.end_2=33364449;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=475;refseq.mrnaCoord_2=637;refseq.name2_1=WDR46;refseq.name2_2=WDR46;refseq.name_1=NM_001164267;refseq.name_2=NM_005452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T40A;refseq.proteinCoordStr_2=p.T94A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=33364449;refseq.start_2=33364449;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr6 33380791 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.821A>C;refseq.codingCoordStr_2=c.821A>C;refseq.codingCoordStr_3=c.560A>C;refseq.codonCoord_1=274;refseq.codonCoord_2=274;refseq.codonCoord_3=187;refseq.end_1=33380791;refseq.end_2=33380791;refseq.end_3=33380791;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1167;refseq.mrnaCoord_2=1167;refseq.mrnaCoord_3=906;refseq.name2_1=TAPBP;refseq.name2_2=TAPBP;refseq.name2_3=TAPBP;refseq.name_1=NM_003190;refseq.name_2=NM_172208;refseq.name_3=NM_172209;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H274P;refseq.proteinCoordStr_2=p.H274P;refseq.proteinCoordStr_3=p.H187P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=33380791;refseq.start_2=33380791;refseq.start_3=33380791;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr6 33380833 . G C 134.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=15.04;MQ=97.48;MQ0=0;OQ=2164.89;QD=13.70;RankSumP=0.420457;SB=-1056.54;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.779C>G;refseq.codingCoordStr_2=c.779C>G;refseq.codingCoordStr_3=c.518C>G;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.codonCoord_3=173;refseq.end_1=33380833;refseq.end_2=33380833;refseq.end_3=33380833;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1125;refseq.mrnaCoord_2=1125;refseq.mrnaCoord_3=864;refseq.name2_1=TAPBP;refseq.name2_2=TAPBP;refseq.name2_3=TAPBP;refseq.name_1=NM_003190;refseq.name_2=NM_172208;refseq.name_3=NM_172209;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T260R;refseq.proteinCoordStr_2=p.T260R;refseq.proteinCoordStr_3=p.T173R;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.start_1=33380833;refseq.start_2=33380833;refseq.start_3=33380833;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr6 33391744 . T C 304.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.77;MQ0=0;OQ=8310.73;QD=20.12;RankSumP=0.122503;SB=-3367.87;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.928A>G;refseq.codingCoordStr_2=c.928A>G;refseq.codonCoord_1=310;refseq.codonCoord_2=310;refseq.end_1=33391744;refseq.end_2=33391744;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1062;refseq.mrnaCoord_2=1080;refseq.name2_1=ZBTB22;refseq.name2_2=ZBTB22;refseq.name_1=NM_001145338;refseq.name_2=NM_005453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T310A;refseq.proteinCoordStr_2=p.T310A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=997;refseq.spliceDist_2=997;refseq.start_1=33391744;refseq.start_2=33391744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr6 33396249 . A G 205.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=19.20;MQ=98.66;MQ0=0;OQ=5853.78;QD=17.47;RankSumP=0.356190;SB=-2328.12;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.1137T>C;refseq.codingCoordStr_3=c.1173T>C;refseq.codingCoordStr_4=c.1137T>C;refseq.codonCoord_2=379;refseq.codonCoord_3=391;refseq.codonCoord_4=379;refseq.end_1=33396249;refseq.end_2=33396249;refseq.end_3=33396249;refseq.end_4=33396249;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1085;refseq.mrnaCoord_2=1344;refseq.mrnaCoord_3=1275;refseq.mrnaCoord_4=1341;refseq.name2_1=DAXX;refseq.name2_2=DAXX;refseq.name2_3=DAXX;refseq.name2_4=DAXX;refseq.name_1=NR_024517;refseq.name_2=NM_001141969;refseq.name_3=NM_001141970;refseq.name_4=NM_001350;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y379Y;refseq.proteinCoordStr_3=p.Y391Y;refseq.proteinCoordStr_4=p.Y379Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.spliceDist_4=98;refseq.start_1=33396249;refseq.start_2=33396249;refseq.start_3=33396249;refseq.start_4=33396249;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 0/1 chr6 33490266 . G A 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=362.97;QD=30.25;RankSumP=1.00000;SB=-148.01;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.911G>A;refseq.codingCoordStr_3=c.911G>A;refseq.codonCoord_2=304;refseq.codonCoord_3=304;refseq.end_1=33490266;refseq.end_2=33490266;refseq.end_3=33490266;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1147;refseq.mrnaCoord_2=1147;refseq.mrnaCoord_3=1147;refseq.name2_1=PHF1;refseq.name2_2=PHF1;refseq.name2_3=PHF1;refseq.name_1=NR_027692;refseq.name_2=NM_002636;refseq.name_3=NM_024165;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R304K;refseq.proteinCoordStr_3=p.R304K;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=33490266;refseq.start_2=33490266;refseq.start_3=33490266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr6 33516520 . G A 176.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=96.05;MQ0=0;OQ=621.31;QD=15.15;RankSumP=0.618052;SB=-185.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1713G>A;refseq.codonCoord=571;refseq.end=33516520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1908;refseq.name=NM_006772;refseq.name2=SYNGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S571S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=37;refseq.start=33516520;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr6 33518661 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2354G>C;refseq.codonCoord=785;refseq.end=33518661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2549;refseq.name=NM_006772;refseq.name2=SYNGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R785P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=18;refseq.start=33518661;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 33518664 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2357T>C;refseq.codonCoord=786;refseq.end=33518664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2552;refseq.name=NM_006772;refseq.name2=SYNGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L786P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=21;refseq.start=33518664;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 33518669 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2362T>C;refseq.codonCoord=788;refseq.end=33518669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2557;refseq.name=NM_006772;refseq.name2=SYNGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S788P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=26;refseq.start=33518669;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 33530954 . T G 161.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=97.87;MQ0=0;OQ=2602.22;QD=24.55;RankSumP=1.00000;SB=-855.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.99T>G;refseq.codonCoord=33;refseq.end=33530954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_152735;refseq.name2=ZBTB9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S33S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=170;refseq.start=33530954;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr6 33531178 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=5.19847e-05;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.323T>C;refseq.codonCoord=108;refseq.end=33531178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_152735;refseq.name2=ZBTB9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L108P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=394;refseq.start=33531178;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 33531181 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00592142;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.326G>C;refseq.codonCoord=109;refseq.end=33531181;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_152735;refseq.name2=ZBTB9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R109P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=397;refseq.start=33531181;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 33668874 . A G 15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=11;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=97.43;MQ0=0;OQ=178.76;QD=16.25;RankSumP=1.00000;SB=-47.69;SecondBestBaseQ=0;refseq.chr=chr6;refseq.end=33668874;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=220;refseq.name=NR_027908;refseq.name2=C6orf227;refseq.positionType=non_coding_exon;refseq.spliceDist=-123;refseq.start=33668874;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 1/1 chr6 33742948 . A G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1616A>G;refseq.codonCoord=539;refseq.end=33742948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1835;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E539G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=65;refseq.start=33742948;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 33744885 . C T 343.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.64;MQ0=0;OQ=2216.37;QD=35.75;RankSumP=1.00000;SB=-506.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2163C>T;refseq.codonCoord=721;refseq.end=33744885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2382;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H721H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-27;refseq.start=33744885;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr6 33746115 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2225A>C;refseq.codonCoord=742;refseq.end=33746115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2444;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D742A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=36;refseq.start=33746115;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 33746158 . C T 437.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=97.57;MQ0=0;OQ=4928.75;QD=40.07;RankSumP=1.00000;SB=-1273.71;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2268C>T;refseq.codonCoord=756;refseq.end=33746158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2487;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G756G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=79;refseq.start=33746158;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr6 33749357 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=951;Dels=0.00;HRun=0;HaplotypeScore=14.74;MQ=98.78;MQ0=0;OQ=36549.74;QD=38.43;RankSumP=1.00000;SB=-15852.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2940T>C;refseq.codonCoord=980;refseq.end=33749357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3159;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N980N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=12;refseq.start=33749357;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/1 chr6 33756206 . C T 348.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=11.30;MQ=98.45;MQ0=0;OQ=5118.50;QD=19.10;RankSumP=0.292603;SB=-1872.15;SecondBestBaseQ=31;refseq.chr=chr6;refseq.codingCoordStr=c.4345+2;refseq.end=33756206;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=33756206;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr6 33761426 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=4.88;MQ=98.91;MQ0=0;OQ=1117.65;QD=13.15;RankSumP=0.436943;SB=-99.91;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5511C>T;refseq.codonCoord=1837;refseq.end=33761426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5730;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1837G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=29;refseq.start=33761426;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 33764174 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.6556C>G;refseq.codonCoord=2186;refseq.end=33764174;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6775;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2186G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-13;refseq.start=33764174;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 33767450 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=98.77;MQ0=0;OQ=2011.55;QD=15.24;RankSumP=0.308746;SB=-815.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.7306C>G;refseq.codonCoord=2436;refseq.end=33767450;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7525;refseq.name=NM_002224;refseq.name2=ITPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2436V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-25;refseq.start=33767450;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr6 33798774 . C T 200.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=650.48;QD=17.12;RankSumP=0.292067;SB=-326.82;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.934G>A;refseq.codingCoordStr_2=c.934G>A;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=33798774;refseq.end_2=33798774;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1470;refseq.mrnaCoord_2=1341;refseq.name2_1=IP6K3;refseq.name2_2=IP6K3;refseq.name_1=NM_001142883;refseq.name_2=NM_054111;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V312I;refseq.proteinCoordStr_2=p.V312I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=169;refseq.spliceDist_2=169;refseq.start_1=33798774;refseq.start_2=33798774;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr6 33798775 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=688.25;QD=17.65;RankSumP=0.297197;SB=-351.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.933T>C;refseq.codingCoordStr_2=c.933T>C;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=33798775;refseq.end_2=33798775;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1469;refseq.mrnaCoord_2=1340;refseq.name2_1=IP6K3;refseq.name2_2=IP6K3;refseq.name_1=NM_001142883;refseq.name_2=NM_054111;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S311S;refseq.proteinCoordStr_2=p.S311S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.start_1=33798775;refseq.start_2=33798775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr6 33811208 . G A 304.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.50;MQ0=0;OQ=1983.32;QD=17.25;RankSumP=0.374410;SB=-848.98;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.24C>T;refseq.codingCoordStr_2=c.24C>T;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=33811208;refseq.end_2=33811208;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=560;refseq.mrnaCoord_2=431;refseq.name2_1=IP6K3;refseq.name2_2=IP6K3;refseq.name_1=NM_001142883;refseq.name_2=NM_054111;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D8D;refseq.proteinCoordStr_2=p.D8D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-176;refseq.spliceDist_2=-176;refseq.start_1=33811208;refseq.start_2=33811208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr6 33876875 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=15.78;MQ=98.25;MQ0=0;OQ=4076.81;QD=25.48;RankSumP=1.00000;SB=-687.89;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.44T>C;refseq.codingCoordStr_2=c.44T>C;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=33876875;refseq.end_2=33876875;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=115;refseq.mrnaCoord_2=115;refseq.name2_1=MLN;refseq.name2_2=MLN;refseq.name_1=NM_001040109;refseq.name_2=NM_002418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V15A;refseq.proteinCoordStr_2=p.V15A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=33876875;refseq.start_2=33876875;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 34167808 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.566A>C;refseq.codonCoord=189;refseq.end=34167808;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_000841;refseq.name2=GRM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N189T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=47;refseq.start=34167808;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 34322300 . C G 312.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.41;MQ0=0;OQ=1501.77;QD=41.72;RankSumP=1.00000;SB=-428.61;SecondBestBaseQ=35;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.449G>C;refseq.codingCoordStr_2=c.449G>C;refseq.codingCoordStr_3=c.449G>C;refseq.codonCoord_1=150;refseq.codonCoord_2=150;refseq.codonCoord_3=150;refseq.end_1=34322300;refseq.end_2=34322300;refseq.end_3=34322300;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=789;refseq.mrnaCoord_2=729;refseq.mrnaCoord_3=1041;refseq.name2_1=C6orf1;refseq.name2_2=C6orf1;refseq.name2_3=C6orf1;refseq.name_1=NM_001008703;refseq.name_2=NM_001008704;refseq.name_3=NM_178508;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G150A;refseq.proteinCoordStr_2=p.G150A;refseq.proteinCoordStr_3=p.G150A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=-166;refseq.spliceDist_2=-166;refseq.spliceDist_3=-166;refseq.start_1=34322300;refseq.start_2=34322300;refseq.start_3=34322300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr6 34616868 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.505C>G;refseq.codonCoord=169;refseq.end=34616868;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_012391;refseq.name2=SPDEF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P169A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=69;refseq.start=34616868;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 35057585 . C T 329.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.81;MQ0=0;OQ=9498.21;QD=40.76;RankSumP=1.00000;SB=-4682.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.576C>T;refseq.codonCoord=192;refseq.end=35057585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=718;refseq.name=NM_015245;refseq.name2=ANKS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y192Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=141;refseq.start=35057585;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr6 35093531 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1727A>C;refseq.codonCoord=576;refseq.end=35093531;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1869;refseq.name=NM_015245;refseq.name2=ANKS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N576T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-284;refseq.start=35093531;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 35135905 . T C 428.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.53;MQ0=0;OQ=4149.34;QD=40.28;RankSumP=1.00000;SB=-1317.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2081T>C;refseq.codonCoord=694;refseq.end=35135905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2223;refseq.name=NM_015245;refseq.name2=ANKS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L694S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=35135905;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr6 35135941 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2117A>G;refseq.codonCoord=706;refseq.end=35135941;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2259;refseq.name=NM_015245;refseq.name2=ANKS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E706G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=40;refseq.start=35135941;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 35158484 . G A 136.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=11.26;MQ=98.85;MQ0=0;OQ=4447.44;QD=20.88;RankSumP=0.0484958;SB=-1840.54;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2748G>A;refseq.codonCoord=916;refseq.end=35158484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2890;refseq.name=NM_015245;refseq.name2=ANKS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P916P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=39;refseq.start=35158484;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr6 35196359 . C G 235.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=98.57;MQ0=0;OQ=4859.99;QD=23.48;RankSumP=0.239521;SB=-1518.53;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.797G>C;refseq.codingCoordStr_2=c.572G>C;refseq.codonCoord_1=266;refseq.codonCoord_2=191;refseq.end_1=35196359;refseq.end_2=35196359;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=1072;refseq.name2_1=TCP11;refseq.name2_2=TCP11;refseq.name_1=NM_001093728;refseq.name_2=NM_018679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G266A;refseq.proteinCoordStr_2=p.G191A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=35196359;refseq.start_2=35196359;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr6 35198075 . T C 320.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=5.07;MQ=98.72;MQ0=0;OQ=4328.31;QD=19.41;RankSumP=0.157210;SB=-1010.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.414A>G;refseq.codingCoordStr_2=c.189A>G;refseq.codonCoord_1=138;refseq.codonCoord_2=63;refseq.end_1=35198075;refseq.end_2=35198075;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=595;refseq.mrnaCoord_2=689;refseq.name2_1=TCP11;refseq.name2_2=TCP11;refseq.name_1=NM_001093728;refseq.name_2=NM_018679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L138L;refseq.proteinCoordStr_2=p.L63L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=35198075;refseq.start_2=35198075;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr6 35368481 . C T 132 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.30;MQ0=0;OQ=1207.74;QD=12.99;RankSumP=0.430248;SB=-363.34;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1104C>T;refseq.codonCoord=368;refseq.end=35368481;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1309;refseq.name=NM_003427;refseq.name2=ZNF76;refseq.positionType=CDS;refseq.proteinCoordStr=p.H368H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-62;refseq.start=35368481;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 35368508 . C T 223.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=97.99;MQ0=0;OQ=1306.14;QD=16.75;RankSumP=0.0504223;SB=-339.36;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=35368508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1336;refseq.name=NM_003427;refseq.name2=ZNF76;refseq.positionType=CDS;refseq.proteinCoordStr=p.S377S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-35;refseq.start=35368508;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr6 35393698 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=6.96;MQ=98.47;MQ0=0;OQ=2394.68;QD=14.34;RankSumP=0.172713;SB=-1015.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.860A>C;refseq.codonCoord=287;refseq.end=35393698;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_022047;refseq.name2=DEF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N287T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=53;refseq.start=35393698;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 35499765 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=7.36;MQ=98.17;MQ0=0;OQ=1034.59;QD=9.58;RankSumP=0.136590;SB=-542.04;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.489C>T;refseq.codingCoordStr_2=c.372C>T;refseq.codingCoordStr_3=c.195C>T;refseq.codingCoordStr_4=c.489C>T;refseq.codingCoordStr_5=c.489C>T;refseq.codonCoord_1=163;refseq.codonCoord_2=124;refseq.codonCoord_3=65;refseq.codonCoord_4=163;refseq.codonCoord_5=163;refseq.end_1=35499765;refseq.end_2=35499765;refseq.end_3=35499765;refseq.end_4=35499765;refseq.end_5=35499765;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=894;refseq.mrnaCoord_2=567;refseq.mrnaCoord_3=504;refseq.mrnaCoord_4=798;refseq.mrnaCoord_5=798;refseq.name2_1=PPARD;refseq.name2_2=PPARD;refseq.name2_3=PPARD;refseq.name2_4=PPARD;refseq.name2_5=PPARD;refseq.name_1=NM_001171818;refseq.name_2=NM_001171819;refseq.name_3=NM_001171820;refseq.name_4=NM_006238;refseq.name_5=NM_177435;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N163N;refseq.proteinCoordStr_2=p.N124N;refseq.proteinCoordStr_3=p.N65N;refseq.proteinCoordStr_4=p.N163N;refseq.proteinCoordStr_5=p.N163N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.spliceDist_4=65;refseq.spliceDist_5=65;refseq.start_1=35499765;refseq.start_2=35499765;refseq.start_3=35499765;refseq.start_4=35499765;refseq.start_5=35499765;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 0/1 chr6 35531640 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=87;Dels=0.00;HRun=3;HaplotypeScore=1.16;MQ=98.88;MQ0=0;OQ=1360.17;QD=15.63;RankSumP=0.172218;SB=-653.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.387A>C;refseq.codonCoord=129;refseq.end=35531640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_021922;refseq.name2=FANCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P129P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=139;refseq.start=35531640;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr6 35536375 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr6;refseq.codingCoordStr=c.1383+2;refseq.end=35536375;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_021922;refseq.name2=FANCE;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=35536375;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 35585003 . C G 267.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=15.83;MQ=98.63;MQ0=0;OQ=8713.82;QD=20.41;RankSumP=0.490252;SB=-1996.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.783G>C;refseq.codonCoord=261;refseq.end=35585003;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_003322;refseq.name2=TULP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K261N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-40;refseq.start=35585003;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr6 35585010 . A G 264.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=15.25;MQ=98.63;MQ0=0;OQ=7781.32;QD=16.59;RankSumP=0.230079;SB=-1840.68;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.776T>C;refseq.codonCoord=259;refseq.end=35585010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_003322;refseq.name2=TULP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I259T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-47;refseq.start=35585010;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 35587552 . G C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=18;Dels=0.00;HRun=4;HaplotypeScore=0.48;MQ=95.57;MQ0=0;OQ=309.56;QD=17.20;RankSumP=0.705020;SB=-137.72;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.200C>G;refseq.codonCoord=67;refseq.end=35587552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_003322;refseq.name2=TULP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T67R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=35587552;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr6 35695935 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.345G>C;refseq.codingCoordStr_2=c.345G>C;refseq.codingCoordStr_3=c.345G>C;refseq.codingCoordStr_4=c.345G>C;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.codonCoord_3=115;refseq.codonCoord_4=115;refseq.end_1=35695935;refseq.end_2=35695935;refseq.end_3=35695935;refseq.end_4=35695935;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=661;refseq.mrnaCoord_2=548;refseq.mrnaCoord_3=503;refseq.mrnaCoord_4=503;refseq.name2_1=FKBP5;refseq.name2_2=FKBP5;refseq.name2_3=FKBP5;refseq.name2_4=FKBP5;refseq.name_1=NM_001145775;refseq.name_2=NM_001145776;refseq.name_3=NM_001145777;refseq.name_4=NM_004117;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S115S;refseq.proteinCoordStr_2=p.S115S;refseq.proteinCoordStr_3=p.S115S;refseq.proteinCoordStr_4=p.S115S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.start_1=35695935;refseq.start_2=35695935;refseq.start_3=35695935;refseq.start_4=35695935;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 1/0 chr6 35718537 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.43A>C;refseq.codingCoordStr_2=c.43A>C;refseq.codingCoordStr_3=c.43A>C;refseq.codingCoordStr_4=c.43A>C;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.codonCoord_4=15;refseq.end_1=35718537;refseq.end_2=35718537;refseq.end_3=35718537;refseq.end_4=35718537;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=246;refseq.mrnaCoord_3=201;refseq.mrnaCoord_4=201;refseq.name2_1=FKBP5;refseq.name2_2=FKBP5;refseq.name2_3=FKBP5;refseq.name2_4=FKBP5;refseq.name_1=NM_001145775;refseq.name_2=NM_001145776;refseq.name_3=NM_001145777;refseq.name_4=NM_004117;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T15P;refseq.proteinCoordStr_2=p.T15P;refseq.proteinCoordStr_3=p.T15P;refseq.proteinCoordStr_4=p.T15P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.spliceDist_4=62;refseq.start_1=35718537;refseq.start_2=35718537;refseq.start_3=35718537;refseq.start_4=35718537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr6 35813870 . T C 145.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=1553.94;QD=18.72;RankSumP=0.308340;SB=-673.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.333T>C;refseq.codonCoord=111;refseq.end=35813870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_145028;refseq.name2=C6orf81;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y111Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-58;refseq.start=35813870;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr6 35863636 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.77;MQ0=0;OQ=2894.94;QD=9.88;RankSumP=0.264787;SB=-1169.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.237A>G;refseq.codonCoord=79;refseq.end=35863636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_001010886;refseq.name2=C6orf127;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q79Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=15;refseq.start=35863636;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr6 35890499 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.611A>G;refseq.codonCoord=204;refseq.end=35890499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_182548;refseq.name2=LHFPL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D204G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-39;refseq.start=35890499;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr6 36031224 . T C 355.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=98.96;MQ0=0;OQ=6652.13;QD=18.08;RankSumP=0.454356;SB=-1684.40;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1915A>G;refseq.codingCoordStr_2=c.1600A>G;refseq.codonCoord_1=639;refseq.codonCoord_2=534;refseq.end_1=36031224;refseq.end_2=36031224;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2014;refseq.mrnaCoord_2=1766;refseq.name2_1=SLC26A8;refseq.name2_2=SLC26A8;refseq.name_1=NM_052961;refseq.name_2=NM_138718;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I639V;refseq.proteinCoordStr_2=p.I534V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=36031224;refseq.start_2=36031224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr6 36038314 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=5.42904e-09;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1428A>C;refseq.codingCoordStr_2=c.1113A>C;refseq.codonCoord_1=476;refseq.codonCoord_2=371;refseq.end_1=36038314;refseq.end_2=36038314;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1527;refseq.mrnaCoord_2=1279;refseq.name2_1=SLC26A8;refseq.name2_2=SLC26A8;refseq.name_1=NM_052961;refseq.name_2=NM_138718;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L476L;refseq.proteinCoordStr_2=p.L371L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=36038314;refseq.start_2=36038314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr6 36038362 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1380T>G;refseq.codingCoordStr_2=c.1065T>G;refseq.codonCoord_1=460;refseq.codonCoord_2=355;refseq.end_1=36038362;refseq.end_2=36038362;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1479;refseq.mrnaCoord_2=1231;refseq.name2_1=SLC26A8;refseq.name2_2=SLC26A8;refseq.name_1=NM_052961;refseq.name_2=NM_138718;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G460G;refseq.proteinCoordStr_2=p.G355G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=36038362;refseq.start_2=36038362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr6 36280489 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1525T>G;refseq.codonCoord=509;refseq.end=36280489;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1749;refseq.name=NM_015695;refseq.name2=BRPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L509V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=77;refseq.start=36280489;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr6 36290029 . T C 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.00470623;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2877T>C;refseq.codonCoord=959;refseq.end=36290029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3101;refseq.name=NM_015695;refseq.name2=BRPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S959S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-113;refseq.start=36290029;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr6 36377905 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.807A>C;refseq.codingCoordStr_2=c.1065A>C;refseq.codingCoordStr_3=c.780A>C;refseq.codonCoord_1=269;refseq.codonCoord_2=355;refseq.codonCoord_3=260;refseq.end_1=36377905;refseq.end_2=36377905;refseq.end_3=36377905;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=946;refseq.mrnaCoord_2=1065;refseq.mrnaCoord_3=954;refseq.name2_1=PNPLA1;refseq.name2_2=PNPLA1;refseq.name2_3=PNPLA1;refseq.name_1=NM_001145716;refseq.name_2=NM_001145717;refseq.name_3=NM_173676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A269A;refseq.proteinCoordStr_2=p.A355A;refseq.proteinCoordStr_3=p.A260A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=290;refseq.spliceDist_2=290;refseq.spliceDist_3=290;refseq.start_1=36377905;refseq.start_2=36377905;refseq.start_3=36377905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr6 36378108 . C A 113.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=3.76;MQ=98.42;MQ0=0;OQ=3154.78;QD=11.95;RankSumP=0.0821225;SB=-1212.53;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1010C>A;refseq.codingCoordStr_2=c.1268C>A;refseq.codingCoordStr_3=c.983C>A;refseq.codonCoord_1=337;refseq.codonCoord_2=423;refseq.codonCoord_3=328;refseq.end_1=36378108;refseq.end_2=36378108;refseq.end_3=36378108;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1149;refseq.mrnaCoord_2=1268;refseq.mrnaCoord_3=1157;refseq.name2_1=PNPLA1;refseq.name2_2=PNPLA1;refseq.name2_3=PNPLA1;refseq.name_1=NM_001145716;refseq.name_2=NM_001145717;refseq.name_3=NM_173676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P337H;refseq.proteinCoordStr_2=p.P423H;refseq.proteinCoordStr_3=p.P328H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-117;refseq.spliceDist_2=-117;refseq.spliceDist_3=-117;refseq.start_1=36378108;refseq.start_2=36378108;refseq.start_3=36378108;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr6 36382131 . C T 308.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=593;Dels=0.00;HRun=0;HaplotypeScore=11.81;MQ=98.73;MQ0=0;OQ=11655.33;QD=19.65;RankSumP=0.187256;SB=-3301.66;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1211C>T;refseq.codingCoordStr_2=c.1469C>T;refseq.codingCoordStr_3=c.1184C>T;refseq.codonCoord_1=404;refseq.codonCoord_2=490;refseq.codonCoord_3=395;refseq.end_1=36382131;refseq.end_2=36382131;refseq.end_3=36382131;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1350;refseq.mrnaCoord_2=1469;refseq.mrnaCoord_3=1358;refseq.name2_1=PNPLA1;refseq.name2_2=PNPLA1;refseq.name2_3=PNPLA1;refseq.name_1=NM_001145716;refseq.name_2=NM_001145717;refseq.name_3=NM_173676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T404M;refseq.proteinCoordStr_2=p.T490M;refseq.proteinCoordStr_3=p.T395M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.start_1=36382131;refseq.start_2=36382131;refseq.start_3=36382131;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr6 36383436 . T C 268.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2325.24;QD=40.79;RankSumP=1.00000;SB=-711.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1306T>C;refseq.codingCoordStr_2=c.1564T>C;refseq.codingCoordStr_3=c.1279T>C;refseq.codonCoord_1=436;refseq.codonCoord_2=522;refseq.codonCoord_3=427;refseq.end_1=36383436;refseq.end_2=36383436;refseq.end_3=36383436;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1445;refseq.mrnaCoord_2=1564;refseq.mrnaCoord_3=1453;refseq.name2_1=PNPLA1;refseq.name2_2=PNPLA1;refseq.name2_3=PNPLA1;refseq.name_1=NM_001145716;refseq.name_2=NM_001145717;refseq.name_3=NM_173676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S436P;refseq.proteinCoordStr_2=p.S522P;refseq.proteinCoordStr_3=p.S427P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.spliceDist_3=95;refseq.start_1=36383436;refseq.start_2=36383436;refseq.start_3=36383436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr6 36395118 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1916A>C;refseq.codonCoord=639;refseq.end=36395118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2094;refseq.name=NM_001010903;refseq.name2=C6orf222;refseq.positionType=CDS;refseq.proteinCoordStr=p.D639A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=36395118;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr6 36395290 . G C 274.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.49;MQ0=0;OQ=6487.15;QD=42.12;RankSumP=1.00000;SB=-3069.76;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1744C>G;refseq.codonCoord=582;refseq.end=36395290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1922;refseq.name=NM_001010903;refseq.name2=C6orf222;refseq.positionType=CDS;refseq.proteinCoordStr=p.L582V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=76;refseq.start=36395290;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr6 36402842 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=489;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=98.73;MQ0=0;OQ=10311.52;QD=21.09;RankSumP=0.355571;SB=-4012.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.735T>C;refseq.codonCoord=245;refseq.end=36402842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_001010903;refseq.name2=C6orf222;refseq.positionType=CDS;refseq.proteinCoordStr=p.A245A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=36402842;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr6 36449272 . C T 154.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=423.35;QD=16.93;RankSumP=0.349677;SB=-79.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.369G>A;refseq.codonCoord=123;refseq.end=36449272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_016135;refseq.name2=ETV7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G123G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=62;refseq.start=36449272;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr6 36545899 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.47A>G;refseq.codonCoord=16;refseq.end=36545899;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_173562;refseq.name2=KCTD20;refseq.positionType=CDS;refseq.proteinCoordStr=p.E16G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=93;refseq.start=36545899;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 36597563 . C A 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=145;Dels=0.00;HRun=2;HaplotypeScore=12.08;MQ=97.84;MQ0=0;OQ=264.84;QD=1.83;RankSumP=0.00000;SB=128.46;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.316G>T;refseq.codonCoord=106;refseq.end=36597563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_007271;refseq.name2=STK38;refseq.positionType=CDS;refseq.proteinCoordStr=p.V106F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=36597563;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr6 36677715 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=19;RankSumP=1.31154e-07;SecondBestBaseQ=11;refseq.chr=chr6;refseq.codingCoordStr=c.468-2;refseq.end=36677715;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_003017;refseq.name2=SFRS3;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=36677715;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr6 36821241 . A G 196.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.83;MQ0=0;OQ=810.67;QD=16.21;RankSumP=0.448702;SB=-227.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1230T>C;refseq.codonCoord=410;refseq.end=36821241;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_020939;refseq.name2=CPNE5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C410C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=30;refseq.start=36821241;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr6 36841110 . G A 224.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=15.92;MQ=98.64;MQ0=0;OQ=4829.82;QD=15.68;RankSumP=0.0421381;SB=-1775.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=36841110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_020939;refseq.name2=CPNE5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y253Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-21;refseq.start=36841110;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 36932377 . C T 229.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=4.75;MQ=98.71;MQ0=0;OQ=6048.30;QD=21.45;RankSumP=0.373595;SB=-2352.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=36932377;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_016059;refseq.name2=PPIL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q81Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=32;refseq.start=36932377;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr6 36992255 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.773A>C;refseq.codonCoord=258;refseq.end=36992255;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_152734;refseq.name2=C6orf89;refseq.positionType=CDS;refseq.proteinCoordStr=p.H258P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=57;refseq.start=36992255;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 37030662 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.63;MQ0=0;OQ=913.25;QD=8.23;RankSumP=0.126349;SB=-481.48;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.148A>C;refseq.codonCoord=50;refseq.end=37030662;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_153370;refseq.name2=PI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T50P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-24;refseq.start=37030662;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr6 37037237 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.426T>G;refseq.codonCoord=142;refseq.end=37037237;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_153370;refseq.name2=PI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.C142W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=33;refseq.start=37037237;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr6 37039140 . A G 123.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=99.00;MQ0=0;OQ=1076.13;QD=12.97;RankSumP=0.474422;SB=-499.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1044A>G;refseq.codonCoord=348;refseq.end=37039140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1372;refseq.name=NM_153370;refseq.name2=PI16;refseq.positionType=CDS;refseq.proteinCoordStr=p.E348E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-227;refseq.start=37039140;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr6 37103766 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1817A>C;refseq.codonCoord=606;refseq.end=37103766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1988;refseq.name=NM_173558;refseq.name2=FGD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D606A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=65;refseq.start=37103766;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 37103879 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.0567365;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1930A>G;refseq.codonCoord=644;refseq.end=37103879;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2101;refseq.name=NM_173558;refseq.name2=FGD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S644G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=178;refseq.start=37103879;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr6 37358090 . A G 431.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.48;MQ0=0;OQ=2767.02;QD=39.53;RankSumP=1.00000;SB=-1387.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.573A>G;refseq.codonCoord=191;refseq.end=37358090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_017772;refseq.name2=TBC1D22B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q191Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-29;refseq.start=37358090;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr6 37360188 . C T 292.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.97;MQ0=0;OQ=12047.68;QD=40.29;RankSumP=1.00000;SB=-5779.56;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.771C>T;refseq.codonCoord=257;refseq.end=37360188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_017772;refseq.name2=TBC1D22B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N257N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-31;refseq.start=37360188;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 37444498 . A T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.127553;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.501A>T;refseq.codingCoordStr_2=c.501A>T;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.end_1=37444498;refseq.end_2=37444498;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=694;refseq.mrnaCoord_2=694;refseq.name2_1=RNF8;refseq.name2_2=RNF8;refseq.name_1=NM_003958;refseq.name_2=NM_183078;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E167D;refseq.proteinCoordStr_2=p.E167D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=261;refseq.spliceDist_2=261;refseq.start_1=37444498;refseq.start_2=37444498;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 0/1 chr6 37457011 . G A 293.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=99.00;MQ0=0;OQ=3923.10;QD=20.54;RankSumP=0.499494;SB=-994.46;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1344G>A;refseq.codonCoord_2=448;refseq.end_1=37466485;refseq.end_2=37457011;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1537;refseq.name2_1=RNF8;refseq.name2_2=RNF8;refseq.name_1=NM_183078;refseq.name_2=NM_003958;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T448T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=-98;refseq.start_1=37452798;refseq.start_2=37457011;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr6 38758606 . T G 200.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=12.45;MQ=98.84;MQ0=0;OQ=8649.48;QD=21.57;RankSumP=0.428336;SB=-3129.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.332A>C;refseq.codonCoord=111;refseq.end=38758606;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_006708;refseq.name2=GLO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E111A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=24;refseq.start=38758606;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr6 38837489 . T C 159.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.90;MQ0=0;OQ=6669.24;QD=23.82;RankSumP=0.470000;SB=-2377.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.898T>C;refseq.codonCoord=300;refseq.end=38837489;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y300H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=34;refseq.start=38837489;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 38854154 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=98.86;MQ0=0;OQ=1651.73;QD=17.21;RankSumP=0.419981;SB=-62.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1324G>A;refseq.codonCoord=442;refseq.end=38854154;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1924;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A442T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=13;refseq.start=38854154;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr6 38881271 . G A 153.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.80;MQ0=0;OQ=2670.99;QD=13.77;RankSumP=0.486271;SB=-1087.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2420G>A;refseq.codonCoord=807;refseq.end=38881271;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3020;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G807E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=37;refseq.start=38881271;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr6 38889844 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.98;MQ0=0;OQ=10765.29;QD=25.04;RankSumP=0.0655712;SB=-4732.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2643C>G;refseq.codonCoord=881;refseq.end=38889844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3243;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S881S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=37;refseq.start=38889844;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr6 38933307 . C T 367.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.64;MQ0=0;OQ=5538.49;QD=19.92;RankSumP=0.0963289;SB=-1868.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5118C>T;refseq.codonCoord=1706;refseq.end=38933307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5718;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1706H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=36;refseq.start=38933307;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 38949079 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=2;HaplotypeScore=3.73;MQ=98.89;MQ0=0;OQ=2170.57;QD=12.84;RankSumP=0.387903;SB=-1095.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.6918G>A;refseq.codonCoord=2306;refseq.end=38949079;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7518;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2306K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-52;refseq.start=38949079;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr6 38951404 . C T 117.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=98.95;MQ0=0;OQ=4831.20;QD=22.90;RankSumP=0.495460;SB=-1098.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.7029C>T;refseq.codonCoord=2343;refseq.end=38951404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7629;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2343V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=60;refseq.start=38951404;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 38966425 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.7842C>A;refseq.codonCoord=2614;refseq.end=38966425;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8442;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2614*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=20;refseq.start=38966425;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr6 39025299 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.11572A>C;refseq.codonCoord=3858;refseq.end=39025299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12172;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3858P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-26;refseq.start=39025299;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 39059976 . C T 348.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=11.10;MQ=98.69;MQ0=0;OQ=5464.42;QD=18.46;RankSumP=0.120156;SB=-1829.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.12317C>T;refseq.codonCoord=4106;refseq.end=39059976;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12917;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4106M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=17;refseq.start=39059976;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr6 39065831 . A G 173.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=491;Dels=0.00;HRun=0;HaplotypeScore=20.78;MQ=98.78;MQ0=0;OQ=9595.18;QD=19.54;RankSumP=0.300078;SB=-3003.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.12468A>G;refseq.codonCoord=4156;refseq.end=39065831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=13068;refseq.name=NM_001371;refseq.name2=DNAH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4156L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=66;refseq.start=39065831;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr6 39124614 . C T 80.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=95.00;MQ0=0;OQ=177.68;QD=19.74;RankSumP=0.166667;SB=-77.31;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.20C>T;refseq.codonCoord=7;refseq.end=39124614;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=80;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.P7L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-59;refseq.start=39124614;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 39124626 . C T 20.33 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=94.51;MQ0=0;QD=1.45;SB=-29.49;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.32C>T;refseq.codonCoord=11;refseq.end=39124626;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=92;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.A11V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-47;refseq.start=39124626;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:12,2:10:-8.32,-3.01,-29.10:53.13 chr6 39141571 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=97.77;MQ0=0;OQ=663.68;QD=14.75;RankSumP=0.0140421;SB=-231.72;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.390G>A;refseq.codonCoord=130;refseq.end=39141571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.K130K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-13;refseq.start=39141571;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr6 39141580 . A G 286.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.10;MQ0=0;OQ=1561.60;QD=37.18;RankSumP=1.00000;SB=-708.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.399A>G;refseq.codonCoord=133;refseq.end=39141580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.E133E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=39141580;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 39142050 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.71;MQ0=0;OQ=1909.15;QD=11.86;RankSumP=0.122971;SB=-392.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.502G>A;refseq.codonCoord=168;refseq.end=39142050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.G168S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=39142050;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr6 39148632 . A C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=429;Dels=0.00;HRun=2;HaplotypeScore=1.57;MQ=98.76;MQ0=0;OQ=16100.32;QD=37.53;RankSumP=1.00000;SB=-6557.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.526A>C;refseq.codonCoord=176;refseq.end=39148632;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.R176R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=17;refseq.start=39148632;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 39149480 . A C 311.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.35;MQ0=0;OQ=7219.19;QD=36.46;RankSumP=1.00000;SB=-3599.49;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.780A>C;refseq.codonCoord=260;refseq.end=39149480;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L260F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-44;refseq.start=39149480;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr6 39156469 . A C 393.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.76;MQ0=0;OQ=7633.47;QD=40.60;RankSumP=1.00000;SB=-3598.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1200A>C;refseq.codonCoord=400;refseq.end=39156469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_002062;refseq.name2=GLP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I400I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=18;refseq.start=39156469;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 39390784 . G T 171.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.21;MQ0=0;OQ=1209.94;QD=13.75;RankSumP=0.206683;SB=-567.76;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.*94C>A;refseq.codingCoordStr_2=c.761C>A;refseq.codingCoordStr_3=c.902C>A;refseq.codonCoord_2=254;refseq.codonCoord_3=301;refseq.end_1=39390784;refseq.end_2=39390784;refseq.end_3=39390784;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1077;refseq.mrnaCoord_2=775;refseq.mrnaCoord_3=916;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name_1=NM_001135105;refseq.name_2=NM_001135107;refseq.name_3=NM_032115;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P254H;refseq.proteinCoordStr_3=p.P301H;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-332;refseq.spliceDist_2=100;refseq.spliceDist_3=100;refseq.start_1=39390784;refseq.start_2=39390784;refseq.start_3=39390784;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr6 39392162 . A G 122.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.24;MQ=97.08;MQ0=0;OQ=879.02;QD=14.90;RankSumP=0.520110;SB=-454.66;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_3=c.696T>C;refseq.codingCoordStr_4=c.696T>C;refseq.codonCoord_3=232;refseq.codonCoord_4=232;refseq.end_1=39392525;refseq.end_2=39392525;refseq.end_3=39392162;refseq.end_4=39392162;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=710;refseq.mrnaCoord_4=710;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name2_4=KCNK16;refseq.name_1=NM_001135107;refseq.name_2=NM_001135105;refseq.name_3=NM_001135106;refseq.name_4=NM_032115;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.Y232Y;refseq.proteinCoordStr_4=p.Y232Y;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.start_1=39390894;refseq.start_2=39391196;refseq.start_3=39392162;refseq.start_4=39392162;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 0/1 chr6 39393672 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.363T>G;refseq.codingCoordStr_2=c.363T>G;refseq.codingCoordStr_3=c.363T>G;refseq.codingCoordStr_4=c.363T>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.codonCoord_4=121;refseq.end_1=39393672;refseq.end_2=39393672;refseq.end_3=39393672;refseq.end_4=39393672;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=377;refseq.mrnaCoord_2=377;refseq.mrnaCoord_3=377;refseq.mrnaCoord_4=377;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name2_4=KCNK16;refseq.name_1=NM_001135105;refseq.name_2=NM_001135106;refseq.name_3=NM_001135107;refseq.name_4=NM_032115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G121G;refseq.proteinCoordStr_2=p.G121G;refseq.proteinCoordStr_3=p.G121G;refseq.proteinCoordStr_4=p.G121G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.start_1=39393672;refseq.start_2=39393672;refseq.start_3=39393672;refseq.start_4=39393672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr6 39398176 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.47654e-09;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.119A>G;refseq.codingCoordStr_2=c.119A>G;refseq.codingCoordStr_3=c.119A>G;refseq.codingCoordStr_4=c.119A>G;refseq.codonCoord_1=40;refseq.codonCoord_2=40;refseq.codonCoord_3=40;refseq.codonCoord_4=40;refseq.end_1=39398176;refseq.end_2=39398176;refseq.end_3=39398176;refseq.end_4=39398176;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=133;refseq.mrnaCoord_2=133;refseq.mrnaCoord_3=133;refseq.mrnaCoord_4=133;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name2_4=KCNK16;refseq.name_1=NM_001135105;refseq.name_2=NM_001135106;refseq.name_3=NM_001135107;refseq.name_4=NM_032115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E40G;refseq.proteinCoordStr_2=p.E40G;refseq.proteinCoordStr_3=p.E40G;refseq.proteinCoordStr_4=p.E40G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=-95;refseq.spliceDist_2=-95;refseq.spliceDist_3=-95;refseq.spliceDist_4=-95;refseq.start_1=39398176;refseq.start_2=39398176;refseq.start_3=39398176;refseq.start_4=39398176;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr6 39398178 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=24.31;MQ=98.32;MQ0=0;OQ=1268.34;QD=12.20;RankSumP=0.0523081;SB=-481.91;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.117G>A;refseq.codingCoordStr_2=c.117G>A;refseq.codingCoordStr_3=c.117G>A;refseq.codingCoordStr_4=c.117G>A;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.codonCoord_4=39;refseq.end_1=39398178;refseq.end_2=39398178;refseq.end_3=39398178;refseq.end_4=39398178;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=131;refseq.mrnaCoord_2=131;refseq.mrnaCoord_3=131;refseq.mrnaCoord_4=131;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name2_4=KCNK16;refseq.name_1=NM_001135105;refseq.name_2=NM_001135106;refseq.name_3=NM_001135107;refseq.name_4=NM_032115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A39A;refseq.proteinCoordStr_2=p.A39A;refseq.proteinCoordStr_3=p.A39A;refseq.proteinCoordStr_4=p.A39A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.spliceDist_3=-97;refseq.spliceDist_4=-97;refseq.start_1=39398178;refseq.start_2=39398178;refseq.start_3=39398178;refseq.start_4=39398178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 0/1 chr6 39398179 . G C 87 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=4.27357e-06;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.116C>G;refseq.codingCoordStr_2=c.116C>G;refseq.codingCoordStr_3=c.116C>G;refseq.codingCoordStr_4=c.116C>G;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.codonCoord_4=39;refseq.end_1=39398179;refseq.end_2=39398179;refseq.end_3=39398179;refseq.end_4=39398179;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=130;refseq.mrnaCoord_2=130;refseq.mrnaCoord_3=130;refseq.mrnaCoord_4=130;refseq.name2_1=KCNK16;refseq.name2_2=KCNK16;refseq.name2_3=KCNK16;refseq.name2_4=KCNK16;refseq.name_1=NM_001135105;refseq.name_2=NM_001135106;refseq.name_3=NM_001135107;refseq.name_4=NM_032115;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A39G;refseq.proteinCoordStr_2=p.A39G;refseq.proteinCoordStr_3=p.A39G;refseq.proteinCoordStr_4=p.A39G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.spliceDist_3=-98;refseq.spliceDist_4=-98;refseq.start_1=39398179;refseq.start_2=39398179;refseq.start_3=39398179;refseq.start_4=39398179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr6 39982843 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.*36A>C;refseq.codingCoordStr_3=c.*36A>C;refseq.end_1=39982843;refseq.end_2=39982843;refseq.end_3=39982843;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1138;refseq.mrnaCoord_2=1328;refseq.mrnaCoord_3=1332;refseq.name2_1=MOCS1;refseq.name2_2=MOCS1;refseq.name2_3=MOCS1;refseq.name_1=NR_033233;refseq.name_2=NM_001075098;refseq.name_3=NM_005943;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=39982843;refseq.start_2=39982843;refseq.start_3=39982843;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 1/0 chr6 40468443 . A G 310.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=2.25;MQ=98.53;MQ0=0;OQ=2932.62;QD=38.09;RankSumP=1.00000;SB=-1257.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1587T>C;refseq.codonCoord=529;refseq.end=40468443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2052;refseq.name=NM_020737;refseq.name2=LRFN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I529I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=187;refseq.start=40468443;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 41273999 rs61736679 C T 30.12 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=93.38;MQ0=0;QD=0.17;SB=123.99;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.202G>A;refseq.codonCoord=68;refseq.end=41273999;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A68T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=147;refseq.start=41273999;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:160,13:163:-55.38,-49.08,-634.95:62.95 chr6 41274053 rs35512890 C T 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=94.61;MQ0=0;OQ=191.01;QD=1.93;SB=-65.44;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.148G>A;refseq.codonCoord=50;refseq.end=41274053;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V50M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=93;refseq.start=41274053;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=gatk GT:AD:DP:GL:GQ 0/1:86,12:94:-50.71,-28.32,-301.28:99 chr6 41274073 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=93.77;MQ0=0;OQ=140.32;QD=2.06;SB=-78.87;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.128A>G;refseq.codonCoord=43;refseq.end=41274073;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y43C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=73;refseq.start=41274073;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:59,9:67:-37.50,-20.18,-240.52:99 chr6 41274076 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.27;MQ0=0;OQ=107.31;QD=1.65;SB=-71.33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.125C>T;refseq.codonCoord=42;refseq.end=41274076;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S42F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=70;refseq.start=41274076;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:57,8:64:-33.28,-19.27,-230.55:99 chr6 41274127 . A G 527.55 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.76;MQ0=0;QD=35.17;RankSumP=1.00000;SB=-142.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.74T>C;refseq.codonCoord=25;refseq.end=41274127;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V25A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=19;refseq.start=41274127;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/1 chr6 41274129 . A G 432.18 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.43;MQ0=0;QD=33.24;RankSumP=1.00000;SB=-124.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.72T>C;refseq.codonCoord=24;refseq.end=41274129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S24S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=17;refseq.start=41274129;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/1 chr6 41274132 . G C 462.03 SnpCluster AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.35;MQ0=0;QD=46.20;SB=-153.41;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.69C>G;refseq.codonCoord=23;refseq.end=41274132;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D23E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=14;refseq.start=41274132;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,10:10:-49.79,-3.01,-0.00:30.10 chr6 41274133 rs41273772 T C 373.92 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.35;MQ0=0;QD=37.39;SB=-118.03;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.68A>G;refseq.codonCoord=23;refseq.end=41274133;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=247;refseq.name=NM_024807;refseq.name2=TREML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D23G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=13;refseq.start=41274133;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,10:10:-40.98,-3.01,-0.00:30.09 chr6 41304583 . T C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=3;HaplotypeScore=4.63;MQ=82.05;MQ0=27;OQ=10127.99;QD=34.10;RankSumP=1.00000;SB=-4329.43;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.217T>C;refseq.codonCoord=73;refseq.end=41304583;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_198153;refseq.name2=TREML4;refseq.positionType=CDS;refseq.proteinCoordStr=p.W73R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=154;refseq.start=41304583;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 41304705 . C T 291.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=98.12;MQ0=0;OQ=12429.62;QD=42.57;RankSumP=1.00000;SB=-5183.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.339C>T;refseq.codonCoord=113;refseq.end=41304705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_198153;refseq.name2=TREML4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N113N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-56;refseq.start=41304705;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 41305835 . C T 446.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=5597.43;QD=39.98;RankSumP=1.00000;SB=-1900.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.503C>T;refseq.codonCoord=168;refseq.end=41305835;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_198153;refseq.name2=TREML4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T168I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=41305835;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 41417530 . T C 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=217.40;QD=21.74;RankSumP=0.726190;SB=-90.91;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.415T>C;refseq.codonCoord=139;refseq.end=41417530;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=502;refseq.name=NM_004828;refseq.name2=NCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S139P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=21;refseq.start=41417530;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr6 41426416 . A G 356.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.66;MQ0=0;OQ=8868.84;QD=37.90;RankSumP=1.00000;SB=-3982.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.667A>G;refseq.codonCoord=223;refseq.end=41426416;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_004828;refseq.name2=NCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M223V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=23;refseq.start=41426416;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr6 41847151 . C T 166.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=98.38;MQ0=0;OQ=3903.51;QD=20.65;RankSumP=0.103954;SB=-1000.18;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.663G>A;refseq.codonCoord=221;refseq.end=41847151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=907;refseq.name=NM_006653;refseq.name2=FRS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P221P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=99;refseq.start=41847151;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr6 41862521 . G T 130.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=94.71;MQ0=0;OQ=698.79;QD=16.64;RankSumP=0.491013;SB=-295.46;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.831G>T;refseq.codonCoord=277;refseq.end=41862521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1079;refseq.name=NM_013397;refseq.name2=PRICKLE4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S277S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=44;refseq.start=41862521;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr6 41881554 . G C 254.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=7.70;MQ=98.68;MQ0=0;OQ=6240.25;QD=23.20;RankSumP=0.145628;SB=-1634.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1146C>G;refseq.codonCoord=382;refseq.end=41881554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_018561;refseq.name2=USP49;refseq.positionType=CDS;refseq.proteinCoordStr=p.L382L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-211;refseq.start=41881554;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 41881713 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.53;MQ0=0;OQ=1575.79;QD=15.15;RankSumP=0.218191;SB=-757.30;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.987C>T;refseq.codonCoord=329;refseq.end=41881713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1209;refseq.name=NM_018561;refseq.name2=USP49;refseq.positionType=CDS;refseq.proteinCoordStr=p.G329G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-370;refseq.start=41881713;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr6 41882663 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.37G>C;refseq.codonCoord=13;refseq.end=41882663;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_018561;refseq.name2=USP49;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=65;refseq.start=41882663;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 42011760 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.48;MQ0=0;OQ=332.88;QD=8.76;RankSumP=0.301462;SB=-147.93;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.532T>G;refseq.codingCoordStr_2=c.559T>G;refseq.codingCoordStr_3=c.187T>G;refseq.codingCoordStr_4=c.775T>G;refseq.codonCoord_1=178;refseq.codonCoord_2=187;refseq.codonCoord_3=63;refseq.codonCoord_4=259;refseq.end_1=42011760;refseq.end_2=42011760;refseq.end_3=42011760;refseq.end_4=42011760;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=949;refseq.mrnaCoord_2=724;refseq.mrnaCoord_3=733;refseq.mrnaCoord_4=940;refseq.name2_1=CCND3;refseq.name2_2=CCND3;refseq.name2_3=CCND3;refseq.name2_4=CCND3;refseq.name_1=NM_001136017;refseq.name_2=NM_001136125;refseq.name_3=NM_001136126;refseq.name_4=NM_001760;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S178A;refseq.proteinCoordStr_2=p.S187A;refseq.proteinCoordStr_3=p.S63A;refseq.proteinCoordStr_4=p.S259A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.spliceDist_4=64;refseq.start_1=42011760;refseq.start_2=42011760;refseq.start_3=42011760;refseq.start_4=42011760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 0/1 chr6 42127098 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.71A>C;refseq.codonCoord=24;refseq.end=42127098;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=100;refseq.name=NM_138572;refseq.name2=TAF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N24T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=26;refseq.start=42127098;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 42152923 . G A 264.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2793.04;QD=20.69;RankSumP=0.418000;SB=-1020.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.888G>A;refseq.codonCoord=296;refseq.end=42152923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_138572;refseq.name2=TAF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R296R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-33;refseq.start=42152923;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr6 42270366 . A G 146.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.84;MQ0=0;OQ=1355.28;QD=12.67;RankSumP=0.173138;SB=-676.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.171T>C;refseq.codonCoord=57;refseq.end=42270366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_002098;refseq.name2=GUCA1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y57Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-37;refseq.start=42270366;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr6 42344350 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.957T>G;refseq.codonCoord=319;refseq.end=42344350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1520;refseq.name=NM_033502;refseq.name2=TRERF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-481;refseq.start=42344350;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 42708297 . A G 214.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=98.32;MQ0=0;OQ=2369.16;QD=30.77;RankSumP=1.00000;SB=-1139.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1311A>G;refseq.codonCoord=437;refseq.end=42708297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_015255;refseq.name2=UBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L437L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=30;refseq.start=42708297;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr6 42734542 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=20;RankSumP=1.35914e-06;SecondBestBaseQ=13;refseq.chr=chr6;refseq.codingCoordStr=c.3242+2;refseq.end=42734542;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_015255;refseq.name2=UBR2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=42734542;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 42774039 . T C 248.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.25;MQ0=0;OQ=2338.61;QD=37.12;RankSumP=1.00000;SB=-644.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1013A>G;refseq.codonCoord=338;refseq.end=42774039;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1299;refseq.name=NM_000322;refseq.name2=PRPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D338G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=185;refseq.start=42774039;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr6 42774123 . C T 313.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.77;MQ0=0;OQ=5263.82;QD=38.70;RankSumP=1.00000;SB=-1288.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.929G>A;refseq.codonCoord=310;refseq.end=42774123;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_000322;refseq.name2=PRPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R310K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=101;refseq.start=42774123;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 42774142 . G C 362.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.87;MQ0=0;OQ=7982.08;QD=45.10;RankSumP=1.00000;SB=-2164.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.910C>G;refseq.codonCoord=304;refseq.end=42774142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_000322;refseq.name2=PRPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q304E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=82;refseq.start=42774142;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 42797733 . A G 329.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=98.56;MQ0=0;OQ=9412.01;QD=41.46;RankSumP=1.00000;SB=-3769.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.318T>C;refseq.codonCoord=106;refseq.end=42797733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=604;refseq.name=NM_000322;refseq.name2=PRPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V106V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-264;refseq.start=42797733;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 42821596 . A G 331.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=97.62;MQ0=0;OQ=3707.84;QD=36.00;RankSumP=1.00000;SB=-1133.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.194T>C;refseq.codonCoord=65;refseq.end=42821596;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_003192;refseq.name2=TBCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V65A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=267;refseq.start=42821596;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 42821623 . T G 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=2.87183e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.167A>C;refseq.codonCoord=56;refseq.end=42821623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_003192;refseq.name2=TBCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.N56T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=240;refseq.start=42821623;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 42932885 . G A 150.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.89;MQ0=0;OQ=2244.14;QD=13.28;RankSumP=0.0973708;SB=-644.60;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2187G>A;refseq.codonCoord=729;refseq.end=42932885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2350;refseq.name=NM_015349;refseq.name2=KIAA0240;refseq.positionType=CDS;refseq.proteinCoordStr=p.A729A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-68;refseq.start=42932885;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr6 42999000 . G A 246.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=98.83;MQ0=0;OQ=3119.11;QD=14.58;RankSumP=0.101634;SB=-964.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.316G>A;refseq.codonCoord=106;refseq.end=42999000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_138296;refseq.name2=PTCRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V106I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-64;refseq.start=42999000;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr6 43014362 . G T 129.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=931.85;QD=14.56;RankSumP=0.393519;SB=-265.27;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.692G>T;refseq.codonCoord=231;refseq.end=43014362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_006586;refseq.name2=CNPY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S231I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=79;refseq.start=43014362;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 43040178 . G T 105.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=2.96;MQ=98.75;MQ0=0;OQ=890.55;QD=17.81;RankSumP=0.477465;SB=-350.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2816C>A;refseq.codonCoord=939;refseq.end=43040178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2909;refseq.name=NM_000287;refseq.name2=PEX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P939Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=43040178;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr6 43040180 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=2.96;MQ=98.73;MQ0=0;OQ=964.06;QD=20.51;RankSumP=0.430550;SB=-349.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2814G>A;refseq.codonCoord=938;refseq.end=43040180;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2907;refseq.name=NM_000287;refseq.name2=PEX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E938E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=43040180;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 43045649 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1185A>C;refseq.codonCoord=395;refseq.end=43045649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1278;refseq.name=NM_000287;refseq.name2=PEX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G395G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-49;refseq.start=43045649;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 43086391 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.200000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1493G>A;refseq.codingCoordStr_2=c.1397G>A;refseq.codingCoordStr_3=c.1175G>A;refseq.codonCoord_1=498;refseq.codonCoord_2=466;refseq.codonCoord_3=392;refseq.end_1=43086391;refseq.end_2=43086391;refseq.end_3=43086391;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1579;refseq.mrnaCoord_2=1483;refseq.mrnaCoord_3=1261;refseq.name2_1=PPP2R5D;refseq.name2_2=PPP2R5D;refseq.name2_3=PPP2R5D;refseq.name_1=NM_006245;refseq.name_2=NM_180976;refseq.name_3=NM_180977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R498Q;refseq.proteinCoordStr_2=p.R466Q;refseq.proteinCoordStr_3=p.R392Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.start_1=43086391;refseq.start_2=43086391;refseq.start_3=43086391;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=FilteredInAll GT 1/0 chr6 43092973 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.65T>G;refseq.codonCoord=22;refseq.end=43092973;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_057161;refseq.name2=KLHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V22G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-90;refseq.start=43092973;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 43122276 . T C 364.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.38;MQ0=0;OQ=7159.90;QD=39.56;RankSumP=1.00000;SB=-3566.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2691A>G;refseq.codingCoordStr_2=c.2439A>G;refseq.codonCoord_1=897;refseq.codonCoord_2=813;refseq.end_1=43122276;refseq.end_2=43122276;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2778;refseq.mrnaCoord_2=2771;refseq.name2_1=CUL7;refseq.name2_2=CUL7;refseq.name_1=NM_001168370;refseq.name_2=NM_014780;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q897Q;refseq.proteinCoordStr_2=p.Q813Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=43122276;refseq.start_2=43122276;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr6 43122277 . T C 320.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.26;MQ0=0;OQ=6563.94;QD=36.26;RankSumP=1.00000;SB=-3018.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2690A>G;refseq.codingCoordStr_2=c.2438A>G;refseq.codonCoord_1=897;refseq.codonCoord_2=813;refseq.end_1=43122277;refseq.end_2=43122277;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2777;refseq.mrnaCoord_2=2770;refseq.name2_1=CUL7;refseq.name2_2=CUL7;refseq.name_1=NM_001168370;refseq.name_2=NM_014780;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q897R;refseq.proteinCoordStr_2=p.Q813R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=43122277;refseq.start_2=43122277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr6 43131299 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.667A>C;refseq.codonCoord=223;refseq.end=43131299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_015950;refseq.name2=MRPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T223P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=36;refseq.start=43131299;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr6 43131795 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr6;refseq.codingCoordStr=c.520+2;refseq.end=43131795;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_015950;refseq.name2=MRPL2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=43131795;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 43148667 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1616T>G;refseq.codingCoordStr_2=c.1616T>G;refseq.codingCoordStr_3=c.1670T>G;refseq.codonCoord_1=539;refseq.codonCoord_2=539;refseq.codonCoord_3=557;refseq.end_1=43148667;refseq.end_2=43148667;refseq.end_3=43148667;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1693;refseq.mrnaCoord_2=1803;refseq.mrnaCoord_3=1989;refseq.name2_1=KLC4;refseq.name2_2=KLC4;refseq.name2_3=KLC4;refseq.name_1=NM_201521;refseq.name_2=NM_201522;refseq.name_3=NM_201523;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V539G;refseq.proteinCoordStr_2=p.V539G;refseq.proteinCoordStr_3=p.V557G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=43148667;refseq.start_2=43148667;refseq.start_3=43148667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr6 43214942 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_2=c.1453A>C;refseq.codingCoordStr_3=c.1453A>C;refseq.codingCoordStr_4=c.1453A>C;refseq.codonCoord_2=485;refseq.codonCoord_3=485;refseq.codonCoord_4=485;refseq.end_1=43217373;refseq.end_2=43214942;refseq.end_3=43214942;refseq.end_4=43214942;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1651;refseq.mrnaCoord_3=1651;refseq.mrnaCoord_4=1651;refseq.name2_1=PTK7;refseq.name2_2=PTK7;refseq.name2_3=PTK7;refseq.name2_4=PTK7;refseq.name_1=NM_152881;refseq.name_2=NM_002821;refseq.name_3=NM_152880;refseq.name_4=NM_152882;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T485P;refseq.proteinCoordStr_3=p.T485P;refseq.proteinCoordStr_4=p.T485P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.start_1=43208414;refseq.start_2=43214942;refseq.start_3=43214942;refseq.start_4=43214942;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr6 43215144 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=1.21815e-08;SecondBestBaseQ=12;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_3=c.1521A>C;refseq.codingCoordStr_4=c.1521A>C;refseq.codonCoord_3=507;refseq.codonCoord_4=507;refseq.end_1=43217373;refseq.end_2=43217373;refseq.end_3=43215144;refseq.end_4=43215144;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1719;refseq.mrnaCoord_4=1719;refseq.name2_1=PTK7;refseq.name2_2=PTK7;refseq.name2_3=PTK7;refseq.name2_4=PTK7;refseq.name_1=NM_152881;refseq.name_2=NM_152880;refseq.name_3=NM_002821;refseq.name_4=NM_152882;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P507P;refseq.proteinCoordStr_4=p.P507P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.start_1=43208414;refseq.start_2=43214998;refseq.start_3=43215144;refseq.start_4=43215144;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr6 43219320 . G C 147.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.21;MQ0=0;OQ=734.49;QD=18.83;RankSumP=0.0740949;SB=14.08;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.2235G>C;refseq.codingCoordStr_2=c.2115G>C;refseq.codingCoordStr_3=c.1845G>C;refseq.codingCoordStr_4=c.2067G>C;refseq.codonCoord_1=745;refseq.codonCoord_2=705;refseq.codonCoord_3=615;refseq.codonCoord_4=689;refseq.end_1=43219320;refseq.end_2=43219320;refseq.end_3=43219320;refseq.end_4=43219320;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2433;refseq.mrnaCoord_2=2313;refseq.mrnaCoord_3=2043;refseq.mrnaCoord_4=2265;refseq.name2_1=PTK7;refseq.name2_2=PTK7;refseq.name2_3=PTK7;refseq.name2_4=PTK7;refseq.name_1=NM_002821;refseq.name_2=NM_152880;refseq.name_3=NM_152881;refseq.name_4=NM_152882;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E745D;refseq.proteinCoordStr_2=p.E705D;refseq.proteinCoordStr_3=p.E615D;refseq.proteinCoordStr_4=p.E689D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.spliceDist_4=-17;refseq.start_1=43219320;refseq.start_2=43219320;refseq.start_3=43219320;refseq.start_4=43219320;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 0/1 chr6 43235684 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.3052+2;refseq.codingCoordStr_2=c.2932+2;refseq.codingCoordStr_3=c.2662+2;refseq.codingCoordStr_4=c.2884+2;refseq.end_1=43235684;refseq.end_2=43235684;refseq.end_3=43235684;refseq.end_4=43235684;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=PTK7;refseq.name2_2=PTK7;refseq.name2_3=PTK7;refseq.name2_4=PTK7;refseq.name_1=NM_002821;refseq.name_2=NM_152880;refseq.name_3=NM_152881;refseq.name_4=NM_152882;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=43235684;refseq.start_2=43235684;refseq.start_3=43235684;refseq.start_4=43235684;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=FilteredInAll GT 1/0 chr6 43251574 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=173;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.34;MQ0=0;OQ=2213.73;QD=12.80;RankSumP=0.122645;SB=-568.58;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.933C>T;refseq.codonCoord=311;refseq.end=43251574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_003131;refseq.name2=SRF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S311S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-110;refseq.start=43251574;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr6 43262069 . C G 336.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.34;MQ0=0;OQ=5885.60;QD=45.98;RankSumP=1.00000;SB=-2229.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1149C>G;refseq.codonCoord=383;refseq.end=43262069;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1224;refseq.name=NM_015089;refseq.name2=CUL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L383L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-103;refseq.start=43262069;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr6 43281770 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4841A>G;refseq.codonCoord=1614;refseq.end=43281770;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4916;refseq.name=NM_015089;refseq.name2=CUL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1614G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=48;refseq.start=43281770;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 43288987 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5335C>G;refseq.codonCoord=1779;refseq.end=43288987;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5410;refseq.name=NM_015089;refseq.name2=CUL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1779V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-24;refseq.start=43288987;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr6 43329358 . C G 14.80 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=83;Dels=0.00;HRun=3;HaplotypeScore=18.25;MQ=94.32;MQ0=0;QD=0.18;RankSumP=3.78065e-05;SB=29.13;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.405C>G;refseq.codonCoord=135;refseq.end=43329358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_032538;refseq.name2=TTBK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G135G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-67;refseq.start=43329358;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 43335287 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=7.40530e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1289T>G;refseq.codonCoord=430;refseq.end=43335287;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1568;refseq.name=NM_032538;refseq.name2=TTBK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V430G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=41;refseq.start=43335287;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 43360007 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=98.34;MQ0=0;OQ=981.62;QD=9.09;RankSumP=0.291997;SB=-277.27;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3551T>C;refseq.codonCoord=1184;refseq.end=43360007;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3830;refseq.name=NM_032538;refseq.name2=TTBK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1184S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-22;refseq.start=43360007;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr6 43378075 . T C 232.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2679.29;QD=36.21;RankSumP=1.00000;SB=-742.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1215T>C;refseq.codingCoordStr_2=c.1221T>C;refseq.codonCoord_1=405;refseq.codonCoord_2=407;refseq.end_1=43378075;refseq.end_2=43378075;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1314;refseq.mrnaCoord_2=1320;refseq.name2_1=SLC22A7;refseq.name2_2=SLC22A7;refseq.name_1=NM_006672;refseq.name_2=NM_153320;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A405A;refseq.proteinCoordStr_2=p.A407A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=43378075;refseq.start_2=43378075;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr6 43381582 . A G 447.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.84;MQ0=0;OQ=3659.53;QD=39.78;RankSumP=1.00000;SB=-1598.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.563T>C;refseq.codonCoord=188;refseq.end=43381582;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_206922;refseq.name2=CRIP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I188T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=43381582;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr6 43414324 . A G 320.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.68;MQ0=0;OQ=4077.88;QD=40.78;RankSumP=1.00000;SB=-944.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5390T>C;refseq.codonCoord=1797;refseq.end=43414324;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5468;refseq.name=NM_014345;refseq.name2=ZNF318;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1797A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=1895;refseq.start=43414324;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 43414981 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4733A>G;refseq.codonCoord=1578;refseq.end=43414981;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4811;refseq.name=NM_014345;refseq.name2=ZNF318;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1578R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1238;refseq.start=43414981;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr6 43430710 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2340A>C;refseq.codonCoord=780;refseq.end=43430710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2418;refseq.name=NM_014345;refseq.name2=ZNF318;refseq.positionType=CDS;refseq.proteinCoordStr=p.G780G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-331;refseq.start=43430710;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 43520843 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=303;Dels=0.00;HRun=3;HaplotypeScore=25.42;MQ=98.47;MQ0=0;OQ=4672.02;QD=15.42;RankSumP=0.000341773;SB=-1445.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2759T>C;refseq.codonCoord=920;refseq.end=43520843;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3118;refseq.name=NM_033450;refseq.name2=ABCC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I920T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=43520843;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr6 43526669 . G A 142.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=3.43;MQ=98.62;MQ0=0;OQ=1118.80;QD=15.54;RankSumP=0.649748;SB=-486.42;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.738C>T;refseq.codingCoordStr_2=c.738C>T;refseq.codonCoord_1=246;refseq.codonCoord_2=246;refseq.end_1=43526669;refseq.end_2=43526669;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=947;refseq.mrnaCoord_2=855;refseq.name2_1=DLK2;refseq.name2_2=DLK2;refseq.name_1=NM_023932;refseq.name_2=NM_206539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T246T;refseq.proteinCoordStr_2=p.T246T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=322;refseq.spliceDist_2=322;refseq.start_1=43526669;refseq.start_2=43526669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr6 43526711 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.53;MQ0=0;OQ=697.78;QD=12.24;RankSumP=0.169077;SB=-279.17;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.696C>T;refseq.codingCoordStr_2=c.696C>T;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.end_1=43526711;refseq.end_2=43526711;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=905;refseq.mrnaCoord_2=813;refseq.name2_1=DLK2;refseq.name2_2=DLK2;refseq.name_1=NM_023932;refseq.name_2=NM_206539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H232H;refseq.proteinCoordStr_2=p.H232H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=280;refseq.spliceDist_2=280;refseq.start_1=43526711;refseq.start_2=43526711;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr6 43527654 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.416+2;refseq.codingCoordStr_2=c.416+2;refseq.end_1=43527654;refseq.end_2=43527654;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=DLK2;refseq.name2_2=DLK2;refseq.name_1=NM_023932;refseq.name_2=NM_206539;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=43527654;refseq.start_2=43527654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr6 43528740 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.252A>G;refseq.codingCoordStr_2=c.252A>G;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.end_1=43528740;refseq.end_2=43528740;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=461;refseq.mrnaCoord_2=369;refseq.name2_1=DLK2;refseq.name2_2=DLK2;refseq.name_1=NM_023932;refseq.name_2=NM_206539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A84A;refseq.proteinCoordStr_2=p.A84A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=43528740;refseq.start_2=43528740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/0 chr6 43528741 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.251C>G;refseq.codingCoordStr_2=c.251C>G;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.end_1=43528741;refseq.end_2=43528741;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=460;refseq.mrnaCoord_2=368;refseq.name2_1=DLK2;refseq.name2_2=DLK2;refseq.name_1=NM_023932;refseq.name_2=NM_206539;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A84G;refseq.proteinCoordStr_2=p.A84G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=43528741;refseq.start_2=43528741;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr6 43579355 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.codingCoordStr_2=c.512A>G;refseq.codingCoordStr_3=c.512A>G;refseq.codingCoordStr_4=c.482A>G;refseq.codingCoordStr_5=c.482A>G;refseq.codingCoordStr_6=c.482A>G;refseq.codingCoordStr_7=c.482A>G;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.codonCoord_4=161;refseq.codonCoord_5=161;refseq.codonCoord_6=161;refseq.codonCoord_7=161;refseq.end_1=43579355;refseq.end_2=43579355;refseq.end_3=43579355;refseq.end_4=43579355;refseq.end_5=43579355;refseq.end_6=43579355;refseq.end_7=43579355;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=775;refseq.mrnaCoord_2=888;refseq.mrnaCoord_3=853;refseq.mrnaCoord_4=915;refseq.mrnaCoord_5=858;refseq.mrnaCoord_6=709;refseq.mrnaCoord_7=910;refseq.name2_1=TJAP1;refseq.name2_2=TJAP1;refseq.name2_3=TJAP1;refseq.name2_4=TJAP1;refseq.name2_5=TJAP1;refseq.name2_6=TJAP1;refseq.name2_7=TJAP1;refseq.name_1=NR_027394;refseq.name_2=NM_001146016;refseq.name_3=NM_001146017;refseq.name_4=NM_001146018;refseq.name_5=NM_001146019;refseq.name_6=NM_001146020;refseq.name_7=NM_080604;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.D171G;refseq.proteinCoordStr_3=p.D171G;refseq.proteinCoordStr_4=p.D161G;refseq.proteinCoordStr_5=p.D161G;refseq.proteinCoordStr_6=p.D161G;refseq.proteinCoordStr_7=p.D161G;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.referenceCodon_7=GAC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.spliceDist_5=17;refseq.spliceDist_6=17;refseq.spliceDist_7=17;refseq.start_1=43579355;refseq.start_2=43579355;refseq.start_3=43579355;refseq.start_4=43579355;refseq.start_5=43579355;refseq.start_6=43579355;refseq.start_7=43579355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;refseq.variantCodon_7=GGC;set=FilteredInAll GT 0/1 chr6 43581357 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.codingCoordStr_2=c.1460A>C;refseq.codingCoordStr_3=c.1460A>C;refseq.codingCoordStr_4=c.1430A>C;refseq.codingCoordStr_5=c.1430A>C;refseq.codingCoordStr_6=c.1430A>C;refseq.codingCoordStr_7=c.1430A>C;refseq.codonCoord_2=487;refseq.codonCoord_3=487;refseq.codonCoord_4=477;refseq.codonCoord_5=477;refseq.codonCoord_6=477;refseq.codonCoord_7=477;refseq.end_1=43581357;refseq.end_2=43581357;refseq.end_3=43581357;refseq.end_4=43581357;refseq.end_5=43581357;refseq.end_6=43581357;refseq.end_7=43581357;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1723;refseq.mrnaCoord_2=1836;refseq.mrnaCoord_3=1801;refseq.mrnaCoord_4=1863;refseq.mrnaCoord_5=1806;refseq.mrnaCoord_6=1657;refseq.mrnaCoord_7=1858;refseq.name2_1=TJAP1;refseq.name2_2=TJAP1;refseq.name2_3=TJAP1;refseq.name2_4=TJAP1;refseq.name2_5=TJAP1;refseq.name2_6=TJAP1;refseq.name2_7=TJAP1;refseq.name_1=NR_027394;refseq.name_2=NM_001146016;refseq.name_3=NM_001146017;refseq.name_4=NM_001146018;refseq.name_5=NM_001146019;refseq.name_6=NM_001146020;refseq.name_7=NM_080604;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.N487T;refseq.proteinCoordStr_3=p.N487T;refseq.proteinCoordStr_4=p.N477T;refseq.proteinCoordStr_5=p.N477T;refseq.proteinCoordStr_6=p.N477T;refseq.proteinCoordStr_7=p.N477T;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.referenceCodon_7=AAC;refseq.spliceDist_1=881;refseq.spliceDist_2=881;refseq.spliceDist_3=881;refseq.spliceDist_4=881;refseq.spliceDist_5=881;refseq.spliceDist_6=881;refseq.spliceDist_7=881;refseq.start_1=43581357;refseq.start_2=43581357;refseq.start_3=43581357;refseq.start_4=43581357;refseq.start_5=43581357;refseq.start_6=43581357;refseq.start_7=43581357;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=FilteredInAll GT 0/1 chr6 43583257 . T C 61 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=1.76165e-07;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.795A>G;refseq.codonCoord=265;refseq.end=43583257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1696;refseq.name=NM_001012974;refseq.name2=C6orf154;refseq.positionType=CDS;refseq.proteinCoordStr=p.G265G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-86;refseq.start=43583257;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 43588860 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.591A>G;refseq.codonCoord=197;refseq.end=43588860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_015388;refseq.name2=YIPF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G197G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=57;refseq.start=43588860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 43697373 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=356;Dels=0.00;HRun=2;HaplotypeScore=43.57;MQ=97.53;MQ0=0;OQ=323.57;QD=0.91;RankSumP=0.00000;SB=387.30;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1765C>A;refseq.codonCoord=589;refseq.end=43697373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1802;refseq.name=NM_019096;refseq.name2=GTPBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q589K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=133;refseq.start=43697373;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr6 44224268 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1162A>C;refseq.codonCoord=388;refseq.end=44224268;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1226;refseq.name=NM_018426;refseq.name2=TMEM63B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T388P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=41;refseq.start=44224268;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 44325755 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.534T>G;refseq.codonCoord=178;refseq.end=44325755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_007355;refseq.name2=HSP90AB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G178G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=20;refseq.start=44325755;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 44326098 . A G 342.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.15;MQ0=2;OQ=2310.18;QD=37.87;RankSumP=1.00000;SB=-414.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.741A>G;refseq.codonCoord=247;refseq.end=44326098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_007355;refseq.name2=HSP90AB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K247K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=93;refseq.start=44326098;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 44330889 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.831T>G;refseq.codonCoord=277;refseq.end=44330889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_178148;refseq.name2=SLC35B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G277G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=471;refseq.start=44330889;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 44330988 . G T 402.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=98.76;MQ0=0;OQ=4677.91;QD=35.17;RankSumP=1.00000;SB=-1759.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.732C>A;refseq.codonCoord=244;refseq.end=44330988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_178148;refseq.name2=SLC35B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T244T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=372;refseq.start=44330988;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr6 44331299 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.421A>C;refseq.codonCoord=141;refseq.end=44331299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_178148;refseq.name2=SLC35B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T141P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=61;refseq.start=44331299;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr6 44355929 . T G 197.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=97.94;MQ0=0;OQ=11175.26;QD=37.63;RankSumP=1.00000;SB=-5487.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1473A>C;refseq.codonCoord=491;refseq.end=44355929;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1629;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I491I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-55;refseq.start=44355929;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 44355953 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1449T>C;refseq.codonCoord=483;refseq.end=44355953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N483N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-79;refseq.start=44355953;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr6 44357905 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1216A>C;refseq.codonCoord=406;refseq.end=44357905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1372;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T406P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-81;refseq.start=44357905;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 44358143 . A G 161.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=12.22;MQ=98.40;MQ0=0;OQ=2036.74;QD=22.63;RankSumP=1.00000;SB=-558.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.978T>C;refseq.codonCoord=326;refseq.end=44358143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G326G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=132;refseq.start=44358143;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr6 44361727 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=24.00;MQ=98.54;MQ0=0;OQ=2893.92;QD=26.07;RankSumP=1.00000;SB=-591.22;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.798T>C;refseq.codonCoord=266;refseq.end=44361727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R266R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-49;refseq.start=44361727;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr6 44363437 . G A 316.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=98.61;MQ0=0;OQ=10859.01;QD=40.67;RankSumP=1.00000;SB=-4535.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.104C>T;refseq.codonCoord=35;refseq.end=44363437;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P35L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-174;refseq.start=44363437;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 44363506 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.35A>C;refseq.codonCoord=12;refseq.end=44363506;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_182539;refseq.name2=TCTE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D12A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=128;refseq.start=44363506;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr6 44376349 . T C 368.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.56;MQ0=0;OQ=2493.45;QD=35.12;RankSumP=1.00000;SB=-1020.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2871A>G;refseq.codonCoord=957;refseq.end=44376349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2874;refseq.name=NM_020745;refseq.name2=AARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S957S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=78;refseq.start=44376349;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr6 44377171 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=4;HaplotypeScore=3.97;MQ=98.02;MQ0=0;OQ=5451.45;QD=39.22;RankSumP=1.00000;SB=-1249.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2607G>A;refseq.codonCoord=869;refseq.end=44377171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2610;refseq.name=NM_020745;refseq.name2=AARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K869K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=44377171;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr6 44382989 . T C 250.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=97.52;MQ0=0;OQ=5461.32;QD=35.01;RankSumP=1.00000;SB=-2731.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1015A>G;refseq.codonCoord=339;refseq.end=44382989;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_020745;refseq.name2=AARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I339V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-26;refseq.start=44382989;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 44388863 . A C 78 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.75797e-05;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.176T>G;refseq.codonCoord=59;refseq.end=44388863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=179;refseq.name=NM_020745;refseq.name2=AARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V59G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-68;refseq.start=44388863;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 44418832 . G A 314.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.98;MQ0=0;OQ=4116.20;QD=20.58;RankSumP=0.394710;SB=-1429.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.22G>A;refseq.codonCoord=8;refseq.end=44418832;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_145026;refseq.name2=SPATS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G8R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=22;refseq.start=44418832;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr6 44428526 . T A 287.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.82;MQ0=0;OQ=3806.67;QD=21.63;RankSumP=0.386842;SB=-1562.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.225T>A;refseq.codonCoord=75;refseq.end=44428526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_145026;refseq.name2=SPATS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S75S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-63;refseq.start=44428526;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr6 45008434 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.846G>C;refseq.codingCoordStr_2=c.879G>C;refseq.codonCoord_1=282;refseq.codonCoord_2=293;refseq.end_1=45008434;refseq.end_2=45008434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=917;refseq.mrnaCoord_2=1197;refseq.name2_1=SUPT3H;refseq.name2_2=SUPT3H;refseq.name_1=NM_003599;refseq.name_2=NM_181356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q282H;refseq.proteinCoordStr_2=p.Q293H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=45008434;refseq.start_2=45008434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr6 46215711 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=915;Dels=0.00;HRun=1;HaplotypeScore=23.62;MQ=98.84;MQ0=0;OQ=19555.39;QD=21.37;RankSumP=0.185344;SB=-5359.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.432C>G;refseq.codonCoord=144;refseq.end=46215711;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_014936;refseq.name2=ENPP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H144Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-395;refseq.start=46215711;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr6 46237304 . G A 321.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=98.85;MQ0=0;OQ=2404.95;QD=16.70;RankSumP=0.0836636;SB=-1158.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1152C>T;refseq.codonCoord=384;refseq.end=46237304;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1360;refseq.name=NM_021572;refseq.name2=ENPP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T384T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=146;refseq.start=46237304;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr6 46243448 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=99.00;MQ0=0;OQ=1267.52;QD=12.31;RankSumP=0.148848;SB=-494.89;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.511A>G;refseq.codonCoord=171;refseq.end=46243448;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_021572;refseq.name2=ENPP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I171V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-319;refseq.start=46243448;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr6 46243943 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=99.00;MQ0=0;OQ=2402.99;QD=10.40;RankSumP=0.397932;SB=-693.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.16C>A;refseq.codonCoord=6;refseq.end=46243943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_021572;refseq.name2=ENPP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L6I;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=51;refseq.start=46243943;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 46717864 . C T 268.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=98.93;MQ0=0;OQ=2155.74;QD=15.51;RankSumP=0.372788;SB=-1010.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.308G>A;refseq.codonCoord=103;refseq.end=46717864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_016593;refseq.name2=CYP39A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R103H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=46717864;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 46728199 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=105;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.20;MQ0=0;OQ=1876.60;QD=17.87;RankSumP=0.272773;SB=-679.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.80G>A;refseq.codonCoord=27;refseq.end=46728199;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_016593;refseq.name2=CYP39A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R27H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-98;refseq.start=46728199;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 46731657 . T C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=585;Dels=0.00;HRun=1;HaplotypeScore=24.67;MQ=98.63;MQ0=0;OQ=20354.15;QD=34.79;RankSumP=1.00000;SB=-8115.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.225T>C;refseq.codonCoord=75;refseq.end=46731657;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_004277;refseq.name2=SLC25A27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A75A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-74;refseq.start=46731657;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr6 46745867 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.741A>C;refseq.codonCoord=247;refseq.end=46745867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_004277;refseq.name2=SLC25A27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T247T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=37;refseq.start=46745867;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 46764989 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1165T>G;refseq.codingCoordStr_2=c.1165T>G;refseq.codonCoord_1=389;refseq.codonCoord_2=389;refseq.end_1=46764989;refseq.end_2=46764989;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1419;refseq.mrnaCoord_2=1419;refseq.name2_1=TDRD6;refseq.name2_2=TDRD6;refseq.name_1=NM_001010870;refseq.name_2=NM_001168359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S389A;refseq.proteinCoordStr_2=p.S389A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=1419;refseq.spliceDist_2=1419;refseq.start_1=46764989;refseq.start_2=46764989;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 1/0 chr6 46765016 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=22.18;MQ=98.65;MQ0=0;OQ=15267.48;QD=33.85;RankSumP=1.00000;SB=-5012.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1192A>G;refseq.codingCoordStr_2=c.1192A>G;refseq.codonCoord_1=398;refseq.codonCoord_2=398;refseq.end_1=46765016;refseq.end_2=46765016;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1446;refseq.mrnaCoord_2=1446;refseq.name2_1=TDRD6;refseq.name2_2=TDRD6;refseq.name_1=NM_001010870;refseq.name_2=NM_001168359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T398A;refseq.proteinCoordStr_2=p.T398A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1446;refseq.spliceDist_2=1446;refseq.start_1=46765016;refseq.start_2=46765016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 46766864 . C G 263.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=2959.55;QD=21.29;RankSumP=0.196921;SB=-1478.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3040C>G;refseq.codingCoordStr_2=c.3040C>G;refseq.codonCoord_1=1014;refseq.codonCoord_2=1014;refseq.end_1=46766864;refseq.end_2=46766864;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3294;refseq.mrnaCoord_2=3294;refseq.name2_1=TDRD6;refseq.name2_2=TDRD6;refseq.name_1=NM_001010870;refseq.name_2=NM_001168359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1014E;refseq.proteinCoordStr_2=p.Q1014E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-3007;refseq.spliceDist_2=-3007;refseq.start_1=46766864;refseq.start_2=46766864;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr6 46780902 . A G 401.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=6492.44;QD=41.89;RankSumP=1.00000;SB=-3102.30;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1136T>C;refseq.codingCoordStr_2=c.1136T>C;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.end_1=46780902;refseq.end_2=46780902;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1314;refseq.mrnaCoord_2=1405;refseq.name2_1=PLA2G7;refseq.name2_2=PLA2G7;refseq.name_1=NM_001168357;refseq.name_2=NM_005084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V379A;refseq.proteinCoordStr_2=p.V379A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=46780902;refseq.start_2=46780902;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 46787262 . A G 348.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=98.84;MQ0=0;OQ=7640.73;QD=21.17;RankSumP=0.0897822;SB=-2410.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.593T>C;refseq.codingCoordStr_2=c.593T>C;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.end_1=46787262;refseq.end_2=46787262;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=771;refseq.mrnaCoord_2=862;refseq.name2_1=PLA2G7;refseq.name2_2=PLA2G7;refseq.name_1=NM_001168357;refseq.name_2=NM_005084;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I198T;refseq.proteinCoordStr_2=p.I198T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=46787262;refseq.start_2=46787262;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr6 46910329 . G A 210.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=551;Dels=0.00;HRun=0;HaplotypeScore=14.50;MQ=92.26;MQ0=0;OQ=11260.76;QD=20.44;RankSumP=0.122586;SB=-4070.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1665G>A;refseq.codonCoord=555;refseq.end=46910329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1707;refseq.name=NM_005588;refseq.name2=MEP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T555T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=56;refseq.start=46910329;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr6 46910977 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.91;MQ0=24;OQ=359.21;QD=7.48;RankSumP=0.643151;SB=-182.81;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1816A>T;refseq.codonCoord=606;refseq.end=46910977;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1858;refseq.name=NM_005588;refseq.name2=MEP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T606S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=33;refseq.start=46910977;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr6 46911061 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=88.46;MQ0=1;OQ=592.48;QD=12.88;RankSumP=0.515292;SB=-295.99;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1900A>G;refseq.codonCoord=634;refseq.end=46911061;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1942;refseq.name=NM_005588;refseq.name2=MEP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M634V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=117;refseq.start=46911061;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr6 46934467 . G A 309.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=97.27;MQ0=0;OQ=10238.81;QD=38.78;RankSumP=1.00000;SB=-4939.58;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3132C>T;refseq.codingCoordStr_2=c.3132C>T;refseq.codonCoord_1=1044;refseq.codonCoord_2=1044;refseq.end_1=46934467;refseq.end_2=46934467;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3421;refseq.mrnaCoord_2=3361;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1044N;refseq.proteinCoordStr_2=p.N1044N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-643;refseq.spliceDist_2=-643;refseq.start_1=46934467;refseq.start_2=46934467;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr6 46934617 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.272686;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2982C>G;refseq.codingCoordStr_2=c.2982C>G;refseq.codonCoord_1=994;refseq.codonCoord_2=994;refseq.end_1=46934617;refseq.end_2=46934617;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3271;refseq.mrnaCoord_2=3211;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S994S;refseq.proteinCoordStr_2=p.S994S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=603;refseq.spliceDist_2=603;refseq.start_1=46934617;refseq.start_2=46934617;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=FilteredInAll GT 0/1 chr6 46934674 . T A 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=345;Dels=0.00;HRun=1;HaplotypeScore=7.06;MQ=79.16;MQ0=55;OQ=10142.82;QD=29.40;RankSumP=1.00000;SB=-3894.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2925A>T;refseq.codingCoordStr_2=c.2925A>T;refseq.codonCoord_1=975;refseq.codonCoord_2=975;refseq.end_1=46934674;refseq.end_2=46934674;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3214;refseq.mrnaCoord_2=3154;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V975V;refseq.proteinCoordStr_2=p.V975V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=546;refseq.spliceDist_2=546;refseq.start_1=46934674;refseq.start_2=46934674;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr6 46934803 . T C 137.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=526;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=97.87;MQ0=0;OQ=20613.23;QD=39.19;RankSumP=1.00000;SB=-8799.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2796A>G;refseq.codingCoordStr_2=c.2796A>G;refseq.codonCoord_1=932;refseq.codonCoord_2=932;refseq.end_1=46934803;refseq.end_2=46934803;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3085;refseq.mrnaCoord_2=3025;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T932T;refseq.proteinCoordStr_2=p.T932T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=417;refseq.spliceDist_2=417;refseq.start_1=46934803;refseq.start_2=46934803;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr6 46934869 . G A 243.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=98.04;MQ0=0;OQ=18210.40;QD=42.75;RankSumP=1.00000;SB=-7767.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2730C>T;refseq.codingCoordStr_2=c.2730C>T;refseq.codonCoord_1=910;refseq.codonCoord_2=910;refseq.end_1=46934869;refseq.end_2=46934869;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3019;refseq.mrnaCoord_2=2959;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A910A;refseq.proteinCoordStr_2=p.A910A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=351;refseq.spliceDist_2=351;refseq.start_1=46934869;refseq.start_2=46934869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr6 46935032 . A G 274.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=8.96;MQ=87.19;MQ0=1;OQ=6489.47;QD=37.51;RankSumP=1.00000;SB=-3020.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2567T>C;refseq.codingCoordStr_2=c.2567T>C;refseq.codonCoord_1=856;refseq.codonCoord_2=856;refseq.end_1=46935032;refseq.end_2=46935032;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2856;refseq.mrnaCoord_2=2796;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M856T;refseq.proteinCoordStr_2=p.M856T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=188;refseq.spliceDist_2=188;refseq.start_1=46935032;refseq.start_2=46935032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr6 46935085 . C T 263.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=10.11;MQ=91.97;MQ0=11;OQ=7845.12;QD=41.07;RankSumP=1.00000;SB=-3879.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2514G>A;refseq.codingCoordStr_2=c.2514G>A;refseq.codonCoord_1=838;refseq.codonCoord_2=838;refseq.end_1=46935085;refseq.end_2=46935085;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2803;refseq.mrnaCoord_2=2743;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S838S;refseq.proteinCoordStr_2=p.S838S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=46935085;refseq.start_2=46935085;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr6 46940772 . G A 77.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=1;HaplotypeScore=6.61;MQ=98.86;MQ0=0;OQ=17233.79;QD=43.85;RankSumP=1.00000;SB=-7984.55;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1956C>T;refseq.codingCoordStr_2=c.1956C>T;refseq.codonCoord_1=652;refseq.codonCoord_2=652;refseq.end_1=46940772;refseq.end_2=46940772;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2245;refseq.mrnaCoord_2=2185;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V652V;refseq.proteinCoordStr_2=p.V652V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=46940772;refseq.start_2=46940772;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr6 46942644 . G A 280.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.90;MQ0=0;OQ=14506.72;QD=42.67;RankSumP=1.00000;SB=-4374.14;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1811C>T;refseq.codingCoordStr_2=c.1811C>T;refseq.codonCoord_1=604;refseq.codonCoord_2=604;refseq.end_1=46942644;refseq.end_2=46942644;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2100;refseq.mrnaCoord_2=2040;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T604M;refseq.proteinCoordStr_2=p.T604M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=46942644;refseq.start_2=46942644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr6 46955544 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1006A>C;refseq.codingCoordStr_2=c.1006A>C;refseq.codonCoord_1=336;refseq.codonCoord_2=336;refseq.end_1=46955544;refseq.end_2=46955544;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1295;refseq.mrnaCoord_2=1235;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T336P;refseq.proteinCoordStr_2=p.T336P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=46955544;refseq.start_2=46955544;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 46964059 . G A 253.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.91;MQ0=0;OQ=15603.64;QD=43.34;RankSumP=1.00000;SB=-6946.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.300C>T;refseq.codingCoordStr_2=c.300C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=46964059;refseq.end_2=46964059;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=589;refseq.mrnaCoord_2=529;refseq.name2_1=GPR116;refseq.name2_2=GPR116;refseq.name_1=NM_001098518;refseq.name_2=NM_015234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T100T;refseq.proteinCoordStr_2=p.T100T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=46964059;refseq.start_2=46964059;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr6 47084860 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2270T>G;refseq.codonCoord=757;refseq.end=47084860;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2469;refseq.name=NM_153840;refseq.name2=GPR110;refseq.positionType=CDS;refseq.proteinCoordStr=p.V757G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-221;refseq.start=47084860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 47308662 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1766T>G;refseq.codonCoord=589;refseq.end=47308662;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2199;refseq.name=NM_014452;refseq.name2=TNFRSF21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V589G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=28;refseq.start=47308662;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr6 47671651 . C T 165.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=10462.86;QD=42.71;RankSumP=1.00000;SB=-4594.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1204C>T;refseq.codonCoord=402;refseq.end=47671651;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1660;refseq.name=NM_012120;refseq.name2=CD2AP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L402L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-71;refseq.start=47671651;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr6 47754707 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=3;HaplotypeScore=2.78;MQ=98.66;MQ0=0;OQ=2582.26;QD=19.56;RankSumP=0.150055;SB=-960.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.145T>C;refseq.codonCoord=49;refseq.end=47754707;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.S49P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=30;refseq.start=47754707;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr6 47754801 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=16.85;MQ=98.88;MQ0=0;OQ=5690.10;QD=18.47;RankSumP=0.434606;SB=-2060.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.239A>G;refseq.codonCoord=80;refseq.end=47754801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q80R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-29;refseq.start=47754801;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr6 47757181 . T G 318.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=6.79;MQ=98.89;MQ0=0;OQ=8557.29;QD=19.02;RankSumP=0.00000;SB=-3021.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.723T>G;refseq.codonCoord=241;refseq.end=47757181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=999;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.S241S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=222;refseq.start=47757181;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/0 chr6 47757224 . T A 168.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=682;Dels=0.00;HRun=0;HaplotypeScore=15.23;MQ=98.77;MQ0=0;OQ=12676.89;QD=18.59;RankSumP=0.284625;SB=-4237.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.766T>A;refseq.codonCoord=256;refseq.end=47757224;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1042;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.L256M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=265;refseq.start=47757224;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr6 47757532 . C T 336.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=453;Dels=0.00;HRun=0;HaplotypeScore=12.87;MQ=98.88;MQ0=0;OQ=8924.22;QD=19.70;RankSumP=0.0271399;SB=-2550.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1074C>T;refseq.codonCoord=358;refseq.end=47757532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.S358S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=573;refseq.start=47757532;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr6 47757533 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=25.85;MQ=98.88;MQ0=0;OQ=9444.81;QD=20.27;RankSumP=0.368773;SB=-2409.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1075A>G;refseq.codonCoord=359;refseq.end=47757533;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1351;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.K359E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=574;refseq.start=47757533;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 47757653 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=555;Dels=0.00;HRun=0;HaplotypeScore=30.46;MQ=98.88;MQ0=0;OQ=10567.38;QD=19.04;RankSumP=0.0798401;SB=-3101.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1195A>G;refseq.codonCoord=399;refseq.end=47757653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1471;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.I399V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-669;refseq.start=47757653;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 47758253 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1795G>T;refseq.codonCoord=599;refseq.end=47758253;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2071;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.V599L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-69;refseq.start=47758253;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr6 47762701 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=1;HaplotypeScore=10.77;MQ=98.91;MQ0=0;OQ=12987.30;QD=20.45;RankSumP=0.199414;SB=-5188.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1878A>T;refseq.codonCoord=626;refseq.end=47762701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2154;refseq.name=NM_153839;refseq.name2=GPR111;refseq.positionType=CDS;refseq.proteinCoordStr=p.L626L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=15;refseq.start=47762701;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr6 47790563 . A C 134.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=551;Dels=0.00;HRun=0;HaplotypeScore=13.52;MQ=98.64;MQ0=0;OQ=19251.47;QD=34.94;RankSumP=1.00000;SB=-7295.93;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1623A>C;refseq.codonCoord=541;refseq.end=47790563;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1881;refseq.name=NM_153838;refseq.name2=GPR115;refseq.positionType=CDS;refseq.proteinCoordStr=p.K541N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-310;refseq.start=47790563;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr6 47857872 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.111C>G;refseq.codonCoord=37;refseq.end=47857872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=116;refseq.name=NM_181744;refseq.name2=OPN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G37G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-20;refseq.start=47857872;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 49511241 . T C 204.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.94;MQ0=0;OQ=2596.32;QD=16.86;RankSumP=0.448085;SB=-1263.57;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2011A>G;refseq.codonCoord=671;refseq.end=49511241;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2266;refseq.name=NM_000255;refseq.name2=MUT;refseq.positionType=CDS;refseq.proteinCoordStr=p.I671V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=55;refseq.start=49511241;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr6 49533480 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=1498.18;QD=11.18;RankSumP=0.112229;SB=-771.44;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.636G>A;refseq.codonCoord=212;refseq.end=49533480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_000255;refseq.name2=MUT;refseq.positionType=CDS;refseq.proteinCoordStr=p.K212K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-118;refseq.start=49533480;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr6 49567937 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=3.55;MQ=98.27;MQ0=0;OQ=2323.62;QD=18.59;RankSumP=0.203604;SB=-773.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.797A>G;refseq.codonCoord=266;refseq.end=49567937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_018132;refseq.name2=CENPQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.D266G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=122;refseq.start=49567937;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 49776364 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.159A>C;refseq.codingCoordStr_2=c.159A>C;refseq.codingCoordStr_3=c.159A>C;refseq.codingCoordStr_4=c.159A>C;refseq.codingCoordStr_5=c.159A>C;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.codonCoord_3=53;refseq.codonCoord_4=53;refseq.codonCoord_5=53;refseq.end_1=49776364;refseq.end_2=49776364;refseq.end_3=49776364;refseq.end_4=49776364;refseq.end_5=49776364;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=415;refseq.mrnaCoord_3=395;refseq.mrnaCoord_4=378;refseq.mrnaCoord_5=421;refseq.name2_1=CRISP2;refseq.name2_2=CRISP2;refseq.name2_3=CRISP2;refseq.name2_4=CRISP2;refseq.name2_5=CRISP2;refseq.name_1=NM_001142407;refseq.name_2=NM_001142408;refseq.name_3=NM_001142417;refseq.name_4=NM_001142435;refseq.name_5=NM_003296;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P53P;refseq.proteinCoordStr_2=p.P53P;refseq.proteinCoordStr_3=p.P53P;refseq.proteinCoordStr_4=p.P53P;refseq.proteinCoordStr_5=p.P53P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.spliceDist_4=-25;refseq.spliceDist_5=-25;refseq.start_1=49776364;refseq.start_2=49776364;refseq.start_3=49776364;refseq.start_4=49776364;refseq.start_5=49776364;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr6 49804432 . G T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=0;HaplotypeScore=19.80;MQ=98.78;MQ0=0;OQ=15241.85;QD=38.59;RankSumP=1.00000;SB=-7465.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.708C>A;refseq.codonCoord=236;refseq.end=49804432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_006061;refseq.name2=CRISP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A236A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=98;refseq.start=49804432;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 49809482 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=405;Dels=0.00;HRun=2;HaplotypeScore=2.10;MQ=98.58;MQ0=0;OQ=17003.51;QD=41.98;RankSumP=1.00000;SB=-6689.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.316T>C;refseq.codonCoord=106;refseq.end=49809482;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_006061;refseq.name2=CRISP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S106P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=39;refseq.start=49809482;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr6 49927697 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.171A>C;refseq.codingCoordStr_2=c.171A>C;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=49927697;refseq.end_2=49927697;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=250;refseq.mrnaCoord_2=250;refseq.name2_1=CRISP1;refseq.name2_2=CRISP1;refseq.name_1=NM_001131;refseq.name_2=NM_170609;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P57P;refseq.proteinCoordStr_2=p.P57P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=49927697;refseq.start_2=49927697;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 50899218 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.221A>C;refseq.codonCoord=74;refseq.end=50899218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_003221;refseq.name2=TFAP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y74S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=140;refseq.start=50899218;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr6 51721136 . C T 402.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=3650.14;QD=42.94;RankSumP=1.00000;SB=-1544.42;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.9237G>A;refseq.codingCoordStr_2=c.9237G>A;refseq.codonCoord_1=3079;refseq.codonCoord_2=3079;refseq.end_1=51721136;refseq.end_2=51721136;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9513;refseq.mrnaCoord_2=9513;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A3079A;refseq.proteinCoordStr_2=p.A3079A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=287;refseq.spliceDist_2=287;refseq.start_1=51721136;refseq.start_2=51721136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 51828797 . T C 327.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.75;MQ0=0;OQ=5714.71;QD=19.44;RankSumP=0.289451;SB=-1276.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.7764A>G;refseq.codingCoordStr_2=c.7764A>G;refseq.codonCoord_1=2588;refseq.codonCoord_2=2588;refseq.end_1=51828797;refseq.end_2=51828797;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8040;refseq.mrnaCoord_2=8040;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2588L;refseq.proteinCoordStr_2=p.L2588L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=51828797;refseq.start_2=51828797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr6 51840766 . C T 178.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=12.48;MQ=98.75;MQ0=0;OQ=4447.46;QD=23.53;RankSumP=0.258777;SB=-1484.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.7587G>A;refseq.codingCoordStr_2=c.7587G>A;refseq.codonCoord_1=2529;refseq.codonCoord_2=2529;refseq.end_1=51840766;refseq.end_2=51840766;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7863;refseq.mrnaCoord_2=7863;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2529G;refseq.proteinCoordStr_2=p.G2529G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=51840766;refseq.start_2=51840766;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr6 51983209 . A C 158.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=14.49;MQ=98.77;MQ0=0;OQ=18336.37;QD=40.84;RankSumP=1.00000;SB=-7501.45;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.5608T>G;refseq.codingCoordStr_2=c.5608T>G;refseq.codonCoord_1=1870;refseq.codonCoord_2=1870;refseq.end_1=51983209;refseq.end_2=51983209;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5884;refseq.mrnaCoord_2=5884;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1870V;refseq.proteinCoordStr_2=p.L1870V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=51983209;refseq.start_2=51983209;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr6 51998782 . G A 243.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=3.51;MQ=98.38;MQ0=0;OQ=4065.36;QD=35.05;RankSumP=1.00000;SB=-1328.72;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3785C>T;refseq.codingCoordStr_2=c.3785C>T;refseq.codonCoord_1=1262;refseq.codonCoord_2=1262;refseq.end_1=51998782;refseq.end_2=51998782;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4061;refseq.mrnaCoord_2=4061;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1262V;refseq.proteinCoordStr_2=p.A1262V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=157;refseq.spliceDist_2=157;refseq.start_1=51998782;refseq.start_2=51998782;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr6 52022915 . G A 310.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=98.51;MQ0=0;OQ=7897.80;QD=39.49;RankSumP=1.00000;SB=-2261.50;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2278C>T;refseq.codingCoordStr_2=c.2278C>T;refseq.codonCoord_1=760;refseq.codonCoord_2=760;refseq.end_1=52022915;refseq.end_2=52022915;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2554;refseq.mrnaCoord_2=2554;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R760C;refseq.proteinCoordStr_2=p.R760C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=52022915;refseq.start_2=52022915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr6 52028358 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1822G>A;refseq.codingCoordStr_2=c.1822G>A;refseq.codonCoord_1=608;refseq.codonCoord_2=608;refseq.end_1=52028358;refseq.end_2=52028358;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2098;refseq.mrnaCoord_2=2098;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D608N;refseq.proteinCoordStr_2=p.D608N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=52028358;refseq.start_2=52028358;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 0/1 chr6 52028424 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1756T>G;refseq.codingCoordStr_2=c.1756T>G;refseq.codonCoord_1=586;refseq.codonCoord_2=586;refseq.end_1=52028424;refseq.end_2=52028424;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2032;refseq.mrnaCoord_2=2032;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F586V;refseq.proteinCoordStr_2=p.F586V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=52028424;refseq.start_2=52028424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr6 52032733 . A G 313.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=6.08;MQ=98.86;MQ0=0;OQ=12428.95;QD=39.71;RankSumP=1.00000;SB=-5277.66;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1185T>C;refseq.codingCoordStr_2=c.1185T>C;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.end_1=52032733;refseq.end_2=52032733;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1461;refseq.mrnaCoord_2=1461;refseq.name2_1=PKHD1;refseq.name2_2=PKHD1;refseq.name_1=NM_138694;refseq.name_2=NM_170724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D395D;refseq.proteinCoordStr_2=p.D395D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=52032733;refseq.start_2=52032733;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 52376135 . C A 60 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=6.07663e-06;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.165C>A;refseq.codonCoord=55;refseq.end=52376135;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_133367;refseq.name2=PAQR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y55*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=217;refseq.start=52376135;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr6 52451858 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.65;MQ0=0;OQ=646.64;QD=11.97;RankSumP=0.360523;SB=-208.66;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.1286T>C;refseq.codingCoordStr_3=c.1343T>C;refseq.codonCoord_2=429;refseq.codonCoord_3=448;refseq.end_1=52451858;refseq.end_2=52451858;refseq.end_3=52451858;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2815;refseq.mrnaCoord_2=1470;refseq.mrnaCoord_3=1558;refseq.name2_1=EFHC1;refseq.name2_2=EFHC1;refseq.name2_3=EFHC1;refseq.name_1=NR_033327;refseq.name_2=NM_001172420;refseq.name_3=NM_018100;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.M429T;refseq.proteinCoordStr_3=p.M448T;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.start_1=52451858;refseq.start_2=52451858;refseq.start_3=52451858;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr6 52725690 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=699;Dels=0.00;HRun=0;HaplotypeScore=14.95;MQ=98.17;MQ0=0;OQ=16981.45;QD=24.29;RankSumP=0.460347;SB=-4545.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.335G>C;refseq.codonCoord=112;refseq.end=52725690;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_000846;refseq.name2=GSTA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S112T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=63;refseq.start=52725690;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr6 52766921 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=904;Dels=0.00;HRun=1;HaplotypeScore=23.44;MQ=92.83;MQ0=11;OQ=18014.99;QD=19.93;RankSumP=0.378963;SB=-6175.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.375A>G;refseq.codonCoord=125;refseq.end=52766921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_145740;refseq.name2=GSTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K125K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-40;refseq.start=52766921;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 52809102 . C T 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=2;HaplotypeScore=4.55;MQ=96.35;MQ0=0;OQ=18489.97;QD=43.30;RankSumP=1.00000;SB=-5156.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.163G>A;refseq.codonCoord=55;refseq.end=52809102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_153699;refseq.name2=GSTA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V55I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=24;refseq.start=52809102;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 52957301 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=420;Dels=0.00;HRun=1;HaplotypeScore=19.09;MQ=98.65;MQ0=0;OQ=8153.80;QD=19.41;RankSumP=0.478312;SB=-2633.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.334T>C;refseq.codonCoord=112;refseq.end=52957301;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_001512;refseq.name2=GSTA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L112L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=62;refseq.start=52957301;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr6 53624835 . T G 224.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.59;MQ0=0;OQ=936.90;QD=33.46;RankSumP=1.00000;SB=-416.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1425A>C;refseq.codonCoord=475;refseq.end=53624835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_001003760;refseq.name2=KLHL31;refseq.positionType=CDS;refseq.proteinCoordStr=p.I475I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=253;refseq.start=53624835;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 53624994 . G A 271.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.76;MQ0=0;OQ=1736.10;QD=16.08;RankSumP=0.264824;SB=-762.85;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1266C>T;refseq.codonCoord=422;refseq.end=53624994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1407;refseq.name=NM_001003760;refseq.name2=KLHL31;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y422Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=94;refseq.start=53624994;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 53627021 . A G 157.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=8.82;MQ=98.61;MQ0=0;OQ=4136.09;QD=20.58;RankSumP=0.464153;SB=-1256.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1009T>C;refseq.codonCoord=337;refseq.end=53627021;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1150;refseq.name=NM_001003760;refseq.name2=KLHL31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L337L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-164;refseq.start=53627021;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 53627564 . C T 431 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.93;MQ0=0;OQ=10529.02;QD=41.29;RankSumP=1.00000;SB=-3252.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.466G>A;refseq.codonCoord=156;refseq.end=53627564;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_001003760;refseq.name2=KLHL31;refseq.positionType=CDS;refseq.proteinCoordStr=p.V156I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=499;refseq.start=53627564;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 53627816 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=9.32;MQ=98.96;MQ0=0;OQ=3118.29;QD=13.10;RankSumP=0.0582401;SB=-913.46;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.214C>T;refseq.codonCoord=72;refseq.end=53627816;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_001003760;refseq.name2=KLHL31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L72L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=247;refseq.start=53627816;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr6 53870051 . A G 232.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.16;MQ0=0;OQ=2120.40;QD=17.82;RankSumP=0.449686;SB=-397.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.577A>G;refseq.codonCoord=193;refseq.end=53870051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_018214;refseq.name2=LRRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I193V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=53870051;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 54097485 . G A 423.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=98.54;MQ0=0;OQ=3462.52;QD=40.74;RankSumP=1.00000;SB=-1358.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.475G>A;refseq.codonCoord=159;refseq.end=54097485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_138569;refseq.name2=C6orf142;refseq.positionType=CDS;refseq.proteinCoordStr=p.V159I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-138;refseq.start=54097485;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 54162645 . T A 324.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.76;MQ0=0;OQ=11164.04;QD=40.89;RankSumP=1.00000;SB=-4331.05;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.958T>A;refseq.codonCoord=320;refseq.end=54162645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_138569;refseq.name2=C6orf142;refseq.positionType=CDS;refseq.proteinCoordStr=p.S320T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=19;refseq.start=54162645;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr6 54294106 . T C 339.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.93;MQ0=0;OQ=5525.12;QD=41.86;RankSumP=1.00000;SB=-2533.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.472T>C;refseq.codonCoord=158;refseq.end=54294106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_014464;refseq.name2=TINAG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S158P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-38;refseq.start=54294106;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr6 54362548 . A C 332.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=98.88;MQ0=0;OQ=8306.12;QD=19.05;RankSumP=0.121821;SB=-2031.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1297A>C;refseq.codonCoord=433;refseq.end=54362548;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_014464;refseq.name2=TINAG;refseq.positionType=CDS;refseq.proteinCoordStr=p.I433L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=54362548;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr6 54843081 . A G 137.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=518;Dels=0.00;HRun=0;HaplotypeScore=9.73;MQ=98.73;MQ0=0;OQ=19300.83;QD=37.26;RankSumP=1.00000;SB=-9023.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.78A>G;refseq.codonCoord=26;refseq.end=54843081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_001010872;refseq.name2=FAM83B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E26E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=138;refseq.start=54843081;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 54914651 . T G 26.12 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=177;Dels=0.00;HRun=2;HaplotypeScore=22.56;MQ=96.59;MQ0=0;QD=0.15;RankSumP=0.00000;SB=293.95;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2923T>G;refseq.codonCoord=975;refseq.end=54914651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3039;refseq.name=NM_001010872;refseq.name2=FAM83B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S975A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-128;refseq.start=54914651;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr6 55250296 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=24.36;MQ=98.15;MQ0=0;OQ=2120.07;QD=12.54;RankSumP=0.332328;SB=-1051.18;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.922A>G;refseq.codonCoord=308;refseq.end=55250296;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1237;refseq.name=NM_001526;refseq.name2=HCRTR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I308V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-62;refseq.start=55250296;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 55374584 . T C 243.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.96;MQ0=0;OQ=1459.36;QD=37.42;RankSumP=1.00000;SB=-592.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1159T>C;refseq.codonCoord=387;refseq.end=55374584;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_207410;refseq.name2=GFRAL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S387P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=38;refseq.start=55374584;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr6 55847276 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.347A>C;refseq.codonCoord=116;refseq.end=55847276;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_021073;refseq.name2=BMP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y116S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-144;refseq.start=55847276;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr6 56590760 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=0;HaplotypeScore=14.13;MQ=98.91;MQ0=0;OQ=12062.94;QD=26.45;RankSumP=0.496607;SB=-3589.75;SecondBestBaseQ=33;refseq.changesAA_7=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.codingCoordStr_7=c.6031G>C;refseq.codonCoord_7=2011;refseq.end_1=56597276;refseq.end_2=56597276;refseq.end_3=56597276;refseq.end_4=56597276;refseq.end_5=56597276;refseq.end_6=56597276;refseq.end_7=56590760;refseq.frame_7=0;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_7=6139;refseq.name2_1=DST;refseq.name2_2=DST;refseq.name2_3=DST;refseq.name2_4=DST;refseq.name2_5=DST;refseq.name2_6=DST;refseq.name2_7=DST;refseq.name_1=NM_001144769;refseq.name_2=NM_001144770;refseq.name_3=NM_001144771;refseq.name_4=NM_015548;refseq.name_5=NM_020388;refseq.name_6=NM_183380;refseq.name_7=NM_001723;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.proteinCoordStr_7=p.V2011L;refseq.referenceAA_7=Val;refseq.referenceCodon_7=GTT;refseq.spliceDist_7=-18;refseq.start_1=56587252;refseq.start_2=56587252;refseq.start_3=56587252;refseq.start_4=56587252;refseq.start_5=56587252;refseq.start_6=56587252;refseq.start_7=56590760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_7=Leu;refseq.variantCodon_7=CTT;set=Intersection GT 1/0 chr6 56592717 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=627;Dels=0.00;HRun=2;HaplotypeScore=56.99;MQ=98.50;MQ0=0;OQ=10833.90;QD=17.28;RankSumP=0.342799;SB=-3595.44;SecondBestBaseQ=17;refseq.changesAA_7=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.codingCoordStr_7=c.4074G>A;refseq.codonCoord_7=1358;refseq.end_1=56597276;refseq.end_2=56597276;refseq.end_3=56597276;refseq.end_4=56597276;refseq.end_5=56597276;refseq.end_6=56597276;refseq.end_7=56592717;refseq.frame_7=2;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_7=4182;refseq.name2_1=DST;refseq.name2_2=DST;refseq.name2_3=DST;refseq.name2_4=DST;refseq.name2_5=DST;refseq.name2_6=DST;refseq.name2_7=DST;refseq.name_1=NM_001144769;refseq.name_2=NM_001144770;refseq.name_3=NM_001144771;refseq.name_4=NM_015548;refseq.name_5=NM_020388;refseq.name_6=NM_183380;refseq.name_7=NM_001723;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.proteinCoordStr_7=p.K1358K;refseq.referenceAA_7=Lys;refseq.referenceCodon_7=AAG;refseq.spliceDist_7=756;refseq.start_1=56587252;refseq.start_2=56587252;refseq.start_3=56587252;refseq.start_4=56587252;refseq.start_5=56587252;refseq.start_6=56587252;refseq.start_7=56592717;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_7=Lys;refseq.variantCodon_7=AAA;set=Intersection GT 0/1 chr6 57026606 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=563.34;QD=20.86;RankSumP=0.512114;SB=-123.85;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1350T>C;refseq.codonCoord=450;refseq.end=57026606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1520;refseq.name=NM_020931;refseq.name2=KIAA1586;refseq.positionType=CDS;refseq.proteinCoordStr=p.I450I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1164;refseq.start=57026606;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr6 62448875 . T C 307.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.71;MQ0=0;OQ=10236.21;QD=41.78;RankSumP=1.00000;SB=-4757.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1002A>G;refseq.codonCoord=334;refseq.end=62448875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1249;refseq.name=NM_152688;refseq.name2=KHDRBS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q334Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=50;refseq.start=62448875;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr6 62945058 . C T 307.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.30;MQ0=0;OQ=6013.58;QD=42.95;RankSumP=1.00000;SB=-2730.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.210G>A;refseq.codonCoord=70;refseq.end=62945058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_152688;refseq.name2=KHDRBS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q70Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=62945058;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr6 66169130 . A G 116.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1607.33;QD=13.28;RankSumP=0.180268;SB=-683.24;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1146T>C;refseq.codingCoordStr_2=c.1146T>C;refseq.codingCoordStr_3=c.1146T>C;refseq.codonCoord_1=382;refseq.codonCoord_2=382;refseq.codonCoord_3=382;refseq.end_1=66169130;refseq.end_2=66169130;refseq.end_3=66169130;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1684;refseq.mrnaCoord_2=1684;refseq.mrnaCoord_3=1543;refseq.name2_1=EYS;refseq.name2_2=EYS;refseq.name2_3=EYS;refseq.name_1=NM_001142800;refseq.name_2=NM_001142801;refseq.name_3=NM_198283;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N382N;refseq.proteinCoordStr_2=p.N382N;refseq.proteinCoordStr_3=p.N382N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=66169130;refseq.start_2=66169130;refseq.start_3=66169130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 0/1 chr6 66261666 . G A 193.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=15.46;MQ=98.81;MQ0=0;OQ=4732.49;QD=22.64;RankSumP=0.139932;SB=-1838.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.359C>T;refseq.codingCoordStr_2=c.359C>T;refseq.codingCoordStr_3=c.359C>T;refseq.codonCoord_1=120;refseq.codonCoord_2=120;refseq.codonCoord_3=120;refseq.end_1=66261666;refseq.end_2=66261666;refseq.end_3=66261666;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=897;refseq.mrnaCoord_2=897;refseq.mrnaCoord_3=756;refseq.name2_1=EYS;refseq.name2_2=EYS;refseq.name2_3=EYS;refseq.name_1=NM_001142800;refseq.name_2=NM_001142801;refseq.name_3=NM_198283;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T120M;refseq.proteinCoordStr_2=p.T120M;refseq.proteinCoordStr_3=p.T120M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-390;refseq.spliceDist_2=-390;refseq.spliceDist_3=-390;refseq.start_1=66261666;refseq.start_2=66261666;refseq.start_3=66261666;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr6 69723405 . A G 434.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.12;MQ0=0;OQ=6154.02;QD=41.03;RankSumP=1.00000;SB=-2313.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1508A>G;refseq.codonCoord=503;refseq.end=69723405;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_001704;refseq.name2=BAI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N503S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-18;refseq.start=69723405;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr6 70105611 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3271A>C;refseq.codonCoord=1091;refseq.end=70105611;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3719;refseq.name=NM_001704;refseq.name2=BAI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1091P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-17;refseq.start=70105611;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 70127894 . G A 407.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=9107.40;QD=41.59;RankSumP=1.00000;SB=-3128.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4008G>A;refseq.codonCoord=1336;refseq.end=70127894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4456;refseq.name=NM_001704;refseq.name2=BAI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1336P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-232;refseq.start=70127894;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr6 70464186 . A T 156.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=99.00;MQ0=0;OQ=2295.10;QD=15.10;RankSumP=0.180729;SB=-1047.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1407T>A;refseq.codonCoord=469;refseq.end=70464186;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1683;refseq.name=NM_018368;refseq.name2=LMBRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D469E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-11;refseq.start=70464186;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 70563449 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.46T>G;refseq.codonCoord=16;refseq.end=70563449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_018368;refseq.name2=LMBRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C16G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-24;refseq.start=70563449;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr6 70694620 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.365T>G;refseq.codonCoord=122;refseq.end=70694620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=482;refseq.name=NM_001858;refseq.name2=COL19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V122G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-26;refseq.start=70694620;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr6 70923330 . C T 387.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=3505.66;QD=41.24;RankSumP=1.00000;SB=-790.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2286C>T;refseq.codonCoord=762;refseq.end=70923330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2403;refseq.name=NM_001858;refseq.name2=COL19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G762G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=70923330;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr6 70946945 . G A 249.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.88;MQ0=0;OQ=5100.22;QD=20.48;RankSumP=0.182919;SB=-2110.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2688G>A;refseq.codonCoord=896;refseq.end=70946945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2805;refseq.name=NM_001858;refseq.name2=COL19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G896G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=21;refseq.start=70946945;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr6 70973609 . A C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=97.40;MQ0=0;OQ=2916.85;QD=38.89;RankSumP=1.00000;SB=-515.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3339A>C;refseq.codonCoord=1113;refseq.end=70973609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3456;refseq.name=NM_001858;refseq.name2=COL19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1113P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=38;refseq.start=70973609;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr6 71000978 . T C 361.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.69;MQ0=0;OQ=5471.30;QD=18.00;RankSumP=0.393292;SB=-1908.31;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2299A>G;refseq.codingCoordStr_2=c.1570A>G;refseq.codonCoord_1=767;refseq.codonCoord_2=524;refseq.end_1=71000978;refseq.end_2=71000978;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2458;refseq.mrnaCoord_2=1726;refseq.name2_1=COL9A1;refseq.name2_2=COL9A1;refseq.name_1=NM_001851;refseq.name_2=NM_078485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M767V;refseq.proteinCoordStr_2=p.M524V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=71000978;refseq.start_2=71000978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr6 71018554 . T C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=4;HaplotypeScore=4.00;MQ=98.68;MQ0=0;OQ=6426.54;QD=36.93;RankSumP=1.00000;SB=-2594.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1862A>G;refseq.codingCoordStr_2=c.1133A>G;refseq.codonCoord_1=621;refseq.codonCoord_2=378;refseq.end_1=71018554;refseq.end_2=71018554;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2021;refseq.mrnaCoord_2=1289;refseq.name2_1=COL9A1;refseq.name2_2=COL9A1;refseq.name_1=NM_001851;refseq.name_2=NM_078485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q621R;refseq.proteinCoordStr_2=p.Q378R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=71018554;refseq.start_2=71018554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr6 71041157 . A G 248.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=1;HaplotypeScore=5.96;MQ=98.92;MQ0=0;OQ=4596.70;QD=19.99;RankSumP=0.112957;SB=-1426.18;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1015T>C;refseq.codingCoordStr_2=c.286T>C;refseq.codonCoord_1=339;refseq.codonCoord_2=96;refseq.end_1=71041157;refseq.end_2=71041157;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1174;refseq.mrnaCoord_2=442;refseq.name2_1=COL9A1;refseq.name2_2=COL9A1;refseq.name_1=NM_001851;refseq.name_2=NM_078485;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S339P;refseq.proteinCoordStr_2=p.S96P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=71041157;refseq.start_2=71041157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr6 71243739 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.525A>C;refseq.codingCoordStr_2=c.525A>C;refseq.codingCoordStr_3=c.396A>C;refseq.codonCoord_1=175;refseq.codonCoord_2=175;refseq.codonCoord_3=132;refseq.end_1=71243739;refseq.end_2=71243739;refseq.end_3=71243739;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1043;refseq.mrnaCoord_2=658;refseq.mrnaCoord_3=828;refseq.name2_1=FAM135A;refseq.name2_2=FAM135A;refseq.name2_3=FAM135A;refseq.name_1=NM_001105531;refseq.name_2=NM_001162529;refseq.name_3=NM_020819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L175L;refseq.proteinCoordStr_2=p.L175L;refseq.proteinCoordStr_3=p.L132L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=71243739;refseq.start_2=71243739;refseq.start_3=71243739;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=FilteredInAll GT 0/1 chr6 71243741 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=243;Dels=0.00;HRun=2;HaplotypeScore=26.47;MQ=95.65;MQ0=0;OQ=267.14;QD=1.10;RankSumP=1.18850e-07;SB=221.66;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.527A>C;refseq.codingCoordStr_2=c.527A>C;refseq.codingCoordStr_3=c.398A>C;refseq.codonCoord_1=176;refseq.codonCoord_2=176;refseq.codonCoord_3=133;refseq.end_1=71243741;refseq.end_2=71243741;refseq.end_3=71243741;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1045;refseq.mrnaCoord_2=660;refseq.mrnaCoord_3=830;refseq.name2_1=FAM135A;refseq.name2_2=FAM135A;refseq.name2_3=FAM135A;refseq.name_1=NM_001105531;refseq.name_2=NM_001162529;refseq.name_3=NM_020819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H176P;refseq.proteinCoordStr_2=p.H176P;refseq.proteinCoordStr_3=p.H133P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=71243741;refseq.start_2=71243741;refseq.start_3=71243741;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr6 71294826 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=532;Dels=0.00;HRun=2;HaplotypeScore=14.93;MQ=98.83;MQ0=0;OQ=10421.71;QD=19.59;RankSumP=0.333703;SB=-3768.28;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.3137A>G;refseq.codingCoordStr_2=c.3725A>G;refseq.codingCoordStr_3=c.3086A>G;refseq.codonCoord_1=1046;refseq.codonCoord_2=1242;refseq.codonCoord_3=1029;refseq.end_1=71294826;refseq.end_2=71294826;refseq.end_3=71294826;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3655;refseq.mrnaCoord_2=3858;refseq.mrnaCoord_3=3518;refseq.name2_1=FAM135A;refseq.name2_2=FAM135A;refseq.name2_3=FAM135A;refseq.name_1=NM_001105531;refseq.name_2=NM_001162529;refseq.name_3=NM_020819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D1046G;refseq.proteinCoordStr_2=p.D1242G;refseq.proteinCoordStr_3=p.D1029G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=71294826;refseq.start_2=71294826;refseq.start_3=71294826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr6 71660550 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr6;refseq.codingCoordStr=c.736+2;refseq.end=71660550;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_080742;refseq.name2=B3GAT2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=71660550;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 71660585 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.703A>G;refseq.codonCoord=235;refseq.end=71660585;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_080742;refseq.name2=B3GAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R235G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-34;refseq.start=71660585;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr6 73388761 . C G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=7;HRun=2;RankSumP=0.642857;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.123C>G;refseq.codingCoordStr_2=c.123C>G;refseq.codingCoordStr_3=c.123C>G;refseq.codingCoordStr_4=c.123C>G;refseq.codingCoordStr_5=c.123C>G;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.codonCoord_3=41;refseq.codonCoord_4=41;refseq.codonCoord_5=41;refseq.end_1=73388761;refseq.end_2=73388761;refseq.end_3=73388761;refseq.end_4=73388761;refseq.end_5=73388761;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=470;refseq.mrnaCoord_2=470;refseq.mrnaCoord_3=470;refseq.mrnaCoord_4=470;refseq.mrnaCoord_5=470;refseq.name2_1=KCNQ5;refseq.name2_2=KCNQ5;refseq.name2_3=KCNQ5;refseq.name2_4=KCNQ5;refseq.name2_5=KCNQ5;refseq.name_1=NM_001160130;refseq.name_2=NM_001160132;refseq.name_3=NM_001160133;refseq.name_4=NM_001160134;refseq.name_5=NM_019842;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S41S;refseq.proteinCoordStr_2=p.S41S;refseq.proteinCoordStr_3=p.S41S;refseq.proteinCoordStr_4=p.S41S;refseq.proteinCoordStr_5=p.S41S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=-276;refseq.spliceDist_2=-276;refseq.spliceDist_3=-276;refseq.spliceDist_4=-276;refseq.spliceDist_5=-276;refseq.start_1=73388761;refseq.start_2=73388761;refseq.start_3=73388761;refseq.start_4=73388761;refseq.start_5=73388761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;set=FilteredInAll GT 1/0 chr6 73388842 . C T 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=91.35;MQ0=0;OQ=50.02;QD=25.01;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.codingCoordStr_1=c.204C>T;refseq.codingCoordStr_2=c.204C>T;refseq.codingCoordStr_3=c.204C>T;refseq.codingCoordStr_4=c.204C>T;refseq.codingCoordStr_5=c.204C>T;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.codonCoord_4=68;refseq.codonCoord_5=68;refseq.end_1=73388842;refseq.end_2=73388842;refseq.end_3=73388842;refseq.end_4=73388842;refseq.end_5=73388842;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=551;refseq.mrnaCoord_3=551;refseq.mrnaCoord_4=551;refseq.mrnaCoord_5=551;refseq.name2_1=KCNQ5;refseq.name2_2=KCNQ5;refseq.name2_3=KCNQ5;refseq.name2_4=KCNQ5;refseq.name2_5=KCNQ5;refseq.name_1=NM_001160130;refseq.name_2=NM_001160132;refseq.name_3=NM_001160133;refseq.name_4=NM_001160134;refseq.name_5=NM_019842;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L68L;refseq.proteinCoordStr_2=p.L68L;refseq.proteinCoordStr_3=p.L68L;refseq.proteinCoordStr_4=p.L68L;refseq.proteinCoordStr_5=p.L68L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_1=-195;refseq.spliceDist_2=-195;refseq.spliceDist_3=-195;refseq.spliceDist_4=-195;refseq.spliceDist_5=-195;refseq.start_1=73388842;refseq.start_2=73388842;refseq.start_3=73388842;refseq.start_4=73388842;refseq.start_5=73388842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;set=filterInsoap-gatk GT 1/1 chr6 74130252 . C G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=98.59;MQ0=0;OQ=2402.76;QD=43.69;RankSumP=1.00000;SB=-924.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.602C>G;refseq.codonCoord=201;refseq.end=74130252;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_001017361;refseq.name2=C6orf221;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=253;refseq.start=74130252;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr6 74182596 . A G 422.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.41;MQ0=0;OQ=4046.87;QD=41.72;RankSumP=1.00000;SB=-1577.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1873A>G;refseq.codonCoord=625;refseq.end=74182596;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2217;refseq.name=NM_018665;refseq.name2=DDX43;refseq.positionType=CDS;refseq.proteinCoordStr=p.K625E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=40;refseq.start=74182596;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 74182609 . A G 296.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=4033.47;QD=38.05;RankSumP=1.00000;SB=-2001.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1886A>G;refseq.codonCoord=629;refseq.end=74182609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2230;refseq.name=NM_018665;refseq.name2=DDX43;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q629R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=53;refseq.start=74182609;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 74191737 . C T 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1214.18;QD=43.36;RankSumP=1.00000;SB=-600.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1503G>A;refseq.codonCoord=501;refseq.end=74191737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1642;refseq.name=NM_138441;refseq.name2=C6orf150;refseq.positionType=CDS;refseq.proteinCoordStr=p.K501K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-161;refseq.start=74191737;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr6 74212067 . G T 398.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2966.57;QD=38.03;RankSumP=1.00000;SB=-1185.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.782C>A;refseq.codonCoord=261;refseq.end=74212067;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_138441;refseq.name2=C6orf150;refseq.positionType=CDS;refseq.proteinCoordStr=p.P261H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-96;refseq.start=74212067;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr6 74218224 . A G 22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=14;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.79;MQ0=0;OQ=438.63;QD=31.33;RankSumP=1.00000;SB=-49.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.402T>C;refseq.codonCoord=134;refseq.end=74218224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_138441;refseq.name2=C6orf150;refseq.positionType=CDS;refseq.proteinCoordStr=p.P134P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-256;refseq.start=74218224;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr6 74218522 . G T 77.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=457.89;QD=32.71;RankSumP=1.00000;SB=-50.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.104C>A;refseq.codonCoord=35;refseq.end=74218522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_138441;refseq.name2=C6orf150;refseq.positionType=CDS;refseq.proteinCoordStr=p.T35N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=243;refseq.start=74218522;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr6 74284661 rs11556677 A C 0.16 PASS AC=1;AF=0.50;AN=2;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=2.71;MQ=53.70;MQ0=60;OQ=981.66;QD=4.20;SB=-335.23;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1077T>G;refseq.codonCoord=359;refseq.end=74284661;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1140;refseq.name=NM_001402;refseq.name2=EEF1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P359P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=48;refseq.start=74284661;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:166,68:153:-147.52,-46.07,-464.45:99 chr6 74388364 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.862T>C;refseq.codonCoord=288;refseq.end=74388364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_012434;refseq.name2=SLC17A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S288P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=43;refseq.start=74388364;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 74404863 . T C 212.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.96;MQ0=0;OQ=3034.60;QD=16.06;RankSumP=0.243224;SB=-510.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.606A>G;refseq.codonCoord=202;refseq.end=74404863;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_012434;refseq.name2=SLC17A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S202S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=74404863;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr6 74408303 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=511;Dels=0.00;HRun=1;HaplotypeScore=39.24;MQ=97.65;MQ0=0;OQ=2336.42;QD=4.57;RankSumP=0.00000;SB=793.60;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.357C>A;refseq.codonCoord=119;refseq.end=74408303;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_012434;refseq.name2=SLC17A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y119*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=66;refseq.start=74408303;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr6 74523098 . C T 140.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=5.93;MQ=98.56;MQ0=0;OQ=11792.83;QD=43.52;RankSumP=1.00000;SB=-5639.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.645C>T;refseq.codingCoordStr_2=c.414C>T;refseq.codingCoordStr_3=c.645C>T;refseq.codonCoord_1=215;refseq.codonCoord_2=138;refseq.codonCoord_3=215;refseq.end_1=74523098;refseq.end_2=74523098;refseq.end_3=74523098;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=845;refseq.mrnaCoord_3=1070;refseq.name2_1=CD109;refseq.name2_2=CD109;refseq.name2_3=CD109;refseq.name_1=NM_001159587;refseq.name_2=NM_001159588;refseq.name_3=NM_133493;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y215Y;refseq.proteinCoordStr_2=p.Y138Y;refseq.proteinCoordStr_3=p.Y215Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.start_1=74523098;refseq.start_2=74523098;refseq.start_3=74523098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/1 chr6 74530121 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1099A>C;refseq.codingCoordStr_2=c.868A>C;refseq.codingCoordStr_3=c.1099A>C;refseq.codonCoord_1=367;refseq.codonCoord_2=290;refseq.codonCoord_3=367;refseq.end_1=74530121;refseq.end_2=74530121;refseq.end_3=74530121;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1530;refseq.mrnaCoord_2=1299;refseq.mrnaCoord_3=1524;refseq.name2_1=CD109;refseq.name2_2=CD109;refseq.name2_3=CD109;refseq.name_1=NM_001159587;refseq.name_2=NM_001159588;refseq.name_3=NM_133493;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T367P;refseq.proteinCoordStr_2=p.T290P;refseq.proteinCoordStr_3=p.T367P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=74530121;refseq.start_2=74530121;refseq.start_3=74530121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr6 74550153 . A C 277.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=4514.91;QD=41.80;RankSumP=1.00000;SB=-1085.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2108A>C;refseq.codingCoordStr_2=c.1877A>C;refseq.codingCoordStr_3=c.2108A>C;refseq.codonCoord_1=703;refseq.codonCoord_2=626;refseq.codonCoord_3=703;refseq.end_1=74550153;refseq.end_2=74550153;refseq.end_3=74550153;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2539;refseq.mrnaCoord_2=2308;refseq.mrnaCoord_3=2533;refseq.name2_1=CD109;refseq.name2_2=CD109;refseq.name2_3=CD109;refseq.name_1=NM_001159587;refseq.name_2=NM_001159588;refseq.name_3=NM_133493;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y703S;refseq.proteinCoordStr_2=p.Y626S;refseq.proteinCoordStr_3=p.Y703S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=74550153;refseq.start_2=74550153;refseq.start_3=74550153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr6 74553730 . A G 340.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=7.67;MQ=98.97;MQ0=0;OQ=5134.87;QD=20.30;RankSumP=0.124325;SB=-1435.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2390A>G;refseq.codingCoordStr_2=c.2159A>G;refseq.codingCoordStr_3=c.2390A>G;refseq.codonCoord_1=797;refseq.codonCoord_2=720;refseq.codonCoord_3=797;refseq.end_1=74553730;refseq.end_2=74553730;refseq.end_3=74553730;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2821;refseq.mrnaCoord_2=2590;refseq.mrnaCoord_3=2815;refseq.name2_1=CD109;refseq.name2_2=CD109;refseq.name2_3=CD109;refseq.name_1=NM_001159587;refseq.name_2=NM_001159588;refseq.name_3=NM_133493;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N797S;refseq.proteinCoordStr_2=p.N720S;refseq.proteinCoordStr_3=p.N797S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=74553730;refseq.start_2=74553730;refseq.start_3=74553730;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr6 74553873 . G A 309.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.89;MQ=98.67;MQ0=0;OQ=5817.26;QD=20.78;RankSumP=0.234950;SB=-1296.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2533G>A;refseq.codingCoordStr_2=c.2302G>A;refseq.codingCoordStr_3=c.2533G>A;refseq.codonCoord_1=845;refseq.codonCoord_2=768;refseq.codonCoord_3=845;refseq.end_1=74553873;refseq.end_2=74553873;refseq.end_3=74553873;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2964;refseq.mrnaCoord_2=2733;refseq.mrnaCoord_3=2958;refseq.name2_1=CD109;refseq.name2_2=CD109;refseq.name2_3=CD109;refseq.name_1=NM_001159587;refseq.name_2=NM_001159588;refseq.name_3=NM_133493;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V845I;refseq.proteinCoordStr_2=p.V768I;refseq.proteinCoordStr_3=p.V845I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=74553873;refseq.start_2=74553873;refseq.start_3=74553873;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/0 chr6 75854022 . C T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=446;Dels=0.00;HRun=2;HaplotypeScore=3.11;MQ=98.59;MQ0=0;OQ=19325.40;QD=43.33;RankSumP=1.00000;SB=-8861.03;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.9172G>A;refseq.codingCoordStr_2=c.5680G>A;refseq.codonCoord_1=3058;refseq.codonCoord_2=1894;refseq.end_1=75854022;refseq.end_2=75854022;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9338;refseq.mrnaCoord_2=5846;refseq.name2_1=COL12A1;refseq.name2_2=COL12A1;refseq.name_1=NM_004370;refseq.name_2=NM_080645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3058S;refseq.proteinCoordStr_2=p.G1894S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=75854022;refseq.start_2=75854022;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr6 75887770 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0945032;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.7054G>T;refseq.codingCoordStr_2=c.3562G>T;refseq.codonCoord_1=2352;refseq.codonCoord_2=1188;refseq.end_1=75887770;refseq.end_2=75887770;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7220;refseq.mrnaCoord_2=3728;refseq.name2_1=COL12A1;refseq.name2_2=COL12A1;refseq.name_1=NM_004370;refseq.name_2=NM_080645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2352C;refseq.proteinCoordStr_2=p.G1188C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=75887770;refseq.start_2=75887770;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=FilteredInAll GT 1/0 chr6 75898442 . A T 317.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=98.95;MQ0=0;OQ=13654.38;QD=37.93;RankSumP=1.00000;SB=-4220.45;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.5871T>A;refseq.codingCoordStr_2=c.2379T>A;refseq.codonCoord_1=1957;refseq.codonCoord_2=793;refseq.end_1=75898442;refseq.end_2=75898442;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6037;refseq.mrnaCoord_2=2545;refseq.name2_1=COL12A1;refseq.name2_2=COL12A1;refseq.name_1=NM_004370;refseq.name_2=NM_080645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1957A;refseq.proteinCoordStr_2=p.A793A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=75898442;refseq.start_2=75898442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 76081080 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=474;Dels=0.00;HRun=1;HaplotypeScore=7.97;MQ=98.92;MQ0=0;OQ=9494.26;QD=20.03;RankSumP=0.365306;SB=-3789.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=76081080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1561;refseq.name=NM_015687;refseq.name2=FILIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E396E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=559;refseq.start=76081080;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 76401151 . C T 385.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=4648.45;QD=41.88;RankSumP=1.00000;SB=-885.38;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.362C>T;refseq.codingCoordStr_2=c.362C>T;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=76401151;refseq.end_2=76401151;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=981;refseq.mrnaCoord_2=981;refseq.name2_1=SENP6;refseq.name2_2=SENP6;refseq.name_1=NM_001100409;refseq.name_2=NM_015571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T121M;refseq.proteinCoordStr_2=p.T121M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=76401151;refseq.start_2=76401151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr6 76425774 . A G 265.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3504.18;QD=42.22;RankSumP=1.00000;SB=-1001.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.606A>G;refseq.codingCoordStr_2=c.627A>G;refseq.codonCoord_1=202;refseq.codonCoord_2=209;refseq.end_1=76425774;refseq.end_2=76425774;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1225;refseq.mrnaCoord_2=1246;refseq.name2_1=SENP6;refseq.name2_2=SENP6;refseq.name_1=NM_001100409;refseq.name_2=NM_015571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R202R;refseq.proteinCoordStr_2=p.R209R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=76425774;refseq.start_2=76425774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr6 76433272 . G A 124.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=15.99;MQ=99.00;MQ0=0;OQ=12678.25;QD=41.84;RankSumP=1.00000;SB=-6186.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1098G>A;refseq.codingCoordStr_2=c.1119G>A;refseq.codonCoord_1=366;refseq.codonCoord_2=373;refseq.end_1=76433272;refseq.end_2=76433272;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1717;refseq.mrnaCoord_2=1738;refseq.name2_1=SENP6;refseq.name2_2=SENP6;refseq.name_1=NM_001100409;refseq.name_2=NM_015571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A366A;refseq.proteinCoordStr_2=p.A373A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=76433272;refseq.start_2=76433272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr6 76482008 . A G 288.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=98.99;MQ0=0;OQ=11390.24;QD=40.68;RankSumP=1.00000;SB=-3857.96;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3296A>G;refseq.codingCoordStr_2=c.3317A>G;refseq.codonCoord_1=1099;refseq.codonCoord_2=1106;refseq.end_1=76482008;refseq.end_2=76482008;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3915;refseq.mrnaCoord_2=3936;refseq.name2_1=SENP6;refseq.name2_2=SENP6;refseq.name_1=NM_001100409;refseq.name_2=NM_015571;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1099C;refseq.proteinCoordStr_2=p.Y1106C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=188;refseq.spliceDist_2=188;refseq.start_1=76482008;refseq.start_2=76482008;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr6 76690105 . C T 159.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.75;MQ0=0;OQ=1256.44;QD=16.53;RankSumP=0.327121;SB=-557.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2282G>A;refseq.codonCoord=761;refseq.end=76690105;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2412;refseq.name=NM_001563;refseq.name2=IMPG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S761N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-35;refseq.start=76690105;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr6 76697523 . G A 192.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.92;MQ0=0;OQ=1580.26;QD=15.34;RankSumP=0.286902;SB=-318.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2110C>T;refseq.codonCoord=704;refseq.end=76697523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2240;refseq.name=NM_001563;refseq.name2=IMPG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R704W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=66;refseq.start=76697523;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr6 76717271 . G C 295.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.81;MQ0=0;OQ=3009.10;QD=19.93;RankSumP=0.367266;SB=-1360.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1552C>G;refseq.codonCoord=518;refseq.end=76717271;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1682;refseq.name=NM_001563;refseq.name2=IMPG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H518D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=261;refseq.start=76717271;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 76717309 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1514A>C;refseq.codonCoord=505;refseq.end=76717309;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_001563;refseq.name2=IMPG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D505A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=223;refseq.start=76717309;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr6 79714110 . G A 155.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=1.80;MQ=98.84;MQ0=0;OQ=2750.44;QD=14.03;RankSumP=0.372443;SB=-1135.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4155C>T;refseq.codonCoord=1385;refseq.end=79714110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4381;refseq.name=NM_017934;refseq.name2=PHIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1385V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-52;refseq.start=79714110;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr6 79736296 . A G 120.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.35;MQ0=0;OQ=2337.90;QD=14.61;RankSumP=0.419388;SB=-976.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3180T>C;refseq.codonCoord=1060;refseq.end=79736296;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3406;refseq.name=NM_017934;refseq.name2=PHIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1060D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-26;refseq.start=79736296;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr6 79749470 . G A 280.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=8.54;MQ=98.50;MQ0=0;OQ=4954.73;QD=18.42;RankSumP=0.211524;SB=-701.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2621C>T;refseq.codonCoord=874;refseq.end=79749470;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2847;refseq.name=NM_017934;refseq.name2=PHIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T874I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=84;refseq.start=79749470;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr6 79764719 . A C 296.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.78;MQ0=0;OQ=14086.51;QD=38.91;RankSumP=1.00000;SB=-4483.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1988T>G;refseq.codonCoord=663;refseq.end=79764719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2214;refseq.name=NM_017934;refseq.name2=PHIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V663G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-30;refseq.start=79764719;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr6 80253567 . C T 207.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=16436.62;QD=40.99;RankSumP=1.00000;SB=-6477.67;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1967G>A;refseq.codingCoordStr_2=c.1967G>A;refseq.codonCoord_1=656;refseq.codonCoord_2=656;refseq.end_1=80253567;refseq.end_2=80253567;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2424;refseq.mrnaCoord_2=2579;refseq.name2_1=LCA5;refseq.name2_2=LCA5;refseq.name_1=NM_001122769;refseq.name_2=NM_181714;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G656D;refseq.proteinCoordStr_2=p.G656D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=736;refseq.spliceDist_2=736;refseq.start_1=80253567;refseq.start_2=80253567;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 80285254 . T G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=803;Dels=0.00;HRun=0;HaplotypeScore=14.88;MQ=98.81;MQ0=0;OQ=32818.17;QD=40.87;RankSumP=1.00000;SB=-12243.58;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.77A>C;refseq.codingCoordStr_2=c.77A>C;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=80285254;refseq.end_2=80285254;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=534;refseq.mrnaCoord_2=689;refseq.name2_1=LCA5;refseq.name2_2=LCA5;refseq.name_1=NM_001122769;refseq.name_2=NM_181714;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D26A;refseq.proteinCoordStr_2=p.D26A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.start_1=80285254;refseq.start_2=80285254;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr6 80285260 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=887;Dels=0.00;HRun=0;HaplotypeScore=8.22;MQ=98.81;MQ0=0;OQ=37766.87;QD=42.58;RankSumP=1.00000;SB=-13663.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.71T>C;refseq.codingCoordStr_2=c.71T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=80285260;refseq.end_2=80285260;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=528;refseq.mrnaCoord_2=683;refseq.name2_1=LCA5;refseq.name2_2=LCA5;refseq.name_1=NM_001122769;refseq.name_2=NM_181714;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L24S;refseq.proteinCoordStr_2=p.L24S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=80285260;refseq.start_2=80285260;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr6 82518239 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=96.56;MQ0=0;OQ=680.82;QD=9.59;RankSumP=0.0766877;SB=-152.68;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.339T>C;refseq.codonCoord=113;refseq.end=82518239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_017633;refseq.name2=FAM46A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-214;refseq.start=82518239;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 82957530 . G A 151.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=233.71;QD=17.98;RankSumP=0.365385;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3554C>T;refseq.codonCoord=1185;refseq.end=82957530;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4081;refseq.name=NM_015525;refseq.name2=IBTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1185V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-22;refseq.start=82957530;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr6 82990028 . C T 0.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=4;HaplotypeScore=0.63;MQ=98.47;MQ0=0;OQ=2497.47;QD=17.11;RankSumP=0.00000;SB=-636.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.972G>A;refseq.codonCoord=324;refseq.end=82990028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1499;refseq.name=NM_015525;refseq.name2=IBTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K324K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=29;refseq.start=82990028;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 0/1 chr6 83132633 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=2;HaplotypeScore=2.85;MQ=98.75;MQ0=0;OQ=10048.86;QD=42.58;RankSumP=1.00000;SB=-4636.24;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1236G>A;refseq.codingCoordStr_2=c.1236G>A;refseq.codonCoord_1=412;refseq.codonCoord_2=412;refseq.end_1=83132633;refseq.end_2=83132633;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1661;refseq.mrnaCoord_2=2172;refseq.name2_1=TPBG;refseq.name2_2=TPBG;refseq.name_1=NM_001166392;refseq.name_2=NM_006670;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T412T;refseq.proteinCoordStr_2=p.T412T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-1218;refseq.spliceDist_2=-1218;refseq.start_1=83132633;refseq.start_2=83132633;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr6 83912075 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.5655A>C;refseq.codonCoord=1885;refseq.end=83912075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5915;refseq.name=NM_015018;refseq.name2=DOPEY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1885P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-22;refseq.start=83912075;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 83949406 . C A 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=20.23;MQ=97.83;MQ0=0;OQ=352.94;QD=1.43;RankSumP=0.00000;SB=248.82;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.468G>T;refseq.codonCoord=156;refseq.end=83949406;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_015599;refseq.name2=PGM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L156F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=11;refseq.start=83949406;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr6 84004180 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=9.05365e-07;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1001T>G;refseq.codonCoord=334;refseq.end=84004180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1107;refseq.name=NM_002395;refseq.name2=ME1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V334G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-26;refseq.start=84004180;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr6 84005980 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2254.11;QD=21.88;RankSumP=0.0442760;SB=-512.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.909A>G;refseq.codonCoord=303;refseq.end=84005980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_002395;refseq.name2=ME1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G303G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=84005980;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr6 84290550 . G A 183.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.53;MQ0=0;OQ=961.19;QD=16.57;RankSumP=0.384898;SB=-186.25;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.671G>A;refseq.codingCoordStr_2=c.671G>A;refseq.codonCoord_1=224;refseq.codonCoord_2=224;refseq.end_1=84290550;refseq.end_2=84290550;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1016;refseq.mrnaCoord_2=911;refseq.name2_1=PRSS35;refseq.name2_2=PRSS35;refseq.name_1=NM_001170423;refseq.name_2=NM_153362;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R224Q;refseq.proteinCoordStr_2=p.R224Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=691;refseq.spliceDist_2=691;refseq.start_1=84290550;refseq.start_2=84290550;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr6 85530477 . C T 20.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.49;MQ0=0;OQ=393.55;QD=24.60;RankSumP=1.00000;SB=-122.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.142G>A;refseq.codonCoord=48;refseq.end=85530477;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_001080508;refseq.name2=TBX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.G48R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=142;refseq.start=85530477;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr6 86255952 . A G 282.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.05;MQ0=0;OQ=3723.86;QD=36.87;RankSumP=1.00000;SB=-1119.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1126A>G;refseq.codonCoord=376;refseq.end=86255952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1682;refseq.name=NM_002526;refseq.name2=NT5E;refseq.positionType=CDS;refseq.proteinCoordStr=p.T376A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=22;refseq.start=86255952;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr6 86256996 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=250;Dels=0.00;HRun=0;HaplotypeScore=12.44;MQ=98.85;MQ0=0;OQ=5586.91;QD=22.35;RankSumP=0.239295;SB=-1152.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1262T>A;refseq.codonCoord=421;refseq.end=86256996;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_002526;refseq.name2=NT5E;refseq.positionType=CDS;refseq.proteinCoordStr=p.F421Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=52;refseq.start=86256996;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 88280883 . T C 331.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=98.55;MQ0=0;OQ=4925.21;QD=21.79;RankSumP=0.350513;SB=-2030.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1704A>G;refseq.codonCoord=568;refseq.end=88280883;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1764;refseq.name=NM_020320;refseq.name2=RARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K568K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=54;refseq.start=88280883;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 88281392 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr6;refseq.codingCoordStr=c.1650+2;refseq.end=88281392;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020320;refseq.name2=RARS2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=88281392;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 88444341 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.443T>G;refseq.codonCoord=148;refseq.end=88444341;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1026;refseq.name=NM_018064;refseq.name2=AKIRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V148G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=64;refseq.start=88444341;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr6 88830561 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.636A>C;refseq.codonCoord=212;refseq.end=88830561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_030960;refseq.name2=SPACA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L212L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=26;refseq.start=88830561;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr6 88910354 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=99.00;MQ0=0;OQ=529.68;QD=11.51;RankSumP=0.375135;SB=-10.00;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.codingCoordStr_1=c.1359G>A;refseq.codingCoordStr_2=c.1359G>A;refseq.codingCoordStr_3=c.1359G>A;refseq.codingCoordStr_4=c.1359G>A;refseq.codingCoordStr_5=c.1359G>A;refseq.codingCoordStr_6=c.1260G>A;refseq.codonCoord_1=453;refseq.codonCoord_2=453;refseq.codonCoord_3=453;refseq.codonCoord_4=453;refseq.codonCoord_5=453;refseq.codonCoord_6=420;refseq.end_1=88910354;refseq.end_2=88910354;refseq.end_3=88910354;refseq.end_4=88910354;refseq.end_5=88910354;refseq.end_6=88910354;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1811;refseq.mrnaCoord_2=1849;refseq.mrnaCoord_3=1724;refseq.mrnaCoord_4=4922;refseq.mrnaCoord_5=1668;refseq.mrnaCoord_6=1323;refseq.name2_1=CNR1;refseq.name2_2=CNR1;refseq.name2_3=CNR1;refseq.name2_4=CNR1;refseq.name2_5=CNR1;refseq.name2_6=CNR1;refseq.name_1=NM_001160226;refseq.name_2=NM_001160258;refseq.name_3=NM_001160259;refseq.name_4=NM_001160260;refseq.name_5=NM_016083;refseq.name_6=NM_033181;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T453T;refseq.proteinCoordStr_2=p.T453T;refseq.proteinCoordStr_3=p.T453T;refseq.proteinCoordStr_4=p.T453T;refseq.proteinCoordStr_5=p.T453T;refseq.proteinCoordStr_6=p.T420T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.spliceDist_1=1422;refseq.spliceDist_2=1422;refseq.spliceDist_3=1422;refseq.spliceDist_4=1422;refseq.spliceDist_5=1422;refseq.spliceDist_6=1198;refseq.start_1=88910354;refseq.start_2=88910354;refseq.start_3=88910354;refseq.start_4=88910354;refseq.start_5=88910354;refseq.start_6=88910354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;set=Intersection GT 0/1 chr6 89850613 . G C 139.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=3.82;MQ=99.00;MQ0=0;OQ=2454.54;QD=19.64;RankSumP=0.0477205;SB=-656.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.963G>C;refseq.codonCoord=321;refseq.end=89850613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1148;refseq.name=NM_006813;refseq.name2=PNRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T321T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=423;refseq.start=89850613;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr6 89945463 . C T 215.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=4.38;MQ=98.83;MQ0=0;OQ=4510.28;QD=18.11;RankSumP=0.114837;SB=-899.29;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1185G>A;refseq.codonCoord=395;refseq.end=89945463;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_002042;refseq.name2=GABRR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A395A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=39;refseq.start=89945463;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr6 89964592 . G A 397.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.84;MQ0=0;OQ=7286.48;QD=40.94;RankSumP=1.00000;SB=-3039.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.438C>T;refseq.codonCoord=146;refseq.end=89964592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_002042;refseq.name2=GABRR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D146D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=90;refseq.start=89964592;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 89983685 . T C 386.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.89;MQ0=0;OQ=7940.73;QD=37.63;RankSumP=1.00000;SB=-3183.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.76A>G;refseq.codonCoord=26;refseq.end=89983685;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_002042;refseq.name2=GABRR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M26V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-47;refseq.start=89983685;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr6 90096389 . G C 165.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=98.87;MQ0=0;OQ=13139.32;QD=49.03;RankSumP=1.00000;SB=-3866.81;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.685C>G;refseq.codonCoord=229;refseq.end=90096389;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_016021;refseq.name2=UBE2J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L229V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=90096389;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 90425101 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=719;Dels=0.00;HRun=0;HaplotypeScore=39.00;MQ=98.88;MQ0=0;OQ=13074.70;QD=18.18;RankSumP=0.0200695;SB=-5240.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.14970C>T;refseq.codonCoord=4990;refseq.end=90425101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=15086;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4990A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-52;refseq.start=90425101;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 90427923 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=468;Dels=0.00;HRun=1;HaplotypeScore=21.52;MQ=98.69;MQ0=0;OQ=9796.98;QD=20.93;RankSumP=0.493223;SB=-2422.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.14661C>T;refseq.codonCoord=4887;refseq.end=90427923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=14777;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4887L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-53;refseq.start=90427923;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr6 90429295 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=532;Dels=0.00;HRun=1;HaplotypeScore=18.42;MQ=98.84;MQ0=0;OQ=10887.63;QD=20.47;RankSumP=0.348914;SB=-1883.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.14349T>G;refseq.codonCoord=4783;refseq.end=90429295;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14465;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D4783E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-64;refseq.start=90429295;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr6 90447164 . C A 155.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.70;MQ0=0;OQ=2520.01;QD=12.60;RankSumP=0.0430205;SB=-1052.00;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.12130G>T;refseq.codonCoord=4044;refseq.end=90447164;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12246;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4044S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=28;refseq.start=90447164;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr6 90453853 . G C 107.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=3.88;MQ=98.96;MQ0=0;OQ=5486.74;QD=21.69;RankSumP=0.230079;SB=-1260.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.11381C>G;refseq.codonCoord=3794;refseq.end=90453853;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11497;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3794G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=26;refseq.start=90453853;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr6 90459203 . G A 306.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.01;HRun=0;HaplotypeScore=7.60;MQ=97.82;MQ0=0;OQ=2064.28;QD=19.29;RankSumP=0.196670;SB=-915.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.10267C>T;refseq.codonCoord=3423;refseq.end=90459203;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10383;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3423Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-321;refseq.start=90459203;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr6 90459561 . C G 274.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=97.67;MQ0=0;OQ=7676.88;QD=41.27;RankSumP=1.00000;SB=-2311.55;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.9909G>C;refseq.codonCoord=3303;refseq.end=90459561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10025;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3303L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=33;refseq.start=90459561;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr6 90465310 . A G 219.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=2532.58;QD=17.71;RankSumP=0.202560;SB=-534.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.9163T>C;refseq.codonCoord=3055;refseq.end=90465310;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9279;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3055L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=90465310;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr6 90474983 . C T 380.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1752.18;QD=41.72;RankSumP=1.00000;SB=-893.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.7851G>A;refseq.codonCoord=2617;refseq.end=90474983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7967;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2617T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-48;refseq.start=90474983;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr6 90504813 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=1;HaplotypeScore=15.89;MQ=98.95;MQ0=0;OQ=16869.72;QD=42.93;RankSumP=1.00000;SB=-5454.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4676G>A;refseq.codonCoord=1559;refseq.end=90504813;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4792;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1559N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-48;refseq.start=90504813;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 90511805 . A G 369.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.88;MQ0=0;OQ=13217.80;QD=40.55;RankSumP=1.00000;SB=-3535.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4086T>C;refseq.codonCoord=1362;refseq.end=90511805;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4202;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1362H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=47;refseq.start=90511805;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr6 90516175 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=875.83;QD=16.22;RankSumP=0.411030;SB=-95.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3423C>T;refseq.codonCoord=1141;refseq.end=90516175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3539;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1141A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=17;refseq.start=90516175;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 90556223 . G A 344.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=12.13;MQ=98.83;MQ0=0;OQ=6222.23;QD=18.74;RankSumP=0.466823;SB=-2051.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1227C>T;refseq.codonCoord=409;refseq.end=90556223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_014611;refseq.name2=MDN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D409D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=90556223;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr6 90699079 . G A 158.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.33;MQ0=0;OQ=864.08;QD=14.40;RankSumP=0.0752384;SB=-286.25;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2295C>T;refseq.codingCoordStr_2=c.2295C>T;refseq.codonCoord_1=765;refseq.codonCoord_2=765;refseq.end_1=90699079;refseq.end_2=90699079;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2998;refseq.mrnaCoord_2=3104;refseq.name2_1=BACH2;refseq.name2_2=BACH2;refseq.name_1=NM_001170794;refseq.name_2=NM_021813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N765N;refseq.proteinCoordStr_2=p.N765N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=252;refseq.spliceDist_2=252;refseq.start_1=90699079;refseq.start_2=90699079;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr6 90699214 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=231;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.81;MQ0=0;OQ=5573.91;QD=24.13;RankSumP=0.313410;SB=-2275.71;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2160C>T;refseq.codingCoordStr_2=c.2160C>T;refseq.codonCoord_1=720;refseq.codonCoord_2=720;refseq.end_1=90699214;refseq.end_2=90699214;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2863;refseq.mrnaCoord_2=2969;refseq.name2_1=BACH2;refseq.name2_2=BACH2;refseq.name_1=NM_001170794;refseq.name_2=NM_021813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P720P;refseq.proteinCoordStr_2=p.P720P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=117;refseq.spliceDist_2=117;refseq.start_1=90699214;refseq.start_2=90699214;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr6 90717040 . T C 211.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=773.58;QD=17.58;RankSumP=0.265746;SB=-381.44;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1506A>G;refseq.codingCoordStr_2=c.1506A>G;refseq.codonCoord_1=502;refseq.codonCoord_2=502;refseq.end_1=90717040;refseq.end_2=90717040;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2209;refseq.mrnaCoord_2=2315;refseq.name2_1=BACH2;refseq.name2_2=BACH2;refseq.name_1=NM_001170794;refseq.name_2=NM_021813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V502V;refseq.proteinCoordStr_2=p.V502V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-331;refseq.spliceDist_2=-331;refseq.start_1=90717040;refseq.start_2=90717040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr6 90718297 . T C 252.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=3.61;MQ=99.00;MQ0=0;OQ=2600.56;QD=16.56;RankSumP=0.230768;SB=-1255.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.249A>G;refseq.codingCoordStr_2=c.249A>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=90718297;refseq.end_2=90718297;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=952;refseq.mrnaCoord_2=1058;refseq.name2_1=BACH2;refseq.name2_2=BACH2;refseq.name_1=NM_001170794;refseq.name_2=NM_021813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T83T;refseq.proteinCoordStr_2=p.T83T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=90718297;refseq.start_2=90718297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr6 94024664 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1984G>T;refseq.codonCoord=662;refseq.end=94024664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2225;refseq.name=NM_004440;refseq.name2=EPHA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V662L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=60;refseq.start=94024664;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr6 94038845 . A G 341.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5035.33;QD=39.96;RankSumP=1.00000;SB=-337.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1341T>C;refseq.codonCoord=447;refseq.end=94038845;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1582;refseq.name=NM_004440;refseq.name2=EPHA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S447S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=17;refseq.start=94038845;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr6 96758461 . A G 424.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2816.79;QD=40.24;RankSumP=1.00000;SB=-1432.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.709A>G;refseq.codonCoord=237;refseq.end=96758461;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_006581;refseq.name2=FUT9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T237A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=717;refseq.start=96758461;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 97445799 . A G 374.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=96.41;MQ0=0;OQ=4463.01;QD=42.10;RankSumP=1.00000;SB=-1480.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.430T>C;refseq.codonCoord=144;refseq.end=97445799;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_014165;refseq.name2=NDUFAF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L144L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=190;refseq.start=97445799;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 97445809 . C T 121.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=97.02;MQ0=0;OQ=5076.62;QD=44.14;RankSumP=1.00000;SB=-1845.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.420G>A;refseq.codonCoord=140;refseq.end=97445809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_014165;refseq.name2=NDUFAF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q140Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=180;refseq.start=97445809;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr6 97668405 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.653A>C;refseq.codonCoord=218;refseq.end=97668405;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_052904;refseq.name2=KLHL32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N218T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=26;refseq.start=97668405;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 97668808 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1056A>G;refseq.codonCoord=352;refseq.end=97668808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_052904;refseq.name2=KLHL32;refseq.positionType=CDS;refseq.proteinCoordStr=p.G352G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-299;refseq.start=97668808;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 97719884 . T C 311.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=97.22;MQ0=0;OQ=5281.41;QD=16.98;RankSumP=0.0424982;SB=-1824.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3180A>G;refseq.codonCoord=1060;refseq.end=97719884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3446;refseq.name=NM_198468;refseq.name2=C6orf167;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1060P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-42;refseq.start=97719884;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 97719898 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=339;Dels=0.00;HRun=1;HaplotypeScore=80.57;MQ=97.10;MQ0=0;OQ=193.20;QD=0.57;RankSumP=0.00000;SB=450.46;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3166A>C;refseq.codonCoord=1056;refseq.end=97719898;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3432;refseq.name=NM_198468;refseq.name2=C6orf167;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1056P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-56;refseq.start=97719898;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr6 97733095 . A G 296.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.76;MQ0=0;OQ=3975.95;QD=20.39;RankSumP=0.218323;SB=-1313.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2624T>C;refseq.codonCoord=875;refseq.end=97733095;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2890;refseq.name=NM_198468;refseq.name2=C6orf167;refseq.positionType=CDS;refseq.proteinCoordStr=p.V875A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-56;refseq.start=97733095;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr6 97783839 . G A 447.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.36;MQ0=0;OQ=5462.92;QD=41.70;RankSumP=1.00000;SB=-2682.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1691C>T;refseq.codonCoord=564;refseq.end=97783839;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1957;refseq.name=NM_198468;refseq.name2=C6orf167;refseq.positionType=CDS;refseq.proteinCoordStr=p.T564M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=162;refseq.start=97783839;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr6 99390097 . T G 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=3.02;MQ=92.02;MQ0=0;OQ=566.55;QD=24.63;RankSumP=1.00000;SB=-84.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.627T>G;refseq.codonCoord=209;refseq.end=99390097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_005604;refseq.name2=POU3F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G209G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=797;refseq.start=99390097;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr6 99481121 . G A 242.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=5.25;MQ=98.69;MQ0=0;OQ=6637.83;QD=20.49;RankSumP=0.422254;SB=-2335.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=99481121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_012160;refseq.name2=FBXL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L155L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-48;refseq.start=99481121;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr6 99878261 . T C 411.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.89;MQ0=0;OQ=7297.01;QD=36.30;RankSumP=1.00000;SB=-1695.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=99878261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_032511;refseq.name2=C6orf168;refseq.positionType=CDS;refseq.proteinCoordStr=p.T201T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=99878261;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 99924322 . A G 213.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=10.11;MQ=98.73;MQ0=0;OQ=18110.04;QD=40.61;RankSumP=1.00000;SB=-8238.63;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.985T>C;refseq.codonCoord=329;refseq.end=99924322;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_017421;refseq.name2=COQ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y329H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=96;refseq.start=99924322;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr6 99926100 . T C 314.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=99.00;MQ0=0;OQ=6515.26;QD=42.31;RankSumP=1.00000;SB=-2813.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.814A>G;refseq.codonCoord=272;refseq.end=99926100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_017421;refseq.name2=COQ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S272G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-76;refseq.start=99926100;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr6 99932069 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.54;MQ0=0;OQ=3799.13;QD=24.83;RankSumP=0.0202558;SB=-905.05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.400A>G;refseq.codonCoord=134;refseq.end=99932069;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_017421;refseq.name2=COQ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K134E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=14;refseq.start=99932069;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr6 99990425 . T C 364.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=2478.24;QD=39.97;RankSumP=1.00000;SB=-515.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2333A>G;refseq.codonCoord=778;refseq.end=99990425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2866;refseq.name=NM_001080481;refseq.name2=USP45;refseq.positionType=CDS;refseq.proteinCoordStr=p.N778S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=19;refseq.start=99990425;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr6 100000807 . C G 99.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=11.58;MQ=98.67;MQ0=0;OQ=4792.65;QD=24.33;RankSumP=0.452588;SB=-1930.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1562G>C;refseq.codonCoord=521;refseq.end=100000807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2095;refseq.name=NM_001080481;refseq.name2=USP45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R521T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=254;refseq.start=100000807;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr6 101004213 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.432A>C;refseq.codonCoord=144;refseq.end=101004213;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_005068;refseq.name2=SIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q144H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-26;refseq.start=101004213;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr6 101070868 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=20.57;MQ=98.77;MQ0=0;OQ=10774.57;QD=25.53;RankSumP=0.328799;SB=-2882.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5984C>G;refseq.codonCoord=1995;refseq.end=101070868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6313;refseq.name=NM_006828;refseq.name2=ASCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1995C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=57;refseq.start=101070868;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr6 101201275 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=2;HaplotypeScore=1.13;MQ=99.00;MQ0=0;OQ=2950.48;QD=14.68;RankSumP=0.242387;SB=-1226.09;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3570T>C;refseq.codonCoord=1190;refseq.end=101201275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3899;refseq.name=NM_006828;refseq.name2=ASCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1190P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-64;refseq.start=101201275;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr6 101272816 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=1;HaplotypeScore=7.82;MQ=98.55;MQ0=0;OQ=7357.93;QD=22.50;RankSumP=0.390787;SB=-2461.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1935C>T;refseq.codonCoord=645;refseq.end=101272816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2264;refseq.name=NM_006828;refseq.name2=ASCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L645L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=33;refseq.start=101272816;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr6 101280134 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr6;refseq.codingCoordStr=c.1902+2;refseq.end=101280134;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_006828;refseq.name2=ASCC3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=101280134;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 101403110 . G A 133.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=2;HaplotypeScore=5.95;MQ=98.67;MQ0=0;OQ=3932.15;QD=20.81;RankSumP=0.317476;SB=-1452.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.436C>T;refseq.codonCoord=146;refseq.end=101403110;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_006828;refseq.name2=ASCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L146F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=195;refseq.start=101403110;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr6 102610010 . G A 126.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=6.81;MQ=98.89;MQ0=0;OQ=12678.63;QD=43.27;RankSumP=1.00000;SB=-5769.90;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2424G>A;refseq.codingCoordStr_2=c.2424G>A;refseq.codingCoordStr_3=c.2424G>A;refseq.codonCoord_1=808;refseq.codonCoord_2=808;refseq.codonCoord_3=808;refseq.end_1=102610010;refseq.end_2=102610010;refseq.end_3=102610010;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2717;refseq.mrnaCoord_2=2717;refseq.mrnaCoord_3=2717;refseq.name2_1=GRIK2;refseq.name2_2=GRIK2;refseq.name2_3=GRIK2;refseq.name_1=NM_001166247;refseq.name_2=NM_021956;refseq.name_3=NM_175768;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E808E;refseq.proteinCoordStr_2=p.E808E;refseq.proteinCoordStr_3=p.E808E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.start_1=102610010;refseq.start_2=102610010;refseq.start_3=102610010;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr6 107073878 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=168;Dels=0.00;HRun=2;HaplotypeScore=7.17;MQ=98.33;MQ0=0;OQ=2256.81;QD=13.43;RankSumP=0.230510;SB=-755.53;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.878A>C;refseq.codonCoord=293;refseq.end=107073878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_001624;refseq.name2=AIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q293P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=180;refseq.start=107073878;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr6 107094063 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=0;HaplotypeScore=15.36;MQ=98.46;MQ0=0;OQ=20137.90;QD=41.27;RankSumP=1.00000;SB=-9695.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3587A>C;refseq.codonCoord=1196;refseq.end=107094063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4074;refseq.name=NM_001624;refseq.name2=AIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1196A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-35;refseq.start=107094063;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 107099157 . A G 261.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=9.63;MQ=98.81;MQ0=0;OQ=13694.37;QD=41.88;RankSumP=1.00000;SB=-6792.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3834A>G;refseq.codonCoord=1278;refseq.end=107099157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4321;refseq.name=NM_001624;refseq.name2=AIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1278K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=19;refseq.start=107099157;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 107106515 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=98.83;MQ0=0;OQ=1490.37;QD=10.96;RankSumP=0.414792;SB=-583.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4184G>A;refseq.codonCoord=1395;refseq.end=107106515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4671;refseq.name=NM_001624;refseq.name2=AIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1395Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-32;refseq.start=107106515;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 107115461 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4722T>G;refseq.codonCoord=1574;refseq.end=107115461;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5209;refseq.name=NM_001624;refseq.name2=AIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1574W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-34;refseq.start=107115461;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr6 107210237 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=309;Dels=0.00;HRun=1;HaplotypeScore=4.85;MQ=96.86;MQ0=0;OQ=5994.03;QD=19.40;RankSumP=0.448169;SB=-2339.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1097G>A;refseq.codonCoord=366;refseq.end=107210237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1213;refseq.name=NM_018292;refseq.name2=QRSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R366Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=55;refseq.start=107210237;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr6 107217755 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=23;refseq.chr=chr6;refseq.codingCoordStr=c.1366+2;refseq.end=107217755;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018292;refseq.name2=QRSL1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=107217755;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 107220408 . G A 407.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=6399.17;QD=41.55;RankSumP=1.00000;SB=-3010.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1425G>A;refseq.codonCoord=475;refseq.end=107220408;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1541;refseq.name=NM_018292;refseq.name2=QRSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L475L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=59;refseq.start=107220408;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 107497906 . C T 254.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.91;MQ0=0;OQ=1838.87;QD=15.45;RankSumP=0.177677;SB=-798.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1182G>A;refseq.codonCoord=394;refseq.end=107497906;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_001080450;refseq.name2=BEND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T394T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=942;refseq.start=107497906;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 108062788 rs9486659 A G 2.54 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.61;MQ0=0;OQ=50.56;QD=25.28;SB=-51.69;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2047A>G;refseq.codonCoord=683;refseq.end=108062788;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2551;refseq.name=NM_018013;refseq.name2=SOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S683G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-579;refseq.start=108062788;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=gatk GT:AD:DP:GL:GQ 1/1:0,2:2:-8.46,-0.60,-0.00:6.02 chr6 108299616 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.232895;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2268A>G;refseq.codonCoord=756;refseq.end=108299616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2537;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.E756E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=129;refseq.start=108299616;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr6 108299727 . A G 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.344808;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2157T>C;refseq.codonCoord=719;refseq.end=108299727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2426;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.A719A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=18;refseq.start=108299727;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr6 108310961 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.372944;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1757A>G;refseq.codonCoord=586;refseq.end=108310961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2026;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q586R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-77;refseq.start=108310961;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap GT 1/0 chr6 108310962 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.314208;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1756C>T;refseq.codonCoord=586;refseq.end=108310962;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2025;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q586*;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-78;refseq.start=108310962;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap GT 1/0 chr6 108321387 . C T 138.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=17.67;MQ=98.25;MQ0=0;OQ=5034.60;QD=17.73;RankSumP=0.296422;SB=-1743.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1666G>A;refseq.codonCoord=556;refseq.end=108321387;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1935;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.V556I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=108321387;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr6 108340622 . G A 281.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=3881.21;QD=42.19;RankSumP=1.00000;SB=-1288.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.564C>T;refseq.codonCoord=188;refseq.end=108340622;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_007214;refseq.name2=SEC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.N188N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=108340622;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 109880500 . G C 38 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=4.89365e-07;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.583C>G;refseq.codingCoordStr_2=c.583C>G;refseq.codonCoord_1=195;refseq.codonCoord_2=195;refseq.end_1=109880500;refseq.end_2=109880500;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=895;refseq.mrnaCoord_2=895;refseq.name2_1=MICAL1;refseq.name2_2=MICAL1;refseq.name_1=NM_001159291;refseq.name_2=NM_022765;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R195G;refseq.proteinCoordStr_2=p.R195G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=109880500;refseq.start_2=109880500;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr6 110160531 . A T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=13;RankSumP=0.000354514;SecondBestBaseQ=18;refseq.chr=chr6;refseq.codingCoordStr=c.447-2;refseq.end=110160531;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_014845;refseq.name2=FIG4;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=110160531;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr6 110214210 . T C 318.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=6.86;MQ=98.93;MQ0=0;OQ=4655.68;QD=21.36;RankSumP=0.236311;SB=-1462.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1961T>C;refseq.codonCoord=654;refseq.end=110214210;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2176;refseq.name=NM_014845;refseq.name2=FIG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V654A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=13;refseq.start=110214210;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr6 110252996 . G A 350.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=9.89;MQ=98.85;MQ0=0;OQ=9129.16;QD=19.89;RankSumP=0.455999;SB=-2761.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2559G>A;refseq.codonCoord=853;refseq.end=110252996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2774;refseq.name=NM_014845;refseq.name2=FIG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S853S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=13;refseq.start=110252996;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr6 110407856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=8.72869e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.848T>G;refseq.codonCoord=283;refseq.end=110407856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_005284;refseq.name2=GPR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V283G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-761;refseq.start=110407856;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 110408049 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1041T>G;refseq.codonCoord=347;refseq.end=110408049;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_005284;refseq.name2=GPR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C347W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-568;refseq.start=110408049;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr6 110647352 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1183A>G;refseq.codonCoord=395;refseq.end=110647352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1207;refseq.name=NM_015891;refseq.name2=CDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.M395V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-24;refseq.start=110647352;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr6 110674102 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.74;MQ0=0;OQ=2971.31;QD=15.32;RankSumP=0.228147;SB=-1490.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.841C>T;refseq.codonCoord=281;refseq.end=110674102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_001123364;refseq.name2=C6orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.L281F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=55;refseq.start=110674102;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr6 110786106 . A G 12.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=99.48;QD=19.90;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.63T>C;refseq.codonCoord=21;refseq.end=110786106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=63;refseq.name=NM_001123364;refseq.name2=C6orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=63;refseq.start=110786106;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr6 110852955 . C T 107.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=1;HaplotypeScore=3.47;MQ=98.43;MQ0=0;OQ=4638.96;QD=19.74;RankSumP=0.256573;SB=-920.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1548G>A;refseq.codonCoord=516;refseq.end=110852955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_033125;refseq.name2=SLC22A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L516L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=27;refseq.start=110852955;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr6 110866701 . A G 250.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=16.43;MQ=98.57;MQ0=0;OQ=4441.32;QD=19.14;RankSumP=0.0876315;SB=-1629.88;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1226T>C;refseq.codonCoord=409;refseq.end=110866701;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_033125;refseq.name2=SLC22A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M409T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=43;refseq.start=110866701;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr6 111098356 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.286C>G;refseq.codonCoord=96;refseq.end=111098356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_015076;refseq.name2=CDK19;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-30;refseq.start=111098356;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr6 111693897 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1167.51;QD=15.78;RankSumP=0.436582;SB=-580.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.439A>G;refseq.codonCoord=147;refseq.end=111693897;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=861;refseq.name=NM_153369;refseq.name2=KIAA1919;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=126;refseq.start=111693897;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr6 111693959 . T C 407.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=3420.04;QD=37.58;RankSumP=1.00000;SB=-1474.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=111693959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_153369;refseq.name2=KIAA1919;refseq.positionType=CDS;refseq.proteinCoordStr=p.D167D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=188;refseq.start=111693959;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr6 111801766 . C T 223.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=98.83;MQ0=0;OQ=20797.01;QD=42.79;RankSumP=1.00000;SB=-7567.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4485G>A;refseq.codonCoord=1495;refseq.end=111801766;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4808;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1495S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1275;refseq.start=111801766;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr6 111801961 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=686;Dels=0.00;HRun=0;HaplotypeScore=16.44;MQ=98.70;MQ0=0;OQ=28478.95;QD=41.51;RankSumP=1.00000;SB=-12115.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.4290G>A;refseq.codonCoord=1430;refseq.end=111801961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4613;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1430V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1470;refseq.start=111801961;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr6 111802580 . G A 327.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=8148.82;QD=41.58;RankSumP=1.00000;SB=-4039.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3671C>T;refseq.codonCoord=1224;refseq.end=111802580;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3994;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1224I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=2074;refseq.start=111802580;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 111802950 . G A 195.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=98.75;MQ0=0;OQ=13657.53;QD=43.91;RankSumP=1.00000;SB=-5751.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3301C>T;refseq.codonCoord=1101;refseq.end=111802950;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3624;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1101L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1704;refseq.start=111802950;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr6 111803545 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=2;HaplotypeScore=1.99;MQ=98.85;MQ0=0;OQ=13440.44;QD=42.67;RankSumP=1.00000;SB=-6236.52;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2706A>G;refseq.codonCoord=902;refseq.end=111803545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3029;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G902G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=1109;refseq.start=111803545;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr6 111815707 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1050A>C;refseq.codonCoord=350;refseq.end=111815707;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1373;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T350T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-47;refseq.start=111815707;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 111910721 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.64A>C;refseq.codonCoord=22;refseq.end=111910721;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_002912;refseq.name2=REV3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T22P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-76;refseq.start=111910721;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 112008146 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=708.31;QD=16.47;RankSumP=0.409662;SB=-327.33;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.969C>A;refseq.codingCoordStr_3=c.969C>A;refseq.codonCoord_2=323;refseq.codonCoord_3=323;refseq.end_1=112008146;refseq.end_2=112008146;refseq.end_3=112008146;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1584;refseq.mrnaCoord_2=1473;refseq.mrnaCoord_3=1473;refseq.name2_1=TRAF3IP2;refseq.name2_2=TRAF3IP2;refseq.name2_3=TRAF3IP2;refseq.name_1=NR_028338;refseq.name_2=NM_001164281;refseq.name_3=NM_147686;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H323Q;refseq.proteinCoordStr_3=p.H323Q;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.spliceDist_3=-54;refseq.start_1=112008146;refseq.start_2=112008146;refseq.start_3=112008146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr6 112019537 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.446C>T;refseq.codingCoordStr_3=c.446C>T;refseq.codonCoord_2=149;refseq.codonCoord_3=149;refseq.end_1=112019537;refseq.end_2=112019537;refseq.end_3=112019537;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1061;refseq.mrnaCoord_2=950;refseq.mrnaCoord_3=950;refseq.name2_1=TRAF3IP2;refseq.name2_2=TRAF3IP2;refseq.name2_3=TRAF3IP2;refseq.name_1=NR_028338;refseq.name_2=NM_001164281;refseq.name_3=NM_147686;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S149F;refseq.proteinCoordStr_3=p.S149F;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-384;refseq.spliceDist_2=-384;refseq.spliceDist_3=-384;refseq.start_1=112019537;refseq.start_2=112019537;refseq.start_3=112019537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr6 112124329 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.886G>T;refseq.codingCoordStr_2=c.877G>T;refseq.codingCoordStr_3=c.721G>T;refseq.codonCoord_1=296;refseq.codonCoord_2=293;refseq.codonCoord_3=241;refseq.end_1=112124329;refseq.end_2=112124329;refseq.end_3=112124329;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1465;refseq.mrnaCoord_2=888;refseq.mrnaCoord_3=775;refseq.name2_1=FYN;refseq.name2_2=FYN;refseq.name2_3=FYN;refseq.name_1=NM_002037;refseq.name_2=NM_153047;refseq.name_3=NM_153048;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V296L;refseq.proteinCoordStr_2=p.V293L;refseq.proteinCoordStr_3=p.V241L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=112124329;refseq.start_2=112124329;refseq.start_3=112124329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=FilteredInAll GT 1/0 chr6 112487971 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.end_1=112488876;refseq.end_2=112488876;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=WISP3;refseq.name2_2=WISP3;refseq.name_1=NM_003880;refseq.name_2=NM_198239;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.start_1=112482312;refseq.start_2=112482312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr6 112489006 . G T 223.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.72;MQ0=0;OQ=3211.99;QD=15.59;RankSumP=0.226028;SB=-1529.57;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.168G>T;refseq.codingCoordStr_2=c.222G>T;refseq.codonCoord_1=56;refseq.codonCoord_2=74;refseq.end_1=112489006;refseq.end_2=112489006;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=278;refseq.mrnaCoord_2=358;refseq.name2_1=WISP3;refseq.name2_2=WISP3;refseq.name_1=NM_003880;refseq.name_2=NM_198239;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q56H;refseq.proteinCoordStr_2=p.Q74H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=120;refseq.spliceDist_2=120;refseq.start_1=112489006;refseq.start_2=112489006;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr6 112542605 . A T 176.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=4.47;MQ=98.93;MQ0=0;OQ=5907.87;QD=16.98;RankSumP=0.454033;SB=-2406.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.5160T>A;refseq.codingCoordStr_2=c.5139T>A;refseq.codingCoordStr_3=c.5139T>A;refseq.codonCoord_1=1720;refseq.codonCoord_2=1713;refseq.codonCoord_3=1713;refseq.end_1=112542605;refseq.end_2=112542605;refseq.end_3=112542605;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5469;refseq.mrnaCoord_2=5465;refseq.mrnaCoord_3=5448;refseq.name2_1=LAMA4;refseq.name2_2=LAMA4;refseq.name2_3=LAMA4;refseq.name_1=NM_001105206;refseq.name_2=NM_001105207;refseq.name_3=NM_002290;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1720V;refseq.proteinCoordStr_2=p.V1713V;refseq.proteinCoordStr_3=p.V1713V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=112542605;refseq.start_2=112542605;refseq.start_3=112542605;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr6 112545765 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.4851T>G;refseq.codingCoordStr_2=c.4830T>G;refseq.codingCoordStr_3=c.4830T>G;refseq.codonCoord_1=1617;refseq.codonCoord_2=1610;refseq.codonCoord_3=1610;refseq.end_1=112545765;refseq.end_2=112545765;refseq.end_3=112545765;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5160;refseq.mrnaCoord_2=5156;refseq.mrnaCoord_3=5139;refseq.name2_1=LAMA4;refseq.name2_2=LAMA4;refseq.name2_3=LAMA4;refseq.name_1=NM_001105206;refseq.name_2=NM_001105207;refseq.name_3=NM_002290;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C1617W;refseq.proteinCoordStr_2=p.C1610W;refseq.proteinCoordStr_3=p.C1610W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=112545765;refseq.start_2=112545765;refseq.start_3=112545765;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 0/1 chr6 112600565 . A G 158.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=401;Dels=0.00;HRun=1;HaplotypeScore=7.67;MQ=98.65;MQ0=0;OQ=7117.21;QD=17.75;RankSumP=0.146384;SB=-2631.76;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1492T>C;refseq.codingCoordStr_2=c.1471T>C;refseq.codingCoordStr_3=c.1471T>C;refseq.codonCoord_1=498;refseq.codonCoord_2=491;refseq.codonCoord_3=491;refseq.end_1=112600565;refseq.end_2=112600565;refseq.end_3=112600565;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1801;refseq.mrnaCoord_2=1797;refseq.mrnaCoord_3=1780;refseq.name2_1=LAMA4;refseq.name2_2=LAMA4;refseq.name2_3=LAMA4;refseq.name_1=NM_001105206;refseq.name_2=NM_001105207;refseq.name_3=NM_002290;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y498H;refseq.proteinCoordStr_2=p.Y491H;refseq.proteinCoordStr_3=p.Y491H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=112600565;refseq.start_2=112600565;refseq.start_3=112600565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr6 112615462 . T G 197.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.88;MQ0=0;OQ=3832.17;QD=39.10;RankSumP=1.00000;SB=-908.10;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.849A>C;refseq.codingCoordStr_2=c.828A>C;refseq.codingCoordStr_3=c.828A>C;refseq.codonCoord_1=283;refseq.codonCoord_2=276;refseq.codonCoord_3=276;refseq.end_1=112615462;refseq.end_2=112615462;refseq.end_3=112615462;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1158;refseq.mrnaCoord_2=1154;refseq.mrnaCoord_3=1137;refseq.name2_1=LAMA4;refseq.name2_2=LAMA4;refseq.name2_3=LAMA4;refseq.name_1=NM_001105206;refseq.name_2=NM_001105207;refseq.name_3=NM_002290;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A283A;refseq.proteinCoordStr_2=p.A276A;refseq.proteinCoordStr_3=p.A276A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=112615462;refseq.start_2=112615462;refseq.start_3=112615462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr6 112615463 . G T 133.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.88;MQ0=0;OQ=3562.82;QD=35.63;RankSumP=1.00000;SB=-833.80;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.848C>A;refseq.codingCoordStr_2=c.827C>A;refseq.codingCoordStr_3=c.827C>A;refseq.codonCoord_1=283;refseq.codonCoord_2=276;refseq.codonCoord_3=276;refseq.end_1=112615463;refseq.end_2=112615463;refseq.end_3=112615463;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1157;refseq.mrnaCoord_2=1153;refseq.mrnaCoord_3=1136;refseq.name2_1=LAMA4;refseq.name2_2=LAMA4;refseq.name2_3=LAMA4;refseq.name_1=NM_001105206;refseq.name_2=NM_001105207;refseq.name_3=NM_002290;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A283E;refseq.proteinCoordStr_2=p.A276E;refseq.proteinCoordStr_3=p.A276E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=112615463;refseq.start_2=112615463;refseq.start_3=112615463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr6 114287587 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.666667;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.138G>A;refseq.codonCoord=46;refseq.end=114287587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_002356;refseq.name2=MARCKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S46S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=36;refseq.start=114287587;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr6 114383966 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.401T>G;refseq.codonCoord_2=134;refseq.end_1=114383966;refseq.end_2=114383966;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=716;refseq.mrnaCoord_2=688;refseq.name2_1=HDAC2;refseq.name2_2=HDAC2;refseq.name_1=NR_033441;refseq.name_2=NM_001527;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V134G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=114383966;refseq.start_2=114383966;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr6 114485663 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=24334.67;QD=44.41;RankSumP=1.00000;SB=-9558.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.492G>A;refseq.codonCoord=164;refseq.end=114485663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_153612;refseq.name2=HS3ST5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E164E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=385;refseq.start=114485663;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr6 116431835 . C T 387.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=5939.81;QD=44.00;RankSumP=1.00000;SB=-2838.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.364G>A;refseq.codonCoord=122;refseq.end=116431835;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_002031;refseq.name2=FRK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G122R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=20;refseq.start=116431835;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr6 116549348 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.111463;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.624G>T;refseq.codonCoord_2=208;refseq.end_1=116648899;refseq.end_2=116549348;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=720;refseq.name2_1=NT5DC1;refseq.name2_2=COL10A1;refseq.name_1=NM_152729;refseq.name_2=NM_000493;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q208H;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=470;refseq.start_1=116545812;refseq.start_2=116549348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=FilteredInAll GT 1/0 chr6 116707467 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=4.73;MQ=97.17;MQ0=0;OQ=570.55;QD=11.64;RankSumP=0.293359;SB=-254.36;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.220G>C;refseq.codonCoord=74;refseq.end=116707467;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_003309;refseq.name2=TSPYL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A74P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=507;refseq.start=116707467;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr6 116707503 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=96.98;MQ0=0;OQ=336.77;QD=9.35;RankSumP=0.747088;SB=-139.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.184C>T;refseq.codonCoord=62;refseq.end=116707503;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_003309;refseq.name2=TSPYL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P62S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=471;refseq.start=116707503;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr6 116827180 . C T 266.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=8.92;MQ=97.57;MQ0=0;OQ=2661.21;QD=15.65;RankSumP=0.174809;SB=-954.35;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.74C>T;refseq.codingCoordStr_2=c.74C>T;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=116827180;refseq.end_2=116827180;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=268;refseq.mrnaCoord_2=302;refseq.name2_1=DSE;refseq.name2_2=DSE;refseq.name_1=NM_001080976;refseq.name_2=NM_013352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T25I;refseq.proteinCoordStr_2=p.T25I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=127;refseq.spliceDist_2=127;refseq.start_1=116827180;refseq.start_2=116827180;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr6 116864196 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1872C>A;refseq.codingCoordStr_2=c.1872C>A;refseq.codonCoord_1=624;refseq.codonCoord_2=624;refseq.end_1=116864196;refseq.end_2=116864196;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2066;refseq.mrnaCoord_2=2100;refseq.name2_1=DSE;refseq.name2_2=DSE;refseq.name_1=NM_001080976;refseq.name_2=NM_013352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y624*;refseq.proteinCoordStr_2=p.Y624*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=754;refseq.spliceDist_2=754;refseq.start_1=116864196;refseq.start_2=116864196;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr6 116864250 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=491;Dels=0.00;HRun=0;HaplotypeScore=23.69;MQ=97.32;MQ0=0;OQ=16191.26;QD=32.98;RankSumP=1.00000;SB=-7543.29;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1926T>C;refseq.codingCoordStr_2=c.1926T>C;refseq.codonCoord_1=642;refseq.codonCoord_2=642;refseq.end_1=116864250;refseq.end_2=116864250;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2120;refseq.mrnaCoord_2=2154;refseq.name2_1=DSE;refseq.name2_2=DSE;refseq.name_1=NM_001080976;refseq.name_2=NM_013352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N642N;refseq.proteinCoordStr_2=p.N642N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=808;refseq.spliceDist_2=808;refseq.start_1=116864250;refseq.start_2=116864250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr6 117057427 . G A 247.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2088.19;QD=16.84;RankSumP=0.323316;SB=-981.94;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1667G>A;refseq.codonCoord_2=556;refseq.end_1=117058280;refseq.end_2=117057427;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1812;refseq.name2_1=RSPH4A;refseq.name2_2=RSPH4A;refseq.name_1=NM_001161664;refseq.name_2=NM_001010892;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R556H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=117056236;refseq.start_2=117057427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr6 117057526 . T C 249.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=99.00;MQ0=0;OQ=3132.31;QD=15.98;RankSumP=0.206953;SB=-1392.72;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.1766T>C;refseq.codonCoord_2=589;refseq.end_1=117058280;refseq.end_2=117057526;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1911;refseq.name2_1=RSPH4A;refseq.name2_2=RSPH4A;refseq.name_1=NM_001161664;refseq.name_2=NM_001010892;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L589P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=-33;refseq.start_1=117056236;refseq.start_2=117057526;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr6 117079875 . T C 361.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.90;MQ0=0;OQ=8744.51;QD=19.96;RankSumP=0.340814;SB=-2324.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1135A>G;refseq.codonCoord=379;refseq.end=117079875;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1395;refseq.name=NM_145062;refseq.name2=ZUFSP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N379D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-16;refseq.start=117079875;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr6 117193071 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=2.71;MQ=98.35;MQ0=0;OQ=764.32;QD=10.62;RankSumP=0.206784;SB=-217.47;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.213G>T;refseq.codonCoord=71;refseq.end=117193071;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_001085480;refseq.name2=FAM162B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q71H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=41;refseq.start=117193071;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 117220346 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=3.72;MQ=98.62;MQ0=0;OQ=2209.60;QD=11.57;RankSumP=0.329854;SB=-1108.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2433A>G;refseq.codonCoord=811;refseq.end=117220346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2455;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P811P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-406;refseq.start=117220346;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 117220718 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=2;HaplotypeScore=2.49;MQ=98.86;MQ0=0;OQ=2424.44;QD=15.15;RankSumP=0.303804;SB=-1199.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2061C>T;refseq.codonCoord=687;refseq.end=117220718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2083;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A687A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=389;refseq.start=117220718;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 117220916 . T A 327.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=3.72;MQ=98.86;MQ0=0;OQ=6109.44;QD=19.71;RankSumP=0.0927928;SB=-2531.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1863A>T;refseq.codonCoord=621;refseq.end=117220916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1885;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T621T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=191;refseq.start=117220916;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr6 117221096 . G A 113.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=1518.00;QD=15.18;RankSumP=0.219459;SB=-672.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1683C>T;refseq.codonCoord=561;refseq.end=117221096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1705;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H561H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=11;refseq.start=117221096;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr6 117228587 . G A 183.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=98.94;MQ0=0;OQ=13109.40;QD=42.43;RankSumP=1.00000;SB=-3694.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1401C>T;refseq.codonCoord=467;refseq.end=117228587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1423;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H467H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=66;refseq.start=117228587;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr6 117237397 . G A 311.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=12.77;MQ=98.79;MQ0=0;OQ=5793.07;QD=20.69;RankSumP=0.149602;SB=-1878.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.271C>T;refseq.codonCoord=91;refseq.end=117237397;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_148963;refseq.name2=GPRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P91S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=77;refseq.start=117237397;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr6 117349953 . T C 135.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=11.33;MQ=98.59;MQ0=0;OQ=4199.81;QD=16.03;RankSumP=0.386105;SB=-1609.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1383T>C;refseq.codonCoord=461;refseq.end=117349953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_173560;refseq.name2=RFX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T461T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-55;refseq.start=117349953;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr6 117351067 . T C 363.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.69;MQ0=0;OQ=6358.29;QD=19.50;RankSumP=0.217222;SB=-2471.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1542T>C;refseq.codonCoord=514;refseq.end=117351067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_173560;refseq.name2=RFX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N514N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-14;refseq.start=117351067;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr6 117353412 . C T 208.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=99.00;MQ0=0;OQ=2061.23;QD=20.82;RankSumP=0.254229;SB=-493.02;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1782C>T;refseq.codonCoord=594;refseq.end=117353412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1845;refseq.name=NM_173560;refseq.name2=RFX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H594H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-104;refseq.start=117353412;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 117354911 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=1;HaplotypeScore=13.89;MQ=98.76;MQ0=0;OQ=9862.92;QD=17.97;RankSumP=0.197545;SB=-2913.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1914T>C;refseq.codonCoord=638;refseq.end=117354911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1977;refseq.name=NM_173560;refseq.name2=RFX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G638G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=29;refseq.start=117354911;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr6 117813572 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2271T>G;refseq.codonCoord=757;refseq.end=117813572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2470;refseq.name=NM_002944;refseq.name2=ROS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G757G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-34;refseq.start=117813572;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 117813699 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=2.10233e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2144A>C;refseq.codonCoord=715;refseq.end=117813699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2343;refseq.name=NM_002944;refseq.name2=ROS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N715T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=117813699;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 117815664 . C T 213.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=98.71;MQ0=0;OQ=5494.63;QD=17.01;RankSumP=0.000197411;SB=-1972.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1986G>A;refseq.codonCoord=662;refseq.end=117815664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2185;refseq.name=NM_002944;refseq.name2=ROS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E662E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-29;refseq.start=117815664;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 0/1 chr6 117832141 . T G 269.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=97.91;MQ0=0;OQ=6061.57;QD=20.21;RankSumP=0.141638;SB=-1966.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.433A>C;refseq.codonCoord=145;refseq.end=117832141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_002944;refseq.name2=ROS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T145P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=117832141;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr6 117832271 . T A 217.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=8.66;MQ=98.68;MQ0=0;OQ=8880.46;QD=37.16;RankSumP=1.00000;SB=-4257.95;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.303A>T;refseq.codonCoord=101;refseq.end=117832271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=502;refseq.name=NM_002944;refseq.name2=ROS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L101L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=14;refseq.start=117832271;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr6 117966659 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.944A>G;refseq.codonCoord=315;refseq.end=117966659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_173674;refseq.name2=DCBLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E315G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-33;refseq.start=117966659;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 117973455 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.chr=chr6;refseq.codingCoordStr=c.1615+2;refseq.end=117973455;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_173674;refseq.name2=DCBLD1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=117973455;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 118122025 . C G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=166;Dels=0.00;HRun=1;HaplotypeScore=9.00;MQ=70.17;MQ0=22;OQ=114.77;QD=0.69;SB=32.14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.680C>G;refseq.codonCoord=227;refseq.end=118122025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_138459;refseq.name2=NUS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A227G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-12;refseq.start=118122025;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:131,35:144:-58.12,-43.36,-656.47:99 chr6 118993654 . G T 330.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.66;MQ0=0;OQ=9467.28;QD=38.33;RankSumP=1.00000;SB=-4368.70;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.751C>A;refseq.codingCoordStr_2=c.751C>A;refseq.codonCoord_1=251;refseq.codonCoord_2=251;refseq.end_1=118993654;refseq.end_2=118993654;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1339;refseq.mrnaCoord_2=1339;refseq.name2_1=C6orf204;refseq.name2_2=C6orf204;refseq.name_1=NM_001042475;refseq.name_2=NM_206921;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P251T;refseq.proteinCoordStr_2=p.P251T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-270;refseq.spliceDist_2=-270;refseq.start_1=118993654;refseq.start_2=118993654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr6 118993996 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=1;HaplotypeScore=21.95;MQ=98.81;MQ0=0;OQ=6652.14;QD=18.69;RankSumP=0.119471;SB=-2190.80;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.409A>G;refseq.codingCoordStr_2=c.409A>G;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=118993996;refseq.end_2=118993996;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=997;refseq.mrnaCoord_2=997;refseq.name2_1=C6orf204;refseq.name2_2=C6orf204;refseq.name_1=NM_001042475;refseq.name_2=NM_206921;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S137G;refseq.proteinCoordStr_2=p.S137G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.start_1=118993996;refseq.start_2=118993996;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr6 119286723 . C T 196.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=99.00;MQ0=0;OQ=2886.60;QD=13.68;RankSumP=0.446387;SB=-1194.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.573G>A;refseq.codonCoord=191;refseq.end=119286723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_153255;refseq.name2=MCM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S191S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-49;refseq.start=119286723;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr6 119324663 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=9.52972e-08;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2796A>C;refseq.codingCoordStr_2=c.3303A>C;refseq.codonCoord_1=932;refseq.codonCoord_2=1101;refseq.end_1=119324663;refseq.end_2=119324663;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3113;refseq.mrnaCoord_2=3651;refseq.name2_1=FAM184A;refseq.name2_2=FAM184A;refseq.name_1=NM_001100411;refseq.name_2=NM_024581;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P932P;refseq.proteinCoordStr_2=p.P1101P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=119324663;refseq.start_2=119324663;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr6 119552640 . C A 300.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.89;MQ0=0;OQ=2780.26;QD=18.05;RankSumP=0.444793;SB=-936.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1434G>T;refseq.codonCoord=478;refseq.end=119552640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1876;refseq.name=NM_005907;refseq.name2=MAN1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A478A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=108;refseq.start=119552640;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 119711576 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=7.38;MQ=98.72;MQ0=0;OQ=1626.64;QD=13.44;RankSumP=0.352883;SB=-415.88;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.354G>A;refseq.codonCoord=118;refseq.end=119711576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_005907;refseq.name2=MAN1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E118E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-250;refseq.start=119711576;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 121619069 . T C 432.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=4102.67;QD=41.44;RankSumP=1.00000;SB=-1874.69;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1795A>G;refseq.codonCoord=599;refseq.end=121619069;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1863;refseq.name=NM_152730;refseq.name2=C6orf170;refseq.positionType=CDS;refseq.proteinCoordStr=p.I599V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=62;refseq.start=121619069;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr6 121662307 . G T 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=30;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1177.47;QD=39.25;RankSumP=1.00000;SB=-455.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1124C>A;refseq.codonCoord=375;refseq.end=121662307;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_152730;refseq.name2=C6orf170;refseq.positionType=CDS;refseq.proteinCoordStr=p.T375K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-17;refseq.start=121662307;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr6 121810025 . A G 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.397316;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.333A>G;refseq.codonCoord=111;refseq.end=121810025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_000165;refseq.name2=GJA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E111E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=349;refseq.start=121810025;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr6 121810064 . C G 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.371434;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.372C>G;refseq.codonCoord=124;refseq.end=121810064;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_000165;refseq.name2=GJA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D124E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=388;refseq.start=121810064;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr6 121810398 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.342989;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.706G>A;refseq.codonCoord=236;refseq.end=121810398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_000165;refseq.name2=GJA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V236I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=722;refseq.start=121810398;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr6 122816726 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.477T>G;refseq.codonCoord=159;refseq.end=122816726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_020755;refseq.name2=SERINC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=26;refseq.start=122816726;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 123360970 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.349A>G;refseq.codonCoord=117;refseq.end=123360970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_001010852;refseq.name2=CLVS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K117E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-41;refseq.start=123360970;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr6 124167066 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.22T>G;refseq.codonCoord=8;refseq.end=124167066;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_001040214;refseq.name2=NKAIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C8G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-33;refseq.start=124167066;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr6 126252088 . T G 411.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=8117.07;QD=40.18;RankSumP=1.00000;SB=-3466.21;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1162T>G;refseq.codingCoordStr_2=c.1195T>G;refseq.codonCoord_1=388;refseq.codonCoord_2=399;refseq.end_1=126252088;refseq.end_2=126252088;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1439;refseq.mrnaCoord_2=1472;refseq.name2_1=NCOA7;refseq.name2_2=NCOA7;refseq.name_1=NM_001122842;refseq.name_2=NM_181782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S388A;refseq.proteinCoordStr_2=p.S399A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=278;refseq.spliceDist_2=311;refseq.start_1=126252088;refseq.start_2=126252088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr6 126252793 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1867T>G;refseq.codingCoordStr_2=c.1900T>G;refseq.codonCoord_1=623;refseq.codonCoord_2=634;refseq.end_1=126252793;refseq.end_2=126252793;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2144;refseq.mrnaCoord_2=2177;refseq.name2_1=NCOA7;refseq.name2_2=NCOA7;refseq.name_1=NM_001122842;refseq.name_2=NM_181782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L623V;refseq.proteinCoordStr_2=p.L634V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=126252793;refseq.start_2=126252793;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=FilteredInAll GT 1/0 chr6 126319923 . G C 12.86 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=6.43;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.107G>C;refseq.codonCoord=36;refseq.end=126319923;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_138571;refseq.name2=HINT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G36A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-95;refseq.start=126319923;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/1 chr6 126349454 . G C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500086;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.65G>C;refseq.codonCoord=22;refseq.end=126349454;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_001031712;refseq.name2=TRMT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R22P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=126349454;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 127518209 . G A 451.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.86;MQ0=0;OQ=6244.33;QD=41.63;RankSumP=1.00000;SB=-2549.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.567G>A;refseq.codonCoord=189;refseq.end=127518209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_032784;refseq.name2=RSPO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L189L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-68;refseq.start=127518209;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 127810307 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*1171C>A;refseq.codingCoordStr_2=c.850C>A;refseq.codonCoord_2=284;refseq.end_1=127810307;refseq.end_2=127810307;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4880;refseq.mrnaCoord_2=1186;refseq.name2_1=C6orf174;refseq.name2_2=KIAA0408;refseq.name_1=NM_001012279;refseq.name_2=NM_014702;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q284K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=272;refseq.spliceDist_2=272;refseq.start_1=127810307;refseq.start_2=127810307;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr6 127810455 . G A 284.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=98.52;MQ0=0;OQ=2313.29;QD=15.42;RankSumP=0.109644;SB=-1166.90;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*1023C>T;refseq.codingCoordStr_2=c.702C>T;refseq.codonCoord_2=234;refseq.end_1=127810455;refseq.end_2=127810455;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4732;refseq.mrnaCoord_2=1038;refseq.name2_1=C6orf174;refseq.name2_2=KIAA0408;refseq.name_1=NM_001012279;refseq.name_2=NM_014702;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N234N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=124;refseq.spliceDist_2=124;refseq.start_1=127810455;refseq.start_2=127810455;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr6 127813145 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=98.76;MQ0=0;OQ=1158.63;QD=9.66;RankSumP=0.469332;SB=-376.68;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*502A>C;refseq.codingCoordStr_2=c.181A>C;refseq.codonCoord_2=61;refseq.end_1=127813145;refseq.end_2=127813145;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4211;refseq.mrnaCoord_2=517;refseq.name2_1=C6orf174;refseq.name2_2=KIAA0408;refseq.name_1=NM_001012279;refseq.name_2=NM_014702;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S61R;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=127813145;refseq.start_2=127813145;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr6 127838279 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2585G>C;refseq.codonCoord=862;refseq.end=127838279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3450;refseq.name=NM_001012279;refseq.name2=C6orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.G862A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-149;refseq.start=127838279;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr6 128082532 . T C 318.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=99.00;MQ0=0;OQ=1125.45;QD=36.30;RankSumP=1.00000;SB=-128.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1888A>G;refseq.codingCoordStr_2=c.2005A>G;refseq.codingCoordStr_3=c.1783A>G;refseq.codonCoord_1=630;refseq.codonCoord_2=669;refseq.codonCoord_3=595;refseq.end_1=128082532;refseq.end_2=128082532;refseq.end_3=128082532;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2037;refseq.mrnaCoord_2=2154;refseq.mrnaCoord_3=2001;refseq.name2_1=THEMIS;refseq.name2_2=THEMIS;refseq.name2_3=THEMIS;refseq.name_1=NM_001010923;refseq.name_2=NM_001164685;refseq.name_3=NM_001164687;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I630V;refseq.proteinCoordStr_2=p.I669V;refseq.proteinCoordStr_3=p.I595V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=128082532;refseq.start_2=128082532;refseq.start_3=128082532;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr6 128430492 . G T 193.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=98.94;MQ0=0;OQ=6270.59;QD=16.50;RankSumP=2.77394e-08;SB=-2154.18;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2022C>A;refseq.codingCoordStr_2=c.2022C>A;refseq.codonCoord_1=674;refseq.codonCoord_2=674;refseq.end_1=128430492;refseq.end_2=128430492;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2389;refseq.mrnaCoord_2=2338;refseq.name2_1=PTPRK;refseq.name2_2=PTPRK;refseq.name_1=NM_001135648;refseq.name_2=NM_002844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L674L;refseq.proteinCoordStr_2=p.L674L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-136;refseq.spliceDist_2=-136;refseq.start_1=128430492;refseq.start_2=128430492;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=filterInsoap-gatk GT 0/1 chr6 128445438 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=2;HaplotypeScore=2.73;MQ=98.19;MQ0=0;OQ=2975.17;QD=14.30;RankSumP=0.429840;SB=-1099.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1614T>C;refseq.codingCoordStr_2=c.1614T>C;refseq.codonCoord_1=538;refseq.codonCoord_2=538;refseq.end_1=128445438;refseq.end_2=128445438;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1981;refseq.mrnaCoord_2=1930;refseq.name2_1=PTPRK;refseq.name2_2=PTPRK;refseq.name_1=NM_001135648;refseq.name_2=NM_002844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V538V;refseq.proteinCoordStr_2=p.V538V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=128445438;refseq.start_2=128445438;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr6 128547497 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=460;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=98.87;MQ0=0;OQ=7525.33;QD=16.36;RankSumP=0.227108;SB=-2870.50;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.935T>G;refseq.codingCoordStr_2=c.935T>G;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=128547497;refseq.end_2=128547497;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1302;refseq.mrnaCoord_2=1251;refseq.name2_1=PTPRK;refseq.name2_2=PTPRK;refseq.name_1=NM_001135648;refseq.name_2=NM_002844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L312R;refseq.proteinCoordStr_2=p.L312R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=128547497;refseq.start_2=128547497;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 0/1 chr6 129422719 . C A 284.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.60;MQ0=0;OQ=4435.80;QD=17.40;RankSumP=0.492878;SB=-756.71;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.381C>A;refseq.codingCoordStr_2=c.381C>A;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=129422719;refseq.end_2=129422719;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=486;refseq.mrnaCoord_2=486;refseq.name2_1=LAMA2;refseq.name2_2=LAMA2;refseq.name_1=NM_000426;refseq.name_2=NM_001079823;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T127T;refseq.proteinCoordStr_2=p.T127T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=129422719;refseq.start_2=129422719;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr6 129555539 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1630T>G;refseq.codingCoordStr_2=c.1630T>G;refseq.codonCoord_1=544;refseq.codonCoord_2=544;refseq.end_1=129555539;refseq.end_2=129555539;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1735;refseq.mrnaCoord_2=1735;refseq.name2_1=LAMA2;refseq.name2_2=LAMA2;refseq.name_1=NM_000426;refseq.name_2=NM_001079823;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y544D;refseq.proteinCoordStr_2=p.Y544D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=129555539;refseq.start_2=129555539;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 1/0 chr6 129849407 . G A 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=2;HaplotypeScore=10.69;MQ=98.75;MQ0=0;OQ=14548.66;QD=42.66;RankSumP=1.00000;SB=-7247.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.7845G>A;refseq.codingCoordStr_2=c.7833G>A;refseq.codonCoord_1=2615;refseq.codonCoord_2=2611;refseq.end_1=129849407;refseq.end_2=129849407;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7950;refseq.mrnaCoord_2=7938;refseq.name2_1=LAMA2;refseq.name2_2=LAMA2;refseq.name_1=NM_000426;refseq.name_2=NM_001079823;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2615P;refseq.proteinCoordStr_2=p.P2611P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=129849407;refseq.start_2=129849407;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr6 130072908 . T C 206.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=5.17;MQ=98.88;MQ0=0;OQ=10136.72;QD=35.57;RankSumP=1.00000;SB=-4564.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.67A>G;refseq.codonCoord=23;refseq.end=130072908;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_033515;refseq.name2=ARHGAP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T23A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-47;refseq.start=130072908;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr6 130194172 . T C 307.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.72;MQ0=0;OQ=10115.10;QD=39.36;RankSumP=1.00000;SB=-3898.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.372A>G;refseq.codonCoord=124;refseq.end=130194172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_001010876;refseq.name2=C6orf191;refseq.positionType=CDS;refseq.proteinCoordStr=p.S124S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=53;refseq.start=130194172;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr6 130194213 . A C 277.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.64;MQ0=0;OQ=8881.10;QD=40.74;RankSumP=1.00000;SB=-3091.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.331T>G;refseq.codonCoord=111;refseq.end=130194213;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_001010876;refseq.name2=C6orf191;refseq.positionType=CDS;refseq.proteinCoordStr=p.F111V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=12;refseq.start=130194213;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 130196379 . A G 222.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=11976.10;QD=39.66;RankSumP=1.00000;SB=-5525.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.238T>C;refseq.codonCoord=80;refseq.end=130196379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_001010876;refseq.name2=C6orf191;refseq.positionType=CDS;refseq.proteinCoordStr=p.F80L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=45;refseq.start=130196379;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr6 130415795 . C A 208.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.93;MQ0=0;OQ=4633.10;QD=16.49;RankSumP=0.482907;SB=-1628.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.473C>A;refseq.codingCoordStr_2=c.548C>A;refseq.codonCoord_1=158;refseq.codonCoord_2=183;refseq.end_1=130415795;refseq.end_2=130415795;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=643;refseq.mrnaCoord_2=718;refseq.name2_1=L3MBTL3;refseq.name2_2=L3MBTL3;refseq.name_1=NM_001007102;refseq.name_2=NM_032438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T158N;refseq.proteinCoordStr_2=p.T183N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=130415795;refseq.start_2=130415795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr6 130422939 . T C 103.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.63;MQ0=0;OQ=4720.24;QD=17.04;RankSumP=0.392792;SB=-1660.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.750T>C;refseq.codingCoordStr_2=c.825T>C;refseq.codonCoord_1=250;refseq.codonCoord_2=275;refseq.end_1=130422939;refseq.end_2=130422939;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=920;refseq.mrnaCoord_2=995;refseq.name2_1=L3MBTL3;refseq.name2_2=L3MBTL3;refseq.name_1=NM_001007102;refseq.name_2=NM_032438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P250P;refseq.proteinCoordStr_2=p.P275P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=130422939;refseq.start_2=130422939;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr6 130803497 . C T 127.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=98.76;MQ0=0;OQ=2916.85;QD=15.11;RankSumP=0.0402439;SB=-841.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.237C>T;refseq.codonCoord=79;refseq.end=130803497;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2615;refseq.name=NM_052913;refseq.name2=TMEM200A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A79A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=253;refseq.start=130803497;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr6 131232531 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1012;Dels=0.00;HRun=0;HaplotypeScore=30.93;MQ=98.69;MQ0=0;OQ=20126.31;QD=19.89;RankSumP=0.000146096;SB=-6944.23;SecondBestBaseQ=28;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_3=c.2472C>T;refseq.codonCoord_3=824;refseq.end_1=131247918;refseq.end_2=131247918;refseq.end_3=131232531;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=2654;refseq.name2_1=EPB41L2;refseq.name2_2=EPB41L2;refseq.name2_3=EPB41L2;refseq.name_1=NM_001135554;refseq.name_2=NM_001135555;refseq.name_3=NM_001431;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P824P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCC;refseq.spliceDist_3=-136;refseq.start_1=131226562;refseq.start_2=131226562;refseq.start_3=131232531;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCT;set=filterInsoap-gatk GT 1/0 chr6 131319113 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=145;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.78;MQ0=0;OQ=2770.94;QD=19.11;RankSumP=0.247431;SB=-1269.24;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.206C>G;refseq.codingCoordStr_2=c.206C>G;refseq.codingCoordStr_3=c.206C>G;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.codonCoord_3=69;refseq.end_1=131319113;refseq.end_2=131319113;refseq.end_3=131319113;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=388;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=388;refseq.name2_1=EPB41L2;refseq.name2_2=EPB41L2;refseq.name2_3=EPB41L2;refseq.name_1=NM_001135554;refseq.name_2=NM_001135555;refseq.name_3=NM_001431;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S69W;refseq.proteinCoordStr_2=p.S69W;refseq.proteinCoordStr_3=p.S69W;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=220;refseq.spliceDist_2=220;refseq.spliceDist_3=220;refseq.start_1=131319113;refseq.start_2=131319113;refseq.start_3=131319113;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 0/1 chr6 131562348 . G A 151.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=2;HaplotypeScore=4.96;MQ=98.64;MQ0=0;OQ=5040.51;QD=16.97;RankSumP=0.0844450;SB=-1589.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.578G>A;refseq.codonCoord=193;refseq.end=131562348;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_016377;refseq.name2=AKAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S193N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=55;refseq.start=131562348;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr6 131986290 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=209;Dels=0.00;HRun=2;HaplotypeScore=21.24;MQ=97.84;MQ0=0;OQ=308.72;QD=1.48;RankSumP=0.00000;SB=98.92;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.290T>G;refseq.codingCoordStr_2=c.290T>G;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=131986290;refseq.end_2=131986290;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=464;refseq.mrnaCoord_2=464;refseq.name2_1=MED23;refseq.name2_2=MED23;refseq.name_1=NM_004830;refseq.name_2=NM_015979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V97G;refseq.proteinCoordStr_2=p.V97G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=131986290;refseq.start_2=131986290;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr6 132037006 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1669.45;QD=13.57;RankSumP=0.410433;SB=-420.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.654A>G;refseq.codonCoord=218;refseq.end=132037006;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_005021;refseq.name2=ENPP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P218P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=12;refseq.start=132037006;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr6 132214061 . A C 211.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=8.56;MQ=98.83;MQ0=0;OQ=5535.44;QD=20.58;RankSumP=0.298542;SB=-2203.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.517A>C;refseq.codonCoord=173;refseq.end=132214061;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_006208;refseq.name2=ENPP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K173Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-40;refseq.start=132214061;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr6 132313645 . G C 181.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=354.20;QD=35.42;RankSumP=1.00000;SB=-144.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.247C>G;refseq.codonCoord=83;refseq.end=132313645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_001901;refseq.name2=CTGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H83D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-43;refseq.start=132313645;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/1 chr6 132313652 . T G 141.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=274.05;QD=34.26;RankSumP=1.00000;SB=-123.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.240A>C;refseq.codonCoord=80;refseq.end=132313652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_001901;refseq.name2=CTGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.L80L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-50;refseq.start=132313652;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 1/1 chr6 132313673 . T G 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=8;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=258.09;QD=32.26;RankSumP=1.00000;SB=-85.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.219A>C;refseq.codonCoord=73;refseq.end=132313673;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_001901;refseq.name2=CTGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P73P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-71;refseq.start=132313673;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/1 chr6 132678513 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=697;Dels=0.00;HRun=0;HaplotypeScore=11.93;MQ=98.82;MQ0=0;OQ=18116.78;QD=25.99;RankSumP=0.282950;SB=-6484.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1462G>C;refseq.codonCoord=488;refseq.end=132678513;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1561;refseq.name=NM_015529;refseq.name2=MOXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E488Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-47;refseq.start=132678513;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr6 132764220 . G A 40.23 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.92;MQ0=0;QD=10.06;RankSumP=0.666667;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.39C>T;refseq.codonCoord=13;refseq.end=132764220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_015529;refseq.name2=MOXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=138;refseq.start=132764220;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr6 132933449 . A G 268.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=98.83;MQ0=0;OQ=6490.54;QD=19.26;RankSumP=0.0462543;SB=-1767.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.296A>G;refseq.codonCoord=99;refseq.end=132933449;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_175067;refseq.name2=TAAR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y99C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=296;refseq.start=132933449;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr6 132952305 . G A 283.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4259.55;QD=43.03;RankSumP=1.00000;SB=-1730.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.214C>T;refseq.codonCoord=72;refseq.end=132952305;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_003967;refseq.name2=TAAR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L72L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=266;refseq.start=132952305;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr6 132980387 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.651T>G;refseq.codingCoordStr_2=c.516T>G;refseq.codonCoord_1=217;refseq.codonCoord_2=172;refseq.end_1=132980387;refseq.end_2=132980387;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=651;refseq.mrnaCoord_2=539;refseq.name2_1=TAAR2;refseq.name2_2=TAAR2;refseq.name_1=NM_001033080;refseq.name_2=NM_014626;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G217G;refseq.proteinCoordStr_2=p.G172G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-406;refseq.spliceDist_2=-406;refseq.start_1=132980387;refseq.start_2=132980387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr6 133074626 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.256A>G;refseq.codonCoord=86;refseq.end=133074626;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_004666;refseq.name2=VNN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N86D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=46;refseq.start=133074626;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr6 133076791 . G A 288.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.93;MQ0=0;OQ=7785.61;QD=41.41;RankSumP=1.00000;SB=-1018.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.77C>T;refseq.codonCoord=26;refseq.end=133076791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=97;refseq.name=NM_004666;refseq.name2=VNN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T26I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=97;refseq.start=133076791;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr6 133094309 . C T 331.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=98.82;MQ0=0;OQ=4558.27;QD=16.88;RankSumP=0.224068;SB=-1269.16;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.end_1=133097074;refseq.end_2=133097074;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.name2_1=VNN3;refseq.name2_2=VNN3;refseq.name_1=NR_028291;refseq.name_2=NR_028290;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.start_1=133091776;refseq.start_2=133091822;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr6 133097164 . T C 192.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.95;MQ0=0;OQ=2752.06;QD=16.09;RankSumP=0.203830;SB=-1039.85;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.end_1=133097164;refseq.end_2=133097164;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=338;refseq.mrnaCoord_2=338;refseq.name2_1=VNN3;refseq.name2_2=VNN3;refseq.name_1=NR_028290;refseq.name_2=NR_028291;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=133097164;refseq.start_2=133097164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr6 133112688 . G T 302.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=6.94;MQ=98.77;MQ0=0;OQ=8673.60;QD=39.79;RankSumP=1.00000;SB=-3521.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1210C>A;refseq.codingCoordStr_2=c.1051C>A;refseq.codonCoord_1=404;refseq.codonCoord_2=351;refseq.end_1=133112688;refseq.end_2=133112688;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1221;refseq.mrnaCoord_2=1163;refseq.name2_1=VNN2;refseq.name2_2=VNN2;refseq.name_1=NM_004665;refseq.name_2=NM_078488;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L404M;refseq.proteinCoordStr_2=p.L351M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=133112688;refseq.start_2=133112688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr6 133179827 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=254;Dels=0.00;HRun=2;HaplotypeScore=2.29;MQ=90.34;MQ0=8;OQ=67.84;QD=0.27;SB=19.88;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.270C>G;refseq.codonCoord=90;refseq.end=133179827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_001016;refseq.name2=RPS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G90G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=36;refseq.start=133179827;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:198,56:203:-71.19,-61.13,-930.38:99 chr6 133823964 . C A 14.36 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=407;Dels=0.00;HRun=1;HaplotypeScore=29.32;MQ=98.29;MQ0=0;QD=0.04;RankSumP=0.00000;SB=506.12;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.390C>A;refseq.codingCoordStr_2=c.321C>A;refseq.codingCoordStr_3=c.390C>A;refseq.codonCoord_1=130;refseq.codonCoord_2=107;refseq.codonCoord_3=130;refseq.end_1=133823964;refseq.end_2=133823964;refseq.end_3=133823964;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=848;refseq.mrnaCoord_2=779;refseq.mrnaCoord_3=848;refseq.name2_1=EYA4;refseq.name2_2=EYA4;refseq.name2_3=EYA4;refseq.name_1=NM_004100;refseq.name_2=NM_172103;refseq.name_3=NM_172105;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y130*;refseq.proteinCoordStr_2=p.Y107*;refseq.proteinCoordStr_3=p.Y130*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=133823964;refseq.start_2=133823964;refseq.start_3=133823964;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr6 133831421 . G A 246.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=98.14;MQ0=0;OQ=18023.58;QD=41.53;RankSumP=1.00000;SB=-7678.95;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.829G>A;refseq.codingCoordStr_2=c.760G>A;refseq.codingCoordStr_3=c.829G>A;refseq.codonCoord_1=277;refseq.codonCoord_2=254;refseq.codonCoord_3=277;refseq.end_1=133831421;refseq.end_2=133831421;refseq.end_3=133831421;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1287;refseq.mrnaCoord_2=1218;refseq.mrnaCoord_3=1287;refseq.name2_1=EYA4;refseq.name2_2=EYA4;refseq.name2_3=EYA4;refseq.name_1=NM_004100;refseq.name_2=NM_172103;refseq.name_3=NM_172105;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G277S;refseq.proteinCoordStr_2=p.G254S;refseq.proteinCoordStr_3=p.G277S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=133831421;refseq.start_2=133831421;refseq.start_3=133831421;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr6 133831487 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.895A>C;refseq.codingCoordStr_2=c.826A>C;refseq.codingCoordStr_3=c.895A>C;refseq.codonCoord_1=299;refseq.codonCoord_2=276;refseq.codonCoord_3=299;refseq.end_1=133831487;refseq.end_2=133831487;refseq.end_3=133831487;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1284;refseq.mrnaCoord_3=1353;refseq.name2_1=EYA4;refseq.name2_2=EYA4;refseq.name2_3=EYA4;refseq.name_1=NM_004100;refseq.name_2=NM_172103;refseq.name_3=NM_172105;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T299P;refseq.proteinCoordStr_2=p.T276P;refseq.proteinCoordStr_3=p.T299P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=133831487;refseq.start_2=133831487;refseq.start_3=133831487;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr6 134391661 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.995T>C;refseq.codonCoord=332;refseq.end=134391661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_145176;refseq.name2=SLC2A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I332T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-450;refseq.start=134391661;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 134533959 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1218C>A;refseq.codingCoordStr_2=c.1017C>A;refseq.codingCoordStr_3=c.975C>A;refseq.codingCoordStr_4=c.933C>A;refseq.codonCoord_1=406;refseq.codonCoord_2=339;refseq.codonCoord_3=325;refseq.codonCoord_4=311;refseq.end_1=134533959;refseq.end_2=134533959;refseq.end_3=134533959;refseq.end_4=134533959;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1816;refseq.mrnaCoord_2=1067;refseq.mrnaCoord_3=1246;refseq.mrnaCoord_4=1022;refseq.name2_1=SGK1;refseq.name2_2=SGK1;refseq.name2_3=SGK1;refseq.name2_4=SGK1;refseq.name_1=NM_001143676;refseq.name_2=NM_001143677;refseq.name_3=NM_001143678;refseq.name_4=NM_005627;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N406K;refseq.proteinCoordStr_2=p.N339K;refseq.proteinCoordStr_3=p.N325K;refseq.proteinCoordStr_4=p.N311K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.start_1=134533959;refseq.start_2=134533959;refseq.start_3=134533959;refseq.start_4=134533959;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 0/1 chr6 135329226 . A G 213.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.48;MQ0=0;OQ=6440.71;QD=22.13;RankSumP=0.225655;SB=-2176.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1851T>C;refseq.codingCoordStr_2=c.1977T>C;refseq.codonCoord_1=617;refseq.codonCoord_2=659;refseq.end_1=135329226;refseq.end_2=135329226;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2058;refseq.mrnaCoord_2=2184;refseq.name2_1=HBS1L;refseq.name2_2=HBS1L;refseq.name_1=NM_001145158;refseq.name_2=NM_006620;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F617F;refseq.proteinCoordStr_2=p.F659F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=135329226;refseq.start_2=135329226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr6 136624094 . A T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.277121;SecondBestBaseQ=34;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2604+2;refseq.codingCoordStr_2=c.2238+2;refseq.codingCoordStr_3=c.2757+2;refseq.end_1=136624094;refseq.end_2=136624094;refseq.end_3=136624094;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=136624094;refseq.start_2=136624094;refseq.start_3=136624094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=soap GT 0/1 chr6 136624110 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=14.75;MQ=89.36;MQ0=17;OQ=3119.56;QD=9.02;RankSumP=0.266885;SB=-407.66;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2590C>T;refseq.codingCoordStr_2=c.2224C>T;refseq.codingCoordStr_3=c.2743C>T;refseq.codonCoord_1=864;refseq.codonCoord_2=742;refseq.codonCoord_3=915;refseq.end_1=136624110;refseq.end_2=136624110;refseq.end_3=136624110;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2843;refseq.mrnaCoord_2=2477;refseq.mrnaCoord_3=2996;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R864C;refseq.proteinCoordStr_2=p.R742C;refseq.proteinCoordStr_3=p.R915C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=136624110;refseq.start_2=136624110;refseq.start_3=136624110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/0 chr6 136624190 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=813;Dels=0.00;HRun=1;HaplotypeScore=21.40;MQ=76.45;MQ0=57;OQ=11942.61;QD=14.69;RankSumP=0.481622;SB=-4140.43;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2510C>A;refseq.codingCoordStr_2=c.2144C>A;refseq.codingCoordStr_3=c.2663C>A;refseq.codonCoord_1=837;refseq.codonCoord_2=715;refseq.codonCoord_3=888;refseq.end_1=136624190;refseq.end_2=136624190;refseq.end_3=136624190;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2763;refseq.mrnaCoord_2=2397;refseq.mrnaCoord_3=2916;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T837N;refseq.proteinCoordStr_2=p.T715N;refseq.proteinCoordStr_3=p.T888N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-95;refseq.spliceDist_2=-95;refseq.spliceDist_3=-95;refseq.start_1=136624190;refseq.start_2=136624190;refseq.start_3=136624190;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 0/1 chr6 136631118 . G T 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=213;Dels=0.00;HRun=1;HaplotypeScore=1.49;MQ=78.87;MQ0=9;OQ=145.20;QD=0.68;RankSumP=0.323853;SB=12.74;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2266C>A;refseq.codingCoordStr_2=c.1753C>A;refseq.codingCoordStr_3=c.2272C>A;refseq.codonCoord_1=756;refseq.codonCoord_2=585;refseq.codonCoord_3=758;refseq.end_1=136631118;refseq.end_2=136631118;refseq.end_3=136631118;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2519;refseq.mrnaCoord_2=2006;refseq.mrnaCoord_3=2525;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P756T;refseq.proteinCoordStr_2=p.P585T;refseq.proteinCoordStr_3=p.P758T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=136631118;refseq.start_2=136631118;refseq.start_3=136631118;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=soap-filterIngatk GT 0/1 chr6 136632306 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=90.17;MQ0=7;OQ=624.84;QD=2.56;RankSumP=0.292387;SB=-44.47;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2175A>G;refseq.codingCoordStr_2=c.1662A>G;refseq.codingCoordStr_3=c.2181A>G;refseq.codonCoord_1=725;refseq.codonCoord_2=554;refseq.codonCoord_3=727;refseq.end_1=136632306;refseq.end_2=136632306;refseq.end_3=136632306;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2428;refseq.mrnaCoord_2=1915;refseq.mrnaCoord_3=2434;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P725P;refseq.proteinCoordStr_2=p.P554P;refseq.proteinCoordStr_3=p.P727P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=136632306;refseq.start_2=136632306;refseq.start_3=136632306;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr6 136632333 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=2;HaplotypeScore=1.94;MQ=89.18;MQ0=7;OQ=1284.05;QD=5.18;RankSumP=0.373233;SB=-415.88;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2148T>G;refseq.codingCoordStr_2=c.1635T>G;refseq.codingCoordStr_3=c.2154T>G;refseq.codonCoord_1=716;refseq.codonCoord_2=545;refseq.codonCoord_3=718;refseq.end_1=136632333;refseq.end_2=136632333;refseq.end_3=136632333;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2401;refseq.mrnaCoord_2=1888;refseq.mrnaCoord_3=2407;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S716R;refseq.proteinCoordStr_2=p.S545R;refseq.proteinCoordStr_3=p.S718R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.start_1=136632333;refseq.start_2=136632333;refseq.start_3=136632333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 0/1 chr6 136632391 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=94.58;MQ0=0;OQ=1203.32;QD=6.72;RankSumP=0.0310095;SB=-403.16;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2090G>A;refseq.codingCoordStr_2=c.1577G>A;refseq.codingCoordStr_3=c.2096G>A;refseq.codonCoord_1=697;refseq.codonCoord_2=526;refseq.codonCoord_3=699;refseq.end_1=136632391;refseq.end_2=136632391;refseq.end_3=136632391;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2343;refseq.mrnaCoord_2=1830;refseq.mrnaCoord_3=2349;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R697H;refseq.proteinCoordStr_2=p.R526H;refseq.proteinCoordStr_3=p.R699H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=136632391;refseq.start_2=136632391;refseq.start_3=136632391;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr6 136632405 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=94.90;MQ0=0;OQ=918.76;QD=6.04;RankSumP=0.197919;SB=-359.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.2076G>A;refseq.codingCoordStr_2=c.1563G>A;refseq.codingCoordStr_3=c.2082G>A;refseq.codonCoord_1=692;refseq.codonCoord_2=521;refseq.codonCoord_3=694;refseq.end_1=136632405;refseq.end_2=136632405;refseq.end_3=136632405;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2329;refseq.mrnaCoord_2=1816;refseq.mrnaCoord_3=2335;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R692R;refseq.proteinCoordStr_2=p.R521R;refseq.proteinCoordStr_3=p.R694R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=136632405;refseq.start_2=136632405;refseq.start_3=136632405;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 0/1 chr6 136634876 . G C 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=89.29;MQ0=0;OQ=502.28;QD=6.88;SB=-104.30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1987C>G;refseq.codingCoordStr_2=c.1474C>G;refseq.codingCoordStr_3=c.1993C>G;refseq.codonCoord_1=663;refseq.codonCoord_2=492;refseq.codonCoord_3=665;refseq.end_1=136634876;refseq.end_2=136634876;refseq.end_3=136634876;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2240;refseq.mrnaCoord_2=1727;refseq.mrnaCoord_3=2246;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H663D;refseq.proteinCoordStr_2=p.H492D;refseq.proteinCoordStr_3=p.H665D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=136634876;refseq.start_2=136634876;refseq.start_3=136634876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:58,15:72:-75.19,-21.68,-283.38:99 chr6 136635985 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=876;Dels=0.00;HRun=0;HaplotypeScore=17.26;MQ=95.79;MQ0=0;OQ=6490.18;QD=7.41;RankSumP=0.322854;SB=-1565.46;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1880A>G;refseq.codingCoordStr_2=c.1367A>G;refseq.codingCoordStr_3=c.1886A>G;refseq.codonCoord_1=627;refseq.codonCoord_2=456;refseq.codonCoord_3=629;refseq.end_1=136635985;refseq.end_2=136635985;refseq.end_3=136635985;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2133;refseq.mrnaCoord_2=1620;refseq.mrnaCoord_3=2139;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N627S;refseq.proteinCoordStr_2=p.N456S;refseq.proteinCoordStr_3=p.N629S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=136635985;refseq.start_2=136635985;refseq.start_3=136635985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/0 chr6 136638697 rs7762367 A G 2.82 PASS AC=1;AF=0.50;AN=2;DB;DP=749;Dels=0.00;HRun=2;HaplotypeScore=2.26;MQ=93.86;MQ0=0;OQ=5484.41;QD=7.32;SB=-1110.74;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1653T>C;refseq.codingCoordStr_2=c.1140T>C;refseq.codingCoordStr_3=c.1659T>C;refseq.codonCoord_1=551;refseq.codonCoord_2=380;refseq.codonCoord_3=553;refseq.end_1=136638697;refseq.end_2=136638697;refseq.end_3=136638697;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1906;refseq.mrnaCoord_2=1393;refseq.mrnaCoord_3=1912;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P551P;refseq.proteinCoordStr_2=p.P380P;refseq.proteinCoordStr_3=p.P553P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=136638697;refseq.start_2=136638697;refseq.start_3=136638697;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=gatk GT:AD:DP:GL:GQ 0/1:547,202:682:-547.44,-205.38,-2370.72:99 chr6 136638955 . T C 114.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=81.33;MQ0=25;OQ=6139.38;QD=23.43;RankSumP=0.439870;SB=-2524.40;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.1395A>G;refseq.codingCoordStr_3=c.1401A>G;refseq.codonCoord_2=465;refseq.codonCoord_3=467;refseq.end_1=136640685;refseq.end_2=136638955;refseq.end_3=136638955;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1648;refseq.mrnaCoord_3=1654;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077441;refseq.name_2=NM_001077440;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V465V;refseq.proteinCoordStr_3=p.V467V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_2=-282;refseq.spliceDist_3=-282;refseq.start_1=136638831;refseq.start_2=136638955;refseq.start_3=136638955;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr6 136638974 . A T 159.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=87.68;MQ0=8;OQ=5980.34;QD=23.73;RankSumP=0.0341248;SB=-2321.06;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.1376T>A;refseq.codingCoordStr_3=c.1382T>A;refseq.codonCoord_2=459;refseq.codonCoord_3=461;refseq.end_1=136640685;refseq.end_2=136638974;refseq.end_3=136638974;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1629;refseq.mrnaCoord_3=1635;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077441;refseq.name_2=NM_001077440;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L459H;refseq.proteinCoordStr_3=p.L461H;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_2=-301;refseq.spliceDist_3=-301;refseq.start_1=136638831;refseq.start_2=136638974;refseq.start_3=136638974;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr6 136638981 . A C 175.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=84.58;MQ0=5;OQ=6144.60;QD=24.10;RankSumP=0.230995;SB=-1969.38;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_2=c.1369T>G;refseq.codingCoordStr_3=c.1375T>G;refseq.codonCoord_2=457;refseq.codonCoord_3=459;refseq.end_1=136640685;refseq.end_2=136638981;refseq.end_3=136638981;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1622;refseq.mrnaCoord_3=1628;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077441;refseq.name_2=NM_001077440;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y457D;refseq.proteinCoordStr_3=p.Y459D;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_2=-308;refseq.spliceDist_3=-308;refseq.start_1=136638831;refseq.start_2=136638981;refseq.start_3=136638981;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr6 136640797 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=394;Dels=0.00;HRun=1;HaplotypeScore=4.26;MQ=68.91;MQ0=66;OQ=2311.78;QD=5.87;RankSumP=0.0640156;SB=-779.21;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.909C>T;refseq.codingCoordStr_2=c.915C>T;refseq.codingCoordStr_3=c.915C>T;refseq.codonCoord_1=303;refseq.codonCoord_2=305;refseq.codonCoord_3=305;refseq.end_1=136640797;refseq.end_2=136640797;refseq.end_3=136640797;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1162;refseq.mrnaCoord_2=1168;refseq.mrnaCoord_3=1168;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I303I;refseq.proteinCoordStr_2=p.I305I;refseq.proteinCoordStr_3=p.I305I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.start_1=136640797;refseq.start_2=136640797;refseq.start_3=136640797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr6 136641086 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1116;Dels=0.00;HRun=0;HaplotypeScore=43.75;MQ=94.35;MQ0=7;OQ=22577.27;QD=20.23;RankSumP=0.387796;SB=-8964.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.620C>G;refseq.codingCoordStr_2=c.626C>G;refseq.codingCoordStr_3=c.626C>G;refseq.codonCoord_1=207;refseq.codonCoord_2=209;refseq.codonCoord_3=209;refseq.end_1=136641086;refseq.end_2=136641086;refseq.end_3=136641086;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=873;refseq.mrnaCoord_2=879;refseq.mrnaCoord_3=879;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S207C;refseq.proteinCoordStr_2=p.S209C;refseq.proteinCoordStr_3=p.S209C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-391;refseq.spliceDist_2=-391;refseq.spliceDist_3=-391;refseq.start_1=136641086;refseq.start_2=136641086;refseq.start_3=136641086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr6 136641097 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=1080;Dels=0.00;HRun=0;HaplotypeScore=30.67;MQ=94.46;MQ0=7;OQ=16395.20;QD=15.18;RankSumP=0.00215741;SB=-6337.75;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.609A>G;refseq.codingCoordStr_2=c.615A>G;refseq.codingCoordStr_3=c.615A>G;refseq.codonCoord_1=203;refseq.codonCoord_2=205;refseq.codonCoord_3=205;refseq.end_1=136641097;refseq.end_2=136641097;refseq.end_3=136641097;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=868;refseq.mrnaCoord_3=868;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S203S;refseq.proteinCoordStr_2=p.S205S;refseq.proteinCoordStr_3=p.S205S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-402;refseq.spliceDist_2=-402;refseq.spliceDist_3=-402;refseq.start_1=136641097;refseq.start_2=136641097;refseq.start_3=136641097;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=filterInsoap-gatk GT 1/0 chr6 136641515 . C G 244.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=90.20;MQ0=4;OQ=7419.92;QD=19.32;RankSumP=0.288860;SB=-2150.83;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.191G>C;refseq.codingCoordStr_2=c.197G>C;refseq.codingCoordStr_3=c.197G>C;refseq.codonCoord_1=64;refseq.codonCoord_2=66;refseq.codonCoord_3=66;refseq.end_1=136641515;refseq.end_2=136641515;refseq.end_3=136641515;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=444;refseq.mrnaCoord_2=450;refseq.mrnaCoord_3=450;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G64A;refseq.proteinCoordStr_2=p.G66A;refseq.proteinCoordStr_3=p.G66A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=87;refseq.spliceDist_2=93;refseq.spliceDist_3=93;refseq.start_1=136641515;refseq.start_2=136641515;refseq.start_3=136641515;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr6 136641529 . G A 235.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=16.44;MQ=93.57;MQ0=1;OQ=5977.54;QD=16.74;RankSumP=0.360892;SB=-1622.13;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.177C>T;refseq.codingCoordStr_2=c.183C>T;refseq.codingCoordStr_3=c.183C>T;refseq.codonCoord_1=59;refseq.codonCoord_2=61;refseq.codonCoord_3=61;refseq.end_1=136641529;refseq.end_2=136641529;refseq.end_3=136641529;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=430;refseq.mrnaCoord_2=436;refseq.mrnaCoord_3=436;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y59Y;refseq.proteinCoordStr_2=p.Y61Y;refseq.proteinCoordStr_3=p.Y61Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=73;refseq.spliceDist_2=79;refseq.spliceDist_3=79;refseq.start_1=136641529;refseq.start_2=136641529;refseq.start_3=136641529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr6 136641535 . G A 316.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=10.69;MQ=94.64;MQ0=0;OQ=5649.04;QD=16.61;RankSumP=0.362838;SB=-1615.93;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.171C>T;refseq.codingCoordStr_2=c.177C>T;refseq.codingCoordStr_3=c.177C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=136641535;refseq.end_2=136641535;refseq.end_3=136641535;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=424;refseq.mrnaCoord_2=430;refseq.mrnaCoord_3=430;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R57R;refseq.proteinCoordStr_2=p.R59R;refseq.proteinCoordStr_3=p.R59R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=67;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.start_1=136641535;refseq.start_2=136641535;refseq.start_3=136641535;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr6 136641604 . A G 19.97 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.97;MQ0=0;QD=0.19;SB=-16.66;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.105-3;refseq.codingCoordStr_2=c.108T>C;refseq.codingCoordStr_3=c.108T>C;refseq.codonCoord_2=36;refseq.codonCoord_3=36;refseq.end_1=136641604;refseq.end_2=136641604;refseq.end_3=136641604;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=361;refseq.mrnaCoord_3=361;refseq.name2_1=BCLAF1;refseq.name2_2=BCLAF1;refseq.name2_3=BCLAF1;refseq.name_1=NM_001077440;refseq.name_2=NM_001077441;refseq.name_3=NM_014739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S36S;refseq.proteinCoordStr_3=p.S36S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-3;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_-3;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=136641604;refseq.start_2=136641604;refseq.start_3=136641604;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:87,16:94:-33.58,-28.31,-364.11:52.76 chr6 136723865 . G A 205.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=601.18;QD=40.08;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1672C>T;refseq.codonCoord=558;refseq.end=136723865;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1918;refseq.name=NM_003980;refseq.name2=MAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R558W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-30;refseq.start=136723865;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr6 137154830 . G A 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=95.04;MQ0=0;OQ=200.72;QD=25.09;RankSumP=1.00000;SB=-55.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.159C>T;refseq.codonCoord=53;refseq.end=137154830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_005923;refseq.name2=MAP3K5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S53S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-290;refseq.start=137154830;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/1 chr6 137367540 . C T 454.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=95.22;MQ0=0;OQ=4939.80;QD=39.84;RankSumP=1.00000;SB=-2246.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.775G>A;refseq.codonCoord=259;refseq.end=137367540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1208;refseq.name=NM_014432;refseq.name2=IL20RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V259I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=51;refseq.start=137367540;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 138454962 . A G 286.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=13.10;MQ=98.60;MQ0=0;OQ=4108.79;QD=17.05;RankSumP=0.125147;SB=-1372.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.492T>C;refseq.codonCoord=164;refseq.end=138454962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_022121;refseq.name2=PERP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I164I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=137;refseq.start=138454962;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr6 138455026 . G C 312.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=12.75;MQ=98.16;MQ0=0;OQ=5626.94;QD=17.00;RankSumP=0.153384;SB=-2271.35;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.428C>G;refseq.codonCoord=143;refseq.end=138455026;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_022121;refseq.name2=PERP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P143R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=73;refseq.start=138455026;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr6 139148173 . A C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.78933e-08;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.709A>C;refseq.codonCoord=237;refseq.end=139148173;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=864;refseq.name=NM_015439;refseq.name2=CCDC28A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T237P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-39;refseq.start=139148173;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr6 139239302 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=97.81;MQ0=0;OQ=457.16;QD=9.73;RankSumP=0.658890;SB=-172.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1579G>A;refseq.codonCoord=527;refseq.end=139239302;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1682;refseq.name=NM_001077706;refseq.name2=ECT2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E527K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=139239302;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr6 139271565 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=2;HaplotypeScore=21.07;MQ=98.96;MQ0=0;OQ=5827.16;QD=19.11;RankSumP=0.240497;SB=-1636.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2068G>A;refseq.codingCoordStr_2=c.2146G>A;refseq.codonCoord_1=690;refseq.codonCoord_2=716;refseq.end_1=139271565;refseq.end_2=139271565;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2647;refseq.mrnaCoord_2=2725;refseq.name2_1=REPS1;refseq.name2_2=REPS1;refseq.name_1=NM_001128617;refseq.name_2=NM_031922;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V690I;refseq.proteinCoordStr_2=p.V716I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=139271565;refseq.start_2=139271565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr6 139529529 . T C 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.32;MQ0=0;OQ=461.96;QD=27.17;RankSumP=1.00000;SB=-223.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.687T>C;refseq.codonCoord=229;refseq.end=139529529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=972;refseq.name=NM_016217;refseq.name2=HECA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N229N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=416;refseq.start=139529529;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr6 139610736 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=242;Dels=0.00;HRun=0;HaplotypeScore=11.51;MQ=98.99;MQ0=0;OQ=4552.38;QD=18.81;RankSumP=0.336343;SB=-904.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1081A>G;refseq.codonCoord=361;refseq.end=139610736;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_153235;refseq.name2=TXLNB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T361A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=139610736;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr6 142566855 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.738A>C;refseq.codonCoord=246;refseq.end=142566855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_016485;refseq.name2=VTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I246I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-41;refseq.start=142566855;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr6 143116393 . T C 293.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=98.79;MQ0=0;OQ=6768.53;QD=15.63;RankSumP=0.127256;SB=-1709.24;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.6885A>G;refseq.codonCoord=2295;refseq.end=143116393;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7628;refseq.name=NM_006734;refseq.name2=HIVEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2295P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=369;refseq.start=143116393;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr6 143132956 . A G 108.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=1.98;MQ=98.96;MQ0=0;OQ=2787.22;QD=17.10;RankSumP=0.0771589;SB=-1340.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4613T>C;refseq.codonCoord=1538;refseq.end=143132956;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5356;refseq.name=NM_006734;refseq.name2=HIVEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1538P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-575;refseq.start=143132956;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr6 143136780 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.789T>G;refseq.codonCoord=263;refseq.end=143136780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1532;refseq.name=NM_006734;refseq.name2=HIVEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G263G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1176;refseq.start=143136780;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 143858552 . C T 199.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=98.87;MQ0=0;OQ=2921.12;QD=15.79;RankSumP=0.240512;SB=-1189.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1389G>A;refseq.codonCoord=463;refseq.end=143858552;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1481;refseq.name=NM_032020;refseq.name2=FUCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L463L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=126;refseq.start=143858552;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr6 143864805 . G A 310.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=98.95;MQ0=0;OQ=8150.44;QD=19.93;RankSumP=0.479587;SB=-2782.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1111C>T;refseq.codonCoord=371;refseq.end=143864805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_032020;refseq.name2=FUCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H371Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-44;refseq.start=143864805;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr6 143864850 . T C 371.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=6.70;MQ=98.87;MQ0=0;OQ=5828.71;QD=19.24;RankSumP=0.293681;SB=-1898.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1066A>G;refseq.codonCoord=356;refseq.end=143864850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1158;refseq.name=NM_032020;refseq.name2=FUCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M356V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-89;refseq.start=143864850;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr6 143866797 . G T 189.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=4354.25;QD=18.07;RankSumP=0.0726777;SB=-1285.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.698C>A;refseq.codonCoord=233;refseq.end=143866797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_032020;refseq.name2=FUCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A233E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-55;refseq.start=143866797;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr6 143866996 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.499G>T;refseq.codonCoord=167;refseq.end=143866996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_032020;refseq.name2=FUCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V167L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=87;refseq.start=143866996;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr6 144128140 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.744G>C;refseq.codingCoordStr_2=c.504G>C;refseq.codingCoordStr_3=c.471G>C;refseq.codingCoordStr_4=c.711G>C;refseq.codonCoord_1=248;refseq.codonCoord_2=168;refseq.codonCoord_3=157;refseq.codonCoord_4=237;refseq.end_1=144128140;refseq.end_2=144128140;refseq.end_3=144128140;refseq.end_4=144128140;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=943;refseq.mrnaCoord_2=703;refseq.mrnaCoord_3=601;refseq.mrnaCoord_4=841;refseq.name2_1=PHACTR2;refseq.name2_2=PHACTR2;refseq.name2_3=PHACTR2;refseq.name2_4=PHACTR2;refseq.name_1=NM_001100164;refseq.name_2=NM_001100165;refseq.name_3=NM_001100166;refseq.name_4=NM_014721;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S248S;refseq.proteinCoordStr_2=p.S168S;refseq.proteinCoordStr_3=p.S157S;refseq.proteinCoordStr_4=p.S237S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.start_1=144128140;refseq.start_2=144128140;refseq.start_3=144128140;refseq.start_4=144128140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 0/1 chr6 144304524 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.codingCoordStr_1=c.1122A>C;refseq.codingCoordStr_2=c.1122A>C;refseq.codingCoordStr_3=c.1122A>C;refseq.codingCoordStr_4=c.1122A>C;refseq.codingCoordStr_5=c.966A>C;refseq.codingCoordStr_6=c.966A>C;refseq.codingCoordStr_7=c.966A>C;refseq.codingCoordStr_8=c.1122A>C;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.codonCoord_3=374;refseq.codonCoord_4=374;refseq.codonCoord_5=322;refseq.codonCoord_6=322;refseq.codonCoord_7=322;refseq.codonCoord_8=374;refseq.end_1=144304524;refseq.end_2=144304524;refseq.end_3=144304524;refseq.end_4=144304524;refseq.end_5=144304524;refseq.end_6=144304524;refseq.end_7=144304524;refseq.end_8=144304524;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1885;refseq.mrnaCoord_2=2026;refseq.mrnaCoord_3=1980;refseq.mrnaCoord_4=1979;refseq.mrnaCoord_5=1334;refseq.mrnaCoord_6=1518;refseq.mrnaCoord_7=1550;refseq.mrnaCoord_8=2012;refseq.name2_1=PLAGL1;refseq.name2_2=PLAGL1;refseq.name2_3=PLAGL1;refseq.name2_4=PLAGL1;refseq.name2_5=PLAGL1;refseq.name2_6=PLAGL1;refseq.name2_7=PLAGL1;refseq.name2_8=PLAGL1;refseq.name_1=NM_001080951;refseq.name_2=NM_001080952;refseq.name_3=NM_001080953;refseq.name_4=NM_001080954;refseq.name_5=NM_001080955;refseq.name_6=NM_001080956;refseq.name_7=NM_002656;refseq.name_8=NM_006718;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.I374I;refseq.proteinCoordStr_2=p.I374I;refseq.proteinCoordStr_3=p.I374I;refseq.proteinCoordStr_4=p.I374I;refseq.proteinCoordStr_5=p.I322I;refseq.proteinCoordStr_6=p.I322I;refseq.proteinCoordStr_7=p.I322I;refseq.proteinCoordStr_8=p.I374I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceAA_8=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.referenceCodon_6=ATA;refseq.referenceCodon_7=ATA;refseq.referenceCodon_8=ATA;refseq.spliceDist_1=970;refseq.spliceDist_2=970;refseq.spliceDist_3=970;refseq.spliceDist_4=970;refseq.spliceDist_5=970;refseq.spliceDist_6=970;refseq.spliceDist_7=970;refseq.spliceDist_8=970;refseq.start_1=144304524;refseq.start_2=144304524;refseq.start_3=144304524;refseq.start_4=144304524;refseq.start_5=144304524;refseq.start_6=144304524;refseq.start_7=144304524;refseq.start_8=144304524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantAA_7=Ile;refseq.variantAA_8=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;refseq.variantCodon_6=ATC;refseq.variantCodon_7=ATC;refseq.variantCodon_8=ATC;set=FilteredInAll GT 1/0 chr6 144458230 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=326;Dels=0.00;HRun=2;HaplotypeScore=45.63;MQ=96.62;MQ0=0;OQ=772.33;QD=2.37;RankSumP=0.00000;SB=396.24;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.98T>G;refseq.codonCoord=33;refseq.end=144458230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_031287;refseq.name2=SF3B5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=218;refseq.start=144458230;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 144786909 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr=chr6;refseq.codingCoordStr=c.405+2;refseq.end=144786909;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_007124;refseq.name2=UTRN;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=144786909;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 144800492 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=338;Dels=0.00;HRun=1;HaplotypeScore=13.01;MQ=98.88;MQ0=0;OQ=6979.51;QD=20.65;RankSumP=0.0932752;SB=-2496.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1158A>G;refseq.codonCoord=386;refseq.end=144800492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_007124;refseq.name2=UTRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E386E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-84;refseq.start=144800492;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr6 144850498 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.3944A>C;refseq.codonCoord=1315;refseq.end=144850498;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4036;refseq.name=NM_007124;refseq.name2=UTRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1315T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-29;refseq.start=144850498;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr6 144911601 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.6728T>G;refseq.codonCoord=2243;refseq.end=144911601;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6820;refseq.name=NM_007124;refseq.name2=UTRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2243G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-83;refseq.start=144911601;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr6 146049025 . C T 138.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=12.57;MQ=98.82;MQ0=0;OQ=11834.08;QD=40.12;RankSumP=1.00000;SB=-3884.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.402G>A;refseq.codingCoordStr_2=c.402G>A;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.end_1=146049025;refseq.end_2=146049025;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=759;refseq.mrnaCoord_2=759;refseq.name2_1=EPM2A;refseq.name2_2=EPM2A;refseq.name_1=NM_001018041;refseq.name_2=NM_005670;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G134G;refseq.proteinCoordStr_2=p.G134G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=146049025;refseq.start_2=146049025;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr6 146098169 . G C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.159C>G;refseq.codingCoordStr_2=c.159C>G;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=146098169;refseq.end_2=146098169;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=516;refseq.mrnaCoord_2=516;refseq.name2_1=EPM2A;refseq.name2_2=EPM2A;refseq.name_1=NM_001018041;refseq.name_2=NM_005670;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A53A;refseq.proteinCoordStr_2=p.A53A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-143;refseq.spliceDist_2=-143;refseq.start_1=146098169;refseq.start_2=146098169;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/1 chr6 146276337 . G A 297.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=98.58;MQ0=0;OQ=11594.69;QD=42.47;RankSumP=1.00000;SB=-5169.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.4296C>T;refseq.codingCoordStr_2=c.4308C>T;refseq.codonCoord_1=1432;refseq.codonCoord_2=1436;refseq.end_1=146276337;refseq.end_2=146276337;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4695;refseq.mrnaCoord_2=4707;refseq.name2_1=SHPRH;refseq.name2_2=SHPRH;refseq.name_1=NM_001042683;refseq.name_2=NM_173082;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C1432C;refseq.proteinCoordStr_2=p.C1436C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=146276337;refseq.start_2=146276337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr6 146796833 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1371.29;QD=15.41;RankSumP=0.183406;SB=-577.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2793G>A;refseq.codingCoordStr_2=c.*157G>A;refseq.codonCoord_1=931;refseq.end_1=146796833;refseq.end_2=146796833;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3263;refseq.mrnaCoord_2=3348;refseq.name2_1=GRM1;refseq.name2_2=GRM1;refseq.name_1=NM_000838;refseq.name_2=NM_001114329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.K931K;refseq.referenceAA_1=Lys;refseq.referenceCodon_1=AAG;refseq.spliceDist_1=133;refseq.spliceDist_2=133;refseq.start_1=146796833;refseq.start_2=146796833;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantCodon_1=AAA;set=Intersection GT 1/0 chr6 146797017 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=3.75;MQ=98.53;MQ0=0;OQ=271.12;QD=7.75;RankSumP=0.302212;SB=-156.68;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2977T>C;refseq.codingCoordStr_2=c.*341T>C;refseq.codonCoord_1=993;refseq.end_1=146797017;refseq.end_2=146797017;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3447;refseq.mrnaCoord_2=3532;refseq.name2_1=GRM1;refseq.name2_2=GRM1;refseq.name_1=NM_000838;refseq.name_2=NM_001114329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.S993P;refseq.referenceAA_1=Ser;refseq.referenceCodon_1=TCC;refseq.spliceDist_1=317;refseq.spliceDist_2=317;refseq.start_1=146797017;refseq.start_2=146797017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCC;set=Intersection GT 1/0 chr6 146797208 . T G 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=97.25;MQ0=0;OQ=134.40;QD=5.38;RankSumP=0.683833;SB=5.03;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3168T>G;refseq.codingCoordStr_2=c.*532T>G;refseq.codonCoord_1=1056;refseq.end_1=146797208;refseq.end_2=146797208;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3638;refseq.mrnaCoord_2=3723;refseq.name2_1=GRM1;refseq.name2_2=GRM1;refseq.name_1=NM_000838;refseq.name_2=NM_001114329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.G1056G;refseq.referenceAA_1=Gly;refseq.referenceCodon_1=GGT;refseq.spliceDist_1=508;refseq.spliceDist_2=508;refseq.start_1=146797208;refseq.start_2=146797208;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGG;set=Intersection GT 1/0 chr6 146797253 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=96.62;MQ0=0;OQ=241.03;QD=9.27;RankSumP=0.0595607;SB=-3.98;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3213T>G;refseq.codingCoordStr_2=c.*577T>G;refseq.codonCoord_1=1071;refseq.end_1=146797253;refseq.end_2=146797253;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3683;refseq.mrnaCoord_2=3768;refseq.name2_1=GRM1;refseq.name2_2=GRM1;refseq.name_1=NM_000838;refseq.name_2=NM_001114329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P1071P;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCT;refseq.spliceDist_1=553;refseq.spliceDist_2=553;refseq.start_1=146797253;refseq.start_2=146797253;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCG;set=Intersection GT 1/0 chr6 146797535 . C A 275.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.48;MQ0=0;OQ=3137.48;QD=15.01;RankSumP=1.17325e-05;SB=-1271.41;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3495C>A;refseq.codingCoordStr_2=c.*859C>A;refseq.codonCoord_1=1165;refseq.end_1=146797535;refseq.end_2=146797535;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3965;refseq.mrnaCoord_2=4050;refseq.name2_1=GRM1;refseq.name2_2=GRM1;refseq.name_1=NM_000838;refseq.name_2=NM_001114329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P1165P;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCC;refseq.spliceDist_1=835;refseq.spliceDist_2=835;refseq.start_1=146797535;refseq.start_2=146797535;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCA;set=filterInsoap-gatk GT 1/0 chr6 147677106 . A G 421.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.74;MQ0=0;OQ=3140.56;QD=41.32;RankSumP=1.00000;SB=-1463.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1307A>G;refseq.codingCoordStr_2=c.1307A>G;refseq.codonCoord_1=436;refseq.codonCoord_2=436;refseq.end_1=147677106;refseq.end_2=147677106;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1468;refseq.mrnaCoord_2=1468;refseq.name2_1=STXBP5;refseq.name2_2=STXBP5;refseq.name_1=NM_001127715;refseq.name_2=NM_139244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N436S;refseq.proteinCoordStr_2=p.N436S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=147677106;refseq.start_2=147677106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr6 147722052 . A G 191.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=11.17;MQ=98.99;MQ0=0;OQ=18031.59;QD=41.45;RankSumP=1.00000;SB=-8359.65;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.2445A>G;refseq.codingCoordStr_2=c.2337A>G;refseq.codonCoord_1=815;refseq.codonCoord_2=779;refseq.end_1=147722052;refseq.end_2=147722052;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2606;refseq.mrnaCoord_2=2498;refseq.name2_1=STXBP5;refseq.name2_2=STXBP5;refseq.name_1=NM_001127715;refseq.name_2=NM_139244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L815L;refseq.proteinCoordStr_2=p.L779L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.start_1=147722052;refseq.start_2=147722052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr6 147871766 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=150;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=98.33;MQ0=0;OQ=2610.86;QD=17.41;RankSumP=0.452237;SB=-498.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.9C>T;refseq.codonCoord=3;refseq.end=147871766;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11;refseq.name=NM_001030060;refseq.name2=SAMD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=11;refseq.start=147871766;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr6 148906950 . A G 257.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1606.38;QD=34.18;RankSumP=1.00000;SB=-498.20;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2651A>G;refseq.codonCoord=884;refseq.end=148906950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3126;refseq.name=NM_015278;refseq.name2=SASH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q884R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=442;refseq.start=148906950;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr6 149327250 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.539A>C;refseq.codonCoord=180;refseq.end=149327250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_005715;refseq.name2=UST;refseq.positionType=CDS;refseq.proteinCoordStr=p.D180A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=12;refseq.start=149327250;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 149436926 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1202A>G;refseq.codonCoord=401;refseq.end=149436926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_005715;refseq.name2=UST;refseq.positionType=CDS;refseq.proteinCoordStr=p.E401G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=265;refseq.start=149436926;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr6 149763383 . G A 238.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=7.32;MQ=97.66;MQ0=0;OQ=5323.48;QD=19.94;RankSumP=0.335891;SB=-2249.95;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.163G>A;refseq.codonCoord_2=55;refseq.end_1=149772395;refseq.end_2=149763383;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=196;refseq.name2_1=TAB2;refseq.name2_2=SUMO4;refseq.name_1=NM_015093;refseq.name_2=NM_001002255;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V55M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=196;refseq.start_1=149762024;refseq.start_2=149763383;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr6 149995674 . C T 216.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=8.12;MQ=98.75;MQ0=0;OQ=6865.24;QD=42.12;RankSumP=1.00000;SB=-2287.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.234G>A;refseq.codonCoord=78;refseq.end=149995674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_007044;refseq.name2=KATNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L78L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=72;refseq.start=149995674;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr6 150024909 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=2;HaplotypeScore=6.38;MQ=98.78;MQ0=0;OQ=17096.46;QD=43.06;RankSumP=1.00000;SB=-7842.18;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3042C>T;refseq.codonCoord=1014;refseq.end=150024909;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3590;refseq.name=NM_004690;refseq.name2=LATS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1014D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=159;refseq.start=150024909;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 150046472 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=468;Dels=0.00;HRun=1;HaplotypeScore=41.24;MQ=98.57;MQ0=0;OQ=15141.00;QD=32.35;RankSumP=1.00000;SB=-6865.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1446T>C;refseq.codonCoord=482;refseq.end=150046472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_004690;refseq.name2=LATS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S482S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-565;refseq.start=150046472;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr6 150064902 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.54T>C;refseq.codonCoord=18;refseq.end=150064902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_004690;refseq.name2=LATS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F18F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=194;refseq.start=150064902;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr6 150112752 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.196G>C;refseq.codonCoord=66;refseq.end=150112752;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_005389;refseq.name2=PCMT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A66P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-34;refseq.start=150112752;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 150156438 . G A 297.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=2.88;MQ=98.85;MQ0=0;OQ=8707.04;QD=43.75;RankSumP=1.00000;SB=-4356.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.532G>A;refseq.codonCoord=178;refseq.end=150156438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_005389;refseq.name2=PCMT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V178I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-61;refseq.start=150156438;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr6 150199038 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=323;Dels=0.00;HRun=1;HaplotypeScore=13.85;MQ=98.56;MQ0=0;OQ=6399.69;QD=19.81;RankSumP=0.233144;SB=-2655.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1128C>T;refseq.codonCoord=376;refseq.end=150199038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1452;refseq.name=NM_032832;refseq.name2=LRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D376D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=89;refseq.start=150199038;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr6 150205952 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.773T>G;refseq.codonCoord=258;refseq.end=150205952;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_032832;refseq.name2=LRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V258G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=150205952;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 150226575 . G C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=95.11;MQ0=0;OQ=335.84;QD=37.32;RankSumP=1.00000;SB=-100.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.275C>G;refseq.codonCoord=92;refseq.end=150226575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_032832;refseq.name2=LRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P92R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-339;refseq.start=150226575;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr6 150251410 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=98.32;MQ0=0;OQ=19066.02;QD=47.67;RankSumP=1.00000;SB=-7997.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.709G>C;refseq.codonCoord=237;refseq.end=150251410;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V237L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=87;refseq.start=150251410;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr6 150252374 . G A 240.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=453;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=98.74;MQ0=0;OQ=18482.90;QD=40.80;RankSumP=1.00000;SB=-6779.93;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.425C>T;refseq.codonCoord=142;refseq.end=150252374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.T142I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=79;refseq.start=150252374;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 150252378 . C T 227.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=12.81;MQ=98.75;MQ0=0;OQ=17895.00;QD=40.76;RankSumP=1.00000;SB=-6050.06;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.421G>A;refseq.codonCoord=141;refseq.end=150252378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A141T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=75;refseq.start=150252378;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr6 150252416 . C T 290.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.72;MQ0=0;OQ=6463.98;QD=21.26;RankSumP=0.458634;SB=-1195.02;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.383G>A;refseq.codonCoord=128;refseq.end=150252416;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=37;refseq.start=150252416;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr6 150252793 . T C 233.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.84;MQ0=0;OQ=5726.73;QD=22.82;RankSumP=0.330464;SB=-1248.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.267A>G;refseq.codonCoord=89;refseq.end=150252793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.E89E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-80;refseq.start=150252793;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr6 150252816 . A T 357.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=2.50;MQ=98.65;MQ0=0;OQ=8461.29;QD=40.68;RankSumP=1.00000;SB=-2651.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.244T>A;refseq.codonCoord=82;refseq.end=150252816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y82N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-103;refseq.start=150252816;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 150253696 . C T 344.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=99.00;MQ0=0;OQ=5253.16;QD=19.67;RankSumP=0.214984;SB=-1328.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.35G>A;refseq.codonCoord=12;refseq.end=150253696;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=95;refseq.name=NM_139165;refseq.name2=RAET1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R12H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-51;refseq.start=150253696;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr6 150281023 . C T 163.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=98.62;MQ0=0;OQ=3870.80;QD=21.27;RankSumP=0.200062;SB=-1015.55;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.822G>A;refseq.codonCoord=274;refseq.end=150281023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_001001788;refseq.name2=RAET1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.R274R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-21;refseq.start=150281023;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr6 150282522 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1179;Dels=0.00;HRun=0;HaplotypeScore=220.06;MQ=28.79;MQ0=199;OQ=17286.47;QD=14.66;RankSumP=0.223901;SB=-6730.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.209C>G;refseq.codonCoord=70;refseq.end=150282522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_001001788;refseq.name2=RAET1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.T70R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=124;refseq.start=150282522;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 0/1 chr6 150304980 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=68;Dels=0.00;HRun=3;HaplotypeScore=11.87;MQ=94.05;MQ0=0;QD=0.60;RankSumP=0.0136079;SB=41.17;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.79C>G;refseq.codonCoord=27;refseq.end=150304980;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_025217;refseq.name2=ULBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R27G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=150304980;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 1/0 chr6 150308271 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.561019;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.219T>C;refseq.codonCoord=73;refseq.end=150308271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_025217;refseq.name2=ULBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P73P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-131;refseq.start=150308271;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr6 150308369 . G T 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.539213;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.317G>T;refseq.codonCoord=106;refseq.end=150308369;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_025217;refseq.name2=ULBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R106L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-33;refseq.start=150308369;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr6 150308393 . C T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.352733;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.341C>T;refseq.codonCoord=114;refseq.end=150308393;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_025217;refseq.name2=ULBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T114I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=150308393;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr6 150309220 . A C 164.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=659;Dels=0.00;HRun=1;HaplotypeScore=6.38;MQ=52.98;MQ0=415;OQ=9493.13;QD=14.41;RankSumP=0.249672;SB=-1226.23;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.369A>C;refseq.codonCoord=123;refseq.end=150309220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_025217;refseq.name2=ULBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A123A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=20;refseq.start=150309220;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr6 150383925 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=627;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=67.99;MQ0=67;OQ=10921.61;QD=17.42;RankSumP=0.473770;SB=-4601.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.440C>T;refseq.codonCoord=147;refseq.end=150383925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_130900;refseq.name2=RAET1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=91;refseq.start=150383925;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr6 150383996 . T G 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.226317;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.369A>C;refseq.codonCoord=123;refseq.end=150383996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_130900;refseq.name2=RAET1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A123A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=20;refseq.start=150383996;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr6 150384841 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.477343;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.317T>G;refseq.codonCoord=106;refseq.end=150384841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_130900;refseq.name2=RAET1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L106R;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-33;refseq.start=150384841;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 0/1 chr6 150384904 . A G 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=11.29;MQ0=247;OQ=639.31;QD=2.20;RankSumP=1.00000;SB=-50.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.254T>C;refseq.codonCoord=85;refseq.end=150384904;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_130900;refseq.name2=RAET1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.M85T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-96;refseq.start=150384904;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 1/1 chr6 150388225 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=132;Dels=0.00;HRun=2;HaplotypeScore=10.59;MQ=97.23;MQ0=0;OQ=1409.36;QD=10.68;RankSumP=0.0214253;SB=-565.08;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.76A>G;refseq.codonCoord=26;refseq.end=150388225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=137;refseq.name=NM_130900;refseq.name2=RAET1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R26G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=150388225;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr6 150752374 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.370+2;refseq.codingCoordStr_2=c.370+2;refseq.codingCoordStr_3=c.370+2;refseq.end_1=150752374;refseq.end_2=150752374;refseq.end_3=150752374;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=IYD;refseq.name2_2=IYD;refseq.name2_3=IYD;refseq.name_1=NM_001164694;refseq.name_2=NM_001164695;refseq.name_3=NM_203395;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=150752374;refseq.start_2=150752374;refseq.start_3=150752374;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr6 151163608 . G A 308.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=6.14;MQ=98.94;MQ0=0;OQ=8422.38;QD=40.11;RankSumP=1.00000;SB=-2587.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.690G>A;refseq.codonCoord=230;refseq.end=151163608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_001029884;refseq.name2=PLEKHG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E230E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=61;refseq.start=151163608;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr6 151193950 . A G 348.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=6.08;MQ=98.95;MQ0=0;OQ=4672.55;QD=20.40;RankSumP=0.0117838;SB=-1534.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2010A>G;refseq.codonCoord=670;refseq.end=151193950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2322;refseq.name=NM_001029884;refseq.name2=PLEKHG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K670K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=540;refseq.start=151193950;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr6 151194349 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=438;Dels=0.00;HRun=3;HaplotypeScore=18.11;MQ=98.96;MQ0=0;OQ=17750.06;QD=40.53;RankSumP=1.00000;SB=-7361.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2409T>C;refseq.codonCoord=803;refseq.end=151194349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2721;refseq.name=NM_001029884;refseq.name2=PLEKHG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T803T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-686;refseq.start=151194349;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr6 151318902 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr6;refseq.codingCoordStr=c.1803+2;refseq.end=151318902;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_015440;refseq.name2=MTHFD1L;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=151318902;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr6 151376619 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2277T>G;refseq.codonCoord=759;refseq.end=151376619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2545;refseq.name=NM_015440;refseq.name2=MTHFD1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G759G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=12;refseq.start=151376619;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 151668727 . A G 229.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1987.09;QD=38.21;RankSumP=1.00000;SB=-158.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.315A>G;refseq.codonCoord=105;refseq.end=151668727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_005100;refseq.name2=AKAP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=151668727;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 151711568 . A G 336.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=3066.22;QD=36.50;RankSumP=1.00000;SB=-539.88;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.349A>G;refseq.codingCoordStr_2=c.55A>G;refseq.codonCoord_1=117;refseq.codonCoord_2=19;refseq.end_1=151711568;refseq.end_2=151711568;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=589;refseq.mrnaCoord_2=385;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K117E;refseq.proteinCoordStr_2=p.K19E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=151711568;refseq.start_2=151711568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr6 151711865 . A C 130.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1054.36;QD=34.01;RankSumP=1.00000;SB=-367.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.646A>C;refseq.codingCoordStr_2=c.352A>C;refseq.codonCoord_1=216;refseq.codonCoord_2=118;refseq.end_1=151711865;refseq.end_2=151711865;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=886;refseq.mrnaCoord_2=682;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K216Q;refseq.proteinCoordStr_2=p.K118Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=327;refseq.spliceDist_2=327;refseq.start_1=151711865;refseq.start_2=151711865;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr6 151712590 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=6.86;MQ=98.48;MQ0=0;OQ=4877.13;QD=28.36;RankSumP=1.00000;SB=-2307.57;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1371T>C;refseq.codingCoordStr_2=c.1077T>C;refseq.codonCoord_1=457;refseq.codonCoord_2=359;refseq.end_1=151712590;refseq.end_2=151712590;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1611;refseq.mrnaCoord_2=1407;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A457A;refseq.proteinCoordStr_2=p.A359A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=1052;refseq.spliceDist_2=1052;refseq.start_1=151712590;refseq.start_2=151712590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr6 151715809 . T G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0460687;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.4590T>G;refseq.codingCoordStr_2=c.4296T>G;refseq.codonCoord_1=1530;refseq.codonCoord_2=1432;refseq.end_1=151715809;refseq.end_2=151715809;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4830;refseq.mrnaCoord_2=4626;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1530M;refseq.proteinCoordStr_2=p.I1432M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-772;refseq.spliceDist_2=-772;refseq.start_1=151715809;refseq.start_2=151715809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/0 chr6 151715815 . T G 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.172980;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.4596T>G;refseq.codingCoordStr_2=c.4302T>G;refseq.codonCoord_1=1532;refseq.codonCoord_2=1434;refseq.end_1=151715815;refseq.end_2=151715815;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4836;refseq.mrnaCoord_2=4632;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1532E;refseq.proteinCoordStr_2=p.D1434E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-766;refseq.spliceDist_2=-766;refseq.start_1=151715815;refseq.start_2=151715815;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 1/0 chr6 151716019 . A C 84.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=3466.22;QD=38.95;RankSumP=1.00000;SB=-1361.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.4800A>C;refseq.codingCoordStr_2=c.4506A>C;refseq.codonCoord_1=1600;refseq.codonCoord_2=1502;refseq.end_1=151716019;refseq.end_2=151716019;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5040;refseq.mrnaCoord_2=4836;refseq.name2_1=AKAP12;refseq.name2_2=AKAP12;refseq.name_1=NM_005100;refseq.name_2=NM_144497;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1600D;refseq.proteinCoordStr_2=p.E1502D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-562;refseq.spliceDist_2=-562;refseq.start_1=151716019;refseq.start_2=151716019;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 151728598 . C T 251.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=5.84;MQ=98.55;MQ0=0;OQ=9748.51;QD=44.11;RankSumP=1.00000;SB=-4369.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1296G>A;refseq.codonCoord=432;refseq.end=151728598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1431;refseq.name=NM_020861;refseq.name2=ZBTB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E432E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1123;refseq.start=151728598;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr6 151856972 . A C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.512987;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.16A>C;refseq.codonCoord=6;refseq.end=151856972;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=105;refseq.name=NM_025059;refseq.name2=C6orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.T6P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-42;refseq.start=151856972;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 151901007 . A G 395.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.87;MQ0=0;OQ=8347.84;QD=41.74;RankSumP=1.00000;SB=-3630.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.321A>G;refseq.codonCoord=107;refseq.end=151901007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_025059;refseq.name2=C6orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.E107E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-123;refseq.start=151901007;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr6 151936198 . T C 257.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=12201.36;QD=41.79;RankSumP=1.00000;SB=-4884.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.971T>C;refseq.codonCoord=324;refseq.end=151936198;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_025059;refseq.name2=C6orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.F324S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-122;refseq.start=151936198;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr6 151936260 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=4.47;MQ=98.51;MQ0=0;OQ=2494.16;QD=12.05;RankSumP=0.223926;SB=-1219.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1033G>A;refseq.codonCoord=345;refseq.end=151936260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_025059;refseq.name2=C6orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.E345K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-60;refseq.start=151936260;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr6 152170770 . T C 143.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=98.55;MQ0=0;OQ=2261.68;QD=13.30;RankSumP=0.107278;SB=-913.00;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.30T>C;refseq.codingCoordStr_2=c.30T>C;refseq.codingCoordStr_3=c.30T>C;refseq.codingCoordStr_4=c.30T>C;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.codonCoord_4=10;refseq.end_1=152170770;refseq.end_2=152170770;refseq.end_3=152170770;refseq.end_4=152170770;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=264;refseq.mrnaCoord_2=291;refseq.mrnaCoord_3=248;refseq.mrnaCoord_4=400;refseq.name2_1=ESR1;refseq.name2_2=ESR1;refseq.name2_3=ESR1;refseq.name2_4=ESR1;refseq.name_1=NM_000125;refseq.name_2=NM_001122740;refseq.name_3=NM_001122741;refseq.name_4=NM_001122742;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S10S;refseq.proteinCoordStr_2=p.S10S;refseq.proteinCoordStr_3=p.S10S;refseq.proteinCoordStr_4=p.S10S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=264;refseq.spliceDist_2=100;refseq.spliceDist_3=100;refseq.spliceDist_4=100;refseq.start_1=152170770;refseq.start_2=152170770;refseq.start_3=152170770;refseq.start_4=152170770;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=Intersection GT 1/0 chr6 152243568 . T C 424.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=3.40;MQ=98.52;MQ0=0;OQ=4970.59;QD=39.14;RankSumP=1.00000;SB=-1941.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.729T>C;refseq.codingCoordStr_2=c.729T>C;refseq.codingCoordStr_3=c.729T>C;refseq.codingCoordStr_4=c.729T>C;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.codonCoord_3=243;refseq.codonCoord_4=243;refseq.end_1=152243568;refseq.end_2=152243568;refseq.end_3=152243568;refseq.end_4=152243568;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=963;refseq.mrnaCoord_2=990;refseq.mrnaCoord_3=947;refseq.mrnaCoord_4=1099;refseq.name2_1=ESR1;refseq.name2_2=ESR1;refseq.name2_3=ESR1;refseq.name2_4=ESR1;refseq.name_1=NM_000125;refseq.name_2=NM_001122740;refseq.name_3=NM_001122741;refseq.name_4=NM_001122742;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R243R;refseq.proteinCoordStr_2=p.R243R;refseq.proteinCoordStr_3=p.R243R;refseq.proteinCoordStr_4=p.R243R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.spliceDist_4=-32;refseq.start_1=152243568;refseq.start_2=152243568;refseq.start_3=152243568;refseq.start_4=152243568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/1 chr6 152307215 . G C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=5;HaplotypeScore=3.25;MQ=99.00;MQ0=0;OQ=15366.95;QD=47.72;RankSumP=1.00000;SB=-6871.43;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.975G>C;refseq.codingCoordStr_2=c.975G>C;refseq.codingCoordStr_3=c.975G>C;refseq.codingCoordStr_4=c.975G>C;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.codonCoord_3=325;refseq.codonCoord_4=325;refseq.end_1=152307215;refseq.end_2=152307215;refseq.end_3=152307215;refseq.end_4=152307215;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1209;refseq.mrnaCoord_2=1236;refseq.mrnaCoord_3=1193;refseq.mrnaCoord_4=1345;refseq.name2_1=ESR1;refseq.name2_2=ESR1;refseq.name2_3=ESR1;refseq.name2_4=ESR1;refseq.name_1=NM_000125;refseq.name_2=NM_001122740;refseq.name_3=NM_001122741;refseq.name_4=NM_001122742;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P325P;refseq.proteinCoordStr_2=p.P325P;refseq.proteinCoordStr_3=p.P325P;refseq.proteinCoordStr_4=p.P325P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-122;refseq.spliceDist_2=-122;refseq.spliceDist_3=-122;refseq.spliceDist_4=-122;refseq.start_1=152307215;refseq.start_2=152307215;refseq.start_3=152307215;refseq.start_4=152307215;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=soap-filterIngatk GT 1/1 chr6 152461788 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.86;MQ=98.91;MQ0=0;OQ=1547.37;QD=11.29;RankSumP=0.0282080;SB=-435.28;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.1782G>A;refseq.codingCoordStr_2=c.1782G>A;refseq.codingCoordStr_3=c.1782G>A;refseq.codingCoordStr_4=c.1782G>A;refseq.codonCoord_1=594;refseq.codonCoord_2=594;refseq.codonCoord_3=594;refseq.codonCoord_4=594;refseq.end_1=152461788;refseq.end_2=152461788;refseq.end_3=152461788;refseq.end_4=152461788;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2016;refseq.mrnaCoord_2=2043;refseq.mrnaCoord_3=2000;refseq.mrnaCoord_4=2152;refseq.name2_1=ESR1;refseq.name2_2=ESR1;refseq.name2_3=ESR1;refseq.name2_4=ESR1;refseq.name_1=NM_000125;refseq.name_2=NM_001122740;refseq.name_3=NM_001122741;refseq.name_4=NM_001122742;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T594T;refseq.proteinCoordStr_2=p.T594T;refseq.proteinCoordStr_3=p.T594T;refseq.proteinCoordStr_4=p.T594T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=229;refseq.spliceDist_2=229;refseq.spliceDist_3=229;refseq.spliceDist_4=229;refseq.start_1=152461788;refseq.start_2=152461788;refseq.start_3=152461788;refseq.start_4=152461788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr6 152485437 . G T 121.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.25;MQ0=0;OQ=598.86;QD=13.31;RankSumP=0.236505;SB=-204.54;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.9793C>A;refseq.codingCoordStr_2=c.26077C>A;refseq.codingCoordStr_3=c.2776C>A;refseq.codingCoordStr_4=c.26221C>A;refseq.codonCoord_1=3265;refseq.codonCoord_2=8693;refseq.codonCoord_3=926;refseq.codonCoord_4=8741;refseq.end_1=152485437;refseq.end_2=152485437;refseq.end_3=152485437;refseq.end_4=152485437;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=9913;refseq.mrnaCoord_2=26514;refseq.mrnaCoord_3=2972;refseq.mrnaCoord_4=26823;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L3265M;refseq.proteinCoordStr_2=p.L8693M;refseq.proteinCoordStr_3=p.L926M;refseq.proteinCoordStr_4=p.L8741M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.spliceDist_4=68;refseq.start_1=152485437;refseq.start_2=152485437;refseq.start_3=152485437;refseq.start_4=152485437;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 0/1 chr6 152494984 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=566;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.81;MQ0=0;OQ=11834.79;QD=20.91;RankSumP=0.375371;SB=-4590.40;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.9632C>T;refseq.codingCoordStr_2=c.25916C>T;refseq.codingCoordStr_3=c.2615C>T;refseq.codingCoordStr_4=c.26060C>T;refseq.codonCoord_1=3211;refseq.codonCoord_2=8639;refseq.codonCoord_3=872;refseq.codonCoord_4=8687;refseq.end_1=152494984;refseq.end_2=152494984;refseq.end_3=152494984;refseq.end_4=152494984;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=9752;refseq.mrnaCoord_2=26353;refseq.mrnaCoord_3=2811;refseq.mrnaCoord_4=26662;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T3211I;refseq.proteinCoordStr_2=p.T8639I;refseq.proteinCoordStr_3=p.T872I;refseq.proteinCoordStr_4=p.T8687I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=152494984;refseq.start_2=152494984;refseq.start_3=152494984;refseq.start_4=152494984;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/0 chr6 152506532 . A G 289.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.92;MQ0=0;OQ=7079.88;QD=18.83;RankSumP=0.321825;SB=-2744.48;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.8610T>C;refseq.codingCoordStr_2=c.24894T>C;refseq.codingCoordStr_3=c.1593T>C;refseq.codingCoordStr_4=c.25038T>C;refseq.codonCoord_1=2870;refseq.codonCoord_2=8298;refseq.codonCoord_3=531;refseq.codonCoord_4=8346;refseq.end_1=152506532;refseq.end_2=152506532;refseq.end_3=152506532;refseq.end_4=152506532;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=8730;refseq.mrnaCoord_2=25331;refseq.mrnaCoord_3=1789;refseq.mrnaCoord_4=25640;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R2870R;refseq.proteinCoordStr_2=p.R8298R;refseq.proteinCoordStr_3=p.R531R;refseq.proteinCoordStr_4=p.R8346R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.spliceDist_4=62;refseq.start_1=152506532;refseq.start_2=152506532;refseq.start_3=152506532;refseq.start_4=152506532;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 0/1 chr6 152512312 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.8207G>C;refseq.codingCoordStr_2=c.24422G>C;refseq.codingCoordStr_3=c.1121G>C;refseq.codingCoordStr_4=c.24635G>C;refseq.codonCoord_1=2736;refseq.codonCoord_2=8141;refseq.codonCoord_3=374;refseq.codonCoord_4=8212;refseq.end_1=152512312;refseq.end_2=152512312;refseq.end_3=152512312;refseq.end_4=152512312;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=8327;refseq.mrnaCoord_2=24859;refseq.mrnaCoord_3=1317;refseq.mrnaCoord_4=25237;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R2736P;refseq.proteinCoordStr_2=p.R8141P;refseq.proteinCoordStr_3=p.R374P;refseq.proteinCoordStr_4=p.R8212P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.start_1=152512312;refseq.start_2=152512312;refseq.start_3=152512312;refseq.start_4=152512312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr6 152527054 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.codingCoordStr_1=c.7299C>A;refseq.codingCoordStr_2=c.23514C>A;refseq.codingCoordStr_3=c.213C>A;refseq.codingCoordStr_4=c.23727C>A;refseq.codonCoord_1=2433;refseq.codonCoord_2=7838;refseq.codonCoord_3=71;refseq.codonCoord_4=7909;refseq.end_1=152527054;refseq.end_2=152527054;refseq.end_3=152527054;refseq.end_4=152527054;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=7419;refseq.mrnaCoord_2=23951;refseq.mrnaCoord_3=409;refseq.mrnaCoord_4=24329;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A2433A;refseq.proteinCoordStr_2=p.A7838A;refseq.proteinCoordStr_3=p.A71A;refseq.proteinCoordStr_4=p.A7909A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.spliceDist_4=-64;refseq.start_1=152527054;refseq.start_2=152527054;refseq.start_3=152527054;refseq.start_4=152527054;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=FilteredInAll GT 0/1 chr6 152530731 . T C 364.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=98.96;MQ0=0;OQ=4517.54;QD=18.29;RankSumP=0.268104;SB=-1873.33;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.end_1=152539211;refseq.end_2=152539211;refseq.end_3=152539211;refseq.end_4=152539211;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name2_4=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_133650;refseq.name_4=NM_182961;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.start_1=152527164;refseq.start_2=152527164;refseq.start_3=152527164;refseq.start_4=152527164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=Intersection GT 1/0 chr6 152570953 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=320;Dels=0.00;HRun=1;HaplotypeScore=34.22;MQ=98.58;MQ0=0;OQ=3992.52;QD=12.48;RankSumP=0.000201953;SB=-1162.23;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.6243C>T;refseq.codingCoordStr_2=c.22458C>T;refseq.codingCoordStr_3=c.22671C>T;refseq.codonCoord_1=2081;refseq.codonCoord_2=7486;refseq.codonCoord_3=7557;refseq.end_1=152570953;refseq.end_2=152570953;refseq.end_3=152570953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6363;refseq.mrnaCoord_2=22895;refseq.mrnaCoord_3=23273;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_182961;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I2081I;refseq.proteinCoordStr_2=p.I7486I;refseq.proteinCoordStr_3=p.I7557I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.start_1=152570953;refseq.start_2=152570953;refseq.start_3=152570953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=filterInsoap-gatk GT 1/0 chr6 152581971 . A C 297.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=6.85;MQ=98.58;MQ0=0;OQ=14700.71;QD=39.41;RankSumP=1.00000;SB=-6235.08;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.5476T>G;refseq.codingCoordStr_2=c.21691T>G;refseq.codingCoordStr_3=c.21904T>G;refseq.codonCoord_1=1826;refseq.codonCoord_2=7231;refseq.codonCoord_3=7302;refseq.end_1=152581971;refseq.end_2=152581971;refseq.end_3=152581971;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5596;refseq.mrnaCoord_2=22128;refseq.mrnaCoord_3=22506;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_182961;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F1826V;refseq.proteinCoordStr_2=p.F7231V;refseq.proteinCoordStr_3=p.F7302V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=152581971;refseq.start_2=152581971;refseq.start_3=152581971;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr6 152583729 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.5374G>C;refseq.codingCoordStr_2=c.21589G>C;refseq.codingCoordStr_3=c.21802G>C;refseq.codonCoord_1=1792;refseq.codonCoord_2=7197;refseq.codonCoord_3=7268;refseq.end_1=152583729;refseq.end_2=152583729;refseq.end_3=152583729;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5494;refseq.mrnaCoord_2=22026;refseq.mrnaCoord_3=22404;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_182961;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1792P;refseq.proteinCoordStr_2=p.A7197P;refseq.proteinCoordStr_3=p.A7268P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=152583729;refseq.start_2=152583729;refseq.start_3=152583729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr6 152663523 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1200A>C;refseq.codingCoordStr_2=c.17415A>C;refseq.codingCoordStr_3=c.17628A>C;refseq.codonCoord_1=400;refseq.codonCoord_2=5805;refseq.codonCoord_3=5876;refseq.end_1=152663523;refseq.end_2=152663523;refseq.end_3=152663523;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=17852;refseq.mrnaCoord_3=18230;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_182961;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P400P;refseq.proteinCoordStr_2=p.P5805P;refseq.proteinCoordStr_3=p.P5876P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.start_1=152663523;refseq.start_2=152663523;refseq.start_3=152663523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr6 152673222 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.591+2;refseq.codingCoordStr_2=c.16806+2;refseq.codingCoordStr_3=c.17019+2;refseq.end_1=152673222;refseq.end_2=152673222;refseq.end_3=152673222;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name2_3=SYNE1;refseq.name_1=NM_015293;refseq.name_2=NM_033071;refseq.name_3=NM_182961;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=152673222;refseq.start_2=152673222;refseq.start_3=152673222;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr6 152689374 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=175;Dels=0.00;HRun=2;HaplotypeScore=5.50;MQ=98.98;MQ0=0;OQ=1840.17;QD=10.52;RankSumP=0.156313;SB=-935.02;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.14830T>A;refseq.codingCoordStr_2=c.15043T>A;refseq.codonCoord_1=4944;refseq.codonCoord_2=5015;refseq.end_1=152689374;refseq.end_2=152689374;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=15267;refseq.mrnaCoord_2=15645;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L4944M;refseq.proteinCoordStr_2=p.L5015M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=152689374;refseq.start_2=152689374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr6 152693727 . A T 196.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=463;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=98.66;MQ0=0;OQ=9053.23;QD=19.55;RankSumP=0.493564;SB=-3529.48;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.13573T>A;refseq.codingCoordStr_2=c.13786T>A;refseq.codonCoord_1=4525;refseq.codonCoord_2=4596;refseq.end_1=152693727;refseq.end_2=152693727;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=14010;refseq.mrnaCoord_2=14388;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S4525T;refseq.proteinCoordStr_2=p.S4596T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=992;refseq.spliceDist_2=992;refseq.start_1=152693727;refseq.start_2=152693727;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr6 152699835 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=931.85;QD=15.53;RankSumP=0.500017;SB=-224.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.12149A>G;refseq.codingCoordStr_2=c.12362A>G;refseq.codonCoord_1=4050;refseq.codonCoord_2=4121;refseq.end_1=152699835;refseq.end_2=152699835;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12586;refseq.mrnaCoord_2=12964;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K4050R;refseq.proteinCoordStr_2=p.K4121R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=152699835;refseq.start_2=152699835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr6 152706923 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.11998G>A;refseq.codingCoordStr_2=c.12211G>A;refseq.codonCoord_1=4000;refseq.codonCoord_2=4071;refseq.end_1=152706923;refseq.end_2=152706923;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12435;refseq.mrnaCoord_2=12813;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E4000K;refseq.proteinCoordStr_2=p.E4071K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=152706923;refseq.start_2=152706923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr6 152706954 . C A 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=39.36;MQ=97.76;MQ0=0;OQ=8339.57;QD=27.61;RankSumP=1.00000;SB=-4129.54;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.11967G>T;refseq.codingCoordStr_2=c.12180G>T;refseq.codonCoord_1=3989;refseq.codonCoord_2=4060;refseq.end_1=152706954;refseq.end_2=152706954;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12404;refseq.mrnaCoord_2=12782;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E3989D;refseq.proteinCoordStr_2=p.E4060D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=152706954;refseq.start_2=152706954;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr6 152717547 . A G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=723;Dels=0.00;HRun=3;HaplotypeScore=4.47;MQ=98.68;MQ0=0;OQ=30095.52;QD=41.63;RankSumP=1.00000;SB=-13140.36;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.10881+6;refseq.codingCoordStr_2=c.10866T>C;refseq.codonCoord_2=3622;refseq.end_1=152717547;refseq.end_2=152717547;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=11468;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S3622S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=6;refseq.spliceDist_2=-61;refseq.spliceInfo_1=splice-donor_6;refseq.start_1=152717547;refseq.start_2=152717547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr6 152725106 . G T 275.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=8599.69;QD=38.56;RankSumP=1.00000;SB=-4234.95;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.10212C>A;refseq.codingCoordStr_2=c.10191C>A;refseq.codonCoord_1=3404;refseq.codonCoord_2=3397;refseq.end_1=152725106;refseq.end_2=152725106;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=10649;refseq.mrnaCoord_2=10793;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3404G;refseq.proteinCoordStr_2=p.G3397G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=152725106;refseq.start_2=152725106;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr6 152735877 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=0;HaplotypeScore=27.68;MQ=98.80;MQ0=0;OQ=25047.22;QD=39.44;RankSumP=1.00000;SB=-10818.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.9516A>G;refseq.codingCoordStr_2=c.9495A>G;refseq.codonCoord_1=3172;refseq.codonCoord_2=3165;refseq.end_1=152735877;refseq.end_2=152735877;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9953;refseq.mrnaCoord_2=10097;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E3172E;refseq.proteinCoordStr_2=p.E3165E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=152735877;refseq.start_2=152735877;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr6 152804942 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3990C>G;refseq.codingCoordStr_2=c.3969C>G;refseq.codonCoord_1=1330;refseq.codonCoord_2=1323;refseq.end_1=152804942;refseq.end_2=152804942;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4427;refseq.mrnaCoord_2=4571;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1330G;refseq.proteinCoordStr_2=p.G1323G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=152804942;refseq.start_2=152804942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr6 152813957 . A G 289.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=524;Dels=0.00;HRun=0;HaplotypeScore=14.39;MQ=98.78;MQ0=0;OQ=10691.35;QD=20.40;RankSumP=0.205564;SB=-3202.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.3125T>C;refseq.codingCoordStr_2=c.3104T>C;refseq.codonCoord_1=1042;refseq.codonCoord_2=1035;refseq.end_1=152813957;refseq.end_2=152813957;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3562;refseq.mrnaCoord_2=3706;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1042A;refseq.proteinCoordStr_2=p.V1035A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=152813957;refseq.start_2=152813957;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr6 152826314 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1865.98;QD=12.69;RankSumP=0.284975;SB=-281.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1985A>G;refseq.codingCoordStr_2=c.1964A>G;refseq.codonCoord_1=662;refseq.codonCoord_2=655;refseq.end_1=152826314;refseq.end_2=152826314;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2422;refseq.mrnaCoord_2=2566;refseq.name2_1=SYNE1;refseq.name2_2=SYNE1;refseq.name_1=NM_033071;refseq.name_2=NM_182961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q662R;refseq.proteinCoordStr_2=p.Q655R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=152826314;refseq.start_2=152826314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr6 153338234 . G C 354.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=6.50;MQ=98.80;MQ0=0;OQ=6647.62;QD=20.64;RankSumP=0.347613;SB=-2436.66;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.181C>G;refseq.codingCoordStr_2=c.319C>G;refseq.codonCoord_1=61;refseq.codonCoord_2=107;refseq.end_1=153338234;refseq.end_2=153338234;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=588;refseq.mrnaCoord_2=428;refseq.name2_1=FBXO5;refseq.name2_2=FBXO5;refseq.name_1=NM_001142522;refseq.name_2=NM_012177;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q61E;refseq.proteinCoordStr_2=p.Q107E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=216;refseq.spliceDist_2=216;refseq.start_1=153338234;refseq.start_2=153338234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr6 153352764 . C T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.271069;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.*149G>A;refseq.codingCoordStr_2=c.1102G>A;refseq.codonCoord_2=368;refseq.end_1=153352764;refseq.end_2=153352764;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1207;refseq.name2_1=MTRF1L;refseq.name2_2=MTRF1L;refseq.name_1=NM_001114184;refseq.name_2=NM_019041;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D368N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=160;refseq.spliceDist_2=160;refseq.start_1=153352764;refseq.start_2=153352764;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=soap GT 0/1 chr6 153357388 . C T 167.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=85.94;MQ0=9;OQ=2140.28;QD=16.99;RankSumP=0.226642;SB=-518.48;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.640G>A;refseq.codingCoordStr_2=c.640G>A;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=153357388;refseq.end_2=153357388;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=745;refseq.mrnaCoord_2=745;refseq.name2_1=MTRF1L;refseq.name2_2=MTRF1L;refseq.name_1=NM_001114184;refseq.name_2=NM_019041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V214I;refseq.proteinCoordStr_2=p.V214I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=153357388;refseq.start_2=153357388;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr6 153358019 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=65.51;MQ0=66;OQ=1029.43;QD=7.92;RankSumP=0.472937;SB=-344.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.468T>C;refseq.codingCoordStr_2=c.468T>C;refseq.codonCoord_1=156;refseq.codonCoord_2=156;refseq.end_1=153358019;refseq.end_2=153358019;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=573;refseq.mrnaCoord_2=573;refseq.name2_1=MTRF1L;refseq.name2_2=MTRF1L;refseq.name_1=NM_001114184;refseq.name_2=NM_019041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y156Y;refseq.proteinCoordStr_2=p.Y156Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=153358019;refseq.start_2=153358019;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr6 153365287 . C T 102.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=92.56;MQ0=3;OQ=2648.22;QD=13.11;RankSumP=0.0415905;SB=-1181.60;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.227G>A;refseq.codingCoordStr_2=c.227G>A;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=153365287;refseq.end_2=153365287;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=332;refseq.mrnaCoord_2=332;refseq.name2_1=MTRF1L;refseq.name2_2=MTRF1L;refseq.name_1=NM_001114184;refseq.name_2=NM_019041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R76Q;refseq.proteinCoordStr_2=p.R76Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=153365287;refseq.start_2=153365287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr6 153406793 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=96.25;MQ0=0;OQ=909.81;QD=10.58;RankSumP=0.136906;SB=-254.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.54T>G;refseq.codonCoord=18;refseq.end=153406793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_012419;refseq.name2=RGS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-66;refseq.start=153406793;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 153406811 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.36A>C;refseq.codonCoord=12;refseq.end=153406811;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_012419;refseq.name2=RGS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T12T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=61;refseq.start=153406811;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 154456139 . A T 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=933;Dels=0.00;HRun=0;HaplotypeScore=24.35;MQ=98.68;MQ0=0;OQ=36680.14;QD=39.31;RankSumP=1.00000;SB=-15478.38;SecondBestBaseQ=2;refseq.changesAA_12=true;refseq.chr_1=chr6;refseq.chr_10=chr6;refseq.chr_11=chr6;refseq.chr_12=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.chr_9=chr6;refseq.codingCoordStr_12=c.1206A>T;refseq.codonCoord_12=402;refseq.end_1=154470281;refseq.end_10=154481499;refseq.end_11=154609508;refseq.end_12=154456139;refseq.end_2=154470432;refseq.end_3=154470564;refseq.end_4=154470832;refseq.end_5=154473171;refseq.end_6=154481499;refseq.end_7=154481499;refseq.end_8=154481499;refseq.end_9=154481499;refseq.frame_12=2;refseq.functionalClass_12=missense;refseq.haplotypeAlternate_12=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=A;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_12=1443;refseq.name2_1=OPRM1;refseq.name2_10=OPRM1;refseq.name2_11=OPRM1;refseq.name2_12=OPRM1;refseq.name2_2=OPRM1;refseq.name2_3=OPRM1;refseq.name2_4=OPRM1;refseq.name2_5=OPRM1;refseq.name2_6=OPRM1;refseq.name2_7=OPRM1;refseq.name2_8=OPRM1;refseq.name2_9=OPRM1;refseq.name_1=NM_001145286;refseq.name_10=NM_001145287;refseq.name_11=NM_001008503;refseq.name_12=NM_001008505;refseq.name_2=NM_001145285;refseq.name_3=NM_001145284;refseq.name_4=NM_001145283;refseq.name_5=NM_001145282;refseq.name_6=NM_000914;refseq.name_7=NM_001145279;refseq.name_8=NM_001145280;refseq.name_9=NM_001145281;refseq.numMatchingRecords=12;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_12=p.Q402H;refseq.referenceAA_12=Gln;refseq.referenceCodon_12=CAA;refseq.spliceDist_12=42;refseq.start_1=154454311;refseq.start_10=154454311;refseq.start_11=154454311;refseq.start_12=154456139;refseq.start_2=154454311;refseq.start_3=154454311;refseq.start_4=154454311;refseq.start_5=154454311;refseq.start_6=154454311;refseq.start_7=154454311;refseq.start_8=154454311;refseq.start_9=154454311;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_12=His;refseq.variantCodon_12=CAT;set=Intersection GT 1/1 chr6 154456256 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=770;Dels=0.00;HRun=2;HaplotypeScore=5.71;MQ=98.82;MQ0=0;OQ=31394.64;QD=40.77;RankSumP=1.00000;SB=-12983.43;SecondBestBaseQ=0;refseq.changesAA_12=false;refseq.chr_1=chr6;refseq.chr_10=chr6;refseq.chr_11=chr6;refseq.chr_12=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.chr_9=chr6;refseq.codingCoordStr_12=c.1323A>G;refseq.codonCoord_12=441;refseq.end_1=154470281;refseq.end_10=154481499;refseq.end_11=154609508;refseq.end_12=154456256;refseq.end_2=154470432;refseq.end_3=154470564;refseq.end_4=154470832;refseq.end_5=154473171;refseq.end_6=154481499;refseq.end_7=154481499;refseq.end_8=154481499;refseq.end_9=154481499;refseq.frame_12=2;refseq.functionalClass_12=silent;refseq.haplotypeAlternate_12=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=A;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_12=1560;refseq.name2_1=OPRM1;refseq.name2_10=OPRM1;refseq.name2_11=OPRM1;refseq.name2_12=OPRM1;refseq.name2_2=OPRM1;refseq.name2_3=OPRM1;refseq.name2_4=OPRM1;refseq.name2_5=OPRM1;refseq.name2_6=OPRM1;refseq.name2_7=OPRM1;refseq.name2_8=OPRM1;refseq.name2_9=OPRM1;refseq.name_1=NM_001145286;refseq.name_10=NM_001145287;refseq.name_11=NM_001008503;refseq.name_12=NM_001008505;refseq.name_2=NM_001145285;refseq.name_3=NM_001145284;refseq.name_4=NM_001145283;refseq.name_5=NM_001145282;refseq.name_6=NM_000914;refseq.name_7=NM_001145279;refseq.name_8=NM_001145280;refseq.name_9=NM_001145281;refseq.numMatchingRecords=12;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_12=p.G441G;refseq.referenceAA_12=Gly;refseq.referenceCodon_12=GGA;refseq.spliceDist_12=-93;refseq.start_1=154454311;refseq.start_10=154454311;refseq.start_11=154454311;refseq.start_12=154456256;refseq.start_2=154454311;refseq.start_3=154454311;refseq.start_4=154454311;refseq.start_5=154454311;refseq.start_6=154454311;refseq.start_7=154454311;refseq.start_8=154454311;refseq.start_9=154454311;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_12=Gly;refseq.variantCodon_12=GGG;set=Intersection GT 1/1 chr6 154456266 . C T 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=707;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.81;MQ0=0;OQ=31110.73;QD=44.00;RankSumP=1.00000;SB=-11447.66;SecondBestBaseQ=0;refseq.changesAA_12=false;refseq.chr_1=chr6;refseq.chr_10=chr6;refseq.chr_11=chr6;refseq.chr_12=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.chr_4=chr6;refseq.chr_5=chr6;refseq.chr_6=chr6;refseq.chr_7=chr6;refseq.chr_8=chr6;refseq.chr_9=chr6;refseq.codingCoordStr_12=c.1333C>T;refseq.codonCoord_12=445;refseq.end_1=154470281;refseq.end_10=154481499;refseq.end_11=154609508;refseq.end_12=154456266;refseq.end_2=154470432;refseq.end_3=154470564;refseq.end_4=154470832;refseq.end_5=154473171;refseq.end_6=154481499;refseq.end_7=154481499;refseq.end_8=154481499;refseq.end_9=154481499;refseq.frame_12=0;refseq.functionalClass_12=silent;refseq.haplotypeAlternate_12=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_12=1570;refseq.name2_1=OPRM1;refseq.name2_10=OPRM1;refseq.name2_11=OPRM1;refseq.name2_12=OPRM1;refseq.name2_2=OPRM1;refseq.name2_3=OPRM1;refseq.name2_4=OPRM1;refseq.name2_5=OPRM1;refseq.name2_6=OPRM1;refseq.name2_7=OPRM1;refseq.name2_8=OPRM1;refseq.name2_9=OPRM1;refseq.name_1=NM_001145286;refseq.name_10=NM_001145287;refseq.name_11=NM_001008503;refseq.name_12=NM_001008505;refseq.name_2=NM_001145285;refseq.name_3=NM_001145284;refseq.name_4=NM_001145283;refseq.name_5=NM_001145282;refseq.name_6=NM_000914;refseq.name_7=NM_001145279;refseq.name_8=NM_001145280;refseq.name_9=NM_001145281;refseq.numMatchingRecords=12;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_12=p.L445L;refseq.referenceAA_12=Leu;refseq.referenceCodon_12=CTG;refseq.spliceDist_12=-83;refseq.start_1=154454311;refseq.start_10=154454311;refseq.start_11=154454311;refseq.start_12=154456266;refseq.start_2=154454311;refseq.start_3=154454311;refseq.start_4=154454311;refseq.start_5=154454311;refseq.start_6=154454311;refseq.start_7=154454311;refseq.start_8=154454311;refseq.start_9=154454311;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_12=Leu;refseq.variantCodon_12=TTG;set=Intersection GT 1/1 chr6 154773937 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1102T>G;refseq.codonCoord=368;refseq.end=154773937;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1607;refseq.name=NM_173515;refseq.name2=CNKSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S368A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=32;refseq.start=154773937;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr6 154805093 . G A 271.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=13.58;MQ=98.55;MQ0=0;OQ=6761.37;QD=22.31;RankSumP=0.0426523;SB=-2517.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.240C>T;refseq.codonCoord=80;refseq.end=154805093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_173515;refseq.name2=CNKSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N80N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=24;refseq.start=154805093;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr6 154812969 . A G 446.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.86;MQ0=0;OQ=4600.77;QD=37.71;RankSumP=1.00000;SB=-2216.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.168T>C;refseq.codonCoord=56;refseq.end=154812969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_173515;refseq.name2=CNKSR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I56I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-49;refseq.start=154812969;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr6 155527246 . G A 135.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=98.35;MQ0=0;OQ=3141.95;QD=14.48;RankSumP=0.259079;SB=-698.63;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2034G>A;refseq.codonCoord=678;refseq.end=155527246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2242;refseq.name=NM_012454;refseq.name2=TIAM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q678Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=155527246;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr6 155603452 . T C 156.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=248;Dels=0.00;HRun=1;HaplotypeScore=7.88;MQ=98.29;MQ0=0;OQ=8471.38;QD=34.16;RankSumP=1.00000;SB=-3516.66;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.40T>C;refseq.codingCoordStr_2=c.3265T>C;refseq.codonCoord_1=14;refseq.codonCoord_2=1089;refseq.end_1=155603452;refseq.end_2=155603452;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=225;refseq.mrnaCoord_2=3473;refseq.name2_1=TIAM2;refseq.name2_2=TIAM2;refseq.name_1=NM_001010927;refseq.name_2=NM_012454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S14P;refseq.proteinCoordStr_2=p.S1089P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.start_1=155603452;refseq.start_2=155603452;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr6 155603488 . C T 345.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.60;MQ0=0;OQ=5365.83;QD=18.01;RankSumP=0.0173974;SB=-1974.07;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.76C>T;refseq.codingCoordStr_2=c.3301C>T;refseq.codonCoord_1=26;refseq.codonCoord_2=1101;refseq.end_1=155603488;refseq.end_2=155603488;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=261;refseq.mrnaCoord_2=3509;refseq.name2_1=TIAM2;refseq.name2_2=TIAM2;refseq.name_1=NM_001010927;refseq.name_2=NM_012454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R26C;refseq.proteinCoordStr_2=p.R1101C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=155603488;refseq.start_2=155603488;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr6 155617299 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=2;HaplotypeScore=17.97;MQ=98.38;MQ0=0;OQ=5332.96;QD=18.58;RankSumP=0.178889;SB=-1449.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1143G>A;refseq.codingCoordStr_2=c.4368G>A;refseq.codonCoord_1=381;refseq.codonCoord_2=1456;refseq.end_1=155617299;refseq.end_2=155617299;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1328;refseq.mrnaCoord_2=4576;refseq.name2_1=TIAM2;refseq.name2_2=TIAM2;refseq.name_1=NM_001010927;refseq.name_2=NM_012454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E381E;refseq.proteinCoordStr_2=p.E1456E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=155617299;refseq.start_2=155617299;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr6 155619515 . C T 264.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=98.62;MQ0=0;OQ=2855.24;QD=15.60;RankSumP=0.490659;SB=-779.60;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1449C>T;refseq.codingCoordStr_2=c.4674C>T;refseq.codonCoord_1=483;refseq.codonCoord_2=1558;refseq.end_1=155619515;refseq.end_2=155619515;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1634;refseq.mrnaCoord_2=4882;refseq.name2_1=TIAM2;refseq.name2_2=TIAM2;refseq.name_1=NM_001010927;refseq.name_2=NM_012454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A483A;refseq.proteinCoordStr_2=p.A1558A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=206;refseq.spliceDist_2=206;refseq.start_1=155619515;refseq.start_2=155619515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr6 155638593 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=8.33;MQ=98.71;MQ0=0;OQ=1759.11;QD=9.99;RankSumP=0.170507;SB=-298.38;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.48T>C;refseq.codonCoord_2=16;refseq.end_1=155647973;refseq.end_2=155638593;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=428;refseq.name2_1=TFB1M;refseq.name2_2=CLDN20;refseq.name_1=NM_016020;refseq.name_2=NM_001001346;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S16S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=152;refseq.start_1=155623237;refseq.start_2=155638593;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr6 155648017 . C T 205.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=98.89;MQ0=0;OQ=5753.17;QD=20.84;RankSumP=0.482729;SB=-1816.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.633G>A;refseq.codonCoord=211;refseq.end=155648017;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_016020;refseq.name2=TFB1M;refseq.positionType=CDS;refseq.proteinCoordStr=p.T211T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-34;refseq.start=155648017;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 155791727 . C T 294.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=6583.01;QD=43.31;RankSumP=1.00000;SB=-2488.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1038G>A;refseq.codonCoord=346;refseq.end=155791727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_015718;refseq.name2=NOX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E346E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-108;refseq.start=155791727;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr6 155817734 . C A 21.57 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=221;Dels=0.00;HRun=2;HaplotypeScore=30.67;MQ=97.82;MQ0=0;QD=0.10;RankSumP=0.00000;SB=203.71;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.158G>T;refseq.codonCoord=53;refseq.end=155817734;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_015718;refseq.name2=NOX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W53L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=14;refseq.start=155817734;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr6 157447622 . G A 346.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=98.67;MQ0=0;OQ=6880.82;QD=19.66;RankSumP=0.154719;SB=-2773.66;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1959G>A;refseq.codingCoordStr_2=c.1998G>A;refseq.codingCoordStr_3=c.1959G>A;refseq.codonCoord_1=653;refseq.codonCoord_2=666;refseq.codonCoord_3=653;refseq.end_1=157447622;refseq.end_2=157447622;refseq.end_3=157447622;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2111;refseq.mrnaCoord_2=2150;refseq.mrnaCoord_3=2111;refseq.name2_1=ARID1B;refseq.name2_2=ARID1B;refseq.name2_3=ARID1B;refseq.name_1=NM_017519;refseq.name_2=NM_020732;refseq.name_3=NM_175863;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A653A;refseq.proteinCoordStr_2=p.A666A;refseq.proteinCoordStr_3=p.A653A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.spliceDist_3=-110;refseq.start_1=157447622;refseq.start_2=157447622;refseq.start_3=157447622;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr6 157883731 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.383538;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.372G>A;refseq.codingCoordStr_2=c.372G>A;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=157883731;refseq.end_2=157883731;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=869;refseq.mrnaCoord_2=869;refseq.name2_1=ZDHHC14;refseq.name2_2=ZDHHC14;refseq.name_1=NM_024630;refseq.name_2=NM_153746;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T124T;refseq.proteinCoordStr_2=p.T124T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=157883731;refseq.start_2=157883731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=soap GT 1/0 chr6 158405847 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=4.00053e-06;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1361T>G;refseq.codonCoord=454;refseq.end=158405847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1436;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V454G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=158405847;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 158417705 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=18.82;MQ=98.48;MQ0=0;OQ=6650.48;QD=30.79;RankSumP=1.00000;SB=-3281.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2352T>C;refseq.codonCoord=784;refseq.end=158417705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2427;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V784V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=60;refseq.start=158417705;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr6 158419290 . G T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=573;Dels=0.00;HRun=1;HaplotypeScore=2.56;MQ=98.89;MQ0=0;OQ=22990.93;QD=40.12;RankSumP=1.00000;SB=-9578.41;SecondBestBaseQ=35;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2556G>T;refseq.codonCoord=852;refseq.end=158419290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2631;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A852A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=158419290;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 158425076 . A G 96.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=2.94;MQ=98.88;MQ0=0;OQ=4208.66;QD=41.26;RankSumP=1.00000;SB=-1816.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3090A>G;refseq.codonCoord=1030;refseq.end=158425076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3165;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1030G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=56;refseq.start=158425076;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr6 158427969 . G A 118.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.17;MQ0=0;OQ=4014.92;QD=35.53;RankSumP=1.00000;SB=-1060.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3303G>A;refseq.codonCoord=1101;refseq.end=158427969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3378;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1101R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-41;refseq.start=158427969;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr6 158429738 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=9.30;MQ=98.77;MQ0=0;OQ=11144.54;QD=41.43;RankSumP=1.00000;SB=-4838.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.3402A>G;refseq.codonCoord=1134;refseq.end=158429738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3477;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1134G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-55;refseq.start=158429738;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr6 158437296 . A G 322.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=3503.46;QD=41.22;RankSumP=1.00000;SB=-1704.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4403A>G;refseq.codonCoord=1468;refseq.end=158437296;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4478;refseq.name=NM_003898;refseq.name2=SYNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1468G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=659;refseq.start=158437296;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr6 158491489 . G A 289.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.57;MQ0=0;OQ=2789.24;QD=15.85;RankSumP=0.305418;SB=-1259.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.249C>T;refseq.codonCoord=83;refseq.end=158491489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=391;refseq.name=NM_032861;refseq.name2=SERAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D83D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-17;refseq.start=158491489;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr6 158655075 . C T 312.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=98.70;MQ0=0;OQ=10427.48;QD=40.26;RankSumP=1.00000;SB=-5111.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.39C>T;refseq.codingCoordStr_2=c.39C>T;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=158655075;refseq.end_2=158655075;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1396;refseq.name2_1=TULP4;refseq.name2_2=TULP4;refseq.name_1=NM_001007466;refseq.name_2=NM_020245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S13S;refseq.proteinCoordStr_2=p.S13S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.start_1=158655075;refseq.start_2=158655075;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr6 158655078 . T C 323.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.69;MQ0=0;OQ=9784.05;QD=38.98;RankSumP=1.00000;SB=-4646.53;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.42T>C;refseq.codingCoordStr_2=c.42T>C;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=158655078;refseq.end_2=158655078;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1399;refseq.mrnaCoord_2=1399;refseq.name2_1=TULP4;refseq.name2_2=TULP4;refseq.name_1=NM_001007466;refseq.name_2=NM_020245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D14D;refseq.proteinCoordStr_2=p.D14D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-211;refseq.spliceDist_2=-211;refseq.start_1=158655078;refseq.start_2=158655078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 158790069 . A G 270.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=5.26;MQ=98.84;MQ0=0;OQ=6114.05;QD=20.31;RankSumP=0.0212962;SB=-1929.52;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.597A>G;refseq.codingCoordStr_2=c.597A>G;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.end_1=158790069;refseq.end_2=158790069;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1954;refseq.mrnaCoord_2=1954;refseq.name2_1=TULP4;refseq.name2_2=TULP4;refseq.name_1=NM_001007466;refseq.name_2=NM_020245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R199R;refseq.proteinCoordStr_2=p.R199R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=158790069;refseq.start_2=158790069;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr6 158843422 . G C 218.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=4.54;MQ=97.45;MQ0=0;OQ=4788.43;QD=41.28;RankSumP=1.00000;SB=-2062.58;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.2739G>C;refseq.codonCoord_2=913;refseq.end_1=158847587;refseq.end_2=158843422;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4096;refseq.name2_1=TULP4;refseq.name2_2=TULP4;refseq.name_1=NM_001007466;refseq.name_2=NM_020245;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T913T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=725;refseq.start_1=158839843;refseq.start_2=158843422;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr6 158844076 . T C 334.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.61;MQ0=0;OQ=4000.62;QD=33.90;RankSumP=1.00000;SB=-1950.79;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_2=c.3393T>C;refseq.codonCoord_2=1131;refseq.end_1=158847587;refseq.end_2=158844076;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4750;refseq.name2_1=TULP4;refseq.name2_2=TULP4;refseq.name_1=NM_001007466;refseq.name_2=NM_020245;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D1131D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-1123;refseq.start_1=158839843;refseq.start_2=158844076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr6 159104450 . A G 239.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=11.96;MQ=98.66;MQ0=0;OQ=13322.43;QD=37.32;RankSumP=1.00000;SB=-6160.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1440A>G;refseq.codonCoord=480;refseq.end=159104450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1823;refseq.name=NM_001009991;refseq.name2=SYTL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S480S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-80;refseq.start=159104450;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr6 159105551 . T A 227.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.84;MQ0=0;OQ=13770.53;QD=38.47;RankSumP=1.00000;SB=-5189.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1556T>A;refseq.codonCoord=519;refseq.end=159105551;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1939;refseq.name=NM_001009991;refseq.name2=SYTL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L519Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=37;refseq.start=159105551;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr6 159182941 . T C 313.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=7.76;MQ=98.23;MQ0=0;OQ=7803.52;QD=20.81;RankSumP=0.193277;SB=-3205.05;SecondBestBaseQ=33;refseq.chr=chr6;refseq.end=159182941;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=391;refseq.name=NR_028496;refseq.name2=OSTCL;refseq.positionType=non_coding_exon;refseq.spliceDist=219;refseq.start=159182941;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr6 159183045 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=345;Dels=0.00;HRun=0;HaplotypeScore=10.03;MQ=98.37;MQ0=0;OQ=184.54;QD=0.53;RankSumP=0.00000;SB=483.59;SecondBestBaseQ=23;refseq.chr=chr6;refseq.end=159183045;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=287;refseq.name=NR_028496;refseq.name2=OSTCL;refseq.positionType=non_coding_exon;refseq.spliceDist=115;refseq.start=159183045;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 160033862 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=97.99;MQ0=0;OQ=723.91;QD=12.70;RankSumP=0.748233;SB=-72.85;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.47T>C;refseq.codingCoordStr_2=c.47T>C;refseq.codingCoordStr_3=c.47T>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.end_1=160033862;refseq.end_2=160033862;refseq.end_3=160033862;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=201;refseq.mrnaCoord_2=201;refseq.mrnaCoord_3=201;refseq.name2_1=SOD2;refseq.name2_2=SOD2;refseq.name2_3=SOD2;refseq.name_1=NM_000636;refseq.name_2=NM_001024465;refseq.name_3=NM_001024466;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V16A;refseq.proteinCoordStr_2=p.V16A;refseq.proteinCoordStr_3=p.V16A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=160033862;refseq.start_2=160033862;refseq.start_3=160033862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chr6 160116333 . A G 346.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.97;MQ0=0;OQ=5386.50;QD=19.45;RankSumP=0.164329;SB=-1738.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.632A>G;refseq.codonCoord=211;refseq.end=160116333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_005891;refseq.name2=ACAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K211R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=160116333;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr6 160117276 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.739A>C;refseq.codonCoord=247;refseq.end=160117276;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_005891;refseq.name2=ACAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T247P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-19;refseq.start=160117276;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr6 160118385 . G A 343.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.27;MQ0=0;OQ=7165.95;QD=21.39;RankSumP=0.0509524;SB=-2403.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.819G>A;refseq.codonCoord=273;refseq.end=160118385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_005891;refseq.name2=ACAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G273G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=62;refseq.start=160118385;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr6 160118460 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.894T>C;refseq.codonCoord=298;refseq.end=160118460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_005891;refseq.name2=ACAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I298I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-19;refseq.start=160118460;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr6 160121285 . C A 237.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.72;MQ0=0;OQ=2553.28;QD=14.76;RankSumP=0.312486;SB=-1227.43;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.end_1=160121454;refseq.end_2=160121454;refseq.end_3=160121285;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=119;refseq.name2_1=TCP1;refseq.name2_2=TCP1;refseq.name2_3=SNORA20;refseq.name_1=NM_001008897;refseq.name_2=NM_030752;refseq.name_3=NR_002960;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-14;refseq.start_1=160121120;refseq.start_2=160121120;refseq.start_3=160121285;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/0 chr6 160126621 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.25;MQ0=0;OQ=1990.28;QD=12.76;RankSumP=0.240892;SB=-970.11;SecondBestBaseQ=33;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.end_1=160126911;refseq.end_2=160126911;refseq.end_3=160126621;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=135;refseq.name2_1=TCP1;refseq.name2_2=TCP1;refseq.name2_3=SNORA29;refseq.name_1=NM_001008897;refseq.name_2=NM_030752;refseq.name_3=NR_002965;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=160126529;refseq.start_2=160126529;refseq.start_3=160126621;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/0 chr6 160131626 rs1128670 G A 0.81 PASS AC=1;AF=0.50;AN=2;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=95.90;MQ0=0;OQ=858.22;QD=5.54;SB=-342.07;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.17G>A;refseq.codonCoord=6;refseq.end=160131626;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_014161;refseq.name2=MRPL18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R6Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-36;refseq.start=160131626;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=gatk GT:AD:DP:GL:GQ 0/1:118,34:136:-130.07,-40.96,-403.22:99 chr6 160145002 . T G 187.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=98.80;MQ0=0;OQ=4724.47;QD=15.64;RankSumP=0.381405;SB=-998.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.231T>G;refseq.codonCoord=77;refseq.end=160145002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_173516;refseq.name2=PNLDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S77S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=16;refseq.start=160145002;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr6 160248610 . C T 179.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=0.94;MQ=98.71;MQ0=0;OQ=5631.98;QD=22.26;RankSumP=0.398405;SB=-1827.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.633C>T;refseq.codonCoord=211;refseq.end=160248610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_002377;refseq.name2=MAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V211V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-488;refseq.start=160248610;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr6 160373968 . A G 126.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=399.99;QD=14.81;RankSumP=0.285962;SB=-180.30;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1050A>G;refseq.codonCoord=350;refseq.end=160373968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.S350S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=160373968;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr6 160384279 . G A 137.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=525;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=98.69;MQ0=0;OQ=9223.86;QD=17.57;RankSumP=0.137563;SB=-3845.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1590G>A;refseq.codonCoord=530;refseq.end=160384279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.G530G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-32;refseq.start=160384279;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr6 160388268 . A G 277.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=10.88;MQ=98.88;MQ0=0;OQ=15669.64;QD=38.22;RankSumP=1.00000;SB=-5099.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.2139A>G;refseq.codonCoord=713;refseq.end=160388268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2287;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T713T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=88;refseq.start=160388268;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr6 160414399 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.41;MQ0=0;OQ=2261.70;QD=34.80;RankSumP=1.00000;SB=-638.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.4855A>G;refseq.codonCoord=1619;refseq.end=160414399;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5003;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1619G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-93;refseq.start=160414399;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr6 160425189 . C G 118.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=8.33;MQ=98.04;MQ0=0;OQ=5152.52;QD=38.74;RankSumP=1.00000;SB=-647.88;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.6051C>G;refseq.codonCoord=2017;refseq.end=160425189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6199;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2017L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-18;refseq.start=160425189;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr6 160425197 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=98.01;MQ0=0;OQ=1479.42;QD=11.47;RankSumP=0.260389;SB=-58.81;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.6059A>G;refseq.codonCoord=2020;refseq.end=160425197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6207;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2020S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=160425197;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr6 160437471 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=872;Dels=0.00;HRun=1;HaplotypeScore=28.33;MQ=98.92;MQ0=0;OQ=17225.68;QD=19.75;RankSumP=0.373566;SB=-5812.82;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.6666C>T;refseq.codonCoord=2222;refseq.end=160437471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6814;refseq.name=NM_000876;refseq.name2=IGF2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2222L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=11;refseq.start=160437471;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr6 160463113 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=3.06;MQ=98.94;MQ0=0;OQ=1023.74;QD=10.55;RankSumP=0.459972;SB=-403.90;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.156T>C;refseq.codingCoordStr_2=c.156T>C;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.end_1=160463113;refseq.end_2=160463113;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=261;refseq.mrnaCoord_2=261;refseq.name2_1=SLC22A1;refseq.name2_2=SLC22A1;refseq.name_1=NM_003057;refseq.name_2=NM_153187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S52S;refseq.proteinCoordStr_2=p.S52S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-256;refseq.spliceDist_2=-256;refseq.start_1=160463113;refseq.start_2=160463113;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr6 160463301 . A C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500064;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.344A>C;refseq.codingCoordStr_2=c.344A>C;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=160463301;refseq.end_2=160463301;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=449;refseq.name2_1=SLC22A1;refseq.name2_2=SLC22A1;refseq.name_1=NM_003057;refseq.name_2=NM_153187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H115P;refseq.proteinCoordStr_2=p.H115P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=160463301;refseq.start_2=160463301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr6 160471194 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=576;Dels=0.00;HRun=0;HaplotypeScore=19.43;MQ=98.56;MQ0=0;OQ=28102.26;QD=48.79;RankSumP=1.00000;SB=-12176.39;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.480G>C;refseq.codingCoordStr_2=c.480G>C;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.end_1=160471194;refseq.end_2=160471194;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=585;refseq.name2_1=SLC22A1;refseq.name2_2=SLC22A1;refseq.name_1=NM_003057;refseq.name_2=NM_153187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L160F;refseq.proteinCoordStr_2=p.L160F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=160471194;refseq.start_2=160471194;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr6 160480835 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=96.45;MQ0=0;OQ=1765.97;QD=8.49;RankSumP=0.000385967;SB=-817.74;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1222A>G;refseq.codingCoordStr_2=c.1222A>G;refseq.codonCoord_1=408;refseq.codonCoord_2=408;refseq.end_1=160480835;refseq.end_2=160480835;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1327;refseq.mrnaCoord_2=1327;refseq.name2_1=SLC22A1;refseq.name2_2=SLC22A1;refseq.name_1=NM_003057;refseq.name_2=NM_153187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M408V;refseq.proteinCoordStr_2=p.M408V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=160480835;refseq.start_2=160480835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 0/1 chr6 160497001 . G A 111.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.83;MQ0=0;OQ=895.87;QD=16.00;RankSumP=0.425111;SB=-241.72;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1503G>A;refseq.codingCoordStr_2=c.1390G>A;refseq.codonCoord_1=501;refseq.codonCoord_2=464;refseq.end_1=160497001;refseq.end_2=160497001;refseq.frame_1=2;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1495;refseq.name2_1=SLC22A1;refseq.name2_2=SLC22A1;refseq.name_1=NM_003057;refseq.name_2=NM_153187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V501V;refseq.proteinCoordStr_2=p.V464I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=160497001;refseq.start_2=160497001;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Ile;refseq.variantCodon_1=GTA;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr6 160565822 . C T 421.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.64;MQ0=0;OQ=4200.82;QD=39.63;RankSumP=1.00000;SB=-997.83;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1506G>A;refseq.codonCoord=502;refseq.end=160565822;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_003058;refseq.name2=SLC22A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V502V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=160565822;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr6 160590272 . A C 411.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=9031.19;QD=40.68;RankSumP=1.00000;SB=-3512.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.808T>G;refseq.codonCoord=270;refseq.end=160590272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_003058;refseq.name2=SLC22A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S270A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-35;refseq.start=160590272;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 160689801 . C T 94.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=97.64;MQ0=0;OQ=1001.04;QD=32.29;RankSumP=1.00000;SB=-353.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.360C>T;refseq.codonCoord=120;refseq.end=160689801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_021977;refseq.name2=SLC22A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R120R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-70;refseq.start=160689801;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr6 160778201 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1256T>G;refseq.codonCoord=419;refseq.end=160778201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1283;refseq.name=NM_021977;refseq.name2=SLC22A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V419G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-33;refseq.start=160778201;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr6 160889619 . A G 322.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=85.98;MQ0=17;OQ=4065.70;QD=17.45;RankSumP=0.337646;SB=-1148.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.5036T>C;refseq.codonCoord=1679;refseq.end=160889619;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5156;refseq.name=NM_005577;refseq.name2=LPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1679T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=63;refseq.start=160889619;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr6 160926067 . C T 149.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=707;Dels=0.00;HRun=0;HaplotypeScore=16.83;MQ=98.71;MQ0=0;OQ=12850.09;QD=18.18;RankSumP=0.115231;SB=-3249.87;SecondBestBaseQ=32;refseq.chr=chr6;refseq.codingCoordStr=c.4289+1;refseq.end=160926067;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_005577;refseq.name2=LPA;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=160926067;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr6 160974849 . A T 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1161T>A;refseq.codonCoord=387;refseq.end=160974849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_005577;refseq.name2=LPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T387T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-75;refseq.start=160974849;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/1 chr6 160974894 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.545455;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1116C>T;refseq.codonCoord=372;refseq.end=160974894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1236;refseq.name=NM_005577;refseq.name2=LPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.H372H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=41;refseq.start=160974894;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr6 161047491 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=323;Dels=0.00;HRun=0;HaplotypeScore=12.71;MQ=84.50;MQ0=0;OQ=6349.93;QD=19.66;RankSumP=0.354306;SB=-2553.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.112A>G;refseq.codingCoordStr_2=c.112A>G;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.end_1=161047491;refseq.end_2=161047491;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=224;refseq.mrnaCoord_2=224;refseq.name2_1=PLG;refseq.name2_2=PLG;refseq.name_1=NM_000301;refseq.name_2=NM_001168338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K38E;refseq.proteinCoordStr_2=p.K38E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=161047491;refseq.start_2=161047491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr6 161052136 . C T 119.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=32.61;MQ0=36;OQ=1518.94;QD=19.73;RankSumP=1.00000;SB=-731.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.330C>T;refseq.codingCoordStr_2=c.330C>T;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=161052136;refseq.end_2=161052136;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=442;refseq.mrnaCoord_2=442;refseq.name2_1=PLG;refseq.name2_2=PLG;refseq.name_1=NM_000301;refseq.name_2=NM_001168338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N110N;refseq.proteinCoordStr_2=p.N110N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=161052136;refseq.start_2=161052136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr6 161059847 . A G 301.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=98.79;MQ0=0;OQ=12745.02;QD=39.95;RankSumP=1.00000;SB=-6030.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1083A>G;refseq.codonCoord=361;refseq.end=161059847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1195;refseq.name=NM_000301;refseq.name2=PLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q361Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-14;refseq.start=161059847;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr6 161072230 . G A 262.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=3688.46;QD=42.89;RankSumP=1.00000;SB=-1212.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1414G>A;refseq.codonCoord=472;refseq.end=161072230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1526;refseq.name=NM_000301;refseq.name2=PLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D472N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-25;refseq.start=161072230;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr6 161094031 . T C 72 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00255586;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2381T>C;refseq.codonCoord=794;refseq.end=161094031;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2493;refseq.name=NM_000301;refseq.name2=PLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V794A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=110;refseq.start=161094031;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr6 161094066 . G A 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.2416G>A;refseq.codonCoord=806;refseq.end=161094066;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2528;refseq.name=NM_000301;refseq.name2=PLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V806M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=145;refseq.start=161094066;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr6 161389764 . G A 309.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=98.63;MQ0=0;OQ=10054.48;QD=40.71;RankSumP=1.00000;SB=-3125.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.470G>A;refseq.codingCoordStr_2=c.470G>A;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=161389764;refseq.end_2=161389764;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=612;refseq.mrnaCoord_2=612;refseq.name2_1=MAP3K4;refseq.name2_2=MAP3K4;refseq.name_1=NM_005922;refseq.name_2=NM_006724;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R157H;refseq.proteinCoordStr_2=p.R157H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=127;refseq.spliceDist_2=127;refseq.start_1=161389764;refseq.start_2=161389764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr6 161477652 . G A 355.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=98.62;MQ0=0;OQ=12696.64;QD=42.32;RankSumP=1.00000;SB=-4155.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1047C>T;refseq.codonCoord=349;refseq.end=161477652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_020133;refseq.name2=AGPAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S349S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=161477652;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr6 161480549 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.937T>G;refseq.codonCoord=313;refseq.end=161480549;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_020133;refseq.name2=AGPAT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F313V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=94;refseq.start=161480549;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr6 161727845 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.93;MQ0=0;OQ=9219.66;QD=23.28;RankSumP=0.338184;SB=-3365.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.1138G>C;refseq.codingCoordStr_2=c.1054G>C;refseq.codingCoordStr_3=c.691G>C;refseq.codonCoord_1=380;refseq.codonCoord_2=352;refseq.codonCoord_3=231;refseq.end_1=161727845;refseq.end_2=161727845;refseq.end_3=161727845;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1272;refseq.mrnaCoord_2=1188;refseq.mrnaCoord_3=825;refseq.name2_1=PARK2;refseq.name2_2=PARK2;refseq.name2_3=PARK2;refseq.name_1=NM_004562;refseq.name_2=NM_013987;refseq.name_3=NM_013988;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V380L;refseq.proteinCoordStr_2=p.V352L;refseq.proteinCoordStr_3=p.V231L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=161727845;refseq.start_2=161727845;refseq.start_3=161727845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/0 chr6 163069335 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.78A>C;refseq.codingCoordStr_2=c.78A>C;refseq.codingCoordStr_3=c.78A>C;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.codonCoord_3=26;refseq.end_1=163069335;refseq.end_2=163069335;refseq.end_3=163069335;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=344;refseq.mrnaCoord_3=302;refseq.name2_1=PACRG;refseq.name2_2=PACRG;refseq.name2_3=PACRG;refseq.name_1=NM_001080378;refseq.name_2=NM_001080379;refseq.name_3=NM_152410;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q26H;refseq.proteinCoordStr_2=p.Q26H;refseq.proteinCoordStr_3=p.Q26H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.spliceDist_3=-79;refseq.start_1=163069335;refseq.start_2=163069335;refseq.start_3=163069335;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT 0/1 chr6 165633951 . A C 149.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=425.02;QD=18.48;RankSumP=0.380913;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.768T>G;refseq.codonCoord=256;refseq.end=165633951;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_144980;refseq.name2=C6orf118;refseq.positionType=CDS;refseq.proteinCoordStr=p.I256M;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=15;refseq.start=165633951;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr6 165635450 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=1090.38;QD=13.80;RankSumP=0.269845;SB=-312.49;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.351C>G;refseq.codonCoord=117;refseq.end=165635450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_144980;refseq.name2=C6orf118;refseq.positionType=CDS;refseq.proteinCoordStr=p.A117A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=326;refseq.start=165635450;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr6 165635663 . A G 111.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=4.30;MQ=98.87;MQ0=0;OQ=2675.94;QD=14.16;RankSumP=0.0149041;SB=-1324.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.138T>C;refseq.codonCoord=46;refseq.end=165635663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_144980;refseq.name2=C6orf118;refseq.positionType=CDS;refseq.proteinCoordStr=p.N46N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=113;refseq.start=165635663;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr6 165752217 . C T 281.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.99;MQ0=0;OQ=2606.25;QD=15.51;RankSumP=0.0248111;SB=-1000.96;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.894G>A;refseq.codingCoordStr_2=c.864G>A;refseq.codonCoord_1=298;refseq.codonCoord_2=288;refseq.end_1=165752217;refseq.end_2=165752217;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=977;refseq.mrnaCoord_2=1105;refseq.name2_1=PDE10A;refseq.name2_2=PDE10A;refseq.name_1=NM_001130690;refseq.name_2=NM_006661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A298A;refseq.proteinCoordStr_2=p.A288A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=165752217;refseq.start_2=165752217;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr6 166491925 . C T 196.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.65;MQ0=0;OQ=3322.26;QD=39.09;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1176G>A;refseq.codonCoord=392;refseq.end=166491925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1669;refseq.name=NM_003181;refseq.name2=T;refseq.positionType=CDS;refseq.proteinCoordStr=p.A392A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=142;refseq.start=166491925;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr6 166499243 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.547A>C;refseq.codonCoord=183;refseq.end=166499243;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_003181;refseq.name2=T;refseq.positionType=CDS;refseq.proteinCoordStr=p.T183P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-60;refseq.start=166499243;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr6 166499260 . C T 383.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=98.90;MQ0=0;OQ=5265.46;QD=35.82;RankSumP=1.00000;SB=-923.18;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.530G>A;refseq.codonCoord=177;refseq.end=166499260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_003181;refseq.name2=T;refseq.positionType=CDS;refseq.proteinCoordStr=p.G177D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=59;refseq.start=166499260;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr6 166500862 . A C 17.92 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=169;Dels=0.00;HRun=3;HaplotypeScore=13.83;MQ=98.37;MQ0=0;QD=0.11;RankSumP=0.00000;SB=290.20;SecondBestBaseQ=17;refseq.chr=chr6;refseq.codingCoordStr=c.206+2;refseq.end=166500862;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_003181;refseq.name2=T;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=166500862;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 166640796 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=98.24;MQ0=0;OQ=232.25;QD=8.01;RankSumP=0.526179;SB=-6.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.825C>G;refseq.codonCoord=275;refseq.end=166640796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_175922;refseq.name2=PRR18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S275S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1066;refseq.start=166640796;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr6 166641201 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.59;MQ0=0;OQ=404.49;QD=8.79;RankSumP=0.513809;SB=-207.44;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.420C>A;refseq.codonCoord=140;refseq.end=166641201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_175922;refseq.name2=PRR18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T140T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=661;refseq.start=166641201;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 166641214 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=97.59;MQ0=0;OQ=645.91;QD=14.04;RankSumP=0.364191;SB=-324.54;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.407G>C;refseq.codonCoord=136;refseq.end=166641214;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_175922;refseq.name2=PRR18;refseq.positionType=CDS;refseq.proteinCoordStr=p.C136S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=648;refseq.start=166641214;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr6 166658051 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.374T>G;refseq.codonCoord=125;refseq.end=166658051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_145169;refseq.name2=SFT2D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V125G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=166658051;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr6 166659636 . T C 210.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=3.76;MQ=98.96;MQ0=0;OQ=2264.61;QD=17.03;RankSumP=0.269853;SB=-968.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.325A>G;refseq.codonCoord=109;refseq.end=166659636;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_145169;refseq.name2=SFT2D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I109V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=166659636;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr6 166782223 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=6.63;MQ=98.72;MQ0=0;OQ=2046.83;QD=17.65;RankSumP=0.0948717;SB=-120.69;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1335A>G;refseq.codingCoordStr_2=c.1311A>G;refseq.codonCoord_1=445;refseq.codonCoord_2=437;refseq.end_1=166782223;refseq.end_2=166782223;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1448;refseq.mrnaCoord_2=1530;refseq.name2_1=RPS6KA2;refseq.name2_2=RPS6KA2;refseq.name_1=NM_001006932;refseq.name_2=NM_021135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T445T;refseq.proteinCoordStr_2=p.T437T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=166782223;refseq.start_2=166782223;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr6 166793000 . C T 225.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=98.76;MQ0=0;OQ=2635.91;QD=14.56;RankSumP=0.357009;SB=-819.29;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1026G>A;refseq.codingCoordStr_2=c.1002G>A;refseq.codonCoord_1=342;refseq.codonCoord_2=334;refseq.end_1=166793000;refseq.end_2=166793000;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1139;refseq.mrnaCoord_2=1221;refseq.name2_1=RPS6KA2;refseq.name2_2=RPS6KA2;refseq.name_1=NM_001006932;refseq.name_2=NM_021135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P342P;refseq.proteinCoordStr_2=p.P334P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=166793000;refseq.start_2=166793000;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr6 166872254 . G A 173.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=98.73;MQ0=0;OQ=1960.17;QD=13.33;RankSumP=0.00750997;SB=-674.19;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.132C>T;refseq.codingCoordStr_2=c.108C>T;refseq.codonCoord_1=44;refseq.codonCoord_2=36;refseq.end_1=166872254;refseq.end_2=166872254;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=245;refseq.mrnaCoord_2=327;refseq.name2_1=RPS6KA2;refseq.name2_2=RPS6KA2;refseq.name_1=NM_001006932;refseq.name_2=NM_021135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G44G;refseq.proteinCoordStr_2=p.G36G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=166872254;refseq.start_2=166872254;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 1/0 chr6 167191701 . T C 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=46.62;MQ=96.28;MQ0=0;OQ=10521.99;QD=23.33;RankSumP=1.00000;SB=-2643.69;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.100A>G;refseq.codonCoord=34;refseq.end=167191701;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_001006932;refseq.name2=RPS6KA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T34A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-24;refseq.start=167191701;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr6 167191705 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.96G>C;refseq.codonCoord=32;refseq.end=167191705;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_001006932;refseq.name2=RPS6KA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E32D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-28;refseq.start=167191705;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr6 167191706 . T C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=474;Dels=0.00;HRun=2;HaplotypeScore=119.60;MQ=96.29;MQ0=0;OQ=10760.72;QD=22.70;RankSumP=1.00000;SB=-1035.98;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.95A>G;refseq.codonCoord=32;refseq.end=167191706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_001006932;refseq.name2=RPS6KA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E32G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-29;refseq.start=167191706;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/1 chr6 167264573 . A G 349.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.56;MQ0=0;OQ=6777.09;QD=18.37;RankSumP=0.270653;SB=-2000.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.516T>C;refseq.codonCoord=172;refseq.end=167264573;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_003730;refseq.name2=RNASET2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L172L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=24;refseq.start=167264573;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr6 167469765 . T C 254.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.89;MQ0=0;OQ=8784.28;QD=19.35;RankSumP=8.04014e-09;SB=-3569.05;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.57T>C;refseq.codingCoordStr_2=c.57T>C;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=167469765;refseq.end_2=167469765;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=362;refseq.mrnaCoord_2=625;refseq.name2_1=CCR6;refseq.name2_2=CCR6;refseq.name_1=NM_004367;refseq.name_2=NM_031409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F19F;refseq.proteinCoordStr_2=p.F19F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=167469765;refseq.start_2=167469765;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 1/0 chr6 167470032 . C T 172.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=12.14;MQ=98.77;MQ0=0;OQ=12034.59;QD=42.98;RankSumP=1.00000;SB=-3643.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.324C>T;refseq.codingCoordStr_2=c.324C>T;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.end_1=167470032;refseq.end_2=167470032;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=629;refseq.mrnaCoord_2=892;refseq.name2_1=CCR6;refseq.name2_2=CCR6;refseq.name_1=NM_004367;refseq.name_2=NM_031409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T108T;refseq.proteinCoordStr_2=p.T108T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=315;refseq.spliceDist_2=315;refseq.start_1=167470032;refseq.start_2=167470032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr6 167491038 . T C 47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.65;MQ0=0;OQ=599.63;QD=28.55;RankSumP=1.00000;SB=-133.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.272A>G;refseq.codonCoord=91;refseq.end=167491038;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_005299;refseq.name2=GPR31;refseq.positionType=CDS;refseq.proteinCoordStr=p.H91R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=272;refseq.start=167491038;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr6 167639426 . G A 457.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.63;MQ0=0;OQ=3754.07;QD=38.70;RankSumP=1.00000;SB=-1654.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.748G>A;refseq.codingCoordStr_2=c.874G>A;refseq.codonCoord_1=250;refseq.codonCoord_2=292;refseq.end_1=167639426;refseq.end_2=167639426;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=923;refseq.mrnaCoord_2=1049;refseq.name2_1=UNC93A;refseq.name2_2=UNC93A;refseq.name_1=NM_001143947;refseq.name_2=NM_018974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V250I;refseq.proteinCoordStr_2=p.V292I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=167639426;refseq.start_2=167639426;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr6 167648764 . T C 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=23.95;MQ0=101;OQ=438.40;QD=3.72;RankSumP=1.00000;SB=-48.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1082T>C;refseq.codingCoordStr_2=c.1208T>C;refseq.codonCoord_1=361;refseq.codonCoord_2=403;refseq.end_1=167648764;refseq.end_2=167648764;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1383;refseq.name2_1=UNC93A;refseq.name2_2=UNC93A;refseq.name_1=NM_001143947;refseq.name_2=NM_018974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M361T;refseq.proteinCoordStr_2=p.M403T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=167648764;refseq.start_2=167648764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap-filterIngatk GT 1/1 chr6 167648765 . G A 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=24.25;MQ0=99;OQ=154.37;QD=1.34;RankSumP=0.586247;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1083G>A;refseq.codingCoordStr_2=c.1209G>A;refseq.codonCoord_1=361;refseq.codonCoord_2=403;refseq.end_1=167648765;refseq.end_2=167648765;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1258;refseq.mrnaCoord_2=1384;refseq.name2_1=UNC93A;refseq.name2_2=UNC93A;refseq.name_1=NM_001143947;refseq.name_2=NM_018974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M361I;refseq.proteinCoordStr_2=p.M403I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=167648765;refseq.start_2=167648765;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=soap-filterIngatk GT 1/0 chr6 167674651 . A G 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=265;Dels=0.00;HRun=4;HaplotypeScore=6.95;MQ=98.90;MQ0=0;OQ=9556.61;QD=36.06;RankSumP=1.00000;SB=-4626.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1273A>G;refseq.codonCoord=425;refseq.end=167674651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1361;refseq.name=NM_031949;refseq.name2=TTLL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R425G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=1069;refseq.start=167674651;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr6 167674700 . A C 229.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.82;MQ0=0;OQ=5823.87;QD=21.73;RankSumP=0.321443;SB=-2104.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1322A>C;refseq.codonCoord=441;refseq.end=167674700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1410;refseq.name=NM_031949;refseq.name2=TTLL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K441T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1118;refseq.start=167674700;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr6 167706740 . C A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.642857;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.888G>T;refseq.codonCoord=296;refseq.end=167706740;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_004610;refseq.name2=TCP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K296N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=99;refseq.start=167706740;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr6 167707827 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=4.11353e-05;SecondBestBaseQ=19;refseq.chr=chr6;refseq.codingCoordStr=c.789+2;refseq.end=167707827;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_004610;refseq.name2=TCP10;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=167707827;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr6 167710043 . C T 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=21;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.557G>A;refseq.codonCoord=186;refseq.end=167710043;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_004610;refseq.name2=TCP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G186E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-20;refseq.start=167710043;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/1 chr6 167711526 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=64.95;MQ=40.02;MQ0=71;OQ=5100.01;QD=11.38;RankSumP=0.435625;SB=-649.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.324T>C;refseq.codonCoord=108;refseq.end=167711526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_004610;refseq.name2=TCP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.D108D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=45;refseq.start=167711526;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 0/1 chr6 167711539 . T G 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.423660;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.311A>C;refseq.codonCoord=104;refseq.end=167711539;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_004610;refseq.name2=TCP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H104P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=32;refseq.start=167711539;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 1/0 chr6 168094973 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.chr_3=chr6;refseq.codingCoordStr_1=c.4069T>C;refseq.codingCoordStr_2=c.4066T>C;refseq.codingCoordStr_3=c.4021T>C;refseq.codonCoord_1=1357;refseq.codonCoord_2=1356;refseq.codonCoord_3=1341;refseq.end_1=168094973;refseq.end_2=168094973;refseq.end_3=168094973;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4211;refseq.mrnaCoord_2=4208;refseq.mrnaCoord_3=4163;refseq.name2_1=MLLT4;refseq.name2_2=MLLT4;refseq.name2_3=MLLT4;refseq.name_1=NM_001040000;refseq.name_2=NM_001040001;refseq.name_3=NM_005936;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1357P;refseq.proteinCoordStr_2=p.S1356P;refseq.proteinCoordStr_3=p.S1341P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=259;refseq.spliceDist_2=259;refseq.spliceDist_3=259;refseq.start_1=168094973;refseq.start_2=168094973;refseq.start_3=168094973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr6 168173197 . A T 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.238566;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.83A>T;refseq.codingCoordStr_2=c.83A>T;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=168173197;refseq.end_2=168173197;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=345;refseq.mrnaCoord_2=345;refseq.name2_1=KIF25;refseq.name2_2=KIF25;refseq.name_1=NM_005355;refseq.name_2=NM_030615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K28M;refseq.proteinCoordStr_2=p.K28M;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=168173197;refseq.start_2=168173197;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 0/1 chr6 168200650 . A G 10.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=136.95;QD=34.24;RankSumP=1.00000;SB=-92.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1422T>C;refseq.codingCoordStr_2=c.1626T>C;refseq.codonCoord_1=474;refseq.codonCoord_2=542;refseq.end_1=168200650;refseq.end_2=168200650;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1527;refseq.mrnaCoord_2=1691;refseq.name2_1=FRMD1;refseq.name2_2=FRMD1;refseq.name_1=NM_001122841;refseq.name_2=NM_024919;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A474A;refseq.proteinCoordStr_2=p.A542A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=219;refseq.spliceDist_2=219;refseq.start_1=168200650;refseq.start_2=168200650;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/1 chr6 168202694 . G C 270.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.27;MQ0=0;OQ=1016.05;QD=33.87;RankSumP=1.00000;SB=-306.41;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.1162C>G;refseq.codingCoordStr_2=c.1366C>G;refseq.codonCoord_1=388;refseq.codonCoord_2=456;refseq.end_1=168202694;refseq.end_2=168202694;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1267;refseq.mrnaCoord_2=1431;refseq.name2_1=FRMD1;refseq.name2_2=FRMD1;refseq.name_1=NM_001122841;refseq.name_2=NM_024919;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q388E;refseq.proteinCoordStr_2=p.Q456E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=168202694;refseq.start_2=168202694;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr6 168207251 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=180;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.63;MQ0=0;OQ=2987.68;QD=16.60;RankSumP=0.391463;SB=-1206.09;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.479G>A;refseq.codingCoordStr_2=c.683G>A;refseq.codonCoord_1=160;refseq.codonCoord_2=228;refseq.end_1=168207251;refseq.end_2=168207251;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=748;refseq.name2_1=FRMD1;refseq.name2_2=FRMD1;refseq.name_1=NM_001122841;refseq.name_2=NM_024919;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R160Q;refseq.proteinCoordStr_2=p.R228Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=168207251;refseq.start_2=168207251;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr6 168222411 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.82;MQ0=0;OQ=943.65;QD=12.10;RankSumP=0.148958;SB=-25.60;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.213G>A;refseq.codonCoord=71;refseq.end=168222411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_024919;refseq.name2=FRMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G71G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=168222411;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr6 168222417 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.53;MQ0=0;OQ=1188.67;QD=14.15;RankSumP=0.00488293;SB=-205.19;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.207C>T;refseq.codonCoord=69;refseq.end=168222417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_024919;refseq.name2=FRMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A69A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=168222417;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/0 chr6 168222453 . G A 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=5.57;MQ=98.81;MQ0=0;OQ=4140.86;QD=31.61;RankSumP=1.00000;SB=-1982.27;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.171C>T;refseq.codonCoord=57;refseq.end=168222453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_024919;refseq.name2=FRMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L57L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-43;refseq.start=168222453;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr6 169374178 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1973A>C;refseq.codonCoord=658;refseq.end=169374178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2221;refseq.name=NM_003247;refseq.name2=THBS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N658T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=41;refseq.start=169374178;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr6 169390692 . G A 306.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=13.24;MQ=98.39;MQ0=0;OQ=5981.14;QD=16.94;RankSumP=0.0794312;SB=-2033.01;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.354C>T;refseq.codonCoord=118;refseq.end=169390692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_003247;refseq.name2=THBS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N118N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-256;refseq.start=169390692;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr6 170469576 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=952;Dels=0.00;HRun=0;HaplotypeScore=24.09;MQ=97.15;MQ0=0;OQ=38601.69;QD=40.55;RankSumP=1.00000;SB=-18944.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr6;refseq.codingCoordStr=c.1173G>A;refseq.codonCoord=391;refseq.end=170469576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_032448;refseq.name2=FAM120B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T391T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-562;refseq.start=170469576;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/1 chr6 170469728 . A G 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.361675;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.1325A>G;refseq.codonCoord=442;refseq.end=170469728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1433;refseq.name=NM_032448;refseq.name2=FAM120B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D442G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-410;refseq.start=170469728;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr6 170704225 . G C 310.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.25;MQ0=0;OQ=4973.95;QD=42.88;RankSumP=1.00000;SB=-2139.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr6;refseq.codingCoordStr=c.31C>G;refseq.codonCoord=11;refseq.end=170704225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=118;refseq.name=NM_002793;refseq.name2=PSMB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P11A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-83;refseq.start=170704225;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr6 170712965 . A G 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.569148;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.156A>G;refseq.codingCoordStr_2=c.216A>G;refseq.codonCoord_1=52;refseq.codonCoord_2=72;refseq.end_1=170712965;refseq.end_2=170712965;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=293;refseq.mrnaCoord_2=495;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q52Q;refseq.proteinCoordStr_2=p.Q72Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=162;refseq.spliceDist_2=162;refseq.start_1=170712965;refseq.start_2=170712965;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chr6 170712968 . G A 0.04 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=1;HaplotypeScore=9.80;MQ=86.16;MQ0=2;OQ=53.28;QD=1.72;SB=-24.59;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.159G>A;refseq.codingCoordStr_2=c.219G>A;refseq.codonCoord_1=53;refseq.codonCoord_2=73;refseq.end_1=170712968;refseq.end_2=170712968;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=498;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q53Q;refseq.proteinCoordStr_2=p.Q73Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=165;refseq.spliceDist_2=165;refseq.start_1=170712968;refseq.start_2=170712968;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=gatk GT:AD:DP:GL:GQ 0/1:23,8:23:-15.54,-6.93,-72.22:86.12 chr6 170712971 . A G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.665293;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.222A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=74;refseq.end_1=170712971;refseq.end_2=170712971;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=299;refseq.mrnaCoord_2=501;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q54Q;refseq.proteinCoordStr_2=p.Q74Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.start_1=170712971;refseq.start_2=170712971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 0/1 chr6 170712977 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=1;HaplotypeScore=4.49;MQ=84.71;MQ0=2;OQ=72.22;QD=2.58;SB=11.06;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.168G>A;refseq.codingCoordStr_2=c.228G>A;refseq.codonCoord_1=56;refseq.codonCoord_2=76;refseq.end_1=170712977;refseq.end_2=170712977;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=305;refseq.mrnaCoord_2=507;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q56Q;refseq.proteinCoordStr_2=p.Q76Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=174;refseq.spliceDist_2=174;refseq.start_1=170712977;refseq.start_2=170712977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:22,6:16:-15.32,-4.82,-46.92:99 chr6 170713001 . G A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=1;RankSumP=0.452381;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.192G>A;refseq.codingCoordStr_2=c.252G>A;refseq.codonCoord_1=64;refseq.codonCoord_2=84;refseq.end_1=170713001;refseq.end_2=170713001;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_2=531;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q64Q;refseq.proteinCoordStr_2=p.Q84Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=198;refseq.spliceDist_2=198;refseq.start_1=170713001;refseq.start_2=170713001;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 1/0 chr6 170713007 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.216176;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.198G>A;refseq.codingCoordStr_2=c.258G>A;refseq.codonCoord_1=66;refseq.codonCoord_2=86;refseq.end_1=170713007;refseq.end_2=170713007;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=335;refseq.mrnaCoord_2=537;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q66Q;refseq.proteinCoordStr_2=p.Q86Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=204;refseq.spliceDist_2=204;refseq.start_1=170713007;refseq.start_2=170713007;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 1/0 chr6 170720718 . T C 453.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.78;MQ0=0;OQ=5669.93;QD=41.09;RankSumP=1.00000;SB=-2608.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.711T>C;refseq.codingCoordStr_2=c.771T>C;refseq.codonCoord_1=237;refseq.codonCoord_2=257;refseq.end_1=170720718;refseq.end_2=170720718;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=848;refseq.mrnaCoord_2=1050;refseq.name2_1=TBP;refseq.name2_2=TBP;refseq.name_1=NM_001172085;refseq.name_2=NM_003194;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N237N;refseq.proteinCoordStr_2=p.N257N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=170720718;refseq.start_2=170720718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr6 170734624 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr6;refseq.chr_2=chr6;refseq.codingCoordStr_1=c.420T>G;refseq.codingCoordStr_2=c.420T>G;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=170734624;refseq.end_2=170734624;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=499;refseq.mrnaCoord_2=499;refseq.name2_1=PDCD2;refseq.name2_2=PDCD2;refseq.name_1=NM_002598;refseq.name_2=NM_144781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C140W;refseq.proteinCoordStr_2=p.C140W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.start_1=170734624;refseq.start_2=170734624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr7 557622 . G A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=26.07;MQ0=10;OQ=50.14;QD=2.79;RankSumP=0.561573;SB=-49.56;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_1=c.903C>T;refseq.codingCoordStr_2=c.903C>T;refseq.codingCoordStr_3=c.903C>T;refseq.codingCoordStr_4=c.903C>T;refseq.codingCoordStr_5=c.903C>T;refseq.codingCoordStr_6=c.903C>T;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.codonCoord_3=301;refseq.codonCoord_4=301;refseq.codonCoord_5=301;refseq.codonCoord_6=301;refseq.end_1=557622;refseq.end_2=557622;refseq.end_3=557622;refseq.end_4=557622;refseq.end_5=557622;refseq.end_6=557622;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=947;refseq.mrnaCoord_3=1057;refseq.mrnaCoord_4=1078;refseq.mrnaCoord_5=1018;refseq.mrnaCoord_6=1036;refseq.name2_1=PRKAR1B;refseq.name2_2=PRKAR1B;refseq.name2_3=PRKAR1B;refseq.name2_4=PRKAR1B;refseq.name2_5=PRKAR1B;refseq.name2_6=PRKAR1B;refseq.name_1=NM_001164758;refseq.name_2=NM_001164759;refseq.name_3=NM_001164760;refseq.name_4=NM_001164761;refseq.name_5=NM_001164762;refseq.name_6=NM_002735;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.S301S;refseq.proteinCoordStr_2=p.S301S;refseq.proteinCoordStr_3=p.S301S;refseq.proteinCoordStr_4=p.S301S;refseq.proteinCoordStr_5=p.S301S;refseq.proteinCoordStr_6=p.S301S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.spliceDist_5=12;refseq.spliceDist_6=12;refseq.start_1=557622;refseq.start_2=557622;refseq.start_3=557622;refseq.start_4=557622;refseq.start_5=557622;refseq.start_6=557622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;set=soap-filterIngatk GT 1/0 chr7 585464 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_1=c.846T>C;refseq.codingCoordStr_2=c.846T>C;refseq.codingCoordStr_3=c.846T>C;refseq.codingCoordStr_4=c.846T>C;refseq.codingCoordStr_5=c.846T>C;refseq.codingCoordStr_6=c.846T>C;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.codonCoord_3=282;refseq.codonCoord_4=282;refseq.codonCoord_5=282;refseq.codonCoord_6=282;refseq.end_1=585464;refseq.end_2=585464;refseq.end_3=585464;refseq.end_4=585464;refseq.end_5=585464;refseq.end_6=585464;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=890;refseq.mrnaCoord_3=1000;refseq.mrnaCoord_4=1021;refseq.mrnaCoord_5=961;refseq.mrnaCoord_6=979;refseq.name2_1=PRKAR1B;refseq.name2_2=PRKAR1B;refseq.name2_3=PRKAR1B;refseq.name2_4=PRKAR1B;refseq.name2_5=PRKAR1B;refseq.name2_6=PRKAR1B;refseq.name_1=NM_001164758;refseq.name_2=NM_001164759;refseq.name_3=NM_001164760;refseq.name_4=NM_001164761;refseq.name_5=NM_001164762;refseq.name_6=NM_002735;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I282I;refseq.proteinCoordStr_2=p.I282I;refseq.proteinCoordStr_3=p.I282I;refseq.proteinCoordStr_4=p.I282I;refseq.proteinCoordStr_5=p.I282I;refseq.proteinCoordStr_6=p.I282I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.spliceDist_5=-46;refseq.spliceDist_6=-46;refseq.start_1=585464;refseq.start_2=585464;refseq.start_3=585464;refseq.start_4=585464;refseq.start_5=585464;refseq.start_6=585464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;refseq.variantCodon_6=ATC;set=soap GT 1/1 chr7 763090 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1403T>C;refseq.codonCoord=468;refseq.end=763090;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1423;refseq.name=NM_017802;refseq.name2=HEATR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L468P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-68;refseq.start=763090;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 864018 . A G 161.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.51;MQ0=0;OQ=4955.00;QD=35.91;RankSumP=1.00000;SB=-1445.25;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1422A>G;refseq.codingCoordStr_2=c.1113A>G;refseq.codingCoordStr_3=c.1173A>G;refseq.codonCoord_1=474;refseq.codonCoord_2=371;refseq.codonCoord_3=391;refseq.end_1=864018;refseq.end_2=864018;refseq.end_3=864018;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1192;refseq.mrnaCoord_3=1305;refseq.name2_1=SUN1;refseq.name2_2=SUN1;refseq.name2_3=SUN1;refseq.name_1=NM_001130965;refseq.name_2=NM_001171944;refseq.name_3=NM_025154;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T474T;refseq.proteinCoordStr_2=p.T371T;refseq.proteinCoordStr_3=p.T391T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=864018;refseq.start_2=864018;refseq.start_3=864018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr7 892220 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.157T>G;refseq.codonCoord=53;refseq.end=892220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_015949;refseq.name2=GET4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y53D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=892220;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr7 892243 . G A 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=97.11;MQ0=0;OQ=3341.44;QD=26.95;RankSumP=1.00000;SB=-929.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.180G>A;refseq.codonCoord=60;refseq.end=892243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_015949;refseq.name2=GET4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=25;refseq.start=892243;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 897134 . G A 104.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=518;Dels=0.00;HRun=0;HaplotypeScore=17.78;MQ=98.80;MQ0=0;OQ=8615.97;QD=16.63;RankSumP=0.190511;SB=-3252.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.510G>A;refseq.codonCoord=170;refseq.end=897134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_015949;refseq.name2=GET4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A170A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=44;refseq.start=897134;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr7 898486 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=98.36;MQ0=0;OQ=2142.81;QD=12.24;RankSumP=0.0683918;SB=-1021.41;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.651G>A;refseq.codonCoord=217;refseq.end=898486;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_015949;refseq.name2=GET4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T217T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=46;refseq.start=898486;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 905374 . G T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.00337445;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.918C>A;refseq.codonCoord=306;refseq.end=905374;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_006869;refseq.name2=ADAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y306*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=51;refseq.start=905374;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr7 906707 . C T 393.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=94.06;MQ0=0;OQ=3161.56;QD=41.06;RankSumP=1.00000;SB=-845.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.721G>A;refseq.codonCoord=241;refseq.end=906707;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_006869;refseq.name2=ADAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G241S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-12;refseq.start=906707;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr7 990615 . G C 22.46 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;QD=2.04;SB=-34.87;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.216G>C;refseq.codonCoord=72;refseq.end=990615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_017781;refseq.name2=CYP2W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G72G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=42;refseq.start=990615;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:9,2:11:-8.84,-3.31,-44.75:55.27 chr7 994974 . C T 157.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=282.29;QD=16.61;RankSumP=0.213911;SB=-46.54;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1463C>T;refseq.codonCoord=488;refseq.end=994974;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1476;refseq.name=NM_017781;refseq.name2=CYP2W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P488L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=178;refseq.start=994974;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr7 1063800 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=455.90;QD=12.32;RankSumP=0.136435;SB=-243.23;SecondBestBaseQ=29;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_4=c.123C>T;refseq.codonCoord_4=41;refseq.end_1=1133408;refseq.end_2=1133408;refseq.end_3=1133408;refseq.end_4=1063800;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=134;refseq.name2_1=C7orf50;refseq.name2_2=C7orf50;refseq.name2_3=C7orf50;refseq.name2_4=GPR146;refseq.name_1=NM_001134395;refseq.name_2=NM_001134396;refseq.name_3=NM_032350;refseq.name_4=NM_138445;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G41G;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGC;refseq.spliceDist_4=134;refseq.start_1=1016316;refseq.start_2=1016316;refseq.start_3=1016316;refseq.start_4=1063800;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGT;set=Intersection GT 0/1 chr7 1098164 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_4=c.274A>C;refseq.codingCoordStr_5=c.274A>C;refseq.codingCoordStr_6=c.274A>C;refseq.codonCoord_4=92;refseq.codonCoord_5=92;refseq.codonCoord_6=92;refseq.end_1=1133408;refseq.end_2=1133408;refseq.end_3=1133408;refseq.end_4=1098164;refseq.end_5=1098164;refseq.end_6=1098164;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_4=1158;refseq.mrnaCoord_5=831;refseq.mrnaCoord_6=1034;refseq.name2_1=C7orf50;refseq.name2_2=C7orf50;refseq.name2_3=C7orf50;refseq.name2_4=GPER;refseq.name2_5=GPER;refseq.name2_6=GPER;refseq.name_1=NM_001134395;refseq.name_2=NM_001134396;refseq.name_3=NM_032350;refseq.name_4=NM_001039966;refseq.name_5=NM_001098201;refseq.name_6=NM_001505;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.T92P;refseq.proteinCoordStr_5=p.T92P;refseq.proteinCoordStr_6=p.T92P;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.spliceDist_4=596;refseq.spliceDist_5=596;refseq.spliceDist_6=596;refseq.start_1=1016316;refseq.start_2=1016316;refseq.start_3=1016316;refseq.start_4=1098164;refseq.start_5=1098164;refseq.start_6=1098164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 0/1 chr7 1098542 . G C 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.500753;SecondBestBaseQ=13;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_4=c.652G>C;refseq.codingCoordStr_5=c.652G>C;refseq.codingCoordStr_6=c.652G>C;refseq.codonCoord_4=218;refseq.codonCoord_5=218;refseq.codonCoord_6=218;refseq.end_1=1133408;refseq.end_2=1133408;refseq.end_3=1133408;refseq.end_4=1098542;refseq.end_5=1098542;refseq.end_6=1098542;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_4=1536;refseq.mrnaCoord_5=1209;refseq.mrnaCoord_6=1412;refseq.name2_1=C7orf50;refseq.name2_2=C7orf50;refseq.name2_3=C7orf50;refseq.name2_4=GPER;refseq.name2_5=GPER;refseq.name2_6=GPER;refseq.name_1=NM_001134395;refseq.name_2=NM_001134396;refseq.name_3=NM_032350;refseq.name_4=NM_001039966;refseq.name_5=NM_001098201;refseq.name_6=NM_001505;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.E218Q;refseq.proteinCoordStr_5=p.E218Q;refseq.proteinCoordStr_6=p.E218Q;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.spliceDist_4=974;refseq.spliceDist_5=974;refseq.spliceDist_6=974;refseq.start_1=1016316;refseq.start_2=1016316;refseq.start_3=1016316;refseq.start_4=1098542;refseq.start_5=1098542;refseq.start_6=1098542;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_6=CAG;set=soap GT 0/1 chr7 1448445 . C A 139.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=6.48;MQ=98.01;MQ0=0;OQ=3211.16;QD=34.53;RankSumP=1.00000;SB=-1452.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1620G>T;refseq.codonCoord=540;refseq.end=1448445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1767;refseq.name=NM_182924;refseq.name2=MICALL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A540A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-92;refseq.start=1448445;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 1448642 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1423T>C;refseq.codonCoord=475;refseq.end=1448642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_182924;refseq.name2=MICALL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S475P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=1448642;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 1451098 . A G 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=23;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1134T>C;refseq.codonCoord=378;refseq.end=1451098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_182924;refseq.name2=MICALL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G378G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-285;refseq.start=1451098;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/1 chr7 1553188 . T C 862.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=92.90;MQ0=0;QD=26.12;RankSumP=1.00000;SB=-65.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1168A>G;refseq.codonCoord=390;refseq.end=1553188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1485;refseq.name=NM_001097620;refseq.name2=TMEM184A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S390G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=156;refseq.start=1553188;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 1/1 chr7 1904527 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.20;MQ0=0;OQ=1059.76;QD=13.08;RankSumP=0.408424;SB=-346.40;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1833C>T;refseq.codingCoordStr_2=c.1833C>T;refseq.codingCoordStr_3=c.1833C>T;refseq.codonCoord_1=611;refseq.codonCoord_2=611;refseq.codonCoord_3=611;refseq.end_1=1904527;refseq.end_2=1904527;refseq.end_3=1904527;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2099;refseq.mrnaCoord_2=2096;refseq.mrnaCoord_3=2136;refseq.name2_1=MAD1L1;refseq.name2_2=MAD1L1;refseq.name2_3=MAD1L1;refseq.name_1=NM_001013836;refseq.name_2=NM_001013837;refseq.name_3=NM_003550;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A611A;refseq.proteinCoordStr_2=p.A611A;refseq.proteinCoordStr_3=p.A611A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=1904527;refseq.start_2=1904527;refseq.start_3=1904527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr7 1942958 . C T 99.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=97.93;MQ0=0;OQ=649.48;QD=18.04;RankSumP=0.257529;SB=-45.66;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1698G>A;refseq.codingCoordStr_2=c.1698G>A;refseq.codingCoordStr_3=c.1698G>A;refseq.codonCoord_1=566;refseq.codonCoord_2=566;refseq.codonCoord_3=566;refseq.end_1=1942958;refseq.end_2=1942958;refseq.end_3=1942958;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1964;refseq.mrnaCoord_2=1961;refseq.mrnaCoord_3=2001;refseq.name2_1=MAD1L1;refseq.name2_2=MAD1L1;refseq.name2_3=MAD1L1;refseq.name_1=NM_001013836;refseq.name_2=NM_001013837;refseq.name_3=NM_003550;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A566A;refseq.proteinCoordStr_2=p.A566A;refseq.proteinCoordStr_3=p.A566A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=102;refseq.spliceDist_2=102;refseq.spliceDist_3=102;refseq.start_1=1942958;refseq.start_2=1942958;refseq.start_3=1942958;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr7 2263532 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.52;MQ0=0;OQ=2304.34;QD=29.54;RankSumP=1.00000;SB=-1102.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1128T>C;refseq.codonCoord=376;refseq.end=2263532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_013321;refseq.name2=SNX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I376I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=2263532;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr7 2270512 . T C 302.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.88;MQ0=0;OQ=7891.73;QD=35.39;RankSumP=1.00000;SB=-3138.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.729A>G;refseq.codonCoord=243;refseq.end=2270512;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_013321;refseq.name2=SNX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A243A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-54;refseq.start=2270512;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr7 2578404 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=12.26;MQ=98.29;MQ0=0;OQ=4542.82;QD=16.58;RankSumP=0.0712148;SB=-1087.20;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.264T>C;refseq.codingCoordStr_2=c.312T>C;refseq.codonCoord_1=88;refseq.codonCoord_2=104;refseq.end_1=2578404;refseq.end_2=2578404;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=448;refseq.mrnaCoord_2=496;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T88T;refseq.proteinCoordStr_2=p.T104T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=2578404;refseq.start_2=2578404;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr7 2611045 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=10.53;MQ=98.48;MQ0=0;OQ=1345.94;QD=10.12;RankSumP=0.474457;SB=-660.98;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1589C>T;refseq.codingCoordStr_2=c.1637C>T;refseq.codonCoord_1=530;refseq.codonCoord_2=546;refseq.end_1=2611045;refseq.end_2=2611045;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1773;refseq.mrnaCoord_2=1821;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A530V;refseq.proteinCoordStr_2=p.A546V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=2611045;refseq.start_2=2611045;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr7 2611133 . G T 108.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=98.95;MQ0=0;OQ=2168.27;QD=12.98;RankSumP=0.267965;SB=-757.30;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1677G>T;refseq.codingCoordStr_2=c.1725G>T;refseq.codonCoord_1=559;refseq.codonCoord_2=575;refseq.end_1=2611133;refseq.end_2=2611133;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1861;refseq.mrnaCoord_2=1909;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V559V;refseq.proteinCoordStr_2=p.V575V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=2611133;refseq.start_2=2611133;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr7 2612078 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=11.14;MQ=98.54;MQ0=0;OQ=530.55;QD=12.34;RankSumP=0.342569;SB=-281.45;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1738A>G;refseq.codingCoordStr_2=c.1786A>G;refseq.codonCoord_1=580;refseq.codonCoord_2=596;refseq.end_1=2612078;refseq.end_2=2612078;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1922;refseq.mrnaCoord_2=1970;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T580A;refseq.proteinCoordStr_2=p.T596A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=2612078;refseq.start_2=2612078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr7 2613322 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=502;Dels=0.00;HRun=1;HaplotypeScore=12.02;MQ=98.40;MQ0=0;OQ=8925.70;QD=17.78;RankSumP=0.00529642;SB=-3009.71;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1856G>A;refseq.codingCoordStr_2=c.1904G>A;refseq.codonCoord_1=619;refseq.codonCoord_2=635;refseq.end_1=2613322;refseq.end_2=2613322;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2040;refseq.mrnaCoord_2=2088;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R619K;refseq.proteinCoordStr_2=p.R635K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=2613322;refseq.start_2=2613322;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=filterInsoap-gatk GT 1/0 chr7 2616230 . T G 191.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=6.85;MQ=98.72;MQ0=0;OQ=3169.99;QD=13.26;RankSumP=0.270976;SB=-1277.10;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1948T>G;refseq.codingCoordStr_2=c.1996T>G;refseq.codonCoord_1=650;refseq.codonCoord_2=666;refseq.end_1=2616230;refseq.end_2=2616230;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2132;refseq.mrnaCoord_2=2180;refseq.name2_1=IQCE;refseq.name2_2=IQCE;refseq.name_1=NM_001100390;refseq.name_2=NM_152558;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L650V;refseq.proteinCoordStr_2=p.L666V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=2616230;refseq.start_2=2616230;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr7 2718585 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=96.94;MQ0=0;OQ=494.62;QD=22.48;RankSumP=0.570733;SB=-224.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1044C>T;refseq.codonCoord=348;refseq.end=2718585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_133463;refseq.name2=AMZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A348A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=96;refseq.start=2718585;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr7 2737675 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.812T>G;refseq.codonCoord=271;refseq.end=2737675;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=976;refseq.name=NM_007353;refseq.name2=GNA12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V271G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=236;refseq.start=2737675;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr7 2932920 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1786T>G;refseq.codonCoord=596;refseq.end=2932920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2190;refseq.name=NM_032415;refseq.name2=CARD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.F596V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-22;refseq.start=2932920;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr7 2936206 . G A 271.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.95;MQ0=0;OQ=2117.73;QD=16.81;RankSumP=0.461126;SB=-660.06;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1599C>T;refseq.codonCoord=533;refseq.end=2936206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_032415;refseq.name2=CARD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D533D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=29;refseq.start=2936206;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr7 2940776 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1355A>C;refseq.codonCoord=452;refseq.end=2940776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1759;refseq.name=NM_032415;refseq.name2=CARD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.N452T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=14;refseq.start=2940776;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 2943293 . G A 285.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=12.72;MQ=98.52;MQ0=0;OQ=4167.64;QD=18.28;RankSumP=0.0353148;SB=-1154.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1245C>T;refseq.codonCoord=415;refseq.end=2943293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1649;refseq.name=NM_032415;refseq.name2=CARD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D415D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-97;refseq.start=2943293;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr7 3973570 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1524A>C;refseq.codonCoord=508;refseq.end=3973570;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1663;refseq.name=NM_152744;refseq.name2=SDK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K508N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-23;refseq.start=3973570;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 3993470 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=16.07;MQ=98.81;MQ0=0;OQ=15094.90;QD=24.99;RankSumP=0.463130;SB=-6156.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2121C>G;refseq.codonCoord=707;refseq.end=3993470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2260;refseq.name=NM_152744;refseq.name2=SDK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L707L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-11;refseq.start=3993470;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr7 4083191 . G A 147.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=11.54;MQ=98.31;MQ0=0;OQ=4503.42;QD=18.01;RankSumP=0.139465;SB=-1917.83;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3046G>A;refseq.codonCoord=1016;refseq.end=4083191;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3185;refseq.name=NM_152744;refseq.name2=SDK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1016N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=36;refseq.start=4083191;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr7 4138532 . C T 297.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.49;MQ0=0;OQ=2263.83;QD=19.52;RankSumP=0.0996986;SB=-1033.53;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.4179C>T;refseq.codonCoord_2=1393;refseq.end_1=4138532;refseq.end_2=4138532;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=463;refseq.mrnaCoord_2=4318;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S1393S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=4138532;refseq.start_2=4138532;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr7 4155601 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.53;MQ0=0;OQ=1751.00;QD=21.10;RankSumP=0.392083;SB=-608.34;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.4605G>C;refseq.codonCoord_2=1535;refseq.end_1=4155601;refseq.end_2=4155601;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=4744;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A1535A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=4155601;refseq.start_2=4155601;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr7 4180403 . T C 140.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=98.31;MQ0=0;OQ=2085.65;QD=12.41;RankSumP=0.124166;SB=-801.11;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.4824T>C;refseq.codonCoord_2=1608;refseq.end_1=4180403;refseq.end_2=4180403;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1108;refseq.mrnaCoord_2=4963;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N1608N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=4180403;refseq.start_2=4180403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr7 4180466 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.57;MQ0=0;OQ=1370.78;QD=11.33;RankSumP=0.00371786;SB=-654.61;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.4887T>C;refseq.codonCoord_2=1629;refseq.end_1=4180466;refseq.end_2=4180466;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1171;refseq.mrnaCoord_2=5026;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1629T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=4180466;refseq.start_2=4180466;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 1/0 chr7 4180501 . A G 103.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.67;MQ0=0;OQ=1157.59;QD=12.86;RankSumP=0.0249651;SB=-379.29;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.4922A>G;refseq.codonCoord_2=1641;refseq.end_1=4180501;refseq.end_2=4180501;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1206;refseq.mrnaCoord_2=5061;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H1641R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=4180501;refseq.start_2=4180501;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr7 4214347 . A C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500000;SecondBestBaseQ=13;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.5305A>C;refseq.codonCoord_2=1769;refseq.end_1=4214347;refseq.end_2=4214347;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1589;refseq.mrnaCoord_2=5444;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1769P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.start_1=4214347;refseq.start_2=4214347;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr7 4274888 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1007;Dels=0.00;HRun=0;HaplotypeScore=46.13;MQ=98.86;MQ0=0;OQ=19444.34;QD=19.31;RankSumP=0.000870921;SB=-7142.52;SecondBestBaseQ=29;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.*3346C>T;refseq.end_1=4274888;refseq.end_2=4274888;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2843;refseq.mrnaCoord_2=10127;refseq.name2_1=SDK1;refseq.name2_2=SDK1;refseq.name_1=NR_027816;refseq.name_2=NM_152744;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr3;refseq.spliceDist_1=53;refseq.spliceDist_2=-270;refseq.start_1=4274888;refseq.start_2=4274888;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=filterInsoap-gatk GT 0/1 chr7 4747040 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.09;MQ0=0;OQ=502.64;QD=12.57;RankSumP=0.0928388;SB=-198.20;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.606G>T;refseq.codonCoord=202;refseq.end=4747040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_001037165;refseq.name2=FOXK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T202T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=46;refseq.start=4747040;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr7 4761542 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr7;refseq.codingCoordStr=c.1050+2;refseq.end=4761542;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001037165;refseq.name2=FOXK1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=4761542;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr7 4807996 . T C 16.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=77.44;QD=19.36;RankSumP=1.00000;SB=-41.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2656A>G;refseq.codonCoord=886;refseq.end=4807996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2829;refseq.name=NM_018059;refseq.name2=RADIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S886G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=157;refseq.start=4807996;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr7 4811838 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=98.90;MQ0=0;OQ=1002.59;QD=12.08;RankSumP=0.298820;SB=-454.71;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2175A>C;refseq.codonCoord=725;refseq.end=4811838;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2348;refseq.name=NM_018059;refseq.name2=RADIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A725A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=36;refseq.start=4811838;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 4840946 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=95.02;MQ0=0;OQ=404.00;QD=12.63;RankSumP=0.721019;SB=-77.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1234C>G;refseq.codonCoord=412;refseq.end=4840946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1407;refseq.name=NM_018059;refseq.name2=RADIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H412D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-183;refseq.start=4840946;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr7 4842583 . C T 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=142.05;QD=10.93;RankSumP=0.133838;SB=-76.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.715G>A;refseq.codonCoord=239;refseq.end=4842583;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_018059;refseq.name2=RADIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D239N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-69;refseq.start=4842583;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr7 4883760 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.72974e-08;SecondBestBaseQ=9;refseq.chr=chr7;refseq.codingCoordStr=c.535+2;refseq.end=4883760;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_018059;refseq.name2=RADIL;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=4883760;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr7 5063480 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=5063480;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=5063480;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 5063484 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=541;Dels=0.00;HRun=0;HaplotypeScore=64.20;MQ=72.56;MQ0=135;OQ=5546.88;QD=10.25;RankSumP=0.359102;SB=-1282.31;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.48T>C;refseq.codonCoord=16;refseq.end=5063484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D16D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=33;refseq.start=5063484;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/0 chr7 5070801 . G A 204.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=99.00;MQ0=0;OQ=1321.42;QD=14.68;RankSumP=0.304108;SB=-649.62;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=5070801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1707;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T396T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=950;refseq.start=5070801;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 5070885 . G A 235.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1845.96;QD=16.48;RankSumP=0.333479;SB=-836.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1272G>A;refseq.codonCoord=424;refseq.end=5070885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1791;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T424T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1034;refseq.start=5070885;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 5071199 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1586A>C;refseq.codonCoord=529;refseq.end=5071199;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2105;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.H529P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1348;refseq.start=5071199;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 5071659 . C T 322.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4988.47;QD=42.64;RankSumP=1.00000;SB=-2185.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2046C>T;refseq.codonCoord=682;refseq.end=5071659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2565;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.N682N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1808;refseq.start=5071659;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 5071734 . C T 120.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=1901.29;QD=20.23;RankSumP=0.420655;SB=-572.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2121C>T;refseq.codonCoord=707;refseq.end=5071734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2640;refseq.name=NM_021163;refseq.name2=RBAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.N707N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1883;refseq.start=5071734;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr7 5220753 . C G 78.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.89;MQ0=0;OQ=18400.83;QD=48.30;RankSumP=1.00000;SB=-7907.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.273C>G;refseq.codingCoordStr_2=c.219C>G;refseq.codingCoordStr_3=c.96C>G;refseq.codingCoordStr_4=c.273C>G;refseq.codingCoordStr_5=c.219C>G;refseq.codonCoord_1=91;refseq.codonCoord_2=73;refseq.codonCoord_3=32;refseq.codonCoord_4=91;refseq.codonCoord_5=73;refseq.end_1=5220753;refseq.end_2=5220753;refseq.end_3=5220753;refseq.end_4=5220753;refseq.end_5=5220753;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=435;refseq.mrnaCoord_3=328;refseq.mrnaCoord_4=489;refseq.mrnaCoord_5=435;refseq.name2_1=WIPI2;refseq.name2_2=WIPI2;refseq.name2_3=WIPI2;refseq.name2_4=WIPI2;refseq.name2_5=WIPI2;refseq.name_1=NM_001033518;refseq.name_2=NM_001033519;refseq.name_3=NM_001033520;refseq.name_4=NM_015610;refseq.name_5=NM_016003;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V91V;refseq.proteinCoordStr_2=p.V73V;refseq.proteinCoordStr_3=p.V32V;refseq.proteinCoordStr_4=p.V91V;refseq.proteinCoordStr_5=p.V73V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=-109;refseq.spliceDist_4=62;refseq.spliceDist_5=62;refseq.start_1=5220753;refseq.start_2=5220753;refseq.start_3=5220753;refseq.start_4=5220753;refseq.start_5=5220753;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/1 chr7 5233456 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.968T>C;refseq.codingCoordStr_2=c.914T>C;refseq.codingCoordStr_3=c.791T>C;refseq.codingCoordStr_4=c.968T>C;refseq.codingCoordStr_5=c.914T>C;refseq.codonCoord_1=323;refseq.codonCoord_2=305;refseq.codonCoord_3=264;refseq.codonCoord_4=323;refseq.codonCoord_5=305;refseq.end_1=5233456;refseq.end_2=5233456;refseq.end_3=5233456;refseq.end_4=5233456;refseq.end_5=5233456;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1184;refseq.mrnaCoord_2=1130;refseq.mrnaCoord_3=1023;refseq.mrnaCoord_4=1184;refseq.mrnaCoord_5=1130;refseq.name2_1=WIPI2;refseq.name2_2=WIPI2;refseq.name2_3=WIPI2;refseq.name2_4=WIPI2;refseq.name2_5=WIPI2;refseq.name_1=NM_001033518;refseq.name_2=NM_001033519;refseq.name_3=NM_001033520;refseq.name_4=NM_015610;refseq.name_5=NM_016003;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V323A;refseq.proteinCoordStr_2=p.V305A;refseq.proteinCoordStr_3=p.V264A;refseq.proteinCoordStr_4=p.V323A;refseq.proteinCoordStr_5=p.V305A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.spliceDist_5=-46;refseq.start_1=5233456;refseq.start_2=5233456;refseq.start_3=5233456;refseq.start_4=5233456;refseq.start_5=5233456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=FilteredInAll GT 1/0 chr7 5233459 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.971G>C;refseq.codingCoordStr_2=c.917G>C;refseq.codingCoordStr_3=c.794G>C;refseq.codingCoordStr_4=c.971G>C;refseq.codingCoordStr_5=c.917G>C;refseq.codonCoord_1=324;refseq.codonCoord_2=306;refseq.codonCoord_3=265;refseq.codonCoord_4=324;refseq.codonCoord_5=306;refseq.end_1=5233459;refseq.end_2=5233459;refseq.end_3=5233459;refseq.end_4=5233459;refseq.end_5=5233459;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1187;refseq.mrnaCoord_2=1133;refseq.mrnaCoord_3=1026;refseq.mrnaCoord_4=1187;refseq.mrnaCoord_5=1133;refseq.name2_1=WIPI2;refseq.name2_2=WIPI2;refseq.name2_3=WIPI2;refseq.name2_4=WIPI2;refseq.name2_5=WIPI2;refseq.name_1=NM_001033518;refseq.name_2=NM_001033519;refseq.name_3=NM_001033520;refseq.name_4=NM_015610;refseq.name_5=NM_016003;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R324P;refseq.proteinCoordStr_2=p.R306P;refseq.proteinCoordStr_3=p.R265P;refseq.proteinCoordStr_4=p.R324P;refseq.proteinCoordStr_5=p.R306P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.spliceDist_5=-43;refseq.start_1=5233459;refseq.start_2=5233459;refseq.start_3=5233459;refseq.start_4=5233459;refseq.start_5=5233459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr7 5507295 . A C 152.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=95.49;MQ0=0;OQ=902.27;QD=20.98;RankSumP=1.00000;SB=-326.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1131T>G;refseq.codonCoord=377;refseq.end=5507295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_024963;refseq.name2=FBXL18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T377T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-651;refseq.start=5507295;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 5508183 . G A 148.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.68;MQ0=0;OQ=530.57;QD=14.74;RankSumP=0.298535;SB=-100.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.243C>T;refseq.codonCoord=81;refseq.end=5508183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_024963;refseq.name2=FBXL18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S81S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=5508183;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr7 5906633 . A C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.695652;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.222A>C;refseq.codonCoord=74;refseq.end=5906633;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_015622;refseq.name2=C7orf28A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T74T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=5906633;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 5916252 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.642890;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.759T>C;refseq.codonCoord=253;refseq.end=5916252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_015622;refseq.name2=C7orf28A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F253F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-22;refseq.start=5916252;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 1/0 chr7 5932693 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.703084;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2445C>T;refseq.codingCoordStr_2=c.2445C>T;refseq.codonCoord_1=815;refseq.codonCoord_2=815;refseq.end_1=5932693;refseq.end_2=5932693;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2716;refseq.mrnaCoord_2=2716;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F815F;refseq.proteinCoordStr_2=p.F815F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=5932693;refseq.start_2=5932693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=soap GT 1/0 chr7 5934491 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.682692;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2294T>C;refseq.codingCoordStr_2=c.2294T>C;refseq.codonCoord_1=765;refseq.codonCoord_2=765;refseq.end_1=5934491;refseq.end_2=5934491;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2565;refseq.mrnaCoord_2=2565;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M765T;refseq.proteinCoordStr_2=p.M765T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=5934491;refseq.start_2=5934491;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 0/1 chr7 5949538 . A G 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=15.86;MQ=15.50;MQ0=531;OQ=76.88;QD=0.14;RankSumP=0.198504;SB=-10.00;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1701T>C;refseq.codingCoordStr_2=c.1701T>C;refseq.codonCoord_1=567;refseq.codonCoord_2=567;refseq.end_1=5949538;refseq.end_2=5949538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1972;refseq.mrnaCoord_2=1972;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S567S;refseq.proteinCoordStr_2=p.S567S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=5949538;refseq.start_2=5949538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr7 5950079 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.274822;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1598T>G;refseq.codingCoordStr_2=c.1598T>G;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=5950079;refseq.end_2=5950079;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1869;refseq.mrnaCoord_2=1869;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F533C;refseq.proteinCoordStr_2=p.F533C;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=5950079;refseq.start_2=5950079;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=soap GT 0/1 chr7 5954522 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.471917;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1269T>C;refseq.codingCoordStr_2=c.1269T>C;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.end_1=5954522;refseq.end_2=5954522;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1540;refseq.mrnaCoord_2=1540;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I423I;refseq.proteinCoordStr_2=p.I423I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=5954522;refseq.start_2=5954522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr7 5964167 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.189762;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.677T>C;refseq.codingCoordStr_2=c.677T>C;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=5964167;refseq.end_2=5964167;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=948;refseq.mrnaCoord_2=948;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I226T;refseq.proteinCoordStr_2=p.I226T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=5964167;refseq.start_2=5964167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=soap GT 0/1 chr7 5971849 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=777;Dels=0.00;HRun=0;HaplotypeScore=7.36;MQ=5.74;MQ0=774;QD=0.06;RankSumP=0.545502;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.275G>A;refseq.codingCoordStr_2=c.275G>A;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=5971849;refseq.end_2=5971849;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=546;refseq.mrnaCoord_2=546;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R92H;refseq.proteinCoordStr_2=p.R92H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=5971849;refseq.start_2=5971849;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap-filterIngatk GT 0/1 chr7 5973062 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.379816;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.212C>G;refseq.codingCoordStr_2=c.212C>G;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=5973062;refseq.end_2=5973062;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=483;refseq.mrnaCoord_2=483;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T71S;refseq.proteinCoordStr_2=p.T71S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=5973062;refseq.start_2=5973062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=soap GT 0/1 chr7 5979575 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=733;Dels=0.00;HRun=0;HaplotypeScore=7.91;MQ=12.98;MQ0=718;OQ=402.70;QD=0.55;RankSumP=0.294310;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.2570G>C;refseq.codonCoord_2=857;refseq.end_1=5979575;refseq.end_2=5979575;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2652;refseq.mrnaCoord_2=2657;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G857A;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=125;refseq.spliceDist_2=125;refseq.start_1=5979575;refseq.start_2=5979575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr7 5983866 . T C 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.438509;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.2324A>G;refseq.codonCoord_2=775;refseq.end_1=5983866;refseq.end_2=5983866;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2406;refseq.mrnaCoord_2=2411;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N775S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=5983866;refseq.start_2=5983866;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=soap GT 1/0 chr7 5984775 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.580072;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.2253T>C;refseq.codonCoord_2=751;refseq.end_1=5984775;refseq.end_2=5984775;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2335;refseq.mrnaCoord_2=2340;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F751F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=5984775;refseq.start_2=5984775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=soap GT 0/1 chr7 5992970 . T C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.151813;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1952A>G;refseq.codonCoord_2=651;refseq.end_1=5992970;refseq.end_2=5992970;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2034;refseq.mrnaCoord_2=2039;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K651R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=5992970;refseq.start_2=5992970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=soap GT 1/0 chr7 5993301 . T C 375.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=11.67;MQ=62.44;MQ0=197;OQ=9756.70;QD=21.26;RankSumP=1.00000;SB=-1964.45;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1621A>G;refseq.codonCoord_2=541;refseq.end_1=5993301;refseq.end_2=5993301;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1703;refseq.mrnaCoord_2=1708;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K541E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-386;refseq.spliceDist_2=-386;refseq.start_1=5993301;refseq.start_2=5993301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr7 5993683 . T C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.141538;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1239A>G;refseq.codonCoord_2=413;refseq.end_1=5993683;refseq.end_2=5993683;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1321;refseq.mrnaCoord_2=1326;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K413K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.start_1=5993683;refseq.start_2=5993683;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=FilteredInAll GT 1/0 chr7 5993684 . T C 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0223788;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1238A>G;refseq.codonCoord_2=413;refseq.end_1=5993684;refseq.end_2=5993684;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=1325;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K413R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.start_1=5993684;refseq.start_2=5993684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=soap GT 1/0 chr7 6003506 . G C 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=9.54;MQ=97.02;MQ0=0;OQ=6251.26;QD=44.34;RankSumP=1.00000;SB=-2118.26;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.780C>G;refseq.codonCoord_2=260;refseq.end_1=6003506;refseq.end_2=6003506;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=867;refseq.name2_1=PMS2;refseq.name2_2=PMS2;refseq.name_1=NR_003085;refseq.name_2=NM_000535;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S260S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=6003506;refseq.start_2=6003506;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr7 6032987 . T C 142.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=1;HaplotypeScore=9.69;MQ=98.62;MQ0=0;OQ=6626.25;QD=18.25;RankSumP=0.433541;SB=-2625.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1659A>G;refseq.codingCoordStr_2=c.1662A>G;refseq.codonCoord_1=553;refseq.codonCoord_2=554;refseq.end_1=6032987;refseq.end_2=6032987;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1805;refseq.mrnaCoord_2=1808;refseq.name2_1=EIF2AK1;refseq.name2_2=EIF2AK1;refseq.name_1=NM_001134335;refseq.name_2=NM_014413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P553P;refseq.proteinCoordStr_2=p.P554P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=6032987;refseq.start_2=6032987;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr7 6171524 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=98.71;MQ0=0;OQ=2048.67;QD=11.71;RankSumP=0.000258165;SB=-711.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1032T>G;refseq.codonCoord=344;refseq.end=6171524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_004227;refseq.name2=CYTH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T344T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=60;refseq.start=6171524;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 0/1 chr7 6171563 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.993T>C;refseq.codonCoord=331;refseq.end=6171563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_004227;refseq.name2=CYTH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N331N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=21;refseq.start=6171563;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 6177093 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.604A>C;refseq.codonCoord=202;refseq.end=6177093;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_004227;refseq.name2=CYTH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T202P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=42;refseq.start=6177093;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 6336719 . C T 290.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=524;Dels=0.00;HRun=0;HaplotypeScore=13.27;MQ=98.50;MQ0=0;OQ=10363.06;QD=19.78;RankSumP=0.391518;SB=-3398.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.592G>A;refseq.codonCoord=198;refseq.end=6336719;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_001037163;refseq.name2=C7orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.V198M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=673;refseq.start=6336719;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr7 6336830 . C G 117.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=6.30;MQ=77.06;MQ0=5;OQ=1452.13;QD=12.20;RankSumP=0.437531;SB=-610.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.481G>C;refseq.codonCoord=161;refseq.end=6336830;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_001037163;refseq.name2=C7orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.V161L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=562;refseq.start=6336830;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr7 6336915 . T C 11.17 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=131;Dels=0.00;HRun=3;HaplotypeScore=9.77;MQ=93.84;MQ0=0;QD=0.09;RankSumP=0.00000;SB=194.64;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.396A>G;refseq.codonCoord=132;refseq.end=6336915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=864;refseq.name=NM_001037163;refseq.name2=C7orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.G132G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=477;refseq.start=6336915;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 6336931 . C T 122.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=95.49;MQ0=0;OQ=1782.27;QD=12.21;RankSumP=0.107338;SB=-871.76;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.380G>A;refseq.codonCoord=127;refseq.end=6336931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_001037163;refseq.name2=C7orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.R127Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=461;refseq.start=6336931;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr7 6337022 . C G 26 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=4.68831e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.289G>C;refseq.codonCoord=97;refseq.end=6337022;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_001037163;refseq.name2=C7orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=370;refseq.start=6337022;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr7 6472426 . T C 165.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=11.70;MQ=98.65;MQ0=0;OQ=9249.47;QD=40.04;RankSumP=1.00000;SB=-4555.99;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.405A>G;refseq.codonCoord_2=135;refseq.end_1=6475741;refseq.end_2=6472426;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=566;refseq.name2_1=KDELR2;refseq.name2_2=KDELR2;refseq.name_1=NM_001100603;refseq.name_2=NM_006854;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L135L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_2=54;refseq.start_1=6469342;refseq.start_2=6472426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr7 6614263 . T C 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=17;Dels=0.00;HRun=3;HaplotypeScore=2.58;MQ=98.44;MQ0=0;OQ=407.23;QD=23.95;RankSumP=1.00000;SB=-96.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1296T>C;refseq.codonCoord=432;refseq.end=6614263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_024067;refseq.name2=C7orf26;refseq.positionType=CDS;refseq.proteinCoordStr=p.H432H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=148;refseq.start=6614263;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr7 6764045 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.368867;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.212G>C;refseq.codingCoordStr_2=c.212G>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=6764045;refseq.end_2=6764045;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=483;refseq.mrnaCoord_2=483;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S71T;refseq.proteinCoordStr_2=p.S71T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=6764045;refseq.start_2=6764045;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 0/1 chr7 6765260 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.389235;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.275G>A;refseq.codingCoordStr_2=c.275G>A;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=6765260;refseq.end_2=6765260;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=546;refseq.mrnaCoord_2=546;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R92H;refseq.proteinCoordStr_2=p.R92H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=6765260;refseq.start_2=6765260;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap GT 1/0 chr7 6772930 . T C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.477519;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.677T>C;refseq.codingCoordStr_2=c.677T>C;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=6772930;refseq.end_2=6772930;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=948;refseq.mrnaCoord_2=948;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I226T;refseq.proteinCoordStr_2=p.I226T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=6772930;refseq.start_2=6772930;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 1/0 chr7 6782557 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.454532;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1269T>C;refseq.codingCoordStr_2=c.1269T>C;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.end_1=6782557;refseq.end_2=6782557;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1540;refseq.mrnaCoord_2=1540;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I423I;refseq.proteinCoordStr_2=p.I423I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=6782557;refseq.start_2=6782557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 1/0 chr7 6787033 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.211498;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1598G>T;refseq.codingCoordStr_2=c.1598G>T;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=6787033;refseq.end_2=6787033;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1869;refseq.mrnaCoord_2=1869;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C533F;refseq.proteinCoordStr_2=p.C533F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=6787033;refseq.start_2=6787033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 0/1 chr7 6787575 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.138803;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1701T>C;refseq.codingCoordStr_2=c.1701T>C;refseq.codonCoord_1=567;refseq.codonCoord_2=567;refseq.end_1=6787575;refseq.end_2=6787575;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1972;refseq.mrnaCoord_2=1972;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S567S;refseq.proteinCoordStr_2=p.S567S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=6787575;refseq.start_2=6787575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/0 chr7 6802784 . C T 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0714286;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2294C>T;refseq.codingCoordStr_2=c.2294C>T;refseq.codonCoord_1=765;refseq.codonCoord_2=765;refseq.end_1=6802784;refseq.end_2=6802784;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2565;refseq.mrnaCoord_2=2565;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T765M;refseq.proteinCoordStr_2=p.T765M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=6802784;refseq.start_2=6802784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap GT 0/1 chr7 6802788 . C T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.666667;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2298C>T;refseq.codingCoordStr_2=c.2298C>T;refseq.codonCoord_1=766;refseq.codonCoord_2=766;refseq.end_1=6802788;refseq.end_2=6802788;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2569;refseq.mrnaCoord_2=2569;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y766Y;refseq.proteinCoordStr_2=p.Y766Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=6802788;refseq.start_2=6802788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=FilteredInAll GT 0/1 chr7 6804531 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2445T>C;refseq.codingCoordStr_2=c.2445T>C;refseq.codonCoord_1=815;refseq.codonCoord_2=815;refseq.end_1=6804531;refseq.end_2=6804531;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2716;refseq.mrnaCoord_2=2716;refseq.name2_1=RSPH10B2;refseq.name2_2=RSPH10B;refseq.name_1=NM_001099697;refseq.name_2=NM_173565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F815F;refseq.proteinCoordStr_2=p.F815F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=6804531;refseq.start_2=6804531;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 1/0 chr7 6820941 . G A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.668974;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=6820941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_198097;refseq.name2=C7orf28B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F253F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-22;refseq.start=6820941;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr7 7379674 . T C 121.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.85;MQ0=0;OQ=1863.06;QD=14.79;RankSumP=0.411220;SB=-919.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2388A>G;refseq.codonCoord=796;refseq.end=7379674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2505;refseq.name=NM_001037763;refseq.name2=COL28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P796P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=29;refseq.start=7379674;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr7 7495551 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1158A>C;refseq.codonCoord=386;refseq.end=7495551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1275;refseq.name=NM_001037763;refseq.name2=COL28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G386G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=7495551;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr7 7537619 . G C 126.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.77;MQ0=0;OQ=8198.79;QD=47.95;RankSumP=1.00000;SB=-3613.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.566C>G;refseq.codonCoord=189;refseq.end=7537619;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001037763;refseq.name2=COL28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A189G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-116;refseq.start=7537619;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr7 7613176 . G T 383.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.82;MQ0=0;OQ=4159.50;QD=38.16;RankSumP=1.00000;SB=-587.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2556G>T;refseq.codonCoord=852;refseq.end=7613176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2864;refseq.name=NM_019005;refseq.name2=MIOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S852S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=25;refseq.start=7613176;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr7 7613212 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=143;Dels=0.00;HRun=3;HaplotypeScore=9.20;MQ=98.19;MQ0=0;OQ=3816.76;QD=26.69;RankSumP=1.00000;SB=-651.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2592A>G;refseq.codonCoord=864;refseq.end=7613212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2900;refseq.name=NM_019005;refseq.name2=MIOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T864T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=61;refseq.start=7613212;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 8092489 . C T 357.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.63;MQ0=0;OQ=12842.76;QD=41.70;RankSumP=1.00000;SB=-3911.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1440C>T;refseq.codonCoord=480;refseq.end=8092489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1999;refseq.name=NM_138426;refseq.name2=GLCCI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S480S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=142;refseq.start=8092489;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr7 12230515 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.420T>G;refseq.codingCoordStr_2=c.420T>G;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=12230515;refseq.end_2=12230515;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=626;refseq.mrnaCoord_2=820;refseq.name2_1=TMEM106B;refseq.name2_2=TMEM106B;refseq.name_1=NM_001134232;refseq.name_2=NM_018374;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R140R;refseq.proteinCoordStr_2=p.R140R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=12230515;refseq.start_2=12230515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 1/0 chr7 16789642 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=10.46;MQ=96.95;MQ0=0;OQ=1826.45;QD=16.76;RankSumP=0.412522;SB=-459.81;SecondBestBaseQ=32;refseq.chr=chr7;refseq.codingCoordStr=c.*1T>G;refseq.end=16789642;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=858;refseq.name=NM_014399;refseq.name2=TSPAN13;refseq.positionType=utr3;refseq.spliceDist=76;refseq.start=16789642;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr7 16879982 . A G 262.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=98.84;MQ0=0;OQ=5910.18;QD=19.97;RankSumP=0.493562;SB=-2358.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.120T>C;refseq.codonCoord=40;refseq.end=16879982;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_176813;refseq.name2=AGR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D40D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=11;refseq.start=16879982;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr7 17345234 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1260T>C;refseq.codonCoord=420;refseq.end=17345234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1873;refseq.name=NM_001621;refseq.name2=AHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.F420F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=100;refseq.start=17345234;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr7 17345635 . G A 252.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=5.63;MQ=98.93;MQ0=0;OQ=5601.02;QD=20.22;RankSumP=0.491186;SB=-2246.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1661G>A;refseq.codonCoord=554;refseq.end=17345635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2274;refseq.name=NM_001621;refseq.name2=AHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R554K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=501;refseq.start=17345635;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr7 19151277 . C T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.500000;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.234G>A;refseq.codonCoord=78;refseq.end=19151277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_152898;refseq.name2=FERD3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E78E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=293;refseq.start=19151277;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr7 19151286 . T C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.626307;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.225A>G;refseq.codonCoord=75;refseq.end=19151286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_152898;refseq.name2=FERD3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E75E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=284;refseq.start=19151286;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr7 20147242 . C G 189.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=98.84;MQ0=0;OQ=7281.74;QD=24.35;RankSumP=0.446632;SB=-2956.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2411G>C;refseq.codonCoord=804;refseq.end=20147242;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2720;refseq.name=NM_182762;refseq.name2=MACC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R804T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=65;refseq.start=20147242;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 20164965 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=477;Dels=0.00;HRun=1;HaplotypeScore=8.65;MQ=98.83;MQ0=0;OQ=9796.56;QD=20.54;RankSumP=0.194344;SB=-4126.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1544C>T;refseq.codonCoord=515;refseq.end=20164965;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1853;refseq.name=NM_182762;refseq.name2=MACC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S515L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-614;refseq.start=20164965;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr7 20165225 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=109;Dels=0.00;HRun=2;HaplotypeScore=6.11;MQ=98.16;MQ0=0;OQ=53.83;QD=0.49;RankSumP=0.00000;SB=164.56;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1284C>A;refseq.codonCoord=428;refseq.end=20165225;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1593;refseq.name=NM_182762;refseq.name2=MACC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D428E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-874;refseq.start=20165225;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr7 20167920 . G C 243.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=12.92;MQ=98.71;MQ0=0;OQ=8014.25;QD=23.16;RankSumP=0.498306;SB=-2400.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.91C>G;refseq.codonCoord=31;refseq.end=20167920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_182762;refseq.name2=MACC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L31V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-25;refseq.start=20167920;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr7 20410824 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1736A>G;refseq.codonCoord=579;refseq.end=20410824;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2441;refseq.name=NM_002214;refseq.name2=ITGB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E579G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=49;refseq.start=20410824;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr7 20664795 . A G 234.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=98.96;MQ0=0;OQ=2184.84;QD=14.76;RankSumP=0.166420;SB=-925.19;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1678A>G;refseq.codingCoordStr_2=c.343A>G;refseq.codingCoordStr_3=c.343A>G;refseq.codingCoordStr_4=c.343A>G;refseq.codonCoord_1=560;refseq.codonCoord_2=115;refseq.codonCoord_3=115;refseq.codonCoord_4=115;refseq.end_1=20664795;refseq.end_2=20664795;refseq.end_3=20664795;refseq.end_4=20664795;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1915;refseq.mrnaCoord_2=889;refseq.mrnaCoord_3=889;refseq.mrnaCoord_4=889;refseq.name2_1=ABCB5;refseq.name2_2=ABCB5;refseq.name2_3=ABCB5;refseq.name2_4=ABCB5;refseq.name_1=NM_001163941;refseq.name_2=NM_001163942;refseq.name_3=NM_001163993;refseq.name_4=NM_178559;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K560E;refseq.proteinCoordStr_2=p.K115E;refseq.proteinCoordStr_3=p.K115E;refseq.proteinCoordStr_4=p.K115E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.spliceDist_4=-30;refseq.start_1=20664795;refseq.start_2=20664795;refseq.start_3=20664795;refseq.start_4=20664795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 0/1 chr7 20729171 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=2;HaplotypeScore=2.90;MQ=98.89;MQ0=0;OQ=6690.50;QD=19.01;RankSumP=0.0586046;SB=-1687.29;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2429G>T;refseq.codingCoordStr_2=c.1094G>T;refseq.codonCoord_1=810;refseq.codonCoord_2=365;refseq.end_1=20729171;refseq.end_2=20729171;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2666;refseq.mrnaCoord_2=1640;refseq.name2_1=ABCB5;refseq.name2_2=ABCB5;refseq.name_1=NM_001163941;refseq.name_2=NM_178559;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G810V;refseq.proteinCoordStr_2=p.G365V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=20729171;refseq.start_2=20729171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr7 20734538 . G A 211.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=99.00;MQ0=0;OQ=5626.21;QD=23.15;RankSumP=0.210492;SB=-1275.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2802G>A;refseq.codingCoordStr_2=c.1467G>A;refseq.codonCoord_1=934;refseq.codonCoord_2=489;refseq.end_1=20734538;refseq.end_2=20734538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3039;refseq.mrnaCoord_2=2013;refseq.name2_1=ABCB5;refseq.name2_2=ABCB5;refseq.name_1=NM_001163941;refseq.name_2=NM_178559;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A934A;refseq.proteinCoordStr_2=p.A489A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=20734538;refseq.start_2=20734538;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr7 20745171 . G A 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=3230.05;QD=41.95;RankSumP=1.00000;SB=-1567.49;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2908G>A;refseq.codingCoordStr_2=c.1573G>A;refseq.codonCoord_1=970;refseq.codonCoord_2=525;refseq.end_1=20745171;refseq.end_2=20745171;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3145;refseq.mrnaCoord_2=2119;refseq.name2_1=ABCB5;refseq.name2_2=ABCB5;refseq.name_1=NM_001163941;refseq.name_2=NM_178559;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E970K;refseq.proteinCoordStr_2=p.E525K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=20745171;refseq.start_2=20745171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr7 21436852 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1544T>G;refseq.codonCoord=515;refseq.end=21436852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1725;refseq.name=NM_003112;refseq.name2=SP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V515G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-135;refseq.start=21436852;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr7 21922930 . G A 299.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.92;MQ0=0;OQ=2922.21;QD=18.38;RankSumP=0.0240525;SB=-782.28;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.30C>T;refseq.codingCoordStr_2=c.132C>T;refseq.codingCoordStr_3=c.132C>T;refseq.codonCoord_1=10;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.end_1=21922930;refseq.end_2=21922930;refseq.end_3=21922930;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=306;refseq.mrnaCoord_2=252;refseq.mrnaCoord_3=252;refseq.name2_1=CDCA7L;refseq.name2_2=CDCA7L;refseq.name2_3=CDCA7L;refseq.name_1=NM_001127370;refseq.name_2=NM_001127371;refseq.name_3=NM_018719;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C10C;refseq.proteinCoordStr_2=p.C44C;refseq.proteinCoordStr_3=p.C44C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=21922930;refseq.start_2=21922930;refseq.start_3=21922930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/0 chr7 22952011 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1288A>C;refseq.codonCoord=430;refseq.end=22952011;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_032581;refseq.name2=FAM126A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T430P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=297;refseq.start=22952011;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 22982356 . T C 215.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=99.00;MQ0=0;OQ=1461.85;QD=19.23;RankSumP=0.297718;SB=-383.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.624A>G;refseq.codonCoord=208;refseq.end=22982356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_032581;refseq.name2=FAM126A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S208S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=22982356;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr7 23206649 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=313;Dels=0.00;HRun=2;HaplotypeScore=34.47;MQ=98.33;MQ0=0;OQ=50.46;QD=0.16;RankSumP=0.00000;SB=312.04;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1032T>G;refseq.codonCoord=344;refseq.end=23206649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1291;refseq.name=NM_007342;refseq.name2=NUPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G344G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=338;refseq.start=23206649;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 23263043 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=7.55742e-10;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.375T>G;refseq.codingCoordStr_2=c.375T>G;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.end_1=23263043;refseq.end_2=23263043;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=536;refseq.mrnaCoord_2=536;refseq.name2_1=GPNMB;refseq.name2_2=GPNMB;refseq.name_1=NM_001005340;refseq.name_2=NM_002510;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G125G;refseq.proteinCoordStr_2=p.G125G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=23263043;refseq.start_2=23263043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 23279696 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=23.76;MQ=98.86;MQ0=0;OQ=7589.84;QD=15.30;RankSumP=0.000100746;SB=-2613.53;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1497T>C;refseq.codingCoordStr_2=c.1461T>C;refseq.codonCoord_1=499;refseq.codonCoord_2=487;refseq.end_1=23279696;refseq.end_2=23279696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1658;refseq.mrnaCoord_2=1622;refseq.name2_1=GPNMB;refseq.name2_2=GPNMB;refseq.name_1=NM_001005340;refseq.name_2=NM_002510;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S499S;refseq.proteinCoordStr_2=p.S487S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=23279696;refseq.start_2=23279696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=filterInsoap-gatk GT 1/0 chr7 23323846 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=5732.81;QD=25.94;RankSumP=0.427079;SB=-2047.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1332G>A;refseq.codonCoord=444;refseq.end=23323846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1598;refseq.name=NM_006547;refseq.name2=IGF2BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A444A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=12;refseq.start=23323846;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr7 23695441 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=2;HaplotypeScore=3.22;MQ=99.00;MQ0=0;OQ=2319.78;QD=19.01;RankSumP=0.311915;SB=-508.06;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.268G>A;refseq.codingCoordStr_2=c.94G>A;refseq.codingCoordStr_3=c.268G>A;refseq.codonCoord_1=90;refseq.codonCoord_2=32;refseq.codonCoord_3=90;refseq.end_1=23695441;refseq.end_2=23695441;refseq.end_3=23695441;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=357;refseq.mrnaCoord_2=183;refseq.mrnaCoord_3=357;refseq.name2_1=C7orf46;refseq.name2_2=C7orf46;refseq.name2_3=C7orf46;refseq.name_1=NM_001127364;refseq.name_2=NM_001127365;refseq.name_3=NM_199136;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A90T;refseq.proteinCoordStr_2=p.A32T;refseq.proteinCoordStr_3=p.A90T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=23695441;refseq.start_2=23695441;refseq.start_3=23695441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr7 23695456 . T C 167.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.92;MQ=99.00;MQ0=0;OQ=2351.27;QD=16.22;RankSumP=0.195854;SB=-611.91;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.283T>C;refseq.codingCoordStr_2=c.109T>C;refseq.codingCoordStr_3=c.283T>C;refseq.codonCoord_1=95;refseq.codonCoord_2=37;refseq.codonCoord_3=95;refseq.end_1=23695456;refseq.end_2=23695456;refseq.end_3=23695456;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=198;refseq.mrnaCoord_3=372;refseq.name2_1=C7orf46;refseq.name2_2=C7orf46;refseq.name2_3=C7orf46;refseq.name_1=NM_001127364;refseq.name_2=NM_001127365;refseq.name_3=NM_199136;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C95R;refseq.proteinCoordStr_2=p.C37R;refseq.proteinCoordStr_3=p.C95R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=23695456;refseq.start_2=23695456;refseq.start_3=23695456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/0 chr7 23704416 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=560;Dels=0.00;HRun=1;HaplotypeScore=5.68;MQ=98.76;MQ0=0;OQ=11681.90;QD=20.86;RankSumP=0.356292;SB=-3697.12;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_3=c.718A>G;refseq.codonCoord_3=240;refseq.end_1=23706919;refseq.end_2=23706919;refseq.end_3=23704416;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=807;refseq.name2_1=C7orf46;refseq.name2_2=C7orf46;refseq.name2_3=C7orf46;refseq.name_1=NM_001127364;refseq.name_2=NM_001127365;refseq.name_3=NM_199136;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S240G;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGT;refseq.spliceDist_3=-28;refseq.start_1=23697751;refseq.start_2=23697751;refseq.start_3=23704416;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr7 23718261 . A G 396.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=3311.78;QD=42.46;RankSumP=1.00000;SB=-1270.51;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.-1A>G;refseq.codingCoordStr_2=c.69A>G;refseq.codingCoordStr_3=c.-1A>G;refseq.codonCoord_2=23;refseq.end_1=23718261;refseq.end_2=23718261;refseq.end_3=23718261;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=128;refseq.mrnaCoord_2=136;refseq.mrnaCoord_3=380;refseq.name2_1=STK31;refseq.name2_2=STK31;refseq.name2_3=STK31;refseq.name_1=NM_001122833;refseq.name_2=NM_031414;refseq.name_3=NM_032944;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_2=p.Q23Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=11;refseq.spliceDist_2=19;refseq.spliceDist_3=19;refseq.start_1=23718261;refseq.start_2=23718261;refseq.start_3=23718261;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr7 24291534 . G A 192.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=98.23;MQ0=0;OQ=1445.92;QD=17.21;RankSumP=0.0482537;SB=-744.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.150G>A;refseq.codonCoord=50;refseq.end=24291534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_000905;refseq.name2=NPY;refseq.positionType=CDS;refseq.proteinCoordStr=p.S50S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-39;refseq.start=24291534;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr7 24295658 . C T 180.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=97.19;MQ0=0;OQ=2906.72;QD=14.46;RankSumP=0.250866;SB=-603.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.204C>T;refseq.codonCoord=68;refseq.end=24295658;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_000905;refseq.name2=NPY;refseq.positionType=CDS;refseq.proteinCoordStr=p.S68S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=16;refseq.start=24295658;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr7 24669823 . G A 217.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.95;MQ0=0;OQ=4279.15;QD=17.68;RankSumP=0.301508;SB=-1256.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.741G>A;refseq.codonCoord=247;refseq.end=24669823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_016447;refseq.name2=MPP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E247E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-43;refseq.start=24669823;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr7 24723476 . C T 279.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=14.29;MQ=98.75;MQ0=0;OQ=4394.09;QD=17.65;RankSumP=0.0953663;SB=-1430.56;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.619G>A;refseq.codingCoordStr_2=c.127G>A;refseq.codingCoordStr_3=c.619G>A;refseq.codonCoord_1=207;refseq.codonCoord_2=43;refseq.codonCoord_3=207;refseq.end_1=24723476;refseq.end_2=24723476;refseq.end_3=24723476;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=707;refseq.mrnaCoord_2=722;refseq.mrnaCoord_3=952;refseq.name2_1=DFNA5;refseq.name2_2=DFNA5;refseq.name2_3=DFNA5;refseq.name_1=NM_001127453;refseq.name_2=NM_001127454;refseq.name_3=NM_004403;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V207M;refseq.proteinCoordStr_2=p.V43M;refseq.proteinCoordStr_3=p.V207M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=24723476;refseq.start_2=24723476;refseq.start_3=24723476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr7 24725278 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=681;Dels=0.00;HRun=1;HaplotypeScore=21.36;MQ=98.84;MQ0=0;OQ=13025.42;QD=19.13;RankSumP=0.179866;SB=-3331.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.489G>A;refseq.codingCoordStr_2=c.-4G>A;refseq.codingCoordStr_3=c.489G>A;refseq.codonCoord_1=163;refseq.codonCoord_3=163;refseq.end_1=24725278;refseq.end_2=24725278;refseq.end_3=24725278;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=577;refseq.mrnaCoord_2=592;refseq.mrnaCoord_3=822;refseq.name2_1=DFNA5;refseq.name2_2=DFNA5;refseq.name2_3=DFNA5;refseq.name_1=NM_001127453;refseq.name_2=NM_001127454;refseq.name_3=NM_004403;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T163T;refseq.proteinCoordStr_3=p.T163T;refseq.referenceAA_1=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.spliceDist_3=85;refseq.start_1=24725278;refseq.start_2=24725278;refseq.start_3=24725278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr7 24725320 . T C 143.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=2;HaplotypeScore=7.24;MQ=98.84;MQ0=0;OQ=7546.66;QD=17.88;RankSumP=0.287121;SB=-1409.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.447A>G;refseq.codingCoordStr_2=c.-46A>G;refseq.codingCoordStr_3=c.447A>G;refseq.codonCoord_1=149;refseq.codonCoord_3=149;refseq.end_1=24725320;refseq.end_2=24725320;refseq.end_3=24725320;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=535;refseq.mrnaCoord_2=550;refseq.mrnaCoord_3=780;refseq.name2_1=DFNA5;refseq.name2_2=DFNA5;refseq.name2_3=DFNA5;refseq.name_1=NM_001127453;refseq.name_2=NM_001127454;refseq.name_3=NM_004403;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E149E;refseq.proteinCoordStr_3=p.E149E;refseq.referenceAA_1=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=24725320;refseq.start_2=24725320;refseq.start_3=24725320;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr7 24725343 . G T 240.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.82;MQ0=0;OQ=4830.32;QD=14.64;RankSumP=0.133782;SB=-939.45;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.424C>A;refseq.codingCoordStr_2=c.-69C>A;refseq.codingCoordStr_3=c.424C>A;refseq.codonCoord_1=142;refseq.codonCoord_3=142;refseq.end_1=24725343;refseq.end_2=24725343;refseq.end_3=24725343;refseq.frame_1=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=512;refseq.mrnaCoord_2=527;refseq.mrnaCoord_3=757;refseq.name2_1=DFNA5;refseq.name2_2=DFNA5;refseq.name2_3=DFNA5;refseq.name_1=NM_001127453;refseq.name_2=NM_001127454;refseq.name_3=NM_004403;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P142T;refseq.proteinCoordStr_3=p.P142T;refseq.referenceAA_1=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=24725343;refseq.start_2=24725343;refseq.start_3=24725343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr7 25148437 . T C 353.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=11.39;MQ=98.42;MQ0=0;OQ=5413.44;QD=19.13;RankSumP=0.342688;SB=-2141.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.899A>G;refseq.codonCoord=300;refseq.end=25148437;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_138811;refseq.name2=C7orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.H300R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=40;refseq.start=25148437;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr7 25161190 . G C 162.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3400.32;QD=47.23;RankSumP=1.00000;SB=-573.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.560C>G;refseq.codonCoord=187;refseq.end=25161190;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_138811;refseq.name2=C7orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.T187S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-36;refseq.start=25161190;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr7 25161278 . C T 340.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.67;MQ0=0;OQ=6143.86;QD=20.48;RankSumP=0.00650850;SB=-2597.79;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.472G>A;refseq.codonCoord=158;refseq.end=25161278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_138811;refseq.name2=C7orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.A158T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=59;refseq.start=25161278;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr7 25174499 . T C 113.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=0;HaplotypeScore=18.16;MQ=98.90;MQ0=0;OQ=13113.22;QD=20.65;RankSumP=0.211131;SB=-4634.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.245A>G;refseq.codonCoord=82;refseq.end=25174499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_138811;refseq.name2=C7orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y82C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-67;refseq.start=25174499;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr7 25174519 . G A 222.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=12.85;MQ=98.89;MQ0=0;OQ=11482.72;QD=21.30;RankSumP=0.175160;SB=-4029.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.225C>T;refseq.codonCoord=75;refseq.end=25174519;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_138811;refseq.name2=C7orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.P75P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-87;refseq.start=25174519;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr7 25232925 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=609;Dels=0.00;HRun=0;HaplotypeScore=39.46;MQ=98.90;MQ0=0;OQ=12006.20;QD=19.71;RankSumP=0.0860224;SB=-4475.08;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.384C>T;refseq.codonCoord=128;refseq.end=25232925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_022150;refseq.name2=NPVF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P128P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-156;refseq.start=25232925;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr7 25234459 . T C 125.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=98.15;MQ0=0;OQ=1311.95;QD=13.81;RankSumP=0.249477;SB=-627.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.125A>G;refseq.codonCoord=42;refseq.end=25234459;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_022150;refseq.name2=NPVF;refseq.positionType=CDS;refseq.proteinCoordStr=p.D42G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-14;refseq.start=25234459;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr7 25234488 . G C 185.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.37;MQ0=0;OQ=4467.32;QD=48.56;RankSumP=1.00000;SB=-1590.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.96C>G;refseq.codonCoord=32;refseq.end=25234488;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=143;refseq.name=NM_022150;refseq.name2=NPVF;refseq.positionType=CDS;refseq.proteinCoordStr=p.I32M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-43;refseq.start=25234488;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr7 26198675 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1012A>G;refseq.codingCoordStr_2=c.1048A>G;refseq.codonCoord_1=338;refseq.codonCoord_2=350;refseq.end_1=26198675;refseq.end_2=26198675;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1228;refseq.mrnaCoord_2=1264;refseq.name2_1=HNRNPA2B1;refseq.name2_2=HNRNPA2B1;refseq.name_1=NM_002137;refseq.name_2=NM_031243;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R338G;refseq.proteinCoordStr_2=p.R350G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=26198675;refseq.start_2=26198675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 26676315 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=327;Dels=0.00;HRun=3;HaplotypeScore=26.17;MQ=98.22;MQ0=0;OQ=451.35;QD=1.38;RankSumP=0.00000;SB=360.13;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1009T>G;refseq.codonCoord=337;refseq.end=26676315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_003930;refseq.name2=SKAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W337G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=22;refseq.start=26676315;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr7 27101839 . C T 175.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=97.94;MQ0=0;OQ=1584.44;QD=14.54;RankSumP=0.0910120;SB=-281.82;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.218G>A;refseq.codingCoordStr_2=c.218G>A;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=27101839;refseq.end_2=27101839;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=312;refseq.mrnaCoord_2=312;refseq.name2_1=HOXA1;refseq.name2_2=HOXA1;refseq.name_1=NM_005522;refseq.name_2=NM_153620;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R73H;refseq.proteinCoordStr_2=p.R73H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=312;refseq.spliceDist_2=-137;refseq.start_1=27101839;refseq.start_2=27101839;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr7 27135618 . T G 255.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=11.04;MQ=98.62;MQ0=0;OQ=7327.43;QD=37.58;RankSumP=1.00000;SB=-3275.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.714A>C;refseq.codonCoord=238;refseq.end=27135618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_002141;refseq.name2=HOXA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R238R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=98;refseq.start=27135618;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr7 27162594 . A C 232.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.34;MQ0=0;OQ=1905.05;QD=31.75;RankSumP=1.00000;SB=-573.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.96T>G;refseq.codonCoord=32;refseq.end=27162594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_006896;refseq.name2=HOXA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=228;refseq.start=27162594;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr7 27162638 . C T 114.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=98.89;MQ0=0;OQ=3898.95;QD=29.76;RankSumP=1.00000;SB=-134.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.52G>A;refseq.codonCoord=18;refseq.end=27162638;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_006896;refseq.name2=HOXA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=184;refseq.start=27162638;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr7 27169817 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.749T>G;refseq.codonCoord=250;refseq.end=27169817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_152739;refseq.name2=HOXA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V250G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=169;refseq.start=27169817;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr7 27179612 . C A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=6;HRun=2;RankSumP=0.500000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.839G>T;refseq.codonCoord_2=280;refseq.end_1=27185779;refseq.end_2=27179612;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=869;refseq.name2_1=HOXA10;refseq.name2_2=HOXA10;refseq.name_1=NM_153715;refseq.name_2=NM_018951;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C280F;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=-120;refseq.start_1=27178328;refseq.start_2=27179612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=FilteredInAll GT 1/0 chr7 28186685 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.37A>C;refseq.codonCoord=13;refseq.end=28186685;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_175061;refseq.name2=JAZF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-79;refseq.start=28186685;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 29036734 . G A 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=641;Dels=0.00;HRun=0;HaplotypeScore=25.26;MQ=98.33;MQ0=0;OQ=20716.77;QD=32.32;RankSumP=1.00000;SB=-6146.70;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1304C>T;refseq.codingCoordStr_2=c.1304C>T;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=29036734;refseq.end_2=29036734;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1511;refseq.mrnaCoord_2=1423;refseq.name2_1=CPVL;refseq.name2_2=CPVL;refseq.name_1=NM_019029;refseq.name_2=NM_031311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A435V;refseq.proteinCoordStr_2=p.A435V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=29036734;refseq.start_2=29036734;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr7 29572500 . C G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=3.77;MQ=97.91;MQ0=0;OQ=1949.98;QD=28.68;RankSumP=1.00000;SB=-459.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.30C>G;refseq.codonCoord=10;refseq.end=29572500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_175887;refseq.name2=PRR15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S10S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=175;refseq.start=29572500;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr7 29961419 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.242T>G;refseq.codingCoordStr_2=c.302T>G;refseq.codingCoordStr_3=c.38T>G;refseq.codingCoordStr_4=c.242T>G;refseq.codonCoord_1=81;refseq.codonCoord_2=101;refseq.codonCoord_3=13;refseq.codonCoord_4=81;refseq.end_1=29961419;refseq.end_2=29961419;refseq.end_3=29961419;refseq.end_4=29961419;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=351;refseq.mrnaCoord_3=251;refseq.mrnaCoord_4=411;refseq.name2_1=SCRN1;refseq.name2_2=SCRN1;refseq.name2_3=SCRN1;refseq.name2_4=SCRN1;refseq.name_1=NM_001145513;refseq.name_2=NM_001145514;refseq.name_3=NM_001145515;refseq.name_4=NM_014766;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M81R;refseq.proteinCoordStr_2=p.M101R;refseq.proteinCoordStr_3=p.M13R;refseq.proteinCoordStr_4=p.M81R;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.spliceDist_3=83;refseq.spliceDist_4=83;refseq.start_1=29961419;refseq.start_2=29961419;refseq.start_3=29961419;refseq.start_4=29961419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=FilteredInAll GT 0/1 chr7 30054027 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.256487;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.368A>G;refseq.codonCoord=123;refseq.end=30054027;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_032639;refseq.name2=PLEKHA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y123C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=55;refseq.start=30054027;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 0/1 chr7 30060944 . G A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.438073;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.891G>A;refseq.codonCoord=297;refseq.end=30060944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_032639;refseq.name2=PLEKHA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P297P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-63;refseq.start=30060944;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr7 30461327 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=6.27120e-09;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.327C>T;refseq.codonCoord=109;refseq.end=30461327;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_006092;refseq.name2=NOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F109F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-50;refseq.start=30461327;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr7 30601186 . C G 196.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.60;MQ0=0;OQ=320.57;QD=16.87;RankSumP=0.328703;SB=-126.72;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.124C>G;refseq.codonCoord=42;refseq.end=30601186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_002047;refseq.name2=GARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P42A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-99;refseq.start=30601186;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 30758373 . G A 100.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=10.16;MQ=98.32;MQ0=0;OQ=3230.05;QD=15.45;RankSumP=0.352780;SB=-792.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.82G>A;refseq.codonCoord=28;refseq.end=30758373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_006774;refseq.name2=INMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D28N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-73;refseq.start=30758373;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr7 30761813 . A G 163.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=8.18;MQ=98.40;MQ0=0;OQ=2926.37;QD=13.80;RankSumP=0.469533;SB=-500.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.613A>G;refseq.codonCoord=205;refseq.end=30761813;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_006774;refseq.name2=INMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.M205V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=251;refseq.start=30761813;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr7 30761856 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=2;HaplotypeScore=2.11;MQ=98.36;MQ0=0;OQ=1923.99;QD=17.18;RankSumP=0.0111275;SB=-748.95;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.656A>G;refseq.codonCoord=219;refseq.end=30761856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_006774;refseq.name2=INMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E219G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=294;refseq.start=30761856;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr7 30761961 . T G 399.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=98.24;MQ0=0;OQ=3944.50;QD=38.30;RankSumP=1.00000;SB=-1852.09;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.761T>G;refseq.codonCoord=254;refseq.end=30761961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_006774;refseq.name2=INMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.F254C;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=399;refseq.start=30761961;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr7 30846938 . G A 216.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.78;MQ0=0;OQ=2196.92;QD=17.03;RankSumP=0.100431;SB=-980.52;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1394G>A;refseq.codonCoord=465;refseq.end=30846938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1471;refseq.name=NM_032222;refseq.name2=FAM188B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C465Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=38;refseq.start=30846938;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr7 30928315 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.87;MQ0=0;OQ=1280.78;QD=13.34;RankSumP=0.00467028;SB=-94.92;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.494G>A;refseq.codonCoord=165;refseq.end=30928315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_198098;refseq.name2=AQP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G165D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-56;refseq.start=30928315;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 1/0 chr7 30928721 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=9.03622e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.567T>G;refseq.codonCoord=189;refseq.end=30928721;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_198098;refseq.name2=AQP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C189W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=18;refseq.start=30928721;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr7 30976042 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.304T>G;refseq.codingCoordStr_2=c.304T>G;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.end_1=30976042;refseq.end_2=30976042;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=352;refseq.mrnaCoord_2=352;refseq.name2_1=GHRHR;refseq.name2_2=GHRHR;refseq.name_1=NM_000823;refseq.name_2=NM_001009824;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S102A;refseq.proteinCoordStr_2=p.S102A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=30976042;refseq.start_2=30976042;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 1/0 chr7 31069414 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=31069414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_001118;refseq.name2=ADCYAP1R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-43;refseq.start=31069414;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 31698614 . C G 323.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.83;MQ0=0;OQ=5582.41;QD=20.15;RankSumP=0.133469;SB=-1398.71;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.34C>G;refseq.codingCoordStr_2=c.34C>G;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=31698614;refseq.end_2=31698614;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=192;refseq.mrnaCoord_2=192;refseq.name2_1=C7orf16;refseq.name2_2=C7orf16;refseq.name_1=NM_001145123;refseq.name_2=NM_006658;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L12V;refseq.proteinCoordStr_2=p.L12V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=31698614;refseq.start_2=31698614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr7 31713362 . C T 284.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.89;MQ0=0;OQ=4596.78;QD=16.19;RankSumP=0.318395;SB=-1609.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.255C>T;refseq.codingCoordStr_2=c.408C>T;refseq.codonCoord_1=85;refseq.codonCoord_2=136;refseq.end_1=31713362;refseq.end_2=31713362;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=413;refseq.mrnaCoord_2=566;refseq.name2_1=C7orf16;refseq.name2_2=C7orf16;refseq.name_1=NM_001145123;refseq.name_2=NM_006658;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D85D;refseq.proteinCoordStr_2=p.D136D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=31713362;refseq.start_2=31713362;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr7 31822103 . G A 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=668;Dels=0.00;HRun=1;HaplotypeScore=19.15;MQ=98.80;MQ0=0;OQ=28797.46;QD=43.11;RankSumP=1.00000;SB=-11338.11;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1773C>T;refseq.codonCoord=591;refseq.end=31822103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1949;refseq.name=NM_005020;refseq.name2=PDE1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N591N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-41;refseq.start=31822103;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 32496461 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=39.05;MQ=97.54;MQ0=0;OQ=5294.20;QD=13.97;RankSumP=0.102627;SB=-810.66;SecondBestBaseQ=26;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_4=c.42C>G;refseq.codonCoord_4=14;refseq.end_1=32501117;refseq.end_2=32501356;refseq.end_3=32496461;refseq.end_4=32496461;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=540;refseq.mrnaCoord_4=88;refseq.name2_1=LSM5;refseq.name2_2=LSM5;refseq.name2_3=LSM5;refseq.name2_4=LSM5;refseq.name_1=NM_001139499;refseq.name_2=NM_001130710;refseq.name_3=NR_024466;refseq.name_4=NM_012322;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P14P;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCC;refseq.spliceDist_3=-300;refseq.spliceDist_4=-5;refseq.spliceInfo_4=splice-donor_-5;refseq.start_1=32495492;refseq.start_2=32495492;refseq.start_3=32496461;refseq.start_4=32496461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Pro;refseq.variantCodon_4=CCG;set=Intersection GT 0/1 chr7 32565155 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=12.94;MQ=98.71;MQ0=0;OQ=4869.74;QD=17.71;RankSumP=0.324624;SB=-1079.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.769T>A;refseq.codonCoord=257;refseq.end=32565155;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_015060;refseq.name2=AVL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C257S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=90;refseq.start=32565155;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr7 32565181 . C T 246.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.72;MQ0=0;OQ=2588.36;QD=16.49;RankSumP=0.433217;SB=-698.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.795C>T;refseq.codonCoord=265;refseq.end=32565181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_015060;refseq.name2=AVL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S265S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=116;refseq.start=32565181;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr7 32579545 . A G 279.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=8.62;MQ=98.83;MQ0=0;OQ=5863.90;QD=19.29;RankSumP=0.305954;SB=-746.46;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1560A>G;refseq.codonCoord=520;refseq.end=32579545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1706;refseq.name=NM_015060;refseq.name2=AVL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T520T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-11;refseq.start=32579545;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr7 32590002 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.62;MQ0=0;OQ=2947.32;QD=13.04;RankSumP=0.00432010;SB=-1174.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1905C>G;refseq.codonCoord=635;refseq.end=32590002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2051;refseq.name=NM_015060;refseq.name2=AVL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S635S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=74;refseq.start=32590002;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/0 chr7 32875707 . G A 248.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=597;Dels=0.00;HRun=0;HaplotypeScore=14.03;MQ=98.89;MQ0=0;OQ=11091.86;QD=18.58;RankSumP=0.00481689;SB=-3647.77;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1647C>T;refseq.codonCoord=549;refseq.end=32875707;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2306;refseq.name=NM_015483;refseq.name2=KBTBD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y549Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1311;refseq.start=32875707;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=filterInsoap-gatk GT 1/0 chr7 32980778 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.377630;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.246T>C;refseq.codonCoord=82;refseq.end=32980778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N82N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=25;refseq.start=32980778;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr7 32980852 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.368742;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.320G>A;refseq.codonCoord=107;refseq.end=32980852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R107H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-48;refseq.start=32980852;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr7 32980888 . A G 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.756169;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.356A>G;refseq.codonCoord=119;refseq.end=32980888;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N119S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-12;refseq.start=32980888;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr7 32982512 . T G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.238379;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.579T>G;refseq.codonCoord=193;refseq.end=32982512;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y193*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=22;refseq.start=32982512;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=soap GT 1/0 chr7 32994652 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.450740;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.902G>A;refseq.codonCoord=301;refseq.end=32994652;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R301Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=32994652;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr7 32994708 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=452;Dels=0.00;HRun=2;HaplotypeScore=15.64;MQ=24.77;MQ0=167;OQ=4930.53;QD=10.91;RankSumP=0.313125;SB=-1212.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.958G>A;refseq.codonCoord=320;refseq.end=32994708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E320K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=65;refseq.start=32994708;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr7 32994737 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0426134;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.987A>G;refseq.codonCoord=329;refseq.end=32994737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E329E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-53;refseq.start=32994737;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr7 32994758 . G C 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.132731;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1008G>C;refseq.codonCoord=336;refseq.end=32994758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P336P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-32;refseq.start=32994758;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr7 33008892 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.555556;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1452C>A;refseq.codonCoord=484;refseq.end=33008892;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1633;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y484*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=80;refseq.start=33008892;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr7 33008928 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.521156;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1488C>T;refseq.codonCoord=496;refseq.end=33008928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1669;refseq.name=NM_007270;refseq.name2=FKBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L496L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-49;refseq.start=33008928;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 0/1 chr7 33027471 . A G 380.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=97.06;MQ0=1;OQ=8953.05;QD=39.10;RankSumP=1.00000;SB=-3396.08;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_2=c.393T>C;refseq.codingCoordStr_3=c.240T>C;refseq.codingCoordStr_4=c.276T>C;refseq.codonCoord_2=131;refseq.codonCoord_3=80;refseq.codonCoord_4=92;refseq.end_1=33027471;refseq.end_2=33027471;refseq.end_3=33027471;refseq.end_4=33027471;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=525;refseq.mrnaCoord_2=470;refseq.mrnaCoord_3=419;refseq.mrnaCoord_4=334;refseq.name2_1=NT5C3;refseq.name2_2=NT5C3;refseq.name2_3=NT5C3;refseq.name2_4=NT5C3;refseq.name_1=NR_029372;refseq.name_2=NM_001002010;refseq.name_3=NM_001166118;refseq.name_4=NM_016489;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y131Y;refseq.proteinCoordStr_3=p.Y80Y;refseq.proteinCoordStr_4=p.Y92Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=33027471;refseq.start_2=33027471;refseq.start_3=33027471;refseq.start_4=33027471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 1/1 chr7 33976471 . C T 313.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=98.73;MQ0=0;OQ=12958.67;QD=40.00;RankSumP=1.00000;SB=-4511.57;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.408C>T;refseq.codonCoord=136;refseq.end=33976471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_133468;refseq.name2=BMPER;refseq.positionType=CDS;refseq.proteinCoordStr=p.G136G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=33976471;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr7 34085244 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.000114510;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1329G>C;refseq.codonCoord=443;refseq.end=34085244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_133468;refseq.name2=BMPER;refseq.positionType=CDS;refseq.proteinCoordStr=p.S443S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-80;refseq.start=34085244;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr7 34159287 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=748;Dels=0.00;HRun=1;HaplotypeScore=20.06;MQ=98.80;MQ0=0;OQ=35982.72;QD=48.11;RankSumP=1.00000;SB=-15161.28;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1935G>C;refseq.codonCoord=645;refseq.end=34159287;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2049;refseq.name=NM_133468;refseq.name2=BMPER;refseq.positionType=CDS;refseq.proteinCoordStr=p.T645T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=59;refseq.start=34159287;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 34784638 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=1.12;MQ=98.79;MQ0=0;OQ=4646.36;QD=17.02;RankSumP=0.252784;SB=-1741.20;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.320A>T;refseq.codingCoordStr_3=c.320A>T;refseq.codonCoord_2=107;refseq.codonCoord_3=107;refseq.end_1=34840287;refseq.end_2=34784638;refseq.end_3=34784638;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=448;refseq.mrnaCoord_3=448;refseq.name2_1=AAA1;refseq.name2_2=NPSR1;refseq.name2_3=NPSR1;refseq.name_1=NR_015356;refseq.name_2=NM_207172;refseq.name_3=NM_207173;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N107I;refseq.proteinCoordStr_3=p.N107I;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=34774588;refseq.start_2=34784638;refseq.start_3=34784638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr7 34817918 . C G 134.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=599;Dels=0.00;HRun=0;HaplotypeScore=19.82;MQ=98.76;MQ0=0;OQ=13491.58;QD=22.52;RankSumP=0.255486;SB=-3269.48;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.396C>G;refseq.codingCoordStr_3=c.396C>G;refseq.codonCoord_2=132;refseq.codonCoord_3=132;refseq.end_1=34840287;refseq.end_2=34817918;refseq.end_3=34817918;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=524;refseq.mrnaCoord_3=524;refseq.name2_1=AAA1;refseq.name2_2=NPSR1;refseq.name2_3=NPSR1;refseq.name_1=NR_015356;refseq.name_2=NM_207172;refseq.name_3=NM_207173;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L132L;refseq.proteinCoordStr_3=p.L132L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.start_1=34774588;refseq.start_2=34817918;refseq.start_3=34817918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr7 34946430 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=3.84;MQ=80.07;MQ0=3;OQ=1281.68;QD=10.68;RankSumP=0.0161145;SB=-654.21;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1505G>T;refseq.codonCoord=502;refseq.end=34946430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1650;refseq.name=NM_015283;refseq.name2=DPY19L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G502V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=35;refseq.start=34946430;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr7 34953808 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.146227;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1234C>T;refseq.codonCoord=412;refseq.end=34953808;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_015283;refseq.name2=DPY19L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L412F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=31;refseq.start=34953808;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr7 35237651 . C A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.600000;SecondBestBaseQ=34;set=FilteredInAll GT 1/0 chr7 35254847 . A C 50 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=111;Dels=0.00;HRun=2;HaplotypeScore=34.71;MQ=93.62;MQ0=0;QD=0.09;RankSumP=0.000206542;SB=53.19;SecondBestBaseQ=9;set=FilteredInAll GT 0/1 chr7 35259718 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=7.39;MQ=98.56;MQ0=0;OQ=3048.43;QD=13.92;RankSumP=0.160403;SB=-1007.82;SecondBestBaseQ=29;set=Intersection GT 0/1 chr7 35676367 . C T 425.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.91;MQ0=0;OQ=12791.14;QD=41.94;RankSumP=1.00000;SB=-3172.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.322G>A;refseq.codonCoord=108;refseq.end=35676367;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_022373;refseq.name2=HERPUD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A108T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-18;refseq.start=35676367;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 36287346 . G A 290.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=98.91;MQ0=0;OQ=3583.54;QD=39.38;RankSumP=1.00000;SB=-838.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1028G>A;refseq.codonCoord=343;refseq.end=36287346;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1668;refseq.name=NM_030636;refseq.name2=EEPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S343N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-14;refseq.start=36287346;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 36305274 . T C 401.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.58;MQ0=0;OQ=5035.35;QD=35.46;RankSumP=1.00000;SB=-2211.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1644T>C;refseq.codonCoord=548;refseq.end=36305274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2284;refseq.name=NM_030636;refseq.name2=EEPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D548D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=134;refseq.start=36305274;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr7 36340065 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=325;Dels=0.00;HRun=2;HaplotypeScore=21.06;MQ=98.59;MQ0=0;OQ=133.37;QD=0.41;RankSumP=0.00000;SB=387.28;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1231T>G;refseq.codingCoordStr_2=c.1078T>G;refseq.codonCoord_1=411;refseq.codonCoord_2=360;refseq.end_1=36340065;refseq.end_2=36340065;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1282;refseq.mrnaCoord_2=1379;refseq.name2_1=KIAA0895;refseq.name2_2=KIAA0895;refseq.name_1=NM_001100425;refseq.name_2=NM_015314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F411V;refseq.proteinCoordStr_2=p.F360V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=36340065;refseq.start_2=36340065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 0/1 chr7 36405234 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=98.18;MQ0=0;OQ=1852.15;QD=20.58;RankSumP=0.188005;SB=-547.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.194C>G;refseq.codonCoord=65;refseq.end=36405234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_018685;refseq.name2=ANLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S65W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=22;refseq.start=36405234;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr7 36412381 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=373;Dels=0.00;HRun=1;HaplotypeScore=9.35;MQ=98.73;MQ0=0;OQ=7094.50;QD=19.02;RankSumP=0.143546;SB=-2968.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.554G>A;refseq.codonCoord=185;refseq.end=36412381;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_018685;refseq.name2=ANLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R185K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=67;refseq.start=36412381;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr7 36412646 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=988;Dels=0.00;HRun=0;HaplotypeScore=37.30;MQ=98.92;MQ0=0;OQ=19757.73;QD=20.00;RankSumP=0.190901;SB=-5730.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.819A>G;refseq.codonCoord=273;refseq.end=36412646;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_018685;refseq.name2=ANLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L273L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-55;refseq.start=36412646;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr7 36422002 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=2724.93;QD=21.98;RankSumP=0.350871;SB=-961.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1506T>C;refseq.codonCoord=502;refseq.end=36422002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1710;refseq.name=NM_018685;refseq.name2=ANLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S502S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-17;refseq.start=36422002;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr7 36730213 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=19.91;MQ=98.71;MQ0=0;OQ=6756.58;QD=29.38;RankSumP=1.00000;SB=-2578.36;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.66G>A;refseq.codonCoord=22;refseq.end=36730213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_001637;refseq.name2=AOAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S22S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-62;refseq.start=36730213;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr7 36861867 . C T 349.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=7.76;MQ=98.71;MQ0=0;OQ=5810.91;QD=17.77;RankSumP=0.142347;SB=-1448.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.558G>A;refseq.codingCoordStr_2=c.1998G>A;refseq.codingCoordStr_3=c.558G>A;refseq.codonCoord_1=186;refseq.codonCoord_2=666;refseq.codonCoord_3=186;refseq.end_1=36861867;refseq.end_2=36861867;refseq.end_3=36861867;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=707;refseq.mrnaCoord_2=2305;refseq.mrnaCoord_3=755;refseq.name2_1=ELMO1;refseq.name2_2=ELMO1;refseq.name2_3=ELMO1;refseq.name_1=NM_001039459;refseq.name_2=NM_014800;refseq.name_3=NM_130442;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T186T;refseq.proteinCoordStr_2=p.T666T;refseq.proteinCoordStr_3=p.T186T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=36861867;refseq.start_2=36861867;refseq.start_3=36861867;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr7 37747324 . C A 244.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.81;MQ0=0;OQ=5995.81;QD=16.99;RankSumP=0.112539;SB=-1636.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.804C>A;refseq.codonCoord=268;refseq.end=37747324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_181791;refseq.name2=GPR141;refseq.positionType=CDS;refseq.proteinCoordStr=p.I268I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-115;refseq.start=37747324;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr7 37873829 . T C 414.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.56;MQ0=0;OQ=5110.92;QD=38.72;RankSumP=1.00000;SB=-914.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.622T>C;refseq.codonCoord=208;refseq.end=37873829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_016616;refseq.name2=TXNDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C208R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=37873829;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr7 37882980 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=97.87;MQ0=0;OQ=1064.10;QD=12.98;RankSumP=0.122129;SB=-376.23;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.840A>G;refseq.codonCoord=280;refseq.end=37882980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_016616;refseq.name2=TXNDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R280R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=22;refseq.start=37882980;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr7 37900671 . T C 128.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=7.70;MQ=98.87;MQ0=0;OQ=5714.56;QD=40.53;RankSumP=1.00000;SB=-1490.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1478T>C;refseq.codonCoord=493;refseq.end=37900671;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_016616;refseq.name2=TXNDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I493T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-67;refseq.start=37900671;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 37900672 . A T 201.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=4.87;MQ=98.86;MQ0=0;OQ=5339.77;QD=39.85;RankSumP=1.00000;SB=-1483.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1479A>T;refseq.codonCoord=493;refseq.end=37900672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1851;refseq.name=NM_016616;refseq.name2=TXNDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I493I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-66;refseq.start=37900672;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr7 37913675 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.972A>C;refseq.codonCoord=324;refseq.end=37913675;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1358;refseq.name=NM_003014;refseq.name2=SFRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K324N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=117;refseq.start=37913675;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr7 37918251 . G A 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=490;Dels=0.00;HRun=1;HaplotypeScore=13.80;MQ=98.83;MQ0=0;OQ=21046.75;QD=42.95;RankSumP=1.00000;SB=-6215.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.786C>T;refseq.codonCoord=262;refseq.end=37918251;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_003014;refseq.name2=SFRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R262R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=37918251;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr7 37926811 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.518614;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.105A>C;refseq.codonCoord=35;refseq.end=37926811;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=124;refseq.name=NM_017549;refseq.name2=EPDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A35A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=124;refseq.start=37926811;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr7 37955114 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=435;Dels=0.00;HRun=1;HaplotypeScore=3.55;MQ=98.78;MQ0=0;OQ=18379.94;QD=42.25;RankSumP=1.00000;SB=-7665.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.777C>T;refseq.codonCoord=259;refseq.end=37955114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_017549;refseq.name2=EPDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I259I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-62;refseq.start=37955114;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr7 38397955 . A G 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=4.21;MQ=98.47;MQ0=0;OQ=517.24;QD=19.89;RankSumP=0.729655;SB=-162.73;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1797T>C;refseq.codingCoordStr_2=c.1671T>C;refseq.codonCoord_1=599;refseq.codonCoord_2=557;refseq.end_1=38397955;refseq.end_2=38397955;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1866;refseq.mrnaCoord_2=1740;refseq.name2_1=AMPH;refseq.name2_2=AMPH;refseq.name_1=NM_001635;refseq.name_2=NM_139316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S599S;refseq.proteinCoordStr_2=p.S557S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=38397955;refseq.start_2=38397955;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr7 38397961 . C T 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.49;MQ0=0;OQ=224.19;QD=8.30;RankSumP=0.633647;SB=-23.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1791G>A;refseq.codingCoordStr_2=c.1665G>A;refseq.codonCoord_1=597;refseq.codonCoord_2=555;refseq.end_1=38397961;refseq.end_2=38397961;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1860;refseq.mrnaCoord_2=1734;refseq.name2_1=AMPH;refseq.name2_2=AMPH;refseq.name_1=NM_001635;refseq.name_2=NM_139316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T597T;refseq.proteinCoordStr_2=p.T555T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=38397961;refseq.start_2=38397961;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr7 38398006 . C A 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=96.79;MQ0=0;OQ=195.54;QD=10.86;RankSumP=0.606288;SB=-67.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1746G>T;refseq.codingCoordStr_2=c.1620G>T;refseq.codonCoord_1=582;refseq.codonCoord_2=540;refseq.end_1=38398006;refseq.end_2=38398006;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1815;refseq.mrnaCoord_2=1689;refseq.name2_1=AMPH;refseq.name2_2=AMPH;refseq.name_1=NM_001635;refseq.name_2=NM_139316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P582P;refseq.proteinCoordStr_2=p.P540P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-133;refseq.spliceDist_2=-133;refseq.start_1=38398006;refseq.start_2=38398006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr7 38424013 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=173;Dels=0.00;HRun=2;HaplotypeScore=22.26;MQ=98.32;MQ0=0;OQ=82.47;QD=0.48;RankSumP=0.00000;SB=95.31;SecondBestBaseQ=12;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1335A>C;refseq.codonCoord_2=445;refseq.end_1=38428535;refseq.end_2=38424013;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1404;refseq.name2_1=AMPH;refseq.name2_2=AMPH;refseq.name_1=NM_139316;refseq.name_2=NM_001635;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T445T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=63;refseq.start_1=38400350;refseq.start_2=38424013;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr7 38748230 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2139G>T;refseq.codingCoordStr_2=c.2064G>T;refseq.codonCoord_1=713;refseq.codonCoord_2=688;refseq.end_1=38748230;refseq.end_2=38748230;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2165;refseq.mrnaCoord_2=2090;refseq.name2_1=VPS41;refseq.name2_2=VPS41;refseq.name_1=NM_014396;refseq.name_2=NM_080631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L713F;refseq.proteinCoordStr_2=p.L688F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=38748230;refseq.start_2=38748230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr7 38763095 . G A 240.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.88;MQ0=0;OQ=3149.71;QD=15.14;RankSumP=0.486599;SB=-1526.82;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1563C>T;refseq.codingCoordStr_2=c.1488C>T;refseq.codonCoord_1=521;refseq.codonCoord_2=496;refseq.end_1=38763095;refseq.end_2=38763095;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1589;refseq.mrnaCoord_2=1514;refseq.name2_1=VPS41;refseq.name2_2=VPS41;refseq.name_1=NM_014396;refseq.name_2=NM_080631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D521D;refseq.proteinCoordStr_2=p.D496D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=38763095;refseq.start_2=38763095;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr7 38801601 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.706A>G;refseq.codingCoordStr_2=c.631A>G;refseq.codonCoord_1=236;refseq.codonCoord_2=211;refseq.end_1=38801601;refseq.end_2=38801601;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=657;refseq.name2_1=VPS41;refseq.name2_2=VPS41;refseq.name_1=NM_014396;refseq.name_2=NM_080631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T236A;refseq.proteinCoordStr_2=p.T211A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=38801601;refseq.start_2=38801601;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 1/0 chr7 39957533 . C G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.768C>G;refseq.codingCoordStr_2=c.768C>G;refseq.codonCoord_1=256;refseq.codonCoord_2=256;refseq.end_1=39957533;refseq.end_2=39957533;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1050;refseq.mrnaCoord_2=1050;refseq.name2_1=CDK13;refseq.name2_2=CDK13;refseq.name_1=NM_003718;refseq.name_2=NM_031267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G256G;refseq.proteinCoordStr_2=p.G256G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-444;refseq.spliceDist_2=-444;refseq.start_1=39957533;refseq.start_2=39957533;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/1 chr7 39993837 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=6.25296e-07;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1326A>C;refseq.codingCoordStr_2=c.1326A>C;refseq.codonCoord_1=442;refseq.codonCoord_2=442;refseq.end_1=39993837;refseq.end_2=39993837;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1608;refseq.name2_1=CDK13;refseq.name2_2=CDK13;refseq.name_1=NM_003718;refseq.name_2=NM_031267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T442T;refseq.proteinCoordStr_2=p.T442T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.start_1=39993837;refseq.start_2=39993837;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr7 41695990 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1064C>G;refseq.codonCoord=355;refseq.end=41695990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_002192;refseq.name2=INHBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P355R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=676;refseq.start=41695990;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 0/1 chr7 41696048 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1006A>G;refseq.codonCoord=336;refseq.end=41696048;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_002192;refseq.name2=INHBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N336D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=618;refseq.start=41696048;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr7 41972112 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.85;MQ0=0;OQ=492.94;QD=19.72;RankSumP=0.745950;SB=-88.32;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3084C>T;refseq.codonCoord=1028;refseq.end=41972112;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3175;refseq.name=NM_000168;refseq.name2=GLI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1028S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=653;refseq.start=41972112;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr7 41972113 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.85;MQ0=0;OQ=483.02;QD=19.32;RankSumP=0.148801;SB=-83.76;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3083G>T;refseq.codonCoord=1028;refseq.end=41972113;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3174;refseq.name=NM_000168;refseq.name2=GLI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1028I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=652;refseq.start=41972113;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr7 42054747 . T C 288.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=5287.04;QD=35.48;RankSumP=1.00000;SB=-344.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.547A>G;refseq.codonCoord=183;refseq.end=42054747;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_000168;refseq.name2=GLI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T183A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=74;refseq.start=42054747;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 42943616 . G A 394.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=92.42;MQ0=0;OQ=6798.43;QD=42.49;RankSumP=1.00000;SB=-3251.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=42943616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_031903;refseq.name2=MRPL32;refseq.positionType=CDS;refseq.proteinCoordStr=p.T161T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=171;refseq.start=42943616;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 43450835 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=481.16;QD=19.25;RankSumP=0.442940;SB=-247.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1539T>C;refseq.codonCoord=513;refseq.end=43450835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2144;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S513S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=494;refseq.start=43450835;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr7 43451436 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=312;Dels=0.00;HRun=2;HaplotypeScore=40.53;MQ=97.35;MQ0=0;OQ=140.15;QD=0.45;RankSumP=0.00000;SB=447.14;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2140G>C;refseq.codonCoord=714;refseq.end=43451436;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2745;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A714P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-259;refseq.start=43451436;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 43472584 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=3;HaplotypeScore=2.47;MQ=98.50;MQ0=0;OQ=11236.95;QD=41.93;RankSumP=1.00000;SB=-4125.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2805A>G;refseq.codonCoord=935;refseq.end=43472584;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3410;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E935E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=14;refseq.start=43472584;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr7 43472683 . T C 193.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=12.01;MQ=98.79;MQ0=0;OQ=16640.21;QD=38.34;RankSumP=1.00000;SB=-7857.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2904T>C;refseq.codonCoord=968;refseq.end=43472683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3509;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H968H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=43472683;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr7 43485862 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=631;Dels=0.00;HRun=1;HaplotypeScore=14.18;MQ=98.91;MQ0=0;OQ=10588.92;QD=16.78;RankSumP=0.00419465;SB=-3967.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3228T>C;refseq.codonCoord=1076;refseq.end=43485862;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3833;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1076A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=43485862;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/0 chr7 43558357 . G A 106.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=1;HaplotypeScore=7.89;MQ=98.85;MQ0=0;OQ=6451.60;QD=21.01;RankSumP=0.0864711;SB=-1430.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.4407G>A;refseq.codonCoord=1469;refseq.end=43558357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5012;refseq.name=NM_015052;refseq.name2=HECW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1469S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=12;refseq.start=43558357;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr7 43614404 . C T 184.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.67;MQ0=0;OQ=2500.76;QD=15.53;RankSumP=0.387048;SB=-1064.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.444C>T;refseq.codonCoord=148;refseq.end=43614404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=595;refseq.name=NM_004760;refseq.name2=STK17A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D148D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=25;refseq.start=43614404;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr7 43630723 . A G 307.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=98.81;MQ0=0;OQ=5368.67;QD=20.57;RankSumP=0.411321;SB=-1892.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1002A>G;refseq.codonCoord=334;refseq.end=43630723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1153;refseq.name=NM_004760;refseq.name2=STK17A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E334E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=82;refseq.start=43630723;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr7 43630805 . A G 345.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.88;MQ0=0;OQ=4557.44;QD=18.68;RankSumP=0.372152;SB=-1518.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1084A>G;refseq.codonCoord=362;refseq.end=43630805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1235;refseq.name=NM_004760;refseq.name2=STK17A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K362E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=164;refseq.start=43630805;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr7 43777289 . G A 351.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.46;MQ0=0;OQ=4008.15;QD=18.14;RankSumP=0.254739;SB=-1660.69;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.7G>A;refseq.codonCoord=3;refseq.end=43777289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=90;refseq.name=NM_000712;refseq.name2=BLVRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=43777289;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 43873038 . A G 327.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=98.53;MQ0=0;OQ=4565.94;QD=16.60;RankSumP=0.0509797;SB=-1675.01;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.289T>C;refseq.codonCoord=97;refseq.end=43873038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_032014;refseq.name2=MRPS24;refseq.positionType=CDS;refseq.proteinCoordStr=p.W97R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=69;refseq.start=43873038;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr7 43883252 . T G 218.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=4.22;MQ=98.80;MQ0=0;OQ=5165.55;QD=20.10;RankSumP=0.0169666;SB=-1129.47;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.2335A>C;refseq.codingCoordStr_2=c.2206A>C;refseq.codingCoordStr_3=c.2308A>C;refseq.codonCoord_1=779;refseq.codonCoord_2=736;refseq.codonCoord_3=770;refseq.end_1=43883252;refseq.end_2=43883252;refseq.end_3=43883252;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2392;refseq.mrnaCoord_2=2587;refseq.mrnaCoord_3=2365;refseq.name2_1=URGCP;refseq.name2_2=URGCP;refseq.name2_3=URGCP;refseq.name_1=NM_001077663;refseq.name_2=NM_001077664;refseq.name_3=NM_017920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M779L;refseq.proteinCoordStr_2=p.M736L;refseq.proteinCoordStr_3=p.M770L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-1227;refseq.spliceDist_2=-1227;refseq.spliceDist_3=-1227;refseq.start_1=43883252;refseq.start_2=43883252;refseq.start_3=43883252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr7 43883538 . G A 353.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=6.43;MQ=98.44;MQ0=0;OQ=4943.37;QD=20.51;RankSumP=0.117421;SB=-1672.66;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.2049C>T;refseq.codingCoordStr_2=c.1920C>T;refseq.codingCoordStr_3=c.2022C>T;refseq.codonCoord_1=683;refseq.codonCoord_2=640;refseq.codonCoord_3=674;refseq.end_1=43883538;refseq.end_2=43883538;refseq.end_3=43883538;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2106;refseq.mrnaCoord_2=2301;refseq.mrnaCoord_3=2079;refseq.name2_1=URGCP;refseq.name2_2=URGCP;refseq.name2_3=URGCP;refseq.name_1=NM_001077663;refseq.name_2=NM_001077664;refseq.name_3=NM_017920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H683H;refseq.proteinCoordStr_2=p.H640H;refseq.proteinCoordStr_3=p.H674H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-1513;refseq.spliceDist_2=-1513;refseq.spliceDist_3=-1513;refseq.start_1=43883538;refseq.start_2=43883538;refseq.start_3=43883538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr7 43883799 . A G 80.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=10.48;MQ=98.93;MQ0=0;OQ=4741.47;QD=25.63;RankSumP=1.00000;SB=-608.13;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1788T>C;refseq.codingCoordStr_2=c.1659T>C;refseq.codingCoordStr_3=c.1761T>C;refseq.codonCoord_1=596;refseq.codonCoord_2=553;refseq.codonCoord_3=587;refseq.end_1=43883799;refseq.end_2=43883799;refseq.end_3=43883799;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1845;refseq.mrnaCoord_2=2040;refseq.mrnaCoord_3=1818;refseq.name2_1=URGCP;refseq.name2_2=URGCP;refseq.name2_3=URGCP;refseq.name_1=NM_001077663;refseq.name_2=NM_001077664;refseq.name_3=NM_017920;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H596H;refseq.proteinCoordStr_2=p.H553H;refseq.proteinCoordStr_3=p.H587H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=1586;refseq.spliceDist_2=1586;refseq.spliceDist_3=1586;refseq.start_1=43883799;refseq.start_2=43883799;refseq.start_3=43883799;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr7 44013466 . A C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.0827173;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.707A>C;refseq.codonCoord_2=236;refseq.end_1=44019706;refseq.end_2=44013466;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=843;refseq.name2_1=POLR2J4;refseq.name2_2=SPDYE1;refseq.name_1=NR_003655;refseq.name_2=NM_175064;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N236T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=75;refseq.start_1=43994382;refseq.start_2=44013466;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr7 44071578 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.76T>G;refseq.codonCoord=26;refseq.end=44071578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_000290;refseq.name2=PGAM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F26V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=134;refseq.start=44071578;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr7 44080043 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1178G>C;refseq.codonCoord=393;refseq.end=44080043;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_013284;refseq.name2=POLM;refseq.positionType=CDS;refseq.proteinCoordStr=p.R393P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=107;refseq.start=44080043;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 44115078 . A G 153.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1095.53;QD=37.78;RankSumP=1.00000;SB=-483.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.996A>G;refseq.codonCoord=332;refseq.end=44115078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1301;refseq.name=NM_001129;refseq.name2=AEBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T332T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-23;refseq.start=44115078;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 44120305 . A G 331.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.90;MQ0=0;OQ=5107.25;QD=39.59;RankSumP=1.00000;SB=-2294.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3397A>G;refseq.codonCoord=1133;refseq.end=44120305;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3702;refseq.name=NM_001129;refseq.name2=AEBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1133E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-380;refseq.start=44120305;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr7 44226231 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=96.70;MQ0=0;OQ=568.71;QD=13.54;RankSumP=0.725260;SB=-145.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.1956C>T;refseq.codingCoordStr_2=c.1584C>T;refseq.codingCoordStr_3=c.1512C>T;refseq.codingCoordStr_4=c.1509C>T;refseq.codingCoordStr_5=c.1467C>T;refseq.codingCoordStr_6=c.1434C>T;refseq.codingCoordStr_7=c.1395C>T;refseq.codingCoordStr_8=c.1305C>T;refseq.codonCoord_1=652;refseq.codonCoord_2=528;refseq.codonCoord_3=504;refseq.codonCoord_4=503;refseq.codonCoord_5=489;refseq.codonCoord_6=478;refseq.codonCoord_7=465;refseq.codonCoord_8=435;refseq.end_1=44226231;refseq.end_2=44226231;refseq.end_3=44226231;refseq.end_4=44226231;refseq.end_5=44226231;refseq.end_6=44226231;refseq.end_7=44226231;refseq.end_8=44226231;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2166;refseq.mrnaCoord_2=1794;refseq.mrnaCoord_3=1722;refseq.mrnaCoord_4=1719;refseq.mrnaCoord_5=1677;refseq.mrnaCoord_6=1644;refseq.mrnaCoord_7=1605;refseq.mrnaCoord_8=1515;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_001220;refseq.name_2=NM_172078;refseq.name_3=NM_172079;refseq.name_4=NM_172080;refseq.name_5=NM_172081;refseq.name_6=NM_172082;refseq.name_7=NM_172083;refseq.name_8=NM_172084;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.N652N;refseq.proteinCoordStr_2=p.N528N;refseq.proteinCoordStr_3=p.N504N;refseq.proteinCoordStr_4=p.N503N;refseq.proteinCoordStr_5=p.N489N;refseq.proteinCoordStr_6=p.N478N;refseq.proteinCoordStr_7=p.N465N;refseq.proteinCoordStr_8=p.N435N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceAA_8=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.referenceCodon_7=AAC;refseq.referenceCodon_8=AAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.spliceDist_5=-48;refseq.spliceDist_6=-48;refseq.spliceDist_7=-48;refseq.spliceDist_8=-48;refseq.start_1=44226231;refseq.start_2=44226231;refseq.start_3=44226231;refseq.start_4=44226231;refseq.start_5=44226231;refseq.start_6=44226231;refseq.start_7=44226231;refseq.start_8=44226231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;refseq.variantCodon_6=AAT;refseq.variantCodon_7=AAT;refseq.variantCodon_8=AAT;set=Intersection GT 1/0 chr7 44226287 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=8.24391e-08;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.1900A>C;refseq.codingCoordStr_2=c.1528A>C;refseq.codingCoordStr_3=c.1456A>C;refseq.codingCoordStr_4=c.1453A>C;refseq.codingCoordStr_5=c.1411A>C;refseq.codingCoordStr_6=c.1378A>C;refseq.codingCoordStr_7=c.1339A>C;refseq.codingCoordStr_8=c.1249A>C;refseq.codonCoord_1=634;refseq.codonCoord_2=510;refseq.codonCoord_3=486;refseq.codonCoord_4=485;refseq.codonCoord_5=471;refseq.codonCoord_6=460;refseq.codonCoord_7=447;refseq.codonCoord_8=417;refseq.end_1=44226287;refseq.end_2=44226287;refseq.end_3=44226287;refseq.end_4=44226287;refseq.end_5=44226287;refseq.end_6=44226287;refseq.end_7=44226287;refseq.end_8=44226287;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2110;refseq.mrnaCoord_2=1738;refseq.mrnaCoord_3=1666;refseq.mrnaCoord_4=1663;refseq.mrnaCoord_5=1621;refseq.mrnaCoord_6=1588;refseq.mrnaCoord_7=1549;refseq.mrnaCoord_8=1459;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_001220;refseq.name_2=NM_172078;refseq.name_3=NM_172079;refseq.name_4=NM_172080;refseq.name_5=NM_172081;refseq.name_6=NM_172082;refseq.name_7=NM_172083;refseq.name_8=NM_172084;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T634P;refseq.proteinCoordStr_2=p.T510P;refseq.proteinCoordStr_3=p.T486P;refseq.proteinCoordStr_4=p.T485P;refseq.proteinCoordStr_5=p.T471P;refseq.proteinCoordStr_6=p.T460P;refseq.proteinCoordStr_7=p.T447P;refseq.proteinCoordStr_8=p.T417P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.referenceCodon_7=ACC;refseq.referenceCodon_8=ACC;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.spliceDist_3=-104;refseq.spliceDist_4=-104;refseq.spliceDist_5=-104;refseq.spliceDist_6=-104;refseq.spliceDist_7=-104;refseq.spliceDist_8=-104;refseq.start_1=44226287;refseq.start_2=44226287;refseq.start_3=44226287;refseq.start_4=44226287;refseq.start_5=44226287;refseq.start_6=44226287;refseq.start_7=44226287;refseq.start_8=44226287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;set=FilteredInAll GT 1/0 chr7 44226396 . C T 115.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=10.05;MQ=98.12;MQ0=0;OQ=4298.98;QD=18.94;RankSumP=0.231461;SB=-929.38;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.1791G>A;refseq.codingCoordStr_2=c.1419G>A;refseq.codingCoordStr_3=c.1347G>A;refseq.codingCoordStr_4=c.1344G>A;refseq.codingCoordStr_5=c.1302G>A;refseq.codingCoordStr_6=c.1269G>A;refseq.codingCoordStr_7=c.1230G>A;refseq.codingCoordStr_8=c.1140G>A;refseq.codonCoord_1=597;refseq.codonCoord_2=473;refseq.codonCoord_3=449;refseq.codonCoord_4=448;refseq.codonCoord_5=434;refseq.codonCoord_6=423;refseq.codonCoord_7=410;refseq.codonCoord_8=380;refseq.end_1=44226396;refseq.end_2=44226396;refseq.end_3=44226396;refseq.end_4=44226396;refseq.end_5=44226396;refseq.end_6=44226396;refseq.end_7=44226396;refseq.end_8=44226396;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2001;refseq.mrnaCoord_2=1629;refseq.mrnaCoord_3=1557;refseq.mrnaCoord_4=1554;refseq.mrnaCoord_5=1512;refseq.mrnaCoord_6=1479;refseq.mrnaCoord_7=1440;refseq.mrnaCoord_8=1350;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_001220;refseq.name_2=NM_172078;refseq.name_3=NM_172079;refseq.name_4=NM_172080;refseq.name_5=NM_172081;refseq.name_6=NM_172082;refseq.name_7=NM_172083;refseq.name_8=NM_172084;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.P597P;refseq.proteinCoordStr_2=p.P473P;refseq.proteinCoordStr_3=p.P449P;refseq.proteinCoordStr_4=p.P448P;refseq.proteinCoordStr_5=p.P434P;refseq.proteinCoordStr_6=p.P423P;refseq.proteinCoordStr_7=p.P410P;refseq.proteinCoordStr_8=p.P380P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.referenceCodon_6=CCG;refseq.referenceCodon_7=CCG;refseq.referenceCodon_8=CCG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.spliceDist_5=23;refseq.spliceDist_6=23;refseq.spliceDist_7=23;refseq.spliceDist_8=23;refseq.start_1=44226396;refseq.start_2=44226396;refseq.start_3=44226396;refseq.start_4=44226396;refseq.start_5=44226396;refseq.start_6=44226396;refseq.start_7=44226396;refseq.start_8=44226396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;refseq.variantCodon_8=CCA;set=Intersection GT 0/1 chr7 44232659 . A G 30.75 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=8;Dels=0.00;HRun=3;HaplotypeScore=1.27;MQ=99.00;MQ0=0;QD=3.84;RankSumP=0.571429;SB=-33.91;SecondBestBaseQ=34;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_8=c.1578T>C;refseq.codonCoord_8=526;refseq.end_1=44237119;refseq.end_2=44237119;refseq.end_3=44237119;refseq.end_4=44237119;refseq.end_5=44237119;refseq.end_6=44237119;refseq.end_7=44246820;refseq.end_8=44232659;refseq.frame_8=2;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=true;refseq.mrnaCoord_8=1788;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_172078;refseq.name_2=NM_172079;refseq.name_3=NM_172080;refseq.name_4=NM_172081;refseq.name_5=NM_172082;refseq.name_6=NM_172083;refseq.name_7=NM_172084;refseq.name_8=NM_001220;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=CDS;refseq.proteinCoordStr_8=p.P526P;refseq.referenceAA_8=Pro;refseq.referenceCodon_8=CCT;refseq.spliceDist_8=-20;refseq.start_1=44227036;refseq.start_2=44227036;refseq.start_3=44227036;refseq.start_4=44227036;refseq.start_5=44227036;refseq.start_6=44227036;refseq.start_7=44227036;refseq.start_8=44232659;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_8=Pro;refseq.variantCodon_8=CCC;set=FilteredInAll GT 0/1 chr7 44249393 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=178;Dels=0.00;HRun=2;HaplotypeScore=10.93;MQ=98.15;MQ0=0;OQ=2362.55;QD=13.27;RankSumP=0.0762960;SB=-704.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.582T>C;refseq.codingCoordStr_2=c.582T>C;refseq.codingCoordStr_3=c.582T>C;refseq.codingCoordStr_4=c.582T>C;refseq.codingCoordStr_5=c.582T>C;refseq.codingCoordStr_6=c.582T>C;refseq.codingCoordStr_7=c.582T>C;refseq.codingCoordStr_8=c.582T>C;refseq.codonCoord_1=194;refseq.codonCoord_2=194;refseq.codonCoord_3=194;refseq.codonCoord_4=194;refseq.codonCoord_5=194;refseq.codonCoord_6=194;refseq.codonCoord_7=194;refseq.codonCoord_8=194;refseq.end_1=44249393;refseq.end_2=44249393;refseq.end_3=44249393;refseq.end_4=44249393;refseq.end_5=44249393;refseq.end_6=44249393;refseq.end_7=44249393;refseq.end_8=44249393;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=792;refseq.mrnaCoord_3=792;refseq.mrnaCoord_4=792;refseq.mrnaCoord_5=792;refseq.mrnaCoord_6=792;refseq.mrnaCoord_7=792;refseq.mrnaCoord_8=792;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_001220;refseq.name_2=NM_172078;refseq.name_3=NM_172079;refseq.name_4=NM_172080;refseq.name_5=NM_172081;refseq.name_6=NM_172082;refseq.name_7=NM_172083;refseq.name_8=NM_172084;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.P194P;refseq.proteinCoordStr_2=p.P194P;refseq.proteinCoordStr_3=p.P194P;refseq.proteinCoordStr_4=p.P194P;refseq.proteinCoordStr_5=p.P194P;refseq.proteinCoordStr_6=p.P194P;refseq.proteinCoordStr_7=p.P194P;refseq.proteinCoordStr_8=p.P194P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.referenceCodon_7=CCT;refseq.referenceCodon_8=CCT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.spliceDist_5=-20;refseq.spliceDist_6=-20;refseq.spliceDist_7=-20;refseq.spliceDist_8=-20;refseq.start_1=44249393;refseq.start_2=44249393;refseq.start_3=44249393;refseq.start_4=44249393;refseq.start_5=44249393;refseq.start_6=44249393;refseq.start_7=44249393;refseq.start_8=44249393;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;set=Intersection GT 0/1 chr7 44249402 . A G 138.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=8.73;MQ=98.46;MQ0=0;OQ=2907.47;QD=14.32;RankSumP=0.00528106;SB=-1108.83;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.573T>C;refseq.codingCoordStr_2=c.573T>C;refseq.codingCoordStr_3=c.573T>C;refseq.codingCoordStr_4=c.573T>C;refseq.codingCoordStr_5=c.573T>C;refseq.codingCoordStr_6=c.573T>C;refseq.codingCoordStr_7=c.573T>C;refseq.codingCoordStr_8=c.573T>C;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.codonCoord_4=191;refseq.codonCoord_5=191;refseq.codonCoord_6=191;refseq.codonCoord_7=191;refseq.codonCoord_8=191;refseq.end_1=44249402;refseq.end_2=44249402;refseq.end_3=44249402;refseq.end_4=44249402;refseq.end_5=44249402;refseq.end_6=44249402;refseq.end_7=44249402;refseq.end_8=44249402;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=783;refseq.mrnaCoord_2=783;refseq.mrnaCoord_3=783;refseq.mrnaCoord_4=783;refseq.mrnaCoord_5=783;refseq.mrnaCoord_6=783;refseq.mrnaCoord_7=783;refseq.mrnaCoord_8=783;refseq.name2_1=CAMK2B;refseq.name2_2=CAMK2B;refseq.name2_3=CAMK2B;refseq.name2_4=CAMK2B;refseq.name2_5=CAMK2B;refseq.name2_6=CAMK2B;refseq.name2_7=CAMK2B;refseq.name2_8=CAMK2B;refseq.name_1=NM_001220;refseq.name_2=NM_172078;refseq.name_3=NM_172079;refseq.name_4=NM_172080;refseq.name_5=NM_172081;refseq.name_6=NM_172082;refseq.name_7=NM_172083;refseq.name_8=NM_172084;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.Y191Y;refseq.proteinCoordStr_2=p.Y191Y;refseq.proteinCoordStr_3=p.Y191Y;refseq.proteinCoordStr_4=p.Y191Y;refseq.proteinCoordStr_5=p.Y191Y;refseq.proteinCoordStr_6=p.Y191Y;refseq.proteinCoordStr_7=p.Y191Y;refseq.proteinCoordStr_8=p.Y191Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.referenceCodon_6=TAT;refseq.referenceCodon_7=TAT;refseq.referenceCodon_8=TAT;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.spliceDist_5=-29;refseq.spliceDist_6=-29;refseq.spliceDist_7=-29;refseq.spliceDist_8=-29;refseq.start_1=44249402;refseq.start_2=44249402;refseq.start_3=44249402;refseq.start_4=44249402;refseq.start_5=44249402;refseq.start_6=44249402;refseq.start_7=44249402;refseq.start_8=44249402;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantAA_8=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;refseq.variantCodon_6=TAC;refseq.variantCodon_7=TAC;refseq.variantCodon_8=TAC;set=filterInsoap-gatk GT 0/1 chr7 44545554 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=3.44167e-05;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.967A>C;refseq.codingCoordStr_2=c.967A>C;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=44545554;refseq.end_2=44545554;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1023;refseq.name2_1=NPC1L1;refseq.name2_2=NPC1L1;refseq.name_1=NM_001101648;refseq.name_2=NM_013389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T323P;refseq.proteinCoordStr_2=p.T323P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-614;refseq.spliceDist_2=-614;refseq.start_1=44545554;refseq.start_2=44545554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr7 44546150 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.371A>C;refseq.codingCoordStr_2=c.371A>C;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=44546150;refseq.end_2=44546150;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=427;refseq.mrnaCoord_2=427;refseq.name2_1=NPC1L1;refseq.name2_2=NPC1L1;refseq.name_1=NM_001101648;refseq.name_2=NM_013389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H124P;refseq.proteinCoordStr_2=p.H124P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=317;refseq.spliceDist_2=317;refseq.start_1=44546150;refseq.start_2=44546150;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr7 44766701 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=705;Dels=0.00;HRun=2;HaplotypeScore=12.54;MQ=98.60;MQ0=0;OQ=11030.84;QD=15.65;RankSumP=0.243292;SB=-4192.77;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1224G>T;refseq.codingCoordStr_2=c.1146G>T;refseq.codonCoord_1=408;refseq.codonCoord_2=382;refseq.end_1=44766701;refseq.end_2=44766701;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1347;refseq.mrnaCoord_2=1208;refseq.name2_1=ZMIZ2;refseq.name2_2=ZMIZ2;refseq.name_1=NM_031449;refseq.name_2=NM_174929;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L408F;refseq.proteinCoordStr_2=p.L382F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=44766701;refseq.start_2=44766701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr7 44802890 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.392201;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.42C>T;refseq.codonCoord=14;refseq.end=44802890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_021130;refseq.name2=PPIA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G14G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-28;refseq.start=44802890;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr7 44840638 . T C 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.353907;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.374A>G;refseq.codingCoordStr_3=c.296A>G;refseq.codingCoordStr_4=c.*43A>G;refseq.codingCoordStr_5=c.260A>G;refseq.codonCoord_2=125;refseq.codonCoord_3=99;refseq.codonCoord_5=87;refseq.end_1=44841642;refseq.end_2=44840638;refseq.end_3=44840638;refseq.end_4=44840638;refseq.end_5=44840638;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=529;refseq.mrnaCoord_3=451;refseq.mrnaCoord_4=399;refseq.mrnaCoord_5=415;refseq.name2_1=H2AFV;refseq.name2_2=H2AFV;refseq.name2_3=H2AFV;refseq.name2_4=H2AFV;refseq.name2_5=H2AFV;refseq.name_1=NM_138635;refseq.name_2=NM_012412;refseq.name_3=NM_201436;refseq.name_4=NM_201516;refseq.name_5=NM_201517;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.Q125R;refseq.proteinCoordStr_3=p.Q99R;refseq.proteinCoordStr_5=p.Q87R;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_5=CAG;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.spliceDist_4=49;refseq.spliceDist_5=49;refseq.start_1=44836298;refseq.start_2=44840638;refseq.start_3=44840638;refseq.start_4=44840638;refseq.start_5=44840638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_5=CGG;set=soap GT 1/0 chr7 44840656 . A G 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=186;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=91.54;MQ0=6;QD=0.17;RankSumP=0.300349;SB=-42.03;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.356T>C;refseq.codingCoordStr_3=c.278T>C;refseq.codingCoordStr_4=c.*25T>C;refseq.codingCoordStr_5=c.242T>C;refseq.codonCoord_2=119;refseq.codonCoord_3=93;refseq.codonCoord_5=81;refseq.end_1=44841642;refseq.end_2=44840656;refseq.end_3=44840656;refseq.end_4=44840656;refseq.end_5=44840656;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=511;refseq.mrnaCoord_3=433;refseq.mrnaCoord_4=381;refseq.mrnaCoord_5=397;refseq.name2_1=H2AFV;refseq.name2_2=H2AFV;refseq.name2_3=H2AFV;refseq.name2_4=H2AFV;refseq.name2_5=H2AFV;refseq.name_1=NM_138635;refseq.name_2=NM_012412;refseq.name_3=NM_201436;refseq.name_4=NM_201516;refseq.name_5=NM_201517;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.I119T;refseq.proteinCoordStr_3=p.I93T;refseq.proteinCoordStr_5=p.I81T;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_5=Ile;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_5=ATT;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.spliceDist_5=31;refseq.start_1=44836298;refseq.start_2=44840656;refseq.start_3=44840656;refseq.start_4=44840656;refseq.start_5=44840656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_5=ACT;set=soap-filterIngatk GT 0/1 chr7 44891152 . A C 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=13;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=94.39;MQ0=0;OQ=318.45;QD=24.50;RankSumP=1.00000;SB=-170.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.321T>G;refseq.codonCoord=107;refseq.end=44891152;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_033224;refseq.name2=PURB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A107A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=334;refseq.start=44891152;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr7 44970588 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=314;Dels=0.00;HRun=2;HaplotypeScore=6.97;MQ=98.43;MQ0=0;OQ=10801.88;QD=34.40;RankSumP=1.00000;SB=-4891.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2582A>G;refseq.codonCoord=861;refseq.end=44970588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2726;refseq.name=NM_033054;refseq.name2=MYO1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q861R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-50;refseq.start=44970588;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr7 44975850 . G A 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=95.20;MQ0=0;OQ=1320.13;QD=29.34;RankSumP=1.00000;SB=-618.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1482C>T;refseq.codonCoord=494;refseq.end=44975850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1626;refseq.name=NM_033054;refseq.name2=MYO1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.H494H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-22;refseq.start=44975850;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr7 44975866 . A G 204.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=9.56;MQ=95.53;MQ0=0;OQ=1075.27;QD=21.51;RankSumP=1.00000;SB=-326.48;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1466T>C;refseq.codonCoord=489;refseq.end=44975866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_033054;refseq.name2=MYO1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.M489T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-38;refseq.start=44975866;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 44976248 . G A 192.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.15;MQ0=0;OQ=6796.16;QD=39.28;RankSumP=1.00000;SB=-2749.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1248C>T;refseq.codonCoord=416;refseq.end=44976248;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_033054;refseq.name2=MYO1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.N416N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=31;refseq.start=44976248;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 44982758 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.328G>A;refseq.codonCoord=110;refseq.end=44982758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_033054;refseq.name2=MYO1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=24;refseq.start=44982758;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr7 45079695 . G A 122.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.87;MQ0=0;OQ=979.42;QD=22.26;RankSumP=0.588666;SB=-238.94;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.978G>A;refseq.codingCoordStr_3=c.741G>A;refseq.codingCoordStr_4=c.642G>A;refseq.codingCoordStr_5=c.915G>A;refseq.codonCoord_2=326;refseq.codonCoord_3=247;refseq.codonCoord_4=214;refseq.codonCoord_5=305;refseq.end_1=45079695;refseq.end_2=45079695;refseq.end_3=45079695;refseq.end_4=45079695;refseq.end_5=45079695;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=997;refseq.mrnaCoord_2=1049;refseq.mrnaCoord_3=887;refseq.mrnaCoord_4=788;refseq.mrnaCoord_5=1061;refseq.name2_1=CCM2;refseq.name2_2=CCM2;refseq.name2_3=CCM2;refseq.name2_4=CCM2;refseq.name2_5=CCM2;refseq.name_1=NR_030770;refseq.name_2=NM_001029835;refseq.name_3=NM_001167934;refseq.name_4=NM_001167935;refseq.name_5=NM_031443;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.T326T;refseq.proteinCoordStr_3=p.T247T;refseq.proteinCoordStr_4=p.T214T;refseq.proteinCoordStr_5=p.T305T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceDist_5=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.spliceInfo_5=splice-donor_-1;refseq.start_1=45079695;refseq.start_2=45079695;refseq.start_3=45079695;refseq.start_4=45079695;refseq.start_5=45079695;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 1/0 chr7 45107439 . C T 464.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.17;MQ0=0;OQ=4670.33;QD=40.26;RankSumP=1.00000;SB=-2309.42;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1737G>A;refseq.codingCoordStr_2=c.1407G>A;refseq.codingCoordStr_3=c.1407G>A;refseq.codonCoord_1=579;refseq.codonCoord_2=469;refseq.codonCoord_3=469;refseq.end_1=45107439;refseq.end_2=45107439;refseq.end_3=45107439;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1863;refseq.mrnaCoord_2=1533;refseq.mrnaCoord_3=1512;refseq.name2_1=TBRG4;refseq.name2_2=TBRG4;refseq.name2_3=TBRG4;refseq.name_1=NM_004749;refseq.name_2=NM_030900;refseq.name_3=NM_199122;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L579L;refseq.proteinCoordStr_2=p.L469L;refseq.proteinCoordStr_3=p.L469L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=45107439;refseq.start_2=45107439;refseq.start_3=45107439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr7 45107954 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1562T>G;refseq.codingCoordStr_2=c.1232T>G;refseq.codingCoordStr_3=c.1232T>G;refseq.codonCoord_1=521;refseq.codonCoord_2=411;refseq.codonCoord_3=411;refseq.end_1=45107954;refseq.end_2=45107954;refseq.end_3=45107954;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1688;refseq.mrnaCoord_2=1358;refseq.mrnaCoord_3=1337;refseq.name2_1=TBRG4;refseq.name2_2=TBRG4;refseq.name2_3=TBRG4;refseq.name_1=NM_004749;refseq.name_2=NM_030900;refseq.name_3=NM_199122;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V521G;refseq.proteinCoordStr_2=p.V411G;refseq.proteinCoordStr_3=p.V411G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=45107954;refseq.start_2=45107954;refseq.start_3=45107954;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr7 45163958 . G A 42.36 LowQual AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=94.89;MQ0=0;QD=6.05;SB=-45.55;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.6G>A;refseq.codonCoord=2;refseq.end=45163958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=67;refseq.name=NM_005856;refseq.name2=RAMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-53;refseq.start=45163958;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3,4:3:-8.42,-0.90,-4.20:32.93 chr7 45668287 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.75;MQ0=0;OQ=2092.53;QD=16.10;RankSumP=0.279464;SB=-945.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1554C>T;refseq.codonCoord=518;refseq.end=45668287;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1572;refseq.name=NM_021116;refseq.name2=ADCY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F518F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-52;refseq.start=45668287;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr7 45719849 . G A 234.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.53;MQ0=0;OQ=4466.55;QD=19.42;RankSumP=0.0200908;SB=-1349.80;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3090G>A;refseq.codonCoord=1030;refseq.end=45719849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3108;refseq.name=NM_021116;refseq.name2=ADCY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1030R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=33;refseq.start=45719849;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr7 45926848 . C A 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=83.84;QD=27.95;RankSumP=1.00000;SB=-50.95;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.417G>T;refseq.codonCoord_2=139;refseq.end_1=45926851;refseq.end_2=45926848;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=549;refseq.name2_1=IGFBP3;refseq.name2_2=IGFBP3;refseq.name_1=NM_000598;refseq.name_2=NM_001013398;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A139A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=45923574;refseq.start_2=45926848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/1 chr7 47289981 . A G 335.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=12.48;MQ=98.78;MQ0=0;OQ=6759.08;QD=18.02;RankSumP=0.405647;SB=-2216.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3936T>C;refseq.codonCoord=1312;refseq.end=47289981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4303;refseq.name=NM_022748;refseq.name2=TNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1312N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=47289981;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr7 47352347 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2414A>C;refseq.codonCoord=805;refseq.end=47352347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2781;refseq.name=NM_022748;refseq.name2=TNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N805T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-38;refseq.start=47352347;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 47374554 . A G 177.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=97.63;MQ0=0;OQ=3007.21;QD=30.69;RankSumP=1.00000;SB=-1083.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2214T>C;refseq.codonCoord=738;refseq.end=47374554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2581;refseq.name=NM_022748;refseq.name2=TNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G738G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-68;refseq.start=47374554;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr7 47375237 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1531A>C;refseq.codonCoord=511;refseq.end=47375237;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_022748;refseq.name2=TNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T511P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=507;refseq.start=47375237;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 47375499 . T A 78.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=389;Dels=0.00;HRun=0;HaplotypeScore=19.06;MQ=98.61;MQ0=0;OQ=15201.87;QD=39.08;RankSumP=1.00000;SB=-5155.01;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1269A>T;refseq.codonCoord=423;refseq.end=47375499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_022748;refseq.name2=TNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A423A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=245;refseq.start=47375499;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 47836177 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6544A>C;refseq.codonCoord=2182;refseq.end=47836177;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6544;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2182P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=47836177;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 47839370 . A G 88.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=2;HaplotypeScore=1.85;MQ=98.55;MQ0=0;OQ=3956.95;QD=34.11;RankSumP=1.00000;SB=-1155.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.6180T>C;refseq.codonCoord=2060;refseq.end=47839370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6180;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2060P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=47839370;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr7 47843145 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5842T>C;refseq.codonCoord=1948;refseq.end=47843145;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5842;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1948P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=73;refseq.start=47843145;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 47880104 . T C 321.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=339;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.73;MQ0=0;OQ=13433.41;QD=39.63;RankSumP=1.00000;SB=-4818.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3814A>G;refseq.codonCoord=1272;refseq.end=47880104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3814;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1272E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=30;refseq.start=47880104;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr7 47880105 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=332;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=98.72;MQ0=0;OQ=6395.85;QD=19.26;RankSumP=0.366842;SB=-1881.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3813C>T;refseq.codonCoord=1271;refseq.end=47880105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3813;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1271G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=29;refseq.start=47880105;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr7 47886870 . G A 178.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=11.85;MQ=98.44;MQ0=0;OQ=7875.64;QD=16.55;RankSumP=0.393386;SB=-2920.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3501C>T;refseq.codonCoord=1167;refseq.end=47886870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3501;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1167Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-20;refseq.start=47886870;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr7 47888207 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.21;MQ0=0;OQ=1138.94;QD=18.37;RankSumP=0.728483;SB=-434.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3267T>A;refseq.codonCoord=1089;refseq.end=47888207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3267;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1089A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=47888207;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr7 47891856 . C G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=2;HaplotypeScore=7.95;MQ=97.99;MQ0=0;OQ=5098.58;QD=45.12;RankSumP=1.00000;SB=-2412.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3158G>C;refseq.codonCoord=1053;refseq.end=47891856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3158;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1053P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-48;refseq.start=47891856;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr7 47935452 . C A 95.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.95;MQ0=0;OQ=7475.89;QD=39.14;RankSumP=1.00000;SB=-1677.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.934G>T;refseq.codonCoord=312;refseq.end=47935452;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-127;refseq.start=47935452;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr7 47938100 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=16.87;MQ=98.45;MQ0=0;OQ=5963.16;QD=27.48;RankSumP=1.00000;SB=-372.79;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=47938100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_138295;refseq.name2=PKD1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C159C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-43;refseq.start=47938100;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr7 47971487 . C T 431.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=4375.73;QD=41.67;RankSumP=1.00000;SB=-1902.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.834G>A;refseq.codonCoord=278;refseq.end=47971487;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_004507;refseq.name2=HUS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A278A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=74;refseq.start=47971487;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr7 48000452 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=193;Dels=0.00;HRun=2;HaplotypeScore=3.88;MQ=98.90;MQ0=0;OQ=3042.22;QD=15.76;RankSumP=0.259104;SB=-1374.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.846G>A;refseq.codingCoordStr_2=c.846G>A;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.end_1=48000452;refseq.end_2=48000452;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1027;refseq.mrnaCoord_2=943;refseq.name2_1=SUN3;refseq.name2_2=SUN3;refseq.name_1=NM_001030019;refseq.name_2=NM_152782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K282K;refseq.proteinCoordStr_2=p.K282K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=48000452;refseq.start_2=48000452;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr7 50563394 . T C 367.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=98.76;MQ0=0;OQ=5993.49;QD=18.38;RankSumP=0.368828;SB=-1813.52;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.649A>G;refseq.codingCoordStr_2=c.649A>G;refseq.codonCoord_1=217;refseq.codonCoord_2=217;refseq.end_1=50563394;refseq.end_2=50563394;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=850;refseq.name2_1=DDC;refseq.name2_2=DDC;refseq.name_1=NM_000790;refseq.name_2=NM_001082971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M217V;refseq.proteinCoordStr_2=p.M217V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=50563394;refseq.start_2=50563394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr7 50579229 . T C 382.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.20;MQ0=0;OQ=4517.93;QD=36.73;RankSumP=1.00000;SB=-1542.95;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.49A>G;refseq.codingCoordStr_2=c.49A>G;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=50579229;refseq.end_2=50579229;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=135;refseq.mrnaCoord_2=250;refseq.name2_1=DDC;refseq.name2_2=DDC;refseq.name_1=NM_000790;refseq.name_2=NM_001082971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M17V;refseq.proteinCoordStr_2=p.M17V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=50579229;refseq.start_2=50579229;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr7 50640523 . T C 169.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=2468.70;QD=34.29;RankSumP=1.00000;SB=-514.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1209A>G;refseq.codingCoordStr_2=c.1173A>G;refseq.codingCoordStr_3=c.1173A>G;refseq.codingCoordStr_4=c.1347A>G;refseq.codonCoord_1=403;refseq.codonCoord_2=391;refseq.codonCoord_3=391;refseq.codonCoord_4=449;refseq.end_1=50640523;refseq.end_2=50640523;refseq.end_3=50640523;refseq.end_4=50640523;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1240;refseq.mrnaCoord_2=1458;refseq.mrnaCoord_3=1705;refseq.mrnaCoord_4=1378;refseq.name2_1=GRB10;refseq.name2_2=GRB10;refseq.name2_3=GRB10;refseq.name2_4=GRB10;refseq.name_1=NM_001001549;refseq.name_2=NM_001001550;refseq.name_3=NM_001001555;refseq.name_4=NM_005311;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A403A;refseq.proteinCoordStr_2=p.A391A;refseq.proteinCoordStr_3=p.A391A;refseq.proteinCoordStr_4=p.A449A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=50640523;refseq.start_2=50640523;refseq.start_3=50640523;refseq.start_4=50640523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/1 chr7 50709674 . C T 239.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=7.12;MQ=98.97;MQ0=0;OQ=3012.10;QD=16.64;RankSumP=0.311577;SB=-1327.32;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.315G>A;refseq.codingCoordStr_2=c.141G>A;refseq.codingCoordStr_3=c.141G>A;refseq.codingCoordStr_4=c.315G>A;refseq.codonCoord_1=105;refseq.codonCoord_2=47;refseq.codonCoord_3=47;refseq.codonCoord_4=105;refseq.end_1=50709674;refseq.end_2=50709674;refseq.end_3=50709674;refseq.end_4=50709674;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=346;refseq.mrnaCoord_2=426;refseq.mrnaCoord_3=673;refseq.mrnaCoord_4=346;refseq.name2_1=GRB10;refseq.name2_2=GRB10;refseq.name2_3=GRB10;refseq.name2_4=GRB10;refseq.name_1=NM_001001549;refseq.name_2=NM_001001550;refseq.name_3=NM_001001555;refseq.name_4=NM_005311;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P105P;refseq.proteinCoordStr_2=p.P47P;refseq.proteinCoordStr_3=p.P47P;refseq.proteinCoordStr_4=p.P105P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.start_1=50709674;refseq.start_2=50709674;refseq.start_3=50709674;refseq.start_4=50709674;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 0/1 chr7 51060459 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.000188457;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3609A>C;refseq.codonCoord=1203;refseq.end=51060459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3794;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1203P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=105;refseq.start=51060459;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 51060507 . A T 365.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.76;MQ0=0;OQ=6297.91;QD=35.78;RankSumP=1.00000;SB=-2255.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3561T>A;refseq.codonCoord=1187;refseq.end=51060507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3746;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1187A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=57;refseq.start=51060507;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr7 51063854 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.04719e-06;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2433C>A;refseq.codonCoord=811;refseq.end=51063854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2618;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P811P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=929;refseq.start=51063854;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr7 51064468 . C T 298.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=8.47;MQ=98.70;MQ0=0;OQ=12981.91;QD=41.21;RankSumP=1.00000;SB=-5040.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1819G>A;refseq.codonCoord=607;refseq.end=51064468;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2004;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V607I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=315;refseq.start=51064468;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr7 51064557 . T G 239.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=7.38;MQ=99.00;MQ0=0;OQ=4618.88;QD=38.49;RankSumP=1.00000;SB=-1708.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1730A>C;refseq.codonCoord=577;refseq.end=51064557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1915;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D577A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=226;refseq.start=51064557;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr7 51254964 . A G 307.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.86;MQ0=0;OQ=5054.47;QD=35.10;RankSumP=1.00000;SB=-2267.39;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.213T>C;refseq.codonCoord=71;refseq.end=51254964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_015198;refseq.name2=COBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S71S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-33;refseq.start=51254964;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr7 53071048 . C G 126.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=97.98;MQ0=0;OQ=6949.07;QD=45.12;RankSumP=1.00000;SB=-2807.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.190C>G;refseq.codonCoord=64;refseq.end=53071048;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_182595;refseq.name2=POM121L12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q64E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=206;refseq.start=53071048;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr7 53071065 . G A 125.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=14.82;MQ=97.40;MQ0=0;OQ=4276.50;QD=35.34;RankSumP=1.00000;SB=-1708.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.207G>A;refseq.codonCoord=69;refseq.end=53071065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_182595;refseq.name2=POM121L12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G69G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=223;refseq.start=53071065;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr7 53071440 . G C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=96.72;MQ0=0;OQ=2213.09;QD=40.24;RankSumP=1.00000;SB=-467.31;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.582G>C;refseq.codonCoord=194;refseq.end=53071440;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_182595;refseq.name2=POM121L12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G194G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=598;refseq.start=53071440;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr7 55181842 . C T 344.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=8.50;MQ=98.30;MQ0=0;OQ=6580.56;QD=18.28;RankSumP=0.167946;SB=-2641.84;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.474C>T;refseq.codingCoordStr_2=c.474C>T;refseq.codingCoordStr_3=c.474C>T;refseq.codingCoordStr_4=c.474C>T;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.codonCoord_3=158;refseq.codonCoord_4=158;refseq.end_1=55181842;refseq.end_2=55181842;refseq.end_3=55181842;refseq.end_4=55181842;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=720;refseq.mrnaCoord_2=720;refseq.mrnaCoord_3=720;refseq.mrnaCoord_4=720;refseq.name2_1=EGFR;refseq.name2_2=EGFR;refseq.name2_3=EGFR;refseq.name2_4=EGFR;refseq.name_1=NM_005228;refseq.name_2=NM_201282;refseq.name_3=NM_201283;refseq.name_4=NM_201284;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N158N;refseq.proteinCoordStr_2=p.N158N;refseq.proteinCoordStr_3=p.N158N;refseq.proteinCoordStr_4=p.N158N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.start_1=55181842;refseq.start_2=55181842;refseq.start_3=55181842;refseq.start_4=55181842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=Intersection GT 0/1 chr7 55205720 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.2107T>C;refseq.codonCoord_2=703;refseq.end_1=55206351;refseq.end_2=55205720;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2353;refseq.name2_1=EGFR;refseq.name2_2=EGFR;refseq.name_1=NM_005228;refseq.name_2=NM_201284;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S703P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=227;refseq.start_1=55200635;refseq.start_2=55205720;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr7 55216557 . G A 275.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=4.59;MQ=98.70;MQ0=0;OQ=4548.23;QD=19.60;RankSumP=0.180140;SB=-1568.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2361G>A;refseq.codonCoord=787;refseq.end=55216557;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2607;refseq.name=NM_005228;refseq.name2=EGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q787Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=78;refseq.start=55216557;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr7 55233911 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=625;Dels=0.00;HRun=1;HaplotypeScore=18.42;MQ=98.84;MQ0=0;OQ=19386.06;QD=31.02;RankSumP=1.00000;SB=-5690.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2709T>C;refseq.codonCoord=903;refseq.end=55233911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2955;refseq.name=NM_005228;refseq.name2=EGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T903T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=55233911;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 55236443 . A G 137.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=8.11;MQ=98.88;MQ0=0;OQ=7168.31;QD=19.32;RankSumP=0.0870968;SB=-2234.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3015A>G;refseq.codonCoord=1005;refseq.end=55236443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3261;refseq.name=NM_005228;refseq.name2=EGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1005E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=69;refseq.start=55236443;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr7 55401374 . G C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.58;MQ0=0;OQ=167.31;QD=11.95;RankSumP=0.398601;SB=-94.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.162G>C;refseq.codonCoord=54;refseq.end=55401374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_018697;refseq.name2=LANCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A54A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-43;refseq.start=55401374;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr7 55401378 . A C 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.64;MQ0=0;OQ=103.78;QD=6.49;RankSumP=0.685668;SB=-39.97;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.166A>C;refseq.codonCoord=56;refseq.end=55401378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=744;refseq.name=NM_018697;refseq.name2=LANCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T56P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-39;refseq.start=55401378;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr7 55427094 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.319A>G;refseq.codonCoord=107;refseq.end=55427094;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_018697;refseq.name2=LANCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T107A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=55427094;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr7 55447221 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=191;Dels=0.00;HRun=2;HaplotypeScore=18.38;MQ=98.34;MQ0=0;OQ=53.03;QD=0.28;RankSumP=0.00000;SB=245.79;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.953T>G;refseq.codonCoord=318;refseq.end=55447221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_018697;refseq.name2=LANCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V318G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-56;refseq.start=55447221;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 55975070 . C T 166.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.56;MQ0=0;OQ=2260.25;QD=15.07;RankSumP=0.280003;SB=-942.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1170C>T;refseq.codonCoord=390;refseq.end=55975070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1208;refseq.name=NM_182633;refseq.name2=ZNF713;refseq.positionType=CDS;refseq.proteinCoordStr=p.C390C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-858;refseq.start=55975070;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr7 56046959 . A G 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.141965;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.668T>C;refseq.codonCoord=223;refseq.end=56046959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1397;refseq.name=NM_004577;refseq.name2=PSPH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L223P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=98;refseq.start=56046959;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 0/1 chr7 56093854 . T C 303.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.39;MQ0=0;OQ=2581.65;QD=38.53;RankSumP=1.00000;SB=-1156.08;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.798T>C;refseq.codingCoordStr_2=c.933T>C;refseq.codonCoord_1=266;refseq.codonCoord_2=311;refseq.end_1=56093854;refseq.end_2=56093854;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=962;refseq.mrnaCoord_2=1097;refseq.name2_1=CCT6A;refseq.name2_2=CCT6A;refseq.name_1=NM_001009186;refseq.name_2=NM_001762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V266V;refseq.proteinCoordStr_2=p.V311V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=56093854;refseq.start_2=56093854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr7 56103688 . C T 229.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=98.94;MQ0=0;OQ=2444.72;QD=14.73;RankSumP=0.0508944;SB=-970.03;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.144C>T;refseq.codingCoordStr_3=c.144C>T;refseq.codingCoordStr_4=c.144C>T;refseq.codingCoordStr_5=c.144C>T;refseq.codonCoord_2=48;refseq.codonCoord_3=48;refseq.codonCoord_4=48;refseq.codonCoord_5=48;refseq.end_1=56108173;refseq.end_2=56103688;refseq.end_3=56103688;refseq.end_4=56103688;refseq.end_5=56103688;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=175;refseq.mrnaCoord_3=175;refseq.mrnaCoord_4=175;refseq.mrnaCoord_5=175;refseq.name2_1=SUMF2;refseq.name2_2=SUMF2;refseq.name2_3=SUMF2;refseq.name2_4=SUMF2;refseq.name2_5=SUMF2;refseq.name_1=NM_001146333;refseq.name_2=NM_001042469;refseq.name_3=NM_001042470;refseq.name_4=NM_001130069;refseq.name_5=NM_015411;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S48S;refseq.proteinCoordStr_3=p.S48S;refseq.proteinCoordStr_4=p.S48S;refseq.proteinCoordStr_5=p.S48S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.spliceDist_5=20;refseq.start_1=56099576;refseq.start_2=56103688;refseq.start_3=56103688;refseq.start_4=56103688;refseq.start_5=56103688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 0/1 chr7 56103754 . C A 328.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=98.70;MQ0=0;OQ=6144.73;QD=38.65;RankSumP=1.00000;SB=-2762.79;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.210C>A;refseq.codingCoordStr_3=c.210C>A;refseq.codingCoordStr_4=c.210C>A;refseq.codingCoordStr_5=c.210C>A;refseq.codonCoord_2=70;refseq.codonCoord_3=70;refseq.codonCoord_4=70;refseq.codonCoord_5=70;refseq.end_1=56108173;refseq.end_2=56103754;refseq.end_3=56103754;refseq.end_4=56103754;refseq.end_5=56103754;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=241;refseq.mrnaCoord_3=241;refseq.mrnaCoord_4=241;refseq.mrnaCoord_5=241;refseq.name2_1=SUMF2;refseq.name2_2=SUMF2;refseq.name2_3=SUMF2;refseq.name2_4=SUMF2;refseq.name2_5=SUMF2;refseq.name_1=NM_001146333;refseq.name_2=NM_001042469;refseq.name_3=NM_001042470;refseq.name_4=NM_001130069;refseq.name_5=NM_015411;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.D70E;refseq.proteinCoordStr_3=p.D70E;refseq.proteinCoordStr_4=p.D70E;refseq.proteinCoordStr_5=p.D70E;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.spliceDist_4=-72;refseq.spliceDist_5=-72;refseq.start_1=56099576;refseq.start_2=56103754;refseq.start_3=56103754;refseq.start_4=56103754;refseq.start_5=56103754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;set=Intersection GT 1/1 chr7 56116856 . C T 264.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=95.39;MQ0=0;OQ=1527.94;QD=18.86;RankSumP=0.384158;SB=-722.96;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.879G>A;refseq.codonCoord=293;refseq.end=56116856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_006213;refseq.name2=PHKG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V293V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-40;refseq.start=56116856;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr7 56116904 . G A 286.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.24;MQ0=0;OQ=1457.43;QD=19.18;RankSumP=0.349994;SB=-723.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.831C>T;refseq.codonCoord=277;refseq.end=56116904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1026;refseq.name=NM_006213;refseq.name2=PHKG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y277Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=39;refseq.start=56116904;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr7 56138186 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.313A>C;refseq.codonCoord=105;refseq.end=56138186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_016139;refseq.name2=CHCHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=13;refseq.start=56138186;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 57191730 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.583333;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1334C>T;refseq.codonCoord=445;refseq.end=57191730;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_033273;refseq.name2=ZNF479;refseq.positionType=CDS;refseq.proteinCoordStr=p.A445V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-463;refseq.start=57191730;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr7 57191741 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1323A>G;refseq.codonCoord=441;refseq.end=57191741;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_033273;refseq.name2=ZNF479;refseq.positionType=CDS;refseq.proteinCoordStr=p.E441E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-474;refseq.start=57191741;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr7 57192126 . G T 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.380952;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.938C>A;refseq.codonCoord=313;refseq.end=57192126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1209;refseq.name=NM_033273;refseq.name2=ZNF479;refseq.positionType=CDS;refseq.proteinCoordStr=p.T313N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=676;refseq.start=57192126;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 0/1 chr7 57192217 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.413925;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.847G>A;refseq.codonCoord=283;refseq.end=57192217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1118;refseq.name=NM_033273;refseq.name2=ZNF479;refseq.positionType=CDS;refseq.proteinCoordStr=p.A283T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=585;refseq.start=57192217;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr7 57192233 . G A 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.597330;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.831C>T;refseq.codonCoord=277;refseq.end=57192233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_033273;refseq.name2=ZNF479;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=569;refseq.start=57192233;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr7 63804237 . G T 169.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.77;MQ0=0;OQ=6267.92;QD=37.31;RankSumP=1.00000;SB=-2577.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.120G>T;refseq.codingCoordStr_2=c.120G>T;refseq.codonCoord_1=40;refseq.codonCoord_2=40;refseq.end_1=63804237;refseq.end_2=63804237;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=637;refseq.mrnaCoord_2=906;refseq.name2_1=ZNF107;refseq.name2_2=ZNF107;refseq.name_1=NM_001013746;refseq.name_2=NM_016220;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E40D;refseq.proteinCoordStr_2=p.E40D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=63804237;refseq.start_2=63804237;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr7 63929411 . G A 320.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=98.74;MQ0=0;OQ=9857.56;QD=43.05;RankSumP=1.00000;SB=-3479.19;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.*112G>A;refseq.codingCoordStr_4=c.278G>A;refseq.codonCoord_4=93;refseq.end_1=63929411;refseq.end_2=63929411;refseq.end_3=63929411;refseq.end_4=63929411;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=536;refseq.mrnaCoord_2=327;refseq.mrnaCoord_3=669;refseq.mrnaCoord_4=454;refseq.name2_1=ZNF138;refseq.name2_2=ZNF138;refseq.name2_3=ZNF138;refseq.name2_4=ZNF138;refseq.name_1=NR_027660;refseq.name_2=NR_027661;refseq.name_3=NM_001160183;refseq.name_4=NM_006524;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G93E;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=148;refseq.spliceDist_2=148;refseq.spliceDist_3=148;refseq.spliceDist_4=148;refseq.start_1=63929411;refseq.start_2=63929411;refseq.start_3=63929411;refseq.start_4=63929411;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Glu;refseq.variantCodon_4=GAA;set=Intersection GT 1/1 chr7 63929426 . T A 163.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.94;MQ0=0;OQ=7485.47;QD=39.40;RankSumP=1.00000;SB=-2184.13;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.*127T>A;refseq.codingCoordStr_4=c.293T>A;refseq.codonCoord_4=98;refseq.end_1=63929426;refseq.end_2=63929426;refseq.end_3=63929426;refseq.end_4=63929426;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=342;refseq.mrnaCoord_3=684;refseq.mrnaCoord_4=469;refseq.name2_1=ZNF138;refseq.name2_2=ZNF138;refseq.name2_3=ZNF138;refseq.name2_4=ZNF138;refseq.name_1=NR_027660;refseq.name_2=NR_027661;refseq.name_3=NM_001160183;refseq.name_4=NM_006524;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.F98Y;refseq.referenceAA_4=Phe;refseq.referenceCodon_4=TTT;refseq.spliceDist_1=163;refseq.spliceDist_2=163;refseq.spliceDist_3=163;refseq.spliceDist_4=163;refseq.start_1=63929426;refseq.start_2=63929426;refseq.start_3=63929426;refseq.start_4=63929426;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Tyr;refseq.variantCodon_4=TAT;set=Intersection GT 1/1 chr7 64026524 . A C 414.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=3395.71;QD=38.59;RankSumP=1.00000;SB=-1411.17;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1383A>C;refseq.codonCoord_2=461;refseq.end_1=64026524;refseq.end_2=64026524;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1548;refseq.mrnaCoord_2=1459;refseq.name2_1=ZNF273;refseq.name2_2=ZNF273;refseq.name_1=NR_003099;refseq.name_2=NM_021148;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E461D;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=1058;refseq.spliceDist_2=1058;refseq.start_1=64026524;refseq.start_2=64026524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr7 64076102 . G A 284.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.45;MQ0=0;OQ=10727.24;QD=42.91;RankSumP=1.00000;SB=-5152.91;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1282C>T;refseq.codonCoord=428;refseq.end=64076102;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2567;refseq.name=NM_015852;refseq.name2=ZNF117;refseq.positionType=CDS;refseq.proteinCoordStr=p.R428*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1248;refseq.start=64076102;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/1 chr7 65063329 . A G 35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=423.84;QD=35.32;RankSumP=1.00000;SB=-137.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1946T>C;refseq.codonCoord=649;refseq.end=65063329;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2077;refseq.name=NM_000181;refseq.name2=GUSB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L649P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=157;refseq.start=65063329;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr7 65066794 . G A 310.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=93.40;MQ0=10;OQ=15773.67;QD=40.24;RankSumP=1.00000;SB=-5634.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1740C>T;refseq.codonCoord=580;refseq.end=65066794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1871;refseq.name=NM_000181;refseq.name2=GUSB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y580Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-50;refseq.start=65066794;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr7 65479416 rs6974355 A G 11.45 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.45;SB=-10.00;refseq.chr=chr7;refseq.end=65479416;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=3474;refseq.name=NR_026873;refseq.name2=NCRNA00174;refseq.positionType=non_coding_exon;refseq.spliceDist=-950;refseq.start=65479416;refseq.transcriptStrand=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.40,-0.30,-0.00:1.76 chr7 65479656 . A G 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=7;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=204.77;QD=29.25;RankSumP=1.00000;SB=-40.68;SecondBestBaseQ=0;refseq.chr=chr7;refseq.end=65479656;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=3234;refseq.name=NR_026873;refseq.name2=NCRNA00174;refseq.positionType=non_coding_exon;refseq.spliceDist=-1190;refseq.start=65479656;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 1/1 chr7 65479978 . C T 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.603030;SecondBestBaseQ=11;refseq.chr=chr7;refseq.end=65479978;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=2912;refseq.name=NR_026873;refseq.name2=NCRNA00174;refseq.positionType=non_coding_exon;refseq.spliceDist=-1512;refseq.start=65479978;refseq.transcriptStrand=-;set=soap GT 0/1 chr7 65479979 . G A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=0;RankSumP=0.548485;SecondBestBaseQ=34;refseq.chr=chr7;refseq.end=65479979;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=2911;refseq.name=NR_026873;refseq.name2=NCRNA00174;refseq.positionType=non_coding_exon;refseq.spliceDist=-1513;refseq.start=65479979;refseq.transcriptStrand=-;set=soap GT 1/0 chr7 65479980 . T C 1710.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=78.96;MQ0=0;QD=27.59;RankSumP=0.133333;SB=-356.84;SecondBestBaseQ=34;refseq.chr=chr7;refseq.end=65479980;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=2910;refseq.name=NR_026873;refseq.name2=NCRNA00174;refseq.positionType=non_coding_exon;refseq.spliceDist=-1514;refseq.start=65479980;refseq.transcriptStrand=-;set=soap-filterIngatk GT 1/0 chr7 66093585 . C T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.671267;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.598G>A;refseq.codonCoord=200;refseq.end=66093585;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_016038;refseq.name2=SBDS;refseq.positionType=CDS;refseq.proteinCoordStr=p.E200K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-27;refseq.start=66093585;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr7 66116933 . T G 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.688637;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.520T>G;refseq.codonCoord=174;refseq.end=66116933;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y174D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-51;refseq.start=66116933;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr7 66127336 . T C 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.449375;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.876T>C;refseq.codonCoord=292;refseq.end=66127336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F292F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=15;refseq.start=66127336;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 1/0 chr7 66127429 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.751924;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.969T>C;refseq.codonCoord=323;refseq.end=66127429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1118;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H323H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-16;refseq.start=66127429;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr7 66169824 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.384738;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1273C>T;refseq.codonCoord=425;refseq.end=66169824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R425W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=66169824;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr7 66185886 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1309T>G;refseq.codonCoord=437;refseq.end=66185886;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1458;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W437G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=35;refseq.start=66185886;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 66220005 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.718428;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1663A>C;refseq.codonCoord=555;refseq.end=66220005;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R555R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-36;refseq.start=66220005;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap GT 0/1 chr7 66220006 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.352674;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1664G>A;refseq.codonCoord=555;refseq.end=66220006;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1813;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R555K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-35;refseq.start=66220006;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr7 66285592 . C T 177.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=29.51;MQ0=50;OQ=2524.55;QD=16.39;RankSumP=1.00000;SB=-1238.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1743C>T;refseq.codonCoord=581;refseq.end=66285592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1892;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N581N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=45;refseq.start=66285592;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 66285634 . G A 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=19.13;MQ0=75;OQ=957.90;QD=8.26;RankSumP=1.00000;SB=-246.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1785G>A;refseq.codonCoord=595;refseq.end=66285634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1934;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G595G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-25;refseq.start=66285634;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr7 66297677 . A G 106.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=48.64;MQ0=100;OQ=2439.16;QD=14.10;RankSumP=1.00000;SB=-231.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1895A>G;refseq.codonCoord=632;refseq.end=66297677;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2044;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H632R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-83;refseq.start=66297677;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr7 66297682 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=45.73;MQ0=113;OQ=1797.54;QD=11.31;RankSumP=1.00000;SB=-292.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1900T>C;refseq.codonCoord=634;refseq.end=66297682;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2049;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L634L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-78;refseq.start=66297682;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr7 66340763 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=416;Dels=0.00;HRun=1;HaplotypeScore=10.47;MQ=19.65;MQ0=397;OQ=763.80;QD=1.84;RankSumP=0.425471;SB=-53.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2011G>A;refseq.codonCoord=671;refseq.end=66340763;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2160;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D671N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=34;refseq.start=66340763;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr7 66340878 . G A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.415787;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2126G>A;refseq.codonCoord=709;refseq.end=66340878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2275;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S709N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=149;refseq.start=66340878;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr7 66340886 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.506525;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2134G>A;refseq.codonCoord=712;refseq.end=66340886;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2283;refseq.name=NM_018264;refseq.name2=TYW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G712S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=157;refseq.start=66340886;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 1/0 chr7 66412039 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=612;Dels=0.00;HRun=1;HaplotypeScore=8.18;MQ=61.02;MQ0=44;OQ=26885.33;QD=43.93;RankSumP=1.00000;SB=-11753.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.346G>C;refseq.codonCoord=116;refseq.end=66412039;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_022906;refseq.name2=STAG3L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E116Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=54;refseq.start=66412039;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr7 70768504 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1253A>C;refseq.codonCoord=418;refseq.end=70768504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_022479;refseq.name2=WBSCR17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N418T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-14;refseq.start=70768504;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 72051359 . C T 6 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=107;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=26.11;MQ0=93;OQ=164.87;QD=1.54;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2096C>T;refseq.codonCoord=699;refseq.end=72051359;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3073;refseq.name=NM_172020;refseq.name2=POM121;refseq.positionType=CDS;refseq.proteinCoordStr=p.P699L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-639;refseq.start=72051359;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr7 72051379 . G A 18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=36.63;MQ0=39;OQ=178.95;QD=2.93;RankSumP=0.750000;SB=-37.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2116G>A;refseq.codonCoord=706;refseq.end=72051379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3093;refseq.name=NM_172020;refseq.name2=POM121;refseq.positionType=CDS;refseq.proteinCoordStr=p.A706T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-619;refseq.start=72051379;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr7 72056899 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=2.74;MQ=42.33;MQ0=37;OQ=111.86;QD=0.89;RankSumP=0.611370;SB=27.31;SecondBestBaseQ=32;refseq.chr=chr7;refseq.end=72056899;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1636;refseq.name=NR_033323;refseq.name2=NSUN5P2;refseq.positionType=non_coding_exon;refseq.spliceDist=-131;refseq.start=72056899;refseq.transcriptStrand=-;set=soap-filterIngatk GT 1/0 chr7 72057400 . T G 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.440072;SecondBestBaseQ=33;refseq.chr=chr7;refseq.end=72057400;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1288;refseq.name=NR_033323;refseq.name2=NSUN5P2;refseq.positionType=non_coding_exon;refseq.spliceDist=-34;refseq.start=72057400;refseq.transcriptStrand=-;set=soap GT 1/0 chr7 72057852 rs56210322 G C 0.91 PASS AC=1;AF=0.50;AN=2;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=15.06;MQ=14.04;MQ0=205;OQ=528.55;QD=2.08;SB=-206.34;refseq.chr=chr7;refseq.end=72057852;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1046;refseq.name=NR_033323;refseq.name2=NSUN5P2;refseq.positionType=non_coding_exon;refseq.spliceDist=-65;refseq.start=72057852;refseq.transcriptStrand=-;set=gatk GT:AD:DP:GL:GQ 0/1:150,103:29:-64.88,-8.74,-66.38:99 chr7 72057901 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.chr=chr7;refseq.end=72057901;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=997;refseq.name=NR_033323;refseq.name2=NSUN5P2;refseq.positionType=non_coding_exon;refseq.spliceDist=66;refseq.start=72057901;refseq.transcriptStrand=-;set=soap GT 1/0 chr7 72057937 . C T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.266667;SecondBestBaseQ=34;refseq.chr=chr7;refseq.end=72057937;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=961;refseq.name=NR_033323;refseq.name2=NSUN5P2;refseq.positionType=non_coding_exon;refseq.spliceDist=30;refseq.start=72057937;refseq.transcriptStrand=-;set=soap GT 0/1 chr7 72069825 . G A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.652486;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.487C>T;refseq.codonCoord=163;refseq.end=72069825;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_198853;refseq.name2=TRIM74;refseq.positionType=CDS;refseq.proteinCoordStr=p.R163*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=72069825;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr7 72107960 . T C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.333333;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.317A>G;refseq.codonCoord=106;refseq.end=72107960;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_001013739;refseq.name2=STAG3L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E106G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-31;refseq.start=72107960;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 72355869 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=53.59;MQ0=56;OQ=1470.87;QD=9.81;RankSumP=0.748226;SB=-386.54;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1035G>A;refseq.codingCoordStr_2=c.921G>A;refseq.codingCoordStr_3=c.1035G>A;refseq.codingCoordStr_4=c.1035G>A;refseq.codonCoord_1=345;refseq.codonCoord_2=307;refseq.codonCoord_3=345;refseq.codonCoord_4=345;refseq.end_1=72355869;refseq.end_2=72355869;refseq.end_3=72355869;refseq.end_4=72355869;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1112;refseq.mrnaCoord_2=998;refseq.mrnaCoord_3=1112;refseq.mrnaCoord_4=1112;refseq.name2_1=NSUN5;refseq.name2_2=NSUN5;refseq.name2_3=NSUN5;refseq.name2_4=NSUN5;refseq.name_1=NM_001168347;refseq.name_2=NM_001168348;refseq.name_3=NM_018044;refseq.name_4=NM_148956;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A345A;refseq.proteinCoordStr_2=p.A307A;refseq.proteinCoordStr_3=p.A345A;refseq.proteinCoordStr_4=p.A345A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.spliceDist_3=101;refseq.spliceDist_4=101;refseq.start_1=72355869;refseq.start_2=72355869;refseq.start_3=72355869;refseq.start_4=72355869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 0/1 chr7 72376685 . A G 100.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=10.65;MQ=74.29;MQ0=48;OQ=2440.30;QD=16.38;RankSumP=1.00000;SB=-1107.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.37T>C;refseq.codonCoord=13;refseq.end=72376685;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_178125;refseq.name2=TRIM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.W13R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=55;refseq.start=72376685;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr7 72376698 . C T 42.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=20.53;MQ=67.43;MQ0=65;OQ=2358.52;QD=14.47;RankSumP=1.00000;SB=-939.98;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=72376698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_178125;refseq.name2=TRIM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=42;refseq.start=72376698;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=filterInsoap-gatk GT 1/1 chr7 72376699 . A G 24.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=19.69;MQ=66.94;MQ0=65;OQ=2398.79;QD=14.63;RankSumP=1.00000;SB=-954.05;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.23T>C;refseq.codonCoord=8;refseq.end=72376699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_178125;refseq.name2=TRIM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=41;refseq.start=72376699;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr7 72392581 . G A 137.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.69;MQ0=0;OQ=3885.71;QD=20.67;RankSumP=0.357619;SB=-692.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.579G>A;refseq.codingCoordStr_2=c.594G>A;refseq.codonCoord_1=193;refseq.codonCoord_2=198;refseq.end_1=72392581;refseq.end_2=72392581;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=700;refseq.mrnaCoord_2=726;refseq.name2_1=FKBP6;refseq.name2_2=FKBP6;refseq.name_1=NM_001135211;refseq.name_2=NM_003602;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L193L;refseq.proteinCoordStr_2=p.L198L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=72392581;refseq.start_2=72392581;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr7 72486435 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=11.23;MQ=91.77;MQ0=0;OQ=162.73;QD=4.65;RankSumP=0.682844;SB=-72.87;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.162G>C;refseq.codonCoord=54;refseq.end=72486435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=391;refseq.name=NM_003508;refseq.name2=FZD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L54L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=391;refseq.start=72486435;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr7 72630794 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.07;MQ0=0;OQ=817.50;QD=13.63;RankSumP=0.543346;SB=-326.53;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.22G>C;refseq.codonCoord=8;refseq.end=72630794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_012453;refseq.name2=TBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E8Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-109;refseq.start=72630794;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr7 72648690 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=11.75;MQ=97.22;MQ0=0;OQ=1279.83;QD=13.91;RankSumP=0.328187;SB=-577.38;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1878G>A;refseq.codingCoordStr_2=c.1878G>A;refseq.codingCoordStr_3=c.1878G>A;refseq.codingCoordStr_4=c.1878G>A;refseq.codonCoord_1=626;refseq.codonCoord_2=626;refseq.codonCoord_3=626;refseq.codonCoord_4=626;refseq.end_1=72648690;refseq.end_2=72648690;refseq.end_3=72648690;refseq.end_4=72648690;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1926;refseq.mrnaCoord_2=1926;refseq.mrnaCoord_3=1926;refseq.mrnaCoord_4=1926;refseq.name2_1=MLXIPL;refseq.name2_2=MLXIPL;refseq.name2_3=MLXIPL;refseq.name2_4=MLXIPL;refseq.name_1=NM_032951;refseq.name_2=NM_032952;refseq.name_3=NM_032953;refseq.name_4=NM_032954;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L626L;refseq.proteinCoordStr_2=p.L626L;refseq.proteinCoordStr_3=p.L626L;refseq.proteinCoordStr_4=p.L626L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.spliceDist_4=56;refseq.start_1=72648690;refseq.start_2=72648690;refseq.start_3=72648690;refseq.start_4=72648690;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=Intersection GT 0/1 chr7 72658237 . T C 105.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=832.42;QD=33.30;RankSumP=1.00000;SB=-394.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.759A>G;refseq.codingCoordStr_2=c.759A>G;refseq.codingCoordStr_3=c.759A>G;refseq.codingCoordStr_4=c.759A>G;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.codonCoord_3=253;refseq.codonCoord_4=253;refseq.end_1=72658237;refseq.end_2=72658237;refseq.end_3=72658237;refseq.end_4=72658237;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=807;refseq.mrnaCoord_3=807;refseq.mrnaCoord_4=807;refseq.name2_1=MLXIPL;refseq.name2_2=MLXIPL;refseq.name2_3=MLXIPL;refseq.name2_4=MLXIPL;refseq.name_1=NM_032951;refseq.name_2=NM_032952;refseq.name_3=NM_032953;refseq.name_4=NM_032954;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S253S;refseq.proteinCoordStr_2=p.S253S;refseq.proteinCoordStr_3=p.S253S;refseq.proteinCoordStr_4=p.S253S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.spliceDist_4=-62;refseq.start_1=72658237;refseq.start_2=72658237;refseq.start_3=72658237;refseq.start_4=72658237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=Intersection GT 1/1 chr7 72722317 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=72722317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_001077621;refseq.name2=VPS37D;refseq.positionType=CDS;refseq.proteinCoordStr=p.C114C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=32;refseq.start=72722317;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/1 chr7 72735590 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.60;MQ0=0;OQ=1438.75;QD=19.18;RankSumP=0.124795;SB=-248.70;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.100G>A;refseq.codonCoord=34;refseq.end=72735590;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=128;refseq.name=NM_032317;refseq.name2=DNAJC30;refseq.positionType=CDS;refseq.proteinCoordStr=p.G34R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=128;refseq.start=72735590;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr7 72760859 . A G 156.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=98.79;MQ0=0;OQ=2592.75;QD=32.01;RankSumP=1.00000;SB=-643.93;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.204T>C;refseq.codingCoordStr_2=c.204T>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=72760859;refseq.end_2=72760859;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=260;refseq.mrnaCoord_2=260;refseq.name2_1=STX1A;refseq.name2_2=STX1A;refseq.name_1=NM_001165903;refseq.name_2=NM_004603;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D68D;refseq.proteinCoordStr_2=p.D68D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=72760859;refseq.start_2=72760859;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr7 72789580 . A G 186.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=18.63;MQ=98.74;MQ0=0;OQ=6010.04;QD=16.38;RankSumP=0.318980;SB=-1785.01;SecondBestBaseQ=27;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_4=c.540T>C;refseq.codingCoordStr_5=c.519T>C;refseq.codonCoord_4=180;refseq.codonCoord_5=173;refseq.end_1=72789817;refseq.end_2=72789580;refseq.end_3=72789580;refseq.end_4=72789580;refseq.end_5=72789580;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=592;refseq.mrnaCoord_3=768;refseq.mrnaCoord_4=597;refseq.mrnaCoord_5=576;refseq.name2_1=ABHD11;refseq.name2_2=ABHD11;refseq.name2_3=ABHD11;refseq.name2_4=ABHD11;refseq.name2_5=ABHD11;refseq.name_1=NM_001145364;refseq.name_2=NR_026910;refseq.name_3=NR_026912;refseq.name_4=NM_148912;refseq.name_5=NM_148913;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.Y180Y;refseq.proteinCoordStr_5=p.Y173Y;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.spliceDist_2=78;refseq.spliceDist_3=-94;refseq.spliceDist_4=78;refseq.spliceDist_5=78;refseq.start_1=72789387;refseq.start_2=72789580;refseq.start_3=72789580;refseq.start_4=72789580;refseq.start_5=72789580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;set=Intersection GT 0/1 chr7 72887101 . T A 200.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.73;MQ0=0;OQ=3226.07;QD=15.74;RankSumP=0.167341;SB=-1212.52;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.646A>T;refseq.codonCoord=216;refseq.end=72887101;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=686;refseq.name=NM_152559;refseq.name2=WBSCR27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R216W;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=168;refseq.start=72887101;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr7 72887235 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=97.08;MQ0=0;OQ=303.35;QD=14.45;RankSumP=0.669608;SB=-0.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.512C>G;refseq.codonCoord=171;refseq.end=72887235;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_152559;refseq.name2=WBSCR27;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=34;refseq.start=72887235;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr7 72892748 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=96.21;MQ0=0;OQ=277.00;QD=9.23;RankSumP=0.425884;SB=-30.90;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.320A>G;refseq.codonCoord=107;refseq.end=72892748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_152559;refseq.name2=WBSCR27;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q107R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=68;refseq.start=72892748;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr7 72913501 . T A 107.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.69;MQ0=0;OQ=1207.71;QD=14.21;RankSumP=0.100705;SB=-576.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.41T>A;refseq.codonCoord=14;refseq.end=72913501;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_182504;refseq.name2=WBSCR28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I14N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-32;refseq.start=72913501;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr7 72917297 . C T 164.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=5.63;MQ=98.31;MQ0=0;OQ=5135.66;QD=16.67;RankSumP=0.0657425;SB=-1773.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.111C>T;refseq.codonCoord=37;refseq.end=72917297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=147;refseq.name=NM_182504;refseq.name2=WBSCR28;refseq.positionType=CDS;refseq.proteinCoordStr=p.L37L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=39;refseq.start=72917297;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr7 72917418 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.01;MQ0=0;OQ=755.49;QD=16.79;RankSumP=0.310925;SB=-296.35;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.232T>C;refseq.codonCoord=78;refseq.end=72917418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_182504;refseq.name2=WBSCR28;refseq.positionType=CDS;refseq.proteinCoordStr=p.W78R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=160;refseq.start=72917418;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr7 72917956 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.70;MQ0=0;OQ=1470.87;QD=10.66;RankSumP=0.420485;SB=-745.09;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.615C>T;refseq.codonCoord=205;refseq.end=72917956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_182504;refseq.name2=WBSCR28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T205T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=114;refseq.start=72917956;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr7 73100433 . T G 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=5.63294e-09;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.711T>G;refseq.codingCoordStr_2=c.681T>G;refseq.codingCoordStr_3=c.726T>G;refseq.codingCoordStr_4=c.726T>G;refseq.codingCoordStr_5=c.711T>G;refseq.codonCoord_1=237;refseq.codonCoord_2=227;refseq.codonCoord_3=242;refseq.codonCoord_4=242;refseq.codonCoord_5=237;refseq.end_1=73100433;refseq.end_2=73100433;refseq.end_3=73100433;refseq.end_4=73100433;refseq.end_5=73100433;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=772;refseq.mrnaCoord_3=817;refseq.mrnaCoord_4=817;refseq.mrnaCoord_5=802;refseq.name2_1=ELN;refseq.name2_2=ELN;refseq.name2_3=ELN;refseq.name2_4=ELN;refseq.name2_5=ELN;refseq.name_1=NM_000501;refseq.name_2=NM_001081752;refseq.name_3=NM_001081753;refseq.name_4=NM_001081754;refseq.name_5=NM_001081755;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G237G;refseq.proteinCoordStr_2=p.G227G;refseq.proteinCoordStr_3=p.G242G;refseq.proteinCoordStr_4=p.G242G;refseq.proteinCoordStr_5=p.G237G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.start_1=73100433;refseq.start_2=73100433;refseq.start_3=73100433;refseq.start_4=73100433;refseq.start_5=73100433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr7 73108650 . G A 274.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.73;MQ0=0;OQ=2449.62;QD=18.70;RankSumP=0.450641;SB=-631.68;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.1264G>A;refseq.codingCoordStr_2=c.1234G>A;refseq.codingCoordStr_3=c.1279G>A;refseq.codingCoordStr_4=c.1279G>A;refseq.codingCoordStr_5=c.1264G>A;refseq.codonCoord_1=422;refseq.codonCoord_2=412;refseq.codonCoord_3=427;refseq.codonCoord_4=427;refseq.codonCoord_5=422;refseq.end_1=73108650;refseq.end_2=73108650;refseq.end_3=73108650;refseq.end_4=73108650;refseq.end_5=73108650;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1355;refseq.mrnaCoord_2=1325;refseq.mrnaCoord_3=1370;refseq.mrnaCoord_4=1370;refseq.mrnaCoord_5=1355;refseq.name2_1=ELN;refseq.name2_2=ELN;refseq.name2_3=ELN;refseq.name2_4=ELN;refseq.name2_5=ELN;refseq.name_1=NM_000501;refseq.name_2=NM_001081752;refseq.name_3=NM_001081753;refseq.name_4=NM_001081754;refseq.name_5=NM_001081755;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G422S;refseq.proteinCoordStr_2=p.G412S;refseq.proteinCoordStr_3=p.G427S;refseq.proteinCoordStr_4=p.G427S;refseq.proteinCoordStr_5=p.G422S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.start_1=73108650;refseq.start_2=73108650;refseq.start_3=73108650;refseq.start_4=73108650;refseq.start_5=73108650;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 1/0 chr7 73173464 . A C 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.0366392;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1841A>C;refseq.codonCoord=614;refseq.end=73173464;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2006;refseq.name=NM_002314;refseq.name2=LIMK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H614P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=60;refseq.start=73173464;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr7 73391186 . T C 207.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=98.56;MQ0=0;OQ=3463.85;QD=33.96;RankSumP=1.00000;SB=-1583.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.594T>C;refseq.codingCoordStr_2=c.594T>C;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.end_1=73391186;refseq.end_2=73391186;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=921;refseq.mrnaCoord_2=921;refseq.name2_1=CLIP2;refseq.name2_2=CLIP2;refseq.name_1=NM_003388;refseq.name_2=NM_032421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T198T;refseq.proteinCoordStr_2=p.T198T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.start_1=73391186;refseq.start_2=73391186;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr7 73409685 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.94861e-06;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1157C>A;refseq.codingCoordStr_2=c.1157C>A;refseq.codonCoord_1=386;refseq.codonCoord_2=386;refseq.end_1=73409685;refseq.end_2=73409685;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1484;refseq.name2_1=CLIP2;refseq.name2_2=CLIP2;refseq.name_1=NM_003388;refseq.name_2=NM_032421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T386K;refseq.proteinCoordStr_2=p.T386K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=73409685;refseq.start_2=73409685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr7 73452685 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=152;Dels=0.00;HRun=2;HaplotypeScore=9.76;MQ=98.61;MQ0=0;OQ=5609.00;QD=36.90;RankSumP=1.00000;SB=-2215.01;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2930G>C;refseq.codingCoordStr_2=c.2825G>C;refseq.codonCoord_1=977;refseq.codonCoord_2=942;refseq.end_1=73452685;refseq.end_2=73452685;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3257;refseq.mrnaCoord_2=3152;refseq.name2_1=CLIP2;refseq.name2_2=CLIP2;refseq.name_1=NM_003388;refseq.name_2=NM_032421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R977P;refseq.proteinCoordStr_2=p.R942P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=73452685;refseq.start_2=73452685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr7 73831604 . G A 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=13.63;MQ0=170;OQ=1596.99;QD=6.71;RankSumP=1.00000;SB=-624.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.295G>A;refseq.codonCoord=99;refseq.end=73831604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_000265;refseq.name2=NCF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G99S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=66;refseq.start=73831604;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/1 chr7 73850247 rs2529318 G T 0.06 PASS AC=2;AF=1.00;AN=2;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=10.96;MQ0=122;OQ=485.80;QD=3.28;SB=-35.37;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1540C>A;refseq.codonCoord=514;refseq.end=73850247;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1724;refseq.name=NM_173537;refseq.name2=GTF2IRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H514N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=294;refseq.start=73850247;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=gatk GT:AD:DP:GL:GQ 1/1:0,148:14:-52.17,-4.22,-0.01:42.12 chr7 74174744 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.386942;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.355T>C;refseq.codonCoord=119;refseq.end=74174744;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=570;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y119H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=74174744;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr7 74196333 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.711376;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1142C>A;refseq.codonCoord=381;refseq.end=74196333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1357;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A381D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-76;refseq.start=74196333;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr7 74201444 . C T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.439591;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1255C>T;refseq.codonCoord=419;refseq.end=74201444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1470;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R419C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=74201444;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 0/1 chr7 74201494 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.500000;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1305G>A;refseq.codonCoord=435;refseq.end=74201494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1520;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A435A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=59;refseq.start=74201494;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr7 74201496 . A T 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.0569110;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1307A>T;refseq.codonCoord=436;refseq.end=74201496;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y436F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=61;refseq.start=74201496;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 0/1 chr7 74201688 rs2529320 C T 0.72 PASS AC=2;AF=1.00;AN=2;DB;DP=497;Dels=0.00;HRun=1;HaplotypeScore=13.18;MQ=2.93;MQ0=490;OQ=158.18;QD=0.32;SB=-10.00;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1499C>T;refseq.codonCoord=500;refseq.end=74201688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1714;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S500L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=253;refseq.start=74201688;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=gatk GT:AD:DP:GL:GQ 1/1:418,78:5:-19.38,-1.51,-0.00:15.05 chr7 74203037 . T C 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.195671;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2848T>C;refseq.codonCoord=950;refseq.end=74203037;refseq.frame=0;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3063;refseq.name=NM_001003795;refseq.name2=GTF2IRD2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.*950R;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=-523;refseq.start=74203037;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap GT 1/0 chr7 74829256 . C A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.656958;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.-33C>A;refseq.codingCoordStr_2=c.6C>A;refseq.codonCoord_2=2;refseq.end_1=74829256;refseq.end_2=74829256;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=397;refseq.name2_1=STAG3L1;refseq.name2_2=STAG3L1;refseq.name_1=NM_001002840;refseq.name_2=NM_018991;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I2I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=74829256;refseq.start_2=74829256;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=soap GT 1/0 chr7 74832790 . G A 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.655146;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.127G>A;refseq.codingCoordStr_2=c.289G>A;refseq.codonCoord_1=43;refseq.codonCoord_2=97;refseq.end_1=74832790;refseq.end_2=74832790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=556;refseq.mrnaCoord_2=680;refseq.name2_1=STAG3L1;refseq.name2_2=STAG3L1;refseq.name_1=NM_001002840;refseq.name_2=NM_018991;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V43M;refseq.proteinCoordStr_2=p.V97M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=74832790;refseq.start_2=74832790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap GT 1/0 chr7 74833592 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.116340;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.249T>C;refseq.codingCoordStr_2=c.411T>C;refseq.codonCoord_1=83;refseq.codonCoord_2=137;refseq.end_1=74833592;refseq.end_2=74833592;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=678;refseq.mrnaCoord_2=802;refseq.name2_1=STAG3L1;refseq.name2_2=STAG3L1;refseq.name_1=NM_001002840;refseq.name_2=NM_018991;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G83G;refseq.proteinCoordStr_2=p.G137G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=74833592;refseq.start_2=74833592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr7 74866176 . T C 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DP=518;Dels=0.00;HRun=1;HaplotypeScore=72.91;MQ=25.10;MQ0=133;OQ=1187.34;QD=2.29;RankSumP=1.00000;SB=-68.62;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.23T>C;refseq.codonCoord=8;refseq.end=74866176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=41;refseq.start=74866176;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/1 chr7 74866177 . G A 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DP=518;Dels=0.00;HRun=0;HaplotypeScore=72.12;MQ=25.15;MQ0=131;OQ=1194.34;QD=2.31;RankSumP=1.00000;SB=-36.84;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=74866177;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=42;refseq.start=74866177;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap-filterIngatk GT 1/1 chr7 74870882 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.122546;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.418T>A;refseq.codonCoord=140;refseq.end=74870882;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.F140I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=19;refseq.start=74870882;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr7 74870908 . G A 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.334010;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.444G>A;refseq.codonCoord=148;refseq.end=74870908;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.K148K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=45;refseq.start=74870908;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr7 74870941 . A C 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0695255;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.477A>C;refseq.codonCoord=159;refseq.end=74870941;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.K159N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-19;refseq.start=74870941;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr7 74870951 . C T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.209621;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.487C>T;refseq.codonCoord=163;refseq.end=74870951;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_198924;refseq.name2=TRIM73;refseq.positionType=CDS;refseq.proteinCoordStr=p.R163*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=74870951;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 0/1 chr7 74883630 . C T 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=12.83;MQ=12.70;MQ0=305;OQ=248.01;QD=0.74;RankSumP=0.467511;SB=-29.62;SecondBestBaseQ=33;refseq.chr=chr7;refseq.end=74883630;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1190;refseq.name=NR_033322;refseq.name2=NSUN5P1;refseq.positionType=non_coding_exon;refseq.spliceDist=141;refseq.start=74883630;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr7 74981991 . A T 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.638889;SecondBestBaseQ=33;refseq.chr=chr7;refseq.end=74981991;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=911;refseq.name=NR_028059;refseq.name2=PMS2L3;refseq.positionType=non_coding_exon;refseq.spliceDist=55;refseq.start=74981991;refseq.transcriptStrand=-;set=soap GT 0/1 chr7 74983375 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.528550;SecondBestBaseQ=17;refseq.chr=chr7;refseq.end=74983375;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=726;refseq.name=NR_028059;refseq.name2=PMS2L3;refseq.positionType=non_coding_exon;refseq.spliceDist=-20;refseq.start=74983375;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr7 74983430 . C T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.0539703;SecondBestBaseQ=18;refseq.chr=chr7;refseq.end=74983430;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=671;refseq.name=NR_028059;refseq.name2=PMS2L3;refseq.positionType=non_coding_exon;refseq.spliceDist=53;refseq.start=74983430;refseq.transcriptStrand=-;set=soap GT 0/1 chr7 74983431 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=52.84;MQ=12.52;MQ0=288;OQ=517.19;QD=1.30;RankSumP=0.504013;SB=-280.70;SecondBestBaseQ=19;refseq.chr=chr7;refseq.end=74983431;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=670;refseq.name=NR_028059;refseq.name2=PMS2L3;refseq.positionType=non_coding_exon;refseq.spliceDist=52;refseq.start=74983431;refseq.transcriptStrand=-;set=soap-filterIngatk GT 1/0 chr7 75349095 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.191T>G;refseq.codingCoordStr_2=c.-233T>G;refseq.codonCoord_1=64;refseq.end_1=75349095;refseq.end_2=75349095;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=275;refseq.mrnaCoord_2=397;refseq.name2_1=RHBDD2;refseq.name2_2=RHBDD2;refseq.name_1=NM_001040456;refseq.name_2=NM_001040457;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.V64G;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=75349095;refseq.start_2=75349095;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGA;set=FilteredInAll GT 1/0 chr7 75350998 . A G 301.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=98.80;MQ0=0;OQ=10319.80;QD=38.94;RankSumP=1.00000;SB=-4398.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.633A>G;refseq.codingCoordStr_2=c.210A>G;refseq.codonCoord_1=211;refseq.codonCoord_2=70;refseq.end_1=75350998;refseq.end_2=75350998;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=717;refseq.mrnaCoord_2=839;refseq.name2_1=RHBDD2;refseq.name2_2=RHBDD2;refseq.name_1=NM_001040456;refseq.name_2=NM_001040457;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A211A;refseq.proteinCoordStr_2=p.A70A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=75350998;refseq.start_2=75350998;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr7 75468210 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=541;Dels=0.00;HRun=2;HaplotypeScore=13.55;MQ=98.85;MQ0=0;OQ=20725.38;QD=38.31;RankSumP=1.00000;SB=-7370.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.744A>G;refseq.codonCoord=248;refseq.end=75468210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1087;refseq.name=NM_016086;refseq.name2=STYXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q248Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=47;refseq.start=75468210;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr7 75497751 . T C 199.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.97;MQ0=0;OQ=3143.91;QD=13.49;RankSumP=0.498857;SB=-1250.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.27A>G;refseq.codonCoord=9;refseq.end=75497751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_016086;refseq.name2=STYXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=28;refseq.start=75497751;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr7 75522128 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=2.70844e-07;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.111G>C;refseq.codonCoord=37;refseq.end=75522128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_005918;refseq.name2=MDH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G37G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=45;refseq.start=75522128;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr7 75797124 . G A 100.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=576;Dels=0.00;HRun=0;HaplotypeScore=15.79;MQ=98.93;MQ0=0;OQ=11029.49;QD=19.15;RankSumP=0.116973;SB=-4161.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.450C>T;refseq.codonCoord=150;refseq.end=75797124;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_012479;refseq.name2=YWHAG;refseq.positionType=CDS;refseq.proteinCoordStr=p.S150S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=363;refseq.start=75797124;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr7 75969581 . A G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=76.64;MQ0=22;OQ=3653.61;QD=30.70;RankSumP=1.00000;SB=-1808.97;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1261A>G;refseq.codingCoordStr_2=c.1261A>G;refseq.codingCoordStr_3=c.1120A>G;refseq.codingCoordStr_4=c.1261A>G;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.codonCoord_3=374;refseq.codonCoord_4=421;refseq.end_1=75969581;refseq.end_2=75969581;refseq.end_3=75969581;refseq.end_4=75969581;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1697;refseq.mrnaCoord_2=1532;refseq.mrnaCoord_3=1120;refseq.mrnaCoord_4=1817;refseq.name2_1=DTX2;refseq.name2_2=DTX2;refseq.name2_3=DTX2;refseq.name2_4=DTX2;refseq.name_1=NM_001102594;refseq.name_2=NM_001102595;refseq.name_3=NM_001102596;refseq.name_4=NM_020892;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T421A;refseq.proteinCoordStr_2=p.T421A;refseq.proteinCoordStr_3=p.T374A;refseq.proteinCoordStr_4=p.T421A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=75969581;refseq.start_2=75969581;refseq.start_3=75969581;refseq.start_4=75969581;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/1 chr7 75969586 . G A 208.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=78.22;MQ0=20;OQ=4332.33;QD=33.33;RankSumP=1.00000;SB=-1792.00;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1266G>A;refseq.codingCoordStr_2=c.1266G>A;refseq.codingCoordStr_3=c.1125G>A;refseq.codingCoordStr_4=c.1266G>A;refseq.codonCoord_1=422;refseq.codonCoord_2=422;refseq.codonCoord_3=375;refseq.codonCoord_4=422;refseq.end_1=75969586;refseq.end_2=75969586;refseq.end_3=75969586;refseq.end_4=75969586;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1702;refseq.mrnaCoord_2=1537;refseq.mrnaCoord_3=1125;refseq.mrnaCoord_4=1822;refseq.name2_1=DTX2;refseq.name2_2=DTX2;refseq.name2_3=DTX2;refseq.name2_4=DTX2;refseq.name_1=NM_001102594;refseq.name_2=NM_001102595;refseq.name_3=NM_001102596;refseq.name_4=NM_020892;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A422A;refseq.proteinCoordStr_2=p.A422A;refseq.proteinCoordStr_3=p.A375A;refseq.proteinCoordStr_4=p.A422A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.start_1=75969586;refseq.start_2=75969586;refseq.start_3=75969586;refseq.start_4=75969586;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/1 chr7 75969631 . A G 101.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=82.28;MQ0=6;OQ=5274.58;QD=33.38;RankSumP=1.00000;SB=-2338.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1311A>G;refseq.codingCoordStr_2=c.1311A>G;refseq.codingCoordStr_3=c.1170A>G;refseq.codingCoordStr_4=c.1311A>G;refseq.codonCoord_1=437;refseq.codonCoord_2=437;refseq.codonCoord_3=390;refseq.codonCoord_4=437;refseq.end_1=75969631;refseq.end_2=75969631;refseq.end_3=75969631;refseq.end_4=75969631;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1747;refseq.mrnaCoord_2=1582;refseq.mrnaCoord_3=1170;refseq.mrnaCoord_4=1867;refseq.name2_1=DTX2;refseq.name2_2=DTX2;refseq.name2_3=DTX2;refseq.name2_4=DTX2;refseq.name_1=NM_001102594;refseq.name_2=NM_001102595;refseq.name_3=NM_001102596;refseq.name_4=NM_020892;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L437L;refseq.proteinCoordStr_2=p.L437L;refseq.proteinCoordStr_3=p.L390L;refseq.proteinCoordStr_4=p.L437L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.spliceDist_3=-79;refseq.spliceDist_4=-79;refseq.start_1=75969631;refseq.start_2=75969631;refseq.start_3=75969631;refseq.start_4=75969631;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr7 75970834 . T C 265.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=40.42;MQ0=83;OQ=2922.72;QD=16.70;RankSumP=1.00000;SB=-998.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1545T>C;refseq.codingCoordStr_2=c.1545T>C;refseq.codingCoordStr_3=c.1404T>C;refseq.codingCoordStr_4=c.1545T>C;refseq.codonCoord_1=515;refseq.codonCoord_2=515;refseq.codonCoord_3=468;refseq.codonCoord_4=515;refseq.end_1=75970834;refseq.end_2=75970834;refseq.end_3=75970834;refseq.end_4=75970834;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1981;refseq.mrnaCoord_2=1816;refseq.mrnaCoord_3=1404;refseq.mrnaCoord_4=2101;refseq.name2_1=DTX2;refseq.name2_2=DTX2;refseq.name2_3=DTX2;refseq.name2_4=DTX2;refseq.name_1=NM_001102594;refseq.name_2=NM_001102595;refseq.name_3=NM_001102596;refseq.name_4=NM_020892;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G515G;refseq.proteinCoordStr_2=p.G515G;refseq.proteinCoordStr_3=p.G468G;refseq.proteinCoordStr_4=p.G515G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceDist_4=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.spliceInfo_4=splice-donor_-7;refseq.start_1=75970834;refseq.start_2=75970834;refseq.start_3=75970834;refseq.start_4=75970834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=Intersection GT 1/1 chr7 75982391 . A C 229.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=93.40;MQ0=0;OQ=591.99;QD=20.41;RankSumP=1.00000;SB=-168.01;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.850A>C;refseq.codingCoordStr_2=c.765A>C;refseq.codonCoord_1=284;refseq.codonCoord_2=255;refseq.end_1=75982391;refseq.end_2=75982391;refseq.frame_1=0;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1075;refseq.mrnaCoord_2=990;refseq.name2_1=UPK3B;refseq.name2_2=UPK3B;refseq.name_1=NM_030570;refseq.name_2=NM_182684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R284R;refseq.proteinCoordStr_2=p.R255S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.start_1=75982391;refseq.start_2=75982391;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Ser;refseq.variantCodon_1=CGA;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr7 75982419 . A G 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=94.60;MQ0=0;OQ=694.70;QD=30.20;RankSumP=1.00000;SB=-251.69;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.878A>G;refseq.codingCoordStr_2=c.793A>G;refseq.codonCoord_1=293;refseq.codonCoord_2=265;refseq.end_1=75982419;refseq.end_2=75982419;refseq.frame_1=1;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1103;refseq.mrnaCoord_2=1018;refseq.name2_1=UPK3B;refseq.name2_2=UPK3B;refseq.name_1=NM_030570;refseq.name_2=NM_182684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q293R;refseq.proteinCoordStr_2=p.K265E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.start_1=75982419;refseq.start_2=75982419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Glu;refseq.variantCodon_1=CGA;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr7 75982496 . T C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=96.47;MQ0=0;OQ=547.80;QD=30.43;RankSumP=1.00000;SB=-241.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.955T>C;refseq.codingCoordStr_2=c.*39T>C;refseq.codonCoord_1=319;refseq.end_1=75982496;refseq.end_2=75982496;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1095;refseq.name2_1=UPK3B;refseq.name2_2=UPK3B;refseq.name_1=NM_030570;refseq.name_2=NM_182684;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.W319R;refseq.referenceAA_1=Trp;refseq.referenceCodon_1=TGG;refseq.spliceDist_1=199;refseq.spliceDist_2=199;refseq.start_1=75982496;refseq.start_2=75982496;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantCodon_1=CGG;set=Intersection GT 1/1 chr7 76709049 . A G 326.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=99.00;MQ0=0;OQ=2782.97;QD=17.07;RankSumP=0.487900;SB=-1130.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.345A>G;refseq.codonCoord=115;refseq.end=76709049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_020879;refseq.name2=CCDC146;refseq.positionType=CDS;refseq.proteinCoordStr=p.A115A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-105;refseq.start=76709049;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr7 76723705 . A G 272.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.82;MQ0=0;OQ=5763.53;QD=22.69;RankSumP=0.368983;SB=-1635.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.627A>G;refseq.codonCoord=209;refseq.end=76723705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_020879;refseq.name2=CCDC146;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q209Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-58;refseq.start=76723705;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr7 76873328 . T C 385.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1272.85;QD=38.57;RankSumP=1.00000;SB=-585.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.140A>G;refseq.codonCoord=47;refseq.end=76873328;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_017439;refseq.name2=PION;refseq.positionType=CDS;refseq.proteinCoordStr=p.H47R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=31;refseq.start=76873328;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr7 77085757 . G A 303.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.70;MQ0=0;OQ=8092.22;QD=43.04;RankSumP=1.00000;SB=-2735.06;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.607G>A;refseq.codingCoordStr_2=c.574G>A;refseq.codingCoordStr_3=c.964G>A;refseq.codonCoord_1=203;refseq.codonCoord_2=192;refseq.codonCoord_3=322;refseq.end_1=77085757;refseq.end_2=77085757;refseq.end_3=77085757;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=937;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=1055;refseq.name2_1=PTPN12;refseq.name2_2=PTPN12;refseq.name2_3=PTPN12;refseq.name_1=NM_001131008;refseq.name_2=NM_001131009;refseq.name_3=NM_002835;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V203I;refseq.proteinCoordStr_2=p.V192I;refseq.proteinCoordStr_3=p.V322I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=77085757;refseq.start_2=77085757;refseq.start_3=77085757;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/1 chr7 77103076 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=98.91;MQ0=0;OQ=1881.05;QD=14.70;RankSumP=0.455840;SB=-830.17;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1759G>A;refseq.codingCoordStr_2=c.1726G>A;refseq.codingCoordStr_3=c.2116G>A;refseq.codonCoord_1=587;refseq.codonCoord_2=576;refseq.codonCoord_3=706;refseq.end_1=77103076;refseq.end_2=77103076;refseq.end_3=77103076;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2089;refseq.mrnaCoord_2=1993;refseq.mrnaCoord_3=2207;refseq.name2_1=PTPN12;refseq.name2_2=PTPN12;refseq.name2_3=PTPN12;refseq.name_1=NM_001131008;refseq.name_2=NM_001131009;refseq.name_3=NM_002835;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E587K;refseq.proteinCoordStr_2=p.E576K;refseq.proteinCoordStr_3=p.E706K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=77103076;refseq.start_2=77103076;refseq.start_3=77103076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/0 chr7 77203706 rs3764824 A G 62.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=127.51;QD=31.88;SB=-10.00;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.630A>G;refseq.codonCoord=210;refseq.end=77203706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_198467;refseq.name2=RSBN1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E210E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=44;refseq.start=77203706;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=gatk GT:AD:DP:GL:GQ 1/1:0,4:4:-16.28,-1.20,-0.00:12.04 chr7 77217267 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=98.92;MQ0=0;OQ=131.29;QD=1.16;RankSumP=0.00000;SB=35.14;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1294T>G;refseq.codonCoord=432;refseq.end=77217267;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1338;refseq.name=NM_198467;refseq.name2=RSBN1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L432V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-51;refseq.start=77217267;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr7 77261510 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=2;HaplotypeScore=7.17;MQ=98.50;MQ0=0;OQ=6236.34;QD=41.03;RankSumP=1.00000;SB=-2455.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=77261510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=344;refseq.name=NM_032936;refseq.name2=TMEM60;refseq.positionType=CDS;refseq.proteinCoordStr=p.F39F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=167;refseq.start=77261510;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr7 77594516 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=533;Dels=0.00;HRun=0;HaplotypeScore=12.20;MQ=98.76;MQ0=0;OQ=18858.86;QD=35.38;RankSumP=1.00000;SB=-8760.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3357A>G;refseq.codonCoord=1119;refseq.end=77594516;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3611;refseq.name=NM_012301;refseq.name2=MAGI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1119L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-67;refseq.start=77594516;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr7 77594660 . C T 401.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=98.67;MQ0=0;OQ=6553.89;QD=37.67;RankSumP=1.00000;SB=-947.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3213G>A;refseq.codonCoord=1071;refseq.end=77594660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3467;refseq.name=NM_012301;refseq.name2=MAGI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1071S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=77594660;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr7 77957045 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=188;Dels=0.00;HRun=5;HaplotypeScore=3.68;MQ=98.27;MQ0=0;OQ=2374.65;QD=12.63;RankSumP=0.00142559;SB=-1206.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1014G>A;refseq.codonCoord=338;refseq.end=77957045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_012301;refseq.name2=MAGI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K338K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-32;refseq.start=77957045;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 0/1 chr7 80212278 . A G 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=98.74;MQ0=0;OQ=21153.03;QD=41.97;RankSumP=1.00000;SB=-10254.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2124T>C;refseq.codonCoord=708;refseq.end=80212278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2686;refseq.name=NM_006379;refseq.name2=SEMA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y708Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=282;refseq.start=80212278;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr7 80212374 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.95;MQ0=0;OQ=8054.97;QD=28.46;RankSumP=1.00000;SB=-3369.40;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2028A>G;refseq.codonCoord=676;refseq.end=80212374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2590;refseq.name=NM_006379;refseq.name2=SEMA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P676P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=186;refseq.start=80212374;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr7 80216255 . G C 189.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.94;MQ0=0;OQ=4925.21;QD=48.76;RankSumP=1.00000;SB=-1992.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1737C>G;refseq.codonCoord=579;refseq.end=80216255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2299;refseq.name=NM_006379;refseq.name2=SEMA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V579V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=26;refseq.start=80216255;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr7 80265431 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=3;HaplotypeScore=3.57;MQ=98.92;MQ0=0;OQ=1141.40;QD=10.28;RankSumP=0.269655;SB=-365.26;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1044G>T;refseq.codonCoord=348;refseq.end=80265431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1606;refseq.name=NM_006379;refseq.name2=SEMA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V348V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=58;refseq.start=80265431;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr7 81505404 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=99.00;MQ0=0;OQ=2452.35;QD=19.01;RankSumP=0.275299;SB=-580.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.963G>A;refseq.codonCoord=321;refseq.end=81505404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_000722;refseq.name2=CACNA2D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A321A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-76;refseq.start=81505404;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr7 81552059 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=217;Dels=0.00;HRun=2;HaplotypeScore=24.59;MQ=97.33;MQ0=0;OQ=174.99;QD=0.81;RankSumP=0.00000;SB=224.76;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.620T>G;refseq.codonCoord=207;refseq.end=81552059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_000722;refseq.name2=CACNA2D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V207G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-39;refseq.start=81552059;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr7 82875687 . C A 323.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=11.79;MQ=98.86;MQ0=0;OQ=4572.51;QD=17.45;RankSumP=0.262119;SB=-1636.52;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.603G>T;refseq.codonCoord=201;refseq.end=82875687;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_012431;refseq.name2=SEMA3E;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=53;refseq.start=82875687;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr7 83428788 . T C 196.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=98.75;MQ0=0;OQ=15200.51;QD=38.88;RankSumP=1.00000;SB=-7373.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2151A>G;refseq.codonCoord=717;refseq.end=83428788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2466;refseq.name=NM_006080;refseq.name2=SEMA3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T717T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=291;refseq.start=83428788;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 86377187 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.2236T>G;refseq.codingCoordStr_3=c.1735T>G;refseq.codonCoord_2=746;refseq.codonCoord_3=579;refseq.end_1=86377187;refseq.end_2=86377187;refseq.end_3=86377187;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2179;refseq.mrnaCoord_2=2421;refseq.mrnaCoord_3=2018;refseq.name2_1=KIAA1324L;refseq.name2_2=KIAA1324L;refseq.name2_3=KIAA1324L;refseq.name_1=NR_030672;refseq.name_2=NM_001142749;refseq.name_3=NM_152748;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S746A;refseq.proteinCoordStr_3=p.S579A;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=86377187;refseq.start_2=86377187;refseq.start_3=86377187;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=FilteredInAll GT 0/1 chr7 86380414 . T G 31.65 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=234;Dels=0.00;HRun=1;HaplotypeScore=15.59;MQ=97.59;MQ0=0;QD=0.14;RankSumP=0.00000;SB=351.16;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1774A>C;refseq.codingCoordStr_3=c.1273A>C;refseq.codonCoord_2=592;refseq.codonCoord_3=425;refseq.end_1=86380414;refseq.end_2=86380414;refseq.end_3=86380414;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1717;refseq.mrnaCoord_2=1959;refseq.mrnaCoord_3=1556;refseq.name2_1=KIAA1324L;refseq.name2_2=KIAA1324L;refseq.name2_3=KIAA1324L;refseq.name_1=NR_030672;refseq.name_2=NM_001142749;refseq.name_3=NM_152748;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T592P;refseq.proteinCoordStr_3=p.T425P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=86380414;refseq.start_2=86380414;refseq.start_3=86380414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr7 86638287 . A G 295.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=8.47;MQ=98.88;MQ0=0;OQ=13400.84;QD=38.96;RankSumP=1.00000;SB=-6026.06;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_3=c.9A>G;refseq.codingCoordStr_4=c.273A>G;refseq.codingCoordStr_5=c.273A>G;refseq.codonCoord_3=3;refseq.codonCoord_4=91;refseq.codonCoord_5=91;refseq.end_1=86638287;refseq.end_2=86638287;refseq.end_3=86638287;refseq.end_4=86638287;refseq.end_5=86638287;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=599;refseq.mrnaCoord_2=599;refseq.mrnaCoord_3=482;refseq.mrnaCoord_4=599;refseq.mrnaCoord_5=836;refseq.name2_1=DMTF1;refseq.name2_2=DMTF1;refseq.name2_3=DMTF1;refseq.name2_4=DMTF1;refseq.name2_5=DMTF1;refseq.name_1=NR_024549;refseq.name_2=NR_024550;refseq.name_3=NM_001142326;refseq.name_4=NM_001142327;refseq.name_5=NM_021145;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.A3A;refseq.proteinCoordStr_4=p.A91A;refseq.proteinCoordStr_5=p.A91A;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.spliceDist_4=41;refseq.spliceDist_5=41;refseq.start_1=86638287;refseq.start_2=86638287;refseq.start_3=86638287;refseq.start_4=86638287;refseq.start_5=86638287;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;set=Intersection GT 1/1 chr7 86651767 . C G 112.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=2;HaplotypeScore=2.48;MQ=98.75;MQ0=0;OQ=2941.73;QD=20.57;RankSumP=0.0179474;SB=-1369.04;SecondBestBaseQ=28;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_3=c.675C>G;refseq.codingCoordStr_4=c.939C>G;refseq.codingCoordStr_5=c.939C>G;refseq.codonCoord_3=225;refseq.codonCoord_4=313;refseq.codonCoord_5=313;refseq.end_1=86651767;refseq.end_2=86651767;refseq.end_3=86651767;refseq.end_4=86651767;refseq.end_5=86651767;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1476;refseq.mrnaCoord_2=1437;refseq.mrnaCoord_3=1148;refseq.mrnaCoord_4=1265;refseq.mrnaCoord_5=1502;refseq.name2_1=DMTF1;refseq.name2_2=DMTF1;refseq.name2_3=DMTF1;refseq.name2_4=DMTF1;refseq.name2_5=DMTF1;refseq.name_1=NR_024549;refseq.name_2=NR_024550;refseq.name_3=NM_001142326;refseq.name_4=NM_001142327;refseq.name_5=NM_021145;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.V225V;refseq.proteinCoordStr_4=p.V313V;refseq.proteinCoordStr_5=p.V313V;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=-111;refseq.spliceDist_2=-111;refseq.spliceDist_3=-111;refseq.spliceDist_4=-111;refseq.spliceDist_5=-111;refseq.start_1=86651767;refseq.start_2=86651767;refseq.start_3=86651767;refseq.start_4=86651767;refseq.start_5=86651767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/0 chr7 86910628 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=189;Dels=0.00;HRun=3;HaplotypeScore=11.76;MQ=98.16;MQ0=0;OQ=143.08;QD=0.76;RankSumP=0.00000;SB=230.75;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1299T>G;refseq.codingCoordStr_2=c.1299T>G;refseq.codingCoordStr_3=c.1299T>G;refseq.codonCoord_1=433;refseq.codonCoord_2=433;refseq.codonCoord_3=433;refseq.end_1=86910628;refseq.end_2=86910628;refseq.end_3=86910628;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1375;refseq.mrnaCoord_2=1375;refseq.mrnaCoord_3=1375;refseq.name2_1=ABCB4;refseq.name2_2=ABCB4;refseq.name2_3=ABCB4;refseq.name_1=NM_000443;refseq.name_2=NM_018849;refseq.name_3=NM_018850;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C433W;refseq.proteinCoordStr_2=p.C433W;refseq.proteinCoordStr_3=p.C433W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=86910628;refseq.start_2=86910628;refseq.start_3=86910628;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 0/1 chr7 86917342 . T A 201.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=8.54;MQ=98.71;MQ0=0;OQ=4216.53;QD=18.49;RankSumP=0.147582;SB=-1275.48;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.711A>T;refseq.codingCoordStr_2=c.711A>T;refseq.codingCoordStr_3=c.711A>T;refseq.codonCoord_1=237;refseq.codonCoord_2=237;refseq.codonCoord_3=237;refseq.end_1=86917342;refseq.end_2=86917342;refseq.end_3=86917342;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=787;refseq.mrnaCoord_2=787;refseq.mrnaCoord_3=787;refseq.name2_1=ABCB4;refseq.name2_2=ABCB4;refseq.name2_3=ABCB4;refseq.name_1=NM_000443;refseq.name_2=NM_018849;refseq.name_3=NM_018850;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I237I;refseq.proteinCoordStr_2=p.I237I;refseq.proteinCoordStr_3=p.I237I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=86917342;refseq.start_2=86917342;refseq.start_3=86917342;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr7 86930121 . G A 171.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=5.59;MQ=98.83;MQ0=0;OQ=3786.27;QD=21.51;RankSumP=0.0210641;SB=-1150.42;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.175C>T;refseq.codingCoordStr_2=c.175C>T;refseq.codingCoordStr_3=c.175C>T;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=86930121;refseq.end_2=86930121;refseq.end_3=86930121;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=251;refseq.mrnaCoord_2=251;refseq.mrnaCoord_3=251;refseq.name2_1=ABCB4;refseq.name2_2=ABCB4;refseq.name2_3=ABCB4;refseq.name_1=NM_000443;refseq.name_2=NM_018849;refseq.name_3=NM_018850;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L59L;refseq.proteinCoordStr_2=p.L59L;refseq.proteinCoordStr_3=p.L59L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=86930121;refseq.start_2=86930121;refseq.start_3=86930121;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr7 86976581 . A G 274.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=98.93;MQ0=0;OQ=5293.63;QD=16.49;RankSumP=0.390371;SB=-1766.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3435T>C;refseq.codonCoord=1145;refseq.end=86976581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3853;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1145I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-55;refseq.start=86976581;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr7 86982543 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3222T>G;refseq.codonCoord=1074;refseq.end=86982543;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3640;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1074W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-61;refseq.start=86982543;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr7 86998554 . A C 199.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=12.09;MQ=98.95;MQ0=0;OQ=15371.71;QD=42.35;RankSumP=1.00000;SB=-3976.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2677T>G;refseq.codonCoord=893;refseq.end=86998554;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3095;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S893A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=86998554;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 87017480 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1293T>G;refseq.codonCoord=431;refseq.end=87017480;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1711;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C431W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-58;refseq.start=87017480;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr7 87017537 . A G 332.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.39;MQ0=0;OQ=9504.37;QD=39.93;RankSumP=1.00000;SB=-4259.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1236T>C;refseq.codonCoord=412;refseq.end=87017537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G412G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=12;refseq.start=87017537;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr7 87067437 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=2;HaplotypeScore=5.29;MQ=98.51;MQ0=0;OQ=2122.79;QD=14.44;RankSumP=0.206222;SB=-923.79;SecondBestBaseQ=32;refseq.chr=chr7;refseq.codingCoordStr=c.-1A>G;refseq.end=87067437;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=418;refseq.name=NM_000927;refseq.name2=ABCB1;refseq.positionType=utr5;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=87067437;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr7 87345342 . C T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.124695;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.85C>T;refseq.codonCoord=29;refseq.end=87345342;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L29L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=39;refseq.start=87345342;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr7 87345385 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.474228;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.128G>A;refseq.codonCoord=43;refseq.end=87345385;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C43Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=82;refseq.start=87345385;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/0 chr7 87375041 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.228428;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1652T>C;refseq.codonCoord=551;refseq.end=87375041;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2156;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F551S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=603;refseq.start=87375041;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr7 87375042 . C A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.228428;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1653C>A;refseq.codonCoord=551;refseq.end=87375042;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2157;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F551L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=604;refseq.start=87375042;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr7 87375130 . A T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.349838;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1741A>T;refseq.codonCoord=581;refseq.end=87375130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2245;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I581L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=692;refseq.start=87375130;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr7 87375225 . T A 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.600483;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1836T>A;refseq.codonCoord=612;refseq.end=87375225;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2340;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S612R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=787;refseq.start=87375225;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr7 87375245 . T C 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.707803;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1856T>C;refseq.codonCoord=619;refseq.end=87375245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2360;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L619P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=807;refseq.start=87375245;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr7 87375300 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.445073;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1911C>T;refseq.codonCoord=637;refseq.end=87375300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2415;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y637Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=862;refseq.start=87375300;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 0/1 chr7 87375303 . A G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.685847;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1914A>G;refseq.codonCoord=638;refseq.end=87375303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2418;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T638T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=865;refseq.start=87375303;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 0/1 chr7 87375371 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.107768;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1982C>T;refseq.codonCoord=661;refseq.end=87375371;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2486;refseq.name=NM_006716;refseq.name2=DBF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A661V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=933;refseq.start=87375371;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 0/1 chr7 87402433 . C G 178.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.54;MQ0=0;OQ=1925.24;QD=42.78;RankSumP=1.00000;SB=-56.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.242C>G;refseq.codingCoordStr_2=c.242C>G;refseq.codingCoordStr_3=c.242C>G;refseq.codingCoordStr_4=c.242C>G;refseq.codingCoordStr_5=c.242C>G;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.codonCoord_3=81;refseq.codonCoord_4=81;refseq.codonCoord_5=81;refseq.end_1=87402433;refseq.end_2=87402433;refseq.end_3=87402433;refseq.end_4=87402433;refseq.end_5=87402433;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=321;refseq.mrnaCoord_3=321;refseq.mrnaCoord_4=321;refseq.mrnaCoord_5=321;refseq.name2_1=ADAM22;refseq.name2_2=ADAM22;refseq.name2_3=ADAM22;refseq.name2_4=ADAM22;refseq.name2_5=ADAM22;refseq.name_1=NM_004194;refseq.name_2=NM_016351;refseq.name_3=NM_021721;refseq.name_4=NM_021722;refseq.name_5=NM_021723;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P81R;refseq.proteinCoordStr_2=p.P81R;refseq.proteinCoordStr_3=p.P81R;refseq.proteinCoordStr_4=p.P81R;refseq.proteinCoordStr_5=p.P81R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceDist_4=-5;refseq.spliceDist_5=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.spliceInfo_4=splice-donor_-5;refseq.spliceInfo_5=splice-donor_-5;refseq.start_1=87402433;refseq.start_2=87402433;refseq.start_3=87402433;refseq.start_4=87402433;refseq.start_5=87402433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;set=Intersection GT 1/1 chr7 87601605 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.1103T>G;refseq.codingCoordStr_2=c.1103T>G;refseq.codingCoordStr_3=c.1103T>G;refseq.codingCoordStr_4=c.1103T>G;refseq.codingCoordStr_5=c.1103T>G;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.codonCoord_3=368;refseq.codonCoord_4=368;refseq.codonCoord_5=368;refseq.end_1=87601605;refseq.end_2=87601605;refseq.end_3=87601605;refseq.end_4=87601605;refseq.end_5=87601605;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1182;refseq.mrnaCoord_3=1182;refseq.mrnaCoord_4=1182;refseq.mrnaCoord_5=1182;refseq.name2_1=ADAM22;refseq.name2_2=ADAM22;refseq.name2_3=ADAM22;refseq.name2_4=ADAM22;refseq.name2_5=ADAM22;refseq.name_1=NM_004194;refseq.name_2=NM_016351;refseq.name_3=NM_021721;refseq.name_4=NM_021722;refseq.name_5=NM_021723;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V368G;refseq.proteinCoordStr_2=p.V368G;refseq.proteinCoordStr_3=p.V368G;refseq.proteinCoordStr_4=p.V368G;refseq.proteinCoordStr_5=p.V368G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.start_1=87601605;refseq.start_2=87601605;refseq.start_3=87601605;refseq.start_4=87601605;refseq.start_5=87601605;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 1/0 chr7 87749923 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=210;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.38;MQ0=0;OQ=2265.04;QD=10.79;RankSumP=0.234860;SB=-1084.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.953G>T;refseq.codonCoord=318;refseq.end=87749923;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_024636;refseq.name2=STEAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R318L;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-32;refseq.start=87749923;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr7 87751297 . C T 255.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=98.94;MQ0=0;OQ=13115.91;QD=42.17;RankSumP=1.00000;SB=-6318.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.224G>A;refseq.codonCoord=75;refseq.end=87751297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=329;refseq.name=NM_024636;refseq.name2=STEAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G75D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=226;refseq.start=87751297;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr7 88261817 . T C 313.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=99.00;MQ0=0;OQ=2793.05;QD=20.84;RankSumP=0.362979;SB=-1243.32;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.376A>G;refseq.codonCoord_2=126;refseq.end_1=88685394;refseq.end_2=88261817;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=558;refseq.name2_1=ZNF804B;refseq.name2_2=MGC26647;refseq.name_1=NM_181646;refseq.name_2=NM_152706;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I126V;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=-462;refseq.start_1=88227345;refseq.start_2=88261817;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr7 88262051 . C G 187.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.89;MQ0=0;OQ=8851.77;QD=22.35;RankSumP=0.490735;SB=-3740.10;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.142G>C;refseq.codonCoord_2=48;refseq.end_1=88685394;refseq.end_2=88262051;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=324;refseq.name2_1=ZNF804B;refseq.name2_2=MGC26647;refseq.name_1=NM_181646;refseq.name_2=NM_152706;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D48H;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=246;refseq.start_1=88227345;refseq.start_2=88262051;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr7 88803095 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1103.81;QD=15.33;RankSumP=0.369369;SB=-510.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2863T>G;refseq.codonCoord=955;refseq.end=88803095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3401;refseq.name=NM_181646;refseq.name2=ZNF804B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L955V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-1188;refseq.start=88803095;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr7 89627075 . C A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.421621;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.37C>A;refseq.codonCoord=13;refseq.end=89627075;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-48;refseq.start=89627075;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr7 89628058 . A G 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.309376;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.88A>G;refseq.codonCoord=30;refseq.end=89628058;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K30E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=89628058;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr7 89628111 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431589;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.141C>G;refseq.codonCoord=47;refseq.end=89628111;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H47Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=57;refseq.start=89628111;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr7 89628160 . A G 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.465256;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.190A>G;refseq.codonCoord=64;refseq.end=89628160;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T64A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=106;refseq.start=89628160;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 0/1 chr7 89628208 . A G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.326474;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.238A>G;refseq.codonCoord=80;refseq.end=89628208;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I80V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=154;refseq.start=89628208;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 0/1 chr7 89628213 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.176601;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.243A>G;refseq.codonCoord=81;refseq.end=89628213;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I81M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=159;refseq.start=89628213;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr7 89628363 . G A 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.467069;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.393G>A;refseq.codonCoord=131;refseq.end=89628363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L131L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-205;refseq.start=89628363;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap GT 1/0 chr7 89629245 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.337099;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.679T>C;refseq.codonCoord=227;refseq.end=89629245;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_012449;refseq.name2=STEAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L227L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=82;refseq.start=89629245;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr7 89692382 . T G 164.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=16.85;MQ=98.97;MQ0=0;OQ=8847.47;QD=23.41;RankSumP=0.424082;SB=-3304.76;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.50T>G;refseq.codingCoordStr_2=c.50T>G;refseq.codingCoordStr_3=c.50T>G;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.end_1=89692382;refseq.end_2=89692382;refseq.end_3=89692382;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=219;refseq.mrnaCoord_2=237;refseq.mrnaCoord_3=443;refseq.name2_1=STEAP2;refseq.name2_2=STEAP2;refseq.name2_3=STEAP2;refseq.name_1=NM_001040665;refseq.name_2=NM_001040666;refseq.name_3=NM_152999;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F17C;refseq.proteinCoordStr_2=p.F17C;refseq.proteinCoordStr_3=p.F17C;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.spliceDist_3=83;refseq.start_1=89692382;refseq.start_2=89692382;refseq.start_3=89692382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/0 chr7 89694544 . C T 259.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=99.00;MQ0=0;OQ=4923.44;QD=18.79;RankSumP=0.241326;SB=-2018.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.816C>T;refseq.codingCoordStr_2=c.816C>T;refseq.codingCoordStr_3=c.816C>T;refseq.codonCoord_1=272;refseq.codonCoord_2=272;refseq.codonCoord_3=272;refseq.end_1=89694544;refseq.end_2=89694544;refseq.end_3=89694544;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=1003;refseq.mrnaCoord_3=1209;refseq.name2_1=STEAP2;refseq.name2_2=STEAP2;refseq.name2_3=STEAP2;refseq.name_1=NM_001040665;refseq.name_2=NM_001040666;refseq.name_3=NM_152999;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L272L;refseq.proteinCoordStr_2=p.L272L;refseq.proteinCoordStr_3=p.L272L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-205;refseq.spliceDist_2=-205;refseq.spliceDist_3=-205;refseq.start_1=89694544;refseq.start_2=89694544;refseq.start_3=89694544;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 0/1 chr7 89694580 . C T 283.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.96;MQ0=0;OQ=5791.86;QD=18.50;RankSumP=0.0819578;SB=-2405.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.852C>T;refseq.codingCoordStr_2=c.852C>T;refseq.codingCoordStr_3=c.852C>T;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.codonCoord_3=284;refseq.end_1=89694580;refseq.end_2=89694580;refseq.end_3=89694580;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1021;refseq.mrnaCoord_2=1039;refseq.mrnaCoord_3=1245;refseq.name2_1=STEAP2;refseq.name2_2=STEAP2;refseq.name2_3=STEAP2;refseq.name_1=NM_001040665;refseq.name_2=NM_001040666;refseq.name_3=NM_152999;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y284Y;refseq.proteinCoordStr_2=p.Y284Y;refseq.proteinCoordStr_3=p.Y284Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-169;refseq.spliceDist_2=-169;refseq.spliceDist_3=-169;refseq.start_1=89694580;refseq.start_2=89694580;refseq.start_3=89694580;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 0/1 chr7 89699768 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.87;MQ0=0;OQ=1641.49;QD=13.57;RankSumP=0.438944;SB=-759.52;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1367G>A;refseq.codingCoordStr_3=c.1367G>A;refseq.codonCoord_2=456;refseq.codonCoord_3=456;refseq.end_1=89704130;refseq.end_2=89699768;refseq.end_3=89699768;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1536;refseq.mrnaCoord_3=1760;refseq.name2_1=STEAP2;refseq.name2_2=STEAP2;refseq.name2_3=STEAP2;refseq.name_1=NM_001040666;refseq.name_2=NM_001040665;refseq.name_3=NM_152999;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R456Q;refseq.proteinCoordStr_3=p.R456Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_2=182;refseq.spliceDist_3=182;refseq.start_1=89699745;refseq.start_2=89699768;refseq.start_3=89699768;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/0 chr7 89699826 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.81;MQ0=0;OQ=1604.72;QD=10.03;RankSumP=0.212023;SB=-801.72;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1425G>T;refseq.codingCoordStr_3=c.1425G>T;refseq.codonCoord_2=475;refseq.codonCoord_3=475;refseq.end_1=89704130;refseq.end_2=89699826;refseq.end_3=89699826;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1594;refseq.mrnaCoord_3=1818;refseq.name2_1=STEAP2;refseq.name2_2=STEAP2;refseq.name2_3=STEAP2;refseq.name_1=NM_001040666;refseq.name_2=NM_001040665;refseq.name_3=NM_152999;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.M475I;refseq.proteinCoordStr_3=p.M475I;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_2=240;refseq.spliceDist_3=240;refseq.start_1=89699745;refseq.start_2=89699826;refseq.start_3=89699826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr7 89750237 . G A 310.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.42;MQ0=0;OQ=4503.25;QD=18.92;RankSumP=0.399094;SB=-1130.02;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1468G>A;refseq.codingCoordStr_2=c.1414G>A;refseq.codonCoord_1=490;refseq.codonCoord_2=472;refseq.end_1=89750237;refseq.end_2=89750237;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1719;refseq.mrnaCoord_2=1665;refseq.name2_1=C7orf63;refseq.name2_2=C7orf63;refseq.name_1=NM_001039706;refseq.name_2=NM_001160138;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V490M;refseq.proteinCoordStr_2=p.V472M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=89750237;refseq.start_2=89750237;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr7 89776524 . C G 145.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=7.44;MQ=98.67;MQ0=0;OQ=3085.19;QD=15.82;RankSumP=0.0841810;SB=-692.99;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2562C>G;refseq.codingCoordStr_2=c.2508C>G;refseq.codonCoord_1=854;refseq.codonCoord_2=836;refseq.end_1=89776524;refseq.end_2=89776524;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2813;refseq.mrnaCoord_2=2759;refseq.name2_1=C7orf63;refseq.name2_2=C7orf63;refseq.name_1=NM_001039706;refseq.name_2=NM_001160138;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S854R;refseq.proteinCoordStr_2=p.S836R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=89776524;refseq.start_2=89776524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr7 89776616 . C T 251.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=6.04;MQ=98.89;MQ0=0;OQ=5165.58;QD=17.57;RankSumP=0.424403;SB=-1460.33;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2654C>T;refseq.codingCoordStr_2=c.2600C>T;refseq.codonCoord_1=885;refseq.codonCoord_2=867;refseq.end_1=89776616;refseq.end_2=89776616;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2905;refseq.mrnaCoord_2=2851;refseq.name2_1=C7orf63;refseq.name2_2=C7orf63;refseq.name_1=NM_001039706;refseq.name_2=NM_001160138;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T885M;refseq.proteinCoordStr_2=p.T867M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=89776616;refseq.start_2=89776616;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr7 89821744 . T G 186.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=98.74;MQ0=0;OQ=3233.06;QD=14.63;RankSumP=0.436332;SB=-1427.33;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.264T>G;refseq.codonCoord_2=88;refseq.end_1=89839394;refseq.end_2=89821744;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=330;refseq.name2_1=GTPBP10;refseq.name2_2=GTPBP10;refseq.name_1=NM_001042717;refseq.name_2=NM_033107;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C88W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=37;refseq.start_1=89820270;refseq.start_2=89821744;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=Intersection GT 1/0 chr7 89822345 . A G 332.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.86;MQ0=0;OQ=4248.34;QD=20.04;RankSumP=0.353639;SB=-1253.83;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.329A>G;refseq.codonCoord_2=110;refseq.end_1=89839394;refseq.end_2=89822345;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=395;refseq.name2_1=GTPBP10;refseq.name2_2=GTPBP10;refseq.name_1=NM_001042717;refseq.name_2=NM_033107;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N110S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=89820270;refseq.start_2=89822345;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr7 89839432 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=502.68;QD=12.57;RankSumP=0.288713;SB=-182.57;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.255G>C;refseq.codingCoordStr_2=c.492G>C;refseq.codonCoord_1=85;refseq.codonCoord_2=164;refseq.end_1=89839432;refseq.end_2=89839432;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=558;refseq.name2_1=GTPBP10;refseq.name2_2=GTPBP10;refseq.name_1=NM_001042717;refseq.name_2=NM_033107;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L85F;refseq.proteinCoordStr_2=p.L164F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=89839432;refseq.start_2=89839432;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr7 89852344 . G A 267.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=16.16;MQ=98.91;MQ0=0;OQ=6683.17;QD=18.06;RankSumP=0.0911755;SB=-1791.20;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.867G>A;refseq.codingCoordStr_2=c.1104G>A;refseq.codonCoord_1=289;refseq.codonCoord_2=368;refseq.end_1=89852344;refseq.end_2=89852344;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=933;refseq.mrnaCoord_2=1170;refseq.name2_1=GTPBP10;refseq.name2_2=GTPBP10;refseq.name_1=NM_001042717;refseq.name_2=NM_033107;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M289I;refseq.proteinCoordStr_2=p.M368I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=203;refseq.spliceDist_2=203;refseq.start_1=89852344;refseq.start_2=89852344;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr7 90732395 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.363636;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.264A>G;refseq.codonCoord=88;refseq.end=90732395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_003505;refseq.name2=FZD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q88Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=677;refseq.start=90732395;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 0/1 chr7 91341164 . C T 216.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.94;MQ0=0;OQ=2946.79;QD=14.30;RankSumP=0.146243;SB=-1405.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.880G>A;refseq.codonCoord=294;refseq.end=91341164;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_006980;refseq.name2=MTERF;refseq.positionType=CDS;refseq.proteinCoordStr=p.A294T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=851;refseq.start=91341164;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr7 91468556 . G T 186.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=3.08;MQ=98.93;MQ0=0;OQ=1896.22;QD=14.81;RankSumP=0.168425;SB=-877.29;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1389G>T;refseq.codingCoordStr_2=c.1389G>T;refseq.codonCoord_1=463;refseq.codonCoord_2=463;refseq.end_1=91468556;refseq.end_2=91468556;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1614;refseq.mrnaCoord_2=1614;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M463I;refseq.proteinCoordStr_2=p.M463I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=459;refseq.spliceDist_2=459;refseq.start_1=91468556;refseq.start_2=91468556;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr7 91470242 . C T 308.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.56;MQ0=0;OQ=12263.42;QD=41.71;RankSumP=1.00000;SB=-3301.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.3075C>T;refseq.codingCoordStr_2=c.3075C>T;refseq.codonCoord_1=1025;refseq.codonCoord_2=1025;refseq.end_1=91470242;refseq.end_2=91470242;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3300;refseq.mrnaCoord_2=3300;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1025T;refseq.proteinCoordStr_2=p.T1025T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-244;refseq.spliceDist_2=-244;refseq.start_1=91470242;refseq.start_2=91470242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr7 91479864 . A G 261.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.92;MQ0=0;OQ=4837.60;QD=23.37;RankSumP=0.111140;SB=-1782.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.3504A>G;refseq.codingCoordStr_2=c.3504A>G;refseq.codonCoord_1=1168;refseq.codonCoord_2=1168;refseq.end_1=91479864;refseq.end_2=91479864;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3729;refseq.mrnaCoord_2=3729;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1168E;refseq.proteinCoordStr_2=p.E1168E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=91479864;refseq.start_2=91479864;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr7 91520182 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=4.97229e-09;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.5575G>A;refseq.codingCoordStr_2=c.5575G>A;refseq.codonCoord_1=1859;refseq.codonCoord_2=1859;refseq.end_1=91520182;refseq.end_2=91520182;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5800;refseq.mrnaCoord_2=5800;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1859K;refseq.proteinCoordStr_2=p.E1859K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=91520182;refseq.start_2=91520182;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr7 91529537 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.78;MQ0=0;OQ=1318.39;QD=11.88;RankSumP=0.360972;SB=-362.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.5778C>T;refseq.codingCoordStr_2=c.5778C>T;refseq.codonCoord_1=1926;refseq.codonCoord_2=1926;refseq.end_1=91529537;refseq.end_2=91529537;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6003;refseq.mrnaCoord_2=6003;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1926G;refseq.proteinCoordStr_2=p.G1926G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=91529537;refseq.start_2=91529537;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr7 91532679 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=112;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=2209.02;QD=19.72;RankSumP=0.373099;SB=-749.90;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.6176A>G;refseq.codingCoordStr_2=c.6176A>G;refseq.codonCoord_1=2059;refseq.codonCoord_2=2059;refseq.end_1=91532679;refseq.end_2=91532679;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6401;refseq.mrnaCoord_2=6401;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E2059G;refseq.proteinCoordStr_2=p.E2059G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=91532679;refseq.start_2=91532679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr7 91550634 . A G 241.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.82;MQ0=0;OQ=2956.96;QD=14.42;RankSumP=0.279710;SB=-1059.21;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.8375A>G;refseq.codingCoordStr_2=c.8351A>G;refseq.codonCoord_1=2792;refseq.codonCoord_2=2784;refseq.end_1=91550634;refseq.end_2=91550634;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8600;refseq.mrnaCoord_2=8576;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N2792S;refseq.proteinCoordStr_2=p.N2784S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=215;refseq.spliceDist_2=215;refseq.start_1=91550634;refseq.start_2=91550634;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr7 91551908 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=701.41;QD=12.99;RankSumP=0.648189;SB=-371.44;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.8665C>T;refseq.codingCoordStr_2=c.8641C>T;refseq.codonCoord_1=2889;refseq.codonCoord_2=2881;refseq.end_1=91551908;refseq.end_2=91551908;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8890;refseq.mrnaCoord_2=8866;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2889L;refseq.proteinCoordStr_2=p.L2881L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=91551908;refseq.start_2=91551908;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 0/1 chr7 91552847 . C T 415.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=8114.57;QD=42.93;RankSumP=1.00000;SB=-2509.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.8935C>T;refseq.codingCoordStr_2=c.8911C>T;refseq.codonCoord_1=2979;refseq.codonCoord_2=2971;refseq.end_1=91552847;refseq.end_2=91552847;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9160;refseq.mrnaCoord_2=9136;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2979S;refseq.proteinCoordStr_2=p.P2971S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.start_1=91552847;refseq.start_2=91552847;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr7 91553598 . C T 109.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.94;MQ0=0;OQ=2653.53;QD=17.23;RankSumP=0.0662654;SB=-1033.50;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.9145C>T;refseq.codingCoordStr_2=c.9121C>T;refseq.codonCoord_1=3049;refseq.codonCoord_2=3041;refseq.end_1=91553598;refseq.end_2=91553598;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9370;refseq.mrnaCoord_2=9346;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L3049L;refseq.proteinCoordStr_2=p.L3041L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.start_1=91553598;refseq.start_2=91553598;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr7 91564863 . A C 248.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=98.90;MQ0=0;OQ=1768.48;QD=18.62;RankSumP=0.348357;SB=-693.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.10426A>C;refseq.codingCoordStr_2=c.10402A>C;refseq.codonCoord_1=3476;refseq.codonCoord_2=3468;refseq.end_1=91564863;refseq.end_2=91564863;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=10651;refseq.mrnaCoord_2=10627;refseq.name2_1=AKAP9;refseq.name2_2=AKAP9;refseq.name_1=NM_005751;refseq.name_2=NM_147185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R3476R;refseq.proteinCoordStr_2=p.R3468R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=91564863;refseq.start_2=91564863;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 0/1 chr7 91581086 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=83.19;MQ0=8;OQ=1099.86;QD=21.15;RankSumP=0.487169;SB=-281.62;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1359T>C;refseq.codingCoordStr_2=c.1044T>C;refseq.codonCoord_1=453;refseq.codonCoord_2=348;refseq.end_1=91581086;refseq.end_2=91581086;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1521;refseq.mrnaCoord_2=1247;refseq.name2_1=CYP51A1;refseq.name2_2=CYP51A1;refseq.name_1=NM_000786;refseq.name_2=NM_001146152;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H453H;refseq.proteinCoordStr_2=p.H348H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=91581086;refseq.start_2=91581086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr7 91937132 . A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=184;Dels=0.00;HRun=2;HaplotypeScore=6.80;MQ=49.18;MQ0=39;OQ=212.22;QD=1.15;SB=-102.66;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:158,25:118:-60.04,-35.53,-449.25:99 chr7 91937157 . G A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=57.04;MQ0=18;OQ=88.97;QD=0.70;SB=-22.10;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:111,16:101:-42.59,-30.41,-355.07:99 chr7 91969225 . G T 276.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.67;MQ0=0;OQ=2945.29;QD=33.85;RankSumP=1.00000;SB=-743.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2331C>A;refseq.codonCoord=777;refseq.end=91969225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2427;refseq.name=NM_000466;refseq.name2=PEX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G777G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-86;refseq.start=91969225;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr7 92572387 . A G 293.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=99.00;MQ0=0;OQ=2011.81;QD=18.63;RankSumP=0.271521;SB=-824.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.960T>C;refseq.codonCoord=320;refseq.end=92572387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1216;refseq.name=NM_017654;refseq.name2=SAMD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y320Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=968;refseq.start=92572387;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr7 92572734 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.613A>C;refseq.codonCoord=205;refseq.end=92572734;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_017654;refseq.name2=SAMD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T205P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=621;refseq.start=92572734;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr7 92761886 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.chr=chr7;refseq.codingCoordStr=c.1167+2;refseq.end=92761886;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_017667;refseq.name2=CCDC132;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=92761886;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr7 92808783 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=1;HaplotypeScore=8.53;MQ=98.75;MQ0=0;OQ=8295.36;QD=16.52;RankSumP=0.0230876;SB=-3154.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2167C>T;refseq.codonCoord=723;refseq.end=92808783;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2295;refseq.name=NM_017667;refseq.name2=CCDC132;refseq.positionType=CDS;refseq.proteinCoordStr=p.L723L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-41;refseq.start=92808783;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr7 92893689 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=568;Dels=0.00;HRun=1;HaplotypeScore=20.68;MQ=98.82;MQ0=0;OQ=8332.22;QD=14.67;RankSumP=0.0189024;SB=-2259.51;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1442T>C;refseq.codingCoordStr_2=c.1340T>C;refseq.codingCoordStr_3=c.1340T>C;refseq.codonCoord_1=481;refseq.codonCoord_2=447;refseq.codonCoord_3=447;refseq.end_1=92893689;refseq.end_2=92893689;refseq.end_3=92893689;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1742;refseq.mrnaCoord_2=1656;refseq.mrnaCoord_3=1623;refseq.name2_1=CALCR;refseq.name2_2=CALCR;refseq.name2_3=CALCR;refseq.name_1=NM_001164737;refseq.name_2=NM_001164738;refseq.name_3=NM_001742;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L481P;refseq.proteinCoordStr_2=p.L447P;refseq.proteinCoordStr_3=p.L447P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.spliceDist_3=149;refseq.start_1=92893689;refseq.start_2=92893689;refseq.start_3=92893689;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr7 93881175 . C G 255.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.78;MQ0=0;OQ=4779.41;QD=16.15;RankSumP=0.493621;SB=-1808.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1645C>G;refseq.codonCoord=549;refseq.end=93881175;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2116;refseq.name=NM_000089;refseq.name2=COL1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P549A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-21;refseq.start=93881175;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr7 93890360 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2559T>G;refseq.codonCoord=853;refseq.end=93890360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3030;refseq.name=NM_000089;refseq.name2=COL1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G853G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=93890360;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 93894285 . C T 181.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=98.37;MQ0=0;OQ=4790.45;QD=19.55;RankSumP=0.379419;SB=-1849.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3135C>T;refseq.codonCoord=1045;refseq.end=93894285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3606;refseq.name=NM_000089;refseq.name2=COL1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1045G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-25;refseq.start=93894285;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr7 94784020 . A T 300.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=99.00;MQ0=0;OQ=7945.98;QD=40.54;RankSumP=1.00000;SB=-3665.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.163T>A;refseq.codonCoord=55;refseq.end=94784020;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_000446;refseq.name2=PON1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L55M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=18;refseq.start=94784020;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr7 94839491 . C T 333.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=11.72;MQ=98.88;MQ0=0;OQ=5673.97;QD=20.78;RankSumP=0.494574;SB=-2170.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.297G>A;refseq.codonCoord=99;refseq.end=94839491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_000940;refseq.name2=PON3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A99A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-71;refseq.start=94839491;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr7 95054351 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1002G>T;refseq.codonCoord=334;refseq.end=95054351;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1322;refseq.name=NM_002612;refseq.name2=PDK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L334F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=21;refseq.start=95054351;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr7 95506600 . C A 305 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.85;MQ0=0;OQ=4030.82;QD=18.24;RankSumP=0.000853314;SB=-1194.38;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1440C>A;refseq.codingCoordStr_2=c.1380C>A;refseq.codingCoordStr_3=c.1491C>A;refseq.codonCoord_1=480;refseq.codonCoord_2=460;refseq.codonCoord_3=497;refseq.end_1=95506600;refseq.end_2=95506600;refseq.end_3=95506600;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1717;refseq.mrnaCoord_2=1657;refseq.mrnaCoord_3=1768;refseq.name2_1=DYNC1I1;refseq.name2_2=DYNC1I1;refseq.name2_3=DYNC1I1;refseq.name_1=NM_001135556;refseq.name_2=NM_001135557;refseq.name_3=NM_004411;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G480G;refseq.proteinCoordStr_2=p.G460G;refseq.proteinCoordStr_3=p.G497G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.spliceDist_3=-70;refseq.start_1=95506600;refseq.start_2=95506600;refseq.start_3=95506600;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=filterInsoap-gatk GT 1/0 chr7 96156170 . T C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.444220;SecondBestBaseQ=34;refseq.chr=chr7;refseq.codingCoordStr=c.*2A>G;refseq.end=96156170;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=343;refseq.name=NM_006304;refseq.name2=SHFM1;refseq.positionType=utr3;refseq.spliceDist=45;refseq.start=96156170;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr7 97326505 . A T 335.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=98.91;MQ0=0;OQ=8137.11;QD=39.50;RankSumP=1.00000;SB=-3610.46;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.629T>A;refseq.codingCoordStr_2=c.629T>A;refseq.codingCoordStr_3=c.629T>A;refseq.codonCoord_1=210;refseq.codonCoord_2=210;refseq.codonCoord_3=210;refseq.end_1=97326505;refseq.end_2=97326505;refseq.end_3=97326505;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=1135;refseq.mrnaCoord_3=1158;refseq.name2_1=ASNS;refseq.name2_2=ASNS;refseq.name2_3=ASNS;refseq.name_1=NM_001673;refseq.name_2=NM_133436;refseq.name_3=NM_183356;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V210E;refseq.proteinCoordStr_2=p.V210E;refseq.proteinCoordStr_3=p.V210E;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=97326505;refseq.start_2=97326505;refseq.start_3=97326505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr7 97618695 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.442T>G;refseq.codonCoord=148;refseq.end=97618695;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_014916;refseq.name2=LMTK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F148V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=97618695;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr7 97659081 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1368T>G;refseq.codonCoord=456;refseq.end=97659081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1661;refseq.name=NM_014916;refseq.name2=LMTK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G456G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=220;refseq.start=97659081;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 97659708 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1995A>C;refseq.codonCoord=665;refseq.end=97659708;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2288;refseq.name=NM_014916;refseq.name2=LMTK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K665N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=847;refseq.start=97659708;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 97660051 . T A 165.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1406.09;QD=14.80;RankSumP=0.241178;SB=-530.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2338T>A;refseq.codonCoord=780;refseq.end=97660051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2631;refseq.name=NM_014916;refseq.name2=LMTK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L780M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=1190;refseq.start=97660051;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr7 97660146 . G A 252.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.70;MQ0=0;OQ=2117.97;QD=18.58;RankSumP=0.419254;SB=-757.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2433G>A;refseq.codonCoord=811;refseq.end=97660146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2726;refseq.name=NM_014916;refseq.name2=LMTK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P811P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1285;refseq.start=97660146;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr7 97760787 . C T 229.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=9.74;MQ=99.39;MQ0=0;OQ=2989.00;QD=14.30;RankSumP=0.0479239;SB=-1368.76;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1518G>A;refseq.codonCoord=506;refseq.end=97760787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1781;refseq.name=NM_018842;refseq.name2=BAIAP2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S506S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=58;refseq.start=97760787;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr7 97760812 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1493G>C;refseq.codonCoord=498;refseq.end=97760812;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1756;refseq.name=NM_018842;refseq.name2=BAIAP2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R498P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=33;refseq.start=97760812;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 97771537 . C T 100.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.78;MQ0=0;OQ=1437.76;QD=25.22;RankSumP=1.00000;SB=-682.91;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1329G>A;refseq.codonCoord=443;refseq.end=97771537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_018842;refseq.name2=BAIAP2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L443L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=88;refseq.start=97771537;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr7 98092295 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=4.20424e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.769C>G;refseq.codonCoord=257;refseq.end=98092295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_002523;refseq.name2=NPTX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R257G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-120;refseq.start=98092295;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 98298760 . C A 169.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.04;MQ0=0;OQ=2091.43;QD=33.73;RankSumP=1.00000;SB=-1039.69;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.285G>T;refseq.codingCoordStr_3=c.285G>T;refseq.codonCoord_2=95;refseq.codonCoord_3=95;refseq.end_1=98305325;refseq.end_2=98298760;refseq.end_3=98298760;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=474;refseq.mrnaCoord_3=474;refseq.name2_1=TMEM130;refseq.name2_2=TMEM130;refseq.name2_3=TMEM130;refseq.name_1=NM_001134451;refseq.name_2=NM_001134450;refseq.name_3=NM_152913;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V95V;refseq.proteinCoordStr_3=p.V95V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=-107;refseq.spliceDist_3=-107;refseq.start_1=98295908;refseq.start_2=98298760;refseq.start_3=98298760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr7 98397961 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.255926;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.6729C>A;refseq.codonCoord=2243;refseq.end=98397961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6938;refseq.name=NM_003496;refseq.name2=TRRAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2243T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-26;refseq.start=98397961;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr7 98999568 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.68458e-07;SecondBestBaseQ=10;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_5=c.283C>T;refseq.codingCoordStr_6=c.283C>T;refseq.codingCoordStr_7=c.496C>T;refseq.codingCoordStr_8=c.496C>T;refseq.codonCoord_5=95;refseq.codonCoord_6=95;refseq.codonCoord_7=166;refseq.codonCoord_8=166;refseq.end_1=99007236;refseq.end_2=99007236;refseq.end_3=99007793;refseq.end_4=99007793;refseq.end_5=98999568;refseq.end_6=98999568;refseq.end_7=98999568;refseq.end_8=98999568;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_5=503;refseq.mrnaCoord_6=676;refseq.mrnaCoord_7=716;refseq.mrnaCoord_8=889;refseq.name2_1=ZNF655;refseq.name2_2=ZNF655;refseq.name2_3=ZNF655;refseq.name2_4=ZNF655;refseq.name2_5=ZNF655;refseq.name2_6=ZNF655;refseq.name2_7=ZNF655;refseq.name2_8=ZNF655;refseq.name_1=NM_001083956;refseq.name_2=NM_001085368;refseq.name_3=NM_001009960;refseq.name_4=NM_138494;refseq.name_5=NM_001009958;refseq.name_6=NM_001085366;refseq.name_7=NM_001085367;refseq.name_8=NM_024061;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_5=p.P95S;refseq.proteinCoordStr_6=p.P95S;refseq.proteinCoordStr_7=p.P166S;refseq.proteinCoordStr_8=p.P166S;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_5=CCC;refseq.referenceCodon_6=CCC;refseq.referenceCodon_7=CCC;refseq.referenceCodon_8=CCC;refseq.spliceDist_5=147;refseq.spliceDist_6=147;refseq.spliceDist_7=147;refseq.spliceDist_8=147;refseq.start_1=98996265;refseq.start_2=98996265;refseq.start_3=98996265;refseq.start_4=98996265;refseq.start_5=98999568;refseq.start_6=98999568;refseq.start_7=98999568;refseq.start_8=98999568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;refseq.variantCodon_7=TCC;refseq.variantCodon_8=TCC;set=FilteredInAll GT 0/1 chr7 99144621 . C G 114.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=462;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=90.33;MQ0=1;OQ=22211.49;QD=48.08;RankSumP=1.00000;SB=-8074.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1226G>C;refseq.codonCoord=409;refseq.end=99144621;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_000765;refseq.name2=CYP3A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R409T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-28;refseq.start=99144621;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 99263724 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.50C>A;refseq.codingCoordStr_2=c.50C>A;refseq.codingCoordStr_3=c.50C>A;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.end_1=99263724;refseq.end_2=99263724;refseq.end_3=99263724;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=153;refseq.mrnaCoord_2=153;refseq.mrnaCoord_3=153;refseq.name2_1=CYP3A43;refseq.name2_2=CYP3A43;refseq.name2_3=CYP3A43;refseq.name_1=NM_022820;refseq.name_2=NM_057095;refseq.name_3=NM_057096;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T17N;refseq.proteinCoordStr_2=p.T17N;refseq.proteinCoordStr_3=p.T17N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=99263724;refseq.start_2=99263724;refseq.start_3=99263724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 1/0 chr7 99312363 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=1;HaplotypeScore=15.51;MQ=98.86;MQ0=0;OQ=7211.40;QD=19.18;RankSumP=0.420268;SB=-2865.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.230T>C;refseq.codonCoord=77;refseq.end=99312363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_001005276;refseq.name2=OR2AE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I77T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=230;refseq.start=99312363;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr7 99338835 . T C 167.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=17.66;MQ=98.67;MQ0=0;OQ=10709.91;QD=21.08;RankSumP=0.324461;SB=-4079.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.861A>G;refseq.codingCoordStr_2=c.783A>G;refseq.codonCoord_1=287;refseq.codonCoord_2=261;refseq.end_1=99338835;refseq.end_2=99338835;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=991;refseq.mrnaCoord_2=913;refseq.name2_1=TRIM4;refseq.name2_2=TRIM4;refseq.name_1=NM_033017;refseq.name_2=NM_033091;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V287V;refseq.proteinCoordStr_2=p.V261V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=99338835;refseq.start_2=99338835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr7 99338847 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=1;HaplotypeScore=11.85;MQ=98.74;MQ0=0;OQ=9826.47;QD=20.82;RankSumP=0.399453;SB=-3498.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.849T>C;refseq.codingCoordStr_2=c.771T>C;refseq.codonCoord_1=283;refseq.codonCoord_2=257;refseq.end_1=99338847;refseq.end_2=99338847;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=979;refseq.mrnaCoord_2=901;refseq.name2_1=TRIM4;refseq.name2_2=TRIM4;refseq.name_1=NM_033017;refseq.name_2=NM_033091;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S283S;refseq.proteinCoordStr_2=p.S257S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=99338847;refseq.start_2=99338847;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr7 99407330 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=1;HaplotypeScore=7.62;MQ=98.51;MQ0=0;OQ=11381.50;QD=20.32;RankSumP=0.259929;SB=-4094.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.312C>T;refseq.codonCoord=104;refseq.end=99407330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_001185;refseq.name2=AZGP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I104I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-26;refseq.start=99407330;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr7 99532867 . C T 208.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=5.67;MQ=98.94;MQ0=0;OQ=3074.50;QD=16.99;RankSumP=0.389666;SB=-893.57;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1194G>A;refseq.codingCoordStr_2=c.666G>A;refseq.codonCoord_1=398;refseq.codonCoord_2=222;refseq.end_1=99532867;refseq.end_2=99532867;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1704;refseq.mrnaCoord_2=1783;refseq.name2_1=MCM7;refseq.name2_2=MCM7;refseq.name_1=NM_005916;refseq.name_2=NM_182776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A398A;refseq.proteinCoordStr_2=p.A222A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=99532867;refseq.start_2=99532867;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr7 99534589 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.575A>C;refseq.codingCoordStr_2=c.47A>C;refseq.codonCoord_1=192;refseq.codonCoord_2=16;refseq.end_1=99534589;refseq.end_2=99534589;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1085;refseq.mrnaCoord_2=1164;refseq.name2_1=MCM7;refseq.name2_2=MCM7;refseq.name_1=NM_005916;refseq.name_2=NM_182776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y192S;refseq.proteinCoordStr_2=p.Y16S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=99534589;refseq.start_2=99534589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr7 99534733 . T C 337.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=98.80;MQ0=0;OQ=5848.95;QD=20.10;RankSumP=0.359253;SB=-2493.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.431A>G;refseq.codingCoordStr_2=c.-98A>G;refseq.codonCoord_1=144;refseq.end_1=99534733;refseq.end_2=99534733;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=1020;refseq.name2_1=MCM7;refseq.name2_2=MCM7;refseq.name_1=NM_005916;refseq.name_2=NM_182776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.N144S;refseq.referenceAA_1=Asn;refseq.referenceCodon_1=AAC;refseq.spliceDist_1=30;refseq.spliceDist_2=-152;refseq.start_1=99534733;refseq.start_2=99534733;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantCodon_1=AGC;set=Intersection GT 1/0 chr7 99585066 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=348.98;QD=9.97;RankSumP=0.591149;SB=-60.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=99585066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_001008395;refseq.name2=C7orf59;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=99585066;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr7 99595548 . G A 205.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=98.55;MQ0=0;OQ=1216.93;QD=17.64;RankSumP=0.375895;SB=-292.29;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1400C>T;refseq.codonCoord=467;refseq.end=99595548;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1793;refseq.name=NM_024637;refseq.name2=GAL3ST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A467V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-748;refseq.start=99595548;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr7 99596072 . T G 115.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=6.94;MQ=98.89;MQ0=0;OQ=1738.78;QD=15.66;RankSumP=0.150922;SB=-483.76;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.876A>C;refseq.codonCoord=292;refseq.end=99596072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_024637;refseq.name2=GAL3ST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A292A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=447;refseq.start=99596072;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 99609506 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=1.52274e-07;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.780T>G;refseq.codonCoord=260;refseq.end=99609506;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_152742;refseq.name2=GPC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C260W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=51;refseq.start=99609506;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr7 99618347 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.285A>C;refseq.codonCoord=95;refseq.end=99618347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_012447;refseq.name2=STAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P95P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-52;refseq.start=99618347;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 99633421 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1150A>C;refseq.codonCoord=384;refseq.end=99633421;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_012447;refseq.name2=STAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T384P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=99633421;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 99634082 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=362;Dels=0.00;HRun=3;HaplotypeScore=7.90;MQ=96.70;MQ0=0;OQ=5251.82;QD=14.51;RankSumP=0.000412223;SB=-1817.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1293A>C;refseq.codonCoord=431;refseq.end=99634082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_012447;refseq.name2=STAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P431P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=49;refseq.start=99634082;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 0/1 chr7 99636685 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.2098G>C;refseq.codingCoordStr_4=c.*1526C>G;refseq.codonCoord_3=700;refseq.end_1=99636685;refseq.end_2=99636685;refseq.end_3=99636685;refseq.end_4=99636685;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=3079;refseq.mrnaCoord_2=2391;refseq.mrnaCoord_3=2253;refseq.mrnaCoord_4=2267;refseq.name2_1=GATS;refseq.name2_2=GATS;refseq.name2_3=STAG3;refseq.name2_4=GATS;refseq.name_1=NR_028039;refseq.name_2=NR_028040;refseq.name_3=NM_012447;refseq.name_4=NM_178831;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.proteinCoordStr_3=p.A700P;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-470;refseq.spliceDist_2=-470;refseq.spliceDist_3=-35;refseq.spliceDist_4=-470;refseq.start_1=99636685;refseq.start_2=99636685;refseq.start_3=99636685;refseq.start_4=99636685;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr7 99637781 . T A 134.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=19.17;MQ=98.85;MQ0=0;OQ=11071.60;QD=18.51;RankSumP=0.310609;SB=-4153.43;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.2445T>A;refseq.codingCoordStr_4=c.*430A>T;refseq.codonCoord_3=815;refseq.end_1=99637781;refseq.end_2=99637781;refseq.end_3=99637781;refseq.end_4=99637781;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=1295;refseq.mrnaCoord_3=2600;refseq.mrnaCoord_4=1171;refseq.name2_1=GATS;refseq.name2_2=GATS;refseq.name2_3=STAG3;refseq.name2_4=GATS;refseq.name_1=NR_028039;refseq.name_2=NR_028040;refseq.name_3=NM_012447;refseq.name_4=NM_178831;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.proteinCoordStr_3=p.I815I;refseq.referenceAA_3=Ile;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=382;refseq.spliceDist_2=382;refseq.spliceDist_3=51;refseq.spliceDist_4=382;refseq.start_1=99637781;refseq.start_2=99637781;refseq.start_3=99637781;refseq.start_4=99637781;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_3=Ile;refseq.variantCodon_3=ATA;set=Intersection GT 1/0 chr7 99655795 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=82.83;MQ0=0;OQ=414.22;QD=18.83;RankSumP=0.623005;SB=-173.74;SecondBestBaseQ=32;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_5=c.241A>G;refseq.codonCoord_5=81;refseq.end_1=99658145;refseq.end_2=99659118;refseq.end_3=99658145;refseq.end_4=99658145;refseq.end_5=99655795;refseq.frame_5=0;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_2=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=592;refseq.name2_1=GATS;refseq.name2_2=GATS;refseq.name2_3=GATS;refseq.name2_4=GATS;refseq.name2_5=PVRIG;refseq.name_1=NR_028040;refseq.name_2=NM_178831;refseq.name_3=NR_028038;refseq.name_4=NR_028039;refseq.name_5=NM_024070;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.N81D;refseq.referenceAA_5=Asn;refseq.referenceCodon_5=AAC;refseq.spliceDist_5=123;refseq.start_1=99638173;refseq.start_2=99638173;refseq.start_3=99648703;refseq.start_4=99648703;refseq.start_5=99655795;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=+;refseq.variantAA_5=Asp;refseq.variantCodon_5=GAC;set=Intersection GT 0/1 chr7 99659621 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=57.40;MQ0=0;OQ=1165.96;QD=20.46;RankSumP=0.670795;SB=-167.15;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_4=c.231G>A;refseq.codonCoord_4=77;refseq.end_1=99659621;refseq.end_2=99659621;refseq.end_3=99659621;refseq.end_4=99659621;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=480;refseq.mrnaCoord_3=480;refseq.mrnaCoord_4=480;refseq.name2_1=GATS;refseq.name2_2=GATS;refseq.name2_3=GATS;refseq.name2_4=GATS;refseq.name_1=NR_028038;refseq.name_2=NR_028039;refseq.name_3=NR_028040;refseq.name_4=NM_178831;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.S77S;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.start_1=99659621;refseq.start_2=99659621;refseq.start_3=99659621;refseq.start_4=99659621;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Ser;refseq.variantCodon_4=TCA;set=Intersection GT 0/1 chr7 99809249 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=163;Dels=0.00;HRun=3;HaplotypeScore=11.15;MQ=91.04;MQ0=10;OQ=2230.24;QD=13.68;RankSumP=0.316214;SB=-1025.18;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.34T>C;refseq.codingCoordStr_2=c.34T>C;refseq.codingCoordStr_3=c.34T>C;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.codonCoord_3=12;refseq.end_1=99809249;refseq.end_2=99809249;refseq.end_3=99809249;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=246;refseq.mrnaCoord_2=246;refseq.mrnaCoord_3=246;refseq.name2_1=PILRA;refseq.name2_2=PILRA;refseq.name2_3=PILRA;refseq.name_1=NM_013439;refseq.name_2=NM_178272;refseq.name_3=NM_178273;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L12L;refseq.proteinCoordStr_2=p.L12L;refseq.proteinCoordStr_3=p.L12L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=99809249;refseq.start_2=99809249;refseq.start_3=99809249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr7 99809770 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=71.50;MQ0=19;OQ=763.02;QD=7.55;RankSumP=0.354542;SB=-386.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.232A>G;refseq.codingCoordStr_2=c.232A>G;refseq.codingCoordStr_3=c.232A>G;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.codonCoord_3=78;refseq.end_1=99809770;refseq.end_2=99809770;refseq.end_3=99809770;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=444;refseq.mrnaCoord_2=444;refseq.mrnaCoord_3=444;refseq.name2_1=PILRA;refseq.name2_2=PILRA;refseq.name2_3=PILRA;refseq.name_1=NM_013439;refseq.name_2=NM_178272;refseq.name_3=NM_178273;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R78G;refseq.proteinCoordStr_2=p.R78G;refseq.proteinCoordStr_3=p.R78G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.spliceDist_3=168;refseq.start_1=99809770;refseq.start_2=99809770;refseq.start_3=99809770;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr7 99869099 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2056T>C;refseq.codonCoord=686;refseq.end=99869099;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2169;refseq.name=NM_019606;refseq.name2=MEPCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S686P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=39;refseq.start=99869099;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 99871789 . G T 16.56 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.53;MQ0=0;QD=2.07;SB=-31.94;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.145C>A;refseq.codonCoord=49;refseq.end=99871789;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_145030;refseq.name2=C7orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.R49R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-90;refseq.start=99871789;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:6,2:7:-7.04,-2.11,-15.96:49.30 chr7 99923849 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.569A>C;refseq.codonCoord=190;refseq.end=99923849;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_173564;refseq.name2=C7orf51;refseq.positionType=CDS;refseq.proteinCoordStr=p.N190T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=139;refseq.start=99923849;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 100013409 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=403.63;QD=16.82;RankSumP=0.548297;SB=-108.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1011A>G;refseq.codonCoord=337;refseq.end=100013409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1064;refseq.name=NM_002319;refseq.name2=LRCH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G337G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-29;refseq.start=100013409;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr7 100025565 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.33G>C;refseq.codingCoordStr_2=c.183G>C;refseq.codingCoordStr_3=c.69G>C;refseq.codonCoord_1=11;refseq.codonCoord_2=61;refseq.codonCoord_3=23;refseq.end_1=100025565;refseq.end_2=100025565;refseq.end_3=100025565;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=101;refseq.mrnaCoord_2=251;refseq.mrnaCoord_3=362;refseq.name2_1=FBXO24;refseq.name2_2=FBXO24;refseq.name2_3=FBXO24;refseq.name_1=NM_001163499;refseq.name_2=NM_012172;refseq.name_3=NM_033506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S11S;refseq.proteinCoordStr_2=p.S61S;refseq.proteinCoordStr_3=p.S23S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=100025565;refseq.start_2=100025565;refseq.start_3=100025565;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr7 100025787 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=2.21116e-08;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.157A>C;refseq.codingCoordStr_2=c.307A>C;refseq.codingCoordStr_3=c.193A>C;refseq.codonCoord_1=53;refseq.codonCoord_2=103;refseq.codonCoord_3=65;refseq.end_1=100025787;refseq.end_2=100025787;refseq.end_3=100025787;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=225;refseq.mrnaCoord_2=375;refseq.mrnaCoord_3=486;refseq.name2_1=FBXO24;refseq.name2_2=FBXO24;refseq.name2_3=FBXO24;refseq.name_1=NM_001163499;refseq.name_2=NM_012172;refseq.name_3=NM_033506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T53P;refseq.proteinCoordStr_2=p.T103P;refseq.proteinCoordStr_3=p.T65P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=100025787;refseq.start_2=100025787;refseq.start_3=100025787;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr7 100029987 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.803A>C;refseq.codingCoordStr_2=c.953A>C;refseq.codingCoordStr_3=c.839A>C;refseq.codonCoord_1=268;refseq.codonCoord_2=318;refseq.codonCoord_3=280;refseq.end_1=100029987;refseq.end_2=100029987;refseq.end_3=100029987;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=871;refseq.mrnaCoord_2=1021;refseq.mrnaCoord_3=1132;refseq.name2_1=FBXO24;refseq.name2_2=FBXO24;refseq.name2_3=FBXO24;refseq.name_1=NM_001163499;refseq.name_2=NM_012172;refseq.name_3=NM_033506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D268A;refseq.proteinCoordStr_2=p.D318A;refseq.proteinCoordStr_3=p.D280A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.start_1=100029987;refseq.start_2=100029987;refseq.start_3=100029987;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr7 100039578 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=1.39098e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.265G>C;refseq.codonCoord=89;refseq.end=100039578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_002593;refseq.name2=PCOLCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A89P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=61;refseq.start=100039578;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 100066571 . T C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.504995;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1147A>G;refseq.codonCoord=383;refseq.end=100066571;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1188;refseq.name=NM_003227;refseq.name2=TFR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S383G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=41;refseq.start=100066571;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/0 chr7 100076768 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.53C>A;refseq.codonCoord=18;refseq.end=100076768;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_003227;refseq.name2=TFR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S18Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=20;refseq.start=100076768;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 0/1 chr7 100119704 . T C 194.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=95.22;MQ0=0;OQ=2244.18;QD=31.61;RankSumP=1.00000;SB=-1119.46;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1743A>G;refseq.codonCoord=581;refseq.end=100119704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2752;refseq.name=NM_022574;refseq.name2=GIGYF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P581P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=13;refseq.start=100119704;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr7 100249214 . T C 104.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=2.67;MQ=98.35;MQ0=0;OQ=5447.77;QD=39.48;RankSumP=1.00000;SB=-1971.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1752A>G;refseq.codonCoord=584;refseq.end=100249214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2243;refseq.name=NM_004444;refseq.name2=EPHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G584G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=100249214;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr7 100254186 . A G 223.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.73;MQ0=0;OQ=2267.14;QD=35.99;RankSumP=1.00000;SB=-803.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1314T>C;refseq.codonCoord=438;refseq.end=100254186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1805;refseq.name=NM_004444;refseq.name2=EPHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S438S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=17;refseq.start=100254186;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr7 100258091 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=8.51;MQ=98.10;MQ0=0;OQ=1734.42;QD=12.48;RankSumP=0.227183;SB=-808.16;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=100258091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_004444;refseq.name2=EPHB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G182G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=135;refseq.start=100258091;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr7 100289817 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=1.92678e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.62T>C;refseq.codonCoord=21;refseq.end=100289817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_020246;refseq.name2=SLC12A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L21P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=104;refseq.start=100289817;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 100292618 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.641T>G;refseq.codonCoord=214;refseq.end=100292618;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_020246;refseq.name2=SLC12A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V214G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-117;refseq.start=100292618;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 100296731 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=40.81;MQ=98.29;MQ0=0;OQ=3938.76;QD=14.32;RankSumP=0.490328;SB=-1017.00;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1254T>C;refseq.codonCoord=418;refseq.end=100296731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1396;refseq.name=NM_020246;refseq.name2=SLC12A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A418A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=36;refseq.start=100296731;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 100306220 . A G 331.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=98.49;MQ0=0;OQ=4263.44;QD=19.38;RankSumP=0.0424899;SB=-1128.29;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.918A>G;refseq.codonCoord=306;refseq.end=100306220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_003302;refseq.name2=TRIP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V306V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-82;refseq.start=100306220;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr7 100308290 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1287T>G;refseq.codonCoord=429;refseq.end=100308290;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1457;refseq.name=NM_003302;refseq.name2=TRIP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C429W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-13;refseq.start=100308290;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr7 100319736 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.697T>G;refseq.codingCoordStr_2=c.697T>G;refseq.codingCoordStr_3=c.697T>G;refseq.codingCoordStr_4=c.697T>G;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.codonCoord_4=233;refseq.end_1=100319736;refseq.end_2=100319736;refseq.end_3=100319736;refseq.end_4=100319736;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=964;refseq.mrnaCoord_3=964;refseq.mrnaCoord_4=964;refseq.name2_1=SRRT;refseq.name2_2=SRRT;refseq.name2_3=SRRT;refseq.name2_4=SRRT;refseq.name_1=NM_001128852;refseq.name_2=NM_001128853;refseq.name_3=NM_001128854;refseq.name_4=NM_015908;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F233V;refseq.proteinCoordStr_2=p.F233V;refseq.proteinCoordStr_3=p.F233V;refseq.proteinCoordStr_4=p.F233V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.start_1=100319736;refseq.start_2=100319736;refseq.start_3=100319736;refseq.start_4=100319736;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=FilteredInAll GT 1/0 chr7 100319962 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.97;MQ0=0;OQ=836.77;QD=8.90;RankSumP=0.403293;SB=-411.30;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.795T>C;refseq.codingCoordStr_2=c.795T>C;refseq.codingCoordStr_3=c.795T>C;refseq.codingCoordStr_4=c.795T>C;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.codonCoord_3=265;refseq.codonCoord_4=265;refseq.end_1=100319962;refseq.end_2=100319962;refseq.end_3=100319962;refseq.end_4=100319962;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1062;refseq.mrnaCoord_2=1062;refseq.mrnaCoord_3=1062;refseq.mrnaCoord_4=1062;refseq.name2_1=SRRT;refseq.name2_2=SRRT;refseq.name2_3=SRRT;refseq.name2_4=SRRT;refseq.name_1=NM_001128852;refseq.name_2=NM_001128853;refseq.name_3=NM_001128854;refseq.name_4=NM_015908;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L265L;refseq.proteinCoordStr_2=p.L265L;refseq.proteinCoordStr_3=p.L265L;refseq.proteinCoordStr_4=p.L265L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=CTT;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.spliceDist_4=38;refseq.start_1=100319962;refseq.start_2=100319962;refseq.start_3=100319962;refseq.start_4=100319962;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/0 chr7 100321440 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1397T>G;refseq.codingCoordStr_2=c.1400T>G;refseq.codingCoordStr_3=c.1397T>G;refseq.codingCoordStr_4=c.1400T>G;refseq.codonCoord_1=466;refseq.codonCoord_2=467;refseq.codonCoord_3=466;refseq.codonCoord_4=467;refseq.end_1=100321440;refseq.end_2=100321440;refseq.end_3=100321440;refseq.end_4=100321440;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1664;refseq.mrnaCoord_2=1667;refseq.mrnaCoord_3=1664;refseq.mrnaCoord_4=1667;refseq.name2_1=SRRT;refseq.name2_2=SRRT;refseq.name2_3=SRRT;refseq.name2_4=SRRT;refseq.name_1=NM_001128852;refseq.name_2=NM_001128853;refseq.name_3=NM_001128854;refseq.name_4=NM_015908;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V466G;refseq.proteinCoordStr_2=p.V467G;refseq.proteinCoordStr_3=p.V466G;refseq.proteinCoordStr_4=p.V467G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=100321440;refseq.start_2=100321440;refseq.start_3=100321440;refseq.start_4=100321440;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr7 100324592 . T G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.26;MQ0=0;OQ=1734.72;QD=27.11;RankSumP=1.00000;SB=-620.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.237A>C;refseq.codonCoord=79;refseq.end=100324592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_001015072;refseq.name2=UFSP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V79V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-313;refseq.start=100324592;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr7 100324690 . G C 131.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=1194.53;QD=15.12;RankSumP=0.323045;SB=-571.23;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.139C>G;refseq.codonCoord=47;refseq.end=100324690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_001015072;refseq.name2=UFSP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L47V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-411;refseq.start=100324690;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr7 100462096 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=982;Dels=0.00;HRun=0;HaplotypeScore=33.86;MQ=98.71;MQ0=0;OQ=21581.91;QD=21.98;RankSumP=0.0160016;SB=-9236.12;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.679A>C;refseq.codonCoord=227;refseq.end=100462096;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.K227Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=495;refseq.start=100462096;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr7 100462232 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=697;Dels=0.00;HRun=1;HaplotypeScore=8.32;MQ=98.92;MQ0=0;OQ=14959.69;QD=21.46;RankSumP=0.361625;SB=-6003.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.815G>A;refseq.codonCoord=272;refseq.end=100462232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G272E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=631;refseq.start=100462232;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr7 100462696 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=915;Dels=0.00;HRun=0;HaplotypeScore=34.20;MQ=98.67;MQ0=0;OQ=17509.74;QD=19.14;RankSumP=0.182830;SB=-6482.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1279G>A;refseq.codonCoord=427;refseq.end=100462696;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1332;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A427T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1095;refseq.start=100462696;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr7 100463129 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1242;Dels=0.00;HRun=0;HaplotypeScore=40.91;MQ=98.31;MQ0=0;OQ=25509.46;QD=20.54;RankSumP=0.223389;SB=-10381.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1712C>T;refseq.codonCoord=571;refseq.end=100463129;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1765;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P571L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1528;refseq.start=100463129;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap-filterIngatk GT 0/1 chr7 100463999 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1631;Dels=0.00;HRun=0;HaplotypeScore=30.59;MQ=66.46;MQ0=240;OQ=14153.58;QD=8.68;RankSumP=0.478191;SB=-4169.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2582G>C;refseq.codonCoord=861;refseq.end=100463999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2635;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S861T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=2398;refseq.start=100463999;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr7 100464005 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1635;Dels=0.00;HRun=2;HaplotypeScore=44.10;MQ=68.34;MQ0=237;OQ=14029.39;QD=8.58;RankSumP=0.494853;SB=-4038.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2588G>A;refseq.codonCoord=863;refseq.end=100464005;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2641;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G863E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=2404;refseq.start=100464005;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr7 100464053 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1604;Dels=0.00;HRun=0;HaplotypeScore=39.15;MQ=67.65;MQ0=142;OQ=13006.22;QD=8.11;SB=-4153.17;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2636C>G;refseq.codonCoord=879;refseq.end=100464053;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2689;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T879S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=2452;refseq.start=100464053;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1251,351:1402:-1299.62,-422.18,-5587.82:99 chr7 100464098 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1791;Dels=0.00;HRun=1;HaplotypeScore=56.91;MQ=58.93;MQ0=210;OQ=1561.72;QD=0.87;RankSumP=0.432031;SB=-743.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2681C>A;refseq.codonCoord=894;refseq.end=100464098;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2734;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T894K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=2497;refseq.start=100464098;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/0 chr7 100464125 . G A 2529.61 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=1916;Dels=0.00;HRun=0;HaplotypeScore=497.59;MQ=66.04;MQ0=205;QD=1.32;SB=228.88;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2708G>A;refseq.codonCoord=903;refseq.end=100464125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2761;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R903H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=2524;refseq.start=100464125;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1675,240:1636:-748.97,-492.73,-5614.10:99 chr7 100464129 . G A 2683.29 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=1955;Dels=0.00;HRun=0;HaplotypeScore=522.25;MQ=67.99;MQ0=194;QD=1.37;SB=270.49;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2712G>A;refseq.codonCoord=904;refseq.end=100464129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2765;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S904S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=2528;refseq.start=100464129;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1697,253:1673:-775.47,-503.86,-5747.14:99 chr7 100464135 . T C 12412.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=2003;Dels=0.00;HRun=2;HaplotypeScore=488.86;MQ=69.81;MQ0=175;QD=6.20;RankSumP=0.271533;SB=-3317.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2718T>C;refseq.codonCoord=906;refseq.end=100464135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2771;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P906P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=2534;refseq.start=100464135;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr7 100464175 rs61075804 G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=2213;Dels=0.00;HRun=0;HaplotypeScore=372.89;MQ=84.07;MQ0=157;OQ=27335.83;QD=12.35;SB=-9764.40;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2758G>A;refseq.codonCoord=920;refseq.end=100464175;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2811;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G920R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2574;refseq.start=100464175;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1364,848:1979:-2732.58,-595.90,-5656.02:99 chr7 100464177 rs59155935 G T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=2220;Dels=0.00;HRun=0;HaplotypeScore=371.90;MQ=84.83;MQ0=155;OQ=1378.79;QD=0.62;SB=-596.03;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2760G>T;refseq.codonCoord=920;refseq.end=100464177;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2813;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G920G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2576;refseq.start=100464177;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1872,344:1988:-742.79,-601.63,-7448.72:99 chr7 100464222 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=2023;Dels=0.00;HRun=0;HaplotypeScore=52.39;MQ=90.37;MQ0=27;OQ=22864.43;QD=11.30;RankSumP=0.0367775;SB=-8475.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2805G>A;refseq.codonCoord=935;refseq.end=100464222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2858;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P935P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=2621;refseq.start=100464222;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap-filterIngatk GT 1/0 chr7 100464236 rs58478927 A G 259.60 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1844;Dels=0.00;HRun=2;HaplotypeScore=303.88;MQ=88.08;MQ0=88;QD=0.14;SB=111.78;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2819A>G;refseq.codonCoord=940;refseq.end=100464236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2872;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.E940G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2635;refseq.start=100464236;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1695,148:1675:-533.67,-504.42,-6683.13:99 chr7 100464243 . A C 18514.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1795;Dels=0.00;HRun=0;HaplotypeScore=230.27;MQ=85.34;MQ0=168;QD=10.31;RankSumP=0.334000;SB=-6268.07;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2826A>C;refseq.codonCoord=942;refseq.end=100464243;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2879;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R942S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=2642;refseq.start=100464243;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chr7 100464246 rs59872696 A C 17457.07 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1800;Dels=0.00;HRun=1;HaplotypeScore=242.12;MQ=83.81;MQ0=205;QD=9.70;SB=-5788.21;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2829A>C;refseq.codonCoord=943;refseq.end=100464246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2882;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T943T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=2645;refseq.start=100464246;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1190,607:1456:-1744.71,-438.51,-3832.00:99 chr7 100464276 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1858;Dels=0.00;HRun=2;HaplotypeScore=72.19;MQ=66.25;MQ0=574;OQ=7068.40;QD=3.80;SB=-1041.13;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2859A>C;refseq.codonCoord=953;refseq.end=100464276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2912;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T953T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=2675;refseq.start=100464276;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1345,509:1039:-705.84,-313.01,-3114.76:99 chr7 100464292 rs60940057 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=2005;Dels=0.00;HRun=0;HaplotypeScore=64.59;MQ=59.09;MQ0=628;OQ=2129.75;QD=1.06;SB=-539.71;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2875A>G;refseq.codonCoord=959;refseq.end=100464292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2928;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T959A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=2691;refseq.start=100464292;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1677,316:1135:-558.24,-341.98,-3892.12:99 chr7 100464306 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2038;Dels=0.00;HRun=0;HaplotypeScore=33.33;MQ=52.75;MQ0=630;OQ=3027.29;QD=1.49;RankSumP=0.375443;SB=249.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2889A>G;refseq.codonCoord=963;refseq.end=100464306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2942;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S963S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=2705;refseq.start=100464306;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 0/1 chr7 100464345 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2051;Dels=0.00;HRun=1;HaplotypeScore=313.69;MQ=49.82;MQ0=318;OQ=1176.47;QD=0.57;RankSumP=0.102037;SB=-514.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2928G>A;refseq.codonCoord=976;refseq.end=100464345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2981;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S976S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=2744;refseq.start=100464345;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 1/0 chr7 100464350 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2043;Dels=0.00;HRun=1;HaplotypeScore=268.16;MQ=50.05;MQ0=293;OQ=16904.52;QD=8.27;RankSumP=0.0253775;SB=-4998.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2933C>T;refseq.codonCoord=978;refseq.end=100464350;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2986;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P978L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=2749;refseq.start=100464350;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 0/1 chr7 100464365 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2035;Dels=0.00;HRun=1;HaplotypeScore=36.40;MQ=48.83;MQ0=413;OQ=2604.70;QD=1.28;SB=-154.28;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2948C>A;refseq.codonCoord=983;refseq.end=100464365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3001;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T983N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=2764;refseq.start=100464365;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1773,261:1545:-731.98,-468.22,-5578.14:99 chr7 100464424 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=2325;Dels=0.00;HRun=3;HaplotypeScore=72.89;MQ=51.01;MQ0=341;OQ=17511.27;QD=7.53;RankSumP=0.00367413;SB=-4965.92;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3007C>T;refseq.codonCoord=1003;refseq.end=100464424;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3060;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1003F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=2823;refseq.start=100464424;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr7 100464434 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2381;Dels=0.00;HRun=1;HaplotypeScore=67.80;MQ=51.10;MQ0=251;OQ=18037.26;QD=7.58;SB=-5200.38;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3017C>T;refseq.codonCoord=1006;refseq.end=100464434;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3070;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1006I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=2833;refseq.start=100464434;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1921,456:1936:-1802.73,-583.01,-6070.34:99 chr7 100464536 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=3380;Dels=0.00;HRun=2;HaplotypeScore=99.32;MQ=42.50;MQ0=245;OQ=29616.84;QD=8.76;RankSumP=0.132890;SB=-9725.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3119G>A;refseq.codonCoord=1040;refseq.end=100464536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3172;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1040E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=2935;refseq.start=100464536;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr7 100464664 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=3158;Dels=0.00;HRun=1;HaplotypeScore=72.27;MQ=54.27;MQ0=832;OQ=29986.43;QD=9.50;RankSumP=0.337421;SB=-10757.28;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3247T>C;refseq.codonCoord=1083;refseq.end=100464664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1083P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=3063;refseq.start=100464664;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/0 chr7 100464694 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=3153;Dels=0.00;HRun=0;HaplotypeScore=72.15;MQ=60.45;MQ0=579;OQ=15029.68;QD=4.77;SB=-2280.87;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3277A>G;refseq.codonCoord=1093;refseq.end=100464694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3330;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1093A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3093;refseq.start=100464694;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2700,449:2390:-1501.97,-722.59,-8683.85:99 chr7 100464708 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=3164;Dels=0.00;HRun=0;HaplotypeScore=526.59;MQ=62.61;MQ0=416;OQ=25799.39;QD=8.15;RankSumP=0.372249;SB=-8983.03;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3291T>A;refseq.codonCoord=1097;refseq.end=100464708;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3344;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1097R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=3107;refseq.start=100464708;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 1/0 chr7 100464715 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=3122;Dels=0.00;HRun=1;HaplotypeScore=545.00;MQ=63.80;MQ0=307;OQ=13000.44;QD=4.16;RankSumP=0.185274;SB=-1912.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3298A>G;refseq.codonCoord=1100;refseq.end=100464715;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3351;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1100G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=3114;refseq.start=100464715;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr7 100464733 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=3141;Dels=0.00;HRun=0;HaplotypeScore=94.78;MQ=70.28;MQ0=113;OQ=22757.23;QD=7.25;SB=-6045.83;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3316G>A;refseq.codonCoord=1106;refseq.end=100464733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3369;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1106M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=3132;refseq.start=100464733;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2565,574:2875:-2274.72,-865.68,-9723.85:99 chr7 100464795 . C T 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=2577;Dels=0.00;HRun=1;HaplotypeScore=201.29;MQ=70.52;MQ0=508;OQ=9894.33;QD=3.84;RankSumP=0.245759;SB=-1065.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3378C>T;refseq.codonCoord=1126;refseq.end=100464795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3431;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1126V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=3194;refseq.start=100464795;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 0/1 chr7 100464806 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=2413;Dels=0.00;HRun=0;HaplotypeScore=401.40;MQ=65.22;MQ0=679;OQ=57807.30;QD=23.96;RankSumP=1.00000;SB=-25993.04;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3389T>C;refseq.codonCoord=1130;refseq.end=100464806;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3442;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1130T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=3205;refseq.start=100464806;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/1 chr7 100465092 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1501;Dels=0.00;HRun=1;HaplotypeScore=43.56;MQ=97.39;MQ0=0;OQ=11829.08;QD=7.88;RankSumP=0.248260;SB=-1682.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3675T>G;refseq.codonCoord=1225;refseq.end=100465092;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3728;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1225P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=3491;refseq.start=100465092;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/0 chr7 100465141 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=1545;Dels=0.00;HRun=1;HaplotypeScore=626.37;MQ=96.65;MQ0=2;OQ=26876.56;QD=17.40;RankSumP=0.0995983;SB=-9518.52;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3724T>A;refseq.codonCoord=1242;refseq.end=100465141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3777;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1242T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=3540;refseq.start=100465141;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 1/0 chr7 100465162 rs4729653 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1535;Dels=0.00;HRun=0;HaplotypeScore=48.78;MQ=96.83;MQ0=2;OQ=9623.49;QD=6.27;SB=-1618.61;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3745C>G;refseq.codonCoord=1249;refseq.end=100465162;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3798;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1249A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=3561;refseq.start=100465162;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1332,201:1432:-961.35,-431.30,-5963.93:99 chr7 100465201 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1510;Dels=0.00;HRun=0;HaplotypeScore=38.40;MQ=97.07;MQ0=0;OQ=11113.71;QD=7.36;SB=-2482.03;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3784A>T;refseq.codonCoord=1262;refseq.end=100465201;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3837;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1262S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3600;refseq.start=100465201;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1227,281:1481:-1110.37,-445.98,-4780.91:99 chr7 100465203 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1508;Dels=0.00;HRun=0;HaplotypeScore=32.38;MQ=97.08;MQ0=0;OQ=12351.59;QD=8.19;SB=-2886.74;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3786C>T;refseq.codonCoord=1262;refseq.end=100465203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3839;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1262T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3602;refseq.start=100465203;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1221,285:1478:-1234.16,-448.02,-4632.13:99 chr7 100465247 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1433;Dels=0.00;HRun=1;HaplotypeScore=31.39;MQ=96.62;MQ0=0;OQ=12924.76;QD=9.02;SB=-4200.62;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3830G>T;refseq.codonCoord=1277;refseq.end=100465247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3883;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1277I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=3646;refseq.start=100465247;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1099,331:1405:-1291.48,-423.04,-4412.79:99 chr7 100465280 . C A 18 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1460;Dels=0.00;HRun=1;HaplotypeScore=34.56;MQ=95.87;MQ0=0;OQ=11782.50;QD=8.07;RankSumP=0.139508;SB=-3404.88;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3863C>A;refseq.codonCoord=1288;refseq.end=100465280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3916;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1288K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=3679;refseq.start=100465280;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr7 100465288 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1437;Dels=0.00;HRun=0;HaplotypeScore=45.38;MQ=95.70;MQ0=0;OQ=11321.04;QD=7.88;SB=-3190.69;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3871A>T;refseq.codonCoord=1291;refseq.end=100465288;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3924;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1291S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3687;refseq.start=100465288;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1142,290:1402:-1131.10,-424.44,-4452.81:99 chr7 100465330 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1243;Dels=0.00;HRun=0;HaplotypeScore=53.46;MQ=94.70;MQ0=0;OQ=10649.50;QD=8.57;SB=-3414.91;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3913A>T;refseq.codonCoord=1305;refseq.end=100465330;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3966;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1305S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=3729;refseq.start=100465330;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:963,279:1200:-1063.95,-361.36,-3711.15:99 chr7 100465336 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1241;Dels=0.00;HRun=3;HaplotypeScore=53.12;MQ=94.38;MQ0=0;OQ=11695.83;QD=9.42;SB=-3763.00;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3919G>A;refseq.codonCoord=1307;refseq.end=100465336;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3972;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1307S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=3735;refseq.start=100465336;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:953,285:1188:-1168.58,-357.72,-3792.22:99 chr7 100465342 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1206;Dels=0.00;HRun=0;HaplotypeScore=37.07;MQ=93.38;MQ0=0;OQ=11926.07;QD=9.89;SB=-4045.88;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3925G>A;refseq.codonCoord=1309;refseq.end=100465342;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3978;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1309M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=3741;refseq.start=100465342;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:900,305:1159:-1191.61,-349.00,-3607.90:99 chr7 100465413 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1215;Dels=0.00;HRun=0;HaplotypeScore=21.66;MQ=81.54;MQ0=130;OQ=2709.91;QD=2.23;RankSumP=0.216354;SB=-27.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3996T>C;refseq.codonCoord=1332;refseq.end=100465413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4049;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1332Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=3812;refseq.start=100465413;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 1/0 chr7 100465444 . C A 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.414797;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4027C>A;refseq.codonCoord=1343;refseq.end=100465444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4080;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1343T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=3843;refseq.start=100465444;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 1/0 chr7 100465460 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1011;Dels=0.00;HRun=1;HaplotypeScore=24.53;MQ=90.72;MQ0=13;OQ=19295.54;QD=19.09;RankSumP=0.202564;SB=-7065.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4043T>C;refseq.codonCoord=1348;refseq.end=100465460;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4096;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1348P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=3859;refseq.start=100465460;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr7 100465540 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1107;Dels=0.00;HRun=2;HaplotypeScore=25.19;MQ=61.23;MQ0=205;OQ=10269.95;QD=9.28;RankSumP=0.190657;SB=-2980.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4123T>C;refseq.codonCoord=1375;refseq.end=100465540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4176;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1375R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=3939;refseq.start=100465540;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr7 100465638 . G A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1392;Dels=0.00;HRun=0;HaplotypeScore=24.44;MQ=68.54;MQ0=9;OQ=1157.02;QD=0.83;SB=-122.62;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.4221G>A;refseq.codonCoord=1407;refseq.end=100465638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4274;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1407P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=4037;refseq.start=100465638;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1248,142:1315:-518.92,-399.93,-4657.84:99 chr7 100465697 . G T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=1291;Dels=0.00;HRun=0;HaplotypeScore=68.92;MQ=85.28;MQ0=36;OQ=760.47;QD=0.59;RankSumP=0.00544667;SB=-246.78;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4280G>T;refseq.codonCoord=1427;refseq.end=100465697;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4333;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1427V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=4096;refseq.start=100465697;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr7 100465856 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=874;Dels=0.00;HRun=0;HaplotypeScore=44.20;MQ=68.72;MQ0=319;OQ=9884.35;QD=11.31;RankSumP=0.0632563;SB=-2904.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4439T>C;refseq.codonCoord=1480;refseq.end=100465856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4492;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1480A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=4255;refseq.start=100465856;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr7 100465960 . G C 0.67 PASS AC=1;AF=0.50;AN=2;DP=1057;Dels=0.00;HRun=1;HaplotypeScore=9.40;MQ=57.19;MQ0=112;OQ=7179.26;QD=6.79;SB=-1302.73;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4543G>C;refseq.codonCoord=1515;refseq.end=100465960;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4596;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1515P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=4359;refseq.start=100465960;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=gatk GT:AD:DP:GL:GQ 0/1:902,155:908:-716.93,-273.42,-3747.21:99 chr7 100465974 . A G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1085;Dels=0.00;HRun=0;HaplotypeScore=29.05;MQ=61.20;MQ0=102;OQ=7140.03;QD=6.58;SB=-1566.95;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4557A>G;refseq.codonCoord=1519;refseq.end=100465974;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4610;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1519M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=4373;refseq.start=100465974;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:896,177:924:-713.00,-278.32,-3067.54:99 chr7 100466016 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1374;Dels=0.00;HRun=0;HaplotypeScore=56.22;MQ=79.67;MQ0=34;OQ=15382.18;QD=11.20;SB=-5157.21;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.4599C>T;refseq.codonCoord=1533;refseq.end=100466016;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4652;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1533S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=4415;refseq.start=100466016;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:981,393:1266:-1537.22,-381.24,-3664.52:99 chr7 100466036 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1430;Dels=0.00;HRun=0;HaplotypeScore=106.81;MQ=79.30;MQ0=33;OQ=12205.91;QD=8.54;SB=-3278.98;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4619T>A;refseq.codonCoord=1540;refseq.end=100466036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4672;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1540D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=4435;refseq.start=100466036;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1053,358:1252:-1219.59,-377.07,-3618.86:99 chr7 100466038 . A C -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1446;Dels=0.00;HRun=2;HaplotypeScore=119.37;MQ=79.00;MQ0=35;OQ=11997.70;QD=8.30;SB=-3725.06;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4621A>C;refseq.codonCoord=1541;refseq.end=100466038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4674;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1541P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=4437;refseq.start=100466038;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1087,356:1252:-1198.77,-377.06,-3583.84:99 chr7 100466086 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1497;Dels=0.00;HRun=0;HaplotypeScore=53.14;MQ=72.60;MQ0=96;OQ=24953.23;QD=16.67;RankSumP=0.189794;SB=-9256.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4669A>G;refseq.codonCoord=1557;refseq.end=100466086;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4722;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1557A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=4485;refseq.start=100466086;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 0/1 chr7 100466472 . T C 9883.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=908;Dels=0.00;HRun=0;HaplotypeScore=157.36;MQ=72.41;MQ0=77;QD=10.89;RankSumP=0.362419;SB=-3488.78;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5055T>C;refseq.codonCoord=1685;refseq.end=100466472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5108;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1685Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=4871;refseq.start=100466472;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 1/0 chr7 100466474 . C G 12252.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=893;Dels=0.00;HRun=0;HaplotypeScore=167.87;MQ=74.26;MQ0=67;QD=13.72;RankSumP=0.361438;SB=-3945.98;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5057C>G;refseq.codonCoord=1686;refseq.end=100466474;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5110;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1686S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=4873;refseq.start=100466474;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chr7 100466480 . G A 1499.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=845;Dels=0.00;HRun=2;HaplotypeScore=148.70;MQ=78.04;MQ0=67;QD=1.77;RankSumP=0.338473;SB=412.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5063G>A;refseq.codonCoord=1688;refseq.end=100466480;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5116;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1688E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=4879;refseq.start=100466480;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 1/0 chr7 100466529 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=745;Dels=0.00;HRun=1;HaplotypeScore=19.39;MQ=91.33;MQ0=0;OQ=15764.90;QD=21.16;RankSumP=0.00200693;SB=-5809.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5112C>T;refseq.codonCoord=1704;refseq.end=100466529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5165;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1704S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=4928;refseq.start=100466529;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 0/1 chr7 100466622 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1158;Dels=0.00;HRun=2;HaplotypeScore=16.52;MQ=61.32;MQ0=25;OQ=22821.14;QD=19.71;RankSumP=0.360828;SB=-8790.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5205A>G;refseq.codonCoord=1735;refseq.end=100466622;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5258;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1735E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=5021;refseq.start=100466622;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 0/1 chr7 100466781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0309913;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5364G>A;refseq.codonCoord=1788;refseq.end=100466781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5417;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1788S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=5180;refseq.start=100466781;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr7 100466820 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1504;Dels=0.00;HRun=1;HaplotypeScore=38.45;MQ=54.88;MQ0=192;OQ=3185.32;QD=2.12;SB=-1470.95;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5403G>A;refseq.codonCoord=1801;refseq.end=100466820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5456;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1801S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=5219;refseq.start=100466820;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1227,276:1267:-703.37,-381.56,-4323.25:99 chr7 100466825 . T C 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.228011;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5408T>C;refseq.codonCoord=1803;refseq.end=100466825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5461;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1803P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=5224;refseq.start=100466825;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 1/0 chr7 100466837 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1387;Dels=0.00;HRun=0;HaplotypeScore=93.77;MQ=52.18;MQ0=230;OQ=704.29;QD=0.51;SB=-275.84;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5420T>C;refseq.codonCoord=1807;refseq.end=100466837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5473;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1807T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=5236;refseq.start=100466837;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1118,266:1109:-407.70,-333.98,-4276.59:99 chr7 100466840 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1386;Dels=0.00;HRun=1;HaplotypeScore=106.88;MQ=51.30;MQ0=261;OQ=873.49;QD=0.63;SB=-169.47;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.5423C>A;refseq.codonCoord=1808;refseq.end=100466840;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5476;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1808N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=5239;refseq.start=100466840;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1169,217:1082:-416.41,-325.78,-4011.80:99 chr7 100467090 . C T 0.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1184;Dels=0.00;HRun=0;HaplotypeScore=26.10;MQ=84.00;MQ0=46;OQ=23456.90;QD=19.81;RankSumP=0.00000;SB=-8427.68;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5673C>T;refseq.codonCoord=1891;refseq.end=100467090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5726;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1891P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=5489;refseq.start=100467090;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 0/1 chr7 100467659 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=690;Dels=0.00;HRun=0;HaplotypeScore=17.19;MQ=93.38;MQ0=10;OQ=11601.19;QD=16.81;RankSumP=0.0231591;SB=-4222.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6242C>A;refseq.codonCoord=2081;refseq.end=100467659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6295;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2081D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=6058;refseq.start=100467659;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr7 100467703 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=844;Dels=0.00;HRun=1;HaplotypeScore=12.16;MQ=74.82;MQ0=23;OQ=15961.33;QD=18.91;RankSumP=0.485950;SB=-4662.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6286G>A;refseq.codonCoord=2096;refseq.end=100467703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6339;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2096T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=6102;refseq.start=100467703;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr7 100467892 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=985;Dels=0.00;HRun=1;HaplotypeScore=17.63;MQ=88.61;MQ0=3;OQ=17930.16;QD=18.20;RankSumP=0.491169;SB=-7268.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6475A>G;refseq.codonCoord=2159;refseq.end=100467892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6528;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2159G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-5929;refseq.start=100467892;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr7 100467986 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0296275;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6569C>A;refseq.codonCoord=2190;refseq.end=100467986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6622;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2190K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5835;refseq.start=100467986;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr7 100468013 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.155497;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6596G>A;refseq.codonCoord=2199;refseq.end=100468013;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6649;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2199H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-5808;refseq.start=100468013;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr7 100468023 . T C -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1956;Dels=0.00;HRun=2;HaplotypeScore=445.39;MQ=66.67;MQ0=343;OQ=581.60;QD=0.30;SB=-260.80;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.6606T>C;refseq.codonCoord=2202;refseq.end=100468023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6659;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2202P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-5798;refseq.start=100468023;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1757,199:1531:-522.51,-461.06,-6031.11:99 chr7 100468065 . T G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0419472;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6648T>G;refseq.codonCoord=2216;refseq.end=100468065;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6701;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2216R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-5756;refseq.start=100468065;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chr7 100468079 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1752;Dels=0.00;HRun=0;HaplotypeScore=30.33;MQ=89.09;MQ0=77;OQ=68808.17;QD=39.27;RankSumP=0.431970;SB=-30988.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6662C>G;refseq.codonCoord=2221;refseq.end=100468079;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6715;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2221R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-5742;refseq.start=100468079;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap-filterIngatk GT 1/0 chr7 100468083 . C A 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.398329;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.6666C>A;refseq.codonCoord=2222;refseq.end=100468083;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6719;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.F2222L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-5738;refseq.start=100468083;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap GT 1/0 chr7 100468230 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.452505;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.6813T>C;refseq.codonCoord=2271;refseq.end=100468230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6866;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2271T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-5591;refseq.start=100468230;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr7 100468482 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=1036;Dels=0.00;HRun=0;HaplotypeScore=24.23;MQ=68.99;MQ0=38;OQ=35805.56;QD=34.56;RankSumP=1.00000;SB=-16827.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.7065A>G;refseq.codonCoord=2355;refseq.end=100468482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7118;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2355T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5339;refseq.start=100468482;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/1 chr7 100468637 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1845;Dels=0.00;HRun=0;HaplotypeScore=56.43;MQ=77.32;MQ0=43;OQ=693.88;QD=0.38;SB=382.72;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.7220T>C;refseq.codonCoord=2407;refseq.end=100468637;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7273;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.M2407T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-5184;refseq.start=100468637;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1676,161:1770:-605.72,-533.05,-6852.74:99 chr7 100468995 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1322;Dels=0.00;HRun=1;HaplotypeScore=31.22;MQ=59.12;MQ0=307;OQ=10381.58;QD=7.85;RankSumP=0.106957;SB=-1744.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.7578A>G;refseq.codonCoord=2526;refseq.end=100468995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7631;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2526P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-4826;refseq.start=100468995;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 0/1 chr7 100469563 rs34924040 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1520;Dels=0.00;HRun=0;HaplotypeScore=49.85;MQ=92.43;MQ0=4;OQ=1162.11;QD=0.76;SB=854.42;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.8146C>G;refseq.codonCoord=2716;refseq.end=100469563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8199;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2716A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-4258;refseq.start=100469563;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1388,127:1423:-555.41,-435.92,-6445.79:99 chr7 100469756 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=1440;Dels=0.00;HRun=0;HaplotypeScore=45.76;MQ=95.60;MQ0=18;OQ=9245.15;QD=6.42;RankSumP=0.00141634;SB=-301.32;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.8339T>C;refseq.codonCoord=2780;refseq.end=100469756;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8392;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2780T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-4065;refseq.start=100469756;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr7 100469773 . A G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1361;Dels=0.00;HRun=0;HaplotypeScore=44.10;MQ=95.92;MQ0=18;OQ=1484.05;QD=1.09;RankSumP=8.76256e-05;SB=832.81;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.8356A>G;refseq.codonCoord=2786;refseq.end=100469773;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8409;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2786A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-4048;refseq.start=100469773;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr7 100471218 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1702;Dels=0.00;HRun=0;HaplotypeScore=31.81;MQ=55.88;MQ0=204;OQ=1446.70;QD=0.85;SB=519.87;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.9801A>C;refseq.codonCoord=3267;refseq.end=100471218;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9854;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3267D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-2603;refseq.start=100471218;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1545,155:1409:-572.20,-424.25,-5116.79:99 chr7 100471270 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1802;Dels=0.00;HRun=1;HaplotypeScore=75.38;MQ=61.17;MQ0=187;OQ=24418.94;QD=13.55;RankSumP=0.106067;SB=-9292.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.9853A>G;refseq.codonCoord=3285;refseq.end=100471270;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9906;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3285G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-2551;refseq.start=100471270;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 0/1 chr7 100471293 . G A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1661;Dels=0.00;HRun=0;HaplotypeScore=83.68;MQ=65.53;MQ0=65;OQ=1167.94;QD=0.70;RankSumP=0.276695;SB=272.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.9876G>A;refseq.codonCoord=3292;refseq.end=100471293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9929;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3292T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-2528;refseq.start=100471293;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/0 chr7 100471313 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1479;Dels=0.00;HRun=1;HaplotypeScore=103.85;MQ=72.34;MQ0=18;OQ=26004.70;QD=17.58;RankSumP=0.0799712;SB=-10914.35;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.9896G>A;refseq.codonCoord=3299;refseq.end=100471313;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9949;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3299N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-2508;refseq.start=100471313;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/0 chr7 100472287 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.10870A>C;refseq.codonCoord=3624;refseq.end=100472287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10923;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3624P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1534;refseq.start=100472287;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 100481858 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=169;Dels=0.00;HRun=0;HaplotypeScore=14.85;MQ=98.73;MQ0=0;OQ=1632.94;QD=9.66;RankSumP=0.0429023;SB=-817.29;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.12998G>A;refseq.codonCoord=4333;refseq.end=100481858;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13051;refseq.name=NM_001040105;refseq.name2=MUC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4333Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=55;refseq.start=100481858;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr7 100518191 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.333333;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.878C>G;refseq.codonCoord=293;refseq.end=100518191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_030961;refseq.name2=TRIM56;refseq.positionType=CDS;refseq.proteinCoordStr=p.A293G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=879;refseq.start=100518191;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 100518225 . C G 45.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=15.33;RankSumP=0.500000;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.912C>G;refseq.codonCoord=304;refseq.end=100518225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_030961;refseq.name2=TRIM56;refseq.positionType=CDS;refseq.proteinCoordStr=p.A304A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=913;refseq.start=100518225;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 1/0 chr7 100518549 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.08;MQ0=0;OQ=486.96;QD=13.91;RankSumP=0.672827;SB=-259.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1236T>C;refseq.codonCoord=412;refseq.end=100518549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1467;refseq.name=NM_030961;refseq.name2=TRIM56;refseq.positionType=CDS;refseq.proteinCoordStr=p.A412A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1237;refseq.start=100518549;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 100519041 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=29.98;MQ=98.46;MQ0=0;OQ=5600.46;QD=14.86;RankSumP=0.0219055;SB=-1821.88;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1728C>T;refseq.codonCoord=576;refseq.end=100519041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_030961;refseq.name2=TRIM56;refseq.positionType=CDS;refseq.proteinCoordStr=p.N576N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1569;refseq.start=100519041;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr7 100558437 . G A 230.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=16.19;MQ=98.86;MQ0=0;OQ=5924.92;QD=21.86;RankSumP=0.0188733;SB=-2226.83;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.43G>A;refseq.codingCoordStr_2=c.43G>A;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=100558437;refseq.end_2=100558437;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=191;refseq.mrnaCoord_2=191;refseq.name2_1=SERPINE1;refseq.name2_2=SERPINE1;refseq.name_1=NM_000602;refseq.name_2=NM_001165413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A15T;refseq.proteinCoordStr_2=p.A15T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=100558437;refseq.start_2=100558437;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr7 100561930 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.77406e-08;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.560T>G;refseq.codingCoordStr_2=c.515T>G;refseq.codonCoord_1=187;refseq.codonCoord_2=172;refseq.end_1=100561930;refseq.end_2=100561930;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=708;refseq.mrnaCoord_2=663;refseq.name2_1=SERPINE1;refseq.name2_2=SERPINE1;refseq.name_1=NM_000602;refseq.name_2=NM_001165413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V187G;refseq.proteinCoordStr_2=p.V172G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=100561930;refseq.start_2=100561930;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 100593168 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=64;Dels=0.00;HRun=1;HaplotypeScore=17.68;MQ=96.09;MQ0=0;OQ=710.42;QD=11.10;RankSumP=0.0852042;SB=-145.56;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1677G>C;refseq.codonCoord=559;refseq.end=100593168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1895;refseq.name=NM_003378;refseq.name2=VGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S559S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-659;refseq.start=100593168;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr7 100593457 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1388A>C;refseq.codonCoord=463;refseq.end=100593457;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1606;refseq.name=NM_003378;refseq.name2=VGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H463P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-948;refseq.start=100593457;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 100645944 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=2.62093e-05;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.580T>A;refseq.codonCoord=194;refseq.end=100645944;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_001084;refseq.name2=PLOD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F194I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-36;refseq.start=100645944;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr7 100662492 . T G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=6.06;MQ=97.93;MQ0=0;OQ=4394.77;QD=34.07;RankSumP=1.00000;SB=-883.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.606A>C;refseq.codonCoord=202;refseq.end=100662492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_014343;refseq.name2=CLDN15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P202P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=25;refseq.start=100662492;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr7 101043553 . T C 167.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=21.14;MQ=98.85;MQ0=0;OQ=7954.73;QD=18.37;RankSumP=0.158184;SB=-2749.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=101043553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_138403;refseq.name2=MYL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=21;refseq.start=101043553;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr7 101623869 . G A 182.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.70;MQ0=0;OQ=3213.82;QD=15.60;RankSumP=0.0582538;SB=-1048.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1137G>A;refseq.codingCoordStr_2=c.1131G>A;refseq.codingCoordStr_3=c.1104G>A;refseq.codonCoord_1=379;refseq.codonCoord_2=377;refseq.codonCoord_3=368;refseq.end_1=101623869;refseq.end_2=101623869;refseq.end_3=101623869;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1156;refseq.mrnaCoord_2=1139;refseq.mrnaCoord_3=1142;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name2_3=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.name_3=NM_181552;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P379P;refseq.proteinCoordStr_2=p.P377P;refseq.proteinCoordStr_3=p.P368P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=101623869;refseq.start_2=101623869;refseq.start_3=101623869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/0 chr7 101631571 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=97.14;MQ0=0;OQ=561.93;QD=8.26;RankSumP=0.165012;SB=-172.57;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_3=c.2274A>G;refseq.codonCoord_3=758;refseq.end_1=101703346;refseq.end_2=101703346;refseq.end_3=101631571;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=2312;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name2_3=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.name_3=NM_181552;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P758P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCA;refseq.spliceDist_3=212;refseq.start_1=101625614;refseq.start_2=101625614;refseq.start_3=101631571;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr7 101678922 . G A 13.47 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;QD=0.79;SB=-16.57;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_3=c.4398G>A;refseq.codonCoord_3=1466;refseq.end_1=101703346;refseq.end_2=101703346;refseq.end_3=101678922;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=4436;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name2_3=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.name_3=NM_181552;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A1466A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_3=511;refseq.start_1=101625614;refseq.start_2=101625614;refseq.start_3=101678922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:14,2:14:-8.83,-4.22,-41.23:46.11 chr7 101703367 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=97.02;MQ0=0;OQ=1960.37;QD=29.26;RankSumP=1.00000;SB=-533.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1266A>G;refseq.codingCoordStr_2=c.1260A>G;refseq.codonCoord_1=422;refseq.codonCoord_2=420;refseq.end_1=101703367;refseq.end_2=101703367;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1285;refseq.mrnaCoord_2=1268;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A422A;refseq.proteinCoordStr_2=p.A420A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=101703367;refseq.start_2=101703367;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr7 101703401 . A C 63 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.63363e-05;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1300A>C;refseq.codingCoordStr_2=c.1294A>C;refseq.codonCoord_1=434;refseq.codonCoord_2=432;refseq.end_1=101703401;refseq.end_2=101703401;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1302;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T434P;refseq.proteinCoordStr_2=p.T432P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=101703401;refseq.start_2=101703401;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr7 101704241 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.40;MQ0=0;OQ=1178.20;QD=12.02;RankSumP=0.232633;SB=-445.89;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1390G>A;refseq.codingCoordStr_2=c.1384G>A;refseq.codonCoord_1=464;refseq.codonCoord_2=462;refseq.end_1=101704241;refseq.end_2=101704241;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1409;refseq.mrnaCoord_2=1392;refseq.name2_1=CUX1;refseq.name2_2=CUX1;refseq.name_1=NM_001913;refseq.name_2=NM_181500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A464T;refseq.proteinCoordStr_2=p.A462T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=101704241;refseq.start_2=101704241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr7 101885015 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=97.66;MQ0=0;OQ=364.04;QD=15.17;RankSumP=0.302456;SB=-149.60;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.740C>T;refseq.codonCoord=247;refseq.end=101885015;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_017621;refseq.name2=ALKBH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A247V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=419;refseq.start=101885015;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr7 101895537 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=46;Dels=0.00;HRun=0;HaplotypeScore=6.86;MQ=94.81;MQ0=0;OQ=463.91;QD=10.08;RankSumP=0.228400;SB=-213.92;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.702G>A;refseq.codonCoord=234;refseq.end=101895537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_152892;refseq.name2=LRWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R234R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=24;refseq.start=101895537;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr7 101899985 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=96.65;MQ0=0;OQ=178.61;QD=10.51;RankSumP=0.701951;SB=-77.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1614G>A;refseq.codonCoord=538;refseq.end=101899985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1752;refseq.name=NM_152892;refseq.name2=LRWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T538T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-77;refseq.start=101899985;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 101903683 rs11557255 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=2687;Dels=0.00;HRun=0;HaplotypeScore=55.68;MQ=2.82;MQ0=2675;OQ=103.91;QD=0.04;SB=-6.99;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.93T>C;refseq.codonCoord=31;refseq.end=101903683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_006234;refseq.name2=POLR2J;refseq.positionType=CDS;refseq.proteinCoordStr=p.C31C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=40;refseq.start=101903683;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2364,318:10:-16.69,-3.01,-27.09:99 chr7 102094803 . A C,G 42 PASS AC=1,0;AF=0.50,0.00;AN=2;BestBaseQ=33;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=86.14;MQ=2.64;MQ0=485;OQ=72.16;QD=0.15;RankSumP=0.351681;SB=-6.99;SecondBestBaseQ=34;set=soap-filterIngatk GT 0/1 chr7 102096654 . C A 2 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=602;Dels=0.00;HRun=0;HaplotypeScore=15.58;MQ=6.43;MQ0=567;OQ=673.25;QD=1.12;RankSumP=1.00000;SB=-180.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.84G>T;refseq.codonCoord=28;refseq.end=102096654;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_032959;refseq.name2=POLR2J2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K28N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=34;refseq.start=102096654;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/1 chr7 102099255 . G C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.243798;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.30C>G;refseq.codonCoord=10;refseq.end=102099255;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_032959;refseq.name2=POLR2J2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F10L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-21;refseq.start=102099255;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr7 102249872 . T C 357.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=99.00;MQ0=0;OQ=5239.25;QD=19.19;RankSumP=0.329721;SB=-1610.49;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1734A>G;refseq.codingCoordStr_2=c.1869A>G;refseq.codonCoord_1=578;refseq.codonCoord_2=623;refseq.end_1=102249872;refseq.end_2=102249872;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1984;refseq.mrnaCoord_2=2296;refseq.name2_1=FBXL13;refseq.name2_2=FBXL13;refseq.name_1=NM_001111038;refseq.name_2=NM_145032;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A578A;refseq.proteinCoordStr_2=p.A623A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=102249872;refseq.start_2=102249872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr7 102362236 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.640G>A;refseq.codingCoordStr_4=c.640G>A;refseq.codonCoord_3=214;refseq.codonCoord_4=214;refseq.end_1=102391205;refseq.end_2=102391205;refseq.end_3=102362236;refseq.end_4=102362236;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1029;refseq.mrnaCoord_4=1029;refseq.name2_1=FBXL13;refseq.name2_2=FBXL13;refseq.name2_3=LRRC17;refseq.name2_4=LRRC17;refseq.name_1=NM_001111038;refseq.name_2=NM_145032;refseq.name_3=NM_001031692;refseq.name_4=NM_005824;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E214K;refseq.proteinCoordStr_4=p.E214K;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_3=-133;refseq.spliceDist_4=-133;refseq.start_1=102359627;refseq.start_2=102359627;refseq.start_3=102362236;refseq.start_4=102362236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 1/0 chr7 102362238 . A T 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_3=c.642A>T;refseq.codingCoordStr_4=c.642A>T;refseq.codonCoord_3=214;refseq.codonCoord_4=214;refseq.end_1=102391205;refseq.end_2=102391205;refseq.end_3=102362238;refseq.end_4=102362238;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1031;refseq.mrnaCoord_4=1031;refseq.name2_1=FBXL13;refseq.name2_2=FBXL13;refseq.name2_3=LRRC17;refseq.name2_4=LRRC17;refseq.name_1=NM_001111038;refseq.name_2=NM_145032;refseq.name_3=NM_001031692;refseq.name_4=NM_005824;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E214D;refseq.proteinCoordStr_4=p.E214D;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_3=-131;refseq.spliceDist_4=-131;refseq.start_1=102359627;refseq.start_2=102359627;refseq.start_3=102362238;refseq.start_4=102362238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=soap GT 0/1 chr7 102455237 . A C 283.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.56;MQ0=0;OQ=4544.91;QD=39.18;RankSumP=1.00000;SB=-778.28;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.222T>G;refseq.codingCoordStr_2=c.222T>G;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=102455237;refseq.end_2=102455237;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=472;refseq.mrnaCoord_2=649;refseq.name2_1=FBXL13;refseq.name2_2=FBXL13;refseq.name_1=NM_001111038;refseq.name_2=NM_145032;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I74M;refseq.proteinCoordStr_2=p.I74M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=102455237;refseq.start_2=102455237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr7 102526098 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=1;HaplotypeScore=7.16;MQ=25.46;MQ0=226;OQ=1112.07;QD=3.30;RankSumP=0.715759;SB=-531.92;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_1=c.789T>C;refseq.codingCoordStr_2=c.717T>C;refseq.codingCoordStr_3=c.717T>C;refseq.codingCoordStr_4=c.612T>C;refseq.codingCoordStr_5=c.540T>C;refseq.codingCoordStr_6=c.894T>C;refseq.codonCoord_1=263;refseq.codonCoord_2=239;refseq.codonCoord_3=239;refseq.codonCoord_4=204;refseq.codonCoord_5=180;refseq.codonCoord_6=298;refseq.end_1=102526098;refseq.end_2=102526098;refseq.end_3=102526098;refseq.end_4=102526098;refseq.end_5=102526098;refseq.end_6=102526098;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1181;refseq.mrnaCoord_2=1109;refseq.mrnaCoord_3=1109;refseq.mrnaCoord_4=1004;refseq.mrnaCoord_5=932;refseq.mrnaCoord_6=1286;refseq.name2_1=ARMC10;refseq.name2_2=ARMC10;refseq.name2_3=ARMC10;refseq.name2_4=ARMC10;refseq.name2_5=ARMC10;refseq.name2_6=ARMC10;refseq.name_1=NM_001161009;refseq.name_2=NM_001161010;refseq.name_3=NM_001161011;refseq.name_4=NM_001161012;refseq.name_5=NM_001161013;refseq.name_6=NM_031905;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A263A;refseq.proteinCoordStr_2=p.A239A;refseq.proteinCoordStr_3=p.A239A;refseq.proteinCoordStr_4=p.A204A;refseq.proteinCoordStr_5=p.A180A;refseq.proteinCoordStr_6=p.A298A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_1=117;refseq.spliceDist_2=117;refseq.spliceDist_3=117;refseq.spliceDist_4=117;refseq.spliceDist_5=117;refseq.spliceDist_6=117;refseq.start_1=102526098;refseq.start_2=102526098;refseq.start_3=102526098;refseq.start_4=102526098;refseq.start_5=102526098;refseq.start_6=102526098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;set=Intersection GT 1/0 chr7 102531129 . C T 327.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=96.03;MQ0=0;OQ=8136.65;QD=41.51;RankSumP=1.00000;SB=-3315.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1165G>A;refseq.codingCoordStr_2=c.1165G>A;refseq.codonCoord_1=389;refseq.codonCoord_2=389;refseq.end_1=102531129;refseq.end_2=102531129;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1493;refseq.mrnaCoord_2=1493;refseq.name2_1=NAPEPLD;refseq.name2_2=NAPEPLD;refseq.name_1=NM_001122838;refseq.name_2=NM_198990;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D389N;refseq.proteinCoordStr_2=p.D389N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=109;refseq.spliceDist_2=-23;refseq.start_1=102531129;refseq.start_2=102531129;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr7 102795185 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=80.89;MQ0=41;OQ=7715.64;QD=27.65;RankSumP=1.00000;SB=-2387.51;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_4=c.934A>C;refseq.codonCoord_4=312;refseq.end_1=102804480;refseq.end_2=102816680;refseq.end_3=102825604;refseq.end_4=102795185;refseq.frame_4=0;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1004;refseq.name2_1=SLC26A5;refseq.name2_2=SLC26A5;refseq.name2_3=SLC26A5;refseq.name2_4=PSMC2;refseq.name_1=NM_206883;refseq.name_2=NM_206884;refseq.name_3=NM_206885;refseq.name_4=NM_002803;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R312R;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=AGA;refseq.spliceDist_4=90;refseq.start_1=102780620;refseq.start_2=102780620;refseq.start_3=102780620;refseq.start_4=102795185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGA;set=Intersection GT 1/1 chr7 102795614 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_4=c.1179T>G;refseq.codonCoord_4=393;refseq.end_1=102804480;refseq.end_2=102816680;refseq.end_3=102825604;refseq.end_4=102795614;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1249;refseq.name2_1=SLC26A5;refseq.name2_2=SLC26A5;refseq.name2_3=SLC26A5;refseq.name2_4=PSMC2;refseq.name_1=NM_206883;refseq.name_2=NM_206884;refseq.name_3=NM_206885;refseq.name_4=NM_002803;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G393G;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGT;refseq.spliceDist_4=35;refseq.start_1=102780620;refseq.start_2=102780620;refseq.start_3=102780620;refseq.start_4=102795614;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr7 102802103 . A G 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.53651e-07;SecondBestBaseQ=12;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_4=c.2118T>C;refseq.codingCoordStr_5=c.2214T>C;refseq.codonCoord_4=706;refseq.codonCoord_5=738;refseq.end_1=102804480;refseq.end_2=102816680;refseq.end_3=102825604;refseq.end_4=102802103;refseq.end_5=102802103;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=2380;refseq.mrnaCoord_5=2476;refseq.name2_1=SLC26A5;refseq.name2_2=SLC26A5;refseq.name2_3=SLC26A5;refseq.name2_4=SLC26A5;refseq.name2_5=SLC26A5;refseq.name_1=NM_206883;refseq.name_2=NM_206884;refseq.name_3=NM_206885;refseq.name_4=NM_001167962;refseq.name_5=NM_198999;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.T706T;refseq.proteinCoordStr_5=p.T738T;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.spliceDist_4=173;refseq.spliceDist_5=173;refseq.start_1=102780620;refseq.start_2=102780620;refseq.start_3=102780620;refseq.start_4=102802103;refseq.start_5=102802103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=FilteredInAll GT 0/1 chr7 102913978 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.9885T>G;refseq.codingCoordStr_2=c.9885T>G;refseq.codonCoord_1=3295;refseq.codonCoord_2=3295;refseq.end_1=102913978;refseq.end_2=102913978;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=10045;refseq.mrnaCoord_2=10045;refseq.name2_1=RELN;refseq.name2_2=RELN;refseq.name_1=NM_005045;refseq.name_2=NM_173054;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C3295W;refseq.proteinCoordStr_2=p.C3295W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.start_1=102913978;refseq.start_2=102913978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr7 102994343 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4688A>C;refseq.codingCoordStr_2=c.4688A>C;refseq.codonCoord_1=1563;refseq.codonCoord_2=1563;refseq.end_1=102994343;refseq.end_2=102994343;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4848;refseq.mrnaCoord_2=4848;refseq.name2_1=RELN;refseq.name2_2=RELN;refseq.name_1=NM_005045;refseq.name_2=NM_173054;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1563A;refseq.proteinCoordStr_2=p.D1563A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=102994343;refseq.start_2=102994343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr7 104539957 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4518T>C;refseq.codingCoordStr_2=c.4518T>C;refseq.codonCoord_1=1506;refseq.codonCoord_2=1506;refseq.end_1=104539957;refseq.end_2=104539957;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4904;refseq.mrnaCoord_2=5052;refseq.name2_1=MLL5;refseq.name2_2=MLL5;refseq.name_1=NM_018682;refseq.name_2=NM_182931;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1506L;refseq.proteinCoordStr_2=p.L1506L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=450;refseq.spliceDist_2=450;refseq.start_1=104539957;refseq.start_2=104539957;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr7 104964277 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=628;Dels=0.00;HRun=0;HaplotypeScore=11.04;MQ=98.88;MQ0=0;OQ=12279.11;QD=19.55;RankSumP=0.204811;SB=-4877.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.118A>T;refseq.codonCoord=40;refseq.end=104964277;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_021930;refseq.name2=RINT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S40C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=30;refseq.start=104964277;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr7 104979293 . T C 109.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=98.69;MQ0=0;OQ=4438.60;QD=16.20;RankSumP=0.412289;SB=-1767.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1374T>C;refseq.codonCoord=458;refseq.end=104979293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_021930;refseq.name2=RINT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A458A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=41;refseq.start=104979293;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 105189086 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.415C>A;refseq.codonCoord_2=139;refseq.end_1=105216275;refseq.end_2=105189086;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=442;refseq.name2_1=ATXN7L1;refseq.name2_2=ATXN7L1;refseq.name_1=NM_020725;refseq.name_2=NM_152749;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q139K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=60;refseq.start_1=105092982;refseq.start_2=105189086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr7 105691140 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=72.17;MQ0=21;OQ=1705.47;QD=8.93;RankSumP=0.420435;SB=-867.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.903A>G;refseq.codonCoord=301;refseq.end=105691140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1211;refseq.name=NM_005746;refseq.name2=NAMPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S301S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-67;refseq.start=105691140;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr7 106296214 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=23.10;MQ=97.46;MQ0=0;OQ=1975.23;QD=9.93;RankSumP=0.339098;SB=-974.85;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.972A>G;refseq.codonCoord=324;refseq.end=106296214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_002649;refseq.name2=PIK3CG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P324P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=984;refseq.start=106296214;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr7 106296223 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=23.05;MQ=97.64;MQ0=0;OQ=1227.91;QD=6.60;RankSumP=0.202028;SB=-488.58;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.981T>C;refseq.codonCoord=327;refseq.end=106296223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1291;refseq.name=NM_002649;refseq.name2=PIK3CG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D327D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=993;refseq.start=106296223;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr7 106472684 . G T 43.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=289.32;QD=18.08;RankSumP=1.00000;SB=-130.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.96G>T;refseq.codonCoord=32;refseq.end=106472684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_002736;refseq.name2=PRKAR2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-212;refseq.start=106472684;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 106623571 . G C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.15097e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1124G>C;refseq.codonCoord=375;refseq.end=106623571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1310;refseq.name=NM_012257;refseq.name2=HBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R375P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=57;refseq.start=106623571;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 106676103 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=20.22;MQ=98.69;MQ0=0;OQ=8516.57;QD=18.88;RankSumP=0.410670;SB=-2910.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1920C>T;refseq.codingCoordStr_2=c.1920C>T;refseq.codingCoordStr_3=c.1857C>T;refseq.codonCoord_1=640;refseq.codonCoord_2=640;refseq.codonCoord_3=619;refseq.end_1=106676103;refseq.end_2=106676103;refseq.end_3=106676103;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2445;refseq.mrnaCoord_2=2445;refseq.mrnaCoord_3=2382;refseq.name2_1=COG5;refseq.name2_2=COG5;refseq.name2_3=COG5;refseq.name_1=NM_001161520;refseq.name_2=NM_006348;refseq.name_3=NM_181733;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I640I;refseq.proteinCoordStr_2=p.I640I;refseq.proteinCoordStr_3=p.I619I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=106676103;refseq.start_2=106676103;refseq.start_3=106676103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr7 107041366 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_3=c.722G>A;refseq.codonCoord_3=241;refseq.end_1=107045998;refseq.end_2=107045998;refseq.end_3=107041366;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=736;refseq.name2_1=BCAP29;refseq.name2_2=BCAP29;refseq.name2_3=BCAP29;refseq.name_1=NM_018844;refseq.name_2=NR_027830;refseq.name_3=NM_001008405;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R241K;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=AGA;refseq.spliceDist_3=32;refseq.start_1=107041124;refseq.start_2=107041124;refseq.start_3=107041366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAA;set=FilteredInAll GT 1/0 chr7 107201655 . A G 285.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=9906.39;QD=38.25;RankSumP=1.00000;SB=-2856.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1953T>C;refseq.codonCoord=651;refseq.end=107201655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2164;refseq.name=NM_000111;refseq.name2=SLC26A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L651L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-55;refseq.start=107201655;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr7 107201758 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1850A>C;refseq.codonCoord=617;refseq.end=107201758;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2061;refseq.name=NM_000111;refseq.name2=SLC26A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D617A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=77;refseq.start=107201758;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr7 107210490 . C T 193.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=1921.03;QD=15.37;RankSumP=0.283717;SB=-657.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1299G>A;refseq.codonCoord=433;refseq.end=107210490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_000111;refseq.name2=SLC26A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A433A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-13;refseq.start=107210490;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr7 107214529 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.950T>G;refseq.codonCoord=317;refseq.end=107214529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_000111;refseq.name2=SLC26A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V317G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-22;refseq.start=107214529;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr7 107219561 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.332T>C;refseq.codonCoord=111;refseq.end=107219561;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_000111;refseq.name2=SLC26A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F111S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-51;refseq.start=107219561;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr7 107345044 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1137T>G;refseq.codonCoord=379;refseq.end=107345044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1247;refseq.name=NM_000108;refseq.name2=DLD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G379G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=91;refseq.start=107345044;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 107356753 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1161;Dels=0.00;HRun=0;HaplotypeScore=15.99;MQ=98.83;MQ0=0;OQ=23476.21;QD=20.22;RankSumP=0.312692;SB=-8572.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.4879T>C;refseq.codonCoord=1627;refseq.end=107356753;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5214;refseq.name=NM_002291;refseq.name2=LAMB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1627L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=107356753;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr7 107381225 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=349;Dels=0.00;HRun=1;HaplotypeScore=12.70;MQ=98.75;MQ0=0;OQ=5428.53;QD=15.55;RankSumP=0.358372;SB=-552.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3065A>G;refseq.codonCoord=1022;refseq.end=107381225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3400;refseq.name=NM_002291;refseq.name2=LAMB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1022R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-15;refseq.start=107381225;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr7 107490471 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3266G>T;refseq.codonCoord=1089;refseq.end=107490471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3350;refseq.name=NM_007356;refseq.name2=LAMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1089I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-17;refseq.start=107490471;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr7 107526118 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=98.06;MQ0=0;OQ=1807.43;QD=13.29;RankSumP=0.439510;SB=-565.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1326C>T;refseq.codonCoord=442;refseq.end=107526118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1410;refseq.name=NM_007356;refseq.name2=LAMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y442Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-35;refseq.start=107526118;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr7 107526184 . G A 296.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=97.70;MQ0=0;OQ=1788.21;QD=16.71;RankSumP=0.493863;SB=-905.85;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1260C>T;refseq.codonCoord=420;refseq.end=107526184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_007356;refseq.name2=LAMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A420A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=80;refseq.start=107526184;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr7 107530900 . A G 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=129.47;QD=10.79;RankSumP=0.534632;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1005T>C;refseq.codonCoord=335;refseq.end=107530900;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_007356;refseq.name2=LAMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N335N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=14;refseq.start=107530900;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr7 107539566 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.254A>C;refseq.codonCoord=85;refseq.end=107539566;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_007356;refseq.name2=LAMB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N85T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=62;refseq.start=107539566;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 107612125 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=12.62;MQ=98.56;MQ0=0;OQ=6505.42;QD=22.20;RankSumP=0.103904;SB=-1813.59;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2205G>C;refseq.codingCoordStr_2=c.2157G>C;refseq.codonCoord_1=735;refseq.codonCoord_2=719;refseq.end_1=107612125;refseq.end_2=107612125;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2676;refseq.mrnaCoord_2=2628;refseq.name2_1=NRCAM;refseq.name2_2=NRCAM;refseq.name_1=NM_001037132;refseq.name_2=NM_005010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A735A;refseq.proteinCoordStr_2=p.A719A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=107612125;refseq.start_2=107612125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr7 107621849 . G C 129.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=13.43;MQ=98.57;MQ0=0;OQ=12007.06;QD=24.21;RankSumP=0.244641;SB=-4163.37;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1633C>G;refseq.codingCoordStr_2=c.1615C>G;refseq.codonCoord_1=545;refseq.codonCoord_2=539;refseq.end_1=107621849;refseq.end_2=107621849;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2104;refseq.mrnaCoord_2=2086;refseq.name2_1=NRCAM;refseq.name2_2=NRCAM;refseq.name_1=NM_001037132;refseq.name_2=NM_005010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P545A;refseq.proteinCoordStr_2=p.P539A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=107621849;refseq.start_2=107621849;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr7 107621970 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=626;Dels=0.00;HRun=2;HaplotypeScore=14.43;MQ=98.93;MQ0=0;OQ=13312.40;QD=21.27;RankSumP=0.264614;SB=-4879.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1602G>A;refseq.codingCoordStr_2=c.1584G>A;refseq.codonCoord_1=534;refseq.codonCoord_2=528;refseq.end_1=107621970;refseq.end_2=107621970;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2073;refseq.mrnaCoord_2=2055;refseq.name2_1=NRCAM;refseq.name2_2=NRCAM;refseq.name_1=NM_001037132;refseq.name_2=NM_005010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A534A;refseq.proteinCoordStr_2=p.A528A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=107621970;refseq.start_2=107621970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr7 107625700 . G T 254.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.84;MQ0=0;OQ=1779.05;QD=15.21;RankSumP=0.398917;SB=-776.20;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1287C>A;refseq.codingCoordStr_2=c.1269C>A;refseq.codonCoord_1=429;refseq.codonCoord_2=423;refseq.end_1=107625700;refseq.end_2=107625700;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1758;refseq.mrnaCoord_2=1740;refseq.name2_1=NRCAM;refseq.name2_2=NRCAM;refseq.name_1=NM_001037132;refseq.name_2=NM_005010;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V429V;refseq.proteinCoordStr_2=p.V423V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=107625700;refseq.start_2=107625700;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr7 107942739 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.433T>G;refseq.codonCoord=145;refseq.end=107942739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_015723;refseq.name2=PNPLA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L145V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=516;refseq.start=107942739;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr7 107999589 . G A 371.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=1933.94;QD=41.15;RankSumP=1.00000;SB=-711.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=107999589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_012328;refseq.name2=DNAJB9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-35;refseq.start=107999589;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr7 111768239 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1086C>G;refseq.codonCoord=362;refseq.end=111768239;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_021994;refseq.name2=ZNF277;refseq.positionType=CDS;refseq.proteinCoordStr=p.C362W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=77;refseq.start=111768239;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr7 112211886 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.98;MQ0=0;OQ=636.92;QD=16.33;RankSumP=0.151569;SB=-302.25;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=112211886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_022484;refseq.name2=TMEM168;refseq.positionType=CDS;refseq.proteinCoordStr=p.I77I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=359;refseq.start=112211886;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr7 112511653 . A G 164.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.94;MQ0=0;OQ=13916.62;QD=40.81;RankSumP=1.00000;SB=-6703.05;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.360T>C;refseq.codingCoordStr_2=c.360T>C;refseq.codingCoordStr_3=c.360T>C;refseq.codingCoordStr_4=c.360T>C;refseq.codonCoord_1=120;refseq.codonCoord_2=120;refseq.codonCoord_3=120;refseq.codonCoord_4=120;refseq.end_1=112511653;refseq.end_2=112511653;refseq.end_3=112511653;refseq.end_4=112511653;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=987;refseq.mrnaCoord_2=877;refseq.mrnaCoord_3=814;refseq.mrnaCoord_4=984;refseq.name2_1=GPR85;refseq.name2_2=GPR85;refseq.name2_3=GPR85;refseq.name2_4=GPR85;refseq.name_1=NM_001146265;refseq.name_2=NM_001146266;refseq.name_3=NM_001146267;refseq.name_4=NM_018970;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y120Y;refseq.proteinCoordStr_2=p.Y120Y;refseq.proteinCoordStr_3=p.Y120Y;refseq.proteinCoordStr_4=p.Y120Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=530;refseq.spliceDist_2=530;refseq.spliceDist_3=530;refseq.spliceDist_4=530;refseq.start_1=112511653;refseq.start_2=112511653;refseq.start_3=112511653;refseq.start_4=112511653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 1/1 chr7 112511761 . A G 228.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=13050.70;QD=41.70;RankSumP=1.00000;SB=-6353.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.252T>C;refseq.codingCoordStr_2=c.252T>C;refseq.codingCoordStr_3=c.252T>C;refseq.codingCoordStr_4=c.252T>C;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.codonCoord_4=84;refseq.end_1=112511761;refseq.end_2=112511761;refseq.end_3=112511761;refseq.end_4=112511761;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=879;refseq.mrnaCoord_2=769;refseq.mrnaCoord_3=706;refseq.mrnaCoord_4=876;refseq.name2_1=GPR85;refseq.name2_2=GPR85;refseq.name2_3=GPR85;refseq.name2_4=GPR85;refseq.name_1=NM_001146265;refseq.name_2=NM_001146266;refseq.name_3=NM_001146267;refseq.name_4=NM_018970;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G84G;refseq.proteinCoordStr_2=p.G84G;refseq.proteinCoordStr_3=p.G84G;refseq.proteinCoordStr_4=p.G84G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=422;refseq.spliceDist_2=422;refseq.spliceDist_3=422;refseq.spliceDist_4=422;refseq.start_1=112511761;refseq.start_2=112511761;refseq.start_3=112511761;refseq.start_4=112511761;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=Intersection GT 1/1 chr7 113305738 . A T 361.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=98.67;MQ0=0;OQ=8661.75;QD=39.92;RankSumP=1.00000;SB=-4176.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2645T>A;refseq.codonCoord=882;refseq.end=113305738;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_002711;refseq.name2=PPP1R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L882H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-1621;refseq.start=113305738;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr7 113306955 . A T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=5;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=7779.63;QD=40.31;RankSumP=1.00000;SB=-3473.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1428T>A;refseq.codonCoord=476;refseq.end=113306955;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1459;refseq.name=NM_002711;refseq.name2=PPP1R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N476K;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=462;refseq.start=113306955;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr7 113307032 . C T 112.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=1;HaplotypeScore=10.67;MQ=98.95;MQ0=0;OQ=19462.97;QD=41.86;RankSumP=1.00000;SB=-6368.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1351G>A;refseq.codonCoord=451;refseq.end=113307032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1382;refseq.name=NM_002711;refseq.name2=PPP1R3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V451M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=385;refseq.start=113307032;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr7 114085483 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_2=c.1390A>C;refseq.codingCoordStr_3=c.1393A>C;refseq.codingCoordStr_4=c.1468A>C;refseq.codingCoordStr_5=c.1117A>C;refseq.codingCoordStr_6=c.1444A>C;refseq.codonCoord_2=464;refseq.codonCoord_3=465;refseq.codonCoord_4=490;refseq.codonCoord_5=373;refseq.codonCoord_6=482;refseq.end_1=114086636;refseq.end_2=114085483;refseq.end_3=114085483;refseq.end_4=114085483;refseq.end_5=114085483;refseq.end_6=114085483;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=1764;refseq.mrnaCoord_3=1767;refseq.mrnaCoord_4=1842;refseq.mrnaCoord_5=1825;refseq.mrnaCoord_6=1818;refseq.name2_1=FOXP2;refseq.name2_2=FOXP2;refseq.name2_3=FOXP2;refseq.name2_4=FOXP2;refseq.name2_5=FOXP2;refseq.name2_6=FOXP2;refseq.name_1=NM_001172777;refseq.name_2=NM_001172766;refseq.name_3=NM_014491;refseq.name_4=NM_148898;refseq.name_5=NM_148899;refseq.name_6=NM_148900;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.T464P;refseq.proteinCoordStr_3=p.T465P;refseq.proteinCoordStr_4=p.T490P;refseq.proteinCoordStr_5=p.T373P;refseq.proteinCoordStr_6=p.T482P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.spliceDist_4=-76;refseq.spliceDist_5=-76;refseq.spliceDist_6=-76;refseq.start_1=114081311;refseq.start_2=114085483;refseq.start_3=114085483;refseq.start_4=114085483;refseq.start_5=114085483;refseq.start_6=114085483;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 0/1 chr7 114406834 . C A 268.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.31;MQ0=0;OQ=1342.32;QD=35.32;RankSumP=1.00000;SB=-169.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.255C>A;refseq.codingCoordStr_2=c.582C>A;refseq.codonCoord_1=85;refseq.codonCoord_2=194;refseq.end_1=114406834;refseq.end_2=114406834;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=845;refseq.mrnaCoord_2=845;refseq.name2_1=MDFIC;refseq.name2_2=MDFIC;refseq.name_1=NM_001166345;refseq.name_2=NM_199072;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A85A;refseq.proteinCoordStr_2=p.A194A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=114406834;refseq.start_2=114406834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr7 115933310 . C G 116.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=1;HaplotypeScore=4.97;MQ=98.83;MQ0=0;OQ=8984.17;QD=25.31;RankSumP=0.432953;SB=-2269.05;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.388C>G;refseq.codingCoordStr_2=c.200C>G;refseq.codonCoord_1=130;refseq.codonCoord_2=67;refseq.end_1=115933310;refseq.end_2=115933310;refseq.frame_1=0;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=780;refseq.mrnaCoord_2=592;refseq.name2_1=CAV2;refseq.name2_2=CAV2;refseq.name_1=NM_001233;refseq.name_2=NM_198212;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q130E;refseq.proteinCoordStr_2=p.A67G;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=115933310;refseq.start_2=115933310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Gly;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr7 116168235 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1621T>G;refseq.codingCoordStr_2=c.1621T>G;refseq.codonCoord_1=541;refseq.codonCoord_2=541;refseq.end_1=116168235;refseq.end_2=116168235;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1808;refseq.mrnaCoord_2=1808;refseq.name2_1=MET;refseq.name2_2=MET;refseq.name_1=NM_000245;refseq.name_2=NM_001127500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C541G;refseq.proteinCoordStr_2=p.C541G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=116168235;refseq.start_2=116168235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr7 116184808 . A G 257.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.72;MQ0=0;OQ=2599.66;QD=17.45;RankSumP=0.175201;SB=-893.62;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1944A>G;refseq.codingCoordStr_2=c.1944A>G;refseq.codonCoord_1=648;refseq.codonCoord_2=648;refseq.end_1=116184808;refseq.end_2=116184808;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2131;refseq.mrnaCoord_2=2131;refseq.name2_1=MET;refseq.name2_2=MET;refseq.name_1=NM_000245;refseq.name_2=NM_001127500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q648Q;refseq.proteinCoordStr_2=p.Q648Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=116184808;refseq.start_2=116184808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr7 116184975 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2013T>G;refseq.codingCoordStr_2=c.2013T>G;refseq.codonCoord_1=671;refseq.codonCoord_2=671;refseq.end_1=116184975;refseq.end_2=116184975;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2200;refseq.mrnaCoord_2=2200;refseq.name2_1=MET;refseq.name2_2=MET;refseq.name_1=NM_000245;refseq.name_2=NM_001127500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G671G;refseq.proteinCoordStr_2=p.G671G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=116184975;refseq.start_2=116184975;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 116315476 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=4;HaplotypeScore=1.27;MQ=98.90;MQ0=0;OQ=5574.72;QD=20.57;RankSumP=0.494241;SB=-1843.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.99C>T;refseq.codonCoord=33;refseq.end=116315476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_006136;refseq.name2=CAPZA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F33F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=116315476;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr7 116724900 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.853+2;refseq.end_1=116724900;refseq.end_2=116724900;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=false;refseq.name2_1=WNT2;refseq.name2_2=WNT2;refseq.name_1=NR_024047;refseq.name_2=NM_003391;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=116724900;refseq.start_2=116724900;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr7 116854709 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.42A>G;refseq.codonCoord_2=14;refseq.end_1=116854709;refseq.end_2=116854709;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=105;refseq.mrnaCoord_2=105;refseq.name2_1=ASZ1;refseq.name2_2=ASZ1;refseq.name_1=NR_023315;refseq.name_2=NM_130768;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G14G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=116854709;refseq.start_2=116854709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 116854712 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.39C>G;refseq.codonCoord_2=13;refseq.end_1=116854712;refseq.end_2=116854712;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=102;refseq.mrnaCoord_2=102;refseq.name2_1=ASZ1;refseq.name2_2=ASZ1;refseq.name_1=NR_023315;refseq.name_2=NM_130768;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G13G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=116854712;refseq.start_2=116854712;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr7 116975962 . A C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00273897;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1241A>C;refseq.codonCoord=414;refseq.end=116975962;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1373;refseq.name=NM_000492;refseq.name2=CFTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q414P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=32;refseq.start=116975962;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr7 116975972 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.346641;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1251C>A;refseq.codonCoord=417;refseq.end=116975972;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_000492;refseq.name2=CFTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N417K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=42;refseq.start=116975972;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr7 116975986 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.280524;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1265C>T;refseq.codonCoord=422;refseq.end=116975986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1397;refseq.name=NM_000492;refseq.name2=CFTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S422F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=56;refseq.start=116975986;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr7 116976033 . A G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.718183;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1312A>G;refseq.codonCoord=438;refseq.end=116976033;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_000492;refseq.name2=CFTR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T438A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-81;refseq.start=116976033;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr7 120216035 . C A 265.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=5841.29;QD=21.09;RankSumP=0.470552;SB=-1408.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.765G>T;refseq.codonCoord=255;refseq.end=120216035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_012338;refseq.name2=TSPAN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=153;refseq.start=120216035;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr7 120402047 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1170C>G;refseq.codonCoord=390;refseq.end=120402047;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1304;refseq.name=NM_019071;refseq.name2=ING3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C390W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=30;refseq.start=120402047;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr7 120527339 . G T 299.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.45;MQ0=0;OQ=4835.25;QD=16.79;RankSumP=0.239862;SB=-1981.29;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.873G>T;refseq.codingCoordStr_2=c.873G>T;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.end_1=120527339;refseq.end_2=120527339;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1104;refseq.mrnaCoord_2=1320;refseq.name2_1=C7orf58;refseq.name2_2=C7orf58;refseq.name_1=NM_001105533;refseq.name_2=NM_024913;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T291T;refseq.proteinCoordStr_2=p.T291T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=120527339;refseq.start_2=120527339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr7 120551713 . G C 152.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=98.75;MQ0=0;OQ=2925.15;QD=17.95;RankSumP=0.272986;SB=-601.29;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1011G>C;refseq.codingCoordStr_2=c.1011G>C;refseq.codonCoord_1=337;refseq.codonCoord_2=337;refseq.end_1=120551713;refseq.end_2=120551713;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1242;refseq.mrnaCoord_2=1458;refseq.name2_1=C7orf58;refseq.name2_2=C7orf58;refseq.name_1=NM_001105533;refseq.name_2=NM_024913;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A337A;refseq.proteinCoordStr_2=p.A337A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=120551713;refseq.start_2=120551713;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr7 120563333 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.21;MQ0=0;OQ=1026.31;QD=17.11;RankSumP=0.599417;SB=-125.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1652C>G;refseq.codingCoordStr_2=c.1652C>G;refseq.codonCoord_1=551;refseq.codonCoord_2=551;refseq.end_1=120563333;refseq.end_2=120563333;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1883;refseq.mrnaCoord_2=2099;refseq.name2_1=C7orf58;refseq.name2_2=C7orf58;refseq.name_1=NM_001105533;refseq.name_2=NM_024913;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A551G;refseq.proteinCoordStr_2=p.A551G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=120563333;refseq.start_2=120563333;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr7 120757005 . G A 104.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=96.37;MQ0=0;OQ=532.49;QD=12.99;RankSumP=0.694382;SB=-259.51;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.214G>A;refseq.codingCoordStr_2=c.244G>A;refseq.codonCoord_1=72;refseq.codonCoord_2=82;refseq.end_1=120757005;refseq.end_2=120757005;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=501;refseq.name2_1=WNT16;refseq.name2_2=WNT16;refseq.name_1=NM_016087;refseq.name_2=NM_057168;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G72R;refseq.proteinCoordStr_2=p.G82R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=120757005;refseq.start_2=120757005;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr7 120766325 . C T 151.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.72;MQ0=0;OQ=1796.81;QD=13.12;RankSumP=0.0699473;SB=-907.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.758C>T;refseq.codingCoordStr_2=c.788C>T;refseq.codonCoord_1=253;refseq.codonCoord_2=263;refseq.end_1=120766325;refseq.end_2=120766325;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=1045;refseq.name2_1=WNT16;refseq.name2_2=WNT16;refseq.name_1=NM_016087;refseq.name_2=NM_057168;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T253I;refseq.proteinCoordStr_2=p.T263I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=155;refseq.spliceDist_2=155;refseq.start_1=120766325;refseq.start_2=120766325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr7 121355502 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.115T>G;refseq.codonCoord=39;refseq.end=121355502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_002851;refseq.name2=PTPRZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S39A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=121355502;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr7 121403486 . G A 402.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.49;MQ0=0;OQ=8503.01;QD=43.61;RankSumP=1.00000;SB=-3133.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.480G>A;refseq.codonCoord=160;refseq.end=121403486;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_002851;refseq.name2=PTPRZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A160A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=24;refseq.start=121403486;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr7 121438931 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2595T>G;refseq.codonCoord=865;refseq.end=121438931;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2990;refseq.name=NM_002851;refseq.name2=PTPRZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G865G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1308;refseq.start=121438931;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 122422260 . C T 332.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=12.25;MQ=98.81;MQ0=0;OQ=7592.49;QD=20.69;RankSumP=0.0392892;SB=-2468.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.665G>A;refseq.codonCoord=222;refseq.end=122422260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_016945;refseq.name2=TAS2R16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R222H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-266;refseq.start=122422260;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr7 122596470 . T C 245 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.88;MQ0=0;OQ=3000.35;QD=14.93;RankSumP=0.294849;SB=-1107.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.521A>G;refseq.codonCoord=174;refseq.end=122596470;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_022444;refseq.name2=SLC13A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N174S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-33;refseq.start=122596470;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr7 122884704 . T C 206.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=4218.28;QD=39.80;RankSumP=1.00000;SB=-1292.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2160A>G;refseq.codonCoord=720;refseq.end=122884704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2337;refseq.name=NM_178827;refseq.name2=IQUB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A720A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-34;refseq.start=122884704;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr7 122907226 . T C 276.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.52;MQ0=0;OQ=10327.19;QD=41.64;RankSumP=1.00000;SB=-4724.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1269A>G;refseq.codonCoord=423;refseq.end=122907226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_178827;refseq.name2=IQUB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q423Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=35;refseq.start=122907226;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr7 122939255 . C T 300.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5780.41;QD=42.50;RankSumP=1.00000;SB=-1929.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.376G>A;refseq.codonCoord=126;refseq.end=122939255;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_178827;refseq.name2=IQUB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V126M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-22;refseq.start=122939255;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr7 122939271 . T C 434.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6343.55;QD=39.90;RankSumP=1.00000;SB=-2002.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.360A>G;refseq.codonCoord=120;refseq.end=122939271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_178827;refseq.name2=IQUB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E120E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-38;refseq.start=122939271;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr7 123043663 . C T 202.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=3.87;MQ=98.83;MQ0=0;OQ=5626.92;QD=22.87;RankSumP=0.418597;SB=-2234.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.170C>T;refseq.codonCoord=57;refseq.end=123043663;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_080928;refseq.name2=ASB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P57L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=123043663;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr7 123304158 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1159T>G;refseq.codonCoord=387;refseq.end=123304158;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1797;refseq.name=NM_012269;refseq.name2=HYAL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C387G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=115;refseq.start=123304158;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr7 123380869 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.73;MQ0=0;OQ=1436.40;QD=15.96;RankSumP=0.447698;SB=-261.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.9G>A;refseq.codingCoordStr_2=c.9G>A;refseq.codingCoordStr_3=c.9G>A;refseq.codingCoordStr_4=c.9G>A;refseq.codingCoordStr_5=c.9G>A;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.codonCoord_4=3;refseq.codonCoord_5=3;refseq.end_1=123380869;refseq.end_2=123380869;refseq.end_3=123380869;refseq.end_4=123380869;refseq.end_5=123380869;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=627;refseq.mrnaCoord_2=622;refseq.mrnaCoord_3=537;refseq.mrnaCoord_4=448;refseq.mrnaCoord_5=448;refseq.name2_1=SPAM1;refseq.name2_2=SPAM1;refseq.name2_3=SPAM1;refseq.name2_4=SPAM1;refseq.name2_5=SPAM1;refseq.name_1=NM_001174044;refseq.name_2=NM_001174045;refseq.name_3=NM_001174046;refseq.name_4=NM_003117;refseq.name_5=NM_153189;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V3V;refseq.proteinCoordStr_2=p.V3V;refseq.proteinCoordStr_3=p.V3V;refseq.proteinCoordStr_4=p.V3V;refseq.proteinCoordStr_5=p.V3V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=215;refseq.spliceDist_2=215;refseq.spliceDist_3=215;refseq.spliceDist_4=215;refseq.spliceDist_5=215;refseq.start_1=123380869;refseq.start_2=123380869;refseq.start_3=123380869;refseq.start_4=123380869;refseq.start_5=123380869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;set=Intersection GT 1/0 chr7 123381000 . T C 190.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.97;MQ0=0;OQ=1901.50;QD=19.81;RankSumP=0.0579459;SB=-845.38;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.140T>C;refseq.codingCoordStr_2=c.140T>C;refseq.codingCoordStr_3=c.140T>C;refseq.codingCoordStr_4=c.140T>C;refseq.codingCoordStr_5=c.140T>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.codonCoord_3=47;refseq.codonCoord_4=47;refseq.codonCoord_5=47;refseq.end_1=123381000;refseq.end_2=123381000;refseq.end_3=123381000;refseq.end_4=123381000;refseq.end_5=123381000;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=758;refseq.mrnaCoord_2=753;refseq.mrnaCoord_3=668;refseq.mrnaCoord_4=579;refseq.mrnaCoord_5=579;refseq.name2_1=SPAM1;refseq.name2_2=SPAM1;refseq.name2_3=SPAM1;refseq.name2_4=SPAM1;refseq.name2_5=SPAM1;refseq.name_1=NM_001174044;refseq.name_2=NM_001174045;refseq.name_3=NM_001174046;refseq.name_4=NM_003117;refseq.name_5=NM_153189;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V47A;refseq.proteinCoordStr_2=p.V47A;refseq.proteinCoordStr_3=p.V47A;refseq.proteinCoordStr_4=p.V47A;refseq.proteinCoordStr_5=p.V47A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=346;refseq.spliceDist_2=346;refseq.spliceDist_3=346;refseq.spliceDist_4=346;refseq.spliceDist_5=346;refseq.start_1=123381000;refseq.start_2=123381000;refseq.start_3=123381000;refseq.start_4=123381000;refseq.start_5=123381000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;set=Intersection GT 1/0 chr7 123382322 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=672;Dels=0.00;HRun=1;HaplotypeScore=5.49;MQ=98.75;MQ0=0;OQ=12554.67;QD=18.68;RankSumP=0.430090;SB=-5118.37;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.990T>C;refseq.codingCoordStr_2=c.990T>C;refseq.codingCoordStr_3=c.990T>C;refseq.codingCoordStr_4=c.990T>C;refseq.codingCoordStr_5=c.990T>C;refseq.codonCoord_1=330;refseq.codonCoord_2=330;refseq.codonCoord_3=330;refseq.codonCoord_4=330;refseq.codonCoord_5=330;refseq.end_1=123382322;refseq.end_2=123382322;refseq.end_3=123382322;refseq.end_4=123382322;refseq.end_5=123382322;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1603;refseq.mrnaCoord_3=1518;refseq.mrnaCoord_4=1429;refseq.mrnaCoord_5=1429;refseq.name2_1=SPAM1;refseq.name2_2=SPAM1;refseq.name2_3=SPAM1;refseq.name2_4=SPAM1;refseq.name2_5=SPAM1;refseq.name_1=NM_001174044;refseq.name_2=NM_001174045;refseq.name_3=NM_001174046;refseq.name_4=NM_003117;refseq.name_5=NM_153189;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A330A;refseq.proteinCoordStr_2=p.A330A;refseq.proteinCoordStr_3=p.A330A;refseq.proteinCoordStr_4=p.A330A;refseq.proteinCoordStr_5=p.A330A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.spliceDist_5=36;refseq.start_1=123382322;refseq.start_2=123382322;refseq.start_3=123382322;refseq.start_4=123382322;refseq.start_5=123382322;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/0 chr7 124174610 . A G 350.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=98.85;MQ0=0;OQ=12060.45;QD=40.47;RankSumP=1.00000;SB=-3859.54;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1047T>C;refseq.codonCoord=349;refseq.end=124174610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1698;refseq.name=NM_005302;refseq.name2=GPR37;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=24;refseq.start=124174610;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 124286401 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_4=c.155T>G;refseq.codingCoordStr_5=c.548T>G;refseq.codonCoord_4=52;refseq.codonCoord_5=183;refseq.end_1=124286401;refseq.end_2=124286401;refseq.end_3=124286401;refseq.end_4=124286401;refseq.end_5=124286401;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1149;refseq.mrnaCoord_2=1149;refseq.mrnaCoord_3=1149;refseq.mrnaCoord_4=1018;refseq.mrnaCoord_5=1149;refseq.name2_1=POT1;refseq.name2_2=POT1;refseq.name2_3=POT1;refseq.name2_4=POT1;refseq.name2_5=POT1;refseq.name_1=NR_003102;refseq.name_2=NR_003103;refseq.name_3=NR_003104;refseq.name_4=NM_001042594;refseq.name_5=NM_015450;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.V52G;refseq.proteinCoordStr_5=p.V183G;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_4=GTA;refseq.referenceCodon_5=GTA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.spliceInfo_5=splice-acceptor_2;refseq.start_1=124286401;refseq.start_2=124286401;refseq.start_3=124286401;refseq.start_4=124286401;refseq.start_5=124286401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=FilteredInAll GT 0/1 chr7 126329902 . G A 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.215111;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1086C>T;refseq.codingCoordStr_3=c.1086C>T;refseq.codonCoord_2=362;refseq.codonCoord_3=362;refseq.end_1=126329902;refseq.end_2=126329902;refseq.end_3=126329902;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1397;refseq.mrnaCoord_3=1643;refseq.name2_1=GRM8;refseq.name2_2=GRM8;refseq.name2_3=GRM8;refseq.name_1=NR_028041;refseq.name_2=NM_000845;refseq.name_3=NM_001127323;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F362F;refseq.proteinCoordStr_3=p.F362F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.start_1=126329902;refseq.start_2=126329902;refseq.start_3=126329902;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=soap GT 1/0 chr7 126329945 . C T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.378647;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1043G>A;refseq.codingCoordStr_3=c.1043G>A;refseq.codonCoord_2=348;refseq.codonCoord_3=348;refseq.end_1=126329945;refseq.end_2=126329945;refseq.end_3=126329945;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1354;refseq.mrnaCoord_2=1354;refseq.mrnaCoord_3=1600;refseq.name2_1=GRM8;refseq.name2_2=GRM8;refseq.name2_3=GRM8;refseq.name_1=NR_028041;refseq.name_2=NM_000845;refseq.name_3=NM_001127323;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R348Q;refseq.proteinCoordStr_3=p.R348Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=126329945;refseq.start_2=126329945;refseq.start_3=126329945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=FilteredInAll GT 0/1 chr7 126331899 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.372039;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.802C>T;refseq.codingCoordStr_3=c.802C>T;refseq.codonCoord_2=268;refseq.codonCoord_3=268;refseq.end_1=126331899;refseq.end_2=126331899;refseq.end_3=126331899;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1113;refseq.mrnaCoord_3=1359;refseq.name2_1=GRM8;refseq.name2_2=GRM8;refseq.name2_3=GRM8;refseq.name_1=NR_028041;refseq.name_2=NM_000845;refseq.name_3=NM_001127323;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R268C;refseq.proteinCoordStr_3=p.R268C;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=126331899;refseq.start_2=126331899;refseq.start_3=126331899;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=soap GT 1/0 chr7 126802295 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.331C>A;refseq.codonCoord=111;refseq.end=126802295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_176814;refseq.name2=ZNF800;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q111K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=30;refseq.start=126802295;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr7 127009393 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=1;HaplotypeScore=71.93;MQ=97.45;MQ0=0;OQ=9843.42;QD=19.23;RankSumP=0.317744;SB=-3996.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2239C>T;refseq.codonCoord=747;refseq.end=127009393;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2657;refseq.name=NM_024523;refseq.name2=GCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L747L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1207;refseq.start=127009393;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 1/0 chr7 127009402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2230A>C;refseq.codonCoord=744;refseq.end=127009402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2648;refseq.name=NM_024523;refseq.name2=GCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T744P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1198;refseq.start=127009402;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr7 127009554 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=193;Dels=0.00;HRun=1;HaplotypeScore=34.13;MQ=96.74;MQ0=0;OQ=2360.96;QD=12.23;RankSumP=6.17160e-07;SB=-934.37;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2078A>G;refseq.codonCoord=693;refseq.end=127009554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2496;refseq.name=NM_024523;refseq.name2=GCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E693G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1046;refseq.start=127009554;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 1/0 chr7 127009757 . G A 106.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=19.14;MQ=98.53;MQ0=0;OQ=6831.69;QD=16.87;RankSumP=0.0693632;SB=-1958.45;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1875C>T;refseq.codonCoord=625;refseq.end=127009757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2293;refseq.name=NM_024523;refseq.name2=GCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G625G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=843;refseq.start=127009757;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr7 127011522 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=4;HaplotypeScore=9.74;MQ=98.33;MQ0=0;OQ=2334.26;QD=13.34;RankSumP=0.00673016;SB=-1153.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.951T>C;refseq.codonCoord=317;refseq.end=127011522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_024523;refseq.name2=GCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D317D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-82;refseq.start=127011522;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 0/1 chr7 127038424 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.40;MQ0=0;OQ=1401.51;QD=20.61;RankSumP=0.148552;SB=-702.52;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.962A>C;refseq.codonCoord=321;refseq.end=127038424;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_006193;refseq.name2=PAX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H321P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=73;refseq.start=127038424;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr7 127271647 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1277G>C;refseq.codonCoord=426;refseq.end=127271647;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1503;refseq.name=NM_014390;refseq.name2=SND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S426T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=35;refseq.start=127271647;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 127315250 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1403A>G;refseq.codonCoord=468;refseq.end=127315250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1629;refseq.name=NM_014390;refseq.name2=SND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D468G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-52;refseq.start=127315250;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr7 127425052 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=948;Dels=0.00;HRun=0;HaplotypeScore=17.91;MQ=98.86;MQ0=0;OQ=14796.74;QD=15.61;RankSumP=0.151732;SB=-5228.44;SecondBestBaseQ=32;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=127501779;refseq.end_2=127425052;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=255;refseq.name2_1=SND1;refseq.name2_2=C7orf54;refseq.name_1=NM_014390;refseq.name_2=NR_027330;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=255;refseq.start_1=127418356;refseq.start_2=127425052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr7 127457563 . C G 35 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=9.37008e-05;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.367G>C;refseq.codonCoord_2=123;refseq.end_1=127501779;refseq.end_2=127457563;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=504;refseq.name2_1=SND1;refseq.name2_2=LRRC4;refseq.name_1=NM_014390;refseq.name_2=NM_022143;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A123P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=467;refseq.start_1=127418356;refseq.start_2=127457563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr7 127457564 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=9.73858e-08;SecondBestBaseQ=10;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.366G>C;refseq.codonCoord_2=122;refseq.end_1=127501779;refseq.end_2=127457564;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=503;refseq.name2_1=SND1;refseq.name2_2=LRRC4;refseq.name_1=NM_014390;refseq.name_2=NM_022143;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L122L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=466;refseq.start_1=127418356;refseq.start_2=127457564;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr7 127457910 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.20T>G;refseq.codonCoord_2=7;refseq.end_1=127501779;refseq.end_2=127457910;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=157;refseq.name2_1=SND1;refseq.name2_2=LRRC4;refseq.name_1=NM_014390;refseq.name_2=NM_022143;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V7G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=120;refseq.start_1=127418356;refseq.start_2=127457910;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr7 127508743 . T C 246.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=1.96;MQ=98.62;MQ0=0;OQ=4703.97;QD=19.52;RankSumP=0.0368092;SB=-1495.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2064T>C;refseq.codonCoord=688;refseq.end=127508743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2290;refseq.name=NM_014390;refseq.name2=SND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T688T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-47;refseq.start=127508743;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr7 127740474 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=411;Dels=0.00;HRun=1;HaplotypeScore=18.25;MQ=98.93;MQ0=0;OQ=7109.29;QD=17.30;RankSumP=0.438873;SB=-1502.84;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1712C>T;refseq.codingCoordStr_2=c.2135C>T;refseq.codonCoord_1=571;refseq.codonCoord_2=712;refseq.end_1=127740474;refseq.end_2=127740474;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1827;refseq.mrnaCoord_2=2250;refseq.name2_1=RBM28;refseq.name2_2=RBM28;refseq.name_1=NM_001166135;refseq.name_2=NM_018077;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S571L;refseq.proteinCoordStr_2=p.S712L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=127740474;refseq.start_2=127740474;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr7 127751978 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.786T>G;refseq.codingCoordStr_2=c.1209T>G;refseq.codonCoord_1=262;refseq.codonCoord_2=403;refseq.end_1=127751978;refseq.end_2=127751978;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=901;refseq.mrnaCoord_2=1324;refseq.name2_1=RBM28;refseq.name2_2=RBM28;refseq.name_1=NM_001166135;refseq.name_2=NM_018077;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G262G;refseq.proteinCoordStr_2=p.G403G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=127751978;refseq.start_2=127751978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr7 127764477 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.32381e-05;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.134T>G;refseq.codingCoordStr_2=c.557T>G;refseq.codonCoord_1=45;refseq.codonCoord_2=186;refseq.end_1=127764477;refseq.end_2=127764477;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=249;refseq.mrnaCoord_2=672;refseq.name2_1=RBM28;refseq.name2_2=RBM28;refseq.name_1=NM_001166135;refseq.name_2=NM_018077;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V45G;refseq.proteinCoordStr_2=p.V186G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=127764477;refseq.start_2=127764477;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr7 127821865 . C T 394.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.85;MQ0=0;OQ=2229.24;QD=40.53;RankSumP=1.00000;SB=-928.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.codingCoordStr_1=c.1575G>A;refseq.codingCoordStr_2=c.1545G>A;refseq.codingCoordStr_3=c.1320G>A;refseq.codingCoordStr_4=c.1305G>A;refseq.codingCoordStr_5=c.1245G>A;refseq.codingCoordStr_6=c.1476G>A;refseq.codingCoordStr_7=c.1467G>A;refseq.codonCoord_1=525;refseq.codonCoord_2=515;refseq.codonCoord_3=440;refseq.codonCoord_4=435;refseq.codonCoord_5=415;refseq.codonCoord_6=492;refseq.codonCoord_7=489;refseq.end_1=127821865;refseq.end_2=127821865;refseq.end_3=127821865;refseq.end_4=127821865;refseq.end_5=127821865;refseq.end_6=127821865;refseq.end_7=127821865;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1656;refseq.mrnaCoord_2=1626;refseq.mrnaCoord_3=1426;refseq.mrnaCoord_4=1411;refseq.mrnaCoord_5=1351;refseq.mrnaCoord_6=1557;refseq.mrnaCoord_7=1548;refseq.name2_1=IMPDH1;refseq.name2_2=IMPDH1;refseq.name2_3=IMPDH1;refseq.name2_4=IMPDH1;refseq.name2_5=IMPDH1;refseq.name2_6=IMPDH1;refseq.name2_7=IMPDH1;refseq.name_1=NM_000883;refseq.name_2=NM_001102605;refseq.name_3=NM_001142573;refseq.name_4=NM_001142574;refseq.name_5=NM_001142575;refseq.name_6=NM_001142576;refseq.name_7=NM_183243;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A525A;refseq.proteinCoordStr_2=p.A515A;refseq.proteinCoordStr_3=p.A440A;refseq.proteinCoordStr_4=p.A435A;refseq.proteinCoordStr_5=p.A415A;refseq.proteinCoordStr_6=p.A492A;refseq.proteinCoordStr_7=p.A489A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.spliceDist_4=25;refseq.spliceDist_5=25;refseq.spliceDist_6=25;refseq.spliceDist_7=25;refseq.start_1=127821865;refseq.start_2=127821865;refseq.start_3=127821865;refseq.start_4=127821865;refseq.start_5=127821865;refseq.start_6=127821865;refseq.start_7=127821865;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;set=Intersection GT 1/1 chr7 127836614 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_2=c.219T>G;refseq.codingCoordStr_3=c.189T>G;refseq.codingCoordStr_4=c.219T>G;refseq.codonCoord_2=73;refseq.codonCoord_3=63;refseq.codonCoord_4=73;refseq.end_1=127837035;refseq.end_2=127836614;refseq.end_3=127836614;refseq.end_4=127836614;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=300;refseq.mrnaCoord_3=270;refseq.mrnaCoord_4=300;refseq.name2_1=IMPDH1;refseq.name2_2=IMPDH1;refseq.name2_3=IMPDH1;refseq.name2_4=IMPDH1;refseq.name_1=NM_183243;refseq.name_2=NM_000883;refseq.name_3=NM_001102605;refseq.name_4=NM_001142576;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G73G;refseq.proteinCoordStr_3=p.G63G;refseq.proteinCoordStr_4=p.G73G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_2=29;refseq.spliceDist_3=-36;refseq.spliceDist_4=29;refseq.start_1=127833166;refseq.start_2=127836614;refseq.start_3=127836614;refseq.start_4=127836614;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr7 127904463 . G A 16.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=2;HaplotypeScore=11.95;MQ=22.41;MQ0=66;OQ=1692.60;QD=15.53;RankSumP=1.00000;SB=-462.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.202G>A;refseq.codonCoord=68;refseq.end=127904463;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_018396;refseq.name2=METTL2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V68I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=127904463;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=filterInsoap-gatk GT 1/1 chr7 127921220 . G A 281.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=35.93;MQ0=93;OQ=3659.51;QD=16.19;RankSumP=1.00000;SB=-1649.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.796G>A;refseq.codonCoord=266;refseq.end=127921220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_018396;refseq.name2=METTL2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V266I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-14;refseq.start=127921220;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr7 127925421 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=286;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=83.77;MQ0=0;OQ=4973.43;QD=17.39;RankSumP=0.124093;SB=-556.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.905G>A;refseq.codonCoord=302;refseq.end=127925421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_018396;refseq.name2=METTL2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R302Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-12;refseq.start=127925421;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr7 127929101 . T C 305.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=45.82;MQ0=80;OQ=5244.96;QD=21.23;RankSumP=1.00000;SB=-2183.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1032T>C;refseq.codonCoord=344;refseq.end=127929101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_018396;refseq.name2=METTL2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N344N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=50;refseq.start=127929101;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr7 128146369 . C T 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.87;MQ0=0;OQ=10563.94;QD=41.75;RankSumP=1.00000;SB=-4957.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.683C>T;refseq.codonCoord=228;refseq.end=128146369;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_032599;refseq.name2=FAM71F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S228L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=128146369;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr7 128201013 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.853G>T;refseq.codonCoord=285;refseq.end=128201013;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_001708;refseq.name2=OPN1SW;refseq.positionType=CDS;refseq.proteinCoordStr=p.V285F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-75;refseq.start=128201013;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr7 128203050 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=217.50;QD=9.46;RankSumP=0.593439;SB=-43.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.31C>T;refseq.codonCoord=11;refseq.end=128203050;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=31;refseq.name=NM_001708;refseq.name2=OPN1SW;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=31;refseq.start=128203050;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr7 128258074 . C T 208.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.85;MQ0=0;OQ=1094.39;QD=17.65;RankSumP=0.447753;SB=-399.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.147C>T;refseq.codingCoordStr_2=c.147C>T;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=128258074;refseq.end_2=128258074;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=356;refseq.mrnaCoord_2=356;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H49H;refseq.proteinCoordStr_2=p.H49H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-206;refseq.spliceDist_2=-206;refseq.start_1=128258074;refseq.start_2=128258074;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr7 128264708 . T C 200.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=19.82;MQ=98.49;MQ0=0;OQ=7039.77;QD=18.92;RankSumP=0.194759;SB=-2449.31;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.720T>C;refseq.codingCoordStr_2=c.720T>C;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=128264708;refseq.end_2=128264708;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=929;refseq.mrnaCoord_2=929;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I240I;refseq.proteinCoordStr_2=p.I240I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=128264708;refseq.start_2=128264708;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr7 128264783 . T C 260.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=17.25;MQ=98.78;MQ0=0;OQ=5373.39;QD=18.53;RankSumP=0.00147063;SB=-2256.44;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.795T>C;refseq.codingCoordStr_2=c.795T>C;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.end_1=128264783;refseq.end_2=128264783;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1004;refseq.mrnaCoord_2=1004;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G265G;refseq.proteinCoordStr_2=p.G265G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=128264783;refseq.start_2=128264783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/0 chr7 128269955 . T C 11.99 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.20;RankSumP=0.200000;SB=-21.62;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2356T>C;refseq.codingCoordStr_2=c.2356T>C;refseq.codonCoord_1=786;refseq.codonCoord_2=786;refseq.end_1=128269955;refseq.end_2=128269955;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2565;refseq.mrnaCoord_2=2565;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y786H;refseq.proteinCoordStr_2=p.Y786H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=128269955;refseq.start_2=128269955;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr7 128272052 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=97.92;MQ0=0;OQ=772.75;QD=16.10;RankSumP=0.491790;SB=-366.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.3297A>G;refseq.codingCoordStr_2=c.3297A>G;refseq.codonCoord_1=1099;refseq.codonCoord_2=1099;refseq.end_1=128272052;refseq.end_2=128272052;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3506;refseq.mrnaCoord_2=3506;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1099V;refseq.proteinCoordStr_2=p.V1099V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=128272052;refseq.start_2=128272052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr7 128273599 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=98.01;MQ0=0;OQ=1045.63;QD=14.52;RankSumP=0.226582;SB=-481.84;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.3973C>T;refseq.codingCoordStr_2=c.3973C>T;refseq.codonCoord_1=1325;refseq.codonCoord_2=1325;refseq.end_1=128273599;refseq.end_2=128273599;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4182;refseq.mrnaCoord_2=4182;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1325L;refseq.proteinCoordStr_2=p.L1325L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=128273599;refseq.start_2=128273599;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr7 128275102 . T C 412.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.84;MQ0=0;OQ=3718.10;QD=35.75;RankSumP=1.00000;SB=-1663.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4404T>C;refseq.codingCoordStr_2=c.4404T>C;refseq.codonCoord_1=1468;refseq.codonCoord_2=1468;refseq.end_1=128275102;refseq.end_2=128275102;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4613;refseq.mrnaCoord_2=4613;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1468D;refseq.proteinCoordStr_2=p.D1468D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=128275102;refseq.start_2=128275102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr7 128275294 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=4.57059e-05;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4516A>C;refseq.codingCoordStr_2=c.4516A>C;refseq.codonCoord_1=1506;refseq.codonCoord_2=1506;refseq.end_1=128275294;refseq.end_2=128275294;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4725;refseq.mrnaCoord_2=4725;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1506P;refseq.proteinCoordStr_2=p.T1506P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=128275294;refseq.start_2=128275294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr7 128275970 . G A 363.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=98.70;MQ0=0;OQ=5377.25;QD=18.74;RankSumP=0.347430;SB=-2037.37;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4700G>A;refseq.codingCoordStr_2=c.4700G>A;refseq.codonCoord_1=1567;refseq.codonCoord_2=1567;refseq.end_1=128275970;refseq.end_2=128275970;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4909;refseq.mrnaCoord_2=4909;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1567Q;refseq.proteinCoordStr_2=p.R1567Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=128275970;refseq.start_2=128275970;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr7 128276622 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.4953T>G;refseq.codingCoordStr_2=c.4953T>G;refseq.codonCoord_1=1651;refseq.codonCoord_2=1651;refseq.end_1=128276622;refseq.end_2=128276622;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5162;refseq.mrnaCoord_2=5162;refseq.name2_1=FLNC;refseq.name2_2=FLNC;refseq.name_1=NM_001127487;refseq.name_2=NM_001458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1651G;refseq.proteinCoordStr_2=p.G1651G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=128276622;refseq.start_2=128276622;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 128374610 . G A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.761339;SecondBestBaseQ=23;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_7=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.codingCoordStr_3=c.524G>A;refseq.codingCoordStr_4=c.572G>A;refseq.codingCoordStr_5=c.524G>A;refseq.codingCoordStr_6=c.543-1;refseq.codingCoordStr_7=c.524G>A;refseq.codonCoord_3=175;refseq.codonCoord_4=191;refseq.codonCoord_5=175;refseq.codonCoord_7=175;refseq.end_1=128374616;refseq.end_2=128374616;refseq.end_3=128374610;refseq.end_4=128374610;refseq.end_5=128374610;refseq.end_6=128374610;refseq.end_7=128374610;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_7=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_3=693;refseq.mrnaCoord_4=693;refseq.mrnaCoord_5=645;refseq.mrnaCoord_7=564;refseq.name2_1=IRF5;refseq.name2_2=IRF5;refseq.name2_3=IRF5;refseq.name2_4=IRF5;refseq.name2_5=IRF5;refseq.name2_6=IRF5;refseq.name2_7=IRF5;refseq.name_1=NM_001098628;refseq.name_2=NM_001098631;refseq.name_3=NM_001098627;refseq.name_4=NM_001098629;refseq.name_5=NM_001098630;refseq.name_6=NM_002200;refseq.name_7=NM_032643;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.R175Q;refseq.proteinCoordStr_4=p.R191Q;refseq.proteinCoordStr_5=p.R175Q;refseq.proteinCoordStr_7=p.R175Q;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.referenceCodon_5=CGG;refseq.referenceCodon_7=CGG;refseq.spliceDist_3=43;refseq.spliceDist_4=91;refseq.spliceDist_5=43;refseq.spliceDist_6=-1;refseq.spliceDist_7=43;refseq.spliceInfo_6=splice-acceptor_-1;refseq.start_1=128374607;refseq.start_2=128374607;refseq.start_3=128374610;refseq.start_4=128374610;refseq.start_5=128374610;refseq.start_6=128374610;refseq.start_7=128374610;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_7=Gln;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_7=CAG;set=soap GT 1/0 chr7 128374617 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.530148;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.codingCoordStr_1=c.531T>C;refseq.codingCoordStr_2=c.511-10;refseq.codingCoordStr_3=c.579T>C;refseq.codingCoordStr_4=c.531T>C;refseq.codingCoordStr_5=c.511-10;refseq.codingCoordStr_6=c.549T>C;refseq.codingCoordStr_7=c.531T>C;refseq.codonCoord_1=177;refseq.codonCoord_3=193;refseq.codonCoord_4=177;refseq.codonCoord_6=183;refseq.codonCoord_7=177;refseq.end_1=128374617;refseq.end_2=128374617;refseq.end_3=128374617;refseq.end_4=128374617;refseq.end_5=128374617;refseq.end_6=128374617;refseq.end_7=128374617;refseq.frame_1=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=700;refseq.mrnaCoord_3=700;refseq.mrnaCoord_4=652;refseq.mrnaCoord_6=670;refseq.mrnaCoord_7=571;refseq.name2_1=IRF5;refseq.name2_2=IRF5;refseq.name2_3=IRF5;refseq.name2_4=IRF5;refseq.name2_5=IRF5;refseq.name2_6=IRF5;refseq.name2_7=IRF5;refseq.name_1=NM_001098627;refseq.name_2=NM_001098628;refseq.name_3=NM_001098629;refseq.name_4=NM_001098630;refseq.name_5=NM_001098631;refseq.name_6=NM_002200;refseq.name_7=NM_032643;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.P177P;refseq.proteinCoordStr_3=p.P193P;refseq.proteinCoordStr_4=p.P177P;refseq.proteinCoordStr_6=p.P183P;refseq.proteinCoordStr_7=p.P177P;refseq.referenceAA_1=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_6=CCT;refseq.referenceCodon_7=CCT;refseq.spliceDist_1=50;refseq.spliceDist_2=-10;refseq.spliceDist_3=98;refseq.spliceDist_4=50;refseq.spliceDist_5=-10;refseq.spliceDist_6=7;refseq.spliceDist_7=50;refseq.spliceInfo_2=splice-acceptor_-10;refseq.spliceInfo_5=splice-acceptor_-10;refseq.spliceInfo_6=splice-acceptor_7;refseq.start_1=128374617;refseq.start_2=128374617;refseq.start_3=128374617;refseq.start_4=128374617;refseq.start_5=128374617;refseq.start_6=128374617;refseq.start_7=128374617;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;set=soap GT 1/0 chr7 128394620 . G A 340.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=98.76;MQ0=0;OQ=7182.41;QD=20.18;RankSumP=0.492162;SB=-2781.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2661C>T;refseq.codonCoord=887;refseq.end=128394620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3035;refseq.name=NM_012470;refseq.name2=TNPO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A887A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-51;refseq.start=128394620;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr7 128428462 . G C 172.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.97;MQ0=0;OQ=4524.52;QD=23.94;RankSumP=0.0577333;SB=-1162.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.759C>G;refseq.codonCoord=253;refseq.end=128428462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_012470;refseq.name2=TNPO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L253L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=63;refseq.start=128428462;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr7 128633355 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1049A>C;refseq.codonCoord=350;refseq.end=128633355;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_005631;refseq.name2=SMO;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y350S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-92;refseq.start=128633355;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr7 128633564 . G C 303.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.59;MQ0=0;OQ=887.78;QD=42.28;RankSumP=1.00000;SB=-265.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1164G>C;refseq.codonCoord=388;refseq.end=128633564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_005631;refseq.name2=SMO;refseq.positionType=CDS;refseq.proteinCoordStr=p.G388G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=24;refseq.start=128633564;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr7 128806809 . C A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.389685;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.455C>A;refseq.codingCoordStr_2=c.152C>A;refseq.codingCoordStr_3=c.149C>A;refseq.codingCoordStr_4=c.458C>A;refseq.codonCoord_1=152;refseq.codonCoord_2=51;refseq.codonCoord_3=50;refseq.codonCoord_4=153;refseq.end_1=128806809;refseq.end_2=128806809;refseq.end_3=128806809;refseq.end_4=128806809;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=509;refseq.mrnaCoord_2=506;refseq.mrnaCoord_3=503;refseq.mrnaCoord_4=512;refseq.name2_1=AHCYL2;refseq.name2_2=AHCYL2;refseq.name2_3=AHCYL2;refseq.name2_4=AHCYL2;refseq.name_1=NM_001130720;refseq.name_2=NM_001130722;refseq.name_3=NM_001130723;refseq.name_4=NM_015328;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T152N;refseq.proteinCoordStr_2=p.T51N;refseq.proteinCoordStr_3=p.T50N;refseq.proteinCoordStr_4=p.T153N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.spliceDist_4=-18;refseq.start_1=128806809;refseq.start_2=128806809;refseq.start_3=128806809;refseq.start_4=128806809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=FilteredInAll GT 1/0 chr7 128887409 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.64;MQ0=0;OQ=1886.61;QD=21.44;RankSumP=0.249227;SB=-876.75;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1436T>G;refseq.codingCoordStr_2=c.1436T>G;refseq.codonCoord_1=479;refseq.codonCoord_2=479;refseq.end_1=128887409;refseq.end_2=128887409;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1476;refseq.mrnaCoord_2=1476;refseq.name2_1=FAM40B;refseq.name2_2=FAM40B;refseq.name_1=NM_001134336;refseq.name_2=NM_020704;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I479S;refseq.proteinCoordStr_2=p.I479S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=128887409;refseq.start_2=128887409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr7 129084468 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=9.35371e-07;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.41C>A;refseq.codingCoordStr_2=c.41C>A;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=129084468;refseq.end_2=129084468;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=141;refseq.mrnaCoord_2=158;refseq.name2_1=NRF1;refseq.name2_2=NRF1;refseq.name_1=NM_001040110;refseq.name_2=NM_005011;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T14N;refseq.proteinCoordStr_2=p.T14N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=50;refseq.spliceDist_2=47;refseq.start_1=129084468;refseq.start_2=129084468;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr7 129084568 . T G 221.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=14.50;MQ=98.52;MQ0=0;OQ=6231.20;QD=14.98;RankSumP=0.300038;SB=-2004.56;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.141T>G;refseq.codingCoordStr_2=c.141T>G;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=129084568;refseq.end_2=129084568;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=241;refseq.mrnaCoord_2=258;refseq.name2_1=NRF1;refseq.name2_2=NRF1;refseq.name_1=NM_001040110;refseq.name_2=NM_005011;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S47S;refseq.proteinCoordStr_2=p.S47S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=129084568;refseq.start_2=129084568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr7 129201804 . G A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=60.07;QD=4.29;RankSumP=0.643357;SB=11.05;SecondBestBaseQ=34;refseq.chr=chr7;refseq.end=129201804;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=42;refseq.name=NR_029512;refseq.name2=MIR96;refseq.positionType=non_coding_exon;refseq.spliceDist=-34;refseq.start=129201804;refseq.transcriptStrand=-;set=soap-filterIngatk GT 1/0 chr7 129468113 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.323T>G;refseq.codonCoord=108;refseq.end=129468113;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_016478;refseq.name2=ZC3HC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V108G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=65;refseq.start=129468113;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr7 129643073 . C T 302.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.80;MQ0=0;OQ=2861.72;QD=20.59;RankSumP=0.0488527;SB=-1389.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.262C>T;refseq.codonCoord=88;refseq.end=129643073;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=309;refseq.name=NM_145268;refseq.name2=C7orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R88W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=24;refseq.start=129643073;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr7 129703751 . T C 221.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=98.61;MQ0=0;OQ=8851.24;QD=35.26;RankSumP=1.00000;SB=-3313.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.633T>C;refseq.codonCoord=211;refseq.end=129703751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_001869;refseq.name2=CPA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D211D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=48;refseq.start=129703751;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr7 129725834 . G T 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6410.08;QD=40.31;RankSumP=1.00000;SB=-2360.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.81G>T;refseq.codingCoordStr_2=c.81G>T;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=129725834;refseq.end_2=129725834;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=128;refseq.mrnaCoord_2=128;refseq.name2_1=CPA4;refseq.name2_2=CPA4;refseq.name_1=NM_001163446;refseq.name_2=NM_016352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L27F;refseq.proteinCoordStr_2=p.L27F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=129725834;refseq.start_2=129725834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr7 129737976 . G T 197.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=4.61;MQ=98.47;MQ0=0;OQ=1758.79;QD=13.53;RankSumP=0.305424;SB=-884.66;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.808G>T;refseq.codingCoordStr_2=c.907G>T;refseq.codonCoord_1=270;refseq.codonCoord_2=303;refseq.end_1=129737976;refseq.end_2=129737976;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=855;refseq.mrnaCoord_2=954;refseq.name2_1=CPA4;refseq.name2_2=CPA4;refseq.name_1=NM_001163446;refseq.name_2=NM_016352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G270C;refseq.proteinCoordStr_2=p.G303C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=129737976;refseq.start_2=129737976;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr7 129749596 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=18.85;MQ=98.71;MQ0=0;OQ=20769.39;QD=37.56;RankSumP=1.00000;SB=-9501.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1011A>G;refseq.codingCoordStr_2=c.1110A>G;refseq.codonCoord_1=337;refseq.codonCoord_2=370;refseq.end_1=129749596;refseq.end_2=129749596;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=1157;refseq.name2_1=CPA4;refseq.name2_2=CPA4;refseq.name_1=NM_001163446;refseq.name_2=NM_016352;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A337A;refseq.proteinCoordStr_2=p.A370A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=129749596;refseq.start_2=129749596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr7 129773574 . C T 196.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.75;MQ0=0;OQ=2173.70;QD=21.74;RankSumP=0.0491898;SB=-697.99;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.12C>T;refseq.codingCoordStr_2=c.12C>T;refseq.codingCoordStr_3=c.12C>T;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.codonCoord_3=4;refseq.end_1=129773574;refseq.end_2=129773574;refseq.end_3=129773574;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=632;refseq.mrnaCoord_2=521;refseq.mrnaCoord_3=579;refseq.name2_1=CPA5;refseq.name2_2=CPA5;refseq.name2_3=CPA5;refseq.name_1=NM_001127441;refseq.name_2=NM_001127442;refseq.name_3=NM_080385;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T4T;refseq.proteinCoordStr_2=p.T4T;refseq.proteinCoordStr_3=p.T4T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=91;refseq.spliceDist_2=-105;refseq.spliceDist_3=-105;refseq.start_1=129773574;refseq.start_2=129773574;refseq.start_3=129773574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr7 129789553 . T C 334.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=9.23;MQ=98.73;MQ0=0;OQ=5457.06;QD=17.27;RankSumP=0.322478;SB=-1439.20;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.573T>C;refseq.codingCoordStr_2=c.573T>C;refseq.codingCoordStr_3=c.573T>C;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.end_1=129789553;refseq.end_2=129789553;refseq.end_3=129789553;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1193;refseq.mrnaCoord_2=1082;refseq.mrnaCoord_3=1140;refseq.name2_1=CPA5;refseq.name2_2=CPA5;refseq.name2_3=CPA5;refseq.name_1=NM_001127441;refseq.name_2=NM_001127442;refseq.name_3=NM_080385;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I191I;refseq.proteinCoordStr_2=p.I191I;refseq.proteinCoordStr_3=p.I191I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=129789553;refseq.start_2=129789553;refseq.start_3=129789553;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/0 chr7 129794617 . T C 189.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=20.26;MQ=98.50;MQ0=0;OQ=7243.14;QD=19.21;RankSumP=0.0327811;SB=-2865.07;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1007T>C;refseq.codingCoordStr_2=c.1007T>C;refseq.codingCoordStr_3=c.1007T>C;refseq.codonCoord_1=336;refseq.codonCoord_2=336;refseq.codonCoord_3=336;refseq.end_1=129794617;refseq.end_2=129794617;refseq.end_3=129794617;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1627;refseq.mrnaCoord_2=1516;refseq.mrnaCoord_3=1574;refseq.name2_1=CPA5;refseq.name2_2=CPA5;refseq.name2_3=CPA5;refseq.name_1=NM_001127441;refseq.name_2=NM_001127442;refseq.name_3=NM_080385;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L336S;refseq.proteinCoordStr_2=p.L336S;refseq.proteinCoordStr_3=p.L336S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=129794617;refseq.start_2=129794617;refseq.start_3=129794617;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr7 129794624 . G T 253.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=11.25;MQ=98.55;MQ0=0;OQ=6948.17;QD=19.52;RankSumP=0.117285;SB=-2485.70;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1014G>T;refseq.codingCoordStr_2=c.1014G>T;refseq.codingCoordStr_3=c.1014G>T;refseq.codonCoord_1=338;refseq.codonCoord_2=338;refseq.codonCoord_3=338;refseq.end_1=129794624;refseq.end_2=129794624;refseq.end_3=129794624;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1634;refseq.mrnaCoord_2=1523;refseq.mrnaCoord_3=1581;refseq.name2_1=CPA5;refseq.name2_2=CPA5;refseq.name2_3=CPA5;refseq.name_1=NM_001127441;refseq.name_2=NM_001127442;refseq.name_3=NM_080385;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E338D;refseq.proteinCoordStr_2=p.E338D;refseq.proteinCoordStr_3=p.E338D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=129794624;refseq.start_2=129794624;refseq.start_3=129794624;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr7 129795521 . T C 118.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=563;Dels=0.00;HRun=0;HaplotypeScore=14.01;MQ=98.92;MQ0=0;OQ=10679.14;QD=18.97;RankSumP=0.185211;SB=-4068.38;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1158T>C;refseq.codingCoordStr_2=c.1073T>C;refseq.codingCoordStr_3=c.1158T>C;refseq.codonCoord_1=386;refseq.codonCoord_2=358;refseq.codonCoord_3=386;refseq.end_1=129795521;refseq.end_2=129795521;refseq.end_3=129795521;refseq.frame_1=2;refseq.frame_2=1;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1778;refseq.mrnaCoord_2=1582;refseq.mrnaCoord_3=1725;refseq.name2_1=CPA5;refseq.name2_2=CPA5;refseq.name2_3=CPA5;refseq.name_1=NM_001127441;refseq.name_2=NM_001127442;refseq.name_3=NM_080385;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y386Y;refseq.proteinCoordStr_2=p.M358T;refseq.proteinCoordStr_3=p.Y386Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Met;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=129795521;refseq.start_2=129795521;refseq.start_3=129795521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Thr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=ACG;refseq.variantCodon_3=TAC;set=Intersection GT 1/0 chr7 129808724 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=4.27;MQ=98.24;MQ0=0;OQ=1378.65;QD=18.14;RankSumP=0.241849;SB=-422.17;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.165G>C;refseq.codonCoord=55;refseq.end=129808724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_001868;refseq.name2=CPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G55G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=18;refseq.start=129808724;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr7 129809277 . C T 335.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=11.77;MQ=98.88;MQ0=0;OQ=8364.37;QD=17.83;RankSumP=0.104128;SB=-2468.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.474C>T;refseq.codonCoord=158;refseq.end=129809277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_001868;refseq.name2=CPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y158Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=129809277;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr7 129810775 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=477;Dels=0.00;HRun=0;HaplotypeScore=57.84;MQ=97.10;MQ0=0;OQ=6326.68;QD=13.26;RankSumP=0.421572;SB=-117.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.600C>T;refseq.codonCoord=200;refseq.end=129810775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_001868;refseq.name2=CPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y200Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=15;refseq.start=129810775;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr7 129826030 . C G 52 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=62;Dels=0.00;HRun=4;HaplotypeScore=6.92;MQ=97.26;MQ0=0;QD=0.75;RankSumP=0.000512353;SB=38.16;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1060G>C;refseq.codonCoord=354;refseq.end=129826030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1107;refseq.name=NM_018718;refseq.name2=TSGA14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A354P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=87;refseq.start=129826030;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 130069065 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=325.98;QD=17.16;RankSumP=0.515250;SB=-154.61;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.336C>T;refseq.codonCoord=112;refseq.end=130069065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_138693;refseq.name2=KLF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S112S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=364;refseq.start=130069065;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr7 130778890 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1215G>T;refseq.codingCoordStr_2=c.1284G>T;refseq.codonCoord_1=405;refseq.codonCoord_2=428;refseq.end_1=130778890;refseq.end_2=130778890;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1420;refseq.mrnaCoord_2=1348;refseq.name2_1=MKLN1;refseq.name2_2=MKLN1;refseq.name_1=NM_001145354;refseq.name_2=NM_013255;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L405F;refseq.proteinCoordStr_2=p.L428F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.start_1=130778890;refseq.start_2=130778890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr7 130841236 . T C 194.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.32;MQ0=0;OQ=926.62;QD=15.19;RankSumP=0.186351;SB=-289.48;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1410A>G;refseq.codingCoordStr_2=c.1314A>G;refseq.codonCoord_1=470;refseq.codonCoord_2=438;refseq.end_1=130841236;refseq.end_2=130841236;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1668;refseq.mrnaCoord_2=1572;refseq.name2_1=PODXL;refseq.name2_2=PODXL;refseq.name_1=NM_001018111;refseq.name_2=NM_005397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A470A;refseq.proteinCoordStr_2=p.A438A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=130841236;refseq.start_2=130841236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr7 130846252 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=98.72;MQ0=0;OQ=3204.97;QD=17.32;RankSumP=0.458697;SB=-616.01;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.581C>T;refseq.codingCoordStr_2=c.581C>T;refseq.codonCoord_1=194;refseq.codonCoord_2=194;refseq.end_1=130846252;refseq.end_2=130846252;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=839;refseq.mrnaCoord_2=839;refseq.name2_1=PODXL;refseq.name2_2=PODXL;refseq.name_1=NM_001018111;refseq.name_2=NM_005397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S194L;refseq.proteinCoordStr_2=p.S194L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.start_1=130846252;refseq.start_2=130846252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr7 130846348 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.485G>C;refseq.codingCoordStr_2=c.485G>C;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=130846348;refseq.end_2=130846348;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=743;refseq.mrnaCoord_2=743;refseq.name2_1=PODXL;refseq.name2_2=PODXL;refseq.name_1=NM_001018111;refseq.name_2=NM_005397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S162T;refseq.proteinCoordStr_2=p.S162T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-222;refseq.spliceDist_2=-222;refseq.start_1=130846348;refseq.start_2=130846348;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr7 130846457 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=668;Dels=0.00;HRun=1;HaplotypeScore=39.61;MQ=98.38;MQ0=0;OQ=10524.89;QD=15.76;RankSumP=0.163243;SB=-3673.79;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.376A>C;refseq.codingCoordStr_2=c.376A>C;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=130846457;refseq.end_2=130846457;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=634;refseq.mrnaCoord_2=634;refseq.name2_1=PODXL;refseq.name2_2=PODXL;refseq.name_1=NM_001018111;refseq.name_2=NM_005397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T126P;refseq.proteinCoordStr_2=p.T126P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=276;refseq.spliceDist_2=276;refseq.start_1=130846457;refseq.start_2=130846457;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr7 130846499 . C T 216.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=593;Dels=0.00;HRun=0;HaplotypeScore=15.91;MQ=98.34;MQ0=0;OQ=10205.35;QD=17.21;RankSumP=0.246202;SB=-3445.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.334G>A;refseq.codingCoordStr_2=c.334G>A;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.end_1=130846499;refseq.end_2=130846499;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=592;refseq.mrnaCoord_2=592;refseq.name2_1=PODXL;refseq.name2_2=PODXL;refseq.name_1=NM_001018111;refseq.name_2=NM_005397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G112S;refseq.proteinCoordStr_2=p.G112S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=234;refseq.spliceDist_2=234;refseq.start_1=130846499;refseq.start_2=130846499;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr7 131465850 . A G 235.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.83;MQ0=0;OQ=16187.03;QD=37.82;RankSumP=1.00000;SB=-5521.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.5613T>C;refseq.codonCoord=1871;refseq.end=131465850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5842;refseq.name=NM_020911;refseq.name2=PLXNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1871D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=24;refseq.start=131465850;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr7 131515122 . G C 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.0319102;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3738C>G;refseq.codonCoord=1246;refseq.end=131515122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3967;refseq.name=NM_020911;refseq.name2=PLXNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1246G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=99;refseq.start=131515122;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr7 131515131 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=15.59;MQ=95.28;MQ0=0;OQ=551.81;QD=7.17;RankSumP=0.439237;SB=-232.24;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3729A>G;refseq.codonCoord=1243;refseq.end=131515131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3958;refseq.name=NM_020911;refseq.name2=PLXNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1243A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=90;refseq.start=131515131;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr7 131633388 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr7;refseq.codingCoordStr=c.1503+2;refseq.end=131633388;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020911;refseq.name2=PLXNA4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=131633388;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr7 131720594 . T C 301.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=98.97;MQ0=0;OQ=6042.00;QD=39.23;RankSumP=1.00000;SB=-970.35;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.1372A>G;refseq.codonCoord_2=458;refseq.end_1=131824580;refseq.end_2=131720594;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1601;refseq.name2_1=PLXNA4;refseq.name2_2=PLXNA4;refseq.name_1=NM_020911;refseq.name_2=NM_001105543;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M458V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=131633532;refseq.start_2=131720594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr7 131842835 . G A 218.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=5.23;MQ=98.40;MQ0=0;OQ=8590.66;QD=34.23;RankSumP=1.00000;SB=-2068.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1158C>T;refseq.codingCoordStr_2=c.1158C>T;refseq.codingCoordStr_3=c.1158C>T;refseq.codonCoord_1=386;refseq.codonCoord_2=386;refseq.codonCoord_3=386;refseq.end_1=131842835;refseq.end_2=131842835;refseq.end_3=131842835;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1387;refseq.mrnaCoord_2=1387;refseq.mrnaCoord_3=1535;refseq.name2_1=PLXNA4;refseq.name2_2=PLXNA4;refseq.name2_3=PLXNA4;refseq.name_1=NM_001105543;refseq.name_2=NM_020911;refseq.name_3=NM_181775;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L386L;refseq.proteinCoordStr_2=p.L386L;refseq.proteinCoordStr_3=p.L386L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=131842835;refseq.start_2=131842835;refseq.start_3=131842835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/1 chr7 131843489 . T C 128.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=98.73;MQ0=0;OQ=3352.39;QD=32.23;RankSumP=1.00000;SB=-852.60;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.504A>G;refseq.codingCoordStr_2=c.504A>G;refseq.codingCoordStr_3=c.504A>G;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.codonCoord_3=168;refseq.end_1=131843489;refseq.end_2=131843489;refseq.end_3=131843489;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=733;refseq.mrnaCoord_3=881;refseq.name2_1=PLXNA4;refseq.name2_2=PLXNA4;refseq.name2_3=PLXNA4;refseq.name_1=NM_001105543;refseq.name_2=NM_020911;refseq.name_3=NM_181775;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S168S;refseq.proteinCoordStr_2=p.S168S;refseq.proteinCoordStr_3=p.S168S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=590;refseq.spliceDist_2=590;refseq.spliceDist_3=590;refseq.start_1=131843489;refseq.start_2=131843489;refseq.start_3=131843489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr7 133252879 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1875T>G;refseq.codonCoord=625;refseq.end=133252879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1910;refseq.name=NM_021807;refseq.name2=EXOC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G625G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=133252879;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 133519047 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=800;Dels=0.00;HRun=0;HaplotypeScore=32.77;MQ=98.88;MQ0=0;OQ=33449.55;QD=41.81;RankSumP=1.00000;SB=-16067.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1236C>T;refseq.codonCoord=412;refseq.end=133519047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_144648;refseq.name2=LRGUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A412A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=22;refseq.start=133519047;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 1/1 chr7 133630335 . T C 147.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1325.80;QD=34.89;RankSumP=1.00000;SB=-118.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.786A>G;refseq.codonCoord=262;refseq.end=133630335;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_032826;refseq.name2=SLC35B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T262T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=37;refseq.start=133630335;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 133865943 . T C 380.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=95.74;MQ0=0;OQ=11125.68;QD=39.31;RankSumP=1.00000;SB=-3282.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.75T>C;refseq.codonCoord=25;refseq.end=133865943;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_020299;refseq.name2=AKR1B10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L25L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=133865943;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr7 133872366 . A G 117.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=65.63;MQ0=6;OQ=316.31;QD=19.77;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.576A>G;refseq.codonCoord=192;refseq.end=133872366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=896;refseq.name=NM_020299;refseq.name2=AKR1B10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T192T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=24;refseq.start=133872366;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 133876367 . A G 382.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1599.53;QD=39.01;RankSumP=1.00000;SB=-768.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.937A>G;refseq.codonCoord=313;refseq.end=133876367;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1257;refseq.name=NM_020299;refseq.name2=AKR1B10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N313D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=29;refseq.start=133876367;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr7 134269250 . A G 131.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=481.68;QD=15.54;RankSumP=0.00678406;SB=-76.32;SecondBestBaseQ=31;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_5=c.1190A>G;refseq.codonCoord_5=397;refseq.end_1=134270968;refseq.end_2=134270968;refseq.end_3=134276372;refseq.end_4=134276372;refseq.end_5=134269250;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=1656;refseq.name2_1=CALD1;refseq.name2_2=CALD1;refseq.name2_3=CALD1;refseq.name2_4=CALD1;refseq.name2_5=CALD1;refseq.name_1=NM_033139;refseq.name_2=NM_033157;refseq.name_3=NM_004342;refseq.name_4=NM_033140;refseq.name_5=NM_033138;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.H397R;refseq.referenceAA_5=His;refseq.referenceCodon_5=CAT;refseq.spliceDist_5=-119;refseq.start_1=134268692;refseq.start_2=134268692;refseq.start_3=134268692;refseq.start_4=134268692;refseq.start_5=134269250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Arg;refseq.variantCodon_5=CGT;set=filterInsoap-gatk GT 0/1 chr7 134303632 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.1613T>G;refseq.codingCoordStr_2=c.2378T>G;refseq.codingCoordStr_3=c.1673T>G;refseq.codingCoordStr_4=c.1595T>G;refseq.codingCoordStr_5=c.1688T>G;refseq.codonCoord_1=538;refseq.codonCoord_2=793;refseq.codonCoord_3=558;refseq.codonCoord_4=532;refseq.codonCoord_5=563;refseq.end_1=134303632;refseq.end_2=134303632;refseq.end_3=134303632;refseq.end_4=134303632;refseq.end_5=134303632;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2079;refseq.mrnaCoord_2=2844;refseq.mrnaCoord_3=1894;refseq.mrnaCoord_4=1816;refseq.mrnaCoord_5=2154;refseq.name2_1=CALD1;refseq.name2_2=CALD1;refseq.name2_3=CALD1;refseq.name2_4=CALD1;refseq.name2_5=CALD1;refseq.name_1=NM_004342;refseq.name_2=NM_033138;refseq.name_3=NM_033139;refseq.name_4=NM_033140;refseq.name_5=NM_033157;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V538G;refseq.proteinCoordStr_2=p.V793G;refseq.proteinCoordStr_3=p.V558G;refseq.proteinCoordStr_4=p.V532G;refseq.proteinCoordStr_5=p.V563G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.spliceInfo_5=splice-acceptor_2;refseq.start_1=134303632;refseq.start_2=134303632;refseq.start_3=134303632;refseq.start_4=134303632;refseq.start_5=134303632;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 1/0 chr7 134499753 . G A 320.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.55;MQ0=0;OQ=4403.70;QD=17.34;RankSumP=0.00349194;SB=-1723.04;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.20G>A;refseq.codonCoord=7;refseq.end=134499753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_018295;refseq.name2=TMEM140;refseq.positionType=CDS;refseq.proteinCoordStr=p.R7Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=44;refseq.start=134499753;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/0 chr7 134499820 . T A 448.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.66;MQ0=0;OQ=7265.48;QD=37.26;RankSumP=1.00000;SB=-2232.07;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.87T>A;refseq.codonCoord=29;refseq.end=134499820;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_018295;refseq.name2=TMEM140;refseq.positionType=CDS;refseq.proteinCoordStr=p.F29L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=111;refseq.start=134499820;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr7 134500117 . A C 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=194.71;QD=8.11;RankSumP=0.242712;SB=-113.64;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.384A>C;refseq.codonCoord=128;refseq.end=134500117;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_018295;refseq.name2=TMEM140;refseq.positionType=CDS;refseq.proteinCoordStr=p.A128A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=408;refseq.start=134500117;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr7 134521508 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2179A>C;refseq.codonCoord=727;refseq.end=134521508;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2241;refseq.name=NM_014149;refseq.name2=WDR91;refseq.positionType=CDS;refseq.proteinCoordStr=p.T727P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=100;refseq.start=134521508;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 134522315 . C T 135.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.86;MQ0=0;OQ=1195.84;QD=13.00;RankSumP=0.0777788;SB=-619.08;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2028G>A;refseq.codonCoord=676;refseq.end=134522315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2090;refseq.name=NM_014149;refseq.name2=WDR91;refseq.positionType=CDS;refseq.proteinCoordStr=p.S676S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-52;refseq.start=134522315;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr7 134530370 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.67;MQ0=0;OQ=1198.11;QD=11.30;RankSumP=0.0493225;SB=-423.73;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1251C>T;refseq.codonCoord=417;refseq.end=134530370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1313;refseq.name=NM_014149;refseq.name2=WDR91;refseq.positionType=CDS;refseq.proteinCoordStr=p.D417D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=134530370;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr7 134539681 . G A 267.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=98.69;MQ0=0;OQ=2685.92;QD=17.67;RankSumP=0.187757;SB=-1311.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.770C>T;refseq.codonCoord=257;refseq.end=134539681;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=832;refseq.name=NM_014149;refseq.name2=WDR91;refseq.positionType=CDS;refseq.proteinCoordStr=p.P257L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=45;refseq.start=134539681;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr7 134575951 . G A 305.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.93;MQ0=0;OQ=4547.94;QD=35.53;RankSumP=1.00000;SB=-1443.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.201G>A;refseq.codonCoord=67;refseq.end=134575951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_182489;refseq.name2=STRA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A67A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-58;refseq.start=134575951;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr7 134578080 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.266T>G;refseq.codonCoord=89;refseq.end=134578080;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_182489;refseq.name2=STRA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V89G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=134578080;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr7 134581896 . G C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.400000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.634G>C;refseq.codonCoord=212;refseq.end=134581896;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_182489;refseq.name2=STRA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E212Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-99;refseq.start=134581896;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 0/1 chr7 134698243 . T C 153.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=3.59;MQ=96.91;MQ0=0;OQ=2341.71;QD=32.98;RankSumP=1.00000;SB=-858.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1854A>G;refseq.codonCoord=618;refseq.end=134698243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_013316;refseq.name2=CNOT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T618T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=236;refseq.start=134698243;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr7 134911568 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.354A>C;refseq.codonCoord=118;refseq.end=134911568;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_015135;refseq.name2=NUP205;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q118H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=11;refseq.start=134911568;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr7 134929855 . A C 258.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=3.18;MQ=98.44;MQ0=0;OQ=8755.34;QD=40.53;RankSumP=1.00000;SB=-2614.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1851A>C;refseq.codonCoord=617;refseq.end=134929855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1882;refseq.name=NM_015135;refseq.name2=NUP205;refseq.positionType=CDS;refseq.proteinCoordStr=p.A617A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=21;refseq.start=134929855;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr7 134954813 . G C 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.58;MQ0=0;OQ=12576.47;QD=49.71;RankSumP=1.00000;SB=-3514.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4066G>C;refseq.codonCoord=1356;refseq.end=134954813;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4097;refseq.name=NM_015135;refseq.name2=NUP205;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1356Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=103;refseq.start=134954813;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr7 135034683 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=3.89547e-07;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.865A>C;refseq.codonCoord=289;refseq.end=135034683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1554;refseq.name=NM_012450;refseq.name2=SLC13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T289P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-32;refseq.start=135034683;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 135043416 . T C 94.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.30;MQ0=0;OQ=4827.15;QD=39.89;RankSumP=1.00000;SB=-2139.53;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.351A>G;refseq.codonCoord=117;refseq.end=135043416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_012450;refseq.name2=SLC13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G117G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-15;refseq.start=135043416;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr7 135056716 . A G 176.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.84;MQ0=0;OQ=1310.19;QD=20.16;RankSumP=0.266432;SB=-249.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.195T>C;refseq.codonCoord=65;refseq.end=135056716;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=884;refseq.name=NM_012450;refseq.name2=SLC13A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L65L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-34;refseq.start=135056716;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr7 135265280 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=502;Dels=0.00;HRun=2;HaplotypeScore=16.37;MQ=98.55;MQ0=0;OQ=9234.00;QD=18.39;RankSumP=0.468686;SB=-2269.55;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.-2542A>G;refseq.codingCoordStr_2=c.291A>G;refseq.codonCoord_2=97;refseq.end_1=135265280;refseq.end_2=135265280;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=647;refseq.mrnaCoord_2=647;refseq.name2_1=LUZP6;refseq.name2_2=MTPN;refseq.name_1=NM_001128619;refseq.name_2=NM_145808;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K97K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=135265280;refseq.start_2=135265280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr7 136350575 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.chr_7=chr7;refseq.chr_8=chr7;refseq.codingCoordStr_1=c.423T>G;refseq.codingCoordStr_2=c.423T>G;refseq.codingCoordStr_3=c.423T>G;refseq.codingCoordStr_4=c.423T>G;refseq.codingCoordStr_5=c.423T>G;refseq.codingCoordStr_6=c.423T>G;refseq.codingCoordStr_7=c.423T>G;refseq.codingCoordStr_8=c.423T>G;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.codonCoord_4=141;refseq.codonCoord_5=141;refseq.codonCoord_6=141;refseq.codonCoord_7=141;refseq.codonCoord_8=141;refseq.end_1=136350575;refseq.end_2=136350575;refseq.end_3=136350575;refseq.end_4=136350575;refseq.end_5=136350575;refseq.end_6=136350575;refseq.end_7=136350575;refseq.end_8=136350575;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=835;refseq.mrnaCoord_3=968;refseq.mrnaCoord_4=720;refseq.mrnaCoord_5=651;refseq.mrnaCoord_6=1046;refseq.mrnaCoord_7=738;refseq.mrnaCoord_8=716;refseq.name2_1=CHRM2;refseq.name2_2=CHRM2;refseq.name2_3=CHRM2;refseq.name2_4=CHRM2;refseq.name2_5=CHRM2;refseq.name2_6=CHRM2;refseq.name2_7=CHRM2;refseq.name2_8=CHRM2;refseq.name_1=NM_000739;refseq.name_2=NM_001006626;refseq.name_3=NM_001006627;refseq.name_4=NM_001006628;refseq.name_5=NM_001006629;refseq.name_6=NM_001006630;refseq.name_7=NM_001006631;refseq.name_8=NM_001006632;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.G141G;refseq.proteinCoordStr_2=p.G141G;refseq.proteinCoordStr_3=p.G141G;refseq.proteinCoordStr_4=p.G141G;refseq.proteinCoordStr_5=p.G141G;refseq.proteinCoordStr_6=p.G141G;refseq.proteinCoordStr_7=p.G141G;refseq.proteinCoordStr_8=p.G141G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.referenceCodon_7=GGT;refseq.referenceCodon_8=GGT;refseq.spliceDist_1=469;refseq.spliceDist_2=469;refseq.spliceDist_3=469;refseq.spliceDist_4=469;refseq.spliceDist_5=469;refseq.spliceDist_6=469;refseq.spliceDist_7=469;refseq.spliceDist_8=469;refseq.start_1=136350575;refseq.start_2=136350575;refseq.start_3=136350575;refseq.start_4=136350575;refseq.start_5=136350575;refseq.start_6=136350575;refseq.start_7=136350575;refseq.start_8=136350575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;refseq.variantCodon_8=GGG;set=FilteredInAll GT 1/0 chr7 136779370 . T C 254.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3137.84;QD=42.98;RankSumP=1.00000;SB=-1127.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2778A>G;refseq.codonCoord=926;refseq.end=136779370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2779;refseq.name=NM_004717;refseq.name2=DGKI;refseq.positionType=CDS;refseq.proteinCoordStr=p.E926E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=136779370;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr7 137251230 . C T 192.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=99.00;MQ0=0;OQ=4945.32;QD=22.68;RankSumP=0.394391;SB=-1609.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.388G>A;refseq.codonCoord=130;refseq.end=137251230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_194071;refseq.name2=CREB3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V130I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=69;refseq.start=137251230;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr7 137902925 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1588C>A;refseq.codingCoordStr_2=c.1690C>A;refseq.codonCoord_1=530;refseq.codonCoord_2=564;refseq.end_1=137902925;refseq.end_2=137902925;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1803;refseq.mrnaCoord_2=1905;refseq.name2_1=TRIM24;refseq.name2_2=TRIM24;refseq.name_1=NM_003852;refseq.name_2=NM_015905;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q530K;refseq.proteinCoordStr_2=p.Q564K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=137902925;refseq.start_2=137902925;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr7 137915850 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=820;Dels=0.00;HRun=2;HaplotypeScore=22.52;MQ=98.76;MQ0=0;OQ=15991.96;QD=19.50;RankSumP=0.0856709;SB=-6011.11;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.2487A>G;refseq.codingCoordStr_2=c.2589A>G;refseq.codonCoord_1=829;refseq.codonCoord_2=863;refseq.end_1=137915850;refseq.end_2=137915850;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2702;refseq.mrnaCoord_2=2804;refseq.name2_1=TRIM24;refseq.name2_2=TRIM24;refseq.name_1=NM_003852;refseq.name_2=NM_015905;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G829G;refseq.proteinCoordStr_2=p.G863G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=137915850;refseq.start_2=137915850;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr7 137956346 . T C 219.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=98.24;MQ0=0;OQ=3002.58;QD=14.72;RankSumP=0.0898476;SB=-653.62;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1338A>G;refseq.codingCoordStr_2=c.882A>G;refseq.codonCoord_1=446;refseq.codonCoord_2=294;refseq.end_1=137956346;refseq.end_2=137956346;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1338;refseq.mrnaCoord_2=955;refseq.name2_1=SVOPL;refseq.name2_2=SVOPL;refseq.name_1=NM_001139456;refseq.name_2=NM_174959;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A446A;refseq.proteinCoordStr_2=p.A294A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=137956346;refseq.start_2=137956346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr7 137962662 . A C 329.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.91;MQ0=0;OQ=4629.73;QD=18.90;RankSumP=0.182742;SB=-1168.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1154T>G;refseq.codingCoordStr_2=c.698T>G;refseq.codonCoord_1=385;refseq.codonCoord_2=233;refseq.end_1=137962662;refseq.end_2=137962662;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1154;refseq.mrnaCoord_2=771;refseq.name2_1=SVOPL;refseq.name2_2=SVOPL;refseq.name_1=NM_001139456;refseq.name_2=NM_174959;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F385C;refseq.proteinCoordStr_2=p.F233C;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=137962662;refseq.start_2=137962662;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr7 138106528 . A G 458.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.61;MQ0=0;OQ=6753.79;QD=39.04;RankSumP=1.00000;SB=-1915.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.5T>C;refseq.codingCoordStr_2=c.5T>C;refseq.codingCoordStr_3=c.5T>C;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.codonCoord_3=2;refseq.end_1=138106528;refseq.end_2=138106528;refseq.end_3=138106528;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=288;refseq.mrnaCoord_2=185;refseq.mrnaCoord_3=243;refseq.name2_1=ATP6V0A4;refseq.name2_2=ATP6V0A4;refseq.name2_3=ATP6V0A4;refseq.name_1=NM_020632;refseq.name_2=NM_130840;refseq.name_3=NM_130841;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V2A;refseq.proteinCoordStr_2=p.V2A;refseq.proteinCoordStr_3=p.V2A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=138106528;refseq.start_2=138106528;refseq.start_3=138106528;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr7 138382997 . G A 108.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=2;HaplotypeScore=5.11;MQ=98.90;MQ0=0;OQ=7462.26;QD=20.11;RankSumP=0.187374;SB=-2708.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2592C>T;refseq.codonCoord=864;refseq.end=138382997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2980;refseq.name=NM_020119;refseq.name2=ZC3HAV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F864F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=143;refseq.start=138382997;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr7 138383037 . G A 227.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=1.29;MQ=99.00;MQ0=0;OQ=5600.93;QD=18.86;RankSumP=0.224279;SB=-1837.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2552C>T;refseq.codonCoord=851;refseq.end=138383037;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2940;refseq.name=NM_020119;refseq.name2=ZC3HAV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T851I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=103;refseq.start=138383037;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr7 138390577 . G C 254.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=6.43;MQ=99.10;MQ0=0;OQ=1896.20;QD=18.06;RankSumP=0.283819;SB=-429.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2101C>G;refseq.codonCoord=701;refseq.end=138390577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2489;refseq.name=NM_020119;refseq.name2=ZC3HAV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q701E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=138390577;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr7 138587278 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.598C>A;refseq.codonCoord=200;refseq.end=138587278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_173569;refseq.name2=UBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q200K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=37;refseq.start=138587278;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr7 138619493 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3302G>T;refseq.codonCoord=1101;refseq.end=138619493;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3302;refseq.name=NM_173569;refseq.name2=UBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1101V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-368;refseq.start=138619493;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr7 138676692 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=13.80;MQ=98.20;MQ0=0;OQ=1457.68;QD=13.37;RankSumP=0.156316;SB=-648.82;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.22T>G;refseq.codonCoord=8;refseq.end=138676692;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_197964;refseq.name2=C7orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.S8A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-117;refseq.start=138676692;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr7 138789490 . C G 40.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=99.96;QD=16.66;RankSumP=0.350000;SB=-56.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1016G>C;refseq.codonCoord=339;refseq.end=138789490;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_198508;refseq.name2=KLRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G339A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=11;refseq.start=138789490;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr7 138818474 . T G 29.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=95.54;MQ0=0;QD=2.97;RankSumP=0.0583333;SB=-32.97;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.455A>C;refseq.codonCoord=152;refseq.end=138818474;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_198508;refseq.name2=KLRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K152T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-303;refseq.start=138818474;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/0 chr7 138818603 . G A 86.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=93.58;MQ0=0;OQ=114.98;QD=14.37;RankSumP=1.00000;SB=-41.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.326C>T;refseq.codonCoord=109;refseq.end=138818603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_198508;refseq.name2=KLRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A109V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=395;refseq.start=138818603;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 1/1 chr7 139299665 . A C 110.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=11.52;MQ=98.72;MQ0=0;OQ=8032.27;QD=39.37;RankSumP=1.00000;SB=-3226.46;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.chr_6=chr7;refseq.codingCoordStr_2=c.483A>C;refseq.codingCoordStr_3=c.483A>C;refseq.codingCoordStr_4=c.621A>C;refseq.codingCoordStr_5=c.279A>C;refseq.codingCoordStr_6=c.483A>C;refseq.codonCoord_2=161;refseq.codonCoord_3=161;refseq.codonCoord_4=207;refseq.codonCoord_5=93;refseq.codonCoord_6=161;refseq.end_1=139299665;refseq.end_2=139299665;refseq.end_3=139299665;refseq.end_4=139299665;refseq.end_5=139299665;refseq.end_6=139299665;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=718;refseq.mrnaCoord_3=1021;refseq.mrnaCoord_4=856;refseq.mrnaCoord_5=768;refseq.mrnaCoord_6=718;refseq.name2_1=TBXAS1;refseq.name2_2=TBXAS1;refseq.name2_3=TBXAS1;refseq.name2_4=TBXAS1;refseq.name2_5=TBXAS1;refseq.name2_6=TBXAS1;refseq.name_1=NR_029394;refseq.name_2=NM_001061;refseq.name_3=NM_001130966;refseq.name_4=NM_001166253;refseq.name_5=NM_001166254;refseq.name_6=NM_030984;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.E161D;refseq.proteinCoordStr_3=p.E161D;refseq.proteinCoordStr_4=p.E207D;refseq.proteinCoordStr_5=p.E93D;refseq.proteinCoordStr_6=p.E161D;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.referenceCodon_6=GAA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.spliceDist_5=30;refseq.spliceDist_6=30;refseq.start_1=139299665;refseq.start_2=139299665;refseq.start_3=139299665;refseq.start_4=139299665;refseq.start_5=139299665;refseq.start_6=139299665;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;set=Intersection GT 1/1 chr7 139442968 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2230T>G;refseq.codonCoord=744;refseq.end=139442968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2234;refseq.name=NM_030647;refseq.name2=JHDM1D;refseq.positionType=CDS;refseq.proteinCoordStr=p.L744V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=65;refseq.start=139442968;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr7 139697560 . G A 134.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.55;MQ0=0;OQ=8440.16;QD=42.84;RankSumP=1.00000;SB=-2510.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.864C>T;refseq.codingCoordStr_2=c.864C>T;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=139697560;refseq.end_2=139697560;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1030;refseq.mrnaCoord_2=1030;refseq.name2_1=SLC37A3;refseq.name2_2=SLC37A3;refseq.name_1=NM_032295;refseq.name_2=NM_207113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C288C;refseq.proteinCoordStr_2=p.C288C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=139697560;refseq.start_2=139697560;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr7 139726556 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.88;MQ0=0;OQ=8946.12;QD=49.15;RankSumP=1.00000;SB=-2744.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.193G>C;refseq.codingCoordStr_2=c.193G>C;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=139726556;refseq.end_2=139726556;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=359;refseq.name2_1=SLC37A3;refseq.name2_2=SLC37A3;refseq.name_1=NM_032295;refseq.name_2=NM_207113;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V65L;refseq.proteinCoordStr_2=p.V65L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=139726556;refseq.start_2=139726556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr7 139904469 . T C 167.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=98.73;MQ0=0;OQ=7556.09;QD=36.50;RankSumP=1.00000;SB=-2959.41;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1902A>G;refseq.codonCoord=634;refseq.end=139904469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2047;refseq.name=NM_015689;refseq.name2=DENND2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S634S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=13;refseq.start=139904469;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr7 139913473 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=98.20;MQ0=0;OQ=1953.17;QD=14.05;RankSumP=0.0851006;SB=-852.52;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1661G>A;refseq.codonCoord=554;refseq.end=139913473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1806;refseq.name=NM_015689;refseq.name2=DENND2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R554Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=70;refseq.start=139913473;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr7 139948200 . G T 214.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=11.81;MQ=98.68;MQ0=0;OQ=10367.16;QD=36.38;RankSumP=1.00000;SB=-2492.15;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.467C>A;refseq.codonCoord=156;refseq.end=139948200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_015689;refseq.name2=DENND2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P156H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-529;refseq.start=139948200;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr7 141055044 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.77809e-06;SecondBestBaseQ=19;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.17T>G;refseq.codonCoord_2=6;refseq.end_1=141060447;refseq.end_2=141055044;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=423;refseq.name2_1=FLJ40852;refseq.name2_2=WEE2;refseq.name_1=NR_015392;refseq.name_2=NM_001105558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I6S;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_2=-326;refseq.start_1=141052037;refseq.start_2=141055044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=FilteredInAll GT 1/0 chr7 141067237 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=744;Dels=0.00;HRun=1;HaplotypeScore=18.75;MQ=98.83;MQ0=0;OQ=14581.97;QD=19.60;RankSumP=0.167456;SB=-5896.69;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.792A>G;refseq.codonCoord_2=264;refseq.end_1=141070174;refseq.end_2=141067237;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1198;refseq.name2_1=FLJ40852;refseq.name2_2=WEE2;refseq.name_1=NR_015392;refseq.name_2=NM_001105558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A264A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=34;refseq.start_1=141060654;refseq.start_2=141067237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr7 141111234 . C T 266.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=520;Dels=0.00;HRun=0;HaplotypeScore=8.44;MQ=98.81;MQ0=0;OQ=9970.71;QD=19.17;RankSumP=0.182971;SB=-3633.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.807C>T;refseq.codonCoord=269;refseq.end=141111234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_016943;refseq.name2=TAS2R3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G269G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-233;refseq.start=141111234;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr7 141124777 . T C 191.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=4.35;MQ=98.98;MQ0=0;OQ=2376.73;QD=15.95;RankSumP=0.479066;SB=-742.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.20T>C;refseq.codonCoord=7;refseq.end=141124777;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=20;refseq.name=NM_016944;refseq.name2=TAS2R4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F7S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=20;refseq.start=141124777;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr7 141125043 . G C 322.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=8.80;MQ=98.83;MQ0=0;OQ=7256.38;QD=21.47;RankSumP=0.336171;SB=-2994.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.286G>C;refseq.codonCoord=96;refseq.end=141125043;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_016944;refseq.name2=TAS2R4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V96L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=286;refseq.start=141125043;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr7 141125269 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1214;Dels=0.00;HRun=1;HaplotypeScore=19.12;MQ=98.86;MQ0=0;OQ=23308.30;QD=19.20;RankSumP=0.232141;SB=-9824.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.512G>A;refseq.codonCoord=171;refseq.end=141125269;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_016944;refseq.name2=TAS2R4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-389;refseq.start=141125269;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr7 141136707 . G T 104.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.65;MQ0=0;OQ=1271.24;QD=11.99;RankSumP=0.464064;SB=-553.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.77G>T;refseq.codonCoord=26;refseq.end=141136707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_018980;refseq.name2=TAS2R5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S26I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=222;refseq.start=141136707;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr7 141184204 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=403;Dels=0.00;HRun=3;HaplotypeScore=5.46;MQ=98.69;MQ0=0;OQ=7584.97;QD=18.82;RankSumP=0.00240987;SB=-3136.77;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.355A>C;refseq.codingCoordStr_2=c.355A>C;refseq.codonCoord_1=119;refseq.codonCoord_2=119;refseq.end_1=141184204;refseq.end_2=141184204;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=727;refseq.mrnaCoord_2=727;refseq.name2_1=PRSS37;refseq.name2_2=PRSS37;refseq.name_1=NM_001008270;refseq.name_2=NM_001171951;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T119P;refseq.proteinCoordStr_2=p.T119P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-73;refseq.start_1=141184204;refseq.start_2=141184204;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 1/0 chr7 141265755 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=343;Dels=0.00;HRun=1;HaplotypeScore=24.35;MQ=96.99;MQ0=0;OQ=315.98;QD=0.92;RankSumP=0.00000;SB=486.52;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.611T>G;refseq.codonCoord=204;refseq.end=141265755;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_001001656;refseq.name2=OR9A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V204G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-335;refseq.start=141265755;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr7 141319073 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=23.54;MQ=98.84;MQ0=0;OQ=5830.86;QD=12.57;RankSumP=0.158957;SB=-1072.46;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.886A>G;refseq.codonCoord=296;refseq.end=141319073;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_176817;refseq.name2=TAS2R38;refseq.positionType=CDS;refseq.proteinCoordStr=p.I296V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-174;refseq.start=141319073;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr7 141319174 . G A 184 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=1;HaplotypeScore=6.94;MQ=98.94;MQ0=0;OQ=7686.86;QD=23.08;RankSumP=0.374630;SB=-2035.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.785C>T;refseq.codonCoord=262;refseq.end=141319174;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_176817;refseq.name2=TAS2R38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A262V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-275;refseq.start=141319174;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr7 141319814 . C G 136.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=6.54;MQ=98.40;MQ0=0;OQ=6878.53;QD=23.88;RankSumP=0.0408048;SB=-2674.22;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.145G>C;refseq.codonCoord=49;refseq.end=141319814;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_176817;refseq.name2=TAS2R38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A49P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=229;refseq.start=141319814;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr7 141601605 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=436;Dels=0.00;HRun=3;HaplotypeScore=14.66;MQ=98.91;MQ0=0;OQ=8821.50;QD=20.23;RankSumP=0.105362;SB=-2924.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=141601605;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_001001317;refseq.name2=TRYX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K61K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=141601605;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr7 141603981 . G A 393.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=3910.62;QD=43.94;RankSumP=1.00000;SB=-1932.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.24C>T;refseq.codonCoord=8;refseq.end=141603981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_001001317;refseq.name2=TRYX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-17;refseq.start=141603981;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr7 142139394 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.396T>C;refseq.codonCoord=132;refseq.end=142139394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_002769;refseq.name2=PRSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P132P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-59;refseq.start=142139394;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 142274181 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1447A>C;refseq.codonCoord=483;refseq.end=142274181;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2234;refseq.name=NM_004445;refseq.name2=EPHB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T483P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=142274181;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 142347624 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=313;Dels=0.00;HRun=2;HaplotypeScore=18.74;MQ=98.04;MQ0=0;OQ=487.32;QD=1.56;RankSumP=0.00000;SB=423.36;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.272T>G;refseq.codonCoord=91;refseq.end=142347624;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_178829;refseq.name2=C7orf34;refseq.positionType=CDS;refseq.proteinCoordStr=p.V91G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=64;refseq.start=142347624;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 142348484 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2176T>C;refseq.codonCoord=726;refseq.end=142348484;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2386;refseq.name=NM_000420;refseq.name2=KEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S726P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=139;refseq.start=142348484;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 142433743 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.599T>G;refseq.codonCoord=200;refseq.end=142433743;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_001001658;refseq.name2=OR9A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-335;refseq.start=142433743;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr7 142546325 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=432;Dels=0.00;HRun=0;HaplotypeScore=13.27;MQ=98.77;MQ0=0;OQ=8594.57;QD=19.89;RankSumP=0.377885;SB=-2752.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.237A>T;refseq.codonCoord=79;refseq.end=142546325;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_002652;refseq.name2=PIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q79H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=36;refseq.start=142546325;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr7 142727929 . G T 421.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=98.88;MQ0=0;OQ=9425.65;QD=39.11;RankSumP=1.00000;SB=-3337.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.352G>T;refseq.codonCoord=118;refseq.end=142727929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_000083;refseq.name2=CLCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G118W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=51;refseq.start=142727929;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr7 142752959 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=97.23;MQ0=0;OQ=596.44;QD=12.69;RankSumP=0.131870;SB=-231.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2154C>T;refseq.codonCoord=718;refseq.end=142752959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2241;refseq.name=NM_000083;refseq.name2=CLCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D718D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-19;refseq.start=142752959;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr7 142753362 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=98.51;MQ0=0;OQ=1532.85;QD=11.35;RankSumP=0.334317;SB=-258.05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2180C>T;refseq.codonCoord=727;refseq.end=142753362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2267;refseq.name=NM_000083;refseq.name2=CLCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P727L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=142753362;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr7 142796132 . C T 103.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=243;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=98.39;MQ0=0;OQ=4778.44;QD=19.66;RankSumP=0.452425;SB=-1960.74;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1465C>T;refseq.codingCoordStr_2=c.1465C>T;refseq.codonCoord_1=489;refseq.codonCoord_2=489;refseq.end_1=142796132;refseq.end_2=142796132;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1620;refseq.mrnaCoord_2=1623;refseq.name2_1=ZYX;refseq.name2_2=ZYX;refseq.name_1=NM_001010972;refseq.name_2=NM_003461;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R489W;refseq.proteinCoordStr_2=p.R489W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=142796132;refseq.start_2=142796132;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr7 142798945 . T C 262.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=98.36;MQ0=0;OQ=4189.05;QD=17.98;RankSumP=0.382940;SB=-1335.17;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2742A>G;refseq.codonCoord=914;refseq.end=142798945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2829;refseq.name=NM_005232;refseq.name2=EPHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P914P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=46;refseq.start=142798945;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr7 142798989 . T C 142.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=222;Dels=0.00;HRun=2;HaplotypeScore=4.47;MQ=98.77;MQ0=0;OQ=4289.25;QD=19.32;RankSumP=0.484075;SB=-1351.44;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2698A>G;refseq.codonCoord=900;refseq.end=142798989;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2785;refseq.name=NM_005232;refseq.name2=EPHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M900V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=142798989;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr7 142803660 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.29;MQ0=0;OQ=1037.61;QD=14.82;RankSumP=0.389806;SB=-425.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1837C>T;refseq.codonCoord=613;refseq.end=142803660;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1924;refseq.name=NM_005232;refseq.name2=EPHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L613L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-61;refseq.start=142803660;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr7 142806931 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.770T>G;refseq.codonCoord=257;refseq.end=142806931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_005232;refseq.name2=EPHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V257G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-66;refseq.start=142806931;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr7 142807222 . A G 228.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.22;MQ0=0;OQ=1018.15;QD=16.97;RankSumP=0.196207;SB=-292.32;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.479T>C;refseq.codonCoord=160;refseq.end=142807222;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_005232;refseq.name2=EPHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V160A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=47;refseq.start=142807222;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr7 142851597 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=99.00;MQ0=0;OQ=711.43;QD=11.47;RankSumP=0.736272;SB=-20.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.930T>C;refseq.codonCoord=310;refseq.end=142851597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_177437;refseq.name2=TAS2R60;refseq.positionType=CDS;refseq.proteinCoordStr=p.R310R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-28;refseq.start=142851597;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr7 142885196 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.109C>G;refseq.codonCoord=37;refseq.end=142885196;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=109;refseq.name=NM_176883;refseq.name2=TAS2R41;refseq.positionType=CDS;refseq.proteinCoordStr=p.R37G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=109;refseq.start=142885196;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr7 142885276 . G A 315.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=97.77;MQ0=0;OQ=7194.46;QD=19.76;RankSumP=0.0733310;SB=-2972.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.189G>A;refseq.codonCoord=63;refseq.end=142885276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_176883;refseq.name2=TAS2R41;refseq.positionType=CDS;refseq.proteinCoordStr=p.T63T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=189;refseq.start=142885276;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr7 142885467 . C T 160.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=98.55;MQ0=0;OQ=1797.45;QD=15.23;RankSumP=0.0911691;SB=-809.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.380C>T;refseq.codonCoord=127;refseq.end=142885467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_176883;refseq.name2=TAS2R41;refseq.positionType=CDS;refseq.proteinCoordStr=p.P127L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=380;refseq.start=142885467;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr7 143031307 . A G 16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=872;Dels=0.00;HRun=0;HaplotypeScore=20.20;MQ=13.45;MQ0=646;OQ=676.65;QD=0.78;RankSumP=0.666667;SB=-122.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.287A>G;refseq.codingCoordStr_2=c.287A>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=143031307;refseq.end_2=143031307;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=356;refseq.name2_1=FAM115C;refseq.name2_2=FAM115C;refseq.name_1=NM_001130025;refseq.name_2=NM_173678;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H96R;refseq.proteinCoordStr_2=p.H96R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=301;refseq.spliceDist_2=301;refseq.start_1=143031307;refseq.start_2=143031307;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=filterInsoap-gatk GT 0/1 chr7 143048016 . T C 2 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=15.42;MQ=8.89;MQ0=324;OQ=56.98;QD=0.16;RankSumP=1.00000;SB=-46.95;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.931T>C;refseq.codingCoordStr_2=c.439T>C;refseq.codingCoordStr_3=c.931T>C;refseq.codonCoord_1=311;refseq.codonCoord_2=147;refseq.codonCoord_3=311;refseq.end_1=143048016;refseq.end_2=143048016;refseq.end_3=143048016;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1014;refseq.mrnaCoord_2=463;refseq.mrnaCoord_3=1000;refseq.name2_1=FAM115C;refseq.name2_2=FAM115C;refseq.name2_3=FAM115C;refseq.name_1=NM_001130025;refseq.name_2=NM_001130026;refseq.name_3=NM_173678;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C311R;refseq.proteinCoordStr_2=p.C147R;refseq.proteinCoordStr_3=p.C311R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=308;refseq.spliceDist_2=308;refseq.spliceDist_3=308;refseq.start_1=143048016;refseq.start_2=143048016;refseq.start_3=143048016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=filterInsoap-gatk GT 1/1 chr7 143187135 . C T 37.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=448;Dels=0.00;HRun=1;HaplotypeScore=7.83;MQ=6.19;MQ0=429;QD=0.08;RankSumP=0.428571;SB=-10.00;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2220G>A;refseq.codonCoord=740;refseq.end=143187135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2353;refseq.name=NM_014719;refseq.name2=FAM115A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E740E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=53;refseq.start=143187135;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 0/1 chr7 143332817 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=2;HaplotypeScore=11.12;MQ=98.76;MQ0=0;OQ=8784.31;QD=18.15;RankSumP=0.455980;SB=-2348.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.795C>T;refseq.codonCoord=265;refseq.end=143332817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_001005281;refseq.name2=OR6B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A265A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-142;refseq.start=143332817;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr7 143379297 . T C 263.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=8.50;MQ=98.91;MQ0=0;OQ=4856.99;QD=23.35;RankSumP=0.157990;SB=-1985.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.870T>C;refseq.codonCoord=290;refseq.end=143379297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_012365;refseq.name2=OR2A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y290Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-67;refseq.start=143379297;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr7 143402341 . G C 203.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=93.87;MQ0=1;OQ=3031.23;QD=16.84;RankSumP=0.422903;SB=-1334.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.96G>C;refseq.codonCoord=32;refseq.end=143402341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_001004488;refseq.name2=OR2A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.L32L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=96;refseq.start=143402341;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr7 143402469 . G A 281.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=4.17;MQ=95.70;MQ0=0;OQ=4223.14;QD=18.94;RankSumP=0.317014;SB=-1745.90;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.224G>A;refseq.codonCoord=75;refseq.end=143402469;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_001004488;refseq.name2=OR2A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S75N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=224;refseq.start=143402469;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr7 143402793 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.548T>G;refseq.codonCoord=183;refseq.end=143402793;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_001004488;refseq.name2=OR2A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.V183G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-386;refseq.start=143402793;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr7 143402870 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=272;Dels=0.00;HRun=2;HaplotypeScore=7.26;MQ=98.67;MQ0=0;OQ=5488.32;QD=20.18;RankSumP=0.489033;SB=-850.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.625G>C;refseq.codonCoord=209;refseq.end=143402870;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_001004488;refseq.name2=OR2A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.A209P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-309;refseq.start=143402870;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr7 143438448 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=89.54;MQ0=7;OQ=971.61;QD=12.46;RankSumP=0.0271477;SB=-217.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.840T>G;refseq.codonCoord=280;refseq.end=143438448;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_001005480;refseq.name2=OR2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F280L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-118;refseq.start=143438448;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr7 143438451 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=7.15;MQ=90.13;MQ0=7;OQ=1126.89;QD=13.58;RankSumP=0.393507;SB=-321.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.843T>C;refseq.codonCoord=281;refseq.end=143438451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_001005480;refseq.name2=OR2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N281N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-115;refseq.start=143438451;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr7 143457536 . G T 272.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=94.04;MQ0=1;OQ=6255.72;QD=16.91;RankSumP=0.383713;SB=-1818.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.398G>T;refseq.codonCoord=133;refseq.end=143457536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001001659;refseq.name2=OR2A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S133I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=398;refseq.start=143457536;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr7 143457630 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=4.09;MQ=90.74;MQ0=1;OQ=2231.05;QD=11.80;RankSumP=0.420952;SB=-852.59;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.492C>G;refseq.codonCoord=164;refseq.end=143457630;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_001001659;refseq.name2=OR2A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S164R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-442;refseq.start=143457630;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr7 143515036 . G A 148.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=6.72;MQ=59.61;MQ0=6;OQ=4094.57;QD=21.55;RankSumP=0.389435;SB=-1100.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1374C>T;refseq.codonCoord=458;refseq.end=143515036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1547;refseq.name=NM_001003702;refseq.name2=ARHGEF5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.C458C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-928;refseq.start=143515036;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr7 143646367 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=488;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=13.84;MQ0=448;OQ=852.53;QD=1.75;RankSumP=1.00000;SB=-91.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.199A>G;refseq.codingCoordStr_2=c.217A>G;refseq.codonCoord_1=67;refseq.codonCoord_2=73;refseq.end_1=143646367;refseq.end_2=143646367;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=199;refseq.mrnaCoord_2=217;refseq.name2_1=OR2A42;refseq.name2_2=OR2A1;refseq.name_1=NM_001001802;refseq.name_2=NM_001005287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T67A;refseq.proteinCoordStr_2=p.T73A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=199;refseq.spliceDist_2=217;refseq.start_1=143646367;refseq.start_2=143646367;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr7 143646370 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=15.36;MQ=15.84;MQ0=443;OQ=1942.84;QD=3.82;RankSumP=1.00000;SB=-202.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.202C>T;refseq.codingCoordStr_2=c.220C>T;refseq.codonCoord_1=68;refseq.codonCoord_2=74;refseq.end_1=143646370;refseq.end_2=143646370;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=202;refseq.mrnaCoord_2=220;refseq.name2_1=OR2A42;refseq.name2_2=OR2A1;refseq.name_1=NM_001001802;refseq.name_2=NM_001005287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R68C;refseq.proteinCoordStr_2=p.R74C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=202;refseq.spliceDist_2=220;refseq.start_1=143646370;refseq.start_2=143646370;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr7 143646591 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.633333;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.423C>T;refseq.codingCoordStr_2=c.441C>T;refseq.codonCoord_1=141;refseq.codonCoord_2=147;refseq.end_1=143646591;refseq.end_2=143646591;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=441;refseq.name2_1=OR2A42;refseq.name2_2=OR2A1;refseq.name_1=NM_001001802;refseq.name_2=NM_001005287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S141S;refseq.proteinCoordStr_2=p.S147S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=423;refseq.spliceDist_2=441;refseq.start_1=143646591;refseq.start_2=143646591;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=soap GT 0/1 chr7 143646653 . C G 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=752;Dels=0.00;HRun=0;HaplotypeScore=20.17;MQ=0.91;MQ0=751;QD=0.03;RankSumP=0.513864;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.485C>G;refseq.codingCoordStr_2=c.503C>G;refseq.codonCoord_1=162;refseq.codonCoord_2=168;refseq.end_1=143646653;refseq.end_2=143646653;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=485;refseq.mrnaCoord_2=503;refseq.name2_1=OR2A42;refseq.name2_2=OR2A1;refseq.name_1=NM_001001802;refseq.name_2=NM_001005287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S162C;refseq.proteinCoordStr_2=p.S168C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-431;refseq.spliceDist_2=-431;refseq.start_1=143646653;refseq.start_2=143646653;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap-filterIngatk GT 1/0 chr7 143691128 . A G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.459130;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.433A>G;refseq.codonCoord=145;refseq.end=143691128;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S145G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=445;refseq.start=143691128;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr7 143691290 . T G 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.659687;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.595T>G;refseq.codonCoord=199;refseq.end=143691290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=607;refseq.start=143691290;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr7 143691329 . C T 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.306694;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.634C>T;refseq.codonCoord=212;refseq.end=143691329;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P212S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=646;refseq.start=143691329;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 0/1 chr7 143691502 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.476612;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.807G>A;refseq.codonCoord=269;refseq.end=143691502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K269K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=819;refseq.start=143691502;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr7 143691703 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.228237;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1008T>C;refseq.codonCoord=336;refseq.end=143691703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N336N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1020;refseq.start=143691703;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr7 143691735 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=13.35;MQ=16.47;MQ0=243;OQ=4966.14;QD=11.06;RankSumP=3.41870e-05;SB=-1236.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1040C>T;refseq.codonCoord=347;refseq.end=143691735;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1158;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T347I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1052;refseq.start=143691735;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 0/1 chr7 143691810 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.541411;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1115G>T;refseq.codonCoord=372;refseq.end=143691810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S372I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1127;refseq.start=143691810;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 0/1 chr7 143692155 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1460A>G;refseq.codonCoord=487;refseq.end=143692155;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E487G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1472;refseq.start=143692155;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/1 chr7 143701271 . A G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.833333;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.4101A>G;refseq.codonCoord=1367;refseq.end=143701271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4219;refseq.name=NM_005435;refseq.name2=ARHGEF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1367E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-40;refseq.start=143701271;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr7 146814054 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=61;Dels=0.00;HRun=2;HaplotypeScore=6.35;MQ=95.15;MQ0=0;OQ=105.92;QD=1.74;RankSumP=0.500003;SB=32.13;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1765A>C;refseq.codonCoord=589;refseq.end=146814054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2281;refseq.name=NM_014141;refseq.name2=CNTNAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T589P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=146814054;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr7 147305922 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2291A>C;refseq.codonCoord=764;refseq.end=147305922;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2807;refseq.name=NM_014141;refseq.name2=CNTNAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H764P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=36;refseq.start=147305922;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 147737423 . G A 397.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.62;MQ0=0;OQ=4827.87;QD=41.98;RankSumP=1.00000;SB=-1122.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.3723G>A;refseq.codonCoord=1241;refseq.end=147737423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4239;refseq.name=NM_014141;refseq.name2=CNTNAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1241A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=147737423;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr7 148111905 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1181C>G;refseq.codonCoord=394;refseq.end=148111905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_003592;refseq.name2=CUL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A394G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-11;refseq.start=148111905;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr7 148347081 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.411C>A;refseq.codonCoord=137;refseq.end=148347081;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_004911;refseq.name2=PDIA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y137*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-65;refseq.start=148347081;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr7 148431648 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2248T>C;refseq.codonCoord=750;refseq.end=148431648;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2321;refseq.name=NM_001001661;refseq.name2=ZNF425;refseq.positionType=CDS;refseq.proteinCoordStr=p.S750P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-838;refseq.start=148431648;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 148432024 . G A 132.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=557;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=98.84;MQ0=0;OQ=21922.83;QD=39.36;RankSumP=1.00000;SB=-9548.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1872C>T;refseq.codonCoord=624;refseq.end=148432024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1945;refseq.name=NM_001001661;refseq.name2=ZNF425;refseq.positionType=CDS;refseq.proteinCoordStr=p.N624N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1214;refseq.start=148432024;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr7 148432591 . C T 253.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.37;MQ0=0;OQ=8908.12;QD=39.59;RankSumP=1.00000;SB=-3621.15;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1305G>A;refseq.codonCoord=435;refseq.end=148432591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_001001661;refseq.name2=ZNF425;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q435Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1001;refseq.start=148432591;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr7 148482146 . G A 434.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.65;MQ0=0;OQ=4506.25;QD=39.53;RankSumP=1.00000;SB=-1168.33;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.-313G>A;refseq.codingCoordStr_2=c.201G>A;refseq.codonCoord_2=67;refseq.end_1=148482146;refseq.end_2=148482146;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=539;refseq.mrnaCoord_2=476;refseq.name2_1=ZNF398;refseq.name2_2=ZNF398;refseq.name_1=NM_020781;refseq.name_2=NM_170686;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L67L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.start_1=148482146;refseq.start_2=148482146;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr7 148507375 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.965A>C;refseq.codingCoordStr_2=c.1478A>C;refseq.codonCoord_1=322;refseq.codonCoord_2=493;refseq.end_1=148507375;refseq.end_2=148507375;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1816;refseq.mrnaCoord_2=1753;refseq.name2_1=ZNF398;refseq.name2_2=ZNF398;refseq.name_1=NM_020781;refseq.name_2=NM_170686;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N322T;refseq.proteinCoordStr_2=p.N493T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=703;refseq.spliceDist_2=703;refseq.start_1=148507375;refseq.start_2=148507375;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr7 148552665 . G A 38.24 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=9.56;RankSumP=0.333333;SB=-6.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2009G>A;refseq.codonCoord=670;refseq.end=148552665;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2114;refseq.name=NM_003575;refseq.name2=ZNF282;refseq.positionType=CDS;refseq.proteinCoordStr=p.R670Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=829;refseq.start=148552665;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr7 148567811 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0500000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.9G>T;refseq.codonCoord=3;refseq.end=148567811;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=105;refseq.name=NM_012256;refseq.name2=ZNF212;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-16;refseq.start=148567811;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr7 148581958 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=9.22043e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1007G>C;refseq.codonCoord=336;refseq.end=148581958;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_012256;refseq.name2=ZNF212;refseq.positionType=CDS;refseq.proteinCoordStr=p.R336P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=376;refseq.start=148581958;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 148783703 . A G 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=134.29;QD=7.90;RankSumP=0.481283;SB=-76.34;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.344T>C;refseq.codonCoord=115;refseq.end=148783703;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_015694;refseq.name2=ZNF777;refseq.positionType=CDS;refseq.proteinCoordStr=p.V115A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=359;refseq.start=148783703;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr7 148783839 . G A 311.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.85;MQ0=0;OQ=2369.60;QD=18.23;RankSumP=0.0483603;SB=-1106.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.208C>T;refseq.codonCoord=70;refseq.end=148783839;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_015694;refseq.name2=ZNF777;refseq.positionType=CDS;refseq.proteinCoordStr=p.R70W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=223;refseq.start=148783839;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr7 148783990 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=162;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.44;MQ0=0;OQ=2939.70;QD=18.15;RankSumP=0.0988022;SB=-1208.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.57C>G;refseq.codonCoord=19;refseq.end=148783990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_015694;refseq.name2=ZNF777;refseq.positionType=CDS;refseq.proteinCoordStr=p.T19T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=72;refseq.start=148783990;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr7 148822252 . C T 0.07 PASS AC=1;AF=0.50;AN=2;DP=192;Dels=0.00;HRun=0;HaplotypeScore=14.70;MQ=57.54;MQ0=46;OQ=526.50;QD=2.74;SB=-14.64;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.300G>A;refseq.codingCoordStr_2=c.300G>A;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=148822252;refseq.end_2=148822252;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=571;refseq.name2_1=ZNF746;refseq.name2_2=ZNF746;refseq.name_1=NM_001163474;refseq.name_2=NM_152557;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P100P;refseq.proteinCoordStr_2=p.P100P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=148822252;refseq.start_2=148822252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=gatk GT:AD:DP:GL:GQ 0/1:134,36:97:-85.16,-29.22,-301.28:99 chr7 148947995 . C T 295.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=54.29;MQ0=6;OQ=2507.66;QD=15.67;RankSumP=0.477541;SB=-1181.13;SecondBestBaseQ=30;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=148947995;refseq.end_2=148947995;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=616;refseq.mrnaCoord_2=743;refseq.name2_1=ZNF767;refseq.name2_2=ZNF767;refseq.name_1=NR_027788;refseq.name_2=NR_027789;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=148947995;refseq.start_2=148947995;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr7 148949308 . C T 128.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=6.68;MQ=70.59;MQ0=5;OQ=2097.90;QD=22.32;RankSumP=1.00000;SB=-470.57;SecondBestBaseQ=3;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=148949308;refseq.end_2=148949308;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=525;refseq.mrnaCoord_2=525;refseq.name2_1=ZNF767;refseq.name2_2=ZNF767;refseq.name_1=NR_027788;refseq.name_2=NR_027789;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=148949308;refseq.start_2=148949308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr7 148949342 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=8.73;MQ=53.92;MQ0=18;OQ=285.79;QD=2.86;RankSumP=0.288027;SB=60.68;SecondBestBaseQ=20;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=148949342;refseq.end_2=148949342;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=ZNF767;refseq.name2_2=ZNF767;refseq.name_1=NR_027788;refseq.name_2=NR_027789;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=148949342;refseq.start_2=148949342;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr7 148949468 . G C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.722222;SecondBestBaseQ=18;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=148949468;refseq.end_2=148949468;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=365;refseq.name2_1=ZNF767;refseq.name2_2=ZNF767;refseq.name_1=NR_027788;refseq.name_2=NR_027789;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.start_1=148949468;refseq.start_2=148949468;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr7 148952576 . G A 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=21;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=94.04;MQ0=0;OQ=173.83;QD=8.28;RankSumP=0.537627;SB=-69.08;SecondBestBaseQ=28;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.end_1=148952576;refseq.end_2=148952576;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=239;refseq.mrnaCoord_2=239;refseq.name2_1=ZNF767;refseq.name2_2=ZNF767;refseq.name_1=NR_027788;refseq.name_2=NR_027789;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=148952576;refseq.start_2=148952576;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr7 149664919 . C G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=4.80682e-07;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.36C>G;refseq.codingCoordStr_2=c.36C>G;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=149664919;refseq.end_2=149664919;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=704;refseq.mrnaCoord_2=534;refseq.name2_1=LRRC61;refseq.name2_2=LRRC61;refseq.name_1=NM_001142928;refseq.name_2=NM_023942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G12G;refseq.proteinCoordStr_2=p.G12G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=180;refseq.spliceDist_2=180;refseq.start_1=149664919;refseq.start_2=149664919;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr7 149664922 . A G 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=2.48056e-08;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.39A>G;refseq.codingCoordStr_2=c.39A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=149664922;refseq.end_2=149664922;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=707;refseq.mrnaCoord_2=537;refseq.name2_1=LRRC61;refseq.name2_2=LRRC61;refseq.name_1=NM_001142928;refseq.name_2=NM_023942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G13G;refseq.proteinCoordStr_2=p.G13G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=183;refseq.spliceDist_2=183;refseq.start_1=149664922;refseq.start_2=149664922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr7 149724634 . A C 108.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=94.79;MQ0=0;OQ=1756.89;QD=24.74;RankSumP=1.00000;SB=-521.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.132A>C;refseq.codonCoord=44;refseq.end=149724634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_173680;refseq.name2=ZNF775;refseq.positionType=CDS;refseq.proteinCoordStr=p.I44I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=101;refseq.start=149724634;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr7 149725786 . G A 13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=89.73;MQ0=0;OQ=172.76;QD=24.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1284G>A;refseq.codonCoord=428;refseq.end=149725786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1409;refseq.name=NM_173680;refseq.name2=ZNF775;refseq.positionType=CDS;refseq.proteinCoordStr=p.T428T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-867;refseq.start=149725786;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/1 chr7 149805247 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1444A>G;refseq.codonCoord=482;refseq.end=149805247;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1774;refseq.name=NM_175571;refseq.name2=GIMAP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R482G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=135;refseq.start=149805247;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr7 149848181 . A G 311.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=5.30;MQ=98.78;MQ0=0;OQ=6101.35;QD=37.66;RankSumP=1.00000;SB=-2225.92;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.186A>G;refseq.codonCoord=62;refseq.end=149848181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_153236;refseq.name2=GIMAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V62V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=227;refseq.start=149848181;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr7 149848268 . G T 332.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.94;MQ0=0;OQ=3228.29;QD=19.22;RankSumP=0.290565;SB=-1279.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.273G>T;refseq.codonCoord=91;refseq.end=149848268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_153236;refseq.name2=GIMAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G91G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=314;refseq.start=149848268;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr7 149900475 . G T 352.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=11.00;MQ=99.00;MQ0=0;OQ=5123.63;QD=19.63;RankSumP=0.0923217;SB=-1993.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.384G>T;refseq.codonCoord=128;refseq.end=149900475;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_018326;refseq.name2=GIMAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E128D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=326;refseq.start=149900475;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr7 150020526 . T C 277.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.89;MQ0=0;OQ=4486.58;QD=21.47;RankSumP=0.126976;SB=-1427.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.219T>C;refseq.codonCoord=73;refseq.end=150020526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_015660;refseq.name2=GIMAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I73I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=191;refseq.start=150020526;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr7 150020789 . A G 355.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.85;MQ0=0;OQ=4076.21;QD=17.88;RankSumP=0.308305;SB=-1516.61;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.482A>G;refseq.codonCoord=161;refseq.end=150020789;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=570;refseq.name=NM_015660;refseq.name2=GIMAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H161R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=454;refseq.start=150020789;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr7 150070433 . C T 168.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=21.10;MQ=98.44;MQ0=0;OQ=6862.45;QD=18.60;RankSumP=0.0663863;SB=-2864.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.273C>T;refseq.codonCoord=91;refseq.end=150070433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_018384;refseq.name2=GIMAP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A91A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=230;refseq.start=150070433;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr7 150070918 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=251;Dels=0.00;HRun=2;HaplotypeScore=24.46;MQ=97.98;MQ0=0;OQ=208.79;QD=0.83;RankSumP=0.00000;SB=287.94;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.758T>G;refseq.codonCoord=253;refseq.end=150070918;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_018384;refseq.name2=GIMAP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V253G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=715;refseq.start=150070918;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 150070976 . C T 138.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=9.12;MQ=98.11;MQ0=0;OQ=4094.21;QD=18.61;RankSumP=0.437546;SB=-934.38;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.816C>T;refseq.codonCoord=272;refseq.end=150070976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_018384;refseq.name2=GIMAP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L272L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-694;refseq.start=150070976;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr7 150121309 . C T 119.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.72;MQ0=0;OQ=1370.86;QD=13.06;RankSumP=0.382345;SB=-285.24;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.400G>A;refseq.codingCoordStr_2=c.400G>A;refseq.codingCoordStr_3=c.400G>A;refseq.codingCoordStr_4=c.289G>A;refseq.codingCoordStr_5=c.400G>A;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.codonCoord_3=134;refseq.codonCoord_4=97;refseq.codonCoord_5=134;refseq.end_1=150121309;refseq.end_2=150121309;refseq.end_3=150121309;refseq.end_4=150121309;refseq.end_5=150121309;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=649;refseq.mrnaCoord_2=641;refseq.mrnaCoord_3=566;refseq.mrnaCoord_4=530;refseq.mrnaCoord_5=773;refseq.name2_1=TMEM176B;refseq.name2_2=TMEM176B;refseq.name2_3=TMEM176B;refseq.name2_4=TMEM176B;refseq.name2_5=TMEM176B;refseq.name_1=NM_001101311;refseq.name_2=NM_001101312;refseq.name_3=NM_001101313;refseq.name_4=NM_001101314;refseq.name_5=NM_014020;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A134T;refseq.proteinCoordStr_2=p.A134T;refseq.proteinCoordStr_3=p.A134T;refseq.proteinCoordStr_4=p.A97T;refseq.proteinCoordStr_5=p.A134T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=28;refseq.spliceDist_5=28;refseq.start_1=150121309;refseq.start_2=150121309;refseq.start_3=150121309;refseq.start_4=150121309;refseq.start_5=150121309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 0/1 chr7 150122017 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=10.21;MQ=98.33;MQ0=0;OQ=1287.29;QD=12.03;RankSumP=0.102567;SB=-507.61;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_2=c.280A>C;refseq.codingCoordStr_3=c.280A>C;refseq.codingCoordStr_4=c.280A>C;refseq.codingCoordStr_5=c.280A>C;refseq.codonCoord_2=94;refseq.codonCoord_3=94;refseq.codonCoord_4=94;refseq.codonCoord_5=94;refseq.end_1=150124376;refseq.end_2=150122017;refseq.end_3=150122017;refseq.end_4=150122017;refseq.end_5=150122017;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=529;refseq.mrnaCoord_3=521;refseq.mrnaCoord_4=446;refseq.mrnaCoord_5=653;refseq.name2_1=TMEM176B;refseq.name2_2=TMEM176B;refseq.name2_3=TMEM176B;refseq.name2_4=TMEM176B;refseq.name2_5=TMEM176B;refseq.name_1=NM_001101314;refseq.name_2=NM_001101311;refseq.name_3=NM_001101312;refseq.name_4=NM_001101313;refseq.name_5=NM_014020;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S94R;refseq.proteinCoordStr_3=p.S94R;refseq.proteinCoordStr_4=p.S94R;refseq.proteinCoordStr_5=p.S94R;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.referenceCodon_5=AGT;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.start_1=150121632;refseq.start_2=150122017;refseq.start_3=150122017;refseq.start_4=150122017;refseq.start_5=150122017;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;refseq.variantCodon_5=CGT;set=Intersection GT 1/0 chr7 150124428 . G A 122.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.96;MQ0=0;OQ=971.87;QD=12.79;RankSumP=0.426665;SB=-499.48;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.chr_5=chr7;refseq.codingCoordStr_1=c.163C>T;refseq.codingCoordStr_2=c.163C>T;refseq.codingCoordStr_3=c.163C>T;refseq.codingCoordStr_4=c.163C>T;refseq.codingCoordStr_5=c.163C>T;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.codonCoord_3=55;refseq.codonCoord_4=55;refseq.codonCoord_5=55;refseq.end_1=150124428;refseq.end_2=150124428;refseq.end_3=150124428;refseq.end_4=150124428;refseq.end_5=150124428;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=404;refseq.mrnaCoord_3=329;refseq.mrnaCoord_4=404;refseq.mrnaCoord_5=536;refseq.name2_1=TMEM176B;refseq.name2_2=TMEM176B;refseq.name2_3=TMEM176B;refseq.name2_4=TMEM176B;refseq.name2_5=TMEM176B;refseq.name_1=NM_001101311;refseq.name_2=NM_001101312;refseq.name_3=NM_001101313;refseq.name_4=NM_001101314;refseq.name_5=NM_014020;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P55S;refseq.proteinCoordStr_2=p.P55S;refseq.proteinCoordStr_3=p.P55S;refseq.proteinCoordStr_4=p.P55S;refseq.proteinCoordStr_5=p.P55S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.spliceDist_5=-42;refseq.start_1=150124428;refseq.start_2=150124428;refseq.start_3=150124428;refseq.start_4=150124428;refseq.start_5=150124428;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;set=Intersection GT 1/0 chr7 150129742 . G A 14.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=87.90;QD=29.30;RankSumP=1.00000;SB=-53.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.171G>A;refseq.codonCoord=57;refseq.end=150129742;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_018487;refseq.name2=TMEM176A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=150129742;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/1 chr7 150131453 . C T 148.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=98.75;MQ0=0;OQ=2675.28;QD=14.23;RankSumP=0.0807586;SB=-1128.23;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.318C>T;refseq.codonCoord=106;refseq.end=150131453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_018487;refseq.name2=TMEM176A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y106Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-25;refseq.start=150131453;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr7 150131662 . A G 354.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=389;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.76;MQ0=0;OQ=7973.03;QD=20.50;RankSumP=0.401440;SB=-2005.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.364A>G;refseq.codonCoord=122;refseq.end=150131662;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_018487;refseq.name2=TMEM176A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T122A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=22;refseq.start=150131662;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr7 150131730 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.432C>A;refseq.codonCoord=144;refseq.end=150131730;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_018487;refseq.name2=TMEM176A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y144*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=90;refseq.start=150131730;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr7 150132449 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=628;Dels=0.00;HRun=1;HaplotypeScore=14.97;MQ=98.87;MQ0=0;OQ=10857.91;QD=17.29;RankSumP=0.296653;SB=-4247.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.622A>G;refseq.codonCoord=208;refseq.end=150132449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_018487;refseq.name2=TMEM176A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T208A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-45;refseq.start=150132449;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr7 150186063 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr7;refseq.codingCoordStr=c.1570+2;refseq.end=150186063;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001091;refseq.name2=ABP1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=150186063;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr7 150186935 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=8.31;MQ=98.07;MQ0=0;OQ=800.99;QD=13.13;RankSumP=0.751550;SB=-181.89;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1722T>C;refseq.codonCoord=574;refseq.end=150186935;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_001091;refseq.name2=ABP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P574P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-135;refseq.start=150186935;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr7 150186988 . C G 112.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=96.90;MQ0=0;OQ=1773.72;QD=35.47;RankSumP=1.00000;SB=-508.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1775C>G;refseq.codonCoord=592;refseq.end=150186988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1865;refseq.name=NM_001091;refseq.name2=ABP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T592R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-82;refseq.start=150186988;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr7 150186989 . G C 166.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=96.98;MQ0=0;OQ=1944.61;QD=37.40;RankSumP=1.00000;SB=-735.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1776G>C;refseq.codonCoord=592;refseq.end=150186989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1866;refseq.name=NM_001091;refseq.name2=ABP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T592T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-81;refseq.start=150186989;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 150189027 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2053A>C;refseq.codonCoord=685;refseq.end=150189027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_001091;refseq.name2=ABP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T685P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=64;refseq.start=150189027;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr7 150279131 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=18.00;MQ=97.95;MQ0=0;OQ=2029.32;QD=12.15;RankSumP=0.270317;SB=-695.72;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1956T>C;refseq.codingCoordStr_2=c.1956T>C;refseq.codingCoordStr_3=c.936T>C;refseq.codonCoord_1=652;refseq.codonCoord_2=652;refseq.codonCoord_3=312;refseq.end_1=150279131;refseq.end_2=150279131;refseq.end_3=150279131;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1969;refseq.mrnaCoord_2=1969;refseq.mrnaCoord_3=1260;refseq.name2_1=KCNH2;refseq.name2_2=KCNH2;refseq.name2_3=KCNH2;refseq.name_1=NM_000238;refseq.name_2=NM_172056;refseq.name_3=NM_172057;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y652Y;refseq.proteinCoordStr_2=p.Y652Y;refseq.proteinCoordStr_3=p.Y312Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=150279131;refseq.start_2=150279131;refseq.start_3=150279131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chr7 150279722 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=22.00;MQ=97.16;MQ0=0;OQ=2183.53;QD=16.29;RankSumP=0.367005;SB=-654.69;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1692A>G;refseq.codingCoordStr_2=c.1692A>G;refseq.codingCoordStr_3=c.672A>G;refseq.codonCoord_1=564;refseq.codonCoord_2=564;refseq.codonCoord_3=224;refseq.end_1=150279722;refseq.end_2=150279722;refseq.end_3=150279722;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1705;refseq.mrnaCoord_2=1705;refseq.mrnaCoord_3=996;refseq.name2_1=KCNH2;refseq.name2_2=KCNH2;refseq.name2_3=KCNH2;refseq.name_1=NM_000238;refseq.name_2=NM_172056;refseq.name_3=NM_172057;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L564L;refseq.proteinCoordStr_2=p.L564L;refseq.proteinCoordStr_3=p.L224L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.start_1=150279722;refseq.start_2=150279722;refseq.start_3=150279722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr7 150279816 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1598T>G;refseq.codingCoordStr_2=c.1598T>G;refseq.codingCoordStr_3=c.578T>G;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.codonCoord_3=193;refseq.end_1=150279816;refseq.end_2=150279816;refseq.end_3=150279816;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1611;refseq.mrnaCoord_2=1611;refseq.mrnaCoord_3=902;refseq.name2_1=KCNH2;refseq.name2_2=KCNH2;refseq.name2_3=KCNH2;refseq.name_1=NM_000238;refseq.name_2=NM_172056;refseq.name_3=NM_172057;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V533G;refseq.proteinCoordStr_2=p.V533G;refseq.proteinCoordStr_3=p.V193G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.start_1=150279816;refseq.start_2=150279816;refseq.start_3=150279816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr7 150326659 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=96.71;MQ0=0;OQ=446.74;QD=7.70;RankSumP=0.713274;SB=-125.29;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.774T>C;refseq.codingCoordStr_2=c.774T>C;refseq.codingCoordStr_3=c.774T>C;refseq.codingCoordStr_4=c.774T>C;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.codonCoord_3=258;refseq.codonCoord_4=258;refseq.end_1=150326659;refseq.end_2=150326659;refseq.end_3=150326659;refseq.end_4=150326659;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=774;refseq.mrnaCoord_3=774;refseq.mrnaCoord_4=774;refseq.name2_1=NOS3;refseq.name2_2=NOS3;refseq.name2_3=NOS3;refseq.name2_4=NOS3;refseq.name_1=NM_000603;refseq.name_2=NM_001160109;refseq.name_3=NM_001160110;refseq.name_4=NM_001160111;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D258D;refseq.proteinCoordStr_2=p.D258D;refseq.proteinCoordStr_3=p.D258D;refseq.proteinCoordStr_4=p.D258D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=150326659;refseq.start_2=150326659;refseq.start_3=150326659;refseq.start_4=150326659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/0 chr7 150327044 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.22;MQ0=0;OQ=1591.44;QD=12.34;RankSumP=0.0837646;SB=-316.95;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.894T>G;refseq.codingCoordStr_2=c.894T>G;refseq.codingCoordStr_3=c.894T>G;refseq.codingCoordStr_4=c.894T>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.codonCoord_3=298;refseq.codonCoord_4=298;refseq.end_1=150327044;refseq.end_2=150327044;refseq.end_3=150327044;refseq.end_4=150327044;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1190;refseq.mrnaCoord_2=894;refseq.mrnaCoord_3=894;refseq.mrnaCoord_4=894;refseq.name2_1=NOS3;refseq.name2_2=NOS3;refseq.name2_3=NOS3;refseq.name2_4=NOS3;refseq.name_1=NM_000603;refseq.name_2=NM_001160109;refseq.name_3=NM_001160110;refseq.name_4=NM_001160111;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D298E;refseq.proteinCoordStr_2=p.D298E;refseq.proteinCoordStr_3=p.D298E;refseq.proteinCoordStr_4=p.D298E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.spliceDist_4=-63;refseq.start_1=150327044;refseq.start_2=150327044;refseq.start_3=150327044;refseq.start_4=150327044;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 1/0 chr7 150327323 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.codingCoordStr_1=c.1069T>G;refseq.codingCoordStr_2=c.1069T>G;refseq.codingCoordStr_3=c.1069T>G;refseq.codingCoordStr_4=c.1069T>G;refseq.codonCoord_1=357;refseq.codonCoord_2=357;refseq.codonCoord_3=357;refseq.codonCoord_4=357;refseq.end_1=150327323;refseq.end_2=150327323;refseq.end_3=150327323;refseq.end_4=150327323;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1365;refseq.mrnaCoord_2=1069;refseq.mrnaCoord_3=1069;refseq.mrnaCoord_4=1069;refseq.name2_1=NOS3;refseq.name2_2=NOS3;refseq.name2_3=NOS3;refseq.name2_4=NOS3;refseq.name_1=NM_000603;refseq.name_2=NM_001160109;refseq.name_3=NM_001160110;refseq.name_4=NM_001160111;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y357D;refseq.proteinCoordStr_2=p.Y357D;refseq.proteinCoordStr_3=p.Y357D;refseq.proteinCoordStr_4=p.Y357D;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.spliceDist_4=-63;refseq.start_1=150327323;refseq.start_2=150327323;refseq.start_3=150327323;refseq.start_4=150327323;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 1/0 chr7 150335183 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=13.51;MQ=97.96;MQ0=0;OQ=4725.02;QD=18.46;RankSumP=0.0284961;SB=-1563.05;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1998C>G;refseq.codonCoord=666;refseq.end=150335183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2294;refseq.name=NM_000603;refseq.name2=NOS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A666A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=61;refseq.start=150335183;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr7 150344835 . G C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=18;set=FilteredInAll GT 0/1 chr7 150346750 . A G 151.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=92.63;MQ0=0;OQ=706.39;QD=33.64;RankSumP=1.00000;SB=-48.96;SecondBestBaseQ=0;set=Intersection GT 1/1 chr7 150392247 . G A 343.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=98.59;MQ0=0;OQ=3015.64;QD=18.06;RankSumP=0.228477;SB=-1364.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.77G>A;refseq.codonCoord=26;refseq.end=150392247;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G26E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=26;refseq.start=150392247;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr7 150392549 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.221A>C;refseq.codonCoord=74;refseq.end=150392549;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H74P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=150392549;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr7 150392613 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=11.96;MQ=97.31;MQ0=0;OQ=961.59;QD=15.51;RankSumP=0.532045;SB=-273.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.285C>A;refseq.codonCoord=95;refseq.end=150392613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R95R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=68;refseq.start=150392613;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr7 150395998 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.01;MQ0=0;OQ=1254.33;QD=29.17;RankSumP=1.00000;SB=-51.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1071T>C;refseq.codonCoord=357;refseq.end=150395998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T357T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-77;refseq.start=150395998;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 150399719 . G A 387.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.80;MQ0=0;OQ=1511.82;QD=39.78;RankSumP=1.00000;SB=-747.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2202G>A;refseq.codonCoord=734;refseq.end=150399719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2458;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T734T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=11;refseq.start=150399719;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr7 150402291 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2768A>C;refseq.codonCoord=923;refseq.end=150402291;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3024;refseq.name=NM_003040;refseq.name2=SLC4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N923T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-23;refseq.start=150402291;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 150446598 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.915G>C;refseq.codingCoordStr_2=c.915G>C;refseq.codonCoord_1=305;refseq.codonCoord_2=305;refseq.end_1=150446598;refseq.end_2=150446598;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=918;refseq.mrnaCoord_2=918;refseq.name2_1=AGAP3;refseq.name2_2=AGAP3;refseq.name_1=NM_001042535;refseq.name_2=NM_031946;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S305S;refseq.proteinCoordStr_2=p.S305S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=150446598;refseq.start_2=150446598;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr7 150462506 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=2;RankSumP=0.00000;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1413A>C;refseq.codonCoord=471;refseq.end=150462506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1416;refseq.name=NM_031946;refseq.name2=AGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T471T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-83;refseq.start=150462506;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr7 150495260 . G T 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=94.70;MQ0=0;QD=2.19;RankSumP=0.528571;SB=-27.92;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.309C>A;refseq.codonCoord=103;refseq.end=150495260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_001098834;refseq.name2=GBX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T103T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-230;refseq.start=150495260;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 0/1 chr7 150543683 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=826;Dels=0.00;HRun=2;HaplotypeScore=20.13;MQ=98.87;MQ0=0;OQ=13651.54;QD=16.53;RankSumP=0.329652;SB=-3442.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1470C>A;refseq.codingCoordStr_2=c.1470C>A;refseq.codonCoord_1=490;refseq.codonCoord_2=490;refseq.end_1=150543683;refseq.end_2=150543683;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1581;refseq.mrnaCoord_2=1581;refseq.name2_1=ABCF2;refseq.name2_2=ABCF2;refseq.name_1=NM_005692;refseq.name_2=NM_007189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I490I;refseq.proteinCoordStr_2=p.I490I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=150543683;refseq.start_2=150543683;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr7 150543719 . T C 314.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=98.90;MQ0=0;OQ=6927.73;QD=16.26;RankSumP=0.114397;SB=-1210.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.1434A>G;refseq.codingCoordStr_2=c.1434A>G;refseq.codonCoord_1=478;refseq.codonCoord_2=478;refseq.end_1=150543719;refseq.end_2=150543719;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1545;refseq.mrnaCoord_2=1545;refseq.name2_1=ABCF2;refseq.name2_2=ABCF2;refseq.name_1=NM_005692;refseq.name_2=NM_007189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S478S;refseq.proteinCoordStr_2=p.S478S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=150543719;refseq.start_2=150543719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr7 150551824 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=2.58;MQ=98.31;MQ0=0;OQ=1079.59;QD=14.99;RankSumP=0.141479;SB=-308.78;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.595C>T;refseq.codingCoordStr_2=c.595C>T;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.end_1=150551824;refseq.end_2=150551824;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=706;refseq.mrnaCoord_2=706;refseq.name2_1=ABCF2;refseq.name2_2=ABCF2;refseq.name_1=NM_005692;refseq.name_2=NM_007189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L199L;refseq.proteinCoordStr_2=p.L199L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=150551824;refseq.start_2=150551824;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr7 150552883 . A G 100.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=98.62;MQ0=0;OQ=2843.63;QD=13.74;RankSumP=0.102003;SB=-587.19;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.279T>C;refseq.codingCoordStr_2=c.279T>C;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=150552883;refseq.end_2=150552883;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=390;refseq.name2_1=ABCF2;refseq.name2_2=ABCF2;refseq.name_1=NM_005692;refseq.name_2=NM_007189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L93L;refseq.proteinCoordStr_2=p.L93L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=150552883;refseq.start_2=150552883;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr7 150563500 . C T 141.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=16.65;MQ=98.59;MQ0=0;OQ=6020.15;QD=16.18;RankSumP=0.0398002;SB=-2171.84;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.697C>T;refseq.codonCoord=233;refseq.end=150563500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2210;refseq.name=NM_019015;refseq.name2=CHPF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R233W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-132;refseq.start=150563500;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr7 150565660 . C A 13.58 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;QD=0.97;SB=-28.88;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1279C>A;refseq.codonCoord=427;refseq.end=150565660;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2792;refseq.name=NM_019015;refseq.name2=CHPF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q427K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=268;refseq.start=150565660;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:12,2:12:-8.24,-3.61,-38.58:46.23 chr7 150566363 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.37;MQ0=0;OQ=210.48;QD=8.10;RankSumP=0.506037;SB=-71.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1982G>C;refseq.codonCoord=661;refseq.end=150566363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3495;refseq.name=NM_019015;refseq.name2=CHPF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G661A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-476;refseq.start=150566363;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr7 150568210 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1094A>G;refseq.codingCoordStr_2=c.1055A>G;refseq.codingCoordStr_3=c.1055A>G;refseq.codonCoord_1=365;refseq.codonCoord_2=352;refseq.codonCoord_3=352;refseq.end_1=150568210;refseq.end_2=150568210;refseq.end_3=150568210;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1195;refseq.mrnaCoord_2=1184;refseq.mrnaCoord_3=1223;refseq.name2_1=SMARCD3;refseq.name2_2=SMARCD3;refseq.name2_3=SMARCD3;refseq.name_1=NM_001003801;refseq.name_2=NM_001003802;refseq.name_3=NM_003078;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E365G;refseq.proteinCoordStr_2=p.E352G;refseq.proteinCoordStr_3=p.E352G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.start_1=150568210;refseq.start_2=150568210;refseq.start_3=150568210;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr7 150766058 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.227A>C;refseq.codonCoord=76;refseq.end=150766058;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_144727;refseq.name2=CRYGN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N76T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-44;refseq.start=150766058;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 150888623 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.1466T>G;refseq.codingCoordStr_2=c.1598T>G;refseq.codingCoordStr_3=c.875T>G;refseq.codonCoord_1=489;refseq.codonCoord_2=533;refseq.codonCoord_3=292;refseq.end_1=150888623;refseq.end_2=150888623;refseq.end_3=150888623;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1940;refseq.mrnaCoord_2=2209;refseq.mrnaCoord_3=1034;refseq.name2_1=PRKAG2;refseq.name2_2=PRKAG2;refseq.name2_3=PRKAG2;refseq.name_1=NM_001040633;refseq.name_2=NM_016203;refseq.name_3=NM_024429;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V489G;refseq.proteinCoordStr_2=p.V533G;refseq.proteinCoordStr_3=p.V292G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=150888623;refseq.start_2=150888623;refseq.start_3=150888623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr7 151311005 . T C 108.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=16.50;MQ=98.67;MQ0=0;OQ=9604.53;QD=37.81;RankSumP=1.00000;SB=-2688.96;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.370T>C;refseq.codonCoord_2=124;refseq.end_1=151311005;refseq.end_2=151311005;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=640;refseq.name2_1=GALNTL5;refseq.name2_2=GALNTL5;refseq.name_1=NR_033169;refseq.name_2=NM_145292;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C124R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=147;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=151311005;refseq.start_2=151311005;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr7 151315189 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1111.44;QD=17.64;RankSumP=0.700722;SB=-518.32;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.548A>G;refseq.codonCoord_2=183;refseq.end_1=151315189;refseq.end_2=151315189;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1067;refseq.mrnaCoord_2=818;refseq.name2_1=GALNTL5;refseq.name2_2=GALNTL5;refseq.name_1=NR_033169;refseq.name_2=NM_145292;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E183G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=151315189;refseq.start_2=151315189;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr7 151330786 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_2=c.713A>G;refseq.codonCoord_2=238;refseq.end_1=151330786;refseq.end_2=151330786;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=983;refseq.name2_1=GALNTL5;refseq.name2_2=GALNTL5;refseq.name_1=NR_033169;refseq.name_2=NM_145292;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E238G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=151330786;refseq.start_2=151330786;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr7 151436077 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.734A>C;refseq.codonCoord=245;refseq.end=151436077;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_022087;refseq.name2=GALNT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D245A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=22;refseq.start=151436077;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr7 151441409 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=255;Dels=0.00;HRun=1;HaplotypeScore=15.44;MQ=98.62;MQ0=0;OQ=4101.78;QD=16.09;RankSumP=0.494384;SB=-545.97;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1226A>G;refseq.codonCoord=409;refseq.end=151441409;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1456;refseq.name=NM_022087;refseq.name2=GALNT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.E409G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=151441409;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr7 151473283 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.14062A>C;refseq.codonCoord=4688;refseq.end=151473283;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=14281;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4688P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=31;refseq.start=151473283;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr7 151482054 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=388;Dels=0.00;HRun=0;HaplotypeScore=13.97;MQ=98.86;MQ0=0;OQ=344.48;QD=0.89;RankSumP=0.00000;SB=504.68;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.12250A>C;refseq.codonCoord=4084;refseq.end=151482054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12469;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4084L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-27;refseq.start=151482054;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr7 151484338 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.11697A>C;refseq.codonCoord=3899;refseq.end=151484338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11916;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3899T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=27;refseq.start=151484338;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 151504786 . C T 187.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=98.65;MQ0=0;OQ=3984.95;QD=22.26;RankSumP=0.136725;SB=-1653.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.8685G>A;refseq.codonCoord=2895;refseq.end=151504786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8904;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2895Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-578;refseq.start=151504786;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr7 151505522 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.7949A>C;refseq.codonCoord=2650;refseq.end=151505522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8168;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2650T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=507;refseq.start=151505522;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr7 151515382 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=5.08659e-07;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.4906A>C;refseq.codonCoord=1636;refseq.end=151515382;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5125;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1636P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-103;refseq.start=151515382;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr7 151550063 . T C 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.379937;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3455A>G;refseq.codonCoord=1152;refseq.end=151550063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3674;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1152G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=22;refseq.start=151550063;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 1/0 chr7 151550623 . C T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.431818;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3401G>A;refseq.codonCoord=1134;refseq.end=151550623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3620;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1134N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-33;refseq.start=151550623;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 151557949 . T C 747.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2125;Dels=0.00;HRun=1;HaplotypeScore=622.47;MQ=12.93;MQ0=1630;QD=0.35;RankSumP=0.183154;SB=-98.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2968A>G;refseq.codonCoord=990;refseq.end=151557949;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3187;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S990G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=151557949;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/0 chr7 151557954 . C A 976.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2309;Dels=0.00;HRun=1;HaplotypeScore=660.57;MQ=13.27;MQ0=1750;QD=0.42;RankSumP=0.347153;SB=-468.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2963G>T;refseq.codonCoord=988;refseq.end=151557954;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3182;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C988F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-14;refseq.start=151557954;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap-filterIngatk GT 1/0 chr7 151557958 . A G 4342.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2454;Dels=0.00;HRun=0;HaplotypeScore=697.94;MQ=13.41;MQ0=1847;QD=1.77;RankSumP=0.290404;SB=-298.59;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2959T>C;refseq.codonCoord=987;refseq.end=151557958;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3178;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y987H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-18;refseq.start=151557958;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr7 151557959 . T C 1510.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2504;Dels=0.00;HRun=0;HaplotypeScore=706.52;MQ=13.34;MQ0=1887;QD=0.60;RankSumP=0.0674600;SB=-532.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2958A>G;refseq.codonCoord=986;refseq.end=151557959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3177;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P986P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-19;refseq.start=151557959;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/0 chr7 151563841 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=740;Dels=0.00;HRun=0;HaplotypeScore=80.80;MQ=39.46;MQ0=103;OQ=5196.59;QD=7.02;RankSumP=0.0400088;SB=368.22;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2763A>G;refseq.codonCoord=921;refseq.end=151563841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2982;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L921L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=151563841;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 1/0 chr7 151563849 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=746;Dels=0.00;HRun=0;HaplotypeScore=84.07;MQ=37.12;MQ0=160;OQ=1186.60;QD=1.59;RankSumP=0.161267;SB=625.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2755G>C;refseq.codonCoord=919;refseq.end=151563849;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2974;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V919L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-15;refseq.start=151563849;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 1/0 chr7 151563856 . G A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.359573;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2748C>T;refseq.codonCoord=916;refseq.end=151563856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2967;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I916I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-22;refseq.start=151563856;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr7 151563878 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.127228;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2726G>A;refseq.codonCoord=909;refseq.end=151563878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2945;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R909K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-44;refseq.start=151563878;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr7 151563898 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=493;Dels=0.00;HRun=0;HaplotypeScore=26.13;MQ=28.43;MQ0=245;OQ=493.17;QD=1.00;RankSumP=0.230500;SB=-191.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2706G>A;refseq.codonCoord=902;refseq.end=151563898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2925;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S902S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=54;refseq.start=151563898;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr7 151563930 . C T 14 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=275;Dels=0.00;HRun=1;HaplotypeScore=27.46;MQ=29.94;MQ0=131;OQ=252.94;QD=0.92;RankSumP=0.448444;SB=95.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2674G>A;refseq.codonCoord=892;refseq.end=151563930;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2893;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G892R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=22;refseq.start=151563930;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 0/1 chr7 151566764 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.742628;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2613C>T;refseq.codonCoord=871;refseq.end=151566764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2832;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P871P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-40;refseq.start=151566764;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 1/0 chr7 151566786 . T C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0952381;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2591A>G;refseq.codonCoord=864;refseq.end=151566786;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2810;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E864G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=59;refseq.start=151566786;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 1/0 chr7 151566843 . C T 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2534G>A;refseq.codonCoord=845;refseq.end=151566843;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2753;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G845E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=151566843;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr7 151575940 . C T 170.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=825;Dels=0.00;HRun=0;HaplotypeScore=12.22;MQ=69.40;MQ0=341;OQ=12886.93;QD=15.62;RankSumP=0.417738;SB=-2390.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2512G>A;refseq.codonCoord=838;refseq.end=151575940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2731;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G838S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-21;refseq.start=151575940;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr7 151576034 rs3896406 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=2947;Dels=0.00;HRun=0;HaplotypeScore=64.70;MQ=63.35;MQ0=168;OQ=24418.00;QD=8.29;SB=-3403.07;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2418C>G;refseq.codonCoord=806;refseq.end=151576034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2637;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S806S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-115;refseq.start=151576034;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2359,585:2715:-2440.80,-817.55,-10986.36:99 chr7 151576073 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2923;Dels=0.00;HRun=0;HaplotypeScore=38.58;MQ=48.23;MQ0=410;OQ=28159.77;QD=9.63;RankSumP=0.172209;SB=-6899.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2379G>A;refseq.codonCoord=793;refseq.end=151576073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2598;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S793S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-154;refseq.start=151576073;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr7 151576100 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2183;Dels=0.00;HRun=0;HaplotypeScore=53.44;MQ=43.62;MQ0=537;OQ=24053.44;QD=11.02;RankSumP=0.172084;SB=-4222.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.2352C>A;refseq.codonCoord=784;refseq.end=151576100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2571;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S784S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-181;refseq.start=151576100;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr7 151576137 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1087;Dels=0.00;HRun=1;HaplotypeScore=18.45;MQ=37.64;MQ0=490;OQ=2949.69;QD=2.71;RankSumP=0.312870;SB=593.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2315C>T;refseq.codonCoord=772;refseq.end=151576137;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2534;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S772L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-218;refseq.start=151576137;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr7 151576158 . T C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.357983;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2294A>G;refseq.codonCoord=765;refseq.end=151576158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2513;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E765G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-239;refseq.start=151576158;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr7 151576189 . G A 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.459431;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2263C>T;refseq.codonCoord=755;refseq.end=151576189;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2482;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q755*;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-270;refseq.start=151576189;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap GT 1/0 chr7 151576267 . T C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0715032;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2185A>G;refseq.codonCoord=729;refseq.end=151576267;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2404;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N729D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-348;refseq.start=151576267;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr7 151593067 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2076;Dels=0.00;HRun=0;HaplotypeScore=47.49;MQ=20.93;MQ0=1217;OQ=737.16;QD=0.36;RankSumP=0.483623;SB=-83.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1173C>A;refseq.codonCoord=391;refseq.end=151593067;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C391*;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-12;refseq.start=151593067;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap-filterIngatk GT 0/1 chr7 151593101 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=2839;Dels=0.00;HRun=1;HaplotypeScore=368.33;MQ=24.59;MQ0=814;OQ=1728.89;QD=0.61;RankSumP=0.371248;SB=-637.19;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1139G>T;refseq.codonCoord=380;refseq.end=151593101;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1358;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R380L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-46;refseq.start=151593101;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 1/0 chr7 151593109 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2873;Dels=0.00;HRun=2;HaplotypeScore=318.44;MQ=25.27;MQ0=654;OQ=23848.04;QD=8.30;RankSumP=0.339012;SB=-7589.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1131A>T;refseq.codonCoord=377;refseq.end=151593109;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P377P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-54;refseq.start=151593109;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/0 chr7 151593198 . C T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.734266;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.1042G>A;refseq.codonCoord=348;refseq.end=151593198;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D348N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=30;refseq.start=151593198;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 151593202 . C T 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=1019;Dels=0.00;HRun=0;HaplotypeScore=77.54;MQ=11.02;MQ0=874;QD=0.01;RankSumP=0.393939;SB=65.24;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1038G>A;refseq.codonCoord=346;refseq.end=151593202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1257;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V346V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=151593202;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap-filterIngatk GT 0/1 chr7 151601789 . T A 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1312;Dels=0.00;HRun=0;HaplotypeScore=218.54;MQ=26.07;MQ0=351;OQ=31862.81;QD=24.29;RankSumP=0.157350;SB=-11811.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.946A>T;refseq.codonCoord=316;refseq.end=151601789;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1165;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T316S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-67;refseq.start=151601789;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 1/0 chr7 151601792 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1265;Dels=0.00;HRun=0;HaplotypeScore=218.29;MQ=26.31;MQ0=316;OQ=2175.09;QD=1.72;RankSumP=0.0672655;SB=-803.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.943G>A;refseq.codonCoord=315;refseq.end=151601792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1162;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G315S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-70;refseq.start=151601792;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chr7 151601864 . G A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=388;Dels=0.00;HRun=2;HaplotypeScore=9.33;MQ=27.68;MQ0=209;OQ=629.92;QD=1.62;RankSumP=0.000838801;SB=-121.55;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.871C>T;refseq.codonCoord=291;refseq.end=151601864;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1090;refseq.name=NM_170606;refseq.name2=MLL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L291F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=22;refseq.start=151601864;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/0 chr7 151773977 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=233;Dels=0.00;HRun=0;HaplotypeScore=6.38;MQ=42.98;MQ0=45;OQ=1846.82;QD=7.93;RankSumP=0.157745;SB=-385.79;SecondBestBaseQ=32;set=Intersection GT 1/0 chr7 151774378 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;set=FilteredInAll GT 1/0 chr7 151977213 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.280620;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.290A>G;refseq.codonCoord=97;refseq.end=151977213;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_005431;refseq.name2=XRCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E97G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=169;refseq.start=151977213;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr7 152128589 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=1;HaplotypeScore=10.09;MQ=78.42;MQ0=35;OQ=2018.39;QD=4.70;RankSumP=0.105888;SB=-943.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.141T>C;refseq.codingCoordStr_2=c.141T>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=152128589;refseq.end_2=152128589;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=258;refseq.mrnaCoord_2=258;refseq.name2_1=ACTR3B;refseq.name2_2=ACTR3B;refseq.name_1=NM_001040135;refseq.name_2=NM_020445;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A47A;refseq.proteinCoordStr_2=p.A47A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=152128589;refseq.start_2=152128589;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr7 152153064 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.527337;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.codingCoordStr_1=c.875T>C;refseq.codingCoordStr_2=c.875T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.end_1=152153064;refseq.end_2=152153064;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=992;refseq.mrnaCoord_2=992;refseq.name2_1=ACTR3B;refseq.name2_2=ACTR3B;refseq.name_1=NM_001040135;refseq.name_2=NM_020445;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F292S;refseq.proteinCoordStr_2=p.F292S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=152153064;refseq.start_2=152153064;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=FilteredInAll GT 1/0 chr7 154948093 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=480.42;QD=14.56;RankSumP=0.315809;SB=-113.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.952T>C;refseq.codonCoord=318;refseq.end=154948093;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_001427;refseq.name2=EN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L318L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=267;refseq.start=154948093;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr7 156130193 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.255A>C;refseq.codonCoord=85;refseq.end=156130193;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_030936;refseq.name2=RNF32;refseq.positionType=CDS;refseq.proteinCoordStr=p.K85N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-20;refseq.start=156130193;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr7 156161894 . C G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=15.42;MQ=98.39;MQ0=0;OQ=9174.69;QD=43.28;RankSumP=1.00000;SB=-3727.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.873C>G;refseq.codonCoord=291;refseq.end=156161894;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1055;refseq.name=NM_030936;refseq.name2=RNF32;refseq.positionType=CDS;refseq.proteinCoordStr=p.H291Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=21;refseq.start=156161894;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr7 156161940 . C T 415.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.48;MQ0=0;OQ=4763.16;QD=38.11;RankSumP=1.00000;SB=-1641.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.919C>T;refseq.codonCoord=307;refseq.end=156161940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1101;refseq.name=NM_030936;refseq.name2=RNF32;refseq.positionType=CDS;refseq.proteinCoordStr=p.R307C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=67;refseq.start=156161940;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr7 156161951 . A G 106.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=2;HaplotypeScore=1.30;MQ=98.48;MQ0=0;OQ=4480.46;QD=36.13;RankSumP=1.00000;SB=-1688.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.930A>G;refseq.codonCoord=310;refseq.end=156161951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1112;refseq.name=NM_030936;refseq.name2=RNF32;refseq.positionType=CDS;refseq.proteinCoordStr=p.A310A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=78;refseq.start=156161951;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr7 156247591 . T C 212.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.98;MQ0=0;OQ=2389.63;QD=15.42;RankSumP=0.315366;SB=-380.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.682A>G;refseq.codonCoord=228;refseq.end=156247591;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_022458;refseq.name2=LMBR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T228A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=156247591;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr7 156435885 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.693G>T;refseq.codonCoord=231;refseq.end=156435885;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_138400;refseq.name2=NOM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L231F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-295;refseq.start=156435885;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr7 156454579 . G A 387.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=8256.54;QD=43.23;RankSumP=1.00000;SB=-3151.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2336G>A;refseq.codonCoord=779;refseq.end=156454579;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2351;refseq.name=NM_138400;refseq.name2=NOM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R779H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=38;refseq.start=156454579;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr7 156454985 . G C 177.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=5.64;MQ=98.67;MQ0=0;OQ=13934.88;QD=46.60;RankSumP=1.00000;SB=-4681.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2410G>C;refseq.codonCoord=804;refseq.end=156454985;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2425;refseq.name=NM_138400;refseq.name2=NOM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V804L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=156454985;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr7 156455009 . G A 252.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.75;MQ0=0;OQ=15233.19;QD=39.57;RankSumP=1.00000;SB=-6907.61;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.2434G>A;refseq.codonCoord=812;refseq.end=156455009;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2449;refseq.name=NM_138400;refseq.name2=NOM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V812M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=156455009;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr7 156660383 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.352T>G;refseq.codonCoord=118;refseq.end=156660383;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_014671;refseq.name2=UBE3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y118D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=156660383;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr7 156667115 . G A 191.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.80;MQ0=0;OQ=8244.04;QD=23.62;RankSumP=0.387973;SB=-3483.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.759G>A;refseq.codonCoord=253;refseq.end=156667115;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_014671;refseq.name2=UBE3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P253P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-12;refseq.start=156667115;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr7 156692937 . T C 198.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=1;HaplotypeScore=8.30;MQ=98.97;MQ0=0;OQ=5995.18;QD=20.60;RankSumP=0.00000;SB=-1512.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.1503T>C;refseq.codonCoord=501;refseq.end=156692937;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1815;refseq.name=NM_014671;refseq.name2=UBE3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y501Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-74;refseq.start=156692937;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 1/0 chr7 157089489 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.2384A>C;refseq.codingCoordStr_2=c.2333A>C;refseq.codingCoordStr_3=c.2297A>C;refseq.codonCoord_1=795;refseq.codonCoord_2=778;refseq.codonCoord_3=766;refseq.end_1=157089489;refseq.end_2=157089489;refseq.end_3=157089489;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2505;refseq.mrnaCoord_2=2454;refseq.mrnaCoord_3=2418;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H795P;refseq.proteinCoordStr_2=p.H778P;refseq.proteinCoordStr_3=p.H766P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.start_1=157089489;refseq.start_2=157089489;refseq.start_3=157089489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr7 157106825 . G A 166.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=97.87;MQ0=0;OQ=1816.19;QD=19.74;RankSumP=0.0115869;SB=-607.07;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.2334C>T;refseq.codingCoordStr_2=c.2283C>T;refseq.codingCoordStr_3=c.2247C>T;refseq.codonCoord_1=778;refseq.codonCoord_2=761;refseq.codonCoord_3=749;refseq.end_1=157106825;refseq.end_2=157106825;refseq.end_3=157106825;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2455;refseq.mrnaCoord_2=2404;refseq.mrnaCoord_3=2368;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A778A;refseq.proteinCoordStr_2=p.A761A;refseq.proteinCoordStr_3=p.A749A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=157106825;refseq.start_2=157106825;refseq.start_3=157106825;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr7 157596299 . A G 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=63.26;QD=3.01;RankSumP=0.648394;SB=-52.81;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_2=c.1626T>C;refseq.codingCoordStr_3=c.1575T>C;refseq.codonCoord_2=542;refseq.codonCoord_3=525;refseq.end_1=157619119;refseq.end_2=157596299;refseq.end_3=157596299;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1747;refseq.mrnaCoord_3=1696;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_130843;refseq.name_2=NM_002847;refseq.name_3=NM_130842;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S542S;refseq.proteinCoordStr_3=p.S525S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=157566841;refseq.start_2=157596299;refseq.start_3=157596299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=soap-filterIngatk GT 0/1 chr7 157623880 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=18.02;MQ=98.59;MQ0=0;OQ=2047.29;QD=9.26;RankSumP=0.0155658;SB=-503.90;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.999T>C;refseq.codingCoordStr_2=c.948T>C;refseq.codingCoordStr_3=c.999T>C;refseq.codonCoord_1=333;refseq.codonCoord_2=316;refseq.codonCoord_3=333;refseq.end_1=157623880;refseq.end_2=157623880;refseq.end_3=157623880;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1069;refseq.mrnaCoord_3=1120;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A333A;refseq.proteinCoordStr_2=p.A316A;refseq.proteinCoordStr_3=p.A333A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.start_1=157623880;refseq.start_2=157623880;refseq.start_3=157623880;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 0/1 chr7 157623905 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=282;Dels=0.00;HRun=1;HaplotypeScore=21.51;MQ=98.41;MQ0=0;OQ=4090.76;QD=14.51;RankSumP=0.412447;SB=-893.71;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.974G>A;refseq.codingCoordStr_2=c.923G>A;refseq.codingCoordStr_3=c.974G>A;refseq.codonCoord_1=325;refseq.codonCoord_2=308;refseq.codonCoord_3=325;refseq.end_1=157623905;refseq.end_2=157623905;refseq.end_3=157623905;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1095;refseq.mrnaCoord_2=1044;refseq.mrnaCoord_3=1095;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S325N;refseq.proteinCoordStr_2=p.S308N;refseq.proteinCoordStr_3=p.S325N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=157623905;refseq.start_2=157623905;refseq.start_3=157623905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 0/1 chr7 157652397 . G A 28.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=93.02;MQ0=0;OQ=79.88;QD=13.31;RankSumP=0.200000;SB=-49.66;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.897C>T;refseq.codingCoordStr_2=c.846C>T;refseq.codingCoordStr_3=c.897C>T;refseq.codonCoord_1=299;refseq.codonCoord_2=282;refseq.codonCoord_3=299;refseq.end_1=157652397;refseq.end_2=157652397;refseq.end_3=157652397;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1018;refseq.mrnaCoord_2=967;refseq.mrnaCoord_3=1018;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S299S;refseq.proteinCoordStr_2=p.S282S;refseq.proteinCoordStr_3=p.S299S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=157652397;refseq.start_2=157652397;refseq.start_3=157652397;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=filterInsoap-gatk GT 1/0 chr7 157652640 . C T 286.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.79;MQ0=0;OQ=1838.38;QD=18.95;RankSumP=0.224206;SB=-758.02;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.654G>A;refseq.codingCoordStr_2=c.603G>A;refseq.codingCoordStr_3=c.654G>A;refseq.codonCoord_1=218;refseq.codonCoord_2=201;refseq.codonCoord_3=218;refseq.end_1=157652640;refseq.end_2=157652640;refseq.end_3=157652640;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=775;refseq.mrnaCoord_2=724;refseq.mrnaCoord_3=775;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P218P;refseq.proteinCoordStr_2=p.P201P;refseq.proteinCoordStr_3=p.P218P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.spliceDist_3=105;refseq.start_1=157652640;refseq.start_2=157652640;refseq.start_3=157652640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr7 157652656 . C T 317.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=98.66;MQ0=0;OQ=2139.78;QD=18.45;RankSumP=0.186815;SB=-920.68;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.638G>A;refseq.codingCoordStr_2=c.587G>A;refseq.codingCoordStr_3=c.638G>A;refseq.codonCoord_1=213;refseq.codonCoord_2=196;refseq.codonCoord_3=213;refseq.end_1=157652656;refseq.end_2=157652656;refseq.end_3=157652656;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=759;refseq.mrnaCoord_2=708;refseq.mrnaCoord_3=759;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R213H;refseq.proteinCoordStr_2=p.R196H;refseq.proteinCoordStr_3=p.R213H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.start_1=157652656;refseq.start_2=157652656;refseq.start_3=157652656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr7 157652672 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=131;Dels=0.00;HRun=3;HaplotypeScore=3.74;MQ=98.55;MQ0=0;OQ=5040.93;QD=38.48;RankSumP=1.00000;SB=-1545.97;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.codingCoordStr_1=c.622T>C;refseq.codingCoordStr_2=c.571T>C;refseq.codingCoordStr_3=c.622T>C;refseq.codonCoord_1=208;refseq.codonCoord_2=191;refseq.codonCoord_3=208;refseq.end_1=157652672;refseq.end_2=157652672;refseq.end_3=157652672;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=743;refseq.mrnaCoord_2=692;refseq.mrnaCoord_3=743;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name_1=NM_002847;refseq.name_2=NM_130842;refseq.name_3=NM_130843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S208P;refseq.proteinCoordStr_2=p.S191P;refseq.proteinCoordStr_3=p.S208P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.start_1=157652672;refseq.start_2=157652672;refseq.start_3=157652672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr7 158018264 . C T 199.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.92;MQ0=0;OQ=5187.13;QD=21.43;RankSumP=0.218865;SB=-1427.81;SecondBestBaseQ=33;refseq.chr_1=chr7;refseq.chr_2=chr7;refseq.chr_3=chr7;refseq.chr_4=chr7;refseq.end_1=158073000;refseq.end_2=158073000;refseq.end_3=158073000;refseq.end_4=158018264;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_4=3;refseq.name2_1=PTPRN2;refseq.name2_2=PTPRN2;refseq.name2_3=PTPRN2;refseq.name2_4=MIR595;refseq.name_1=NM_130842;refseq.name_2=NM_002847;refseq.name_3=NM_130843;refseq.name_4=NR_030325;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_exon;refseq.spliceDist_4=3;refseq.spliceInfo_4=splice-acceptor_3;refseq.start_1=157802396;refseq.start_2=157975249;refseq.start_3=157975249;refseq.start_4=158018264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=Intersection GT 0/1 chr7 158129770 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr7;refseq.codingCoordStr=c.3352A>C;refseq.codonCoord=1118;refseq.end=158129770;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3497;refseq.name=NM_017760;refseq.name2=NCAPG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1118L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-29;refseq.start=158129770;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr7 158520087 . G A 210.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.70;MQ0=0;OQ=4868.52;QD=23.75;RankSumP=0.358156;SB=-2007.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.825C>T;refseq.codonCoord=275;refseq.end=158520087;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_003382;refseq.name2=VIPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N275N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=16;refseq.start=158520087;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr7 158543995 . T G 320.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=8151.58;QD=39.96;RankSumP=1.00000;SB=-3388.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.393A>C;refseq.codonCoord=131;refseq.end=158543995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_003382;refseq.name2=VIPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T131T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=36;refseq.start=158543995;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr7 158589278 . G A 106.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=97.93;MQ0=0;OQ=1200.05;QD=12.77;RankSumP=0.103737;SB=-233.45;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr7;refseq.codingCoordStr=c.288C>T;refseq.codonCoord=96;refseq.end=158589278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_003382;refseq.name2=VIPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D96D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=29;refseq.start=158589278;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr8 353192 . G A 262.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=21.74;MQ0=151;OQ=4328.10;QD=15.74;RankSumP=1.00000;SB=-1870.49;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.-39G>A;refseq.codingCoordStr_2=c.113G>A;refseq.codingCoordStr_3=c.113G>A;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.end_1=353192;refseq.end_2=353192;refseq.end_3=353192;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=379;refseq.mrnaCoord_2=379;refseq.mrnaCoord_3=379;refseq.name2_1=FBXO25;refseq.name2_2=FBXO25;refseq.name2_3=FBXO25;refseq.name_1=NM_012173;refseq.name_2=NM_183420;refseq.name_3=NM_183421;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R38H;refseq.proteinCoordStr_3=p.R38H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=353192;refseq.start_2=353192;refseq.start_3=353192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr8 371344 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=8.66;MQ=39.20;MQ0=0;OQ=2343.47;QD=21.90;RankSumP=0.355564;SB=-490.37;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.-14C>G;refseq.codingCoordStr_2=c.138C>G;refseq.codingCoordStr_3=c.138C>G;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=371344;refseq.end_2=371344;refseq.end_3=371344;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=404;refseq.mrnaCoord_3=404;refseq.name2_1=FBXO25;refseq.name2_2=FBXO25;refseq.name2_3=FBXO25;refseq.name_1=NM_012173;refseq.name_2=NM_183420;refseq.name_3=NM_183421;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I46M;refseq.proteinCoordStr_3=p.I46M;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=371344;refseq.start_2=371344;refseq.start_3=371344;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.uorfChange_1=+1;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr8 371369 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.266059;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.12T>G;refseq.codingCoordStr_2=c.163T>G;refseq.codingCoordStr_3=c.163T>G;refseq.codonCoord_1=4;refseq.codonCoord_2=55;refseq.codonCoord_3=55;refseq.end_1=371369;refseq.end_2=371369;refseq.end_3=371369;refseq.frame_1=2;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=429;refseq.mrnaCoord_2=429;refseq.mrnaCoord_3=429;refseq.name2_1=FBXO25;refseq.name2_2=FBXO25;refseq.name2_3=FBXO25;refseq.name_1=NM_012173;refseq.name_2=NM_183420;refseq.name_3=NM_183421;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y4*;refseq.proteinCoordStr_2=p.F55V;refseq.proteinCoordStr_3=p.F55V;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=371369;refseq.start_2=371369;refseq.start_3=371369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=TAG;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=soap GT 1/0 chr8 371398 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.484234;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.41G>C;refseq.codingCoordStr_2=c.192G>C;refseq.codingCoordStr_3=c.192G>C;refseq.codonCoord_1=14;refseq.codonCoord_2=64;refseq.codonCoord_3=64;refseq.end_1=371398;refseq.end_2=371398;refseq.end_3=371398;refseq.frame_1=1;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=458;refseq.mrnaCoord_2=458;refseq.mrnaCoord_3=458;refseq.name2_1=FBXO25;refseq.name2_2=FBXO25;refseq.name2_3=FBXO25;refseq.name_1=NM_012173;refseq.name_2=NM_183420;refseq.name_3=NM_183421;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R14P;refseq.proteinCoordStr_2=p.S64S;refseq.proteinCoordStr_3=p.S64S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=371398;refseq.start_2=371398;refseq.start_3=371398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=CCA;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=soap GT 0/1 chr8 375684 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.431818;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.157C>T;refseq.codingCoordStr_2=c.358C>T;refseq.codingCoordStr_3=c.358C>T;refseq.codonCoord_1=53;refseq.codonCoord_2=120;refseq.codonCoord_3=120;refseq.end_1=375684;refseq.end_2=375684;refseq.end_3=375684;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=624;refseq.mrnaCoord_3=624;refseq.name2_1=FBXO25;refseq.name2_2=FBXO25;refseq.name2_3=FBXO25;refseq.name_1=NM_012173;refseq.name_2=NM_183420;refseq.name_3=NM_183421;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R53*;refseq.proteinCoordStr_2=p.R120*;refseq.proteinCoordStr_3=p.R120*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=375684;refseq.start_2=375684;refseq.start_3=375684;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;refseq.variantCodon_3=TGA;set=FilteredInAll GT 0/1 chr8 608728 . A G 114.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=98.85;MQ0=0;OQ=7233.46;QD=33.33;RankSumP=1.00000;SB=-3296.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1128T>C;refseq.codonCoord=376;refseq.end=608728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1193;refseq.name=NM_207332;refseq.name2=ERICH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L376L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=65;refseq.start=608728;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr8 613593 . G A 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=532;Dels=0.00;HRun=0;HaplotypeScore=15.28;MQ=98.74;MQ0=0;OQ=19105.27;QD=35.91;RankSumP=1.00000;SB=-8207.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=613593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_207332;refseq.name2=ERICH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A253A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-305;refseq.start=613593;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr8 1793636 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=166;Dels=0.00;HRun=4;HaplotypeScore=13.02;MQ=98.13;MQ0=0;OQ=2160.65;QD=13.02;RankSumP=0.0160146;SB=-1018.92;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.141A>C;refseq.codonCoord=47;refseq.end=1793636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_014629;refseq.name2=ARHGEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P47P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-53;refseq.start=1793636;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr8 1795663 . A G 196.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.87;MQ0=0;OQ=1018.04;QD=19.21;RankSumP=0.703620;SB=-289.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=1795663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_014629;refseq.name2=ARHGEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V129V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-95;refseq.start=1795663;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr8 1804774 . G A 208.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=98.76;MQ0=0;OQ=2115.04;QD=17.34;RankSumP=0.381078;SB=-997.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.630G>A;refseq.codonCoord=210;refseq.end=1804774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_014629;refseq.name2=ARHGEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E210E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=1804774;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr8 1844955 . T C 151.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=9.36;MQ=98.26;MQ0=0;OQ=1935.70;QD=13.08;RankSumP=0.0416686;SB=-852.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2055T>C;refseq.codonCoord=685;refseq.end=1844955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2233;refseq.name=NM_014629;refseq.name2=ARHGEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y685Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=88;refseq.start=1844955;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr8 1892539 . G A 367.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2291.87;QD=41.67;RankSumP=1.00000;SB=-738.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3738G>A;refseq.codonCoord=1246;refseq.end=1892539;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3916;refseq.name=NM_014629;refseq.name2=ARHGEF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1246S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=218;refseq.start=1892539;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr8 2027744 . T C 397.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.58;MQ0=0;OQ=2959.46;QD=36.09;RankSumP=1.00000;SB=-1286.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1992T>C;refseq.codonCoord=664;refseq.end=2027744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2130;refseq.name=NM_003970;refseq.name2=MYOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I664I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-12;refseq.start=2027744;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr8 2036218 . A C 449.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=98.66;MQ0=0;OQ=8356.09;QD=38.51;RankSumP=1.00000;SB=-2797.09;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2586A>C;refseq.codonCoord=862;refseq.end=2036218;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2724;refseq.name=NM_003970;refseq.name2=MYOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V862V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-34;refseq.start=2036218;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr8 2041578 . C T 127.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.64;MQ0=0;OQ=2646.85;QD=20.05;RankSumP=0.118059;SB=-842.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2874C>T;refseq.codonCoord=958;refseq.end=2041578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3012;refseq.name=NM_003970;refseq.name2=MYOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I958I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-18;refseq.start=2041578;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr8 6259807 . G T 241.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.46;MQ0=0;OQ=3182.45;QD=16.15;RankSumP=0.423514;SB=-1450.13;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.228G>T;refseq.codingCoordStr_2=c.228G>T;refseq.codingCoordStr_3=c.228G>T;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.codonCoord_3=76;refseq.end_1=6259807;refseq.end_2=6259807;refseq.end_3=6259807;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=304;refseq.mrnaCoord_2=304;refseq.mrnaCoord_3=304;refseq.name2_1=MCPH1;refseq.name2_2=MCPH1;refseq.name2_3=MCPH1;refseq.name_1=NM_001172574;refseq.name_2=NM_001172575;refseq.name_3=NM_024596;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V76V;refseq.proteinCoordStr_2=p.V76V;refseq.proteinCoordStr_3=p.V76V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=6259807;refseq.start_2=6259807;refseq.start_3=6259807;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr8 6283958 . G T 465.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.84;MQ0=0;OQ=4683.84;QD=39.03;RankSumP=1.00000;SB=-2153.14;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.513G>T;refseq.codingCoordStr_3=c.513G>T;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.end_1=6286985;refseq.end_2=6283958;refseq.end_3=6283958;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=589;refseq.mrnaCoord_3=589;refseq.name2_1=MCPH1;refseq.name2_2=MCPH1;refseq.name2_3=MCPH1;refseq.name_1=NM_001172575;refseq.name_2=NM_001172574;refseq.name_3=NM_024596;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R171S;refseq.proteinCoordStr_3=p.R171S;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.start_1=6281102;refseq.start_2=6283958;refseq.start_3=6283958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/1 chr8 6289591 . G C 125.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.54;MQ0=0;OQ=7394.83;QD=49.97;RankSumP=1.00000;SB=-3676.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.940G>C;refseq.codingCoordStr_2=c.796G>C;refseq.codingCoordStr_3=c.940G>C;refseq.codonCoord_1=314;refseq.codonCoord_2=266;refseq.codonCoord_3=314;refseq.end_1=6289591;refseq.end_2=6289591;refseq.end_3=6289591;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1016;refseq.mrnaCoord_2=872;refseq.mrnaCoord_3=1016;refseq.name2_1=MCPH1;refseq.name2_2=MCPH1;refseq.name2_3=MCPH1;refseq.name_1=NM_001172574;refseq.name_2=NM_001172575;refseq.name_3=NM_024596;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D314H;refseq.proteinCoordStr_2=p.D266H;refseq.proteinCoordStr_3=p.D314H;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=270;refseq.spliceDist_2=270;refseq.spliceDist_3=270;refseq.start_1=6289591;refseq.start_2=6289591;refseq.start_3=6289591;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr8 6289826 . A G 263.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=4.26;MQ=98.93;MQ0=0;OQ=10913.67;QD=37.76;RankSumP=1.00000;SB=-4883.97;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1175A>G;refseq.codingCoordStr_2=c.1031A>G;refseq.codingCoordStr_3=c.1175A>G;refseq.codonCoord_1=392;refseq.codonCoord_2=344;refseq.codonCoord_3=392;refseq.end_1=6289826;refseq.end_2=6289826;refseq.end_3=6289826;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1251;refseq.mrnaCoord_2=1107;refseq.mrnaCoord_3=1251;refseq.name2_1=MCPH1;refseq.name2_2=MCPH1;refseq.name2_3=MCPH1;refseq.name_1=NM_001172574;refseq.name_2=NM_001172575;refseq.name_3=NM_024596;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D392G;refseq.proteinCoordStr_2=p.D344G;refseq.proteinCoordStr_3=p.D392G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=505;refseq.spliceDist_2=505;refseq.spliceDist_3=505;refseq.start_1=6289826;refseq.start_2=6289826;refseq.start_3=6289826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr8 6358711 . A G 201.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=8.11;MQ=98.91;MQ0=0;OQ=4601.63;QD=17.36;RankSumP=0.187133;SB=-1133.01;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.1092T>C;refseq.codingCoordStr_3=c.939T>C;refseq.codingCoordStr_4=c.1095T>C;refseq.codonCoord_2=364;refseq.codonCoord_3=313;refseq.codonCoord_4=365;refseq.end_1=6466372;refseq.end_2=6358711;refseq.end_3=6358711;refseq.end_4=6358711;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1421;refseq.mrnaCoord_3=1268;refseq.mrnaCoord_4=1424;refseq.name2_1=MCPH1;refseq.name2_2=ANGPT2;refseq.name2_3=ANGPT2;refseq.name2_4=ANGPT2;refseq.name_1=NM_024596;refseq.name_2=NM_001118887;refseq.name_3=NM_001118888;refseq.name_4=NM_001147;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.N364N;refseq.proteinCoordStr_3=p.N313N;refseq.proteinCoordStr_4=p.N365N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.spliceDist_4=63;refseq.start_1=6344869;refseq.start_2=6358711;refseq.start_3=6358711;refseq.start_4=6358711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 0/1 chr8 6358738 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.1065A>G;refseq.codingCoordStr_3=c.912A>G;refseq.codingCoordStr_4=c.1068A>G;refseq.codonCoord_2=355;refseq.codonCoord_3=304;refseq.codonCoord_4=356;refseq.end_1=6466372;refseq.end_2=6358738;refseq.end_3=6358738;refseq.end_4=6358738;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1394;refseq.mrnaCoord_3=1241;refseq.mrnaCoord_4=1397;refseq.name2_1=MCPH1;refseq.name2_2=ANGPT2;refseq.name2_3=ANGPT2;refseq.name2_4=ANGPT2;refseq.name_1=NM_024596;refseq.name_2=NM_001118887;refseq.name_3=NM_001118888;refseq.name_4=NM_001147;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G355G;refseq.proteinCoordStr_3=p.G304G;refseq.proteinCoordStr_4=p.G356G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.start_1=6344869;refseq.start_2=6358738;refseq.start_3=6358738;refseq.start_4=6358738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr8 6366192 . C A 199.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=5.66;MQ=98.51;MQ0=0;OQ=5475.12;QD=15.51;RankSumP=0.302085;SB=-1523.79;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.714G>T;refseq.codingCoordStr_3=c.558G>T;refseq.codingCoordStr_4=c.714G>T;refseq.codonCoord_2=238;refseq.codonCoord_3=186;refseq.codonCoord_4=238;refseq.end_1=6466372;refseq.end_2=6366192;refseq.end_3=6366192;refseq.end_4=6366192;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1043;refseq.mrnaCoord_3=887;refseq.mrnaCoord_4=1043;refseq.name2_1=MCPH1;refseq.name2_2=ANGPT2;refseq.name2_3=ANGPT2;refseq.name2_4=ANGPT2;refseq.name_1=NM_024596;refseq.name_2=NM_001118887;refseq.name_3=NM_001118888;refseq.name_4=NM_001147;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T238T;refseq.proteinCoordStr_3=p.T186T;refseq.proteinCoordStr_4=p.T238T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_2=-86;refseq.spliceDist_3=-86;refseq.spliceDist_4=-86;refseq.start_1=6344869;refseq.start_2=6366192;refseq.start_3=6366192;refseq.start_4=6366192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/0 chr8 6407709 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.155A>C;refseq.codingCoordStr_3=c.155A>C;refseq.codingCoordStr_4=c.155A>C;refseq.codonCoord_2=52;refseq.codonCoord_3=52;refseq.codonCoord_4=52;refseq.end_1=6466372;refseq.end_2=6407709;refseq.end_3=6407709;refseq.end_4=6407709;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=484;refseq.mrnaCoord_3=484;refseq.mrnaCoord_4=484;refseq.name2_1=MCPH1;refseq.name2_2=ANGPT2;refseq.name2_3=ANGPT2;refseq.name2_4=ANGPT2;refseq.name_1=NM_024596;refseq.name_2=NM_001118887;refseq.name_3=NM_001118888;refseq.name_4=NM_001147;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.N52T;refseq.proteinCoordStr_3=p.N52T;refseq.proteinCoordStr_4=p.N52T;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_2=-134;refseq.spliceDist_3=-134;refseq.spliceDist_4=-134;refseq.start_1=6344869;refseq.start_2=6407709;refseq.start_3=6407709;refseq.start_4=6407709;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chr8 6466394 . C T 278.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=7.02;MQ=98.58;MQ0=0;OQ=12198.46;QD=37.30;RankSumP=1.00000;SB=-5938.94;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2226C>T;refseq.codonCoord=742;refseq.end=6466394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_024596;refseq.name2=MCPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S742S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=12;refseq.start=6466394;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr8 6466441 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2273A>C;refseq.codonCoord=758;refseq.end=6466441;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2349;refseq.name=NM_024596;refseq.name2=MCPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D758A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=59;refseq.start=6466441;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr8 6466450 . C T 301 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=98.27;MQ0=0;OQ=7196.52;QD=37.88;RankSumP=1.00000;SB=-2504.35;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2282C>T;refseq.codonCoord=761;refseq.end=6466450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2358;refseq.name=NM_024596;refseq.name2=MCPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A761V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=68;refseq.start=6466450;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr8 6466586 . C A 290.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=6632.83;QD=37.90;RankSumP=1.00000;SB=-2396.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2418C>A;refseq.codonCoord=806;refseq.end=6466586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2494;refseq.name=NM_024596;refseq.name2=MCPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A806A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-35;refseq.start=6466586;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr8 6487952 . C T 325.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.83;MQ0=0;OQ=9205.84;QD=43.02;RankSumP=1.00000;SB=-4461.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2482C>T;refseq.codonCoord=828;refseq.end=6487952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2558;refseq.name=NM_024596;refseq.name2=MCPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P828S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=30;refseq.start=6487952;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr8 6780950 . C T 265.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.90;MQ0=0;OQ=12145.40;QD=41.31;RankSumP=1.00000;SB=-5534.88;SecondBestBaseQ=2;refseq.chr=chr8;refseq.codingCoordStr=c.*2G>A;refseq.end=6780950;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=347;refseq.name=NM_001925;refseq.name2=DEFA4;refseq.positionType=utr3;refseq.spliceDist=124;refseq.start=6780950;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr8 6781809 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1094.06;QD=14.21;RankSumP=0.400527;SB=-308.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.23C>T;refseq.codonCoord=8;refseq.end=6781809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=74;refseq.name=NM_001925;refseq.name2=DEFA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=35;refseq.start=6781809;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr8 6781810 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1272.05;QD=16.96;RankSumP=0.229889;SB=-380.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.22G>C;refseq.codonCoord=8;refseq.end=6781810;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=73;refseq.name=NM_001925;refseq.name2=DEFA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=34;refseq.start=6781810;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr8 7295796 . T C 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=9.27;MQ0=135;OQ=684.61;QD=4.10;RankSumP=1.00000;SB=-343.64;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_6=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.codingCoordStr_2=c.*15A>G;refseq.codingCoordStr_3=c.251A>G;refseq.codingCoordStr_4=c.251A>G;refseq.codingCoordStr_5=c.*15A>G;refseq.codingCoordStr_6=c.92A>G;refseq.codonCoord_3=84;refseq.codonCoord_4=84;refseq.codonCoord_6=31;refseq.end_1=7307628;refseq.end_2=7295796;refseq.end_3=7295796;refseq.end_4=7295796;refseq.end_5=7295796;refseq.end_6=7295796;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_6=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=494;refseq.mrnaCoord_3=418;refseq.mrnaCoord_4=418;refseq.mrnaCoord_5=220;refseq.mrnaCoord_6=144;refseq.name2_1=SPAG11B;refseq.name2_2=SPAG11B;refseq.name2_3=SPAG11B;refseq.name2_4=SPAG11B;refseq.name2_5=SPAG11B;refseq.name2_6=SPAG11B;refseq.name_1=NM_058202;refseq.name_2=NM_016512;refseq.name_3=NM_058200;refseq.name_4=NM_058201;refseq.name_5=NM_058206;refseq.name_6=NM_058207;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.H84R;refseq.proteinCoordStr_4=p.H84R;refseq.proteinCoordStr_6=p.H31R;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_6=His;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.referenceCodon_6=CAT;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.spliceDist_5=37;refseq.spliceDist_6=37;refseq.start_1=7292992;refseq.start_2=7295796;refseq.start_3=7295796;refseq.start_4=7295796;refseq.start_5=7295796;refseq.start_6=7295796;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;refseq.variantCodon_6=CGT;set=Intersection GT 1/1 chr8 7295820 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.100840;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=false;refseq.changesAA_6=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.codingCoordStr_2=c.303C>T;refseq.codingCoordStr_3=c.227C>T;refseq.codingCoordStr_4=c.227C>T;refseq.codingCoordStr_5=c.144C>T;refseq.codingCoordStr_6=c.68C>T;refseq.codonCoord_2=101;refseq.codonCoord_3=76;refseq.codonCoord_4=76;refseq.codonCoord_5=48;refseq.codonCoord_6=23;refseq.end_1=7307628;refseq.end_2=7295820;refseq.end_3=7295820;refseq.end_4=7295820;refseq.end_5=7295820;refseq.end_6=7295820;refseq.frame_2=2;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=2;refseq.frame_6=1;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=silent;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=470;refseq.mrnaCoord_3=394;refseq.mrnaCoord_4=394;refseq.mrnaCoord_5=196;refseq.mrnaCoord_6=120;refseq.name2_1=SPAG11B;refseq.name2_2=SPAG11B;refseq.name2_3=SPAG11B;refseq.name2_4=SPAG11B;refseq.name2_5=SPAG11B;refseq.name2_6=SPAG11B;refseq.name_1=NM_058202;refseq.name_2=NM_016512;refseq.name_3=NM_058200;refseq.name_4=NM_058201;refseq.name_5=NM_058206;refseq.name_6=NM_058207;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.T101T;refseq.proteinCoordStr_3=p.P76L;refseq.proteinCoordStr_4=p.P76L;refseq.proteinCoordStr_5=p.T48T;refseq.proteinCoordStr_6=p.P23L;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Pro;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=CCG;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.spliceDist_5=13;refseq.spliceDist_6=13;refseq.start_1=7292992;refseq.start_2=7295820;refseq.start_3=7295820;refseq.start_4=7295820;refseq.start_5=7295820;refseq.start_6=7295820;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Thr;refseq.variantAA_6=Leu;refseq.variantCodon_2=ACT;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=ACT;refseq.variantCodon_6=CTG;set=FilteredInAll GT 1/0 chr8 7340890 . G T 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.417454;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.25G>T;refseq.codingCoordStr_2=c.25G>T;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=7340890;refseq.end_2=7340890;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=113;refseq.mrnaCoord_2=113;refseq.name2_1=DEFB107A;refseq.name2_2=DEFB107B;refseq.name_1=NM_001037668;refseq.name_2=NM_001040705;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V9F;refseq.proteinCoordStr_2=p.V9F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=7340890;refseq.start_2=7340890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 0/1 chr8 7710536 . C A 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.418849;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.25G>T;refseq.codingCoordStr_2=c.25G>T;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=7710536;refseq.end_2=7710536;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=113;refseq.mrnaCoord_2=113;refseq.name2_1=DEFB107A;refseq.name2_2=DEFB107B;refseq.name_1=NM_001037668;refseq.name_2=NM_001040705;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V9F;refseq.proteinCoordStr_2=p.V9F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=7710536;refseq.start_2=7710536;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 1/0 chr8 7718760 . A T 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.510878;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.11T>A;refseq.codingCoordStr_2=c.11T>A;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.end_1=7718760;refseq.end_2=7718760;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=11;refseq.mrnaCoord_2=11;refseq.name2_1=DEFB105B;refseq.name2_2=DEFB105A;refseq.name_1=NM_001040703;refseq.name_2=NM_152250;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I4N;refseq.proteinCoordStr_2=p.I4N;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=7718760;refseq.start_2=7718760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr8 7755597 . T G 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=628;Dels=0.00;HRun=0;HaplotypeScore=56.79;MQ=33.05;MQ0=77;OQ=15387.46;QD=24.50;RankSumP=0.389703;SB=-5749.52;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.234T>G;refseq.codonCoord=78;refseq.end=7755597;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_001081552;refseq.name2=SPAG11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I78M;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=20;refseq.start=7755597;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/0 chr8 8213631 . C T 114.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=6.07;MQ=98.61;MQ0=0;OQ=1198.55;QD=15.77;RankSumP=0.356962;SB=-220.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3664G>A;refseq.codonCoord=1222;refseq.end=8213631;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3664;refseq.name=NM_001080826;refseq.name2=SGK223;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1222S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=598;refseq.start=8213631;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr8 8272920 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.82;MQ0=0;OQ=2270.43;QD=17.07;RankSumP=0.0426113;SB=-652.73;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.409C>G;refseq.codonCoord=137;refseq.end=8272920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_001080826;refseq.name2=SGK223;refseq.positionType=CDS;refseq.proteinCoordStr=p.R137G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=79;refseq.start=8272920;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr8 8785304 . A G 289.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=1;HaplotypeScore=5.59;MQ=98.63;MQ0=0;OQ=12001.37;QD=39.48;RankSumP=1.00000;SB=-5022.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2675T>C;refseq.codonCoord=892;refseq.end=8785304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3238;refseq.name=NM_004225;refseq.name2=MFHAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L892P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-324;refseq.start=8785304;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr8 8787139 . G C 125.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=97.43;MQ0=0;OQ=1117.07;QD=15.51;RankSumP=0.107737;SB=-494.94;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.840C>G;refseq.codonCoord=280;refseq.end=8787139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1403;refseq.name=NM_004225;refseq.name2=MFHAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L280L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=1403;refseq.start=8787139;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr8 8787877 . A G 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=51.67;QD=4.70;RankSumP=0.0367133;SB=-39.66;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.102T>C;refseq.codonCoord=34;refseq.end=8787877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_004225;refseq.name2=MFHAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L34L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=665;refseq.start=8787877;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 0/1 chr8 8906609 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.70;MQ0=0;OQ=1764.11;QD=10.89;RankSumP=0.495079;SB=-610.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.435T>G;refseq.codonCoord=145;refseq.end=8906609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_153332;refseq.name2=ERI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P145P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-64;refseq.start=8906609;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 9451464 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.605T>G;refseq.codonCoord=202;refseq.end=9451464;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_003747;refseq.name2=TNKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V202G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-69;refseq.start=9451464;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr8 9601847 . A G 311.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=98.66;MQ0=0;OQ=6212.09;QD=37.42;RankSumP=1.00000;SB=-945.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1386A>G;refseq.codonCoord=462;refseq.end=9601847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1391;refseq.name=NM_003747;refseq.name2=TNKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T462T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-71;refseq.start=9601847;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr8 9615350 . T C 214.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=4.08;MQ=98.57;MQ0=0;OQ=14050.12;QD=39.25;RankSumP=1.00000;SB=-5973.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1806T>C;refseq.codonCoord=602;refseq.end=9615350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1811;refseq.name=NM_003747;refseq.name2=TNKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G602G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=57;refseq.start=9615350;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr8 9671633 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3961A>C;refseq.codonCoord=1321;refseq.end=9671633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3966;refseq.name=NM_003747;refseq.name2=TNKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1321P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=64;refseq.start=9671633;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr8 10420636 . C G 321.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.99;MQ0=0;OQ=1598.87;QD=39.00;RankSumP=1.00000;SB=-101.85;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.131C>G;refseq.codonCoord=44;refseq.end=10420636;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_198464;refseq.name2=T-SP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-24;refseq.start=10420636;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr8 10424520 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.248T>G;refseq.codonCoord=83;refseq.end=10424520;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_198464;refseq.name2=T-SP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V83G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=94;refseq.start=10424520;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr8 10427862 . C T 338.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=98.73;MQ0=0;OQ=10194.61;QD=39.51;RankSumP=1.00000;SB=-4426.90;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.635C>T;refseq.codonCoord=212;refseq.end=10427862;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_198464;refseq.name2=T-SP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A212V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=37;refseq.start=10427862;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr8 10433464 . A C 417.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.69;MQ0=0;OQ=7534.97;QD=39.87;RankSumP=1.00000;SB=-3471.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.810A>C;refseq.codonCoord=270;refseq.end=10433464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_198464;refseq.name2=T-SP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I270I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=69;refseq.start=10433464;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr8 10502507 . C T 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=654;Dels=0.00;HRun=2;HaplotypeScore=22.50;MQ=98.11;MQ0=0;OQ=26282.20;QD=40.19;RankSumP=1.00000;SB=-12902.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.6511G>A;refseq.codonCoord=2171;refseq.end=10502507;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6740;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2171K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-1238;refseq.start=10502507;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr8 10503181 . G T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=26.88;MQ=98.80;MQ0=0;OQ=19707.67;QD=37.83;RankSumP=1.00000;SB=-8592.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5837C>A;refseq.codonCoord=1946;refseq.end=10503181;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6066;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1946E;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1912;refseq.start=10503181;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr8 10503892 . G A 245.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=12.05;MQ=98.67;MQ0=0;OQ=13963.15;QD=37.84;RankSumP=1.00000;SB=-6063.71;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5126C>T;refseq.codonCoord=1709;refseq.end=10503892;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5355;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1709V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-2623;refseq.start=10503892;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr8 10504617 . C A 105.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.14;MQ0=0;OQ=1119.80;QD=31.99;RankSumP=1.00000;SB=-354.52;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4401G>T;refseq.codonCoord=1467;refseq.end=10504617;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4630;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1467S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-3348;refseq.start=10504617;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr8 10505015 rs61503212 C T 0.44 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.08;MQ0=0;OQ=474.47;QD=7.65;SB=44.17;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4003G>A;refseq.codonCoord=1335;refseq.end=10505015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4232;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1335R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=3252;refseq.start=10505015;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=gatk GT:AD:DP:GL:GQ 0/1:42,20:58:-68.20,-17.46,-176.18:99 chr8 10505046 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.03;MQ=94.77;MQ0=0;OQ=283.94;QD=3.23;RankSumP=0.492038;SB=26.12;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3972A>G;refseq.codonCoord=1324;refseq.end=10505046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4201;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1324E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=3221;refseq.start=10505046;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr8 10505047 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=2;HaplotypeScore=2.03;MQ=95.04;MQ0=0;OQ=509.66;QD=5.42;RankSumP=0.431785;SB=23.11;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3971A>G;refseq.codonCoord=1324;refseq.end=10505047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4200;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1324G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=3220;refseq.start=10505047;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr8 10505062 . G C 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=96.38;MQ0=0;OQ=489.33;QD=3.62;RankSumP=0.0812903;SB=-176.96;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3956C>G;refseq.codonCoord=1319;refseq.end=10505062;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4185;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1319G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3205;refseq.start=10505062;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr8 10505063 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=96.42;MQ0=0;OQ=342.75;QD=2.50;RankSumP=0.0831746;SB=-93.41;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3955G>A;refseq.codonCoord=1319;refseq.end=10505063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4184;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1319T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3204;refseq.start=10505063;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 0/1 chr8 10505582 . G A 324.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.81;MQ0=0;OQ=5718.88;QD=42.05;RankSumP=1.00000;SB=-2231.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3436C>T;refseq.codonCoord=1146;refseq.end=10505582;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3665;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1146W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=2685;refseq.start=10505582;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr8 10506643 . A G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.46;MQ0=0;OQ=2212.29;QD=33.52;RankSumP=1.00000;SB=-1064.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2375T>C;refseq.codonCoord=792;refseq.end=10506643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2604;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L792P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1624;refseq.start=10506643;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr8 10507227 . G A 189.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=98.47;MQ0=0;OQ=3141.47;QD=33.42;RankSumP=1.00000;SB=-1455.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1791C>T;refseq.codonCoord=597;refseq.end=10507227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2020;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G597G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1040;refseq.start=10507227;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr8 10507478 . C T 148.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.53;MQ0=0;OQ=2484.97;QD=36.54;RankSumP=1.00000;SB=-1147.04;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1540G>A;refseq.codonCoord=514;refseq.end=10507478;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G514S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=789;refseq.start=10507478;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 10507983 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=90;Dels=0.00;HRun=0;HaplotypeScore=8.75;MQ=97.60;MQ0=0;OQ=1158.59;QD=12.87;RankSumP=0.318352;SB=-594.82;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1035G>A;refseq.codonCoord=345;refseq.end=10507983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_178857;refseq.name2=RP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R345R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=284;refseq.start=10507983;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr8 10620916 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=99.00;MQ0=0;OQ=758.57;QD=12.86;RankSumP=0.0195790;SB=-74.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.909T>C;refseq.codonCoord=303;refseq.end=10620916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_031439;refseq.name2=SOX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L303L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=671;refseq.start=10620916;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr8 10793336 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1462A>G;refseq.codonCoord=488;refseq.end=10793336;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_173683;refseq.name2=XKR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I488V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=501;refseq.start=10793336;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr8 11227001 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=8.71;MQ=27.45;MQ0=20;OQ=1839.64;QD=7.16;RankSumP=0.0722556;SB=-701.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.976C>T;refseq.codonCoord=326;refseq.end=11227001;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_054028;refseq.name2=AMAC1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R326W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-105;refseq.start=11227001;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr8 11339011 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=8.77;MQ=98.25;MQ0=0;OQ=5254.98;QD=24.33;RankSumP=0.0997496;SB=-1204.96;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.320C>G;refseq.codonCoord=107;refseq.end=11339011;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_053279;refseq.name2=FAM167A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T107S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-62;refseq.start=11339011;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr8 11339063 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=3.96367e-05;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.268C>G;refseq.codonCoord=90;refseq.end=11339063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_053279;refseq.name2=FAM167A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q90E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-114;refseq.start=11339063;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr8 11339163 . A C 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=93.59;MQ0=0;OQ=638.14;QD=24.54;RankSumP=1.00000;SB=-124.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.168T>G;refseq.codonCoord=56;refseq.end=11339163;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_053279;refseq.name2=FAM167A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H56Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-214;refseq.start=11339163;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr8 11444002 . T C 354.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=2661.87;QD=34.57;RankSumP=1.00000;SB=-913.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.330T>C;refseq.codonCoord=110;refseq.end=11444002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_001715;refseq.name2=BLK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S110S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-39;refseq.start=11444002;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 11451646 . T C 342.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=2.29;MQ=98.74;MQ0=0;OQ=9137.88;QD=40.25;RankSumP=1.00000;SB=-3867.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.843T>C;refseq.codonCoord=281;refseq.end=11451646;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1424;refseq.name=NM_001715;refseq.name2=BLK;refseq.positionType=CDS;refseq.proteinCoordStr=p.F281F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=71;refseq.start=11451646;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr8 11651984 . A G 118.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.20;MQ0=0;OQ=1543.02;QD=36.74;RankSumP=1.00000;SB=-76.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1129A>G;refseq.codonCoord=377;refseq.end=11651984;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1683;refseq.name=NM_002052;refseq.name2=GATA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S377G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-18;refseq.start=11651984;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr8 11678193 . A G 109.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=7.87;MQ=98.57;MQ0=0;OQ=4258.81;QD=14.79;RankSumP=0.0131558;SB=-1519.65;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.564A>G;refseq.codingCoordStr_2=c.381A>G;refseq.codingCoordStr_3=c.216A>G;refseq.codingCoordStr_4=c.564A>G;refseq.codonCoord_1=188;refseq.codonCoord_2=127;refseq.codonCoord_3=72;refseq.codonCoord_4=188;refseq.end_1=11678193;refseq.end_2=11678193;refseq.end_3=11678193;refseq.end_4=11678193;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=695;refseq.mrnaCoord_2=555;refseq.mrnaCoord_3=509;refseq.mrnaCoord_4=1239;refseq.name2_1=NEIL2;refseq.name2_2=NEIL2;refseq.name2_3=NEIL2;refseq.name2_4=NEIL2;refseq.name_1=NM_001135746;refseq.name_2=NM_001135747;refseq.name_3=NM_001135748;refseq.name_4=NM_145043;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P188P;refseq.proteinCoordStr_2=p.P127P;refseq.proteinCoordStr_3=p.P72P;refseq.proteinCoordStr_4=p.P188P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.start_1=11678193;refseq.start_2=11678193;refseq.start_3=11678193;refseq.start_4=11678193;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 0/1 chr8 11703746 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=8.47;MQ=98.61;MQ0=0;OQ=1170.03;QD=15.20;RankSumP=0.401249;SB=-394.28;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.134A>G;refseq.codonCoord=45;refseq.end=11703746;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_004462;refseq.name2=FDFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K45R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=35;refseq.start=11703746;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr8 11721062 . T C 239.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.98;MQ0=0;OQ=20112.87;QD=41.64;RankSumP=1.00000;SB=-8010.23;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.631T>C;refseq.codonCoord=211;refseq.end=11721062;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_004462;refseq.name2=FDFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-72;refseq.start=11721062;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr8 11725332 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=203;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.86;MQ0=0;OQ=3053.60;QD=15.04;RankSumP=0.394589;SB=-1171.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.873T>A;refseq.codonCoord=291;refseq.end=11725332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_004462;refseq.name2=FDFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I291I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=11725332;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr8 11740614 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.887T>G;refseq.codingCoordStr_2=c.887T>G;refseq.codingCoordStr_3=c.887T>G;refseq.codingCoordStr_4=c.887T>G;refseq.codingCoordStr_5=c.887T>G;refseq.codonCoord_1=296;refseq.codonCoord_2=296;refseq.codonCoord_3=296;refseq.codonCoord_4=296;refseq.codonCoord_5=296;refseq.end_1=11740614;refseq.end_2=11740614;refseq.end_3=11740614;refseq.end_4=11740614;refseq.end_5=11740614;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1049;refseq.mrnaCoord_2=1211;refseq.mrnaCoord_3=1168;refseq.mrnaCoord_4=1137;refseq.mrnaCoord_5=1123;refseq.name2_1=CTSB;refseq.name2_2=CTSB;refseq.name2_3=CTSB;refseq.name2_4=CTSB;refseq.name2_5=CTSB;refseq.name_1=NM_001908;refseq.name_2=NM_147780;refseq.name_3=NM_147781;refseq.name_4=NM_147782;refseq.name_5=NM_147783;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V296G;refseq.proteinCoordStr_2=p.V296G;refseq.proteinCoordStr_3=p.V296G;refseq.proteinCoordStr_4=p.V296G;refseq.proteinCoordStr_5=p.V296G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.start_1=11740614;refseq.start_2=11740614;refseq.start_3=11740614;refseq.start_4=11740614;refseq.start_5=11740614;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 0/1 chr8 11740650 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=268;Dels=0.00;HRun=1;HaplotypeScore=9.09;MQ=98.77;MQ0=0;OQ=4654.49;QD=17.37;RankSumP=0.0935767;SB=-1671.92;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.851G>C;refseq.codingCoordStr_2=c.851G>C;refseq.codingCoordStr_3=c.851G>C;refseq.codingCoordStr_4=c.851G>C;refseq.codingCoordStr_5=c.851G>C;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.codonCoord_3=284;refseq.codonCoord_4=284;refseq.codonCoord_5=284;refseq.end_1=11740650;refseq.end_2=11740650;refseq.end_3=11740650;refseq.end_4=11740650;refseq.end_5=11740650;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1013;refseq.mrnaCoord_2=1175;refseq.mrnaCoord_3=1132;refseq.mrnaCoord_4=1101;refseq.mrnaCoord_5=1087;refseq.name2_1=CTSB;refseq.name2_2=CTSB;refseq.name2_3=CTSB;refseq.name2_4=CTSB;refseq.name2_5=CTSB;refseq.name_1=NM_001908;refseq.name_2=NM_147780;refseq.name_3=NM_147781;refseq.name_4=NM_147782;refseq.name_5=NM_147783;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G284A;refseq.proteinCoordStr_2=p.G284A;refseq.proteinCoordStr_3=p.G284A;refseq.proteinCoordStr_4=p.G284A;refseq.proteinCoordStr_5=p.G284A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.spliceDist_4=58;refseq.spliceDist_5=58;refseq.start_1=11740650;refseq.start_2=11740650;refseq.start_3=11740650;refseq.start_4=11740650;refseq.start_5=11740650;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/0 chr8 11743990 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=9.58;MQ=98.41;MQ0=0;OQ=2815.52;QD=12.74;RankSumP=0.0542890;SB=-1206.08;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.420A>C;refseq.codingCoordStr_2=c.420A>C;refseq.codingCoordStr_3=c.420A>C;refseq.codingCoordStr_4=c.420A>C;refseq.codingCoordStr_5=c.420A>C;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.codonCoord_3=140;refseq.codonCoord_4=140;refseq.codonCoord_5=140;refseq.end_1=11743990;refseq.end_2=11743990;refseq.end_3=11743990;refseq.end_4=11743990;refseq.end_5=11743990;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=582;refseq.mrnaCoord_2=744;refseq.mrnaCoord_3=701;refseq.mrnaCoord_4=670;refseq.mrnaCoord_5=656;refseq.name2_1=CTSB;refseq.name2_2=CTSB;refseq.name2_3=CTSB;refseq.name2_4=CTSB;refseq.name2_5=CTSB;refseq.name_1=NM_001908;refseq.name_2=NM_147780;refseq.name_3=NM_147781;refseq.name_4=NM_147782;refseq.name_5=NM_147783;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T140T;refseq.proteinCoordStr_2=p.T140T;refseq.proteinCoordStr_3=p.T140T;refseq.proteinCoordStr_4=p.T140T;refseq.proteinCoordStr_5=p.T140T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.spliceDist_4=-27;refseq.spliceDist_5=-27;refseq.start_1=11743990;refseq.start_2=11743990;refseq.start_3=11743990;refseq.start_4=11743990;refseq.start_5=11743990;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=Intersection GT 1/0 chr8 12005813 . G A 0.01 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=4.89;MQ0=171;OQ=127.88;QD=0.73;SB=-10.00;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.235G>A;refseq.codonCoord=79;refseq.end=12005813;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_001039615;refseq.name2=ZNF705D;refseq.positionType=CDS;refseq.proteinCoordStr=p.D79N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=12005813;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:146,30:4:-16.32,-1.20,-0.00:12.04 chr8 12006374 . A C 40.05 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=418;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=1.77;MQ0=415;QD=0.10;SB=-10.00;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.260A>C;refseq.codonCoord=87;refseq.end=12006374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_001039615;refseq.name2=ZNF705D;refseq.positionType=CDS;refseq.proteinCoordStr=p.K87T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=25;refseq.start=12006374;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:294,124:2:-7.41,-0.60,-0.00:6.02 chr8 12007549 . A G 10.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=471;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=1.38;MQ0=470;QD=0.02;SB=-10.00;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.376A>G;refseq.codonCoord=126;refseq.end=12007549;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_001039615;refseq.name2=ZNF705D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T126A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=58;refseq.start=12007549;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:411,59:1:-4.27,-0.30,-0.00:1.76 chr8 12032145 . T C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.000413200;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1534A>G;refseq.codonCoord_2=512;refseq.end_1=12040330;refseq.end_2=12032145;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1534;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T512A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-60;refseq.start_1=12016979;refseq.start_2=12032145;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr8 12032153 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.240020;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1526A>G;refseq.codonCoord_2=509;refseq.end_1=12040330;refseq.end_2=12032153;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1526;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q509R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=-68;refseq.start_1=12016979;refseq.start_2=12032153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=soap GT 1/0 chr8 12032198 . C G 22 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.000128829;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1481G>C;refseq.codonCoord_2=494;refseq.end_1=12040330;refseq.end_2=12032198;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1481;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R494P;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=-113;refseq.start_1=12016979;refseq.start_2=12032198;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr8 12032251 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.406333;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1428A>G;refseq.codonCoord_2=476;refseq.end_1=12040330;refseq.end_2=12032251;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1428;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K476K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-166;refseq.start_1=12016979;refseq.start_2=12032251;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=soap GT 1/0 chr8 12032272 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.244034;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1407G>A;refseq.codonCoord_2=469;refseq.end_1=12040330;refseq.end_2=12032272;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1407;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S469S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=-187;refseq.start_1=12016979;refseq.start_2=12032272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=soap GT 0/1 chr8 12032295 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.415856;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1384A>G;refseq.codonCoord_2=462;refseq.end_1=12040330;refseq.end_2=12032295;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1384;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N462D;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-210;refseq.start_1=12016979;refseq.start_2=12032295;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=soap GT 1/0 chr8 12032359 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.274910;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1320C>T;refseq.codonCoord_2=440;refseq.end_1=12040330;refseq.end_2=12032359;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1320;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P440P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-274;refseq.start_1=12016979;refseq.start_2=12032359;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=soap GT 1/0 chr8 12032360 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.312412;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1319C>T;refseq.codonCoord_2=440;refseq.end_1=12040330;refseq.end_2=12032360;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1319;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P440L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-275;refseq.start_1=12016979;refseq.start_2=12032360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=soap GT 1/0 chr8 12032366 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=19.62;MQ=20.59;MQ0=225;OQ=5269.96;QD=9.83;RankSumP=0.421280;SB=-2062.27;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1313A>G;refseq.codonCoord_2=438;refseq.end_1=12040330;refseq.end_2=12032366;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1313;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K438R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-281;refseq.start_1=12016979;refseq.start_2=12032366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr8 12032411 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0486116;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1268G>A;refseq.codonCoord_2=423;refseq.end_1=12040330;refseq.end_2=12032411;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1268;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R423H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-326;refseq.start_1=12016979;refseq.start_2=12032411;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=soap GT 0/1 chr8 12032428 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.0242331;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1251A>C;refseq.codonCoord_2=417;refseq.end_1=12040330;refseq.end_2=12032428;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1251;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A417A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-343;refseq.start_1=12016979;refseq.start_2=12032428;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=soap GT 1/0 chr8 12032491 . A T 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0174792;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1188T>A;refseq.codonCoord_2=396;refseq.end_1=12040330;refseq.end_2=12032491;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1188;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A396A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-406;refseq.start_1=12016979;refseq.start_2=12032491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=soap GT 0/1 chr8 12032497 . G A 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0293514;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1182C>T;refseq.codonCoord_2=394;refseq.end_1=12040330;refseq.end_2=12032497;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1182;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L394L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_2=-412;refseq.start_1=12016979;refseq.start_2=12032497;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTT;set=soap GT 1/0 chr8 12032609 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.100618;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1070G>C;refseq.codonCoord_2=357;refseq.end_1=12040330;refseq.end_2=12032609;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1070;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C357S;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=-524;refseq.start_1=12016979;refseq.start_2=12032609;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=soap GT 1/0 chr8 12032614 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.391664;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1065T>C;refseq.codonCoord_2=355;refseq.end_1=12040330;refseq.end_2=12032614;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1065;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T355T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=-529;refseq.start_1=12016979;refseq.start_2=12032614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=soap GT 0/1 chr8 12032622 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1057A>G;refseq.codonCoord_2=353;refseq.end_1=12040330;refseq.end_2=12032622;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1057;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K353E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-537;refseq.start_1=12016979;refseq.start_2=12032622;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=FilteredInAll GT 1/0 chr8 12032657 . G A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=583;Dels=0.00;HRun=1;HaplotypeScore=5.79;MQ=23.06;MQ0=326;OQ=1948.73;QD=3.34;RankSumP=0.0132078;SB=-541.65;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1022C>T;refseq.codonCoord_2=341;refseq.end_1=12040330;refseq.end_2=12032657;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1022;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A341V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-572;refseq.start_1=12016979;refseq.start_2=12032657;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr8 12032675 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.431800;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1004A>G;refseq.codonCoord_2=335;refseq.end_1=12040330;refseq.end_2=12032675;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1004;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y335C;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=-590;refseq.start_1=12016979;refseq.start_2=12032675;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap GT 1/0 chr8 12032683 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=616;Dels=0.00;HRun=0;HaplotypeScore=33.88;MQ=18.23;MQ0=536;OQ=1884.45;QD=3.06;RankSumP=0.398151;SB=-764.46;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.996C>T;refseq.codonCoord_2=332;refseq.end_1=12040330;refseq.end_2=12032683;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=996;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D332D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-598;refseq.start_1=12016979;refseq.start_2=12032683;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=soap-filterIngatk GT 1/0 chr8 12032685 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.332685;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.994G>A;refseq.codonCoord_2=332;refseq.end_1=12040330;refseq.end_2=12032685;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=994;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D332N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-600;refseq.start_1=12016979;refseq.start_2=12032685;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=soap GT 0/1 chr8 12032734 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.343313;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.945T>C;refseq.codonCoord_2=315;refseq.end_1=12040330;refseq.end_2=12032734;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=945;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L315L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=-649;refseq.start_1=12016979;refseq.start_2=12032734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=soap GT 0/1 chr8 12032750 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.302476;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.929A>C;refseq.codonCoord_2=310;refseq.end_1=12040330;refseq.end_2=12032750;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=929;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q310P;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-665;refseq.start_1=12016979;refseq.start_2=12032750;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=soap GT 1/0 chr8 12032808 . G T 68 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=4.41557e-05;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.871C>A;refseq.codonCoord_2=291;refseq.end_1=12040330;refseq.end_2=12032808;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=871;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L291I;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=-723;refseq.start_1=12016979;refseq.start_2=12032808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=FilteredInAll GT 0/1 chr8 12032809 . T C 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.0175178;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.870A>G;refseq.codonCoord_2=290;refseq.end_1=12040330;refseq.end_2=12032809;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=870;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K290K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-724;refseq.start_1=12016979;refseq.start_2=12032809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=soap GT 1/0 chr8 12032842 . G T 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.203853;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.837C>A;refseq.codonCoord_2=279;refseq.end_1=12040330;refseq.end_2=12032842;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=837;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V279V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=-757;refseq.start_1=12016979;refseq.start_2=12032842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=soap GT 0/1 chr8 12032866 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0774736;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.813T>C;refseq.codonCoord_2=271;refseq.end_1=12040330;refseq.end_2=12032866;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=813;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T271T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=-781;refseq.start_1=12016979;refseq.start_2=12032866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=soap GT 0/1 chr8 12032893 . C T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=572;Dels=0.00;HRun=0;HaplotypeScore=30.06;MQ=21.08;MQ0=188;OQ=5633.59;QD=9.85;SB=-1841.24;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.786G>A;refseq.codonCoord_2=262;refseq.end_1=12040330;refseq.end_2=12032893;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=786;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P262P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=786;refseq.start_1=12016979;refseq.start_2=12032893;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:302,264:255:-562.36,-76.79,-488.48:99 chr8 12032913 . G C 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.298204;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.766C>G;refseq.codonCoord_2=256;refseq.end_1=12040330;refseq.end_2=12032913;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=766;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L256V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=766;refseq.start_1=12016979;refseq.start_2=12032913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=soap GT 0/1 chr8 12032917 . G A 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=25;HRun=0;RankSumP=1.00000;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.762C>T;refseq.codonCoord_2=254;refseq.end_1=12040330;refseq.end_2=12032917;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=762;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C254C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=762;refseq.start_1=12016979;refseq.start_2=12032917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=FilteredInAll GT 1/1 chr8 12032979 . T G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.700A>C;refseq.codonCoord_2=234;refseq.end_1=12040330;refseq.end_2=12032979;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=700;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K234Q;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=700;refseq.start_1=12016979;refseq.start_2=12032979;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=soap GT 1/1 chr8 12033043 . C G 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.636G>C;refseq.codonCoord_2=212;refseq.end_1=12040330;refseq.end_2=12033043;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=636;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G212G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=636;refseq.start_1=12016979;refseq.start_2=12033043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=soap GT 1/1 chr8 12033080 . C T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.599G>A;refseq.codonCoord_2=200;refseq.end_1=12040330;refseq.end_2=12033080;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=599;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C200Y;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=599;refseq.start_1=12016979;refseq.start_2=12033080;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=FilteredInAll GT 1/1 chr8 12033232 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=715;Dels=0.00;HRun=0;HaplotypeScore=50.23;MQ=18.82;MQ0=253;OQ=2315.06;QD=3.24;SB=-780.91;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.447G>A;refseq.codonCoord_2=149;refseq.end_1=12040330;refseq.end_2=12033232;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=447;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L149L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=447;refseq.start_1=12016979;refseq.start_2=12033232;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:572,142:311:-328.43,-93.65,-972.34:99 chr8 12033256 . A G 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.0251526;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.423T>C;refseq.codonCoord_2=141;refseq.end_1=12040330;refseq.end_2=12033256;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=423;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H141H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=423;refseq.start_1=12016979;refseq.start_2=12033256;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=FilteredInAll GT 0/1 chr8 12033259 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.534305;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.420T>C;refseq.codonCoord_2=140;refseq.end_1=12040330;refseq.end_2=12033259;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=420;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G140G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=420;refseq.start_1=12016979;refseq.start_2=12033259;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=soap GT 0/1 chr8 12033331 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.285714;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.348A>G;refseq.codonCoord_2=116;refseq.end_1=12040330;refseq.end_2=12033331;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=348;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T116T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=348;refseq.start_1=12016979;refseq.start_2=12033331;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=FilteredInAll GT 1/0 chr8 12033396 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.165368;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.283C>T;refseq.codonCoord_2=95;refseq.end_1=12040330;refseq.end_2=12033396;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=283;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L95L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=283;refseq.start_1=12016979;refseq.start_2=12033396;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=soap GT 1/0 chr8 12033407 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.336288;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.272A>T;refseq.codonCoord_2=91;refseq.end_1=12040330;refseq.end_2=12033407;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=272;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E91V;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=272;refseq.start_1=12016979;refseq.start_2=12033407;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=soap GT 1/0 chr8 12033483 . T A 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0359169;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.196A>T;refseq.codonCoord_2=66;refseq.end_1=12040330;refseq.end_2=12033483;refseq.frame_2=0;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=196;refseq.name2_1=FAM66D;refseq.name2_2=USP17L2;refseq.name_1=NR_027425;refseq.name_2=NM_201402;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K66*;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=196;refseq.start_1=12016979;refseq.start_2=12033483;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAG;set=soap GT 1/0 chr8 12645091 . T A 314.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=97.93;MQ0=0;OQ=3027.07;QD=39.83;RankSumP=1.00000;SB=-1183.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.793A>T;refseq.codonCoord=265;refseq.end=12645091;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_152271;refseq.name2=LONRF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I265L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-48;refseq.start=12645091;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr8 12994595 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.2104G>C;refseq.codingCoordStr_2=c.2326G>C;refseq.codingCoordStr_3=c.3637G>C;refseq.codonCoord_1=702;refseq.codonCoord_2=776;refseq.codonCoord_3=1213;refseq.end_1=12994595;refseq.end_2=12994595;refseq.end_3=12994595;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2388;refseq.mrnaCoord_2=2646;refseq.mrnaCoord_3=4081;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name2_3=DLC1;refseq.name_1=NM_001164271;refseq.name_2=NM_006094;refseq.name_3=NM_182643;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A702P;refseq.proteinCoordStr_2=p.A776P;refseq.proteinCoordStr_3=p.A1213P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.spliceDist_3=-104;refseq.start_1=12994595;refseq.start_2=12994595;refseq.start_3=12994595;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr8 12994686 . G T 244.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.08;MQ0=0;OQ=1790.67;QD=15.05;RankSumP=0.260831;SB=-757.35;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.2013C>A;refseq.codingCoordStr_2=c.2235C>A;refseq.codingCoordStr_3=c.3546C>A;refseq.codonCoord_1=671;refseq.codonCoord_2=745;refseq.codonCoord_3=1182;refseq.end_1=12994686;refseq.end_2=12994686;refseq.end_3=12994686;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2297;refseq.mrnaCoord_2=2555;refseq.mrnaCoord_3=3990;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name2_3=DLC1;refseq.name_1=NM_001164271;refseq.name_2=NM_006094;refseq.name_3=NM_182643;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R671R;refseq.proteinCoordStr_2=p.R745R;refseq.proteinCoordStr_3=p.R1182R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=12994686;refseq.start_2=12994686;refseq.start_3=12994686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 0/1 chr8 12996664 . C T 365.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=98.38;MQ0=0;OQ=5127.81;QD=18.65;RankSumP=0.336883;SB=-1746.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1968G>A;refseq.codingCoordStr_2=c.2190G>A;refseq.codingCoordStr_3=c.3501G>A;refseq.codonCoord_1=656;refseq.codonCoord_2=730;refseq.codonCoord_3=1167;refseq.end_1=12996664;refseq.end_2=12996664;refseq.end_3=12996664;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2252;refseq.mrnaCoord_2=2510;refseq.mrnaCoord_3=3945;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name2_3=DLC1;refseq.name_1=NM_001164271;refseq.name_2=NM_006094;refseq.name_3=NM_182643;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S656S;refseq.proteinCoordStr_2=p.S730S;refseq.proteinCoordStr_3=p.S1167S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=12996664;refseq.start_2=12996664;refseq.start_3=12996664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 0/1 chr8 13001846 . C T 280.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.85;MQ0=0;OQ=6404.18;QD=20.53;RankSumP=0.437047;SB=-2132.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.838G>A;refseq.codingCoordStr_2=c.1060G>A;refseq.codingCoordStr_3=c.2371G>A;refseq.codonCoord_1=280;refseq.codonCoord_2=354;refseq.codonCoord_3=791;refseq.end_1=13001846;refseq.end_2=13001846;refseq.end_3=13001846;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1122;refseq.mrnaCoord_2=1380;refseq.mrnaCoord_3=2815;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name2_3=DLC1;refseq.name_1=NM_001164271;refseq.name_2=NM_006094;refseq.name_3=NM_182643;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V280M;refseq.proteinCoordStr_2=p.V354M;refseq.proteinCoordStr_3=p.V791M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-620;refseq.spliceDist_2=-620;refseq.spliceDist_3=-620;refseq.start_1=13001846;refseq.start_2=13001846;refseq.start_3=13001846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr8 13116548 . C T 127.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=2;HaplotypeScore=4.01;MQ=98.23;MQ0=0;OQ=3983.23;QD=21.42;RankSumP=0.438331;SB=-1539.94;SecondBestBaseQ=32;refseq.chr=chr8;refseq.end=13207138;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_182643;refseq.name2=DLC1;refseq.positionType=intron;refseq.start=13017548;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr8 13401173 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=797;Dels=0.00;HRun=1;HaplotypeScore=21.63;MQ=98.66;MQ0=0;OQ=14695.08;QD=18.44;RankSumP=0.441445;SB=-5174.25;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.779C>T;refseq.codingCoordStr_2=c.779C>T;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=13401173;refseq.end_2=13401173;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1223;refseq.mrnaCoord_2=1223;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name_1=NM_024767;refseq.name_2=NM_182643;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T260I;refseq.proteinCoordStr_2=p.T260I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-245;refseq.spliceDist_2=-245;refseq.start_1=13401173;refseq.start_2=13401173;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr8 13401189 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=879;Dels=0.00;HRun=0;HaplotypeScore=17.80;MQ=98.62;MQ0=0;OQ=33886.02;QD=38.55;RankSumP=1.00000;SB=-15939.72;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.763A>G;refseq.codingCoordStr_2=c.763A>G;refseq.codonCoord_1=255;refseq.codonCoord_2=255;refseq.end_1=13401189;refseq.end_2=13401189;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1207;refseq.mrnaCoord_2=1207;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name_1=NM_024767;refseq.name_2=NM_182643;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N255D;refseq.proteinCoordStr_2=p.N255D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-261;refseq.spliceDist_2=-261;refseq.start_1=13401189;refseq.start_2=13401189;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap-filterIngatk GT 1/1 chr8 13401190 rs11203495 T G 15.20 PASS AC=1;AF=0.50;AN=2;DB;DP=885;Dels=0.00;HRun=0;HaplotypeScore=17.17;MQ=98.62;MQ0=0;OQ=14527.04;QD=16.41;SB=-5863.42;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.762A>C;refseq.codingCoordStr_2=c.762A>C;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.end_1=13401190;refseq.end_2=13401190;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1206;refseq.mrnaCoord_2=1206;refseq.name2_1=DLC1;refseq.name2_2=DLC1;refseq.name_1=NM_024767;refseq.name_2=NM_182643;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q254H;refseq.proteinCoordStr_2=p.Q254H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-262;refseq.spliceDist_2=-262;refseq.start_1=13401190;refseq.start_2=13401190;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:488,397:858:-1451.70,-258.37,-1909.49:99 chr8 16022434 . C T 222.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.47;MQ0=0;OQ=1953.21;QD=36.17;RankSumP=1.00000;SB=-140.67;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1086G>A;refseq.codonCoord_2=362;refseq.end_1=16045427;refseq.end_2=16022434;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1284;refseq.name2_1=MSR1;refseq.name2_2=MSR1;refseq.name_1=NM_138716;refseq.name_2=NM_138715;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R362R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=53;refseq.start_1=16012109;refseq.start_2=16022434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr8 17144872 . G A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0708181;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.311C>T;refseq.codingCoordStr_2=c.311C>T;refseq.codonCoord_1=104;refseq.codonCoord_2=104;refseq.end_1=17144872;refseq.end_2=17144872;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=610;refseq.mrnaCoord_2=610;refseq.name2_1=CNOT7;refseq.name2_2=CNOT7;refseq.name_1=NM_013354;refseq.name_2=NM_054026;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T104M;refseq.proteinCoordStr_2=p.T104M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=17144872;refseq.start_2=17144872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/0 chr8 17147021 . T C 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0302771;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.12A>G;refseq.codingCoordStr_2=c.12A>G;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.end_1=17147021;refseq.end_2=17147021;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=311;refseq.mrnaCoord_2=311;refseq.name2_1=CNOT7;refseq.name2_2=CNOT7;refseq.name_1=NM_013354;refseq.name_2=NM_054026;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A4A;refseq.proteinCoordStr_2=p.A4A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=17147021;refseq.start_2=17147021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=soap GT 1/0 chr8 17243324 . T C 215.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=98.41;MQ0=0;OQ=2367.44;QD=15.68;RankSumP=0.431853;SB=-1009.47;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.651A>G;refseq.codonCoord=217;refseq.end=17243324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_004686;refseq.name2=MTMR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L217L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=54;refseq.start=17243324;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr8 17263000 . G A 189.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=14.49;MQ=98.24;MQ0=0;OQ=4411.67;QD=16.40;RankSumP=0.412396;SB=-685.23;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=17263000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_004686;refseq.name2=MTMR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y155Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=17263000;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr8 17275015 . G C 339.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=5427.90;QD=45.23;RankSumP=1.00000;SB=-1566.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.130C>G;refseq.codonCoord=44;refseq.end=17275015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_004686;refseq.name2=MTMR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-18;refseq.start=17275015;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr8 17315158 . A G 14.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=128.68;QD=32.17;RankSumP=1.00000;SB=-52.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.15T>C;refseq.codonCoord=5;refseq.end=17315158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_004686;refseq.name2=MTMR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=17315158;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chr8 17440759 . G A 211.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=98.76;MQ0=0;OQ=11591.63;QD=42.46;RankSumP=1.00000;SB=-5758.25;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.47G>A;refseq.codingCoordStr_3=c.47G>A;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.end_1=17445195;refseq.end_2=17440759;refseq.end_3=17440759;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=95;refseq.mrnaCoord_3=95;refseq.name2_1=SLC7A2;refseq.name2_2=SLC7A2;refseq.name2_3=SLC7A2;refseq.name_1=NM_001008539;refseq.name_2=NM_001164771;refseq.name_3=NM_003046;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R16Q;refseq.proteinCoordStr_3=p.R16Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=17399135;refseq.start_2=17440759;refseq.start_3=17440759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr8 17440794 . G C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.92;MQ0=0;OQ=12211.09;QD=49.44;RankSumP=1.00000;SB=-4181.70;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.82G>C;refseq.codingCoordStr_3=c.82G>C;refseq.codonCoord_2=28;refseq.codonCoord_3=28;refseq.end_1=17445195;refseq.end_2=17440794;refseq.end_3=17440794;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=130;refseq.mrnaCoord_3=130;refseq.name2_1=SLC7A2;refseq.name2_2=SLC7A2;refseq.name2_3=SLC7A2;refseq.name_1=NM_001008539;refseq.name_2=NM_001164771;refseq.name_3=NM_003046;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D28H;refseq.proteinCoordStr_3=p.D28H;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=17399135;refseq.start_2=17440794;refseq.start_3=17440794;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr8 17456502 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.1195+2;refseq.codingCoordStr_3=c.1315+2;refseq.end_1=17456736;refseq.end_2=17456502;refseq.end_3=17456502;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=SLC7A2;refseq.name2_2=SLC7A2;refseq.name2_3=SLC7A2;refseq.name_1=NM_003046;refseq.name_2=NM_001008539;refseq.name_3=NM_001164771;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=17453884;refseq.start_2=17456502;refseq.start_3=17456502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr8 17463831 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=24.93;MQ=98.70;MQ0=0;OQ=8304.04;QD=20.55;RankSumP=0.259924;SB=-1729.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1591G>A;refseq.codingCoordStr_2=c.1711G>A;refseq.codingCoordStr_3=c.1708G>A;refseq.codonCoord_1=531;refseq.codonCoord_2=571;refseq.codonCoord_3=570;refseq.end_1=17463831;refseq.end_2=17463831;refseq.end_3=17463831;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1763;refseq.mrnaCoord_2=1759;refseq.mrnaCoord_3=1756;refseq.name2_1=SLC7A2;refseq.name2_2=SLC7A2;refseq.name2_3=SLC7A2;refseq.name_1=NM_001008539;refseq.name_2=NM_001164771;refseq.name_3=NM_003046;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A531T;refseq.proteinCoordStr_2=p.A571T;refseq.proteinCoordStr_3=p.A570T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=17463831;refseq.start_2=17463831;refseq.start_3=17463831;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr8 17463880 . T A 437.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.68;MQ0=0;OQ=7981.80;QD=40.72;RankSumP=1.00000;SB=-2459.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1640T>A;refseq.codingCoordStr_2=c.1760T>A;refseq.codingCoordStr_3=c.1757T>A;refseq.codonCoord_1=547;refseq.codonCoord_2=587;refseq.codonCoord_3=586;refseq.end_1=17463880;refseq.end_2=17463880;refseq.end_3=17463880;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1812;refseq.mrnaCoord_2=1808;refseq.mrnaCoord_3=1805;refseq.name2_1=SLC7A2;refseq.name2_2=SLC7A2;refseq.name2_3=SLC7A2;refseq.name_1=NM_001008539;refseq.name_2=NM_001164771;refseq.name_3=NM_003046;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L547Q;refseq.proteinCoordStr_2=p.L587Q;refseq.proteinCoordStr_3=p.L586Q;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=17463880;refseq.start_2=17463880;refseq.start_3=17463880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr8 17530562 . T C 181.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.63;MQ0=0;OQ=3617.82;QD=32.30;RankSumP=1.00000;SB=-903.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.792T>C;refseq.codonCoord=264;refseq.end=17530562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_006207;refseq.name2=PDGFRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y264Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=17530562;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr8 17544503 . T C 248.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=0;HaplotypeScore=17.72;MQ=98.91;MQ0=0;OQ=6653.35;QD=18.03;RankSumP=0.434834;SB=-2426.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1041T>C;refseq.codonCoord=347;refseq.end=17544503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_006207;refseq.name2=PDGFRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.F347F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=102;refseq.start=17544503;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr8 17557694 . G A 283.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=10.52;MQ=98.77;MQ0=0;OQ=7278.97;QD=16.47;RankSumP=0.491398;SB=-2796.48;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.3066C>T;refseq.codingCoordStr_2=c.2904C>T;refseq.codingCoordStr_3=c.807C>T;refseq.codingCoordStr_4=c.501C>T;refseq.codingCoordStr_5=c.564C>T;refseq.codonCoord_1=1022;refseq.codonCoord_2=968;refseq.codonCoord_3=269;refseq.codonCoord_4=167;refseq.codonCoord_5=188;refseq.end_1=17557694;refseq.end_2=17557694;refseq.end_3=17557694;refseq.end_4=17557694;refseq.end_5=17557694;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3540;refseq.mrnaCoord_2=3378;refseq.mrnaCoord_3=1127;refseq.mrnaCoord_4=772;refseq.mrnaCoord_5=924;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name2_3=MTUS1;refseq.name2_4=MTUS1;refseq.name2_5=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.name_3=NM_001001931;refseq.name_4=NM_001166393;refseq.name_5=NM_020749;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Y1022Y;refseq.proteinCoordStr_2=p.Y968Y;refseq.proteinCoordStr_3=p.Y269Y;refseq.proteinCoordStr_4=p.Y167Y;refseq.proteinCoordStr_5=p.Y188Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.spliceDist_5=-43;refseq.start_1=17557694;refseq.start_2=17557694;refseq.start_3=17557694;refseq.start_4=17557694;refseq.start_5=17557694;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;set=Intersection GT 1/0 chr8 17586279 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.86;MQ0=0;OQ=886.15;QD=12.66;RankSumP=0.414064;SB=-418.07;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.2676A>G;refseq.codingCoordStr_2=c.2514A>G;refseq.codingCoordStr_3=c.417A>G;refseq.codingCoordStr_4=c.111A>G;refseq.codingCoordStr_5=c.174A>G;refseq.codonCoord_1=892;refseq.codonCoord_2=838;refseq.codonCoord_3=139;refseq.codonCoord_4=37;refseq.codonCoord_5=58;refseq.end_1=17586279;refseq.end_2=17586279;refseq.end_3=17586279;refseq.end_4=17586279;refseq.end_5=17586279;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3150;refseq.mrnaCoord_2=2988;refseq.mrnaCoord_3=737;refseq.mrnaCoord_4=382;refseq.mrnaCoord_5=534;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name2_3=MTUS1;refseq.name2_4=MTUS1;refseq.name2_5=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.name_3=NM_001001931;refseq.name_4=NM_001166393;refseq.name_5=NM_020749;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T892T;refseq.proteinCoordStr_2=p.T838T;refseq.proteinCoordStr_3=p.T139T;refseq.proteinCoordStr_4=p.T37T;refseq.proteinCoordStr_5=p.T58T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.spliceDist_4=53;refseq.spliceDist_5=53;refseq.start_1=17586279;refseq.start_2=17586279;refseq.start_3=17586279;refseq.start_4=17586279;refseq.start_5=17586279;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/0 chr8 17645435 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2245C>G;refseq.codingCoordStr_2=c.2245C>G;refseq.codonCoord_1=749;refseq.codonCoord_2=749;refseq.end_1=17645435;refseq.end_2=17645435;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2719;refseq.mrnaCoord_2=2719;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R749G;refseq.proteinCoordStr_2=p.R749G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=17645435;refseq.start_2=17645435;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr8 17656166 . G A 226.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=7.39;MQ=98.92;MQ0=0;OQ=18808.83;QD=41.43;RankSumP=1.00000;SB=-8321.44;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1431C>T;refseq.codingCoordStr_2=c.1431C>T;refseq.codonCoord_1=477;refseq.codonCoord_2=477;refseq.end_1=17656166;refseq.end_2=17656166;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1905;refseq.mrnaCoord_2=1905;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P477P;refseq.proteinCoordStr_2=p.P477P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-661;refseq.spliceDist_2=-661;refseq.start_1=17656166;refseq.start_2=17656166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr8 17656736 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1028;Dels=0.00;HRun=4;HaplotypeScore=23.82;MQ=98.81;MQ0=0;OQ=43808.75;QD=42.62;RankSumP=1.00000;SB=-19603.33;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.861G>A;refseq.codingCoordStr_2=c.861G>A;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=17656736;refseq.end_2=17656736;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1335;refseq.mrnaCoord_2=1335;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K287K;refseq.proteinCoordStr_2=p.K287K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=1015;refseq.spliceDist_2=1015;refseq.start_1=17656736;refseq.start_2=17656736;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap-filterIngatk GT 1/1 chr8 17657126 . T C 117.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=620;Dels=0.00;HRun=0;HaplotypeScore=10.97;MQ=98.78;MQ0=0;OQ=12745.89;QD=20.56;RankSumP=0.188829;SB=-4854.45;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.471A>G;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=17657126;refseq.end_2=17657126;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=945;refseq.mrnaCoord_2=945;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L157L;refseq.proteinCoordStr_2=p.L157L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=625;refseq.spliceDist_2=625;refseq.start_1=17657126;refseq.start_2=17657126;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr8 17657155 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=1;HaplotypeScore=6.56;MQ=98.72;MQ0=0;OQ=11232.00;QD=20.06;RankSumP=0.0786528;SB=-3995.51;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.442T>C;refseq.codingCoordStr_2=c.442T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=17657155;refseq.end_2=17657155;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=916;refseq.mrnaCoord_2=916;refseq.name2_1=MTUS1;refseq.name2_2=MTUS1;refseq.name_1=NM_001001924;refseq.name_2=NM_001001925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C148R;refseq.proteinCoordStr_2=p.C148R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=596;refseq.spliceDist_2=596;refseq.start_1=17657155;refseq.start_2=17657155;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr8 17783818 . T C 347.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=7.23;MQ=98.91;MQ0=0;OQ=7902.83;QD=18.21;RankSumP=0.424786;SB=-2491.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.214A>G;refseq.codingCoordStr_2=c.214A>G;refseq.codingCoordStr_3=c.214A>G;refseq.codingCoordStr_4=c.214A>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=72;refseq.end_1=17783818;refseq.end_2=17783818;refseq.end_3=17783818;refseq.end_4=17783818;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=323;refseq.mrnaCoord_2=411;refseq.mrnaCoord_3=450;refseq.mrnaCoord_4=538;refseq.name2_1=FGL1;refseq.name2_2=FGL1;refseq.name2_3=FGL1;refseq.name2_4=FGL1;refseq.name_1=NM_004467;refseq.name_2=NM_147203;refseq.name_3=NM_201552;refseq.name_4=NM_201553;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I72V;refseq.proteinCoordStr_2=p.I72V;refseq.proteinCoordStr_3=p.I72V;refseq.proteinCoordStr_4=p.I72V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.start_1=17783818;refseq.start_2=17783818;refseq.start_3=17783818;refseq.start_4=17783818;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=Intersection GT 1/0 chr8 17787300 . G A 301.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=99.00;MQ0=0;OQ=8015.76;QD=20.77;RankSumP=0.406778;SB=-3340.71;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.44C>T;refseq.codingCoordStr_2=c.44C>T;refseq.codingCoordStr_3=c.44C>T;refseq.codingCoordStr_4=c.44C>T;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.codonCoord_4=15;refseq.end_1=17787300;refseq.end_2=17787300;refseq.end_3=17787300;refseq.end_4=17787300;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=153;refseq.mrnaCoord_2=241;refseq.mrnaCoord_3=280;refseq.mrnaCoord_4=368;refseq.name2_1=FGL1;refseq.name2_2=FGL1;refseq.name2_3=FGL1;refseq.name2_4=FGL1;refseq.name_1=NM_004467;refseq.name_2=NM_147203;refseq.name_3=NM_201552;refseq.name_4=NM_201553;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T15I;refseq.proteinCoordStr_2=p.T15I;refseq.proteinCoordStr_3=p.T15I;refseq.proteinCoordStr_4=p.T15I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.start_1=17787300;refseq.start_2=17787300;refseq.start_3=17787300;refseq.start_4=17787300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/0 chr8 17963214 . A G 225.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=8.33;MQ=98.52;MQ0=0;OQ=13419.33;QD=41.55;RankSumP=1.00000;SB=-5103.03;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.719T>C;refseq.codingCoordStr_2=c.785T>C;refseq.codingCoordStr_3=c.737T>C;refseq.codonCoord_1=240;refseq.codonCoord_2=262;refseq.codonCoord_3=246;refseq.end_1=17963214;refseq.end_2=17963214;refseq.end_3=17963214;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=916;refseq.mrnaCoord_2=982;refseq.mrnaCoord_3=1049;refseq.name2_1=ASAH1;refseq.name2_2=ASAH1;refseq.name2_3=ASAH1;refseq.name_1=NM_001127505;refseq.name_2=NM_004315;refseq.name_3=NM_177924;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V240A;refseq.proteinCoordStr_2=p.V262A;refseq.proteinCoordStr_3=p.V246A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=17963214;refseq.start_2=17963214;refseq.start_3=17963214;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr8 17971607 . T C 273.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.99;MQ0=0;OQ=2632.63;QD=16.88;RankSumP=0.351524;SB=-1047.23;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.325A>G;refseq.codingCoordStr_3=c.277A>G;refseq.codonCoord_2=109;refseq.codonCoord_3=93;refseq.end_1=17973078;refseq.end_2=17971607;refseq.end_3=17971607;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=522;refseq.mrnaCoord_3=589;refseq.name2_1=ASAH1;refseq.name2_2=ASAH1;refseq.name2_3=ASAH1;refseq.name_1=NM_001127505;refseq.name_2=NM_004315;refseq.name_3=NM_177924;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I109V;refseq.proteinCoordStr_3=p.I93V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=17969098;refseq.start_2=17971607;refseq.start_3=17971607;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/0 chr8 17973091 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=6.94;MQ=99.00;MQ0=0;OQ=931.79;QD=13.12;RankSumP=0.665584;SB=-282.56;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.283G>A;refseq.codingCoordStr_2=c.262G>A;refseq.codingCoordStr_3=c.214G>A;refseq.codonCoord_1=95;refseq.codonCoord_2=88;refseq.codonCoord_3=72;refseq.end_1=17973091;refseq.end_2=17973091;refseq.end_3=17973091;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=459;refseq.mrnaCoord_3=526;refseq.name2_1=ASAH1;refseq.name2_2=ASAH1;refseq.name2_3=ASAH1;refseq.name_1=NM_001127505;refseq.name_2=NM_004315;refseq.name_3=NM_177924;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V95M;refseq.proteinCoordStr_2=p.V88M;refseq.proteinCoordStr_3=p.V72M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.start_1=17973091;refseq.start_2=17973091;refseq.start_3=17973091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr8 18302134 . T C 198.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=98.71;MQ0=0;OQ=2820.35;QD=22.56;RankSumP=0.389076;SB=-870.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.341T>C;refseq.codonCoord=114;refseq.end=18302134;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_000015;refseq.name2=NAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I114T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=347;refseq.start=18302134;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr8 18302274 . C T 183.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2382.48;QD=17.78;RankSumP=0.282948;SB=-1181.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.481C>T;refseq.codonCoord=161;refseq.end=18302274;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_000015;refseq.name2=NAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L161L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=487;refseq.start=18302274;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr8 18302596 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1848.20;QD=18.12;RankSumP=0.354705;SB=-788.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.803G>A;refseq.codonCoord=268;refseq.end=18302596;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_000015;refseq.name2=NAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R268K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-408;refseq.start=18302596;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr8 18773608 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=498;Dels=0.00;HRun=3;HaplotypeScore=31.86;MQ=98.79;MQ0=0;OQ=9852.44;QD=19.78;RankSumP=0.310194;SB=-2403.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1046G>T;refseq.codonCoord=349;refseq.end=18773608;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_015310;refseq.name2=PSD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G349V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-193;refseq.start=18773608;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 1/0 chr8 18773669 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.985A>C;refseq.codonCoord=329;refseq.end=18773669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_015310;refseq.name2=PSD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T329P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-254;refseq.start=18773669;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 18774097 . G A 240.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=5.61;MQ=98.83;MQ0=0;OQ=5137.45;QD=20.97;RankSumP=2.01923e-07;SB=-1583.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.557C>T;refseq.codonCoord=186;refseq.end=18774097;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_015310;refseq.name2=PSD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T186M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=427;refseq.start=18774097;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=filterInsoap-gatk GT 1/0 chr8 18774098 . T G 263.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=4.61;MQ=98.83;MQ0=0;OQ=4977.99;QD=20.24;RankSumP=0.00000;SB=-1552.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.556A>C;refseq.codonCoord=186;refseq.end=18774098;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_015310;refseq.name2=PSD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T186P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=426;refseq.start=18774098;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr8 19221383 . A G 366.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.75;MQ0=0;OQ=4599.58;QD=18.40;RankSumP=0.130886;SB=-1693.35;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.45A>G;refseq.codingCoordStr_3=c.45A>G;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.end_1=19234735;refseq.end_2=19221383;refseq.end_3=19221383;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=353;refseq.mrnaCoord_3=503;refseq.name2_1=SH2D4A;refseq.name2_2=SH2D4A;refseq.name2_3=SH2D4A;refseq.name_1=NM_001174160;refseq.name_2=NM_001174159;refseq.name_3=NM_022071;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L15L;refseq.proteinCoordStr_3=p.L15L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_2=-137;refseq.spliceDist_3=-137;refseq.start_1=19215625;refseq.start_2=19221383;refseq.start_3=19221383;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr8 19221386 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.388887;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.48G>T;refseq.codingCoordStr_3=c.48G>T;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.end_1=19234735;refseq.end_2=19221386;refseq.end_3=19221386;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=506;refseq.name2_1=SH2D4A;refseq.name2_2=SH2D4A;refseq.name2_3=SH2D4A;refseq.name_1=NM_001174160;refseq.name_2=NM_001174159;refseq.name_3=NM_022071;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L16L;refseq.proteinCoordStr_3=p.L16L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=-134;refseq.spliceDist_3=-134;refseq.start_1=19215625;refseq.start_2=19221386;refseq.start_3=19221386;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=FilteredInAll GT 0/1 chr8 19407048 . C T 192.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=4.45;MQ=98.85;MQ0=0;OQ=5810.48;QD=17.29;RankSumP=0.236707;SB=-2373.83;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.578G>A;refseq.codingCoordStr_3=c.578G>A;refseq.codonCoord_2=193;refseq.codonCoord_3=193;refseq.end_1=19407048;refseq.end_2=19407048;refseq.end_3=19407048;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1024;refseq.mrnaCoord_2=1642;refseq.mrnaCoord_3=1232;refseq.name2_1=CSGALNACT1;refseq.name2_2=CSGALNACT1;refseq.name2_3=CSGALNACT1;refseq.name_1=NR_024040;refseq.name_2=NM_001130518;refseq.name_3=NM_018371;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S193N;refseq.proteinCoordStr_3=p.S193N;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=19407048;refseq.start_2=19407048;refseq.start_3=19407048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 0/1 chr8 20080993 . A G 460.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.30;MQ0=0;OQ=8173.69;QD=40.87;RankSumP=1.00000;SB=-2253.91;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.407T>C;refseq.codingCoordStr_2=c.407T>C;refseq.codingCoordStr_3=c.407T>C;refseq.codingCoordStr_4=c.407T>C;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.codonCoord_3=136;refseq.codonCoord_4=136;refseq.end_1=20080993;refseq.end_2=20080993;refseq.end_3=20080993;refseq.end_4=20080993;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=878;refseq.mrnaCoord_2=878;refseq.mrnaCoord_3=878;refseq.mrnaCoord_4=674;refseq.name2_1=SLC18A1;refseq.name2_2=SLC18A1;refseq.name2_3=SLC18A1;refseq.name2_4=SLC18A1;refseq.name_1=NM_001135691;refseq.name_2=NM_001142324;refseq.name_3=NM_001142325;refseq.name_4=NM_003053;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I136T;refseq.proteinCoordStr_2=p.I136T;refseq.proteinCoordStr_3=p.I136T;refseq.proteinCoordStr_4=p.I136T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.spliceDist_3=-82;refseq.spliceDist_4=-82;refseq.start_1=20080993;refseq.start_2=20080993;refseq.start_3=20080993;refseq.start_4=20080993;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chr8 20081064 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.336T>C;refseq.codingCoordStr_2=c.336T>C;refseq.codingCoordStr_3=c.336T>C;refseq.codingCoordStr_4=c.336T>C;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.codonCoord_4=112;refseq.end_1=20081064;refseq.end_2=20081064;refseq.end_3=20081064;refseq.end_4=20081064;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=807;refseq.mrnaCoord_3=807;refseq.mrnaCoord_4=603;refseq.name2_1=SLC18A1;refseq.name2_2=SLC18A1;refseq.name2_3=SLC18A1;refseq.name2_4=SLC18A1;refseq.name_1=NM_001135691;refseq.name_2=NM_001142324;refseq.name_3=NM_001142325;refseq.name_4=NM_003053;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P112P;refseq.proteinCoordStr_2=p.P112P;refseq.proteinCoordStr_3=p.P112P;refseq.proteinCoordStr_4=p.P112P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=-153;refseq.spliceDist_2=-153;refseq.spliceDist_3=-153;refseq.spliceDist_4=-153;refseq.start_1=20081064;refseq.start_2=20081064;refseq.start_3=20081064;refseq.start_4=20081064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr8 20081107 . C G 258.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=11.67;MQ=97.52;MQ0=0;OQ=3882.66;QD=16.74;RankSumP=0.141565;SB=-870.05;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.293G>C;refseq.codingCoordStr_2=c.293G>C;refseq.codingCoordStr_3=c.293G>C;refseq.codingCoordStr_4=c.293G>C;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.codonCoord_3=98;refseq.codonCoord_4=98;refseq.end_1=20081107;refseq.end_2=20081107;refseq.end_3=20081107;refseq.end_4=20081107;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=764;refseq.mrnaCoord_2=764;refseq.mrnaCoord_3=764;refseq.mrnaCoord_4=560;refseq.name2_1=SLC18A1;refseq.name2_2=SLC18A1;refseq.name2_3=SLC18A1;refseq.name2_4=SLC18A1;refseq.name_1=NM_001135691;refseq.name_2=NM_001142324;refseq.name_3=NM_001142325;refseq.name_4=NM_003053;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S98T;refseq.proteinCoordStr_2=p.S98T;refseq.proteinCoordStr_3=p.S98T;refseq.proteinCoordStr_4=p.S98T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=169;refseq.spliceDist_2=169;refseq.spliceDist_3=169;refseq.spliceDist_4=169;refseq.start_1=20081107;refseq.start_2=20081107;refseq.start_3=20081107;refseq.start_4=20081107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/0 chr8 20082746 . T G 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=97.98;MQ0=0;OQ=137.33;QD=5.97;RankSumP=0.385652;SB=-40.98;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.10A>C;refseq.codingCoordStr_2=c.10A>C;refseq.codingCoordStr_3=c.10A>C;refseq.codingCoordStr_4=c.10A>C;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.codonCoord_3=4;refseq.codonCoord_4=4;refseq.end_1=20082746;refseq.end_2=20082746;refseq.end_3=20082746;refseq.end_4=20082746;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=481;refseq.mrnaCoord_2=481;refseq.mrnaCoord_3=481;refseq.mrnaCoord_4=277;refseq.name2_1=SLC18A1;refseq.name2_2=SLC18A1;refseq.name2_3=SLC18A1;refseq.name2_4=SLC18A1;refseq.name_1=NM_001135691;refseq.name_2=NM_001142324;refseq.name_3=NM_001142325;refseq.name_4=NM_003053;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T4P;refseq.proteinCoordStr_2=p.T4P;refseq.proteinCoordStr_3=p.T4P;refseq.proteinCoordStr_4=p.T4P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-115;refseq.spliceDist_2=-115;refseq.spliceDist_3=-115;refseq.spliceDist_4=-115;refseq.start_1=20082746;refseq.start_2=20082746;refseq.start_3=20082746;refseq.start_4=20082746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/0 chr8 22039065 . C G 71 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=2.68771e-05;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1531G>C;refseq.codingCoordStr_2=c.1531G>C;refseq.codonCoord_1=511;refseq.codonCoord_2=511;refseq.end_1=22039065;refseq.end_2=22039065;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2196;refseq.mrnaCoord_2=2196;refseq.name2_1=HR;refseq.name2_2=HR;refseq.name_1=NM_005144;refseq.name_2=NM_018411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A511P;refseq.proteinCoordStr_2=p.A511P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=22039065;refseq.start_2=22039065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr8 22039067 . T G 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.500310;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1529A>C;refseq.codingCoordStr_2=c.1529A>C;refseq.codonCoord_1=510;refseq.codonCoord_2=510;refseq.end_1=22039067;refseq.end_2=22039067;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2194;refseq.mrnaCoord_2=2194;refseq.name2_1=HR;refseq.name2_2=HR;refseq.name_1=NM_005144;refseq.name_2=NM_018411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H510P;refseq.proteinCoordStr_2=p.H510P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=22039067;refseq.start_2=22039067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr8 22040595 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=2;HaplotypeScore=11.39;MQ=98.58;MQ0=0;OQ=4088.51;QD=17.93;RankSumP=0.00123342;SB=-1147.20;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1305T>C;refseq.codingCoordStr_2=c.1305T>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=22040595;refseq.end_2=22040595;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1970;refseq.mrnaCoord_2=1970;refseq.name2_1=HR;refseq.name2_2=HR;refseq.name_1=NM_005144;refseq.name_2=NM_018411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F435F;refseq.proteinCoordStr_2=p.F435F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.start_1=22040595;refseq.start_2=22040595;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 0/1 chr8 22040890 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=99.00;MQ0=0;OQ=465.57;QD=18.62;RankSumP=0.511451;SB=-119.61;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1010G>A;refseq.codingCoordStr_2=c.1010G>A;refseq.codonCoord_1=337;refseq.codonCoord_2=337;refseq.end_1=22040890;refseq.end_2=22040890;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1675;refseq.mrnaCoord_2=1675;refseq.name2_1=HR;refseq.name2_2=HR;refseq.name_1=NM_005144;refseq.name_2=NM_018411;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G337D;refseq.proteinCoordStr_2=p.G337D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-396;refseq.spliceDist_2=-396;refseq.start_1=22040890;refseq.start_2=22040890;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr8 22062205 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1060A>C;refseq.codonCoord=354;refseq.end=22062205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_139278;refseq.name2=LGI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T354P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=231;refseq.start=22062205;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 22065324 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.629A>C;refseq.codonCoord=210;refseq.end=22065324;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_139278;refseq.name2=LGI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D210A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-36;refseq.start=22065324;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr8 22076982 . C A 336.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.98;MQ0=0;OQ=6496.79;QD=38.22;RankSumP=1.00000;SB=-2157.28;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.413C>A;refseq.codingCoordStr_2=c.413C>A;refseq.codingCoordStr_3=c.413C>A;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.codonCoord_3=138;refseq.end_1=22076982;refseq.end_2=22076982;refseq.end_3=22076982;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=571;refseq.mrnaCoord_2=571;refseq.mrnaCoord_3=571;refseq.name2_1=SFTPC;refseq.name2_2=SFTPC;refseq.name2_3=SFTPC;refseq.name_1=NM_001172357;refseq.name_2=NM_001172410;refseq.name_3=NM_003018;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T138N;refseq.proteinCoordStr_2=p.T138N;refseq.proteinCoordStr_3=p.T138N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=22076982;refseq.start_2=22076982;refseq.start_3=22076982;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr8 22077462 . G A 331.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=3.05;MQ=98.89;MQ0=0;OQ=3364.16;QD=39.58;RankSumP=1.00000;SB=-1598.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.539G>A;refseq.codingCoordStr_2=c.557G>A;refseq.codingCoordStr_3=c.557G>A;refseq.codonCoord_1=180;refseq.codonCoord_2=186;refseq.codonCoord_3=186;refseq.end_1=22077462;refseq.end_2=22077462;refseq.end_3=22077462;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=715;refseq.mrnaCoord_3=715;refseq.name2_1=SFTPC;refseq.name2_2=SFTPC;refseq.name2_3=SFTPC;refseq.name_1=NM_001172357;refseq.name_2=NM_001172410;refseq.name_3=NM_003018;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S180N;refseq.proteinCoordStr_2=p.S186N;refseq.proteinCoordStr_3=p.S186N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=104;refseq.spliceDist_2=-48;refseq.spliceDist_3=-56;refseq.start_1=22077462;refseq.start_2=22077462;refseq.start_3=22077462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/1 chr8 22135300 . A G 211.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=471.76;QD=33.70;RankSumP=1.00000;SB=-132.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.504T>C;refseq.codingCoordStr_2=c.504T>C;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.end_1=22135300;refseq.end_2=22135300;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1198;refseq.mrnaCoord_2=1076;refseq.name2_1=PHYHIP;refseq.name2_2=PHYHIP;refseq.name_1=NM_001099335;refseq.name_2=NM_014759;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S168S;refseq.proteinCoordStr_2=p.S168S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=22135300;refseq.start_2=22135300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr8 22140448 . C T 129.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=97.18;MQ0=0;OQ=1718.75;QD=15.21;RankSumP=0.356542;SB=-517.48;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.201G>A;refseq.codingCoordStr_2=c.201G>A;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.end_1=22140448;refseq.end_2=22140448;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=895;refseq.mrnaCoord_2=773;refseq.name2_1=PHYHIP;refseq.name2_2=PHYHIP;refseq.name_1=NM_001099335;refseq.name_2=NM_014759;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P67P;refseq.proteinCoordStr_2=p.P67P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=22140448;refseq.start_2=22140448;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr8 22161447 . T C 194.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=2.58;MQ=98.59;MQ0=0;OQ=4082.65;QD=16.80;RankSumP=0.434735;SB=-785.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.342T>C;refseq.codonCoord=114;refseq.end=22161447;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_001722;refseq.name2=POLR3D;refseq.positionType=CDS;refseq.proteinCoordStr=p.A114A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-20;refseq.start=22161447;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr8 22201016 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=363;Dels=0.00;HRun=2;HaplotypeScore=13.59;MQ=98.86;MQ0=0;OQ=7649.94;QD=21.07;RankSumP=0.255615;SB=-3074.80;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.774C>T;refseq.codingCoordStr_2=c.774C>T;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.end_1=22201016;refseq.end_2=22201016;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1283;refseq.mrnaCoord_2=922;refseq.name2_1=PIWIL2;refseq.name2_2=PIWIL2;refseq.name_1=NM_001135721;refseq.name_2=NM_018068;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F258F;refseq.proteinCoordStr_2=p.F258F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=22201016;refseq.start_2=22201016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr8 22318266 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=3;HaplotypeScore=2.74;MQ=98.84;MQ0=0;OQ=2074.18;QD=15.48;RankSumP=0.208217;SB=-969.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.98T>C;refseq.codingCoordStr_2=c.98T>C;refseq.codingCoordStr_3=c.98T>C;refseq.codingCoordStr_4=c.98T>C;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.codonCoord_4=33;refseq.end_1=22318266;refseq.end_2=22318266;refseq.end_3=22318266;refseq.end_4=22318266;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=273;refseq.mrnaCoord_2=314;refseq.mrnaCoord_3=273;refseq.mrnaCoord_4=273;refseq.name2_1=SLC39A14;refseq.name2_2=SLC39A14;refseq.name2_3=SLC39A14;refseq.name2_4=SLC39A14;refseq.name_1=NM_001128431;refseq.name_2=NM_001135153;refseq.name_3=NM_001135154;refseq.name_4=NM_015359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L33P;refseq.proteinCoordStr_2=p.L33P;refseq.proteinCoordStr_3=p.L33P;refseq.proteinCoordStr_4=p.L33P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.spliceDist_4=113;refseq.start_1=22318266;refseq.start_2=22318266;refseq.start_3=22318266;refseq.start_4=22318266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr8 22318363 . A G 133.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.64;MQ0=0;OQ=1569.63;QD=12.26;RankSumP=0.0487609;SB=-798.59;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.195A>G;refseq.codingCoordStr_2=c.195A>G;refseq.codingCoordStr_3=c.195A>G;refseq.codingCoordStr_4=c.195A>G;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.codonCoord_3=65;refseq.codonCoord_4=65;refseq.end_1=22318363;refseq.end_2=22318363;refseq.end_3=22318363;refseq.end_4=22318363;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=411;refseq.mrnaCoord_3=370;refseq.mrnaCoord_4=370;refseq.name2_1=SLC39A14;refseq.name2_2=SLC39A14;refseq.name2_3=SLC39A14;refseq.name2_4=SLC39A14;refseq.name_1=NM_001128431;refseq.name_2=NM_001135153;refseq.name_3=NM_001135154;refseq.name_4=NM_015359;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L65L;refseq.proteinCoordStr_2=p.L65L;refseq.proteinCoordStr_3=p.L65L;refseq.proteinCoordStr_4=p.L65L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.spliceDist_4=-76;refseq.start_1=22318363;refseq.start_2=22318363;refseq.start_3=22318363;refseq.start_4=22318363;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 0/1 chr8 22436135 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.871C>A;refseq.codonCoord=291;refseq.end=22436135;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_005605;refseq.name2=PPP3CC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q291K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=23;refseq.start=22436135;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr8 22484603 . T C 204.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=97.69;MQ0=0;OQ=3074.15;QD=34.54;RankSumP=1.00000;SB=-901.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.641T>C;refseq.codingCoordStr_2=c.1667T>C;refseq.codonCoord_1=214;refseq.codonCoord_2=556;refseq.end_1=22484603;refseq.end_2=22484603;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=924;refseq.mrnaCoord_2=2007;refseq.name2_1=SORBS3;refseq.name2_2=SORBS3;refseq.name_1=NM_001018003;refseq.name_2=NM_005775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I214T;refseq.proteinCoordStr_2=p.I556T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=22484603;refseq.start_2=22484603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr8 22484653 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=16.43;MQ=96.76;MQ0=0;OQ=823.95;QD=5.84;RankSumP=0.0818767;SB=-75.59;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.691A>G;refseq.codingCoordStr_2=c.1717A>G;refseq.codonCoord_1=231;refseq.codonCoord_2=573;refseq.end_1=22484653;refseq.end_2=22484653;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=974;refseq.mrnaCoord_2=2057;refseq.name2_1=SORBS3;refseq.name2_2=SORBS3;refseq.name_1=NM_001018003;refseq.name_2=NM_005775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T231A;refseq.proteinCoordStr_2=p.T573A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=22484653;refseq.start_2=22484653;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr8 22498606 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=97.95;MQ0=0;OQ=651.41;QD=8.14;RankSumP=0.381614;SB=-220.44;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.447A>G;refseq.codingCoordStr_2=c.447A>G;refseq.codingCoordStr_3=c.447A>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.codonCoord_3=149;refseq.end_1=22498606;refseq.end_2=22498606;refseq.end_3=22498606;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=847;refseq.mrnaCoord_2=581;refseq.mrnaCoord_3=581;refseq.name2_1=PDLIM2;refseq.name2_2=PDLIM2;refseq.name2_3=PDLIM2;refseq.name_1=NM_021630;refseq.name_2=NM_176871;refseq.name_3=NM_198042;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A149A;refseq.proteinCoordStr_2=p.A149A;refseq.proteinCoordStr_3=p.A149A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=22498606;refseq.start_2=22498606;refseq.start_3=22498606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 0/1 chr8 22505126 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=97.83;MQ0=0;OQ=808.98;QD=16.85;RankSumP=0.593457;SB=-372.38;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.881C>T;refseq.codingCoordStr_3=c.881C>T;refseq.codonCoord_2=294;refseq.codonCoord_3=294;refseq.end_1=22507180;refseq.end_2=22505126;refseq.end_3=22505126;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1281;refseq.mrnaCoord_3=1015;refseq.name2_1=PDLIM2;refseq.name2_2=PDLIM2;refseq.name2_3=PDLIM2;refseq.name_1=NM_198042;refseq.name_2=NM_021630;refseq.name_3=NM_176871;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A294V;refseq.proteinCoordStr_3=p.A294V;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.start_1=22503210;refseq.start_2=22505126;refseq.start_3=22505126;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 0/1 chr8 22531890 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2157C>A;refseq.codingCoordStr_2=c.2157C>A;refseq.codonCoord_1=719;refseq.codonCoord_2=719;refseq.end_1=22531890;refseq.end_2=22531890;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2576;refseq.mrnaCoord_2=2294;refseq.name2_1=KIAA1967;refseq.name2_2=KIAA1967;refseq.name_1=NM_021174;refseq.name_2=NM_199205;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y719*;refseq.proteinCoordStr_2=p.Y719*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=22531890;refseq.start_2=22531890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr8 22626880 . T C 100.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=3.20;MQ=95.58;MQ0=0;OQ=1476.00;QD=12.83;RankSumP=0.496437;SB=-530.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.632A>G;refseq.codonCoord=211;refseq.end=22626880;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_144962;refseq.name2=PEBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E211G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=115;refseq.start=22626880;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr8 22626963 . A G 317.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=97.68;MQ0=0;OQ=3153.48;QD=16.34;RankSumP=0.205238;SB=-1530.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.549T>C;refseq.codonCoord=183;refseq.end=22626963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_144962;refseq.name2=PEBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R183R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=32;refseq.start=22626963;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr8 22640663 . T C 127.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=8.28;MQ=98.88;MQ0=0;OQ=2911.18;QD=20.65;RankSumP=0.335867;SB=-982.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.373A>G;refseq.codonCoord=125;refseq.end=22640663;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_144962;refseq.name2=PEBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K125E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=16;refseq.start=22640663;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr8 22841104 . G A 196.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=10.88;MQ=98.75;MQ0=0;OQ=10482.74;QD=20.64;RankSumP=0.322436;SB=-4287.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.69C>T;refseq.codonCoord=23;refseq.end=22841104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_144962;refseq.name2=PEBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D23D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-63;refseq.start=22841104;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr8 22941851 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.686T>G;refseq.codingCoordStr_3=c.599T>G;refseq.codonCoord_2=229;refseq.codonCoord_3=200;refseq.end_1=22941851;refseq.end_2=22941851;refseq.end_3=22941851;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=786;refseq.mrnaCoord_2=979;refseq.mrnaCoord_3=892;refseq.name2_1=TNFRSF10B;refseq.name2_2=TNFRSF10B;refseq.name2_3=TNFRSF10B;refseq.name_1=NR_027140;refseq.name_2=NM_003842;refseq.name_3=NM_147187;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V229G;refseq.proteinCoordStr_3=p.V200G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=49;refseq.spliceDist_2=-63;refseq.spliceDist_3=49;refseq.start_1=22941851;refseq.start_2=22941851;refseq.start_3=22941851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr8 22941965 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=475;Dels=0.00;HRun=3;HaplotypeScore=32.16;MQ=98.52;MQ0=0;OQ=8289.39;QD=17.45;RankSumP=3.10749e-07;SB=-2742.69;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_3=c.572T>C;refseq.codonCoord_3=191;refseq.end_1=22941976;refseq.end_2=22941976;refseq.end_3=22941965;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=865;refseq.name2_1=TNFRSF10B;refseq.name2_2=TNFRSF10B;refseq.name2_3=TNFRSF10B;refseq.name_1=NM_147187;refseq.name_2=NR_027140;refseq.name_3=NM_003842;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V191A;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTC;refseq.spliceDist_3=96;refseq.start_1=22941910;refseq.start_2=22941910;refseq.start_3=22941965;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCC;set=filterInsoap-gatk GT 0/1 chr8 23030270 . G A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=37.22;MQ=27.47;MQ0=93;OQ=7959.42;QD=19.70;RankSumP=0.104652;SB=-3407.84;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.561G>A;refseq.codonCoord=187;refseq.end=23030270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_003841;refseq.name2=TNFRSF10C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P187P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=172;refseq.start=23030270;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr8 23030315 . G A 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=0;RankSumP=0.191338;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.606G>A;refseq.codonCoord=202;refseq.end=23030315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_003841;refseq.name2=TNFRSF10C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P202P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=217;refseq.start=23030315;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr8 23030395 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=378;Dels=0.00;HRun=1;HaplotypeScore=11.29;MQ=90.42;MQ0=24;OQ=12838.63;QD=33.96;RankSumP=1.00000;SB=-4746.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.686T>C;refseq.codonCoord=229;refseq.end=23030395;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_003841;refseq.name2=TNFRSF10C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I229T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=297;refseq.start=23030395;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr8 23058035 . C T 149.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.80;MQ0=0;OQ=1075.12;QD=18.86;RankSumP=0.0679929;SB=-504.54;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.827G>A;refseq.codonCoord=276;refseq.end=23058035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_003840;refseq.name2=TNFRSF10D;refseq.positionType=CDS;refseq.proteinCoordStr=p.R276H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=59;refseq.start=23058035;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr8 23105237 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=2;HaplotypeScore=13.31;MQ=98.55;MQ0=0;OQ=17091.46;QD=41.89;RankSumP=1.00000;SB=-3941.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1322G>A;refseq.codonCoord=441;refseq.end=23105237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_003844;refseq.name2=TNFRSF10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R441K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=235;refseq.start=23105237;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr8 23115269 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=16.74;MQ=98.11;MQ0=0;OQ=3148.51;QD=14.99;RankSumP=0.327507;SB=-716.96;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.626G>C;refseq.codonCoord=209;refseq.end=23115269;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_003844;refseq.name2=TNFRSF10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R209T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=23115269;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr8 23116201 . T C 193.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=19.20;MQ=98.76;MQ0=0;OQ=8135.23;QD=18.04;RankSumP=0.480575;SB=-1800.92;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.422A>G;refseq.codonCoord=141;refseq.end=23116201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_003844;refseq.name2=TNFRSF10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H141R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=19;refseq.start=23116201;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr8 23223133 . A G 10.14 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=0.92;RankSumP=0.104545;SB=-17.88;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1873T>C;refseq.codonCoord=625;refseq.end=23223133;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2212;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C625R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=23223133;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 0/1 chr8 23223298 . T G 115.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=6.20;MQ=98.14;MQ0=0;OQ=1300.30;QD=13.13;RankSumP=0.408842;SB=-635.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1708A>C;refseq.codonCoord=570;refseq.end=23223298;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2047;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M570L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=72;refseq.start=23223298;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr8 23233491 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.240362;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1322G>A;refseq.codonCoord=441;refseq.end=23233491;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1661;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R441H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=20;refseq.start=23233491;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr8 23241952 . T C 17.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=98.54;MQ0=0;OQ=2928.37;QD=10.61;RankSumP=0.00000;SB=-1000.25;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1038A>G;refseq.codonCoord=346;refseq.end=23241952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E346E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=72;refseq.start=23241952;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/0 chr8 23281504 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=7.09;MQ=98.63;MQ0=0;OQ=1927.55;QD=13.11;RankSumP=0.321703;SB=-846.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=23281504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=645;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y102Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-50;refseq.start=23281504;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr8 23281690 . C T 280.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=98.82;MQ0=0;OQ=1622.48;QD=16.73;RankSumP=0.252161;SB=-726.40;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.120G>A;refseq.codonCoord=40;refseq.end=23281690;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_002318;refseq.name2=LOXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P40P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=203;refseq.start=23281690;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr8 23346396 . C T 41.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.09;MQ0=0;QD=6.87;RankSumP=0.350000;SB=-6.99;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1815G>A;refseq.codingCoordStr_2=c.1839G>A;refseq.codonCoord_1=605;refseq.codonCoord_2=613;refseq.end_1=23346396;refseq.end_2=23346396;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2087;refseq.mrnaCoord_2=2003;refseq.name2_1=ENTPD4;refseq.name2_2=ENTPD4;refseq.name_1=NM_001128930;refseq.name_2=NM_004901;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P605P;refseq.proteinCoordStr_2=p.P613P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=217;refseq.spliceDist_2=217;refseq.start_1=23346396;refseq.start_2=23346396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=soap-filterIngatk GT 0/1 chr8 23347780 . T C 132.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=1452.32;QD=13.96;RankSumP=0.340861;SB=-508.98;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1593A>G;refseq.codingCoordStr_2=c.1617A>G;refseq.codonCoord_1=531;refseq.codonCoord_2=539;refseq.end_1=23347780;refseq.end_2=23347780;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1865;refseq.mrnaCoord_2=1781;refseq.name2_1=ENTPD4;refseq.name2_2=ENTPD4;refseq.name_1=NM_001128930;refseq.name_2=NM_004901;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P531P;refseq.proteinCoordStr_2=p.P539P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=23347780;refseq.start_2=23347780;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr8 23348930 . A G 269.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.97;MQ0=0;OQ=2762.91;QD=15.97;RankSumP=0.367579;SB=-852.71;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1356T>C;refseq.codingCoordStr_2=c.1380T>C;refseq.codonCoord_1=452;refseq.codonCoord_2=460;refseq.end_1=23348930;refseq.end_2=23348930;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1628;refseq.mrnaCoord_2=1544;refseq.name2_1=ENTPD4;refseq.name2_2=ENTPD4;refseq.name_1=NM_001128930;refseq.name_2=NM_004901;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y452Y;refseq.proteinCoordStr_2=p.Y460Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=23348930;refseq.start_2=23348930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr8 24267276 . G A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=494;Dels=0.00;HRun=1;HaplotypeScore=7.79;MQ=98.61;MQ0=0;OQ=21088.35;QD=42.69;RankSumP=1.00000;SB=-8592.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2293G>A;refseq.codonCoord=765;refseq.end=24267276;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2376;refseq.name=NM_014265;refseq.name2=ADAM28;refseq.positionType=CDS;refseq.proteinCoordStr=p.V765M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-15;refseq.start=24267276;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr8 24311997 . C T 277.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=99.00;MQ0=0;OQ=3101.09;QD=16.76;RankSumP=0.116747;SB=-1299.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.513C>T;refseq.codingCoordStr_2=c.513C>T;refseq.codingCoordStr_3=c.750C>T;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.codonCoord_3=250;refseq.end_1=24311997;refseq.end_2=24311997;refseq.end_3=24311997;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=851;refseq.mrnaCoord_3=970;refseq.name2_1=ADAMDEC1;refseq.name2_2=ADAMDEC1;refseq.name2_3=ADAMDEC1;refseq.name_1=NM_001145271;refseq.name_2=NM_001145272;refseq.name_3=NM_014479;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N171N;refseq.proteinCoordStr_2=p.N171N;refseq.proteinCoordStr_3=p.N250N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=24311997;refseq.start_2=24311997;refseq.start_3=24311997;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 0/1 chr8 24312415 . C T 344.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=98.84;MQ0=0;OQ=6725.69;QD=21.35;RankSumP=0.0941627;SB=-2313.36;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.609C>T;refseq.codingCoordStr_2=c.609C>T;refseq.codingCoordStr_3=c.846C>T;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.codonCoord_3=282;refseq.end_1=24312415;refseq.end_2=24312415;refseq.end_3=24312415;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1156;refseq.mrnaCoord_2=947;refseq.mrnaCoord_3=1066;refseq.name2_1=ADAMDEC1;refseq.name2_2=ADAMDEC1;refseq.name2_3=ADAMDEC1;refseq.name_1=NM_001145271;refseq.name_2=NM_001145272;refseq.name_3=NM_014479;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S203S;refseq.proteinCoordStr_2=p.S203S;refseq.proteinCoordStr_3=p.S282S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.spliceDist_3=-84;refseq.start_1=24312415;refseq.start_2=24312415;refseq.start_3=24312415;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr8 24317471 . A G 345.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=98.86;MQ0=0;OQ=5678.45;QD=18.80;RankSumP=0.397758;SB=-1538.29;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1094A>G;refseq.codingCoordStr_2=c.1094A>G;refseq.codingCoordStr_3=c.1331A>G;refseq.codonCoord_1=365;refseq.codonCoord_2=365;refseq.codonCoord_3=444;refseq.end_1=24317471;refseq.end_2=24317471;refseq.end_3=24317471;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1641;refseq.mrnaCoord_2=1432;refseq.mrnaCoord_3=1551;refseq.name2_1=ADAMDEC1;refseq.name2_2=ADAMDEC1;refseq.name2_3=ADAMDEC1;refseq.name_1=NM_001145271;refseq.name_2=NM_001145272;refseq.name_3=NM_014479;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N365S;refseq.proteinCoordStr_2=p.N365S;refseq.proteinCoordStr_3=p.N444S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=24317471;refseq.start_2=24317471;refseq.start_3=24317471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr8 24395569 . G A 211.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1170.20;QD=18.00;RankSumP=0.331280;SB=-457.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.730G>A;refseq.codonCoord=244;refseq.end=24395569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_003817;refseq.name2=ADAM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V244M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=25;refseq.start=24395569;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr8 24412708 . A C 230.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=3.26;MQ=98.88;MQ0=0;OQ=6819.18;QD=20.30;RankSumP=0.469843;SB=-2301.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1912A>C;refseq.codonCoord=638;refseq.end=24412708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2025;refseq.name=NM_003817;refseq.name2=ADAM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N638H;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-12;refseq.start=24412708;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr8 24414958 . G A 122.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.75;MQ0=0;OQ=1206.88;QD=16.09;RankSumP=0.192268;SB=-354.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2187G>A;refseq.codonCoord=729;refseq.end=24414958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2300;refseq.name=NM_003817;refseq.name2=ADAM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L729L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-22;refseq.start=24414958;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr8 24830588 . C A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=3;HaplotypeScore=5.33;MQ=98.97;MQ0=0;OQ=7345.45;QD=38.86;RankSumP=1.00000;SB=-2906.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.187C>A;refseq.codingCoordStr_2=c.1315C>A;refseq.codonCoord_1=63;refseq.codonCoord_2=439;refseq.end_1=24830588;refseq.end_2=24830588;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=591;refseq.mrnaCoord_2=1348;refseq.name2_1=NEFM;refseq.name2_2=NEFM;refseq.name_1=NM_001105541;refseq.name_2=NM_005382;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P63T;refseq.proteinCoordStr_2=p.P439T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.start_1=24830588;refseq.start_2=24830588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr8 24830693 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.42611e-09;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.292A>C;refseq.codingCoordStr_2=c.1420A>C;refseq.codonCoord_1=98;refseq.codonCoord_2=474;refseq.end_1=24830693;refseq.end_2=24830693;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=696;refseq.mrnaCoord_2=1453;refseq.name2_1=NEFM;refseq.name2_2=NEFM;refseq.name_1=NM_001105541;refseq.name_2=NM_005382;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T98P;refseq.proteinCoordStr_2=p.T474P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=215;refseq.spliceDist_2=215;refseq.start_1=24830693;refseq.start_2=24830693;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr8 25336717 . C G 220.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=98.87;MQ0=0;OQ=1847.93;QD=15.66;RankSumP=0.388082;SB=-422.68;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.47G>C;refseq.codingCoordStr_2=c.47G>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=25336717;refseq.end_2=25336717;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1757;refseq.mrnaCoord_2=888;refseq.name2_1=GNRH1;refseq.name2_2=GNRH1;refseq.name_1=NM_000825;refseq.name_2=NM_001083111;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W16S;refseq.proteinCoordStr_2=p.W16S;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-95;refseq.spliceDist_2=48;refseq.start_1=25336717;refseq.start_2=25336717;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr8 25346004 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=4.24635e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.986C>A;refseq.codonCoord=329;refseq.end=25346004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1144;refseq.name=NM_017634;refseq.name2=KCTD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T329N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=67;refseq.start=25346004;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr8 25379694 . T C 309.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.53;MQ0=0;OQ=5667.40;QD=38.82;RankSumP=1.00000;SB=-2636.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.474T>C;refseq.codonCoord=158;refseq.end=25379694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=951;refseq.name=NM_152562;refseq.name2=CDCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N158N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-65;refseq.start=25379694;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 25764184 . T C 369.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.62;MQ0=0;OQ=8622.75;QD=36.69;RankSumP=1.00000;SB=-3068.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1539A>G;refseq.codonCoord=513;refseq.end=25764184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_022659;refseq.name2=EBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S513S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=11;refseq.start=25764184;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr8 26421633 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=2;HaplotypeScore=6.16;MQ=98.68;MQ0=0;OQ=2617.38;QD=14.00;RankSumP=0.144578;SB=-743.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.556G>A;refseq.codonCoord=186;refseq.end=26421633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1326;refseq.name=NM_007257;refseq.name2=PNMA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E186K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1044;refseq.start=26421633;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr8 26537688 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=575;Dels=0.00;HRun=0;HaplotypeScore=16.68;MQ=98.74;MQ0=0;OQ=21668.23;QD=37.68;RankSumP=1.00000;SB=-8244.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=26537688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_001386;refseq.name2=DPYSL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S142S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-53;refseq.start=26537688;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 26683945 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=665;Dels=0.00;HRun=1;HaplotypeScore=6.17;MQ=98.85;MQ0=0;OQ=11597.67;QD=17.44;RankSumP=0.490337;SB=-4220.43;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.1039T>C;refseq.codingCoordStr_2=c.1039T>C;refseq.codingCoordStr_3=c.1039T>C;refseq.codingCoordStr_4=c.1039T>C;refseq.codonCoord_1=347;refseq.codonCoord_2=347;refseq.codonCoord_3=347;refseq.codonCoord_4=347;refseq.end_1=26683945;refseq.end_2=26683945;refseq.end_3=26683945;refseq.end_4=26683945;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1475;refseq.mrnaCoord_2=1475;refseq.mrnaCoord_3=1475;refseq.mrnaCoord_4=1475;refseq.name2_1=ADRA1A;refseq.name2_2=ADRA1A;refseq.name2_3=ADRA1A;refseq.name2_4=ADRA1A;refseq.name_1=NM_000680;refseq.name_2=NM_033302;refseq.name_3=NM_033303;refseq.name_4=NM_033304;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C347R;refseq.proteinCoordStr_2=p.C347R;refseq.proteinCoordStr_3=p.C347R;refseq.proteinCoordStr_4=p.C347R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.spliceDist_3=156;refseq.spliceDist_4=156;refseq.start_1=26683945;refseq.start_2=26683945;refseq.start_3=26683945;refseq.start_4=26683945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 0/1 chr8 26962319 . C T 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=16;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=96.54;MQ0=0;OQ=333.35;QD=20.83;RankSumP=0.183838;SB=-117.63;SecondBestBaseQ=34;set=Intersection GT 0/1 chr8 26962354 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.416667;SecondBestBaseQ=34;set=FilteredInAll GT 0/1 chr8 27150316 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=143;Dels=0.00;HRun=5;HaplotypeScore=9.95;MQ=98.11;MQ0=0;OQ=1907.13;QD=13.34;RankSumP=0.140649;SB=-804.76;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.615G>A;refseq.codonCoord=205;refseq.end=27150316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_030795;refseq.name2=STMN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R205R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=24;refseq.start=27150316;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap-filterIngatk GT 0/1 chr8 27207735 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0858652;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.541G>T;refseq.codonCoord=181;refseq.end=27207735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_171982;refseq.name2=TRIM35;refseq.positionType=CDS;refseq.proteinCoordStr=p.A181S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=27207735;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr8 27311045 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=430.24;QD=9.35;RankSumP=0.329846;SB=-24.87;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.27T>C;refseq.codingCoordStr_2=c.27T>C;refseq.codingCoordStr_3=c.27T>C;refseq.codingCoordStr_4=c.27T>C;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.codonCoord_3=9;refseq.codonCoord_4=9;refseq.end_1=27311045;refseq.end_2=27311045;refseq.end_3=27311045;refseq.end_4=27311045;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=675;refseq.mrnaCoord_2=835;refseq.mrnaCoord_3=182;refseq.mrnaCoord_4=209;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S9S;refseq.proteinCoordStr_2=p.S9S;refseq.proteinCoordStr_3=p.S9S;refseq.proteinCoordStr_4=p.S9S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.spliceDist_4=64;refseq.start_1=27311045;refseq.start_2=27311045;refseq.start_3=27311045;refseq.start_4=27311045;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/0 chr8 27311063 . G A 105.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=959.03;QD=14.53;RankSumP=0.295796;SB=-61.02;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.45G>A;refseq.codingCoordStr_2=c.45G>A;refseq.codingCoordStr_3=c.45G>A;refseq.codingCoordStr_4=c.45G>A;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.codonCoord_4=15;refseq.end_1=27311063;refseq.end_2=27311063;refseq.end_3=27311063;refseq.end_4=27311063;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=693;refseq.mrnaCoord_2=853;refseq.mrnaCoord_3=200;refseq.mrnaCoord_4=227;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T15T;refseq.proteinCoordStr_2=p.T15T;refseq.proteinCoordStr_3=p.T15T;refseq.proteinCoordStr_4=p.T15T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.spliceDist_4=82;refseq.start_1=27311063;refseq.start_2=27311063;refseq.start_3=27311063;refseq.start_4=27311063;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr8 27311180 . A G 151.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=0;HaplotypeScore=7.38;MQ=98.49;MQ0=0;OQ=10898.14;QD=22.33;RankSumP=0.460009;SB=-4403.36;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.162A>G;refseq.codingCoordStr_3=c.162A>G;refseq.codingCoordStr_4=c.162A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.codonCoord_4=54;refseq.end_1=27311180;refseq.end_2=27311180;refseq.end_3=27311180;refseq.end_4=27311180;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=970;refseq.mrnaCoord_3=317;refseq.mrnaCoord_4=344;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K54K;refseq.proteinCoordStr_2=p.K54K;refseq.proteinCoordStr_3=p.K54K;refseq.proteinCoordStr_4=p.K54K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=27311180;refseq.start_2=27311180;refseq.start_3=27311180;refseq.start_4=27311180;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 0/1 chr8 27333454 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=18.16;MQ=98.26;MQ0=0;OQ=2704.04;QD=11.17;RankSumP=0.0605008;SB=-942.75;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.330G>A;refseq.codingCoordStr_2=c.330G>A;refseq.codingCoordStr_3=c.330G>A;refseq.codingCoordStr_4=c.330G>A;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.codonCoord_3=110;refseq.codonCoord_4=110;refseq.end_1=27333454;refseq.end_2=27333454;refseq.end_3=27333454;refseq.end_4=27333454;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=1138;refseq.mrnaCoord_3=485;refseq.mrnaCoord_4=512;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T110T;refseq.proteinCoordStr_2=p.T110T;refseq.proteinCoordStr_3=p.T110T;refseq.proteinCoordStr_4=p.T110T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.spliceDist_3=-54;refseq.spliceDist_4=-54;refseq.start_1=27333454;refseq.start_2=27333454;refseq.start_3=27333454;refseq.start_4=27333454;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr8 27349782 . C T 298.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=749;Dels=0.00;HRun=0;HaplotypeScore=9.08;MQ=98.69;MQ0=0;OQ=13989.47;QD=18.68;RankSumP=0.424961;SB=-3317.09;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.1341C>T;refseq.codingCoordStr_2=c.1341C>T;refseq.codingCoordStr_3=c.1341C>T;refseq.codingCoordStr_4=c.1341C>T;refseq.codonCoord_1=447;refseq.codonCoord_2=447;refseq.codonCoord_3=447;refseq.codonCoord_4=447;refseq.end_1=27349782;refseq.end_2=27349782;refseq.end_3=27349782;refseq.end_4=27349782;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1989;refseq.mrnaCoord_2=2149;refseq.mrnaCoord_3=1496;refseq.mrnaCoord_4=1523;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H447H;refseq.proteinCoordStr_2=p.H447H;refseq.proteinCoordStr_3=p.H447H;refseq.proteinCoordStr_4=p.H447H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.start_1=27349782;refseq.start_2=27349782;refseq.start_3=27349782;refseq.start_4=27349782;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 0/1 chr8 27364502 . A C 312.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.70;MQ0=0;OQ=5794.63;QD=16.70;RankSumP=0.142010;SB=-2143.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.2513A>C;refseq.codingCoordStr_2=c.2513A>C;refseq.codingCoordStr_3=c.2387A>C;refseq.codingCoordStr_4=c.2513A>C;refseq.codonCoord_1=838;refseq.codonCoord_2=838;refseq.codonCoord_3=796;refseq.codonCoord_4=838;refseq.end_1=27364502;refseq.end_2=27364502;refseq.end_3=27364502;refseq.end_4=27364502;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3161;refseq.mrnaCoord_2=3321;refseq.mrnaCoord_3=2542;refseq.mrnaCoord_4=2695;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K838T;refseq.proteinCoordStr_2=p.K838T;refseq.proteinCoordStr_3=p.K796T;refseq.proteinCoordStr_4=p.K838T;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.spliceDist_4=-11;refseq.start_1=27364502;refseq.start_2=27364502;refseq.start_3=27364502;refseq.start_4=27364502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr8 27367620 . T C 214.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=2.80;MQ=98.16;MQ0=0;OQ=7114.54;QD=34.71;RankSumP=1.00000;SB=-3063.57;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.2628T>C;refseq.codingCoordStr_2=c.2628T>C;refseq.codingCoordStr_3=c.2502T>C;refseq.codingCoordStr_4=c.2628T>C;refseq.codonCoord_1=876;refseq.codonCoord_2=876;refseq.codonCoord_3=834;refseq.codonCoord_4=876;refseq.end_1=27367620;refseq.end_2=27367620;refseq.end_3=27367620;refseq.end_4=27367620;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3276;refseq.mrnaCoord_2=3436;refseq.mrnaCoord_3=2657;refseq.mrnaCoord_4=2810;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T876T;refseq.proteinCoordStr_2=p.T876T;refseq.proteinCoordStr_3=p.T834T;refseq.proteinCoordStr_4=p.T876T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=27367620;refseq.start_2=27367620;refseq.start_3=27367620;refseq.start_4=27367620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr8 27371792 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.2879C>G;refseq.codingCoordStr_2=c.2879C>G;refseq.codingCoordStr_3=c.2753C>G;refseq.codingCoordStr_4=c.2879C>G;refseq.codonCoord_1=960;refseq.codonCoord_2=960;refseq.codonCoord_3=918;refseq.codonCoord_4=960;refseq.end_1=27371792;refseq.end_2=27371792;refseq.end_3=27371792;refseq.end_4=27371792;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3527;refseq.mrnaCoord_2=3687;refseq.mrnaCoord_3=2908;refseq.mrnaCoord_4=3061;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A960G;refseq.proteinCoordStr_2=p.A960G;refseq.proteinCoordStr_3=p.A918G;refseq.proteinCoordStr_4=p.A960G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.spliceDist_4=65;refseq.start_1=27371792;refseq.start_2=27371792;refseq.start_3=27371792;refseq.start_4=27371792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=FilteredInAll GT 1/0 chr8 27371793 . A G 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=32.86;MQ=98.39;MQ0=0;OQ=7177.37;QD=32.04;RankSumP=1.00000;SB=-1573.07;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.2880A>G;refseq.codingCoordStr_2=c.2880A>G;refseq.codingCoordStr_3=c.2754A>G;refseq.codingCoordStr_4=c.2880A>G;refseq.codonCoord_1=960;refseq.codonCoord_2=960;refseq.codonCoord_3=918;refseq.codonCoord_4=960;refseq.end_1=27371793;refseq.end_2=27371793;refseq.end_3=27371793;refseq.end_4=27371793;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3528;refseq.mrnaCoord_2=3688;refseq.mrnaCoord_3=2909;refseq.mrnaCoord_4=3062;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A960A;refseq.proteinCoordStr_2=p.A960A;refseq.proteinCoordStr_3=p.A918A;refseq.proteinCoordStr_4=p.A960A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.spliceDist_4=66;refseq.start_1=27371793;refseq.start_2=27371793;refseq.start_3=27371793;refseq.start_4=27371793;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/1 chr8 27371817 . A G 139.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=98.02;MQ0=0;OQ=5522.60;QD=34.52;RankSumP=1.00000;SB=-569.49;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.2904A>G;refseq.codingCoordStr_2=c.2904A>G;refseq.codingCoordStr_3=c.2778A>G;refseq.codingCoordStr_4=c.2904A>G;refseq.codonCoord_1=968;refseq.codonCoord_2=968;refseq.codonCoord_3=926;refseq.codonCoord_4=968;refseq.end_1=27371817;refseq.end_2=27371817;refseq.end_3=27371817;refseq.end_4=27371817;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3552;refseq.mrnaCoord_2=3712;refseq.mrnaCoord_3=2933;refseq.mrnaCoord_4=3086;refseq.name2_1=PTK2B;refseq.name2_2=PTK2B;refseq.name2_3=PTK2B;refseq.name2_4=PTK2B;refseq.name_1=NM_004103;refseq.name_2=NM_173174;refseq.name_3=NM_173175;refseq.name_4=NM_173176;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L968L;refseq.proteinCoordStr_2=p.L968L;refseq.proteinCoordStr_3=p.L926L;refseq.proteinCoordStr_4=p.L968L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.spliceDist_4=90;refseq.start_1=27371817;refseq.start_2=27371817;refseq.start_3=27371817;refseq.start_4=27371817;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr8 27377088 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.789G>C;refseq.codonCoord=263;refseq.end=27377088;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1398;refseq.name=NM_000742;refseq.name2=CHRNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R263R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=340;refseq.start=27377088;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr8 27380739 . T C 276.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=99.03;MQ0=0;OQ=5174.77;QD=16.80;RankSumP=0.00238308;SB=-1778.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.373A>G;refseq.codonCoord=125;refseq.end=27380739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_000742;refseq.name2=CHRNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=34;refseq.start=27380739;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/0 chr8 27383414 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.87017e-11;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.75T>G;refseq.codonCoord=25;refseq.end=27383414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_000742;refseq.name2=CHRNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G25G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=27383414;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr8 27414422 . A G 220.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.78;MQ0=0;OQ=5536.89;QD=21.97;RankSumP=0.333858;SB=-1975.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.164A>G;refseq.codonCoord=55;refseq.end=27414422;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_001979;refseq.name2=EPHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K55R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-23;refseq.start=27414422;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr8 27450283 . C T 110.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.81;MQ=99.00;MQ0=0;OQ=1570.58;QD=15.55;RankSumP=0.318737;SB=-483.95;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1236C>T;refseq.codonCoord=412;refseq.end=27450283;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_001979;refseq.name2=EPHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S412S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=27450283;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr8 27452125 . G A 247.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.91;MQ0=0;OQ=6832.96;QD=21.62;RankSumP=0.365907;SB=-2706.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1275G>A;refseq.codonCoord=425;refseq.end=27452125;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1356;refseq.name=NM_001979;refseq.name2=EPHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A425A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=27452125;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr8 27457881 . A C 60.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=2;HaplotypeScore=1.68;MQ=98.97;MQ0=0;OQ=4583.92;QD=42.44;RankSumP=1.00000;SB=-1172.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1593A>C;refseq.codonCoord=531;refseq.end=27457881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1674;refseq.name=NM_001979;refseq.name2=EPHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P531P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=27457881;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr8 27518598 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.622A>C;refseq.codingCoordStr_2=c.745A>C;refseq.codingCoordStr_3=c.589A>C;refseq.codonCoord_1=208;refseq.codonCoord_2=249;refseq.codonCoord_3=197;refseq.end_1=27518598;refseq.end_2=27518598;refseq.end_3=27518598;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=769;refseq.mrnaCoord_2=774;refseq.mrnaCoord_3=894;refseq.name2_1=CLU;refseq.name2_2=CLU;refseq.name2_3=CLU;refseq.name_1=NM_001171138;refseq.name_2=NM_001831;refseq.name_3=NM_203339;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T208P;refseq.proteinCoordStr_2=p.T249P;refseq.proteinCoordStr_3=p.T197P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=172;refseq.spliceDist_2=172;refseq.spliceDist_3=172;refseq.start_1=27518598;refseq.start_2=27518598;refseq.start_3=27518598;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr8 27723888 . C G 77.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=9920.90;QD=48.87;RankSumP=1.00000;SB=-3981.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.822G>C;refseq.codonCoord=274;refseq.end=27723888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_018492;refseq.name2=PBK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A274A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=50;refseq.start=27723888;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr8 27735802 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.418G>C;refseq.codonCoord=140;refseq.end=27735802;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_018492;refseq.name2=PBK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A140P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-48;refseq.start=27735802;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 27793117 . A G 242.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.69;MQ0=0;OQ=4504.01;QD=16.56;RankSumP=0.135105;SB=-431.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1239T>C;refseq.codonCoord=413;refseq.end=27793117;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1679;refseq.name=NM_173833;refseq.name2=SCARA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R413R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=86;refseq.start=27793117;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr8 27835464 . C T 24.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=91.00;MQ0=0;OQ=391.67;QD=24.48;RankSumP=0.505676;SB=-166.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.459G>A;refseq.codonCoord=153;refseq.end=27835464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_173833;refseq.name2=SCARA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L153L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=218;refseq.start=27835464;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=filterInsoap-gatk GT 0/1 chr8 28360688 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=419;Dels=0.00;HRun=1;HaplotypeScore=22.43;MQ=98.85;MQ0=0;OQ=7255.10;QD=17.32;RankSumP=0.204496;SB=-1520.54;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.762G>A;refseq.codonCoord=254;refseq.end=28360688;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_172366;refseq.name2=FBXO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M254I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=22;refseq.start=28360688;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr8 28440631 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=1419.92;QD=15.95;RankSumP=0.428106;SB=-369.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.435A>G;refseq.codonCoord=145;refseq.end=28440631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_017412;refseq.name2=FZD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L145L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=49;refseq.start=28440631;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr8 28629701 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.206T>G;refseq.codonCoord=69;refseq.end=28629701;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=799;refseq.name=NM_001440;refseq.name2=EXTL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=681;refseq.start=28629701;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr8 28630722 . G A 59.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=17.79;MQ=98.81;MQ0=0;OQ=15011.21;QD=40.46;RankSumP=1.00000;SB=-6222.94;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1227G>A;refseq.codonCoord=409;refseq.end=28630722;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1820;refseq.name=NM_001440;refseq.name2=EXTL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P409P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-922;refseq.start=28630722;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr8 28691353 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.1244A>C;refseq.codingCoordStr_3=c.1235A>C;refseq.codingCoordStr_4=c.1307A>C;refseq.codonCoord_2=415;refseq.codonCoord_3=412;refseq.codonCoord_4=436;refseq.end_1=28691353;refseq.end_2=28691353;refseq.end_3=28691353;refseq.end_4=28691353;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1415;refseq.mrnaCoord_2=1543;refseq.mrnaCoord_3=1372;refseq.mrnaCoord_4=1606;refseq.name2_1=INTS9;refseq.name2_2=INTS9;refseq.name2_3=INTS9;refseq.name2_4=INTS9;refseq.name_1=NR_026826;refseq.name_2=NM_001145159;refseq.name_3=NM_001172562;refseq.name_4=NM_018250;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y415S;refseq.proteinCoordStr_3=p.Y412S;refseq.proteinCoordStr_4=p.Y436S;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=28691353;refseq.start_2=28691353;refseq.start_3=28691353;refseq.start_4=28691353;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 1/0 chr8 28751071 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.338+2;refseq.codingCoordStr_3=c.329+2;refseq.codingCoordStr_4=c.401+2;refseq.end_1=28751071;refseq.end_2=28751071;refseq.end_3=28751071;refseq.end_4=28751071;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=INTS9;refseq.name2_2=INTS9;refseq.name2_3=INTS9;refseq.name2_4=INTS9;refseq.name_1=NR_026826;refseq.name_2=NM_001145159;refseq.name_3=NM_001172562;refseq.name_4=NM_018250;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=28751071;refseq.start_2=28751071;refseq.start_3=28751071;refseq.start_4=28751071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 0/1 chr8 28922540 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.619T>G;refseq.codingCoordStr_2=c.619T>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=28922540;refseq.end_2=28922540;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=1019;refseq.name2_1=HMBOX1;refseq.name2_2=HMBOX1;refseq.name_1=NM_001135726;refseq.name_2=NM_024567;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L207V;refseq.proteinCoordStr_2=p.L207V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=28922540;refseq.start_2=28922540;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr8 30046842 . C G 90.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=9.43;MQ=99.00;MQ0=0;OQ=9254.44;QD=45.14;RankSumP=1.00000;SB=-4383.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.558G>C;refseq.codonCoord=186;refseq.end=30046842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_016127;refseq.name2=TMEM66;refseq.positionType=CDS;refseq.proteinCoordStr=p.A186A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-143;refseq.start=30046842;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr8 30046863 . A G 440.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=99.00;MQ0=0;OQ=7583.27;QD=38.69;RankSumP=1.00000;SB=-2960.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.537T>C;refseq.codonCoord=179;refseq.end=30046863;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_016127;refseq.name2=TMEM66;refseq.positionType=CDS;refseq.proteinCoordStr=p.I179I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-164;refseq.start=30046863;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr8 30814768 . C T 191.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=9.54;MQ=98.75;MQ0=0;OQ=13300.56;QD=40.92;RankSumP=1.00000;SB=-5935.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.7425G>A;refseq.codonCoord=2475;refseq.end=30814768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7425;refseq.name=NM_031271;refseq.name2=TEX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2475T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=352;refseq.start=30814768;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr8 30820140 . T C 334.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.94;MQ0=0;OQ=6229.02;QD=40.71;RankSumP=1.00000;SB=-2571.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5936A>G;refseq.codonCoord=1979;refseq.end=30820140;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5936;refseq.name=NM_031271;refseq.name2=TEX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1979S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1079;refseq.start=30820140;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr8 30821537 . A C 190.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=98.92;MQ0=0;OQ=20851.23;QD=40.49;RankSumP=1.00000;SB=-6475.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4539T>G;refseq.codonCoord=1513;refseq.end=30821537;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4539;refseq.name=NM_031271;refseq.name2=TEX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1513E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-2476;refseq.start=30821537;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr8 31041477 . G A 274.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=478;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.84;MQ0=0;OQ=20013.53;QD=41.87;RankSumP=1.00000;SB=-6041.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.340G>A;refseq.codonCoord=114;refseq.end=31041477;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1128;refseq.name=NM_000553;refseq.name2=WRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V114I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-16;refseq.start=31041477;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr8 31044099 . C T 451.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.78;MQ0=0;OQ=6591.15;QD=40.69;RankSumP=1.00000;SB=-2713.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.513C>T;refseq.codonCoord=171;refseq.end=31044099;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1301;refseq.name=NM_000553;refseq.name2=WRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.C171C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=31044099;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr8 32572900 . G A 163.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=99.00;MQ0=0;OQ=3846.78;QD=22.24;RankSumP=0.485151;SB=-1457.96;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr8;refseq.chr_10=chr8;refseq.chr_11=chr8;refseq.chr_12=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.chr_9=chr8;refseq.codingCoordStr_1=c.113G>A;refseq.codingCoordStr_10=c.113G>A;refseq.codingCoordStr_11=c.758G>A;refseq.codingCoordStr_12=c.113G>A;refseq.codingCoordStr_2=c.113G>A;refseq.codingCoordStr_3=c.113G>A;refseq.codingCoordStr_4=c.113G>A;refseq.codingCoordStr_5=c.113G>A;refseq.codingCoordStr_6=c.113G>A;refseq.codingCoordStr_7=c.113G>A;refseq.codingCoordStr_8=c.113G>A;refseq.codingCoordStr_9=c.113G>A;refseq.codonCoord_1=38;refseq.codonCoord_10=38;refseq.codonCoord_11=253;refseq.codonCoord_12=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.codonCoord_5=38;refseq.codonCoord_6=38;refseq.codonCoord_7=38;refseq.codonCoord_8=38;refseq.codonCoord_9=38;refseq.end_1=32572900;refseq.end_10=32572900;refseq.end_11=32572900;refseq.end_12=32572900;refseq.end_2=32572900;refseq.end_3=32572900;refseq.end_4=32572900;refseq.end_5=32572900;refseq.end_6=32572900;refseq.end_7=32572900;refseq.end_8=32572900;refseq.end_9=32572900;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_12=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_10=630;refseq.mrnaCoord_11=991;refseq.mrnaCoord_12=630;refseq.mrnaCoord_2=630;refseq.mrnaCoord_3=630;refseq.mrnaCoord_4=630;refseq.mrnaCoord_5=630;refseq.mrnaCoord_6=630;refseq.mrnaCoord_7=630;refseq.mrnaCoord_8=630;refseq.mrnaCoord_9=630;refseq.name2_1=NRG1;refseq.name2_10=NRG1;refseq.name2_11=NRG1;refseq.name2_12=NRG1;refseq.name2_2=NRG1;refseq.name2_3=NRG1;refseq.name2_4=NRG1;refseq.name2_5=NRG1;refseq.name2_6=NRG1;refseq.name2_7=NRG1;refseq.name2_8=NRG1;refseq.name2_9=NRG1;refseq.name_1=NM_001160002;refseq.name_10=NM_013960;refseq.name_11=NM_013962;refseq.name_12=NM_013964;refseq.name_2=NM_001160004;refseq.name_3=NM_001160005;refseq.name_4=NM_001160007;refseq.name_5=NM_001160008;refseq.name_6=NM_004495;refseq.name_7=NM_013956;refseq.name_8=NM_013957;refseq.name_9=NM_013958;refseq.numMatchingRecords=12;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.R38Q;refseq.proteinCoordStr_10=p.R38Q;refseq.proteinCoordStr_11=p.R253Q;refseq.proteinCoordStr_12=p.R38Q;refseq.proteinCoordStr_2=p.R38Q;refseq.proteinCoordStr_3=p.R38Q;refseq.proteinCoordStr_4=p.R38Q;refseq.proteinCoordStr_5=p.R38Q;refseq.proteinCoordStr_6=p.R38Q;refseq.proteinCoordStr_7=p.R38Q;refseq.proteinCoordStr_8=p.R38Q;refseq.proteinCoordStr_9=p.R38Q;refseq.referenceAA_1=Arg;refseq.referenceAA_10=Arg;refseq.referenceAA_11=Arg;refseq.referenceAA_12=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceAA_8=Arg;refseq.referenceAA_9=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_10=CGA;refseq.referenceCodon_11=CGA;refseq.referenceCodon_12=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.referenceCodon_5=CGA;refseq.referenceCodon_6=CGA;refseq.referenceCodon_7=CGA;refseq.referenceCodon_8=CGA;refseq.referenceCodon_9=CGA;refseq.spliceDist_1=13;refseq.spliceDist_10=13;refseq.spliceDist_11=13;refseq.spliceDist_12=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.spliceDist_5=13;refseq.spliceDist_6=13;refseq.spliceDist_7=13;refseq.spliceDist_8=13;refseq.spliceDist_9=13;refseq.start_1=32572900;refseq.start_10=32572900;refseq.start_11=32572900;refseq.start_12=32572900;refseq.start_2=32572900;refseq.start_3=32572900;refseq.start_4=32572900;refseq.start_5=32572900;refseq.start_6=32572900;refseq.start_7=32572900;refseq.start_8=32572900;refseq.start_9=32572900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Gln;refseq.variantAA_10=Gln;refseq.variantAA_11=Gln;refseq.variantAA_12=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantAA_8=Gln;refseq.variantAA_9=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_10=CAA;refseq.variantCodon_11=CAA;refseq.variantCodon_12=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;refseq.variantCodon_6=CAA;refseq.variantCodon_7=CAA;refseq.variantCodon_8=CAA;refseq.variantCodon_9=CAA;set=Intersection GT 1/0 chr8 33489486 . T C 101.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.88;MQ0=0;OQ=3891.05;QD=21.86;RankSumP=0.204797;SB=-838.94;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.188A>G;refseq.codingCoordStr_2=c.188A>G;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=33489486;refseq.end_2=33489486;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=391;refseq.mrnaCoord_2=713;refseq.name2_1=C8orf41;refseq.name2_2=C8orf41;refseq.name_1=NM_001102401;refseq.name_2=NM_025115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E63G;refseq.proteinCoordStr_2=p.E63G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=287;refseq.spliceDist_2=-460;refseq.start_1=33489486;refseq.start_2=33489486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr8 33489536 . A G 231.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.93;MQ0=0;OQ=1852.00;QD=15.83;RankSumP=0.222728;SB=-762.58;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.138T>C;refseq.codingCoordStr_2=c.138T>C;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=33489536;refseq.end_2=33489536;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=341;refseq.mrnaCoord_2=663;refseq.name2_1=C8orf41;refseq.name2_2=C8orf41;refseq.name_1=NM_001102401;refseq.name_2=NM_025115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N46N;refseq.proteinCoordStr_2=p.N46N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=237;refseq.spliceDist_2=-510;refseq.start_1=33489536;refseq.start_2=33489536;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr8 33490604 . C T 279.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.22;MQ0=1;OQ=9897.41;QD=20.41;RankSumP=0.401381;SB=-3236.92;SecondBestBaseQ=33;set=Intersection GT 0/1 chr8 37714627 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.29T>G;refseq.codingCoordStr_2=c.29T>G;refseq.codingCoordStr_3=c.29T>G;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.end_1=37714627;refseq.end_2=37714627;refseq.end_3=37714627;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=371;refseq.mrnaCoord_2=144;refseq.mrnaCoord_3=144;refseq.name2_1=ERLIN2;refseq.name2_2=ERLIN2;refseq.name2_3=ERLIN2;refseq.name_1=NM_001003790;refseq.name_2=NM_001003791;refseq.name_3=NM_007175;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V10G;refseq.proteinCoordStr_2=p.V10G;refseq.proteinCoordStr_3=p.V10G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=37714627;refseq.start_2=37714627;refseq.start_3=37714627;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr8 37847175 . A G 324.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=98.61;MQ0=0;OQ=4662.64;QD=19.51;RankSumP=0.356107;SB=-1086.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.3554T>C;refseq.codingCoordStr_2=c.1652T>C;refseq.codonCoord_1=1185;refseq.codonCoord_2=551;refseq.end_1=37847175;refseq.end_2=37847175;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3610;refseq.mrnaCoord_2=1708;refseq.name2_1=RAB11FIP1;refseq.name2_2=RAB11FIP1;refseq.name_1=NM_001002814;refseq.name_2=NM_025151;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1185T;refseq.proteinCoordStr_2=p.M551T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=37847175;refseq.start_2=37847175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr8 37847177 . T G 195.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=3.04;MQ=98.61;MQ0=0;OQ=4934.80;QD=21.09;RankSumP=0.303815;SB=-1174.58;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.3552A>C;refseq.codingCoordStr_2=c.1650A>C;refseq.codonCoord_1=1184;refseq.codonCoord_2=550;refseq.end_1=37847177;refseq.end_2=37847177;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3608;refseq.mrnaCoord_2=1706;refseq.name2_1=RAB11FIP1;refseq.name2_2=RAB11FIP1;refseq.name_1=NM_001002814;refseq.name_2=NM_025151;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1184A;refseq.proteinCoordStr_2=p.A550A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=37847177;refseq.start_2=37847177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr8 37849526 . G A 302.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=99.00;MQ0=0;OQ=13828.62;QD=41.90;RankSumP=1.00000;SB=-5384.07;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1952C>T;refseq.codonCoord_2=651;refseq.end_1=37851180;refseq.end_2=37849526;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2008;refseq.name2_1=RAB11FIP1;refseq.name2_2=RAB11FIP1;refseq.name_1=NM_025151;refseq.name_2=NM_001002814;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A651V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=330;refseq.start_1=37847215;refseq.start_2=37849526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr8 37849614 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=26.24;MQ=98.72;MQ0=0;OQ=6072.04;QD=18.46;RankSumP=0.384805;SB=-2443.04;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1864C>A;refseq.codonCoord_2=622;refseq.end_1=37851180;refseq.end_2=37849614;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1920;refseq.name2_1=RAB11FIP1;refseq.name2_2=RAB11FIP1;refseq.name_1=NM_025151;refseq.name_2=NM_001002814;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q622K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=242;refseq.start_1=37847215;refseq.start_2=37849614;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr8 37942527 . C A 15.51 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.37;MQ0=0;QD=1.19;RankSumP=0.290909;SB=-33.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.618G>T;refseq.codonCoord=206;refseq.end=37942527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_000025;refseq.name2=ADRB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-588;refseq.start=37942527;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr8 37942955 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=2.11;MQ=98.22;MQ0=0;OQ=209.55;QD=9.52;RankSumP=0.695046;SB=-123.75;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.190T>C;refseq.codonCoord=64;refseq.end=37942955;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_000025;refseq.name2=ADRB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W64R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=387;refseq.start=37942955;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr8 38105054 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=2;HaplotypeScore=5.04;MQ=99.00;MQ0=0;OQ=7914.03;QD=39.77;RankSumP=1.00000;SB=-2314.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.972A>G;refseq.codingCoordStr_2=c.1254A>G;refseq.codonCoord_1=324;refseq.codonCoord_2=418;refseq.end_1=38105054;refseq.end_2=38105054;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1375;refseq.mrnaCoord_2=1312;refseq.name2_1=ASH2L;refseq.name2_2=ASH2L;refseq.name_1=NM_001105214;refseq.name_2=NM_004674;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K324K;refseq.proteinCoordStr_2=p.K418K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=38105054;refseq.start_2=38105054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr8 38124992 . T C 231.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=3.18;MQ=98.56;MQ0=0;OQ=4672.54;QD=37.68;RankSumP=1.00000;SB=-2077.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.189A>G;refseq.codingCoordStr_2=c.189A>G;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=38124992;refseq.end_2=38124992;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=453;refseq.mrnaCoord_2=453;refseq.name2_1=STAR;refseq.name2_2=STAR;refseq.name_1=NM_000349;refseq.name_2=NM_001007243;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L63L;refseq.proteinCoordStr_2=p.L63L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=38124992;refseq.start_2=38124992;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr8 38153708 . G C 28.46 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=81.94;MQ0=1;QD=1.50;SB=-36.43;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.164G>C;refseq.codonCoord=55;refseq.end=38153708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_004874;refseq.name2=BAG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G55A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-107;refseq.start=38153708;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:16,2:10:-9.14,-3.01,-38.01:61.29 chr8 38214819 . C T 223.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=7.76;MQ=98.81;MQ0=0;OQ=9425.09;QD=22.28;RankSumP=0.345231;SB=-3881.85;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.557C>T;refseq.codingCoordStr_2=c.557C>T;refseq.codingCoordStr_3=c.557C>T;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.codonCoord_3=186;refseq.end_1=38214819;refseq.end_2=38214819;refseq.end_3=38214819;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=757;refseq.mrnaCoord_2=934;refseq.mrnaCoord_3=934;refseq.name2_1=DDHD2;refseq.name2_2=DDHD2;refseq.name2_3=DDHD2;refseq.name_1=NM_001164232;refseq.name_2=NM_001164234;refseq.name_3=NM_015214;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T186M;refseq.proteinCoordStr_2=p.T186M;refseq.proteinCoordStr_3=p.T186M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=38214819;refseq.start_2=38214819;refseq.start_3=38214819;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr8 38392642 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr8;refseq.chr_10=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.chr_9=chr8;refseq.codingCoordStr_1=c.1751A>C;refseq.codingCoordStr_10=c.1757A>C;refseq.codingCoordStr_2=c.1727A>C;refseq.codingCoordStr_3=c.1751A>C;refseq.codingCoordStr_4=c.1490A>C;refseq.codingCoordStr_5=c.1850A>C;refseq.codingCoordStr_6=c.1751A>C;refseq.codingCoordStr_7=c.1490A>C;refseq.codingCoordStr_8=c.1484A>C;refseq.codingCoordStr_9=c.1757A>C;refseq.codonCoord_1=584;refseq.codonCoord_10=586;refseq.codonCoord_2=576;refseq.codonCoord_3=584;refseq.codonCoord_4=497;refseq.codonCoord_5=617;refseq.codonCoord_6=584;refseq.codonCoord_7=497;refseq.codonCoord_8=495;refseq.codonCoord_9=586;refseq.end_1=38392642;refseq.end_10=38392642;refseq.end_2=38392642;refseq.end_3=38392642;refseq.end_4=38392642;refseq.end_5=38392642;refseq.end_6=38392642;refseq.end_7=38392642;refseq.end_8=38392642;refseq.end_9=38392642;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=2693;refseq.mrnaCoord_10=2699;refseq.mrnaCoord_2=2761;refseq.mrnaCoord_3=2013;refseq.mrnaCoord_4=1752;refseq.mrnaCoord_5=2173;refseq.mrnaCoord_6=2693;refseq.mrnaCoord_7=2432;refseq.mrnaCoord_8=2426;refseq.mrnaCoord_9=2699;refseq.name2_1=FGFR1;refseq.name2_10=FGFR1;refseq.name2_2=FGFR1;refseq.name2_3=FGFR1;refseq.name2_4=FGFR1;refseq.name2_5=FGFR1;refseq.name2_6=FGFR1;refseq.name2_7=FGFR1;refseq.name2_8=FGFR1;refseq.name2_9=FGFR1;refseq.name_1=NM_001174063;refseq.name_10=NM_023111;refseq.name_2=NM_001174064;refseq.name_3=NM_001174065;refseq.name_4=NM_001174066;refseq.name_5=NM_001174067;refseq.name_6=NM_015850;refseq.name_7=NM_023105;refseq.name_8=NM_023106;refseq.name_9=NM_023110;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.N584T;refseq.proteinCoordStr_10=p.N586T;refseq.proteinCoordStr_2=p.N576T;refseq.proteinCoordStr_3=p.N584T;refseq.proteinCoordStr_4=p.N497T;refseq.proteinCoordStr_5=p.N617T;refseq.proteinCoordStr_6=p.N584T;refseq.proteinCoordStr_7=p.N497T;refseq.proteinCoordStr_8=p.N495T;refseq.proteinCoordStr_9=p.N586T;refseq.referenceAA_1=Asn;refseq.referenceAA_10=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceAA_8=Asn;refseq.referenceAA_9=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_10=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.referenceCodon_7=AAC;refseq.referenceCodon_8=AAC;refseq.referenceCodon_9=AAC;refseq.spliceDist_1=94;refseq.spliceDist_10=94;refseq.spliceDist_2=94;refseq.spliceDist_3=94;refseq.spliceDist_4=94;refseq.spliceDist_5=94;refseq.spliceDist_6=94;refseq.spliceDist_7=94;refseq.spliceDist_8=94;refseq.spliceDist_9=94;refseq.start_1=38392642;refseq.start_10=38392642;refseq.start_2=38392642;refseq.start_3=38392642;refseq.start_4=38392642;refseq.start_5=38392642;refseq.start_6=38392642;refseq.start_7=38392642;refseq.start_8=38392642;refseq.start_9=38392642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Thr;refseq.variantAA_10=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantAA_9=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_10=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;refseq.variantCodon_8=ACC;refseq.variantCodon_9=ACC;set=FilteredInAll GT 1/0 chr8 38505019 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.294A>C;refseq.codonCoord=98;refseq.end=38505019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_207412;refseq.name2=C8orf86;refseq.positionType=CDS;refseq.proteinCoordStr=p.A98A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=38505019;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr8 38797089 . A G 359.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=99.00;MQ0=0;OQ=4652.97;QD=34.47;RankSumP=1.00000;SB=-1762.38;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.585A>G;refseq.codingCoordStr_3=c.1170A>G;refseq.codonCoord_2=195;refseq.codonCoord_3=390;refseq.end_1=38801972;refseq.end_2=38797089;refseq.end_3=38797089;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1495;refseq.mrnaCoord_3=1549;refseq.name2_1=TACC1;refseq.name2_2=TACC1;refseq.name2_3=TACC1;refseq.name_1=NM_001122824;refseq.name_2=NM_001146216;refseq.name_3=NM_006283;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E195E;refseq.proteinCoordStr_3=p.E390E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_2=-222;refseq.spliceDist_3=-222;refseq.start_1=38764429;refseq.start_2=38797089;refseq.start_3=38797089;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr8 38804010 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=93.84;MQ0=6;OQ=14864.47;QD=37.82;RankSumP=1.00000;SB=-6386.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.390T>C;refseq.codingCoordStr_2=c.1035T>C;refseq.codingCoordStr_3=c.1620T>C;refseq.codonCoord_1=130;refseq.codonCoord_2=345;refseq.codonCoord_3=540;refseq.end_1=38804010;refseq.end_2=38804010;refseq.end_3=38804010;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=769;refseq.mrnaCoord_2=1945;refseq.mrnaCoord_3=1999;refseq.name2_1=TACC1;refseq.name2_2=TACC1;refseq.name2_3=TACC1;refseq.name_1=NM_001122824;refseq.name_2=NM_001146216;refseq.name_3=NM_006283;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P130P;refseq.proteinCoordStr_2=p.P345P;refseq.proteinCoordStr_3=p.P540P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=38804010;refseq.start_2=38804010;refseq.start_3=38804010;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr8 38815153 . T C 298.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5646.38;QD=41.21;RankSumP=1.00000;SB=-1332.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.618T>C;refseq.codingCoordStr_2=c.1263T>C;refseq.codingCoordStr_3=c.1848T>C;refseq.codonCoord_1=206;refseq.codonCoord_2=421;refseq.codonCoord_3=616;refseq.end_1=38815153;refseq.end_2=38815153;refseq.end_3=38815153;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=997;refseq.mrnaCoord_2=2173;refseq.mrnaCoord_3=2227;refseq.name2_1=TACC1;refseq.name2_2=TACC1;refseq.name2_3=TACC1;refseq.name_1=NM_001122824;refseq.name_2=NM_001146216;refseq.name_3=NM_006283;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T206T;refseq.proteinCoordStr_2=p.T421T;refseq.proteinCoordStr_3=p.T616T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=38815153;refseq.start_2=38815153;refseq.start_3=38815153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr8 38954823 . T C 308.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=98.91;MQ0=0;OQ=4075.38;QD=37.05;RankSumP=1.00000;SB=-833.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.966T>C;refseq.codonCoord=322;refseq.end=38954823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_153692;refseq.name2=HTRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N322N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=38954823;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 38968007 . C T 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.19;MQ0=0;OQ=2632.09;QD=37.07;RankSumP=1.00000;SB=-189.68;SecondBestBaseQ=0;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.*1G>A;refseq.codingCoordStr_2=c.*1G>A;refseq.codingCoordStr_3=c.*1G>A;refseq.codingCoordStr_4=c.*1G>A;refseq.end_1=38968007;refseq.end_2=38968007;refseq.end_3=38968007;refseq.end_4=38968007;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=912;refseq.mrnaCoord_2=811;refseq.mrnaCoord_3=1118;refseq.mrnaCoord_4=729;refseq.name2_1=TM2D2;refseq.name2_2=TM2D2;refseq.name2_3=TM2D2;refseq.name2_4=TM2D2;refseq.name_1=NM_001024380;refseq.name_2=NM_001024381;refseq.name_3=NM_031940;refseq.name_4=NM_078473;refseq.numMatchingRecords=4;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.spliceDist_1=215;refseq.spliceDist_2=215;refseq.spliceDist_3=215;refseq.spliceDist_4=215;refseq.start_1=38968007;refseq.start_2=38968007;refseq.start_3=38968007;refseq.start_4=38968007;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=Intersection GT 1/1 chr8 39615186 . T C 118.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=98.89;MQ0=0;OQ=2775.84;QD=15.42;RankSumP=0.480950;SB=-1275.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.873T>C;refseq.codonCoord=291;refseq.end=39615186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_014237;refseq.name2=ADAM18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T291T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-37;refseq.start=39615186;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr8 40130236 . G A 220.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=12.40;MQ=98.59;MQ0=0;OQ=13811.53;QD=36.16;RankSumP=1.00000;SB=-3262.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.28G>A;refseq.codonCoord=10;refseq.end=40130236;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=91;refseq.name=NM_020130;refseq.name2=C8orf4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V10I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=91;refseq.start=40130236;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr8 40557914 . T C 117.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.82;MQ0=0;OQ=10597.69;QD=22.45;RankSumP=0.00106912;SB=-3679.80;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.373A>G;refseq.codingCoordStr_2=c.601A>G;refseq.codonCoord_1=125;refseq.codonCoord_2=201;refseq.end_1=40557914;refseq.end_2=40557914;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=519;refseq.mrnaCoord_2=747;refseq.name2_1=ZMAT4;refseq.name2_2=ZMAT4;refseq.name_1=NM_001135731;refseq.name_2=NM_024645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T125A;refseq.proteinCoordStr_2=p.T201A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=40557914;refseq.start_2=40557914;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/0 chr8 41285798 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=4;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.38C>G;refseq.codonCoord=13;refseq.end=41285798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_003012;refseq.name2=SFRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=350;refseq.start=41285798;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr8 41638141 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_7=c.5643A>C;refseq.codingCoordStr_8=c.468A>C;refseq.codonCoord_7=1881;refseq.codonCoord_8=156;refseq.end_1=41638465;refseq.end_2=41638465;refseq.end_3=41638465;refseq.end_4=41638540;refseq.end_5=41638540;refseq.end_6=41640323;refseq.end_7=41638141;refseq.end_8=41638141;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_7=readthrough;refseq.functionalClass_8=readthrough;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_7=5727;refseq.mrnaCoord_8=731;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name2_6=ANK1;refseq.name2_7=ANK1;refseq.name2_8=ANK1;refseq.name_1=NM_001142445;refseq.name_2=NM_020476;refseq.name_3=NM_020477;refseq.name_4=NM_001142446;refseq.name_5=NM_020475;refseq.name_6=NM_020480;refseq.name_7=NM_000037;refseq.name_8=NM_020478;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_7=p.*1881C;refseq.proteinCoordStr_8=p.*156C;refseq.referenceAA_7=Stop;refseq.referenceAA_8=Stop;refseq.referenceCodon_7=TGA;refseq.referenceCodon_8=TGA;refseq.spliceDist_7=-37;refseq.spliceDist_8=-37;refseq.start_1=41632440;refseq.start_2=41632440;refseq.start_3=41632440;refseq.start_4=41632440;refseq.start_5=41632440;refseq.start_6=41632440;refseq.start_7=41638141;refseq.start_8=41638141;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_7=Cys;refseq.variantAA_8=Cys;refseq.variantCodon_7=TGC;refseq.variantCodon_8=TGC;set=FilteredInAll GT 1/0 chr8 41645071 . C T 343 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.66;MQ0=0;OQ=11307.44;QD=39.68;RankSumP=1.00000;SB=-4253.94;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.5265G>A;refseq.codingCoordStr_2=c.5388G>A;refseq.codingCoordStr_3=c.5265G>A;refseq.codingCoordStr_4=c.5265G>A;refseq.codingCoordStr_5=c.4779G>A;refseq.codonCoord_1=1755;refseq.codonCoord_2=1796;refseq.codonCoord_3=1755;refseq.codonCoord_4=1755;refseq.codonCoord_5=1593;refseq.end_1=41645071;refseq.end_2=41645071;refseq.end_3=41645071;refseq.end_4=41645071;refseq.end_5=41645071;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=5349;refseq.mrnaCoord_2=5670;refseq.mrnaCoord_3=5349;refseq.mrnaCoord_4=5349;refseq.mrnaCoord_5=4863;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name_1=NM_000037;refseq.name_2=NM_001142446;refseq.name_3=NM_020475;refseq.name_4=NM_020476;refseq.name_5=NM_020477;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V1755V;refseq.proteinCoordStr_2=p.V1796V;refseq.proteinCoordStr_3=p.V1755V;refseq.proteinCoordStr_4=p.V1755V;refseq.proteinCoordStr_5=p.V1593V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=-130;refseq.spliceDist_2=-130;refseq.spliceDist_3=-130;refseq.spliceDist_4=-130;refseq.spliceDist_5=-130;refseq.start_1=41645071;refseq.start_2=41645071;refseq.start_3=41645071;refseq.start_4=41645071;refseq.start_5=41645071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;set=Intersection GT 1/1 chr8 41662952 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.450864;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.4265C>T;refseq.codingCoordStr_2=c.4388C>T;refseq.codingCoordStr_3=c.4265C>T;refseq.codingCoordStr_4=c.4265C>T;refseq.codingCoordStr_5=c.4265C>T;refseq.codonCoord_1=1422;refseq.codonCoord_2=1463;refseq.codonCoord_3=1422;refseq.codonCoord_4=1422;refseq.codonCoord_5=1422;refseq.end_1=41662952;refseq.end_2=41662952;refseq.end_3=41662952;refseq.end_4=41662952;refseq.end_5=41662952;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4349;refseq.mrnaCoord_2=4670;refseq.mrnaCoord_3=4349;refseq.mrnaCoord_4=4349;refseq.mrnaCoord_5=4349;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name_1=NM_000037;refseq.name_2=NM_001142446;refseq.name_3=NM_020475;refseq.name_4=NM_020476;refseq.name_5=NM_020477;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A1422V;refseq.proteinCoordStr_2=p.A1463V;refseq.proteinCoordStr_3=p.A1422V;refseq.proteinCoordStr_4=p.A1422V;refseq.proteinCoordStr_5=p.A1422V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceDist_5=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.spliceInfo_5=splice-acceptor_7;refseq.start_1=41662952;refseq.start_2=41662952;refseq.start_3=41662952;refseq.start_4=41662952;refseq.start_5=41662952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;set=FilteredInAll GT 1/0 chr8 41666905 . G A 290.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.91;MQ0=0;OQ=1931.51;QD=15.96;RankSumP=0.314447;SB=-980.35;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.4101C>T;refseq.codingCoordStr_2=c.4224C>T;refseq.codingCoordStr_3=c.4101C>T;refseq.codingCoordStr_4=c.4101C>T;refseq.codingCoordStr_5=c.4101C>T;refseq.codonCoord_1=1367;refseq.codonCoord_2=1408;refseq.codonCoord_3=1367;refseq.codonCoord_4=1367;refseq.codonCoord_5=1367;refseq.end_1=41666905;refseq.end_2=41666905;refseq.end_3=41666905;refseq.end_4=41666905;refseq.end_5=41666905;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4185;refseq.mrnaCoord_2=4506;refseq.mrnaCoord_3=4185;refseq.mrnaCoord_4=4185;refseq.mrnaCoord_5=4185;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name_1=NM_000037;refseq.name_2=NM_001142446;refseq.name_3=NM_020475;refseq.name_4=NM_020476;refseq.name_5=NM_020477;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A1367A;refseq.proteinCoordStr_2=p.A1408A;refseq.proteinCoordStr_3=p.A1367A;refseq.proteinCoordStr_4=p.A1367A;refseq.proteinCoordStr_5=p.A1367A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceDist_4=-4;refseq.spliceDist_5=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.spliceInfo_4=splice-donor_-4;refseq.spliceInfo_5=splice-donor_-4;refseq.start_1=41666905;refseq.start_2=41666905;refseq.start_3=41666905;refseq.start_4=41666905;refseq.start_5=41666905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;set=Intersection GT 1/0 chr8 41667160 . T C 180.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=97.66;MQ0=0;OQ=1123.71;QD=14.22;RankSumP=0.0428110;SB=-529.96;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.3973A>G;refseq.codingCoordStr_2=c.4096A>G;refseq.codingCoordStr_3=c.3973A>G;refseq.codingCoordStr_4=c.3973A>G;refseq.codingCoordStr_5=c.3973A>G;refseq.codonCoord_1=1325;refseq.codonCoord_2=1366;refseq.codonCoord_3=1325;refseq.codonCoord_4=1325;refseq.codonCoord_5=1325;refseq.end_1=41667160;refseq.end_2=41667160;refseq.end_3=41667160;refseq.end_4=41667160;refseq.end_5=41667160;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4057;refseq.mrnaCoord_2=4378;refseq.mrnaCoord_3=4057;refseq.mrnaCoord_4=4057;refseq.mrnaCoord_5=4057;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name_1=NM_000037;refseq.name_2=NM_001142446;refseq.name_3=NM_020475;refseq.name_4=NM_020476;refseq.name_5=NM_020477;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M1325V;refseq.proteinCoordStr_2=p.M1366V;refseq.proteinCoordStr_3=p.M1325V;refseq.proteinCoordStr_4=p.M1325V;refseq.proteinCoordStr_5=p.M1325V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.spliceDist_4=-12;refseq.spliceDist_5=-12;refseq.start_1=41667160;refseq.start_2=41667160;refseq.start_3=41667160;refseq.start_4=41667160;refseq.start_5=41667160;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/0 chr8 41702451 . C T 195.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.02;MQ0=0;OQ=977.15;QD=15.27;RankSumP=0.690897;SB=-321.86;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.597G>A;refseq.codingCoordStr_2=c.696G>A;refseq.codingCoordStr_3=c.597G>A;refseq.codingCoordStr_4=c.597G>A;refseq.codingCoordStr_5=c.597G>A;refseq.codonCoord_1=199;refseq.codonCoord_2=232;refseq.codonCoord_3=199;refseq.codonCoord_4=199;refseq.codonCoord_5=199;refseq.end_1=41702451;refseq.end_2=41702451;refseq.end_3=41702451;refseq.end_4=41702451;refseq.end_5=41702451;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=681;refseq.mrnaCoord_2=978;refseq.mrnaCoord_3=681;refseq.mrnaCoord_4=681;refseq.mrnaCoord_5=681;refseq.name2_1=ANK1;refseq.name2_2=ANK1;refseq.name2_3=ANK1;refseq.name2_4=ANK1;refseq.name2_5=ANK1;refseq.name_1=NM_000037;refseq.name_2=NM_001142446;refseq.name_3=NM_020475;refseq.name_4=NM_020476;refseq.name_5=NM_020477;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P199P;refseq.proteinCoordStr_2=p.P232P;refseq.proteinCoordStr_3=p.P199P;refseq.proteinCoordStr_4=p.P199P;refseq.proteinCoordStr_5=p.P199P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.spliceDist_5=-16;refseq.start_1=41702451;refseq.start_2=41702451;refseq.start_3=41702451;refseq.start_4=41702451;refseq.start_5=41702451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=Intersection GT 0/1 chr8 42164111 . G A 265.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.81;MQ0=0;OQ=6010.60;QD=35.57;RankSumP=1.00000;SB=-2902.36;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.501C>T;refseq.codingCoordStr_2=c.363C>T;refseq.codonCoord_1=167;refseq.codonCoord_2=121;refseq.end_1=42164111;refseq.end_2=42164111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=710;refseq.mrnaCoord_2=572;refseq.name2_1=PLAT;refseq.name2_2=PLAT;refseq.name_1=NM_000930;refseq.name_2=NM_033011;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D167D;refseq.proteinCoordStr_2=p.D121D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=42164111;refseq.start_2=42164111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr8 42293537 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=12.67;MQ=98.02;MQ0=0;OQ=1319.03;QD=9.16;RankSumP=0.0777866;SB=-459.49;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1083G>A;refseq.codonCoord=361;refseq.end=42293537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_001556;refseq.name2=IKBKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L361L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-43;refseq.start=42293537;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr8 42414028 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1159A>C;refseq.codonCoord=387;refseq.end=42414028;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_006749;refseq.name2=SLC20A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T387P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=225;refseq.start=42414028;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 42414199 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.988A>C;refseq.codonCoord=330;refseq.end=42414199;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1357;refseq.name=NM_006749;refseq.name2=SLC20A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T330P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=54;refseq.start=42414199;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 48674076 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=218;Dels=0.00;HRun=1;HaplotypeScore=21.31;MQ=98.45;MQ0=0;OQ=220.68;QD=1.01;RankSumP=0.00000;SB=257.84;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1309G>T;refseq.codonCoord=437;refseq.end=48674076;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1318;refseq.name=NM_001080394;refseq.name2=KIAA0146;refseq.positionType=CDS;refseq.proteinCoordStr=p.V437L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=16;refseq.start=48674076;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr8 49047989 . T A 300.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.71;MQ0=1;OQ=1722.38;QD=37.44;RankSumP=1.00000;SB=-257.78;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1948T>A;refseq.codingCoordStr_2=c.1948T>A;refseq.codonCoord_1=650;refseq.codonCoord_2=650;refseq.end_1=49047989;refseq.end_2=49047989;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2159;refseq.mrnaCoord_2=2043;refseq.name2_1=MCM4;refseq.name2_2=MCM4;refseq.name_1=NM_005914;refseq.name_2=NM_182746;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L650M;refseq.proteinCoordStr_2=p.L650M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=49047989;refseq.start_2=49047989;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr8 52895514 rs399592 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=58.13;MQ=54.93;MQ0=43;OQ=377.89;QD=1.18;SB=-172.23;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1024C>T;refseq.codonCoord=342;refseq.end=52895514;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P342S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=318;refseq.start=52895514;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:266,33:259:-166.58,-125.50,-924.99:99 chr8 52895556 . C T 2.48 PASS AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=11.60;MQ=70.24;MQ0=9;OQ=2780.58;QD=11.59;SB=-1039.27;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.982G>A;refseq.codonCoord=328;refseq.end=52895556;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1323;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E328K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=276;refseq.start=52895556;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:145,95:223:-348.49,-67.15,-590.49:99 chr8 52895569 . T C 1.03 PASS AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=75.96;MQ0=9;OQ=2000.28;QD=9.53;SB=-738.90;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.969A>G;refseq.codonCoord=323;refseq.end=52895569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1310;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A323A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=263;refseq.start=52895569;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:125,85:191:-260.83,-57.52,-523.32:99 chr8 52895576 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=49.18;MQ=80.53;MQ0=1;OQ=1171.99;QD=5.58;SB=-432.65;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.962A>G;refseq.codonCoord=321;refseq.end=52895576;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N321S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=256;refseq.start=52895576;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:130,80:172:-172.28,-51.80,-551.49:99 chr8 52895582 rs554768 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=62.85;MQ=80.82;MQ0=3;OQ=153.74;QD=0.66;SB=-79.03;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.956A>G;refseq.codonCoord=319;refseq.end=52895582;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D319G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=250;refseq.start=52895582;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:181,53:169:-69.56,-50.91,-616.23:99 chr8 52895590 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=264;Dels=0.00;HRun=1;HaplotypeScore=59.66;MQ=81.41;MQ0=2;OQ=1013.79;QD=3.84;SB=-85.95;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.948G>A;refseq.codonCoord=316;refseq.end=52895590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E316E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=242;refseq.start=52895590;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:153,111:192:-162.48,-57.82,-623.60:99 chr8 52895602 . G A 1053.59 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=331;Dels=0.00;HRun=0;HaplotypeScore=144.55;MQ=80.67;MQ0=17;QD=3.18;SB=-76.26;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.936C>T;refseq.codonCoord=312;refseq.end=52895602;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N312N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=230;refseq.start=52895602;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:223,105:248:-183.32,-74.68,-848.12:99 chr8 52895603 . T A 6182.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=150.55;MQ=80.36;MQ0=17;QD=17.92;RankSumP=0.388346;SB=-1895.45;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.935A>T;refseq.codonCoord=312;refseq.end=52895603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1276;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N312I;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=229;refseq.start=52895603;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/0 chr8 52895607 . C T 5255.31 SnpCluster AC=1;AF=0.50;AN=2;DP=396;Dels=0.00;HRun=1;HaplotypeScore=172.56;MQ=80.44;MQ0=19;QD=13.27;SB=-1276.11;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.931G>A;refseq.codonCoord=311;refseq.end=52895607;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D311N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=225;refseq.start=52895607;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:267,129:356:-524.53,-107.19,-945.13:99 chr8 52895608 . C T 8580.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=405;Dels=0.00;HRun=1;HaplotypeScore=172.56;MQ=80.57;MQ0=19;QD=21.19;RankSumP=0.311171;SB=-1454.79;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.930G>A;refseq.codonCoord=310;refseq.end=52895608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1271;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E310E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=224;refseq.start=52895608;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap-filterIngatk GT 0/1 chr8 52895629 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=828;Dels=0.00;HRun=1;HaplotypeScore=283.59;MQ=84.62;MQ0=19;OQ=21394.44;QD=25.84;RankSumP=0.172220;SB=-4213.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.909A>G;refseq.codonCoord=303;refseq.end=52895629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E303E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=203;refseq.start=52895629;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr8 52895632 . A C -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=924;Dels=0.00;HRun=1;HaplotypeScore=280.47;MQ=84.79;MQ0=19;OQ=8451.47;QD=9.15;SB=-1146.30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.906T>G;refseq.codonCoord=302;refseq.end=52895632;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1247;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S302R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=200;refseq.start=52895632;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:693,231:801:-844.15,-241.19,-2258.23:99 chr8 52895674 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1628;Dels=0.00;HRun=0;HaplotypeScore=277.22;MQ=84.00;MQ0=69;OQ=1051.37;QD=0.65;SB=-251.40;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.864C>T;refseq.codonCoord=288;refseq.end=52895674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1205;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y288Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=158;refseq.start=52895674;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1485,142:1356:-516.78,-408.36,-4851.89:99 chr8 52895681 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1652;Dels=0.00;HRun=1;HaplotypeScore=280.45;MQ=83.83;MQ0=82;OQ=47951.06;QD=29.03;RankSumP=0.00548137;SB=-20080.71;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.857A>C;refseq.codonCoord=286;refseq.end=52895681;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N286T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=151;refseq.start=52895681;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr8 52895696 . A G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1600;Dels=0.00;HRun=0;HaplotypeScore=269.76;MQ=81.54;MQ0=163;OQ=1706.13;QD=1.07;SB=-731.25;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.842T>C;refseq.codonCoord=281;refseq.end=52895696;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V281A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=136;refseq.start=52895696;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1430,168:1276:-558.16,-384.26,-4912.50:99 chr8 52895701 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1554;Dels=0.00;HRun=3;HaplotypeScore=271.96;MQ=80.72;MQ0=185;OQ=10152.02;QD=6.53;RankSumP=0.318717;SB=-3054.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.837G>A;refseq.codonCoord=279;refseq.end=52895701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K279K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=131;refseq.start=52895701;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 0/1 chr8 52895749 . C A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.494610;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.789G>T;refseq.codonCoord=263;refseq.end=52895749;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M263I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=83;refseq.start=52895749;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr8 52895781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=466;Dels=0.00;HRun=0;HaplotypeScore=96.02;MQ=65.88;MQ0=153;OQ=2775.78;QD=5.96;RankSumP=0.413666;SB=-415.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.757C>T;refseq.codonCoord=253;refseq.end=52895781;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R253C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=51;refseq.start=52895781;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 1/0 chr8 52895784 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=423;Dels=0.00;HRun=2;HaplotypeScore=93.76;MQ=66.14;MQ0=136;OQ=1665.59;QD=3.94;RankSumP=0.0180737;SB=-105.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.754C>T;refseq.codonCoord=252;refseq.end=52895784;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R252*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=48;refseq.start=52895784;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap-filterIngatk GT 1/0 chr8 52895795 . C T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.412067;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.743G>A;refseq.codonCoord=248;refseq.end=52895795;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1084;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R248H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=37;refseq.start=52895795;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr8 52908706 . C T 300.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.42;MQ0=0;OQ=5027.35;QD=39.59;RankSumP=1.00000;SB=-2430.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.507G>A;refseq.codonCoord=169;refseq.end=52908706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_052937;refseq.name2=PCMTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V169V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-76;refseq.start=52908706;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr8 53699869 . A G 330.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.38;MQ0=0;OQ=7663.11;QD=39.50;RankSumP=1.00000;SB=-3084.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.4659T>C;refseq.codingCoordStr_2=c.4668T>C;refseq.codonCoord_1=1553;refseq.codonCoord_2=1556;refseq.end_1=53699869;refseq.end_2=53699869;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5217;refseq.mrnaCoord_2=5226;refseq.name2_1=RB1CC1;refseq.name2_2=RB1CC1;refseq.name_1=NM_001083617;refseq.name_2=NM_014781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1553L;refseq.proteinCoordStr_2=p.L1556L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=53699869;refseq.start_2=53699869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr8 53717622 . A G 425.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.59;MQ0=0;OQ=10123.85;QD=41.66;RankSumP=1.00000;SB=-3201.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.4179T>C;refseq.codingCoordStr_2=c.4179T>C;refseq.codonCoord_1=1393;refseq.codonCoord_2=1393;refseq.end_1=53717622;refseq.end_2=53717622;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4737;refseq.mrnaCoord_2=4737;refseq.name2_1=RB1CC1;refseq.name2_2=RB1CC1;refseq.name_1=NM_001083617;refseq.name_2=NM_014781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1393R;refseq.proteinCoordStr_2=p.R1393R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=53717622;refseq.start_2=53717622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr8 53749259 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=706;Dels=0.00;HRun=0;HaplotypeScore=30.44;MQ=98.78;MQ0=0;OQ=26879.82;QD=38.07;RankSumP=1.00000;SB=-11459.26;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.701T>C;refseq.codingCoordStr_2=c.701T>C;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.end_1=53749259;refseq.end_2=53749259;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1259;refseq.mrnaCoord_2=1259;refseq.name2_1=RB1CC1;refseq.name2_2=RB1CC1;refseq.name_1=NM_001083617;refseq.name_2=NM_014781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M234T;refseq.proteinCoordStr_2=p.M234T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=129;refseq.spliceDist_2=129;refseq.start_1=53749259;refseq.start_2=53749259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr8 54015384 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.364T>C;refseq.codonCoord=122;refseq.end=54015384;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_005285;refseq.name2=NPBWR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S122P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=364;refseq.start=54015384;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 55534677 . C T 25.30 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.92;MQ0=0;QD=2.11;SB=-28.47;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.814C>T;refseq.codonCoord=272;refseq.end=55534677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_022454;refseq.name2=SOX17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P272S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=507;refseq.start=55534677;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:10:-8.82,-3.01,-31.05:58.13 chr8 55701948 . A T 319.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.78;MQ0=0;OQ=11068.87;QD=39.96;RankSumP=1.00000;SB=-4350.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2953A>T;refseq.codonCoord=985;refseq.end=55701948;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3101;refseq.name=NM_006269;refseq.name2=RP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N985Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=2166;refseq.start=55701948;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr8 55703639 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00358998;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4644T>G;refseq.codonCoord=1548;refseq.end=55703639;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4792;refseq.name=NM_006269;refseq.name2=RP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1548R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-2309;refseq.start=55703639;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr8 55705093 . G A 196.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=99.00;MQ0=0;OQ=13246.63;QD=42.19;RankSumP=1.00000;SB=-6202.88;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.6098G>A;refseq.codonCoord=2033;refseq.end=55705093;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6246;refseq.name=NM_006269;refseq.name2=RP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2033Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-855;refseq.start=55705093;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr8 56598976 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1589A>C;refseq.codonCoord=530;refseq.end=56598976;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_052898;refseq.name2=XKR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D530A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=583;refseq.start=56598976;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr8 56848778 . T C 440.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.72;MQ0=0;OQ=7394.68;QD=40.63;RankSumP=1.00000;SB=-3141.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.47T>C;refseq.codonCoord=16;refseq.end=56848778;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_024831;refseq.name2=TGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I16T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-55;refseq.start=56848778;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr8 56871126 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1403T>G;refseq.codonCoord=468;refseq.end=56871126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1790;refseq.name=NM_024831;refseq.name2=TGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V468G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=36;refseq.start=56871126;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr8 56899798 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2544A>C;refseq.codonCoord=848;refseq.end=56899798;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2931;refseq.name=NM_024831;refseq.name2=TGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R848S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=105;refseq.start=56899798;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr8 57148368 . T C 110.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=85.88;MQ0=12;OQ=1694.02;QD=13.13;RankSumP=0.231678;SB=-667.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.195A>G;refseq.codingCoordStr_2=c.195A>G;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=57148368;refseq.end_2=57148368;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=393;refseq.name2_1=RPS20;refseq.name2_2=RPS20;refseq.name_1=NM_001023;refseq.name_2=NM_001146227;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T65T;refseq.proteinCoordStr_2=p.T65T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=57148368;refseq.start_2=57148368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr8 57148971 . A G 310.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.83;MQ0=0;OQ=4399.56;QD=21.57;RankSumP=0.0864443;SB=-1683.48;SecondBestBaseQ=32;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.end_1=57149162;refseq.end_2=57149162;refseq.end_3=57148971;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=44;refseq.name2_1=RPS20;refseq.name2_2=RPS20;refseq.name2_3=SNORD54;refseq.name_1=NM_001023;refseq.name_2=NM_001146227;refseq.name_3=NR_002437;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-20;refseq.start_1=57148892;refseq.start_2=57148892;refseq.start_3=57148971;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 0/1 chr8 57149202 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=351;Dels=0.00;HRun=2;HaplotypeScore=47.56;MQ=92.99;MQ0=1;OQ=143.69;QD=0.41;RankSumP=0.00000;SB=417.39;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.74C>A;refseq.codingCoordStr_2=c.74C>A;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=57149202;refseq.end_2=57149202;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=272;refseq.mrnaCoord_2=272;refseq.name2_1=RPS20;refseq.name2_2=RPS20;refseq.name_1=NM_001023;refseq.name_2=NM_001146227;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T25K;refseq.proteinCoordStr_2=p.T25K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=57149202;refseq.start_2=57149202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr8 57188783 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=16.97;MQ=98.48;MQ0=0;OQ=8837.87;QD=15.98;RankSumP=0.0392522;SB=-3603.60;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.313G>T;refseq.codonCoord=105;refseq.end=57188783;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_005372;refseq.name2=MOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A105S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=313;refseq.start=57188783;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr8 57241487 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=921.78;QD=14.87;RankSumP=0.500009;SB=-334.25;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1372C>A;refseq.codingCoordStr_2=c.1126C>A;refseq.codingCoordStr_3=c.1372C>A;refseq.codonCoord_1=458;refseq.codonCoord_2=376;refseq.codonCoord_3=458;refseq.end_1=57241487;refseq.end_2=57241487;refseq.end_3=57241487;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1768;refseq.mrnaCoord_2=1409;refseq.mrnaCoord_3=1873;refseq.name2_1=PLAG1;refseq.name2_2=PLAG1;refseq.name2_3=PLAG1;refseq.name_1=NM_001114634;refseq.name_2=NM_001114635;refseq.name_3=NM_002655;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P458T;refseq.proteinCoordStr_2=p.P376T;refseq.proteinCoordStr_3=p.P458T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=1130;refseq.spliceDist_2=1130;refseq.spliceDist_3=1130;refseq.start_1=57241487;refseq.start_2=57241487;refseq.start_3=57241487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr8 57241812 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1047A>C;refseq.codingCoordStr_2=c.801A>C;refseq.codingCoordStr_3=c.1047A>C;refseq.codonCoord_1=349;refseq.codonCoord_2=267;refseq.codonCoord_3=349;refseq.end_1=57241812;refseq.end_2=57241812;refseq.end_3=57241812;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1443;refseq.mrnaCoord_2=1084;refseq.mrnaCoord_3=1548;refseq.name2_1=PLAG1;refseq.name2_2=PLAG1;refseq.name2_3=PLAG1;refseq.name_1=NM_001114634;refseq.name_2=NM_001114635;refseq.name_3=NM_002655;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E349D;refseq.proteinCoordStr_2=p.E267D;refseq.proteinCoordStr_3=p.E349D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=805;refseq.spliceDist_2=805;refseq.spliceDist_3=805;refseq.start_1=57241812;refseq.start_2=57241812;refseq.start_3=57241812;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=FilteredInAll GT 1/0 chr8 59491992 . A G 177.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.75;MQ0=0;OQ=6983.59;QD=19.45;RankSumP=0.247477;SB=-2430.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.114A>G;refseq.codonCoord=38;refseq.end=59491992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_001077619;refseq.name2=UBXN2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E38E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=30;refseq.start=59491992;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr8 59572047 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=310;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=98.78;MQ0=0;OQ=6433.44;QD=20.75;RankSumP=0.475626;SB=-1868.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.578C>T;refseq.codonCoord=193;refseq.end=59572047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_000780;refseq.name2=CYP7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T193I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=257;refseq.start=59572047;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr8 59646022 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.74A>C;refseq.codingCoordStr_2=c.56A>C;refseq.codingCoordStr_3=c.74A>C;refseq.codingCoordStr_4=c.74A>C;refseq.codingCoordStr_5=c.74A>C;refseq.codonCoord_1=25;refseq.codonCoord_2=19;refseq.codonCoord_3=25;refseq.codonCoord_4=25;refseq.codonCoord_5=25;refseq.end_1=59646022;refseq.end_2=59646022;refseq.end_3=59646022;refseq.end_4=59646022;refseq.end_5=59646022;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=221;refseq.mrnaCoord_2=206;refseq.mrnaCoord_3=224;refseq.mrnaCoord_4=221;refseq.mrnaCoord_5=224;refseq.name2_1=SDCBP;refseq.name2_2=SDCBP;refseq.name2_3=SDCBP;refseq.name2_4=SDCBP;refseq.name2_5=SDCBP;refseq.name_1=NM_001007067;refseq.name_2=NM_001007068;refseq.name_3=NM_001007069;refseq.name_4=NM_001007070;refseq.name_5=NM_005625;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N25T;refseq.proteinCoordStr_2=p.N19T;refseq.proteinCoordStr_3=p.N25T;refseq.proteinCoordStr_4=p.N25T;refseq.proteinCoordStr_5=p.N25T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.spliceDist_5=23;refseq.start_1=59646022;refseq.start_2=59646022;refseq.start_3=59646022;refseq.start_4=59646022;refseq.start_5=59646022;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=FilteredInAll GT 0/1 chr8 59654859 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.322000;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.702G>A;refseq.codingCoordStr_2=c.684G>A;refseq.codingCoordStr_3=c.699G>A;refseq.codingCoordStr_4=c.699G>A;refseq.codingCoordStr_5=c.702G>A;refseq.codonCoord_1=234;refseq.codonCoord_2=228;refseq.codonCoord_3=233;refseq.codonCoord_4=233;refseq.codonCoord_5=234;refseq.end_1=59654859;refseq.end_2=59654859;refseq.end_3=59654859;refseq.end_4=59654859;refseq.end_5=59654859;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=849;refseq.mrnaCoord_2=834;refseq.mrnaCoord_3=849;refseq.mrnaCoord_4=846;refseq.mrnaCoord_5=852;refseq.name2_1=SDCBP;refseq.name2_2=SDCBP;refseq.name2_3=SDCBP;refseq.name2_4=SDCBP;refseq.name2_5=SDCBP;refseq.name_1=NM_001007067;refseq.name_2=NM_001007068;refseq.name_3=NM_001007069;refseq.name_4=NM_001007070;refseq.name_5=NM_005625;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T234T;refseq.proteinCoordStr_2=p.T228T;refseq.proteinCoordStr_3=p.T233T;refseq.proteinCoordStr_4=p.T233T;refseq.proteinCoordStr_5=p.T234T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.spliceDist_5=-49;refseq.start_1=59654859;refseq.start_2=59654859;refseq.start_3=59654859;refseq.start_4=59654859;refseq.start_5=59654859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=FilteredInAll GT 1/0 chr8 59674888 . G A 324.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=99.00;MQ0=0;OQ=1407.04;QD=37.03;RankSumP=1.00000;SB=-176.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1521C>T;refseq.codingCoordStr_2=c.1428C>T;refseq.codonCoord_1=507;refseq.codonCoord_2=476;refseq.end_1=59674888;refseq.end_2=59674888;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1582;refseq.mrnaCoord_2=1642;refseq.name2_1=NSMAF;refseq.name2_2=NSMAF;refseq.name_1=NM_001144772;refseq.name_2=NM_003580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D507D;refseq.proteinCoordStr_2=p.D476D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=59674888;refseq.start_2=59674888;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr8 59890536 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1307A>C;refseq.codonCoord=436;refseq.end=59890536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_014729;refseq.name2=TOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.H436P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-86;refseq.start=59890536;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 59901992 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.84;MQ0=0;OQ=1822.62;QD=11.84;RankSumP=0.0406821;SB=-869.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.948T>G;refseq.codonCoord=316;refseq.end=59901992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_014729;refseq.name2=TOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.A316A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=24;refseq.start=59901992;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr8 61341128 . T C 233.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.53;MQ0=0;OQ=2878.72;QD=22.32;RankSumP=0.475242;SB=-1183.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.327A>G;refseq.codonCoord=109;refseq.end=61341128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_004056;refseq.name2=CA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E109E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=35;refseq.start=61341128;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr8 62574629 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1039A>C;refseq.codonCoord=347;refseq.end=62574629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_173519;refseq.name2=CLVS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T347P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=62;refseq.start=62574629;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr8 62651888 . C T 306.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=10.42;MQ=98.50;MQ0=0;OQ=4451.76;QD=20.80;RankSumP=0.0620372;SB=-1415.01;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1059G>A;refseq.codingCoordStr_2=c.1146G>A;refseq.codonCoord_1=353;refseq.codonCoord_2=382;refseq.end_1=62651888;refseq.end_2=62651888;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=1415;refseq.name2_1=ASPH;refseq.name2_2=ASPH;refseq.name_1=NM_001164750;refseq.name_2=NM_004318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A353A;refseq.proteinCoordStr_2=p.A382A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=62651888;refseq.start_2=62651888;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr8 64101318 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.81;MQ0=0;OQ=7989.05;QD=21.71;RankSumP=0.244009;SB=-3406.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.452C>T;refseq.codonCoord=151;refseq.end=64101318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_003878;refseq.name2=GGH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-48;refseq.start=64101318;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr8 64113791 . C T 108.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=99.00;MQ0=0;OQ=955.53;QD=14.70;RankSumP=0.0597127;SB=-458.84;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.91G>A;refseq.codonCoord=31;refseq.end=64113791;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_003878;refseq.name2=GGH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A31T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-19;refseq.start=64113791;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr8 64113866 . A G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=98.42;MQ0=0;OQ=167.68;QD=4.79;RankSumP=0.413617;SB=-7.00;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.16T>C;refseq.codonCoord=6;refseq.end=64113866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_003878;refseq.name2=GGH;refseq.positionType=CDS;refseq.proteinCoordStr=p.C6R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-94;refseq.start=64113866;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr8 66854565 . C T 117.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=3.59;MQ=98.98;MQ0=0;OQ=6034.22;QD=20.45;RankSumP=0.392369;SB=-2519.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.149G>A;refseq.codingCoordStr_2=c.227G>A;refseq.codonCoord_1=50;refseq.codonCoord_2=76;refseq.end_1=66854565;refseq.end_2=66854565;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=294;refseq.mrnaCoord_2=239;refseq.name2_1=PDE7A;refseq.name2_2=PDE7A;refseq.name_1=NM_002603;refseq.name_2=NM_002604;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G50E;refseq.proteinCoordStr_2=p.G76E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=66854565;refseq.start_2=66854565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr8 67543082 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=98.56;MQ0=0;OQ=1744.17;QD=13.63;RankSumP=0.394891;SB=-746.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1345T>C;refseq.codonCoord=449;refseq.end=67543082;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_144650;refseq.name2=ADHFE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C449R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=25;refseq.start=67543082;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr8 67754706 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=98.88;MQ0=0;OQ=1873.73;QD=20.37;RankSumP=0.464689;SB=-492.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.443T>C;refseq.codonCoord=148;refseq.end=67754706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_019607;refseq.name2=C8orf44;refseq.positionType=CDS;refseq.proteinCoordStr=p.F148S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=197;refseq.start=67754706;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr8 68497336 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=413;Dels=0.00;HRun=1;HaplotypeScore=14.04;MQ=98.90;MQ0=0;OQ=7899.52;QD=19.13;RankSumP=0.257181;SB=-2852.59;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.539C>T;refseq.codingCoordStr_2=c.1271C>T;refseq.codonCoord_1=180;refseq.codonCoord_2=424;refseq.end_1=68497336;refseq.end_2=68497336;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=1527;refseq.name2_1=CPA6;refseq.name2_2=CPA6;refseq.name_1=NM_001127445;refseq.name_2=NM_020361;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A180V;refseq.proteinCoordStr_2=p.A424V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.start_1=68497336;refseq.start_2=68497336;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr8 68502855 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1107A>C;refseq.codonCoord_2=369;refseq.end_1=68558546;refseq.end_2=68502855;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1363;refseq.name2_1=CPA6;refseq.name2_2=CPA6;refseq.name_1=NM_001127445;refseq.name_2=NM_020361;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G369G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=-20;refseq.start_1=68497491;refseq.start_2=68502855;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr8 69027282 . G A 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.08;MQ0=0;OQ=1391.51;QD=37.61;RankSumP=1.00000;SB=-662.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.99G>A;refseq.codingCoordStr_2=c.99G>A;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=69027282;refseq.end_2=69027282;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=126;refseq.mrnaCoord_2=126;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K33K;refseq.proteinCoordStr_2=p.K33K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=69027282;refseq.start_2=69027282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr8 69130720 . C A 145.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.75;MQ0=0;OQ=5070.10;QD=13.85;RankSumP=0.000785936;SB=-1629.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1195C>A;refseq.codingCoordStr_2=c.1195C>A;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.end_1=69130720;refseq.end_2=69130720;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1222;refseq.mrnaCoord_2=1222;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R399R;refseq.proteinCoordStr_2=p.R399R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=69130720;refseq.start_2=69130720;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=filterInsoap-gatk GT 1/0 chr8 69130725 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=3;HaplotypeScore=12.62;MQ=98.69;MQ0=0;OQ=6033.96;QD=15.75;RankSumP=5.98765e-05;SB=-1861.03;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1200G>A;refseq.codingCoordStr_2=c.1200G>A;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=69130725;refseq.end_2=69130725;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1227;refseq.mrnaCoord_2=1227;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K400K;refseq.proteinCoordStr_2=p.K400K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=69130725;refseq.start_2=69130725;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=filterInsoap-gatk GT 1/0 chr8 69155567 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=98.83;MQ0=0;OQ=3093.31;QD=15.47;RankSumP=0.368056;SB=-1332.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1818A>G;refseq.codingCoordStr_2=c.1818A>G;refseq.codonCoord_1=606;refseq.codonCoord_2=606;refseq.end_1=69155567;refseq.end_2=69155567;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1845;refseq.mrnaCoord_2=1845;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G606G;refseq.proteinCoordStr_2=p.G606G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=69155567;refseq.start_2=69155567;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr8 69155568 . T C 253.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=3113.14;QD=15.41;RankSumP=0.488696;SB=-1467.59;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1819T>C;refseq.codingCoordStr_2=c.1819T>C;refseq.codonCoord_1=607;refseq.codonCoord_2=607;refseq.end_1=69155568;refseq.end_2=69155568;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1846;refseq.mrnaCoord_2=1846;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L607L;refseq.proteinCoordStr_2=p.L607L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=69155568;refseq.start_2=69155568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr8 69171822 . C T 128.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=2;HaplotypeScore=7.32;MQ=98.73;MQ0=0;OQ=6442.38;QD=16.11;RankSumP=0.298089;SB=-1405.81;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2385C>T;refseq.codingCoordStr_2=c.2385C>T;refseq.codonCoord_1=795;refseq.codonCoord_2=795;refseq.end_1=69171822;refseq.end_2=69171822;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2412;refseq.mrnaCoord_2=2412;refseq.name2_1=PREX2;refseq.name2_2=PREX2;refseq.name_1=NM_024870;refseq.name_2=NM_025170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F795F;refseq.proteinCoordStr_2=p.F795F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=69171822;refseq.start_2=69171822;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr8 69183050 . T C 365.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=8.16;MQ=98.66;MQ0=0;OQ=4718.03;QD=18.36;RankSumP=0.331431;SB=-1858.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2868T>C;refseq.codonCoord=956;refseq.end=69183050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2895;refseq.name=NM_024870;refseq.name2=PREX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S956S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-71;refseq.start=69183050;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr8 69267277 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4567G>C;refseq.codonCoord=1523;refseq.end=69267277;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4594;refseq.name=NM_024870;refseq.name2=PREX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1523P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-38;refseq.start=69267277;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr8 69306143 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=98.30;MQ0=0;OQ=1437.62;QD=10.73;RankSumP=0.00717910;SB=-573.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.4797A>G;refseq.codonCoord=1599;refseq.end=69306143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4824;refseq.name=NM_024870;refseq.name2=PREX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1599P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=22;refseq.start=69306143;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 0/1 chr8 69514322 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.29A>C;refseq.codonCoord=10;refseq.end=69514322;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_052958;refseq.name2=C8orf34;refseq.positionType=CDS;refseq.proteinCoordStr=p.D10A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-114;refseq.start=69514322;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr8 70906736 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.727A>C;refseq.codingCoordStr_2=c.727A>C;refseq.codingCoordStr_3=c.727A>C;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.codonCoord_3=243;refseq.end_1=70906736;refseq.end_2=70906736;refseq.end_3=70906736;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1444;refseq.mrnaCoord_2=1223;refseq.mrnaCoord_3=1434;refseq.name2_1=SLCO5A1;refseq.name2_2=SLCO5A1;refseq.name2_3=SLCO5A1;refseq.name_1=NM_001146008;refseq.name_2=NM_001146009;refseq.name_3=NM_030958;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T243P;refseq.proteinCoordStr_2=p.T243P;refseq.proteinCoordStr_3=p.T243P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-181;refseq.spliceDist_2=-181;refseq.spliceDist_3=-181;refseq.start_1=70906736;refseq.start_2=70906736;refseq.start_3=70906736;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr8 70907366 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=5.64;MQ=99.00;MQ0=0;OQ=710.94;QD=11.85;RankSumP=0.194852;SB=-350.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.97C>T;refseq.codingCoordStr_2=c.97C>T;refseq.codingCoordStr_3=c.97C>T;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=70907366;refseq.end_2=70907366;refseq.end_3=70907366;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=814;refseq.mrnaCoord_2=593;refseq.mrnaCoord_3=804;refseq.name2_1=SLCO5A1;refseq.name2_2=SLCO5A1;refseq.name2_3=SLCO5A1;refseq.name_1=NM_001146008;refseq.name_2=NM_001146009;refseq.name_3=NM_030958;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L33F;refseq.proteinCoordStr_2=p.L33F;refseq.proteinCoordStr_3=p.L33F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-811;refseq.spliceDist_2=593;refseq.spliceDist_3=593;refseq.start_1=70907366;refseq.start_2=70907366;refseq.start_3=70907366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/0 chr8 71126953 . A G 229.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=8.21;MQ=98.68;MQ0=0;OQ=2755.40;QD=14.50;RankSumP=0.497855;SB=-936.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1629T>C;refseq.codonCoord=543;refseq.end=71126953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_024504;refseq.name2=PRDM14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D543D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=141;refseq.start=71126953;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr8 71130161 . T C 366.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.75;MQ0=0;OQ=6839.78;QD=18.59;RankSumP=0.191567;SB=-1679.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1416A>G;refseq.codonCoord=472;refseq.end=71130161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_024504;refseq.name2=PRDM14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q472Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=30;refseq.start=71130161;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr8 71755979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=912;Dels=0.00;HRun=0;HaplotypeScore=15.74;MQ=98.85;MQ0=0;OQ=19563.04;QD=21.45;RankSumP=0.0998958;SB=-7624.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.132G>A;refseq.codonCoord=44;refseq.end=71755979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=666;refseq.name=NM_001011720;refseq.name2=XKR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A44A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-141;refseq.start=71755979;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr8 71808829 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=161;Dels=0.00;HRun=3;HaplotypeScore=7.99;MQ=98.71;MQ0=0;OQ=2434.70;QD=15.12;RankSumP=0.261057;SB=-1203.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.738A>T;refseq.codonCoord=246;refseq.end=71808829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_001011720;refseq.name2=XKR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A246A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=245;refseq.start=71808829;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr8 72274153 . A G 181 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.89;MQ0=0;OQ=1787.72;QD=14.08;RankSumP=0.0636136;SB=-856.58;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.1755T>C;refseq.codingCoordStr_2=c.1755T>C;refseq.codingCoordStr_3=c.1650T>C;refseq.codingCoordStr_4=c.1656T>C;refseq.codonCoord_1=585;refseq.codonCoord_2=585;refseq.codonCoord_3=550;refseq.codonCoord_4=552;refseq.end_1=72274153;refseq.end_2=72274153;refseq.end_3=72274153;refseq.end_4=72274153;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2395;refseq.mrnaCoord_2=2042;refseq.mrnaCoord_3=1937;refseq.mrnaCoord_4=1914;refseq.name2_1=EYA1;refseq.name2_2=EYA1;refseq.name2_3=EYA1;refseq.name2_4=EYA1;refseq.name_1=NM_000503;refseq.name_2=NM_172058;refseq.name_3=NM_172059;refseq.name_4=NM_172060;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H585H;refseq.proteinCoordStr_2=p.H585H;refseq.proteinCoordStr_3=p.H550H;refseq.proteinCoordStr_4=p.H552H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.spliceDist_4=57;refseq.start_1=72274153;refseq.start_2=72274153;refseq.start_3=72274153;refseq.start_4=72274153;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 0/1 chr8 73098699 . T C 436.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=99.00;MQ0=0;OQ=5473.18;QD=37.49;RankSumP=1.00000;SB=-1698.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3053A>G;refseq.codonCoord=1018;refseq.end=73098699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3228;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1018R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=73098699;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr8 73128556 . G A 108.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.81;MQ0=0;OQ=2861.09;QD=20.01;RankSumP=0.410765;SB=-636.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1630C>T;refseq.codonCoord=544;refseq.end=73128556;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1805;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L544L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-15;refseq.start=73128556;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr8 73138355 . T G 421.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.69;MQ0=0;OQ=7212.99;QD=41.69;RankSumP=1.00000;SB=-1502.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.558A>C;refseq.codonCoord=186;refseq.end=73138355;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K186N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=73138355;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 73140257 . C T 105.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=2;HaplotypeScore=3.98;MQ=98.47;MQ0=0;OQ=2957.35;QD=16.61;RankSumP=0.237158;SB=-997.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.535G>A;refseq.codonCoord=179;refseq.end=73140257;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E179K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-18;refseq.start=73140257;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr8 73143872 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=798;Dels=0.00;HRun=2;HaplotypeScore=17.01;MQ=98.82;MQ0=0;OQ=14522.36;QD=18.20;RankSumP=0.0358814;SB=-5329.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.384C>T;refseq.codonCoord=128;refseq.end=73143872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N128N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-61;refseq.start=73143872;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr8 73143881 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=673;Dels=0.00;HRun=1;HaplotypeScore=6.44;MQ=98.81;MQ0=0;OQ=26964.17;QD=40.07;RankSumP=1.00000;SB=-9126.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.375T>C;refseq.codonCoord=125;refseq.end=73143881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N125N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-70;refseq.start=73143881;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 73146595 . C G 146.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.90;MQ0=0;OQ=1995.68;QD=23.21;RankSumP=0.317410;SB=-828.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.173G>C;refseq.codonCoord=58;refseq.end=73146595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R58T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=62;refseq.start=73146595;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr8 73150192 . G A 328.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=8.59;MQ=85.62;MQ0=0;OQ=5548.88;QD=20.40;RankSumP=0.427546;SB=-1385.68;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.7C>T;refseq.codonCoord=3;refseq.end=73150192;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_007332;refseq.name2=TRPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-105;refseq.start=73150192;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr8 74012757 . G A 139.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=3.91;MQ=98.95;MQ0=0;OQ=7428.60;QD=23.00;RankSumP=0.0623807;SB=-2802.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2613G>A;refseq.codonCoord=871;refseq.end=74012757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3201;refseq.name=NM_004770;refseq.name2=KCNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V871V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-382;refseq.start=74012757;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr8 74120798 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.280287;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1132T>C;refseq.codingCoordStr_2=c.1192T>C;refseq.codonCoord_1=378;refseq.codonCoord_2=398;refseq.end_1=74120798;refseq.end_2=74120798;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1157;refseq.mrnaCoord_2=1217;refseq.name2_1=TERF1;refseq.name2_2=TERF1;refseq.name_1=NM_003218;refseq.name_2=NM_017489;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y378H;refseq.proteinCoordStr_2=p.Y398H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=74120798;refseq.start_2=74120798;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap GT 1/0 chr8 74120827 . G A 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.211857;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1161G>A;refseq.codingCoordStr_2=c.1221G>A;refseq.codonCoord_1=387;refseq.codonCoord_2=407;refseq.end_1=74120827;refseq.end_2=74120827;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1186;refseq.mrnaCoord_2=1246;refseq.name2_1=TERF1;refseq.name2_2=TERF1;refseq.name_1=NM_003218;refseq.name_2=NM_017489;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L387L;refseq.proteinCoordStr_2=p.L407L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=74120827;refseq.start_2=74120827;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=soap GT 1/0 chr8 74144715 . A G 199.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=99.00;MQ0=0;OQ=5078.20;QD=19.02;RankSumP=0.317969;SB=-2024.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.556T>C;refseq.codonCoord=186;refseq.end=74144715;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_153225;refseq.name2=C8orf84;refseq.positionType=CDS;refseq.proteinCoordStr=p.W186R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=56;refseq.start=74144715;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr8 74690550 . C T 301.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.52;MQ0=0;OQ=15260.61;QD=41.70;RankSumP=1.00000;SB=-5632.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_1=c.592G>A;refseq.codingCoordStr_2=c.496G>A;refseq.codingCoordStr_3=c.280G>A;refseq.codingCoordStr_4=c.76G>A;refseq.codingCoordStr_5=c.496G>A;refseq.codingCoordStr_6=c.478G>A;refseq.codingCoordStr_7=c.496G>A;refseq.codonCoord_1=198;refseq.codonCoord_2=166;refseq.codonCoord_3=94;refseq.codonCoord_4=26;refseq.codonCoord_5=166;refseq.codonCoord_6=160;refseq.codonCoord_7=166;refseq.end_1=74690550;refseq.end_2=74690550;refseq.end_3=74690550;refseq.end_4=74690550;refseq.end_5=74690550;refseq.end_6=74690550;refseq.end_7=74690550;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=933;refseq.mrnaCoord_2=802;refseq.mrnaCoord_3=642;refseq.mrnaCoord_4=327;refseq.mrnaCoord_5=866;refseq.mrnaCoord_6=623;refseq.mrnaCoord_7=802;refseq.name2_1=STAU2;refseq.name2_2=STAU2;refseq.name2_3=STAU2;refseq.name2_4=STAU2;refseq.name2_5=STAU2;refseq.name2_6=STAU2;refseq.name2_7=STAU2;refseq.name_1=NM_001164380;refseq.name_2=NM_001164381;refseq.name_3=NM_001164382;refseq.name_4=NM_001164383;refseq.name_5=NM_001164384;refseq.name_6=NM_001164385;refseq.name_7=NM_014393;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.V198M;refseq.proteinCoordStr_2=p.V166M;refseq.proteinCoordStr_3=p.V94M;refseq.proteinCoordStr_4=p.V26M;refseq.proteinCoordStr_5=p.V166M;refseq.proteinCoordStr_6=p.V160M;refseq.proteinCoordStr_7=p.V166M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.referenceCodon_7=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.spliceDist_5=22;refseq.spliceDist_6=22;refseq.spliceDist_7=22;refseq.start_1=74690550;refseq.start_2=74690550;refseq.start_3=74690550;refseq.start_4=74690550;refseq.start_5=74690550;refseq.start_6=74690550;refseq.start_7=74690550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantAA_6=Met;refseq.variantAA_7=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;refseq.variantCodon_6=ATG;refseq.variantCodon_7=ATG;set=Intersection GT 1/1 chr8 75079638 . A G 322.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=6127.71;QD=42.85;RankSumP=1.00000;SB=-2850.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.166A>G;refseq.codonCoord=56;refseq.end=75079638;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_015364;refseq.name2=LY96;refseq.positionType=CDS;refseq.proteinCoordStr=p.R56G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-37;refseq.start=75079638;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr8 75319808 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1415A>C;refseq.codonCoord=472;refseq.end=75319808;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1455;refseq.name=NM_020647;refseq.name2=JPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H472P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=157;refseq.start=75319808;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 75425353 . G C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=98.19;MQ0=0;OQ=9620.84;QD=45.81;RankSumP=1.00000;SB=-4088.87;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.102G>C;refseq.codonCoord_2=34;refseq.end_1=75426077;refseq.end_2=75425353;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=181;refseq.name2_1=GDAP1;refseq.name2_2=GDAP1;refseq.name_1=NM_001040875;refseq.name_2=NM_018972;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S34S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=-16;refseq.start_1=75425273;refseq.start_2=75425353;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr8 75436696 . T G 199.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.50;MQ0=0;OQ=2618.22;QD=15.58;RankSumP=0.259207;SB=-1030.91;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.303T>G;refseq.codingCoordStr_2=c.507T>G;refseq.codonCoord_1=101;refseq.codonCoord_2=169;refseq.end_1=75436696;refseq.end_2=75436696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=421;refseq.mrnaCoord_2=586;refseq.name2_1=GDAP1;refseq.name2_2=GDAP1;refseq.name_1=NM_001040875;refseq.name_2=NM_018972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S101S;refseq.proteinCoordStr_2=p.S169S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=75436696;refseq.start_2=75436696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr8 78058420 . A G 311.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=3348.84;QD=38.49;RankSumP=1.00000;SB=-1348.53;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.550T>C;refseq.codingCoordStr_2=c.550T>C;refseq.codingCoordStr_3=c.550T>C;refseq.codingCoordStr_4=c.550T>C;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.codonCoord_3=184;refseq.codonCoord_4=184;refseq.end_1=78058420;refseq.end_2=78058420;refseq.end_3=78058420;refseq.end_4=78058420;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=976;refseq.mrnaCoord_3=1014;refseq.mrnaCoord_4=872;refseq.name2_1=PEX2;refseq.name2_2=PEX2;refseq.name2_3=PEX2;refseq.name2_4=PEX2;refseq.name_1=NM_000318;refseq.name_2=NM_001079867;refseq.name_3=NM_001172086;refseq.name_4=NM_001172087;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C184R;refseq.proteinCoordStr_2=p.C184R;refseq.proteinCoordStr_3=p.C184R;refseq.proteinCoordStr_4=p.C184R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=567;refseq.spliceDist_2=567;refseq.spliceDist_3=567;refseq.spliceDist_4=567;refseq.start_1=78058420;refseq.start_2=78058420;refseq.start_3=78058420;refseq.start_4=78058420;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;set=Intersection GT 1/1 chr8 79773265 . A G 248.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=98.86;MQ0=0;OQ=15904.98;QD=41.42;RankSumP=1.00000;SB=-7502.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.666A>G;refseq.codonCoord=222;refseq.end=79773265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_016010;refseq.name2=FAM164A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L222L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-39;refseq.start=79773265;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr8 81139369 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=29.40;MQ=98.84;MQ0=0;OQ=7432.57;QD=15.68;RankSumP=0.455352;SB=-742.56;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.154G>T;refseq.codingCoordStr_2=c.34G>T;refseq.codingCoordStr_3=c.34G>T;refseq.codonCoord_1=52;refseq.codonCoord_2=12;refseq.codonCoord_3=12;refseq.end_1=81139369;refseq.end_2=81139369;refseq.end_3=81139369;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=476;refseq.mrnaCoord_2=192;refseq.mrnaCoord_3=192;refseq.name2_1=TPD52;refseq.name2_2=TPD52;refseq.name2_3=TPD52;refseq.name_1=NM_001025252;refseq.name_2=NM_001025253;refseq.name_3=NM_005079;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D52Y;refseq.proteinCoordStr_2=p.D12Y;refseq.proteinCoordStr_3=p.D12Y;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=81139369;refseq.start_2=81139369;refseq.start_3=81139369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/0 chr8 82519667 . T C 352.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=8.39;MQ=98.77;MQ0=0;OQ=5410.83;QD=20.50;RankSumP=0.223936;SB=-1768.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.186A>G;refseq.codonCoord=62;refseq.end=82519667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_002677;refseq.name2=PMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E62E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-61;refseq.start=82519667;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr8 82753988 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.407A>G;refseq.codingCoordStr_2=c.230A>G;refseq.codingCoordStr_3=c.230A>G;refseq.codonCoord_1=136;refseq.codonCoord_2=77;refseq.codonCoord_3=77;refseq.end_1=82753988;refseq.end_2=82753988;refseq.end_3=82753988;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=357;refseq.mrnaCoord_3=357;refseq.name2_1=IMPA1;refseq.name2_2=IMPA1;refseq.name2_3=IMPA1;refseq.name_1=NM_001144878;refseq.name_2=NM_001144879;refseq.name_3=NM_005536;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E136G;refseq.proteinCoordStr_2=p.E77G;refseq.proteinCoordStr_3=p.E77G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=82753988;refseq.start_2=82753988;refseq.start_3=82753988;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 1/0 chr8 82769337 . A G 275.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=8.60;MQ=97.91;MQ0=2;OQ=8637.84;QD=40.74;RankSumP=1.00000;SB=-3350.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=82769337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_001010893;refseq.name2=SLC10A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N142N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=426;refseq.start=82769337;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 86358947 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.281T>G;refseq.codonCoord=94;refseq.end=86358947;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_198584;refseq.name2=CA13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V94G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=46;refseq.start=86358947;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr8 86539249 . G A 235.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.76;MQ0=0;OQ=2027.28;QD=14.69;RankSumP=0.0265030;SB=-751.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.91G>A;refseq.codonCoord=31;refseq.end=86539249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_005181;refseq.name2=CA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=57;refseq.start=86539249;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr8 86576655 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=2;HaplotypeScore=13.22;MQ=98.95;MQ0=0;OQ=8172.70;QD=18.53;RankSumP=0.436958;SB=-2267.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.562T>C;refseq.codonCoord=188;refseq.end=86576655;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_000067;refseq.name2=CA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L188L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=55;refseq.start=86576655;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr8 87129959 . T C 107.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.70;MQ0=0;OQ=2924.42;QD=12.44;RankSumP=0.271993;SB=-1204.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1006A>G;refseq.codonCoord=336;refseq.end=87129959;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1006;refseq.name=NM_033126;refseq.name2=PSKH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I336V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-153;refseq.start=87129959;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr8 87145636 . C A 264.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.48;MQ0=0;OQ=4647.58;QD=19.61;RankSumP=0.387327;SB=-1567.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.526G>T;refseq.codonCoord=176;refseq.end=87145636;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_033126;refseq.name2=PSKH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A176S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-327;refseq.start=87145636;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr8 87231580 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.763T>G;refseq.codonCoord=255;refseq.end=87231580;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=832;refseq.name=NM_152565;refseq.name2=ATP6V0D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L255V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-54;refseq.start=87231580;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr8 87310963 . G A 269.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=510;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=98.84;MQ0=0;OQ=10692.46;QD=20.97;RankSumP=0.399709;SB=-3633.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.660C>T;refseq.codonCoord=220;refseq.end=87310963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_138817;refseq.name2=SLC7A13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G220G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-26;refseq.start=87310963;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr8 87632446 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr8;refseq.codingCoordStr=c.1068+2;refseq.end=87632446;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_003909;refseq.name2=CPNE3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=87632446;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr8 87657314 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=481;Dels=0.00;HRun=1;HaplotypeScore=13.26;MQ=98.66;MQ0=0;OQ=9669.34;QD=20.10;RankSumP=0.0443168;SB=-3097.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2264A>G;refseq.codonCoord=755;refseq.end=87657314;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2312;refseq.name=NM_019098;refseq.name2=CNGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E755G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=161;refseq.start=87657314;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr8 87657364 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=19.40;MQ=98.76;MQ0=0;OQ=4276.56;QD=18.76;RankSumP=0.407644;SB=-95.97;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2214A>G;refseq.codonCoord=738;refseq.end=87657364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2262;refseq.name=NM_019098;refseq.name2=CNGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E738E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=111;refseq.start=87657364;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr8 87729216 . T C 270.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.73;MQ0=0;OQ=8373.11;QD=22.63;RankSumP=0.378531;SB=-3041.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.919A>G;refseq.codonCoord=307;refseq.end=87729216;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_019098;refseq.name2=CNGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I307V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=16;refseq.start=87729216;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr8 87735367 . T G 219.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=98.87;MQ0=0;OQ=2939.51;QD=15.39;RankSumP=0.355600;SB=-1142.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.892A>C;refseq.codonCoord=298;refseq.end=87735367;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_019098;refseq.name2=CNGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T298P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-12;refseq.start=87735367;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr8 87748419 . A C 272.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=98.89;MQ0=0;OQ=10727.27;QD=39.88;RankSumP=1.00000;SB=-4839.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.702T>G;refseq.codonCoord=234;refseq.end=87748419;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_019098;refseq.name2=CNGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C234W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=59;refseq.start=87748419;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr8 91027598 . T C 167.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.95;MQ0=0;OQ=2433.72;QD=14.32;RankSumP=0.396112;SB=-732.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2016A>G;refseq.codonCoord=672;refseq.end=91027598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2126;refseq.name=NM_002485;refseq.name2=NBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P672P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-55;refseq.start=91027598;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 91036887 . A G 296.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.53;MQ0=0;OQ=2490.79;QD=18.59;RankSumP=0.424808;SB=-745.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1197T>C;refseq.codonCoord=399;refseq.end=91036887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1307;refseq.name=NM_002485;refseq.name2=NBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D399D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=73;refseq.start=91036887;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr8 91059655 . C G 257.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.92;MQ0=0;OQ=5023.93;QD=22.33;RankSumP=0.172038;SB=-1341.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.553G>C;refseq.codonCoord=185;refseq.end=91059655;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_002485;refseq.name2=NBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E185Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-32;refseq.start=91059655;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr8 91064195 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=575;Dels=0.00;HRun=1;HaplotypeScore=3.83;MQ=98.96;MQ0=0;OQ=11597.99;QD=20.17;RankSumP=0.403478;SB=-4623.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.102G>A;refseq.codonCoord=34;refseq.end=91064195;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_002485;refseq.name2=NBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L34L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=65;refseq.start=91064195;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr8 92433276 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=653;Dels=0.00;HRun=0;HaplotypeScore=13.73;MQ=98.77;MQ0=0;OQ=27754.33;QD=42.50;RankSumP=1.00000;SB=-10342.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1203T>C;refseq.codingCoordStr_2=c.1203T>C;refseq.codonCoord_1=401;refseq.codonCoord_2=401;refseq.end_1=92433276;refseq.end_2=92433276;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1442;refseq.name2_1=SLC26A7;refseq.name2_2=SLC26A7;refseq.name_1=NM_052832;refseq.name_2=NM_134266;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L401L;refseq.proteinCoordStr_2=p.L401L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=92433276;refseq.start_2=92433276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr8 93067578 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=143;Dels=0.00;HRun=1;HaplotypeScore=30.54;MQ=97.67;MQ0=0;OQ=52.66;QD=0.37;RankSumP=0.00000;SB=155.56;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_1=c.1148G>C;refseq.codingCoordStr_2=c.1229G>C;refseq.codingCoordStr_3=c.1118G>C;refseq.codingCoordStr_4=c.1118G>C;refseq.codonCoord_1=383;refseq.codonCoord_2=410;refseq.codonCoord_3=373;refseq.codonCoord_4=373;refseq.end_1=93067578;refseq.end_2=93067578;refseq.end_3=93067578;refseq.end_4=93067578;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1559;refseq.mrnaCoord_2=1313;refseq.mrnaCoord_3=1329;refseq.mrnaCoord_4=1458;refseq.name2_1=RUNX1T1;refseq.name2_2=RUNX1T1;refseq.name2_3=RUNX1T1;refseq.name2_4=RUNX1T1;refseq.name_1=NM_004349;refseq.name_2=NM_175634;refseq.name_3=NM_175635;refseq.name_4=NM_175636;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S383T;refseq.proteinCoordStr_2=p.S410T;refseq.proteinCoordStr_3=p.S373T;refseq.proteinCoordStr_4=p.S373T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.start_1=93067578;refseq.start_2=93067578;refseq.start_3=93067578;refseq.start_4=93067578;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chr8 94869337 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.1259A>C;refseq.codingCoordStr_3=c.1502A>C;refseq.codonCoord_2=420;refseq.codonCoord_3=501;refseq.end_1=94869337;refseq.end_2=94869337;refseq.end_3=94869337;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1573;refseq.mrnaCoord_2=1504;refseq.mrnaCoord_3=1573;refseq.name2_1=TMEM67;refseq.name2_2=TMEM67;refseq.name2_3=TMEM67;refseq.name_1=NR_024522;refseq.name_2=NM_001142301;refseq.name_3=NM_153704;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N420T;refseq.proteinCoordStr_3=p.N501T;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=94869337;refseq.start_2=94869337;refseq.start_3=94869337;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr8 94877341 . A G 290.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=490;Dels=0.00;HRun=0;HaplotypeScore=12.67;MQ=98.43;MQ0=0;OQ=10063.07;QD=20.54;RankSumP=0.320977;SB=-3426.01;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.1567A>G;refseq.codingCoordStr_3=c.1810A>G;refseq.codonCoord_2=523;refseq.codonCoord_3=604;refseq.end_1=94877341;refseq.end_2=94877341;refseq.end_3=94877341;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1881;refseq.mrnaCoord_2=1812;refseq.mrnaCoord_3=1881;refseq.name2_1=TMEM67;refseq.name2_2=TMEM67;refseq.name2_3=TMEM67;refseq.name_1=NR_024522;refseq.name_2=NM_001142301;refseq.name_3=NM_153704;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I523V;refseq.proteinCoordStr_3=p.I604V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.start_1=94877341;refseq.start_2=94877341;refseq.start_3=94877341;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr8 95004792 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.1506A>C;refseq.codingCoordStr_2=c.1404A>C;refseq.codingCoordStr_3=c.1404A>C;refseq.codingCoordStr_4=c.1329A>C;refseq.codingCoordStr_5=c.1329A>C;refseq.codonCoord_1=502;refseq.codonCoord_2=468;refseq.codonCoord_3=468;refseq.codonCoord_4=443;refseq.codonCoord_5=443;refseq.end_1=95004792;refseq.end_2=95004792;refseq.end_3=95004792;refseq.end_4=95004792;refseq.end_5=95004792;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1555;refseq.mrnaCoord_2=1680;refseq.mrnaCoord_3=1554;refseq.mrnaCoord_4=1541;refseq.mrnaCoord_5=1598;refseq.name2_1=PDP1;refseq.name2_2=PDP1;refseq.name2_3=PDP1;refseq.name2_4=PDP1;refseq.name2_5=PDP1;refseq.name_1=NM_001161778;refseq.name_2=NM_001161779;refseq.name_3=NM_001161780;refseq.name_4=NM_001161781;refseq.name_5=NM_018444;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q502H;refseq.proteinCoordStr_2=p.Q468H;refseq.proteinCoordStr_3=p.Q468H;refseq.proteinCoordStr_4=p.Q443H;refseq.proteinCoordStr_5=p.Q443H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=1373;refseq.spliceDist_2=1373;refseq.spliceDist_3=1373;refseq.spliceDist_4=1373;refseq.spliceDist_5=1373;refseq.start_1=95004792;refseq.start_2=95004792;refseq.start_3=95004792;refseq.start_4=95004792;refseq.start_5=95004792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=FilteredInAll GT 0/1 chr8 95212362 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=23.68;MQ=98.57;MQ0=0;OQ=9134.72;QD=20.08;RankSumP=0.450925;SB=-3740.61;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2202G>C;refseq.codingCoordStr_2=c.2202G>C;refseq.codonCoord_1=734;refseq.codonCoord_2=734;refseq.end_1=95212362;refseq.end_2=95212362;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2328;refseq.mrnaCoord_2=2327;refseq.name2_1=CDH17;refseq.name2_2=CDH17;refseq.name_1=NM_001144663;refseq.name_2=NM_004063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E734D;refseq.proteinCoordStr_2=p.E734D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=95212362;refseq.start_2=95212362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr8 95227435 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=4;HaplotypeScore=6.19;MQ=99.00;MQ0=0;OQ=3173.37;QD=15.79;RankSumP=0.261428;SB=-1402.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2064C>T;refseq.codingCoordStr_2=c.2064C>T;refseq.codonCoord_1=688;refseq.codonCoord_2=688;refseq.end_1=95227435;refseq.end_2=95227435;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2190;refseq.mrnaCoord_2=2189;refseq.name2_1=CDH17;refseq.name2_2=CDH17;refseq.name_1=NM_001144663;refseq.name_2=NM_004063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F688F;refseq.proteinCoordStr_2=p.F688F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.start_1=95227435;refseq.start_2=95227435;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr8 95230278 . G A 160.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=7.47;MQ=98.33;MQ0=0;OQ=4775.15;QD=19.18;RankSumP=0.442391;SB=-2006.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1797C>T;refseq.codingCoordStr_2=c.1797C>T;refseq.codonCoord_1=599;refseq.codonCoord_2=599;refseq.end_1=95230278;refseq.end_2=95230278;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1923;refseq.mrnaCoord_2=1922;refseq.name2_1=CDH17;refseq.name2_2=CDH17;refseq.name_1=NM_001144663;refseq.name_2=NM_004063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S599S;refseq.proteinCoordStr_2=p.S599S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=95230278;refseq.start_2=95230278;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr8 95255558 . G A 200.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.57;MQ0=0;OQ=3879.93;QD=19.02;RankSumP=0.0789511;SB=-1461.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.531C>T;refseq.codingCoordStr_2=c.531C>T;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=95255558;refseq.end_2=95255558;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=657;refseq.mrnaCoord_2=656;refseq.name2_1=CDH17;refseq.name2_2=CDH17;refseq.name_1=NM_001144663;refseq.name_2=NM_004063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V177V;refseq.proteinCoordStr_2=p.V177V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=95255558;refseq.start_2=95255558;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr8 95258026 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=11.20;MQ=98.71;MQ0=0;OQ=9359.67;QD=28.71;RankSumP=1.00000;SB=-4568.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.343A>G;refseq.codingCoordStr_2=c.343A>G;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=95258026;refseq.end_2=95258026;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=469;refseq.mrnaCoord_2=468;refseq.name2_1=CDH17;refseq.name2_2=CDH17;refseq.name_1=NM_001144663;refseq.name_2=NM_004063;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K115E;refseq.proteinCoordStr_2=p.K115E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=95258026;refseq.start_2=95258026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr8 95481759 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1053C>A;refseq.codonCoord=351;refseq.end=95481759;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_012415;refseq.name2=RAD54B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G351G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=109;refseq.start=95481759;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr8 95488874 . A G 245.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.65;MQ0=0;OQ=6038.06;QD=22.87;RankSumP=0.451632;SB=-2127.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.750T>C;refseq.codonCoord=250;refseq.end=95488874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_012415;refseq.name2=RAD54B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N250N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-32;refseq.start=95488874;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr8 95489005 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.619T>G;refseq.codonCoord=207;refseq.end=95489005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_012415;refseq.name2=RAD54B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C207G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=120;refseq.start=95489005;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr8 95600618 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=4.43767e-09;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2284C>A;refseq.codingCoordStr_2=c.2284C>A;refseq.codonCoord_1=762;refseq.codonCoord_2=762;refseq.end_1=95600618;refseq.end_2=95600618;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2297;refseq.mrnaCoord_2=2297;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q762K;refseq.proteinCoordStr_2=p.Q762K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-230;refseq.spliceDist_2=-230;refseq.start_1=95600618;refseq.start_2=95600618;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 0/1 chr8 95600798 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2104C>A;refseq.codingCoordStr_2=c.2104C>A;refseq.codonCoord_1=702;refseq.codonCoord_2=702;refseq.end_1=95600798;refseq.end_2=95600798;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2117;refseq.mrnaCoord_2=2117;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q702K;refseq.proteinCoordStr_2=p.Q702K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=95600798;refseq.start_2=95600798;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr8 95610478 . A G 306.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=6.26;MQ=98.56;MQ0=0;OQ=3910.07;QD=20.47;RankSumP=0.00249688;SB=-1056.02;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.876T>C;refseq.codingCoordStr_2=c.876T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.end_1=95610478;refseq.end_2=95610478;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=889;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G292G;refseq.proteinCoordStr_2=p.G292G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=95610478;refseq.start_2=95610478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 0/1 chr8 95610547 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.78;MQ0=0;OQ=711.14;QD=12.70;RankSumP=0.586421;SB=-105.86;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.807A>T;refseq.codingCoordStr_2=c.807A>T;refseq.codonCoord_1=269;refseq.codonCoord_2=269;refseq.end_1=95610547;refseq.end_2=95610547;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=820;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R269R;refseq.proteinCoordStr_2=p.R269R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=95610547;refseq.start_2=95610547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr8 95616283 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.444T>C;refseq.codingCoordStr_2=c.444T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=95616283;refseq.end_2=95616283;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=457;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P148P;refseq.proteinCoordStr_2=p.P148P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=95616283;refseq.start_2=95616283;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr8 95616295 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;DB;DP=116;Dels=0.00;HRun=2;HaplotypeScore=43.45;MQ=93.93;MQ0=0;OQ=1156.36;QD=9.97;RankSumP=0.000170178;SB=-599.86;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.432A>C;refseq.codingCoordStr_2=c.432A>C;refseq.codonCoord_1=144;refseq.codonCoord_2=144;refseq.end_1=95616295;refseq.end_2=95616295;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=445;refseq.mrnaCoord_2=445;refseq.name2_1=KIAA1429;refseq.name2_2=KIAA1429;refseq.name_1=NM_015496;refseq.name_2=NM_183009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P144P;refseq.proteinCoordStr_2=p.P144P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=95616295;refseq.start_2=95616295;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 1/0 chr8 95946963 . T C 303.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=7.09;MQ=98.67;MQ0=0;OQ=19035.48;QD=40.94;RankSumP=1.00000;SB=-5958.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2130T>C;refseq.codonCoord=710;refseq.end=95946963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2256;refseq.name=NM_017864;refseq.name2=INTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S710S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=54;refseq.start=95946963;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 95957483 . C T 343.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1172.06;QD=41.86;RankSumP=1.00000;SB=-530.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2694C>T;refseq.codonCoord=898;refseq.end=95957483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2820;refseq.name=NM_017864;refseq.name2=INTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A898A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=95957483;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr8 97683837 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=552;Dels=0.00;HRun=1;HaplotypeScore=5.26;MQ=98.90;MQ0=0;OQ=10626.09;QD=19.25;RankSumP=0.334819;SB=-4304.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.211T>A;refseq.codonCoord=71;refseq.end=97683837;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_002998;refseq.name2=SDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S71T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=39;refseq.start=97683837;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr8 97916534 . G T 266.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=4.76;MQ=98.65;MQ0=0;OQ=5013.86;QD=17.00;RankSumP=0.476303;SB=-1745.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.591G>T;refseq.codonCoord=197;refseq.end=97916534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_016134;refseq.name2=PGCP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-51;refseq.start=97916534;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr8 98726142 . G T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=98.51;MQ0=0;OQ=340.62;QD=14.19;RankSumP=0.0488212;SB=-10.00;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.232G>T;refseq.codonCoord=78;refseq.end=98726142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_178812;refseq.name2=MTDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A78S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-150;refseq.start=98726142;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr8 98772493 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1320.53;QD=15.54;RankSumP=0.120508;SB=-414.93;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.949A>G;refseq.codonCoord=317;refseq.end=98772493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_178812;refseq.name2=MTDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T317A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-100;refseq.start=98772493;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr8 98857170 . A G 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=94.55;MQ0=0;OQ=514.75;QD=27.09;RankSumP=1.00000;SB=-178.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.30A>G;refseq.codonCoord=10;refseq.end=98857170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_018407;refseq.name2=LAPTM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P10P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=186;refseq.start=98857170;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr8 98857209 . G C 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.99;MQ0=0;OQ=210.32;QD=30.05;RankSumP=1.00000;SB=-51.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.69G>C;refseq.codonCoord=23;refseq.end=98857209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_018407;refseq.name2=LAPTM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A23A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=225;refseq.start=98857209;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr8 98857336 . C A 18.72 LowQual AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=90.45;MQ0=0;QD=9.36;SB=-10.00;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.196C>A;refseq.codonCoord=66;refseq.end=98857336;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_018407;refseq.name2=LAPTM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R66R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-177;refseq.start=98857336;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,2:2:-5.28,-0.60,-0.00:6 chr8 98857341 . C A 27.73 PASS AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=93.39;MQ0=0;OQ=57.27;QD=19.09;SB=-10.00;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.201C>A;refseq.codonCoord=67;refseq.end=98857341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_018407;refseq.name2=LAPTM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R67R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-172;refseq.start=98857341;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=gatk GT:AD:DP:GL:GQ 1/1:0,3:3:-9.22,-0.90,-0.00:9.02 chr8 98857437 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=15.21;MQ=97.51;MQ0=0;OQ=1087.27;QD=9.45;RankSumP=0.182753;SB=-150.14;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.297G>T;refseq.codonCoord=99;refseq.end=98857437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_018407;refseq.name2=LAPTM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T99T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-76;refseq.start=98857437;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr8 99274788 . C T 357.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=10.21;MQ=98.61;MQ0=0;OQ=5223.82;QD=18.79;RankSumP=0.453207;SB=-1836.80;SecondBestBaseQ=33;refseq.chr=chr8;refseq.codingCoordStr=c.1067+1;refseq.end=99274788;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_024759;refseq.name2=NIPAL2;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=99274788;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr8 100913934 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=2;HaplotypeScore=4.43;MQ=98.79;MQ0=0;OQ=2472.73;QD=17.41;RankSumP=0.238052;SB=-880.72;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.9567T>C;refseq.codingCoordStr_2=c.9492T>C;refseq.codonCoord_1=3189;refseq.codonCoord_2=3164;refseq.end_1=100913934;refseq.end_2=100913934;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9678;refseq.mrnaCoord_2=9603;refseq.name2_1=VPS13B;refseq.name2_2=VPS13B;refseq.name_1=NM_017890;refseq.name_2=NM_152564;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S3189S;refseq.proteinCoordStr_2=p.S3164S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-123;refseq.spliceDist_2=-123;refseq.start_1=100913934;refseq.start_2=100913934;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr8 101152833 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.534T>C;refseq.codonCoord=178;refseq.end=101152833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_015668;refseq.name2=RGS22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P178P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-61;refseq.start=101152833;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr8 101222200 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=640;Dels=0.00;HRun=1;HaplotypeScore=20.23;MQ=98.75;MQ0=0;OQ=27421.36;QD=42.85;RankSumP=1.00000;SB=-8307.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1458C>T;refseq.codingCoordStr_2=c.1356C>T;refseq.codonCoord_1=486;refseq.codonCoord_2=452;refseq.end_1=101222200;refseq.end_2=101222200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2171;refseq.mrnaCoord_2=2215;refseq.name2_1=FBXO43;refseq.name2_2=FBXO43;refseq.name_1=NM_001029860;refseq.name_2=NM_001077528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I486I;refseq.proteinCoordStr_2=p.I452I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.start_1=101222200;refseq.start_2=101222200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr8 101294735 . C G 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=51.75;QD=25.88;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1338C>G;refseq.codingCoordStr_2=c.1338C>G;refseq.codonCoord_1=446;refseq.codonCoord_2=446;refseq.end_1=101294735;refseq.end_2=101294735;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1529;refseq.mrnaCoord_2=1424;refseq.name2_1=SPAG1;refseq.name2_2=SPAG1;refseq.name_1=NM_003114;refseq.name_2=NM_172218;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A446A;refseq.proteinCoordStr_2=p.A446A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=101294735;refseq.start_2=101294735;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=filterInsoap-gatk GT 1/1 chr8 101321856 . T C 261.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=98.74;MQ0=0;OQ=15815.26;QD=35.94;RankSumP=1.00000;SB=-4982.33;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2330T>C;refseq.codingCoordStr_2=c.2330T>C;refseq.codonCoord_1=777;refseq.codonCoord_2=777;refseq.end_1=101321856;refseq.end_2=101321856;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2521;refseq.mrnaCoord_2=2416;refseq.name2_1=SPAG1;refseq.name2_2=SPAG1;refseq.name_1=NM_003114;refseq.name_2=NM_172218;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M777T;refseq.proteinCoordStr_2=p.M777T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=101321856;refseq.start_2=101321856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr8 101322360 . G A 255.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=10269.48;QD=43.15;RankSumP=1.00000;SB=-4864.59;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2715G>A;refseq.codingCoordStr_2=c.2715G>A;refseq.codonCoord_1=905;refseq.codonCoord_2=905;refseq.end_1=101322360;refseq.end_2=101322360;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2906;refseq.mrnaCoord_2=2801;refseq.name2_1=SPAG1;refseq.name2_2=SPAG1;refseq.name_1=NM_003114;refseq.name_2=NM_172218;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S905S;refseq.proteinCoordStr_2=p.S905S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=101322360;refseq.start_2=101322360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr8 101678095 . T C 137.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=2;HaplotypeScore=7.35;MQ=98.79;MQ0=0;OQ=5176.15;QD=16.97;RankSumP=0.344736;SB=-2063.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.926A>G;refseq.codonCoord=309;refseq.end=101678095;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_152628;refseq.name2=SNX31;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q309R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-53;refseq.start=101678095;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr8 102283138 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.8G>C;refseq.codingCoordStr_2=c.8G>C;refseq.codingCoordStr_3=c.8G>C;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.end_1=102283138;refseq.end_2=102283138;refseq.end_3=102283138;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=221;refseq.mrnaCoord_3=308;refseq.name2_1=ZNF706;refseq.name2_2=ZNF706;refseq.name2_3=ZNF706;refseq.name_1=NM_001042510;refseq.name_2=NM_001042511;refseq.name_3=NM_016096;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R3P;refseq.proteinCoordStr_2=p.R3P;refseq.proteinCoordStr_3=p.R3P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=102283138;refseq.start_2=102283138;refseq.start_3=102283138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=FilteredInAll GT 1/0 chr8 102770770 . G A 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=23;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=96.45;MQ0=0;OQ=276.08;QD=12.00;RankSumP=0.0102900;SB=-39.63;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.525C>T;refseq.codingCoordStr_2=c.525C>T;refseq.codingCoordStr_3=c.525C>T;refseq.codingCoordStr_4=c.525C>T;refseq.codingCoordStr_5=c.525C>T;refseq.codingCoordStr_6=c.525C>T;refseq.codingCoordStr_7=c.525C>T;refseq.codingCoordStr_8=c.525C>T;refseq.codonCoord_1=175;refseq.codonCoord_2=175;refseq.codonCoord_3=175;refseq.codonCoord_4=175;refseq.codonCoord_5=175;refseq.codonCoord_6=175;refseq.codonCoord_7=175;refseq.codonCoord_8=175;refseq.end_1=102770770;refseq.end_2=102770770;refseq.end_3=102770770;refseq.end_4=102770770;refseq.end_5=102770770;refseq.end_6=102770770;refseq.end_7=102770770;refseq.end_8=102770770;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=832;refseq.mrnaCoord_3=832;refseq.mrnaCoord_4=745;refseq.mrnaCoord_5=888;refseq.mrnaCoord_6=801;refseq.mrnaCoord_7=985;refseq.mrnaCoord_8=894;refseq.name2_1=NCALD;refseq.name2_2=NCALD;refseq.name2_3=NCALD;refseq.name2_4=NCALD;refseq.name2_5=NCALD;refseq.name2_6=NCALD;refseq.name2_7=NCALD;refseq.name2_8=NCALD;refseq.name_1=NM_001040624;refseq.name_2=NM_001040625;refseq.name_3=NM_001040626;refseq.name_4=NM_001040627;refseq.name_5=NM_001040628;refseq.name_6=NM_001040629;refseq.name_7=NM_001040630;refseq.name_8=NM_032041;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S175S;refseq.proteinCoordStr_2=p.S175S;refseq.proteinCoordStr_3=p.S175S;refseq.proteinCoordStr_4=p.S175S;refseq.proteinCoordStr_5=p.S175S;refseq.proteinCoordStr_6=p.S175S;refseq.proteinCoordStr_7=p.S175S;refseq.proteinCoordStr_8=p.S175S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.referenceCodon_7=AGC;refseq.referenceCodon_8=AGC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.spliceDist_4=41;refseq.spliceDist_5=41;refseq.spliceDist_6=41;refseq.spliceDist_7=41;refseq.spliceDist_8=41;refseq.start_1=102770770;refseq.start_2=102770770;refseq.start_3=102770770;refseq.start_4=102770770;refseq.start_5=102770770;refseq.start_6=102770770;refseq.start_7=102770770;refseq.start_8=102770770;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;refseq.variantCodon_7=AGT;refseq.variantCodon_8=AGT;set=Intersection GT 1/0 chr8 103367803 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5176G>C;refseq.codonCoord=1726;refseq.end=103367803;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5209;refseq.name=NM_015902;refseq.name2=UBR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1726P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-40;refseq.start=103367803;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 103376833 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3916A>C;refseq.codonCoord=1306;refseq.end=103376833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3949;refseq.name=NM_015902;refseq.name2=UBR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1306P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-16;refseq.start=103376833;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 103642168 . C G 189.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=97.42;MQ0=0;OQ=2328.91;QD=18.48;RankSumP=0.201580;SB=-651.22;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.633C>G;refseq.codonCoord=211;refseq.end=103642168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_024410;refseq.name2=ODF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P211P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-254;refseq.start=103642168;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 103642177 . C G 182.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=97.67;MQ0=0;OQ=2758.40;QD=18.64;RankSumP=0.448710;SB=-688.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.642C>G;refseq.codonCoord=214;refseq.end=103642177;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_024410;refseq.name2=ODF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P214P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-245;refseq.start=103642177;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 103642182 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=154;Dels=0.01;HRun=1;HaplotypeScore=9.20;MQ=97.69;MQ0=0;OQ=2827.88;QD=18.36;RankSumP=0.131670;SB=-398.46;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.647G>A;refseq.codonCoord=216;refseq.end=103642182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_024410;refseq.name2=ODF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S216N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-240;refseq.start=103642182;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr8 103920228 . T C 179.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=8.66;MQ=98.61;MQ0=0;OQ=4077.08;QD=20.91;RankSumP=0.143965;SB=-1477.42;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.369A>G;refseq.codingCoordStr_2=c.369A>G;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.end_1=103920228;refseq.end_2=103920228;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1111;refseq.mrnaCoord_2=965;refseq.name2_1=AZIN1;refseq.name2_2=AZIN1;refseq.name_1=NM_015878;refseq.name_2=NM_148174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A123A;refseq.proteinCoordStr_2=p.A123A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=103920228;refseq.start_2=103920228;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr8 104147734 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.936G>T;refseq.codonCoord=312;refseq.end=104147734;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_001695;refseq.name2=ATP6V1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L312F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=104147734;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr8 104381517 . A G 273.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=7.92;MQ=98.87;MQ0=0;OQ=2224.46;QD=17.24;RankSumP=0.312839;SB=-641.96;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.6A>G;refseq.codingCoordStr_3=c.6A>G;refseq.codonCoord_2=2;refseq.codonCoord_3=2;refseq.end_1=104381593;refseq.end_2=104381517;refseq.end_3=104381517;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=296;refseq.mrnaCoord_3=323;refseq.name2_1=FZD6;refseq.name2_2=FZD6;refseq.name2_3=FZD6;refseq.name_1=NM_001164616;refseq.name_2=NM_001164615;refseq.name_3=NM_003506;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E2E;refseq.proteinCoordStr_3=p.E2E;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_2=158;refseq.spliceDist_3=158;refseq.start_1=104381499;refseq.start_2=104381517;refseq.start_3=104381517;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr8 104381608 . A G 220.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=525;Dels=0.00;HRun=0;HaplotypeScore=19.06;MQ=98.87;MQ0=0;OQ=10148.99;QD=19.33;RankSumP=0.252002;SB=-2676.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.97A>G;refseq.codingCoordStr_2=c.1A>G;refseq.codingCoordStr_3=c.97A>G;refseq.codonCoord_1=33;refseq.codonCoord_2=1;refseq.codonCoord_3=33;refseq.end_1=104381608;refseq.end_2=104381608;refseq.end_3=104381608;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=387;refseq.mrnaCoord_2=299;refseq.mrnaCoord_3=414;refseq.name2_1=FZD6;refseq.name2_2=FZD6;refseq.name2_3=FZD6;refseq.name_1=NM_001164615;refseq.name_2=NM_001164616;refseq.name_3=NM_003506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M33V;refseq.proteinCoordStr_2=p.M1V;refseq.proteinCoordStr_3=p.M33V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-81;refseq.spliceDist_2=5;refseq.spliceDist_3=-81;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=104381608;refseq.start_2=104381608;refseq.start_3=104381608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 0/1 chr8 104406272 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=2;HaplotypeScore=1.99;MQ=98.85;MQ0=0;OQ=2108.05;QD=12.78;RankSumP=0.321728;SB=-725.40;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.762A>G;refseq.codingCoordStr_2=c.666A>G;refseq.codingCoordStr_3=c.762A>G;refseq.codonCoord_1=254;refseq.codonCoord_2=222;refseq.codonCoord_3=254;refseq.end_1=104406272;refseq.end_2=104406272;refseq.end_3=104406272;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1052;refseq.mrnaCoord_2=964;refseq.mrnaCoord_3=1079;refseq.name2_1=FZD6;refseq.name2_2=FZD6;refseq.name2_3=FZD6;refseq.name_1=NM_001164615;refseq.name_2=NM_001164616;refseq.name_3=NM_003506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L254L;refseq.proteinCoordStr_2=p.L222L;refseq.proteinCoordStr_3=p.L254L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=388;refseq.spliceDist_2=388;refseq.spliceDist_3=388;refseq.start_1=104406272;refseq.start_2=104406272;refseq.start_3=104406272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr8 104406543 . A C 288.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=687;Dels=0.00;HRun=0;HaplotypeScore=6.22;MQ=98.81;MQ0=0;OQ=13623.67;QD=19.83;RankSumP=0.0205956;SB=-3350.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1033A>C;refseq.codingCoordStr_2=c.937A>C;refseq.codingCoordStr_3=c.1033A>C;refseq.codonCoord_1=345;refseq.codonCoord_2=313;refseq.codonCoord_3=345;refseq.end_1=104406543;refseq.end_2=104406543;refseq.end_3=104406543;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1323;refseq.mrnaCoord_2=1235;refseq.mrnaCoord_3=1350;refseq.name2_1=FZD6;refseq.name2_2=FZD6;refseq.name2_3=FZD6;refseq.name_1=NM_001164615;refseq.name_2=NM_001164616;refseq.name_3=NM_003506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M345L;refseq.proteinCoordStr_2=p.M313L;refseq.proteinCoordStr_3=p.M345L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-360;refseq.spliceDist_2=-360;refseq.spliceDist_3=-360;refseq.start_1=104406543;refseq.start_2=104406543;refseq.start_3=104406543;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr8 104412862 . G A 166.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1523.74;QD=19.54;RankSumP=0.310481;SB=-187.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.2070G>A;refseq.codingCoordStr_2=c.1974G>A;refseq.codingCoordStr_3=c.2070G>A;refseq.codonCoord_1=690;refseq.codonCoord_2=658;refseq.codonCoord_3=690;refseq.end_1=104412862;refseq.end_2=104412862;refseq.end_3=104412862;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2360;refseq.mrnaCoord_2=2272;refseq.mrnaCoord_3=2387;refseq.name2_1=FZD6;refseq.name2_2=FZD6;refseq.name2_3=FZD6;refseq.name_1=NM_001164615;refseq.name_2=NM_001164616;refseq.name_3=NM_003506;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P690P;refseq.proteinCoordStr_2=p.P658P;refseq.proteinCoordStr_3=p.P690P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.spliceDist_3=118;refseq.start_1=104412862;refseq.start_2=104412862;refseq.start_3=104412862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/0 chr8 104463920 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=613;Dels=0.00;HRun=0;HaplotypeScore=27.27;MQ=98.86;MQ0=0;OQ=22138.35;QD=36.11;RankSumP=1.00000;SB=-5488.79;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.648T>C;refseq.codonCoord=216;refseq.end=104463920;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_138455;refseq.name2=CTHRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G216G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=59;refseq.start=104463920;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr8 104496535 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=493.24;QD=18.27;RankSumP=0.570724;SB=-111.94;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.141A>C;refseq.codingCoordStr_2=c.-194T>G;refseq.codonCoord_1=47;refseq.end_1=104496535;refseq.end_2=104496535;refseq.frame_1=2;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=418;refseq.mrnaCoord_2=110;refseq.name2_1=DCAF13;refseq.name2_2=SLC25A32;refseq.name_1=NM_015420;refseq.name_2=NM_030780;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.R47S;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=AGA;refseq.spliceDist_1=-386;refseq.spliceDist_2=110;refseq.start_1=104496535;refseq.start_2=104496535;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantCodon_1=AGC;set=Intersection GT 0/1 chr8 105333155 . C T 246.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.89;MQ0=0;OQ=2964.38;QD=15.68;RankSumP=0.156317;SB=-1215.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.3981C>T;refseq.codingCoordStr_2=c.3423C>T;refseq.codonCoord_1=1327;refseq.codonCoord_2=1141;refseq.end_1=105333155;refseq.end_2=105333155;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4120;refseq.mrnaCoord_2=3743;refseq.name2_1=RIMS2;refseq.name2_2=RIMS2;refseq.name_1=NM_001100117;refseq.name_2=NM_014677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1327A;refseq.proteinCoordStr_2=p.A1141A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=150;refseq.spliceDist_2=150;refseq.start_1=105333155;refseq.start_2=105333155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr8 107823649 . G A 224.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.19;MQ0=0;OQ=6620.90;QD=22.00;RankSumP=0.335891;SB=-2094.59;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2259G>A;refseq.codingCoordStr_2=c.2238G>A;refseq.codonCoord_1=753;refseq.codonCoord_2=746;refseq.end_1=107823649;refseq.end_2=107823649;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2520;refseq.mrnaCoord_2=2417;refseq.name2_1=OXR1;refseq.name2_2=OXR1;refseq.name_1=NM_018002;refseq.name_2=NM_181354;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E753E;refseq.proteinCoordStr_2=p.E746E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=107823649;refseq.start_2=107823649;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr8 107851511 . G A 117.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=2.74;MQ=98.83;MQ0=0;OQ=4534.85;QD=22.01;RankSumP=0.250666;SB=-1800.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.84C>T;refseq.codonCoord=28;refseq.end=107851511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_139166;refseq.name2=ABRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S28S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=138;refseq.start=107851511;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr8 107851571 . G A 214.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=99.00;MQ0=0;OQ=2704.98;QD=14.31;RankSumP=0.248268;SB=-884.79;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.24C>T;refseq.codonCoord=8;refseq.end=107851571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_139166;refseq.name2=ABRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S8S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=78;refseq.start=107851571;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr8 108366216 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1075A>G;refseq.codonCoord=359;refseq.end=108366216;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_001146;refseq.name2=ANGPT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N359D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=37;refseq.start=108366216;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr8 109039543 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=849;Dels=0.00;HRun=1;HaplotypeScore=23.31;MQ=97.67;MQ0=0;OQ=15987.30;QD=18.83;RankSumP=0.256617;SB=-4564.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.557T>C;refseq.codonCoord=186;refseq.end=109039543;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_178565;refseq.name2=RSPO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L186P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-60;refseq.start=109039543;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr8 109866404 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.100G>C;refseq.codonCoord=34;refseq.end=109866404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_153015;refseq.name2=TMEM74;refseq.positionType=CDS;refseq.proteinCoordStr=p.A34P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=139;refseq.start=109866404;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 110371174 . T C 194.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=98.60;MQ0=0;OQ=1927.10;QD=15.06;RankSumP=0.347875;SB=-431.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.718A>G;refseq.codingCoordStr_2=c.805A>G;refseq.codonCoord_1=240;refseq.codonCoord_2=269;refseq.end_1=110371174;refseq.end_2=110371174;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=816;refseq.mrnaCoord_2=916;refseq.name2_1=NUDCD1;refseq.name2_2=NUDCD1;refseq.name_1=NM_001128211;refseq.name_2=NM_032869;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I240V;refseq.proteinCoordStr_2=p.I269V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=110371174;refseq.start_2=110371174;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr8 110371223 . T G 307.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=98.66;MQ0=0;OQ=4236.09;QD=20.87;RankSumP=0.438841;SB=-1586.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.669A>C;refseq.codingCoordStr_2=c.756A>C;refseq.codonCoord_1=223;refseq.codonCoord_2=252;refseq.end_1=110371223;refseq.end_2=110371223;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=767;refseq.mrnaCoord_2=867;refseq.name2_1=NUDCD1;refseq.name2_2=NUDCD1;refseq.name_1=NM_001128211;refseq.name_2=NM_032869;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L223F;refseq.proteinCoordStr_2=p.L252F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=110371223;refseq.start_2=110371223;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr8 110656456 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_15=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr8;refseq.chr_10=chr8;refseq.chr_11=chr8;refseq.chr_12=chr8;refseq.chr_13=chr8;refseq.chr_14=chr8;refseq.chr_15=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.chr_9=chr8;refseq.codingCoordStr_1=c.1844C>G;refseq.codingCoordStr_10=c.1847C>G;refseq.codingCoordStr_11=c.1844C>G;refseq.codingCoordStr_12=c.1847C>G;refseq.codingCoordStr_13=c.1490C>G;refseq.codingCoordStr_14=c.1838C>G;refseq.codingCoordStr_15=c.1844C>G;refseq.codingCoordStr_2=c.1847C>G;refseq.codingCoordStr_3=c.1847C>G;refseq.codingCoordStr_4=c.1490C>G;refseq.codingCoordStr_5=c.1844C>G;refseq.codingCoordStr_6=c.1847C>G;refseq.codingCoordStr_7=c.1490C>G;refseq.codingCoordStr_8=c.1847C>G;refseq.codingCoordStr_9=c.1844C>G;refseq.codonCoord_1=615;refseq.codonCoord_10=616;refseq.codonCoord_11=615;refseq.codonCoord_12=616;refseq.codonCoord_13=497;refseq.codonCoord_14=613;refseq.codonCoord_15=615;refseq.codonCoord_2=616;refseq.codonCoord_3=616;refseq.codonCoord_4=497;refseq.codonCoord_5=615;refseq.codonCoord_6=616;refseq.codonCoord_7=497;refseq.codonCoord_8=616;refseq.codonCoord_9=615;refseq.end_1=110656456;refseq.end_10=110656456;refseq.end_11=110656456;refseq.end_12=110656456;refseq.end_13=110656456;refseq.end_14=110656456;refseq.end_15=110656456;refseq.end_2=110656456;refseq.end_3=110656456;refseq.end_4=110656456;refseq.end_5=110656456;refseq.end_6=110656456;refseq.end_7=110656456;refseq.end_8=110656456;refseq.end_9=110656456;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_14=1;refseq.frame_15=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_15=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_15=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_13=G;refseq.haplotypeReference_14=G;refseq.haplotypeReference_15=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=2360;refseq.mrnaCoord_10=2209;refseq.mrnaCoord_11=2007;refseq.mrnaCoord_12=2010;refseq.mrnaCoord_13=1805;refseq.mrnaCoord_14=2081;refseq.mrnaCoord_15=2238;refseq.mrnaCoord_2=2363;refseq.mrnaCoord_3=2199;refseq.mrnaCoord_4=1913;refseq.mrnaCoord_5=2117;refseq.mrnaCoord_6=2120;refseq.mrnaCoord_7=1834;refseq.mrnaCoord_8=2241;refseq.mrnaCoord_9=2206;refseq.name2_1=GOLSYN;refseq.name2_10=GOLSYN;refseq.name2_11=GOLSYN;refseq.name2_12=GOLSYN;refseq.name2_13=GOLSYN;refseq.name2_14=GOLSYN;refseq.name2_15=GOLSYN;refseq.name2_2=GOLSYN;refseq.name2_3=GOLSYN;refseq.name2_4=GOLSYN;refseq.name2_5=GOLSYN;refseq.name2_6=GOLSYN;refseq.name2_7=GOLSYN;refseq.name2_8=GOLSYN;refseq.name2_9=GOLSYN;refseq.name_1=NM_001099743;refseq.name_10=NM_001099752;refseq.name_11=NM_001099753;refseq.name_12=NM_001099754;refseq.name_13=NM_001099755;refseq.name_14=NM_001099756;refseq.name_15=NM_017786;refseq.name_2=NM_001099744;refseq.name_3=NM_001099745;refseq.name_4=NM_001099746;refseq.name_5=NM_001099747;refseq.name_6=NM_001099748;refseq.name_7=NM_001099749;refseq.name_8=NM_001099750;refseq.name_9=NM_001099751;refseq.numMatchingRecords=15;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.A615G;refseq.proteinCoordStr_10=p.A616G;refseq.proteinCoordStr_11=p.A615G;refseq.proteinCoordStr_12=p.A616G;refseq.proteinCoordStr_13=p.A497G;refseq.proteinCoordStr_14=p.A613G;refseq.proteinCoordStr_15=p.A615G;refseq.proteinCoordStr_2=p.A616G;refseq.proteinCoordStr_3=p.A616G;refseq.proteinCoordStr_4=p.A497G;refseq.proteinCoordStr_5=p.A615G;refseq.proteinCoordStr_6=p.A616G;refseq.proteinCoordStr_7=p.A497G;refseq.proteinCoordStr_8=p.A616G;refseq.proteinCoordStr_9=p.A615G;refseq.referenceAA_1=Ala;refseq.referenceAA_10=Ala;refseq.referenceAA_11=Ala;refseq.referenceAA_12=Ala;refseq.referenceAA_13=Ala;refseq.referenceAA_14=Ala;refseq.referenceAA_15=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_10=GCC;refseq.referenceCodon_11=GCC;refseq.referenceCodon_12=GCC;refseq.referenceCodon_13=GCC;refseq.referenceCodon_14=GCC;refseq.referenceCodon_15=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.referenceCodon_8=GCC;refseq.referenceCodon_9=GCC;refseq.spliceDist_1=-876;refseq.spliceDist_10=-876;refseq.spliceDist_11=-876;refseq.spliceDist_12=-876;refseq.spliceDist_13=-876;refseq.spliceDist_14=-876;refseq.spliceDist_15=-876;refseq.spliceDist_2=-876;refseq.spliceDist_3=-876;refseq.spliceDist_4=-876;refseq.spliceDist_5=-876;refseq.spliceDist_6=-876;refseq.spliceDist_7=-876;refseq.spliceDist_8=-876;refseq.spliceDist_9=-876;refseq.start_1=110656456;refseq.start_10=110656456;refseq.start_11=110656456;refseq.start_12=110656456;refseq.start_13=110656456;refseq.start_14=110656456;refseq.start_15=110656456;refseq.start_2=110656456;refseq.start_3=110656456;refseq.start_4=110656456;refseq.start_5=110656456;refseq.start_6=110656456;refseq.start_7=110656456;refseq.start_8=110656456;refseq.start_9=110656456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Gly;refseq.variantAA_10=Gly;refseq.variantAA_11=Gly;refseq.variantAA_12=Gly;refseq.variantAA_13=Gly;refseq.variantAA_14=Gly;refseq.variantAA_15=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_10=GGC;refseq.variantCodon_11=GGC;refseq.variantCodon_12=GGC;refseq.variantCodon_13=GGC;refseq.variantCodon_14=GGC;refseq.variantCodon_15=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;refseq.variantCodon_7=GGC;refseq.variantCodon_8=GGC;refseq.variantCodon_9=GGC;set=FilteredInAll GT 0/1 chr8 113310264 . T G 436.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=5709.02;QD=41.07;RankSumP=1.00000;SB=-1723.24;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.10354A>C;refseq.codingCoordStr_2=c.10861A>C;refseq.codingCoordStr_3=c.10741A>C;refseq.codonCoord_1=3452;refseq.codonCoord_2=3621;refseq.codonCoord_3=3581;refseq.end_1=113310264;refseq.end_2=113310264;refseq.end_3=113310264;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=10513;refseq.mrnaCoord_2=11020;refseq.mrnaCoord_3=10912;refseq.name2_1=CSMD3;refseq.name2_2=CSMD3;refseq.name2_3=CSMD3;refseq.name_1=NM_052900;refseq.name_2=NM_198123;refseq.name_3=NM_198124;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N3452H;refseq.proteinCoordStr_2=p.N3621H;refseq.proteinCoordStr_3=p.N3581H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=113310264;refseq.start_2=113310264;refseq.start_3=113310264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr8 113346881 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=564;Dels=0.00;HRun=1;HaplotypeScore=17.30;MQ=98.74;MQ0=0;OQ=11016.07;QD=19.53;RankSumP=0.477181;SB=-4523.57;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.9116A>T;refseq.codingCoordStr_2=c.9623A>T;refseq.codingCoordStr_3=c.9503A>T;refseq.codonCoord_1=3039;refseq.codonCoord_2=3208;refseq.codonCoord_3=3168;refseq.end_1=113346881;refseq.end_2=113346881;refseq.end_3=113346881;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9275;refseq.mrnaCoord_2=9782;refseq.mrnaCoord_3=9674;refseq.name2_1=CSMD3;refseq.name2_2=CSMD3;refseq.name2_3=CSMD3;refseq.name_1=NM_052900;refseq.name_2=NM_198123;refseq.name_3=NM_198124;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N3039I;refseq.proteinCoordStr_2=p.N3208I;refseq.proteinCoordStr_3=p.N3168I;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.start_1=113346881;refseq.start_2=113346881;refseq.start_3=113346881;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr8 113346970 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.9027A>C;refseq.codingCoordStr_2=c.9534A>C;refseq.codingCoordStr_3=c.9414A>C;refseq.codonCoord_1=3009;refseq.codonCoord_2=3178;refseq.codonCoord_3=3138;refseq.end_1=113346970;refseq.end_2=113346970;refseq.end_3=113346970;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=9186;refseq.mrnaCoord_2=9693;refseq.mrnaCoord_3=9585;refseq.name2_1=CSMD3;refseq.name2_2=CSMD3;refseq.name2_3=CSMD3;refseq.name_1=NM_052900;refseq.name_2=NM_198123;refseq.name_3=NM_198124;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I3009I;refseq.proteinCoordStr_2=p.I3178I;refseq.proteinCoordStr_3=p.I3138I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=113346970;refseq.start_2=113346970;refseq.start_3=113346970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=FilteredInAll GT 1/0 chr8 113433872 . A G 290.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=98.86;MQ0=0;OQ=4390.18;QD=21.52;RankSumP=0.401353;SB=-1409.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.5892T>C;refseq.codingCoordStr_2=c.6204T>C;refseq.codingCoordStr_3=c.6084T>C;refseq.codonCoord_1=1964;refseq.codonCoord_2=2068;refseq.codonCoord_3=2028;refseq.end_1=113433872;refseq.end_2=113433872;refseq.end_3=113433872;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6051;refseq.mrnaCoord_2=6363;refseq.mrnaCoord_3=6255;refseq.name2_1=CSMD3;refseq.name2_2=CSMD3;refseq.name2_3=CSMD3;refseq.name_1=NM_052900;refseq.name_2=NM_198123;refseq.name_3=NM_198124;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y1964Y;refseq.proteinCoordStr_2=p.Y2068Y;refseq.proteinCoordStr_3=p.Y2028Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=113433872;refseq.start_2=113433872;refseq.start_3=113433872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chr8 117848090 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.67C>G;refseq.codonCoord=23;refseq.end=117848090;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_032334;refseq.name2=UTP23;refseq.positionType=CDS;refseq.proteinCoordStr=p.R23G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-122;refseq.start=117848090;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr8 117848092 . C G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=4.76995e-07;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.69C>G;refseq.codonCoord=23;refseq.end=117848092;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_032334;refseq.name2=UTP23;refseq.positionType=CDS;refseq.proteinCoordStr=p.R23R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-120;refseq.start=117848092;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr8 117853095 . A C 186.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=1104.32;QD=14.92;RankSumP=0.221799;SB=-341.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.583A>C;refseq.codonCoord=195;refseq.end=117853095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_032334;refseq.name2=UTP23;refseq.positionType=CDS;refseq.proteinCoordStr=p.K195Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=220;refseq.start=117853095;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr8 117853156 . C T 179.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=809.68;QD=15.88;RankSumP=0.320353;SB=-408.11;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.644C>T;refseq.codonCoord=215;refseq.end=117853156;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_032334;refseq.name2=UTP23;refseq.positionType=CDS;refseq.proteinCoordStr=p.P215L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=281;refseq.start=117853156;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr8 118019949 . G C 18.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=59.30;QD=29.65;RankSumP=1.00000;SB=-54.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.286G>C;refseq.codonCoord=96;refseq.end=118019949;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_001025357;refseq.name2=C8orf85;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-39;refseq.start=118019949;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chr8 118888759 . C T 202.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=4.69;MQ=98.88;MQ0=0;OQ=2913.97;QD=14.28;RankSumP=0.191910;SB=-1323.81;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1761G>A;refseq.codonCoord=587;refseq.end=118888759;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2534;refseq.name=NM_000127;refseq.name2=EXT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E587E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=39;refseq.start=118888759;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr8 118901201 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=99.00;MQ0=0;OQ=835.37;QD=15.19;RankSumP=0.348825;SB=-302.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1431C>T;refseq.codonCoord=477;refseq.end=118901201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2204;refseq.name=NM_000127;refseq.name2=EXT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P477P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=14;refseq.start=118901201;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr8 119460972 . T C 261.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.77;MQ0=0;OQ=5059.65;QD=21.72;RankSumP=0.0805136;SB=-2095.50;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.463+8;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_2=157;refseq.end_1=119460972;refseq.end_2=119460972;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=600;refseq.name2_1=SAMD12;refseq.name2_2=SAMD12;refseq.name_1=NM_001101676;refseq.name_2=NM_207506;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L157L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=8;refseq.spliceDist_2=149;refseq.spliceInfo_1=splice-donor_8;refseq.start_1=119460972;refseq.start_2=119460972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr8 119461047 . G A 335.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=98.68;MQ0=0;OQ=4489.73;QD=21.08;RankSumP=0.208163;SB=-1775.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.396C>T;refseq.codingCoordStr_2=c.396C>T;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.end_1=119461047;refseq.end_2=119461047;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=525;refseq.mrnaCoord_2=525;refseq.name2_1=SAMD12;refseq.name2_2=SAMD12;refseq.name_1=NM_001101676;refseq.name_2=NM_207506;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H132H;refseq.proteinCoordStr_2=p.H132H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-68;refseq.spliceDist_2=74;refseq.start_1=119461047;refseq.start_2=119461047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr8 120033233 . G C 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=97.24;MQ0=0;OQ=709.86;QD=24.48;RankSumP=0.725341;SB=-240.71;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.9C>G;refseq.codonCoord=3;refseq.end=120033233;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_002546;refseq.name2=TNFRSF11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-22;refseq.start=120033233;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr8 120498205 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.67;MQ0=0;OQ=72.87;QD=7.29;RankSumP=0.452381;SB=-33.62;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.125G>A;refseq.codonCoord=42;refseq.end=120498205;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_002514;refseq.name2=NOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.R42Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=41;refseq.start=120498205;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr8 120504323 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=205;Dels=0.00;HRun=2;HaplotypeScore=89.31;MQ=97.73;MQ0=0;OQ=54.86;QD=0.27;RankSumP=0.00000;SB=306.01;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.844A>C;refseq.codonCoord=282;refseq.end=120504323;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_002514;refseq.name2=NOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.T282P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=67;refseq.start=120504323;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr8 120639058 . T G 291.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=98.70;MQ0=0;OQ=4249.32;QD=16.86;RankSumP=0.390022;SB=-807.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.2476A>C;refseq.codingCoordStr_2=c.2551A>C;refseq.codingCoordStr_3=c.2632A>C;refseq.codonCoord_1=826;refseq.codonCoord_2=851;refseq.codonCoord_3=878;refseq.end_1=120639058;refseq.end_2=120639058;refseq.end_3=120639058;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2562;refseq.mrnaCoord_2=2637;refseq.mrnaCoord_3=2718;refseq.name2_1=ENPP2;refseq.name2_2=ENPP2;refseq.name2_3=ENPP2;refseq.name_1=NM_001040092;refseq.name_2=NM_001130863;refseq.name_3=NM_006209;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R826R;refseq.proteinCoordStr_2=p.R851R;refseq.proteinCoordStr_3=p.R878R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=120639058;refseq.start_2=120639058;refseq.start_3=120639058;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/0 chr8 120663983 . A G 282.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.84;MQ0=0;OQ=2971.59;QD=15.48;RankSumP=0.441775;SB=-1042.98;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1584T>C;refseq.codingCoordStr_2=c.1584T>C;refseq.codingCoordStr_3=c.1740T>C;refseq.codonCoord_1=528;refseq.codonCoord_2=528;refseq.codonCoord_3=580;refseq.end_1=120663983;refseq.end_2=120663983;refseq.end_3=120663983;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1670;refseq.mrnaCoord_2=1670;refseq.mrnaCoord_3=1826;refseq.name2_1=ENPP2;refseq.name2_2=ENPP2;refseq.name2_3=ENPP2;refseq.name_1=NM_001040092;refseq.name_2=NM_001130863;refseq.name_3=NM_006209;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H528H;refseq.proteinCoordStr_2=p.H528H;refseq.proteinCoordStr_3=p.H580H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.start_1=120663983;refseq.start_2=120663983;refseq.start_3=120663983;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 0/1 chr8 120665204 . A G 359.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=2.60;MQ=98.98;MQ0=0;OQ=10153.85;QD=40.62;RankSumP=1.00000;SB=-3192.14;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.1477T>C;refseq.codingCoordStr_2=c.1477T>C;refseq.codingCoordStr_3=c.1633T>C;refseq.codonCoord_1=493;refseq.codonCoord_2=493;refseq.codonCoord_3=545;refseq.end_1=120665204;refseq.end_2=120665204;refseq.end_3=120665204;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1563;refseq.mrnaCoord_2=1563;refseq.mrnaCoord_3=1719;refseq.name2_1=ENPP2;refseq.name2_2=ENPP2;refseq.name2_3=ENPP2;refseq.name_1=NM_001040092;refseq.name_2=NM_001130863;refseq.name_3=NM_006209;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S493P;refseq.proteinCoordStr_2=p.S493P;refseq.proteinCoordStr_3=p.S545P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=120665204;refseq.start_2=120665204;refseq.start_3=120665204;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr8 120859485 . T C 289.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.89;MQ0=0;OQ=3517.15;QD=37.02;RankSumP=1.00000;SB=-1491.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2319A>G;refseq.codonCoord=773;refseq.end=120859485;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2589;refseq.name=NM_003184;refseq.name2=TAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T773T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=120859485;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr8 120862477 . C T 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1055.71;QD=42.23;RankSumP=1.00000;SB=-278.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2250G>A;refseq.codonCoord=750;refseq.end=120862477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2520;refseq.name=NM_003184;refseq.name2=TAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q750Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=120862477;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr8 120872818 . C G 255.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=9016.58;QD=47.71;RankSumP=1.00000;SB=-3125.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1340G>C;refseq.codonCoord=447;refseq.end=120872818;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_003184;refseq.name2=TAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S447T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=63;refseq.start=120872818;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr8 120872835 . C T 206.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.79;MQ0=0;OQ=6358.52;QD=41.29;RankSumP=1.00000;SB=-1641.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1323G>A;refseq.codonCoord=441;refseq.end=120872835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1593;refseq.name=NM_003184;refseq.name2=TAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L441L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=46;refseq.start=120872835;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr8 120913963 . G A 320.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=98.41;MQ0=0;OQ=9550.54;QD=41.17;RankSumP=1.00000;SB=-4733.02;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.23C>T;refseq.codonCoord=8;refseq.end=120913963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_003184;refseq.name2=TAF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P8L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-61;refseq.start=120913963;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr8 120916369 . T C 298.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=98.95;MQ0=0;OQ=11007.52;QD=39.03;RankSumP=1.00000;SB=-5037.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1127A>G;refseq.codonCoord=376;refseq.end=120916369;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1262;refseq.name=NM_024094;refseq.name2=DSCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H376R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=54;refseq.start=120916369;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr8 121009833 . C T 381.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.85;MQ0=0;OQ=10979.27;QD=42.23;RankSumP=1.00000;SB=-3847.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.135C>T;refseq.codonCoord=45;refseq.end=121009833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_022783;refseq.name2=DEPDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H45H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=13;refseq.start=121009833;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr8 121046751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.524T>G;refseq.codonCoord=175;refseq.end=121046751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_022783;refseq.name2=DEPDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V175G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-81;refseq.start=121046751;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr8 121082951 . A G 379.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.70;MQ0=0;OQ=4880.08;QD=35.11;RankSumP=1.00000;SB=-1850.23;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.611A>G;refseq.codonCoord=204;refseq.end=121082951;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_022783;refseq.name2=DEPDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N204S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=121082951;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 121131060 . G A 111.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=10.77;MQ=98.84;MQ0=0;OQ=5888.63;QD=22.91;RankSumP=0.478584;SB=-1957.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1166G>A;refseq.codonCoord=389;refseq.end=121131060;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1353;refseq.name=NM_022783;refseq.name2=DEPDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S389N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=65;refseq.start=121131060;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr8 121279250 . T C 310.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=98.80;MQ0=0;OQ=5179.93;QD=16.50;RankSumP=0.315758;SB=-1959.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.612T>C;refseq.codonCoord=204;refseq.end=121279250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_021110;refseq.name2=COL14A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G204G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=20;refseq.start=121279250;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr8 121285172 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1787.13;QD=15.27;RankSumP=0.259984;SB=-248.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.921T>C;refseq.codonCoord=307;refseq.end=121285172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1186;refseq.name=NM_021110;refseq.name2=COL14A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S307S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=44;refseq.start=121285172;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr8 121297860 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=98.91;MQ0=0;OQ=9301.01;QD=22.63;RankSumP=0.214585;SB=-3925.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1687A>C;refseq.codonCoord=563;refseq.end=121297860;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1952;refseq.name=NM_021110;refseq.name2=COL14A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N563H;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-51;refseq.start=121297860;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr8 121336729 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2822T>G;refseq.codonCoord=941;refseq.end=121336729;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3087;refseq.name=NM_021110;refseq.name2=COL14A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V941G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-48;refseq.start=121336729;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr8 121599371 . A G 291.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.71;MQ0=0;OQ=11628.40;QD=41.98;RankSumP=1.00000;SB=-5457.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2346A>G;refseq.codonCoord=782;refseq.end=121599371;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2391;refseq.name=NM_022045;refseq.name2=MTBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E782E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=100;refseq.start=121599371;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr8 124033612 . G A 128.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=98.75;MQ0=0;OQ=1241.20;QD=13.95;RankSumP=0.351844;SB=-589.36;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.681G>A;refseq.codonCoord=227;refseq.end=124033612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_014943;refseq.name2=ZHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S227S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=900;refseq.start=124033612;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr8 124034134 . C T 275.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=11.18;MQ=99.00;MQ0=0;OQ=4810.77;QD=19.32;RankSumP=0.409040;SB=-927.55;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1203C>T;refseq.codonCoord=401;refseq.end=124034134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1770;refseq.name=NM_014943;refseq.name2=ZHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T401T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1316;refseq.start=124034134;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr8 124035340 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=29.52;MQ=98.73;MQ0=0;OQ=4906.44;QD=22.72;RankSumP=0.0155448;SB=-1756.40;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2409G>C;refseq.codonCoord=803;refseq.end=124035340;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2976;refseq.name=NM_014943;refseq.name2=ZHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A803A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-110;refseq.start=124035340;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr8 124208036 . G A 238.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=98.71;MQ0=0;OQ=4064.92;QD=16.46;RankSumP=0.0818745;SB=-1434.23;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1812G>A;refseq.codingCoordStr_2=c.1812G>A;refseq.codonCoord_1=604;refseq.codonCoord_2=604;refseq.end_1=124208036;refseq.end_2=124208036;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1902;refseq.mrnaCoord_2=1902;refseq.name2_1=WDR67;refseq.name2_2=WDR67;refseq.name_1=NM_001145088;refseq.name_2=NM_145647;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L604L;refseq.proteinCoordStr_2=p.L604L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=124208036;refseq.start_2=124208036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr8 124208072 . G A 361.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=98.68;MQ0=0;OQ=5487.28;QD=19.39;RankSumP=0.00601365;SB=-2286.19;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1848G>A;refseq.codingCoordStr_2=c.1848G>A;refseq.codonCoord_1=616;refseq.codonCoord_2=616;refseq.end_1=124208072;refseq.end_2=124208072;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1938;refseq.mrnaCoord_2=1938;refseq.name2_1=WDR67;refseq.name2_2=WDR67;refseq.name_1=NM_001145088;refseq.name_2=NM_145647;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T616T;refseq.proteinCoordStr_2=p.T616T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=124208072;refseq.start_2=124208072;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=filterInsoap-gatk GT 1/0 chr8 124209815 . T C 302.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=98.67;MQ0=0;OQ=7108.67;QD=16.23;RankSumP=6.41927e-07;SB=-2312.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1998T>C;refseq.codingCoordStr_2=c.1998T>C;refseq.codonCoord_1=666;refseq.codonCoord_2=666;refseq.end_1=124209815;refseq.end_2=124209815;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2088;refseq.mrnaCoord_2=2088;refseq.name2_1=WDR67;refseq.name2_2=WDR67;refseq.name_1=NM_001145088;refseq.name_2=NM_145647;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F666F;refseq.proteinCoordStr_2=p.F666F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=124209815;refseq.start_2=124209815;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 1/0 chr8 124211670 . T C 319.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=98.93;MQ0=0;OQ=6081.82;QD=18.66;RankSumP=0.239418;SB=-2345.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2322T>C;refseq.codingCoordStr_2=c.2322T>C;refseq.codonCoord_1=774;refseq.codonCoord_2=774;refseq.end_1=124211670;refseq.end_2=124211670;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2412;refseq.mrnaCoord_2=2412;refseq.name2_1=WDR67;refseq.name2_2=WDR67;refseq.name_1=NM_001145088;refseq.name_2=NM_145647;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D774D;refseq.proteinCoordStr_2=p.D774D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=124211670;refseq.start_2=124211670;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr8 124336111 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1257C>G;refseq.codingCoordStr_2=c.1257C>G;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.end_1=124336111;refseq.end_2=124336111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1782;refseq.mrnaCoord_2=1687;refseq.name2_1=ZHX1;refseq.name2_2=ZHX1;refseq.name_1=NM_001017926;refseq.name_2=NM_007222;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G419G;refseq.proteinCoordStr_2=p.G419G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-1369;refseq.spliceDist_2=-1369;refseq.start_1=124336111;refseq.start_2=124336111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr8 124733311 . C T 341.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=2.85;MQ=98.76;MQ0=0;OQ=11731.10;QD=41.90;RankSumP=1.00000;SB=-3925.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1037G>A;refseq.codonCoord=346;refseq.end=124733311;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1061;refseq.name=NM_001081675;refseq.name2=KLHL38;refseq.positionType=CDS;refseq.proteinCoordStr=p.R346K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-314;refseq.start=124733311;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr8 124733348 . T C 282.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.78;MQ0=0;OQ=7234.95;QD=33.65;RankSumP=1.00000;SB=-2778.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1000A>G;refseq.codonCoord=334;refseq.end=124733348;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_001081675;refseq.name2=KLHL38;refseq.positionType=CDS;refseq.proteinCoordStr=p.I334V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-351;refseq.start=124733348;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr8 124733973 . C T 451.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.95;MQ0=0;OQ=5881.94;QD=40.01;RankSumP=1.00000;SB=-2917.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.375G>A;refseq.codonCoord=125;refseq.end=124733973;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_001081675;refseq.name2=KLHL38;refseq.positionType=CDS;refseq.proteinCoordStr=p.S125S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=399;refseq.start=124733973;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr8 124734054 . A G 146.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=11.09;MQ=98.28;MQ0=0;OQ=7374.43;QD=39.02;RankSumP=1.00000;SB=-2718.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.294T>C;refseq.codonCoord=98;refseq.end=124734054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_001081675;refseq.name2=KLHL38;refseq.positionType=CDS;refseq.proteinCoordStr=p.H98H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=318;refseq.start=124734054;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr8 124734055 . T C 131.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=11.09;MQ=98.29;MQ0=0;OQ=6792.23;QD=35.56;RankSumP=1.00000;SB=-2529.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.293A>G;refseq.codonCoord=98;refseq.end=124734055;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_001081675;refseq.name2=KLHL38;refseq.positionType=CDS;refseq.proteinCoordStr=p.H98R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=317;refseq.start=124734055;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr8 124766048 . C T 348.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=4.08;MQ=98.78;MQ0=0;OQ=12762.28;QD=39.39;RankSumP=1.00000;SB=-3641.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.937G>A;refseq.codingCoordStr_2=c.814G>A;refseq.codonCoord_1=313;refseq.codonCoord_2=272;refseq.end_1=124766048;refseq.end_2=124766048;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1010;refseq.mrnaCoord_2=887;refseq.name2_1=ANXA13;refseq.name2_2=ANXA13;refseq.name_1=NM_001003954;refseq.name_2=NM_004306;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V313I;refseq.proteinCoordStr_2=p.V272I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=124766048;refseq.start_2=124766048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr8 124869146 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1253A>C;refseq.codonCoord=418;refseq.end=124869146;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_144963;refseq.name2=FAM91A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D418A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-26;refseq.start=124869146;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr8 124894007 . G A 229.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=84.06;MQ0=48;OQ=13058.50;QD=34.55;RankSumP=1.00000;SB=-3311.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2399G>A;refseq.codonCoord=800;refseq.end=124894007;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2460;refseq.name=NM_144963;refseq.name2=FAM91A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C800Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=68;refseq.start=124894007;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr8 125104969 . G C 219.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=99.00;MQ0=0;OQ=5833.28;QD=20.98;RankSumP=0.256083;SB=-1379.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2238G>C;refseq.codonCoord=746;refseq.end=125104969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2444;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A746A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-49;refseq.start=125104969;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr8 125131063 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=2.49379e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2759C>G;refseq.codonCoord=920;refseq.end=125131063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2965;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A920G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=35;refseq.start=125131063;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr8 125131076 . G A 79.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=13.65;MQ=98.17;MQ0=0;OQ=3189.95;QD=23.12;RankSumP=1.00000;SB=-1551.07;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2772G>A;refseq.codonCoord=924;refseq.end=125131076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2978;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K924K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=48;refseq.start=125131076;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr8 125141607 . T C 105.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=2;HaplotypeScore=5.07;MQ=98.81;MQ0=0;OQ=7194.20;QD=39.10;RankSumP=1.00000;SB=-1965.16;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2880T>C;refseq.codonCoord=960;refseq.end=125141607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3086;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P960P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=125141607;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr8 125145770 . T G 161.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.92;MQ0=0;OQ=5648.18;QD=32.46;RankSumP=1.00000;SB=-157.27;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3330T>G;refseq.codonCoord=1110;refseq.end=125145770;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3536;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1110E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=125145770;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr8 125176382 . G A 410.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.10;MQ0=0;OQ=4613.82;QD=41.94;RankSumP=1.00000;SB=-1481.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.4617G>A;refseq.codonCoord=1539;refseq.end=125176382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4823;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1539P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=65;refseq.start=125176382;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr8 125176388 . C T 75.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=114;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.13;MQ0=0;OQ=4731.04;QD=41.50;RankSumP=1.00000;SB=-1501.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.4623C>T;refseq.codonCoord=1541;refseq.end=125176388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4829;refseq.name=NM_001039112;refseq.name2=FER1L6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1541V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=71;refseq.start=125176388;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr8 125532431 . T C 267.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=10.03;MQ=98.74;MQ0=0;OQ=4781.54;QD=15.99;RankSumP=0.271500;SB=-961.53;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.82T>C;refseq.codonCoord=28;refseq.end=125532431;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=203;refseq.name=NM_017956;refseq.name2=TRMT12;refseq.positionType=CDS;refseq.proteinCoordStr=p.W28R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=203;refseq.start=125532431;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr8 125567728 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1010;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.84;MQ0=0;OQ=17244.34;QD=17.07;RankSumP=0.0305590;SB=-5437.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=125567728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_007218;refseq.name2=RNF139;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y219Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=476;refseq.start=125567728;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr8 125568544 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=380;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.93;MQ0=0;OQ=7050.68;QD=18.55;RankSumP=0.389428;SB=-2818.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1473G>A;refseq.codonCoord=491;refseq.end=125568544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1816;refseq.name=NM_007218;refseq.name2=RNF139;refseq.positionType=CDS;refseq.proteinCoordStr=p.S491S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1292;refseq.start=125568544;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr8 125597316 . G A 263.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=97.48;MQ0=0;OQ=6788.65;QD=19.79;RankSumP=0.437372;SB=-2277.07;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.198C>T;refseq.codingCoordStr_3=c.339C>T;refseq.codonCoord_2=66;refseq.codonCoord_3=113;refseq.end_1=125597316;refseq.end_2=125597316;refseq.end_3=125597316;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=381;refseq.mrnaCoord_2=265;refseq.mrnaCoord_3=381;refseq.name2_1=TATDN1;refseq.name2_2=TATDN1;refseq.name2_3=TATDN1;refseq.name_1=NR_027427;refseq.name_2=NM_001146160;refseq.name_3=NM_032026;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C66C;refseq.proteinCoordStr_3=p.C113C;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=125597316;refseq.start_2=125597316;refseq.start_3=125597316;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/0 chr8 125637802 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=6.79132e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1256A>C;refseq.codonCoord=419;refseq.end=125637802;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1790;refseq.name=NM_014751;refseq.name2=MTSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D419A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=26;refseq.start=125637802;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr8 126058879 . C T 160.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=98.99;MQ0=0;OQ=2271.93;QD=15.05;RankSumP=0.156679;SB=-1058.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1188C>T;refseq.codonCoord=396;refseq.end=126058879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_152412;refseq.name2=ZNF572;refseq.positionType=CDS;refseq.proteinCoordStr=p.S396S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1109;refseq.start=126058879;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr8 129090361 . G A 350.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.76;MQ0=0;OQ=5037.80;QD=19.01;RankSumP=0.266322;SB=-2075.08;SecondBestBaseQ=31;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.end_1=129151577;refseq.end_2=129090361;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=36;refseq.name2_1=PVT1;refseq.name2_2=MIR1206;refseq.name_1=NR_003367;refseq.name_2=NR_031611;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-24;refseq.start_1=129070730;refseq.start_2=129090361;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr8 130847141 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.485T>G;refseq.codonCoord=162;refseq.end=130847141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_031415;refseq.name2=GSDMC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V162G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=81;refseq.start=130847141;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr8 131193741 . T C 386.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.75;MQ0=0;OQ=5551.44;QD=41.12;RankSumP=1.00000;SB=-945.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2182A>G;refseq.codonCoord=728;refseq.end=131193741;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2210;refseq.name=NM_018482;refseq.name2=ASAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I728V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=131193741;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr8 131991138 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=646;Dels=0.00;HRun=3;HaplotypeScore=13.39;MQ=98.80;MQ0=0;OQ=24070.17;QD=37.26;RankSumP=1.00000;SB=-9340.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1638T>C;refseq.codonCoord=546;refseq.end=131991138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1894;refseq.name=NM_001115;refseq.name2=ADCY8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P546P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=131991138;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr8 133653740 . A G 357.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=429;Dels=0.00;HRun=0;HaplotypeScore=10.70;MQ=98.79;MQ0=0;OQ=8475.11;QD=19.76;RankSumP=0.364516;SB=-2273.24;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1397T>C;refseq.codonCoord=466;refseq.end=133653740;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1471;refseq.name=NM_012472;refseq.name2=LRRC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I466T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-112;refseq.start=133653740;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr8 133706841 . G A 208.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=2309.95;QD=15.40;RankSumP=0.421478;SB=-986.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.695C>T;refseq.codonCoord=232;refseq.end=133706841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_012472;refseq.name2=LRRC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T232I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=42;refseq.start=133706841;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr8 133809334 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.511T>C;refseq.codonCoord_2=171;refseq.end_1=133828359;refseq.end_2=133809334;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=740;refseq.name2_1=TMEM71;refseq.name2_2=TMEM71;refseq.name_1=NM_001145153;refseq.name_2=NM_144649;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S171P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=81;refseq.start_1=133803554;refseq.start_2=133809334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr8 133898436 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1305T>C;refseq.codingCoordStr_2=c.1305T>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=133898436;refseq.end_2=133898436;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1630;refseq.mrnaCoord_2=1630;refseq.name2_1=PHF20L1;refseq.name2_2=PHF20L1;refseq.name_1=NM_016018;refseq.name_2=NM_032205;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S435S;refseq.proteinCoordStr_2=p.S435S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=133898436;refseq.start_2=133898436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr8 133952824 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=583;Dels=0.00;HRun=1;HaplotypeScore=47.78;MQ=98.19;MQ0=0;OQ=310.79;QD=0.53;RankSumP=0.00000;SB=823.74;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.324C>A;refseq.codonCoord=108;refseq.end=133952824;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y108*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=50;refseq.start=133952824;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr8 133989700 . A G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=181;Dels=0.00;HRun=2;HaplotypeScore=8.37;MQ=98.17;MQ0=0;OQ=6762.21;QD=37.36;RankSumP=1.00000;SB=-2720.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3935A>G;refseq.codonCoord=1312;refseq.end=133989700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3976;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1312G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-68;refseq.start=133989700;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr8 134000930 . T C 182.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=7.92;MQ=98.73;MQ0=0;OQ=12641.48;QD=37.74;RankSumP=1.00000;SB=-5777.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.4506T>C;refseq.codonCoord=1502;refseq.end=134000930;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4547;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1502A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-23;refseq.start=134000930;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr8 134044465 . G A 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=86;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=3539.95;QD=41.16;RankSumP=1.00000;SB=-1635.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5512G>A;refseq.codonCoord=1838;refseq.end=134044465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5553;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1838N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-37;refseq.start=134044465;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr8 134050928 . G A 258.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=98.33;MQ0=0;OQ=7683.84;QD=23.21;RankSumP=0.406831;SB=-3151.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.5907G>A;refseq.codonCoord=1969;refseq.end=134050928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5948;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1969P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=44;refseq.start=134050928;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr8 134050942 . T C 258.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=98.39;MQ0=0;OQ=5864.95;QD=17.99;RankSumP=0.248172;SB=-2185.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.5921T>C;refseq.codonCoord=1974;refseq.end=134050942;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5962;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1974T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-55;refseq.start=134050942;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr8 134126509 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.codingCoordStr_2=c.386T>G;refseq.codingCoordStr_3=c.437T>G;refseq.codingCoordStr_4=c.506T>G;refseq.codonCoord_2=129;refseq.codonCoord_3=146;refseq.codonCoord_4=169;refseq.end_1=134176459;refseq.end_2=134126509;refseq.end_3=134126509;refseq.end_4=134126509;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1218;refseq.mrnaCoord_3=940;refseq.mrnaCoord_4=584;refseq.name2_1=TG;refseq.name2_2=SLA;refseq.name2_3=SLA;refseq.name2_4=SLA;refseq.name_1=NM_003235;refseq.name_2=NM_001045556;refseq.name_3=NM_001045557;refseq.name_4=NM_006748;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.V129G;refseq.proteinCoordStr_3=p.V146G;refseq.proteinCoordStr_4=p.V169G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.start_1=134111461;refseq.start_2=134126509;refseq.start_3=134126509;refseq.start_4=134126509;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=FilteredInAll GT 0/1 chr8 134177635 . C T 107.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=99.00;MQ0=0;OQ=1716.41;QD=13.41;RankSumP=0.0421330;SB=-561.20;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_3=c.7408C>T;refseq.codonCoord_3=2470;refseq.end_1=134183968;refseq.end_2=134183968;refseq.end_3=134177635;refseq.frame_3=0;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=7449;refseq.name2_1=SLA;refseq.name2_2=SLA;refseq.name2_3=TG;refseq.name_1=NM_001045557;refseq.name_2=NM_001045556;refseq.name_3=NM_003235;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L2470L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTG;refseq.spliceDist_3=4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=134141638;refseq.start_2=134156568;refseq.start_3=134177635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=Intersection GT 0/1 chr8 134177728 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.82;MQ0=0;OQ=2529.23;QD=12.90;RankSumP=0.348306;SB=-921.09;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_3=c.7501T>C;refseq.codonCoord_3=2501;refseq.end_1=134183968;refseq.end_2=134183968;refseq.end_3=134177728;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=7542;refseq.name2_1=SLA;refseq.name2_2=SLA;refseq.name2_3=TG;refseq.name_1=NM_001045557;refseq.name_2=NM_001045556;refseq.name_3=NM_003235;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.W2501R;refseq.referenceAA_3=Trp;refseq.referenceCodon_3=TGG;refseq.spliceDist_3=-72;refseq.start_1=134141638;refseq.start_2=134156568;refseq.start_3=134177728;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGG;set=Intersection GT 1/0 chr8 134194864 . G A 214.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=3.69;MQ=98.69;MQ0=0;OQ=3042.16;QD=14.84;RankSumP=0.195341;SB=-1269.65;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.7589G>A;refseq.codonCoord=2530;refseq.end=134194864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7630;refseq.name=NM_003235;refseq.name2=TG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2530Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=17;refseq.start=134194864;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr8 134302206 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=99.00;MQ0=0;OQ=1234.95;QD=16.25;RankSumP=0.0746159;SB=-484.46;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.550G>A;refseq.codonCoord_2=184;refseq.end_1=134306804;refseq.end_2=134302206;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=626;refseq.name2_1=WISP1;refseq.name2_2=WISP1;refseq.name_1=NM_080838;refseq.name_2=NM_003882;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V184I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=-61;refseq.start_1=134294579;refseq.start_2=134302206;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr8 134543330 . C T 267.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.75;MQ0=0;OQ=2537.54;QD=17.50;RankSumP=0.189934;SB=-1008.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.819G>A;refseq.codingCoordStr_2=c.819G>A;refseq.codonCoord_1=273;refseq.codonCoord_2=273;refseq.end_1=134543330;refseq.end_2=134543330;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1851;refseq.mrnaCoord_2=1648;refseq.name2_1=ST3GAL1;refseq.name2_2=ST3GAL1;refseq.name_1=NM_003033;refseq.name_2=NM_173344;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S273S;refseq.proteinCoordStr_2=p.S273S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=134543330;refseq.start_2=134543330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr8 134557189 . G A 117.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.74;MQ0=0;OQ=1132.78;QD=14.16;RankSumP=0.321851;SB=-215.17;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.261C>T;refseq.codingCoordStr_2=c.261C>T;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=134557189;refseq.end_2=134557189;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1293;refseq.mrnaCoord_2=1090;refseq.name2_1=ST3GAL1;refseq.name2_2=ST3GAL1;refseq.name_1=NM_003033;refseq.name_2=NM_173344;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T87T;refseq.proteinCoordStr_2=p.T87T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=134557189;refseq.start_2=134557189;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr8 135681777 . A G 289.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.79;MQ0=0;OQ=7561.45;QD=36.35;RankSumP=1.00000;SB=-2398.63;SecondBestBaseQ=0;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.end_1=135681850;refseq.end_2=135681850;refseq.end_3=135681850;refseq.end_4=135681850;refseq.end_5=135681850;refseq.end_6=135681777;refseq.haplotypeAlternate_6=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.mrnaCoord_6=602;refseq.name2_1=ZFAT;refseq.name2_2=ZFAT;refseq.name2_3=ZFAT;refseq.name2_4=ZFAT;refseq.name2_5=ZFAT;refseq.name2_6=ZFATAS;refseq.name_1=NM_001029939;refseq.name_2=NM_001167583;refseq.name_3=NM_001174157;refseq.name_4=NM_001174158;refseq.name_5=NM_020863;refseq.name_6=NR_002438;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=non_coding_exon;refseq.spliceDist_6=97;refseq.start_1=135671791;refseq.start_2=135671791;refseq.start_3=135671791;refseq.start_4=135671791;refseq.start_5=135671791;refseq.start_6=135681777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=+;set=Intersection GT 1/1 chr8 135681927 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=706;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=98.77;MQ0=0;OQ=11000.06;QD=15.58;RankSumP=0.372845;SB=-4407.37;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.codingCoordStr_2=c.2373T>C;refseq.codingCoordStr_3=c.2373T>C;refseq.codingCoordStr_4=c.2223T>C;refseq.codingCoordStr_5=c.2373T>C;refseq.codingCoordStr_6=c.2409T>C;refseq.codonCoord_2=791;refseq.codonCoord_3=791;refseq.codonCoord_4=741;refseq.codonCoord_5=791;refseq.codonCoord_6=803;refseq.end_1=135681927;refseq.end_2=135681927;refseq.end_3=135681927;refseq.end_4=135681927;refseq.end_5=135681927;refseq.end_6=135681927;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=2677;refseq.mrnaCoord_3=2518;refseq.mrnaCoord_4=2409;refseq.mrnaCoord_5=2518;refseq.mrnaCoord_6=2595;refseq.name2_1=ZFATAS;refseq.name2_2=ZFAT;refseq.name2_3=ZFAT;refseq.name2_4=ZFAT;refseq.name2_5=ZFAT;refseq.name2_6=ZFAT;refseq.name_1=NR_002438;refseq.name_2=NM_001029939;refseq.name_3=NM_001167583;refseq.name_4=NM_001174157;refseq.name_5=NM_001174158;refseq.name_6=NM_020863;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.D791D;refseq.proteinCoordStr_3=p.D791D;refseq.proteinCoordStr_4=p.D741D;refseq.proteinCoordStr_5=p.D791D;refseq.proteinCoordStr_6=p.D803D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.referenceCodon_6=GAT;refseq.spliceDist_1=-188;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.spliceDist_4=-67;refseq.spliceDist_5=-67;refseq.spliceDist_6=-67;refseq.start_1=135681927;refseq.start_2=135681927;refseq.start_3=135681927;refseq.start_4=135681927;refseq.start_5=135681927;refseq.start_6=135681927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;set=Intersection GT 0/1 chr8 135683887 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=31.09;MQ=97.98;MQ0=0;OQ=6288.69;QD=25.26;RankSumP=1.00000;SB=-612.02;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.1221T>C;refseq.codingCoordStr_2=c.1221T>C;refseq.codingCoordStr_3=c.1071T>C;refseq.codingCoordStr_4=c.1221T>C;refseq.codingCoordStr_5=c.1257T>C;refseq.codonCoord_1=407;refseq.codonCoord_2=407;refseq.codonCoord_3=357;refseq.codonCoord_4=407;refseq.codonCoord_5=419;refseq.end_1=135683887;refseq.end_2=135683887;refseq.end_3=135683887;refseq.end_4=135683887;refseq.end_5=135683887;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1525;refseq.mrnaCoord_2=1366;refseq.mrnaCoord_3=1257;refseq.mrnaCoord_4=1366;refseq.mrnaCoord_5=1443;refseq.name2_1=ZFAT;refseq.name2_2=ZFAT;refseq.name2_3=ZFAT;refseq.name2_4=ZFAT;refseq.name2_5=ZFAT;refseq.name_1=NM_001029939;refseq.name_2=NM_001167583;refseq.name_3=NM_001174157;refseq.name_4=NM_001174158;refseq.name_5=NM_020863;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R407R;refseq.proteinCoordStr_2=p.R407R;refseq.proteinCoordStr_3=p.R357R;refseq.proteinCoordStr_4=p.R407R;refseq.proteinCoordStr_5=p.R419R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.referenceCodon_5=CGT;refseq.spliceDist_1=472;refseq.spliceDist_2=472;refseq.spliceDist_3=472;refseq.spliceDist_4=472;refseq.spliceDist_5=472;refseq.start_1=135683887;refseq.start_2=135683887;refseq.start_3=135683887;refseq.start_4=135683887;refseq.start_5=135683887;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;set=Intersection GT 1/1 chr8 135684165 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.codingCoordStr_1=c.943G>C;refseq.codingCoordStr_2=c.943G>C;refseq.codingCoordStr_3=c.793G>C;refseq.codingCoordStr_4=c.943G>C;refseq.codingCoordStr_5=c.979G>C;refseq.codonCoord_1=315;refseq.codonCoord_2=315;refseq.codonCoord_3=265;refseq.codonCoord_4=315;refseq.codonCoord_5=327;refseq.end_1=135684165;refseq.end_2=135684165;refseq.end_3=135684165;refseq.end_4=135684165;refseq.end_5=135684165;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1247;refseq.mrnaCoord_2=1088;refseq.mrnaCoord_3=979;refseq.mrnaCoord_4=1088;refseq.mrnaCoord_5=1165;refseq.name2_1=ZFAT;refseq.name2_2=ZFAT;refseq.name2_3=ZFAT;refseq.name2_4=ZFAT;refseq.name2_5=ZFAT;refseq.name_1=NM_001029939;refseq.name_2=NM_001167583;refseq.name_3=NM_001174157;refseq.name_4=NM_001174158;refseq.name_5=NM_020863;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A315P;refseq.proteinCoordStr_2=p.A315P;refseq.proteinCoordStr_3=p.A265P;refseq.proteinCoordStr_4=p.A315P;refseq.proteinCoordStr_5=p.A327P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.spliceDist_1=194;refseq.spliceDist_2=194;refseq.spliceDist_3=194;refseq.spliceDist_4=194;refseq.spliceDist_5=194;refseq.start_1=135684165;refseq.start_2=135684165;refseq.start_3=135684165;refseq.start_4=135684165;refseq.start_5=135684165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr8 136728487 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1019A>C;refseq.codonCoord=340;refseq.end=136728487;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1413;refseq.name=NM_006558;refseq.name2=KHDRBS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D340A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=70;refseq.start=136728487;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr8 139218588 . G A 328.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.68;MQ=98.86;MQ0=0;OQ=12578.58;QD=41.93;RankSumP=1.00000;SB=-2970.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3999C>T;refseq.codonCoord=1333;refseq.end=139218588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4170;refseq.name=NM_015912;refseq.name2=FAM135B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1333L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-17;refseq.start=139218588;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr8 139233752 . C T 415.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5933.49;QD=40.92;RankSumP=1.00000;SB=-2874.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2148G>A;refseq.codonCoord=716;refseq.end=139233752;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2319;refseq.name=NM_015912;refseq.name2=FAM135B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P716P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=890;refseq.start=139233752;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr8 139234454 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=2;HaplotypeScore=1.48;MQ=98.85;MQ0=0;OQ=11404.53;QD=38.40;RankSumP=1.00000;SB=-5577.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1446A>G;refseq.codonCoord=482;refseq.end=139234454;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1617;refseq.name=NM_015912;refseq.name2=FAM135B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P482P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=188;refseq.start=139234454;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr8 139234471 . T C 278.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.88;MQ0=0;OQ=12098.71;QD=41.58;RankSumP=1.00000;SB=-5287.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1429A>G;refseq.codonCoord=477;refseq.end=139234471;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1600;refseq.name=NM_015912;refseq.name2=FAM135B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I477V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=171;refseq.start=139234471;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr8 139675609 . A T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=167.75;QD=12.90;RankSumP=0.0903263;SB=-68.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.4448T>A;refseq.codonCoord=1483;refseq.end=139675609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4895;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1483H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=16;refseq.start=139675609;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr8 139712156 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=98.55;MQ0=0;OQ=7605.43;QD=39.00;RankSumP=1.00000;SB=-3766.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3627A>G;refseq.codonCoord=1209;refseq.end=139712156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4074;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1209A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=18;refseq.start=139712156;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr8 139716444 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=150;Dels=0.00;HRun=3;HaplotypeScore=8.67;MQ=98.77;MQ0=0;OQ=2022.11;QD=13.48;RankSumP=0.00620965;SB=-976.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3600T>C;refseq.codonCoord=1200;refseq.end=139716444;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4047;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1200P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=139716444;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 0/1 chr8 139766660 . T C 213.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=98.55;MQ0=0;OQ=2516.32;QD=14.14;RankSumP=0.0923290;SB=-764.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2940A>G;refseq.codonCoord=980;refseq.end=139766660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3387;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P980P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-28;refseq.start=139766660;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 139770391 . G T 256.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=17.19;MQ=98.81;MQ0=0;OQ=8898.07;QD=19.30;RankSumP=0.0147582;SB=-3017.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2813C>A;refseq.codonCoord=938;refseq.end=139770391;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3260;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A938D;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=139770391;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr8 139893239 . G A 423.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.50;MQ0=0;OQ=5159.84;QD=40.31;RankSumP=1.00000;SB=-1702.06;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1434C>T;refseq.codonCoord=478;refseq.end=139893239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1881;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C478C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-16;refseq.start=139893239;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr8 139908094 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=475;Dels=0.00;HRun=1;HaplotypeScore=18.30;MQ=98.77;MQ0=0;OQ=17329.88;QD=36.48;RankSumP=1.00000;SB=-8468.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.958A>G;refseq.codonCoord=320;refseq.end=139908094;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S320G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-12;refseq.start=139908094;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr8 139908153 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=262;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.89;MQ0=0;OQ=5567.46;QD=21.25;RankSumP=0.372199;SB=-1125.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.899G>A;refseq.codonCoord=300;refseq.end=139908153;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1346;refseq.name=NM_152888;refseq.name2=COL22A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R300Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=54;refseq.start=139908153;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr8 140700172 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=19.94;MQ=98.71;MQ0=0;OQ=11115.64;QD=31.67;RankSumP=1.00000;SB=-3993.73;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.636T>C;refseq.codonCoord=212;refseq.end=140700172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_016601;refseq.name2=KCNK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G212G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=353;refseq.start=140700172;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr8 141332197 . G A 260.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.28;MQ0=0;OQ=1617.80;QD=20.22;RankSumP=0.310601;SB=-644.05;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2292C>T;refseq.codingCoordStr_2=c.2586C>T;refseq.codonCoord_1=764;refseq.codonCoord_2=862;refseq.end_1=141332197;refseq.end_2=141332197;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2426;refseq.mrnaCoord_2=2601;refseq.name2_1=TRAPPC9;refseq.name2_2=TRAPPC9;refseq.name_1=NM_001160372;refseq.name_2=NM_031466;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G764G;refseq.proteinCoordStr_2=p.G862G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=141332197;refseq.start_2=141332197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr8 141514414 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.838G>C;refseq.codingCoordStr_2=c.1132G>C;refseq.codonCoord_1=280;refseq.codonCoord_2=378;refseq.end_1=141514414;refseq.end_2=141514414;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=972;refseq.mrnaCoord_2=1147;refseq.name2_1=TRAPPC9;refseq.name2_2=TRAPPC9;refseq.name_1=NM_001160372;refseq.name_2=NM_031466;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A280P;refseq.proteinCoordStr_2=p.A378P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=141514414;refseq.start_2=141514414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr8 141628540 . G A 334.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=8.95;MQ=98.26;MQ0=0;OQ=2999.51;QD=19.35;RankSumP=0.493618;SB=-1289.54;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1443C>T;refseq.codingCoordStr_2=c.1443C>T;refseq.codonCoord_1=481;refseq.codonCoord_2=481;refseq.end_1=141628540;refseq.end_2=141628540;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1484;refseq.name2_1=EIF2C2;refseq.name2_2=EIF2C2;refseq.name_1=NM_001164623;refseq.name_2=NM_012154;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A481A;refseq.proteinCoordStr_2=p.A481A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=141628540;refseq.start_2=141628540;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr8 141635493 . C T 130.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=10.32;MQ=98.75;MQ0=0;OQ=4364.03;QD=21.50;RankSumP=0.303595;SB=-1473.41;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1101G>A;refseq.codingCoordStr_2=c.1101G>A;refseq.codonCoord_1=367;refseq.codonCoord_2=367;refseq.end_1=141635493;refseq.end_2=141635493;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1142;refseq.mrnaCoord_2=1142;refseq.name2_1=EIF2C2;refseq.name2_2=EIF2C2;refseq.name_1=NM_001164623;refseq.name_2=NM_012154;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A367A;refseq.proteinCoordStr_2=p.A367A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=141635493;refseq.start_2=141635493;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr8 141637791 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.853A>C;refseq.codingCoordStr_2=c.853A>C;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=141637791;refseq.end_2=141637791;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=894;refseq.mrnaCoord_2=894;refseq.name2_1=EIF2C2;refseq.name2_2=EIF2C2;refseq.name_1=NM_001164623;refseq.name_2=NM_012154;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T285P;refseq.proteinCoordStr_2=p.T285P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=141637791;refseq.start_2=141637791;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr8 141637804 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=31.21;MQ=98.83;MQ0=0;OQ=3993.33;QD=13.68;RankSumP=0.296676;SB=-1275.57;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.840C>T;refseq.codingCoordStr_2=c.840C>T;refseq.codonCoord_1=280;refseq.codonCoord_2=280;refseq.end_1=141637804;refseq.end_2=141637804;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=881;refseq.mrnaCoord_2=881;refseq.name2_1=EIF2C2;refseq.name2_2=EIF2C2;refseq.name_1=NM_001164623;refseq.name_2=NM_012154;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R280R;refseq.proteinCoordStr_2=p.R280R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=141637804;refseq.start_2=141637804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr8 141958771 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=502;Dels=0.00;HRun=1;HaplotypeScore=17.99;MQ=98.71;MQ0=0;OQ=10524.31;QD=20.96;RankSumP=0.239831;SB=-3907.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.409C>T;refseq.codingCoordStr_2=c.343C>T;refseq.codonCoord_1=137;refseq.codonCoord_2=115;refseq.end_1=141958771;refseq.end_2=141958771;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=562;refseq.mrnaCoord_2=573;refseq.name2_1=PTK2;refseq.name2_2=PTK2;refseq.name_1=NM_005607;refseq.name_2=NM_153831;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H137Y;refseq.proteinCoordStr_2=p.H115Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=141958771;refseq.start_2=141958771;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr8 142240066 . C T 57.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=168;Dels=0.00;HRun=2;HaplotypeScore=9.33;MQ=98.10;MQ0=0;OQ=6336.86;QD=37.72;RankSumP=1.00000;SB=-3134.48;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1110C>T;refseq.codonCoord=370;refseq.end=142240066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1388;refseq.name=NM_014957;refseq.name2=DENND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F370F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=142240066;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr8 142269649 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=97.49;MQ0=0;OQ=1344.67;QD=11.80;RankSumP=0.235609;SB=-555.74;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3090G>A;refseq.codonCoord=1030;refseq.end=142269649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3368;refseq.name=NM_014957;refseq.name2=DENND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1030P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-50;refseq.start=142269649;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr8 142273508 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=3.81;MQ=98.26;MQ0=0;OQ=2250.27;QD=21.85;RankSumP=0.282746;SB=-689.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3591C>G;refseq.codonCoord=1197;refseq.end=142273508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3869;refseq.name=NM_014957;refseq.name2=DENND3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1197G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=195;refseq.start=142273508;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr8 142290932 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2188T>G;refseq.codonCoord=730;refseq.end=142290932;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2496;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C730G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=47;refseq.start=142290932;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr8 142291556 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=98.64;MQ0=0;OQ=1502.48;QD=13.07;RankSumP=0.0438151;SB=-757.95;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2070T>C;refseq.codonCoord=690;refseq.end=142291556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2378;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G690G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-72;refseq.start=142291556;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr8 142291627 . T C 269.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.87;MQ0=0;OQ=2311.16;QD=15.83;RankSumP=0.489848;SB=-756.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1999A>G;refseq.codonCoord=667;refseq.end=142291627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2307;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N667D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-143;refseq.start=142291627;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr8 142297991 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=23.55;MQ=98.43;MQ0=0;OQ=5350.47;QD=16.67;RankSumP=0.391199;SB=-964.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.777A>G;refseq.codonCoord=259;refseq.end=142297991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A259A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=320;refseq.start=142297991;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr8 142298091 . G A 308.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=12.60;MQ=98.66;MQ0=0;OQ=6108.16;QD=19.15;RankSumP=0.0400539;SB=-1444.99;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.677C>T;refseq.codonCoord=226;refseq.end=142298091;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=985;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P226L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=220;refseq.start=142298091;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr8 142299073 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=99.00;MQ0=0;OQ=395.03;QD=9.88;RankSumP=0.125963;SB=-191.60;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.315T>C;refseq.codonCoord=105;refseq.end=142299073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_001080431;refseq.name2=SLC45A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I105I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=38;refseq.start=142299073;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr8 142436517 . T C 41.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.79;MQ0=0;OQ=155.54;QD=14.14;RankSumP=0.285714;SB=-45.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.689A>G;refseq.codonCoord=230;refseq.end=142436517;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=778;refseq.name=NM_005293;refseq.name2=GPR20;refseq.positionType=CDS;refseq.proteinCoordStr=p.H230R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=713;refseq.start=142436517;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/0 chr8 142436582 . G A 172.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.29;MQ0=0;OQ=190.75;QD=17.34;RankSumP=0.666667;SB=-113.62;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.624C>T;refseq.codonCoord=208;refseq.end=142436582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_005293;refseq.name2=GPR20;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=648;refseq.start=142436582;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr8 143411043 . C T 127.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=96.93;MQ0=0;OQ=758.75;QD=12.86;RankSumP=0.398964;SB=-367.80;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.802G>A;refseq.codonCoord=268;refseq.end=143411043;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_145003;refseq.name2=TSNARE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V268I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-22;refseq.start=143411043;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr8 143423627 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=99.00;MQ0=0;OQ=225.58;QD=13.27;RankSumP=0.360451;SB=-127.75;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.352A>G;refseq.codonCoord=118;refseq.end=143423627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_145003;refseq.name2=TSNARE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T118A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=114;refseq.start=143423627;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr8 143425085 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=13.42;MQ=98.85;MQ0=0;OQ=6015.34;QD=24.35;RankSumP=0.433618;SB=-1305.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.164G>C;refseq.codonCoord=55;refseq.end=143425085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_145003;refseq.name2=TSNARE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-75;refseq.start=143425085;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr8 143433941 . A G 129.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=8.16;MQ=98.37;MQ0=0;OQ=2107.48;QD=12.54;RankSumP=0.463203;SB=-747.75;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.52T>C;refseq.codonCoord=18;refseq.end=143433941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_145003;refseq.name2=TSNARE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F18L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-37;refseq.start=143433941;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr8 143691750 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.885C>G;refseq.codonCoord=295;refseq.end=143691750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1086;refseq.name=NM_015193;refseq.name2=ARC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G295G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-904;refseq.start=143691750;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr8 143691943 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.692T>G;refseq.codonCoord=231;refseq.end=143691943;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_015193;refseq.name2=ARC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V231G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=893;refseq.start=143691943;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr8 143692146 . G A 31.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.14;MQ0=0;OQ=94.01;QD=23.50;RankSumP=1.00000;SB=-53.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.489C>T;refseq.codonCoord=163;refseq.end=143692146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_015193;refseq.name2=ARC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D163D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=690;refseq.start=143692146;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 1/1 chr8 143778860 . G A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.88;MQ0=0;OQ=70.88;QD=10.13;RankSumP=0.200000;SB=-38.63;SecondBestBaseQ=25;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.-88G>A;refseq.codingCoordStr_2=c.-88G>A;refseq.codingCoordStr_3=c.-88G>A;refseq.end_1=143778860;refseq.end_2=143778860;refseq.end_3=143778860;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=330;refseq.mrnaCoord_2=330;refseq.mrnaCoord_3=330;refseq.name2_1=LY6K;refseq.name2_2=LY6K;refseq.name2_3=LY6K;refseq.name_1=NM_001160354;refseq.name_2=NM_001160355;refseq.name_3=NM_017527;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.spliceDist_1=-191;refseq.spliceDist_2=-191;refseq.spliceDist_3=-191;refseq.start_1=143778860;refseq.start_2=143778860;refseq.start_3=143778860;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/0 chr8 143779046 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=4.54;MQ=98.20;MQ0=0;OQ=508.71;QD=11.06;RankSumP=0.564173;SB=-275.61;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.99A>G;refseq.codingCoordStr_2=c.99A>G;refseq.codingCoordStr_3=c.99A>G;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=143779046;refseq.end_2=143779046;refseq.end_3=143779046;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=516;refseq.mrnaCoord_2=516;refseq.mrnaCoord_3=516;refseq.name2_1=LY6K;refseq.name2_2=LY6K;refseq.name2_3=LY6K;refseq.name_1=NM_001160354;refseq.name_2=NM_001160355;refseq.name_3=NM_017527;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R33R;refseq.proteinCoordStr_2=p.R33R;refseq.proteinCoordStr_3=p.R33R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=143779046;refseq.start_2=143779046;refseq.start_3=143779046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr8 143805953 . C T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=307.29;QD=8.78;RankSumP=0.0598900;SB=-74.04;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.187C>T;refseq.codonCoord=63;refseq.end=143805953;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_016647;refseq.name2=C8orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.L63L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-327;refseq.start=143805953;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr8 143806242 . C A 35.24 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=17.62;RankSumP=1.00000;SB=-39.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.476C>A;refseq.codonCoord=159;refseq.end=143806242;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_016647;refseq.name2=C8orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.S159*;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-38;refseq.start=143806242;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/1 chr8 143843048 . T G 24.09 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=23;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=94.14;MQ0=0;QD=1.05;RankSumP=0.500362;SB=5.05;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.373A>C;refseq.codingCoordStr_2=c.271A>C;refseq.codonCoord_1=125;refseq.codonCoord_2=91;refseq.end_1=143843048;refseq.end_2=143843048;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=293;refseq.name2_1=LYNX1;refseq.name2_2=LYNX1;refseq.name_1=NM_023946;refseq.name_2=NM_177458;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T125P;refseq.proteinCoordStr_2=p.T91P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=143843048;refseq.start_2=143843048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr8 143954131 . G T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=42.74;MQ0=14;OQ=791.44;QD=12.18;RankSumP=0.731818;SB=-296.32;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1120C>A;refseq.codingCoordStr_2=c.1120C>A;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=143954131;refseq.end_2=143954131;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=1127;refseq.name2_1=CYP11B1;refseq.name2_2=CYP11B1;refseq.name_1=NM_000497;refseq.name_2=NM_001026213;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R374R;refseq.proteinCoordStr_2=p.R374R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=143954131;refseq.start_2=143954131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr8 143958007 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=3;HaplotypeScore=1.87;MQ=92.82;MQ0=2;OQ=960.68;QD=13.53;RankSumP=0.189364;SB=-461.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.225A>G;refseq.codingCoordStr_2=c.225A>G;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=143958007;refseq.end_2=143958007;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=232;refseq.mrnaCoord_2=232;refseq.name2_1=CYP11B1;refseq.name2_2=CYP11B1;refseq.name_1=NM_000497;refseq.name_2=NM_001026213;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L75L;refseq.proteinCoordStr_2=p.L75L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=143958007;refseq.start_2=143958007;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr8 143991268 . A G 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=47.07;MQ0=30;QD=0.22;RankSumP=0.285679;SB=5.38;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1157T>C;refseq.codonCoord=386;refseq.end=143991268;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_000498;refseq.name2=CYP11B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V386A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=36;refseq.start=143991268;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 0/1 chr8 143991704 . G T 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=41.95;MQ0=13;OQ=279.03;QD=4.90;RankSumP=0.148851;SB=-110.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1120C>A;refseq.codonCoord=374;refseq.end=143991704;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1123;refseq.name=NM_000498;refseq.name2=CYP11B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R374R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=143991704;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr8 143992745 . C T 282.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=4.52;MQ=96.53;MQ0=0;OQ=3174.97;QD=15.95;RankSumP=0.0170452;SB=-874.31;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.891G>A;refseq.codonCoord=297;refseq.end=143992745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_000498;refseq.name2=CYP11B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A297A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-64;refseq.start=143992745;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr8 143992763 . C T 118.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=13.53;MQ=96.05;MQ0=0;OQ=6735.74;QD=41.07;RankSumP=1.00000;SB=-1873.92;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.873G>A;refseq.codonCoord=291;refseq.end=143992763;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_000498;refseq.name2=CYP11B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A291A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=74;refseq.start=143992763;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr8 144195984 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=98.71;MQ0=0;OQ=838.23;QD=10.75;RankSumP=0.485196;SB=-422.13;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.116T>C;refseq.codonCoord=39;refseq.end=144195984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_173687;refseq.name2=C8orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.L39P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=30;refseq.start=144195984;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr8 144311234 . A G 432.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=6833.11;QD=38.17;RankSumP=1.00000;SB=-2221.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.294T>C;refseq.codingCoordStr_2=c.294T>C;refseq.codingCoordStr_3=c.231T>C;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.codonCoord_3=77;refseq.end_1=144311234;refseq.end_2=144311234;refseq.end_3=144311234;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=453;refseq.mrnaCoord_2=433;refseq.mrnaCoord_3=397;refseq.name2_1=LY6H;refseq.name2_2=LY6H;refseq.name2_3=LY6H;refseq.name_1=NM_001130478;refseq.name_2=NM_001135655;refseq.name_3=NM_002347;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C98C;refseq.proteinCoordStr_2=p.C98C;refseq.proteinCoordStr_3=p.C77C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=144311234;refseq.start_2=144311234;refseq.start_3=144311234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/1 chr8 144311632 . C G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=486;Dels=0.00;HRun=1;HaplotypeScore=20.74;MQ=98.93;MQ0=0;OQ=21448.61;QD=44.13;RankSumP=1.00000;SB=-7186.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.213G>C;refseq.codingCoordStr_2=c.213G>C;refseq.codingCoordStr_3=c.150G>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.codonCoord_3=50;refseq.end_1=144311632;refseq.end_2=144311632;refseq.end_3=144311632;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=352;refseq.mrnaCoord_3=316;refseq.name2_1=LY6H;refseq.name2_2=LY6H;refseq.name2_3=LY6H;refseq.name_1=NM_001130478;refseq.name_2=NM_001135655;refseq.name_3=NM_002347;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T71T;refseq.proteinCoordStr_2=p.T71T;refseq.proteinCoordStr_3=p.T50T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=144311632;refseq.start_2=144311632;refseq.start_3=144311632;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr8 144367157 . G T 25.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.45;MQ0=0;OQ=277.40;QD=30.82;RankSumP=1.00000;SB=-94.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.138G>T;refseq.codonCoord=46;refseq.end=144367157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_178172;refseq.name2=GPIHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V46V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-44;refseq.start=144367157;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 1/1 chr8 144403387 . T C 137.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=869.82;QD=33.45;RankSumP=1.00000;SB=-442.47;SecondBestBaseQ=0;refseq.chr=chr8;refseq.codingCoordStr=c.-2T>C;refseq.end=144403387;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=357;refseq.name=NM_173832;refseq.name2=ZFP41;refseq.positionType=utr5;refseq.spliceDist=153;refseq.start=144403387;refseq.transcriptStrand=+;refseq.uorfChange=-1;set=Intersection GT 1/1 chr8 144403457 . T C 178.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=669.74;QD=35.25;RankSumP=1.00000;SB=-230.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.69T>C;refseq.codonCoord=23;refseq.end=144403457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_173832;refseq.name2=ZFP41;refseq.positionType=CDS;refseq.proteinCoordStr=p.S23S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=223;refseq.start=144403457;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr8 144423007 . A G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=3;HaplotypeScore=8.53;MQ=98.27;MQ0=0;OQ=7454.05;QD=34.19;RankSumP=1.00000;SB=-2980.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.66A>G;refseq.codonCoord=22;refseq.end=144423007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_138465;refseq.name2=GLI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P22P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-59;refseq.start=144423007;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr8 144429756 . G A 145.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.40;MQ0=0;OQ=71.99;QD=14.40;RankSumP=0.00000;SB=-40.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.538G>A;refseq.codonCoord=180;refseq.end=144429756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_138465;refseq.name2=GLI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A180T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=315;refseq.start=144429756;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr8 144449559 . C G 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=96.89;MQ0=0;OQ=573.84;QD=30.20;RankSumP=1.00000;SB=-247.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.339C>G;refseq.codonCoord=113;refseq.end=144449559;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_030895;refseq.name2=ZNF696;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=275;refseq.start=144449559;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr8 144450243 . A G 29.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=92.07;MQ0=0;OQ=228.09;QD=19.01;RankSumP=1.00000;SB=-116.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1023A>G;refseq.codonCoord=341;refseq.end=144450243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1432;refseq.name=NM_030895;refseq.name2=ZNF696;refseq.positionType=CDS;refseq.proteinCoordStr=p.R341R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=959;refseq.start=144450243;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/1 chr8 144463743 . G A 53.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.81;MQ0=0;OQ=557.57;QD=29.35;RankSumP=1.00000;SB=-47.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1573C>T;refseq.codonCoord=525;refseq.end=144463743;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_052963;refseq.name2=TOP1MT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R525W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=20;refseq.start=144463743;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr8 144474862 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.20;MQ0=0;OQ=359.53;QD=11.24;RankSumP=0.418607;SB=-108.56;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1030C>T;refseq.codonCoord=344;refseq.end=144474862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1049;refseq.name=NM_052963;refseq.name2=TOP1MT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R344C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=70;refseq.start=144474862;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr8 144583505 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.215G>T;refseq.codonCoord=72;refseq.end=144583505;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=215;refseq.name=NM_201589;refseq.name2=MAFA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S72I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=215;refseq.start=144583505;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/1 chr8 144691389 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=91;Dels=0.00;HRun=1;HaplotypeScore=6.95;MQ=98.84;MQ0=0;OQ=912.96;QD=10.03;RankSumP=0.443834;SB=-264.95;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1291T>C;refseq.codonCoord=431;refseq.end=144691389;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_015117;refseq.name2=ZC3H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S431P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-74;refseq.start=144691389;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr8 144713958 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=93.56;MQ0=0;OQ=370.47;QD=10.58;RankSumP=0.534551;SB=-118.10;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.453C>T;refseq.codingCoordStr_2=c.453C>T;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=144713958;refseq.end_2=144713958;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1156;refseq.mrnaCoord_2=602;refseq.name2_1=GSDMD;refseq.name2_2=GSDMD;refseq.name_1=NM_001166237;refseq.name_2=NM_024736;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R151R;refseq.proteinCoordStr_2=p.R151R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=144713958;refseq.start_2=144713958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr8 144715548 . G A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=63.86;QD=7.98;RankSumP=0.600000;SB=-43.64;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1023G>A;refseq.codingCoordStr_2=c.1023G>A;refseq.codonCoord_1=341;refseq.codonCoord_2=341;refseq.end_1=144715548;refseq.end_2=144715548;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1726;refseq.mrnaCoord_2=1172;refseq.name2_1=GSDMD;refseq.name2_2=GSDMD;refseq.name_1=NM_001166237;refseq.name_2=NM_024736;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P341P;refseq.proteinCoordStr_2=p.P341P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=144715548;refseq.start_2=144715548;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr8 144729854 . G A 186.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.68;MQ0=0;OQ=2049.72;QD=37.96;RankSumP=1.00000;SB=-758.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.913C>T;refseq.codonCoord=305;refseq.end=144729854;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_145201;refseq.name2=NAPRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L305L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=32;refseq.start=144729854;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr8 144733496 . G A 441.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.46;MQ0=0;OQ=4541.03;QD=40.19;RankSumP=1.00000;SB=-1387.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_1=c.1734C>T;refseq.codingCoordStr_2=c.1731C>T;refseq.codingCoordStr_3=c.636C>T;refseq.codingCoordStr_4=c.564C>T;refseq.codingCoordStr_5=c.636C>T;refseq.codingCoordStr_6=c.636C>T;refseq.codingCoordStr_7=c.1734C>T;refseq.codonCoord_1=578;refseq.codonCoord_2=577;refseq.codonCoord_3=212;refseq.codonCoord_4=188;refseq.codonCoord_5=212;refseq.codonCoord_6=212;refseq.codonCoord_7=578;refseq.end_1=144733496;refseq.end_2=144733496;refseq.end_3=144733496;refseq.end_4=144733496;refseq.end_5=144733496;refseq.end_6=144733496;refseq.end_7=144733496;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=2076;refseq.mrnaCoord_2=2190;refseq.mrnaCoord_3=1147;refseq.mrnaCoord_4=899;refseq.mrnaCoord_5=905;refseq.mrnaCoord_6=971;refseq.mrnaCoord_7=2193;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130053;refseq.name_2=NM_001130054;refseq.name_3=NM_001130055;refseq.name_4=NM_001130056;refseq.name_5=NM_001130057;refseq.name_6=NM_001960;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A578A;refseq.proteinCoordStr_2=p.A577A;refseq.proteinCoordStr_3=p.A212A;refseq.proteinCoordStr_4=p.A188A;refseq.proteinCoordStr_5=p.A212A;refseq.proteinCoordStr_6=p.A212A;refseq.proteinCoordStr_7=p.A578A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.spliceDist_6=24;refseq.spliceDist_7=24;refseq.start_1=144733496;refseq.start_2=144733496;refseq.start_3=144733496;refseq.start_4=144733496;refseq.start_5=144733496;refseq.start_6=144733496;refseq.start_7=144733496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;refseq.variantCodon_7=GCT;set=Intersection GT 1/1 chr8 144740054 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_1=c.1203T>G;refseq.codingCoordStr_2=c.1200T>G;refseq.codingCoordStr_3=c.105T>G;refseq.codingCoordStr_4=c.105T>G;refseq.codingCoordStr_5=c.105T>G;refseq.codingCoordStr_6=c.105T>G;refseq.codingCoordStr_7=c.1203T>G;refseq.codonCoord_1=401;refseq.codonCoord_2=400;refseq.codonCoord_3=35;refseq.codonCoord_4=35;refseq.codonCoord_5=35;refseq.codonCoord_6=35;refseq.codonCoord_7=401;refseq.end_1=144740054;refseq.end_2=144740054;refseq.end_3=144740054;refseq.end_4=144740054;refseq.end_5=144740054;refseq.end_6=144740054;refseq.end_7=144740054;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1545;refseq.mrnaCoord_2=1659;refseq.mrnaCoord_3=616;refseq.mrnaCoord_4=440;refseq.mrnaCoord_5=374;refseq.mrnaCoord_6=440;refseq.mrnaCoord_7=1662;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130053;refseq.name_2=NM_001130054;refseq.name_3=NM_001130055;refseq.name_4=NM_001130056;refseq.name_5=NM_001130057;refseq.name_6=NM_001960;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.G401G;refseq.proteinCoordStr_2=p.G400G;refseq.proteinCoordStr_3=p.G35G;refseq.proteinCoordStr_4=p.G35G;refseq.proteinCoordStr_5=p.G35G;refseq.proteinCoordStr_6=p.G35G;refseq.proteinCoordStr_7=p.G401G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.referenceCodon_7=GGT;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.spliceDist_5=-13;refseq.spliceDist_6=-13;refseq.spliceDist_7=-13;refseq.start_1=144740054;refseq.start_2=144740054;refseq.start_3=144740054;refseq.start_4=144740054;refseq.start_5=144740054;refseq.start_6=144740054;refseq.start_7=144740054;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;set=FilteredInAll GT 0/1 chr8 144742387 . C A 137.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=6.59;MQ=98.33;MQ0=0;OQ=2571.46;QD=30.61;RankSumP=1.00000;SB=-1189.37;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_5=c.1008G>T;refseq.codingCoordStr_6=c.1008G>T;refseq.codingCoordStr_7=c.1008G>T;refseq.codonCoord_5=336;refseq.codonCoord_6=336;refseq.codonCoord_7=336;refseq.end_1=144747195;refseq.end_2=144750181;refseq.end_3=144750650;refseq.end_4=144750650;refseq.end_5=144742387;refseq.end_6=144742387;refseq.end_7=144742387;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_5=1350;refseq.mrnaCoord_6=1467;refseq.mrnaCoord_7=1467;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130055;refseq.name_2=NM_001130057;refseq.name_3=NM_001130056;refseq.name_4=NM_001960;refseq.name_5=NM_001130053;refseq.name_6=NM_001130054;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.R336R;refseq.proteinCoordStr_6=p.R336R;refseq.proteinCoordStr_7=p.R336R;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_5=CGG;refseq.referenceCodon_6=CGG;refseq.referenceCodon_7=CGG;refseq.spliceDist_5=-84;refseq.spliceDist_6=-84;refseq.spliceDist_7=-84;refseq.start_1=144740173;refseq.start_2=144740176;refseq.start_3=144740176;refseq.start_4=144740176;refseq.start_5=144742387;refseq.start_6=144742387;refseq.start_7=144742387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantCodon_5=CGT;refseq.variantCodon_6=CGT;refseq.variantCodon_7=CGT;set=Intersection GT 1/1 chr8 144742691 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=6.23252e-05;SecondBestBaseQ=6;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_5=c.704A>G;refseq.codingCoordStr_6=c.704A>G;refseq.codingCoordStr_7=c.704A>G;refseq.codonCoord_5=235;refseq.codonCoord_6=235;refseq.codonCoord_7=235;refseq.end_1=144747195;refseq.end_2=144750181;refseq.end_3=144750650;refseq.end_4=144750650;refseq.end_5=144742691;refseq.end_6=144742691;refseq.end_7=144742691;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_5=1046;refseq.mrnaCoord_6=1163;refseq.mrnaCoord_7=1163;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130055;refseq.name_2=NM_001130057;refseq.name_3=NM_001130056;refseq.name_4=NM_001960;refseq.name_5=NM_001130053;refseq.name_6=NM_001130054;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.E235G;refseq.proteinCoordStr_6=p.E235G;refseq.proteinCoordStr_7=p.E235G;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.referenceCodon_7=GAG;refseq.spliceDist_5=-388;refseq.spliceDist_6=-388;refseq.spliceDist_7=-388;refseq.start_1=144740173;refseq.start_2=144740176;refseq.start_3=144740176;refseq.start_4=144740176;refseq.start_5=144742691;refseq.start_6=144742691;refseq.start_7=144742691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;set=FilteredInAll GT 1/0 chr8 144742828 . G C 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=14;Dels=0.00;HRun=2;HaplotypeScore=1.37;MQ=99.00;MQ0=0;OQ=500.65;QD=35.76;RankSumP=1.00000;SB=-112.85;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_5=c.567C>G;refseq.codingCoordStr_6=c.567C>G;refseq.codingCoordStr_7=c.567C>G;refseq.codonCoord_5=189;refseq.codonCoord_6=189;refseq.codonCoord_7=189;refseq.end_1=144747195;refseq.end_2=144750181;refseq.end_3=144750650;refseq.end_4=144750650;refseq.end_5=144742828;refseq.end_6=144742828;refseq.end_7=144742828;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_5=909;refseq.mrnaCoord_6=1026;refseq.mrnaCoord_7=1026;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130055;refseq.name_2=NM_001130057;refseq.name_3=NM_001130056;refseq.name_4=NM_001960;refseq.name_5=NM_001130053;refseq.name_6=NM_001130054;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.D189E;refseq.proteinCoordStr_6=p.D189E;refseq.proteinCoordStr_7=p.D189E;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.referenceCodon_7=GAC;refseq.spliceDist_5=-525;refseq.spliceDist_6=-525;refseq.spliceDist_7=-525;refseq.start_1=144740173;refseq.start_2=144740176;refseq.start_3=144740176;refseq.start_4=144740176;refseq.start_5=144742828;refseq.start_6=144742828;refseq.start_7=144742828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Glu;refseq.variantAA_6=Glu;refseq.variantAA_7=Glu;refseq.variantCodon_5=GAG;refseq.variantCodon_6=GAG;refseq.variantCodon_7=GAG;set=Intersection GT 1/1 chr8 144743065 . G A 411.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=99.29;MQ0=0;OQ=2631.22;QD=36.54;RankSumP=1.00000;SB=-1136.01;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.codingCoordStr_5=c.330C>T;refseq.codingCoordStr_6=c.330C>T;refseq.codingCoordStr_7=c.330C>T;refseq.codonCoord_5=110;refseq.codonCoord_6=110;refseq.codonCoord_7=110;refseq.end_1=144747195;refseq.end_2=144750181;refseq.end_3=144750650;refseq.end_4=144750650;refseq.end_5=144743065;refseq.end_6=144743065;refseq.end_7=144743065;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_5=672;refseq.mrnaCoord_6=789;refseq.mrnaCoord_7=789;refseq.name2_1=EEF1D;refseq.name2_2=EEF1D;refseq.name2_3=EEF1D;refseq.name2_4=EEF1D;refseq.name2_5=EEF1D;refseq.name2_6=EEF1D;refseq.name2_7=EEF1D;refseq.name_1=NM_001130055;refseq.name_2=NM_001130057;refseq.name_3=NM_001130056;refseq.name_4=NM_001960;refseq.name_5=NM_001130053;refseq.name_6=NM_001130054;refseq.name_7=NM_032378;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.R110R;refseq.proteinCoordStr_6=p.R110R;refseq.proteinCoordStr_7=p.R110R;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.referenceCodon_7=CGC;refseq.spliceDist_5=330;refseq.spliceDist_6=330;refseq.spliceDist_7=330;refseq.start_1=144740173;refseq.start_2=144740176;refseq.start_3=144740176;refseq.start_4=144740176;refseq.start_5=144743065;refseq.start_6=144743065;refseq.start_7=144743065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantCodon_5=CGT;refseq.variantCodon_6=CGT;refseq.variantCodon_7=CGT;set=Intersection GT 1/1 chr8 144752365 . G A 10.64 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=98.24;MQ0=0;QD=0.66;SB=-29.48;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1149G>A;refseq.codonCoord=383;refseq.end=144752365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_032862;refseq.name2=TIGD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P383P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1149;refseq.start=144752365;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:14,2:15:-8.83,-4.52,-49.46:43.08 chr8 144752920 . G T 87.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=95.83;MQ0=0;OQ=822.09;QD=32.88;RankSumP=1.00000;SB=-181.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1704G>T;refseq.codonCoord=568;refseq.end=144752920;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_032862;refseq.name2=TIGD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M568I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-708;refseq.start=144752920;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr8 144759879 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=98.13;MQ0=0;OQ=1448.69;QD=15.92;RankSumP=0.125343;SB=-498.00;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.486G>C;refseq.codonCoord=162;refseq.end=144759879;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_023078;refseq.name2=PYCRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K162N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-100;refseq.start=144759879;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr8 144760289 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=18.51;MQ=98.44;MQ0=0;OQ=1959.45;QD=12.40;RankSumP=0.00196801;SB=-633.97;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.349G>A;refseq.codonCoord=117;refseq.end=144760289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_023078;refseq.name2=PYCRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V117M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-24;refseq.start=144760289;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=filterInsoap-gatk GT 0/1 chr8 144766572 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.847A>C;refseq.codonCoord=283;refseq.end=144766572;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_003313;refseq.name2=TSTA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T283P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=37;refseq.start=144766572;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr8 144768184 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=19.59;MQ=98.48;MQ0=0;OQ=1838.54;QD=11.14;RankSumP=0.0769558;SB=-614.53;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.306T>C;refseq.codonCoord=102;refseq.end=144768184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_003313;refseq.name2=TSTA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F102F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=45;refseq.start=144768184;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr8 144803506 . T C 272.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=98.52;MQ0=0;OQ=10215.19;QD=38.84;RankSumP=1.00000;SB=-3467.79;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.201T>C;refseq.codingCoordStr_2=c.321T>C;refseq.codonCoord_1=67;refseq.codonCoord_2=107;refseq.end_1=144803506;refseq.end_2=144803506;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=509;refseq.mrnaCoord_2=410;refseq.name2_1=ZNF623;refseq.name2_2=ZNF623;refseq.name_1=NM_001082480;refseq.name_2=NM_014789;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N67N;refseq.proteinCoordStr_2=p.N107N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=296;refseq.spliceDist_2=410;refseq.start_1=144803506;refseq.start_2=144803506;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr8 144803561 . A G 118.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=17250.47;QD=38.68;RankSumP=1.00000;SB=-8044.57;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.256A>G;refseq.codingCoordStr_2=c.376A>G;refseq.codonCoord_1=86;refseq.codonCoord_2=126;refseq.end_1=144803561;refseq.end_2=144803561;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=564;refseq.mrnaCoord_2=465;refseq.name2_1=ZNF623;refseq.name2_2=ZNF623;refseq.name_1=NM_001082480;refseq.name_2=NM_014789;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N86D;refseq.proteinCoordStr_2=p.N126D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=351;refseq.spliceDist_2=465;refseq.start_1=144803561;refseq.start_2=144803561;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr8 144803593 . G A 308.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=98.76;MQ0=0;OQ=9235.98;QD=20.48;RankSumP=0.244275;SB=-3340.76;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.288G>A;refseq.codingCoordStr_2=c.408G>A;refseq.codonCoord_1=96;refseq.codonCoord_2=136;refseq.end_1=144803593;refseq.end_2=144803593;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=596;refseq.mrnaCoord_2=497;refseq.name2_1=ZNF623;refseq.name2_2=ZNF623;refseq.name_1=NM_001082480;refseq.name_2=NM_014789;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S96S;refseq.proteinCoordStr_2=p.S136S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=383;refseq.spliceDist_2=497;refseq.start_1=144803593;refseq.start_2=144803593;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr8 144873231 . C T 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=193.64;QD=8.80;RankSumP=0.0830849;SB=8.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.498C>T;refseq.codonCoord=166;refseq.end=144873231;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=539;refseq.name=NM_139021;refseq.name2=MAPK15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P166P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=81;refseq.start=144873231;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr8 144873291 . G A 188.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.48;MQ0=0;OQ=218.73;QD=36.45;RankSumP=1.00000;SB=-48.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.558G>A;refseq.codonCoord=186;refseq.end=144873291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_139021;refseq.name2=MAPK15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P186P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-24;refseq.start=144873291;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/1 chr8 144873581 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=8.37;MQ=98.03;MQ0=0;OQ=1609.89;QD=12.01;RankSumP=0.381292;SB=-811.51;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.662C>A;refseq.codonCoord=221;refseq.end=144873581;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_139021;refseq.name2=MAPK15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T221K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-60;refseq.start=144873581;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr8 144876287 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=2;HaplotypeScore=17.08;MQ=97.94;MQ0=0;OQ=3131.76;QD=16.75;RankSumP=0.347864;SB=-1549.22;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1513T>C;refseq.codonCoord=505;refseq.end=144876287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1554;refseq.name=NM_139021;refseq.name2=MAPK15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S505P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=55;refseq.start=144876287;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr8 144880735 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=3.53;MQ=98.23;MQ0=0;OQ=1538.08;QD=16.54;RankSumP=0.222336;SB=-664.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2884C>T;refseq.codonCoord=962;refseq.end=144880735;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2953;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.L962L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=2147;refseq.start=144880735;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr8 144881256 . C T 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.22;MQ0=0;OQ=160.21;QD=17.80;RankSumP=0.0583333;SB=-77.08;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2363G>A;refseq.codonCoord=788;refseq.end=144881256;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2432;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.S788N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1626;refseq.start=144881256;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr8 144881792 . G A 167.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=95.98;MQ0=0;OQ=374.27;QD=19.70;RankSumP=1.00000;SB=-209.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1827C>T;refseq.codonCoord=609;refseq.end=144881792;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1896;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y609Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1090;refseq.start=144881792;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr8 144882126 . G A 72.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=77.13;QD=19.28;RankSumP=0.250000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1493C>T;refseq.codonCoord=498;refseq.end=144882126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1562;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.P498L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=756;refseq.start=144882126;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr8 144882286 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1333A>C;refseq.codonCoord=445;refseq.end=144882286;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.T445P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=596;refseq.start=144882286;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 144883326 . C G 124.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=4.63;MQ=98.40;MQ0=0;OQ=13178.68;QD=44.37;RankSumP=1.00000;SB=-5868.48;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.603G>C;refseq.codonCoord=201;refseq.end=144883326;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_198488;refseq.name2=FAM83H;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q201H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=144883326;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr8 144946542 . T C 98.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=250.44;QD=20.87;RankSumP=1.00000;SB=-101.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.4350A>G;refseq.codingCoordStr_2=c.4350A>G;refseq.codonCoord_1=1450;refseq.codonCoord_2=1450;refseq.end_1=144946542;refseq.end_2=144946542;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4357;refseq.mrnaCoord_2=4357;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1450P;refseq.proteinCoordStr_2=p.P1450P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=144946542;refseq.start_2=144946542;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr8 144946945 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=48;Dels=0.00;HRun=0;HaplotypeScore=9.85;MQ=97.23;MQ0=0;OQ=683.24;QD=14.23;RankSumP=0.577425;SB=-279.30;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.4098C>T;refseq.codingCoordStr_2=c.4098C>T;refseq.codonCoord_1=1366;refseq.codonCoord_2=1366;refseq.end_1=144946945;refseq.end_2=144946945;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4105;refseq.mrnaCoord_2=4105;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1366R;refseq.proteinCoordStr_2=p.R1366R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=144946945;refseq.start_2=144946945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr8 144957568 . A G 72.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.03;MQ0=0;OQ=804.40;QD=22.98;RankSumP=1.00000;SB=-221.08;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.3576T>C;refseq.codingCoordStr_2=c.3576T>C;refseq.codonCoord_1=1192;refseq.codonCoord_2=1192;refseq.end_1=144957568;refseq.end_2=144957568;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3583;refseq.mrnaCoord_2=3583;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F1192F;refseq.proteinCoordStr_2=p.F1192F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=144957568;refseq.start_2=144957568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 1/1 chr8 144957672 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.3472T>G;refseq.codingCoordStr_2=c.3472T>G;refseq.codonCoord_1=1158;refseq.codonCoord_2=1158;refseq.end_1=144957672;refseq.end_2=144957672;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3479;refseq.mrnaCoord_2=3479;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1158V;refseq.proteinCoordStr_2=p.L1158V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=144957672;refseq.start_2=144957672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr8 144958797 . C T 119.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.85;MQ=98.39;MQ0=0;OQ=816.43;QD=15.40;RankSumP=0.279299;SB=-326.84;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2938G>A;refseq.codingCoordStr_2=c.2938G>A;refseq.codonCoord_1=980;refseq.codonCoord_2=980;refseq.end_1=144958797;refseq.end_2=144958797;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2945;refseq.mrnaCoord_2=2945;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G980R;refseq.proteinCoordStr_2=p.G980R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=144958797;refseq.start_2=144958797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr8 144961160 . A G 253.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.59;MQ=98.48;MQ0=0;OQ=1898.13;QD=37.22;RankSumP=1.00000;SB=-620.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2190T>C;refseq.codingCoordStr_2=c.2190T>C;refseq.codonCoord_1=730;refseq.codonCoord_2=730;refseq.end_1=144961160;refseq.end_2=144961160;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2197;refseq.mrnaCoord_2=2197;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T730T;refseq.proteinCoordStr_2=p.T730T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=144961160;refseq.start_2=144961160;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr8 144962861 . A T 117.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=915.35;QD=36.61;RankSumP=1.00000;SB=-173.57;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.2021T>A;refseq.codingCoordStr_2=c.2021T>A;refseq.codonCoord_1=674;refseq.codonCoord_2=674;refseq.end_1=144962861;refseq.end_2=144962861;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2028;refseq.mrnaCoord_2=2028;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V674E;refseq.proteinCoordStr_2=p.V674E;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-95;refseq.spliceDist_2=-95;refseq.start_1=144962861;refseq.start_2=144962861;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr8 144965072 . G A 144.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=438.56;QD=15.12;RankSumP=0.675774;SB=-177.18;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1265C>T;refseq.codingCoordStr_2=c.1265C>T;refseq.codonCoord_1=422;refseq.codonCoord_2=422;refseq.end_1=144965072;refseq.end_2=144965072;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1272;refseq.mrnaCoord_2=1272;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P422L;refseq.proteinCoordStr_2=p.P422L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=144965072;refseq.start_2=144965072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr8 144966484 . G A 144.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=16.37;MQ=98.62;MQ0=0;OQ=11454.49;QD=36.36;RankSumP=1.00000;SB=-5103.82;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.846C>T;refseq.codingCoordStr_2=c.846C>T;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.end_1=144966484;refseq.end_2=144966484;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=853;refseq.mrnaCoord_2=853;refseq.name2_1=SCRIB;refseq.name2_2=SCRIB;refseq.name_1=NM_015356;refseq.name_2=NM_182706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T282T;refseq.proteinCoordStr_2=p.T282T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=144966484;refseq.start_2=144966484;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr8 145062516 . A G 77.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.51;MQ0=0;OQ=396.65;QD=33.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.13542T>C;refseq.codingCoordStr_2=c.13419T>C;refseq.codingCoordStr_3=c.13395T>C;refseq.codingCoordStr_4=c.13872T>C;refseq.codingCoordStr_5=c.13365T>C;refseq.codingCoordStr_6=c.13461T>C;refseq.codingCoordStr_7=c.13473T>C;refseq.codingCoordStr_8=c.13461T>C;refseq.codonCoord_1=4514;refseq.codonCoord_2=4473;refseq.codonCoord_3=4465;refseq.codonCoord_4=4624;refseq.codonCoord_5=4455;refseq.codonCoord_6=4487;refseq.codonCoord_7=4491;refseq.codonCoord_8=4487;refseq.end_1=145062516;refseq.end_2=145062516;refseq.end_3=145062516;refseq.end_4=145062516;refseq.end_5=145062516;refseq.end_6=145062516;refseq.end_7=145062516;refseq.end_8=145062516;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=13591;refseq.mrnaCoord_2=13476;refseq.mrnaCoord_3=13544;refseq.mrnaCoord_4=14042;refseq.mrnaCoord_5=13439;refseq.mrnaCoord_6=13513;refseq.mrnaCoord_7=13482;refseq.mrnaCoord_8=13590;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A4514A;refseq.proteinCoordStr_2=p.A4473A;refseq.proteinCoordStr_3=p.A4465A;refseq.proteinCoordStr_4=p.A4624A;refseq.proteinCoordStr_5=p.A4455A;refseq.proteinCoordStr_6=p.A4487A;refseq.proteinCoordStr_7=p.A4491A;refseq.proteinCoordStr_8=p.A4487A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=-1208;refseq.spliceDist_2=-1208;refseq.spliceDist_3=-1208;refseq.spliceDist_4=-1208;refseq.spliceDist_5=-1208;refseq.spliceDist_6=-1208;refseq.spliceDist_7=-1208;refseq.spliceDist_8=-1208;refseq.start_1=145062516;refseq.start_2=145062516;refseq.start_3=145062516;refseq.start_4=145062516;refseq.start_5=145062516;refseq.start_6=145062516;refseq.start_7=145062516;refseq.start_8=145062516;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145063164 . T C 151.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=98.47;MQ0=0;OQ=3340.27;QD=31.81;RankSumP=1.00000;SB=-1445.25;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.12894A>G;refseq.codingCoordStr_2=c.12771A>G;refseq.codingCoordStr_3=c.12747A>G;refseq.codingCoordStr_4=c.13224A>G;refseq.codingCoordStr_5=c.12717A>G;refseq.codingCoordStr_6=c.12813A>G;refseq.codingCoordStr_7=c.12825A>G;refseq.codingCoordStr_8=c.12813A>G;refseq.codonCoord_1=4298;refseq.codonCoord_2=4257;refseq.codonCoord_3=4249;refseq.codonCoord_4=4408;refseq.codonCoord_5=4239;refseq.codonCoord_6=4271;refseq.codonCoord_7=4275;refseq.codonCoord_8=4271;refseq.end_1=145063164;refseq.end_2=145063164;refseq.end_3=145063164;refseq.end_4=145063164;refseq.end_5=145063164;refseq.end_6=145063164;refseq.end_7=145063164;refseq.end_8=145063164;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=12943;refseq.mrnaCoord_2=12828;refseq.mrnaCoord_3=12896;refseq.mrnaCoord_4=13394;refseq.mrnaCoord_5=12791;refseq.mrnaCoord_6=12865;refseq.mrnaCoord_7=12834;refseq.mrnaCoord_8=12942;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S4298S;refseq.proteinCoordStr_2=p.S4257S;refseq.proteinCoordStr_3=p.S4249S;refseq.proteinCoordStr_4=p.S4408S;refseq.proteinCoordStr_5=p.S4239S;refseq.proteinCoordStr_6=p.S4271S;refseq.proteinCoordStr_7=p.S4275S;refseq.proteinCoordStr_8=p.S4271S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.referenceCodon_6=TCA;refseq.referenceCodon_7=TCA;refseq.referenceCodon_8=TCA;refseq.spliceDist_1=-1856;refseq.spliceDist_2=-1856;refseq.spliceDist_3=-1856;refseq.spliceDist_4=-1856;refseq.spliceDist_5=-1856;refseq.spliceDist_6=-1856;refseq.spliceDist_7=-1856;refseq.spliceDist_8=-1856;refseq.start_1=145063164;refseq.start_2=145063164;refseq.start_3=145063164;refseq.start_4=145063164;refseq.start_5=145063164;refseq.start_6=145063164;refseq.start_7=145063164;refseq.start_8=145063164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;refseq.variantCodon_6=TCG;refseq.variantCodon_7=TCG;refseq.variantCodon_8=TCG;set=Intersection GT 1/1 chr8 145064091 . T C 237.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.72;MQ0=0;OQ=4495.92;QD=35.12;RankSumP=1.00000;SB=-2218.24;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.11967A>G;refseq.codingCoordStr_2=c.11844A>G;refseq.codingCoordStr_3=c.11820A>G;refseq.codingCoordStr_4=c.12297A>G;refseq.codingCoordStr_5=c.11790A>G;refseq.codingCoordStr_6=c.11886A>G;refseq.codingCoordStr_7=c.11898A>G;refseq.codingCoordStr_8=c.11886A>G;refseq.codonCoord_1=3989;refseq.codonCoord_2=3948;refseq.codonCoord_3=3940;refseq.codonCoord_4=4099;refseq.codonCoord_5=3930;refseq.codonCoord_6=3962;refseq.codonCoord_7=3966;refseq.codonCoord_8=3962;refseq.end_1=145064091;refseq.end_2=145064091;refseq.end_3=145064091;refseq.end_4=145064091;refseq.end_5=145064091;refseq.end_6=145064091;refseq.end_7=145064091;refseq.end_8=145064091;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=12016;refseq.mrnaCoord_2=11901;refseq.mrnaCoord_3=11969;refseq.mrnaCoord_4=12467;refseq.mrnaCoord_5=11864;refseq.mrnaCoord_6=11938;refseq.mrnaCoord_7=11907;refseq.mrnaCoord_8=12015;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T3989T;refseq.proteinCoordStr_2=p.T3948T;refseq.proteinCoordStr_3=p.T3940T;refseq.proteinCoordStr_4=p.T4099T;refseq.proteinCoordStr_5=p.T3930T;refseq.proteinCoordStr_6=p.T3962T;refseq.proteinCoordStr_7=p.T3966T;refseq.proteinCoordStr_8=p.T3962T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.referenceCodon_8=ACA;refseq.spliceDist_1=-2783;refseq.spliceDist_2=-2783;refseq.spliceDist_3=-2783;refseq.spliceDist_4=-2783;refseq.spliceDist_5=-2783;refseq.spliceDist_6=-2783;refseq.spliceDist_7=-2783;refseq.spliceDist_8=-2783;refseq.start_1=145064091;refseq.start_2=145064091;refseq.start_3=145064091;refseq.start_4=145064091;refseq.start_5=145064091;refseq.start_6=145064091;refseq.start_7=145064091;refseq.start_8=145064091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;refseq.variantCodon_6=ACG;refseq.variantCodon_7=ACG;refseq.variantCodon_8=ACG;set=Intersection GT 1/1 chr8 145064349 . T C 169.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=8.29;MQ=96.28;MQ0=0;OQ=1284.45;QD=20.72;RankSumP=1.00000;SB=-433.51;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.11709A>G;refseq.codingCoordStr_2=c.11586A>G;refseq.codingCoordStr_3=c.11562A>G;refseq.codingCoordStr_4=c.12039A>G;refseq.codingCoordStr_5=c.11532A>G;refseq.codingCoordStr_6=c.11628A>G;refseq.codingCoordStr_7=c.11640A>G;refseq.codingCoordStr_8=c.11628A>G;refseq.codonCoord_1=3903;refseq.codonCoord_2=3862;refseq.codonCoord_3=3854;refseq.codonCoord_4=4013;refseq.codonCoord_5=3844;refseq.codonCoord_6=3876;refseq.codonCoord_7=3880;refseq.codonCoord_8=3876;refseq.end_1=145064349;refseq.end_2=145064349;refseq.end_3=145064349;refseq.end_4=145064349;refseq.end_5=145064349;refseq.end_6=145064349;refseq.end_7=145064349;refseq.end_8=145064349;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=11758;refseq.mrnaCoord_2=11643;refseq.mrnaCoord_3=11711;refseq.mrnaCoord_4=12209;refseq.mrnaCoord_5=11606;refseq.mrnaCoord_6=11680;refseq.mrnaCoord_7=11649;refseq.mrnaCoord_8=11757;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.P3903P;refseq.proteinCoordStr_2=p.P3862P;refseq.proteinCoordStr_3=p.P3854P;refseq.proteinCoordStr_4=p.P4013P;refseq.proteinCoordStr_5=p.P3844P;refseq.proteinCoordStr_6=p.P3876P;refseq.proteinCoordStr_7=p.P3880P;refseq.proteinCoordStr_8=p.P3876P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.referenceCodon_6=CCA;refseq.referenceCodon_7=CCA;refseq.referenceCodon_8=CCA;refseq.spliceDist_1=-3041;refseq.spliceDist_2=-3041;refseq.spliceDist_3=-3041;refseq.spliceDist_4=-3041;refseq.spliceDist_5=-3041;refseq.spliceDist_6=-3041;refseq.spliceDist_7=-3041;refseq.spliceDist_8=-3041;refseq.start_1=145064349;refseq.start_2=145064349;refseq.start_3=145064349;refseq.start_4=145064349;refseq.start_5=145064349;refseq.start_6=145064349;refseq.start_7=145064349;refseq.start_8=145064349;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;refseq.variantCodon_6=CCG;refseq.variantCodon_7=CCG;refseq.variantCodon_8=CCG;set=Intersection GT 1/1 chr8 145064850 . A G 121.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=9.84;MQ=95.43;MQ0=0;OQ=2974.38;QD=28.33;RankSumP=1.00000;SB=-1237.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.11208T>C;refseq.codingCoordStr_2=c.11085T>C;refseq.codingCoordStr_3=c.11061T>C;refseq.codingCoordStr_4=c.11538T>C;refseq.codingCoordStr_5=c.11031T>C;refseq.codingCoordStr_6=c.11127T>C;refseq.codingCoordStr_7=c.11139T>C;refseq.codingCoordStr_8=c.11127T>C;refseq.codonCoord_1=3736;refseq.codonCoord_2=3695;refseq.codonCoord_3=3687;refseq.codonCoord_4=3846;refseq.codonCoord_5=3677;refseq.codonCoord_6=3709;refseq.codonCoord_7=3713;refseq.codonCoord_8=3709;refseq.end_1=145064850;refseq.end_2=145064850;refseq.end_3=145064850;refseq.end_4=145064850;refseq.end_5=145064850;refseq.end_6=145064850;refseq.end_7=145064850;refseq.end_8=145064850;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=11257;refseq.mrnaCoord_2=11142;refseq.mrnaCoord_3=11210;refseq.mrnaCoord_4=11708;refseq.mrnaCoord_5=11105;refseq.mrnaCoord_6=11179;refseq.mrnaCoord_7=11148;refseq.mrnaCoord_8=11256;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A3736A;refseq.proteinCoordStr_2=p.A3695A;refseq.proteinCoordStr_3=p.A3687A;refseq.proteinCoordStr_4=p.A3846A;refseq.proteinCoordStr_5=p.A3677A;refseq.proteinCoordStr_6=p.A3709A;refseq.proteinCoordStr_7=p.A3713A;refseq.proteinCoordStr_8=p.A3709A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=-3542;refseq.spliceDist_2=-3542;refseq.spliceDist_3=-3542;refseq.spliceDist_4=-3542;refseq.spliceDist_5=-3542;refseq.spliceDist_6=-3542;refseq.spliceDist_7=-3542;refseq.spliceDist_8=-3542;refseq.start_1=145064850;refseq.start_2=145064850;refseq.start_3=145064850;refseq.start_4=145064850;refseq.start_5=145064850;refseq.start_6=145064850;refseq.start_7=145064850;refseq.start_8=145064850;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145065312 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=723;Dels=0.00;HRun=0;HaplotypeScore=22.75;MQ=98.33;MQ0=0;OQ=27033.15;QD=37.39;RankSumP=1.00000;SB=-11839.86;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.10746G>A;refseq.codingCoordStr_2=c.10623G>A;refseq.codingCoordStr_3=c.10599G>A;refseq.codingCoordStr_4=c.11076G>A;refseq.codingCoordStr_5=c.10569G>A;refseq.codingCoordStr_6=c.10665G>A;refseq.codingCoordStr_7=c.10677G>A;refseq.codingCoordStr_8=c.10665G>A;refseq.codonCoord_1=3582;refseq.codonCoord_2=3541;refseq.codonCoord_3=3533;refseq.codonCoord_4=3692;refseq.codonCoord_5=3523;refseq.codonCoord_6=3555;refseq.codonCoord_7=3559;refseq.codonCoord_8=3555;refseq.end_1=145065312;refseq.end_2=145065312;refseq.end_3=145065312;refseq.end_4=145065312;refseq.end_5=145065312;refseq.end_6=145065312;refseq.end_7=145065312;refseq.end_8=145065312;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=10795;refseq.mrnaCoord_2=10680;refseq.mrnaCoord_3=10748;refseq.mrnaCoord_4=11246;refseq.mrnaCoord_5=10643;refseq.mrnaCoord_6=10717;refseq.mrnaCoord_7=10686;refseq.mrnaCoord_8=10794;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T3582T;refseq.proteinCoordStr_2=p.T3541T;refseq.proteinCoordStr_3=p.T3533T;refseq.proteinCoordStr_4=p.T3692T;refseq.proteinCoordStr_5=p.T3523T;refseq.proteinCoordStr_6=p.T3555T;refseq.proteinCoordStr_7=p.T3559T;refseq.proteinCoordStr_8=p.T3555T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.referenceCodon_8=ACG;refseq.spliceDist_1=3240;refseq.spliceDist_2=3240;refseq.spliceDist_3=3240;refseq.spliceDist_4=3240;refseq.spliceDist_5=3240;refseq.spliceDist_6=3240;refseq.spliceDist_7=3240;refseq.spliceDist_8=3240;refseq.start_1=145065312;refseq.start_2=145065312;refseq.start_3=145065312;refseq.start_4=145065312;refseq.start_5=145065312;refseq.start_6=145065312;refseq.start_7=145065312;refseq.start_8=145065312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;refseq.variantCodon_8=ACA;set=Intersection GT 1/1 chr8 145065365 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=485;Dels=0.00;HRun=1;HaplotypeScore=29.91;MQ=96.93;MQ0=0;OQ=14959.13;QD=30.84;RankSumP=1.00000;SB=-5688.80;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.10693T>C;refseq.codingCoordStr_2=c.10570T>C;refseq.codingCoordStr_3=c.10546T>C;refseq.codingCoordStr_4=c.11023T>C;refseq.codingCoordStr_5=c.10516T>C;refseq.codingCoordStr_6=c.10612T>C;refseq.codingCoordStr_7=c.10624T>C;refseq.codingCoordStr_8=c.10612T>C;refseq.codonCoord_1=3565;refseq.codonCoord_2=3524;refseq.codonCoord_3=3516;refseq.codonCoord_4=3675;refseq.codonCoord_5=3506;refseq.codonCoord_6=3538;refseq.codonCoord_7=3542;refseq.codonCoord_8=3538;refseq.end_1=145065365;refseq.end_2=145065365;refseq.end_3=145065365;refseq.end_4=145065365;refseq.end_5=145065365;refseq.end_6=145065365;refseq.end_7=145065365;refseq.end_8=145065365;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=10742;refseq.mrnaCoord_2=10627;refseq.mrnaCoord_3=10695;refseq.mrnaCoord_4=11193;refseq.mrnaCoord_5=10590;refseq.mrnaCoord_6=10664;refseq.mrnaCoord_7=10633;refseq.mrnaCoord_8=10741;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.L3565L;refseq.proteinCoordStr_2=p.L3524L;refseq.proteinCoordStr_3=p.L3516L;refseq.proteinCoordStr_4=p.L3675L;refseq.proteinCoordStr_5=p.L3506L;refseq.proteinCoordStr_6=p.L3538L;refseq.proteinCoordStr_7=p.L3542L;refseq.proteinCoordStr_8=p.L3538L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_6=TTG;refseq.referenceCodon_7=TTG;refseq.referenceCodon_8=TTG;refseq.spliceDist_1=3187;refseq.spliceDist_2=3187;refseq.spliceDist_3=3187;refseq.spliceDist_4=3187;refseq.spliceDist_5=3187;refseq.spliceDist_6=3187;refseq.spliceDist_7=3187;refseq.spliceDist_8=3187;refseq.start_1=145065365;refseq.start_2=145065365;refseq.start_3=145065365;refseq.start_4=145065365;refseq.start_5=145065365;refseq.start_6=145065365;refseq.start_7=145065365;refseq.start_8=145065365;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantAA_8=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;refseq.variantCodon_7=CTG;refseq.variantCodon_8=CTG;set=Intersection GT 1/1 chr8 145067482 . C T 160.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=16.69;MQ=47.20;MQ0=71;OQ=8041.12;QD=24.67;RankSumP=1.00000;SB=-2926.45;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.8576G>A;refseq.codingCoordStr_2=c.8453G>A;refseq.codingCoordStr_3=c.8429G>A;refseq.codingCoordStr_4=c.8906G>A;refseq.codingCoordStr_5=c.8399G>A;refseq.codingCoordStr_6=c.8495G>A;refseq.codingCoordStr_7=c.8507G>A;refseq.codingCoordStr_8=c.8495G>A;refseq.codonCoord_1=2859;refseq.codonCoord_2=2818;refseq.codonCoord_3=2810;refseq.codonCoord_4=2969;refseq.codonCoord_5=2800;refseq.codonCoord_6=2832;refseq.codonCoord_7=2836;refseq.codonCoord_8=2832;refseq.end_1=145067482;refseq.end_2=145067482;refseq.end_3=145067482;refseq.end_4=145067482;refseq.end_5=145067482;refseq.end_6=145067482;refseq.end_7=145067482;refseq.end_8=145067482;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=8625;refseq.mrnaCoord_2=8510;refseq.mrnaCoord_3=8578;refseq.mrnaCoord_4=9076;refseq.mrnaCoord_5=8473;refseq.mrnaCoord_6=8547;refseq.mrnaCoord_7=8516;refseq.mrnaCoord_8=8624;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.R2859H;refseq.proteinCoordStr_2=p.R2818H;refseq.proteinCoordStr_3=p.R2810H;refseq.proteinCoordStr_4=p.R2969H;refseq.proteinCoordStr_5=p.R2800H;refseq.proteinCoordStr_6=p.R2832H;refseq.proteinCoordStr_7=p.R2836H;refseq.proteinCoordStr_8=p.R2832H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceAA_8=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.referenceCodon_7=CGC;refseq.referenceCodon_8=CGC;refseq.spliceDist_1=1070;refseq.spliceDist_2=1070;refseq.spliceDist_3=1070;refseq.spliceDist_4=1070;refseq.spliceDist_5=1070;refseq.spliceDist_6=1070;refseq.spliceDist_7=1070;refseq.spliceDist_8=1070;refseq.start_1=145067482;refseq.start_2=145067482;refseq.start_3=145067482;refseq.start_4=145067482;refseq.start_5=145067482;refseq.start_6=145067482;refseq.start_7=145067482;refseq.start_8=145067482;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantAA_8=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;refseq.variantCodon_8=CAC;set=Intersection GT 1/1 chr8 145067724 . G A 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=94.74;MQ0=0;OQ=2947.57;QD=28.34;RankSumP=1.00000;SB=-1318.73;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.8334C>T;refseq.codingCoordStr_2=c.8211C>T;refseq.codingCoordStr_3=c.8187C>T;refseq.codingCoordStr_4=c.8664C>T;refseq.codingCoordStr_5=c.8157C>T;refseq.codingCoordStr_6=c.8253C>T;refseq.codingCoordStr_7=c.8265C>T;refseq.codingCoordStr_8=c.8253C>T;refseq.codonCoord_1=2778;refseq.codonCoord_2=2737;refseq.codonCoord_3=2729;refseq.codonCoord_4=2888;refseq.codonCoord_5=2719;refseq.codonCoord_6=2751;refseq.codonCoord_7=2755;refseq.codonCoord_8=2751;refseq.end_1=145067724;refseq.end_2=145067724;refseq.end_3=145067724;refseq.end_4=145067724;refseq.end_5=145067724;refseq.end_6=145067724;refseq.end_7=145067724;refseq.end_8=145067724;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=8383;refseq.mrnaCoord_2=8268;refseq.mrnaCoord_3=8336;refseq.mrnaCoord_4=8834;refseq.mrnaCoord_5=8231;refseq.mrnaCoord_6=8305;refseq.mrnaCoord_7=8274;refseq.mrnaCoord_8=8382;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.N2778N;refseq.proteinCoordStr_2=p.N2737N;refseq.proteinCoordStr_3=p.N2729N;refseq.proteinCoordStr_4=p.N2888N;refseq.proteinCoordStr_5=p.N2719N;refseq.proteinCoordStr_6=p.N2751N;refseq.proteinCoordStr_7=p.N2755N;refseq.proteinCoordStr_8=p.N2751N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceAA_8=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.referenceCodon_7=AAC;refseq.referenceCodon_8=AAC;refseq.spliceDist_1=828;refseq.spliceDist_2=828;refseq.spliceDist_3=828;refseq.spliceDist_4=828;refseq.spliceDist_5=828;refseq.spliceDist_6=828;refseq.spliceDist_7=828;refseq.spliceDist_8=828;refseq.start_1=145067724;refseq.start_2=145067724;refseq.start_3=145067724;refseq.start_4=145067724;refseq.start_5=145067724;refseq.start_6=145067724;refseq.start_7=145067724;refseq.start_8=145067724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;refseq.variantCodon_6=AAT;refseq.variantCodon_7=AAT;refseq.variantCodon_8=AAT;set=Intersection GT 1/1 chr8 145068017 . A G 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=95.91;MQ0=0;OQ=887.02;QD=26.09;RankSumP=1.00000;SB=-310.45;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.8041T>C;refseq.codingCoordStr_2=c.7918T>C;refseq.codingCoordStr_3=c.7894T>C;refseq.codingCoordStr_4=c.8371T>C;refseq.codingCoordStr_5=c.7864T>C;refseq.codingCoordStr_6=c.7960T>C;refseq.codingCoordStr_7=c.7972T>C;refseq.codingCoordStr_8=c.7960T>C;refseq.codonCoord_1=2681;refseq.codonCoord_2=2640;refseq.codonCoord_3=2632;refseq.codonCoord_4=2791;refseq.codonCoord_5=2622;refseq.codonCoord_6=2654;refseq.codonCoord_7=2658;refseq.codonCoord_8=2654;refseq.end_1=145068017;refseq.end_2=145068017;refseq.end_3=145068017;refseq.end_4=145068017;refseq.end_5=145068017;refseq.end_6=145068017;refseq.end_7=145068017;refseq.end_8=145068017;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=8090;refseq.mrnaCoord_2=7975;refseq.mrnaCoord_3=8043;refseq.mrnaCoord_4=8541;refseq.mrnaCoord_5=7938;refseq.mrnaCoord_6=8012;refseq.mrnaCoord_7=7981;refseq.mrnaCoord_8=8089;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S2681P;refseq.proteinCoordStr_2=p.S2640P;refseq.proteinCoordStr_3=p.S2632P;refseq.proteinCoordStr_4=p.S2791P;refseq.proteinCoordStr_5=p.S2622P;refseq.proteinCoordStr_6=p.S2654P;refseq.proteinCoordStr_7=p.S2658P;refseq.proteinCoordStr_8=p.S2654P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.referenceCodon_6=TCA;refseq.referenceCodon_7=TCA;refseq.referenceCodon_8=TCA;refseq.spliceDist_1=535;refseq.spliceDist_2=535;refseq.spliceDist_3=535;refseq.spliceDist_4=535;refseq.spliceDist_5=535;refseq.spliceDist_6=535;refseq.spliceDist_7=535;refseq.spliceDist_8=535;refseq.start_1=145068017;refseq.start_2=145068017;refseq.start_3=145068017;refseq.start_4=145068017;refseq.start_5=145068017;refseq.start_6=145068017;refseq.start_7=145068017;refseq.start_8=145068017;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;refseq.variantCodon_8=CCA;set=Intersection GT 1/1 chr8 145068396 . T G 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=558.30;QD=31.02;RankSumP=1.00000;SB=-87.14;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.7662A>C;refseq.codingCoordStr_2=c.7539A>C;refseq.codingCoordStr_3=c.7515A>C;refseq.codingCoordStr_4=c.7992A>C;refseq.codingCoordStr_5=c.7485A>C;refseq.codingCoordStr_6=c.7581A>C;refseq.codingCoordStr_7=c.7593A>C;refseq.codingCoordStr_8=c.7581A>C;refseq.codonCoord_1=2554;refseq.codonCoord_2=2513;refseq.codonCoord_3=2505;refseq.codonCoord_4=2664;refseq.codonCoord_5=2495;refseq.codonCoord_6=2527;refseq.codonCoord_7=2531;refseq.codonCoord_8=2527;refseq.end_1=145068396;refseq.end_2=145068396;refseq.end_3=145068396;refseq.end_4=145068396;refseq.end_5=145068396;refseq.end_6=145068396;refseq.end_7=145068396;refseq.end_8=145068396;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=7711;refseq.mrnaCoord_2=7596;refseq.mrnaCoord_3=7664;refseq.mrnaCoord_4=8162;refseq.mrnaCoord_5=7559;refseq.mrnaCoord_6=7633;refseq.mrnaCoord_7=7602;refseq.mrnaCoord_8=7710;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A2554A;refseq.proteinCoordStr_2=p.A2513A;refseq.proteinCoordStr_3=p.A2505A;refseq.proteinCoordStr_4=p.A2664A;refseq.proteinCoordStr_5=p.A2495A;refseq.proteinCoordStr_6=p.A2527A;refseq.proteinCoordStr_7=p.A2531A;refseq.proteinCoordStr_8=p.A2527A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.referenceCodon_7=GCA;refseq.referenceCodon_8=GCA;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.spliceDist_3=156;refseq.spliceDist_4=156;refseq.spliceDist_5=156;refseq.spliceDist_6=156;refseq.spliceDist_7=156;refseq.spliceDist_8=156;refseq.start_1=145068396;refseq.start_2=145068396;refseq.start_3=145068396;refseq.start_4=145068396;refseq.start_5=145068396;refseq.start_6=145068396;refseq.start_7=145068396;refseq.start_8=145068396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145069644 . C T 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=94.36;MQ0=0;OQ=1380.00;QD=24.21;RankSumP=1.00000;SB=-501.17;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.6522G>A;refseq.codingCoordStr_2=c.6399G>A;refseq.codingCoordStr_3=c.6375G>A;refseq.codingCoordStr_4=c.6852G>A;refseq.codingCoordStr_5=c.6345G>A;refseq.codingCoordStr_6=c.6441G>A;refseq.codingCoordStr_7=c.6453G>A;refseq.codingCoordStr_8=c.6441G>A;refseq.codonCoord_1=2174;refseq.codonCoord_2=2133;refseq.codonCoord_3=2125;refseq.codonCoord_4=2284;refseq.codonCoord_5=2115;refseq.codonCoord_6=2147;refseq.codonCoord_7=2151;refseq.codonCoord_8=2147;refseq.end_1=145069644;refseq.end_2=145069644;refseq.end_3=145069644;refseq.end_4=145069644;refseq.end_5=145069644;refseq.end_6=145069644;refseq.end_7=145069644;refseq.end_8=145069644;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=6571;refseq.mrnaCoord_2=6456;refseq.mrnaCoord_3=6524;refseq.mrnaCoord_4=7022;refseq.mrnaCoord_5=6419;refseq.mrnaCoord_6=6493;refseq.mrnaCoord_7=6462;refseq.mrnaCoord_8=6570;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A2174A;refseq.proteinCoordStr_2=p.A2133A;refseq.proteinCoordStr_3=p.A2125A;refseq.proteinCoordStr_4=p.A2284A;refseq.proteinCoordStr_5=p.A2115A;refseq.proteinCoordStr_6=p.A2147A;refseq.proteinCoordStr_7=p.A2151A;refseq.proteinCoordStr_8=p.A2147A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_1=-985;refseq.spliceDist_2=-985;refseq.spliceDist_3=-985;refseq.spliceDist_4=-985;refseq.spliceDist_5=-985;refseq.spliceDist_6=-985;refseq.spliceDist_7=-985;refseq.spliceDist_8=-985;refseq.start_1=145069644;refseq.start_2=145069644;refseq.start_3=145069644;refseq.start_4=145069644;refseq.start_5=145069644;refseq.start_6=145069644;refseq.start_7=145069644;refseq.start_8=145069644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;refseq.variantCodon_8=GCA;set=Intersection GT 1/1 chr8 145069915 . G A 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.06;MQ0=0;OQ=339.95;QD=28.33;RankSumP=1.00000;SB=-84.10;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.6251C>T;refseq.codingCoordStr_2=c.6128C>T;refseq.codingCoordStr_3=c.6104C>T;refseq.codingCoordStr_4=c.6581C>T;refseq.codingCoordStr_5=c.6074C>T;refseq.codingCoordStr_6=c.6170C>T;refseq.codingCoordStr_7=c.6182C>T;refseq.codingCoordStr_8=c.6170C>T;refseq.codonCoord_1=2084;refseq.codonCoord_2=2043;refseq.codonCoord_3=2035;refseq.codonCoord_4=2194;refseq.codonCoord_5=2025;refseq.codonCoord_6=2057;refseq.codonCoord_7=2061;refseq.codonCoord_8=2057;refseq.end_1=145069915;refseq.end_2=145069915;refseq.end_3=145069915;refseq.end_4=145069915;refseq.end_5=145069915;refseq.end_6=145069915;refseq.end_7=145069915;refseq.end_8=145069915;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=6300;refseq.mrnaCoord_2=6185;refseq.mrnaCoord_3=6253;refseq.mrnaCoord_4=6751;refseq.mrnaCoord_5=6148;refseq.mrnaCoord_6=6222;refseq.mrnaCoord_7=6191;refseq.mrnaCoord_8=6299;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A2084V;refseq.proteinCoordStr_2=p.A2043V;refseq.proteinCoordStr_3=p.A2035V;refseq.proteinCoordStr_4=p.A2194V;refseq.proteinCoordStr_5=p.A2025V;refseq.proteinCoordStr_6=p.A2057V;refseq.proteinCoordStr_7=p.A2061V;refseq.proteinCoordStr_8=p.A2057V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_1=-1256;refseq.spliceDist_2=-1256;refseq.spliceDist_3=-1256;refseq.spliceDist_4=-1256;refseq.spliceDist_5=-1256;refseq.spliceDist_6=-1256;refseq.spliceDist_7=-1256;refseq.spliceDist_8=-1256;refseq.start_1=145069915;refseq.start_2=145069915;refseq.start_3=145069915;refseq.start_4=145069915;refseq.start_5=145069915;refseq.start_6=145069915;refseq.start_7=145069915;refseq.start_8=145069915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;refseq.variantCodon_6=GTG;refseq.variantCodon_7=GTG;refseq.variantCodon_8=GTG;set=filterInsoap-gatk GT 1/1 chr8 145070157 . C T 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.50;MQ0=0;OQ=405.35;QD=28.95;RankSumP=1.00000;SB=-49.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.6009G>A;refseq.codingCoordStr_2=c.5886G>A;refseq.codingCoordStr_3=c.5862G>A;refseq.codingCoordStr_4=c.6339G>A;refseq.codingCoordStr_5=c.5832G>A;refseq.codingCoordStr_6=c.5928G>A;refseq.codingCoordStr_7=c.5940G>A;refseq.codingCoordStr_8=c.5928G>A;refseq.codonCoord_1=2003;refseq.codonCoord_2=1962;refseq.codonCoord_3=1954;refseq.codonCoord_4=2113;refseq.codonCoord_5=1944;refseq.codonCoord_6=1976;refseq.codonCoord_7=1980;refseq.codonCoord_8=1976;refseq.end_1=145070157;refseq.end_2=145070157;refseq.end_3=145070157;refseq.end_4=145070157;refseq.end_5=145070157;refseq.end_6=145070157;refseq.end_7=145070157;refseq.end_8=145070157;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=6058;refseq.mrnaCoord_2=5943;refseq.mrnaCoord_3=6011;refseq.mrnaCoord_4=6509;refseq.mrnaCoord_5=5906;refseq.mrnaCoord_6=5980;refseq.mrnaCoord_7=5949;refseq.mrnaCoord_8=6057;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A2003A;refseq.proteinCoordStr_2=p.A1962A;refseq.proteinCoordStr_3=p.A1954A;refseq.proteinCoordStr_4=p.A2113A;refseq.proteinCoordStr_5=p.A1944A;refseq.proteinCoordStr_6=p.A1976A;refseq.proteinCoordStr_7=p.A1980A;refseq.proteinCoordStr_8=p.A1976A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_1=-1498;refseq.spliceDist_2=-1498;refseq.spliceDist_3=-1498;refseq.spliceDist_4=-1498;refseq.spliceDist_5=-1498;refseq.spliceDist_6=-1498;refseq.spliceDist_7=-1498;refseq.spliceDist_8=-1498;refseq.start_1=145070157;refseq.start_2=145070157;refseq.start_3=145070157;refseq.start_4=145070157;refseq.start_5=145070157;refseq.start_6=145070157;refseq.start_7=145070157;refseq.start_8=145070157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;refseq.variantCodon_8=GCA;set=Intersection GT 1/1 chr8 145070178 . A G 26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.32;MQ0=0;OQ=432.03;QD=24.00;RankSumP=1.00000;SB=-93.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.5988T>C;refseq.codingCoordStr_2=c.5865T>C;refseq.codingCoordStr_3=c.5841T>C;refseq.codingCoordStr_4=c.6318T>C;refseq.codingCoordStr_5=c.5811T>C;refseq.codingCoordStr_6=c.5907T>C;refseq.codingCoordStr_7=c.5919T>C;refseq.codingCoordStr_8=c.5907T>C;refseq.codonCoord_1=1996;refseq.codonCoord_2=1955;refseq.codonCoord_3=1947;refseq.codonCoord_4=2106;refseq.codonCoord_5=1937;refseq.codonCoord_6=1969;refseq.codonCoord_7=1973;refseq.codonCoord_8=1969;refseq.end_1=145070178;refseq.end_2=145070178;refseq.end_3=145070178;refseq.end_4=145070178;refseq.end_5=145070178;refseq.end_6=145070178;refseq.end_7=145070178;refseq.end_8=145070178;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=6037;refseq.mrnaCoord_2=5922;refseq.mrnaCoord_3=5990;refseq.mrnaCoord_4=6488;refseq.mrnaCoord_5=5885;refseq.mrnaCoord_6=5959;refseq.mrnaCoord_7=5928;refseq.mrnaCoord_8=6036;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A1996A;refseq.proteinCoordStr_2=p.A1955A;refseq.proteinCoordStr_3=p.A1947A;refseq.proteinCoordStr_4=p.A2106A;refseq.proteinCoordStr_5=p.A1937A;refseq.proteinCoordStr_6=p.A1969A;refseq.proteinCoordStr_7=p.A1973A;refseq.proteinCoordStr_8=p.A1969A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=-1519;refseq.spliceDist_2=-1519;refseq.spliceDist_3=-1519;refseq.spliceDist_4=-1519;refseq.spliceDist_5=-1519;refseq.spliceDist_6=-1519;refseq.spliceDist_7=-1519;refseq.spliceDist_8=-1519;refseq.start_1=145070178;refseq.start_2=145070178;refseq.start_3=145070178;refseq.start_4=145070178;refseq.start_5=145070178;refseq.start_6=145070178;refseq.start_7=145070178;refseq.start_8=145070178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145071405 . C T 114.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=93.10;MQ0=0;OQ=847.35;QD=31.38;RankSumP=1.00000;SB=-365.99;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.4761G>A;refseq.codingCoordStr_2=c.4638G>A;refseq.codingCoordStr_3=c.4614G>A;refseq.codingCoordStr_4=c.5091G>A;refseq.codingCoordStr_5=c.4584G>A;refseq.codingCoordStr_6=c.4680G>A;refseq.codingCoordStr_7=c.4692G>A;refseq.codingCoordStr_8=c.4680G>A;refseq.codonCoord_1=1587;refseq.codonCoord_2=1546;refseq.codonCoord_3=1538;refseq.codonCoord_4=1697;refseq.codonCoord_5=1528;refseq.codonCoord_6=1560;refseq.codonCoord_7=1564;refseq.codonCoord_8=1560;refseq.end_1=145071405;refseq.end_2=145071405;refseq.end_3=145071405;refseq.end_4=145071405;refseq.end_5=145071405;refseq.end_6=145071405;refseq.end_7=145071405;refseq.end_8=145071405;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=4810;refseq.mrnaCoord_2=4695;refseq.mrnaCoord_3=4763;refseq.mrnaCoord_4=5261;refseq.mrnaCoord_5=4658;refseq.mrnaCoord_6=4732;refseq.mrnaCoord_7=4701;refseq.mrnaCoord_8=4809;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A1587A;refseq.proteinCoordStr_2=p.A1546A;refseq.proteinCoordStr_3=p.A1538A;refseq.proteinCoordStr_4=p.A1697A;refseq.proteinCoordStr_5=p.A1528A;refseq.proteinCoordStr_6=p.A1560A;refseq.proteinCoordStr_7=p.A1564A;refseq.proteinCoordStr_8=p.A1560A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_1=636;refseq.spliceDist_2=636;refseq.spliceDist_3=636;refseq.spliceDist_4=636;refseq.spliceDist_5=636;refseq.spliceDist_6=636;refseq.spliceDist_7=636;refseq.spliceDist_8=636;refseq.start_1=145071405;refseq.start_2=145071405;refseq.start_3=145071405;refseq.start_4=145071405;refseq.start_5=145071405;refseq.start_6=145071405;refseq.start_7=145071405;refseq.start_8=145071405;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;refseq.variantCodon_8=GCA;set=Intersection GT 1/1 chr8 145071609 . C T 209.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.57;MQ0=0;OQ=1182.68;QD=35.84;RankSumP=1.00000;SB=-355.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.4557G>A;refseq.codingCoordStr_2=c.4434G>A;refseq.codingCoordStr_3=c.4410G>A;refseq.codingCoordStr_4=c.4887G>A;refseq.codingCoordStr_5=c.4380G>A;refseq.codingCoordStr_6=c.4476G>A;refseq.codingCoordStr_7=c.4488G>A;refseq.codingCoordStr_8=c.4476G>A;refseq.codonCoord_1=1519;refseq.codonCoord_2=1478;refseq.codonCoord_3=1470;refseq.codonCoord_4=1629;refseq.codonCoord_5=1460;refseq.codonCoord_6=1492;refseq.codonCoord_7=1496;refseq.codonCoord_8=1492;refseq.end_1=145071609;refseq.end_2=145071609;refseq.end_3=145071609;refseq.end_4=145071609;refseq.end_5=145071609;refseq.end_6=145071609;refseq.end_7=145071609;refseq.end_8=145071609;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=4606;refseq.mrnaCoord_2=4491;refseq.mrnaCoord_3=4559;refseq.mrnaCoord_4=5057;refseq.mrnaCoord_5=4454;refseq.mrnaCoord_6=4528;refseq.mrnaCoord_7=4497;refseq.mrnaCoord_8=4605;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A1519A;refseq.proteinCoordStr_2=p.A1478A;refseq.proteinCoordStr_3=p.A1470A;refseq.proteinCoordStr_4=p.A1629A;refseq.proteinCoordStr_5=p.A1460A;refseq.proteinCoordStr_6=p.A1492A;refseq.proteinCoordStr_7=p.A1496A;refseq.proteinCoordStr_8=p.A1492A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_1=432;refseq.spliceDist_2=432;refseq.spliceDist_3=432;refseq.spliceDist_4=432;refseq.spliceDist_5=432;refseq.spliceDist_6=432;refseq.spliceDist_7=432;refseq.spliceDist_8=432;refseq.start_1=145071609;refseq.start_2=145071609;refseq.start_3=145071609;refseq.start_4=145071609;refseq.start_5=145071609;refseq.start_6=145071609;refseq.start_7=145071609;refseq.start_8=145071609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;refseq.variantCodon_8=GCA;set=Intersection GT 1/1 chr8 145071630 . A C 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=96.12;MQ0=0;OQ=1058.00;QD=27.13;RankSumP=1.00000;SB=-312.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.4536T>G;refseq.codingCoordStr_2=c.4413T>G;refseq.codingCoordStr_3=c.4389T>G;refseq.codingCoordStr_4=c.4866T>G;refseq.codingCoordStr_5=c.4359T>G;refseq.codingCoordStr_6=c.4455T>G;refseq.codingCoordStr_7=c.4467T>G;refseq.codingCoordStr_8=c.4455T>G;refseq.codonCoord_1=1512;refseq.codonCoord_2=1471;refseq.codonCoord_3=1463;refseq.codonCoord_4=1622;refseq.codonCoord_5=1453;refseq.codonCoord_6=1485;refseq.codonCoord_7=1489;refseq.codonCoord_8=1485;refseq.end_1=145071630;refseq.end_2=145071630;refseq.end_3=145071630;refseq.end_4=145071630;refseq.end_5=145071630;refseq.end_6=145071630;refseq.end_7=145071630;refseq.end_8=145071630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=4585;refseq.mrnaCoord_2=4470;refseq.mrnaCoord_3=4538;refseq.mrnaCoord_4=5036;refseq.mrnaCoord_5=4433;refseq.mrnaCoord_6=4507;refseq.mrnaCoord_7=4476;refseq.mrnaCoord_8=4584;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A1512A;refseq.proteinCoordStr_2=p.A1471A;refseq.proteinCoordStr_3=p.A1463A;refseq.proteinCoordStr_4=p.A1622A;refseq.proteinCoordStr_5=p.A1453A;refseq.proteinCoordStr_6=p.A1485A;refseq.proteinCoordStr_7=p.A1489A;refseq.proteinCoordStr_8=p.A1485A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=411;refseq.spliceDist_2=411;refseq.spliceDist_3=411;refseq.spliceDist_4=411;refseq.spliceDist_5=411;refseq.spliceDist_6=411;refseq.spliceDist_7=411;refseq.spliceDist_8=411;refseq.start_1=145071630;refseq.start_2=145071630;refseq.start_3=145071630;refseq.start_4=145071630;refseq.start_5=145071630;refseq.start_6=145071630;refseq.start_7=145071630;refseq.start_8=145071630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;refseq.variantCodon_6=GCG;refseq.variantCodon_7=GCG;refseq.variantCodon_8=GCG;set=Intersection GT 1/1 chr8 145071672 . A G 47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=3.34;MQ=97.43;MQ0=0;OQ=691.30;QD=23.84;RankSumP=1.00000;SB=-70.90;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.4494T>C;refseq.codingCoordStr_2=c.4371T>C;refseq.codingCoordStr_3=c.4347T>C;refseq.codingCoordStr_4=c.4824T>C;refseq.codingCoordStr_5=c.4317T>C;refseq.codingCoordStr_6=c.4413T>C;refseq.codingCoordStr_7=c.4425T>C;refseq.codingCoordStr_8=c.4413T>C;refseq.codonCoord_1=1498;refseq.codonCoord_2=1457;refseq.codonCoord_3=1449;refseq.codonCoord_4=1608;refseq.codonCoord_5=1439;refseq.codonCoord_6=1471;refseq.codonCoord_7=1475;refseq.codonCoord_8=1471;refseq.end_1=145071672;refseq.end_2=145071672;refseq.end_3=145071672;refseq.end_4=145071672;refseq.end_5=145071672;refseq.end_6=145071672;refseq.end_7=145071672;refseq.end_8=145071672;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=4543;refseq.mrnaCoord_2=4428;refseq.mrnaCoord_3=4496;refseq.mrnaCoord_4=4994;refseq.mrnaCoord_5=4391;refseq.mrnaCoord_6=4465;refseq.mrnaCoord_7=4434;refseq.mrnaCoord_8=4542;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A1498A;refseq.proteinCoordStr_2=p.A1457A;refseq.proteinCoordStr_3=p.A1449A;refseq.proteinCoordStr_4=p.A1608A;refseq.proteinCoordStr_5=p.A1439A;refseq.proteinCoordStr_6=p.A1471A;refseq.proteinCoordStr_7=p.A1475A;refseq.proteinCoordStr_8=p.A1471A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=369;refseq.spliceDist_2=369;refseq.spliceDist_3=369;refseq.spliceDist_4=369;refseq.spliceDist_5=369;refseq.spliceDist_6=369;refseq.spliceDist_7=369;refseq.spliceDist_8=369;refseq.start_1=145071672;refseq.start_2=145071672;refseq.start_3=145071672;refseq.start_4=145071672;refseq.start_5=145071672;refseq.start_6=145071672;refseq.start_7=145071672;refseq.start_8=145071672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145073019 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=98.05;MQ0=0;OQ=2134.72;QD=27.72;RankSumP=1.00000;SB=-283.78;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.4046A>G;refseq.codingCoordStr_2=c.3923A>G;refseq.codingCoordStr_3=c.3899A>G;refseq.codingCoordStr_4=c.4376A>G;refseq.codingCoordStr_5=c.3869A>G;refseq.codingCoordStr_6=c.3965A>G;refseq.codingCoordStr_7=c.3977A>G;refseq.codingCoordStr_8=c.3965A>G;refseq.codonCoord_1=1349;refseq.codonCoord_2=1308;refseq.codonCoord_3=1300;refseq.codonCoord_4=1459;refseq.codonCoord_5=1290;refseq.codonCoord_6=1322;refseq.codonCoord_7=1326;refseq.codonCoord_8=1322;refseq.end_1=145073019;refseq.end_2=145073019;refseq.end_3=145073019;refseq.end_4=145073019;refseq.end_5=145073019;refseq.end_6=145073019;refseq.end_7=145073019;refseq.end_8=145073019;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=4095;refseq.mrnaCoord_2=3980;refseq.mrnaCoord_3=4048;refseq.mrnaCoord_4=4546;refseq.mrnaCoord_5=3943;refseq.mrnaCoord_6=4017;refseq.mrnaCoord_7=3986;refseq.mrnaCoord_8=4094;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.H1349R;refseq.proteinCoordStr_2=p.H1308R;refseq.proteinCoordStr_3=p.H1300R;refseq.proteinCoordStr_4=p.H1459R;refseq.proteinCoordStr_5=p.H1290R;refseq.proteinCoordStr_6=p.H1322R;refseq.proteinCoordStr_7=p.H1326R;refseq.proteinCoordStr_8=p.H1322R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceAA_7=His;refseq.referenceAA_8=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.referenceCodon_5=CAC;refseq.referenceCodon_6=CAC;refseq.referenceCodon_7=CAC;refseq.referenceCodon_8=CAC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.spliceDist_5=20;refseq.spliceDist_6=20;refseq.spliceDist_7=20;refseq.spliceDist_8=20;refseq.start_1=145073019;refseq.start_2=145073019;refseq.start_3=145073019;refseq.start_4=145073019;refseq.start_5=145073019;refseq.start_6=145073019;refseq.start_7=145073019;refseq.start_8=145073019;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;refseq.variantCodon_6=CGC;refseq.variantCodon_7=CGC;refseq.variantCodon_8=CGC;set=Intersection GT 1/1 chr8 145073576 . C T 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=95.03;MQ0=0;OQ=1304.09;QD=28.35;RankSumP=1.00000;SB=-256.33;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.3827G>A;refseq.codingCoordStr_2=c.3704G>A;refseq.codingCoordStr_3=c.3680G>A;refseq.codingCoordStr_4=c.4157G>A;refseq.codingCoordStr_5=c.3650G>A;refseq.codingCoordStr_6=c.3746G>A;refseq.codingCoordStr_7=c.3758G>A;refseq.codingCoordStr_8=c.3746G>A;refseq.codonCoord_1=1276;refseq.codonCoord_2=1235;refseq.codonCoord_3=1227;refseq.codonCoord_4=1386;refseq.codonCoord_5=1217;refseq.codonCoord_6=1249;refseq.codonCoord_7=1253;refseq.codonCoord_8=1249;refseq.end_1=145073576;refseq.end_2=145073576;refseq.end_3=145073576;refseq.end_4=145073576;refseq.end_5=145073576;refseq.end_6=145073576;refseq.end_7=145073576;refseq.end_8=145073576;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=3876;refseq.mrnaCoord_2=3761;refseq.mrnaCoord_3=3829;refseq.mrnaCoord_4=4327;refseq.mrnaCoord_5=3724;refseq.mrnaCoord_6=3798;refseq.mrnaCoord_7=3767;refseq.mrnaCoord_8=3875;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.R1276Q;refseq.proteinCoordStr_2=p.R1235Q;refseq.proteinCoordStr_3=p.R1227Q;refseq.proteinCoordStr_4=p.R1386Q;refseq.proteinCoordStr_5=p.R1217Q;refseq.proteinCoordStr_6=p.R1249Q;refseq.proteinCoordStr_7=p.R1253Q;refseq.proteinCoordStr_8=p.R1249Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceAA_8=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.referenceCodon_5=CGG;refseq.referenceCodon_6=CGG;refseq.referenceCodon_7=CGG;refseq.referenceCodon_8=CGG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.spliceDist_4=-11;refseq.spliceDist_5=-11;refseq.spliceDist_6=-11;refseq.spliceDist_7=-11;refseq.spliceDist_8=-11;refseq.start_1=145073576;refseq.start_2=145073576;refseq.start_3=145073576;refseq.start_4=145073576;refseq.start_5=145073576;refseq.start_6=145073576;refseq.start_7=145073576;refseq.start_8=145073576;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantAA_8=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_6=CAG;refseq.variantCodon_7=CAG;refseq.variantCodon_8=CAG;set=Intersection GT 1/1 chr8 145073772 . A G 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.11;MQ0=0;OQ=517.62;QD=28.76;RankSumP=1.00000;SB=-268.76;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.3631T>C;refseq.codingCoordStr_2=c.3508T>C;refseq.codingCoordStr_3=c.3484T>C;refseq.codingCoordStr_4=c.3961T>C;refseq.codingCoordStr_5=c.3454T>C;refseq.codingCoordStr_6=c.3550T>C;refseq.codingCoordStr_7=c.3562T>C;refseq.codingCoordStr_8=c.3550T>C;refseq.codonCoord_1=1211;refseq.codonCoord_2=1170;refseq.codonCoord_3=1162;refseq.codonCoord_4=1321;refseq.codonCoord_5=1152;refseq.codonCoord_6=1184;refseq.codonCoord_7=1188;refseq.codonCoord_8=1184;refseq.end_1=145073772;refseq.end_2=145073772;refseq.end_3=145073772;refseq.end_4=145073772;refseq.end_5=145073772;refseq.end_6=145073772;refseq.end_7=145073772;refseq.end_8=145073772;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=3680;refseq.mrnaCoord_2=3565;refseq.mrnaCoord_3=3633;refseq.mrnaCoord_4=4131;refseq.mrnaCoord_5=3528;refseq.mrnaCoord_6=3602;refseq.mrnaCoord_7=3571;refseq.mrnaCoord_8=3679;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.L1211L;refseq.proteinCoordStr_2=p.L1170L;refseq.proteinCoordStr_3=p.L1162L;refseq.proteinCoordStr_4=p.L1321L;refseq.proteinCoordStr_5=p.L1152L;refseq.proteinCoordStr_6=p.L1184L;refseq.proteinCoordStr_7=p.L1188L;refseq.proteinCoordStr_8=p.L1184L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_6=TTG;refseq.referenceCodon_7=TTG;refseq.referenceCodon_8=TTG;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.spliceDist_3=151;refseq.spliceDist_4=151;refseq.spliceDist_5=151;refseq.spliceDist_6=151;refseq.spliceDist_7=151;refseq.spliceDist_8=151;refseq.start_1=145073772;refseq.start_2=145073772;refseq.start_3=145073772;refseq.start_4=145073772;refseq.start_5=145073772;refseq.start_6=145073772;refseq.start_7=145073772;refseq.start_8=145073772;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantAA_8=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;refseq.variantCodon_7=CTG;refseq.variantCodon_8=CTG;set=Intersection GT 1/1 chr8 145079175 . G A 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=98.78;MQ0=0;OQ=724.75;QD=27.87;RankSumP=1.00000;SB=-199.33;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.1592C>T;refseq.codingCoordStr_2=c.1469C>T;refseq.codingCoordStr_3=c.1445C>T;refseq.codingCoordStr_4=c.1922C>T;refseq.codingCoordStr_5=c.1415C>T;refseq.codingCoordStr_6=c.1511C>T;refseq.codingCoordStr_7=c.1523C>T;refseq.codingCoordStr_8=c.1511C>T;refseq.codonCoord_1=531;refseq.codonCoord_2=490;refseq.codonCoord_3=482;refseq.codonCoord_4=641;refseq.codonCoord_5=472;refseq.codonCoord_6=504;refseq.codonCoord_7=508;refseq.codonCoord_8=504;refseq.end_1=145079175;refseq.end_2=145079175;refseq.end_3=145079175;refseq.end_4=145079175;refseq.end_5=145079175;refseq.end_6=145079175;refseq.end_7=145079175;refseq.end_8=145079175;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1641;refseq.mrnaCoord_2=1526;refseq.mrnaCoord_3=1594;refseq.mrnaCoord_4=2092;refseq.mrnaCoord_5=1489;refseq.mrnaCoord_6=1563;refseq.mrnaCoord_7=1532;refseq.mrnaCoord_8=1640;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A531V;refseq.proteinCoordStr_2=p.A490V;refseq.proteinCoordStr_3=p.A482V;refseq.proteinCoordStr_4=p.A641V;refseq.proteinCoordStr_5=p.A472V;refseq.proteinCoordStr_6=p.A504V;refseq.proteinCoordStr_7=p.A508V;refseq.proteinCoordStr_8=p.A504V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.referenceCodon_8=GCC;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.spliceDist_3=93;refseq.spliceDist_4=93;refseq.spliceDist_5=93;refseq.spliceDist_6=93;refseq.spliceDist_7=93;refseq.spliceDist_8=93;refseq.start_1=145079175;refseq.start_2=145079175;refseq.start_3=145079175;refseq.start_4=145079175;refseq.start_5=145079175;refseq.start_6=145079175;refseq.start_7=145079175;refseq.start_8=145079175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;refseq.variantCodon_8=GTC;set=Intersection GT 1/1 chr8 145080548 . A G 101.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.16;MQ0=0;OQ=2691.55;QD=30.59;RankSumP=1.00000;SB=-822.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.1176T>C;refseq.codingCoordStr_2=c.1053T>C;refseq.codingCoordStr_3=c.1029T>C;refseq.codingCoordStr_4=c.1506T>C;refseq.codingCoordStr_5=c.999T>C;refseq.codingCoordStr_6=c.1095T>C;refseq.codingCoordStr_7=c.1107T>C;refseq.codingCoordStr_8=c.1095T>C;refseq.codonCoord_1=392;refseq.codonCoord_2=351;refseq.codonCoord_3=343;refseq.codonCoord_4=502;refseq.codonCoord_5=333;refseq.codonCoord_6=365;refseq.codonCoord_7=369;refseq.codonCoord_8=365;refseq.end_1=145080548;refseq.end_2=145080548;refseq.end_3=145080548;refseq.end_4=145080548;refseq.end_5=145080548;refseq.end_6=145080548;refseq.end_7=145080548;refseq.end_8=145080548;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1225;refseq.mrnaCoord_2=1110;refseq.mrnaCoord_3=1178;refseq.mrnaCoord_4=1676;refseq.mrnaCoord_5=1073;refseq.mrnaCoord_6=1147;refseq.mrnaCoord_7=1116;refseq.mrnaCoord_8=1224;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.D392D;refseq.proteinCoordStr_2=p.D351D;refseq.proteinCoordStr_3=p.D343D;refseq.proteinCoordStr_4=p.D502D;refseq.proteinCoordStr_5=p.D333D;refseq.proteinCoordStr_6=p.D365D;refseq.proteinCoordStr_7=p.D369D;refseq.proteinCoordStr_8=p.D365D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceAA_8=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.referenceCodon_6=GAT;refseq.referenceCodon_7=GAT;refseq.referenceCodon_8=GAT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.spliceDist_5=54;refseq.spliceDist_6=54;refseq.spliceDist_7=54;refseq.spliceDist_8=54;refseq.start_1=145080548;refseq.start_2=145080548;refseq.start_3=145080548;refseq.start_4=145080548;refseq.start_5=145080548;refseq.start_6=145080548;refseq.start_7=145080548;refseq.start_8=145080548;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantAA_7=Asp;refseq.variantAA_8=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;refseq.variantCodon_7=GAC;refseq.variantCodon_8=GAC;set=Intersection GT 1/1 chr8 145083192 . A G 320.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.57;MQ0=0;OQ=6245.64;QD=37.85;RankSumP=1.00000;SB=-2604.17;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.chr_4=chr8;refseq.chr_5=chr8;refseq.chr_6=chr8;refseq.chr_7=chr8;refseq.chr_8=chr8;refseq.codingCoordStr_1=c.459T>C;refseq.codingCoordStr_2=c.336T>C;refseq.codingCoordStr_3=c.312T>C;refseq.codingCoordStr_4=c.789T>C;refseq.codingCoordStr_5=c.282T>C;refseq.codingCoordStr_6=c.378T>C;refseq.codingCoordStr_7=c.390T>C;refseq.codingCoordStr_8=c.378T>C;refseq.codonCoord_1=153;refseq.codonCoord_2=112;refseq.codonCoord_3=104;refseq.codonCoord_4=263;refseq.codonCoord_5=94;refseq.codonCoord_6=126;refseq.codonCoord_7=130;refseq.codonCoord_8=126;refseq.end_1=145083192;refseq.end_2=145083192;refseq.end_3=145083192;refseq.end_4=145083192;refseq.end_5=145083192;refseq.end_6=145083192;refseq.end_7=145083192;refseq.end_8=145083192;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=508;refseq.mrnaCoord_2=393;refseq.mrnaCoord_3=461;refseq.mrnaCoord_4=959;refseq.mrnaCoord_5=356;refseq.mrnaCoord_6=430;refseq.mrnaCoord_7=399;refseq.mrnaCoord_8=507;refseq.name2_1=PLEC;refseq.name2_2=PLEC;refseq.name2_3=PLEC;refseq.name2_4=PLEC;refseq.name2_5=PLEC;refseq.name2_6=PLEC;refseq.name2_7=PLEC;refseq.name2_8=PLEC;refseq.name_1=NM_000445;refseq.name_2=NM_201378;refseq.name_3=NM_201379;refseq.name_4=NM_201380;refseq.name_5=NM_201381;refseq.name_6=NM_201382;refseq.name_7=NM_201383;refseq.name_8=NM_201384;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A153A;refseq.proteinCoordStr_2=p.A112A;refseq.proteinCoordStr_3=p.A104A;refseq.proteinCoordStr_4=p.A263A;refseq.proteinCoordStr_5=p.A94A;refseq.proteinCoordStr_6=p.A126A;refseq.proteinCoordStr_7=p.A130A;refseq.proteinCoordStr_8=p.A126A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.spliceDist_5=36;refseq.spliceDist_6=36;refseq.spliceDist_7=36;refseq.spliceDist_8=36;refseq.start_1=145083192;refseq.start_2=145083192;refseq.start_3=145083192;refseq.start_4=145083192;refseq.start_5=145083192;refseq.start_6=145083192;refseq.start_7=145083192;refseq.start_8=145083192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;set=Intersection GT 1/1 chr8 145121460 . C G 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=7.21850e-09;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.66G>C;refseq.codonCoord=22;refseq.end=145121460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=115;refseq.name=NM_000445;refseq.name2=PLEC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S22S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=72;refseq.start=145121460;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr8 145129856 . A G 70.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=97.91;MQ0=0;OQ=504.37;QD=22.93;RankSumP=1.00000;SB=-227.76;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1889T>C;refseq.codonCoord=630;refseq.end=145129856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1997;refseq.name=NM_032789;refseq.name2=PARP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V630A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=112;refseq.start=145129856;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr8 145130974 . A G 239.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=1228.93;QD=37.24;RankSumP=1.00000;SB=-580.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1184T>C;refseq.codonCoord=395;refseq.end=145130974;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_032789;refseq.name2=PARP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L395P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-275;refseq.start=145130974;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr8 145131413 . T C 273.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.94;MQ0=0;OQ=2929.84;QD=32.55;RankSumP=1.00000;SB=-728.95;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.745A>G;refseq.codonCoord=249;refseq.end=145131413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_032789;refseq.name2=PARP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I249V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=72;refseq.start=145131413;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr8 145132100 . G A 195.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.14;MQ0=0;OQ=714.38;QD=35.72;RankSumP=1.00000;SB=-290.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.213C>T;refseq.codonCoord=71;refseq.end=145132100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_032789;refseq.name2=PARP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H71H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=32;refseq.start=145132100;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr8 145132360 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=4;RankSumP=0.00141313;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.32T>G;refseq.codonCoord=11;refseq.end=145132360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_032789;refseq.name2=PARP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V11G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=30;refseq.start=145132360;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr8 145138874 . A G 261.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=4.43;MQ=98.81;MQ0=0;OQ=7866.86;QD=38.75;RankSumP=1.00000;SB=-3679.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.993A>G;refseq.codingCoordStr_2=c.993A>G;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=145138874;refseq.end_2=145138874;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1271;refseq.mrnaCoord_2=1159;refseq.name2_1=GRINA;refseq.name2_2=GRINA;refseq.name_1=NM_000837;refseq.name_2=NM_001009184;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L331L;refseq.proteinCoordStr_2=p.L331L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=145138874;refseq.start_2=145138874;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr8 145168151 . T G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=5.62829e-09;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.1337T>G;refseq.codonCoord_2=446;refseq.end_1=145173505;refseq.end_2=145168151;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1439;refseq.name2_1=SPATC1;refseq.name2_2=SPATC1;refseq.name_1=NM_001134374;refseq.name_2=NM_198572;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V446G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=31;refseq.start_1=145168007;refseq.start_2=145168151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr8 145222820 . A G 111.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=98.16;MQ0=0;OQ=2869.49;QD=24.74;RankSumP=1.00000;SB=-1256.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.226A>G;refseq.codonCoord=76;refseq.end=145222820;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_001916;refseq.name2=CYC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M76V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=97;refseq.start=145222820;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr8 145226245 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=3.01;MQ=98.50;MQ0=0;OQ=1507.96;QD=15.08;RankSumP=0.0318401;SB=-640.12;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.845G>C;refseq.codonCoord=282;refseq.end=145226245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_030974;refseq.name2=SHARPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S282T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=77;refseq.start=145226245;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr8 145230491 . G T 19.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=121.33;QD=24.27;RankSumP=1.00000;SB=-81.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.154C>A;refseq.codonCoord=52;refseq.end=145230491;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_030974;refseq.name2=SHARPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R52R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-48;refseq.start=145230491;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr8 145232634 . T C 185.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=2.67;MQ=98.60;MQ0=0;OQ=10940.80;QD=36.47;RankSumP=1.00000;SB=-5005.63;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.60T>C;refseq.codonCoord=20;refseq.end=145232634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_032272;refseq.name2=MAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-24;refseq.start=145232634;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr8 145232659 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr8;refseq.codingCoordStr=c.83+2;refseq.end=145232659;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_032272;refseq.name2=MAF1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=145232659;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr8 145233811 . G A 58.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=126.88;QD=31.72;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.706G>A;refseq.codonCoord=236;refseq.end=145233811;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1207;refseq.name=NM_032272;refseq.name2=MAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G236R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-44;refseq.start=145233811;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr8 145512176 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.902T>G;refseq.codonCoord=301;refseq.end=145512176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_012079;refseq.name2=DGAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V301G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=145512176;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr8 145512574 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.169257;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.743C>A;refseq.codonCoord=248;refseq.end=145512574;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_012079;refseq.name2=DGAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T248N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=145512574;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr8 145512829 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.561958;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.579C>T;refseq.codonCoord=193;refseq.end=145512829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_012079;refseq.name2=DGAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G193G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=145512829;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap GT 1/0 chr8 145520912 . G A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.196C>T;refseq.codonCoord=66;refseq.end=145520912;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_012079;refseq.name2=DGAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L66L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=145520912;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr8 145550836 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=195;Dels=0.00;HRun=2;HaplotypeScore=10.11;MQ=97.18;MQ0=0;OQ=2454.57;QD=12.59;RankSumP=0.0134922;SB=-1057.61;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1157T>C;refseq.codingCoordStr_2=c.1139T>C;refseq.codonCoord_1=386;refseq.codonCoord_2=380;refseq.end_1=145550836;refseq.end_2=145550836;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1164;refseq.name2_1=FBXL6;refseq.name2_2=FBXL6;refseq.name_1=NM_012162;refseq.name_2=NM_024555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L386P;refseq.proteinCoordStr_2=p.L380P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.start_1=145550836;refseq.start_2=145550836;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr8 145550969 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=9.50490e-08;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1024C>G;refseq.codingCoordStr_2=c.1006C>G;refseq.codonCoord_1=342;refseq.codonCoord_2=336;refseq.end_1=145550969;refseq.end_2=145550969;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1049;refseq.mrnaCoord_2=1031;refseq.name2_1=FBXL6;refseq.name2_2=FBXL6;refseq.name_1=NM_012162;refseq.name_2=NM_024555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P342A;refseq.proteinCoordStr_2=p.P336A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=145550969;refseq.start_2=145550969;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr8 145573922 . A C 305.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=98.99;MQ0=0;OQ=2593.44;QD=16.31;RankSumP=0.227847;SB=-1040.57;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.51A>C;refseq.codonCoord=17;refseq.end=145573922;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=105;refseq.name=NM_174922;refseq.name2=ADCK5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R17S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=39;refseq.start=145573922;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr8 145594771 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=637;Dels=0.00;HRun=0;HaplotypeScore=37.06;MQ=98.48;MQ0=0;OQ=12268.46;QD=19.26;RankSumP=0.241425;SB=-3965.91;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1704C>T;refseq.codonCoord=568;refseq.end=145594771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1779;refseq.name=NM_013291;refseq.name2=CPSF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D568D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-49;refseq.start=145594771;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr8 145596346 . C G 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.17;MQ0=0;OQ=105.75;QD=15.11;RankSumP=0.266667;SB=-10.00;SecondBestBaseQ=34;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.end_1=145596357;refseq.end_2=145596346;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=22;refseq.name2_1=CPSF1;refseq.name2_2=MIR1234;refseq.name_1=NM_013291;refseq.name_2=NR_031600;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=22;refseq.start_1=145596294;refseq.start_2=145596346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr8 145610534 . T C 163.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.19;MQ=98.10;MQ0=0;OQ=961.85;QD=22.90;RankSumP=1.00000;SB=-419.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.994A>G;refseq.codingCoordStr_2=c.1069A>G;refseq.codonCoord_1=332;refseq.codonCoord_2=357;refseq.end_1=145610534;refseq.end_2=145610534;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1169;refseq.name2_1=SLC39A4;refseq.name2_2=SLC39A4;refseq.name_1=NM_017767;refseq.name_2=NM_130849;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T332A;refseq.proteinCoordStr_2=p.T357A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=145610534;refseq.start_2=145610534;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr8 145611030 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.788T>G;refseq.codingCoordStr_2=c.863T>G;refseq.codonCoord_1=263;refseq.codonCoord_2=288;refseq.end_1=145611030;refseq.end_2=145611030;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=963;refseq.name2_1=SLC39A4;refseq.name2_2=SLC39A4;refseq.name_1=NM_017767;refseq.name_2=NM_130849;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V263G;refseq.proteinCoordStr_2=p.V288G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=145611030;refseq.start_2=145611030;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr8 145611219 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=99.00;MQ0=0;OQ=688.50;QD=10.93;RankSumP=0.0620047;SB=-136.64;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.676T>C;refseq.codingCoordStr_2=c.751T>C;refseq.codonCoord_1=226;refseq.codonCoord_2=251;refseq.end_1=145611219;refseq.end_2=145611219;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1001;refseq.mrnaCoord_2=851;refseq.name2_1=SLC39A4;refseq.name2_2=SLC39A4;refseq.name_1=NM_017767;refseq.name_2=NM_130849;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W226R;refseq.proteinCoordStr_2=p.W251R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=145611219;refseq.start_2=145611219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr8 145612136 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=97.73;MQ0=0;OQ=305.26;QD=9.25;RankSumP=0.607582;SB=-89.58;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.265G>A;refseq.codingCoordStr_2=c.340G>A;refseq.codonCoord_1=89;refseq.codonCoord_2=114;refseq.end_1=145612136;refseq.end_2=145612136;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=440;refseq.name2_1=SLC39A4;refseq.name2_2=SLC39A4;refseq.name_1=NM_017767;refseq.name_2=NM_130849;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A89T;refseq.proteinCoordStr_2=p.A114T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-135;refseq.spliceDist_2=-135;refseq.start_1=145612136;refseq.start_2=145612136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr8 145612372 . T G 179.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=99.00;MQ0=0;OQ=435.52;QD=15.55;RankSumP=0.689681;SB=-222.94;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_2=c.29A>C;refseq.codonCoord_2=10;refseq.end_1=145612779;refseq.end_2=145612372;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=354;refseq.name2_1=SLC39A4;refseq.name2_2=SLC39A4;refseq.name_1=NM_130849;refseq.name_2=NM_017767;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E10A;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=354;refseq.start_1=145612294;refseq.start_2=145612372;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr8 145612810 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=97.63;MQ0=0;OQ=240.79;QD=10.03;RankSumP=0.662378;SB=-120.96;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.172G>A;refseq.codonCoord=58;refseq.end=145612810;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_130849;refseq.name2=SLC39A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A58T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-21;refseq.start=145612810;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr8 145621227 . G C 31.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.15;RankSumP=0.200000;SB=-39.43;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.210C>G;refseq.codingCoordStr_2=c.210C>G;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=145621227;refseq.end_2=145621227;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=300;refseq.name2_1=VPS28;refseq.name2_2=VPS28;refseq.name_1=NM_016208;refseq.name_2=NM_183057;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C70W;refseq.proteinCoordStr_2=p.C70W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=145621227;refseq.start_2=145621227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr8 145632128 . G A 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=123.83;QD=7.28;RankSumP=0.675712;SB=-6.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.2496C>T;refseq.codonCoord=832;refseq.end=145632128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2511;refseq.name=NM_013432;refseq.name2=NFKBIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A832A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-280;refseq.start=145632128;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr8 145632483 . G A 179.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=449.20;QD=18.72;RankSumP=0.211437;SB=-160.17;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.2141C>T;refseq.codonCoord=714;refseq.end=145632483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2156;refseq.name=NM_013432;refseq.name2=NFKBIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A714V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=127;refseq.start=145632483;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr8 145636215 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=343.50;QD=14.93;RankSumP=0.552011;SB=-136.58;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1477G>A;refseq.codonCoord=493;refseq.end=145636215;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1492;refseq.name=NM_013432;refseq.name2=NFKBIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G493S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=145636215;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr8 145636324 . T C 243.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=97.29;MQ0=0;OQ=1145.91;QD=32.74;RankSumP=1.00000;SB=-297.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1368A>G;refseq.codonCoord=456;refseq.end=145636324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_013432;refseq.name2=NFKBIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L456L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=78;refseq.start=145636324;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr8 145636569 . G A 162.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=98.98;MQ0=0;OQ=888.10;QD=20.65;RankSumP=0.621467;SB=-121.62;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.1263C>T;refseq.codonCoord=421;refseq.end=145636569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1278;refseq.name=NM_013432;refseq.name2=NFKBIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A421A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-28;refseq.start=145636569;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr8 145660447 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.450C>G;refseq.codingCoordStr_3=c.450C>G;refseq.codonCoord_2=150;refseq.codonCoord_3=150;refseq.end_1=145660640;refseq.end_2=145660447;refseq.end_3=145660447;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=723;refseq.mrnaCoord_3=759;refseq.name2_1=CYHR1;refseq.name2_2=CYHR1;refseq.name2_3=CYHR1;refseq.name_1=NM_138496;refseq.name_2=NM_001129888;refseq.name_3=NM_032687;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G150G;refseq.proteinCoordStr_3=p.G150G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_2=357;refseq.spliceDist_3=357;refseq.start_1=145649662;refseq.start_2=145660447;refseq.start_3=145660447;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr8 145660585 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00905581;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_2=c.312C>G;refseq.codingCoordStr_3=c.312C>G;refseq.codonCoord_2=104;refseq.codonCoord_3=104;refseq.end_1=145660640;refseq.end_2=145660585;refseq.end_3=145660585;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=585;refseq.mrnaCoord_3=621;refseq.name2_1=CYHR1;refseq.name2_2=CYHR1;refseq.name2_3=CYHR1;refseq.name_1=NM_138496;refseq.name_2=NM_001129888;refseq.name_3=NM_032687;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G104G;refseq.proteinCoordStr_3=p.G104G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_2=219;refseq.spliceDist_3=219;refseq.start_1=145649662;refseq.start_2=145660585;refseq.start_3=145660585;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr8 145660723 . G A 226.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=1391.05;QD=39.74;RankSumP=1.00000;SB=-171.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.chr_3=chr8;refseq.codingCoordStr_1=c.174C>T;refseq.codingCoordStr_2=c.174C>T;refseq.codingCoordStr_3=c.174C>T;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.codonCoord_3=58;refseq.end_1=145660723;refseq.end_2=145660723;refseq.end_3=145660723;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=447;refseq.mrnaCoord_2=483;refseq.mrnaCoord_3=308;refseq.name2_1=CYHR1;refseq.name2_2=CYHR1;refseq.name2_3=CYHR1;refseq.name_1=NM_001129888;refseq.name_2=NM_032687;refseq.name_3=NM_138496;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H58H;refseq.proteinCoordStr_2=p.H58H;refseq.proteinCoordStr_3=p.H58H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.spliceDist_3=-73;refseq.start_1=145660723;refseq.start_2=145660723;refseq.start_3=145660723;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr8 145663193 . C T 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.82;MQ0=0;OQ=546.05;QD=24.82;RankSumP=1.00000;SB=-162.21;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.222C>T;refseq.codonCoord=74;refseq.end=145663193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_145754;refseq.name2=KIFC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G74G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=44;refseq.start=145663193;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr8 145664528 . A G 120.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=97.74;MQ0=0;OQ=2493.24;QD=32.38;RankSumP=1.00000;SB=-1074.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.819A>G;refseq.codonCoord=273;refseq.end=145664528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=884;refseq.name=NM_145754;refseq.name2=KIFC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A273A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=145664528;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr8 145700535 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=98.86;MQ0=0;OQ=1657.18;QD=12.37;RankSumP=0.247768;SB=-800.91;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.40C>A;refseq.codonCoord=14;refseq.end=145700535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_005309;refseq.name2=GPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.H14N;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-123;refseq.start=145700535;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr8 145715990 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=191;Dels=0.00;HRun=3;HaplotypeScore=12.45;MQ=98.69;MQ0=0;OQ=5725.41;QD=29.98;RankSumP=1.00000;SB=-1326.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.73T>C;refseq.codonCoord=25;refseq.end=145715990;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_014665;refseq.name2=LRRC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L25L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=184;refseq.start=145715990;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr8 145718728 . T G 28.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=91.92;MQ0=0;QD=4.02;RankSumP=0.600000;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.chr_1=chr8;refseq.chr_2=chr8;refseq.codingCoordStr_1=c.1481A>C;refseq.codingCoordStr_2=c.*1058T>G;refseq.codonCoord_1=494;refseq.end_1=145718728;refseq.end_2=145718728;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1613;refseq.mrnaCoord_2=2686;refseq.name2_1=LRRC24;refseq.name2_2=LRRC14;refseq.name_1=NM_001024678;refseq.name_2=NM_014665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.E494A;refseq.referenceAA_1=Glu;refseq.referenceCodon_1=GAA;refseq.spliceDist_1=-159;refseq.spliceDist_2=1626;refseq.start_1=145718728;refseq.start_2=145718728;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCA;set=soap-filterIngatk GT 1/0 chr8 145723708 . C T 12.11 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=6.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.477G>A;refseq.codonCoord=159;refseq.end=145723708;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_001001795;refseq.name2=MGC70857;refseq.positionType=CDS;refseq.proteinCoordStr=p.P159P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=272;refseq.start=145723708;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/1 chr8 145726726 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.3233G>C;refseq.codonCoord=1078;refseq.end=145726726;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3788;refseq.name=NM_025251;refseq.name2=KIAA1688;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1078P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=83;refseq.start=145726726;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr8 145726978 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.69;MQ0=0;OQ=1468.70;QD=21.60;RankSumP=0.390355;SB=-488.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr8;refseq.codingCoordStr=c.3066C>T;refseq.codonCoord=1022;refseq.end=145726978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3621;refseq.name=NM_025251;refseq.name2=KIAA1688;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1022D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-85;refseq.start=145726978;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr8 145801780 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.28A>G;refseq.codonCoord=10;refseq.end=145801780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_025251;refseq.name2=KIAA1688;refseq.positionType=CDS;refseq.proteinCoordStr=p.R10G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-53;refseq.start=145801780;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr8 146004151 . T C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=296.42;QD=29.64;RankSumP=1.00000;SB=-153.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr8;refseq.codingCoordStr=c.1046T>C;refseq.codonCoord=349;refseq.end=146004151;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1153;refseq.name=NM_213605;refseq.name2=ZNF517;refseq.positionType=CDS;refseq.proteinCoordStr=p.V349A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=772;refseq.start=146004151;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 106881 . A T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1239T>A;refseq.codonCoord=413;refseq.end=106881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1537;refseq.name=NM_207305;refseq.name2=FOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P413P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-647;refseq.start=106881;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr9 107020 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1100G>A;refseq.codonCoord=367;refseq.end=107020;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1398;refseq.name=NM_207305;refseq.name2=FOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R367Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-786;refseq.start=107020;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/1 chr9 107360 . G T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.600000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.760C>A;refseq.codonCoord=254;refseq.end=107360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_207305;refseq.name2=FOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R254S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=1058;refseq.start=107360;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr9 107713 . T C 9 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=517;Dels=0.00;HRun=1;HaplotypeScore=25.28;MQ=26.41;MQ0=293;OQ=505.63;QD=0.98;RankSumP=0.200000;SB=74.27;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.407A>G;refseq.codonCoord=136;refseq.end=107713;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_207305;refseq.name2=FOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D136G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=705;refseq.start=107713;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr9 107998 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=257;Dels=0.00;HRun=0;HaplotypeScore=58.11;MQ=73.53;MQ0=66;OQ=2010.39;QD=7.82;RankSumP=0.135353;SB=-691.33;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.122C>A;refseq.codonCoord=41;refseq.end=107998;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_207305;refseq.name2=FOXD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41E;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=420;refseq.start=107998;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 0/1 chr9 144719 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.576567;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.544A>G;refseq.codingCoordStr_2=c.652A>G;refseq.codingCoordStr_3=c.652A>G;refseq.codonCoord_1=182;refseq.codonCoord_2=218;refseq.codonCoord_3=218;refseq.end_1=144719;refseq.end_2=144719;refseq.end_3=144719;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=856;refseq.mrnaCoord_2=758;refseq.mrnaCoord_3=758;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T182A;refseq.proteinCoordStr_2=p.T218A;refseq.proteinCoordStr_3=p.T218A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=144719;refseq.start_2=144719;refseq.start_3=144719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=soap GT 1/0 chr9 144752 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.239957;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.511C>T;refseq.codingCoordStr_2=c.619C>T;refseq.codingCoordStr_3=c.619C>T;refseq.codonCoord_1=171;refseq.codonCoord_2=207;refseq.codonCoord_3=207;refseq.end_1=144752;refseq.end_2=144752;refseq.end_3=144752;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=823;refseq.mrnaCoord_2=725;refseq.mrnaCoord_3=725;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L171L;refseq.proteinCoordStr_2=p.L207L;refseq.proteinCoordStr_3=p.L207L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=144752;refseq.start_2=144752;refseq.start_3=144752;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=soap GT 1/0 chr9 144795 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=13.10;MQ0=145;OQ=1407.56;QD=7.57;RankSumP=1.00000;SB=-52.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.468A>G;refseq.codingCoordStr_2=c.576A>G;refseq.codingCoordStr_3=c.576A>G;refseq.codonCoord_1=156;refseq.codonCoord_2=192;refseq.codonCoord_3=192;refseq.end_1=144795;refseq.end_2=144795;refseq.end_3=144795;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=780;refseq.mrnaCoord_2=682;refseq.mrnaCoord_3=682;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R156R;refseq.proteinCoordStr_2=p.R192R;refseq.proteinCoordStr_3=p.R192R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=144795;refseq.start_2=144795;refseq.start_3=144795;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr9 153985 . A G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.702407;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.375T>C;refseq.codingCoordStr_2=c.483T>C;refseq.codingCoordStr_3=c.483T>C;refseq.codonCoord_1=125;refseq.codonCoord_2=161;refseq.codonCoord_3=161;refseq.end_1=153985;refseq.end_2=153985;refseq.end_3=153985;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=687;refseq.mrnaCoord_2=589;refseq.mrnaCoord_3=589;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y125Y;refseq.proteinCoordStr_2=p.Y161Y;refseq.proteinCoordStr_3=p.Y161Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=153985;refseq.start_2=153985;refseq.start_3=153985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=soap GT 0/1 chr9 168903 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.666667;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.-140G>T;refseq.codingCoordStr_2=c.67G>T;refseq.codingCoordStr_3=c.67G>T;refseq.codonCoord_2=23;refseq.codonCoord_3=23;refseq.end_1=168903;refseq.end_2=168903;refseq.end_3=168903;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=173;refseq.mrnaCoord_2=173;refseq.mrnaCoord_3=173;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V23F;refseq.proteinCoordStr_3=p.V23F;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=168903;refseq.start_2=168903;refseq.start_3=168903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr9 168904 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.666667;SecondBestBaseQ=25;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.-141G>T;refseq.codingCoordStr_2=c.66G>T;refseq.codingCoordStr_3=c.66G>T;refseq.codonCoord_2=22;refseq.codonCoord_3=22;refseq.end_1=168904;refseq.end_2=168904;refseq.end_3=168904;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=172;refseq.mrnaCoord_2=172;refseq.mrnaCoord_3=172;refseq.name2_1=CBWD1;refseq.name2_2=CBWD1;refseq.name2_3=CBWD1;refseq.name_1=NM_001145355;refseq.name_2=NM_001145356;refseq.name_3=NM_018491;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L22F;refseq.proteinCoordStr_3=p.L22F;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.spliceDist_3=-89;refseq.start_1=168904;refseq.start_2=168904;refseq.start_3=168904;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr9 204706 . G C 32.93 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.70;RankSumP=0.571429;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.691C>G;refseq.codonCoord=231;refseq.end=204706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1188;refseq.name=NM_152569;refseq.name2=C9orf66;refseq.positionType=CDS;refseq.proteinCoordStr=p.R231G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1188;refseq.start=204706;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr9 204804 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.58;MQ0=0;OQ=486.71;QD=13.91;RankSumP=0.699507;SB=-72.33;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.593T>C;refseq.codonCoord=198;refseq.end=204804;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1090;refseq.name=NM_152569;refseq.name2=C9orf66;refseq.positionType=CDS;refseq.proteinCoordStr=p.V198A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1090;refseq.start=204804;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr9 204864 . C T 209.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.82;MQ0=0;OQ=1341.72;QD=16.36;RankSumP=0.106883;SB=-402.08;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.533G>A;refseq.codonCoord=178;refseq.end=204864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_152569;refseq.name2=C9orf66;refseq.positionType=CDS;refseq.proteinCoordStr=p.R178Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1030;refseq.start=204864;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr9 302124 . T C 101.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.78;MQ0=0;OQ=1633.11;QD=12.66;RankSumP=0.373124;SB=-802.48;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.699T>C;refseq.codonCoord=233;refseq.end=302124;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N233N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-43;refseq.start=302124;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr9 324337 . A G 357.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=6.39;MQ=98.46;MQ0=0;OQ=6732.76;QD=20.78;RankSumP=0.379178;SB=-2035.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1238A>G;refseq.codonCoord=413;refseq.end=324337;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N413S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-48;refseq.start=324337;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr9 360244 . A G 305.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.96;MQ0=0;OQ=5281.84;QD=22.01;RankSumP=0.231802;SB=-1715.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1812A>G;refseq.codonCoord=604;refseq.end=360244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1924;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K604K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=15;refseq.start=360244;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr9 367111 . G C 262.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=8.07;MQ=97.47;MQ0=0;OQ=1506.70;QD=16.74;RankSumP=0.478731;SB=-614.69;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2340G>C;refseq.codonCoord=780;refseq.end=367111;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2452;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L780L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-101;refseq.start=367111;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr9 380512 . C T 188.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.84;MQ0=0;OQ=18711.65;QD=43.72;RankSumP=1.00000;SB=-8265.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2916C>T;refseq.codonCoord=972;refseq.end=380512;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3028;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T972T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=42;refseq.start=380512;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr9 386835 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=662;Dels=0.00;HRun=1;HaplotypeScore=12.20;MQ=98.82;MQ0=0;OQ=14738.03;QD=22.26;RankSumP=0.446425;SB=-5296.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3021T>C;refseq.codonCoord=1007;refseq.end=386835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3133;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1007F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=51;refseq.start=386835;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr9 411032 . C G 334.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.89;MQ0=0;OQ=2682.34;QD=17.76;RankSumP=0.166331;SB=-1152.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4107C>G;refseq.codonCoord=1369;refseq.end=411032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4219;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1369L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-47;refseq.start=411032;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr9 419719 . T C 130.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=421;Dels=0.00;HRun=0;HaplotypeScore=9.10;MQ=98.92;MQ0=0;OQ=16341.14;QD=38.82;RankSumP=1.00000;SB=-8106.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4491T>C;refseq.codonCoord=1497;refseq.end=419719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4603;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1497F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=18;refseq.start=419719;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr9 431952 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=18.40;MQ=98.77;MQ0=0;OQ=6895.01;QD=21.22;RankSumP=0.262694;SB=-2542.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.5433G>A;refseq.codonCoord=1811;refseq.end=431952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5545;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1811E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-58;refseq.start=431952;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr9 453655 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=159;Dels=0.00;HRun=2;HaplotypeScore=16.24;MQ=97.73;MQ0=0;OQ=157.16;QD=0.99;RankSumP=0.00000;SB=233.79;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.6207C>A;refseq.codonCoord=2069;refseq.end=453655;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6319;refseq.name=NM_203447;refseq.name2=DOCK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2069*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-33;refseq.start=453655;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr9 702060 . G C 268.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.91;MQ0=0;OQ=7428.98;QD=23.22;RankSumP=0.0179603;SB=-2885.10;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1294G>C;refseq.codingCoordStr_2=c.820G>C;refseq.codonCoord_1=432;refseq.codonCoord_2=274;refseq.end_1=702060;refseq.end_2=702060;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1429;refseq.mrnaCoord_2=1609;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E432Q;refseq.proteinCoordStr_2=p.E274Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1257;refseq.spliceDist_2=1257;refseq.start_1=702060;refseq.start_2=702060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr9 702599 . C T 290.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.80;MQ0=0;OQ=4752.69;QD=19.56;RankSumP=0.214497;SB=-803.76;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1833C>T;refseq.codingCoordStr_2=c.1359C>T;refseq.codonCoord_1=611;refseq.codonCoord_2=453;refseq.end_1=702599;refseq.end_2=702599;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1968;refseq.mrnaCoord_2=2148;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N611N;refseq.proteinCoordStr_2=p.N453N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-866;refseq.spliceDist_2=-866;refseq.start_1=702599;refseq.start_2=702599;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr9 720054 . A G 212.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.01;MQ0=0;OQ=1808.99;QD=17.74;RankSumP=0.442792;SB=-260.25;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2702A>G;refseq.codingCoordStr_2=c.2228A>G;refseq.codonCoord_1=901;refseq.codonCoord_2=743;refseq.end_1=720054;refseq.end_2=720054;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2837;refseq.mrnaCoord_2=3017;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N901S;refseq.proteinCoordStr_2=p.N743S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=720054;refseq.start_2=720054;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr9 728434 . C T 255.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=98.66;MQ0=0;OQ=7461.09;QD=15.38;RankSumP=0.00846339;SB=-2500.94;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3483C>T;refseq.codingCoordStr_2=c.3009C>T;refseq.codonCoord_1=1161;refseq.codonCoord_2=1003;refseq.end_1=728434;refseq.end_2=728434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3618;refseq.mrnaCoord_2=3798;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1161N;refseq.proteinCoordStr_2=p.N1003N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=728434;refseq.start_2=728434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=filterInsoap-gatk GT 0/1 chr9 730901 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=6.15;MQ=97.12;MQ0=0;OQ=5251.56;QD=21.26;RankSumP=0.414677;SB=-708.16;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3663C>T;refseq.codingCoordStr_2=c.3189C>T;refseq.codonCoord_1=1221;refseq.codonCoord_2=1063;refseq.end_1=730901;refseq.end_2=730901;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3798;refseq.mrnaCoord_2=3978;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F1221F;refseq.proteinCoordStr_2=p.F1063F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=730901;refseq.start_2=730901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr9 732342 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=191;Dels=0.00;HRun=2;HaplotypeScore=15.64;MQ=98.23;MQ0=0;OQ=7083.02;QD=37.08;RankSumP=1.00000;SB=-3221.23;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3834A>G;refseq.codingCoordStr_2=c.3360A>G;refseq.codonCoord_1=1278;refseq.codonCoord_2=1120;refseq.end_1=732342;refseq.end_2=732342;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3969;refseq.mrnaCoord_2=4149;refseq.name2_1=KANK1;refseq.name2_2=KANK1;refseq.name_1=NM_015158;refseq.name_2=NM_153186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1278G;refseq.proteinCoordStr_2=p.G1120G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=732342;refseq.start_2=732342;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr9 831971 . T A 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.74;MQ0=0;OQ=115.01;QD=11.50;RankSumP=0.273810;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.133T>A;refseq.codonCoord=45;refseq.end=831971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_021951;refseq.name2=DMRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45T;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-222;refseq.start=831971;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 884197 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=216;Dels=0.00;HRun=2;HaplotypeScore=13.85;MQ=98.48;MQ0=0;OQ=104.00;QD=0.48;RankSumP=0.00000;SB=333.05;SecondBestBaseQ=7;refseq.chr=chr9;refseq.codingCoordStr=c.822+2;refseq.end=884197;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_021951;refseq.name2=DMRT1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=884197;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr9 967312 . T C 43.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.06;MQ0=0;QD=10.76;RankSumP=0.400000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.311T>C;refseq.codonCoord=104;refseq.end=967312;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_021240;refseq.name2=DMRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V104A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-144;refseq.start=967312;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr9 967439 . G A 10.67 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=95.19;MQ0=0;QD=0.76;SB=-23.59;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.438G>A;refseq.codonCoord=146;refseq.end=967439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_021240;refseq.name2=DMRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A146A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-17;refseq.start=967439;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:12,2:12:-7.93,-3.61,-35.91:43.11 chr9 980840 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=2;HaplotypeScore=10.71;MQ=98.24;MQ0=0;OQ=4666.94;QD=20.83;RankSumP=0.148391;SB=-1270.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1254C>T;refseq.codonCoord=418;refseq.end=980840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_021240;refseq.name2=DMRT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V418V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=800;refseq.start=980840;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr9 1046398 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=1933.21;QD=17.74;RankSumP=0.324035;SB=-482.30;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.*208C>G;refseq.codingCoordStr_2=c.*624C>G;refseq.codingCoordStr_3=c.811C>G;refseq.codonCoord_3=271;refseq.end_1=1046398;refseq.end_2=1046398;refseq.end_3=1046398;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1218;refseq.mrnaCoord_2=1779;refseq.mrnaCoord_3=1011;refseq.name2_1=DMRT2;refseq.name2_2=DMRT2;refseq.name2_3=DMRT2;refseq.name_1=NM_001130865;refseq.name_2=NM_006557;refseq.name_3=NM_181872;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P271A;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=183;refseq.spliceDist_2=677;refseq.spliceDist_3=183;refseq.start_1=1046398;refseq.start_2=1046398;refseq.start_3=1046398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr9 1046732 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=391;Dels=0.00;HRun=1;HaplotypeScore=8.56;MQ=98.77;MQ0=0;OQ=7008.97;QD=17.93;RankSumP=0.341081;SB=-2751.71;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.*542G>A;refseq.codingCoordStr_2=c.*958G>A;refseq.codingCoordStr_3=c.1145G>A;refseq.codonCoord_3=382;refseq.end_1=1046732;refseq.end_2=1046732;refseq.end_3=1046732;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1552;refseq.mrnaCoord_2=2113;refseq.mrnaCoord_3=1345;refseq.name2_1=DMRT2;refseq.name2_2=DMRT2;refseq.name2_3=DMRT2;refseq.name_1=NM_001130865;refseq.name_2=NM_006557;refseq.name_3=NM_181872;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R382Q;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=517;refseq.spliceDist_2=-822;refseq.spliceDist_3=517;refseq.start_1=1046732;refseq.start_2=1046732;refseq.start_3=1046732;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gln;refseq.variantCodon_3=CAA;set=Intersection GT 1/0 chr9 1046959 . G C 269.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=98.65;MQ0=0;OQ=8439.50;QD=23.12;RankSumP=0.299006;SB=-2848.24;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.*769G>C;refseq.codingCoordStr_2=c.*1185G>C;refseq.codingCoordStr_3=c.1372G>C;refseq.codonCoord_3=458;refseq.end_1=1046959;refseq.end_2=1046959;refseq.end_3=1046959;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1779;refseq.mrnaCoord_2=2340;refseq.mrnaCoord_3=1572;refseq.name2_1=DMRT2;refseq.name2_2=DMRT2;refseq.name2_3=DMRT2;refseq.name_1=NM_001130865;refseq.name_2=NM_006557;refseq.name_3=NM_181872;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E458Q;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-595;refseq.spliceDist_2=-595;refseq.spliceDist_3=-595;refseq.start_1=1046959;refseq.start_2=1046959;refseq.start_3=1046959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gln;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr9 2019199 . G A 333.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=3.56;MQ=98.70;MQ0=0;OQ=6938.06;QD=42.56;RankSumP=1.00000;SB=-3105.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.177G>A;refseq.codingCoordStr_2=c.177G>A;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=2019199;refseq.end_2=2019199;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=276;refseq.mrnaCoord_2=276;refseq.name2_1=SMARCA2;refseq.name2_2=SMARCA2;refseq.name_1=NM_003070;refseq.name_2=NM_139045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T59T;refseq.proteinCoordStr_2=p.T59T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=2019199;refseq.start_2=2019199;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr9 2086706 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=553;Dels=0.00;HRun=1;HaplotypeScore=15.01;MQ=98.84;MQ0=0;OQ=10666.29;QD=19.29;RankSumP=0.427822;SB=-3987.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2933A>T;refseq.codingCoordStr_2=c.2933A>T;refseq.codonCoord_1=978;refseq.codonCoord_2=978;refseq.end_1=2086706;refseq.end_2=2086706;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3032;refseq.mrnaCoord_2=3032;refseq.name2_1=SMARCA2;refseq.name2_2=SMARCA2;refseq.name_1=NM_003070;refseq.name_2=NM_139045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y978F;refseq.proteinCoordStr_2=p.Y978F;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=2086706;refseq.start_2=2086706;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr9 2707922 . C G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2927.44;QD=47.22;RankSumP=1.00000;SB=-866.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.183C>G;refseq.codonCoord=61;refseq.end=2707922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_133497;refseq.name2=KCNV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G61G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=397;refseq.start=2707922;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 2708534 . C G 382.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=97.66;MQ0=0;OQ=1482.36;QD=40.06;RankSumP=1.00000;SB=-625.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.795C>G;refseq.codonCoord=265;refseq.end=2708534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_133497;refseq.name2=KCNV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A265A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-562;refseq.start=2708534;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 3283246 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.562T>G;refseq.codingCoordStr_2=c.562T>G;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.end_1=3283246;refseq.end_2=3283246;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=874;refseq.mrnaCoord_2=874;refseq.name2_1=RFX3;refseq.name2_2=RFX3;refseq.name_1=NM_002919;refseq.name_2=NM_134428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L188V;refseq.proteinCoordStr_2=p.L188V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=3283246;refseq.start_2=3283246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr9 4107933 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=196;Dels=0.00;HRun=0;HaplotypeScore=13.87;MQ=97.93;MQ0=0;OQ=4154.31;QD=21.20;RankSumP=0.458153;SB=-1683.74;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1545G>C;refseq.codingCoordStr_2=c.1080G>C;refseq.codonCoord_1=515;refseq.codonCoord_2=360;refseq.end_1=4107933;refseq.end_2=4107933;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2258;refseq.mrnaCoord_2=1274;refseq.name2_1=GLIS3;refseq.name2_2=GLIS3;refseq.name_1=NM_001042413;refseq.name_2=NM_152629;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E515D;refseq.proteinCoordStr_2=p.E360D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-166;refseq.spliceDist_2=-166;refseq.start_1=4107933;refseq.start_2=4107933;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr9 4108111 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.18;MQ0=0;OQ=200.23;QD=11.78;RankSumP=0.306294;SB=-73.86;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1367C>A;refseq.codingCoordStr_2=c.902C>A;refseq.codonCoord_1=456;refseq.codonCoord_2=301;refseq.end_1=4108111;refseq.end_2=4108111;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2080;refseq.mrnaCoord_2=1096;refseq.name2_1=GLIS3;refseq.name2_2=GLIS3;refseq.name_1=NM_001042413;refseq.name_2=NM_152629;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P456Q;refseq.proteinCoordStr_2=p.P301Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-344;refseq.spliceDist_2=-344;refseq.start_1=4108111;refseq.start_2=4108111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr9 4108208 . A G 72.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=97.56;MQ0=0;OQ=945.16;QD=31.51;RankSumP=1.00000;SB=-440.51;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1270T>C;refseq.codingCoordStr_2=c.805T>C;refseq.codonCoord_1=424;refseq.codonCoord_2=269;refseq.end_1=4108208;refseq.end_2=4108208;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=999;refseq.name2_1=GLIS3;refseq.name2_2=GLIS3;refseq.name_1=NM_001042413;refseq.name_2=NM_152629;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S424P;refseq.proteinCoordStr_2=p.S269P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-441;refseq.spliceDist_2=-441;refseq.start_1=4108208;refseq.start_2=4108208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr9 4480760 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=88;Dels=0.00;HRun=1;HaplotypeScore=4.69;MQ=98.90;MQ0=0;OQ=835.20;QD=9.49;RankSumP=0.0204469;SB=-293.14;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.81G>C;refseq.codonCoord=27;refseq.end=4480760;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_004170;refseq.name2=SLC1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A27A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-11;refseq.start=4480760;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr9 4566680 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1852.37;QD=15.06;RankSumP=0.275866;SB=-488.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1110T>C;refseq.codonCoord=370;refseq.end=4566680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_004170;refseq.name2=SLC1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T370T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-84;refseq.start=4566680;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr9 4652394 . A G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=96.65;MQ0=0;OQ=103.36;QD=9.40;RankSumP=0.726190;SB=-71.32;SecondBestBaseQ=25;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.19A>G;refseq.codonCoord_2=7;refseq.end_1=4656201;refseq.end_2=4652394;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=97;refseq.name2_1=C9orf68;refseq.name2_2=PPAPDC2;refseq.name_1=NM_001039395;refseq.name_2=NM_203453;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S7G;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=97;refseq.start_1=4652047;refseq.start_2=4652394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr9 4653252 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=810;Dels=0.00;HRun=0;HaplotypeScore=14.24;MQ=98.80;MQ0=0;OQ=15289.96;QD=18.88;RankSumP=0.00435109;SB=-6381.72;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.877A>C;refseq.codonCoord_2=293;refseq.end_1=4656201;refseq.end_2=4653252;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=955;refseq.name2_1=C9orf68;refseq.name2_2=PPAPDC2;refseq.name_1=NM_001039395;refseq.name_2=NM_203453;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S293R;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=955;refseq.start_1=4652047;refseq.start_2=4653252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=filterInsoap-gatk GT 0/1 chr9 5539463 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.490A>C;refseq.codonCoord=164;refseq.end=5539463;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_025239;refseq.name2=PDCD1LG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T164P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=129;refseq.start=5539463;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 5547672 . T C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=677;Dels=0.00;HRun=1;HaplotypeScore=21.39;MQ=98.42;MQ0=0;OQ=27697.66;QD=40.91;RankSumP=1.00000;SB=-9089.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.686T>C;refseq.codonCoord=229;refseq.end=5547672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_025239;refseq.name2=PDCD1LG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F229S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=55;refseq.start=5547672;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr9 5764225 . T G 287.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=5517.91;QD=17.30;RankSumP=0.100717;SB=-1776.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4014T>G;refseq.codonCoord=1338;refseq.end=5764225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4107;refseq.name=NM_020829;refseq.name2=KIAA1432;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1338T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=268;refseq.start=5764225;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 5822719 . G C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=96.26;MQ0=0;OQ=123.41;QD=8.82;RankSumP=0.344456;SB=-55.91;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.309C>G;refseq.codonCoord=103;refseq.end=5822719;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_024896;refseq.name2=ERMP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H103Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-30;refseq.start=5822719;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr9 5822728 . G C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=95.79;MQ0=0;OQ=121.32;QD=10.11;RankSumP=0.528361;SB=-50.44;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.300C>G;refseq.codonCoord=100;refseq.end=5822728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_024896;refseq.name2=ERMP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A100A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-39;refseq.start=5822728;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr9 5887614 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.135T>G;refseq.codonCoord=45;refseq.end=5887614;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_005511;refseq.name2=MLANA;refseq.positionType=CDS;refseq.proteinCoordStr=p.C45W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-40;refseq.start=5887614;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr9 6002734 . A C 430.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.50;MQ0=0;OQ=6125.18;QD=41.39;RankSumP=1.00000;SB=-2453.55;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.2874T>G;refseq.codonCoord_3=958;refseq.end_1=6002734;refseq.end_2=6002734;refseq.end_3=6002734;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1851;refseq.mrnaCoord_2=1792;refseq.mrnaCoord_3=2885;refseq.name2_1=RANBP6;refseq.name2_2=RANBP6;refseq.name2_3=RANBP6;refseq.name_1=NR_024094;refseq.name_2=NR_024095;refseq.name_3=NM_012416;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L958L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=1623;refseq.spliceDist_2=1623;refseq.spliceDist_3=-1716;refseq.start_1=6002734;refseq.start_2=6002734;refseq.start_3=6002734;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr9 6004541 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.1067G>T;refseq.codonCoord_3=356;refseq.end_1=6005402;refseq.end_2=6005461;refseq.end_3=6004541;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1078;refseq.name2_1=RANBP6;refseq.name2_2=RANBP6;refseq.name2_3=RANBP6;refseq.name_1=NR_024094;refseq.name_2=NR_024095;refseq.name_3=NM_012416;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.C356F;refseq.referenceAA_3=Cys;refseq.referenceCodon_3=TGT;refseq.spliceDist_3=1078;refseq.start_1=6004367;refseq.start_2=6004367;refseq.start_3=6004541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Phe;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr9 6318947 . T C 203.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=467;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.96;MQ0=0;OQ=9277.25;QD=19.87;RankSumP=0.202759;SB=-3388.23;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.352T>C;refseq.codingCoordStr_2=c.352T>C;refseq.codingCoordStr_3=c.352T>C;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=6318947;refseq.end_2=6318947;refseq.end_3=6318947;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=599;refseq.mrnaCoord_2=599;refseq.mrnaCoord_3=599;refseq.name2_1=TPD52L3;refseq.name2_2=TPD52L3;refseq.name2_3=TPD52L3;refseq.name_1=NM_001001874;refseq.name_2=NM_001001875;refseq.name_3=NM_033516;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F118L;refseq.proteinCoordStr_2=p.F118L;refseq.proteinCoordStr_3=p.F118L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=599;refseq.start_1=6318947;refseq.start_2=6318947;refseq.start_3=6318947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/0 chr9 6476907 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1479T>G;refseq.codonCoord=493;refseq.end=6476907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1819;refseq.name=NM_152896;refseq.name2=UHRF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G493G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-19;refseq.start=6476907;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 6494651 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2222A>C;refseq.codonCoord=741;refseq.end=6494651;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2562;refseq.name=NM_152896;refseq.name2=UHRF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y741S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-41;refseq.start=6494651;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr9 6600326 . C T 151.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=89.31;MQ0=14;OQ=2841.79;QD=16.62;RankSumP=0.486690;SB=-1184.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.501G>A;refseq.codonCoord=167;refseq.end=6600326;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_000170;refseq.name2=GLDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E167E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=31;refseq.start=6600326;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 6976464 . G C 197.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.94;MQ0=0;OQ=4786.33;QD=21.09;RankSumP=0.0521293;SB=-1104.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1475G>C;refseq.codingCoordStr_2=c.1475G>C;refseq.codingCoordStr_3=c.1541G>C;refseq.codingCoordStr_4=c.1475G>C;refseq.codonCoord_1=492;refseq.codonCoord_2=492;refseq.codonCoord_3=514;refseq.codonCoord_4=492;refseq.end_1=6976464;refseq.end_2=6976464;refseq.end_3=6976464;refseq.end_4=6976464;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2055;refseq.mrnaCoord_2=2055;refseq.mrnaCoord_3=1627;refseq.mrnaCoord_4=2055;refseq.name2_1=KDM4C;refseq.name2_2=KDM4C;refseq.name2_3=KDM4C;refseq.name2_4=KDM4C;refseq.name_1=NM_001146694;refseq.name_2=NM_001146695;refseq.name_3=NM_001146696;refseq.name_4=NM_015061;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S492T;refseq.proteinCoordStr_2=p.S492T;refseq.proteinCoordStr_3=p.S514T;refseq.proteinCoordStr_4=p.S492T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.spliceDist_3=121;refseq.spliceDist_4=121;refseq.start_1=6976464;refseq.start_2=6976464;refseq.start_3=6976464;refseq.start_4=6976464;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 0/1 chr9 7093816 . C T 106.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=11.13;MQ=98.87;MQ0=0;OQ=13149.68;QD=42.56;RankSumP=1.00000;SB=-5058.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2556C>T;refseq.codingCoordStr_2=c.2556C>T;refseq.codonCoord_1=852;refseq.codonCoord_2=852;refseq.end_1=7093816;refseq.end_2=7093816;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3136;refseq.mrnaCoord_2=3136;refseq.name2_1=KDM4C;refseq.name2_2=KDM4C;refseq.name_1=NM_001146694;refseq.name_2=NM_015061;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D852D;refseq.proteinCoordStr_2=p.D852D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=7093816;refseq.start_2=7093816;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr9 7164673 . G A 246.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.76;MQ0=0;OQ=1737.44;QD=16.24;RankSumP=0.446698;SB=-498.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3115G>A;refseq.codonCoord=1039;refseq.end=7164673;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3695;refseq.name=NM_015061;refseq.name2=KDM4C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1039I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=121;refseq.start=7164673;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr9 7789606 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=1.21;MQ=96.94;MQ0=0;OQ=478.70;QD=11.68;RankSumP=0.739898;SB=-122.42;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.129G>T;refseq.codonCoord=43;refseq.end=7789606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_033428;refseq.name2=C9orf123;refseq.positionType=CDS;refseq.proteinCoordStr=p.L43L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-146;refseq.start=7789606;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr9 7789653 . G T 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=95.62;MQ0=0;OQ=183.25;QD=6.79;RankSumP=0.0321169;SB=-113.66;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.82C>A;refseq.codonCoord=28;refseq.end=7789653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=147;refseq.name=NM_033428;refseq.name2=C9orf123;refseq.positionType=CDS;refseq.proteinCoordStr=p.P28T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=147;refseq.start=7789653;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr9 8487250 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=76;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.73;MQ0=0;OQ=1453.30;QD=19.12;RankSumP=0.441642;SB=-730.33;SecondBestBaseQ=33;refseq.changesAA_6=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_6=c.2341A>G;refseq.codonCoord_6=781;refseq.end_1=8494250;refseq.end_2=8494250;refseq.end_3=8494250;refseq.end_4=8494250;refseq.end_5=8494250;refseq.end_6=8487250;refseq.frame_6=0;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_6=3084;refseq.name2_1=PTPRD;refseq.name2_2=PTPRD;refseq.name2_3=PTPRD;refseq.name2_4=PTPRD;refseq.name2_5=PTPRD;refseq.name2_6=PTPRD;refseq.name_1=NM_001040712;refseq.name_2=NM_001171025;refseq.name_3=NM_130391;refseq.name_4=NM_130392;refseq.name_5=NM_130393;refseq.name_6=NM_002839;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.T781A;refseq.referenceAA_6=Thr;refseq.referenceCodon_6=ACT;refseq.spliceDist_6=-9;refseq.spliceInfo_6=splice-donor_-9;refseq.start_1=8475335;refseq.start_2=8475335;refseq.start_3=8475335;refseq.start_4=8475335;refseq.start_5=8475338;refseq.start_6=8487250;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_6=Ala;refseq.variantCodon_6=GCT;set=Intersection GT 1/0 chr9 8497427 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_1=c.1542G>C;refseq.codingCoordStr_2=c.1521G>C;refseq.codingCoordStr_3=c.1551G>C;refseq.codingCoordStr_4=c.1551G>C;refseq.codingCoordStr_5=c.1551G>C;refseq.codingCoordStr_6=c.1533G>C;refseq.codonCoord_1=514;refseq.codonCoord_2=507;refseq.codonCoord_3=517;refseq.codonCoord_4=517;refseq.codonCoord_5=517;refseq.codonCoord_6=511;refseq.end_1=8497427;refseq.end_2=8497427;refseq.end_3=8497427;refseq.end_4=8497427;refseq.end_5=8497427;refseq.end_6=8497427;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1645;refseq.mrnaCoord_2=1624;refseq.mrnaCoord_3=2294;refseq.mrnaCoord_4=1654;refseq.mrnaCoord_5=1654;refseq.mrnaCoord_6=1636;refseq.name2_1=PTPRD;refseq.name2_2=PTPRD;refseq.name2_3=PTPRD;refseq.name2_4=PTPRD;refseq.name2_5=PTPRD;refseq.name2_6=PTPRD;refseq.name_1=NM_001040712;refseq.name_2=NM_001171025;refseq.name_3=NM_002839;refseq.name_4=NM_130391;refseq.name_5=NM_130392;refseq.name_6=NM_130393;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G514G;refseq.proteinCoordStr_2=p.G507G;refseq.proteinCoordStr_3=p.G517G;refseq.proteinCoordStr_4=p.G517G;refseq.proteinCoordStr_5=p.G517G;refseq.proteinCoordStr_6=p.G511G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.referenceCodon_5=GGG;refseq.referenceCodon_6=GGG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceDist_4=8;refseq.spliceDist_5=8;refseq.spliceDist_6=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.spliceInfo_4=splice-acceptor_8;refseq.spliceInfo_5=splice-acceptor_8;refseq.spliceInfo_6=splice-acceptor_8;refseq.start_1=8497427;refseq.start_2=8497427;refseq.start_3=8497427;refseq.start_4=8497427;refseq.start_5=8497427;refseq.start_6=8497427;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;set=FilteredInAll GT 1/0 chr9 12765889 rs3750501 A G 30.48 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=2.57;MQ=94.39;MQ0=0;QD=4.35;SB=-3.98;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.175A>G;refseq.codonCoord=59;refseq.end=12765889;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_203403;refseq.name2=C9orf150;refseq.positionType=CDS;refseq.proteinCoordStr=p.S59G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-138;refseq.start=12765889;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:4,3:6:-8.14,-1.81,-14.75:63.31 chr9 14710357 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=5;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=2182.86;QD=14.46;RankSumP=0.0718701;SB=-800.20;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.535G>A;refseq.codonCoord=179;refseq.end=14710357;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=580;refseq.name=NM_005454;refseq.name2=CER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V179I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=28;refseq.start=14710357;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap-filterIngatk GT 0/1 chr9 14712333 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.338T>C;refseq.codonCoord=113;refseq.end=14712333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_005454;refseq.name2=CER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-170;refseq.start=14712333;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr9 14712477 . G C 102.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=8.37;MQ=98.59;MQ0=0;OQ=5307.62;QD=25.04;RankSumP=0.443306;SB=-1989.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.194C>G;refseq.codonCoord=65;refseq.end=14712477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_005454;refseq.name2=CER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=239;refseq.start=14712477;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr9 14712616 . G A 277.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=98.87;MQ0=0;OQ=1691.77;QD=17.81;RankSumP=0.0651296;SB=-745.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.55C>T;refseq.codonCoord=19;refseq.end=14712616;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=100;refseq.name=NM_005454;refseq.name2=CER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R19W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=100;refseq.start=14712616;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr9 15175320 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=188;Dels=0.00;HRun=0;HaplotypeScore=14.08;MQ=98.88;MQ0=0;OQ=4823.74;QD=25.66;RankSumP=0.302314;SB=-1332.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1566C>T;refseq.codingCoordStr_2=c.1533C>T;refseq.codingCoordStr_3=c.1365C>T;refseq.codingCoordStr_4=c.1077C>T;refseq.codingCoordStr_5=c.1572C>T;refseq.codonCoord_1=522;refseq.codonCoord_2=511;refseq.codonCoord_3=455;refseq.codonCoord_4=359;refseq.codonCoord_5=524;refseq.end_1=15175320;refseq.end_2=15175320;refseq.end_3=15175320;refseq.end_4=15175320;refseq.end_5=15175320;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1603;refseq.mrnaCoord_2=1570;refseq.mrnaCoord_3=1402;refseq.mrnaCoord_4=1484;refseq.mrnaCoord_5=1609;refseq.name2_1=TTC39B;refseq.name2_2=TTC39B;refseq.name2_3=TTC39B;refseq.name2_4=TTC39B;refseq.name2_5=TTC39B;refseq.name_1=NM_001168339;refseq.name_2=NM_001168340;refseq.name_3=NM_001168341;refseq.name_4=NM_001168342;refseq.name_5=NM_152574;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S522S;refseq.proteinCoordStr_2=p.S511S;refseq.proteinCoordStr_3=p.S455S;refseq.proteinCoordStr_4=p.S359S;refseq.proteinCoordStr_5=p.S524S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.spliceDist_5=-43;refseq.start_1=15175320;refseq.start_2=15175320;refseq.start_3=15175320;refseq.start_4=15175320;refseq.start_5=15175320;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;set=Intersection GT 1/0 chr9 15178106 . T C 262.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=5628.82;QD=19.41;RankSumP=0.313843;SB=-2334.11;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1252A>G;refseq.codingCoordStr_2=c.1219A>G;refseq.codingCoordStr_3=c.1051A>G;refseq.codingCoordStr_4=c.763A>G;refseq.codingCoordStr_5=c.1258A>G;refseq.codonCoord_1=418;refseq.codonCoord_2=407;refseq.codonCoord_3=351;refseq.codonCoord_4=255;refseq.codonCoord_5=420;refseq.end_1=15178106;refseq.end_2=15178106;refseq.end_3=15178106;refseq.end_4=15178106;refseq.end_5=15178106;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1289;refseq.mrnaCoord_2=1256;refseq.mrnaCoord_3=1088;refseq.mrnaCoord_4=1170;refseq.mrnaCoord_5=1295;refseq.name2_1=TTC39B;refseq.name2_2=TTC39B;refseq.name2_3=TTC39B;refseq.name2_4=TTC39B;refseq.name2_5=TTC39B;refseq.name_1=NM_001168339;refseq.name_2=NM_001168340;refseq.name_3=NM_001168341;refseq.name_4=NM_001168342;refseq.name_5=NM_152574;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.I418V;refseq.proteinCoordStr_2=p.I407V;refseq.proteinCoordStr_3=p.I351V;refseq.proteinCoordStr_4=p.I255V;refseq.proteinCoordStr_5=p.I420V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.spliceDist_4=25;refseq.spliceDist_5=25;refseq.start_1=15178106;refseq.start_2=15178106;refseq.start_3=15178106;refseq.start_4=15178106;refseq.start_5=15178106;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;set=Intersection GT 1/0 chr9 15469635 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=94.44;MQ0=1;OQ=8364.11;QD=19.18;RankSumP=0.283091;SB=-2857.25;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.507A>G;refseq.codingCoordStr_2=c.507A>G;refseq.codingCoordStr_3=c.507A>G;refseq.codonCoord_1=169;refseq.codonCoord_2=169;refseq.codonCoord_3=169;refseq.end_1=15469635;refseq.end_2=15469635;refseq.end_3=15469635;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=834;refseq.mrnaCoord_2=608;refseq.mrnaCoord_3=837;refseq.name2_1=PSIP1;refseq.name2_2=PSIP1;refseq.name2_3=PSIP1;refseq.name_1=NM_001128217;refseq.name_2=NM_021144;refseq.name_3=NM_033222;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T169T;refseq.proteinCoordStr_2=p.T169T;refseq.proteinCoordStr_3=p.T169T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=15469635;refseq.start_2=15469635;refseq.start_3=15469635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr9 15581372 . T A 122.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1530.40;QD=13.66;RankSumP=0.198989;SB=-308.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.361T>A;refseq.codonCoord=121;refseq.end=15581372;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_173550;refseq.name2=C9orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.S121T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=15581372;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 15734429 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=141;Dels=0.00;HRun=2;HaplotypeScore=16.12;MQ=98.22;MQ0=0;OQ=278.24;QD=1.97;RankSumP=0.00000;SB=224.72;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2208T>G;refseq.codonCoord=736;refseq.end=15734429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2523;refseq.name=NM_173550;refseq.name2=C9orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.G736G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=159;refseq.start=15734429;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 15774631 . A G 328.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=99.00;MQ0=0;OQ=4770.97;QD=19.71;RankSumP=0.419095;SB=-1903.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3206A>G;refseq.codonCoord=1069;refseq.end=15774631;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3521;refseq.name=NM_173550;refseq.name2=C9orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1069R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-62;refseq.start=15774631;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr9 16427003 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1189A>C;refseq.codonCoord=397;refseq.end=16427003;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_017637;refseq.name2=BNC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T397P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=520;refseq.start=16427003;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 17263731 . A G 195.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.67;MQ0=0;OQ=2928.74;QD=14.72;RankSumP=0.179772;SB=-921.16;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.850A>G;refseq.codingCoordStr_2=c.850A>G;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.end_1=17263731;refseq.end_2=17263731;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=876;refseq.mrnaCoord_2=876;refseq.name2_1=CNTLN;refseq.name2_2=CNTLN;refseq.name_1=NM_001114395;refseq.name_2=NM_017738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T284A;refseq.proteinCoordStr_2=p.T284A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=17263731;refseq.start_2=17263731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr9 17332383 . C T 401.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=2965.41;QD=42.36;RankSumP=1.00000;SB=-1329.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1827C>T;refseq.codonCoord=609;refseq.end=17332383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1853;refseq.name=NM_017738;refseq.name2=CNTLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D609D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-60;refseq.start=17332383;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr9 17384536 . C T 234.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1853.19;QD=43.10;RankSumP=1.00000;SB=-873.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2084C>T;refseq.codonCoord=695;refseq.end=17384536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2110;refseq.name=NM_017738;refseq.name2=CNTLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T695I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=17384536;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr9 17384996 . T C 266.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=98.76;MQ0=0;OQ=14415.20;QD=41.07;RankSumP=1.00000;SB=-6731.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2544T>C;refseq.codonCoord=848;refseq.end=17384996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2570;refseq.name=NM_017738;refseq.name2=CNTLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H848H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-72;refseq.start=17384996;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr9 17399366 . G A 193.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.72;MQ0=0;OQ=12465.04;QD=42.84;RankSumP=1.00000;SB=-5634.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2691G>A;refseq.codonCoord=897;refseq.end=17399366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2717;refseq.name=NM_017738;refseq.name2=CNTLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T897T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=76;refseq.start=17399366;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr9 18940787 . G A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=670;Dels=0.00;HRun=0;HaplotypeScore=9.19;MQ=98.75;MQ0=0;OQ=27336.78;QD=40.80;RankSumP=1.00000;SB=-13660.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.187C>T;refseq.codonCoord=63;refseq.end=18940787;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_153707;refseq.name2=FAM154A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P63S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-32;refseq.start=18940787;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr9 18940895 . T C 108.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=535;Dels=0.00;HRun=0;HaplotypeScore=10.17;MQ=98.54;MQ0=0;OQ=19221.46;QD=35.93;RankSumP=1.00000;SB=-8982.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.79A>G;refseq.codonCoord=27;refseq.end=18940895;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_153707;refseq.name2=FAM154A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K27E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=41;refseq.start=18940895;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr9 19039880 . A C 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=4.75370e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.223A>C;refseq.codonCoord=75;refseq.end=19039880;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_006570;refseq.name2=RRAGA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T75P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=509;refseq.start=19039880;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 19053108 . T C 253.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=76.35;MQ0=43;OQ=8276.77;QD=34.63;RankSumP=0.425032;SB=-1306.47;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1527A>G;refseq.codonCoord=509;refseq.end=19053108;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1780;refseq.name=NM_017645;refseq.name2=HAUS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L509L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=84;refseq.start=19053108;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr9 19066673 . G C 317.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=84.60;MQ0=19;OQ=3539.41;QD=36.87;RankSumP=1.00000;SB=-1239.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1221C>G;refseq.codonCoord=407;refseq.end=19066673;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1474;refseq.name=NM_017645;refseq.name2=HAUS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P407P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=30;refseq.start=19066673;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr9 19331045 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=7.96;MQ=99.00;MQ0=0;OQ=1036.73;QD=11.03;RankSumP=0.277159;SB=-388.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2082A>G;refseq.codonCoord=694;refseq.end=19331045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2115;refseq.name=NM_017925;refseq.name2=DENND4C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A694A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=56;refseq.start=19331045;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr9 19342559 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3822A>G;refseq.codonCoord=1274;refseq.end=19342559;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3855;refseq.name=NM_017925;refseq.name2=DENND4C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1274G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=72;refseq.start=19342559;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 19369603 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.20T>C;refseq.codonCoord=7;refseq.end=19369603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=62;refseq.name=NM_001010;refseq.name2=RPS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F7S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=14;refseq.start=19369603;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr9 19566949 . T G 102.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=516;Dels=0.00;HRun=0;HaplotypeScore=10.38;MQ=98.54;MQ0=0;OQ=18729.65;QD=36.30;RankSumP=1.00000;SB=-9228.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1201A>C;refseq.codonCoord=401;refseq.end=19566949;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1263;refseq.name=NM_020344;refseq.name2=SLC24A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R401R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-28;refseq.start=19566949;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr9 19612268 . T C 171.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=19.51;MQ=98.88;MQ0=0;OQ=4578.12;QD=19.56;RankSumP=0.252670;SB=-1712.57;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.960A>G;refseq.codonCoord=320;refseq.end=19612268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_020344;refseq.name2=SLC24A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P320P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=19612268;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr9 20404310 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.147899;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.534T>C;refseq.codonCoord=178;refseq.end=20404310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_004529;refseq.name2=MLLT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S178S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=114;refseq.start=20404310;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr9 20404343 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=0;RankSumP=0.428571;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=20404343;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_004529;refseq.name2=MLLT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S167S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=81;refseq.start=20404343;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr9 20856974 . C G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=7.08;MQ=98.38;MQ0=0;OQ=21009.03;QD=50.02;RankSumP=1.00000;SB=-8502.94;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2153C>G;refseq.codonCoord=718;refseq.end=20856974;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2516;refseq.name=NM_017794;refseq.name2=KIAA1797;refseq.positionType=CDS;refseq.proteinCoordStr=p.T718S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-38;refseq.start=20856974;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr9 20934629 . G A 264.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=98.82;MQ0=0;OQ=7981.69;QD=19.14;RankSumP=0.229554;SB=-2362.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3411G>A;refseq.codonCoord=1137;refseq.end=20934629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3774;refseq.name=NM_017794;refseq.name2=KIAA1797;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1137T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=20934629;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 20943049 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=12.07;MQ=98.57;MQ0=0;OQ=2053.18;QD=10.32;RankSumP=0.197379;SB=-511.90;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4117A>G;refseq.codonCoord=1373;refseq.end=20943049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4480;refseq.name=NM_017794;refseq.name2=KIAA1797;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1373A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-16;refseq.start=20943049;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr9 20978426 . A G 409.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.77;MQ0=0;OQ=7753.43;QD=39.97;RankSumP=1.00000;SB=-1554.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.5002A>G;refseq.codonCoord=1668;refseq.end=20978426;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5365;refseq.name=NM_017794;refseq.name2=KIAA1797;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1668E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=20978426;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr9 21019330 . T C 359.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=98.47;MQ0=0;OQ=5127.86;QD=19.28;RankSumP=0.429762;SB=-1477.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.106A>G;refseq.codonCoord=36;refseq.end=21019330;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_001010915;refseq.name2=PTPLAD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T36A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-37;refseq.start=21019330;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr9 21067716 . G A 237.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=8.26;MQ=98.75;MQ0=0;OQ=11119.65;QD=41.65;RankSumP=1.00000;SB=-4531.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.153C>T;refseq.codonCoord=51;refseq.end=21067716;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_002176;refseq.name2=IFNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y51Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=228;refseq.start=21067716;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr9 21177311 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=30.70;MQ=71.79;MQ0=90;OQ=11480.19;QD=29.59;RankSumP=1.00000;SB=-4046.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.220G>A;refseq.codonCoord=74;refseq.end=21177311;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_021068;refseq.name2=IFNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A74T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=288;refseq.start=21177311;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr9 21430949 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.407969;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.443G>A;refseq.codonCoord=148;refseq.end=21430949;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_024013;refseq.name2=IFNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R148Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-367;refseq.start=21430949;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr9 21471556 . T G 262.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.92;MQ0=0;OQ=5777.83;QD=23.49;RankSumP=0.335679;SB=-2120.02;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.138A>C;refseq.codonCoord_2=46;refseq.end_1=21549477;refseq.end_2=21471556;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=757;refseq.name2_1=LOC554202;refseq.name2_2=IFNE;refseq.name_1=NR_027054;refseq.name_2=NM_176891;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q46H;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=-716;refseq.start_1=21467302;refseq.start_2=21471556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr9 21806758 . G A 124.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=708;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.95;MQ0=0;OQ=13864.60;QD=19.58;RankSumP=0.286935;SB=-4566.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.166G>A;refseq.codonCoord=56;refseq.end=21806758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_002451;refseq.name2=MTAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V56I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-14;refseq.start=21806758;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr9 22437337 . C A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.675000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.273C>A;refseq.codonCoord=91;refseq.end=22437337;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_022160;refseq.name2=DMRTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y91*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-395;refseq.start=22437337;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr9 25667698 . A C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=9;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=95.68;MQ0=0;OQ=55.69;QD=6.19;RankSumP=0.277778;SB=-44.56;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.622T>G;refseq.codonCoord=208;refseq.end=25667698;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_001004125;refseq.name2=TUSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S208A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=1159;refseq.start=25667698;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 0/1 chr9 25667933 . T C 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=94.98;MQ0=0;OQ=99.11;QD=8.26;RankSumP=0.466667;SB=-38.93;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=25667933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=924;refseq.name=NM_001004125;refseq.name2=TUSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A129A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=924;refseq.start=25667933;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr9 25667953 . T C 123.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.17;MQ0=0;OQ=153.42;QD=17.05;RankSumP=1.00000;SB=-77.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.367A>G;refseq.codonCoord=123;refseq.end=25667953;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_001004125;refseq.name2=TUSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N123D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=904;refseq.start=25667953;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/1 chr9 26968170 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=3;HaplotypeScore=13.37;MQ=98.88;MQ0=0;OQ=4789.68;QD=20.92;RankSumP=0.328747;SB=-1956.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.165A>G;refseq.codingCoordStr_2=c.165A>G;refseq.codingCoordStr_3=c.165A>G;refseq.codingCoordStr_4=c.165A>G;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.codonCoord_3=55;refseq.codonCoord_4=55;refseq.end_1=26968170;refseq.end_2=26968170;refseq.end_3=26968170;refseq.end_4=26968170;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=336;refseq.mrnaCoord_2=292;refseq.mrnaCoord_3=328;refseq.mrnaCoord_4=328;refseq.name2_1=IFT74;refseq.name2_2=IFT74;refseq.name2_3=IFT74;refseq.name2_4=IFT74;refseq.name_1=NM_001099222;refseq.name_2=NM_001099223;refseq.name_3=NM_001099224;refseq.name_4=NM_025103;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I55M;refseq.proteinCoordStr_2=p.I55M;refseq.proteinCoordStr_3=p.I55M;refseq.proteinCoordStr_4=p.I55M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.spliceDist_4=45;refseq.start_1=26968170;refseq.start_2=26968170;refseq.start_3=26968170;refseq.start_4=26968170;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 0/1 chr9 26968259 . A G 204.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.74;MQ0=0;OQ=5059.49;QD=22.19;RankSumP=0.0830644;SB=-1669.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.254A>G;refseq.codingCoordStr_2=c.254A>G;refseq.codingCoordStr_3=c.254A>G;refseq.codingCoordStr_4=c.254A>G;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.codonCoord_3=85;refseq.codonCoord_4=85;refseq.end_1=26968259;refseq.end_2=26968259;refseq.end_3=26968259;refseq.end_4=26968259;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=381;refseq.mrnaCoord_3=417;refseq.mrnaCoord_4=417;refseq.name2_1=IFT74;refseq.name2_2=IFT74;refseq.name2_3=IFT74;refseq.name2_4=IFT74;refseq.name_1=NM_001099222;refseq.name_2=NM_001099223;refseq.name_3=NM_001099224;refseq.name_4=NM_025103;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K85R;refseq.proteinCoordStr_2=p.K85R;refseq.proteinCoordStr_3=p.K85R;refseq.proteinCoordStr_4=p.K85R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceDist_4=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.spliceInfo_4=splice-donor_-3;refseq.start_1=26968259;refseq.start_2=26968259;refseq.start_3=26968259;refseq.start_4=26968259;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=Intersection GT 0/1 chr9 27163339 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=526;Dels=0.00;HRun=2;HaplotypeScore=23.77;MQ=98.16;MQ0=0;OQ=265.55;QD=0.50;RankSumP=0.00000;SB=823.78;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.880A>G;refseq.codonCoord=294;refseq.end=27163339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1322;refseq.name=NM_000459;refseq.name2=TEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.K294E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-22;refseq.start=27163339;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr9 27173463 . A C 111.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=591;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=98.66;MQ0=0;OQ=11097.78;QD=18.78;RankSumP=0.240718;SB=-3042.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1037A>C;refseq.codonCoord=346;refseq.end=27173463;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1479;refseq.name=NM_000459;refseq.name2=TEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q346P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=27173463;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr9 27192870 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=528;Dels=0.00;HRun=1;HaplotypeScore=5.67;MQ=98.86;MQ0=0;OQ=10502.35;QD=19.89;RankSumP=0.0491242;SB=-4345.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1962A>G;refseq.codonCoord=654;refseq.end=27192870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2404;refseq.name=NM_000459;refseq.name2=TEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S654S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=53;refseq.start=27192870;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr9 27195021 . G A 254.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=354;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.93;MQ0=0;OQ=7888.77;QD=22.28;RankSumP=0.312331;SB=-2446.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2322G>A;refseq.codonCoord=774;refseq.end=27195021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2764;refseq.name=NM_000459;refseq.name2=TEK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R774R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-43;refseq.start=27195021;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr9 27286705 . A G 239.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.70;MQ0=0;OQ=1294.81;QD=16.60;RankSumP=0.345605;SB=-640.96;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.108T>C;refseq.codingCoordStr_2=c.108T>C;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.end_1=27286705;refseq.end_2=27286705;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=192;refseq.mrnaCoord_2=192;refseq.name2_1=C9orf11;refseq.name2_2=C9orf11;refseq.name_1=NM_001161585;refseq.name_2=NM_020641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D36D;refseq.proteinCoordStr_2=p.D36D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=27286705;refseq.start_2=27286705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr9 27445135 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.35;MQ0=0;OQ=627.12;QD=13.94;RankSumP=0.0680912;SB=-234.23;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.414C>T;refseq.codonCoord=138;refseq.end=27445135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_024761;refseq.name2=MOBKL2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C138C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=27445135;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr9 27514731 . A G 422.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3313.55;QD=38.98;RankSumP=1.00000;SB=-1545.31;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.397A>G;refseq.codonCoord_2=133;refseq.end_1=27519542;refseq.end_2=27514731;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=420;refseq.name2_1=MOBKL2B;refseq.name2_2=IFNK;refseq.name_1=NM_024761;refseq.name_2=NM_020124;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K133E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-229;refseq.start_1=27445757;refseq.start_2=27514731;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr9 27546780 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=3;HaplotypeScore=7.96;MQ=98.82;MQ0=0;OQ=7199.90;QD=16.48;RankSumP=0.328564;SB=-1050.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.870C>T;refseq.codonCoord=290;refseq.end=27546780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_018325;refseq.name2=C9orf72;refseq.positionType=CDS;refseq.proteinCoordStr=p.S290S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=15;refseq.start=27546780;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr9 27551628 . T C 223.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.61;MQ0=0;OQ=2552.64;QD=17.02;RankSumP=0.242947;SB=-632.48;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.620A>G;refseq.codingCoordStr_2=c.620A>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=27551628;refseq.end_2=27551628;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=717;refseq.mrnaCoord_2=722;refseq.name2_1=C9orf72;refseq.name2_2=C9orf72;refseq.name_1=NM_018325;refseq.name_2=NM_145005;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N207S;refseq.proteinCoordStr_2=p.N207S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=27551628;refseq.start_2=27551628;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr9 32415910 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=40.94;MQ=98.73;MQ0=0;OQ=6751.51;QD=18.10;RankSumP=0.474120;SB=-667.17;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1263A>G;refseq.codonCoord=421;refseq.end=32415910;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1418;refseq.name=NM_002197;refseq.name2=ACO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E421E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=75;refseq.start=32415910;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr9 32449450 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=6.76;MQ=98.88;MQ0=0;OQ=2017.59;QD=14.01;RankSumP=0.239518;SB=-458.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2400A>C;refseq.codonCoord=800;refseq.end=32449450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2558;refseq.name=NM_014314;refseq.name2=DDX58;refseq.positionType=CDS;refseq.proteinCoordStr=p.V800V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=63;refseq.start=32449450;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr9 32470251 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=1;HaplotypeScore=18.89;MQ=98.88;MQ0=0;OQ=7716.91;QD=19.15;RankSumP=0.0409156;SB=-2460.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1740T>A;refseq.codonCoord=580;refseq.end=32470251;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_014314;refseq.name2=DDX58;refseq.positionType=CDS;refseq.proteinCoordStr=p.D580E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-35;refseq.start=32470251;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 32490832 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.72;MQ0=0;OQ=2408.02;QD=16.72;RankSumP=0.399787;SB=-804.28;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.212G>A;refseq.codonCoord=71;refseq.end=32490832;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_014314;refseq.name2=DDX58;refseq.positionType=CDS;refseq.proteinCoordStr=p.R71H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-30;refseq.start=32490832;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr9 32532204 . A G 130.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.85;MQ0=0;OQ=6695.74;QD=20.86;RankSumP=0.414942;SB=-2872.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2319T>C;refseq.codonCoord=773;refseq.end=32532204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2507;refseq.name=NM_005802;refseq.name2=TOPORS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S773S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-1662;refseq.start=32532204;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr9 32963622 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.381T>G;refseq.codingCoordStr_2=c.*60T>G;refseq.codingCoordStr_3=c.381T>G;refseq.codingCoordStr_4=c.639T>G;refseq.codingCoordStr_5=c.903T>G;refseq.codonCoord_1=127;refseq.codonCoord_3=127;refseq.codonCoord_4=213;refseq.codonCoord_5=301;refseq.end_1=32963622;refseq.end_2=32963622;refseq.end_3=32963622;refseq.end_4=32963622;refseq.end_5=32963622;refseq.frame_1=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=1005;refseq.mrnaCoord_3=792;refseq.mrnaCoord_4=1010;refseq.mrnaCoord_5=1055;refseq.name2_1=APTX;refseq.name2_2=APTX;refseq.name2_3=APTX;refseq.name2_4=APTX;refseq.name2_5=APTX;refseq.name_1=NM_017692;refseq.name_2=NM_175069;refseq.name_3=NM_175071;refseq.name_4=NM_175072;refseq.name_5=NM_175073;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G127G;refseq.proteinCoordStr_3=p.G127G;refseq.proteinCoordStr_4=p.G213G;refseq.proteinCoordStr_5=p.G301G;refseq.referenceAA_1=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=29;refseq.spliceDist_2=65;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.spliceDist_5=29;refseq.start_1=32963622;refseq.start_2=32963622;refseq.start_3=32963622;refseq.start_4=32963622;refseq.start_5=32963622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr9 32974788 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.89T>G;refseq.codingCoordStr_2=c.653T>G;refseq.codingCoordStr_3=c.89T>G;refseq.codingCoordStr_4=c.347T>G;refseq.codingCoordStr_5=c.611T>G;refseq.codonCoord_1=30;refseq.codonCoord_2=218;refseq.codonCoord_3=30;refseq.codonCoord_4=116;refseq.codonCoord_5=204;refseq.end_1=32974788;refseq.end_2=32974788;refseq.end_3=32974788;refseq.end_4=32974788;refseq.end_5=32974788;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=693;refseq.mrnaCoord_2=677;refseq.mrnaCoord_3=500;refseq.mrnaCoord_4=718;refseq.mrnaCoord_5=763;refseq.name2_1=APTX;refseq.name2_2=APTX;refseq.name2_3=APTX;refseq.name2_4=APTX;refseq.name2_5=APTX;refseq.name_1=NM_017692;refseq.name_2=NM_175069;refseq.name_3=NM_175071;refseq.name_4=NM_175072;refseq.name_5=NM_175073;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V30G;refseq.proteinCoordStr_2=p.V218G;refseq.proteinCoordStr_3=p.V30G;refseq.proteinCoordStr_4=p.V116G;refseq.proteinCoordStr_5=p.V204G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.spliceDist_4=68;refseq.spliceDist_5=68;refseq.start_1=32974788;refseq.start_2=32974788;refseq.start_3=32974788;refseq.start_4=32974788;refseq.start_5=32974788;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;set=FilteredInAll GT 0/1 chr9 33016572 . T C 246.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=98.31;MQ0=0;OQ=10700.42;QD=41.80;RankSumP=1.00000;SB=-5136.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.90T>C;refseq.codonCoord=30;refseq.end=33016572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_001539;refseq.name2=DNAJA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A30A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-43;refseq.start=33016572;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr9 33254540 . C G 66.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.35;MQ0=0;OQ=152.54;QD=21.79;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_2=c.-213G>C;refseq.codingCoordStr_3=c.133G>C;refseq.codonCoord_3=45;refseq.end_1=33494524;refseq.end_2=33254540;refseq.end_3=33254540;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=220;refseq.mrnaCoord_3=220;refseq.name2_1=SUGT1P1;refseq.name2_2=BAG1;refseq.name2_3=BAG1;refseq.name_1=NR_003667;refseq.name_2=NM_001172415;refseq.name_3=NM_004323;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G45R;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGG;refseq.spliceDist_2=220;refseq.spliceDist_3=220;refseq.start_1=33234399;refseq.start_2=33254540;refseq.start_3=33254540;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGG;set=filterInsoap-gatk GT 1/1 chr9 33334081 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.2239A>C;refseq.codingCoordStr_3=c.2239A>C;refseq.codingCoordStr_4=c.2239A>C;refseq.codonCoord_2=747;refseq.codonCoord_3=747;refseq.codonCoord_4=747;refseq.end_1=33494524;refseq.end_2=33334081;refseq.end_3=33334081;refseq.end_4=33334081;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=2300;refseq.mrnaCoord_3=2300;refseq.mrnaCoord_4=2300;refseq.name2_1=SUGT1P1;refseq.name2_2=NFX1;refseq.name2_3=NFX1;refseq.name2_4=NFX1;refseq.name_1=NR_003667;refseq.name_2=NM_002504;refseq.name_3=NM_147133;refseq.name_4=NM_147134;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T747P;refseq.proteinCoordStr_3=p.T747P;refseq.proteinCoordStr_4=p.T747P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.start_1=33234399;refseq.start_2=33334081;refseq.start_3=33334081;refseq.start_4=33334081;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr9 33341740 . A C 43.69 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=107;Dels=0.00;HRun=3;HaplotypeScore=7.76;MQ=98.78;MQ0=0;QD=0.41;RankSumP=1.56169e-09;SB=86.29;SecondBestBaseQ=15;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_2=c.2607A>C;refseq.codingCoordStr_3=c.2607A>C;refseq.codonCoord_2=869;refseq.codonCoord_3=869;refseq.end_1=33494524;refseq.end_2=33341740;refseq.end_3=33341740;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2668;refseq.mrnaCoord_3=2668;refseq.name2_1=SUGT1P1;refseq.name2_2=NFX1;refseq.name2_3=NFX1;refseq.name_1=NR_003667;refseq.name_2=NM_002504;refseq.name_3=NM_147133;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A869A;refseq.proteinCoordStr_3=p.A869A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=33234399;refseq.start_2=33341740;refseq.start_3=33341740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr9 33375287 . T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=0;HaplotypeScore=6.45;MQ=58.31;MQ0=12;OQ=322.39;QD=1.65;SB=-77.72;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.745A>G;refseq.codonCoord_2=249;refseq.end_1=33494524;refseq.end_2=33375287;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=917;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N249D;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=33234399;refseq.start_2=33375287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:158,37:166:-85.53,-50.01,-607.63:99 chr9 33375808 rs62542744 G T 0.05 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=2.52;MQ=87.51;MQ0=1;OQ=69.66;QD=3.48;SB=-39.65;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.582C>A;refseq.codonCoord_2=194;refseq.end_1=33494524;refseq.end_2=33375808;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=754;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N194K;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=57;refseq.start_1=33234399;refseq.start_2=33375808;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=gatk GT:AD:DP:GL:GQ 0/1:16,4:17:-15.37,-5.12,-53.73:99 chr9 33375815 rs62542745 T C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=2;HaplotypeScore=0.96;MQ=87.30;MQ0=1;OQ=95.94;QD=4.57;SB=-32.78;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.575A>G;refseq.codonCoord_2=192;refseq.end_1=33494524;refseq.end_2=33375815;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=747;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q192R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=50;refseq.start_1=33234399;refseq.start_2=33375815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:16,5:18:-18.30,-5.42,-55.75:99 chr9 33375863 rs62542746 G T 0.64 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=82.21;MQ0=0;OQ=92.75;QD=7.73;SB=-66.73;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.527C>A;refseq.codonCoord_2=176;refseq.end_1=33494524;refseq.end_2=33375863;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=699;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A176E;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=33234399;refseq.start_2=33375863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=gatk GT:AD:DP:GL:GQ 0/1:7,5:8:-14.97,-2.41,-16.77:99 chr9 33376144 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=70.54;MQ0=5;OQ=78.77;QD=0.88;SB=74.25;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.456C>T;refseq.codonCoord_2=152;refseq.end_1=33494524;refseq.end_2=33376144;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=628;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V152V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=50;refseq.start_1=33234399;refseq.start_2=33376144;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:82,8:79:-34.95,-23.79,-272.35:99 chr9 33376146 . C A 46.52 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=1;HaplotypeScore=2.65;MQ=70.13;MQ0=5;QD=0.51;SB=71.22;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.454G>T;refseq.codonCoord_2=152;refseq.end_1=33494524;refseq.end_2=33376146;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=626;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V152F;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=48;refseq.start_1=33234399;refseq.start_2=33376146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:84,8:79:-31.72,-23.79,-277.13:79.36 chr9 33376167 . G C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=78.66;MQ0=0;OQ=482.82;QD=5.19;SB=74.28;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.433C>G;refseq.codonCoord_2=145;refseq.end_1=33494524;refseq.end_2=33376167;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=605;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q145E;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=27;refseq.start_1=33234399;refseq.start_2=33376167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:75,18:82:-76.26,-24.69,-323.43:99 chr9 33376465 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=70.81;MQ0=13;OQ=66.51;QD=0.70;SB=24.02;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.343T>C;refseq.codonCoord_2=115;refseq.end_1=33494524;refseq.end_2=33376465;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=515;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y115H;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_2=-64;refseq.start_1=33234399;refseq.start_2=33376465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:86,9:80:-34.03,-24.10,-307.10:99 chr9 33376469 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=74.12;MQ0=8;OQ=65.03;QD=0.68;SB=26.04;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.339G>A;refseq.codonCoord_2=113;refseq.end_1=33494524;refseq.end_2=33376469;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=511;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P113P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-68;refseq.start_1=33234399;refseq.start_2=33376469;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:85,10:84:-35.08,-25.30,-293.68:97.87 chr9 33376510 . C T 0.08 PASS AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=87.93;MQ0=6;OQ=837.42;QD=6.92;SB=-343.90;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.298G>A;refseq.codonCoord_2=100;refseq.end_1=33494524;refseq.end_2=33376510;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=470;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A100T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=30;refseq.start_1=33234399;refseq.start_2=33376510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=gatk GT:AD:DP:GL:GQ 0/1:86,35:110:-120.15,-33.12,-333.52:99 chr9 33376511 . A G 0.08 PASS AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=87.27;MQ0=6;OQ=880.88;QD=7.22;SB=-314.06;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.297T>C;refseq.codonCoord_2=99;refseq.end_1=33494524;refseq.end_2=33376511;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=469;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F99F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTT;refseq.spliceDist_2=29;refseq.start_1=33234399;refseq.start_2=33376511;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=gatk GT:AD:DP:GL:GQ 0/1:86,36:111:-124.80,-33.43,-347.20:99 chr9 33376526 . G A 0.07 PASS AC=1;AF=0.50;AN=2;DP=132;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=79.80;MQ0=24;OQ=935.74;QD=7.09;SB=-486.46;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.282C>T;refseq.codonCoord_2=94;refseq.end_1=33494524;refseq.end_2=33376526;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=454;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N94N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=14;refseq.start_1=33234399;refseq.start_2=33376526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=gatk GT:AD:DP:GL:GQ 0/1:89,42:107:-132.17,-35.31,-287.46:99 chr9 33376975 . C T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.359990;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.260G>A;refseq.codonCoord_2=87;refseq.end_1=33494524;refseq.end_2=33376975;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=432;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R87H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=33234399;refseq.start_2=33376975;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=FilteredInAll GT 0/1 chr9 33376989 . C G 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=552;Dels=0.00;HRun=1;HaplotypeScore=5.76;MQ=56.18;MQ0=38;OQ=6822.84;QD=12.36;RankSumP=0.174096;SB=-2674.57;SecondBestBaseQ=25;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.246G>C;refseq.codonCoord_2=82;refseq.end_1=33494524;refseq.end_2=33376989;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=418;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V82V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-23;refseq.start_1=33234399;refseq.start_2=33376989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr9 33377004 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=525;Dels=0.00;HRun=2;HaplotypeScore=12.25;MQ=58.18;MQ0=36;OQ=5593.49;QD=10.65;RankSumP=0.450162;SB=-1505.95;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.231A>G;refseq.codonCoord_2=77;refseq.end_1=33494524;refseq.end_2=33377004;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=403;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G77G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=-38;refseq.start_1=33234399;refseq.start_2=33377004;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr9 33377047 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=30.67;MQ=60.87;MQ0=26;OQ=2531.26;QD=9.97;RankSumP=0.417986;SB=-669.57;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.188A>C;refseq.codonCoord_2=63;refseq.end_1=33494524;refseq.end_2=33377047;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=360;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K63T;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=44;refseq.start_1=33234399;refseq.start_2=33377047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr9 33377073 . G A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=185;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=43.98;MQ0=51;OQ=1566.10;QD=8.47;RankSumP=0.196497;SB=-355.37;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.162C>T;refseq.codonCoord_2=54;refseq.end_1=33494524;refseq.end_2=33377073;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=334;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S54S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=18;refseq.start_1=33234399;refseq.start_2=33377073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr9 33385103 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=274;Dels=0.00;HRun=0;HaplotypeScore=28.94;MQ=94.19;MQ0=0;OQ=213.21;QD=0.78;SB=-105.71;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.117C>T;refseq.codonCoord_2=39;refseq.end_1=33494524;refseq.end_2=33385103;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=289;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A39A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-28;refseq.start_1=33234399;refseq.start_2=33385103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:250,24:265:-104.41,-79.81,-942.40:99 chr9 33385108 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=54.80;MQ=94.30;MQ0=0;OQ=741.68;QD=2.87;RankSumP=0.180738;SB=-304.51;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.112C>T;refseq.codonCoord_2=38;refseq.end_1=33494524;refseq.end_2=33385108;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=284;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP7;refseq.name_1=NR_003667;refseq.name_2=NM_001170;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L38L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-33;refseq.start_1=33234399;refseq.start_2=33385108;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=soap-filterIngatk GT 1/0 chr9 33432952 . G A 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.69;MQ0=0;OQ=6401.50;QD=39.27;RankSumP=1.00000;SB=-3007.40;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.390C>T;refseq.codonCoord_2=130;refseq.end_1=33494524;refseq.end_2=33432952;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=452;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP3;refseq.name_1=NR_003667;refseq.name_2=NM_004925;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F130F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=17;refseq.start_1=33234399;refseq.start_2=33432952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr9 33437424 . C G 310.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.43;MQ0=0;OQ=585.59;QD=39.04;RankSumP=1.00000;SB=-56.47;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.105G>C;refseq.codonCoord_2=35;refseq.end_1=33494524;refseq.end_2=33437424;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=167;refseq.name2_1=SUGT1P1;refseq.name2_2=AQP3;refseq.name_1=NR_003667;refseq.name_2=NM_004925;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L35L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=33234399;refseq.start_2=33437424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr9 33786672 . T C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=684;Dels=0.00;HRun=0;HaplotypeScore=18.45;MQ=75.06;MQ0=13;OQ=310.96;QD=0.45;SB=98.60;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.72T>C;refseq.codingCoordStr_2=c.243T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=81;refseq.end_1=33786672;refseq.end_2=33786672;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=85;refseq.mrnaCoord_2=243;refseq.name2_1=PRSS3;refseq.name2_2=PRSS3;refseq.name_1=NM_002771;refseq.name_2=NM_007343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I24I;refseq.proteinCoordStr_2=p.I81I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=33786672;refseq.start_2=33786672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:627,57:649:-229.82,-195.44,-2563.36:99 chr9 33786673 . G A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=678;Dels=0.00;HRun=0;HaplotypeScore=21.44;MQ=75.04;MQ0=13;OQ=394.40;QD=0.58;SB=104.76;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.73G>A;refseq.codingCoordStr_2=c.244G>A;refseq.codonCoord_1=25;refseq.codonCoord_2=82;refseq.end_1=33786673;refseq.end_2=33786673;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=86;refseq.mrnaCoord_2=244;refseq.name2_1=PRSS3;refseq.name2_2=PRSS3;refseq.name_1=NM_002771;refseq.name_2=NM_007343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V25I;refseq.proteinCoordStr_2=p.V82I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=33786673;refseq.start_2=33786673;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:620,58:641:-235.72,-193.00,-2426.63:99 chr9 33786799 . A T 16.64 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=160;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=81.22;MQ0=2;QD=0.10;SB=25.56;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.199A>T;refseq.codingCoordStr_2=c.370A>T;refseq.codonCoord_1=67;refseq.codonCoord_2=124;refseq.end_1=33786799;refseq.end_2=33786799;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=212;refseq.mrnaCoord_2=370;refseq.name2_1=PRSS3;refseq.name2_2=PRSS3;refseq.name_1=NM_002771;refseq.name_2=NM_007343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T67S;refseq.proteinCoordStr_2=p.T124S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=33786799;refseq.start_2=33786799;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:144,14:137:-46.20,-41.27,-461.26:49.38 chr9 33787971 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.345A>C;refseq.codingCoordStr_2=c.516A>C;refseq.codonCoord_1=115;refseq.codonCoord_2=172;refseq.end_1=33787971;refseq.end_2=33787971;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=516;refseq.name2_1=PRSS3;refseq.name2_2=PRSS3;refseq.name_1=NM_002771;refseq.name_2=NM_007343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S115S;refseq.proteinCoordStr_2=p.S172S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.start_1=33787971;refseq.start_2=33787971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr9 33788017 . A G 273.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=97.44;MQ0=1;OQ=7737.96;QD=32.79;RankSumP=1.00000;SB=-2997.42;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.391A>G;refseq.codingCoordStr_2=c.562A>G;refseq.codonCoord_1=131;refseq.codonCoord_2=188;refseq.end_1=33788017;refseq.end_2=33788017;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=562;refseq.name2_1=PRSS3;refseq.name2_2=PRSS3;refseq.name_1=NM_002771;refseq.name_2=NM_007343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T131A;refseq.proteinCoordStr_2=p.T188A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=33788017;refseq.start_2=33788017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr9 33917869 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2297A>C;refseq.codonCoord=766;refseq.end=33917869;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2410;refseq.name=NM_018449;refseq.name2=UBAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N766T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-75;refseq.start=33917869;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 33917899 . G A 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=16.77;MQ=97.99;MQ0=0;OQ=5084.89;QD=27.64;RankSumP=1.00000;SB=-533.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2267C>T;refseq.codonCoord=756;refseq.end=33917899;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2380;refseq.name=NM_018449;refseq.name2=UBAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A756V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=92;refseq.start=33917899;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr9 33931759 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=19.96;MQ=98.67;MQ0=0;OQ=18401.00;QD=41.54;RankSumP=1.00000;SB=-9009.09;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1817A>G;refseq.codonCoord=606;refseq.end=33931759;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1930;refseq.name=NM_018449;refseq.name2=UBAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N606S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=102;refseq.start=33931759;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr9 33934421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1487A>C;refseq.codonCoord=496;refseq.end=33934421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1600;refseq.name=NM_018449;refseq.name2=UBAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H496P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-59;refseq.start=33934421;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 34078399 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1311A>G;refseq.codonCoord=437;refseq.end=34078399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1653;refseq.name=NM_015397;refseq.name2=DCAF12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G437G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=108;refseq.start=34078399;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 34097504 . C T 220.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.49;MQ0=0;OQ=5341.59;QD=20.87;RankSumP=0.0966790;SB=-1380.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.393G>A;refseq.codonCoord=131;refseq.end=34097504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_015397;refseq.name2=DCAF12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R131R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=60;refseq.start=34097504;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr9 34333281 . C G 75 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=61;Dels=0.00;HRun=2;HaplotypeScore=2.57;MQ=93.22;MQ0=0;QD=0.38;RankSumP=7.09389e-05;SB=80.30;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.287C>G;refseq.codingCoordStr_2=c.287C>G;refseq.codingCoordStr_3=c.287C>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.codonCoord_3=96;refseq.end_1=34333281;refseq.end_2=34333281;refseq.end_3=34333281;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=645;refseq.mrnaCoord_2=574;refseq.mrnaCoord_3=532;refseq.name2_1=NUDT2;refseq.name2_2=NUDT2;refseq.name2_3=NUDT2;refseq.name_1=NM_001161;refseq.name_2=NM_147172;refseq.name_3=NM_147173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A96G;refseq.proteinCoordStr_2=p.A96G;refseq.proteinCoordStr_3=p.A96G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=160;refseq.spliceDist_2=160;refseq.spliceDist_3=160;refseq.start_1=34333281;refseq.start_2=34333281;refseq.start_3=34333281;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr9 34333284 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=7.64095e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.290A>G;refseq.codingCoordStr_2=c.290A>G;refseq.codingCoordStr_3=c.290A>G;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.codonCoord_3=97;refseq.end_1=34333284;refseq.end_2=34333284;refseq.end_3=34333284;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=648;refseq.mrnaCoord_2=577;refseq.mrnaCoord_3=535;refseq.name2_1=NUDT2;refseq.name2_2=NUDT2;refseq.name2_3=NUDT2;refseq.name_1=NM_001161;refseq.name_2=NM_147172;refseq.name_3=NM_147173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E97G;refseq.proteinCoordStr_2=p.E97G;refseq.proteinCoordStr_3=p.E97G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=163;refseq.spliceDist_2=163;refseq.spliceDist_3=163;refseq.start_1=34333284;refseq.start_2=34333284;refseq.start_3=34333284;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr9 34369679 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.754T>C;refseq.codingCoordStr_2=c.349T>C;refseq.codingCoordStr_3=c.195T>C;refseq.codonCoord_1=252;refseq.codonCoord_2=117;refseq.codonCoord_3=65;refseq.end_1=34369679;refseq.end_2=34369679;refseq.end_3=34369679;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=972;refseq.mrnaCoord_2=514;refseq.mrnaCoord_3=360;refseq.name2_1=C9orf24;refseq.name2_2=C9orf24;refseq.name2_3=C9orf24;refseq.name_1=NM_032596;refseq.name_2=NM_147168;refseq.name_3=NM_147169;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S252P;refseq.proteinCoordStr_2=p.S117P;refseq.proteinCoordStr_3=p.T65T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=34369679;refseq.start_2=34369679;refseq.start_3=34369679;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Thr;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr9 34387545 . A G 288.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=98.86;MQ0=0;OQ=2684.58;QD=15.98;RankSumP=0.00183039;SB=-915.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.87T>C;refseq.codonCoord=29;refseq.end=34387545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_032596;refseq.name2=C9orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y29Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-49;refseq.start=34387545;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 0/1 chr9 34479449 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.chr=chr9;refseq.codingCoordStr=c.388+2;refseq.end=34479449;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_012144;refseq.name2=DNAI1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=34479449;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr9 34511508 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.186A>C;refseq.codonCoord=62;refseq.end=34511508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_198573;refseq.name2=ENHO;refseq.positionType=CDS;refseq.proteinCoordStr=p.P62P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=347;refseq.start=34511508;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 34983229 . T G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=6.59667e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.101T>G;refseq.codingCoordStr_2=c.215T>G;refseq.codingCoordStr_3=c.-2T>G;refseq.codonCoord_1=34;refseq.codonCoord_2=72;refseq.end_1=34983229;refseq.end_2=34983229;refseq.end_3=34983229;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=282;refseq.mrnaCoord_2=576;refseq.mrnaCoord_3=137;refseq.name2_1=DNAJB5;refseq.name2_2=DNAJB5;refseq.name2_3=DNAJB5;refseq.name_1=NM_001135004;refseq.name_2=NM_001135005;refseq.name_3=NM_012266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.V34G;refseq.proteinCoordStr_2=p.V72G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=34983229;refseq.start_2=34983229;refseq.start_3=34983229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr9 35033291 . G T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=435;Dels=0.00;HRun=1;HaplotypeScore=18.74;MQ=98.69;MQ0=0;OQ=16736.52;QD=38.47;RankSumP=1.00000;SB=-5588.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.560G>T;refseq.codingCoordStr_2=c.446G>T;refseq.codingCoordStr_3=c.521G>T;refseq.codingCoordStr_4=c.665G>T;refseq.codonCoord_1=187;refseq.codonCoord_2=149;refseq.codonCoord_3=174;refseq.codonCoord_4=222;refseq.end_1=35033291;refseq.end_2=35033291;refseq.end_3=35033291;refseq.end_4=35033291;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=589;refseq.mrnaCoord_2=486;refseq.mrnaCoord_3=561;refseq.mrnaCoord_4=694;refseq.name2_1=C9orf131;refseq.name2_2=C9orf131;refseq.name2_3=C9orf131;refseq.name2_4=C9orf131;refseq.name_1=NM_001040410;refseq.name_2=NM_001040411;refseq.name_3=NM_001040412;refseq.name_4=NM_203299;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.W187L;refseq.proteinCoordStr_2=p.W149L;refseq.proteinCoordStr_3=p.W174L;refseq.proteinCoordStr_4=p.W222L;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.spliceDist_1=434;refseq.spliceDist_2=434;refseq.spliceDist_3=434;refseq.spliceDist_4=434;refseq.start_1=35033291;refseq.start_2=35033291;refseq.start_3=35033291;refseq.start_4=35033291;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=Intersection GT 1/1 chr9 35079137 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3222T>G;refseq.codingCoordStr_2=c.1971T>G;refseq.codonCoord_1=1074;refseq.codonCoord_2=657;refseq.end_1=35079137;refseq.end_2=35079137;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3618;refseq.mrnaCoord_2=1994;refseq.name2_1=PIGO;refseq.name2_2=PIGO;refseq.name_1=NM_032634;refseq.name_2=NM_152850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1074G;refseq.proteinCoordStr_2=p.G657G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.start_1=35079137;refseq.start_2=35079137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr9 35080594 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.63792e-06;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2723A>C;refseq.codingCoordStr_2=c.1472A>C;refseq.codonCoord_1=908;refseq.codonCoord_2=491;refseq.end_1=35080594;refseq.end_2=35080594;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3119;refseq.mrnaCoord_2=1495;refseq.name2_1=PIGO;refseq.name2_2=PIGO;refseq.name_1=NM_032634;refseq.name_2=NM_152850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H908P;refseq.proteinCoordStr_2=p.H491P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.start_1=35080594;refseq.start_2=35080594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr9 35083527 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.830A>G;refseq.codingCoordStr_2=c.830A>G;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.end_1=35083527;refseq.end_2=35083527;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1226;refseq.mrnaCoord_2=853;refseq.name2_1=PIGO;refseq.name2_2=PIGO;refseq.name_1=NM_032634;refseq.name_2=NM_152850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D277G;refseq.proteinCoordStr_2=p.D277G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=35083527;refseq.start_2=35083527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr9 35085103 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=235;Dels=0.00;HRun=2;HaplotypeScore=13.12;MQ=98.56;MQ0=0;OQ=50.88;QD=0.22;RankSumP=0.00000;SB=471.62;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.460G>C;refseq.codingCoordStr_2=c.460G>C;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=35085103;refseq.end_2=35085103;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=856;refseq.mrnaCoord_2=483;refseq.name2_1=PIGO;refseq.name2_2=PIGO;refseq.name_1=NM_032634;refseq.name_2=NM_152850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A154P;refseq.proteinCoordStr_2=p.A154P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=35085103;refseq.start_2=35085103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr9 35085105 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.458T>C;refseq.codingCoordStr_2=c.458T>C;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=35085105;refseq.end_2=35085105;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=854;refseq.mrnaCoord_2=481;refseq.name2_1=PIGO;refseq.name2_2=PIGO;refseq.name_1=NM_032634;refseq.name_2=NM_152850;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F153S;refseq.proteinCoordStr_2=p.F153S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=35085105;refseq.start_2=35085105;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr9 35097646 . C A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.000179415;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.626G>T;refseq.codonCoord=209;refseq.end=35097646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_025182;refseq.name2=KIAA1539;refseq.positionType=CDS;refseq.proteinCoordStr=p.G209V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-269;refseq.start=35097646;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr9 35097658 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.614T>G;refseq.codonCoord=205;refseq.end=35097658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_025182;refseq.name2=KIAA1539;refseq.positionType=CDS;refseq.proteinCoordStr=p.V205G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-281;refseq.start=35097658;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 35097765 . C A 159.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=4.75;MQ=98.88;MQ0=0;OQ=5849.31;QD=35.24;RankSumP=1.00000;SB=-1589.88;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.507G>T;refseq.codonCoord=169;refseq.end=35097765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_025182;refseq.name2=KIAA1539;refseq.positionType=CDS;refseq.proteinCoordStr=p.G169G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-388;refseq.start=35097765;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr9 35097858 . C T 364.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=1551.30;QD=40.82;RankSumP=1.00000;SB=-604.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.414G>A;refseq.codonCoord=138;refseq.end=35097858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_025182;refseq.name2=KIAA1539;refseq.positionType=CDS;refseq.proteinCoordStr=p.S138S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-481;refseq.start=35097858;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr9 35300492 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.790T>C;refseq.codonCoord=264;refseq.end=35300492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_006377;refseq.name2=UNC13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S264P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=29;refseq.start=35300492;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 35536620 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.102T>G;refseq.codingCoordStr_2=c.102T>G;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=35536620;refseq.end_2=35536620;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=671;refseq.mrnaCoord_2=357;refseq.name2_1=RUSC2;refseq.name2_2=RUSC2;refseq.name_1=NM_001135999;refseq.name_2=NM_014806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G34G;refseq.proteinCoordStr_2=p.G34G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=194;refseq.spliceDist_2=194;refseq.start_1=35536620;refseq.start_2=35536620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr9 35536735 . A G 309.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=98.54;MQ0=0;OQ=11985.80;QD=40.77;RankSumP=1.00000;SB=-5566.23;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.217A>G;refseq.codingCoordStr_2=c.217A>G;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=35536735;refseq.end_2=35536735;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=786;refseq.mrnaCoord_2=472;refseq.name2_1=RUSC2;refseq.name2_2=RUSC2;refseq.name_1=NM_001135999;refseq.name_2=NM_014806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T73A;refseq.proteinCoordStr_2=p.T73A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=309;refseq.spliceDist_2=309;refseq.start_1=35536735;refseq.start_2=35536735;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr9 35537077 . A C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500023;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.559A>C;refseq.codingCoordStr_2=c.559A>C;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.end_1=35537077;refseq.end_2=35537077;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1128;refseq.mrnaCoord_2=814;refseq.name2_1=RUSC2;refseq.name2_2=RUSC2;refseq.name_1=NM_001135999;refseq.name_2=NM_014806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T187P;refseq.proteinCoordStr_2=p.T187P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=651;refseq.spliceDist_2=651;refseq.start_1=35537077;refseq.start_2=35537077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr9 35538494 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=2.45903e-06;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1976A>C;refseq.codingCoordStr_2=c.1976A>C;refseq.codonCoord_1=659;refseq.codonCoord_2=659;refseq.end_1=35538494;refseq.end_2=35538494;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2545;refseq.mrnaCoord_2=2231;refseq.name2_1=RUSC2;refseq.name2_2=RUSC2;refseq.name_1=NM_001135999;refseq.name_2=NM_014806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N659T;refseq.proteinCoordStr_2=p.N659T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=35538494;refseq.start_2=35538494;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr9 35545458 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=27.02;MQ=98.21;MQ0=0;OQ=2241.31;QD=12.66;RankSumP=0.498876;SB=-985.46;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2416G>A;refseq.codingCoordStr_2=c.2416G>A;refseq.codonCoord_1=806;refseq.codonCoord_2=806;refseq.end_1=35545458;refseq.end_2=35545458;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2985;refseq.mrnaCoord_2=2671;refseq.name2_1=RUSC2;refseq.name2_2=RUSC2;refseq.name_1=NM_001135999;refseq.name_2=NM_014806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E806K;refseq.proteinCoordStr_2=p.E806K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-241;refseq.spliceDist_2=-241;refseq.start_1=35545458;refseq.start_2=35545458;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr9 35650990 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=865.86;QD=15.46;RankSumP=0.731636;SB=-347.62;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.*994T>C;refseq.codingCoordStr_2=c.658A>G;refseq.codonCoord_2=220;refseq.end_1=35650990;refseq.end_2=35650990;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2114;refseq.mrnaCoord_2=724;refseq.name2_1=C9orf100;refseq.name2_2=CCDC107;refseq.name_1=NM_032818;refseq.name_2=NM_174923;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I220V;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=1010;refseq.spliceDist_2=-195;refseq.start_1=35650990;refseq.start_2=35650990;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr9 35652251 . T C 317.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=98.91;MQ0=0;OQ=6423.83;QD=16.60;RankSumP=0.324809;SB=-1558.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.917A>G;refseq.codonCoord=306;refseq.end=35652251;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_032818;refseq.name2=C9orf100;refseq.positionType=CDS;refseq.proteinCoordStr=p.H306R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=14;refseq.start=35652251;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr9 35695759 . G A 333.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=491;Dels=0.00;HRun=0;HaplotypeScore=9.34;MQ=98.70;MQ0=0;OQ=9567.22;QD=19.49;RankSumP=0.299234;SB=-3034.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.5601C>T;refseq.codonCoord=1867;refseq.end=35695759;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5955;refseq.name=NM_006289;refseq.name2=TLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1867T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=35695759;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr9 35702003 . G A 235.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=8.08;MQ=98.61;MQ0=0;OQ=5078.07;QD=17.39;RankSumP=0.212418;SB=-1882.16;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3680C>T;refseq.codonCoord=1227;refseq.end=35702003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4034;refseq.name=NM_006289;refseq.name2=TLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1227L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=35702003;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr9 35703015 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=56;Dels=0.00;HRun=3;HaplotypeScore=5.08;MQ=96.67;MQ0=0;QD=0.68;RankSumP=0.500000;SB=68.23;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3378T>G;refseq.codonCoord=1126;refseq.end=35703015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3732;refseq.name=NM_006289;refseq.name2=TLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1126G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=26;refseq.start=35703015;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr9 35707293 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2308G>C;refseq.codonCoord=770;refseq.end=35707293;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2662;refseq.name=NM_006289;refseq.name2=TLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A770P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=145;refseq.start=35707293;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr9 35715610 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.82G>C;refseq.codonCoord=28;refseq.end=35715610;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_006289;refseq.name2=TLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A28P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-49;refseq.start=35715610;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 35723415 . C A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.297029;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.368C>A;refseq.codonCoord=123;refseq.end=35723415;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_006368;refseq.name2=CREB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T123K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=23;refseq.start=35723415;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr9 35782423 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=97.68;MQ0=0;OQ=280.55;QD=5.97;RankSumP=0.418333;SB=-28.88;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.18T>C;refseq.codonCoord=6;refseq.end=35782423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=18;refseq.name=NM_003995;refseq.name2=NPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L6L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=18;refseq.start=35782423;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr9 35791943 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=6.21361e-08;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1578G>C;refseq.codonCoord=526;refseq.end=35791943;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_003995;refseq.name2=NPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S526S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=21;refseq.start=35791943;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr9 35792583 . C T 264.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=1;HaplotypeScore=6.22;MQ=98.90;MQ0=0;OQ=7413.50;QD=20.31;RankSumP=0.140676;SB=-1872.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1794C>T;refseq.codonCoord=598;refseq.end=35792583;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1794;refseq.name=NM_003995;refseq.name2=NPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y598Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-22;refseq.start=35792583;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr9 35816038 . T C 119.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.73;MQ0=0;OQ=3203.48;QD=19.42;RankSumP=0.429537;SB=-1111.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.121A>G;refseq.codonCoord=41;refseq.end=35816038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_001012446;refseq.name2=C9orf128;refseq.positionType=CDS;refseq.proteinCoordStr=p.K41E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=121;refseq.start=35816038;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr9 35816058 . T C 158.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.65;MQ0=0;OQ=2083.86;QD=16.41;RankSumP=0.250596;SB=-945.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.101A>G;refseq.codonCoord=34;refseq.end=35816058;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_001012446;refseq.name2=C9orf128;refseq.positionType=CDS;refseq.proteinCoordStr=p.H34R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=101;refseq.start=35816058;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr9 35860001 . T C 217.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=5.23;MQ=97.34;MQ0=0;OQ=7343.20;QD=32.93;RankSumP=1.00000;SB=-3604.74;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.398A>G;refseq.codonCoord=133;refseq.end=35860001;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001004487;refseq.name2=OR13J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H133R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=398;refseq.start=35860001;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr9 35860225 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=142;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=97.37;MQ0=0;OQ=1719.30;QD=12.11;RankSumP=0.241111;SB=-810.21;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.174C>T;refseq.codonCoord=58;refseq.end=35860225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_001004487;refseq.name2=OR13J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P58P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=174;refseq.start=35860225;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr9 36095264 . A G 265.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=10.72;MQ=98.75;MQ0=0;OQ=8302.40;QD=17.70;RankSumP=0.0908259;SB=-3435.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1560A>G;refseq.codonCoord=520;refseq.end=36095264;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1646;refseq.name=NM_021111;refseq.name2=RECK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P520P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-17;refseq.start=36095264;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr9 36100063 . T A 153.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.92;MQ0=0;OQ=4147.98;QD=16.46;RankSumP=0.432687;SB=-616.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1875T>A;refseq.codonCoord=625;refseq.end=36100063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1961;refseq.name=NM_021111;refseq.name2=RECK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R625R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-14;refseq.start=36100063;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr9 36342789 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1128G>C;refseq.codingCoordStr_2=c.879G>C;refseq.codingCoordStr_3=c.978G>C;refseq.codingCoordStr_4=c.879G>C;refseq.codingCoordStr_5=c.879G>C;refseq.codonCoord_1=376;refseq.codonCoord_2=293;refseq.codonCoord_3=326;refseq.codonCoord_4=293;refseq.codonCoord_5=293;refseq.end_1=36342789;refseq.end_2=36342789;refseq.end_3=36342789;refseq.end_4=36342789;refseq.end_5=36342789;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1486;refseq.mrnaCoord_3=1169;refseq.mrnaCoord_4=1217;refseq.mrnaCoord_5=1336;refseq.name2_1=RNF38;refseq.name2_2=RNF38;refseq.name2_3=RNF38;refseq.name2_4=RNF38;refseq.name2_5=RNF38;refseq.name_1=NM_022781;refseq.name_2=NM_194328;refseq.name_3=NM_194329;refseq.name_4=NM_194330;refseq.name_5=NM_194332;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q376H;refseq.proteinCoordStr_2=p.Q293H;refseq.proteinCoordStr_3=p.Q326H;refseq.proteinCoordStr_4=p.Q293H;refseq.proteinCoordStr_5=p.Q293H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.spliceDist_5=-51;refseq.start_1=36342789;refseq.start_2=36342789;refseq.start_3=36342789;refseq.start_4=36342789;refseq.start_5=36342789;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=FilteredInAll GT 1/0 chr9 36589393 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.477T>G;refseq.codonCoord=159;refseq.end=36589393;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=615;refseq.name=NM_014791;refseq.name2=MELK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=36589393;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 36830623 . G A 119.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=91.06;MQ0=0;OQ=509.70;QD=36.41;RankSumP=1.00000;SB=-142.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1110C>T;refseq.codonCoord=370;refseq.end=36830623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_016734;refseq.name2=PAX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y370Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=11;refseq.start=36830623;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr9 37419814 . A G 306.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.69;MQ0=0;OQ=4681.99;QD=37.76;RankSumP=1.00000;SB=-1878.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.579A>G;refseq.codonCoord=193;refseq.end=37419814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_012203;refseq.name2=GRHPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A193A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-20;refseq.start=37419814;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 37431313 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=253;Dels=0.00;HRun=1;HaplotypeScore=7.26;MQ=98.86;MQ0=0;OQ=5124.86;QD=20.26;RankSumP=0.368519;SB=-2115.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1236T>C;refseq.codonCoord=412;refseq.end=37431313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1436;refseq.name=NM_014872;refseq.name2=ZBTB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F412F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=1240;refseq.start=37431313;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr9 37431650 . T C 113.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1398.41;QD=15.37;RankSumP=0.168148;SB=-646.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.899A>G;refseq.codonCoord=300;refseq.end=37431650;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_014872;refseq.name2=ZBTB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D300G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=903;refseq.start=37431650;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr9 37431808 . A G 410.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.72;MQ0=0;OQ=5095.98;QD=37.47;RankSumP=1.00000;SB=-2277.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=37431808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_014872;refseq.name2=ZBTB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D247D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=745;refseq.start=37431808;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr9 37479378 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=20.86;MQ=98.71;MQ0=0;OQ=2447.91;QD=7.44;RankSumP=0.342819;SB=-559.55;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.324C>T;refseq.codonCoord=108;refseq.end=37479378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_022490;refseq.name2=POLR1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.N108N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-20;refseq.start=37479378;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr9 37493124 . G A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=13.13;MQ=98.56;MQ0=0;OQ=4200.04;QD=41.18;RankSumP=1.00000;SB=-907.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1185G>A;refseq.codonCoord=395;refseq.end=37493124;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1285;refseq.name=NM_022490;refseq.name2=POLR1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.K395K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=85;refseq.start=37493124;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr9 37725680 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.64;MQ0=0;OQ=2303.67;QD=19.86;RankSumP=0.309634;SB=-73.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1350G>A;refseq.codonCoord=450;refseq.end=37725680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_014907;refseq.name2=FRMPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T450T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-52;refseq.start=37725680;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 37727165 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1474T>G;refseq.codonCoord=492;refseq.end=37727165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_014907;refseq.name2=FRMPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L492V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=73;refseq.start=37727165;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr9 37730490 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.198877;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1965C>T;refseq.codonCoord=655;refseq.end=37730490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_014907;refseq.name2=FRMPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F655F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-392;refseq.start=37730490;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr9 37730637 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=4.80;MQ=98.16;MQ0=0;OQ=1119.90;QD=10.77;RankSumP=0.0871931;SB=-238.65;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2112T>C;refseq.codonCoord=704;refseq.end=37730637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2156;refseq.name=NM_014907;refseq.name2=FRMPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A704A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-245;refseq.start=37730637;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr9 37772111 . C T 269.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=95.62;MQ0=4;OQ=6847.40;QD=20.44;RankSumP=0.0793766;SB=-1896.78;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.498G>A;refseq.codonCoord_2=166;refseq.end_1=37773900;refseq.end_2=37772111;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=522;refseq.name2_1=EXOSC3;refseq.name2_2=EXOSC3;refseq.name_1=NM_001002269;refseq.name_2=NM_016042;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q166Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=24;refseq.start_1=37770888;refseq.start_2=37772111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr9 37878101 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=681;Dels=0.00;HRun=2;HaplotypeScore=14.94;MQ=49.06;MQ0=15;OQ=14368.55;QD=21.10;RankSumP=0.0321382;SB=-5263.23;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.447G>A;refseq.codonCoord_3=149;refseq.end_1=37889815;refseq.end_2=37889815;refseq.end_3=37878101;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=897;refseq.name2_1=MCART1;refseq.name2_2=MCART1;refseq.name2_3=MCART1;refseq.name_1=NR_024872;refseq.name_2=NR_024873;refseq.name_3=NM_033412;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K149K;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAG;refseq.spliceDist_3=489;refseq.start_1=37871639;refseq.start_2=37871639;refseq.start_3=37878101;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr9 37938724 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=2;HaplotypeScore=11.53;MQ=98.39;MQ0=0;OQ=2479.04;QD=18.78;RankSumP=0.0801713;SB=-1159.24;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1254A>G;refseq.codonCoord=418;refseq.end=37938724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1822;refseq.name=NM_003028;refseq.name2=SHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G418G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=28;refseq.start=37938724;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr9 37964743 . T C 205.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=98.11;MQ0=0;OQ=4386.63;QD=34.00;RankSumP=1.00000;SB=-2149.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.930A>G;refseq.codonCoord=310;refseq.end=37964743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_003028;refseq.name2=SHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S310S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=92;refseq.start=37964743;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr9 38058532 . A G 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=90.00;QD=30.00;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.111T>C;refseq.codonCoord=37;refseq.end=38058532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_003028;refseq.name2=SHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P37P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-607;refseq.start=38058532;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/1 chr9 38385940 . T C 143.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=9.94;MQ=98.45;MQ0=0;OQ=13460.98;QD=34.87;RankSumP=1.00000;SB=-5175.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.195T>C;refseq.codonCoord=65;refseq.end=38385940;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_000692;refseq.name2=ALDH1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I65I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=204;refseq.start=38385940;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr9 38386065 . G T 126.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=8.23;MQ=98.51;MQ0=0;OQ=4665.86;QD=30.50;RankSumP=1.00000;SB=-1738.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.320G>T;refseq.codonCoord=107;refseq.end=38386065;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_000692;refseq.name2=ALDH1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R107L;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=329;refseq.start=38386065;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 38386502 . G A 191.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=365.48;QD=33.23;RankSumP=1.00000;SB=-114.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.757G>A;refseq.codonCoord=253;refseq.end=38386502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_000692;refseq.name2=ALDH1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V253M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=766;refseq.start=38386502;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr9 39093743 . C T 300.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=10.60;MQ=78.77;MQ0=3;OQ=3233.06;QD=16.17;RankSumP=0.196782;SB=-1507.86;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2534G>A;refseq.codonCoord=845;refseq.end=39093743;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2773;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R845H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=39093743;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr9 39093775 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=293;Dels=0.00;HRun=0;HaplotypeScore=12.84;MQ=62.91;MQ0=78;OQ=1570.47;QD=5.36;RankSumP=0.0405222;SB=-558.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2502G>C;refseq.codonCoord=834;refseq.end=39093775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2741;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L834L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-35;refseq.start=39093775;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr9 39093904 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.168667;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2373C>T;refseq.codonCoord=791;refseq.end=39093904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2612;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F791F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=39093904;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr9 39108109 . C A 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.282190;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2228G>T;refseq.codonCoord=743;refseq.end=39108109;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2467;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R743L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=39108109;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr9 39108196 . C A 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=682;Dels=0.00;HRun=2;HaplotypeScore=85.48;MQ=28.66;MQ0=617;OQ=2406.99;QD=3.53;RankSumP=0.0169520;SB=-1035.07;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2141G>T;refseq.codonCoord=714;refseq.end=39108196;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2380;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G714V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=61;refseq.start=39108196;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 1/0 chr9 39108205 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=611;Dels=0.00;HRun=0;HaplotypeScore=79.92;MQ=29.70;MQ0=537;OQ=2588.79;QD=4.24;RankSumP=0.0728712;SB=-1298.53;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2132C>A;refseq.codonCoord=711;refseq.end=39108205;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2371;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S711Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=52;refseq.start=39108205;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap-filterIngatk GT 0/1 chr9 39108207 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=627;Dels=0.00;HRun=1;HaplotypeScore=62.28;MQ=29.35;MQ0=541;OQ=3381.44;QD=5.39;RankSumP=0.577001;SB=-1417.24;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2130T>C;refseq.codonCoord=710;refseq.end=39108207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2369;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T710T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=50;refseq.start=39108207;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr9 39139926 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.700000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1526G>T;refseq.codonCoord=509;refseq.end=39139926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1765;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G509V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=49;refseq.start=39139926;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr9 39277976 . C T 10.16 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=1.62;MQ0=151;QD=0.07;SB=-10.00;refseq.chr=chr9;refseq.codingCoordStr=c.85+1;refseq.end=39277976;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_033655;refseq.name2=CNTNAP3;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=39277976;refseq.transcriptStrand=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:120,31:1:-4.26,-0.30,-0.00:1.76 chr9 39878206 . T C,G 49 PASS AC=0,2;AF=0.00,1.00;AN=2;BestBaseQ=33;DP=63;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=11.39;MQ0=61;QD=0.20;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;set=soap-filterIngatk GT 2/2 chr9 39878207 . C T 10.26 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=11.39;MQ0=61;QD=0.16;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1194C>T;refseq.codingCoordStr_2=c.1194C>T;refseq.codonCoord_1=398;refseq.codonCoord_2=398;refseq.end_1=39878207;refseq.end_2=39878207;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1223;refseq.mrnaCoord_2=1223;refseq.name2_1=FAM75A2;refseq.name2_2=FAM75A1;refseq.name_1=NM_001040065;refseq.name_2=NM_001085452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F398F;refseq.proteinCoordStr_2=p.F398F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=886;refseq.spliceDist_2=886;refseq.start_1=39878207;refseq.start_2=39878207;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:62,1:1:-4.27,-0.30,-0.00:1.76 chr9 39878224 . G T 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1211G>T;refseq.codingCoordStr_2=c.1211G>T;refseq.codonCoord_1=404;refseq.codonCoord_2=404;refseq.end_1=39878224;refseq.end_2=39878224;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1240;refseq.mrnaCoord_2=1240;refseq.name2_1=FAM75A2;refseq.name2_2=FAM75A1;refseq.name_1=NM_001040065;refseq.name_2=NM_001085452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W404L;refseq.proteinCoordStr_2=p.W404L;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=903;refseq.spliceDist_2=903;refseq.start_1=39878224;refseq.start_2=39878224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=soap GT 1/1 chr9 39880330 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3317C>T;refseq.codingCoordStr_2=c.3317C>T;refseq.codonCoord_1=1106;refseq.codonCoord_2=1106;refseq.end_1=39880330;refseq.end_2=39880330;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3346;refseq.mrnaCoord_2=3346;refseq.name2_1=FAM75A2;refseq.name2_2=FAM75A1;refseq.name_1=NM_001040065;refseq.name_2=NM_001085452;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1106L;refseq.proteinCoordStr_2=p.P1106L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-881;refseq.spliceDist_2=-878;refseq.start_1=39880330;refseq.start_2=39880330;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=FilteredInAll GT 1/1 chr9 40705882 . G T 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=20.49;MQ0=32;OQ=179.05;QD=3.20;RankSumP=1.00000;SB=-34.35;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=40705882;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=359;refseq.name=NR_026801;refseq.name2=FAM74A3;refseq.positionType=non_coding_exon;refseq.spliceDist=359;refseq.start=40705882;refseq.transcriptStrand=+;set=soap-filterIngatk GT 1/1 chr9 40705896 . T A 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=88;Dels=0.00;HRun=0;HaplotypeScore=7.39;MQ=26.32;MQ0=38;OQ=667.87;QD=7.59;RankSumP=1.00000;SB=-202.23;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=40705896;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=373;refseq.name=NR_026801;refseq.name2=FAM74A3;refseq.positionType=non_coding_exon;refseq.spliceDist=373;refseq.start=40705896;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr9 40706195 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=40706195;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=672;refseq.name=NR_026801;refseq.name2=FAM74A3;refseq.positionType=non_coding_exon;refseq.spliceDist=-117;refseq.start=40706195;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chr9 40706224 . C A 8 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=609;Dels=0.00;HRun=1;HaplotypeScore=20.88;MQ=14.97;MQ0=282;OQ=916.72;QD=1.51;RankSumP=1.00000;SB=-174.77;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=40706224;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=701;refseq.name=NR_026801;refseq.name2=FAM74A3;refseq.positionType=non_coding_exon;refseq.spliceDist=-88;refseq.start=40706224;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 1/1 chr9 40762757 . G C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2518C>G;refseq.codonCoord=840;refseq.end=40762757;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2670;refseq.name=NM_033160;refseq.name2=ZNF658;refseq.positionType=CDS;refseq.proteinCoordStr=p.H840D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1356;refseq.start=40762757;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/1 chr9 40763337 . C T 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DP=654;Dels=0.00;HRun=2;HaplotypeScore=3.31;MQ=18.65;MQ0=255;OQ=8411.98;QD=12.86;RankSumP=1.00000;SB=-3282.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1938G>A;refseq.codonCoord=646;refseq.end=40763337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2090;refseq.name=NM_033160;refseq.name2=ZNF658;refseq.positionType=CDS;refseq.proteinCoordStr=p.K646K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1700;refseq.start=40763337;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/1 chr9 40774183 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=62.71;MQ0=11;OQ=943.48;QD=6.79;RankSumP=0.246283;SB=-161.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.162T>C;refseq.codonCoord=54;refseq.end=40774183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_033160;refseq.name2=ZNF658;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=20;refseq.start=40774183;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr9 42358545 . C T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=15.79;MQ0=178;OQ=981.66;QD=3.18;RankSumP=0.607143;SB=14.07;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.135C>T;refseq.codingCoordStr_2=c.135C>T;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.end_1=42358545;refseq.end_2=42358545;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=247;refseq.mrnaCoord_2=247;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D45D;refseq.proteinCoordStr_2=p.D45D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.start_1=42358545;refseq.start_2=42358545;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr9 42358596 . C T 8.74 PASS AC=1;AF=0.50;AN=2;DP=176;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=21.69;MQ0=26;OQ=2295.79;QD=13.04;SB=-253.79;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.186C>T;refseq.codingCoordStr_2=c.186C>T;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=42358596;refseq.end_2=42358596;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=298;refseq.mrnaCoord_2=298;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A62A;refseq.proteinCoordStr_2=p.A62A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=42358596;refseq.start_2=42358596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=gatk GT:AD:DP:GL:GQ 0/1:68,108:103:-263.88,-31.02,-170.90:99 chr9 42366280 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.186554;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.516T>C;refseq.codingCoordStr_2=c.516T>C;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=42366280;refseq.end_2=42366280;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=628;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F172F;refseq.proteinCoordStr_2=p.F172F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=42366280;refseq.start_2=42366280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 1/0 chr9 42366327 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.0947332;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.563G>A;refseq.codingCoordStr_2=c.563G>A;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.end_1=42366327;refseq.end_2=42366327;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=675;refseq.mrnaCoord_2=675;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R188K;refseq.proteinCoordStr_2=p.R188K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=42366327;refseq.start_2=42366327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 1/0 chr9 42400417 . A G 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2410A>G;refseq.codingCoordStr_2=c.2410A>G;refseq.codonCoord_1=804;refseq.codonCoord_2=804;refseq.end_1=42400417;refseq.end_2=42400417;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2522;refseq.mrnaCoord_2=2522;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T804A;refseq.proteinCoordStr_2=p.T804A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=913;refseq.spliceDist_2=913;refseq.start_1=42400417;refseq.start_2=42400417;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/1 chr9 42400423 . G A 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2416G>A;refseq.codingCoordStr_2=c.2416G>A;refseq.codonCoord_1=806;refseq.codonCoord_2=806;refseq.end_1=42400423;refseq.end_2=42400423;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2528;refseq.mrnaCoord_2=2528;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G806R;refseq.proteinCoordStr_2=p.G806R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=919;refseq.spliceDist_2=919;refseq.start_1=42400423;refseq.start_2=42400423;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 1/1 chr9 43081463 . A G 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.629167;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2357T>C;refseq.codingCoordStr_2=c.2357T>C;refseq.codonCoord_1=786;refseq.codonCoord_2=786;refseq.end_1=43081463;refseq.end_2=43081463;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2469;refseq.mrnaCoord_2=2469;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M786T;refseq.proteinCoordStr_2=p.M786T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=860;refseq.spliceDist_2=860;refseq.start_1=43081463;refseq.start_2=43081463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 0/1 chr9 43081541 . A G 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2279T>C;refseq.codingCoordStr_2=c.2279T>C;refseq.codonCoord_1=760;refseq.codonCoord_2=760;refseq.end_1=43081541;refseq.end_2=43081541;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2391;refseq.mrnaCoord_2=2391;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I760T;refseq.proteinCoordStr_2=p.I760T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=782;refseq.spliceDist_2=782;refseq.start_1=43081541;refseq.start_2=43081541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 1/1 chr9 43081728 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.161895;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2092G>A;refseq.codingCoordStr_2=c.2092G>A;refseq.codonCoord_1=698;refseq.codonCoord_2=698;refseq.end_1=43081728;refseq.end_2=43081728;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2204;refseq.mrnaCoord_2=2204;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D698N;refseq.proteinCoordStr_2=p.D698N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=595;refseq.spliceDist_2=595;refseq.start_1=43081728;refseq.start_2=43081728;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=soap GT 0/1 chr9 43081785 . G A 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.489633;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2035C>T;refseq.codingCoordStr_2=c.2035C>T;refseq.codonCoord_1=679;refseq.codonCoord_2=679;refseq.end_1=43081785;refseq.end_2=43081785;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2147;refseq.mrnaCoord_2=2147;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R679C;refseq.proteinCoordStr_2=p.R679C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=538;refseq.spliceDist_2=538;refseq.start_1=43081785;refseq.start_2=43081785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap GT 1/0 chr9 43081856 . T G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.800000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1964A>C;refseq.codingCoordStr_2=c.1964A>C;refseq.codonCoord_1=655;refseq.codonCoord_2=655;refseq.end_1=43081856;refseq.end_2=43081856;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2076;refseq.mrnaCoord_2=2076;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D655A;refseq.proteinCoordStr_2=p.D655A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=467;refseq.spliceDist_2=467;refseq.start_1=43081856;refseq.start_2=43081856;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 1/0 chr9 43081907 . C T 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1913G>A;refseq.codingCoordStr_2=c.1913G>A;refseq.codonCoord_1=638;refseq.codonCoord_2=638;refseq.end_1=43081907;refseq.end_2=43081907;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2025;refseq.mrnaCoord_2=2025;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R638Q;refseq.proteinCoordStr_2=p.R638Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=416;refseq.spliceDist_2=416;refseq.start_1=43081907;refseq.start_2=43081907;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 0/1 chr9 43095374 . C A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1076G>T;refseq.codingCoordStr_2=c.1076G>T;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=43095374;refseq.end_2=43095374;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1188;refseq.mrnaCoord_2=1188;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R359I;refseq.proteinCoordStr_2=p.R359I;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=43095374;refseq.start_2=43095374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=FilteredInAll GT 1/0 chr9 43114344 . G T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.339125;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.682C>A;refseq.codingCoordStr_2=c.682C>A;refseq.codonCoord_1=228;refseq.codonCoord_2=228;refseq.end_1=43114344;refseq.end_2=43114344;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=794;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q228K;refseq.proteinCoordStr_2=p.Q228K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=43114344;refseq.start_2=43114344;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap GT 0/1 chr9 43114347 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.726155;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.679G>A;refseq.codingCoordStr_2=c.679G>A;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.end_1=43114347;refseq.end_2=43114347;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=791;refseq.mrnaCoord_2=791;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A227T;refseq.proteinCoordStr_2=p.A227T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=43114347;refseq.start_2=43114347;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=soap GT 0/1 chr9 43114353 . C T 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.455529;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.673G>A;refseq.codingCoordStr_2=c.673G>A;refseq.codonCoord_1=225;refseq.codonCoord_2=225;refseq.end_1=43114353;refseq.end_2=43114353;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=785;refseq.mrnaCoord_2=785;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V225I;refseq.proteinCoordStr_2=p.V225I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=43114353;refseq.start_2=43114353;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr9 43114391 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.273708;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.635C>T;refseq.codingCoordStr_2=c.635C>T;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=43114391;refseq.end_2=43114391;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=747;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P212L;refseq.proteinCoordStr_2=p.P212L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=43114391;refseq.start_2=43114391;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=soap GT 1/0 chr9 43114414 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0419218;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.612G>A;refseq.codingCoordStr_2=c.612G>A;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.end_1=43114414;refseq.end_2=43114414;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=724;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M204I;refseq.proteinCoordStr_2=p.M204I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=43114414;refseq.start_2=43114414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=soap GT 0/1 chr9 43119573 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.700000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.382C>T;refseq.codingCoordStr_2=c.382C>T;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.end_1=43119573;refseq.end_2=43119573;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=494;refseq.mrnaCoord_2=494;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A2;refseq.name_1=NM_001012419;refseq.name_2=NM_001012421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L128F;refseq.proteinCoordStr_2=p.L128F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=43119573;refseq.start_2=43119573;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=soap GT 1/0 chr9 65243788 . G A 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3592C>T;refseq.codingCoordStr_2=c.3592C>T;refseq.codonCoord_1=1198;refseq.codonCoord_2=1198;refseq.end_1=65243788;refseq.end_2=65243788;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3621;refseq.mrnaCoord_2=3621;refseq.name2_1=FAM75A5;refseq.name2_2=FAM75A7;refseq.name_1=NM_001113541;refseq.name_2=NM_015667;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1198C;refseq.proteinCoordStr_2=p.R1198C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-606;refseq.spliceDist_2=-603;refseq.start_1=65243788;refseq.start_2=65243788;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap GT 1/1 chr9 65245380 . G A 46.25 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=867;Dels=0.00;HRun=0;HaplotypeScore=49.86;MQ=1.20;MQ0=865;QD=0.05;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2000C>T;refseq.codingCoordStr_2=c.2000C>T;refseq.codonCoord_1=667;refseq.codonCoord_2=667;refseq.end_1=65245380;refseq.end_2=65245380;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2029;refseq.mrnaCoord_2=2029;refseq.name2_1=FAM75A5;refseq.name2_2=FAM75A7;refseq.name_1=NM_001113541;refseq.name_2=NM_015667;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P667L;refseq.proteinCoordStr_2=p.P667L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=1692;refseq.spliceDist_2=1692;refseq.start_1=65245380;refseq.start_2=65245380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:776,88:2:-8.03,-0.60,-0.00:6.02 chr9 67516821 . A G 17 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=259;Dels=0.00;HRun=2;HaplotypeScore=16.08;MQ=5.72;MQ0=257;QD=0.04;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.129A>G;refseq.codingCoordStr_2=c.129A>G;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=67516821;refseq.end_2=67516821;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=241;refseq.mrnaCoord_2=241;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A1;refseq.name_1=NM_001012419;refseq.name_2=NM_032250;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K43K;refseq.proteinCoordStr_2=p.K43K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=67516821;refseq.start_2=67516821;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 1/1 chr9 67516835 . A G 17 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=273;Dels=0.00;HRun=2;HaplotypeScore=17.52;MQ=5.58;MQ0=270;QD=0.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.143A>G;refseq.codingCoordStr_2=c.143A>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=67516835;refseq.end_2=67516835;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=255;refseq.mrnaCoord_2=255;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A1;refseq.name_1=NM_001012419;refseq.name_2=NM_032250;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E48G;refseq.proteinCoordStr_2=p.E48G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=67516835;refseq.start_2=67516835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/1 chr9 67558278 rs2982939 G A 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=468;Dels=0.00;HRun=0;HaplotypeScore=8.96;MQ=11.57;MQ0=333;OQ=128.72;QD=0.28;SB=-54.73;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2017G>A;refseq.codingCoordStr_2=c.2017G>A;refseq.codonCoord_1=673;refseq.codonCoord_2=673;refseq.end_1=67558278;refseq.end_2=67558278;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2129;refseq.mrnaCoord_2=2129;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A1;refseq.name_1=NM_001012419;refseq.name_2=NM_032250;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A673T;refseq.proteinCoordStr_2=p.A673T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=520;refseq.spliceDist_2=520;refseq.start_1=67558278;refseq.start_2=67558278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:396,72:90:-43.26,-27.10,-319.80:99 chr9 67558296 . C T 2 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=522;Dels=0.00;HRun=0;HaplotypeScore=17.62;MQ=5.97;MQ0=484;OQ=658.31;QD=1.26;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2035C>T;refseq.codingCoordStr_2=c.2035C>T;refseq.codonCoord_1=679;refseq.codonCoord_2=679;refseq.end_1=67558296;refseq.end_2=67558296;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2147;refseq.mrnaCoord_2=2147;refseq.name2_1=ANKRD20A3;refseq.name2_2=ANKRD20A1;refseq.name_1=NM_001012419;refseq.name_2=NM_032250;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R679C;refseq.proteinCoordStr_2=p.R679C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=538;refseq.spliceDist_2=538;refseq.start_1=67558296;refseq.start_2=67558296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=filterInsoap-gatk GT 1/1 chr9 68528054 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=553;Dels=0.00;HRun=1;HaplotypeScore=10.31;MQ=87.29;MQ0=12;OQ=2717.42;QD=4.91;RankSumP=0.286905;SB=-636.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.658C>A;refseq.codonCoord=220;refseq.end=68528054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_001085457;refseq.name2=CBWD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L220I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=68528054;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr9 68528088 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=655;Dels=0.00;HRun=1;HaplotypeScore=14.96;MQ=77.79;MQ0=41;OQ=9083.46;QD=13.87;RankSumP=0.119575;SB=-2802.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.624C>T;refseq.codonCoord=208;refseq.end=68528088;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=730;refseq.name=NM_001085457;refseq.name2=CBWD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V208V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-39;refseq.start=68528088;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr9 68537370 . G A 50.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=15;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=55.04;MQ0=33;OQ=888.38;QD=12.17;RankSumP=1.00000;SB=-231.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.462C>T;refseq.codonCoord=154;refseq.end=68537370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_001085457;refseq.name2=CBWD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A154A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-29;refseq.start=68537370;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr9 68537402 . G C 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=45.86;MQ0=38;OQ=934.23;QD=13.35;RankSumP=0.507913;SB=-10.00;SecondBestBaseQ=33;refseq.chr=chr9;refseq.codingCoordStr=c.431-1;refseq.end=68537402;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_001085457;refseq.name2=CBWD6;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=68537402;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr9 68546636 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1559;Dels=0.00;HRun=0;HaplotypeScore=211.38;MQ=41.43;MQ0=1235;OQ=8238.20;QD=5.28;RankSumP=0.0332207;SB=-41.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.315C>T;refseq.codonCoord=105;refseq.end=68546636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_001085457;refseq.name2=CBWD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N105N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-24;refseq.start=68546636;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap-filterIngatk GT 1/0 chr9 68675437 . C T 11.07 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1168;Dels=0.00;HRun=2;HaplotypeScore=35.83;MQ=0.76;MQ0=1167;QD=0.01;SB=-10.00;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.216C>T;refseq.codonCoord=72;refseq.end=68675437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H72H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=13;refseq.start=68675437;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1166,2:1:-4.36,-0.30,-0.00:1.76 chr9 68675779 rs4055461 C T 18.46 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=1158;Dels=0.00;HRun=0;HaplotypeScore=35.26;MQ=8.01;MQ0=1145;QD=0.02;SB=-10.00;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.396C>T;refseq.codonCoord=132;refseq.end=68675779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y132Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=78;refseq.start=68675779;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1143,12:11:-8.44,-3.31,-33.07:51.23 chr9 68680985 . G A -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=2058;Dels=0.00;HRun=0;HaplotypeScore=234.21;MQ=0.81;MQ0=2056;OQ=53.02;QD=0.03;SB=-10.00;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.673G>A;refseq.codonCoord=225;refseq.end=68680985;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=785;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V225I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-65;refseq.start=68680985;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1905,152:2:-8.71,-0.60,-0.00:6.02 chr9 68680991 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.679G>A;refseq.codonCoord=227;refseq.end=68680991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A227T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-59;refseq.start=68680991;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr9 68680994 . C A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.682C>A;refseq.codonCoord=228;refseq.end=68680994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q228K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-56;refseq.start=68680994;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr9 68681026 . T C 36.83 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=1891;Dels=0.00;HRun=0;HaplotypeScore=28.13;MQ=1.09;MQ0=1888;QD=0.02;SB=-10.00;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.714T>C;refseq.codonCoord=238;refseq.end=68681026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y238Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-24;refseq.start=68681026;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1832,58:2:-7.09,-0.60,-0.00:6.02 chr9 68705995 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0323959;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1122G>A;refseq.codonCoord=374;refseq.end=68705995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1234;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R374R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-31;refseq.start=68705995;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr9 68705997 . A G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.116184;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1124A>G;refseq.codonCoord=375;refseq.end=68705997;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1236;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H375R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-29;refseq.start=68705997;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 0/1 chr9 68710202 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=851;Dels=0.00;HRun=0;HaplotypeScore=27.69;MQ=54.38;MQ0=514;OQ=2211.98;QD=2.60;RankSumP=0.236737;SB=-333.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1272G>A;refseq.codonCoord=424;refseq.end=68710202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1384;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T424T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-45;refseq.start=68710202;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 68713378 . C T 13 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=894;Dels=0.00;HRun=0;HaplotypeScore=178.08;MQ=7.26;MQ0=779;OQ=319.95;QD=0.36;RankSumP=1.00000;SB=-27.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1854C>T;refseq.codonCoord=618;refseq.end=68713378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1966;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S618S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=357;refseq.start=68713378;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/1 chr9 68713412 . C G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.571429;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1888C>G;refseq.codonCoord=630;refseq.end=68713412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2000;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L630V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=391;refseq.start=68713412;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 1/0 chr9 68713461 . T G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=585;Dels=0.00;HRun=1;HaplotypeScore=15.79;MQ=14.64;MQ0=344;OQ=2212.92;QD=3.78;RankSumP=0.428571;SB=-867.42;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1937T>G;refseq.codonCoord=646;refseq.end=68713461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2049;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M646R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=440;refseq.start=68713461;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr9 68713488 rs2940831 A C 46.07 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=4.55;MQ0=477;QD=0.09;SB=-0.98;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1964A>C;refseq.codonCoord=655;refseq.end=68713488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2076;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D655A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=467;refseq.start=68713488;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:473,30:13:-11.81,-3.92,-36.68:78.90 chr9 68713541 . G A 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=17.35;MQ0=384;OQ=177.06;QD=0.42;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2017G>A;refseq.codonCoord=673;refseq.end=68713541;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2129;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A673T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=520;refseq.start=68713541;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr9 68713575 . G C 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2051G>C;refseq.codonCoord=684;refseq.end=68713575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2163;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S684T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=554;refseq.start=68713575;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/1 chr9 68713612 . A T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2088A>T;refseq.codonCoord=696;refseq.end=68713612;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_001098805;refseq.name2=ANKRD20A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q696H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=591;refseq.start=68713612;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr9 68722490 rs1930520 T G 0.02 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=29.30;MQ=11.83;MQ0=293;OQ=244.26;QD=0.81;SB=-10.00;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:228,72:7:-28.00,-2.11,-0.00:21.07 chr9 68722517 . A G 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=486;Dels=0.00;HRun=1;HaplotypeScore=22.15;MQ=16.44;MQ0=464;OQ=696.66;QD=1.43;RankSumP=1.00000;SB=-135.05;SecondBestBaseQ=0;set=filterInsoap-gatk GT 1/1 chr9 68722564 rs1924147 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=381;Dels=0.00;HRun=2;HaplotypeScore=30.47;MQ=26.72;MQ0=318;OQ=50.76;QD=0.13;SB=-24.59;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:349,32:53:-24.32,-15.96,-192.11:83.60 chr9 68729876 . C A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;set=FilteredInAll GT 1/0 chr9 68729964 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=238;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=19.17;MQ0=35;OQ=554.95;QD=2.33;SB=-213.51;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:204,34:128:-97.32,-38.54,-416.36:99 chr9 69668579 rs12353152 T G 10.17 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=500;Dels=0.00;HRun=1;HaplotypeScore=16.89;MQ=1.45;MQ0=498;QD=0.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.141A>C;refseq.codingCoordStr_2=c.141A>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=69668579;refseq.end_2=69668579;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=973;refseq.mrnaCoord_2=973;refseq.name2_1=FOXD4L2;refseq.name2_2=FOXD4L4;refseq.name_1=NM_001099279;refseq.name_2=NM_199244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R47S;refseq.proteinCoordStr_2=p.R47S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=973;refseq.spliceDist_2=973;refseq.start_1=69668579;refseq.start_2=69668579;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:490,9:1:-4.26,-0.30,-0.00:1.76 chr9 69729875 . A C 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.501020;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.14T>G;refseq.codingCoordStr_2=c.14T>G;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=69729875;refseq.end_2=69729875;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=117;refseq.mrnaCoord_2=123;refseq.name2_1=CBWD5;refseq.name2_2=CBWD3;refseq.name_1=NM_001024916;refseq.name_2=NM_201453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V5G;refseq.proteinCoordStr_2=p.V5G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=117;refseq.spliceDist_2=123;refseq.start_1=69729875;refseq.start_2=69729875;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 0/1 chr9 70049984 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.428571;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.190A>G;refseq.codonCoord=64;refseq.end=70049984;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_201453;refseq.name2=CBWD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T64A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=36;refseq.start=70049984;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr9 70053547 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.415294;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.344A>G;refseq.codonCoord=115;refseq.end=70053547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_201453;refseq.name2=CBWD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N115S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=70053547;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr9 70053597 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.348247;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.394G>T;refseq.codonCoord=132;refseq.end=70053597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_201453;refseq.name2=CBWD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D132Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-37;refseq.start=70053597;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 0/1 chr9 70108784 rs2921294 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=598;Dels=0.00;HRun=1;HaplotypeScore=78.08;MQ=5.02;MQ0=540;OQ=93.67;QD=0.16;SB=32.13;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1097G>A;refseq.codonCoord=366;refseq.end=70108784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_199135;refseq.name2=FOXD4L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R366K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1037;refseq.start=70108784;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:504,73:18:-18.07,-5.42,-53.16:99 chr9 70189215 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.398848;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.506G>A;refseq.codonCoord=169;refseq.end=70189215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R169Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-66;refseq.start=70189215;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr9 70189258 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0164980;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=70189258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=778;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E183E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-23;refseq.start=70189258;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr9 70192200 . G A 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.356094;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.573G>A;refseq.codonCoord=191;refseq.end=70192200;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V191V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=70192200;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 1/0 chr9 70192241 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.220220;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.614G>A;refseq.codonCoord=205;refseq.end=70192241;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R205Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=43;refseq.start=70192241;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr9 70192270 . G A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.465807;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.643G>A;refseq.codonCoord=215;refseq.end=70192270;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G215S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-55;refseq.start=70192270;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 1/0 chr9 70196276 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.326812;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.704G>A;refseq.codonCoord=235;refseq.end=70196276;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G235E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=70196276;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr9 70196396 . C T 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.200000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.824C>T;refseq.codonCoord=275;refseq.end=70196396;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1053;refseq.name=NM_021965;refseq.name2=PGM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T275M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-65;refseq.start=70196396;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr9 70739667 . G A 172.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.70;MQ0=0;OQ=5937.95;QD=21.83;RankSumP=0.376374;SB=-1073.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1243G>A;refseq.codonCoord=415;refseq.end=70739667;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1548;refseq.name=NM_003558;refseq.name2=PIP5K1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A415T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=42;refseq.start=70739667;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr9 70818027 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=411;Dels=0.00;HRun=1;HaplotypeScore=11.27;MQ=98.57;MQ0=0;OQ=9016.68;QD=21.94;RankSumP=0.168871;SB=-3610.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.802C>G;refseq.codonCoord=268;refseq.end=70818027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_002732;refseq.name2=PRKACG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H268D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-752;refseq.start=70818027;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr9 70840572 . A G 36.56 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=18.28;RankSumP=1.00000;SB=-42.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.54A>G;refseq.codingCoordStr_2=c.54A>G;refseq.codingCoordStr_3=c.54A>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.end_1=70840572;refseq.end_2=70840572;refseq.end_3=70840572;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=274;refseq.mrnaCoord_2=274;refseq.mrnaCoord_3=274;refseq.name2_1=FXN;refseq.name2_2=FXN;refseq.name2_3=FXN;refseq.name_1=NM_000144;refseq.name_2=NM_001161706;refseq.name_3=NM_181425;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P18P;refseq.proteinCoordStr_2=p.P18P;refseq.proteinCoordStr_3=p.P18P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-112;refseq.spliceDist_2=-112;refseq.spliceDist_3=-112;refseq.start_1=70840572;refseq.start_2=70840572;refseq.start_3=70840572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=FilteredInAll GT 1/1 chr9 71032843 . C A 198.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1389.48;QD=36.57;RankSumP=1.00000;SB=-130.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_1=c.1377C>A;refseq.codingCoordStr_2=c.1458C>A;refseq.codingCoordStr_3=c.1539C>A;refseq.codingCoordStr_4=c.1446C>A;refseq.codingCoordStr_5=c.1446C>A;refseq.codingCoordStr_6=c.1446C>A;refseq.codonCoord_1=459;refseq.codonCoord_2=486;refseq.codonCoord_3=513;refseq.codonCoord_4=482;refseq.codonCoord_5=482;refseq.codonCoord_6=482;refseq.end_1=71032843;refseq.end_2=71032843;refseq.end_3=71032843;refseq.end_4=71032843;refseq.end_5=71032843;refseq.end_6=71032843;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1565;refseq.mrnaCoord_2=1609;refseq.mrnaCoord_3=1539;refseq.mrnaCoord_4=1764;refseq.mrnaCoord_5=1764;refseq.mrnaCoord_6=1708;refseq.name2_1=TJP2;refseq.name2_2=TJP2;refseq.name2_3=TJP2;refseq.name2_4=TJP2;refseq.name2_5=TJP2;refseq.name2_6=TJP2;refseq.name_1=NM_001170414;refseq.name_2=NM_001170415;refseq.name_3=NM_001170416;refseq.name_4=NM_001170630;refseq.name_5=NM_004817;refseq.name_6=NM_201629;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.D459E;refseq.proteinCoordStr_2=p.D486E;refseq.proteinCoordStr_3=p.D513E;refseq.proteinCoordStr_4=p.D482E;refseq.proteinCoordStr_5=p.D482E;refseq.proteinCoordStr_6=p.D482E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceDist_5=-8;refseq.spliceDist_6=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.spliceInfo_5=splice-donor_-8;refseq.spliceInfo_6=splice-donor_-8;refseq.start_1=71032843;refseq.start_2=71032843;refseq.start_3=71032843;refseq.start_4=71032843;refseq.start_5=71032843;refseq.start_6=71032843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantAA_6=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;refseq.variantCodon_6=GAA;set=Intersection GT 1/1 chr9 71052795 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=635;Dels=0.00;HRun=0;HaplotypeScore=123.06;MQ=98.17;MQ0=0;OQ=9055.44;QD=14.26;RankSumP=0.0153070;SB=-2727.75;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_1=c.2646C>T;refseq.codingCoordStr_2=c.2727C>T;refseq.codingCoordStr_3=c.2808C>T;refseq.codingCoordStr_4=c.2715C>T;refseq.codingCoordStr_5=c.2715C>T;refseq.codingCoordStr_6=c.2715C>T;refseq.codonCoord_1=882;refseq.codonCoord_2=909;refseq.codonCoord_3=936;refseq.codonCoord_4=905;refseq.codonCoord_5=905;refseq.codonCoord_6=905;refseq.end_1=71052795;refseq.end_2=71052795;refseq.end_3=71052795;refseq.end_4=71052795;refseq.end_5=71052795;refseq.end_6=71052795;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2834;refseq.mrnaCoord_2=2878;refseq.mrnaCoord_3=2808;refseq.mrnaCoord_4=3033;refseq.mrnaCoord_5=3033;refseq.mrnaCoord_6=2977;refseq.name2_1=TJP2;refseq.name2_2=TJP2;refseq.name2_3=TJP2;refseq.name2_4=TJP2;refseq.name2_5=TJP2;refseq.name2_6=TJP2;refseq.name_1=NM_001170414;refseq.name_2=NM_001170415;refseq.name_3=NM_001170416;refseq.name_4=NM_001170630;refseq.name_5=NM_004817;refseq.name_6=NM_201629;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T882T;refseq.proteinCoordStr_2=p.T909T;refseq.proteinCoordStr_3=p.T936T;refseq.proteinCoordStr_4=p.T905T;refseq.proteinCoordStr_5=p.T905T;refseq.proteinCoordStr_6=p.T905T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.spliceDist_5=48;refseq.spliceDist_6=48;refseq.start_1=71052795;refseq.start_2=71052795;refseq.start_3=71052795;refseq.start_4=71052795;refseq.start_5=71052795;refseq.start_6=71052795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;refseq.variantCodon_5=ACT;refseq.variantCodon_6=ACT;set=soap-filterIngatk GT 0/1 chr9 71052807 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=64.97;MQ=98.25;MQ0=0;OQ=6668.07;QD=12.04;RankSumP=0.196787;SB=-2021.48;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_1=c.2658G>A;refseq.codingCoordStr_2=c.2739G>A;refseq.codingCoordStr_3=c.2820G>A;refseq.codingCoordStr_4=c.2727G>A;refseq.codingCoordStr_5=c.2727G>A;refseq.codingCoordStr_6=c.2727G>A;refseq.codonCoord_1=886;refseq.codonCoord_2=913;refseq.codonCoord_3=940;refseq.codonCoord_4=909;refseq.codonCoord_5=909;refseq.codonCoord_6=909;refseq.end_1=71052807;refseq.end_2=71052807;refseq.end_3=71052807;refseq.end_4=71052807;refseq.end_5=71052807;refseq.end_6=71052807;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2846;refseq.mrnaCoord_2=2890;refseq.mrnaCoord_3=2820;refseq.mrnaCoord_4=3045;refseq.mrnaCoord_5=3045;refseq.mrnaCoord_6=2989;refseq.name2_1=TJP2;refseq.name2_2=TJP2;refseq.name2_3=TJP2;refseq.name2_4=TJP2;refseq.name2_5=TJP2;refseq.name2_6=TJP2;refseq.name_1=NM_001170414;refseq.name_2=NM_001170415;refseq.name_3=NM_001170416;refseq.name_4=NM_001170630;refseq.name_5=NM_004817;refseq.name_6=NM_201629;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A886A;refseq.proteinCoordStr_2=p.A913A;refseq.proteinCoordStr_3=p.A940A;refseq.proteinCoordStr_4=p.A909A;refseq.proteinCoordStr_5=p.A909A;refseq.proteinCoordStr_6=p.A909A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.spliceDist_5=60;refseq.spliceDist_6=60;refseq.start_1=71052807;refseq.start_2=71052807;refseq.start_3=71052807;refseq.start_4=71052807;refseq.start_5=71052807;refseq.start_6=71052807;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;set=Intersection GT 1/0 chr9 71931132 . G A 114.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=98.91;MQ0=0;OQ=2073.17;QD=12.20;RankSumP=0.168217;SB=-885.42;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.881G>A;refseq.codonCoord=294;refseq.end=71931132;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_153267;refseq.name2=MAMDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S294N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-20;refseq.start=71931132;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr9 72087254 . G A 449.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=98.76;MQ0=0;OQ=5083.00;QD=42.01;RankSumP=1.00000;SB=-2348.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.916G>A;refseq.codonCoord=306;refseq.end=72087254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_015110;refseq.name2=SMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V306I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-66;refseq.start=72087254;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr9 72087260 . T C 287.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.76;MQ0=0;OQ=1984.92;QD=16.01;RankSumP=0.426457;SB=-942.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.922T>C;refseq.codonCoord=308;refseq.end=72087260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_015110;refseq.name2=SMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C308R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-60;refseq.start=72087260;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr9 72123594 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=76.39;MQ0=29;OQ=2856.70;QD=12.37;RankSumP=0.316714;SB=-1234.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2045A>G;refseq.codonCoord=682;refseq.end=72123594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2162;refseq.name=NM_015110;refseq.name2=SMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H682R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=65;refseq.start=72123594;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr9 72217650 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.450T>G;refseq.codonCoord=150;refseq.end=72217650;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1744;refseq.name=NM_001206;refseq.name2=KLF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C150W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-56;refseq.start=72217650;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr9 72340693 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=10.17;MQ=98.40;MQ0=0;OQ=1638.36;QD=12.80;RankSumP=0.114491;SB=-842.65;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.5120A>C;refseq.codingCoordStr_2=c.4661A>C;refseq.codingCoordStr_3=c.4697A>C;refseq.codingCoordStr_4=c.4631A>C;refseq.codingCoordStr_5=c.4667A>C;refseq.codingCoordStr_6=c.4736A>C;refseq.codingCoordStr_7=c.4706A>C;refseq.codonCoord_1=1707;refseq.codonCoord_2=1554;refseq.codonCoord_3=1566;refseq.codonCoord_4=1544;refseq.codonCoord_5=1556;refseq.codonCoord_6=1579;refseq.codonCoord_7=1569;refseq.end_1=72340693;refseq.end_2=72340693;refseq.end_3=72340693;refseq.end_4=72340693;refseq.end_5=72340693;refseq.end_6=72340693;refseq.end_7=72340693;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=5364;refseq.mrnaCoord_2=5016;refseq.mrnaCoord_3=5052;refseq.mrnaCoord_4=4986;refseq.mrnaCoord_5=5022;refseq.mrnaCoord_6=5091;refseq.mrnaCoord_7=5061;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.N1707T;refseq.proteinCoordStr_2=p.N1554T;refseq.proteinCoordStr_3=p.N1566T;refseq.proteinCoordStr_4=p.N1544T;refseq.proteinCoordStr_5=p.N1556T;refseq.proteinCoordStr_6=p.N1579T;refseq.proteinCoordStr_7=p.N1569T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.referenceCodon_6=AAC;refseq.referenceCodon_7=AAC;refseq.spliceDist_1=-908;refseq.spliceDist_2=-908;refseq.spliceDist_3=-908;refseq.spliceDist_4=-908;refseq.spliceDist_5=-908;refseq.spliceDist_6=-908;refseq.spliceDist_7=-908;refseq.start_1=72340693;refseq.start_2=72340693;refseq.start_3=72340693;refseq.start_4=72340693;refseq.start_5=72340693;refseq.start_6=72340693;refseq.start_7=72340693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=Intersection GT 1/0 chr9 72340738 . C T 127.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=6.18;MQ=98.62;MQ0=0;OQ=2086.63;QD=16.05;RankSumP=0.0474829;SB=-989.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.5075G>A;refseq.codingCoordStr_2=c.4616G>A;refseq.codingCoordStr_3=c.4652G>A;refseq.codingCoordStr_4=c.4586G>A;refseq.codingCoordStr_5=c.4622G>A;refseq.codingCoordStr_6=c.4691G>A;refseq.codingCoordStr_7=c.4661G>A;refseq.codonCoord_1=1692;refseq.codonCoord_2=1539;refseq.codonCoord_3=1551;refseq.codonCoord_4=1529;refseq.codonCoord_5=1541;refseq.codonCoord_6=1564;refseq.codonCoord_7=1554;refseq.end_1=72340738;refseq.end_2=72340738;refseq.end_3=72340738;refseq.end_4=72340738;refseq.end_5=72340738;refseq.end_6=72340738;refseq.end_7=72340738;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=5319;refseq.mrnaCoord_2=4971;refseq.mrnaCoord_3=5007;refseq.mrnaCoord_4=4941;refseq.mrnaCoord_5=4977;refseq.mrnaCoord_6=5046;refseq.mrnaCoord_7=5016;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.R1692K;refseq.proteinCoordStr_2=p.R1539K;refseq.proteinCoordStr_3=p.R1551K;refseq.proteinCoordStr_4=p.R1529K;refseq.proteinCoordStr_5=p.R1541K;refseq.proteinCoordStr_6=p.R1564K;refseq.proteinCoordStr_7=p.R1554K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.referenceCodon_5=AGA;refseq.referenceCodon_6=AGA;refseq.referenceCodon_7=AGA;refseq.spliceDist_1=-953;refseq.spliceDist_2=-953;refseq.spliceDist_3=-953;refseq.spliceDist_4=-953;refseq.spliceDist_5=-953;refseq.spliceDist_6=-953;refseq.spliceDist_7=-953;refseq.start_1=72340738;refseq.start_2=72340738;refseq.start_3=72340738;refseq.start_4=72340738;refseq.start_5=72340738;refseq.start_6=72340738;refseq.start_7=72340738;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantAA_7=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;refseq.variantCodon_7=AAA;set=Intersection GT 0/1 chr9 72340804 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=166;Dels=0.00;HRun=3;HaplotypeScore=12.92;MQ=98.55;MQ0=0;OQ=2838.08;QD=17.10;RankSumP=0.433289;SB=-1361.84;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.5009G>A;refseq.codingCoordStr_2=c.4550G>A;refseq.codingCoordStr_3=c.4586G>A;refseq.codingCoordStr_4=c.4520G>A;refseq.codingCoordStr_5=c.4556G>A;refseq.codingCoordStr_6=c.4625G>A;refseq.codingCoordStr_7=c.4595G>A;refseq.codonCoord_1=1670;refseq.codonCoord_2=1517;refseq.codonCoord_3=1529;refseq.codonCoord_4=1507;refseq.codonCoord_5=1519;refseq.codonCoord_6=1542;refseq.codonCoord_7=1532;refseq.end_1=72340804;refseq.end_2=72340804;refseq.end_3=72340804;refseq.end_4=72340804;refseq.end_5=72340804;refseq.end_6=72340804;refseq.end_7=72340804;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=5253;refseq.mrnaCoord_2=4905;refseq.mrnaCoord_3=4941;refseq.mrnaCoord_4=4875;refseq.mrnaCoord_5=4911;refseq.mrnaCoord_6=4980;refseq.mrnaCoord_7=4950;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.R1670Q;refseq.proteinCoordStr_2=p.R1517Q;refseq.proteinCoordStr_3=p.R1529Q;refseq.proteinCoordStr_4=p.R1507Q;refseq.proteinCoordStr_5=p.R1519Q;refseq.proteinCoordStr_6=p.R1542Q;refseq.proteinCoordStr_7=p.R1532Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.referenceCodon_5=CGA;refseq.referenceCodon_6=CGA;refseq.referenceCodon_7=CGA;refseq.spliceDist_1=-1019;refseq.spliceDist_2=-1019;refseq.spliceDist_3=-1019;refseq.spliceDist_4=-1019;refseq.spliceDist_5=-1019;refseq.spliceDist_6=-1019;refseq.spliceDist_7=-1019;refseq.start_1=72340804;refseq.start_2=72340804;refseq.start_3=72340804;refseq.start_4=72340804;refseq.start_5=72340804;refseq.start_6=72340804;refseq.start_7=72340804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;refseq.variantCodon_6=CAA;refseq.variantCodon_7=CAA;set=Intersection GT 0/1 chr9 72341535 . C T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=395;Dels=0.00;HRun=0;HaplotypeScore=20.19;MQ=98.42;MQ0=0;OQ=12497.53;QD=31.64;RankSumP=1.00000;SB=-3975.58;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.4278G>A;refseq.codingCoordStr_2=c.3819G>A;refseq.codingCoordStr_3=c.3855G>A;refseq.codingCoordStr_4=c.3789G>A;refseq.codingCoordStr_5=c.3825G>A;refseq.codingCoordStr_6=c.3894G>A;refseq.codingCoordStr_7=c.3864G>A;refseq.codonCoord_1=1426;refseq.codonCoord_2=1273;refseq.codonCoord_3=1285;refseq.codonCoord_4=1263;refseq.codonCoord_5=1275;refseq.codonCoord_6=1298;refseq.codonCoord_7=1288;refseq.end_1=72341535;refseq.end_2=72341535;refseq.end_3=72341535;refseq.end_4=72341535;refseq.end_5=72341535;refseq.end_6=72341535;refseq.end_7=72341535;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=4522;refseq.mrnaCoord_2=4174;refseq.mrnaCoord_3=4210;refseq.mrnaCoord_4=4144;refseq.mrnaCoord_5=4180;refseq.mrnaCoord_6=4249;refseq.mrnaCoord_7=4219;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L1426L;refseq.proteinCoordStr_2=p.L1273L;refseq.proteinCoordStr_3=p.L1285L;refseq.proteinCoordStr_4=p.L1263L;refseq.proteinCoordStr_5=p.L1275L;refseq.proteinCoordStr_6=p.L1298L;refseq.proteinCoordStr_7=p.L1288L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.referenceCodon_7=CTG;refseq.spliceDist_1=607;refseq.spliceDist_2=607;refseq.spliceDist_3=607;refseq.spliceDist_4=607;refseq.spliceDist_5=607;refseq.spliceDist_6=607;refseq.spliceDist_7=607;refseq.start_1=72341535;refseq.start_2=72341535;refseq.start_3=72341535;refseq.start_4=72341535;refseq.start_5=72341535;refseq.start_6=72341535;refseq.start_7=72341535;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;refseq.variantCodon_5=CTA;refseq.variantCodon_6=CTA;refseq.variantCodon_7=CTA;set=Intersection GT 1/1 chr9 72341790 . C T 335.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=98.57;MQ0=0;OQ=4238.67;QD=20.38;RankSumP=0.488553;SB=-1355.37;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.4023G>A;refseq.codingCoordStr_2=c.3564G>A;refseq.codingCoordStr_3=c.3600G>A;refseq.codingCoordStr_4=c.3534G>A;refseq.codingCoordStr_5=c.3570G>A;refseq.codingCoordStr_6=c.3639G>A;refseq.codingCoordStr_7=c.3609G>A;refseq.codonCoord_1=1341;refseq.codonCoord_2=1188;refseq.codonCoord_3=1200;refseq.codonCoord_4=1178;refseq.codonCoord_5=1190;refseq.codonCoord_6=1213;refseq.codonCoord_7=1203;refseq.end_1=72341790;refseq.end_2=72341790;refseq.end_3=72341790;refseq.end_4=72341790;refseq.end_5=72341790;refseq.end_6=72341790;refseq.end_7=72341790;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=4267;refseq.mrnaCoord_2=3919;refseq.mrnaCoord_3=3955;refseq.mrnaCoord_4=3889;refseq.mrnaCoord_5=3925;refseq.mrnaCoord_6=3994;refseq.mrnaCoord_7=3964;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.S1341S;refseq.proteinCoordStr_2=p.S1188S;refseq.proteinCoordStr_3=p.S1200S;refseq.proteinCoordStr_4=p.S1178S;refseq.proteinCoordStr_5=p.S1190S;refseq.proteinCoordStr_6=p.S1213S;refseq.proteinCoordStr_7=p.S1203S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.referenceCodon_7=TCG;refseq.spliceDist_1=352;refseq.spliceDist_2=352;refseq.spliceDist_3=352;refseq.spliceDist_4=352;refseq.spliceDist_5=352;refseq.spliceDist_6=352;refseq.spliceDist_7=352;refseq.start_1=72341790;refseq.start_2=72341790;refseq.start_3=72341790;refseq.start_4=72341790;refseq.start_5=72341790;refseq.start_6=72341790;refseq.start_7=72341790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;refseq.variantCodon_5=TCA;refseq.variantCodon_6=TCA;refseq.variantCodon_7=TCA;set=Intersection GT 0/1 chr9 72403355 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.2812C>G;refseq.codingCoordStr_2=c.2353C>G;refseq.codingCoordStr_3=c.2389C>G;refseq.codingCoordStr_4=c.2323C>G;refseq.codingCoordStr_5=c.2359C>G;refseq.codingCoordStr_6=c.2428C>G;refseq.codingCoordStr_7=c.2398C>G;refseq.codonCoord_1=938;refseq.codonCoord_2=785;refseq.codonCoord_3=797;refseq.codonCoord_4=775;refseq.codonCoord_5=787;refseq.codonCoord_6=810;refseq.codonCoord_7=800;refseq.end_1=72403355;refseq.end_2=72403355;refseq.end_3=72403355;refseq.end_4=72403355;refseq.end_5=72403355;refseq.end_6=72403355;refseq.end_7=72403355;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=3056;refseq.mrnaCoord_2=2708;refseq.mrnaCoord_3=2744;refseq.mrnaCoord_4=2678;refseq.mrnaCoord_5=2714;refseq.mrnaCoord_6=2783;refseq.mrnaCoord_7=2753;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name_1=NM_001007471;refseq.name_2=NM_020952;refseq.name_3=NM_024971;refseq.name_4=NM_206944;refseq.name_5=NM_206945;refseq.name_6=NM_206946;refseq.name_7=NM_206947;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.Q938E;refseq.proteinCoordStr_2=p.Q785E;refseq.proteinCoordStr_3=p.Q797E;refseq.proteinCoordStr_4=p.Q775E;refseq.proteinCoordStr_5=p.Q787E;refseq.proteinCoordStr_6=p.Q810E;refseq.proteinCoordStr_7=p.Q800E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.referenceCodon_7=CAG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.spliceDist_5=52;refseq.spliceDist_6=52;refseq.spliceDist_7=52;refseq.start_1=72403355;refseq.start_2=72403355;refseq.start_3=72403355;refseq.start_4=72403355;refseq.start_5=72403355;refseq.start_6=72403355;refseq.start_7=72403355;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantAA_6=Glu;refseq.variantAA_7=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;refseq.variantCodon_5=GAG;refseq.variantCodon_6=GAG;refseq.variantCodon_7=GAG;set=FilteredInAll GT 0/1 chr9 72651157 . T A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=746;Dels=0.00;HRun=0;HaplotypeScore=17.83;MQ=98.84;MQ0=0;OQ=30021.21;QD=40.24;RankSumP=1.00000;SB=-13819.55;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.chr_8=chr9;refseq.chr_9=chr9;refseq.codingCoordStr_1=c.174A>T;refseq.codingCoordStr_2=c.633A>T;refseq.codingCoordStr_3=c.174A>T;refseq.codingCoordStr_4=c.174A>T;refseq.codingCoordStr_5=c.174A>T;refseq.codingCoordStr_6=c.174A>T;refseq.codingCoordStr_7=c.174A>T;refseq.codingCoordStr_8=c.174A>T;refseq.codingCoordStr_9=c.174A>T;refseq.codonCoord_1=58;refseq.codonCoord_2=211;refseq.codonCoord_3=58;refseq.codonCoord_4=58;refseq.codonCoord_5=58;refseq.codonCoord_6=58;refseq.codonCoord_7=58;refseq.codonCoord_8=58;refseq.codonCoord_9=58;refseq.end_1=72651157;refseq.end_2=72651157;refseq.end_3=72651157;refseq.end_4=72651157;refseq.end_5=72651157;refseq.end_6=72651157;refseq.end_7=72651157;refseq.end_8=72651157;refseq.end_9=72651157;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=529;refseq.mrnaCoord_2=877;refseq.mrnaCoord_3=529;refseq.mrnaCoord_4=529;refseq.mrnaCoord_5=529;refseq.mrnaCoord_6=529;refseq.mrnaCoord_7=529;refseq.mrnaCoord_8=529;refseq.mrnaCoord_9=529;refseq.name2_1=TRPM3;refseq.name2_2=TRPM3;refseq.name2_3=TRPM3;refseq.name2_4=TRPM3;refseq.name2_5=TRPM3;refseq.name2_6=TRPM3;refseq.name2_7=TRPM3;refseq.name2_8=TRPM3;refseq.name2_9=TRPM3;refseq.name_1=NM_001007470;refseq.name_2=NM_001007471;refseq.name_3=NM_020952;refseq.name_4=NM_024971;refseq.name_5=NM_206944;refseq.name_6=NM_206945;refseq.name_7=NM_206946;refseq.name_8=NM_206947;refseq.name_9=NM_206948;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.A58A;refseq.proteinCoordStr_2=p.A211A;refseq.proteinCoordStr_3=p.A58A;refseq.proteinCoordStr_4=p.A58A;refseq.proteinCoordStr_5=p.A58A;refseq.proteinCoordStr_6=p.A58A;refseq.proteinCoordStr_7=p.A58A;refseq.proteinCoordStr_8=p.A58A;refseq.proteinCoordStr_9=p.A58A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.referenceCodon_7=GCA;refseq.referenceCodon_8=GCA;refseq.referenceCodon_9=GCA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.spliceDist_4=-44;refseq.spliceDist_5=-44;refseq.spliceDist_6=-44;refseq.spliceDist_7=-44;refseq.spliceDist_8=-44;refseq.spliceDist_9=-44;refseq.start_1=72651157;refseq.start_2=72651157;refseq.start_3=72651157;refseq.start_4=72651157;refseq.start_5=72651157;refseq.start_6=72651157;refseq.start_7=72651157;refseq.start_8=72651157;refseq.start_9=72651157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;refseq.variantCodon_7=GCT;refseq.variantCodon_8=GCT;refseq.variantCodon_9=GCT;set=Intersection GT 1/1 chr9 73549916 . C T 248.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.90;MQ0=0;OQ=2983.70;QD=15.22;RankSumP=0.218659;SB=-1029.97;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.872G>A;refseq.codingCoordStr_2=c.872G>A;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.end_1=73549916;refseq.end_2=73549916;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1412;refseq.mrnaCoord_2=1412;refseq.name2_1=TMEM2;refseq.name2_2=TMEM2;refseq.name_1=NM_001135820;refseq.name_2=NM_013390;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R291H;refseq.proteinCoordStr_2=p.R291H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-163;refseq.spliceDist_2=-163;refseq.start_1=73549916;refseq.start_2=73549916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr9 73550029 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=99.00;MQ0=0;OQ=4055.06;QD=20.17;RankSumP=0.254148;SB=-715.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.759C>G;refseq.codingCoordStr_2=c.759C>G;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.end_1=73550029;refseq.end_2=73550029;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1299;refseq.mrnaCoord_2=1299;refseq.name2_1=TMEM2;refseq.name2_2=TMEM2;refseq.name_1=NM_001135820;refseq.name_2=NM_013390;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P253P;refseq.proteinCoordStr_2=p.P253P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-276;refseq.spliceDist_2=-276;refseq.start_1=73550029;refseq.start_2=73550029;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr9 74007381 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.287A>C;refseq.codonCoord=96;refseq.end=74007381;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_004293;refseq.name2=GDA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D96A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=75;refseq.start=74007381;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr9 74045898 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.999T>G;refseq.codonCoord=333;refseq.end=74045898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_004293;refseq.name2=GDA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G333G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=11;refseq.start=74045898;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 74164956 . T C 92.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=2;HaplotypeScore=7.14;MQ=89.08;MQ0=11;OQ=8118.88;QD=38.12;RankSumP=1.00000;SB=-1510.57;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.153A>G;refseq.codingCoordStr_2=c.153A>G;refseq.codingCoordStr_3=c.153A>G;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.codonCoord_3=51;refseq.end_1=74164956;refseq.end_2=74164956;refseq.end_3=74164956;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=851;refseq.mrnaCoord_2=714;refseq.mrnaCoord_3=711;refseq.name2_1=ZFAND5;refseq.name2_2=ZFAND5;refseq.name2_3=ZFAND5;refseq.name_1=NM_001102420;refseq.name_2=NM_001102421;refseq.name_3=NM_006007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G51G;refseq.proteinCoordStr_2=p.G51G;refseq.proteinCoordStr_3=p.G51G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=74164956;refseq.start_2=74164956;refseq.start_3=74164956;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/1 chr9 74735702 . G A 283.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.79;MQ0=0;OQ=4486.71;QD=22.32;RankSumP=0.108736;SB=-1438.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.225C>T;refseq.codonCoord=75;refseq.end=74735702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_000689;refseq.name2=ALDH1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S75S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=54;refseq.start=74735702;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr9 76593394 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.2608G>T;refseq.codingCoordStr_2=c.2608G>T;refseq.codingCoordStr_3=c.2623G>T;refseq.codonCoord_1=870;refseq.codonCoord_2=870;refseq.codonCoord_3=875;refseq.end_1=76593394;refseq.end_2=76593394;refseq.end_3=76593394;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2680;refseq.mrnaCoord_2=2707;refseq.mrnaCoord_3=2861;refseq.name2_1=TRPM6;refseq.name2_2=TRPM6;refseq.name2_3=TRPM6;refseq.name_1=NM_001177310;refseq.name_2=NM_001177311;refseq.name_3=NM_017662;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V870F;refseq.proteinCoordStr_2=p.V870F;refseq.proteinCoordStr_3=p.V875F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=76593394;refseq.start_2=76593394;refseq.start_3=76593394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr9 76605104 . A C 271.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=99.00;MQ0=0;OQ=16033.78;QD=41.11;RankSumP=1.00000;SB=-7027.01;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.2109T>G;refseq.codingCoordStr_2=c.2109T>G;refseq.codingCoordStr_3=c.2124T>G;refseq.codonCoord_1=703;refseq.codonCoord_2=703;refseq.codonCoord_3=708;refseq.end_1=76605104;refseq.end_2=76605104;refseq.end_3=76605104;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2181;refseq.mrnaCoord_2=2208;refseq.mrnaCoord_3=2362;refseq.name2_1=TRPM6;refseq.name2_2=TRPM6;refseq.name2_3=TRPM6;refseq.name_1=NM_001177310;refseq.name_2=NM_001177311;refseq.name_3=NM_017662;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L703L;refseq.proteinCoordStr_2=p.L703L;refseq.proteinCoordStr_3=p.L708L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.spliceDist_3=115;refseq.start_1=76605104;refseq.start_2=76605104;refseq.start_3=76605104;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr9 76606792 . C T 221.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.22;MQ0=0;OQ=2918.57;QD=18.36;RankSumP=0.215952;SB=-1190.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1836G>A;refseq.codingCoordStr_2=c.1836G>A;refseq.codingCoordStr_3=c.1851G>A;refseq.codonCoord_1=612;refseq.codonCoord_2=612;refseq.codonCoord_3=617;refseq.end_1=76606792;refseq.end_2=76606792;refseq.end_3=76606792;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1908;refseq.mrnaCoord_2=1935;refseq.mrnaCoord_3=2089;refseq.name2_1=TRPM6;refseq.name2_2=TRPM6;refseq.name2_3=TRPM6;refseq.name_1=NM_001177310;refseq.name_2=NM_001177311;refseq.name_3=NM_017662;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L612L;refseq.proteinCoordStr_2=p.L612L;refseq.proteinCoordStr_3=p.L617L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=120;refseq.spliceDist_2=120;refseq.spliceDist_3=120;refseq.start_1=76606792;refseq.start_2=76606792;refseq.start_3=76606792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 0/1 chr9 76626461 . G A 184.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.90;MQ0=0;OQ=10097.59;QD=36.45;RankSumP=1.00000;SB=-4959.06;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.939C>T;refseq.codingCoordStr_2=c.939C>T;refseq.codingCoordStr_3=c.954C>T;refseq.codonCoord_1=313;refseq.codonCoord_2=313;refseq.codonCoord_3=318;refseq.end_1=76626461;refseq.end_2=76626461;refseq.end_3=76626461;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=1038;refseq.mrnaCoord_3=1192;refseq.name2_1=TRPM6;refseq.name2_2=TRPM6;refseq.name2_3=TRPM6;refseq.name_1=NM_001177310;refseq.name_2=NM_001177311;refseq.name_3=NM_017662;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G313G;refseq.proteinCoordStr_2=p.G313G;refseq.proteinCoordStr_3=p.G318G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=76626461;refseq.start_2=76626461;refseq.start_3=76626461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chr9 76874510 . A C 277.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=4992.00;QD=21.06;RankSumP=0.419615;SB=-1698.18;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.357T>G;refseq.codonCoord_3=119;refseq.end_1=76874620;refseq.end_2=76874510;refseq.end_3=76874510;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=859;refseq.mrnaCoord_3=602;refseq.name2_1=C9orf95;refseq.name2_2=C9orf95;refseq.name2_3=C9orf95;refseq.name_1=NM_001127603;refseq.name_2=NR_023352;refseq.name_3=NM_017881;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.T119T;refseq.referenceAA_3=Thr;refseq.referenceCodon_3=ACT;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=76873849;refseq.start_2=76874510;refseq.start_3=76874510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chr9 76936512 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.203A>G;refseq.codonCoord=68;refseq.end=76936512;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_012383;refseq.name2=OSTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E68G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=76936512;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 76942289 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.424A>C;refseq.codonCoord=142;refseq.end=76942289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_012383;refseq.name2=OSTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T142P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=16;refseq.start=76942289;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr9 76942330 . C T 228.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=4.72;MQ=98.63;MQ0=0;OQ=6382.58;QD=20.13;RankSumP=0.242944;SB=-2434.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=76942330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_012383;refseq.name2=OSTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I155I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-23;refseq.start=76942330;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr9 77695965 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=497.12;QD=13.08;RankSumP=0.0979365;SB=-110.60;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.48G>A;refseq.codonCoord=16;refseq.end=77695965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_006200;refseq.name2=PCSK5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L16L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-145;refseq.start=77695965;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr9 77696007 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.72;MQ0=0;OQ=1341.01;QD=14.58;RankSumP=0.220802;SB=-262.60;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.90T>C;refseq.codonCoord=30;refseq.end=77696007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_006200;refseq.name2=PCSK5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C30C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-103;refseq.start=77696007;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr9 77828494 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=77828494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_006200;refseq.name2=PCSK5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H144H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=21;refseq.start=77828494;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr9 77963773 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=60.63;MQ=97.97;MQ0=0;OQ=3951.47;QD=13.49;RankSumP=0.443262;SB=-349.35;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1485G>A;refseq.codonCoord=495;refseq.end=77963773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2023;refseq.name=NM_006200;refseq.name2=PCSK5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S495S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=55;refseq.start=77963773;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr9 78198926 . A C 236.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.19;MQ0=0;OQ=901.61;QD=33.39;RankSumP=1.00000;SB=-244.41;SecondBestBaseQ=0;refseq.chr=chr9;refseq.codingCoordStr=c.-19T>G;refseq.end=78198926;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=339;refseq.name=NM_018339;refseq.name2=RFK;refseq.positionType=utr5;refseq.spliceDist=-101;refseq.start=78198926;refseq.transcriptStrand=-;refseq.uorfChange=+1;set=Intersection GT 1/1 chr9 79107695 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.3740T>C;refseq.codingCoordStr_2=c.3857T>C;refseq.codingCoordStr_3=c.3857T>C;refseq.codingCoordStr_4=c.3857T>C;refseq.codonCoord_1=1247;refseq.codonCoord_2=1286;refseq.codonCoord_3=1286;refseq.codonCoord_4=1286;refseq.end_1=79107695;refseq.end_2=79107695;refseq.end_3=79107695;refseq.end_4=79107695;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4000;refseq.mrnaCoord_2=4117;refseq.mrnaCoord_3=4117;refseq.mrnaCoord_4=4117;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L1247P;refseq.proteinCoordStr_2=p.L1286P;refseq.proteinCoordStr_3=p.L1286P;refseq.proteinCoordStr_4=p.L1286P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.spliceDist_4=45;refseq.start_1=79107695;refseq.start_2=79107695;refseq.start_3=79107695;refseq.start_4=79107695;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr9 79120162 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=296;Dels=0.00;HRun=0;HaplotypeScore=9.19;MQ=98.26;MQ0=0;OQ=5454.58;QD=18.43;RankSumP=0.326522;SB=-1677.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.4469C>G;refseq.codingCoordStr_2=c.4586C>G;refseq.codingCoordStr_3=c.4586C>G;refseq.codingCoordStr_4=c.4586C>G;refseq.codonCoord_1=1490;refseq.codonCoord_2=1529;refseq.codonCoord_3=1529;refseq.codonCoord_4=1529;refseq.end_1=79120162;refseq.end_2=79120162;refseq.end_3=79120162;refseq.end_4=79120162;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4729;refseq.mrnaCoord_2=4846;refseq.mrnaCoord_3=4846;refseq.mrnaCoord_4=4846;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1490S;refseq.proteinCoordStr_2=p.T1529S;refseq.proteinCoordStr_3=p.T1529S;refseq.proteinCoordStr_4=p.T1529S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.start_1=79120162;refseq.start_2=79120162;refseq.start_3=79120162;refseq.start_4=79120162;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/0 chr9 79126235 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=5.13;MQ=98.46;MQ0=0;OQ=5931.93;QD=25.68;RankSumP=1.00000;SB=-586.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.5466A>G;refseq.codingCoordStr_2=c.5583A>G;refseq.codingCoordStr_3=c.5583A>G;refseq.codingCoordStr_4=c.5583A>G;refseq.codonCoord_1=1822;refseq.codonCoord_2=1861;refseq.codonCoord_3=1861;refseq.codonCoord_4=1861;refseq.end_1=79126235;refseq.end_2=79126235;refseq.end_3=79126235;refseq.end_4=79126235;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5726;refseq.mrnaCoord_2=5843;refseq.mrnaCoord_3=5843;refseq.mrnaCoord_4=5843;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1822T;refseq.proteinCoordStr_2=p.T1861T;refseq.proteinCoordStr_3=p.T1861T;refseq.proteinCoordStr_4=p.T1861T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=79126235;refseq.start_2=79126235;refseq.start_3=79126235;refseq.start_4=79126235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/1 chr9 79144365 . T C 374.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=3438.91;QD=40.94;RankSumP=1.00000;SB=-721.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.6375T>C;refseq.codingCoordStr_2=c.6492T>C;refseq.codingCoordStr_3=c.6492T>C;refseq.codingCoordStr_4=c.6492T>C;refseq.codonCoord_1=2125;refseq.codonCoord_2=2164;refseq.codonCoord_3=2164;refseq.codonCoord_4=2164;refseq.end_1=79144365;refseq.end_2=79144365;refseq.end_3=79144365;refseq.end_4=79144365;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=6635;refseq.mrnaCoord_2=6752;refseq.mrnaCoord_3=6752;refseq.mrnaCoord_4=6752;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D2125D;refseq.proteinCoordStr_2=p.D2164D;refseq.proteinCoordStr_3=p.D2164D;refseq.proteinCoordStr_4=p.D2164D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.spliceDist_3=114;refseq.spliceDist_4=114;refseq.start_1=79144365;refseq.start_2=79144365;refseq.start_3=79144365;refseq.start_4=79144365;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/1 chr9 79174052 . T C 324.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.93;MQ0=0;OQ=15042.41;QD=39.17;RankSumP=1.00000;SB=-4266.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.8454T>C;refseq.codingCoordStr_2=c.8571T>C;refseq.codingCoordStr_3=c.8571T>C;refseq.codingCoordStr_4=c.8571T>C;refseq.codonCoord_1=2818;refseq.codonCoord_2=2857;refseq.codonCoord_3=2857;refseq.codonCoord_4=2857;refseq.end_1=79174052;refseq.end_2=79174052;refseq.end_3=79174052;refseq.end_4=79174052;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=8714;refseq.mrnaCoord_2=8831;refseq.mrnaCoord_3=8831;refseq.mrnaCoord_4=8831;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y2818Y;refseq.proteinCoordStr_2=p.Y2857Y;refseq.proteinCoordStr_3=p.Y2857Y;refseq.proteinCoordStr_4=p.Y2857Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.start_1=79174052;refseq.start_2=79174052;refseq.start_3=79174052;refseq.start_4=79174052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 1/1 chr9 79175164 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.8640T>G;refseq.codingCoordStr_2=c.8757T>G;refseq.codingCoordStr_3=c.8757T>G;refseq.codingCoordStr_4=c.8757T>G;refseq.codonCoord_1=2880;refseq.codonCoord_2=2919;refseq.codonCoord_3=2919;refseq.codonCoord_4=2919;refseq.end_1=79175164;refseq.end_2=79175164;refseq.end_3=79175164;refseq.end_4=79175164;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=8900;refseq.mrnaCoord_2=9017;refseq.mrnaCoord_3=9017;refseq.mrnaCoord_4=9017;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G2880G;refseq.proteinCoordStr_2=p.G2919G;refseq.proteinCoordStr_3=p.G2919G;refseq.proteinCoordStr_4=p.G2919G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.spliceDist_4=14;refseq.start_1=79175164;refseq.start_2=79175164;refseq.start_3=79175164;refseq.start_4=79175164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr9 79175877 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=287;Dels=0.00;HRun=3;HaplotypeScore=10.48;MQ=98.71;MQ0=0;OQ=10106.75;QD=35.22;RankSumP=1.00000;SB=-4165.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.8952A>G;refseq.codingCoordStr_2=c.9069A>G;refseq.codingCoordStr_3=c.9069A>G;refseq.codingCoordStr_4=c.9069A>G;refseq.codonCoord_1=2984;refseq.codonCoord_2=3023;refseq.codonCoord_3=3023;refseq.codonCoord_4=3023;refseq.end_1=79175877;refseq.end_2=79175877;refseq.end_3=79175877;refseq.end_4=79175877;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=9212;refseq.mrnaCoord_2=9329;refseq.mrnaCoord_3=9329;refseq.mrnaCoord_4=9329;refseq.name2_1=VPS13A;refseq.name2_2=VPS13A;refseq.name2_3=VPS13A;refseq.name2_4=VPS13A;refseq.name_1=NM_001018037;refseq.name_2=NM_001018038;refseq.name_3=NM_015186;refseq.name_4=NM_033305;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G2984G;refseq.proteinCoordStr_2=p.G3023G;refseq.proteinCoordStr_3=p.G3023G;refseq.proteinCoordStr_4=p.G3023G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceDist_4=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.spliceInfo_4=splice-donor_-9;refseq.start_1=79175877;refseq.start_2=79175877;refseq.start_3=79175877;refseq.start_4=79175877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=Intersection GT 1/1 chr9 80109576 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=17.43;MQ=96.50;MQ0=0;OQ=7996.56;QD=32.51;RankSumP=1.00000;SB=-1045.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.297T>G;refseq.codingCoordStr_2=c.297T>G;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=80109576;refseq.end_2=80109576;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=365;refseq.name2_1=PSAT1;refseq.name2_2=PSAT1;refseq.name_1=NM_021154;refseq.name_2=NM_058179;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A99A;refseq.proteinCoordStr_2=p.A99A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.start_1=80109576;refseq.start_2=80109576;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr9 81377570 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=98.10;MQ0=0;OQ=2185.97;QD=29.15;RankSumP=1.00000;SB=-48.96;SecondBestBaseQ=2;refseq.chr=chr9;refseq.codingCoordStr=c.44+1;refseq.end=81377570;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_007005;refseq.name2=TLE4;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=81377570;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr9 83390349 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=8.86;MQ=98.50;MQ0=0;OQ=1490.73;QD=11.65;RankSumP=0.0210040;SB=-343.04;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2019A>G;refseq.codonCoord=673;refseq.end=83390349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2460;refseq.name=NM_005077;refseq.name2=TLE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A673A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=42;refseq.start=83390349;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr9 83395680 . G A 157.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=95.00;MQ0=1;OQ=1138.12;QD=13.88;RankSumP=0.329418;SB=-557.34;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1689C>T;refseq.codonCoord=563;refseq.end=83395680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2130;refseq.name=NM_005077;refseq.name2=TLE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T563T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=108;refseq.start=83395680;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr9 83425187 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.700T>C;refseq.codonCoord=234;refseq.end=83425187;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_005077;refseq.name2=TLE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S234P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-12;refseq.start=83425187;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 83456967 . T C 243.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=12.69;MQ=97.97;MQ0=0;OQ=12597.86;QD=39.49;RankSumP=1.00000;SB=-5012.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.354A>G;refseq.codonCoord=118;refseq.end=83456967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_005077;refseq.name2=TLE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E118E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=83456967;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr9 84817228 . G A 142.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1072.22;QD=14.11;RankSumP=0.127104;SB=-523.03;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.784C>T;refseq.codonCoord=262;refseq.end=84817228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_152573;refseq.name2=RASEF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R262C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=19;refseq.start=84817228;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr9 85052911 . A G 354.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=98.72;MQ0=0;OQ=5017.82;QD=17.54;RankSumP=0.107867;SB=-1808.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1536T>C;refseq.codonCoord=512;refseq.end=85052911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_174938;refseq.name2=FRMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y512Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=341;refseq.start=85052911;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr9 85342834 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.133T>C;refseq.codonCoord=45;refseq.end=85342834;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_174938;refseq.name2=FRMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-15;refseq.start=85342834;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 85448505 . A C 395.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=2444.94;QD=40.75;RankSumP=1.00000;SB=-958.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.416A>C;refseq.codonCoord=139;refseq.end=85448505;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_001001551;refseq.name2=C9orf103;refseq.positionType=CDS;refseq.proteinCoordStr=p.K139T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=342;refseq.start=85448505;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr9 85468733 . C T 352.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.88;MQ0=0;OQ=5060.47;QD=41.82;RankSumP=1.00000;SB=-2323.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1494G>A;refseq.codingCoordStr_2=c.1410G>A;refseq.codonCoord_1=498;refseq.codonCoord_2=470;refseq.end_1=85468733;refseq.end_2=85468733;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2068;refseq.mrnaCoord_2=1984;refseq.name2_1=UBQLN1;refseq.name2_2=UBQLN1;refseq.name_1=NM_013438;refseq.name_2=NM_053067;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S498S;refseq.proteinCoordStr_2=p.S470S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=85468733;refseq.start_2=85468733;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr9 85473998 . C A 316.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.75;MQ0=0;OQ=5505.88;QD=38.50;RankSumP=1.00000;SB=-2323.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1170G>T;refseq.codingCoordStr_2=c.1170G>T;refseq.codonCoord_1=390;refseq.codonCoord_2=390;refseq.end_1=85473998;refseq.end_2=85473998;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1744;refseq.mrnaCoord_2=1744;refseq.name2_1=UBQLN1;refseq.name2_2=UBQLN1;refseq.name_1=NM_013438;refseq.name_2=NM_053067;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L390L;refseq.proteinCoordStr_2=p.L390L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=85473998;refseq.start_2=85473998;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr9 85641760 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.555556;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4182G>A;refseq.codonCoord=1394;refseq.end=85641760;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4326;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1394R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-326;refseq.start=85641760;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 0/1 chr9 85646981 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.242424;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3712C>T;refseq.codonCoord=1238;refseq.end=85646981;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3856;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1238S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=85646981;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr9 85654850 . T C 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.191390;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3540A>G;refseq.codonCoord=1180;refseq.end=85654850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3684;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1180L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-17;refseq.start=85654850;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr9 85654874 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.398026;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3516A>G;refseq.codonCoord=1172;refseq.end=85654874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3660;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1172E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-41;refseq.start=85654874;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr9 85654997 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.443387;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3393G>A;refseq.codonCoord=1131;refseq.end=85654997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3537;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1131Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=36;refseq.start=85654997;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr9 85658390 . T C 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0418486;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3331A>G;refseq.codonCoord=1111;refseq.end=85658390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3475;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1111A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-27;refseq.start=85658390;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr9 85658421 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.356814;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3300G>A;refseq.codonCoord=1100;refseq.end=85658421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3444;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1100K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-58;refseq.start=85658421;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chr9 85675364 . T G 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.294388;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2647A>C;refseq.codonCoord=883;refseq.end=85675364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2791;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.I883L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=85675364;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap GT 1/0 chr9 85685096 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.334591;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2579G>A;refseq.codonCoord=860;refseq.end=85685096;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2723;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R860Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-65;refseq.start=85685096;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr9 85685155 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.167784;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2520G>A;refseq.codonCoord=840;refseq.end=85685155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2664;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.E840E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=75;refseq.start=85685155;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 0/1 chr9 85685224 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0438814;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2451G>A;refseq.codonCoord=817;refseq.end=85685224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2595;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.L817L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=85685224;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap GT 0/1 chr9 85688574 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0501251;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2419A>G;refseq.codonCoord=807;refseq.end=85688574;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2563;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.M807V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-27;refseq.start=85688574;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr9 85691824 . T C 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.294400;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2191A>G;refseq.codonCoord=731;refseq.end=85691824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2335;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.I731V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-49;refseq.start=85691824;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 1/0 chr9 85691849 . A G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0612508;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2166T>C;refseq.codonCoord=722;refseq.end=85691849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2310;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A722A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-74;refseq.start=85691849;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr9 85696031 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.361272;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1808A>G;refseq.codonCoord=603;refseq.end=85696031;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1952;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.K603R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=85696031;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chr9 85696106 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.497399;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1733G>A;refseq.codonCoord=578;refseq.end=85696106;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1877;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R578K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-77;refseq.start=85696106;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr9 85696132 . A G 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.547242;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1707T>C;refseq.codonCoord=569;refseq.end=85696132;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1851;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.D569D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-103;refseq.start=85696132;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 0/1 chr9 85713293 . T C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.288550;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.393A>G;refseq.codonCoord=131;refseq.end=85713293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V131V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=95;refseq.start=85713293;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr9 85713354 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.681623;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.332C>T;refseq.codonCoord=111;refseq.end=85713354;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.P111L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=34;refseq.start=85713354;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 1/0 chr9 85720100 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.201556;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.227A>G;refseq.codonCoord=76;refseq.end=85720100;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y76C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-72;refseq.start=85720100;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 1/0 chr9 85720325 . A T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.395830;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2T>A;refseq.codonCoord=1;refseq.end=85720325;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_017576;refseq.name2=KIF27;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=89;refseq.start=85720325;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 0/1 chr9 85807085 . A G 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=247.10;QD=12.35;RankSumP=0.750000;SB=-84.34;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1364A>G;refseq.codonCoord=455;refseq.end=85807085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1772;refseq.name=NM_024945;refseq.name2=RMI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N455S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1400;refseq.start=85807085;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr9 86090746 . G A 175.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2293.60;QD=17.78;RankSumP=0.265709;SB=-1060.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1381C>T;refseq.codonCoord=461;refseq.end=86090746;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1473;refseq.name=NM_022127;refseq.name2=SLC28A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L461L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-69;refseq.start=86090746;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr9 86110056 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=24.14;MQ=98.53;MQ0=0;OQ=8012.03;QD=19.40;RankSumP=0.260030;SB=-3061.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.267A>G;refseq.codonCoord=89;refseq.end=86110056;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_022127;refseq.name2=SLC28A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T89T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=25;refseq.start=86110056;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 86528390 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.666T>G;refseq.codingCoordStr_2=c.666T>G;refseq.codingCoordStr_3=c.666T>G;refseq.codingCoordStr_4=c.666T>G;refseq.codingCoordStr_5=c.666T>G;refseq.codonCoord_1=222;refseq.codonCoord_2=222;refseq.codonCoord_3=222;refseq.codonCoord_4=222;refseq.codonCoord_5=222;refseq.end_1=86528390;refseq.end_2=86528390;refseq.end_3=86528390;refseq.end_4=86528390;refseq.end_5=86528390;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1216;refseq.mrnaCoord_2=1604;refseq.mrnaCoord_3=1247;refseq.mrnaCoord_4=1247;refseq.mrnaCoord_5=1604;refseq.name2_1=NTRK2;refseq.name2_2=NTRK2;refseq.name2_3=NTRK2;refseq.name2_4=NTRK2;refseq.name2_5=NTRK2;refseq.name_1=NM_001007097;refseq.name_2=NM_001018064;refseq.name_3=NM_001018065;refseq.name_4=NM_001018066;refseq.name_5=NM_006180;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G222G;refseq.proteinCoordStr_2=p.G222G;refseq.proteinCoordStr_3=p.G222G;refseq.proteinCoordStr_4=p.G222G;refseq.proteinCoordStr_5=p.G222G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.spliceDist_5=-55;refseq.start_1=86528390;refseq.start_2=86528390;refseq.start_3=86528390;refseq.start_4=86528390;refseq.start_5=86528390;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr9 87825683 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2097A>G;refseq.codonCoord=699;refseq.end=87825683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2234;refseq.name=NM_024635;refseq.name2=NAA35;refseq.positionType=CDS;refseq.proteinCoordStr=p.G699G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-22;refseq.start=87825683;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 87882200 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.256T>C;refseq.codingCoordStr_2=c.256T>C;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=87882200;refseq.end_2=87882200;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=454;refseq.name2_1=GOLM1;refseq.name2_2=GOLM1;refseq.name_1=NM_016548;refseq.name_2=NM_177937;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S86P;refseq.proteinCoordStr_2=p.S86P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=87882200;refseq.start_2=87882200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr9 87883999 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=98.76;MQ0=0;OQ=1898.58;QD=12.41;RankSumP=0.414558;SB=-554.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.57C>A;refseq.codingCoordStr_2=c.57C>A;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=87883999;refseq.end_2=87883999;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=255;refseq.name2_1=GOLM1;refseq.name2_2=GOLM1;refseq.name_1=NM_016548;refseq.name_2=NM_177937;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A19A;refseq.proteinCoordStr_2=p.A19A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=87883999;refseq.start_2=87883999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr9 88149758 . C T 327.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.84;MQ0=0;OQ=5705.20;QD=17.39;RankSumP=0.257180;SB=-1199.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.951G>A;refseq.codonCoord=317;refseq.end=88149758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_024617;refseq.name2=ZCCHC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L317L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-47;refseq.start=88149758;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr9 89511843 . G A 240.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1260.62;QD=42.02;RankSumP=1.00000;SB=-583.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4037G>A;refseq.codonCoord=1346;refseq.end=89511843;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4412;refseq.name=NM_004938;refseq.name2=DAPK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1346N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=977;refseq.start=89511843;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr9 89533325 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=10.67;MQ=98.91;MQ0=0;OQ=7663.94;QD=20.01;RankSumP=0.419793;SB=-1283.64;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.402G>A;refseq.codingCoordStr_2=c.402G>A;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.end_1=89533325;refseq.end_2=89533325;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=607;refseq.name2_1=CTSL1;refseq.name2_2=CTSL1;refseq.name_1=NM_001912;refseq.name_2=NM_145918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q134Q;refseq.proteinCoordStr_2=p.Q134Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=89533325;refseq.start_2=89533325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr9 89535224 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.893T>G;refseq.codingCoordStr_2=c.893T>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.end_1=89535224;refseq.end_2=89535224;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1243;refseq.mrnaCoord_2=1098;refseq.name2_1=CTSL1;refseq.name2_2=CTSL1;refseq.name_1=NM_001912;refseq.name_2=NM_145918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V298G;refseq.proteinCoordStr_2=p.V298G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=89535224;refseq.start_2=89535224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr9 89578190 . G A 119.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=2.41;MQ=98.83;MQ0=0;OQ=2164.88;QD=15.57;RankSumP=0.175388;SB=-396.29;SecondBestBaseQ=33;refseq.chr=chr9;refseq.end=89578190;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=236;refseq.name=NR_027917;refseq.name2=CTSL3;refseq.positionType=non_coding_exon;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=89578190;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr9 89578359 . T A 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=98.99;MQ0=0;OQ=11961.99;QD=38.71;RankSumP=1.00000;SB=-4841.37;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=89578359;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=405;refseq.name=NR_027917;refseq.name2=CTSL3;refseq.positionType=non_coding_exon;refseq.spliceDist=-21;refseq.start=89578359;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr9 89585955 . G A 188.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=8.70;MQ=98.77;MQ0=0;OQ=4789.87;QD=22.81;RankSumP=0.289389;SB=-1917.83;SecondBestBaseQ=33;refseq.chr=chr9;refseq.end=89585955;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=511;refseq.name=NR_027917;refseq.name2=CTSL3;refseq.positionType=non_coding_exon;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=89585955;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr9 89690225 . A C 93.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=3793.42;QD=40.79;RankSumP=1.00000;SB=-1636.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1003A>C;refseq.codonCoord=335;refseq.end=89690225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1038;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.T335P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=578;refseq.start=89690225;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 89690361 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1139A>G;refseq.codonCoord=380;refseq.end=89690361;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1174;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.E380G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=714;refseq.start=89690361;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 89690453 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1231A>C;refseq.codonCoord=411;refseq.end=89690453;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.T411P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=806;refseq.start=89690453;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 89691268 . C A 227.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=1740.45;QD=36.26;RankSumP=1.00000;SB=-856.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2046C>A;refseq.codonCoord=682;refseq.end=89691268;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2081;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.D682E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1621;refseq.start=89691268;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr9 89692278 . T A 331.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.25;MQ0=0;OQ=1203.52;QD=36.47;RankSumP=1.00000;SB=-478.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3056T>A;refseq.codonCoord=1019;refseq.end=89692278;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3091;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1019E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1357;refseq.start=89692278;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr9 89692639 . T C 30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=12.43;MQ=97.05;MQ0=0;OQ=3596.65;QD=32.70;RankSumP=1.00000;SB=-838.01;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3417T>C;refseq.codonCoord=1139;refseq.end=89692639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3452;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1139T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-996;refseq.start=89692639;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr9 89692827 . A G 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=387.11;QD=38.71;RankSumP=1.00000;SB=-184.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3605A>G;refseq.codonCoord=1202;refseq.end=89692827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3640;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1202G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-808;refseq.start=89692827;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 89693271 . G A 318.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=98.47;MQ0=0;OQ=8632.42;QD=36.58;RankSumP=1.00000;SB=-3839.18;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4049G>A;refseq.codonCoord=1350;refseq.end=89693271;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4084;refseq.name=NM_178828;refseq.name2=C9orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1350H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-364;refseq.start=89693271;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr9 89778723 . C T 321.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=4.19;MQ=98.72;MQ0=0;OQ=5364.14;QD=37.25;RankSumP=1.00000;SB=-2636.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.123G>A;refseq.codingCoordStr_2=c.123G>A;refseq.codingCoordStr_3=c.123G>A;refseq.codingCoordStr_4=c.123G>A;refseq.codingCoordStr_5=c.162G>A;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.codonCoord_3=41;refseq.codonCoord_4=41;refseq.codonCoord_5=54;refseq.end_1=89778723;refseq.end_2=89778723;refseq.end_3=89778723;refseq.end_4=89778723;refseq.end_5=89778723;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=457;refseq.mrnaCoord_3=457;refseq.mrnaCoord_4=457;refseq.mrnaCoord_5=496;refseq.name2_1=CDK20;refseq.name2_2=CDK20;refseq.name2_3=CDK20;refseq.name2_4=CDK20;refseq.name2_5=CDK20;refseq.name_1=NM_001039803;refseq.name_2=NM_001170639;refseq.name_3=NM_001170640;refseq.name_4=NM_012119;refseq.name_5=NM_178432;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E41E;refseq.proteinCoordStr_2=p.E41E;refseq.proteinCoordStr_3=p.E41E;refseq.proteinCoordStr_4=p.E41E;refseq.proteinCoordStr_5=p.E54E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.spliceDist_5=-67;refseq.start_1=89778723;refseq.start_2=89778723;refseq.start_3=89778723;refseq.start_4=89778723;refseq.start_5=89778723;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;set=Intersection GT 1/1 chr9 90806609 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.674G>C;refseq.codonCoord=225;refseq.end=90806609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1070;refseq.name=NM_005226;refseq.name2=S1PR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S225T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=821;refseq.start=90806609;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr9 90806969 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1034G>C;refseq.codonCoord=345;refseq.end=90806969;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1430;refseq.name=NM_005226;refseq.name2=S1PR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S345T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1181;refseq.start=90806969;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr9 90842797 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=1.71;MQ=98.82;MQ0=0;OQ=2680.18;QD=20.00;RankSumP=0.467689;SB=-199.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1587C>T;refseq.codonCoord=529;refseq.end=90842797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1894;refseq.name=NM_016848;refseq.name2=SHC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G529G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-70;refseq.start=90842797;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr9 90846783 . T C 410.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=4938.55;QD=38.58;RankSumP=1.00000;SB=-840.02;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1338A>G;refseq.codonCoord=446;refseq.end=90846783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_016848;refseq.name2=SHC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P446P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-23;refseq.start=90846783;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr9 91144668 . C G 254.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.83;MQ0=0;OQ=3895.42;QD=18.64;RankSumP=0.0668445;SB=-1356.96;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1282C>G;refseq.codonCoord=428;refseq.end=91144668;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_024077;refseq.name2=SECISBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q428E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-21;refseq.start=91144668;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr9 91193499 . C T 289.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=99.00;MQ0=0;OQ=3132.55;QD=34.81;RankSumP=1.00000;SB=-1526.63;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.979G>A;refseq.codingCoordStr_2=c.979G>A;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=91193499;refseq.end_2=91193499;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1551;refseq.mrnaCoord_2=1551;refseq.name2_1=SEMA4D;refseq.name2_2=SEMA4D;refseq.name_1=NM_001142287;refseq.name_2=NM_006378;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A327T;refseq.proteinCoordStr_2=p.A327T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=91193499;refseq.start_2=91193499;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr9 92646130 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=819.30;QD=24.83;RankSumP=0.611354;SB=-418.96;SecondBestBaseQ=30;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_3=c.129G>A;refseq.codingCoordStr_4=c.129G>A;refseq.codingCoordStr_5=c.129G>A;refseq.codingCoordStr_6=c.129G>A;refseq.codonCoord_3=43;refseq.codonCoord_4=43;refseq.codonCoord_5=43;refseq.codonCoord_6=43;refseq.end_1=92646130;refseq.end_2=92646130;refseq.end_3=92646130;refseq.end_4=92646130;refseq.end_5=92646130;refseq.end_6=92646130;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=327;refseq.mrnaCoord_2=251;refseq.mrnaCoord_3=334;refseq.mrnaCoord_4=327;refseq.mrnaCoord_5=251;refseq.mrnaCoord_6=334;refseq.name2_1=SYK;refseq.name2_2=SYK;refseq.name2_3=SYK;refseq.name2_4=SYK;refseq.name2_5=SYK;refseq.name2_6=SYK;refseq.name_1=NR_024155;refseq.name_2=NR_024156;refseq.name_3=NM_001135052;refseq.name_4=NM_001174167;refseq.name_5=NM_001174168;refseq.name_6=NM_003177;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.Q43Q;refseq.proteinCoordStr_4=p.Q43Q;refseq.proteinCoordStr_5=p.Q43Q;refseq.proteinCoordStr_6=p.Q43Q;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.spliceDist_1=170;refseq.spliceDist_2=170;refseq.spliceDist_3=170;refseq.spliceDist_4=170;refseq.spliceDist_5=170;refseq.spliceDist_6=170;refseq.start_1=92646130;refseq.start_2=92646130;refseq.start_3=92646130;refseq.start_4=92646130;refseq.start_5=92646130;refseq.start_6=92646130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;refseq.variantCodon_6=CAA;set=Intersection GT 1/0 chr9 92689980 . G A 26.19 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=180;Dels=0.00;HRun=2;HaplotypeScore=14.32;MQ=97.36;MQ0=0;QD=0.15;RankSumP=0.00000;SB=212.74;SecondBestBaseQ=12;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_3=c.1641G>A;refseq.codingCoordStr_4=c.1710G>A;refseq.codingCoordStr_5=c.1641G>A;refseq.codingCoordStr_6=c.1710G>A;refseq.codonCoord_3=547;refseq.codonCoord_4=570;refseq.codonCoord_5=547;refseq.codonCoord_6=570;refseq.end_1=92689980;refseq.end_2=92689980;refseq.end_3=92689980;refseq.end_4=92689980;refseq.end_5=92689980;refseq.end_6=92689980;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1908;refseq.mrnaCoord_2=1763;refseq.mrnaCoord_3=1846;refseq.mrnaCoord_4=1908;refseq.mrnaCoord_5=1763;refseq.mrnaCoord_6=1915;refseq.name2_1=SYK;refseq.name2_2=SYK;refseq.name2_3=SYK;refseq.name2_4=SYK;refseq.name2_5=SYK;refseq.name2_6=SYK;refseq.name_1=NR_024155;refseq.name_2=NR_024156;refseq.name_3=NM_001135052;refseq.name_4=NM_001174167;refseq.name_5=NM_001174168;refseq.name_6=NM_003177;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.Q547Q;refseq.proteinCoordStr_4=p.Q570Q;refseq.proteinCoordStr_5=p.Q547Q;refseq.proteinCoordStr_6=p.Q570Q;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.spliceDist_5=-13;refseq.spliceDist_6=-13;refseq.start_1=92689980;refseq.start_2=92689980;refseq.start_3=92689980;refseq.start_4=92689980;refseq.start_5=92689980;refseq.start_6=92689980;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;refseq.variantCodon_6=CAA;set=FilteredInAll GT 1/0 chr9 93163928 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.666667;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.65T>C;refseq.codonCoord=22;refseq.end=93163928;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=100;refseq.name=NM_001698;refseq.name2=AUH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L22P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=100;refseq.start=93163928;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr9 93211569 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1269C>A;refseq.codonCoord=423;refseq.end=93211569;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_005384;refseq.name2=NFIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y423*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-422;refseq.start=93211569;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr9 93526142 . C T 123.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=9.59;MQ=97.09;MQ0=0;OQ=2498.61;QD=33.31;RankSumP=1.00000;SB=-433.08;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2455G>A;refseq.codonCoord=819;refseq.end=93526142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2654;refseq.name=NM_004560;refseq.name2=ROR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V819I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1069;refseq.start=93526142;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr9 93526468 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2129T>G;refseq.codonCoord=710;refseq.end=93526468;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2328;refseq.name=NM_004560;refseq.name2=ROR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V710G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=743;refseq.start=93526468;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 93526509 . G A 266.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=4.86;MQ=98.60;MQ0=0;OQ=2937.85;QD=16.69;RankSumP=0.0677486;SB=-1449.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2088C>T;refseq.codonCoord=696;refseq.end=93526509;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2287;refseq.name=NM_004560;refseq.name2=ROR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y696Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=702;refseq.start=93526509;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr9 93535429 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=8.05;MQ=98.49;MQ0=0;OQ=2125.11;QD=15.74;RankSumP=0.123717;SB=-756.76;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.733A>G;refseq.codonCoord=245;refseq.end=93535429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_004560;refseq.name2=ROR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=111;refseq.start=93535429;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr9 93870151 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.478G>A;refseq.codonCoord=160;refseq.end=93870151;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_006415;refseq.name2=SPTLC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E160K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=51;refseq.start=93870151;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr9 93883061 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.266C>A;refseq.codingCoordStr_2=c.266C>A;refseq.codonCoord_1=89;refseq.codonCoord_2=89;refseq.end_1=93883061;refseq.end_2=93883061;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=304;refseq.mrnaCoord_2=304;refseq.name2_1=SPTLC1;refseq.name2_2=SPTLC1;refseq.name_1=NM_006415;refseq.name_2=NM_178324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P89Q;refseq.proteinCoordStr_2=p.P89Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=93883061;refseq.start_2=93883061;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 0/1 chr9 93914627 . G T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.373976;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.96C>A;refseq.codingCoordStr_2=c.96C>A;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.end_1=93914627;refseq.end_2=93914627;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=134;refseq.mrnaCoord_2=134;refseq.name2_1=SPTLC1;refseq.name2_2=SPTLC1;refseq.name_1=NM_006415;refseq.name_2=NM_178324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I32I;refseq.proteinCoordStr_2=p.I32I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=93914627;refseq.start_2=93914627;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=FilteredInAll GT 0/1 chr9 94058781 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2137+2;refseq.codingCoordStr_2=c.2137+2;refseq.end_1=94058781;refseq.end_2=94058781;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=IARS;refseq.name2_2=IARS;refseq.name_1=NM_002161;refseq.name_2=NM_013417;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=94058781;refseq.start_2=94058781;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr9 94259418 . G A 317.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=99.00;MQ0=0;OQ=7216.52;QD=41.47;RankSumP=1.00000;SB=-2306.04;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1116C>T;refseq.codonCoord_2=372;refseq.end_1=94413406;refseq.end_2=94259418;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1360;refseq.name2_1=CENPP;refseq.name2_2=ASPN;refseq.name_1=NM_001012267;refseq.name_2=NM_017680;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S372S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=171;refseq.start_1=94181973;refseq.start_2=94259418;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr9 94314159 . A G 329.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=8.05;MQ=98.93;MQ0=0;OQ=8432.92;QD=20.62;RankSumP=0.0287397;SB=-3032.07;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1125T>C;refseq.codonCoord_2=375;refseq.end_1=94413406;refseq.end_2=94314159;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1190;refseq.name2_1=CENPP;refseq.name2_2=ECM2;refseq.name_1=NM_001012267;refseq.name_2=NM_001393;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S375S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=-46;refseq.start_1=94181973;refseq.start_2=94314159;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr9 94319806 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=346.54;QD=9.12;RankSumP=0.254944;SB=-86.74;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.465G>T;refseq.codonCoord_2=155;refseq.end_1=94413406;refseq.end_2=94319806;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=530;refseq.name2_1=CENPP;refseq.name2_2=ECM2;refseq.name_1=NM_001012267;refseq.name_2=NM_001393;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P155P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-17;refseq.start_1=94181973;refseq.start_2=94319806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr9 94324694 . A G 207.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=1296.46;QD=16.62;RankSumP=0.385144;SB=-322.99;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.276T>C;refseq.codonCoord_2=92;refseq.end_1=94413406;refseq.end_2=94324694;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=341;refseq.name2_1=CENPP;refseq.name2_2=ECM2;refseq.name_1=NM_001012267;refseq.name_2=NM_001393;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S92S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=-17;refseq.start_1=94181973;refseq.start_2=94324694;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr9 94324803 . T G 166.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=98.92;MQ0=0;OQ=14112.13;QD=37.53;RankSumP=1.00000;SB=-6088.51;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.167A>C;refseq.codonCoord_2=56;refseq.end_1=94413406;refseq.end_2=94324803;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=232;refseq.name2_1=CENPP;refseq.name2_2=ECM2;refseq.name_1=NM_001012267;refseq.name_2=NM_001393;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q56P;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-126;refseq.start_1=94181973;refseq.start_2=94324803;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr9 94778602 . C A 225.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=97.97;MQ0=0;OQ=1206.85;QD=15.47;RankSumP=0.0204660;SB=-506.22;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.243C>A;refseq.codingCoordStr_2=c.243C>A;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.end_1=94778602;refseq.end_2=94778602;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=871;refseq.mrnaCoord_2=771;refseq.name2_1=FGD3;refseq.name2_2=FGD3;refseq.name_1=NM_001083536;refseq.name_2=NM_033086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P81P;refseq.proteinCoordStr_2=p.P81P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-211;refseq.spliceDist_2=-211;refseq.start_1=94778602;refseq.start_2=94778602;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr9 94820286 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=420;Dels=0.00;HRun=2;HaplotypeScore=10.45;MQ=98.87;MQ0=0;OQ=16068.81;QD=38.26;RankSumP=1.00000;SB=-7283.23;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1323A>G;refseq.codingCoordStr_2=c.1323A>G;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.end_1=94820286;refseq.end_2=94820286;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1951;refseq.mrnaCoord_2=1851;refseq.name2_1=FGD3;refseq.name2_2=FGD3;refseq.name_1=NM_001083536;refseq.name_2=NM_033086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T441T;refseq.proteinCoordStr_2=p.T441T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=94820286;refseq.start_2=94820286;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr9 94822502 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1469A>C;refseq.codingCoordStr_2=c.1469A>C;refseq.codonCoord_1=490;refseq.codonCoord_2=490;refseq.end_1=94822502;refseq.end_2=94822502;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2097;refseq.mrnaCoord_2=1997;refseq.name2_1=FGD3;refseq.name2_2=FGD3;refseq.name_1=NM_001083536;refseq.name_2=NM_033086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D490A;refseq.proteinCoordStr_2=p.D490A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=94822502;refseq.start_2=94822502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr9 94877910 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.62068e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.112C>A;refseq.codonCoord=38;refseq.end=94877910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_145006;refseq.name2=SUSD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P38T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=24;refseq.start=94877910;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 94915202 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=95.56;MQ0=0;OQ=213.05;QD=7.89;RankSumP=0.383292;SB=-116.32;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.544G>C;refseq.codonCoord=182;refseq.end=94915202;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_032310;refseq.name2=C9orf89;refseq.positionType=CDS;refseq.proteinCoordStr=p.G182R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=108;refseq.start=94915202;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr9 94927141 . G T 359.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.60;MQ0=0;OQ=8240.07;QD=36.79;RankSumP=1.00000;SB=-3105.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.329C>A;refseq.codonCoord=110;refseq.end=94927141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_004148;refseq.name2=NINJ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A110D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=25;refseq.start=94927141;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr9 95137494 . G A 6 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=6.58;MQ=6.06;MQ0=247;OQ=50.25;QD=0.20;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=35;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.348C>T;refseq.codonCoord=116;refseq.end=95137494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_001098808;refseq.name2=C9orf129;refseq.positionType=CDS;refseq.proteinCoordStr=p.G116G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-18;refseq.start=95137494;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr9 95137568 rs3122944 C T 16.83 PASS AC=1;AF=0.50;AN=2;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=11.64;MQ=23.81;MQ0=83;OQ=2787.24;QD=10.56;SB=-1086.87;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.274G>A;refseq.codonCoord=92;refseq.end=95137568;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_001098808;refseq.name2=C9orf129;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-92;refseq.start=95137568;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=gatk GT:AD:DP:GL:GQ 0/1:137,126:150:-327.19,-45.18,-280.39:99 chr9 95318223 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=27;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1269C>T;refseq.codonCoord=423;refseq.end=95318223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1294;refseq.name=NM_014612;refseq.name2=FAM120A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H423H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=138;refseq.start=95318223;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr9 95366503 . G C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.0665341;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3217G>C;refseq.codonCoord=1073;refseq.end=95366503;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3242;refseq.name=NM_014612;refseq.name2=FAM120A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1073P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=172;refseq.start=95366503;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr9 95447804 . C T 257.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=98.27;MQ0=0;OQ=2063.33;QD=18.26;RankSumP=0.213061;SB=-601.06;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.372C>T;refseq.codonCoord=124;refseq.end=95447804;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_005392;refseq.name2=PHF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T124T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=73;refseq.start=95447804;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr9 95478828 . G T 41.25 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=92.52;MQ0=0;QD=8.25;RankSumP=0.100000;SB=-46.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2964G>T;refseq.codonCoord=988;refseq.end=95478828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3111;refseq.name=NM_005392;refseq.name2=PHF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P988P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=132;refseq.start=95478828;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr9 95478840 . C A 31.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.46;MQ=93.63;MQ0=0;QD=5.25;RankSumP=0.100000;SB=-41.94;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2976C>A;refseq.codonCoord=992;refseq.end=95478840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3123;refseq.name=NM_005392;refseq.name2=PHF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T992T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=144;refseq.start=95478840;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/0 chr9 96094472 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.62T>G;refseq.codonCoord=21;refseq.end=96094472;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_194320;refseq.name2=ZNF169;refseq.positionType=CDS;refseq.proteinCoordStr=p.V21G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=96094472;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 96095148 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=197;Dels=0.00;HRun=2;HaplotypeScore=6.08;MQ=98.54;MQ0=0;OQ=2915.31;QD=14.80;RankSumP=0.403816;SB=-1276.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.232G>A;refseq.codonCoord=78;refseq.end=96095148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_194320;refseq.name2=ZNF169;refseq.positionType=CDS;refseq.proteinCoordStr=p.E78K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-25;refseq.start=96095148;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr9 96102438 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.777G>A;refseq.codonCoord=259;refseq.end=96102438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_194320;refseq.name2=ZNF169;refseq.positionType=CDS;refseq.proteinCoordStr=p.E259E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=521;refseq.start=96102438;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr9 96103449 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=1334.29;QD=18.53;RankSumP=0.375895;SB=-171.79;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1788G>C;refseq.codonCoord=596;refseq.end=96103449;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1893;refseq.name=NM_194320;refseq.name2=ZNF169;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q596H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1532;refseq.start=96103449;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr9 96217277 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.314854;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.125G>C;refseq.codonCoord=42;refseq.end=96217277;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_032558;refseq.name2=HIATL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R42P;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=17;refseq.start=96217277;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 0/1 chr9 96217335 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.314302;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.183G>T;refseq.codonCoord=61;refseq.end=96217335;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_032558;refseq.name2=HIATL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L61L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-22;refseq.start=96217335;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr9 96261284 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=501;Dels=0.00;HRun=0;HaplotypeScore=33.67;MQ=98.43;MQ0=0;OQ=11098.14;QD=22.15;RankSumP=0.102226;SB=-4697.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1290G>A;refseq.codonCoord=430;refseq.end=96261284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1559;refseq.name=NM_032558;refseq.name2=HIATL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P430P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=21;refseq.start=96261284;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr9 96389487 . C G 136.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=499;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=98.72;MQ0=0;OQ=23669.50;QD=47.43;RankSumP=1.00000;SB=-7873.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.256G>C;refseq.codonCoord=86;refseq.end=96389487;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_003837;refseq.name2=FBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V86L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-78;refseq.start=96389487;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 96405541 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=3;HaplotypeScore=2.22;MQ=98.75;MQ0=0;OQ=5581.54;QD=39.31;RankSumP=1.00000;SB=-2585.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.960A>G;refseq.codingCoordStr_2=c.960A>G;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.end_1=96405541;refseq.end_2=96405541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1291;refseq.mrnaCoord_2=1190;refseq.name2_1=FBP1;refseq.name2_2=FBP1;refseq.name_1=NM_000507;refseq.name_2=NM_001127628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G320G;refseq.proteinCoordStr_2=p.G320G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=96405541;refseq.start_2=96405541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr9 96408970 . C T 242.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1276.90;QD=38.69;RankSumP=1.00000;SB=-238.35;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.653G>A;refseq.codingCoordStr_2=c.653G>A;refseq.codonCoord_1=218;refseq.codonCoord_2=218;refseq.end_1=96408970;refseq.end_2=96408970;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=883;refseq.name2_1=FBP1;refseq.name2_2=FBP1;refseq.name_1=NM_000507;refseq.name_2=NM_001127628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R218K;refseq.proteinCoordStr_2=p.R218K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=96408970;refseq.start_2=96408970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr9 96408972 . G A 137.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=504.55;QD=15.29;RankSumP=0.753249;SB=-129.62;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.651C>T;refseq.codingCoordStr_2=c.651C>T;refseq.codonCoord_1=217;refseq.codonCoord_2=217;refseq.end_1=96408972;refseq.end_2=96408972;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=881;refseq.name2_1=FBP1;refseq.name2_2=FBP1;refseq.name_1=NM_000507;refseq.name_2=NM_001127628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A217A;refseq.proteinCoordStr_2=p.A217A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=96408972;refseq.start_2=96408972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr9 96562685 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.chr=chr9;refseq.codingCoordStr=c.797+2;refseq.end=96562685;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_032823;refseq.name2=C9orf3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=96562685;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr9 96928668 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.860A>C;refseq.codonCoord=287;refseq.end=96928668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_000136;refseq.name2=FANCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.H287P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=17;refseq.start=96928668;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 97249415 . G A 162.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=438.27;QD=16.23;RankSumP=0.396478;SB=-106.62;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.3944C>T;refseq.codingCoordStr_2=c.3746C>T;refseq.codingCoordStr_3=c.3941C>T;refseq.codingCoordStr_4=c.3491C>T;refseq.codingCoordStr_5=c.3491C>T;refseq.codingCoordStr_6=c.3491C>T;refseq.codingCoordStr_7=c.3491C>T;refseq.codonCoord_1=1315;refseq.codonCoord_2=1249;refseq.codonCoord_3=1314;refseq.codonCoord_4=1164;refseq.codonCoord_5=1164;refseq.codonCoord_6=1164;refseq.codonCoord_7=1164;refseq.end_1=97249415;refseq.end_2=97249415;refseq.end_3=97249415;refseq.end_4=97249415;refseq.end_5=97249415;refseq.end_6=97249415;refseq.end_7=97249415;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=4132;refseq.mrnaCoord_2=4240;refseq.mrnaCoord_3=4086;refseq.mrnaCoord_4=3850;refseq.mrnaCoord_5=3833;refseq.mrnaCoord_6=3932;refseq.mrnaCoord_7=4006;refseq.name2_1=PTCH1;refseq.name2_2=PTCH1;refseq.name2_3=PTCH1;refseq.name2_4=PTCH1;refseq.name2_5=PTCH1;refseq.name2_6=PTCH1;refseq.name2_7=PTCH1;refseq.name_1=NM_000264;refseq.name_2=NM_001083602;refseq.name_3=NM_001083603;refseq.name_4=NM_001083604;refseq.name_5=NM_001083605;refseq.name_6=NM_001083606;refseq.name_7=NM_001083607;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.P1315L;refseq.proteinCoordStr_2=p.P1249L;refseq.proteinCoordStr_3=p.P1314L;refseq.proteinCoordStr_4=p.P1164L;refseq.proteinCoordStr_5=p.P1164L;refseq.proteinCoordStr_6=p.P1164L;refseq.proteinCoordStr_7=p.P1164L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.referenceCodon_6=CCC;refseq.referenceCodon_7=CCC;refseq.spliceDist_1=140;refseq.spliceDist_2=140;refseq.spliceDist_3=140;refseq.spliceDist_4=140;refseq.spliceDist_5=140;refseq.spliceDist_6=140;refseq.spliceDist_7=140;refseq.start_1=97249415;refseq.start_2=97249415;refseq.start_3=97249415;refseq.start_4=97249415;refseq.start_5=97249415;refseq.start_6=97249415;refseq.start_7=97249415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_5=CTC;refseq.variantCodon_6=CTC;refseq.variantCodon_7=CTC;set=Intersection GT 1/0 chr9 97282123 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.1016A>G;refseq.codingCoordStr_2=c.818A>G;refseq.codingCoordStr_3=c.1013A>G;refseq.codingCoordStr_4=c.563A>G;refseq.codingCoordStr_5=c.563A>G;refseq.codingCoordStr_6=c.563A>G;refseq.codingCoordStr_7=c.563A>G;refseq.codonCoord_1=339;refseq.codonCoord_2=273;refseq.codonCoord_3=338;refseq.codonCoord_4=188;refseq.codonCoord_5=188;refseq.codonCoord_6=188;refseq.codonCoord_7=188;refseq.end_1=97282123;refseq.end_2=97282123;refseq.end_3=97282123;refseq.end_4=97282123;refseq.end_5=97282123;refseq.end_6=97282123;refseq.end_7=97282123;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1204;refseq.mrnaCoord_2=1312;refseq.mrnaCoord_3=1158;refseq.mrnaCoord_4=922;refseq.mrnaCoord_5=905;refseq.mrnaCoord_6=1004;refseq.mrnaCoord_7=1078;refseq.name2_1=PTCH1;refseq.name2_2=PTCH1;refseq.name2_3=PTCH1;refseq.name2_4=PTCH1;refseq.name2_5=PTCH1;refseq.name2_6=PTCH1;refseq.name2_7=PTCH1;refseq.name_1=NM_000264;refseq.name_2=NM_001083602;refseq.name_3=NM_001083603;refseq.name_4=NM_001083604;refseq.name_5=NM_001083605;refseq.name_6=NM_001083606;refseq.name_7=NM_001083607;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.E339G;refseq.proteinCoordStr_2=p.E273G;refseq.proteinCoordStr_3=p.E338G;refseq.proteinCoordStr_4=p.E188G;refseq.proteinCoordStr_5=p.E188G;refseq.proteinCoordStr_6=p.E188G;refseq.proteinCoordStr_7=p.E188G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.referenceCodon_7=GAG;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.spliceDist_6=-52;refseq.spliceDist_7=-52;refseq.start_1=97282123;refseq.start_2=97282123;refseq.start_3=97282123;refseq.start_4=97282123;refseq.start_5=97282123;refseq.start_6=97282123;refseq.start_7=97282123;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;set=FilteredInAll GT 1/0 chr9 98194504 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.827C>G;refseq.codonCoord=276;refseq.end=98194504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_153695;refseq.name2=ZNF367;refseq.positionType=CDS;refseq.proteinCoordStr=p.A276G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=98194504;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 98290236 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1044A>C;refseq.codonCoord=348;refseq.end=98290236;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_014282;refseq.name2=HABP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K348N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=45;refseq.start=98290236;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr9 98838693 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.554G>A;refseq.codonCoord=185;refseq.end=98838693;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_001333;refseq.name2=CTSL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R185K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-68;refseq.start=98838693;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 0/1 chr9 99230601 . A G 292.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=98.85;MQ0=0;OQ=12336.41;QD=42.83;RankSumP=1.00000;SB=-5194.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.33A>G;refseq.codonCoord=11;refseq.end=99230601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_014290;refseq.name2=TDRD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=39;refseq.start=99230601;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr9 99234227 . T C 343.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.95;MQ0=0;OQ=8462.23;QD=41.08;RankSumP=1.00000;SB=-4175.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.449T>C;refseq.codonCoord=150;refseq.end=99234227;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_014290;refseq.name2=TDRD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V150A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=100;refseq.start=99234227;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr9 99262442 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1017A>G;refseq.codonCoord=339;refseq.end=99262442;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_014290;refseq.name2=TDRD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G339G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=162;refseq.start=99262442;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 99427940 . G T 342.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=98.95;MQ0=0;OQ=6247.79;QD=18.06;RankSumP=0.420087;SB=-2529.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.326C>A;refseq.codonCoord=109;refseq.end=99427940;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_139246;refseq.name2=TSTD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A109D;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-157;refseq.start=99427940;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr9 99428018 . C T 276.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.90;MQ0=0;OQ=4680.63;QD=22.08;RankSumP=0.0146734;SB=-1248.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.248G>A;refseq.codonCoord=83;refseq.end=99428018;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_139246;refseq.name2=TSTD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R83Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=83;refseq.start=99428018;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr9 99656062 . G A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=15;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.45G>A;refseq.codonCoord=15;refseq.end=99656062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_004473;refseq.name2=FOXE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L15L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=705;refseq.start=99656062;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT 1/1 chr9 99656404 . T C 175.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=8.89;MQ=94.20;MQ0=0;OQ=4570.83;QD=32.88;RankSumP=1.00000;SB=-1731.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.387T>C;refseq.codonCoord=129;refseq.end=99656404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_004473;refseq.name2=FOXE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L129L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=1047;refseq.start=99656404;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 99715637 . A G 171.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.82;MQ0=0;OQ=2638.65;QD=13.53;RankSumP=0.0322491;SB=-1157.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.276T>C;refseq.codonCoord=92;refseq.end=99715637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=353;refseq.name=NM_016481;refseq.name2=C9orf156;refseq.positionType=CDS;refseq.proteinCoordStr=p.N92N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=25;refseq.start=99715637;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr9 99724540 . A C 209.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.79;MQ0=0;OQ=787.17;QD=35.78;RankSumP=1.00000;SB=-247.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.57T>G;refseq.codonCoord=19;refseq.end=99724540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_016481;refseq.name2=C9orf156;refseq.positionType=CDS;refseq.proteinCoordStr=p.V19V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-20;refseq.start=99724540;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr9 99724578 . A G 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.73;MQ0=0;OQ=726.46;QD=29.06;RankSumP=1.00000;SB=-266.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.19T>C;refseq.codonCoord=7;refseq.end=99724578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_016481;refseq.name2=C9orf156;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-58;refseq.start=99724578;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr9 99729514 . A G 297.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=98.83;MQ0=0;OQ=4775.45;QD=19.57;RankSumP=0.288082;SB=-2009.24;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1428T>C;refseq.codingCoordStr_2=c.1428T>C;refseq.codonCoord_1=476;refseq.codonCoord_2=476;refseq.end_1=99729514;refseq.end_2=99729514;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1568;refseq.mrnaCoord_2=1536;refseq.name2_1=HEMGN;refseq.name2_2=HEMGN;refseq.name_1=NM_018437;refseq.name_2=NM_197978;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N476N;refseq.proteinCoordStr_2=p.N476N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=99729514;refseq.start_2=99729514;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr9 99862905 . T C 180.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.42;MQ0=0;OQ=1675.16;QD=15.51;RankSumP=0.227285;SB=-731.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.153T>C;refseq.codonCoord=51;refseq.end=99862905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_018946;refseq.name2=NANS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A51A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=21;refseq.start=99862905;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr9 99862956 . G C 266.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=98.97;MQ0=0;OQ=1685.91;QD=16.69;RankSumP=0.234097;SB=-795.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.204G>C;refseq.codonCoord=68;refseq.end=99862956;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_018946;refseq.name2=NANS;refseq.positionType=CDS;refseq.proteinCoordStr=p.E68D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=72;refseq.start=99862956;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr9 99959710 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.54A>C;refseq.codingCoordStr_2=c.54A>C;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=99959710;refseq.end_2=99959710;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=320;refseq.mrnaCoord_2=170;refseq.name2_1=CORO2A;refseq.name2_2=CORO2A;refseq.name_1=NM_003389;refseq.name_2=NM_052820;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K18N;refseq.proteinCoordStr_2=p.K18N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=99959710;refseq.start_2=99959710;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr9 100011169 . T C 205.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=98.53;MQ0=0;OQ=1799.24;QD=15.51;RankSumP=0.331837;SB=-302.53;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1752A>G;refseq.codonCoord=584;refseq.end=100011169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_018421;refseq.name2=TBC1D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A584A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=79;refseq.start=100011169;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr9 100031251 . C A 117.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=98.75;MQ0=0;OQ=1740.76;QD=12.35;RankSumP=0.487983;SB=-503.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.782G>T;refseq.codonCoord=261;refseq.end=100031251;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_018421;refseq.name2=TBC1D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G261V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=100031251;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr9 100035542 . A G 135.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=2949.25;QD=14.11;RankSumP=0.423595;SB=-434.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.758T>C;refseq.codonCoord=253;refseq.end=100035542;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_018421;refseq.name2=TBC1D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L253S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-24;refseq.start=100035542;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr9 100035579 . G T 168.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=19.64;MQ=98.69;MQ0=0;OQ=7455.21;QD=17.88;RankSumP=0.000872592;SB=-1586.42;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.721C>A;refseq.codonCoord=241;refseq.end=100035579;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_018421;refseq.name2=TBC1D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P241T;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-61;refseq.start=100035579;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr9 100095943 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=24.52;MQ=98.96;MQ0=0;OQ=8891.91;QD=22.23;RankSumP=0.343052;SB=-3358.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2605A>G;refseq.codonCoord=869;refseq.end=100095943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3065;refseq.name=NM_005458;refseq.name2=GABBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T869A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-56;refseq.start=100095943;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr9 100108401 . G A 324.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.96;MQ0=0;OQ=5114.90;QD=19.23;RankSumP=0.494881;SB=-1788.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2052C>T;refseq.codonCoord=684;refseq.end=100108401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2512;refseq.name=NM_005458;refseq.name2=GABBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P684P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=48;refseq.start=100108401;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr9 100344119 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.487C>T;refseq.codonCoord=163;refseq.end=100344119;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_005458;refseq.name2=GABBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L163L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=28;refseq.start=100344119;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr9 100380122 . A C 349.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=8.62;MQ=98.94;MQ0=0;OQ=6558.27;QD=18.85;RankSumP=0.110062;SB=-2701.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.375T>G;refseq.codonCoord=125;refseq.end=100380122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_005458;refseq.name2=GABBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P125P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=54;refseq.start=100380122;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr9 100380137 . T C 353.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=9.14;MQ=98.96;MQ0=0;OQ=7047.18;QD=19.96;RankSumP=4.17116e-08;SB=-2715.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.360A>G;refseq.codonCoord=120;refseq.end=100380137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_005458;refseq.name2=GABBR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A120A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=39;refseq.start=100380137;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/0 chr9 100573041 . C T 409.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2318.04;QD=38.00;RankSumP=1.00000;SB=-1160.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1930G>A;refseq.codonCoord=644;refseq.end=100573041;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1951;refseq.name=NM_173551;refseq.name2=ANKS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V644I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-43;refseq.start=100573041;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr9 100637370 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.936T>G;refseq.codonCoord=312;refseq.end=100637370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_024642;refseq.name2=GALNT12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G312G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=19;refseq.start=100637370;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 100788177 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=99.00;MQ0=0;OQ=1797.08;QD=12.23;RankSumP=0.103325;SB=-781.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.610A>G;refseq.codonCoord=204;refseq.end=100788177;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_001855;refseq.name2=COL15A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M204V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-39;refseq.start=100788177;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr9 100818086 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.16;MQ0=0;OQ=392.63;QD=9.35;RankSumP=0.110494;SB=-36.35;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1511G>T;refseq.codonCoord=504;refseq.end=100818086;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1717;refseq.name=NM_001855;refseq.name2=COL15A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G504V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=100818086;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr9 100837151 . C T 123.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.53;MQ0=0;OQ=2710.06;QD=13.76;RankSumP=0.00869766;SB=-1113.96;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2114C>T;refseq.codonCoord=705;refseq.end=100837151;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2320;refseq.name=NM_001855;refseq.name2=COL15A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P705L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=35;refseq.start=100837151;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 0/1 chr9 101630863 rs12344570 A G 11.45 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.45;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.718A>G;refseq.codingCoordStr_2=c.718A>G;refseq.codingCoordStr_3=c.718A>G;refseq.codingCoordStr_4=c.751A>G;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.codonCoord_3=240;refseq.codonCoord_4=251;refseq.end_1=101630863;refseq.end_2=101630863;refseq.end_3=101630863;refseq.end_4=101630863;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1447;refseq.mrnaCoord_2=2194;refseq.mrnaCoord_3=1447;refseq.mrnaCoord_4=795;refseq.name2_1=NR4A3;refseq.name2_2=NR4A3;refseq.name2_3=NR4A3;refseq.name2_4=NR4A3;refseq.name_1=NM_006981;refseq.name_2=NM_173198;refseq.name_3=NM_173199;refseq.name_4=NM_173200;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S240G;refseq.proteinCoordStr_2=p.S240G;refseq.proteinCoordStr_3=p.S240G;refseq.proteinCoordStr_4=p.S251G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-234;refseq.spliceDist_2=-234;refseq.spliceDist_3=-234;refseq.spliceDist_4=-234;refseq.start_1=101630863;refseq.start_2=101630863;refseq.start_3=101630863;refseq.start_4=101630863;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.40,-0.30,-0.00:1.76 chr9 101635506 . C T 264.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=98.76;MQ0=0;OQ=16041.16;QD=43.59;RankSumP=1.00000;SB=-6247.29;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1203C>T;refseq.codingCoordStr_2=c.1203C>T;refseq.codingCoordStr_3=c.1203C>T;refseq.codingCoordStr_4=c.1236C>T;refseq.codonCoord_1=401;refseq.codonCoord_2=401;refseq.codonCoord_3=401;refseq.codonCoord_4=412;refseq.end_1=101635506;refseq.end_2=101635506;refseq.end_3=101635506;refseq.end_4=101635506;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1932;refseq.mrnaCoord_2=2679;refseq.mrnaCoord_3=1932;refseq.mrnaCoord_4=1280;refseq.name2_1=NR4A3;refseq.name2_2=NR4A3;refseq.name2_3=NR4A3;refseq.name2_4=NR4A3;refseq.name_1=NM_006981;refseq.name_2=NM_173198;refseq.name_3=NM_173199;refseq.name_4=NM_173200;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A401A;refseq.proteinCoordStr_2=p.A401A;refseq.proteinCoordStr_3=p.A401A;refseq.proteinCoordStr_4=p.A412A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=122;refseq.spliceDist_4=-52;refseq.start_1=101635506;refseq.start_2=101635506;refseq.start_3=101635506;refseq.start_4=101635506;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr9 101770575 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.708T>G;refseq.codonCoord=236;refseq.end=101770575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_017919;refseq.name2=STX17;refseq.positionType=CDS;refseq.proteinCoordStr=p.G236G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=39;refseq.start=101770575;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 102094772 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=8.07;MQ=98.60;MQ0=0;OQ=1525.37;QD=15.41;RankSumP=0.0590983;SB=-578.95;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.2412T>C;refseq.codonCoord_2=804;refseq.end_1=102095039;refseq.end_2=102094772;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2624;refseq.name2_1=INVS;refseq.name2_2=INVS;refseq.name_1=NM_183245;refseq.name_2=NM_014425;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S804S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=344;refseq.start_1=102094550;refseq.start_2=102094772;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr9 102104351 . G A 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=604;Dels=0.00;HRun=2;HaplotypeScore=13.02;MQ=98.78;MQ0=0;OQ=24618.75;QD=40.76;RankSumP=1.00000;SB=-11292.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2685C>T;refseq.codingCoordStr_2=c.2733C>T;refseq.codonCoord_1=895;refseq.codonCoord_2=911;refseq.end_1=102104351;refseq.end_2=102104351;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2835;refseq.mrnaCoord_2=2948;refseq.name2_1=TEX10;refseq.name2_2=TEX10;refseq.name_1=NM_001161584;refseq.name_2=NM_017746;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F895F;refseq.proteinCoordStr_2=p.F911F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=102104351;refseq.start_2=102104351;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr9 102244193 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.152C>G;refseq.codonCoord=51;refseq.end=102244193;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_080655;refseq.name2=C9orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.A51G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=185;refseq.start=102244193;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 102388029 . A T 206.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.52;MQ0=0;OQ=2946.91;QD=16.37;RankSumP=0.148792;SB=-1358.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.570A>T;refseq.codonCoord=190;refseq.end=102388029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_001018116;refseq.name2=MURC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S190S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=162;refseq.start=102388029;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr9 102388455 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=98.95;MQ0=0;OQ=720.48;QD=11.81;RankSumP=0.739785;SB=-249.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.996G>A;refseq.codonCoord=332;refseq.end=102388455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1086;refseq.name=NM_001018116;refseq.name2=MURC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R332R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=588;refseq.start=102388455;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr9 103164773 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=315;Dels=0.00;HRun=2;HaplotypeScore=35.39;MQ=98.07;MQ0=0;OQ=355.10;QD=1.13;RankSumP=0.00000;SB=402.34;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1015C>A;refseq.codingCoordStr_2=c.1015C>A;refseq.codonCoord_1=339;refseq.codonCoord_2=339;refseq.end_1=103164773;refseq.end_2=103164773;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1124;refseq.mrnaCoord_2=1225;refseq.name2_1=BAAT;refseq.name2_2=BAAT;refseq.name_1=NM_001127610;refseq.name_2=NM_001701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q339K;refseq.proteinCoordStr_2=p.Q339K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=346;refseq.spliceDist_2=346;refseq.start_1=103164773;refseq.start_2=103164773;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr9 103173449 . C T 156.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.69;MQ0=0;OQ=1842.95;QD=17.06;RankSumP=0.132997;SB=-846.23;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.59G>A;refseq.codingCoordStr_2=c.59G>A;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=103173449;refseq.end_2=103173449;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=168;refseq.mrnaCoord_2=269;refseq.name2_1=BAAT;refseq.name2_2=BAAT;refseq.name_1=NM_001127610;refseq.name_2=NM_001701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R20Q;refseq.proteinCoordStr_2=p.R20Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=103173449;refseq.start_2=103173449;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr9 103202015 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.62T>G;refseq.codonCoord_2=21;refseq.end_1=103202018;refseq.end_2=103202015;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=338;refseq.name2_1=ZNF189;refseq.name2_2=ZNF189;refseq.name_1=NM_197977;refseq.name_2=NM_003452;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V21G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=29;refseq.start_1=103201644;refseq.start_2=103202015;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr9 103278551 . T A 142.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.76;MQ0=0;OQ=3141.54;QD=14.41;RankSumP=0.0858135;SB=-1576.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.645A>T;refseq.codonCoord=215;refseq.end=103278551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_032342;refseq.name2=C9orf125;refseq.positionType=CDS;refseq.proteinCoordStr=p.V215V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=722;refseq.start=103278551;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr9 103364366 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=738;Dels=0.00;HRun=0;HaplotypeScore=15.59;MQ=98.88;MQ0=0;OQ=16983.38;QD=23.01;RankSumP=0.403869;SB=-5862.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2769G>A;refseq.codonCoord=923;refseq.end=103364366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2859;refseq.name=NM_019592;refseq.name2=RNF20;refseq.positionType=CDS;refseq.proteinCoordStr=p.P923P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=18;refseq.start=103364366;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr9 103425532 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=99.00;MQ0=0;OQ=4515.39;QD=20.07;RankSumP=0.358130;SB=-411.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2503G>A;refseq.codonCoord=835;refseq.end=103425532;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3104;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D835N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=103425532;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr9 103425533 . A G 245.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=99.00;MQ0=0;OQ=4160.69;QD=18.57;RankSumP=0.191208;SB=-378.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2502T>C;refseq.codonCoord=834;refseq.end=103425533;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3103;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N834N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=103425533;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr9 103472694 . T G 278.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=4.51;MQ=98.80;MQ0=0;OQ=4726.05;QD=17.77;RankSumP=0.226599;SB=-1721.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1821A>C;refseq.codonCoord=607;refseq.end=103472694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2422;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A607A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=517;refseq.start=103472694;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr9 103472855 . A G 280.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=16.39;MQ=98.91;MQ0=0;OQ=6385.94;QD=19.59;RankSumP=0.331265;SB=-2649.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1660T>C;refseq.codonCoord=554;refseq.end=103472855;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2261;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L554L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=356;refseq.start=103472855;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr9 103473056 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=528;Dels=0.00;HRun=0;HaplotypeScore=20.88;MQ=98.64;MQ0=0;OQ=9354.34;QD=17.72;RankSumP=0.0978961;SB=-3746.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1459G>A;refseq.codonCoord=487;refseq.end=103473056;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2060;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G487R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=155;refseq.start=103473056;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr9 103488884 . C T 434.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=4841.41;QD=40.01;RankSumP=1.00000;SB=-1877.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1119G>A;refseq.codonCoord=373;refseq.end=103488884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1720;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G373G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-186;refseq.start=103488884;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr9 103488919 . C T 229.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.66;MQ0=0;OQ=2793.01;QD=15.35;RankSumP=0.301816;SB=-1162.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1084G>A;refseq.codonCoord=362;refseq.end=103488919;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1685;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V362M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-221;refseq.start=103488919;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr9 103539396 . T C 177 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.45;MQ0=0;OQ=9062.32;QD=38.24;RankSumP=1.00000;SB=-2495.31;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.687A>G;refseq.codonCoord=229;refseq.end=103539396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1288;refseq.name=NM_133445;refseq.name2=GRIN3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P229P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-13;refseq.start=103539396;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr9 105916843 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1583C>T;refseq.codingCoordStr_2=c.1583C>T;refseq.codingCoordStr_3=c.1583C>T;refseq.codonCoord_1=528;refseq.codonCoord_2=528;refseq.codonCoord_3=528;refseq.end_1=105916843;refseq.end_2=105916843;refseq.end_3=105916843;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1933;refseq.mrnaCoord_2=1871;refseq.mrnaCoord_3=1862;refseq.name2_1=SMC2;refseq.name2_2=SMC2;refseq.name2_3=SMC2;refseq.name_1=NM_001042550;refseq.name_2=NM_001042551;refseq.name_3=NM_006444;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S528F;refseq.proteinCoordStr_2=p.S528F;refseq.proteinCoordStr_3=p.S528F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=105916843;refseq.start_2=105916843;refseq.start_3=105916843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr9 105916898 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1638A>G;refseq.codingCoordStr_2=c.1638A>G;refseq.codingCoordStr_3=c.1638A>G;refseq.codonCoord_1=546;refseq.codonCoord_2=546;refseq.codonCoord_3=546;refseq.end_1=105916898;refseq.end_2=105916898;refseq.end_3=105916898;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1988;refseq.mrnaCoord_2=1926;refseq.mrnaCoord_3=1917;refseq.name2_1=SMC2;refseq.name2_2=SMC2;refseq.name2_3=SMC2;refseq.name_1=NM_001042550;refseq.name_2=NM_001042551;refseq.name_3=NM_006444;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G546G;refseq.proteinCoordStr_2=p.G546G;refseq.proteinCoordStr_3=p.G546G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=105916898;refseq.start_2=105916898;refseq.start_3=105916898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr9 106306417 . T C 260.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=98.71;MQ0=0;OQ=4547.97;QD=22.19;RankSumP=0.284929;SB=-1160.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.53T>C;refseq.codonCoord=18;refseq.end=106306417;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=53;refseq.name=NM_001004485;refseq.name2=OR13F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F18S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=53;refseq.start=106306417;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr9 106306595 . C G 102.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=650;Dels=0.00;HRun=0;HaplotypeScore=18.00;MQ=98.68;MQ0=0;OQ=13168.88;QD=20.26;RankSumP=0.0514017;SB=-4794.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.231C>G;refseq.codonCoord=77;refseq.end=106306595;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_001004485;refseq.name2=OR13F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A77A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=231;refseq.start=106306595;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr9 106306665 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=18.29;MQ=98.84;MQ0=0;OQ=5029.11;QD=17.22;RankSumP=0.420264;SB=-1556.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.301A>G;refseq.codonCoord=101;refseq.end=106306665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_001004485;refseq.name2=OR13F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M101V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=301;refseq.start=106306665;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr9 106306764 . G A 255.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=98.44;MQ0=0;OQ=4802.93;QD=20.53;RankSumP=0.410608;SB=-1110.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.400G>A;refseq.codonCoord=134;refseq.end=106306764;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_001004485;refseq.name2=OR13F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=400;refseq.start=106306764;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr9 106307125 . C T 343.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.98;MQ0=0;OQ=7291.51;QD=17.24;RankSumP=0.226337;SB=-1387.76;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.761C>T;refseq.codonCoord=254;refseq.end=106307125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_001004485;refseq.name2=OR13F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T254M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-200;refseq.start=106307125;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr9 106371325 . C A 203.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=18.45;MQ=98.88;MQ0=0;OQ=7277.70;QD=18.85;RankSumP=0.0130000;SB=-1659.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.56C>A;refseq.codonCoord=19;refseq.end=106371325;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_001004483;refseq.name2=OR13C8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A19D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=56;refseq.start=106371325;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr9 106400647 . A G 313.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=96.08;MQ0=0;OQ=4121.95;QD=17.47;RankSumP=0.426040;SB=-1488.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.869T>C;refseq.codonCoord=290;refseq.end=106400647;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M290T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-89;refseq.start=106400647;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr9 106400672 . T C 335.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=97.53;MQ0=0;OQ=4104.51;QD=17.17;RankSumP=0.269188;SB=-1394.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.844A>G;refseq.codonCoord=282;refseq.end=106400672;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I282V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-114;refseq.start=106400672;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr9 106400743 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=30.38;MQ=98.68;MQ0=0;OQ=6582.50;QD=18.75;RankSumP=0.157618;SB=-2112.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.773T>C;refseq.codonCoord=258;refseq.end=106400743;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M258T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-185;refseq.start=106400743;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr9 106400950 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=975;Dels=0.00;HRun=0;HaplotypeScore=26.92;MQ=90.67;MQ0=6;OQ=18105.24;QD=18.57;RankSumP=0.327539;SB=-6807.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.566G>A;refseq.codonCoord=189;refseq.end=106400950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C189Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-392;refseq.start=106400950;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr9 106401167 . C T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.372544;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.349G>A;refseq.codonCoord=117;refseq.end=106401167;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V117M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=349;refseq.start=106401167;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr9 106401260 . G C 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=17.32;MQ0=200;OQ=2195.42;QD=6.40;RankSumP=0.428571;SB=-651.55;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.256C>G;refseq.codonCoord=86;refseq.end=106401260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=256;refseq.start=106401260;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr9 106401270 . T C 255.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=310;Dels=0.00;HRun=1;HaplotypeScore=5.66;MQ=11.85;MQ0=247;QD=0.82;RankSumP=0.750000;SB=-49.68;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.246A>G;refseq.codonCoord=82;refseq.end=106401270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=246;refseq.start=106401270;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/0 chr9 106401272 . G A 154.86 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=1;HaplotypeScore=7.66;MQ=11.30;MQ0=252;QD=0.50;SB=-47.66;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.244C>T;refseq.codonCoord=82;refseq.end=106401272;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=244;refseq.start=106401272;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:277,29:32:-28.41,-9.64,-93.91:99 chr9 106401273 . C G 202.59 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=312;Dels=0.00;HRun=1;HaplotypeScore=8.66;MQ=11.14;MQ0=258;QD=0.65;SB=-58.92;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.243G>C;refseq.codonCoord=81;refseq.end=106401273;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T81T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=243;refseq.start=106401273;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:278,30:30:-32.59,-9.04,-98.23:99 chr9 106401281 rs7025570 G A 779.52 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=313;Dels=0.00;HRun=2;HaplotypeScore=7.15;MQ=8.09;MQ0=279;QD=2.49;SB=-10.00;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.235C>T;refseq.codonCoord=79;refseq.end=106401281;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P79S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=235;refseq.start=106401281;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:279,34:30:-90.27,-9.03,-34.72:99 chr9 106401311 rs57169158 A T 0.52 PASS AC=1;AF=0.50;AN=2;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=18.05;MQ=10.41;MQ0=389;OQ=488.60;QD=1.20;SB=-76.74;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.205T>A;refseq.codonCoord=69;refseq.end=106401311;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L69M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=205;refseq.start=106401311;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=gatk GT:AD:DP:GL:GQ 0/1:341,63:16:-56.96,-4.82,-8.50:36.81 chr9 106401420 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=658;Dels=0.00;HRun=0;HaplotypeScore=24.14;MQ=32.84;MQ0=568;OQ=1429.12;QD=2.17;RankSumP=0.390751;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.96C>G;refseq.codonCoord=32;refseq.end=106401420;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_001004482;refseq.name2=OR13C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F32L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=96;refseq.start=106401420;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr9 106406829 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=609;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=56.84;MQ0=200;OQ=8085.32;QD=13.28;RankSumP=0.378524;SB=-2765.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.901A>G;refseq.codonCoord=301;refseq.end=106406829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K301E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-57;refseq.start=106406829;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr9 106407214 . G T 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.149403;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.516C>A;refseq.codonCoord=172;refseq.end=106407214;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N172K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-442;refseq.start=106407214;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chr9 106407252 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=516;Dels=0.00;HRun=2;HaplotypeScore=7.03;MQ=46.58;MQ0=86;OQ=1250.10;QD=2.42;RankSumP=0.434229;SB=477.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.478T>A;refseq.codonCoord=160;refseq.end=106407252;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S160T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=478;refseq.start=106407252;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 0/1 chr9 106407420 . C T 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.373407;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.310G>A;refseq.codonCoord=104;refseq.end=106407420;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G104S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=310;refseq.start=106407420;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 0/1 chr9 106407433 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=756;Dels=0.00;HRun=0;HaplotypeScore=23.89;MQ=23.97;MQ0=213;OQ=9144.78;QD=12.10;RankSumP=0.213723;SB=-2123.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.297G>A;refseq.codonCoord=99;refseq.end=106407433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=297;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V99V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=297;refseq.start=106407433;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr9 106407487 . C T 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.547619;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=106407487;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T81T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=243;refseq.start=106407487;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr9 106407662 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=534;Dels=0.00;HRun=0;HaplotypeScore=9.10;MQ=42.72;MQ0=417;OQ=1924.78;QD=3.60;RankSumP=0.248184;SB=-147.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.68T>A;refseq.codonCoord=23;refseq.end=106407662;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=68;refseq.name=NM_001004481;refseq.name2=OR13C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=68;refseq.start=106407662;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr9 106419998 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=582;Dels=0.00;HRun=0;HaplotypeScore=33.62;MQ=49.21;MQ0=160;OQ=1939.45;QD=3.33;RankSumP=0.421120;SB=-187.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=106419998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=309;refseq.name=NM_001001956;refseq.name2=OR13C9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L103L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=309;refseq.start=106419998;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 0/1 chr9 106420036 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=9.80;MQ=42.30;MQ0=65;OQ=4858.30;QD=10.34;RankSumP=0.131494;SB=-1672.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.271A>T;refseq.codonCoord=91;refseq.end=106420036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_001001956;refseq.name2=OR13C9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=271;refseq.start=106420036;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr9 106420235 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=464;Dels=0.00;HRun=2;HaplotypeScore=10.95;MQ=83.75;MQ0=22;OQ=8351.93;QD=18.00;RankSumP=0.289282;SB=-2473.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.72G>T;refseq.codonCoord=24;refseq.end=106420235;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_001001956;refseq.name2=OR13C9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E24D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=72;refseq.start=106420235;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr9 106555035 . G A 188.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=869.95;QD=18.12;RankSumP=0.348837;SB=-276.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.299G>A;refseq.codonCoord=100;refseq.end=106555035;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_015469;refseq.name2=NIPSNAP3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R100Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=28;refseq.start=106555035;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr9 106596614 . T A 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=18;RankSumP=0.500000;SecondBestBaseQ=22;refseq.chr=chr9;refseq.codingCoordStr=c.5383-2;refseq.end=106596614;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005502;refseq.name2=ABCA1;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=106596614;refseq.transcriptStrand=-;set=soap GT 1/0 chr9 106602625 . T C 214.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=13.10;MQ=98.94;MQ0=0;OQ=19231.74;QD=40.75;RankSumP=1.00000;SB=-6498.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4760A>G;refseq.codonCoord=1587;refseq.end=106602625;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5073;refseq.name=NM_005502;refseq.name2=ABCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1587R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-14;refseq.start=106602625;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr9 106639557 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1167T>C;refseq.codonCoord=389;refseq.end=106639557;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_005502;refseq.name2=ABCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T389T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-28;refseq.start=106639557;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr9 106660688 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.84;MQ0=0;OQ=4759.17;QD=20.78;RankSumP=0.446487;SB=-1507.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.656G>A;refseq.codonCoord=219;refseq.end=106660688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_005502;refseq.name2=ABCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R219K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-65;refseq.start=106660688;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr9 106663850 . C T 330.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=11.26;MQ=98.57;MQ0=0;OQ=8169.70;QD=18.48;RankSumP=0.354468;SB=-1490.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.474G>A;refseq.codonCoord=158;refseq.end=106663850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_005502;refseq.name2=ABCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L158L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=53;refseq.start=106663850;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr9 108727224 . A G 309.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=7.61;MQ=98.99;MQ0=0;OQ=9089.03;QD=22.39;RankSumP=0.251455;SB=-2747.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1210A>G;refseq.codonCoord=404;refseq.end=108727224;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1499;refseq.name=NM_021224;refseq.name2=ZNF462;refseq.positionType=CDS;refseq.proteinCoordStr=p.M404V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=990;refseq.start=108727224;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr9 108729573 . C T 204.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=98.53;MQ0=0;OQ=2440.57;QD=19.22;RankSumP=0.132916;SB=-1001.89;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3559C>T;refseq.codonCoord=1187;refseq.end=108729573;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3848;refseq.name=NM_021224;refseq.name2=ZNF462;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1187S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-2289;refseq.start=108729573;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr9 108729680 . T C 291.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.67;MQ0=0;OQ=1991.81;QD=17.02;RankSumP=0.322036;SB=-1000.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3666T>C;refseq.codonCoord=1222;refseq.end=108729680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3955;refseq.name=NM_021224;refseq.name2=ZNF462;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1222N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-2182;refseq.start=108729680;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr9 108731497 . A G 210.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.45;MQ0=0;OQ=1509.10;QD=16.40;RankSumP=0.417633;SB=-312.95;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.5483A>G;refseq.codonCoord=1828;refseq.end=108731497;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5772;refseq.name=NM_021224;refseq.name2=ZNF462;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1828S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-365;refseq.start=108731497;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr9 108812966 . A T 157.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=1641.09;QD=14.65;RankSumP=0.403147;SB=-529.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.7355A>T;refseq.codonCoord=2452;refseq.end=108812966;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7644;refseq.name=NM_021224;refseq.name2=ZNF462;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2452L;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=42;refseq.start=108812966;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr9 109085787 . C T 28.32 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.35;MQ0=0;QD=3.15;SB=-32.62;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.56C>T;refseq.codonCoord=19;refseq.end=109085787;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_002874;refseq.name2=RAD23B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-11;refseq.start=109085787;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:8:-8.53,-2.41,-24.25:61.15 chr9 110665450 . C G 197.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.86;MQ0=0;OQ=3124.11;QD=17.26;RankSumP=0.163386;SB=-1404.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1027C>G;refseq.codonCoord=343;refseq.end=110665450;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_006687;refseq.name2=ACTL7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L343V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-407;refseq.start=110665450;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr9 110693395 . C G 310.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.63;MQ0=0;OQ=4448.53;QD=46.34;RankSumP=1.00000;SB=-1945.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3069G>C;refseq.codonCoord=1023;refseq.end=110693395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3589;refseq.name=NM_003640;refseq.name2=IKBKAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1023L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-92;refseq.start=110693395;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 110703565 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1975A>C;refseq.codonCoord=659;refseq.end=110703565;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2495;refseq.name=NM_003640;refseq.name2=IKBKAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T659P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-40;refseq.start=110703565;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 110921748 . T C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=95.34;QD=6.36;RankSumP=0.0946387;SB=-71.85;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.267A>G;refseq.codonCoord=89;refseq.end=110921748;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_032012;refseq.name2=C9orf5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L89L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=299;refseq.start=110921748;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr9 110984870 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.31;MQ0=0;OQ=1859.59;QD=14.30;RankSumP=0.249405;SB=-637.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2447A>C;refseq.codonCoord=816;refseq.end=110984870;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2742;refseq.name=NM_019114;refseq.name2=EPB41L4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N816T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=29;refseq.start=110984870;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr9 110996420 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=22.20;MQ=84.03;MQ0=14;OQ=6996.64;QD=18.03;RankSumP=0.0773712;SB=-2245.13;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2124C>T;refseq.codonCoord=708;refseq.end=110996420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2419;refseq.name=NM_019114;refseq.name2=EPB41L4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A708A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=79;refseq.start=110996420;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr9 111212353 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_2=c.1342G>C;refseq.codingCoordStr_3=c.1084G>C;refseq.codingCoordStr_4=c.949G>C;refseq.codingCoordStr_5=c.616G>C;refseq.codingCoordStr_6=c.481G>C;refseq.codingCoordStr_7=c.1477G>C;refseq.codonCoord_2=448;refseq.codonCoord_3=362;refseq.codonCoord_4=317;refseq.codonCoord_5=206;refseq.codonCoord_6=161;refseq.codonCoord_7=493;refseq.end_1=111212353;refseq.end_2=111212353;refseq.end_3=111212353;refseq.end_4=111212353;refseq.end_5=111212353;refseq.end_6=111212353;refseq.end_7=111212353;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=1454;refseq.mrnaCoord_3=3638;refseq.mrnaCoord_4=3503;refseq.mrnaCoord_5=1072;refseq.mrnaCoord_6=937;refseq.mrnaCoord_7=1589;refseq.name2_1=PTPN3;refseq.name2_2=PTPN3;refseq.name2_3=PTPN3;refseq.name2_4=PTPN3;refseq.name2_5=PTPN3;refseq.name2_6=PTPN3;refseq.name2_7=PTPN3;refseq.name_1=NR_026918;refseq.name_2=NM_001145368;refseq.name_3=NM_001145369;refseq.name_4=NM_001145370;refseq.name_5=NM_001145371;refseq.name_6=NM_001145372;refseq.name_7=NM_002829;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.A448P;refseq.proteinCoordStr_3=p.A362P;refseq.proteinCoordStr_4=p.A317P;refseq.proteinCoordStr_5=p.A206P;refseq.proteinCoordStr_6=p.A161P;refseq.proteinCoordStr_7=p.A493P;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.spliceDist_4=-24;refseq.spliceDist_5=-24;refseq.spliceDist_6=-24;refseq.spliceDist_7=-24;refseq.start_1=111212353;refseq.start_2=111212353;refseq.start_3=111212353;refseq.start_4=111212353;refseq.start_5=111212353;refseq.start_6=111212353;refseq.start_7=111212353;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;set=FilteredInAll GT 1/0 chr9 111939182 . A C 137.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.77;MQ0=0;OQ=1362.63;QD=31.69;RankSumP=1.00000;SB=-611.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1111A>C;refseq.codingCoordStr_2=c.844A>C;refseq.codingCoordStr_3=c.1537A>C;refseq.codingCoordStr_4=c.1537A>C;refseq.codonCoord_1=371;refseq.codonCoord_2=282;refseq.codonCoord_3=513;refseq.codonCoord_4=513;refseq.end_1=111939182;refseq.end_2=111939182;refseq.end_3=111939182;refseq.end_4=111939182;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1115;refseq.mrnaCoord_2=1049;refseq.mrnaCoord_3=1729;refseq.mrnaCoord_4=1729;refseq.name2_1=AKAP2;refseq.name2_2=AKAP2;refseq.name2_3=PALM2-AKAP2;refseq.name2_4=PALM2-AKAP2;refseq.name_1=NM_001004065;refseq.name_2=NM_001136562;refseq.name_3=NM_007203;refseq.name_4=NM_147150;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K371Q;refseq.proteinCoordStr_2=p.K282Q;refseq.proteinCoordStr_3=p.K513Q;refseq.proteinCoordStr_4=p.K513Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=955;refseq.spliceDist_2=955;refseq.spliceDist_3=955;refseq.spliceDist_4=955;refseq.start_1=111939182;refseq.start_2=111939182;refseq.start_3=111939182;refseq.start_4=111939182;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/1 chr9 111940020 . T C 168.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.69;MQ0=0;OQ=1428.02;QD=31.73;RankSumP=1.00000;SB=-647.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1949T>C;refseq.codingCoordStr_2=c.1682T>C;refseq.codingCoordStr_3=c.2375T>C;refseq.codingCoordStr_4=c.2375T>C;refseq.codonCoord_1=650;refseq.codonCoord_2=561;refseq.codonCoord_3=792;refseq.codonCoord_4=792;refseq.end_1=111940020;refseq.end_2=111940020;refseq.end_3=111940020;refseq.end_4=111940020;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1953;refseq.mrnaCoord_2=1887;refseq.mrnaCoord_3=2567;refseq.mrnaCoord_4=2567;refseq.name2_1=AKAP2;refseq.name2_2=AKAP2;refseq.name2_3=PALM2-AKAP2;refseq.name2_4=PALM2-AKAP2;refseq.name_1=NM_001004065;refseq.name_2=NM_001136562;refseq.name_3=NM_007203;refseq.name_4=NM_147150;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L650S;refseq.proteinCoordStr_2=p.L561S;refseq.proteinCoordStr_3=p.L792S;refseq.proteinCoordStr_4=p.L792S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.spliceDist_1=-621;refseq.spliceDist_2=-621;refseq.spliceDist_3=-621;refseq.spliceDist_4=-621;refseq.start_1=111940020;refseq.start_2=111940020;refseq.start_3=111940020;refseq.start_4=111940020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=Intersection GT 1/1 chr9 111940303 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=7;RankSumP=4.25824e-10;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.2232G>C;refseq.codingCoordStr_2=c.1965G>C;refseq.codingCoordStr_3=c.2658G>C;refseq.codingCoordStr_4=c.2658G>C;refseq.codonCoord_1=744;refseq.codonCoord_2=655;refseq.codonCoord_3=886;refseq.codonCoord_4=886;refseq.end_1=111940303;refseq.end_2=111940303;refseq.end_3=111940303;refseq.end_4=111940303;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2236;refseq.mrnaCoord_2=2170;refseq.mrnaCoord_3=2850;refseq.mrnaCoord_4=2850;refseq.name2_1=AKAP2;refseq.name2_2=AKAP2;refseq.name2_3=PALM2-AKAP2;refseq.name2_4=PALM2-AKAP2;refseq.name_1=NM_001004065;refseq.name_2=NM_001136562;refseq.name_3=NM_007203;refseq.name_4=NM_147150;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G744G;refseq.proteinCoordStr_2=p.G655G;refseq.proteinCoordStr_3=p.G886G;refseq.proteinCoordStr_4=p.G886G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_1=-338;refseq.spliceDist_2=-338;refseq.spliceDist_3=-338;refseq.spliceDist_4=-338;refseq.start_1=111940303;refseq.start_2=111940303;refseq.start_3=111940303;refseq.start_4=111940303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT 0/1 chr9 112003325 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1057;Dels=0.00;HRun=1;HaplotypeScore=16.62;MQ=98.68;MQ0=0;OQ=42828.10;QD=40.52;RankSumP=1.00000;SB=-20730.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.444T>C;refseq.codonCoord=148;refseq.end=112003325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=998;refseq.name=NM_001012993;refseq.name2=C9orf152;refseq.positionType=CDS;refseq.proteinCoordStr=p.D148D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=251;refseq.start=112003325;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/1 chr9 112131344 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=589.09;QD=7.96;RankSumP=0.374648;SB=-250.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.178A>C;refseq.codonCoord=60;refseq.end=112131344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_001003936;refseq.name2=TXNDC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N60H;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=112131344;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr9 112677675 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.65;MQ0=0;OQ=944.98;QD=12.94;RankSumP=0.166546;SB=-377.84;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.942C>T;refseq.codingCoordStr_2=c.942C>T;refseq.codonCoord_1=314;refseq.codonCoord_2=314;refseq.end_1=112677675;refseq.end_2=112677675;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1290;refseq.mrnaCoord_2=1368;refseq.name2_1=LPAR1;refseq.name2_2=LPAR1;refseq.name_1=NM_001401;refseq.name_2=NM_057159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R314R;refseq.proteinCoordStr_2=p.R314R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=112677675;refseq.start_2=112677675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr9 112744085 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.230A>C;refseq.codingCoordStr_2=c.230A>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=112744085;refseq.end_2=112744085;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=578;refseq.mrnaCoord_2=656;refseq.name2_1=LPAR1;refseq.name2_2=LPAR1;refseq.name_1=NM_001401;refseq.name_2=NM_057159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N77T;refseq.proteinCoordStr_2=p.N77T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=185;refseq.spliceDist_2=185;refseq.start_1=112744085;refseq.start_2=112744085;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr9 113130100 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=520;Dels=0.00;HRun=1;HaplotypeScore=11.41;MQ=98.89;MQ0=0;OQ=8981.15;QD=17.27;RankSumP=0.400292;SB=-3394.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=113130100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_205859;refseq.name2=OR2K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A145A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=435;refseq.start=113130100;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr9 113130222 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=224;Dels=0.00;HRun=2;HaplotypeScore=4.31;MQ=99.00;MQ0=0;OQ=4834.17;QD=21.58;RankSumP=0.0225553;SB=-1657.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.313C>T;refseq.codonCoord=105;refseq.end=113130222;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_205859;refseq.name2=OR2K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L105F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=313;refseq.start=113130222;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr9 113399445 . C A 325.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.03;MQ0=0;OQ=4397.38;QD=39.26;RankSumP=1.00000;SB=-1576.01;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.79G>T;refseq.codingCoordStr_2=c.79G>T;refseq.codingCoordStr_3=c.79G>T;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.codonCoord_3=27;refseq.end_1=113399445;refseq.end_2=113399445;refseq.end_3=113399445;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=342;refseq.mrnaCoord_2=342;refseq.mrnaCoord_3=182;refseq.name2_1=PTGR1;refseq.name2_2=PTGR1;refseq.name2_3=PTGR1;refseq.name_1=NM_001146108;refseq.name_2=NM_001146109;refseq.name_3=NM_012212;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A27S;refseq.proteinCoordStr_2=p.A27S;refseq.proteinCoordStr_3=p.A27S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=113399445;refseq.start_2=113399445;refseq.start_3=113399445;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr9 113494365 . T C 62.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=1;HaplotypeScore=14.82;MQ=98.95;MQ0=0;OQ=13630.55;QD=41.68;RankSumP=1.00000;SB=-6374.35;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3404A>G;refseq.codingCoordStr_2=c.3521A>G;refseq.codonCoord_1=1135;refseq.codonCoord_2=1174;refseq.end_1=113494365;refseq.end_2=113494365;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3649;refseq.mrnaCoord_2=3656;refseq.name2_1=C9orf84;refseq.name2_2=C9orf84;refseq.name_1=NM_001080551;refseq.name_2=NM_173521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1135G;refseq.proteinCoordStr_2=p.E1174G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=248;refseq.spliceDist_2=248;refseq.start_1=113494365;refseq.start_2=113494365;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr9 113494401 . A G 246.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.96;MQ0=0;OQ=12936.07;QD=41.86;RankSumP=1.00000;SB=-6097.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3368T>C;refseq.codingCoordStr_2=c.3485T>C;refseq.codonCoord_1=1123;refseq.codonCoord_2=1162;refseq.end_1=113494401;refseq.end_2=113494401;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3613;refseq.mrnaCoord_2=3620;refseq.name2_1=C9orf84;refseq.name2_2=C9orf84;refseq.name_1=NM_001080551;refseq.name_2=NM_173521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1123T;refseq.proteinCoordStr_2=p.I1162T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=212;refseq.spliceDist_2=212;refseq.start_1=113494401;refseq.start_2=113494401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr9 113502143 . A G 255.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=3581.39;QD=37.70;RankSumP=1.00000;SB=-620.36;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2786T>C;refseq.codingCoordStr_2=c.2903T>C;refseq.codonCoord_1=929;refseq.codonCoord_2=968;refseq.end_1=113502143;refseq.end_2=113502143;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3031;refseq.mrnaCoord_2=3038;refseq.name2_1=C9orf84;refseq.name2_2=C9orf84;refseq.name_1=NM_001080551;refseq.name_2=NM_173521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L929P;refseq.proteinCoordStr_2=p.L968P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=113502143;refseq.start_2=113502143;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr9 113504308 . T C 389.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.93;MQ0=0;OQ=3365.82;QD=42.07;RankSumP=1.00000;SB=-1072.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2678A>G;refseq.codingCoordStr_2=c.2795A>G;refseq.codonCoord_1=893;refseq.codonCoord_2=932;refseq.end_1=113504308;refseq.end_2=113504308;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2923;refseq.mrnaCoord_2=2930;refseq.name2_1=C9orf84;refseq.name2_2=C9orf84;refseq.name_1=NM_001080551;refseq.name_2=NM_173521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y893C;refseq.proteinCoordStr_2=p.Y932C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=113504308;refseq.start_2=113504308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr9 113530129 . T C 399.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=6124.59;QD=39.01;RankSumP=1.00000;SB=-2846.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1130A>G;refseq.codingCoordStr_2=c.1247A>G;refseq.codonCoord_1=377;refseq.codonCoord_2=416;refseq.end_1=113530129;refseq.end_2=113530129;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1375;refseq.mrnaCoord_2=1382;refseq.name2_1=C9orf84;refseq.name2_2=C9orf84;refseq.name_1=NM_001080551;refseq.name_2=NM_173521;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H377R;refseq.proteinCoordStr_2=p.H416R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=113530129;refseq.start_2=113530129;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr9 113843994 . G A 133.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=98.92;MQ0=0;OQ=4005.21;QD=22.01;RankSumP=0.0964480;SB=-984.05;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2217C>T;refseq.codonCoord=739;refseq.end=113843994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2258;refseq.name=NM_022486;refseq.name2=SUSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L739L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-27;refseq.start=113843994;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr9 114377312 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=30;Dels=0.00;HRun=2;HaplotypeScore=3.97;MQ=97.56;MQ0=0;OQ=99.69;QD=3.32;RankSumP=0.00857339;SB=20.10;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1131T>C;refseq.codonCoord=377;refseq.end=114377312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_133465;refseq.name2=KIAA1958;refseq.positionType=CDS;refseq.proteinCoordStr=p.A377A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-41;refseq.start=114377312;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr9 114607005 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=790;Dels=0.00;HRun=0;HaplotypeScore=27.90;MQ=98.79;MQ0=0;OQ=14987.58;QD=18.97;RankSumP=0.371396;SB=-5850.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.285T>C;refseq.codonCoord=95;refseq.end=114607005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_001012994;refseq.name2=SNX30;refseq.positionType=CDS;refseq.proteinCoordStr=p.V95V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-64;refseq.start=114607005;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr9 114619829 . G C 136.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=2;HaplotypeScore=4.00;MQ=98.75;MQ0=0;OQ=4112.26;QD=18.52;RankSumP=0.454467;SB=-1265.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.372G>C;refseq.codonCoord=124;refseq.end=114619829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_001012994;refseq.name2=SNX30;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=24;refseq.start=114619829;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr9 114640669 . T C 150.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=98.83;MQ0=0;OQ=6157.08;QD=35.59;RankSumP=1.00000;SB=-2857.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.885T>C;refseq.codonCoord=295;refseq.end=114640669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_001012994;refseq.name2=SNX30;refseq.positionType=CDS;refseq.proteinCoordStr=p.A295A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=71;refseq.start=114640669;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr9 114692702 . G T 120.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=97.78;MQ0=0;OQ=770.81;QD=13.29;RankSumP=0.111677;SB=-182.19;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.81C>A;refseq.codonCoord=27;refseq.end=114692702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_033051;refseq.name2=SLC46A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A27A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=313;refseq.start=114692702;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr9 114692748 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.15023e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.35A>C;refseq.codonCoord=12;refseq.end=114692748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_033051;refseq.name2=SLC46A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H12P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=267;refseq.start=114692748;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 114858770 . A T 71.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=707.50;QD=29.48;RankSumP=1.00000;SB=-353.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.20T>A;refseq.codonCoord=7;refseq.end=114858770;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_003408;refseq.name2=ZFP37;refseq.positionType=CDS;refseq.proteinCoordStr=p.V7D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=48;refseq.start=114858770;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr9 115060819 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.227T>G;refseq.codonCoord=76;refseq.end=115060819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_001859;refseq.name2=SLC31A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V76G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=25;refseq.start=115060819;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 115162775 . A G 375.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.48;MQ0=0;OQ=2537.29;QD=35.74;RankSumP=1.00000;SB=-921.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.468A>G;refseq.codonCoord=156;refseq.end=115162775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_017688;refseq.name2=BSPRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.K156K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-64;refseq.start=115162775;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr9 115176019 . C T 204.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.89;MQ0=0;OQ=1359.70;QD=18.63;RankSumP=0.412955;SB=-362.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.437G>A;refseq.codonCoord=146;refseq.end=115176019;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_031219;refseq.name2=HDHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G146E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-501;refseq.start=115176019;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr9 115193721 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=11.71;MQ=98.22;MQ0=0;OQ=2309.16;QD=12.41;RankSumP=0.371380;SB=-603.77;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.168T>C;refseq.codonCoord=56;refseq.end=115193721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_000031;refseq.name2=ALAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y56Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=115193721;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr9 115215997 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr9;refseq.codingCoordStr=c.287+2;refseq.end=115215997;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_152786;refseq.name2=C9orf43;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=115215997;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr9 115226365 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=12.34;MQ=98.99;MQ0=0;OQ=1931.17;QD=12.79;RankSumP=0.353342;SB=-865.16;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.755A>G;refseq.codonCoord=252;refseq.end=115226365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_152786;refseq.name2=C9orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.D252G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-53;refseq.start=115226365;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr9 115319701 . T C 201.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=9.51;MQ=98.64;MQ0=0;OQ=5702.39;QD=15.80;RankSumP=0.268227;SB=-1552.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1398T>C;refseq.codingCoordStr_2=c.891T>C;refseq.codingCoordStr_3=c.1734T>C;refseq.codonCoord_1=466;refseq.codonCoord_2=297;refseq.codonCoord_3=578;refseq.end_1=115319701;refseq.end_2=115319701;refseq.end_3=115319701;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1472;refseq.mrnaCoord_2=1041;refseq.mrnaCoord_3=1943;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name_1=NM_017790;refseq.name_2=NM_130795;refseq.name_3=NM_144488;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y466Y;refseq.proteinCoordStr_2=p.Y297Y;refseq.proteinCoordStr_3=p.Y578Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=115319701;refseq.start_2=115319701;refseq.start_3=115319701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/0 chr9 115385939 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=97.75;MQ0=0;OQ=459.21;QD=14.35;RankSumP=0.753884;SB=-185.26;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.389G>A;refseq.codingCoordStr_3=c.1583G>A;refseq.codingCoordStr_4=c.2426G>A;refseq.codonCoord_2=130;refseq.codonCoord_3=528;refseq.codonCoord_4=809;refseq.end_1=115396520;refseq.end_2=115385939;refseq.end_3=115385939;refseq.end_4=115385939;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=906;refseq.mrnaCoord_3=1733;refseq.mrnaCoord_4=2635;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name_1=NM_134427;refseq.name_2=NM_021106;refseq.name_3=NM_130795;refseq.name_4=NM_144488;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R130Q;refseq.proteinCoordStr_3=p.R528Q;refseq.proteinCoordStr_4=p.R809Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_2=389;refseq.spliceDist_3=389;refseq.spliceDist_4=389;refseq.start_1=115367472;refseq.start_2=115385939;refseq.start_3=115385939;refseq.start_4=115385939;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/0 chr9 115386057 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=338.01;QD=19.88;RankSumP=0.721694;SB=-155.61;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.507G>A;refseq.codingCoordStr_3=c.1701G>A;refseq.codingCoordStr_4=c.2544G>A;refseq.codonCoord_2=169;refseq.codonCoord_3=567;refseq.codonCoord_4=848;refseq.end_1=115396520;refseq.end_2=115386057;refseq.end_3=115386057;refseq.end_4=115386057;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1024;refseq.mrnaCoord_3=1851;refseq.mrnaCoord_4=2753;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name_1=NM_134427;refseq.name_2=NM_021106;refseq.name_3=NM_130795;refseq.name_4=NM_144488;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A169A;refseq.proteinCoordStr_3=p.A567A;refseq.proteinCoordStr_4=p.A848A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_2=-472;refseq.spliceDist_3=-472;refseq.spliceDist_4=-472;refseq.start_1=115367472;refseq.start_2=115386057;refseq.start_3=115386057;refseq.start_4=115386057;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr9 115396194 . G C 246.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=97.75;MQ0=0;OQ=1340.72;QD=20.31;RankSumP=0.618729;SB=-570.26;SecondBestBaseQ=30;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_5=c.174G>C;refseq.codonCoord_5=58;refseq.end_1=115396520;refseq.end_2=115396520;refseq.end_3=115396520;refseq.end_4=115396520;refseq.end_5=115396194;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=174;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name2_5=RGS3;refseq.name_1=NM_134427;refseq.name_2=NM_021106;refseq.name_3=NM_130795;refseq.name_4=NM_144488;refseq.name_5=NM_144489;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.L58L;refseq.referenceAA_5=Leu;refseq.referenceCodon_5=CTG;refseq.spliceDist_5=174;refseq.start_1=115367472;refseq.start_2=115393509;refseq.start_3=115393509;refseq.start_4=115393509;refseq.start_5=115396194;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Leu;refseq.variantCodon_5=CTC;set=Intersection GT 0/1 chr9 115396337 . A G 417.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.48;MQ0=0;OQ=3108.11;QD=38.85;RankSumP=1.00000;SB=-1428.58;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_5=c.317A>G;refseq.codonCoord_5=106;refseq.end_1=115396520;refseq.end_2=115396520;refseq.end_3=115396520;refseq.end_4=115396520;refseq.end_5=115396337;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=317;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name2_5=RGS3;refseq.name_1=NM_134427;refseq.name_2=NM_021106;refseq.name_3=NM_130795;refseq.name_4=NM_144488;refseq.name_5=NM_144489;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.Y106C;refseq.referenceAA_5=Tyr;refseq.referenceCodon_5=TAC;refseq.spliceDist_5=-103;refseq.start_1=115367472;refseq.start_2=115393509;refseq.start_3=115393509;refseq.start_4=115393509;refseq.start_5=115396337;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Cys;refseq.variantCodon_5=TGC;set=Intersection GT 1/1 chr9 115396350 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.61;MQ0=0;OQ=1714.88;QD=19.94;RankSumP=0.309628;SB=-751.10;SecondBestBaseQ=31;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_5=c.330C>G;refseq.codonCoord_5=110;refseq.end_1=115396520;refseq.end_2=115396520;refseq.end_3=115396520;refseq.end_4=115396520;refseq.end_5=115396350;refseq.frame_5=2;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=330;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name2_5=RGS3;refseq.name_1=NM_134427;refseq.name_2=NM_021106;refseq.name_3=NM_130795;refseq.name_4=NM_144488;refseq.name_5=NM_144489;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.C110W;refseq.referenceAA_5=Cys;refseq.referenceCodon_5=TGC;refseq.spliceDist_5=-90;refseq.start_1=115367472;refseq.start_2=115393509;refseq.start_3=115393509;refseq.start_4=115393509;refseq.start_5=115396350;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Trp;refseq.variantCodon_5=TGG;set=Intersection GT 1/0 chr9 115396597 . C T 99.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.89;MQ0=0;OQ=1660.53;QD=14.69;RankSumP=0.359317;SB=-677.25;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1110C>T;refseq.codingCoordStr_2=c.2304C>T;refseq.codingCoordStr_3=c.57C>T;refseq.codingCoordStr_4=c.3147C>T;refseq.codingCoordStr_5=c.486C>T;refseq.codonCoord_1=370;refseq.codonCoord_2=768;refseq.codonCoord_3=19;refseq.codonCoord_4=1049;refseq.codonCoord_5=162;refseq.end_1=115396597;refseq.end_2=115396597;refseq.end_3=115396597;refseq.end_4=115396597;refseq.end_5=115396597;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1627;refseq.mrnaCoord_2=2454;refseq.mrnaCoord_3=347;refseq.mrnaCoord_4=3356;refseq.mrnaCoord_5=486;refseq.name2_1=RGS3;refseq.name2_2=RGS3;refseq.name2_3=RGS3;refseq.name2_4=RGS3;refseq.name2_5=RGS3;refseq.name_1=NM_021106;refseq.name_2=NM_130795;refseq.name_3=NM_134427;refseq.name_4=NM_144488;refseq.name_5=NM_144489;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P370P;refseq.proteinCoordStr_2=p.P768P;refseq.proteinCoordStr_3=p.P19P;refseq.proteinCoordStr_4=p.P1049P;refseq.proteinCoordStr_5=p.P162P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.start_1=115396597;refseq.start_2=115396597;refseq.start_3=115396597;refseq.start_4=115396597;refseq.start_5=115396597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_5=CCT;set=Intersection GT 0/1 chr9 115969921 . G A 236.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.34;MQ=98.64;MQ0=0;OQ=1097.45;QD=19.95;RankSumP=0.489009;SB=-475.53;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.265G>A;refseq.codonCoord=89;refseq.end=115969921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V89I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=132;refseq.start=115969921;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr9 115970015 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.90;MQ=98.46;MQ0=0;OQ=569.35;QD=11.16;RankSumP=0.0663012;SB=-181.58;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.359A>G;refseq.codonCoord=120;refseq.end=115970015;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q120R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=226;refseq.start=115970015;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr9 115970920 . G A 253.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.66;MQ0=0;OQ=2949.09;QD=15.52;RankSumP=0.316967;SB=-1106.04;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1264G>A;refseq.codonCoord=422;refseq.end=115970920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A422T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-645;refseq.start=115970920;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 115971266 . T C 215.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.55;MQ0=0;OQ=868.79;QD=16.09;RankSumP=0.346523;SB=-436.34;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1610T>C;refseq.codonCoord=537;refseq.end=115971266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I537T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-299;refseq.start=115971266;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr9 115971487 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=9.73;MQ=98.38;MQ0=0;OQ=2269.70;QD=13.76;RankSumP=0.190143;SB=-880.10;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1831A>T;refseq.codonCoord=611;refseq.end=115971487;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I611F;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-78;refseq.start=115971487;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr9 115971558 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=2;HaplotypeScore=9.89;MQ=98.76;MQ0=0;OQ=4043.91;QD=20.74;RankSumP=0.0310579;SB=-1296.84;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1902C>T;refseq.codonCoord=634;refseq.end=115971558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1902;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G634G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=115971558;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr9 116042338 . C T 222.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=633.03;QD=37.24;RankSumP=1.00000;SB=-287.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2745C>T;refseq.codonCoord=915;refseq.end=116042338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2745;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I915I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=18;refseq.start=116042338;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr9 116067178 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3306T>G;refseq.codonCoord=1102;refseq.end=116067178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3306;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1102G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=12;refseq.start=116067178;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 116072843 . T C 144.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.90;MQ0=0;OQ=2737.55;QD=13.49;RankSumP=0.474347;SB=-1261.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3570T>C;refseq.codonCoord=1190;refseq.end=116072843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3570;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1190L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=15;refseq.start=116072843;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr9 116084572 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=624.45;QD=16.43;RankSumP=0.750000;SB=-209.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3786T>C;refseq.codonCoord=1262;refseq.end=116084572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3786;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1262Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=15;refseq.start=116084572;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr9 116085857 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3927T>G;refseq.codonCoord=1309;refseq.end=116085857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3927;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1309G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=116085857;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 116090819 . G A 121.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=5.80;MQ=98.95;MQ0=0;OQ=1771.35;QD=12.56;RankSumP=0.486183;SB=-818.18;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4061G>A;refseq.codonCoord=1354;refseq.end=116090819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4061;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1354Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=17;refseq.start=116090819;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr9 116108646 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4964T>G;refseq.codonCoord=1655;refseq.end=116108646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4964;refseq.name=NM_032888;refseq.name2=COL27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1655G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=116108646;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 116125347 . G A 35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=684;Dels=0.00;HRun=0;HaplotypeScore=24.32;MQ=10.45;MQ0=674;OQ=303.53;QD=0.44;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.113G>A;refseq.codonCoord=38;refseq.end=116125347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_000607;refseq.name2=ORM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R38Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=116125347;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr9 116143645 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=132;Dels=0.00;HRun=2;HaplotypeScore=12.28;MQ=98.82;MQ0=0;OQ=107.39;QD=0.81;RankSumP=0.00000;SB=158.54;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4056A>C;refseq.codonCoord=1352;refseq.end=116143645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4218;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1352P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-12;refseq.start=116143645;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 116143794 . A G 247.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.09;MQ=98.46;MQ0=0;OQ=2146.21;QD=36.38;RankSumP=1.00000;SB=-816.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3907T>C;refseq.codonCoord=1303;refseq.end=116143794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4069;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1303P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=33;refseq.start=116143794;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr9 116149867 . C T 19.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=94.10;MQ0=0;OQ=207.72;QD=25.97;RankSumP=1.00000;SB=-54.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3356G>A;refseq.codonCoord=1119;refseq.end=116149867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3518;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1119Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-43;refseq.start=116149867;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr9 116149936 . T G 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.0802642;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3287A>C;refseq.codonCoord=1096;refseq.end=116149936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3449;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1096P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=66;refseq.start=116149936;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr9 116162023 . C T 208.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.36;MQ0=0;OQ=10925.94;QD=40.47;RankSumP=1.00000;SB=-5372.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2265G>A;refseq.codonCoord=755;refseq.end=116162023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2427;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E755E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-27;refseq.start=116162023;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr9 116164552 . G A 420.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.59;MQ0=0;OQ=2763.66;QD=38.92;RankSumP=1.00000;SB=-1119.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1871C>T;refseq.codonCoord=624;refseq.end=116164552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2033;refseq.name=NM_030767;refseq.name2=AKNA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P624L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-46;refseq.start=116164552;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr9 116206027 . G T 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=404;Dels=0.00;HRun=2;HaplotypeScore=8.72;MQ=98.50;MQ0=0;OQ=14643.01;QD=36.25;RankSumP=1.00000;SB=-6984.02;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1239C>A;refseq.codingCoordStr_2=c.2385C>A;refseq.codingCoordStr_3=c.2388C>A;refseq.codonCoord_1=413;refseq.codonCoord_2=795;refseq.codonCoord_3=796;refseq.end_1=116206027;refseq.end_2=116206027;refseq.end_3=116206027;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1879;refseq.mrnaCoord_2=3040;refseq.mrnaCoord_3=3043;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N413K;refseq.proteinCoordStr_2=p.N795K;refseq.proteinCoordStr_3=p.N796K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=116206027;refseq.start_2=116206027;refseq.start_3=116206027;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/1 chr9 116206067 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=38.14;MQ=97.79;MQ0=0;OQ=7236.73;QD=25.85;RankSumP=1.00000;SB=-2628.96;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1199T>C;refseq.codingCoordStr_2=c.2345T>C;refseq.codingCoordStr_3=c.2348T>C;refseq.codonCoord_1=400;refseq.codonCoord_2=782;refseq.codonCoord_3=783;refseq.end_1=116206067;refseq.end_2=116206067;refseq.end_3=116206067;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1839;refseq.mrnaCoord_2=3000;refseq.mrnaCoord_3=3003;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V400A;refseq.proteinCoordStr_2=p.V782A;refseq.proteinCoordStr_3=p.V783A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.spliceDist_3=-71;refseq.start_1=116206067;refseq.start_2=116206067;refseq.start_3=116206067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr9 116206159 . G C 157.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=2467.42;QD=46.56;RankSumP=1.00000;SB=-279.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1107C>G;refseq.codingCoordStr_2=c.2253C>G;refseq.codingCoordStr_3=c.2256C>G;refseq.codonCoord_1=369;refseq.codonCoord_2=751;refseq.codonCoord_3=752;refseq.end_1=116206159;refseq.end_2=116206159;refseq.end_3=116206159;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1747;refseq.mrnaCoord_2=2908;refseq.mrnaCoord_3=2911;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H369Q;refseq.proteinCoordStr_2=p.H751Q;refseq.proteinCoordStr_3=p.H752Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=20;refseq.spliceDist_2=17;refseq.spliceDist_3=20;refseq.start_1=116206159;refseq.start_2=116206159;refseq.start_3=116206159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr9 116208589 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.954C>G;refseq.codingCoordStr_2=c.2103C>G;refseq.codingCoordStr_3=c.2103C>G;refseq.codonCoord_1=318;refseq.codonCoord_2=701;refseq.codonCoord_3=701;refseq.end_1=116208589;refseq.end_2=116208589;refseq.end_3=116208589;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1594;refseq.mrnaCoord_2=2758;refseq.mrnaCoord_3=2758;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G318G;refseq.proteinCoordStr_2=p.G701G;refseq.proteinCoordStr_3=p.G701G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-134;refseq.spliceDist_2=-134;refseq.spliceDist_3=-134;refseq.start_1=116208589;refseq.start_2=116208589;refseq.start_3=116208589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr9 116208854 . A G 282.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.51;MQ0=0;OQ=1446.64;QD=34.44;RankSumP=1.00000;SB=-745.30;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.689T>C;refseq.codingCoordStr_2=c.1838T>C;refseq.codingCoordStr_3=c.1838T>C;refseq.codonCoord_1=230;refseq.codonCoord_2=613;refseq.codonCoord_3=613;refseq.end_1=116208854;refseq.end_2=116208854;refseq.end_3=116208854;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1329;refseq.mrnaCoord_2=2493;refseq.mrnaCoord_3=2493;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M230T;refseq.proteinCoordStr_2=p.M613T;refseq.proteinCoordStr_3=p.M613T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=140;refseq.spliceDist_2=140;refseq.spliceDist_3=140;refseq.start_1=116208854;refseq.start_2=116208854;refseq.start_3=116208854;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr9 116210062 . G C 342.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=1835.85;QD=43.71;RankSumP=1.00000;SB=-941.33;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.535C>G;refseq.codingCoordStr_2=c.1684C>G;refseq.codingCoordStr_3=c.1684C>G;refseq.codonCoord_1=179;refseq.codonCoord_2=562;refseq.codonCoord_3=562;refseq.end_1=116210062;refseq.end_2=116210062;refseq.end_3=116210062;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1175;refseq.mrnaCoord_2=2339;refseq.mrnaCoord_3=2339;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P179A;refseq.proteinCoordStr_2=p.P562A;refseq.proteinCoordStr_3=p.P562A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=116210062;refseq.start_2=116210062;refseq.start_3=116210062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr9 116226498 . A G 323.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=97.05;MQ0=0;OQ=4945.15;QD=35.07;RankSumP=1.00000;SB=-1550.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.204T>C;refseq.codingCoordStr_2=c.1353T>C;refseq.codingCoordStr_3=c.1353T>C;refseq.codonCoord_1=68;refseq.codonCoord_2=451;refseq.codonCoord_3=451;refseq.end_1=116226498;refseq.end_2=116226498;refseq.end_3=116226498;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=844;refseq.mrnaCoord_2=2008;refseq.mrnaCoord_3=2008;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G68G;refseq.proteinCoordStr_2=p.G451G;refseq.proteinCoordStr_3=p.G451G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=116226498;refseq.start_2=116226498;refseq.start_3=116226498;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr9 116226533 . C T 252.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=98.33;MQ0=0;OQ=2759.77;QD=34.07;RankSumP=1.00000;SB=-401.53;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.169G>A;refseq.codingCoordStr_2=c.1318G>A;refseq.codingCoordStr_3=c.1318G>A;refseq.codonCoord_1=57;refseq.codonCoord_2=440;refseq.codonCoord_3=440;refseq.end_1=116226533;refseq.end_2=116226533;refseq.end_3=116226533;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=809;refseq.mrnaCoord_2=1973;refseq.mrnaCoord_3=1973;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A57T;refseq.proteinCoordStr_2=p.A440T;refseq.proteinCoordStr_3=p.A440T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.spliceDist_3=-99;refseq.start_1=116226533;refseq.start_2=116226533;refseq.start_3=116226533;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr9 116228387 . C T 371.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.59;MQ0=0;OQ=4753.27;QD=37.72;RankSumP=1.00000;SB=-1403.04;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.-59G>A;refseq.codingCoordStr_2=c.1091G>A;refseq.codingCoordStr_3=c.1091G>A;refseq.codonCoord_2=364;refseq.codonCoord_3=364;refseq.end_1=116228387;refseq.end_2=116228387;refseq.end_3=116228387;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=582;refseq.mrnaCoord_2=1746;refseq.mrnaCoord_3=1746;refseq.name2_1=DFNB31;refseq.name2_2=DFNB31;refseq.name2_3=DFNB31;refseq.name_1=NM_001083885;refseq.name_2=NM_001173425;refseq.name_3=NM_015404;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R364H;refseq.proteinCoordStr_3=p.R364H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=116228387;refseq.start_2=116228387;refseq.start_3=116228387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.uorfChange_1=+1;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr9 116592706 . T C 109.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.74;MQ0=0;OQ=1532.53;QD=12.56;RankSumP=0.175178;SB=-775.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=116592706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_005118;refseq.name2=TNFSF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V201V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=302;refseq.start=116592706;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr9 116732278 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=76;Dels=0.00;HRun=2;HaplotypeScore=8.17;MQ=96.06;MQ0=0;OQ=69.68;QD=0.92;RankSumP=4.55137e-08;SB=113.38;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.127A>C;refseq.codonCoord=43;refseq.end=116732278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_001244;refseq.name2=TNFSF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T43P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-69;refseq.start=116732278;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr9 116832404 . C G 297.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=98.82;MQ0=0;OQ=2397.32;QD=19.81;RankSumP=0.385349;SB=-864.19;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.6022G>C;refseq.codonCoord=2008;refseq.end=116832404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6384;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2008Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-51;refseq.start=116832404;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr9 116837418 . T C 268.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=5.78;MQ=98.87;MQ0=0;OQ=7130.85;QD=19.86;RankSumP=0.147109;SB=-1630.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.5673A>G;refseq.codonCoord=1891;refseq.end=116837418;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6035;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1891R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=17;refseq.start=116837418;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr9 116844365 . T C 126.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=12.22;MQ=98.71;MQ0=0;OQ=5280.06;QD=17.14;RankSumP=0.238513;SB=-1577.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.5202A>G;refseq.codonCoord=1734;refseq.end=116844365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5564;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1734T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-47;refseq.start=116844365;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 116865977 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3679G>C;refseq.codonCoord=1227;refseq.end=116865977;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4041;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1227P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-82;refseq.start=116865977;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr9 116878517 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=365;Dels=0.00;HRun=2;HaplotypeScore=31.25;MQ=97.81;MQ0=0;OQ=290.63;QD=0.80;RankSumP=0.00000;SB=507.69;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2833C>A;refseq.codonCoord=945;refseq.end=116878517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3195;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q945K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-28;refseq.start=116878517;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr9 116886391 . C T 217.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=8.36;MQ=98.71;MQ0=0;OQ=3074.69;QD=17.47;RankSumP=0.0941311;SB=-1343.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2049G>A;refseq.codonCoord=683;refseq.end=116886391;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2411;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E683E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-83;refseq.start=116886391;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 116886401 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=98.78;MQ0=0;OQ=2924.84;QD=15.48;RankSumP=0.249053;SB=-1113.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2039A>G;refseq.codonCoord=680;refseq.end=116886401;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2401;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q680R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-93;refseq.start=116886401;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr9 116888215 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=180;Dels=0.00;HRun=3;HaplotypeScore=1.78;MQ=98.71;MQ0=0;OQ=6829.30;QD=37.94;RankSumP=1.00000;SB=-2526.19;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1616A>G;refseq.codonCoord=539;refseq.end=116888215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1978;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q539R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-252;refseq.start=116888215;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr9 116888991 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=634;Dels=0.00;HRun=2;HaplotypeScore=238.18;MQ=98.26;MQ0=0;OQ=529.53;QD=0.84;RankSumP=0.00000;SB=1070.54;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.840C>A;refseq.codonCoord=280;refseq.end=116888991;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.N280K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=383;refseq.start=116888991;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr9 116889135 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=27.96;MQ=98.57;MQ0=0;OQ=6067.04;QD=18.55;RankSumP=0.129026;SB=-2383.09;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.696A>G;refseq.codonCoord=232;refseq.end=116889135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V232V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=239;refseq.start=116889135;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr9 116892843 . C T 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.52;MQ0=0;OQ=324.62;QD=9.02;RankSumP=0.232820;SB=-176.61;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.276G>A;refseq.codonCoord=92;refseq.end=116892843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V92V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-182;refseq.start=116892843;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr9 116892924 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=1054.60;QD=11.22;RankSumP=0.0985739;SB=-489.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.195G>A;refseq.codonCoord=65;refseq.end=116892924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_002160;refseq.name2=TNC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S65S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-263;refseq.start=116892924;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr9 117203384 . C T 309.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=3.72;MQ=98.90;MQ0=0;OQ=6912.35;QD=21.01;RankSumP=0.233842;SB=-2726.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.179C>T;refseq.codonCoord=60;refseq.end=117203384;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_017418;refseq.name2=DEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A60V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-27;refseq.start=117203384;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr9 117989819 . C T 320.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.62;MQ0=0;OQ=4524.14;QD=18.39;RankSumP=0.416894;SB=-1283.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.981C>T;refseq.codonCoord=327;refseq.end=117989819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_002581;refseq.name2=PAPPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.C327C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-498;refseq.start=117989819;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr9 118146702 . C A 251.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=9.76;MQ=98.77;MQ0=0;OQ=14513.10;QD=35.40;RankSumP=1.00000;SB=-4798.63;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3671C>A;refseq.codonCoord=1224;refseq.end=118146702;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4052;refseq.name=NM_002581;refseq.name2=PAPPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1224Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=60;refseq.start=118146702;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr9 118198635 . T C 147.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=98.83;MQ0=0;OQ=1651.75;QD=15.02;RankSumP=0.339590;SB=-534.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4803T>C;refseq.codonCoord=1601;refseq.end=118198635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5184;refseq.name=NM_002581;refseq.name2=PAPPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1601D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=27;refseq.start=118198635;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr9 118535518 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.44;MQ0=0;OQ=1853.27;QD=31.41;RankSumP=1.00000;SB=-772.00;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.2349A>G;refseq.codingCoordStr_2=c.2490A>G;refseq.codingCoordStr_3=c.2502A>G;refseq.codonCoord_1=783;refseq.codonCoord_2=830;refseq.codonCoord_3=834;refseq.end_1=118535518;refseq.end_2=118535518;refseq.end_3=118535518;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2450;refseq.mrnaCoord_2=2591;refseq.mrnaCoord_3=2603;refseq.name2_1=ASTN2;refseq.name2_2=ASTN2;refseq.name2_3=ASTN2;refseq.name_1=NM_014010;refseq.name_2=NM_198186;refseq.name_3=NM_198187;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P783P;refseq.proteinCoordStr_2=p.P830P;refseq.proteinCoordStr_3=p.P834P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=118535518;refseq.start_2=118535518;refseq.start_3=118535518;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr9 118665702 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1868T>G;refseq.codingCoordStr_2=c.2009T>G;refseq.codingCoordStr_3=c.2021T>G;refseq.codonCoord_1=623;refseq.codonCoord_2=670;refseq.codonCoord_3=674;refseq.end_1=118665702;refseq.end_2=118665702;refseq.end_3=118665702;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1969;refseq.mrnaCoord_2=2110;refseq.mrnaCoord_3=2122;refseq.name2_1=ASTN2;refseq.name2_2=ASTN2;refseq.name2_3=ASTN2;refseq.name_1=NM_014010;refseq.name_2=NM_198186;refseq.name_3=NM_198187;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V623G;refseq.proteinCoordStr_2=p.V670G;refseq.proteinCoordStr_3=p.V674G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=118665702;refseq.start_2=118665702;refseq.start_3=118665702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr9 118810301 . C T 310.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.77;MQ0=0;OQ=5335.93;QD=17.79;RankSumP=0.308937;SB=-2064.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1329G>A;refseq.codingCoordStr_2=c.1482G>A;refseq.codingCoordStr_3=c.1482G>A;refseq.codonCoord_1=443;refseq.codonCoord_2=494;refseq.codonCoord_3=494;refseq.end_1=118810301;refseq.end_2=118810301;refseq.end_3=118810301;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1430;refseq.mrnaCoord_2=1583;refseq.mrnaCoord_3=1583;refseq.name2_1=ASTN2;refseq.name2_2=ASTN2;refseq.name2_3=ASTN2;refseq.name_1=NM_014010;refseq.name_2=NM_198186;refseq.name_3=NM_198187;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P443P;refseq.proteinCoordStr_2=p.P494P;refseq.proteinCoordStr_3=p.P494P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=118810301;refseq.start_2=118810301;refseq.start_3=118810301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr9 119093597 . T C 306.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=4987.51;QD=37.22;RankSumP=1.00000;SB=-2283.25;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.459A>G;refseq.codingCoordStr_2=c.459A>G;refseq.codingCoordStr_3=c.459A>G;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.codonCoord_3=153;refseq.end_1=119093597;refseq.end_2=119093597;refseq.end_3=119093597;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=560;refseq.mrnaCoord_2=560;refseq.mrnaCoord_3=560;refseq.name2_1=ASTN2;refseq.name2_2=ASTN2;refseq.name2_3=ASTN2;refseq.name_1=NM_014010;refseq.name_2=NM_198186;refseq.name_3=NM_198187;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A153A;refseq.proteinCoordStr_2=p.A153A;refseq.proteinCoordStr_3=p.A153A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=119093597;refseq.start_2=119093597;refseq.start_3=119093597;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr9 120969688 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1781A>C;refseq.codonCoord=594;refseq.end=120969688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2237;refseq.name=NM_014618;refseq.name2=DBC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N594T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=636;refseq.start=120969688;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 121040821 . G A 251.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=6.95;MQ=98.73;MQ0=0;OQ=5987.39;QD=19.25;RankSumP=0.0516830;SB=-2155.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.618C>T;refseq.codonCoord=206;refseq.end=121040821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_014618;refseq.name2=DBC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S206S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=39;refseq.start=121040821;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr9 122210554 . C G 105.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=9.92;MQ=98.94;MQ0=0;OQ=7463.14;QD=46.35;RankSumP=1.00000;SB=-3599.12;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.4618G>C;refseq.codingCoordStr_2=c.4618G>C;refseq.codonCoord_1=1540;refseq.codonCoord_2=1540;refseq.end_1=122210554;refseq.end_2=122210554;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4799;refseq.mrnaCoord_2=4799;refseq.name2_1=CDK5RAP2;refseq.name2_2=CDK5RAP2;refseq.name_1=NM_001011649;refseq.name_2=NM_018249;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1540L;refseq.proteinCoordStr_2=p.V1540L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=122210554;refseq.start_2=122210554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr9 122330857 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=10244.91;QD=51.22;RankSumP=1.00000;SB=-3337.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.865G>C;refseq.codingCoordStr_2=c.865G>C;refseq.codonCoord_1=289;refseq.codonCoord_2=289;refseq.end_1=122330857;refseq.end_2=122330857;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1046;refseq.mrnaCoord_2=1046;refseq.name2_1=CDK5RAP2;refseq.name2_2=CDK5RAP2;refseq.name_1=NM_001011649;refseq.name_2=NM_018249;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E289Q;refseq.proteinCoordStr_2=p.E289Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=122330857;refseq.start_2=122330857;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr9 122623013 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=2;HaplotypeScore=12.94;MQ=98.80;MQ0=0;OQ=6335.99;QD=21.62;RankSumP=0.123176;SB=-2556.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1182T>C;refseq.codonCoord=394;refseq.end=122623013;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_005047;refseq.name2=PSMD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D394D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=66;refseq.start=122623013;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr9 122662211 . T G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=3.02406e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1378A>C;refseq.codonCoord=460;refseq.end=122662211;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_015651;refseq.name2=PHF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T460P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-23;refseq.start=122662211;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 122671866 . A G 247.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.63;MQ0=0;OQ=1646.97;QD=37.43;RankSumP=1.00000;SB=-525.88;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.543T>C;refseq.codonCoord_2=181;refseq.end_1=122671933;refseq.end_2=122671866;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=796;refseq.name2_1=PHF19;refseq.name2_2=PHF19;refseq.name_1=NM_015651;refseq.name_2=NM_001009936;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S181S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=179;refseq.start_1=122671440;refseq.start_2=122671866;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr9 122672002 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=1.90144e-05;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.407A>C;refseq.codingCoordStr_2=c.407A>C;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=122672002;refseq.end_2=122672002;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=660;refseq.name2_1=PHF19;refseq.name2_2=PHF19;refseq.name_1=NM_001009936;refseq.name_2=NM_015651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D136A;refseq.proteinCoordStr_2=p.D136A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=122672002;refseq.start_2=122672002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr9 122809021 . C T 271.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.98;MQ0=0;OQ=6655.52;QD=19.07;RankSumP=0.415945;SB=-2149.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2404G>A;refseq.codonCoord=802;refseq.end=122809021;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2434;refseq.name=NM_001735;refseq.name2=C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V802I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-19;refseq.start=122809021;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr9 122819826 . G A 271.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=16.85;MQ=99.00;MQ0=0;OQ=5794.98;QD=18.69;RankSumP=0.451147;SB=-2412.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1632C>T;refseq.codonCoord=544;refseq.end=122819826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_001735;refseq.name2=C5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y544Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-85;refseq.start=122819826;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr9 122890591 . G A 129.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=2;HaplotypeScore=4.01;MQ=98.73;MQ0=0;OQ=5457.17;QD=21.07;RankSumP=0.377696;SB=-1487.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.166G>A;refseq.codonCoord=56;refseq.end=122890591;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_007018;refseq.name2=CEP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.V56I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-52;refseq.start=122890591;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr9 122900510 . C T 335.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=98.66;MQ0=0;OQ=4119.52;QD=17.38;RankSumP=0.454310;SB=-1197.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.647C>T;refseq.codonCoord=216;refseq.end=122900510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_007018;refseq.name2=CEP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.P216L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=26;refseq.start=122900510;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr9 122926098 . A G 188.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.94;MQ0=0;OQ=7125.80;QD=22.69;RankSumP=0.184204;SB=-1902.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1719A>G;refseq.codonCoord=573;refseq.end=122926098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1750;refseq.name=NM_007018;refseq.name2=CEP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q573Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=69;refseq.start=122926098;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr9 122948332 . A G 240.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.81;MQ0=0;OQ=6075.06;QD=20.32;RankSumP=0.345231;SB=-2422.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3436A>G;refseq.codonCoord=1146;refseq.end=122948332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3467;refseq.name=NM_007018;refseq.name2=CEP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1146V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-24;refseq.start=122948332;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr9 122956841 . T A 248.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=98.54;MQ0=0;OQ=1458.52;QD=16.96;RankSumP=0.311853;SB=-447.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4194T>A;refseq.codonCoord=1398;refseq.end=122956841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4225;refseq.name=NM_007018;refseq.name2=CEP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1398V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=22;refseq.start=122956841;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr9 123120866 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=4.04314e-07;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.chr_8=chr9;refseq.codingCoordStr_1=c.1231T>C;refseq.codingCoordStr_2=c.1078T>C;refseq.codingCoordStr_3=c.1078T>C;refseq.codingCoordStr_4=c.1078T>C;refseq.codingCoordStr_5=c.1078T>C;refseq.codingCoordStr_6=c.1111T>C;refseq.codingCoordStr_7=c.1111T>C;refseq.codingCoordStr_8=c.1078T>C;refseq.codonCoord_1=411;refseq.codonCoord_2=360;refseq.codonCoord_3=360;refseq.codonCoord_4=360;refseq.codonCoord_5=360;refseq.codonCoord_6=371;refseq.codonCoord_7=371;refseq.codonCoord_8=360;refseq.end_1=123120866;refseq.end_2=123120866;refseq.end_3=123120866;refseq.end_4=123120866;refseq.end_5=123120866;refseq.end_6=123120866;refseq.end_7=123120866;refseq.end_8=123120866;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=1205;refseq.mrnaCoord_3=1410;refseq.mrnaCoord_4=1377;refseq.mrnaCoord_5=1372;refseq.mrnaCoord_6=1369;refseq.mrnaCoord_7=1360;refseq.mrnaCoord_8=1298;refseq.name2_1=GSN;refseq.name2_2=GSN;refseq.name2_3=GSN;refseq.name2_4=GSN;refseq.name2_5=GSN;refseq.name2_6=GSN;refseq.name2_7=GSN;refseq.name2_8=GSN;refseq.name_1=NM_000177;refseq.name_2=NM_001127662;refseq.name_3=NM_001127663;refseq.name_4=NM_001127664;refseq.name_5=NM_001127665;refseq.name_6=NM_001127666;refseq.name_7=NM_001127667;refseq.name_8=NM_198252;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S411P;refseq.proteinCoordStr_2=p.S360P;refseq.proteinCoordStr_3=p.S360P;refseq.proteinCoordStr_4=p.S360P;refseq.proteinCoordStr_5=p.S360P;refseq.proteinCoordStr_6=p.S371P;refseq.proteinCoordStr_7=p.S371P;refseq.proteinCoordStr_8=p.S360P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.referenceCodon_7=TCC;refseq.referenceCodon_8=TCC;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.spliceDist_3=103;refseq.spliceDist_4=103;refseq.spliceDist_5=103;refseq.spliceDist_6=103;refseq.spliceDist_7=103;refseq.spliceDist_8=103;refseq.start_1=123120866;refseq.start_2=123120866;refseq.start_3=123120866;refseq.start_4=123120866;refseq.start_5=123120866;refseq.start_6=123120866;refseq.start_7=123120866;refseq.start_8=123120866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;set=FilteredInAll GT 1/0 chr9 123895032 . C T 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.03;MQ0=0;OQ=550.29;QD=22.93;RankSumP=0.212166;SB=-108.60;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.487G>A;refseq.codingCoordStr_2=c.487G>A;refseq.codonCoord_1=163;refseq.codonCoord_2=163;refseq.end_1=123895032;refseq.end_2=123895032;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=675;refseq.mrnaCoord_2=675;refseq.name2_1=TTLL11;refseq.name2_2=TTLL11;refseq.name_1=NM_001139442;refseq.name_2=NM_194252;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A163T;refseq.proteinCoordStr_2=p.A163T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-246;refseq.spliceDist_2=-246;refseq.start_1=123895032;refseq.start_2=123895032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr9 123954434 . C T 218.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=5.57;MQ=98.99;MQ0=0;OQ=2080.65;QD=15.41;RankSumP=0.369538;SB=-1035.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.126G>A;refseq.codonCoord=42;refseq.end=123954434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_014222;refseq.name2=NDUFA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E42E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=75;refseq.start=123954434;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 124173300 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=8.71;MQ=97.24;MQ0=0;OQ=1908.13;QD=10.48;RankSumP=0.475536;SB=-111.58;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.22T>C;refseq.codingCoordStr_2=c.22T>C;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=124173300;refseq.end_2=124173300;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=157;refseq.mrnaCoord_2=157;refseq.name2_1=PTGS1;refseq.name2_2=PTGS1;refseq.name_1=NM_000962;refseq.name_2=NM_080591;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W8R;refseq.proteinCoordStr_2=p.W8R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=124173300;refseq.start_2=124173300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr9 124183613 . C A 130 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=311;Dels=0.00;HRun=2;HaplotypeScore=7.37;MQ=98.52;MQ0=0;OQ=4980.19;QD=16.01;RankSumP=0.301207;SB=-1817.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.639C>A;refseq.codingCoordStr_2=c.639C>A;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.end_1=124183613;refseq.end_2=124183613;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=774;refseq.mrnaCoord_2=774;refseq.name2_1=PTGS1;refseq.name2_2=PTGS1;refseq.name_1=NM_000962;refseq.name_2=NM_080591;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G213G;refseq.proteinCoordStr_2=p.G213G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=124183613;refseq.start_2=124183613;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr9 124279074 . T C 225.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.73;MQ0=0;OQ=3299.21;QD=37.92;RankSumP=1.00000;SB=-172.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.953A>G;refseq.codonCoord=318;refseq.end=124279074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_001004451;refseq.name2=OR1J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N318S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-17;refseq.start=124279074;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr9 124279322 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=3;HaplotypeScore=6.83;MQ=98.97;MQ0=0;OQ=6666.97;QD=19.10;RankSumP=0.168973;SB=-2065.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.705C>A;refseq.codonCoord=235;refseq.end=124279322;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_001004451;refseq.name2=OR1J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C235*;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-265;refseq.start=124279322;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 0/1 chr9 124313561 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=4.06090e-07;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.660C>A;refseq.codonCoord=220;refseq.end=124313561;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_054107;refseq.name2=OR1J2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y220*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-283;refseq.start=124313561;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr9 124416908 . A G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=608;Dels=0.00;HRun=0;HaplotypeScore=15.14;MQ=98.71;MQ0=0;OQ=21313.33;QD=35.05;RankSumP=1.00000;SB=-8897.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.71A>G;refseq.codonCoord=24;refseq.end=124416908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=71;refseq.name=NM_012364;refseq.name2=OR1Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q24R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=71;refseq.start=124416908;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr9 124417326 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=659;Dels=0.00;HRun=2;HaplotypeScore=2.30;MQ=98.70;MQ0=0;OQ=27635.37;QD=41.94;RankSumP=1.00000;SB=-13086.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.489A>G;refseq.codonCoord=163;refseq.end=124417326;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_012364;refseq.name2=OR1Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I163M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-457;refseq.start=124417326;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr9 124430695 . A C 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=3;HaplotypeScore=3.32;MQ=98.83;MQ0=0;OQ=11240.85;QD=40.88;RankSumP=1.00000;SB=-5340.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.941T>G;refseq.codonCoord=314;refseq.end=124430695;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V314G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-17;refseq.start=124430695;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 124430847 . A C 191.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=9.16;MQ=99.00;MQ0=0;OQ=5136.83;QD=38.62;RankSumP=1.00000;SB=-2296.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.789T>G;refseq.codonCoord=263;refseq.end=124430847;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C263W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-169;refseq.start=124430847;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr9 124430948 . C T 223.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.67;MQ0=0;OQ=2712.82;QD=16.34;RankSumP=0.0536900;SB=-628.66;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.688G>A;refseq.codonCoord=230;refseq.end=124430948;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A230T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-270;refseq.start=124430948;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr9 124431062 . G A 244.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=98.51;MQ0=0;OQ=1546.56;QD=18.86;RankSumP=0.375589;SB=-396.91;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.574C>T;refseq.codonCoord=192;refseq.end=124431062;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R192*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-384;refseq.start=124431062;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chr9 124431190 . A G 265.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=7.53;MQ=98.90;MQ0=0;OQ=10194.46;QD=35.52;RankSumP=1.00000;SB=-3720.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.446T>C;refseq.codonCoord=149;refseq.end=124431190;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L149S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=446;refseq.start=124431190;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr9 124431230 . A G 299.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.86;MQ0=0;OQ=6016.95;QD=18.86;RankSumP=0.141393;SB=-2479.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.406T>C;refseq.codonCoord=136;refseq.end=124431230;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L136L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=406;refseq.start=124431230;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr9 124431498 . T C 256.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=5.07;MQ=98.18;MQ0=0;OQ=5380.60;QD=18.62;RankSumP=0.326001;SB=-2133.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.138A>G;refseq.codonCoord=46;refseq.end=124431498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=138;refseq.start=124431498;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 124431591 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=7;RankSumP=0.117444;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.45G>T;refseq.codonCoord=15;refseq.end=124431591;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=45;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L15F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=45;refseq.start=124431591;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr9 124431599 . C A 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=7;RankSumP=0.0800670;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.37G>T;refseq.codonCoord=13;refseq.end=124431599;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=37;refseq.name=NM_001004450;refseq.name2=OR1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V13F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=37;refseq.start=124431599;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr9 124477372 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.143C>T;refseq.codonCoord=48;refseq.end=124477372;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=143;refseq.name=NM_001005234;refseq.name2=OR1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=143;refseq.start=124477372;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr9 124526538 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.432543;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.449G>A;refseq.codonCoord=150;refseq.end=124526538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_001005235;refseq.name2=OR1L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C150Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=449;refseq.start=124526538;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 1/0 chr9 124526789 . G A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1057;Dels=0.00;HRun=0;HaplotypeScore=32.70;MQ=84.91;MQ0=39;OQ=41863.14;QD=39.61;RankSumP=1.00000;SB=-13675.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.700G>A;refseq.codonCoord=234;refseq.end=124526789;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_001005235;refseq.name2=OR1L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G234R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-237;refseq.start=124526789;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr9 124526832 . T C 58 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00734474;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.743T>C;refseq.codonCoord=248;refseq.end=124526832;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_001005235;refseq.name2=OR1L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V248A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-194;refseq.start=124526832;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr9 124552014 . C A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=608;Dels=0.00;HRun=1;HaplotypeScore=21.07;MQ=57.63;MQ0=213;OQ=14127.58;QD=23.24;RankSumP=1.00000;SB=-5019.66;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 124552321 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;set=FilteredInAll GT 1/0 chr9 124552396 . G A 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1019;Dels=0.00;HRun=0;HaplotypeScore=14.31;MQ=29.78;MQ0=469;OQ=21697.90;QD=21.29;RankSumP=1.00000;SB=-10566.51;SecondBestBaseQ=2;set=Intersection GT 1/1 chr9 124552591 . T C 58.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=82.72;MQ0=14;OQ=3739.94;QD=33.69;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 124552609 . G A 31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=123;Dels=0.00;HRun=2;HaplotypeScore=5.02;MQ=86.43;MQ0=7;OQ=4603.55;QD=37.43;RankSumP=1.00000;SB=-416.55;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 124552616 . G C 281.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=87.01;MQ0=8;OQ=5293.74;QD=41.36;RankSumP=1.00000;SB=-799.56;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 124552647 . G A 313.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=86.52;MQ0=18;OQ=9208.53;QD=37.59;RankSumP=1.00000;SB=-3044.81;SecondBestBaseQ=2;set=Intersection GT 1/1 chr9 124591704 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.672C>T;refseq.codonCoord=224;refseq.end=124591704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_001001923;refseq.name2=OR5C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F224F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-292;refseq.start=124591704;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr9 124602767 . A C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.00723565;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.545A>C;refseq.codonCoord=182;refseq.end=124602767;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_080859;refseq.name2=OR1K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H182P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-407;refseq.start=124602767;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 124812561 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1482T>C;refseq.codonCoord=494;refseq.end=124812561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1616;refseq.name=NM_012197;refseq.name2=RABGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V494V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-68;refseq.start=124812561;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr9 124812563 . G C 41.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=148;Dels=0.00;HRun=2;HaplotypeScore=5.92;MQ=96.89;MQ0=0;QD=0.28;RankSumP=0.00000;SB=272.95;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1484G>C;refseq.codonCoord=495;refseq.end=124812563;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_012197;refseq.name2=RABGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R495P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-66;refseq.start=124812563;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 124837314 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=551;Dels=0.00;HRun=0;HaplotypeScore=17.15;MQ=98.89;MQ0=0;OQ=10565.82;QD=19.18;RankSumP=0.00473371;SB=-3893.80;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.648C>T;refseq.codonCoord_2=216;refseq.end_1=124867437;refseq.end_2=124837314;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=648;refseq.name2_1=RABGAP1;refseq.name2_2=GPR21;refseq.name_1=NM_012197;refseq.name_2=NM_005294;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R216R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-403;refseq.start_1=124822570;refseq.start_2=124837314;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=filterInsoap-gatk GT 0/1 chr9 124960197 . G A 458.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.43;MQ0=0;OQ=5154.40;QD=40.59;RankSumP=1.00000;SB=-1776.76;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_2=c.918C>T;refseq.codingCoordStr_3=c.960C>T;refseq.codonCoord_2=306;refseq.codonCoord_3=320;refseq.end_1=124960197;refseq.end_2=124960197;refseq.end_3=124960197;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1315;refseq.mrnaCoord_2=1373;refseq.mrnaCoord_3=1390;refseq.name2_1=STRBP;refseq.name2_2=STRBP;refseq.name2_3=STRBP;refseq.name_1=NR_033234;refseq.name_2=NM_001171137;refseq.name_3=NM_018387;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G306G;refseq.proteinCoordStr_3=p.G320G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=124960197;refseq.start_2=124960197;refseq.start_3=124960197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chr9 125158413 . T C 32.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=4;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=94.61;MQ0=0;QD=8.20;RankSumP=0.600000;SB=-38.95;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.53T>C;refseq.codonCoord=18;refseq.end=125158413;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L18P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-42;refseq.start=125158413;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/0 chr9 125165139 . C A 153.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.56;MQ0=0;OQ=1798.48;QD=33.93;RankSumP=1.00000;SB=-878.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.269C>A;refseq.codonCoord=90;refseq.end=125165139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T90N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-150;refseq.start=125165139;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr9 125165234 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.364A>C;refseq.codonCoord=122;refseq.end=125165234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T122P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=125165234;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 125168032 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=13.76;MQ=97.74;MQ0=0;OQ=1817.23;QD=11.08;RankSumP=0.223469;SB=-490.91;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.434T>C;refseq.codonCoord=145;refseq.end=125168032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M145T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=16;refseq.start=125168032;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr9 125168074 . G C 207.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=3.21;MQ=97.82;MQ0=0;OQ=2174.80;QD=16.99;RankSumP=0.414834;SB=-830.99;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.476G>C;refseq.codonCoord=159;refseq.end=125168074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G159A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=58;refseq.start=125168074;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr9 125169725 . C T 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.38;MQ0=0;OQ=290.90;QD=10.39;RankSumP=0.410226;SB=-128.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.993C>T;refseq.codonCoord=331;refseq.end=125169725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N331N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=53;refseq.start=125169725;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr9 125172740 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=793.92;QD=14.98;RankSumP=0.299453;SB=-352.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1587G>A;refseq.codonCoord=529;refseq.end=125172740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1679;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A529A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-341;refseq.start=125172740;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr9 125173318 . C T 129.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.79;MQ0=0;OQ=2249.55;QD=14.33;RankSumP=0.314748;SB=-909.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2076C>T;refseq.codonCoord=692;refseq.end=125173318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2168;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S692S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=149;refseq.start=125173318;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr9 125173368 . T C 283.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.54;MQ0=0;OQ=3690.08;QD=36.18;RankSumP=1.00000;SB=-1516.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2126T>C;refseq.codonCoord=709;refseq.end=125173368;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V709A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=199;refseq.start=125173368;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 125174363 . G A 189.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.64;MQ0=0;OQ=13258.08;QD=36.52;RankSumP=1.00000;SB=-4557.47;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2523G>A;refseq.codonCoord=841;refseq.end=125174363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2615;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T841T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-80;refseq.start=125174363;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr9 125175536 . A G 62.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.50;MQ0=0;OQ=68.72;QD=13.74;RankSumP=1.00000;SB=-46.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2905A>G;refseq.codonCoord=969;refseq.end=125175536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2997;refseq.name=NM_173689;refseq.name2=CRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T969A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=303;refseq.start=125175536;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr9 125184567 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.76;MQ0=0;OQ=1478.56;QD=34.39;RankSumP=1.00000;SB=-392.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1995A>G;refseq.codonCoord=665;refseq.end=125184567;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2228;refseq.name=NM_020946;refseq.name2=DENND1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G665G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=159;refseq.start=125184567;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 125184579 . T C 107.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.85;MQ=98.80;MQ0=0;OQ=1792.45;QD=35.15;RankSumP=1.00000;SB=-298.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1983A>G;refseq.codonCoord=661;refseq.end=125184579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2216;refseq.name=NM_020946;refseq.name2=DENND1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S661S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=147;refseq.start=125184579;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr9 125186010 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.99031e-06;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1581G>C;refseq.codonCoord=527;refseq.end=125186010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1814;refseq.name=NM_020946;refseq.name2=DENND1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P527P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=125186010;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 125823241 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.770A>C;refseq.codonCoord=257;refseq.end=125823241;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1509;refseq.name=NM_004789;refseq.name2=LHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D257A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=43;refseq.start=125823241;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr9 125823254 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=356;Dels=0.00;HRun=3;HaplotypeScore=3.78;MQ=97.60;MQ0=0;OQ=16073.50;QD=45.15;RankSumP=1.00000;SB=-7349.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.783G>C;refseq.codonCoord=261;refseq.end=125823254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_004789;refseq.name2=LHX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P261P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=56;refseq.start=125823254;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 126141745 . C T 245.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=97.62;MQ0=0;OQ=3900.57;QD=35.46;RankSumP=1.00000;SB=-1065.92;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.chr_7=chr9;refseq.codingCoordStr_1=c.799C>T;refseq.codingCoordStr_2=c.751C>T;refseq.codingCoordStr_3=c.697C>T;refseq.codingCoordStr_4=c.772C>T;refseq.codingCoordStr_5=c.697C>T;refseq.codingCoordStr_6=c.799C>T;refseq.codingCoordStr_7=c.697C>T;refseq.codonCoord_1=267;refseq.codonCoord_2=251;refseq.codonCoord_3=233;refseq.codonCoord_4=258;refseq.codonCoord_5=233;refseq.codonCoord_6=267;refseq.codonCoord_7=233;refseq.end_1=126141745;refseq.end_2=126141745;refseq.end_3=126141745;refseq.end_4=126141745;refseq.end_5=126141745;refseq.end_6=126141745;refseq.end_7=126141745;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=842;refseq.mrnaCoord_3=837;refseq.mrnaCoord_4=846;refseq.mrnaCoord_5=844;refseq.mrnaCoord_6=1009;refseq.mrnaCoord_7=895;refseq.name2_1=NEK6;refseq.name2_2=NEK6;refseq.name2_3=NEK6;refseq.name2_4=NEK6;refseq.name2_5=NEK6;refseq.name2_6=NEK6;refseq.name2_7=NEK6;refseq.name_1=NM_001145001;refseq.name_2=NM_001166167;refseq.name_3=NM_001166168;refseq.name_4=NM_001166169;refseq.name_5=NM_001166170;refseq.name_6=NM_001166171;refseq.name_7=NM_014397;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L267L;refseq.proteinCoordStr_2=p.L251L;refseq.proteinCoordStr_3=p.L233L;refseq.proteinCoordStr_4=p.L258L;refseq.proteinCoordStr_5=p.L233L;refseq.proteinCoordStr_6=p.L267L;refseq.proteinCoordStr_7=p.L233L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.referenceCodon_7=CTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.spliceDist_5=-21;refseq.spliceDist_6=-21;refseq.spliceDist_7=-21;refseq.start_1=126141745;refseq.start_2=126141745;refseq.start_3=126141745;refseq.start_4=126141745;refseq.start_5=126141745;refseq.start_6=126141745;refseq.start_7=126141745;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;refseq.variantCodon_5=TTG;refseq.variantCodon_6=TTG;refseq.variantCodon_7=TTG;set=Intersection GT 1/1 chr9 126216982 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=98.76;MQ0=0;OQ=2363.97;QD=12.85;RankSumP=0.185002;SB=-994.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.116T>C;refseq.codonCoord=39;refseq.end=126216982;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_002799;refseq.name2=PSMB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V39A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-41;refseq.start=126216982;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr9 126601559 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=1.46799e-05;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.637A>C;refseq.codonCoord=213;refseq.end=126601559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_182487;refseq.name2=OLFML2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T213P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-33;refseq.start=126601559;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 126606199 . A G 364.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.52;MQ0=0;OQ=4159.16;QD=35.55;RankSumP=1.00000;SB=-1637.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.925A>G;refseq.codonCoord=309;refseq.end=126606199;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1038;refseq.name=NM_182487;refseq.name2=OLFML2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T309A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=126606199;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr9 126658597 . A G 197.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=1501.03;QD=32.63;RankSumP=1.00000;SB=-559.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.515A>G;refseq.codonCoord=172;refseq.end=126658597;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001045476;refseq.name2=WDR38;refseq.positionType=CDS;refseq.proteinCoordStr=p.H172R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=29;refseq.start=126658597;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr9 126658660 . C G 81.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=99.00;MQ0=0;OQ=3845.91;QD=44.21;RankSumP=1.00000;SB=-1377.48;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.578C>G;refseq.codonCoord=193;refseq.end=126658660;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_001045476;refseq.name2=WDR38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A193G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-41;refseq.start=126658660;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 126660050 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.340T>G;refseq.codonCoord=114;refseq.end=126660050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_007209;refseq.name2=RPL35;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y114D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-72;refseq.start=126660050;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr9 126714021 . A C 207.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=98.82;MQ0=0;OQ=16101.56;QD=36.68;RankSumP=1.00000;SB=-7510.64;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.949T>G;refseq.codonCoord=317;refseq.end=126714021;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1291;refseq.name=NM_002077;refseq.name2=GOLGA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L317V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-21;refseq.start=126714021;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr9 126778266 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1347A>C;refseq.codingCoordStr_2=c.1416A>C;refseq.codonCoord_1=449;refseq.codonCoord_2=472;refseq.end_1=126778266;refseq.end_2=126778266;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1469;refseq.mrnaCoord_2=1538;refseq.name2_1=SCAI;refseq.name2_2=SCAI;refseq.name_1=NM_001144877;refseq.name_2=NM_173690;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G449G;refseq.proteinCoordStr_2=p.G472G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=126778266;refseq.start_2=126778266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr9 127015475 . C T 351.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2615.53;QD=38.46;RankSumP=1.00000;SB=-323.33;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_2=c.217C>T;refseq.codingCoordStr_3=c.217C>T;refseq.codonCoord_2=73;refseq.codonCoord_3=73;refseq.end_1=127022628;refseq.end_2=127015475;refseq.end_3=127015475;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=386;refseq.mrnaCoord_3=547;refseq.name2_1=RABEPK;refseq.name2_2=RABEPK;refseq.name2_3=RABEPK;refseq.name_1=NM_001174153;refseq.name_2=NM_001174152;refseq.name_3=NM_005833;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H73Y;refseq.proteinCoordStr_3=p.H73Y;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=127009832;refseq.start_2=127015475;refseq.start_3=127015475;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/1 chr9 127038981 . A G 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.496114;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1676T>C;refseq.codonCoord=559;refseq.end=127038981;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_005347;refseq.name2=HSPA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I559T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=274;refseq.start=127038981;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr9 127038985 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.154932;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1672C>T;refseq.codonCoord=558;refseq.end=127038985;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1928;refseq.name=NM_005347;refseq.name2=HSPA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R558C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=270;refseq.start=127038985;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/0 chr9 127114628 . T C 252.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=1;HaplotypeScore=7.84;MQ=98.90;MQ0=0;OQ=16171.86;QD=41.47;RankSumP=1.00000;SB=-4688.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1518T>C;refseq.codonCoord=506;refseq.end=127114628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_015635;refseq.name2=GAPVD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I506I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=77;refseq.start=127114628;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr9 128493050 . A G 224.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.46;MQ0=0;OQ=2437.79;QD=14.01;RankSumP=0.103634;SB=-1031.18;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.441A>G;refseq.codingCoordStr_2=c.441A>G;refseq.codingCoordStr_3=c.441A>G;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.codonCoord_3=147;refseq.end_1=128493050;refseq.end_2=128493050;refseq.end_3=128493050;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=448;refseq.mrnaCoord_2=448;refseq.mrnaCoord_3=448;refseq.name2_1=LMX1B;refseq.name2_2=LMX1B;refseq.name2_3=LMX1B;refseq.name_1=NM_001174146;refseq.name_2=NM_001174147;refseq.name_3=NM_002316;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E147E;refseq.proteinCoordStr_2=p.E147E;refseq.proteinCoordStr_3=p.E147E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.spliceDist_3=115;refseq.start_1=128493050;refseq.start_2=128493050;refseq.start_3=128493050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr9 128495408 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=484.09;QD=17.93;RankSumP=0.753884;SB=-87.88;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.726G>C;refseq.codingCoordStr_2=c.726G>C;refseq.codingCoordStr_3=c.726G>C;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.codonCoord_3=242;refseq.end_1=128495408;refseq.end_2=128495408;refseq.end_3=128495408;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=733;refseq.mrnaCoord_3=733;refseq.name2_1=LMX1B;refseq.name2_2=LMX1B;refseq.name2_3=LMX1B;refseq.name_1=NM_001174146;refseq.name_2=NM_001174147;refseq.name_3=NM_002316;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S242S;refseq.proteinCoordStr_2=p.S242S;refseq.proteinCoordStr_3=p.S242S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=128495408;refseq.start_2=128495408;refseq.start_3=128495408;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 0/1 chr9 128635716 . T C 182.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=9.46;MQ=98.73;MQ0=0;OQ=9380.91;QD=36.93;RankSumP=1.00000;SB=-4481.07;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1107T>C;refseq.codingCoordStr_2=c.1107T>C;refseq.codonCoord_1=369;refseq.codonCoord_2=369;refseq.end_1=128635716;refseq.end_2=128635716;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1380;refseq.name2_1=ZBTB43;refseq.name2_2=ZBTB43;refseq.name_1=NM_001135776;refseq.name_2=NM_014007;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T369T;refseq.proteinCoordStr_2=p.T369T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=1130;refseq.spliceDist_2=1130;refseq.start_1=128635716;refseq.start_2=128635716;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr9 128891050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1471A>C;refseq.codonCoord_2=491;refseq.end_1=128968158;refseq.end_2=128891050;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1971;refseq.name2_1=RALGPS1;refseq.name2_2=ANGPTL2;refseq.name_1=NM_014636;refseq.name_2=NM_012098;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T491P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=189;refseq.start_1=128871467;refseq.start_2=128891050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr9 128976841 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1655.05;QD=19.24;RankSumP=0.446490;SB=-540.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.869G>A;refseq.codonCoord=290;refseq.end=128976841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_014636;refseq.name2=RALGPS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S290N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=27;refseq.start=128976841;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr9 129276033 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.750+2;refseq.codingCoordStr_2=c.750+2;refseq.codingCoordStr_3=c.750+2;refseq.end_1=129276033;refseq.end_2=129276033;refseq.end_3=129276033;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=LRSAM1;refseq.name2_2=LRSAM1;refseq.name2_3=LRSAM1;refseq.name_1=NM_001005373;refseq.name_2=NM_001005374;refseq.name_3=NM_138361;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=129276033;refseq.start_2=129276033;refseq.start_3=129276033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr9 129281987 . A G 191.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=93.62;MQ0=0;OQ=1301.04;QD=21.33;RankSumP=1.00000;SB=-77.36;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.952A>G;refseq.codingCoordStr_2=c.952A>G;refseq.codingCoordStr_3=c.952A>G;refseq.codonCoord_1=318;refseq.codonCoord_2=318;refseq.codonCoord_3=318;refseq.end_1=129281987;refseq.end_2=129281987;refseq.end_3=129281987;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1297;refseq.mrnaCoord_2=1029;refseq.mrnaCoord_3=1331;refseq.name2_1=LRSAM1;refseq.name2_2=LRSAM1;refseq.name2_3=LRSAM1;refseq.name_1=NM_001005373;refseq.name_2=NM_001005374;refseq.name_3=NM_138361;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N318D;refseq.proteinCoordStr_2=p.N318D;refseq.proteinCoordStr_3=p.N318D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=129281987;refseq.start_2=129281987;refseq.start_3=129281987;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr9 129327247 . A C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.000538791;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.293T>G;refseq.codingCoordStr_2=c.332T>G;refseq.codonCoord_1=98;refseq.codonCoord_2=111;refseq.end_1=129327247;refseq.end_2=129327247;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=345;refseq.mrnaCoord_2=534;refseq.name2_1=FAM129B;refseq.name2_2=FAM129B;refseq.name_1=NM_001035534;refseq.name_2=NM_022833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V98G;refseq.proteinCoordStr_2=p.V111G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=129327247;refseq.start_2=129327247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr9 129514832 . T C 139.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=530;Dels=0.00;HRun=0;HaplotypeScore=9.90;MQ=98.71;MQ0=0;OQ=17876.80;QD=33.73;RankSumP=1.00000;SB=-7073.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1161T>C;refseq.codonCoord=387;refseq.end=129514832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_001012502;refseq.name2=C9orf117;refseq.positionType=CDS;refseq.proteinCoordStr=p.S387S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=24;refseq.start=129514832;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr9 129515263 . A C 459.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.43;MQ0=0;OQ=4913.43;QD=38.39;RankSumP=1.00000;SB=-2404.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1448A>C;refseq.codonCoord=483;refseq.end=129515263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1488;refseq.name=NM_001012502;refseq.name2=C9orf117;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y483S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-44;refseq.start=129515263;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr9 129522217 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.445651;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.466C>A;refseq.codonCoord=156;refseq.end=129522217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_144965;refseq.name2=TTC16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L156M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=40;refseq.start=129522217;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/0 chr9 129529379 . A G 459.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.42;MQ0=0;OQ=5010.81;QD=40.09;RankSumP=1.00000;SB=-1716.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1578A>G;refseq.codonCoord=526;refseq.end=129529379;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_144965;refseq.name2=TTC16;refseq.positionType=CDS;refseq.proteinCoordStr=p.K526K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=129529379;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr9 129533334 . A G 363.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=1559.51;QD=41.04;RankSumP=1.00000;SB=-622.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2451A>G;refseq.codonCoord=817;refseq.end=129533334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2518;refseq.name=NM_144965;refseq.name2=TTC16;refseq.positionType=CDS;refseq.proteinCoordStr=p.K817K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-367;refseq.start=129533334;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr9 129534778 . T C 187.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.53;MQ0=0;OQ=719.28;QD=32.69;RankSumP=1.00000;SB=-348.64;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.607A>G;refseq.codingCoordStr_3=c.*815A>G;refseq.codingCoordStr_4=c.*538A>G;refseq.codonCoord_2=203;refseq.end_1=129535474;refseq.end_2=129534778;refseq.end_3=129534778;refseq.end_4=129534778;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.mrnaCoord_2=662;refseq.mrnaCoord_3=1089;refseq.mrnaCoord_4=1355;refseq.name2_1=TOR2A;refseq.name2_2=TOR2A;refseq.name2_3=TOR2A;refseq.name2_4=TOR2A;refseq.name_1=NM_001134430;refseq.name_2=NM_001085347;refseq.name_3=NM_001134431;refseq.name_4=NM_130459;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.proteinCoordStr_2=p.K203E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=14;refseq.spliceDist_3=883;refseq.spliceDist_4=883;refseq.start_1=129534389;refseq.start_2=129534778;refseq.start_3=129534778;refseq.start_4=129534778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr9 129535454 . C G 287.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=98.24;MQ0=0;OQ=2032.29;QD=43.24;RankSumP=1.00000;SB=-407.29;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_3=c.*139G>C;refseq.codingCoordStr_4=c.624G>C;refseq.codonCoord_4=208;refseq.end_1=129535474;refseq.end_2=129535474;refseq.end_3=129535454;refseq.end_4=129535454;refseq.frame_4=2;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=413;refseq.mrnaCoord_4=679;refseq.name2_1=TOR2A;refseq.name2_2=TOR2A;refseq.name2_3=TOR2A;refseq.name2_4=TOR2A;refseq.name_1=NM_001134430;refseq.name_2=NM_001085347;refseq.name_3=NM_001134431;refseq.name_4=NM_130459;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.W208C;refseq.referenceAA_4=Trp;refseq.referenceCodon_4=TGG;refseq.spliceDist_3=207;refseq.spliceDist_4=207;refseq.start_1=129534389;refseq.start_2=129534802;refseq.start_3=129535454;refseq.start_4=129535454;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Cys;refseq.variantCodon_4=TGC;set=Intersection GT 1/1 chr9 129536424 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=5;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.392A>C;refseq.codingCoordStr_3=c.392A>C;refseq.codingCoordStr_4=c.392A>C;refseq.codonCoord_2=131;refseq.codonCoord_3=131;refseq.codonCoord_4=131;refseq.end_1=129537209;refseq.end_2=129536424;refseq.end_3=129536424;refseq.end_4=129536424;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=447;refseq.mrnaCoord_3=447;refseq.mrnaCoord_4=447;refseq.name2_1=TOR2A;refseq.name2_2=TOR2A;refseq.name2_3=TOR2A;refseq.name2_4=TOR2A;refseq.name_1=NM_001134431;refseq.name_2=NM_001085347;refseq.name_3=NM_001134430;refseq.name_4=NM_130459;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.H131P;refseq.proteinCoordStr_3=p.H131P;refseq.proteinCoordStr_4=p.H131P;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.spliceDist_4=-26;refseq.start_1=129535671;refseq.start_2=129536424;refseq.start_3=129536424;refseq.start_4=129536424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr9 129543891 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=19.53;MQ=98.53;MQ0=0;OQ=1760.64;QD=11.36;RankSumP=0.185230;SB=-327.36;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.chr_6=chr9;refseq.codingCoordStr_1=c.1023C>T;refseq.codingCoordStr_2=c.1023C>T;refseq.codingCoordStr_3=c.1611C>T;refseq.codingCoordStr_4=c.1605C>T;refseq.codingCoordStr_5=c.1614C>T;refseq.codingCoordStr_6=c.2085C>T;refseq.codonCoord_1=341;refseq.codonCoord_2=341;refseq.codonCoord_3=537;refseq.codonCoord_4=535;refseq.codonCoord_5=538;refseq.codonCoord_6=695;refseq.end_1=129543891;refseq.end_2=129543891;refseq.end_3=129543891;refseq.end_4=129543891;refseq.end_5=129543891;refseq.end_6=129543891;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1619;refseq.mrnaCoord_2=1868;refseq.mrnaCoord_3=1756;refseq.mrnaCoord_4=1728;refseq.mrnaCoord_5=1727;refseq.mrnaCoord_6=2227;refseq.name2_1=SH2D3C;refseq.name2_2=SH2D3C;refseq.name2_3=SH2D3C;refseq.name2_4=SH2D3C;refseq.name2_5=SH2D3C;refseq.name2_6=SH2D3C;refseq.name_1=NM_001142531;refseq.name_2=NM_001142532;refseq.name_3=NM_001142533;refseq.name_4=NM_001142534;refseq.name_5=NM_005489;refseq.name_6=NM_170600;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A341A;refseq.proteinCoordStr_2=p.A341A;refseq.proteinCoordStr_3=p.A537A;refseq.proteinCoordStr_4=p.A535A;refseq.proteinCoordStr_5=p.A538A;refseq.proteinCoordStr_6=p.A695A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceDist_4=-4;refseq.spliceDist_5=-4;refseq.spliceDist_6=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.spliceInfo_4=splice-donor_-4;refseq.spliceInfo_5=splice-donor_-4;refseq.spliceInfo_6=splice-donor_-4;refseq.start_1=129543891;refseq.start_2=129543891;refseq.start_3=129543891;refseq.start_4=129543891;refseq.start_5=129543891;refseq.start_6=129543891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;set=Intersection GT 1/0 chr9 129576416 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.189T>C;refseq.codonCoord=63;refseq.end=129576416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_170600;refseq.name2=SH2D3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S63S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=152;refseq.start=129576416;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr9 129576538 . G A 328.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.87;MQ0=0;OQ=6172.09;QD=41.15;RankSumP=1.00000;SB=-2008.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.67C>T;refseq.codonCoord=23;refseq.end=129576538;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_170600;refseq.name2=SH2D3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=30;refseq.start=129576538;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr9 129605088 . A G 108.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=64.71;QD=16.18;RankSumP=1.00000;SB=-41.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.64A>G;refseq.codonCoord=22;refseq.end=129605088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=114;refseq.name=NM_004957;refseq.name2=FPGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I22V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-75;refseq.start=129605088;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=filterInsoap-gatk GT 1/1 chr9 129626509 . G A 291.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.06;MQ0=0;OQ=2683.68;QD=16.26;RankSumP=0.0511059;SB=-915.83;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1029C>T;refseq.codingCoordStr_2=c.1029C>T;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.end_1=129626509;refseq.end_2=129626509;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1442;refseq.mrnaCoord_2=1442;refseq.name2_1=ENG;refseq.name2_2=ENG;refseq.name_1=NM_000118;refseq.name_2=NM_001114753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T343T;refseq.proteinCoordStr_2=p.T343T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=129626509;refseq.start_2=129626509;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr9 129645206 . C T 307.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.69;MQ0=0;OQ=4231.75;QD=19.32;RankSumP=0.403573;SB=-1029.87;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.207G>A;refseq.codingCoordStr_2=c.207G>A;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=129645206;refseq.end_2=129645206;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=620;refseq.mrnaCoord_2=620;refseq.name2_1=ENG;refseq.name2_2=ENG;refseq.name_1=NM_000118;refseq.name_2=NM_001114753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L69L;refseq.proteinCoordStr_2=p.L69L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=129645206;refseq.start_2=129645206;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr9 129670460 . A G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=98.14;MQ0=0;OQ=1298.53;QD=32.46;RankSumP=1.00000;SB=-323.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=129670460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_000476;refseq.name2=AK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P159P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-40;refseq.start=129670460;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 129712124 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.646T>G;refseq.codingCoordStr_2=c.394T>G;refseq.codonCoord_1=216;refseq.codonCoord_2=132;refseq.end_1=129712124;refseq.end_2=129712124;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=922;refseq.mrnaCoord_2=835;refseq.name2_1=ST6GALNAC4;refseq.name2_2=ST6GALNAC4;refseq.name_1=NM_175039;refseq.name_2=NM_175040;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F216V;refseq.proteinCoordStr_2=p.F132V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=129712124;refseq.start_2=129712124;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr9 129737850 . G C 294.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.36;MQ0=0;OQ=8057.98;QD=45.53;RankSumP=1.00000;SB=-3961.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.227C>G;refseq.codonCoord=76;refseq.end=129737850;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_003863;refseq.name2=DPM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T76S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=31;refseq.start=129737850;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr9 129737864 . A G 442.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.38;MQ0=0;OQ=6182.14;QD=38.16;RankSumP=1.00000;SB=-2670.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.213T>C;refseq.codonCoord=71;refseq.end=129737864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_003863;refseq.name2=DPM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y71Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=17;refseq.start=129737864;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr9 129746902 . A G 327.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.47;MQ0=0;OQ=3178.70;QD=36.96;RankSumP=1.00000;SB=-1170.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1014T>C;refseq.codingCoordStr_2=c.588T>C;refseq.codonCoord_1=338;refseq.codonCoord_2=196;refseq.end_1=129746902;refseq.end_2=129746902;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1093;refseq.mrnaCoord_2=892;refseq.name2_1=FAM102A;refseq.name2_2=FAM102A;refseq.name_1=NM_001035254;refseq.name_2=NM_203305;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D338D;refseq.proteinCoordStr_2=p.D196D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=129746902;refseq.start_2=129746902;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr9 129868860 . A G 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=97.12;MQ0=0;OQ=932.58;QD=23.31;RankSumP=1.00000;SB=-36.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.342T>C;refseq.codonCoord=114;refseq.end=129868860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_197956;refseq.name2=NAIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G114G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-170;refseq.start=129868860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 129869024 . T G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.178A>C;refseq.codonCoord=60;refseq.end=129869024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_197956;refseq.name2=NAIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-334;refseq.start=129869024;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr9 129900687 . T C 409.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=98.62;MQ0=0;OQ=3102.43;QD=36.93;RankSumP=1.00000;SB=-1057.76;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_3=c.-332T>C;refseq.codingCoordStr_4=c.21T>C;refseq.codonCoord_4=7;refseq.end_1=129903185;refseq.end_2=129903185;refseq.end_3=129900687;refseq.end_4=129900687;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=31;refseq.mrnaCoord_4=50;refseq.name2_1=SLC25A25;refseq.name2_2=SLC25A25;refseq.name2_3=SLC25A25;refseq.name2_4=SLC25A25;refseq.name_1=NM_001006641;refseq.name_2=NM_001006642;refseq.name_3=NM_001006643;refseq.name_4=NM_052901;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.Y7Y;refseq.referenceAA_4=Tyr;refseq.referenceCodon_4=TAT;refseq.spliceDist_3=31;refseq.spliceDist_4=50;refseq.start_1=129870691;refseq.start_2=129894200;refseq.start_3=129900687;refseq.start_4=129900687;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.uorfChange_3=-1;refseq.variantAA_4=Tyr;refseq.variantCodon_4=TAC;set=Intersection GT 1/1 chr9 129904497 . T C 309.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=6.70;MQ=98.96;MQ0=0;OQ=12379.59;QD=38.09;RankSumP=1.00000;SB=-4132.77;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.504T>C;refseq.codingCoordStr_2=c.462T>C;refseq.codingCoordStr_3=c.93T>C;refseq.codingCoordStr_4=c.402T>C;refseq.codonCoord_1=168;refseq.codonCoord_2=154;refseq.codonCoord_3=31;refseq.codonCoord_4=134;refseq.end_1=129904497;refseq.end_2=129904497;refseq.end_3=129904497;refseq.end_4=129904497;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=624;refseq.mrnaCoord_2=484;refseq.mrnaCoord_3=455;refseq.mrnaCoord_4=431;refseq.name2_1=SLC25A25;refseq.name2_2=SLC25A25;refseq.name2_3=SLC25A25;refseq.name2_4=SLC25A25;refseq.name_1=NM_001006641;refseq.name_2=NM_001006642;refseq.name_3=NM_001006643;refseq.name_4=NM_052901;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I168I;refseq.proteinCoordStr_2=p.I154I;refseq.proteinCoordStr_3=p.I31I;refseq.proteinCoordStr_4=p.I134I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=28;refseq.start_1=129904497;refseq.start_2=129904497;refseq.start_3=129904497;refseq.start_4=129904497;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/1 chr9 129908313 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.964T>G;refseq.codingCoordStr_2=c.922T>G;refseq.codingCoordStr_3=c.553T>G;refseq.codingCoordStr_4=c.862T>G;refseq.codonCoord_1=322;refseq.codonCoord_2=308;refseq.codonCoord_3=185;refseq.codonCoord_4=288;refseq.end_1=129908313;refseq.end_2=129908313;refseq.end_3=129908313;refseq.end_4=129908313;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1084;refseq.mrnaCoord_2=944;refseq.mrnaCoord_3=915;refseq.mrnaCoord_4=891;refseq.name2_1=SLC25A25;refseq.name2_2=SLC25A25;refseq.name2_3=SLC25A25;refseq.name2_4=SLC25A25;refseq.name_1=NM_001006641;refseq.name_2=NM_001006642;refseq.name_3=NM_001006643;refseq.name_4=NM_052901;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S322A;refseq.proteinCoordStr_2=p.S308A;refseq.proteinCoordStr_3=p.S185A;refseq.proteinCoordStr_4=p.S288A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.start_1=129908313;refseq.start_2=129908313;refseq.start_3=129908313;refseq.start_4=129908313;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr9 129923332 . C T 321.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.14;MQ0=0;OQ=4018.80;QD=37.56;RankSumP=1.00000;SB=-1109.64;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.1047G>A;refseq.codonCoord_3=349;refseq.end_1=129923332;refseq.end_2=129923332;refseq.end_3=129923332;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1047;refseq.mrnaCoord_2=954;refseq.mrnaCoord_3=1525;refseq.name2_1=PTGES2;refseq.name2_2=PTGES2;refseq.name2_3=PTGES2;refseq.name_1=NR_027811;refseq.name_2=NR_027812;refseq.name_3=NM_025072;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A349A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=129923332;refseq.start_2=129923332;refseq.start_3=129923332;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr9 129925193 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_3=c.728T>G;refseq.codonCoord_3=243;refseq.end_1=129925193;refseq.end_2=129925193;refseq.end_3=129925193;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=728;refseq.mrnaCoord_2=635;refseq.mrnaCoord_3=1206;refseq.name2_1=PTGES2;refseq.name2_2=PTGES2;refseq.name2_3=PTGES2;refseq.name_1=NR_027811;refseq.name_2=NR_027812;refseq.name_3=NM_025072;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V243G;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=129925193;refseq.start_2=129925193;refseq.start_3=129925193;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr9 129968454 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=67.98;QD=8.50;RankSumP=0.342857;SB=-34.52;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.2372G>A;refseq.codingCoordStr_2=c.2540G>A;refseq.codingCoordStr_3=c.2357G>A;refseq.codingCoordStr_4=c.2300G>A;refseq.codingCoordStr_5=c.2540G>A;refseq.codonCoord_1=791;refseq.codonCoord_2=847;refseq.codonCoord_3=786;refseq.codonCoord_4=767;refseq.codonCoord_5=847;refseq.end_1=129968454;refseq.end_2=129968454;refseq.end_3=129968454;refseq.end_4=129968454;refseq.end_5=129968454;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2575;refseq.mrnaCoord_2=2703;refseq.mrnaCoord_3=2520;refseq.mrnaCoord_4=2463;refseq.mrnaCoord_5=2743;refseq.name2_1=CIZ1;refseq.name2_2=CIZ1;refseq.name2_3=CIZ1;refseq.name2_4=CIZ1;refseq.name2_5=CIZ1;refseq.name_1=NM_001131015;refseq.name_2=NM_001131016;refseq.name_3=NM_001131017;refseq.name_4=NM_001131018;refseq.name_5=NM_012127;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R791Q;refseq.proteinCoordStr_2=p.R847Q;refseq.proteinCoordStr_3=p.R786Q;refseq.proteinCoordStr_4=p.R767Q;refseq.proteinCoordStr_5=p.R847Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.referenceCodon_5=CGG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.spliceDist_4=53;refseq.spliceDist_5=53;refseq.start_1=129968454;refseq.start_2=129968454;refseq.start_3=129968454;refseq.start_4=129968454;refseq.start_5=129968454;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;set=Intersection GT 0/1 chr9 129978482 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=23.19;MQ=98.64;MQ0=0;OQ=7568.46;QD=17.40;RankSumP=0.0973735;SB=-2328.26;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1744G>A;refseq.codingCoordStr_2=c.1912G>A;refseq.codingCoordStr_3=c.1729G>A;refseq.codingCoordStr_4=c.1672G>A;refseq.codingCoordStr_5=c.1912G>A;refseq.codonCoord_1=582;refseq.codonCoord_2=638;refseq.codonCoord_3=577;refseq.codonCoord_4=558;refseq.codonCoord_5=638;refseq.end_1=129978482;refseq.end_2=129978482;refseq.end_3=129978482;refseq.end_4=129978482;refseq.end_5=129978482;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1947;refseq.mrnaCoord_2=2075;refseq.mrnaCoord_3=1892;refseq.mrnaCoord_4=1835;refseq.mrnaCoord_5=2115;refseq.name2_1=CIZ1;refseq.name2_2=CIZ1;refseq.name2_3=CIZ1;refseq.name2_4=CIZ1;refseq.name2_5=CIZ1;refseq.name_1=NM_001131015;refseq.name_2=NM_001131016;refseq.name_3=NM_001131017;refseq.name_4=NM_001131018;refseq.name_5=NM_012127;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V582M;refseq.proteinCoordStr_2=p.V638M;refseq.proteinCoordStr_3=p.V577M;refseq.proteinCoordStr_4=p.V558M;refseq.proteinCoordStr_5=p.V638M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.spliceDist_4=-32;refseq.spliceDist_5=-32;refseq.start_1=129978482;refseq.start_2=129978482;refseq.start_3=129978482;refseq.start_4=129978482;refseq.start_5=129978482;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;set=Intersection GT 0/1 chr9 130024576 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.48;MQ0=0;OQ=5188.12;QD=41.18;RankSumP=1.00000;SB=-2566.77;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 130059586 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2677G>T;refseq.codonCoord=893;refseq.end=130059586;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2690;refseq.name=NM_004486;refseq.name2=GOLGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V893L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=130059586;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr9 130125194 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=12.14;MQ=97.09;MQ0=0;OQ=2618.10;QD=29.75;RankSumP=1.00000;SB=-737.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.149G>C;refseq.codonCoord=50;refseq.end=130125194;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_016035;refseq.name2=COQ4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G50A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-54;refseq.start=130125194;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 130145350 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.118C>G;refseq.codonCoord=40;refseq.end=130145350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_005094;refseq.name2=SLC27A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R40G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-44;refseq.start=130145350;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr9 130155251 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1114T>C;refseq.codonCoord=372;refseq.end=130155251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_005094;refseq.name2=SLC27A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S372P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-84;refseq.start=130155251;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 130225024 . C G 99 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=56;Dels=0.00;HRun=2;HaplotypeScore=4.80;MQ=97.52;MQ0=0;QD=0.42;RankSumP=1.09353e-07;SB=77.29;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.254C>G;refseq.codonCoord=85;refseq.end=130225024;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_016174;refseq.name2=CERCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.A85G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-55;refseq.start=130225024;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 130236289 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=3.64750e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1291A>G;refseq.codonCoord=431;refseq.end=130236289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_016174;refseq.name2=CERCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.M431V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-41;refseq.start=130236289;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr9 130275142 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=6.02;MQ=97.33;MQ0=0;OQ=2806.37;QD=29.86;RankSumP=1.00000;SB=-818.06;SecondBestBaseQ=0;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.638+1;refseq.codingCoordStr_2=c.653+1;refseq.end_1=130275142;refseq.end_2=130275142;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ODF2;refseq.name2_2=ODF2;refseq.name_1=NM_002540;refseq.name_2=NM_153437;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-donor_1;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=130275142;refseq.start_2=130275142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr9 130283729 . C G 19.10 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=286;Dels=0.00;HRun=2;HaplotypeScore=23.88;MQ=96.99;MQ0=0;QD=0.07;RankSumP=0.00000;SB=444.52;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.821C>G;refseq.codingCoordStr_2=c.836C>G;refseq.codonCoord_1=274;refseq.codonCoord_2=279;refseq.end_1=130283729;refseq.end_2=130283729;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=1100;refseq.name2_1=ODF2;refseq.name2_2=ODF2;refseq.name_1=NM_002540;refseq.name_2=NM_153437;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A274G;refseq.proteinCoordStr_2=p.A279G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=130283729;refseq.start_2=130283729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr9 130283732 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.824A>G;refseq.codingCoordStr_2=c.839A>G;refseq.codonCoord_1=275;refseq.codonCoord_2=280;refseq.end_1=130283732;refseq.end_2=130283732;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1409;refseq.mrnaCoord_2=1103;refseq.name2_1=ODF2;refseq.name2_2=ODF2;refseq.name_1=NM_002540;refseq.name_2=NM_153437;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E275G;refseq.proteinCoordStr_2=p.E280G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=130283732;refseq.start_2=130283732;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr9 130300605 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2033A>G;refseq.codonCoord=678;refseq.end=130300605;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2618;refseq.name=NM_002540;refseq.name2=ODF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E678G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-71;refseq.start=130300605;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 130335696 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=178;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=98.84;MQ0=0;OQ=3901.92;QD=21.92;RankSumP=0.0611980;SB=-1653.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1396G>A;refseq.codingCoordStr_2=c.1396G>A;refseq.codonCoord_1=466;refseq.codonCoord_2=466;refseq.end_1=130335696;refseq.end_2=130335696;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1510;refseq.mrnaCoord_2=1510;refseq.name2_1=GLE1;refseq.name2_2=GLE1;refseq.name_1=NM_001003722;refseq.name_2=NM_001499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V466I;refseq.proteinCoordStr_2=p.V466I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=130335696;refseq.start_2=130335696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr9 130386039 . A C 226.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=287;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.09;MQ0=0;OQ=11302.23;QD=39.38;RankSumP=1.00000;SB=-4913.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2163A>C;refseq.codingCoordStr_2=c.2163A>C;refseq.codonCoord_1=721;refseq.codonCoord_2=721;refseq.end_1=130386039;refseq.end_2=130386039;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2276;refseq.mrnaCoord_2=2276;refseq.name2_1=SPTAN1;refseq.name2_2=SPTAN1;refseq.name_1=NM_001130438;refseq.name_2=NM_003127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A721A;refseq.proteinCoordStr_2=p.A721A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=130386039;refseq.start_2=130386039;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr9 130400571 . C T 222.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=98.87;MQ0=0;OQ=6466.35;QD=42.26;RankSumP=1.00000;SB=-2477.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3486C>T;refseq.codingCoordStr_2=c.3486C>T;refseq.codonCoord_1=1162;refseq.codonCoord_2=1162;refseq.end_1=130400571;refseq.end_2=130400571;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3599;refseq.mrnaCoord_2=3599;refseq.name2_1=SPTAN1;refseq.name2_2=SPTAN1;refseq.name_1=NM_001130438;refseq.name_2=NM_003127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1162L;refseq.proteinCoordStr_2=p.L1162L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=130400571;refseq.start_2=130400571;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr9 130415522 . A G 175.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.97;MQ0=0;OQ=12960.56;QD=42.22;RankSumP=1.00000;SB=-5798.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.5085A>G;refseq.codingCoordStr_2=c.5070A>G;refseq.codonCoord_1=1695;refseq.codonCoord_2=1690;refseq.end_1=130415522;refseq.end_2=130415522;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5198;refseq.mrnaCoord_2=5183;refseq.name2_1=SPTAN1;refseq.name2_2=SPTAN1;refseq.name_1=NM_001130438;refseq.name_2=NM_003127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1695L;refseq.proteinCoordStr_2=p.L1690L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=130415522;refseq.start_2=130415522;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr9 130419788 . C T 332.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=4848.29;QD=40.74;RankSumP=1.00000;SB=-1369.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.5406C>T;refseq.codingCoordStr_2=c.5391C>T;refseq.codonCoord_1=1802;refseq.codonCoord_2=1797;refseq.end_1=130419788;refseq.end_2=130419788;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5519;refseq.mrnaCoord_2=5504;refseq.name2_1=SPTAN1;refseq.name2_2=SPTAN1;refseq.name_1=NM_001130438;refseq.name_2=NM_003127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1802T;refseq.proteinCoordStr_2=p.T1797T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=130419788;refseq.start_2=130419788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr9 130420985 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.5615A>G;refseq.codingCoordStr_2=c.5600A>G;refseq.codonCoord_1=1872;refseq.codonCoord_2=1867;refseq.end_1=130420985;refseq.end_2=130420985;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5728;refseq.mrnaCoord_2=5713;refseq.name2_1=SPTAN1;refseq.name2_2=SPTAN1;refseq.name_1=NM_001130438;refseq.name_2=NM_003127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1872G;refseq.proteinCoordStr_2=p.E1867G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=130420985;refseq.start_2=130420985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr9 130437300 . G A 123.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=10.25;MQ=96.11;MQ0=0;OQ=3640.69;QD=32.51;RankSumP=1.00000;SB=-707.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.873C>T;refseq.codonCoord=291;refseq.end=130437300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_052844;refseq.name2=WDR34;refseq.positionType=CDS;refseq.proteinCoordStr=p.T291T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=60;refseq.start=130437300;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr9 130438457 . C T 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=96.05;MQ0=0;OQ=549.71;QD=30.54;RankSumP=1.00000;SB=-278.87;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.627G>A;refseq.codonCoord=209;refseq.end=130438457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_052844;refseq.name2=WDR34;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q209Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-77;refseq.start=130438457;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr9 130442917 . A G 364.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=98.72;MQ0=0;OQ=6843.50;QD=35.46;RankSumP=1.00000;SB=-3160.57;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=130442917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_052844;refseq.name2=WDR34;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y103Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=123;refseq.start=130442917;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr9 130458649 . A C 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=7;Dels=0.00;HRun=3;HaplotypeScore=1.59;MQ=96.53;MQ0=0;OQ=102.80;QD=14.69;RankSumP=1.00000;SB=-68.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.178T>G;refseq.codonCoord=60;refseq.end=130458649;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_052844;refseq.name2=WDR34;refseq.positionType=CDS;refseq.proteinCoordStr=p.W60G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=130458649;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=filterInsoap-gatk GT 1/1 chr9 130515404 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=138;Dels=0.00;HRun=0;HaplotypeScore=13.14;MQ=98.62;MQ0=0;OQ=1860.22;QD=13.48;RankSumP=0.0213415;SB=-882.53;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1009G>C;refseq.codonCoord=337;refseq.end=130515404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_013355;refseq.name2=PKN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D337H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=27;refseq.start=130515404;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr9 130523570 . T A 313.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=517.18;QD=36.94;RankSumP=1.00000;SB=-258.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.515A>T;refseq.codonCoord=172;refseq.end=130523570;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_032799;refseq.name2=ZDHHC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q172L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=33;refseq.start=130523570;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr9 130524552 . G A 23.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=99.00;MQ0=0;QD=2.59;RankSumP=0.250000;SB=-36.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.223C>T;refseq.codonCoord=75;refseq.end=130524552;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_032799;refseq.name2=ZDHHC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q75*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-15;refseq.start=130524552;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 1/0 chr9 130555368 . G T 314.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.80;MQ0=0;OQ=1786.33;QD=33.70;RankSumP=1.00000;SB=-759.74;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.642C>A;refseq.codonCoord=214;refseq.end=130555368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1075;refseq.name=NM_006336;refseq.name2=ZER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A214A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-105;refseq.start=130555368;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr9 130624890 . A G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=96.83;MQ0=0;OQ=1528.21;QD=39.18;RankSumP=1.00000;SB=-654.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1106T>C;refseq.codonCoord=369;refseq.end=130624890;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_016390;refseq.name2=C9orf114;refseq.positionType=CDS;refseq.proteinCoordStr=p.I369T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=44;refseq.start=130624890;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr9 130729182 . G A 234.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=98.72;MQ0=0;OQ=18141.07;QD=42.89;RankSumP=1.00000;SB=-7778.96;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.78G>A;refseq.codingCoordStr_2=c.78G>A;refseq.codingCoordStr_3=c.78G>A;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.codonCoord_3=26;refseq.end_1=130729182;refseq.end_2=130729182;refseq.end_3=130729182;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=119;refseq.mrnaCoord_3=1011;refseq.name2_1=PHYHD1;refseq.name2_2=PHYHD1;refseq.name2_3=PHYHD1;refseq.name_1=NM_001100876;refseq.name_2=NM_001100877;refseq.name_3=NM_174933;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A26A;refseq.proteinCoordStr_2=p.A26A;refseq.proteinCoordStr_3=p.A26A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=130729182;refseq.start_2=130729182;refseq.start_3=130729182;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr9 130742712 . A G 304.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.33;MQ0=0;OQ=4157.33;QD=37.45;RankSumP=1.00000;SB=-1878.27;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.600A>G;refseq.codingCoordStr_2=c.537A>G;refseq.codingCoordStr_3=c.578A>G;refseq.codonCoord_1=200;refseq.codonCoord_2=179;refseq.codonCoord_3=193;refseq.end_1=130742712;refseq.end_2=130742712;refseq.end_3=130742712;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1533;refseq.mrnaCoord_2=578;refseq.mrnaCoord_3=1511;refseq.name2_1=PHYHD1;refseq.name2_2=PHYHD1;refseq.name2_3=PHYHD1;refseq.name_1=NM_001100876;refseq.name_2=NM_001100877;refseq.name_3=NM_174933;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R200R;refseq.proteinCoordStr_2=p.R179R;refseq.proteinCoordStr_3=p.E193G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=130742712;refseq.start_2=130742712;refseq.start_3=130742712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Gly;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=GGA;set=Intersection GT 1/1 chr9 130804004 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4065A>G;refseq.codonCoord=1355;refseq.end=130804004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4087;refseq.name=NM_015354;refseq.name2=NUP188;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1355G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=21;refseq.start=130804004;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 130807489 . A C 147.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=97.92;MQ0=0;OQ=2408.19;QD=32.99;RankSumP=1.00000;SB=-791.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4596A>C;refseq.codonCoord=1532;refseq.end=130807489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4618;refseq.name=NM_015354;refseq.name2=NUP188;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1532S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=87;refseq.start=130807489;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr9 130808653 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.5125T>C;refseq.codonCoord=1709;refseq.end=130808653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5147;refseq.name=NM_015354;refseq.name2=NUP188;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1709P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=52;refseq.start=130808653;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 130811326 . C T 50.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.55;MQ0=0;OQ=892.14;QD=23.48;RankSumP=1.00000;SB=-195.75;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.960G>A;refseq.codonCoord=320;refseq.end=130811326;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_020145;refseq.name2=SH3GLB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P320P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=121;refseq.start=130811326;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr9 130850601 . C T 12.51 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=0.89;RankSumP=0.0815934;SB=-31.60;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.382C>T;refseq.codonCoord=128;refseq.end=130850601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_032809;refseq.name2=FAM73B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P128S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-39;refseq.start=130850601;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr9 130861306 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.12;MQ0=0;OQ=881.67;QD=16.96;RankSumP=0.718468;SB=-194.27;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.728G>A;refseq.codonCoord=243;refseq.end=130861306;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_032809;refseq.name2=FAM73B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R243H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=53;refseq.start=130861306;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr9 130886778 . T C 215.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=98.80;MQ0=0;OQ=4747.64;QD=37.68;RankSumP=1.00000;SB=-1668.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.87T>C;refseq.codingCoordStr_2=c.87T>C;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.end_1=130886778;refseq.end_2=130886778;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=115;refseq.mrnaCoord_2=115;refseq.name2_1=DOLPP1;refseq.name2_2=DOLPP1;refseq.name_1=NM_001135917;refseq.name_2=NM_020438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S29S;refseq.proteinCoordStr_2=p.S29S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=130886778;refseq.start_2=130886778;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr9 130900722 . G T 367.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.76;MQ0=0;OQ=15236.64;QD=35.94;RankSumP=1.00000;SB=-3358.34;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1114C>A;refseq.codonCoord_2=372;refseq.end_1=130900722;refseq.end_2=130900722;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1495;refseq.mrnaCoord_2=1396;refseq.name2_1=CRAT;refseq.name2_2=CRAT;refseq.name_1=NR_028048;refseq.name_2=NM_000755;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L372M;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=130900722;refseq.start_2=130900722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr9 130904635 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=8.89958e-07;SecondBestBaseQ=11;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.495G>A;refseq.codonCoord_2=165;refseq.end_1=130904635;refseq.end_2=130904635;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=876;refseq.mrnaCoord_2=777;refseq.name2_1=CRAT;refseq.name2_2=CRAT;refseq.name_1=NR_028048;refseq.name_2=NM_000755;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G165G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=130904635;refseq.start_2=130904635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr9 130922632 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.51T>C;refseq.codingCoordStr_2=c.51T>C;refseq.codingCoordStr_3=c.51T>C;refseq.codingCoordStr_4=c.51T>C;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.codonCoord_4=17;refseq.end_1=130922632;refseq.end_2=130922632;refseq.end_3=130922632;refseq.end_4=130922632;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=248;refseq.mrnaCoord_2=318;refseq.mrnaCoord_3=318;refseq.mrnaCoord_4=318;refseq.name2_1=PPP2R4;refseq.name2_2=PPP2R4;refseq.name2_3=PPP2R4;refseq.name2_4=PPP2R4;refseq.name_1=NM_021131;refseq.name_2=NM_178000;refseq.name_3=NM_178001;refseq.name_4=NM_178003;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P17P;refseq.proteinCoordStr_2=p.P17P;refseq.proteinCoordStr_3=p.P17P;refseq.proteinCoordStr_4=p.P17P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.start_1=130922632;refseq.start_2=130922632;refseq.start_3=130922632;refseq.start_4=130922632;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr9 131415613 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.965A>G;refseq.codonCoord=322;refseq.end=131415613;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1167;refseq.name=NM_199350;refseq.name2=C9orf50;refseq.positionType=CDS;refseq.proteinCoordStr=p.E322G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-79;refseq.start=131415613;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 131417721 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=503.93;QD=10.08;RankSumP=0.739489;SB=-135.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.743G>A;refseq.codonCoord=248;refseq.end=131417721;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=945;refseq.name=NM_199350;refseq.name2=C9orf50;refseq.positionType=CDS;refseq.proteinCoordStr=p.R248K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=27;refseq.start=131417721;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr9 131436230 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=5.14311e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.239T>C;refseq.codonCoord=80;refseq.end=131436230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_014064;refseq.name2=METTL11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L80P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=77;refseq.start=131436230;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 131440301 . G A 322.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.25;MQ0=0;OQ=2801.68;QD=19.73;RankSumP=0.109991;SB=-1249.51;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.855C>T;refseq.codingCoordStr_2=c.*152C>T;refseq.codonCoord_1=285;refseq.end_1=131440301;refseq.end_2=131440301;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1021;refseq.mrnaCoord_2=912;refseq.name2_1=ASB6;refseq.name2_2=ASB6;refseq.name_1=NM_017873;refseq.name_2=NM_177999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A285A;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCC;refseq.spliceDist_1=257;refseq.spliceDist_2=257;refseq.start_1=131440301;refseq.start_2=131440301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCT;set=Intersection GT 1/0 chr9 131442729 . C G 301.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=97.85;MQ0=0;OQ=6213.55;QD=43.15;RankSumP=1.00000;SB=-2212.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.207G>C;refseq.codingCoordStr_2=c.207G>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=131442729;refseq.end_2=131442729;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=373;refseq.mrnaCoord_2=373;refseq.name2_1=ASB6;refseq.name2_2=ASB6;refseq.name_1=NM_017873;refseq.name_2=NM_177999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V69V;refseq.proteinCoordStr_2=p.V69V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=131442729;refseq.start_2=131442729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr9 131609374 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=44.48;MQ=98.76;MQ0=0;OQ=10712.73;QD=17.91;RankSumP=0.252718;SB=-2284.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.552C>T;refseq.codonCoord=184;refseq.end=131609374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_014506;refseq.name2=TOR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P184P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=87;refseq.start=131609374;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr9 131631330 . A G 68.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=119.87;QD=13.32;RankSumP=0.0583333;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.753T>C;refseq.codonCoord=251;refseq.end=131631330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_016520;refseq.name2=C9orf78;refseq.positionType=CDS;refseq.proteinCoordStr=p.G251G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-26;refseq.start=131631330;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr9 131636842 . C T 111.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.68;MQ0=0;OQ=2019.55;QD=13.46;RankSumP=0.100286;SB=-842.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.108G>A;refseq.codonCoord=36;refseq.end=131636842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_016520;refseq.name2=C9orf78;refseq.positionType=CDS;refseq.proteinCoordStr=p.E36E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=25;refseq.start=131636842;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 131660185 . T C 243.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=8.94;MQ=98.81;MQ0=0;OQ=7702.45;QD=37.94;RankSumP=1.00000;SB=-1952.38;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.171T>C;refseq.codingCoordStr_2=c.171T>C;refseq.codingCoordStr_3=c.171T>C;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.end_1=131660185;refseq.end_2=131660185;refseq.end_3=131660185;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=382;refseq.mrnaCoord_3=382;refseq.name2_1=USP20;refseq.name2_2=USP20;refseq.name2_3=USP20;refseq.name_1=NM_001008563;refseq.name_2=NM_001110303;refseq.name_3=NM_006676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F57F;refseq.proteinCoordStr_2=p.F57F;refseq.proteinCoordStr_3=p.F57F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=131660185;refseq.start_2=131660185;refseq.start_3=131660185;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr9 131663114 . C T 281.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.43;MQ0=0;OQ=5230.56;QD=33.10;RankSumP=1.00000;SB=-1178.51;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.408C>T;refseq.codingCoordStr_2=c.408C>T;refseq.codingCoordStr_3=c.408C>T;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.codonCoord_3=136;refseq.end_1=131663114;refseq.end_2=131663114;refseq.end_3=131663114;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=656;refseq.mrnaCoord_2=619;refseq.mrnaCoord_3=619;refseq.name2_1=USP20;refseq.name2_2=USP20;refseq.name2_3=USP20;refseq.name_1=NM_001008563;refseq.name_2=NM_001110303;refseq.name_3=NM_006676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D136D;refseq.proteinCoordStr_2=p.D136D;refseq.proteinCoordStr_3=p.D136D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=131663114;refseq.start_2=131663114;refseq.start_3=131663114;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr9 131663689 . T C 208.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=2131.24;QD=35.52;RankSumP=1.00000;SB=-982.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.474T>C;refseq.codingCoordStr_2=c.474T>C;refseq.codingCoordStr_3=c.474T>C;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.codonCoord_3=158;refseq.end_1=131663689;refseq.end_2=131663689;refseq.end_3=131663689;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=722;refseq.mrnaCoord_2=685;refseq.mrnaCoord_3=685;refseq.name2_1=USP20;refseq.name2_2=USP20;refseq.name2_3=USP20;refseq.name_1=NM_001008563;refseq.name_2=NM_001110303;refseq.name_3=NM_006676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A158A;refseq.proteinCoordStr_2=p.A158A;refseq.proteinCoordStr_3=p.A158A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=131663689;refseq.start_2=131663689;refseq.start_3=131663689;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr9 131671501 . T C 260.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.59;MQ0=0;OQ=4009.68;QD=32.34;RankSumP=1.00000;SB=-1226.50;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1368T>C;refseq.codingCoordStr_2=c.1368T>C;refseq.codingCoordStr_3=c.1368T>C;refseq.codonCoord_1=456;refseq.codonCoord_2=456;refseq.codonCoord_3=456;refseq.end_1=131671501;refseq.end_2=131671501;refseq.end_3=131671501;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1616;refseq.mrnaCoord_2=1579;refseq.mrnaCoord_3=1579;refseq.name2_1=USP20;refseq.name2_2=USP20;refseq.name2_3=USP20;refseq.name_1=NM_001008563;refseq.name_2=NM_001110303;refseq.name_3=NM_006676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L456L;refseq.proteinCoordStr_2=p.L456L;refseq.proteinCoordStr_3=p.L456L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=131671501;refseq.start_2=131671501;refseq.start_3=131671501;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/1 chr9 131677533 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.47;MQ0=0;OQ=1159.68;QD=12.21;RankSumP=0.496792;SB=-407.30;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.2172G>A;refseq.codingCoordStr_2=c.2172G>A;refseq.codingCoordStr_3=c.2172G>A;refseq.codonCoord_1=724;refseq.codonCoord_2=724;refseq.codonCoord_3=724;refseq.end_1=131677533;refseq.end_2=131677533;refseq.end_3=131677533;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2420;refseq.mrnaCoord_2=2383;refseq.mrnaCoord_3=2383;refseq.name2_1=USP20;refseq.name2_2=USP20;refseq.name2_3=USP20;refseq.name_1=NM_001008563;refseq.name_2=NM_001110303;refseq.name_3=NM_006676;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A724A;refseq.proteinCoordStr_2=p.A724A;refseq.proteinCoordStr_3=p.A724A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=131677533;refseq.start_2=131677533;refseq.start_3=131677533;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr9 131906585 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1197G>T;refseq.codingCoordStr_2=c.1197G>T;refseq.codingCoordStr_3=c.1197G>T;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.codonCoord_3=399;refseq.end_1=131906585;refseq.end_2=131906585;refseq.end_3=131906585;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1424;refseq.mrnaCoord_2=1424;refseq.mrnaCoord_3=1424;refseq.name2_1=GPR107;refseq.name2_2=GPR107;refseq.name2_3=GPR107;refseq.name_1=NM_001136557;refseq.name_2=NM_001136558;refseq.name_3=NM_020960;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L399F;refseq.proteinCoordStr_2=p.L399F;refseq.proteinCoordStr_3=p.L399F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.start_1=131906585;refseq.start_2=131906585;refseq.start_3=131906585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr9 132336047 . C T 295.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=4.36;MQ=99.00;MQ0=0;OQ=2253.17;QD=17.60;RankSumP=0.197258;SB=-755.97;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.501C>T;refseq.codingCoordStr_2=c.501C>T;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.end_1=132336047;refseq.end_2=132336047;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=857;refseq.mrnaCoord_2=795;refseq.name2_1=ASS1;refseq.name2_2=ASS1;refseq.name_1=NM_000050;refseq.name_2=NM_054012;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H167H;refseq.proteinCoordStr_2=p.H167H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=132336047;refseq.start_2=132336047;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr9 132478177 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=227;Dels=0.00;HRun=4;HaplotypeScore=21.36;MQ=98.21;MQ0=0;OQ=51.26;QD=0.23;RankSumP=0.00000;SB=294.02;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.288A>G;refseq.codonCoord=96;refseq.end=132478177;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_003934;refseq.name2=FUBP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=14;refseq.start=132478177;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 132543814 . C T 196.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2280.27;QD=15.20;RankSumP=0.390888;SB=-835.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.648C>T;refseq.codonCoord=216;refseq.end=132543814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_021619;refseq.name2=PRDM12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P216P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-35;refseq.start=132543814;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr9 132546603 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.830A>C;refseq.codonCoord=277;refseq.end=132546603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_021619;refseq.name2=PRDM12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N277T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=148;refseq.start=132546603;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr9 132750541 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3043A>C;refseq.codingCoordStr_2=c.3100A>C;refseq.codonCoord_1=1015;refseq.codonCoord_2=1034;refseq.end_1=132750541;refseq.end_2=132750541;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3046;refseq.mrnaCoord_2=3539;refseq.name2_1=ABL1;refseq.name2_2=ABL1;refseq.name_1=NM_005157;refseq.name_2=NM_007313;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1015P;refseq.proteinCoordStr_2=p.T1034P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1365;refseq.spliceDist_2=1365;refseq.start_1=132750541;refseq.start_2=132750541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr9 132750822 . A G 180.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.98;MQ0=0;OQ=1746.92;QD=15.32;RankSumP=0.0193120;SB=-864.59;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3324A>G;refseq.codingCoordStr_2=c.3381A>G;refseq.codonCoord_1=1108;refseq.codonCoord_2=1127;refseq.end_1=132750822;refseq.end_2=132750822;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3327;refseq.mrnaCoord_2=3820;refseq.name2_1=ABL1;refseq.name2_2=ABL1;refseq.name_1=NM_005157;refseq.name_2=NM_007313;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1108P;refseq.proteinCoordStr_2=p.P1127P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=1646;refseq.spliceDist_2=1646;refseq.start_1=132750822;refseq.start_2=132750822;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr9 132758990 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=8.21;MQ=98.70;MQ0=0;OQ=1124.54;QD=10.71;RankSumP=0.00255917;SB=-385.24;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.57C>T;refseq.codonCoord=19;refseq.end=132758990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_198180;refseq.name2=QRFP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F19F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=57;refseq.start=132758990;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/0 chr9 132777046 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=96.18;MQ0=0;OQ=448.08;QD=9.96;RankSumP=0.597732;SB=-144.65;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.900T>C;refseq.codingCoordStr_2=c.900T>C;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=132777046;refseq.end_2=132777046;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1007;refseq.mrnaCoord_2=1145;refseq.name2_1=FIBCD1;refseq.name2_2=FIBCD1;refseq.name_1=NM_001145106;refseq.name_2=NM_032843;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D300D;refseq.proteinCoordStr_2=p.D300D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=132777046;refseq.start_2=132777046;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr9 132874641 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.219T>G;refseq.codonCoord=73;refseq.end=132874641;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H73Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-155;refseq.start=132874641;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr9 132891640 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=99.00;MQ0=0;OQ=660.03;QD=7.95;RankSumP=0.325114;SB=-320.97;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.521C>A;refseq.codonCoord=174;refseq.end=132891640;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P174H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=148;refseq.start=132891640;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr9 132891641 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=3.27;MQ=99.00;MQ0=0;OQ=884.79;QD=10.66;RankSumP=0.0190306;SB=-434.95;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.522C>G;refseq.codonCoord=174;refseq.end=132891641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P174P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=149;refseq.start=132891641;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr9 132901419 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=150;Dels=0.00;HRun=2;HaplotypeScore=26.33;MQ=97.02;MQ0=0;OQ=1312.91;QD=8.75;RankSumP=0.281368;SB=-595.73;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.855A>G;refseq.codonCoord=285;refseq.end=132901419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A285A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=46;refseq.start=132901419;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr9 132904142 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.57;MQ0=0;OQ=989.09;QD=13.01;RankSumP=0.471897;SB=-339.35;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1047C>T;refseq.codonCoord=349;refseq.end=132904142;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1145;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G349G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=71;refseq.start=132904142;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr9 132914272 . C T 59.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.61;MQ0=0;OQ=305.51;QD=23.50;RankSumP=0.148214;SB=-164.64;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1564C>T;refseq.codonCoord=522;refseq.end=132914272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P522S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=45;refseq.start=132914272;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr9 132917699 . A G 279.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4450.77;QD=42.80;RankSumP=1.00000;SB=-1516.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1631A>G;refseq.codonCoord=544;refseq.end=132917699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1729;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E544G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=132917699;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 132918166 . C T 141.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=97.66;MQ0=0;OQ=2356.19;QD=32.28;RankSumP=1.00000;SB=-285.87;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1932C>T;refseq.codonCoord=644;refseq.end=132918166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2030;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S644S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=132918166;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr9 132926392 . C G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=96;Dels=0.00;HRun=3;HaplotypeScore=4.22;MQ=98.06;MQ0=0;OQ=3608.43;QD=37.59;RankSumP=1.00000;SB=-1488.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2308C>G;refseq.codonCoord=770;refseq.end=132926392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2406;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R770G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-40;refseq.start=132926392;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 132936730 . G A 314.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=95.02;MQ0=0;OQ=6228.20;QD=16.48;RankSumP=0.00596117;SB=-2238.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3108G>A;refseq.codonCoord=1036;refseq.end=132936730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3206;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1036G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=39;refseq.start=132936730;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 1/0 chr9 132936736 . C G 318.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=95.01;MQ0=0;OQ=7027.39;QD=20.19;RankSumP=0.0527798;SB=-2487.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3114C>G;refseq.codonCoord=1038;refseq.end=132936736;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3212;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1038L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=45;refseq.start=132936736;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr9 132937870 . A G 281.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=98.03;MQ0=0;OQ=2322.89;QD=37.47;RankSumP=1.00000;SB=-1002.07;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3244A>G;refseq.codonCoord=1082;refseq.end=132937870;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3342;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1082G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=33;refseq.start=132937870;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 132941051 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=14.49;MQ=97.25;MQ0=0;OQ=839.00;QD=9.53;RankSumP=0.463611;SB=-138.62;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.3507C>T;refseq.codonCoord=1169;refseq.end=132941051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3605;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1169T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=13;refseq.start=132941051;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr9 132952829 . G A 109.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=406.74;QD=14.03;RankSumP=0.444848;SB=-224.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4376G>A;refseq.codonCoord=1459;refseq.end=132952829;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4474;refseq.name=NM_006059;refseq.name2=LAMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1459Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=132952829;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr9 133009913 . C T 234.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2830.83;QD=15.38;RankSumP=0.426995;SB=-1092.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1720C>T;refseq.codonCoord=574;refseq.end=133009913;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_005085;refseq.name2=NUP214;refseq.positionType=CDS;refseq.proteinCoordStr=p.P574S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-50;refseq.start=133009913;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr9 133011451 . A G 221.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=98.55;MQ0=0;OQ=2394.12;QD=14.42;RankSumP=0.123559;SB=-911.12;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1884A>G;refseq.codonCoord=628;refseq.end=133011451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1995;refseq.name=NM_005085;refseq.name2=NUP214;refseq.positionType=CDS;refseq.proteinCoordStr=p.T628T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-62;refseq.start=133011451;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr9 133015606 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.80668e-09;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2115A>G;refseq.codonCoord=705;refseq.end=133015606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2226;refseq.name=NM_005085;refseq.name2=NUP214;refseq.positionType=CDS;refseq.proteinCoordStr=p.G705G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-13;refseq.start=133015606;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 133063692 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4990A>C;refseq.codonCoord=1664;refseq.end=133063692;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5101;refseq.name=NM_005085;refseq.name2=NUP214;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1664P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-532;refseq.start=133063692;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr9 133098687 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.6265C>G;refseq.codonCoord=2089;refseq.end=133098687;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6376;refseq.name=NM_005085;refseq.name2=NUP214;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2089G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=26;refseq.start=133098687;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr9 133126336 . A G 407.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.27;MQ0=0;OQ=2671.59;QD=38.72;RankSumP=1.00000;SB=-1296.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=133126336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=886;refseq.name=NM_033387;refseq.name2=FAM78A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N182N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=223;refseq.start=133126336;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr9 133126498 . A G 249.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.37;MQ0=0;OQ=2015.16;QD=32.50;RankSumP=1.00000;SB=-972.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.384T>C;refseq.codonCoord=128;refseq.end=133126498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_033387;refseq.name2=FAM78A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D128D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=61;refseq.start=133126498;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr9 133173200 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=19.31;MQ=97.93;MQ0=0;OQ=2681.21;QD=13.82;RankSumP=0.379852;SB=-741.00;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.521C>T;refseq.codonCoord=174;refseq.end=133173200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_032728;refseq.name2=PPAPDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T174M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=70;refseq.start=133173200;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr9 133173324 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=12.85;MQ=97.66;MQ0=0;OQ=2013.03;QD=12.13;RankSumP=0.0470312;SB=-1014.98;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.645T>C;refseq.codonCoord=215;refseq.end=133173324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_032728;refseq.name2=PPAPDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R215R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=194;refseq.start=133173324;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr9 133375257 . A G 304.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=4.86;MQ=98.88;MQ0=0;OQ=8645.05;QD=38.08;RankSumP=1.00000;SB=-1630.16;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_5=c.752A>G;refseq.codonCoord_5=251;refseq.end_1=133375457;refseq.end_2=133375457;refseq.end_3=133375457;refseq.end_4=133375457;refseq.end_5=133375257;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=954;refseq.name2_1=POMT1;refseq.name2_2=POMT1;refseq.name2_3=POMT1;refseq.name2_4=POMT1;refseq.name2_5=POMT1;refseq.name_1=NM_001077365;refseq.name_2=NM_001077366;refseq.name_3=NM_001136113;refseq.name_4=NM_001136114;refseq.name_5=NM_007171;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.Q251R;refseq.referenceAA_5=Gln;refseq.referenceCodon_5=CAG;refseq.spliceDist_5=-14;refseq.start_1=133375215;refseq.start_2=133375215;refseq.start_3=133375215;refseq.start_4=133375215;refseq.start_5=133375257;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Arg;refseq.variantCodon_5=CGG;set=Intersection GT 1/1 chr9 133376565 . T C 90.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=7.68;MQ=98.84;MQ0=0;OQ=17688.43;QD=39.22;RankSumP=1.00000;SB=-7566.07;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.876T>C;refseq.codingCoordStr_2=c.714T>C;refseq.codingCoordStr_3=c.876T>C;refseq.codingCoordStr_4=c.525T>C;refseq.codingCoordStr_5=c.942T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=238;refseq.codonCoord_3=292;refseq.codonCoord_4=175;refseq.codonCoord_5=314;refseq.end_1=133376565;refseq.end_2=133376565;refseq.end_3=133376565;refseq.end_4=133376565;refseq.end_5=133376565;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=926;refseq.mrnaCoord_3=1318;refseq.mrnaCoord_4=819;refseq.mrnaCoord_5=1144;refseq.name2_1=POMT1;refseq.name2_2=POMT1;refseq.name2_3=POMT1;refseq.name2_4=POMT1;refseq.name2_5=POMT1;refseq.name_1=NM_001077365;refseq.name_2=NM_001077366;refseq.name_3=NM_001136113;refseq.name_4=NM_001136114;refseq.name_5=NM_007171;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T292T;refseq.proteinCoordStr_2=p.T238T;refseq.proteinCoordStr_3=p.T292T;refseq.proteinCoordStr_4=p.T175T;refseq.proteinCoordStr_5=p.T314T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.spliceDist_5=21;refseq.start_1=133376565;refseq.start_2=133376565;refseq.start_3=133376565;refseq.start_4=133376565;refseq.start_5=133376565;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=Intersection GT 1/1 chr9 133377309 . T C 323.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.90;MQ0=0;OQ=9155.12;QD=35.08;RankSumP=1.00000;SB=-3024.08;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1047T>C;refseq.codingCoordStr_2=c.885T>C;refseq.codingCoordStr_3=c.1047T>C;refseq.codingCoordStr_4=c.696T>C;refseq.codingCoordStr_5=c.1113T>C;refseq.codonCoord_1=349;refseq.codonCoord_2=295;refseq.codonCoord_3=349;refseq.codonCoord_4=232;refseq.codonCoord_5=371;refseq.end_1=133377309;refseq.end_2=133377309;refseq.end_3=133377309;refseq.end_4=133377309;refseq.end_5=133377309;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1249;refseq.mrnaCoord_2=1097;refseq.mrnaCoord_3=1489;refseq.mrnaCoord_4=990;refseq.mrnaCoord_5=1315;refseq.name2_1=POMT1;refseq.name2_2=POMT1;refseq.name2_3=POMT1;refseq.name2_4=POMT1;refseq.name2_5=POMT1;refseq.name_1=NM_001077365;refseq.name_2=NM_001077366;refseq.name_3=NM_001136113;refseq.name_4=NM_001136114;refseq.name_5=NM_007171;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.D349D;refseq.proteinCoordStr_2=p.D295D;refseq.proteinCoordStr_3=p.D349D;refseq.proteinCoordStr_4=p.D232D;refseq.proteinCoordStr_5=p.D371D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.start_1=133377309;refseq.start_2=133377309;refseq.start_3=133377309;refseq.start_4=133377309;refseq.start_5=133377309;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 1/1 chr9 133380691 . C A 159.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=5.72;MQ=98.22;MQ0=0;OQ=2052.70;QD=13.33;RankSumP=0.167864;SB=-994.70;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.chr_5=chr9;refseq.codingCoordStr_1=c.1233C>A;refseq.codingCoordStr_2=c.1071C>A;refseq.codingCoordStr_3=c.1233C>A;refseq.codingCoordStr_4=c.882C>A;refseq.codingCoordStr_5=c.1299C>A;refseq.codonCoord_1=411;refseq.codonCoord_2=357;refseq.codonCoord_3=411;refseq.codonCoord_4=294;refseq.codonCoord_5=433;refseq.end_1=133380691;refseq.end_2=133380691;refseq.end_3=133380691;refseq.end_4=133380691;refseq.end_5=133380691;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1435;refseq.mrnaCoord_2=1283;refseq.mrnaCoord_3=1675;refseq.mrnaCoord_4=1176;refseq.mrnaCoord_5=1501;refseq.name2_1=POMT1;refseq.name2_2=POMT1;refseq.name2_3=POMT1;refseq.name2_4=POMT1;refseq.name2_5=POMT1;refseq.name_1=NM_001077365;refseq.name_2=NM_001077366;refseq.name_3=NM_001136113;refseq.name_4=NM_001136114;refseq.name_5=NM_007171;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.D411E;refseq.proteinCoordStr_2=p.D357E;refseq.proteinCoordStr_3=p.D411E;refseq.proteinCoordStr_4=p.D294E;refseq.proteinCoordStr_5=p.D433E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.spliceDist_5=-40;refseq.start_1=133380691;refseq.start_2=133380691;refseq.start_3=133380691;refseq.start_4=133380691;refseq.start_5=133380691;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;set=Intersection GT 1/0 chr9 133391156 . C A,T 99 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=26;DB;DP=509;Dels=0.00;HRun=0;HaplotypeScore=25.59;MQ=98.40;MQ0=0;OQ=18273.88;QD=35.90;RankSumP=0.266491;SB=-3724.96;SecondBestBaseQ=27;set=Intersection GT 1/2 chr9 134063698 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=293;Dels=0.00;HRun=2;HaplotypeScore=24.47;MQ=98.12;MQ0=0;OQ=4244.42;QD=14.49;RankSumP=0.269829;SB=-1394.84;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.738C>T;refseq.codonCoord=246;refseq.end=134063698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1514;refseq.name=NM_032536;refseq.name2=NTNG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F246F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-120;refseq.start=134063698;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr9 134092075 . C T 214.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=9.13;MQ=98.91;MQ0=0;OQ=1142.90;QD=16.56;RankSumP=0.0718676;SB=-323.87;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.876C>T;refseq.codonCoord=292;refseq.end=134092075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_032536;refseq.name2=NTNG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H292H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=19;refseq.start=134092075;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr9 134095785 . A G 111.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.18;MQ0=0;OQ=975.34;QD=29.56;RankSumP=1.00000;SB=-421.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1036A>G;refseq.codonCoord=346;refseq.end=134095785;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_032536;refseq.name2=NTNG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T346A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=134095785;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr9 134129722 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=96.59;MQ0=0;OQ=280.49;QD=10.79;RankSumP=0.268445;SB=-131.62;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.7759A>G;refseq.codonCoord=2587;refseq.end=134129722;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7942;refseq.name=NM_015046;refseq.name2=SETX;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2587V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=472;refseq.start=134129722;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr9 134192650 . T C 252.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=98.11;MQ0=0;OQ=13460.43;QD=38.46;RankSumP=1.00000;SB=-6522.96;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4156A>G;refseq.codonCoord=1386;refseq.end=134192650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4339;refseq.name=NM_015046;refseq.name2=SETX;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1386V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-1119;refseq.start=134192650;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr9 134193052 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=410;Dels=0.00;HRun=6;HaplotypeScore=10.96;MQ=98.65;MQ0=0;OQ=17137.78;QD=41.80;RankSumP=1.00000;SB=-7220.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3754G>A;refseq.codonCoord=1252;refseq.end=134193052;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3937;refseq.name=NM_015046;refseq.name2=SETX;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1252R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-1521;refseq.start=134193052;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 1/1 chr9 134193230 . A C 308.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.76;MQ0=0;OQ=8993.51;QD=41.25;RankSumP=1.00000;SB=-4319.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3576T>G;refseq.codonCoord=1192;refseq.end=134193230;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3759;refseq.name=NM_015046;refseq.name2=SETX;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1192E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-1699;refseq.start=134193230;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr9 134196281 . A G 386.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.48;MQ0=0;OQ=2378.08;QD=41.00;RankSumP=1.00000;SB=-862.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1077T>C;refseq.codonCoord=359;refseq.end=134196281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_015046;refseq.name2=SETX;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y359Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-22;refseq.start=134196281;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr9 134253394 . G T 299.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=98.76;MQ0=0;OQ=10693.82;QD=38.33;RankSumP=1.00000;SB=-5336.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2265C>A;refseq.codonCoord=755;refseq.end=134253394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2317;refseq.name=NM_007344;refseq.name2=TTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I755I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=43;refseq.start=134253394;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr9 134263428 . C G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=98.15;MQ0=0;OQ=12081.92;QD=48.52;RankSumP=1.00000;SB=-5156.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1698G>C;refseq.codonCoord=566;refseq.end=134263428;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1750;refseq.name=NM_007344;refseq.name2=TTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L566L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-80;refseq.start=134263428;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 134266828 . C T 165.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=9.94;MQ=98.70;MQ0=0;OQ=6524.86;QD=20.20;RankSumP=0.437517;SB=-2443.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1202G>A;refseq.codonCoord=401;refseq.end=134266828;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1254;refseq.name=NM_007344;refseq.name2=TTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R401Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-166;refseq.start=134266828;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr9 134364719 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.74;MQ0=0;OQ=1045.81;QD=12.02;RankSumP=0.168605;SB=-219.41;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.543T>C;refseq.codonCoord=181;refseq.end=134364719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_207417;refseq.name2=C9orf171;refseq.positionType=CDS;refseq.proteinCoordStr=p.N181N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-90;refseq.start=134364719;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr9 134448155 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.150G>C;refseq.codonCoord=50;refseq.end=134448155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_020064;refseq.name2=BARHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S50S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-317;refseq.start=134448155;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr9 134460235 . T C 376.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=98.67;MQ0=0;OQ=5653.82;QD=35.12;RankSumP=1.00000;SB=-2729.78;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2395A>G;refseq.codonCoord=799;refseq.end=134460235;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2547;refseq.name=NM_022779;refseq.name2=DDX31;refseq.positionType=CDS;refseq.proteinCoordStr=p.I799V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=86;refseq.start=134460235;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr9 134543365 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.538T>G;refseq.codonCoord=180;refseq.end=134543365;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_012204;refseq.name2=GTF3C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C180G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=181;refseq.start=134543365;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr9 134544387 . G A 218.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=98.98;MQ0=0;OQ=2095.75;QD=15.30;RankSumP=0.00774233;SB=-1033.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1560G>A;refseq.codonCoord=520;refseq.end=134544387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_012204;refseq.name2=GTF3C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E520E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-625;refseq.start=134544387;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/0 chr9 134853531 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=1.45922e-09;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.365C>G;refseq.codingCoordStr_2=c.365C>G;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=134853531;refseq.end_2=134853531;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=516;refseq.mrnaCoord_2=516;refseq.name2_1=GFI1B;refseq.name2_2=GFI1B;refseq.name_1=NM_001135031;refseq.name_2=NM_004188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A122G;refseq.proteinCoordStr_2=p.A122G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=127;refseq.spliceDist_2=127;refseq.start_1=134853531;refseq.start_2=134853531;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr9 134853536 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.370T>C;refseq.codingCoordStr_2=c.370T>C;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=134853536;refseq.end_2=134853536;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=521;refseq.mrnaCoord_2=521;refseq.name2_1=GFI1B;refseq.name2_2=GFI1B;refseq.name_1=NM_001135031;refseq.name_2=NM_004188;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S124P;refseq.proteinCoordStr_2=p.S124P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=132;refseq.spliceDist_2=132;refseq.start_1=134853536;refseq.start_2=134853536;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr9 134936420 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=92.73;MQ0=0;OQ=417.26;QD=14.90;RankSumP=0.664179;SB=-113.62;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1719C>T;refseq.codonCoord=573;refseq.end=134936420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1735;refseq.name=NM_001807;refseq.name2=CEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P573P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=226;refseq.start=134936420;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr9 134963900 . G C 135.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=98.73;MQ0=0;OQ=13166.70;QD=48.05;RankSumP=1.00000;SB=-6103.80;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2475C>G;refseq.codingCoordStr_2=c.2640C>G;refseq.codonCoord_1=825;refseq.codonCoord_2=880;refseq.end_1=134963900;refseq.end_2=134963900;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2696;refseq.mrnaCoord_2=2660;refseq.name2_1=RALGDS;refseq.name2_2=RALGDS;refseq.name_1=NM_001042368;refseq.name_2=NM_006266;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L825L;refseq.proteinCoordStr_2=p.L880L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=134963900;refseq.start_2=134963900;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr9 134963921 . G A 289.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=98.56;MQ0=0;OQ=11630.74;QD=41.54;RankSumP=1.00000;SB=-5817.81;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2454C>T;refseq.codingCoordStr_2=c.2619C>T;refseq.codonCoord_1=818;refseq.codonCoord_2=873;refseq.end_1=134963921;refseq.end_2=134963921;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2675;refseq.mrnaCoord_2=2639;refseq.name2_1=RALGDS;refseq.name2_2=RALGDS;refseq.name_1=NM_001042368;refseq.name_2=NM_006266;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T818T;refseq.proteinCoordStr_2=p.T873T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=134963921;refseq.start_2=134963921;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr9 135020434 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.311A>C;refseq.codonCoord=104;refseq.end=135020434;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_021996;refseq.name2=GBGT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y104S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-49;refseq.start=135020434;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr9 135027563 . G A 159.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=96.71;MQ0=0;OQ=1328.61;QD=17.25;RankSumP=0.416120;SB=-646.13;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.58C>T;refseq.codonCoord=20;refseq.end=135027563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_021996;refseq.name2=GBGT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L20F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-14;refseq.start=135027563;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr9 135073349 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=58.22;MQ0=19;OQ=240.49;QD=3.08;RankSumP=0.359726;SB=5.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.269A>T;refseq.codonCoord=90;refseq.end=135073349;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_014581;refseq.name2=OBP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y90F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=135073349;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr9 135073401 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=59.40;MQ0=50;OQ=1764.26;QD=9.49;RankSumP=0.241320;SB=-686.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.217A>C;refseq.codonCoord=73;refseq.end=135073401;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_014581;refseq.name2=OBP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R73R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=11;refseq.start=135073401;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr9 135073700 . C G 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.638925;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.183G>C;refseq.codonCoord=61;refseq.end=135073700;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_014581;refseq.name2=OBP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K61N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-24;refseq.start=135073700;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr9 135217081 . A G 278.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3642.89;QD=40.03;RankSumP=1.00000;SB=-798.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.637A>G;refseq.codonCoord=213;refseq.end=135217081;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_017503;refseq.name2=SURF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S213G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-51;refseq.start=135217081;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 135257859 . C T 269.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1439.07;QD=39.97;RankSumP=1.00000;SB=-553.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1371C>T;refseq.codonCoord=457;refseq.end=135257859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1432;refseq.name=NM_153710;refseq.name2=C9orf96;refseq.positionType=CDS;refseq.proteinCoordStr=p.N457N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=32;refseq.start=135257859;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr9 135267301 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=1145;Dels=0.00;HRun=1;HaplotypeScore=35.17;MQ=98.75;MQ0=0;OQ=43138.67;QD=37.68;RankSumP=1.00000;SB=-15668.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.849T>C;refseq.codonCoord=283;refseq.end=135267301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1049;refseq.name=NM_020385;refseq.name2=REXO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T283T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-62;refseq.start=135267301;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/1 chr9 135269946 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=8.90710e-07;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.232C>G;refseq.codonCoord_2=78;refseq.end_1=135278031;refseq.end_2=135269946;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=432;refseq.name2_1=ADAMTS13;refseq.name2_2=REXO4;refseq.name_1=NR_024514;refseq.name_2=NM_020385;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L78V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=135269596;refseq.start_2=135269946;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr9 135280884 . C T 219.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=99.00;MQ0=0;OQ=9293.20;QD=40.23;RankSumP=1.00000;SB=-2931.74;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.420C>T;refseq.codingCoordStr_3=c.420C>T;refseq.codingCoordStr_4=c.420C>T;refseq.codonCoord_2=140;refseq.codonCoord_3=140;refseq.codonCoord_4=140;refseq.end_1=135280884;refseq.end_2=135280884;refseq.end_3=135280884;refseq.end_4=135280884;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=864;refseq.mrnaCoord_3=864;refseq.mrnaCoord_4=864;refseq.name2_1=ADAMTS13;refseq.name2_2=ADAMTS13;refseq.name2_3=ADAMTS13;refseq.name2_4=ADAMTS13;refseq.name_1=NR_024514;refseq.name_2=NM_139025;refseq.name_3=NM_139026;refseq.name_4=NM_139027;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A140A;refseq.proteinCoordStr_3=p.A140A;refseq.proteinCoordStr_4=p.A140A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceDist_4=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.spliceInfo_4=splice-acceptor_6;refseq.start_1=135280884;refseq.start_2=135280884;refseq.start_3=135280884;refseq.start_4=135280884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr9 135294318 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=20.20;MQ=98.45;MQ0=0;OQ=16424.39;QD=35.32;RankSumP=1.00000;SB=-4710.18;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.1716A>G;refseq.codingCoordStr_3=c.1623A>G;refseq.codingCoordStr_4=c.1716A>G;refseq.codonCoord_2=572;refseq.codonCoord_3=541;refseq.codonCoord_4=572;refseq.end_1=135294318;refseq.end_2=135294318;refseq.end_3=135294318;refseq.end_4=135294318;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=2160;refseq.mrnaCoord_3=2067;refseq.mrnaCoord_4=2160;refseq.name2_1=ADAMTS13;refseq.name2_2=ADAMTS13;refseq.name2_3=ADAMTS13;refseq.name2_4=ADAMTS13;refseq.name_1=NR_024514;refseq.name_2=NM_139025;refseq.name_3=NM_139026;refseq.name_4=NM_139027;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T572T;refseq.proteinCoordStr_3=p.T541T;refseq.proteinCoordStr_4=p.T572T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.start_1=135294318;refseq.start_2=135294318;refseq.start_3=135294318;refseq.start_4=135294318;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/1 chr9 135298363 . C T 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=94.66;MQ0=0;OQ=1245.12;QD=27.07;RankSumP=1.00000;SB=-471.62;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_2=c.2280C>T;refseq.codingCoordStr_3=c.2187C>T;refseq.codingCoordStr_4=c.2280C>T;refseq.codonCoord_2=760;refseq.codonCoord_3=729;refseq.codonCoord_4=760;refseq.end_1=135299794;refseq.end_2=135298363;refseq.end_3=135298363;refseq.end_4=135298363;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=2724;refseq.mrnaCoord_3=2631;refseq.mrnaCoord_4=2724;refseq.name2_1=ADAMTS13;refseq.name2_2=ADAMTS13;refseq.name2_3=ADAMTS13;refseq.name2_4=ADAMTS13;refseq.name_1=NR_024514;refseq.name_2=NM_139025;refseq.name_3=NM_139026;refseq.name_4=NM_139027;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G760G;refseq.proteinCoordStr_3=p.G729G;refseq.proteinCoordStr_4=p.G760G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.start_1=135295478;refseq.start_2=135298363;refseq.start_3=135298363;refseq.start_4=135298363;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=Intersection GT 1/1 chr9 135315071 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.545455;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.62A>C;refseq.codingCoordStr_2=c.62A>C;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=135315071;refseq.end_2=135315071;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=164;refseq.mrnaCoord_2=164;refseq.name2_1=C9orf7;refseq.name2_2=C9orf7;refseq.name_1=NM_001135775;refseq.name_2=NM_017586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E21A;refseq.proteinCoordStr_2=p.E21A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=135315071;refseq.start_2=135315071;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 0/1 chr9 135318478 . T C 142.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=513;Dels=0.00;HRun=0;HaplotypeScore=14.07;MQ=98.70;MQ0=0;OQ=18431.14;QD=35.93;RankSumP=1.00000;SB=-7426.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.174T>C;refseq.codingCoordStr_2=c.174T>C;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=135318478;refseq.end_2=135318478;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=276;refseq.mrnaCoord_2=276;refseq.name2_1=C9orf7;refseq.name2_2=C9orf7;refseq.name_1=NM_001135775;refseq.name_2=NM_017586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I58I;refseq.proteinCoordStr_2=p.I58I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=135318478;refseq.start_2=135318478;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr9 135330021 . T G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=49;Dels=0.00;HRun=4;HaplotypeScore=4.33;MQ=96.23;MQ0=0;OQ=1631.66;QD=33.30;RankSumP=1.00000;SB=-834.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.810A>C;refseq.codingCoordStr_2=c.810A>C;refseq.codonCoord_1=270;refseq.codonCoord_2=270;refseq.end_1=135330021;refseq.end_2=135330021;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=905;refseq.mrnaCoord_2=905;refseq.name2_1=SLC2A6;refseq.name2_2=SLC2A6;refseq.name_1=NM_001145099;refseq.name_2=NM_017585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P270P;refseq.proteinCoordStr_2=p.P270P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=135330021;refseq.start_2=135330021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr9 135369711 . A G 281.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=2252.62;QD=37.54;RankSumP=1.00000;SB=-988.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.534T>C;refseq.codonCoord=178;refseq.end=135369711;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_001080483;refseq.name2=TMEM8C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y178Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=18;refseq.start=135369711;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr9 135401991 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=9.68;MQ=97.17;MQ0=0;OQ=4372.31;QD=28.39;RankSumP=1.00000;SB=-2150.32;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.774C>T;refseq.codingCoordStr_2=c.774C>T;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.end_1=135401991;refseq.end_2=135401991;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1331;refseq.mrnaCoord_2=989;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D258D;refseq.proteinCoordStr_2=p.D258D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=135401991;refseq.start_2=135401991;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr9 135402057 . A T 361.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=98.28;MQ0=0;OQ=6417.89;QD=39.37;RankSumP=1.00000;SB=-2232.17;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.840A>T;refseq.codingCoordStr_2=c.840A>T;refseq.codonCoord_1=280;refseq.codonCoord_2=280;refseq.end_1=135402057;refseq.end_2=135402057;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1055;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A280A;refseq.proteinCoordStr_2=p.A280A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=135402057;refseq.start_2=135402057;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr9 135402076 . A C 131.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.55;MQ0=0;OQ=4354.86;QD=34.56;RankSumP=1.00000;SB=-1319.21;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.859A>C;refseq.codingCoordStr_2=c.859A>C;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=135402076;refseq.end_2=135402076;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1416;refseq.mrnaCoord_2=1074;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R287R;refseq.proteinCoordStr_2=p.R287R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=135402076;refseq.start_2=135402076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr9 135402117 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.92;MQ0=0;OQ=1056.66;QD=13.72;RankSumP=0.336584;SB=-173.64;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.900C>T;refseq.codingCoordStr_2=c.900C>T;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=135402117;refseq.end_2=135402117;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1457;refseq.mrnaCoord_2=1115;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I300I;refseq.proteinCoordStr_2=p.I300I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=135402117;refseq.start_2=135402117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr9 135409518 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.145833;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1158C>T;refseq.codingCoordStr_2=c.1158C>T;refseq.codonCoord_1=386;refseq.codonCoord_2=386;refseq.end_1=135409518;refseq.end_2=135409518;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1373;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F386F;refseq.proteinCoordStr_2=p.F386F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-119;refseq.spliceDist_2=-119;refseq.start_1=135409518;refseq.start_2=135409518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr9 135409541 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.350000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1181A>G;refseq.codingCoordStr_2=c.1181A>G;refseq.codonCoord_1=394;refseq.codonCoord_2=394;refseq.end_1=135409541;refseq.end_2=135409541;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1738;refseq.mrnaCoord_2=1396;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E394G;refseq.proteinCoordStr_2=p.E394G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-96;refseq.spliceDist_2=-96;refseq.start_1=135409541;refseq.start_2=135409541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr9 135423363 . C T 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.0332718;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2022C>T;refseq.codingCoordStr_2=c.2022C>T;refseq.codonCoord_1=674;refseq.codonCoord_2=674;refseq.end_1=135423363;refseq.end_2=135423363;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2579;refseq.mrnaCoord_2=2237;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P674P;refseq.proteinCoordStr_2=p.P674P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=135423363;refseq.start_2=135423363;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=soap GT 0/1 chr9 135424419 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2313A>G;refseq.codingCoordStr_2=c.2313A>G;refseq.codonCoord_1=771;refseq.codonCoord_2=771;refseq.end_1=135424419;refseq.end_2=135424419;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2870;refseq.mrnaCoord_2=2528;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V771V;refseq.proteinCoordStr_2=p.V771V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=135424419;refseq.start_2=135424419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 1/1 chr9 135428806 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.133836;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2613G>A;refseq.codingCoordStr_2=c.2613G>A;refseq.codonCoord_1=871;refseq.codonCoord_2=871;refseq.end_1=135428806;refseq.end_2=135428806;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3170;refseq.mrnaCoord_2=2828;refseq.name2_1=ADAMTSL2;refseq.name2_2=ADAMTSL2;refseq.name_1=NM_001145320;refseq.name_2=NM_014694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V871V;refseq.proteinCoordStr_2=p.V871V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=135428806;refseq.start_2=135428806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=soap GT 1/0 chr9 135494935 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=12.10;MQ=98.84;MQ0=0;OQ=1425.39;QD=8.85;RankSumP=0.177881;SB=-622.41;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.486A>G;refseq.codonCoord=162;refseq.end=135494935;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_000787;refseq.name2=DBH;refseq.positionType=CDS;refseq.proteinCoordStr=p.E162E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=135494935;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr9 135507918 . A G 230.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=5.86;MQ=98.85;MQ0=0;OQ=5170.86;QD=15.72;RankSumP=0.401141;SB=-1800.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1410A>G;refseq.codonCoord=470;refseq.end=135507918;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1419;refseq.name=NM_000787;refseq.name2=DBH;refseq.positionType=CDS;refseq.proteinCoordStr=p.T470T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-25;refseq.start=135507918;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr9 135563233 . G A 187.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=98.90;MQ0=0;OQ=1047.47;QD=18.70;RankSumP=0.180919;SB=-187.69;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1467C>T;refseq.codingCoordStr_2=c.1467C>T;refseq.codonCoord_1=489;refseq.codonCoord_2=489;refseq.end_1=135563233;refseq.end_2=135563233;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1601;refseq.mrnaCoord_2=1760;refseq.name2_1=SARDH;refseq.name2_2=SARDH;refseq.name_1=NM_001134707;refseq.name_2=NM_007101;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H489H;refseq.proteinCoordStr_2=p.H489H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=135563233;refseq.start_2=135563233;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr9 135588967 . C T 187.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=98.66;MQ0=0;OQ=2106.64;QD=15.16;RankSumP=0.149671;SB=-792.77;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.150G>A;refseq.codingCoordStr_2=c.150G>A;refseq.codonCoord_1=50;refseq.codonCoord_2=50;refseq.end_1=135588967;refseq.end_2=135588967;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=443;refseq.name2_1=SARDH;refseq.name2_2=SARDH;refseq.name_1=NM_001134707;refseq.name_2=NM_007101;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q50Q;refseq.proteinCoordStr_2=p.Q50Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=180;refseq.spliceDist_2=180;refseq.start_1=135588967;refseq.start_2=135588967;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr9 135625336 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.99338e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2332T>C;refseq.codingCoordStr_2=c.2302T>C;refseq.codonCoord_1=778;refseq.codonCoord_2=768;refseq.end_1=135625336;refseq.end_2=135625336;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2378;refseq.mrnaCoord_2=2348;refseq.name2_1=VAV2;refseq.name2_2=VAV2;refseq.name_1=NM_001134398;refseq.name_2=NM_003371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S778P;refseq.proteinCoordStr_2=p.S768P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=135625336;refseq.start_2=135625336;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr9 135633815 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=13.81;MQ=98.91;MQ0=0;OQ=1392.11;QD=11.41;RankSumP=0.0777409;SB=-673.52;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1780A>G;refseq.codingCoordStr_2=c.1750A>G;refseq.codonCoord_1=594;refseq.codonCoord_2=584;refseq.end_1=135633815;refseq.end_2=135633815;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1826;refseq.mrnaCoord_2=1796;refseq.name2_1=VAV2;refseq.name2_2=VAV2;refseq.name_1=NM_001134398;refseq.name_2=NM_003371;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M594V;refseq.proteinCoordStr_2=p.M584V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=135633815;refseq.start_2=135633815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr9 135896826 . G A 116.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=98.46;MQ0=0;OQ=1380.43;QD=14.53;RankSumP=0.0828834;SB=-530.98;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1284C>T;refseq.codonCoord=428;refseq.end=135896826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_007371;refseq.name2=BRD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P428P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=69;refseq.start=135896826;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr9 135903176 . T C 434.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.07;MQ0=0;OQ=3430.68;QD=37.70;RankSumP=1.00000;SB=-1278.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.936A>G;refseq.codonCoord=312;refseq.end=135903176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_007371;refseq.name2=BRD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L312L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-151;refseq.start=135903176;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr9 135905368 . A G 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500016;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=135905368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_007371;refseq.name2=BRD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P221P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-52;refseq.start=135905368;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr9 135908215 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.206A>C;refseq.codonCoord=69;refseq.end=135908215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_007371;refseq.name2=BRD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N69T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=135908215;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 135994844 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.68;MQ0=0;OQ=460.50;QD=15.35;RankSumP=0.265456;SB=-114.95;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.24C>T;refseq.codingCoordStr_2=c.24C>T;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=135994844;refseq.end_2=135994844;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=110;refseq.name2_1=WDR5;refseq.name2_2=WDR5;refseq.name_1=NM_017588;refseq.name_2=NM_052821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P8P;refseq.proteinCoordStr_2=p.P8P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=135994844;refseq.start_2=135994844;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr9 136440684 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.508A>C;refseq.codonCoord=170;refseq.end=136440684;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_002957;refseq.name2=RXRA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T170P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=78;refseq.start=136440684;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 136847655 . G A 330.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.43;MQ0=0;OQ=6212.84;QD=21.80;RankSumP=0.0476584;SB=-2128.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4122G>A;refseq.codonCoord=1374;refseq.end=136847655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4504;refseq.name=NM_000093;refseq.name2=COL5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1374T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=136847655;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr9 136851818 . G C 65.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=3.52;MQ=97.92;MQ0=0;OQ=3938.18;QD=44.75;RankSumP=1.00000;SB=-1717.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4482G>C;refseq.codonCoord=1494;refseq.end=136851818;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4864;refseq.name=NM_000093;refseq.name2=COL5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1494P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=36;refseq.start=136851818;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 136918847 . C T 121.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=591;Dels=0.00;HRun=0;HaplotypeScore=7.53;MQ=98.78;MQ0=0;OQ=11971.83;QD=20.26;RankSumP=0.475805;SB=-4086.20;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.707C>T;refseq.codingCoordStr_2=c.593C>T;refseq.codonCoord_1=236;refseq.codonCoord_2=198;refseq.end_1=136918847;refseq.end_2=136918847;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=717;refseq.mrnaCoord_2=603;refseq.name2_1=FCN2;refseq.name2_2=FCN2;refseq.name_1=NM_004108;refseq.name_2=NM_015837;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T236M;refseq.proteinCoordStr_2=p.T198M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=136918847;refseq.start_2=136918847;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr9 136941621 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=2;HaplotypeScore=4.32;MQ=98.91;MQ0=0;OQ=9860.46;QD=41.26;RankSumP=1.00000;SB=-4402.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.825A>G;refseq.codonCoord=275;refseq.end=136941621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_002003;refseq.name2=FCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q275Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=92;refseq.start=136941621;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr9 136944181 . A G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=97.50;MQ0=0;OQ=2492.54;QD=25.70;RankSumP=1.00000;SB=-818.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.570T>C;refseq.codonCoord=190;refseq.end=136944181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_002003;refseq.name2=FCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N190N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-29;refseq.start=136944181;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr9 136948031 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=2.66142e-09;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.201T>G;refseq.codonCoord=67;refseq.end=136948031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_002003;refseq.name2=FCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G67G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-17;refseq.start=136948031;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr9 137121948 . T C 103.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=1.53;MQ=98.01;MQ0=0;OQ=4114.20;QD=36.09;RankSumP=1.00000;SB=-1965.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.183T>C;refseq.codingCoordStr_2=c.183T>C;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=137121948;refseq.end_2=137121948;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=633;refseq.mrnaCoord_2=647;refseq.name2_1=OLFM1;refseq.name2_2=OLFM1;refseq.name_1=NM_006334;refseq.name_2=NM_014279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A61A;refseq.proteinCoordStr_2=p.A61A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=137121948;refseq.start_2=137121948;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr9 137518677 . A G 304.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=10.08;MQ=94.39;MQ0=0;OQ=4830.56;QD=16.21;RankSumP=0.436607;SB=-1466.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2500A>G;refseq.codonCoord=834;refseq.end=137518677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3049;refseq.name=NM_014811;refseq.name2=KIAA0649;refseq.positionType=CDS;refseq.proteinCoordStr=p.N834D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1884;refseq.start=137518677;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr9 137518823 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=96.68;MQ0=0;OQ=529.38;QD=12.03;RankSumP=0.439122;SB=-85.94;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2646T>G;refseq.codonCoord=882;refseq.end=137518823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3195;refseq.name=NM_014811;refseq.name2=KIAA0649;refseq.positionType=CDS;refseq.proteinCoordStr=p.P882P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-1738;refseq.start=137518823;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr9 137553194 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.300856;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.30T>C;refseq.codonCoord=10;refseq.end=137553194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_002297;refseq.name2=LCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L10L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-61;refseq.start=137553194;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr9 137579627 . C T 147.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=85;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.87;MQ0=0;OQ=3289.87;QD=38.70;RankSumP=1.00000;SB=-854.63;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.367C>T;refseq.codonCoord=123;refseq.end=137579627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R123C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-22;refseq.start=137579627;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr9 137579630 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.84;MQ0=0;OQ=3181.92;QD=38.34;RankSumP=1.00000;SB=-787.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.370T>C;refseq.codonCoord=124;refseq.end=137579630;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y124H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-19;refseq.start=137579630;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr9 137580375 . G C 167.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.64;MQ0=0;OQ=1877.98;QD=44.71;RankSumP=1.00000;SB=-480.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.389G>C;refseq.codonCoord=130;refseq.end=137580375;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G130A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=137580375;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr9 137580383 . C T 167.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=92.65;MQ0=0;OQ=2067.04;QD=41.34;RankSumP=1.00000;SB=-680.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.397C>T;refseq.codonCoord=133;refseq.end=137580383;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=137580383;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr9 137580445 . G C 118.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=90.12;MQ0=2;OQ=3806.93;QD=45.32;RankSumP=1.00000;SB=-1594.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.459G>C;refseq.codonCoord=153;refseq.end=137580445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S153S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-32;refseq.start=137580445;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr9 137580462 . T C 360.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.03;MQ0=2;OQ=2810.78;QD=36.04;RankSumP=1.00000;SB=-1414.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.476T>C;refseq.codonCoord=159;refseq.end=137580462;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_014582;refseq.name2=OBP2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M159T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-15;refseq.start=137580462;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr9 137655812 . A G 265.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.79;MQ0=0;OQ=5112.34;QD=18.73;RankSumP=0.223025;SB=-1923.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.783T>C;refseq.codonCoord=261;refseq.end=137655812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_182974;refseq.name2=GLT6D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T261T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-490;refseq.start=137655812;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr9 137655949 . C T 175.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=4.71;MQ=98.67;MQ0=0;OQ=5008.06;QD=17.15;RankSumP=0.0819794;SB=-1711.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.646G>A;refseq.codonCoord=216;refseq.end=137655949;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_182974;refseq.name2=GLT6D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A216T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=389;refseq.start=137655949;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr9 137657734 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr9;refseq.codingCoordStr=c.257+2;refseq.end=137657734;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_182974;refseq.name2=GLT6D1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=137657734;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr9 137657831 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=208;Dels=0.00;HRun=2;HaplotypeScore=22.81;MQ=98.20;MQ0=0;OQ=5109.47;QD=24.56;RankSumP=1.00000;SB=-435.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.162T>C;refseq.codonCoord=54;refseq.end=137657831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_182974;refseq.name2=GLT6D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=43;refseq.start=137657831;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 137657836 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.157G>C;refseq.codonCoord=53;refseq.end=137657836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_182974;refseq.name2=GLT6D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=38;refseq.start=137657836;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr9 137726019 . G A 224.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.98;MQ0=0;OQ=1861.53;QD=41.37;RankSumP=1.00000;SB=-250.32;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.981C>T;refseq.codonCoord_2=327;refseq.end_1=137726043;refseq.end_2=137726019;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1042;refseq.name2_1=SOHLH1;refseq.name2_2=SOHLH1;refseq.name_1=NM_001101677;refseq.name_2=NM_001012415;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P327P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=106;refseq.start_1=137725492;refseq.start_2=137726019;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr9 137726787 . G A 126.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=99.00;MQ0=0;OQ=1404.71;QD=31.93;RankSumP=1.00000;SB=-438.53;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.805C>T;refseq.codingCoordStr_2=c.805C>T;refseq.codonCoord_1=269;refseq.codonCoord_2=269;refseq.end_1=137726787;refseq.end_2=137726787;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=866;refseq.mrnaCoord_2=866;refseq.name2_1=SOHLH1;refseq.name2_2=SOHLH1;refseq.name_1=NM_001012415;refseq.name_2=NM_001101677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P269S;refseq.proteinCoordStr_2=p.P269S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=137726787;refseq.start_2=137726787;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr9 137726788 . C A 53.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=99.00;MQ0=0;OQ=1318.08;QD=29.29;RankSumP=1.00000;SB=-401.26;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.804G>T;refseq.codingCoordStr_2=c.804G>T;refseq.codonCoord_1=268;refseq.codonCoord_2=268;refseq.end_1=137726788;refseq.end_2=137726788;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=865;refseq.mrnaCoord_2=865;refseq.name2_1=SOHLH1;refseq.name2_2=SOHLH1;refseq.name_1=NM_001012415;refseq.name_2=NM_001101677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G268G;refseq.proteinCoordStr_2=p.G268G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=137726788;refseq.start_2=137726788;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr9 137730749 . C T 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=94.47;MQ0=0;OQ=547.53;QD=28.82;RankSumP=1.00000;SB=-171.71;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.110G>A;refseq.codingCoordStr_2=c.110G>A;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=137730749;refseq.end_2=137730749;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=171;refseq.mrnaCoord_2=171;refseq.name2_1=SOHLH1;refseq.name2_2=SOHLH1;refseq.name_1=NM_001012415;refseq.name_2=NM_001101677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R37Q;refseq.proteinCoordStr_2=p.R37Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=137730749;refseq.start_2=137730749;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr9 137731087 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=3;HaplotypeScore=10.72;MQ=97.04;MQ0=0;OQ=3067.96;QD=37.88;RankSumP=1.00000;SB=-1528.26;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.48T>C;refseq.codingCoordStr_2=c.48T>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=137731087;refseq.end_2=137731087;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=109;refseq.mrnaCoord_2=109;refseq.name2_1=SOHLH1;refseq.name2_2=SOHLH1;refseq.name_1=NM_001012415;refseq.name_2=NM_001101677;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P16P;refseq.proteinCoordStr_2=p.P16P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=137731087;refseq.start_2=137731087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr9 137809082 . G A 372.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=7592.91;QD=41.49;RankSumP=1.00000;SB=-3751.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2427G>A;refseq.codonCoord=809;refseq.end=137809082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2501;refseq.name=NM_020822;refseq.name2=KCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T809T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=78;refseq.start=137809082;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr9 137815731 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2882G>C;refseq.codonCoord=961;refseq.end=137815731;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2956;refseq.name=NM_020822;refseq.name2=KCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R961P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=41;refseq.start=137815731;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 137819784 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr=chr9;refseq.end=137823453;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_020822;refseq.name2=KCNT1;refseq.positionType=intron;refseq.start=137818199;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr9 137823805 . A G 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=75;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=97.58;MQ0=0;OQ=286.73;QD=3.82;RankSumP=0.435121;SB=-125.17;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3685A>G;refseq.codonCoord=1229;refseq.end=137823805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3759;refseq.name=NM_020822;refseq.name2=KCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1229A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=98;refseq.start=137823805;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 0/1 chr9 137970015 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.976C>G;refseq.codonCoord=326;refseq.end=137970015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L326V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=13;refseq.start=137970015;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr9 137976764 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=6.16897e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.807G>C;refseq.codonCoord=269;refseq.end=137976764;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E269D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-70;refseq.start=137976764;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr9 137976767 . C A 59 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=4.73905e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.804G>T;refseq.codonCoord=268;refseq.end=137976767;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E268D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-73;refseq.start=137976767;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr9 137976770 . A G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=0;RankSumP=0.344076;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.801T>C;refseq.codonCoord=267;refseq.end=137976770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D267D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-76;refseq.start=137976770;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 0/1 chr9 137977961 . T C 100.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=12.40;MQ=98.84;MQ0=0;OQ=11403.77;QD=38.92;RankSumP=1.00000;SB=-4041.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.519A>G;refseq.codonCoord=173;refseq.end=137977961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A173A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-26;refseq.start=137977961;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 137992747 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.83A>G;refseq.codonCoord=28;refseq.end=137992747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_016172;refseq.name2=UBAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E28G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-56;refseq.start=137992747;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 138043366 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=95.76;MQ0=0;OQ=353.92;QD=10.41;RankSumP=0.670677;SB=-111.60;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1581C>T;refseq.codonCoord=527;refseq.end=138043366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1737;refseq.name=NM_144653;refseq.name2=NACC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D527D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=326;refseq.start=138043366;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr9 138043492 . A G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=96.79;MQ0=0;OQ=255.81;QD=25.58;RankSumP=1.00000;SB=-72.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1455T>C;refseq.codonCoord=485;refseq.end=138043492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1611;refseq.name=NM_144653;refseq.name2=NACC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P485P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=200;refseq.start=138043492;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 138044957 . C T 96.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=97.01;MQ0=0;OQ=6367.90;QD=34.42;RankSumP=1.00000;SB=-653.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1164G>A;refseq.codonCoord=388;refseq.end=138044957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_144653;refseq.name2=NACC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T388T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=138044957;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr9 138255485 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.620G>C;refseq.codonCoord=207;refseq.end=138255485;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_181701;refseq.name2=QSOX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G207A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=36;refseq.start=138255485;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr9 138355236 . C T 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=88.37;QD=8.03;RankSumP=0.302098;SB=-34.63;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1172C>T;refseq.codingCoordStr_2=c.1172C>T;refseq.codonCoord_1=391;refseq.codonCoord_2=391;refseq.end_1=138355236;refseq.end_2=138355236;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1392;refseq.mrnaCoord_2=1392;refseq.name2_1=GPSM1;refseq.name2_2=GPSM1;refseq.name_1=NM_001145638;refseq.name_2=NM_015597;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S391L;refseq.proteinCoordStr_2=p.S391L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-36;refseq.spliceDist_2=89;refseq.start_1=138355236;refseq.start_2=138355236;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 0/1 chr9 138372316 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=32.39;MQ=98.24;MQ0=0;OQ=3103.32;QD=11.37;RankSumP=0.320554;SB=-543.03;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1851G>A;refseq.codingCoordStr_2=c.324G>A;refseq.codonCoord_1=617;refseq.codonCoord_2=108;refseq.end_1=138372316;refseq.end_2=138372316;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2071;refseq.mrnaCoord_2=495;refseq.name2_1=GPSM1;refseq.name2_2=GPSM1;refseq.name_1=NM_001145638;refseq.name_2=NM_001145639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P617P;refseq.proteinCoordStr_2=p.P108P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=138372316;refseq.start_2=138372316;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr9 138390722 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.07;MQ0=0;OQ=1561.20;QD=16.79;RankSumP=0.406666;SB=-737.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.4317C>T;refseq.codonCoord=1439;refseq.end=138390722;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4326;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1439S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=33;refseq.start=138390722;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr9 138391836 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4264A>C;refseq.codonCoord=1422;refseq.end=138391836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4273;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1422P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-21;refseq.start=138391836;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr9 138391866 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=144;Dels=0.00;HRun=2;HaplotypeScore=21.75;MQ=95.66;MQ0=0;OQ=1459.66;QD=10.14;RankSumP=0.103716;SB=-290.27;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4234G>T;refseq.codonCoord=1412;refseq.end=138391866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4243;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1412S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-51;refseq.start=138391866;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 1/0 chr9 138392695 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=8.09290e-06;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.3405G>C;refseq.codonCoord=1135;refseq.end=138392695;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3414;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1135H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=878;refseq.start=138392695;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr9 138393223 . C T 195.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=987.67;QD=35.27;RankSumP=1.00000;SB=-282.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2877G>A;refseq.codonCoord=959;refseq.end=138393223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2886;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A959A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=350;refseq.start=138393223;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr9 138402740 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1100G>C;refseq.codonCoord=367;refseq.end=138402740;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_003086;refseq.name2=SNAPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G367A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-24;refseq.start=138402740;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr9 138428894 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.506A>G;refseq.codonCoord=169;refseq.end=138428894;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_015160;refseq.name2=PMPCA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D169G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-27;refseq.start=138428894;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr9 138444665 . G A 11.56 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=97.00;MQ0=0;QD=0.72;SB=-30.48;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1687C>T;refseq.codonCoord=563;refseq.end=138444665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2072;refseq.name=NM_019892;refseq.name2=INPP5E;refseq.positionType=CDS;refseq.proteinCoordStr=p.R563C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=22;refseq.start=138444665;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:14,2:15:-8.93,-4.52,-49.26:44.09 chr9 138446140 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=96.11;MQ0=0;OQ=926.03;QD=15.97;RankSumP=0.284071;SB=-152.60;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1506G>A;refseq.codonCoord=502;refseq.end=138446140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1891;refseq.name=NM_019892;refseq.name2=INPP5E;refseq.positionType=CDS;refseq.proteinCoordStr=p.P502P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-44;refseq.start=138446140;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr9 138453224 . C A 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.93;MQ0=0;OQ=58.38;QD=7.30;RankSumP=0.642857;SB=-39.36;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.469G>T;refseq.codonCoord=157;refseq.end=138453224;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_019892;refseq.name2=INPP5E;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-344;refseq.start=138453224;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr9 138511457 . G A 308.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.03;MQ0=0;OQ=7005.09;QD=38.07;RankSumP=1.00000;SB=-3286.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.6555C>T;refseq.codonCoord=2185;refseq.end=138511457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6555;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2185D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=375;refseq.start=138511457;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr9 138517528 . G A 178.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.56;MQ0=0;OQ=4826.86;QD=33.52;RankSumP=1.00000;SB=-1249.15;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.5094C>T;refseq.codonCoord=1698;refseq.end=138517528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5094;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1698D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-74;refseq.start=138517528;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr9 138520120 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=49;Dels=0.00;HRun=1;HaplotypeScore=10.72;MQ=96.18;MQ0=0;OQ=620.68;QD=12.67;RankSumP=0.641001;SB=-142.50;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.4049G>T;refseq.codonCoord=1350;refseq.end=138520120;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4049;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1350L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=35;refseq.start=138520120;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr9 138527753 . A G 249.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.64;MQ0=0;OQ=2533.36;QD=16.34;RankSumP=0.333917;SB=-1130.88;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2265T>C;refseq.codonCoord=755;refseq.end=138527753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2265;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N755N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=58;refseq.start=138527753;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr9 138528856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=1.22600e-05;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2134A>C;refseq.codonCoord=712;refseq.end=138528856;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2134;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T712P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-74;refseq.start=138528856;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 138528889 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2101A>C;refseq.codonCoord=701;refseq.end=138528889;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2101;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T701P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=87;refseq.start=138528889;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 138528936 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2054A>C;refseq.codonCoord=685;refseq.end=138528936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2054;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N685T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=40;refseq.start=138528936;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 138532918 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1045A>C;refseq.codonCoord=349;refseq.end=138532918;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=138532918;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 138532921 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1042G>C;refseq.codonCoord=348;refseq.end=138532921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1042;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A348P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-58;refseq.start=138532921;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 138533032 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DP=223;Dels=0.00;HRun=2;HaplotypeScore=119.11;MQ=95.02;MQ0=0;OQ=85.05;QD=0.38;RankSumP=0.217798;SB=20.04;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.931A>C;refseq.codonCoord=311;refseq.end=138533032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T311P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=66;refseq.start=138533032;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr9 138533033 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=0;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.930G>C;refseq.codonCoord=310;refseq.end=138533033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G310G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=65;refseq.start=138533033;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr9 138533742 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.839A>C;refseq.codonCoord=280;refseq.end=138533742;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N280T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-27;refseq.start=138533742;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr9 138538081 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=7.67;MQ=98.36;MQ0=0;OQ=508.96;QD=7.48;RankSumP=0.407230;SB=-209.55;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.312T>C;refseq.codonCoord=104;refseq.end=138538081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_017617;refseq.name2=NOTCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N104N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-92;refseq.start=138538081;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr9 138684489 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.00;MQ0=0;OQ=589.29;QD=10.52;RankSumP=0.551982;SB=-131.57;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.457G>A;refseq.codingCoordStr_2=c.457G>A;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=138684489;refseq.end_2=138684489;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=772;refseq.mrnaCoord_2=774;refseq.name2_1=EGFL7;refseq.name2_2=EGFL7;refseq.name_1=NM_016215;refseq.name_2=NM_201446;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V153I;refseq.proteinCoordStr_2=p.V153I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=138684489;refseq.start_2=138684489;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr9 138691816 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.196T>G;refseq.codingCoordStr_2=c.196T>G;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.end_1=138691816;refseq.end_2=138691816;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=298;refseq.mrnaCoord_2=298;refseq.name2_1=AGPAT2;refseq.name2_2=AGPAT2;refseq.name_1=NM_001012727;refseq.name_2=NM_006412;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F66V;refseq.proteinCoordStr_2=p.F66V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=138691816;refseq.start_2=138691816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr9 138736563 . A G 126.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.79;MQ0=0;OQ=1915.92;QD=33.61;RankSumP=1.00000;SB=-667.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.472A>G;refseq.codonCoord=158;refseq.end=138736563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_152421;refseq.name2=FAM69B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S158G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-12;refseq.start=138736563;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 138737447 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=241.74;QD=10.07;RankSumP=0.550251;SB=-115.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.696G>A;refseq.codonCoord=232;refseq.end=138737447;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_152421;refseq.name2=FAM69B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E232E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=213;refseq.start=138737447;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr9 138737483 . T C 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.18;MQ0=0;OQ=341.77;QD=21.36;RankSumP=1.00000;SB=-101.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.732T>C;refseq.codonCoord=244;refseq.end=138737483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_152421;refseq.name2=FAM69B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L244L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=249;refseq.start=138737483;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr9 138737657 . C T 99.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=15.33;MQ=97.47;MQ0=0;OQ=2322.55;QD=12.98;RankSumP=0.00152918;SB=-972.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.906C>T;refseq.codonCoord=302;refseq.end=138737657;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_152421;refseq.name2=FAM69B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N302N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=423;refseq.start=138737657;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 0/1 chr9 138740458 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=136;Dels=0.00;HRun=1;HaplotypeScore=4.70;MQ=98.31;MQ0=0;OQ=2267.55;QD=16.67;RankSumP=0.330652;SB=-1124.59;SecondBestBaseQ=29;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.end_1=138740573;refseq.end_2=138740573;refseq.end_3=138740458;refseq.end_4=138740458;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.mrnaCoord_3=53;refseq.mrnaCoord_4=1206;refseq.name2_1=SNHG7;refseq.name2_2=SNHG7;refseq.name2_3=SNORA43;refseq.name2_4=SNHG7;refseq.name_1=NR_024542;refseq.name_2=NR_024543;refseq.name_3=NR_002975;refseq.name_4=NR_003672;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.spliceDist_3=53;refseq.spliceDist_4=902;refseq.start_1=138739394;refseq.start_2=138739394;refseq.start_3=138740458;refseq.start_4=138740458;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=Intersection GT 1/0 chr9 138776491 . T C 152.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.58;MQ0=0;OQ=1007.75;QD=31.49;RankSumP=1.00000;SB=-282.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.490A>G;refseq.codonCoord=164;refseq.end=138776491;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_203347;refseq.name2=LCN15;refseq.positionType=CDS;refseq.proteinCoordStr=p.K164E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-31;refseq.start=138776491;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr9 138776527 . A C 199.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=1110.52;QD=35.82;RankSumP=1.00000;SB=-470.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.454T>G;refseq.codonCoord=152;refseq.end=138776527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_203347;refseq.name2=LCN15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S152A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=36;refseq.start=138776527;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr9 138777655 . G C 309.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=98.83;MQ0=0;OQ=6646.52;QD=42.33;RankSumP=1.00000;SB=-1286.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.393C>G;refseq.codonCoord=131;refseq.end=138777655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_203347;refseq.name2=LCN15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A131A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-26;refseq.start=138777655;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr9 138778171 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=182;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=97.97;MQ0=0;OQ=3165.50;QD=17.39;RankSumP=0.180270;SB=-1524.02;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.208G>A;refseq.codonCoord=70;refseq.end=138778171;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_203347;refseq.name2=LCN15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-29;refseq.start=138778171;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr9 138820426 . T C 215.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=94.93;MQ0=0;OQ=138.64;QD=17.33;RankSumP=1.00000;SB=-70.34;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1024T>C;refseq.codonCoord_2=342;refseq.end_1=138820647;refseq.end_2=138820426;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1084;refseq.name2_1=LOC100131193;refseq.name2_2=KIAA1984;refseq.name_1=NR_024580;refseq.name_2=NM_001039374;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.W342R;refseq.referenceAA_2=Trp;refseq.referenceCodon_2=TGG;refseq.spliceDist_2=76;refseq.start_1=138820412;refseq.start_2=138820426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr9 138820929 . A C 129.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=4.86;MQ=98.45;MQ0=0;OQ=3328.65;QD=29.99;RankSumP=1.00000;SB=-1314.23;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.1262A>C;refseq.codonCoord_2=421;refseq.end_1=138821091;refseq.end_2=138820929;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1322;refseq.name2_1=LOC100131193;refseq.name2_2=KIAA1984;refseq.name_1=NR_024580;refseq.name_2=NM_001039374;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N421T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-17;refseq.start_1=138820821;refseq.start_2=138820929;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr9 138868888 . C T 248.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.59;MQ0=0;OQ=700.03;QD=33.33;RankSumP=1.00000;SB=-349.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.873C>T;refseq.codonCoord=291;refseq.end=138868888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_206920;refseq.name2=MAMDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R291R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-62;refseq.start=138868888;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr9 138872720 . T G 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=8.56;MQ=98.50;MQ0=0;OQ=1389.37;QD=24.37;RankSumP=1.00000;SB=-87.95;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.2722T>G;refseq.codonCoord=908;refseq.end=138872720;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2772;refseq.name=NM_206920;refseq.name2=MAMDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.W908G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=48;refseq.start=138872720;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr9 138956700 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.715T>G;refseq.codonCoord=239;refseq.end=138956700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_018998;refseq.name2=FBXW5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F239V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=40;refseq.start=138956700;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr9 138959725 . T G 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=91.78;QD=8.34;RankSumP=0.750000;SB=-34.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.132T>G;refseq.codonCoord=44;refseq.end=138959725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_000606;refseq.name2=C8G;refseq.positionType=CDS;refseq.proteinCoordStr=p.A44A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=138959725;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr9 138960364 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=97.40;MQ0=0;OQ=2408.35;QD=30.88;RankSumP=1.00000;SB=-1084.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.353A>G;refseq.codonCoord=118;refseq.end=138960364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_000606;refseq.name2=C8G;refseq.positionType=CDS;refseq.proteinCoordStr=p.D118G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=138960364;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 138960417 . G A 213.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.37;MQ0=0;OQ=2417.29;QD=17.64;RankSumP=0.308509;SB=-959.02;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.406G>A;refseq.codonCoord=136;refseq.end=138960417;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_000606;refseq.name2=C8G;refseq.positionType=CDS;refseq.proteinCoordStr=p.A136T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-49;refseq.start=138960417;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr9 138968509 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=99.00;MQ0=0;OQ=490.70;QD=16.92;RankSumP=0.452531;SB=-197.70;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.531C>T;refseq.codonCoord=177;refseq.end=138968509;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_178536;refseq.name2=LCN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I177I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-20;refseq.start=138968509;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr9 138991869 . A G 130.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=15;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=12.93;MQ=97.00;MQ0=0;OQ=901.05;QD=14.08;RankSumP=1.00000;SB=-73.89;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.18A>G;refseq.codonCoord=6;refseq.end=138991869;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=93;refseq.name=NM_000954;refseq.name2=PTGDS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T6T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=93;refseq.start=138991869;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr9 138998991 . G A 274.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.81;MQ0=0;OQ=1291.18;QD=16.99;RankSumP=0.193209;SB=-614.68;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.202G>A;refseq.codonCoord=68;refseq.end=138998991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_207510;refseq.name2=LCNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A68T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=138998991;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr9 139023858 . A G 444.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.51;MQ0=0;OQ=5361.37;QD=37.23;RankSumP=1.00000;SB=-2403.31;SecondBestBaseQ=2;set=Intersection GT 1/1 chr9 139026180 . G A 313.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=863.74;QD=41.13;RankSumP=1.00000;SB=-181.22;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 139031804 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.66;MQ0=0;OQ=577.99;QD=7.61;RankSumP=0.263187;SB=-208.26;SecondBestBaseQ=31;set=Intersection GT 1/0 chr9 139032305 . A G 136.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=9.88;MQ=98.12;MQ0=0;OQ=6302.04;QD=34.82;RankSumP=1.00000;SB=-2754.86;SecondBestBaseQ=2;set=Intersection GT 1/1 chr9 139033060 . T G 94.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=5.40;MQ=98.27;MQ0=0;OQ=6120.62;QD=37.55;RankSumP=1.00000;SB=-2369.93;SecondBestBaseQ=0;set=Intersection GT 1/1 chr9 139034714 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=97.18;MQ0=0;OQ=737.93;QD=10.69;RankSumP=0.262897;SB=-320.83;SecondBestBaseQ=22;set=Intersection GT 0/1 chr9 139036654 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=4.01;MQ=99.00;MQ0=0;OQ=410.05;QD=10.25;RankSumP=0.730341;SB=-75.08;SecondBestBaseQ=28;set=Intersection GT 1/0 chr9 139036700 . C T 114.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=99.00;MQ0=0;OQ=1271.83;QD=15.32;RankSumP=0.321138;SB=-396.74;SecondBestBaseQ=27;set=Intersection GT 0/1 chr9 139045748 . G C 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=122.42;QD=17.49;RankSumP=0.392857;SB=-48.90;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_2=c.264C>G;refseq.codonCoord_2=88;refseq.end_1=139046260;refseq.end_2=139045748;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1113;refseq.name2_1=C9orf139;refseq.name2_2=FUT7;refseq.name_1=NM_207511;refseq.name_2=NM_004479;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A88A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=251;refseq.start_1=139042195;refseq.start_2=139045748;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr9 139049256 . A G 271.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=97.59;MQ0=0;OQ=1705.82;QD=15.79;RankSumP=0.451346;SB=-782.18;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.502A>G;refseq.codonCoord=168;refseq.end=139049256;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2016;refseq.name=NM_207511;refseq.name2=C9orf139;refseq.positionType=CDS;refseq.proteinCoordStr=p.K168E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=334;refseq.start=139049256;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr9 139065392 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.557T>G;refseq.codingCoordStr_2=c.557T>G;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.end_1=139065392;refseq.end_2=139065392;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=613;refseq.mrnaCoord_2=613;refseq.name2_1=ENTPD2;refseq.name2_2=ENTPD2;refseq.name_1=NM_001246;refseq.name_2=NM_203468;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V186G;refseq.proteinCoordStr_2=p.V186G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=139065392;refseq.start_2=139065392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr9 139092721 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=97.76;MQ0=0;OQ=3216.07;QD=33.50;RankSumP=1.00000;SB=-307.73;SecondBestBaseQ=0;refseq.chr=chr9;refseq.end=139092764;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_207309;refseq.name2=UAP1L1;refseq.positionType=intron;refseq.start=139092538;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr9 139093366 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=9.54619e-08;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.788C>G;refseq.codonCoord=263;refseq.end=139093366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_207309;refseq.name2=UAP1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A263G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-56;refseq.start=139093366;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 139101448 . A G 130.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.78;MQ0=0;OQ=840.30;QD=32.32;RankSumP=0.615385;SB=-370.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.176A>G;refseq.codonCoord=59;refseq.end=139101448;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_016219;refseq.name2=MAN1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N59S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-44;refseq.start=139101448;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 0/1 chr9 139122810 . T C 361.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=4.61;MQ=98.56;MQ0=0;OQ=6049.85;QD=36.44;RankSumP=1.00000;SB=-2823.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.2046T>C;refseq.codonCoord=682;refseq.end=139122810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2081;refseq.name=NM_016219;refseq.name2=MAN1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D682D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=150;refseq.start=139122810;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr9 139126246 . C G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.33;MQ0=0;OQ=3673.76;QD=43.22;RankSumP=1.00000;SB=-1499.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1107G>C;refseq.codonCoord=369;refseq.end=139126246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1137;refseq.name=NM_013379;refseq.name2=DPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P369P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=57;refseq.start=139126246;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 139127363 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.733A>C;refseq.codonCoord=245;refseq.end=139127363;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_013379;refseq.name2=DPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=30;refseq.start=139127363;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr9 139128571 . G C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=97.70;MQ0=0;OQ=2436.99;QD=42.02;RankSumP=1.00000;SB=-1064.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.266C>G;refseq.codonCoord=89;refseq.end=139128571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_013379;refseq.name2=DPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A89G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-56;refseq.start=139128571;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr9 139128755 . A G 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=447.55;QD=37.30;RankSumP=1.00000;SB=-168.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.162T>C;refseq.codonCoord=54;refseq.end=139128755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_013379;refseq.name2=DPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-20;refseq.start=139128755;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr9 139171059 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=158.97;QD=11.36;RankSumP=0.694716;SB=-95.82;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.789A>G;refseq.codingCoordStr_2=c.789A>G;refseq.codingCoordStr_3=c.789A>G;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.codonCoord_3=263;refseq.end_1=139171059;refseq.end_2=139171059;refseq.end_3=139171059;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1119;refseq.mrnaCoord_2=1119;refseq.mrnaCoord_3=1119;refseq.name2_1=GRIN1;refseq.name2_2=GRIN1;refseq.name2_3=GRIN1;refseq.name_1=NM_000832;refseq.name_2=NM_007327;refseq.name_3=NM_021569;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P263P;refseq.proteinCoordStr_2=p.P263P;refseq.proteinCoordStr_3=p.P263P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=139171059;refseq.start_2=139171059;refseq.start_3=139171059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr9 139171197 . G A 178.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=97.87;MQ0=0;OQ=1620.13;QD=17.05;RankSumP=0.00425541;SB=-614.11;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.855G>A;refseq.codingCoordStr_2=c.855G>A;refseq.codingCoordStr_3=c.855G>A;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.codonCoord_3=285;refseq.end_1=139171197;refseq.end_2=139171197;refseq.end_3=139171197;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1185;refseq.mrnaCoord_2=1185;refseq.mrnaCoord_3=1185;refseq.name2_1=GRIN1;refseq.name2_2=GRIN1;refseq.name2_3=GRIN1;refseq.name_1=NM_000832;refseq.name_2=NM_007327;refseq.name_3=NM_021569;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V285V;refseq.proteinCoordStr_2=p.V285V;refseq.proteinCoordStr_3=p.V285V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.start_1=139171197;refseq.start_2=139171197;refseq.start_3=139171197;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=filterInsoap-gatk GT 1/0 chr9 139184136 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.81G>T;refseq.codonCoord=27;refseq.end=139184136;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_001013653;refseq.name2=LRRC26;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q27H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=177;refseq.start=139184136;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr9 139197460 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.54;MQ0=0;OQ=1127.82;QD=12.53;RankSumP=0.253331;SB=-489.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1224C>T;refseq.codonCoord=408;refseq.end=139197460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_013366;refseq.name2=ANAPC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R408R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=56;refseq.start=139197460;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr9 139202367 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=10.87;MQ=97.86;MQ0=0;OQ=858.50;QD=11.30;RankSumP=0.0571732;SB=-242.63;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.127C>A;refseq.codonCoord=43;refseq.end=139202367;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_013366;refseq.name2=ANAPC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R43R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=139202367;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr9 139213724 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=96.86;MQ0=0;OQ=277.31;QD=8.67;RankSumP=0.389877;SB=-112.94;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1078C>T;refseq.codingCoordStr_2=c.1078C>T;refseq.codonCoord_1=360;refseq.codonCoord_2=360;refseq.end_1=139213724;refseq.end_2=139213724;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1078;refseq.name2_1=TPRN;refseq.name2_2=TPRN;refseq.name_1=NM_001128228;refseq.name_2=NM_173691;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P360S;refseq.proteinCoordStr_2=p.P360S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-465;refseq.spliceDist_2=-465;refseq.start_1=139213724;refseq.start_2=139213724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr9 139230238 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1502A>G;refseq.codingCoordStr_2=c.1400A>G;refseq.codingCoordStr_3=c.1481A>G;refseq.codingCoordStr_4=c.1502A>G;refseq.codonCoord_1=501;refseq.codonCoord_2=467;refseq.codonCoord_3=494;refseq.codonCoord_4=501;refseq.end_1=139230238;refseq.end_2=139230238;refseq.end_3=139230238;refseq.end_4=139230238;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1613;refseq.mrnaCoord_2=1511;refseq.mrnaCoord_3=1592;refseq.mrnaCoord_4=1613;refseq.name2_1=NDOR1;refseq.name2_2=NDOR1;refseq.name2_3=NDOR1;refseq.name2_4=NDOR1;refseq.name_1=NM_001144026;refseq.name_2=NM_001144027;refseq.name_3=NM_001144028;refseq.name_4=NM_014434;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E501G;refseq.proteinCoordStr_2=p.E467G;refseq.proteinCoordStr_3=p.E494G;refseq.proteinCoordStr_4=p.E501G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.spliceDist_4=-53;refseq.start_1=139230238;refseq.start_2=139230238;refseq.start_3=139230238;refseq.start_4=139230238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr9 139230376 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=3;HaplotypeScore=1.99;MQ=98.73;MQ0=0;OQ=1263.17;QD=18.85;RankSumP=0.485565;SB=-575.75;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.chr_4=chr9;refseq.codingCoordStr_1=c.1591G>A;refseq.codingCoordStr_2=c.1462G>A;refseq.codingCoordStr_3=c.1543G>A;refseq.codingCoordStr_4=c.1564G>A;refseq.codonCoord_1=531;refseq.codonCoord_2=488;refseq.codonCoord_3=515;refseq.codonCoord_4=522;refseq.end_1=139230376;refseq.end_2=139230376;refseq.end_3=139230376;refseq.end_4=139230376;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1702;refseq.mrnaCoord_2=1573;refseq.mrnaCoord_3=1654;refseq.mrnaCoord_4=1675;refseq.name2_1=NDOR1;refseq.name2_2=NDOR1;refseq.name2_3=NDOR1;refseq.name2_4=NDOR1;refseq.name_1=NM_001144026;refseq.name_2=NM_001144027;refseq.name_3=NM_001144028;refseq.name_4=NM_014434;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V531I;refseq.proteinCoordStr_2=p.V488I;refseq.proteinCoordStr_3=p.V515I;refseq.proteinCoordStr_4=p.V522I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_1=37;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=139230376;refseq.start_2=139230376;refseq.start_3=139230376;refseq.start_4=139230376;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/0 chr9 139247906 . T C 235.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=98.61;MQ0=0;OQ=3086.16;QD=36.31;RankSumP=1.00000;SB=-975.16;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.757T>C;refseq.codingCoordStr_2=c.757T>C;refseq.codingCoordStr_3=c.757T>C;refseq.codonCoord_1=253;refseq.codonCoord_2=253;refseq.codonCoord_3=253;refseq.end_1=139247906;refseq.end_2=139247906;refseq.end_3=139247906;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=981;refseq.mrnaCoord_3=943;refseq.name2_1=SLC34A3;refseq.name2_2=SLC34A3;refseq.name2_3=SLC34A3;refseq.name_1=NM_001177316;refseq.name_2=NM_001177317;refseq.name_3=NM_080877;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L253L;refseq.proteinCoordStr_2=p.L253L;refseq.proteinCoordStr_3=p.L253L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=139247906;refseq.start_2=139247906;refseq.start_3=139247906;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr9 139250427 . A T 175.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=431.96;QD=36.00;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.chr_3=chr9;refseq.codingCoordStr_1=c.1538A>T;refseq.codingCoordStr_2=c.1538A>T;refseq.codingCoordStr_3=c.1538A>T;refseq.codonCoord_1=513;refseq.codonCoord_2=513;refseq.codonCoord_3=513;refseq.end_1=139250427;refseq.end_2=139250427;refseq.end_3=139250427;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1759;refseq.mrnaCoord_2=1762;refseq.mrnaCoord_3=1724;refseq.name2_1=SLC34A3;refseq.name2_2=SLC34A3;refseq.name2_3=SLC34A3;refseq.name_1=NM_001177316;refseq.name_2=NM_001177317;refseq.name_3=NM_080877;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E513V;refseq.proteinCoordStr_2=p.E513V;refseq.proteinCoordStr_3=p.E513V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=203;refseq.spliceDist_2=203;refseq.spliceDist_3=203;refseq.start_1=139250427;refseq.start_2=139250427;refseq.start_3=139250427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr9 139257203 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.712A>C;refseq.codonCoord=238;refseq.end=139257203;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_006088;refseq.name2=TUBB2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T238P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=435;refseq.start=139257203;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr9 139257321 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.830G>C;refseq.codonCoord=277;refseq.end=139257321;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_006088;refseq.name2=TUBB2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G277A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=553;refseq.start=139257321;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr9 139259407 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.607C>G;refseq.codonCoord=203;refseq.end=139259407;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=662;refseq.name=NM_001001710;refseq.name2=FAM166A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P203A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-46;refseq.start=139259407;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr9 139259578 . G A 298.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.33;MQ0=0;OQ=2748.71;QD=36.17;RankSumP=1.00000;SB=-1381.65;SecondBestBaseQ=10;refseq.chr=chr9;refseq.codingCoordStr=c.522+2;refseq.end=139259578;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_001001710;refseq.name2=FAM166A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=139259578;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr9 139277335 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.623T>G;refseq.codonCoord=208;refseq.end=139277335;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_015456;refseq.name2=COBRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V208G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=26;refseq.start=139277335;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr9 139286418 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=97.84;MQ0=0;OQ=2658.97;QD=14.14;RankSumP=0.407886;SB=-573.55;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1410G>A;refseq.codonCoord=470;refseq.end=139286418;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1613;refseq.name=NM_015456;refseq.name2=COBRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A470A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=65;refseq.start=139286418;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr9 139286843 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=5.90;MQ=97.13;MQ0=0;OQ=942.11;QD=11.49;RankSumP=0.292280;SB=-322.84;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr9;refseq.codingCoordStr=c.1551G>A;refseq.codonCoord=517;refseq.end=139286843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1754;refseq.name=NM_015456;refseq.name2=COBRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P517P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-46;refseq.start=139286843;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr9 139450797 . T C 223.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.76;MQ0=0;OQ=2032.33;QD=34.45;RankSumP=1.00000;SB=-509.54;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.783A>G;refseq.codingCoordStr_2=c.783A>G;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.end_1=139450797;refseq.end_2=139450797;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=967;refseq.mrnaCoord_2=967;refseq.name2_1=ENTPD8;refseq.name2_2=ENTPD8;refseq.name_1=NM_001033113;refseq.name_2=NM_198585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V261V;refseq.proteinCoordStr_2=p.V261V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=139450797;refseq.start_2=139450797;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr9 139451157 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=5.00758e-06;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.540G>T;refseq.codingCoordStr_2=c.540G>T;refseq.codonCoord_1=180;refseq.codonCoord_2=180;refseq.end_1=139451157;refseq.end_2=139451157;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=724;refseq.name2_1=ENTPD8;refseq.name2_2=ENTPD8;refseq.name_1=NM_001033113;refseq.name_2=NM_198585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L180F;refseq.proteinCoordStr_2=p.L180F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=139451157;refseq.start_2=139451157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr9 139452299 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=23.67;MQ=97.81;MQ0=0;OQ=6411.46;QD=32.55;RankSumP=1.00000;SB=-2749.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.185T>C;refseq.codingCoordStr_2=c.185T>C;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=139452299;refseq.end_2=139452299;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=369;refseq.mrnaCoord_2=369;refseq.name2_1=ENTPD8;refseq.name2_2=ENTPD8;refseq.name_1=NM_001033113;refseq.name_2=NM_198585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L62P;refseq.proteinCoordStr_2=p.L62P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=139452299;refseq.start_2=139452299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr9 139476471 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.171093;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3626G>A;refseq.codingCoordStr_2=c.3551G>A;refseq.codonCoord_1=1209;refseq.codonCoord_2=1184;refseq.end_1=139476471;refseq.end_2=139476471;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3963;refseq.mrnaCoord_2=3888;refseq.name2_1=PNPLA7;refseq.name2_2=PNPLA7;refseq.name_1=NM_001098537;refseq.name_2=NM_152286;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1209D;refseq.proteinCoordStr_2=p.G1184D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=139476471;refseq.start_2=139476471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr9 139477793 . A G 216.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=601.19;QD=37.57;RankSumP=1.00000;SB=-162.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.3238T>C;refseq.codingCoordStr_2=c.3163T>C;refseq.codonCoord_1=1080;refseq.codonCoord_2=1055;refseq.end_1=139477793;refseq.end_2=139477793;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3575;refseq.mrnaCoord_2=3500;refseq.name2_1=PNPLA7;refseq.name2_2=PNPLA7;refseq.name_1=NM_001098537;refseq.name_2=NM_152286;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W1080R;refseq.proteinCoordStr_2=p.W1055R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=139477793;refseq.start_2=139477793;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr9 139494682 . A G 323.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=94.99;MQ0=0;OQ=4378.94;QD=37.75;RankSumP=1.00000;SB=-849.99;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2483T>C;refseq.codingCoordStr_2=c.2408T>C;refseq.codonCoord_1=828;refseq.codonCoord_2=803;refseq.end_1=139494682;refseq.end_2=139494682;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2820;refseq.mrnaCoord_2=2745;refseq.name2_1=PNPLA7;refseq.name2_2=PNPLA7;refseq.name_1=NM_001098537;refseq.name_2=NM_152286;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V828A;refseq.proteinCoordStr_2=p.V803A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=139494682;refseq.start_2=139494682;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr9 139494734 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.2431T>G;refseq.codingCoordStr_2=c.2356T>G;refseq.codonCoord_1=811;refseq.codonCoord_2=786;refseq.end_1=139494734;refseq.end_2=139494734;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2768;refseq.mrnaCoord_2=2693;refseq.name2_1=PNPLA7;refseq.name2_2=PNPLA7;refseq.name_1=NM_001098537;refseq.name_2=NM_152286;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S811A;refseq.proteinCoordStr_2=p.S786A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=139494734;refseq.start_2=139494734;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr9 139628896 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=72;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=98.70;MQ0=0;OQ=663.33;QD=9.21;RankSumP=0.220267;SB=-353.43;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.860A>C;refseq.codonCoord=287;refseq.end=139628896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_152285;refseq.name2=ARRDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N287T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=65;refseq.start=139628896;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr9 139629123 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=96.70;MQ0=0;OQ=656.54;QD=13.97;RankSumP=0.0370416;SB=-265.28;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr9;refseq.codingCoordStr=c.1087G>T;refseq.codonCoord=363;refseq.end=139629123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_152285;refseq.name2=ARRDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G363C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-151;refseq.start=139629123;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr9 139731257 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.74;MQ0=0;OQ=1290.82;QD=15.01;RankSumP=0.253249;SB=-492.32;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.444T>C;refseq.codingCoordStr_2=c.444T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=139731257;refseq.end_2=139731257;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=481;refseq.mrnaCoord_2=481;refseq.name2_1=EHMT1;refseq.name2_2=EHMT1;refseq.name_1=NM_001145527;refseq.name_2=NM_024757;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P148P;refseq.proteinCoordStr_2=p.P148P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-199;refseq.spliceDist_2=-199;refseq.start_1=139731257;refseq.start_2=139731257;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr9 139758282 . T C 132.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.62;MQ0=0;OQ=1054.42;QD=16.74;RankSumP=0.579702;SB=-382.31;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1089T>C;refseq.codingCoordStr_2=c.1089T>C;refseq.codonCoord_1=363;refseq.codonCoord_2=363;refseq.end_1=139758282;refseq.end_2=139758282;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1126;refseq.mrnaCoord_2=1126;refseq.name2_1=EHMT1;refseq.name2_2=EHMT1;refseq.name_1=NM_001145527;refseq.name_2=NM_024757;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G363G;refseq.proteinCoordStr_2=p.G363G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=139758282;refseq.start_2=139758282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr9 139768563 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.93;MQ0=0;OQ=933.85;QD=22.23;RankSumP=0.689681;SB=-249.26;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr9;refseq.chr_2=chr9;refseq.codingCoordStr_1=c.1368C>T;refseq.codingCoordStr_2=c.1368C>T;refseq.codonCoord_1=456;refseq.codonCoord_2=456;refseq.end_1=139768563;refseq.end_2=139768563;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1405;refseq.mrnaCoord_2=1405;refseq.name2_1=EHMT1;refseq.name2_2=EHMT1;refseq.name_1=NM_001145527;refseq.name_2=NM_024757;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L456L;refseq.proteinCoordStr_2=p.L456L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=139768563;refseq.start_2=139768563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr10 83603 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=0;RankSumP=0.183824;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.513G>A;refseq.codingCoordStr_2=c.729G>A;refseq.codonCoord_1=171;refseq.codonCoord_2=243;refseq.end_1=83603;refseq.end_2=83603;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=729;refseq.name2_1=TUBB8;refseq.name2_2=TUBB8;refseq.name_1=NM_001164154;refseq.name_2=NM_177987;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P171P;refseq.proteinCoordStr_2=p.P243P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=452;refseq.spliceDist_2=452;refseq.start_1=83603;refseq.start_2=83603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr10 83945 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=6.43;MQ=27.47;MQ0=159;OQ=594.04;QD=2.78;RankSumP=0.199605;SB=-280.59;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.171C>T;refseq.codingCoordStr_2=c.387C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=129;refseq.end_1=83945;refseq.end_2=83945;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=487;refseq.mrnaCoord_2=387;refseq.name2_1=TUBB8;refseq.name2_2=TUBB8;refseq.name_1=NM_001164154;refseq.name_2=NM_177987;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C57C;refseq.proteinCoordStr_2=p.C129C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.start_1=83945;refseq.start_2=83945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr10 84018 . T C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.188468;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.98A>G;refseq.codingCoordStr_2=c.314A>G;refseq.codonCoord_1=33;refseq.codonCoord_2=105;refseq.end_1=84018;refseq.end_2=84018;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=414;refseq.mrnaCoord_2=314;refseq.name2_1=TUBB8;refseq.name2_2=TUBB8;refseq.name_1=NM_001164154;refseq.name_2=NM_177987;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H33R;refseq.proteinCoordStr_2=p.H105R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=84018;refseq.start_2=84018;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=soap GT 1/0 chr10 84026 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=29.31;MQ0=19;OQ=613.43;QD=9.16;RankSumP=0.537934;SB=-218.89;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.90C>T;refseq.codingCoordStr_2=c.306C>T;refseq.codonCoord_1=30;refseq.codonCoord_2=102;refseq.end_1=84026;refseq.end_2=84026;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=306;refseq.name2_1=TUBB8;refseq.name2_2=TUBB8;refseq.name_1=NM_001164154;refseq.name_2=NM_177987;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A30A;refseq.proteinCoordStr_2=p.A102A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=84026;refseq.start_2=84026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr10 284953 . A G 293.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.97;MQ0=0;OQ=6053.37;QD=42.33;RankSumP=1.00000;SB=-1552.29;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1611A>G;refseq.codingCoordStr_2=c.1611A>G;refseq.codingCoordStr_3=c.1608A>G;refseq.codonCoord_1=537;refseq.codonCoord_2=537;refseq.codonCoord_3=536;refseq.end_1=284953;refseq.end_2=284953;refseq.end_3=284953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1933;refseq.mrnaCoord_2=2039;refseq.mrnaCoord_3=2036;refseq.name2_1=ZMYND11;refseq.name2_2=ZMYND11;refseq.name2_3=ZMYND11;refseq.name_1=NM_001161482;refseq.name_2=NM_006624;refseq.name_3=NM_212479;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E537E;refseq.proteinCoordStr_2=p.E537E;refseq.proteinCoordStr_3=p.E536E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=111;refseq.start_1=284953;refseq.start_2=284953;refseq.start_3=284953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr10 419977 . G A 137.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=12.68;MQ=97.68;MQ0=0;OQ=1481.62;QD=16.46;RankSumP=0.324406;SB=-74.08;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1866C>T;refseq.codonCoord=622;refseq.end=419977;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_014974;refseq.name2=DIP2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G622G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-11;refseq.start=419977;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr10 426734 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1330G>C;refseq.codonCoord=444;refseq.end=426734;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_014974;refseq.name2=DIP2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A444P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-55;refseq.start=426734;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 435061 . C T 116.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=13.49;MQ=95.80;MQ0=0;OQ=6740.14;QD=35.47;RankSumP=1.00000;SB=-836.31;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1248G>A;refseq.codonCoord=416;refseq.end=435061;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1338;refseq.name=NM_014974;refseq.name2=DIP2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P416P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-13;refseq.start=435061;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr10 449940 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=10.47;MQ=97.36;MQ0=0;OQ=1592.04;QD=12.64;RankSumP=0.220681;SB=-498.47;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.970C>T;refseq.codonCoord=324;refseq.end=449940;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_014974;refseq.name2=DIP2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L324L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-88;refseq.start=449940;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr10 1036712 . G A 103.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=20.88;MQ=98.65;MQ0=0;OQ=10348.31;QD=21.83;RankSumP=0.348467;SB=-2041.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.750G>A;refseq.codonCoord=250;refseq.end=1036712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_012341;refseq.name2=GTPBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A250A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=96;refseq.start=1036712;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr10 1077314 . T C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.313016;SecondBestBaseQ=34;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_5=c.668A>G;refseq.codonCoord_5=223;refseq.end_1=1079458;refseq.end_2=1079458;refseq.end_3=1079458;refseq.end_4=1079458;refseq.end_5=1077314;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=786;refseq.name2_1=C10orf110;refseq.name2_2=C10orf110;refseq.name2_3=C10orf110;refseq.name2_4=C10orf110;refseq.name2_5=IDI1;refseq.name_1=NR_024628;refseq.name_2=NR_024629;refseq.name_3=NR_027708;refseq.name_4=NR_027709;refseq.name_5=NM_004508;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.N223S;refseq.referenceAA_5=Asn;refseq.referenceCodon_5=AAT;refseq.spliceDist_5=131;refseq.start_1=1072844;refseq.start_2=1072844;refseq.start_3=1072844;refseq.start_4=1072844;refseq.start_5=1077314;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=-;refseq.variantAA_5=Ser;refseq.variantCodon_5=AGT;set=FilteredInAll GT 1/0 chr10 1220968 . C T 279.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=98.52;MQ0=0;OQ=1731.19;QD=18.22;RankSumP=0.0407062;SB=-736.84;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1876G>A;refseq.codonCoord=626;refseq.end=1220968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2250;refseq.name=NM_018702;refseq.name2=ADARB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A626T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=12;refseq.start=1220968;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr10 3133643 . A C 106.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.32;MQ0=0;OQ=1271.09;QD=32.59;RankSumP=1.00000;SB=-438.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.351A>C;refseq.codonCoord=117;refseq.end=3133643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_002627;refseq.name2=PFKP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R117R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=87;refseq.start=3133643;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr10 3145620 . A G 134.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=7.25;MQ=97.68;MQ0=0;OQ=4515.47;QD=30.93;RankSumP=1.00000;SB=-1881.55;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1281A>G;refseq.codonCoord=427;refseq.end=3145620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_002627;refseq.name2=PFKP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A427A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=57;refseq.start=3145620;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 3152216 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.361507;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1663G>A;refseq.codonCoord=555;refseq.end=3152216;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1699;refseq.name=NM_002627;refseq.name2=PFKP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A555T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-21;refseq.start=3152216;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr10 3162121 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=19.12;MQ=97.74;MQ0=0;OQ=1671.02;QD=14.66;RankSumP=0.116472;SB=-150.13;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1794C>T;refseq.codonCoord=598;refseq.end=3162121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1830;refseq.name=NM_002627;refseq.name2=PFKP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A598A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-55;refseq.start=3162121;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr10 3162145 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=94;Dels=0.00;HRun=4;HaplotypeScore=7.71;MQ=97.82;MQ0=0;OQ=1461.37;QD=15.55;RankSumP=0.0604397;SB=-242.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1818C>T;refseq.codonCoord=606;refseq.end=3162145;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1854;refseq.name=NM_002627;refseq.name2=PFKP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F606F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-31;refseq.start=3162145;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr10 4865551 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.217A>C;refseq.codonCoord=73;refseq.end=4865551;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001040177;refseq.name2=AKR1E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T73P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=4865551;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 4879403 . C T 220.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=17.14;MQ=98.77;MQ0=0;OQ=9782.63;QD=20.81;RankSumP=0.0915482;SB=-3551.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.901C>T;refseq.codonCoord=301;refseq.end=4879403;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_001040177;refseq.name2=AKR1E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R301*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-20;refseq.start=4879403;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 0/1 chr10 4995651 . T C 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.212685;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.15T>C;refseq.codonCoord=5;refseq.end=4995651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y5Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-70;refseq.start=4995651;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 1/0 chr10 4999193 . T C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.381372;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.327T>C;refseq.codonCoord=109;refseq.end=4999193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D109D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-43;refseq.start=4999193;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr10 4999208 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.214637;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=4999208;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y114Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-28;refseq.start=4999208;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 0/1 chr10 5000572 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.495082;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.441A>G;refseq.codonCoord=147;refseq.end=5000572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=5000572;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 0/1 chr10 5001081 . A T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.397606;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.515A>T;refseq.codonCoord=172;refseq.end=5001081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q172L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-56;refseq.start=5001081;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr10 5004488 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.726190;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.666C>T;refseq.codonCoord=222;refseq.end=5004488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_001353;refseq.name2=AKR1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H222H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-15;refseq.start=5004488;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr10 5030872 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.395838;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.515T>A;refseq.codingCoordStr_2=c.515T>A;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=5030872;refseq.end_2=5030872;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=910;refseq.mrnaCoord_2=810;refseq.name2_1=AKR1C2;refseq.name2_2=AKR1C2;refseq.name_1=NM_001354;refseq.name_2=NM_205845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L172Q;refseq.proteinCoordStr_2=p.L172Q;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=5030872;refseq.start_2=5030872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 0/1 chr10 5031398 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.222125;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.441A>G;refseq.codingCoordStr_2=c.441A>G;refseq.codonCoord_1=147;refseq.codonCoord_2=147;refseq.end_1=5031398;refseq.end_2=5031398;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=836;refseq.mrnaCoord_2=736;refseq.name2_1=AKR1C2;refseq.name2_2=AKR1C2;refseq.name_1=NM_001354;refseq.name_2=NM_205845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T147T;refseq.proteinCoordStr_2=p.T147T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=5031398;refseq.start_2=5031398;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 1/0 chr10 5032769 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.324905;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.342T>C;refseq.codingCoordStr_2=c.342T>C;refseq.codingCoordStr_3=c.342T>C;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.codonCoord_3=114;refseq.end_1=5032769;refseq.end_2=5032769;refseq.end_3=5032769;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=737;refseq.mrnaCoord_3=637;refseq.name2_1=AKR1C2;refseq.name2_2=AKR1C2;refseq.name2_3=AKR1C2;refseq.name_1=NM_001135241;refseq.name_2=NM_001354;refseq.name_3=NM_205845;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y114Y;refseq.proteinCoordStr_2=p.Y114Y;refseq.proteinCoordStr_3=p.Y114Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=5032769;refseq.start_2=5032769;refseq.start_3=5032769;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=soap GT 0/1 chr10 5032784 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.474472;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.327C>T;refseq.codingCoordStr_2=c.327C>T;refseq.codingCoordStr_3=c.327C>T;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.end_1=5032784;refseq.end_2=5032784;refseq.end_3=5032784;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=353;refseq.mrnaCoord_2=722;refseq.mrnaCoord_3=622;refseq.name2_1=AKR1C2;refseq.name2_2=AKR1C2;refseq.name2_3=AKR1C2;refseq.name_1=NM_001135241;refseq.name_2=NM_001354;refseq.name_3=NM_205845;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D109D;refseq.proteinCoordStr_2=p.D109D;refseq.proteinCoordStr_3=p.D109D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=5032784;refseq.start_2=5032784;refseq.start_3=5032784;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=soap GT 1/0 chr10 5032852 . T A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0107863;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.259A>T;refseq.codingCoordStr_2=c.259A>T;refseq.codingCoordStr_3=c.259A>T;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.codonCoord_3=87;refseq.end_1=5032852;refseq.end_2=5032852;refseq.end_3=5032852;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=285;refseq.mrnaCoord_2=654;refseq.mrnaCoord_3=554;refseq.name2_1=AKR1C2;refseq.name2_2=AKR1C2;refseq.name2_3=AKR1C2;refseq.name_1=NM_001135241;refseq.name_2=NM_001354;refseq.name_3=NM_205845;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S87C;refseq.proteinCoordStr_2=p.S87C;refseq.proteinCoordStr_3=p.S87C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=5032852;refseq.start_2=5032852;refseq.start_3=5032852;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=soap GT 1/0 chr10 5126651 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=742;Dels=0.00;HRun=0;HaplotypeScore=22.91;MQ=98.91;MQ0=0;OQ=16537.33;QD=22.29;RankSumP=0.0475666;SB=-4940.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.15C>G;refseq.codonCoord=5;refseq.end=5126651;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_003739;refseq.name2=AKR1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H5Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-70;refseq.start=5126651;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr10 5128747 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=452;Dels=0.00;HRun=1;HaplotypeScore=8.07;MQ=55.62;MQ0=157;OQ=5341.63;QD=11.82;RankSumP=0.431768;SB=-2024.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.230A>G;refseq.codonCoord=77;refseq.end=5128747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_003739;refseq.name2=AKR1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E77G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-23;refseq.start=5128747;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr10 5129685 . G A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=382;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.79;MQ0=0;OQ=16465.71;QD=43.10;RankSumP=1.00000;SB=-6294.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.312G>A;refseq.codonCoord=104;refseq.end=5129685;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_003739;refseq.name2=AKR1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K104K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-58;refseq.start=5129685;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr10 5131533 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=262;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=87.47;MQ0=0;OQ=400.91;QD=1.53;RankSumP=0.00000;SB=462.49;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.462T>G;refseq.codonCoord=154;refseq.end=5131533;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_003739;refseq.name2=AKR1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C154W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=15;refseq.start=5131533;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr10 5131609 . C T 188.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=14.48;MQ=91.44;MQ0=2;OQ=5619.84;QD=16.93;RankSumP=0.00548288;SB=-1809.48;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.538C>T;refseq.codonCoord=180;refseq.end=5131609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_003739;refseq.name2=AKR1C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P180S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-33;refseq.start=5131609;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 0/1 chr10 5232164 . A G 257.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=97.33;MQ0=0;OQ=5387.00;QD=20.25;RankSumP=0.0615149;SB=-1823.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.105A>G;refseq.codonCoord=35;refseq.end=5232164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_001818;refseq.name2=AKR1C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V35V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=21;refseq.start=5232164;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr10 5238252 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=409;Dels=0.00;HRun=1;HaplotypeScore=16.01;MQ=86.83;MQ0=10;OQ=305.88;QD=0.75;RankSumP=0.00000;SB=697.29;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.462T>G;refseq.codonCoord=154;refseq.end=5238252;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_001818;refseq.name2=AKR1C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C154W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=15;refseq.start=5238252;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr10 5245025 . A G 196.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=10.31;MQ=93.17;MQ0=5;OQ=7343.93;QD=34.00;RankSumP=1.00000;SB=-2315.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.749A>G;refseq.codonCoord=250;refseq.end=5245025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_001818;refseq.name2=AKR1C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q250R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=69;refseq.start=5245025;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr10 5485218 . T C 240.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=676.16;QD=39.77;RankSumP=1.00000;SB=-226.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.600T>C;refseq.codingCoordStr_2=c.438T>C;refseq.codonCoord_1=200;refseq.codonCoord_2=146;refseq.end_1=5485218;refseq.end_2=5485218;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=738;refseq.mrnaCoord_2=621;refseq.name2_1=NET1;refseq.name2_2=NET1;refseq.name_1=NM_001047160;refseq.name_2=NM_005863;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y200Y;refseq.proteinCoordStr_2=p.Y146Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=5485218;refseq.start_2=5485218;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr10 5531181 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=97.50;MQ0=0;OQ=1120.04;QD=16.47;RankSumP=0.187929;SB=-276.54;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.221A>G;refseq.codonCoord=74;refseq.end=5531181;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=353;refseq.name=NM_017422;refseq.name2=CALML5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K74R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=353;refseq.start=5531181;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr10 5531183 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=3.38;MQ=97.74;MQ0=0;OQ=1199.29;QD=18.17;RankSumP=0.552556;SB=-248.56;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.219G>A;refseq.codonCoord=73;refseq.end=5531183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_017422;refseq.name2=CALML5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A73A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=351;refseq.start=5531183;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr10 5531230 . T C 200.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=98.19;MQ0=0;OQ=4263.11;QD=36.44;RankSumP=1.00000;SB=-1885.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.172A>G;refseq.codonCoord=58;refseq.end=5531230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_017422;refseq.name2=CALML5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S58G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=304;refseq.start=5531230;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr10 5557366 . G A 175.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=98.61;MQ0=0;OQ=2234.69;QD=13.22;RankSumP=0.366160;SB=-963.73;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.318G>A;refseq.codonCoord=106;refseq.end=5557366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_005185;refseq.name2=CALML3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L106L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=443;refseq.start=5557366;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr10 5821634 . T G 177.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=98.95;MQ0=0;OQ=4294.59;QD=22.37;RankSumP=0.307437;SB=-1360.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1495T>G;refseq.codonCoord=499;refseq.end=5821634;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2120;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.C499G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=48;refseq.start=5821634;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr10 5821975 . A T 291.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.83;MQ0=0;OQ=8312.25;QD=20.32;RankSumP=0.390734;SB=-3341.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1836A>T;refseq.codonCoord=612;refseq.end=5821975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2461;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T612T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=389;refseq.start=5821975;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr10 5828290 . C T 82 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=186;Dels=0.00;HRun=2;HaplotypeScore=18.53;MQ=98.66;MQ0=0;QD=0.26;RankSumP=0.00132611;SB=95.32;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2900C>T;refseq.codonCoord=967;refseq.end=5828290;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3525;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S967F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=143;refseq.start=5828290;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr10 5828614 . G C 124.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=11.04;MQ=98.70;MQ0=0;OQ=6577.30;QD=20.75;RankSumP=0.182193;SB=-2585.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3224G>C;refseq.codonCoord=1075;refseq.end=5828614;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3849;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1075P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=467;refseq.start=5828614;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr10 5829967 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4577A>C;refseq.codonCoord=1526;refseq.end=5829967;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5202;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1526T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=1820;refseq.start=5829967;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr10 5830426 . T C 287.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.93;MQ0=0;OQ=4802.34;QD=16.91;RankSumP=0.309133;SB=-1902.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.5036T>C;refseq.codonCoord=1679;refseq.end=5830426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5661;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1679A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1571;refseq.start=5830426;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr10 5843374 . A G 177.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.83;MQ0=0;OQ=8607.79;QD=21.20;RankSumP=0.273618;SB=-2788.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.7108A>G;refseq.codonCoord=2370;refseq.end=5843374;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7733;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2370V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-67;refseq.start=5843374;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr10 5844537 . G A 125.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=97.12;MQ0=0;OQ=1406.64;QD=17.15;RankSumP=0.000865336;SB=-487.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.7211G>A;refseq.codonCoord=2404;refseq.end=5844537;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7836;refseq.name=NM_017782;refseq.name2=C10orf18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2404N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=37;refseq.start=5844537;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/0 chr10 5960127 . T C 62.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=3;HaplotypeScore=3.86;MQ=98.95;MQ0=0;OQ=4047.90;QD=37.48;RankSumP=1.00000;SB=-1900.83;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1058A>G;refseq.codingCoordStr_2=c.*64A>G;refseq.codingCoordStr_3=c.1058A>G;refseq.codonCoord_1=353;refseq.codonCoord_3=353;refseq.end_1=5960127;refseq.end_2=5960127;refseq.end_3=5960127;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1601;refseq.mrnaCoord_2=1522;refseq.mrnaCoord_3=1601;refseq.name2_1=ANKRD16;refseq.name2_2=ANKRD16;refseq.name2_3=ANKRD16;refseq.name_1=NM_001009941;refseq.name_2=NM_001009943;refseq.name_3=NM_019046;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q353R;refseq.proteinCoordStr_3=p.Q353R;refseq.referenceAA_1=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.spliceDist_3=-62;refseq.start_1=5960127;refseq.start_2=5960127;refseq.start_3=5960127;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr10 5965977 . C A 124.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=98.68;MQ0=0;OQ=13368.59;QD=37.45;RankSumP=1.00000;SB=-5858.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.648G>T;refseq.codingCoordStr_2=c.648G>T;refseq.codingCoordStr_3=c.648G>T;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.codonCoord_3=216;refseq.end_1=5965977;refseq.end_2=5965977;refseq.end_3=5965977;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1191;refseq.mrnaCoord_2=1191;refseq.mrnaCoord_3=1191;refseq.name2_1=ANKRD16;refseq.name2_2=ANKRD16;refseq.name2_3=ANKRD16;refseq.name_1=NM_001009941;refseq.name_2=NM_001009943;refseq.name_3=NM_019046;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G216G;refseq.proteinCoordStr_2=p.G216G;refseq.proteinCoordStr_3=p.G216G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=5965977;refseq.start_2=5965977;refseq.start_3=5965977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chr10 6042384 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=4.78840e-09;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.535A>C;refseq.codingCoordStr_2=c.427A>C;refseq.codonCoord_1=179;refseq.codonCoord_2=143;refseq.end_1=6042384;refseq.end_2=6042384;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=617;refseq.mrnaCoord_2=850;refseq.name2_1=IL15RA;refseq.name2_2=IL15RA;refseq.name_1=NM_002189;refseq.name_2=NM_172200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T179P;refseq.proteinCoordStr_2=p.T143P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=6042384;refseq.start_2=6042384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr10 6048178 . C T 441.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=98.84;MQ0=0;OQ=6150.23;QD=42.42;RankSumP=1.00000;SB=-2385.77;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.219G>A;refseq.codingCoordStr_2=c.111G>A;refseq.codonCoord_1=73;refseq.codonCoord_2=37;refseq.end_1=6048178;refseq.end_2=6048178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=301;refseq.mrnaCoord_2=534;refseq.name2_1=IL15RA;refseq.name2_2=IL15RA;refseq.name_1=NM_002189;refseq.name_2=NM_172200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T73T;refseq.proteinCoordStr_2=p.T37T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=6048178;refseq.start_2=6048178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr10 6103514 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=703;Dels=0.00;HRun=0;HaplotypeScore=20.93;MQ=98.73;MQ0=0;OQ=12901.15;QD=18.35;RankSumP=0.267280;SB=-5285.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.516C>T;refseq.codonCoord=172;refseq.end=6103514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_000417;refseq.name2=IL2RA;refseq.positionType=CDS;refseq.proteinCoordStr=p.H172H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-68;refseq.start=6103514;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr10 6512897 . G T 253.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=99.00;MQ0=0;OQ=1666.72;QD=15.02;RankSumP=0.0328566;SB=-852.31;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1846C>A;refseq.codonCoord=616;refseq.end=6512897;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1921;refseq.name=NM_006257;refseq.name2=PRKCQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R616R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=6512897;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr10 6538729 . G A 190.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.81;MQ0=0;OQ=4055.83;QD=19.69;RankSumP=0.218249;SB=-1068.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1560C>T;refseq.codonCoord=520;refseq.end=6538729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1635;refseq.name=NM_006257;refseq.name2=PRKCQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I520I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=52;refseq.start=6538729;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr10 7325638 . A G 346.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1945.36;QD=38.14;RankSumP=1.00000;SB=-430.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1008T>C;refseq.codonCoord=336;refseq.end=7325638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_001029880;refseq.name2=SFMBT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D336D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=36;refseq.start=7325638;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr10 7645073 . C T 4018.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.34;MQ0=0;QD=41.01;RankSumP=1.00000;SB=-1740.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2808G>A;refseq.codingCoordStr_2=c.2166G>A;refseq.codonCoord_1=936;refseq.codonCoord_2=722;refseq.end_1=7645073;refseq.end_2=7645073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2887;refseq.mrnaCoord_2=2227;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name_1=NM_030569;refseq.name_2=NM_032817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P936P;refseq.proteinCoordStr_2=p.P722P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=281;refseq.spliceDist_2=281;refseq.start_1=7645073;refseq.start_2=7645073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=soap-filterIngatk GT 1/1 chr10 7645084 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.350000;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2797G>A;refseq.codingCoordStr_2=c.2155G>A;refseq.codonCoord_1=933;refseq.codonCoord_2=719;refseq.end_1=7645084;refseq.end_2=7645084;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2876;refseq.mrnaCoord_2=2216;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name_1=NM_030569;refseq.name_2=NM_032817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D933N;refseq.proteinCoordStr_2=p.D719N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=270;refseq.spliceDist_2=270;refseq.start_1=7645084;refseq.start_2=7645084;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=soap GT 0/1 chr10 7645107 . A G 88.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=95.60;MQ0=0;OQ=5797.74;QD=42.01;RankSumP=1.00000;SB=-1880.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2774T>C;refseq.codingCoordStr_2=c.2132T>C;refseq.codonCoord_1=925;refseq.codonCoord_2=711;refseq.end_1=7645107;refseq.end_2=7645107;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2853;refseq.mrnaCoord_2=2193;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name_1=NM_030569;refseq.name_2=NM_032817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F925S;refseq.proteinCoordStr_2=p.F711S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=247;refseq.spliceDist_2=247;refseq.start_1=7645107;refseq.start_2=7645107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr10 7648345 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2181A>C;refseq.codingCoordStr_2=c.1539A>C;refseq.codonCoord_1=727;refseq.codonCoord_2=513;refseq.end_1=7648345;refseq.end_2=7648345;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2260;refseq.mrnaCoord_2=1600;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name_1=NM_030569;refseq.name_2=NM_032817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A727A;refseq.proteinCoordStr_2=p.A513A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=7648345;refseq.start_2=7648345;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr10 7655151 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1992G>A;refseq.codingCoordStr_2=c.1992G>A;refseq.codingCoordStr_3=c.1350G>A;refseq.codonCoord_1=664;refseq.codonCoord_2=664;refseq.codonCoord_3=450;refseq.end_1=7655151;refseq.end_2=7655151;refseq.end_3=7655151;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2071;refseq.mrnaCoord_2=2071;refseq.mrnaCoord_3=1411;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name2_3=ITIH5;refseq.name_1=NM_001001851;refseq.name_2=NM_030569;refseq.name_3=NM_032817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K664K;refseq.proteinCoordStr_2=p.K664K;refseq.proteinCoordStr_3=p.K450K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=7655151;refseq.start_2=7655151;refseq.start_3=7655151;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 0/1 chr10 7658507 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=96.62;MQ0=0;OQ=698.34;QD=7.43;RankSumP=0.133019;SB=-318.13;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1893T>C;refseq.codingCoordStr_2=c.1893T>C;refseq.codingCoordStr_3=c.1251T>C;refseq.codonCoord_1=631;refseq.codonCoord_2=631;refseq.codonCoord_3=417;refseq.end_1=7658507;refseq.end_2=7658507;refseq.end_3=7658507;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1972;refseq.mrnaCoord_2=1972;refseq.mrnaCoord_3=1312;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name2_3=ITIH5;refseq.name_1=NM_001001851;refseq.name_2=NM_030569;refseq.name_3=NM_032817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D631D;refseq.proteinCoordStr_2=p.D631D;refseq.proteinCoordStr_3=p.D417D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.spliceDist_3=-86;refseq.start_1=7658507;refseq.start_2=7658507;refseq.start_3=7658507;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 0/1 chr10 7658692 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=146;Dels=0.00;HRun=2;HaplotypeScore=5.65;MQ=98.72;MQ0=0;OQ=2003.43;QD=13.72;RankSumP=8.96228e-06;SB=-878.57;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1708A>C;refseq.codingCoordStr_2=c.1708A>C;refseq.codingCoordStr_3=c.1066A>C;refseq.codonCoord_1=570;refseq.codonCoord_2=570;refseq.codonCoord_3=356;refseq.end_1=7658692;refseq.end_2=7658692;refseq.end_3=7658692;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1787;refseq.mrnaCoord_2=1787;refseq.mrnaCoord_3=1127;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name2_3=ITIH5;refseq.name_1=NM_001001851;refseq.name_2=NM_030569;refseq.name_3=NM_032817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T570P;refseq.proteinCoordStr_2=p.T570P;refseq.proteinCoordStr_3=p.T356P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-271;refseq.spliceDist_2=-271;refseq.spliceDist_3=-271;refseq.start_1=7658692;refseq.start_2=7658692;refseq.start_3=7658692;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=filterInsoap-gatk GT 1/0 chr10 7737598 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.135+2;refseq.codingCoordStr_2=c.135+2;refseq.end_1=7737598;refseq.end_2=7737598;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ITIH5;refseq.name2_2=ITIH5;refseq.name_1=NM_001001851;refseq.name_2=NM_030569;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=7737598;refseq.start_2=7737598;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr10 7803667 . A G 292.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=8.16;MQ=99.00;MQ0=0;OQ=7056.39;QD=38.99;RankSumP=1.00000;SB=-3330.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.788A>G;refseq.codonCoord=263;refseq.end=7803667;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=950;refseq.name=NM_002216;refseq.name2=ITIH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N263S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=50;refseq.start=7803667;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr10 8046804 . A G 316.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.97;MQ0=0;OQ=10104.93;QD=40.58;RankSumP=1.00000;SB=-4383.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1325A>G;refseq.codonCoord=442;refseq.end=8046804;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_031923;refseq.name2=TAF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N442S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-908;refseq.start=8046804;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr10 8047565 . G C 123.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.93;MQ0=0;OQ=5926.53;QD=46.67;RankSumP=1.00000;SB=-593.63;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2086G>C;refseq.codonCoord=696;refseq.end=8047565;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2086;refseq.name=NM_031923;refseq.name2=TAF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V696L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-147;refseq.start=8047565;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr10 8047566 . T C 327.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=97.92;MQ0=0;OQ=4325.91;QD=34.61;RankSumP=1.00000;SB=-536.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2087T>C;refseq.codonCoord=696;refseq.end=8047566;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2087;refseq.name=NM_031923;refseq.name2=TAF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V696A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-146;refseq.start=8047566;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 8133040 . G T 257.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.72;MQ0=0;OQ=1986.85;QD=16.56;RankSumP=0.147529;SB=-730.17;SecondBestBaseQ=28;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.end_1=8133207;refseq.end_2=8133040;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=1593;refseq.name2_1=FLJ45983;refseq.name2_2=FLJ45983;refseq.name_1=NR_024255;refseq.name_2=NR_024256;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=508;refseq.start_1=8132704;refseq.start_2=8133040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr10 8133181 . C T 14.44 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=99.00;MQ0=0;QD=1.31;SB=-25.59;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.end_1=8133207;refseq.end_2=8133181;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=1452;refseq.name2_1=FLJ45983;refseq.name2_2=FLJ45983;refseq.name_1=NR_024255;refseq.name_2=NR_024256;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=367;refseq.start_1=8132704;refseq.start_2=8133181;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:9,2:11:-8.02,-3.31,-37.91:47.11 chr10 8140653 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.91;MQ0=0;OQ=637.32;QD=14.48;RankSumP=0.209291;SB=-331.80;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.621C>T;refseq.codingCoordStr_2=c.621C>T;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=8140653;refseq.end_2=8140653;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1178;refseq.mrnaCoord_2=1178;refseq.name2_1=GATA3;refseq.name2_2=GATA3;refseq.name_1=NM_001002295;refseq.name_2=NM_002051;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A207A;refseq.proteinCoordStr_2=p.A207A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-158;refseq.spliceDist_2=-158;refseq.start_1=8140653;refseq.start_2=8140653;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr10 11339741 . A T 157.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=1;HaplotypeScore=11.22;MQ=98.61;MQ0=0;OQ=4966.53;QD=18.53;RankSumP=0.499661;SB=-1853.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.345A>T;refseq.codingCoordStr_2=c.417A>T;refseq.codingCoordStr_3=c.345A>T;refseq.codingCoordStr_4=c.438A>T;refseq.codonCoord_1=115;refseq.codonCoord_2=139;refseq.codonCoord_3=115;refseq.codonCoord_4=146;refseq.end_1=11339741;refseq.end_2=11339741;refseq.end_3=11339741;refseq.end_4=11339741;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=652;refseq.mrnaCoord_2=509;refseq.mrnaCoord_3=652;refseq.mrnaCoord_4=598;refseq.name2_1=CELF2;refseq.name2_2=CELF2;refseq.name2_3=CELF2;refseq.name2_4=CELF2;refseq.name_1=NM_001025076;refseq.name_2=NM_001025077;refseq.name_3=NM_001083591;refseq.name_4=NM_006561;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V115V;refseq.proteinCoordStr_2=p.V139V;refseq.proteinCoordStr_3=p.V115V;refseq.proteinCoordStr_4=p.V146V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.start_1=11339741;refseq.start_2=11339741;refseq.start_3=11339741;refseq.start_4=11339741;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=Intersection GT 0/1 chr10 11396166 . C T 180.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=9.47;MQ=93.39;MQ0=0;OQ=5617.52;QD=17.39;RankSumP=0.324757;SB=-1269.61;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.942C>T;refseq.codingCoordStr_2=c.1014C>T;refseq.codingCoordStr_3=c.942C>T;refseq.codingCoordStr_4=c.1035C>T;refseq.codonCoord_1=314;refseq.codonCoord_2=338;refseq.codonCoord_3=314;refseq.codonCoord_4=345;refseq.end_1=11396166;refseq.end_2=11396166;refseq.end_3=11396166;refseq.end_4=11396166;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1249;refseq.mrnaCoord_2=1106;refseq.mrnaCoord_3=1249;refseq.mrnaCoord_4=1195;refseq.name2_1=CELF2;refseq.name2_2=CELF2;refseq.name2_3=CELF2;refseq.name2_4=CELF2;refseq.name_1=NM_001025076;refseq.name_2=NM_001025077;refseq.name_3=NM_001083591;refseq.name_4=NM_006561;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L314L;refseq.proteinCoordStr_2=p.L338L;refseq.proteinCoordStr_3=p.L314L;refseq.proteinCoordStr_4=p.L345L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.spliceDist_4=59;refseq.start_1=11396166;refseq.start_2=11396166;refseq.start_3=11396166;refseq.start_4=11396166;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;set=Intersection GT 0/1 chr10 11829388 . G A 249.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=11.61;MQ=98.74;MQ0=0;OQ=17576.54;QD=41.26;RankSumP=1.00000;SB=-5804.71;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.205G>A;refseq.codonCoord=69;refseq.end=11829388;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A69T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=35;refseq.start=11829388;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 11829411 . G A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=567;Dels=0.00;HRun=2;HaplotypeScore=26.00;MQ=98.78;MQ0=0;OQ=24402.11;QD=43.04;RankSumP=1.00000;SB=-8182.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.228G>A;refseq.codonCoord=76;refseq.end=11829411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K76K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=58;refseq.start=11829411;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr10 11837442 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=311;Dels=0.00;HRun=3;HaplotypeScore=7.04;MQ=97.50;MQ0=0;OQ=11855.26;QD=38.12;RankSumP=1.00000;SB=-5649.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.420T>C;refseq.codonCoord=140;refseq.end=11837442;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V140V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=30;refseq.start=11837442;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr10 11837473 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=29.23;MQ=96.39;MQ0=0;OQ=6322.11;QD=26.90;RankSumP=1.00000;SB=-2060.68;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.451G>A;refseq.codonCoord=151;refseq.end=11837473;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=61;refseq.start=11837473;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 11837506 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=11.89;MQ=96.27;MQ0=0;OQ=2167.25;QD=14.95;RankSumP=0.477371;SB=-295.20;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.484G>A;refseq.codonCoord=162;refseq.end=11837506;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D162N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=94;refseq.start=11837506;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr10 11845255 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.75;MQ0=0;OQ=660.67;QD=9.05;RankSumP=0.152750;SB=-281.43;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.618T>C;refseq.codonCoord=206;refseq.end=11845255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G206G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=27;refseq.start=11845255;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr10 11845360 . A G 150.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=97.99;MQ0=0;OQ=4374.50;QD=32.40;RankSumP=1.00000;SB=-1900.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.723A>G;refseq.codonCoord=241;refseq.end=11845360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A241A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=132;refseq.start=11845360;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 11845363 . G A 245.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=98.24;MQ0=0;OQ=4985.55;QD=36.66;RankSumP=1.00000;SB=-2363.74;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.726G>A;refseq.codonCoord=242;refseq.end=11845363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_024693;refseq.name2=ECHDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S242S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=135;refseq.start=11845363;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr10 11951770 . G A 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=96.15;MQ0=0;OQ=177.37;QD=13.64;RankSumP=0.577381;SB=-10.00;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.667G>A;refseq.codonCoord=223;refseq.end=11951770;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_153256;refseq.name2=C10orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.G223R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=276;refseq.start=11951770;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr10 12086552 . T C 131.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=633.85;QD=15.09;RankSumP=0.484533;SB=-162.76;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1487A>G;refseq.codingCoordStr_2=c.1487A>G;refseq.codonCoord_1=496;refseq.codonCoord_2=496;refseq.end_1=12086552;refseq.end_2=12086552;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1560;refseq.mrnaCoord_2=1616;refseq.name2_1=UPF2;refseq.name2_2=UPF2;refseq.name_1=NM_015542;refseq.name_2=NM_080599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N496S;refseq.proteinCoordStr_2=p.N496S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=12086552;refseq.start_2=12086552;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr10 12151096 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=8.25;MQ=97.91;MQ0=0;OQ=1565.83;QD=30.11;RankSumP=1.00000;SB=-124.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.58T>C;refseq.codonCoord=20;refseq.end=12151096;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=157;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F20L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-97;refseq.start=12151096;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr10 12171087 . T G 101.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=434;Dels=0.00;HRun=1;HaplotypeScore=8.40;MQ=98.63;MQ0=0;OQ=8290.54;QD=19.10;RankSumP=0.380832;SB=-3138.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.814T>G;refseq.codonCoord=272;refseq.end=12171087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y272D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=97;refseq.start=12171087;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr10 12171224 . C T 185.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=6.99;MQ=98.67;MQ0=0;OQ=3083.62;QD=15.12;RankSumP=0.0302225;SB=-944.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.951C>T;refseq.codonCoord=317;refseq.end=12171224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N317N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-37;refseq.start=12171224;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr10 12183111 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=514;Dels=0.00;HRun=1;HaplotypeScore=31.54;MQ=98.46;MQ0=0;OQ=24659.08;QD=47.97;RankSumP=1.00000;SB=-9299.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1821C>G;refseq.codonCoord=607;refseq.end=12183111;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1920;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I607M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=65;refseq.start=12183111;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr10 12188265 . A C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=3;HaplotypeScore=7.95;MQ=98.89;MQ0=0;OQ=12270.45;QD=40.50;RankSumP=1.00000;SB=-5041.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1911A>C;refseq.codonCoord=637;refseq.end=12188265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2010;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P637P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=15;refseq.start=12188265;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr10 12188292 . T C 282.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=98.92;MQ0=0;OQ=12958.36;QD=38.57;RankSumP=1.00000;SB=-5284.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1938T>C;refseq.codonCoord=646;refseq.end=12188292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2037;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F646F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=42;refseq.start=12188292;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr10 12189945 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=470;Dels=0.00;HRun=1;HaplotypeScore=26.51;MQ=98.63;MQ0=0;OQ=8354.08;QD=17.77;RankSumP=0.155611;SB=-2630.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2079C>T;refseq.codonCoord=693;refseq.end=12189945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2178;refseq.name=NM_018706;refseq.name2=DHTKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I693I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=32;refseq.start=12189945;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr10 12249758 . T C 160.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=622;Dels=0.00;HRun=0;HaplotypeScore=8.20;MQ=98.87;MQ0=0;OQ=10125.41;QD=16.28;RankSumP=0.419607;SB=-3732.35;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_4=c.609A>G;refseq.codonCoord_4=203;refseq.end_1=12251252;refseq.end_2=12249758;refseq.end_3=12249758;refseq.end_4=12249758;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1392;refseq.mrnaCoord_3=1525;refseq.mrnaCoord_4=1025;refseq.name2_1=SEC61A2;refseq.name2_2=SEC61A2;refseq.name2_3=SEC61A2;refseq.name2_4=NUDT5;refseq.name_1=NM_001142627;refseq.name_2=NR_024576;refseq.name_3=NR_024577;refseq.name_4=NM_014142;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.A203A;refseq.referenceAA_4=Ala;refseq.referenceCodon_4=GCA;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceDist_4=59;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=12244305;refseq.start_2=12249758;refseq.start_3=12249758;refseq.start_4=12249758;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Ala;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr10 12907604 . C G 263.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.96;MQ0=0;OQ=4247.73;QD=21.56;RankSumP=0.314707;SB=-1362.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.948C>G;refseq.codingCoordStr_2=c.948C>G;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.end_1=12907604;refseq.end_2=12907604;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1183;refseq.mrnaCoord_2=1183;refseq.name2_1=CAMK1D;refseq.name2_2=CAMK1D;refseq.name_1=NM_020397;refseq.name_2=NM_153498;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V316V;refseq.proteinCoordStr_2=p.V316V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=12907604;refseq.start_2=12907604;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr10 12980461 . A G 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.16;MQ0=0;OQ=729.81;QD=26.06;RankSumP=1.00000;SB=-180.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.774T>C;refseq.codonCoord=258;refseq.end=12980461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_031455;refseq.name2=CCDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N258N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=225;refseq.start=12980461;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr10 13206082 . A G 372.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=4278.52;QD=40.36;RankSumP=1.00000;SB=-658.21;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.964A>G;refseq.codingCoordStr_2=c.964A>G;refseq.codingCoordStr_3=c.964A>G;refseq.codingCoordStr_4=c.964A>G;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.codonCoord_3=322;refseq.codonCoord_4=322;refseq.end_1=13206082;refseq.end_2=13206082;refseq.end_3=13206082;refseq.end_4=13206082;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1417;refseq.mrnaCoord_2=1348;refseq.mrnaCoord_3=1402;refseq.mrnaCoord_4=1196;refseq.name2_1=OPTN;refseq.name2_2=OPTN;refseq.name2_3=OPTN;refseq.name2_4=OPTN;refseq.name_1=NM_001008211;refseq.name_2=NM_001008212;refseq.name_3=NM_001008213;refseq.name_4=NM_021980;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K322E;refseq.proteinCoordStr_2=p.K322E;refseq.proteinCoordStr_3=p.K322E;refseq.proteinCoordStr_4=p.K322E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=13206082;refseq.start_2=13206082;refseq.start_3=13206082;refseq.start_4=13206082;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/1 chr10 13254759 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=98.74;MQ0=0;OQ=6901.57;QD=23.72;RankSumP=0.0816880;SB=-2309.45;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.580G>C;refseq.codingCoordStr_2=c.583G>C;refseq.codonCoord_1=194;refseq.codonCoord_2=195;refseq.end_1=13254759;refseq.end_2=13254759;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=681;refseq.mrnaCoord_2=684;refseq.name2_1=MCM10;refseq.name2_2=MCM10;refseq.name_1=NM_018518;refseq.name_2=NM_182751;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A194P;refseq.proteinCoordStr_2=p.A195P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=13254759;refseq.start_2=13254759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr10 13270940 . C T 106.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.74;MQ0=0;OQ=720.17;QD=16.37;RankSumP=0.211944;SB=-276.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1269C>T;refseq.codingCoordStr_2=c.1272C>T;refseq.codonCoord_1=423;refseq.codonCoord_2=424;refseq.end_1=13270940;refseq.end_2=13270940;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1373;refseq.name2_1=MCM10;refseq.name2_2=MCM10;refseq.name_1=NM_018518;refseq.name_2=NM_182751;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S423S;refseq.proteinCoordStr_2=p.S424S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=13270940;refseq.start_2=13270940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr10 13274312 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1568A>C;refseq.codingCoordStr_2=c.1571A>C;refseq.codonCoord_1=523;refseq.codonCoord_2=524;refseq.end_1=13274312;refseq.end_2=13274312;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1669;refseq.mrnaCoord_2=1672;refseq.name2_1=MCM10;refseq.name2_2=MCM10;refseq.name_1=NM_018518;refseq.name_2=NM_182751;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D523A;refseq.proteinCoordStr_2=p.D524A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=13274312;refseq.start_2=13274312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr10 13274362 . A T 243.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.46;MQ0=0;OQ=2993.31;QD=14.39;RankSumP=0.369248;SB=-1089.72;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1618A>T;refseq.codingCoordStr_2=c.1621A>T;refseq.codonCoord_1=540;refseq.codonCoord_2=541;refseq.end_1=13274362;refseq.end_2=13274362;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1719;refseq.mrnaCoord_2=1722;refseq.name2_1=MCM10;refseq.name2_2=MCM10;refseq.name_1=NM_018518;refseq.name_2=NM_182751;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T540S;refseq.proteinCoordStr_2=p.T541S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=13274362;refseq.start_2=13274362;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr10 13315559 . T G 93.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=98.65;MQ0=0;OQ=3448.13;QD=36.30;RankSumP=1.00000;SB=-1332.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.205A>C;refseq.codonCoord=69;refseq.end=13315559;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_145314;refseq.name2=UCMA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R69R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-16;refseq.start=13315559;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr10 13377594 . G A 404.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.76;MQ0=0;OQ=5297.26;QD=42.04;RankSumP=1.00000;SB=-1303.41;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.-148C>T;refseq.codingCoordStr_2=c.153C>T;refseq.codonCoord_2=51;refseq.end_1=13377594;refseq.end_2=13377594;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=346;refseq.mrnaCoord_2=241;refseq.name2_1=PHYH;refseq.name2_2=PHYH;refseq.name_1=NM_001037537;refseq.name_2=NM_006214;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N51N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=13377594;refseq.start_2=13377594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.uorfChange_1=+1;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr10 13415912 . T C 343.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.02;MQ0=0;OQ=4072.33;QD=17.94;RankSumP=0.112383;SB=-1258.75;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.471A>G;refseq.codonCoord=157;refseq.end=13415912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_012247;refseq.name2=SEPHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T157T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=66;refseq.start=13415912;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr10 13574857 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.44;MQ0=0;OQ=7019.53;QD=42.54;RankSumP=1.00000;SB=-3016.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.480T>C;refseq.codingCoordStr_2=c.441T>C;refseq.codonCoord_1=160;refseq.codonCoord_2=147;refseq.end_1=13574857;refseq.end_2=13574857;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=607;refseq.mrnaCoord_2=738;refseq.name2_1=BEND7;refseq.name2_2=BEND7;refseq.name_1=NM_001100912;refseq.name_2=NM_152751;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P160P;refseq.proteinCoordStr_2=p.P147P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=13574857;refseq.start_2=13574857;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr10 13693659 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=565;Dels=0.00;HRun=1;HaplotypeScore=16.53;MQ=98.83;MQ0=0;OQ=11229.08;QD=19.87;RankSumP=0.149269;SB=-4496.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=13693659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_003675;refseq.name2=PRPF18;refseq.positionType=CDS;refseq.proteinCoordStr=p.K183K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-31;refseq.start=13693659;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 13739344 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.000919481;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2251A>C;refseq.codonCoord=751;refseq.end=13739344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2603;refseq.name=NM_018027;refseq.name2=FRMD4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T751P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=185;refseq.start=13739344;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 13756948 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1220A>G;refseq.codonCoord=407;refseq.end=13756948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1572;refseq.name=NM_018027;refseq.name2=FRMD4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E407G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-32;refseq.start=13756948;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 14936161 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.766C>G;refseq.codonCoord=256;refseq.end=14936161;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=907;refseq.name=NM_016299;refseq.name2=HSPA14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R256G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=32;refseq.start=14936161;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr10 14983182 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=15.05;MQ=98.91;MQ0=0;OQ=8445.18;QD=23.52;RankSumP=0.358665;SB=-3238.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.861C>G;refseq.codonCoord=287;refseq.end=14983182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1092;refseq.name=NM_024670;refseq.name2=SUV39H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L287L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=45;refseq.start=14983182;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr10 15014911 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=803;Dels=0.00;HRun=0;HaplotypeScore=8.50;MQ=93.13;MQ0=31;OQ=15434.39;QD=19.22;RankSumP=0.365800;SB=-5309.77;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.728A>G;refseq.codingCoordStr_2=c.368A>G;refseq.codingCoordStr_3=c.368A>G;refseq.codingCoordStr_4=c.383A>G;refseq.codonCoord_1=243;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.codonCoord_4=128;refseq.end_1=15014911;refseq.end_2=15014911;refseq.end_3=15014911;refseq.end_4=15014911;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=813;refseq.mrnaCoord_2=898;refseq.mrnaCoord_3=1220;refseq.mrnaCoord_4=757;refseq.name2_1=DCLRE1C;refseq.name2_2=DCLRE1C;refseq.name2_3=DCLRE1C;refseq.name2_4=DCLRE1C;refseq.name_1=NM_001033855;refseq.name_2=NM_001033857;refseq.name_3=NM_001033858;refseq.name_4=NM_022487;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H243R;refseq.proteinCoordStr_2=p.H123R;refseq.proteinCoordStr_3=p.H123R;refseq.proteinCoordStr_4=p.H128R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.start_1=15014911;refseq.start_2=15014911;refseq.start_3=15014911;refseq.start_4=15014911;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;set=Intersection GT 1/0 chr10 15016733 . G C 263.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=5.68;MQ=94.13;MQ0=0;OQ=4572.64;QD=19.88;RankSumP=0.272212;SB=-1724.60;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.512C>G;refseq.codingCoordStr_2=c.152C>G;refseq.codingCoordStr_3=c.152C>G;refseq.codingCoordStr_4=c.167C>G;refseq.codonCoord_1=171;refseq.codonCoord_2=51;refseq.codonCoord_3=51;refseq.codonCoord_4=56;refseq.end_1=15016733;refseq.end_2=15016733;refseq.end_3=15016733;refseq.end_4=15016733;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=597;refseq.mrnaCoord_2=682;refseq.mrnaCoord_3=1004;refseq.mrnaCoord_4=541;refseq.name2_1=DCLRE1C;refseq.name2_2=DCLRE1C;refseq.name2_3=DCLRE1C;refseq.name2_4=DCLRE1C;refseq.name_1=NM_001033855;refseq.name_2=NM_001033857;refseq.name_3=NM_001033858;refseq.name_4=NM_022487;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P171R;refseq.proteinCoordStr_2=p.P51R;refseq.proteinCoordStr_3=p.P51R;refseq.proteinCoordStr_4=p.P56R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.spliceDist_4=-26;refseq.start_1=15016733;refseq.start_2=15016733;refseq.start_3=15016733;refseq.start_4=15016733;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;refseq.variantCodon_4=CGA;set=Intersection GT 0/1 chr10 15048499 . A C 448.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=4638.12;QD=40.69;RankSumP=1.00000;SB=-1553.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.26A>C;refseq.codonCoord=9;refseq.end=15048499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_001080836;refseq.name2=MEIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K9T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=55;refseq.start=15048499;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr10 15146447 . A G 213.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=3145.19;QD=15.49;RankSumP=0.431538;SB=-1294.15;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.342A>G;refseq.codingCoordStr_2=c.501A>G;refseq.codonCoord_1=114;refseq.codonCoord_2=167;refseq.end_1=15146447;refseq.end_2=15146447;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=596;refseq.mrnaCoord_2=755;refseq.name2_1=OLAH;refseq.name2_2=OLAH;refseq.name_1=NM_001039702;refseq.name_2=NM_018324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L114L;refseq.proteinCoordStr_2=p.L167L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=15146447;refseq.start_2=15146447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr10 15452980 . C A 36.46 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=9.12;RankSumP=0.166667;SB=-43.37;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.78G>T;refseq.codonCoord=26;refseq.end=15452980;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=85;refseq.name=NM_001010924;refseq.name2=FAM171A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E26D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-20;refseq.start=15452980;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr10 15613056 . A G 187.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.69;MQ0=0;OQ=7707.17;QD=41.89;RankSumP=1.00000;SB=-1491.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2981T>C;refseq.codonCoord=994;refseq.end=15613056;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2981;refseq.name=NM_003638;refseq.name2=ITGA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V994A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=15613056;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 15766094 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=165;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.85;MQ0=0;OQ=2337.43;QD=14.17;RankSumP=0.465136;SB=-704.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=15766094;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_003638;refseq.name2=ITGA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=39;refseq.start=15766094;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr10 16587064 . A G 344.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=98.89;MQ0=0;OQ=6133.25;QD=17.42;RankSumP=0.436947;SB=-2264.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.738A>G;refseq.codingCoordStr_2=c.738A>G;refseq.codonCoord_1=246;refseq.codonCoord_2=246;refseq.end_1=16587064;refseq.end_2=16587064;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=945;refseq.name2_1=PTER;refseq.name2_2=PTER;refseq.name_1=NM_001001484;refseq.name_2=NM_030664;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q246Q;refseq.proteinCoordStr_2=p.Q246Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=16587064;refseq.start_2=16587064;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr10 16602606 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=326;Dels=0.00;HRun=1;HaplotypeScore=26.84;MQ=98.46;MQ0=0;OQ=6166.69;QD=18.92;RankSumP=0.491084;SB=-2201.05;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=16602606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_001010908;refseq.name2=C1QL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H155H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-124;refseq.start=16602606;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr10 16922524 . T C 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.01;MQ0=5;OQ=1009.90;QD=30.60;RankSumP=1.00000;SB=-174.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.9843A>G;refseq.codonCoord=3281;refseq.end=16922524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9895;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3281T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=17;refseq.start=16922524;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 16983377 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=616;Dels=0.00;HRun=1;HaplotypeScore=23.74;MQ=98.71;MQ0=0;OQ=29264.56;QD=47.51;RankSumP=1.00000;SB=-9686.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.8150C>G;refseq.codonCoord=2717;refseq.end=16983377;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8202;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2717W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-35;refseq.start=16983377;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr10 17007407 . C T 284.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=94.53;MQ0=3;OQ=5928.90;QD=38.75;RankSumP=1.00000;SB=-1947.05;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.6485G>A;refseq.codonCoord=2162;refseq.end=17007407;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6537;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2162Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=23;refseq.start=17007407;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr10 17064509 . G A 317.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=99.00;MQ0=0;OQ=8452.62;QD=41.64;RankSumP=0.470106;SB=-3968.48;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4675C>T;refseq.codonCoord=1559;refseq.end=17064509;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4727;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1559S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-21;refseq.start=17064509;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/0 chr10 17064621 . A T 389.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=3147.15;QD=38.85;RankSumP=1.00000;SB=-872.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4563T>A;refseq.codonCoord=1521;refseq.end=17064621;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4615;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1521I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=38;refseq.start=17064621;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr10 17187527 . G T 222.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.76;MQ0=0;OQ=4383.67;QD=19.06;RankSumP=0.268321;SB=-977.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1165C>A;refseq.codonCoord=389;refseq.end=17187527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1217;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P389T;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=54;refseq.start=17187527;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr10 17196157 . A G 229.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=14.80;MQ=98.86;MQ0=0;OQ=2848.38;QD=15.65;RankSumP=0.305285;SB=-1429.92;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.758T>C;refseq.codonCoord=253;refseq.end=17196157;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_001081;refseq.name2=CUBN;refseq.positionType=CDS;refseq.proteinCoordStr=p.F253S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=38;refseq.start=17196157;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr10 17244193 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=97.67;MQ0=0;OQ=1974.86;QD=9.49;RankSumP=0.155597;SB=-830.85;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.301C>T;refseq.codonCoord_3=101;refseq.end_1=17250835;refseq.end_2=17250835;refseq.end_3=17244193;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=349;refseq.name2_1=TRDMT1;refseq.name2_2=TRDMT1;refseq.name2_3=TRDMT1;refseq.name_1=NM_176081;refseq.name_2=NM_176083;refseq.name_3=NM_004412;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H101Y;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAT;refseq.spliceDist_3=-23;refseq.start_1=17242390;refseq.start_2=17243564;refseq.start_3=17244193;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Tyr;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr10 17256562 . C T 156.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=10.20;MQ=98.84;MQ0=0;OQ=6783.47;QD=19.72;RankSumP=0.390003;SB=-1411.61;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.168G>A;refseq.codingCoordStr_2=c.168G>A;refseq.codingCoordStr_3=c.168G>A;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.end_1=17256562;refseq.end_2=17256562;refseq.end_3=17256562;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=216;refseq.mrnaCoord_2=216;refseq.mrnaCoord_3=216;refseq.name2_1=TRDMT1;refseq.name2_2=TRDMT1;refseq.name2_3=TRDMT1;refseq.name_1=NM_004412;refseq.name_2=NM_176081;refseq.name_3=NM_176083;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T56T;refseq.proteinCoordStr_2=p.T56T;refseq.proteinCoordStr_3=p.T56T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=17256562;refseq.start_2=17256562;refseq.start_3=17256562;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr10 17311569 . A C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500003;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.142A>C;refseq.codonCoord=48;refseq.end=17311569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_003380;refseq.name2=VIM;refseq.positionType=CDS;refseq.proteinCoordStr=p.T48P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=289;refseq.start=17311569;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 17676315 . G A 421.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.82;MQ0=0;OQ=7282.43;QD=40.01;RankSumP=1.00000;SB=-3327.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.679C>T;refseq.codonCoord=227;refseq.end=17676315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_014241;refseq.name2=PTPLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.H227Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=74;refseq.start=17676315;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr10 17796602 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=49.80;MQ=96.99;MQ0=0;OQ=1666.72;QD=10.82;RankSumP=4.36875e-05;SB=-648.79;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1440T>C;refseq.codonCoord=480;refseq.end=17796602;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1655;refseq.name=NM_003473;refseq.name2=STAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y480Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=55;refseq.start=17796602;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 1/0 chr10 17796611 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1449T>C;refseq.codonCoord=483;refseq.end=17796611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_003473;refseq.name2=STAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.P483P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=64;refseq.start=17796611;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 17796636 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1474A>C;refseq.codonCoord=492;refseq.end=17796636;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_003473;refseq.name2=STAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.T492P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=89;refseq.start=17796636;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr10 17796746 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1584T>C;refseq.codonCoord=528;refseq.end=17796746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1799;refseq.name=NM_003473;refseq.name2=STAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.P528P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=199;refseq.start=17796746;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 17915822 rs2477664 T A 6.91 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=14.30;MQ0=48;OQ=603.15;QD=8.74;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.780T>A;refseq.codingCoordStr_2=c.780T>A;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=17915822;refseq.end_2=17915822;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=883;refseq.mrnaCoord_2=883;refseq.name2_1=MRC1L1;refseq.name2_2=MRC1;refseq.name_1=NM_001009567;refseq.name_2=NM_002438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I260I;refseq.proteinCoordStr_2=p.I260I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=17915822;refseq.start_2=17915822;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=gatk GT:AD:DP:GL:GQ 1/1:0,69:18:-63.90,-5.42,-0.01:54.16 chr10 17989629 . G A 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3987G>A;refseq.codingCoordStr_2=c.3987G>A;refseq.codonCoord_1=1329;refseq.codonCoord_2=1329;refseq.end_1=17989629;refseq.end_2=17989629;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4090;refseq.mrnaCoord_2=4090;refseq.name2_1=MRC1L1;refseq.name2_2=MRC1;refseq.name_1=NM_001009567;refseq.name_2=NM_002438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1329R;refseq.proteinCoordStr_2=p.R1329R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=17989629;refseq.start_2=17989629;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=FilteredInAll GT 1/1 chr10 18162722 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=64.41;MQ0=88;OQ=5101.82;QD=23.09;RankSumP=1.00000;SB=-241.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.726A>G;refseq.codingCoordStr_2=c.726A>G;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.end_1=18162722;refseq.end_2=18162722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=829;refseq.name2_1=MRC1L1;refseq.name2_2=MRC1;refseq.name_1=NM_001009567;refseq.name_2=NM_002438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q242Q;refseq.proteinCoordStr_2=p.Q242Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=18162722;refseq.start_2=18162722;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr10 18282310 . T C 444.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.78;MQ0=0;OQ=6745.02;QD=37.89;RankSumP=1.00000;SB=-2362.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.99T>C;refseq.codingCoordStr_2=c.99T>C;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=18282310;refseq.end_2=18282310;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=372;refseq.name2_1=SLC39A12;refseq.name2_2=SLC39A12;refseq.name_1=NM_001145195;refseq.name_2=NM_152725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D33D;refseq.proteinCoordStr_2=p.D33D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-163;refseq.spliceDist_2=-163;refseq.start_1=18282310;refseq.start_2=18282310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr10 18294612 . C A 220.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=98.52;MQ0=0;OQ=1553.09;QD=16.18;RankSumP=0.143230;SB=-565.28;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.738C>A;refseq.codingCoordStr_2=c.738C>A;refseq.codonCoord_1=246;refseq.codonCoord_2=246;refseq.end_1=18294612;refseq.end_2=18294612;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=1011;refseq.name2_1=SLC39A12;refseq.name2_2=SLC39A12;refseq.name_1=NM_001145195;refseq.name_2=NM_152725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T246T;refseq.proteinCoordStr_2=p.T246T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=18294612;refseq.start_2=18294612;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr10 18306995 . G A 204.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=1;HaplotypeScore=6.20;MQ=98.91;MQ0=0;OQ=6195.93;QD=21.82;RankSumP=0.249300;SB=-2512.58;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.910G>A;refseq.codingCoordStr_2=c.910G>A;refseq.codonCoord_1=304;refseq.codonCoord_2=304;refseq.end_1=18306995;refseq.end_2=18306995;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1183;refseq.mrnaCoord_2=1183;refseq.name2_1=SLC39A12;refseq.name2_2=SLC39A12;refseq.name_1=NM_001145195;refseq.name_2=NM_152725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V304I;refseq.proteinCoordStr_2=p.V304I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=18306995;refseq.start_2=18306995;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr10 18310364 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1042T>C;refseq.codingCoordStr_2=c.1042T>C;refseq.codonCoord_1=348;refseq.codonCoord_2=348;refseq.end_1=18310364;refseq.end_2=18310364;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1315;refseq.mrnaCoord_2=1315;refseq.name2_1=SLC39A12;refseq.name2_2=SLC39A12;refseq.name_1=NM_001145195;refseq.name_2=NM_152725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S348P;refseq.proteinCoordStr_2=p.S348P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=18310364;refseq.start_2=18310364;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr10 18867280 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_1=c.1303A>C;refseq.codingCoordStr_2=c.1270A>C;refseq.codingCoordStr_3=c.1324A>C;refseq.codingCoordStr_4=c.1384A>C;refseq.codingCoordStr_5=c.1312A>C;refseq.codingCoordStr_6=c.1306A>C;refseq.codingCoordStr_7=c.1354A>C;refseq.codingCoordStr_8=c.1468A>C;refseq.codingCoordStr_9=c.1396A>C;refseq.codonCoord_1=435;refseq.codonCoord_2=424;refseq.codonCoord_3=442;refseq.codonCoord_4=462;refseq.codonCoord_5=438;refseq.codonCoord_6=436;refseq.codonCoord_7=452;refseq.codonCoord_8=490;refseq.codonCoord_9=466;refseq.end_1=18867280;refseq.end_2=18867280;refseq.end_3=18867280;refseq.end_4=18867280;refseq.end_5=18867280;refseq.end_6=18867280;refseq.end_7=18867280;refseq.end_8=18867280;refseq.end_9=18867280;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1918;refseq.mrnaCoord_2=1637;refseq.mrnaCoord_3=1772;refseq.mrnaCoord_4=1751;refseq.mrnaCoord_5=1679;refseq.mrnaCoord_6=1548;refseq.mrnaCoord_7=1414;refseq.mrnaCoord_8=1528;refseq.mrnaCoord_9=1456;refseq.name2_1=CACNB2;refseq.name2_2=CACNB2;refseq.name2_3=CACNB2;refseq.name2_4=CACNB2;refseq.name2_5=CACNB2;refseq.name2_6=CACNB2;refseq.name2_7=CACNB2;refseq.name2_8=CACNB2;refseq.name2_9=CACNB2;refseq.name_1=NM_000724;refseq.name_2=NM_001167945;refseq.name_3=NM_201570;refseq.name_4=NM_201571;refseq.name_5=NM_201572;refseq.name_6=NM_201590;refseq.name_7=NM_201593;refseq.name_8=NM_201596;refseq.name_9=NM_201597;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.T435P;refseq.proteinCoordStr_2=p.T424P;refseq.proteinCoordStr_3=p.T442P;refseq.proteinCoordStr_4=p.T462P;refseq.proteinCoordStr_5=p.T438P;refseq.proteinCoordStr_6=p.T436P;refseq.proteinCoordStr_7=p.T452P;refseq.proteinCoordStr_8=p.T490P;refseq.proteinCoordStr_9=p.T466P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceAA_9=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.referenceCodon_7=ACC;refseq.referenceCodon_8=ACC;refseq.referenceCodon_9=ACC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.spliceDist_5=-21;refseq.spliceDist_6=-21;refseq.spliceDist_7=-21;refseq.spliceDist_8=-21;refseq.spliceDist_9=-21;refseq.start_1=18867280;refseq.start_2=18867280;refseq.start_3=18867280;refseq.start_4=18867280;refseq.start_5=18867280;refseq.start_6=18867280;refseq.start_7=18867280;refseq.start_8=18867280;refseq.start_9=18867280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantAA_9=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;refseq.variantCodon_9=CCC;set=FilteredInAll GT 0/1 chr10 20546424 . G A 336.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=98.26;MQ0=0;OQ=6163.24;QD=20.54;RankSumP=0.234157;SB=-1393.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1186G>A;refseq.codonCoord=396;refseq.end=20546424;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1823;refseq.name=NM_032812;refseq.name2=PLXDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V396I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=64;refseq.start=20546424;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr10 20574339 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=30.51;MQ=98.63;MQ0=0;OQ=7953.07;QD=15.21;RankSumP=0.381623;SB=-740.62;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1372A>G;refseq.codonCoord=458;refseq.end=20574339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_032812;refseq.name2=PLXDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I458V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=60;refseq.start=20574339;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr10 21114730 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=3;HaplotypeScore=3.73;MQ=98.81;MQ0=0;OQ=4433.18;QD=18.78;RankSumP=0.431185;SB=-642.49;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.*88A>G;refseq.codingCoordStr_2=c.2997A>G;refseq.codingCoordStr_3=c.765A>G;refseq.codonCoord_2=999;refseq.codonCoord_3=255;refseq.end_1=21114730;refseq.end_2=21114730;refseq.end_3=21114730;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1117;refseq.mrnaCoord_2=3394;refseq.mrnaCoord_3=1119;refseq.name2_1=NEBL;refseq.name2_2=NEBL;refseq.name2_3=NEBL;refseq.name_1=NM_001173484;refseq.name_2=NM_006393;refseq.name_3=NM_213569;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T999T;refseq.proteinCoordStr_3=p.T255T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=127;refseq.spliceDist_2=129;refseq.spliceDist_3=129;refseq.start_1=21114730;refseq.start_2=21114730;refseq.start_3=21114730;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr10 21454898 . C G 212.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=5.84;MQ=98.61;MQ0=0;OQ=5971.71;QD=42.35;RankSumP=1.00000;SB=-1556.69;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.298G>C;refseq.codonCoord_3=100;refseq.end_1=21501307;refseq.end_2=21501307;refseq.end_3=21454898;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=318;refseq.name2_1=NEBL;refseq.name2_2=NEBL;refseq.name2_3=C10orf113;refseq.name_1=NM_001173484;refseq.name_2=NM_213569;refseq.name_3=NM_001010896;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D100H;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAT;refseq.spliceDist_3=161;refseq.start_1=21349147;refseq.start_2=21349147;refseq.start_3=21454898;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=His;refseq.variantCodon_3=CAT;set=Intersection GT 1/1 chr10 21475348 . A T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.0553897;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.66T>A;refseq.codonCoord_3=22;refseq.end_1=21501307;refseq.end_2=21501307;refseq.end_3=21475348;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=86;refseq.name2_1=NEBL;refseq.name2_2=NEBL;refseq.name2_3=C10orf113;refseq.name_1=NM_001173484;refseq.name_2=NM_213569;refseq.name_3=NM_001010896;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S22R;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGT;refseq.spliceDist_3=-72;refseq.start_1=21349147;refseq.start_2=21349147;refseq.start_3=21475348;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGA;set=soap GT 0/1 chr10 21475349 . C A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.0142810;SecondBestBaseQ=19;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.65G>T;refseq.codonCoord_3=22;refseq.end_1=21501307;refseq.end_2=21501307;refseq.end_3=21475349;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=85;refseq.name2_1=NEBL;refseq.name2_2=NEBL;refseq.name2_3=C10orf113;refseq.name_1=NM_001173484;refseq.name_2=NM_213569;refseq.name_3=NM_001010896;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S22I;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGT;refseq.spliceDist_3=-73;refseq.start_1=21349147;refseq.start_2=21349147;refseq.start_3=21475349;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ile;refseq.variantCodon_3=ATT;set=soap GT 1/0 chr10 21475350 . T A 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.385932;SecondBestBaseQ=24;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.64A>T;refseq.codonCoord_3=22;refseq.end_1=21501307;refseq.end_2=21501307;refseq.end_3=21475350;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=84;refseq.name2_1=NEBL;refseq.name2_2=NEBL;refseq.name2_3=C10orf113;refseq.name_1=NM_001173484;refseq.name_2=NM_213569;refseq.name_3=NM_001010896;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S22C;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGT;refseq.spliceDist_3=-74;refseq.start_1=21349147;refseq.start_2=21349147;refseq.start_3=21475350;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Cys;refseq.variantCodon_3=TGT;set=soap GT 1/0 chr10 21867802 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=12.26;MQ=98.61;MQ0=0;OQ=16889.98;QD=42.54;RankSumP=1.00000;SB=-8402.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.195G>A;refseq.codingCoordStr_2=c.195G>A;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=21867802;refseq.end_2=21867802;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=543;refseq.name2_1=MLLT10;refseq.name2_2=MLLT10;refseq.name_1=NM_001009569;refseq.name_2=NM_004641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P65P;refseq.proteinCoordStr_2=p.P65P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=21867802;refseq.start_2=21867802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr10 21941322 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.445G>C;refseq.codingCoordStr_2=c.445G>C;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=21941322;refseq.end_2=21941322;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=445;refseq.mrnaCoord_2=793;refseq.name2_1=MLLT10;refseq.name2_2=MLLT10;refseq.name_1=NM_001009569;refseq.name_2=NM_004641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A149P;refseq.proteinCoordStr_2=p.A149P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=21941322;refseq.start_2=21941322;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr10 22879634 . T C 290.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=12.64;MQ=98.87;MQ0=0;OQ=9930.46;QD=20.56;RankSumP=0.481704;SB=-3424.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.752A>G;refseq.codonCoord=251;refseq.end=22879634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_005028;refseq.name2=PIP4K2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N251S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-41;refseq.start=22879634;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr10 23290820 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.539A>G;refseq.codonCoord=180;refseq.end=23290820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_173081;refseq.name2=ARMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D180G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=23290820;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr10 23330958 . C T 226.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=99.00;MQ0=0;OQ=2553.13;QD=13.95;RankSumP=0.302891;SB=-1110.44;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1530C>T;refseq.codonCoord=510;refseq.end=23330958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1613;refseq.name=NM_173081;refseq.name2=ARMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D510D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-33;refseq.start=23330958;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr10 23337307 . C T 192.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=535.19;QD=16.22;RankSumP=0.725173;SB=-110.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1926C>T;refseq.codonCoord=642;refseq.end=23337307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_173081;refseq.name2=ARMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N642N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=23337307;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr10 23448284 . C T 346.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=7.21;MQ=98.84;MQ0=0;OQ=6913.18;QD=20.10;RankSumP=0.164641;SB=-2760.58;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=23448284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_012228;refseq.name2=MSRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S114S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=46;refseq.start=23448284;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr10 23522641 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=96;Dels=0.00;HRun=5;HaplotypeScore=1.15;MQ=98.73;MQ0=0;OQ=1619.47;QD=16.87;RankSumP=0.121295;SB=-302.38;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.787T>C;refseq.codonCoord=263;refseq.end=23522641;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_178161;refseq.name2=PTF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S263P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=23522641;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr10 24709883 . C G 121.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=11.95;MQ=98.75;MQ0=0;OQ=4640.06;QD=20.90;RankSumP=0.206246;SB=-1995.22;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.194C>G;refseq.codingCoordStr_2=c.434C>G;refseq.codingCoordStr_3=c.434C>G;refseq.codonCoord_1=65;refseq.codonCoord_2=145;refseq.codonCoord_3=145;refseq.end_1=24709883;refseq.end_2=24709883;refseq.end_3=24709883;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=837;refseq.mrnaCoord_3=837;refseq.name2_1=KIAA1217;refseq.name2_2=KIAA1217;refseq.name2_3=KIAA1217;refseq.name_1=NM_001098500;refseq.name_2=NM_001098501;refseq.name_3=NM_019590;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A65G;refseq.proteinCoordStr_2=p.A145G;refseq.proteinCoordStr_3=p.A145G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=24709883;refseq.start_2=24709883;refseq.start_3=24709883;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr10 24761952 . A C 459.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=99.00;MQ0=0;OQ=9570.08;QD=39.22;RankSumP=1.00000;SB=-2388.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.336A>C;refseq.codingCoordStr_2=c.576A>C;refseq.codingCoordStr_3=c.576A>C;refseq.codonCoord_1=112;refseq.codonCoord_2=192;refseq.codonCoord_3=192;refseq.end_1=24761952;refseq.end_2=24761952;refseq.end_3=24761952;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1145;refseq.mrnaCoord_2=979;refseq.mrnaCoord_3=979;refseq.name2_1=KIAA1217;refseq.name2_2=KIAA1217;refseq.name2_3=KIAA1217;refseq.name_1=NM_001098500;refseq.name_2=NM_001098501;refseq.name_3=NM_019590;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G112G;refseq.proteinCoordStr_2=p.G192G;refseq.proteinCoordStr_3=p.G192G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=24761952;refseq.start_2=24761952;refseq.start_3=24761952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr10 24802726 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1170A>C;refseq.codingCoordStr_2=c.1410A>C;refseq.codingCoordStr_3=c.1410A>C;refseq.codonCoord_1=390;refseq.codonCoord_2=470;refseq.codonCoord_3=470;refseq.end_1=24802726;refseq.end_2=24802726;refseq.end_3=24802726;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1979;refseq.mrnaCoord_2=1813;refseq.mrnaCoord_3=1813;refseq.name2_1=KIAA1217;refseq.name2_2=KIAA1217;refseq.name2_3=KIAA1217;refseq.name_1=NM_001098500;refseq.name_2=NM_001098501;refseq.name_3=NM_019590;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T390T;refseq.proteinCoordStr_2=p.T470T;refseq.proteinCoordStr_3=p.T470T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-270;refseq.spliceDist_2=-270;refseq.spliceDist_3=-270;refseq.start_1=24802726;refseq.start_2=24802726;refseq.start_3=24802726;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr10 24853460 . G A 158.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=99.00;MQ0=0;OQ=1354.10;QD=22.57;RankSumP=0.147461;SB=-583.62;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.2419G>A;refseq.codingCoordStr_2=c.2554G>A;refseq.codingCoordStr_3=c.2659G>A;refseq.codonCoord_1=807;refseq.codonCoord_2=852;refseq.codonCoord_3=887;refseq.end_1=24853460;refseq.end_2=24853460;refseq.end_3=24853460;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3228;refseq.mrnaCoord_2=2957;refseq.mrnaCoord_3=3062;refseq.name2_1=KIAA1217;refseq.name2_2=KIAA1217;refseq.name2_3=KIAA1217;refseq.name_1=NM_001098500;refseq.name_2=NM_001098501;refseq.name_3=NM_019590;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A807T;refseq.proteinCoordStr_2=p.A852T;refseq.proteinCoordStr_3=p.A887T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=203;refseq.spliceDist_2=203;refseq.spliceDist_3=203;refseq.start_1=24853460;refseq.start_2=24853460;refseq.start_3=24853460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr10 24913375 . C G 230.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=30.71;MQ0=30;OQ=2645.19;QD=14.61;RankSumP=0.312000;SB=-1144.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.5849G>C;refseq.codonCoord=1950;refseq.end=24913375;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6336;refseq.name=NM_020824;refseq.name2=ARHGAP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1950T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-832;refseq.start=24913375;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr10 24920235 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4075T>C;refseq.codonCoord=1359;refseq.end=24920235;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4562;refseq.name=NM_020824;refseq.name2=ARHGAP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1359P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=31;refseq.start=24920235;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 24948692 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=44.00;MQ0=75;OQ=1841.09;QD=8.98;RankSumP=0.674146;SB=-946.42;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2138A>G;refseq.codonCoord=713;refseq.end=24948692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_020824;refseq.name2=ARHGAP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.N713S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-285;refseq.start=24948692;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr10 24949114 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.333333;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1716G>C;refseq.codonCoord=572;refseq.end=24949114;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2203;refseq.name=NM_020824;refseq.name2=ARHGAP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.M572I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-707;refseq.start=24949114;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr10 24950070 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.760C>G;refseq.codonCoord=254;refseq.end=24950070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1247;refseq.name=NM_020824;refseq.name2=ARHGAP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.P254A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=235;refseq.start=24950070;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr10 25352695 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=7492.05;QD=42.09;RankSumP=1.00000;SB=-3265.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.537A>G;refseq.codonCoord=179;refseq.end=25352695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_024838;refseq.name2=THNSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G179G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=585;refseq.start=25352695;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr10 25353824 . C T 360.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=98.94;MQ0=0;OQ=5893.83;QD=40.09;RankSumP=1.00000;SB=-2820.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1666C>T;refseq.codonCoord=556;refseq.end=25353824;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1995;refseq.name=NM_024838;refseq.name2=THNSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L556L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=1714;refseq.start=25353824;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr10 25741347 . C G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=3495.80;QD=47.89;RankSumP=1.00000;SB=-1158.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1274C>G;refseq.codonCoord=425;refseq.end=25741347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_020752;refseq.name2=GPR158;refseq.positionType=CDS;refseq.proteinCoordStr=p.A425G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-62;refseq.start=25741347;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr10 25918032 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1844T>G;refseq.codonCoord=615;refseq.end=25918032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1904;refseq.name=NM_020752;refseq.name2=GPR158;refseq.positionType=CDS;refseq.proteinCoordStr=p.V615G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-49;refseq.start=25918032;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr10 26395912 . G A 422.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.66;MQ0=0;OQ=7636.45;QD=42.66;RankSumP=1.00000;SB=-2188.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.956G>A;refseq.codonCoord=319;refseq.end=26395912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1316;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R319H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=26395912;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr10 26395998 . A G 464.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=95.04;MQ0=0;OQ=7227.56;QD=39.71;RankSumP=1.00000;SB=-2037.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1042A>G;refseq.codonCoord=348;refseq.end=26395998;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I348V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-12;refseq.start=26395998;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr10 26397753 . C T 328.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=5251.30;QD=41.68;RankSumP=1.00000;SB=-1766.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1104C>T;refseq.codonCoord=368;refseq.end=26397753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1464;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y368Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=51;refseq.start=26397753;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr10 26397754 . G A 331.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=5392.42;QD=41.48;RankSumP=1.00000;SB=-1832.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1105G>A;refseq.codonCoord=369;refseq.end=26397754;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1465;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V369I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=52;refseq.start=26397754;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr10 26417337 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=146;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=2544.57;QD=17.43;RankSumP=0.386087;SB=-697.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1559C>T;refseq.codonCoord=520;refseq.end=26417337;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1919;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A520V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=26417337;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr10 26486318 . G A 143.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.51;MQ0=0;OQ=14013.24;QD=42.34;RankSumP=1.00000;SB=-6236.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2867G>A;refseq.codonCoord=956;refseq.end=26486318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3227;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S956N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=74;refseq.start=26486318;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr10 26502796 . G A 284.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5065.67;QD=43.67;RankSumP=1.00000;SB=-2433.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3597G>A;refseq.codonCoord=1199;refseq.end=26502796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3957;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1199E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=199;refseq.start=26502796;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr10 26503049 . A T 377.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2898.45;QD=37.64;RankSumP=1.00000;SB=-909.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3850A>T;refseq.codonCoord=1284;refseq.end=26503049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4210;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1284S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-444;refseq.start=26503049;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr10 26503136 . C A 393.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.96;MQ0=0;OQ=7512.89;QD=38.33;RankSumP=1.00000;SB=-3103.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3937C>A;refseq.codonCoord=1313;refseq.end=26503136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4297;refseq.name=NM_017433;refseq.name2=MYO3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1313S;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-357;refseq.start=26503136;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr10 26829983 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.390T>C;refseq.codonCoord=130;refseq.end=26829983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_019043;refseq.name2=APBB1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P130P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-64;refseq.start=26829983;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 26829986 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.393A>C;refseq.codonCoord=131;refseq.end=26829986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_019043;refseq.name2=APBB1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P131P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-61;refseq.start=26829986;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 27343611 . A T 118.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=1538.42;QD=19.47;RankSumP=0.463378;SB=-736.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4542T>A;refseq.codonCoord=1514;refseq.end=27343611;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4714;refseq.name=NM_014915;refseq.name2=ANKRD26;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1514L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=36;refseq.start=27343611;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr10 27357846 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.74;MQ0=0;OQ=1578.49;QD=12.94;RankSumP=0.113508;SB=-268.17;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3913G>A;refseq.codonCoord=1305;refseq.end=27357846;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4085;refseq.name=NM_014915;refseq.name2=ANKRD26;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1305I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=35;refseq.start=27357846;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr10 27421355 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=98.93;MQ0=0;OQ=1084.03;QD=10.32;RankSumP=0.432529;SB=-232.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.624A>G;refseq.codonCoord=208;refseq.end=27421355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_014915;refseq.name2=ANKRD26;refseq.positionType=CDS;refseq.proteinCoordStr=p.V208V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-15;refseq.start=27421355;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr10 27429203 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=5.44;MQ=98.19;MQ0=0;OQ=2384.05;QD=30.56;RankSumP=1.00000;SB=-825.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.59A>G;refseq.codonCoord=20;refseq.end=27429203;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_014915;refseq.name2=ANKRD26;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q20R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-184;refseq.start=27429203;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr10 27474489 . G A 158.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=98.76;MQ0=0;OQ=6129.64;QD=19.58;RankSumP=0.361477;SB=-2558.24;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.205C>T;refseq.codingCoordStr_2=c.376C>T;refseq.codonCoord_1=69;refseq.codonCoord_2=126;refseq.end_1=27474489;refseq.end_2=27474489;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=387;refseq.mrnaCoord_2=558;refseq.name2_1=YME1L1;refseq.name2_2=YME1L1;refseq.name_1=NM_014263;refseq.name_2=NM_139312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L69L;refseq.proteinCoordStr_2=p.L126L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=27474489;refseq.start_2=27474489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/0 chr10 27477970 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1554.25;QD=19.93;RankSumP=0.393558;SB=-301.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.39A>G;refseq.codingCoordStr_2=c.39A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=27477970;refseq.end_2=27477970;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=221;refseq.mrnaCoord_2=221;refseq.name2_1=YME1L1;refseq.name2_2=YME1L1;refseq.name_1=NM_014263;refseq.name_2=NM_139312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T13T;refseq.proteinCoordStr_2=p.T13T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=27477970;refseq.start_2=27477970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr10 27499676 . C T 169.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.73;MQ0=0;OQ=1760.40;QD=19.35;RankSumP=0.481591;SB=-818.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1782C>T;refseq.codingCoordStr_2=c.1782C>T;refseq.codingCoordStr_3=c.1782C>T;refseq.codonCoord_1=594;refseq.codonCoord_2=594;refseq.codonCoord_3=594;refseq.end_1=27499676;refseq.end_2=27499676;refseq.end_3=27499676;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2385;refseq.mrnaCoord_2=2385;refseq.mrnaCoord_3=2385;refseq.name2_1=MASTL;refseq.name2_2=MASTL;refseq.name2_3=MASTL;refseq.name_1=NM_001172303;refseq.name_2=NM_001172304;refseq.name_3=NM_032844;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I594I;refseq.proteinCoordStr_2=p.I594I;refseq.proteinCoordStr_3=p.I594I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-343;refseq.spliceDist_2=-343;refseq.spliceDist_3=-343;refseq.start_1=27499676;refseq.start_2=27499676;refseq.start_3=27499676;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr10 27515450 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=569;Dels=0.00;HRun=1;HaplotypeScore=18.14;MQ=98.65;MQ0=0;OQ=10329.72;QD=18.15;RankSumP=0.277667;SB=-3394.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.2619T>C;refseq.codingCoordStr_2=c.2502T>C;refseq.codingCoordStr_3=c.2616T>C;refseq.codonCoord_1=873;refseq.codonCoord_2=834;refseq.codonCoord_3=872;refseq.end_1=27515450;refseq.end_2=27515450;refseq.end_3=27515450;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3222;refseq.mrnaCoord_2=3105;refseq.mrnaCoord_3=3219;refseq.name2_1=MASTL;refseq.name2_2=MASTL;refseq.name2_3=MASTL;refseq.name_1=NM_001172303;refseq.name_2=NM_001172304;refseq.name_3=NM_032844;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T873T;refseq.proteinCoordStr_2=p.T834T;refseq.proteinCoordStr_3=p.T872T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=137;refseq.spliceDist_2=137;refseq.spliceDist_3=137;refseq.start_1=27515450;refseq.start_2=27515450;refseq.start_3=27515450;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/0 chr10 27548764 . T C 297.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.81;MQ0=0;OQ=4264.19;QD=17.40;RankSumP=0.348071;SB=-955.49;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.414A>G;refseq.codingCoordStr_3=c.519A>G;refseq.codonCoord_2=138;refseq.codonCoord_3=173;refseq.end_1=27548764;refseq.end_2=27548764;refseq.end_3=27548764;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=464;refseq.mrnaCoord_2=585;refseq.mrnaCoord_3=710;refseq.name2_1=ACBD5;refseq.name2_2=ACBD5;refseq.name2_3=ACBD5;refseq.name_1=NR_024150;refseq.name_2=NM_001042473;refseq.name_3=NM_145698;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P138P;refseq.proteinCoordStr_3=p.P173P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=27548764;refseq.start_2=27548764;refseq.start_3=27548764;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr10 27552291 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.367A>G;refseq.codingCoordStr_3=c.472A>G;refseq.codonCoord_2=123;refseq.codonCoord_3=158;refseq.end_1=27552291;refseq.end_2=27552291;refseq.end_3=27552291;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=417;refseq.mrnaCoord_2=538;refseq.mrnaCoord_3=663;refseq.name2_1=ACBD5;refseq.name2_2=ACBD5;refseq.name2_3=ACBD5;refseq.name_1=NR_024150;refseq.name_2=NM_001042473;refseq.name_3=NM_145698;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S123G;refseq.proteinCoordStr_3=p.S158G;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.start_1=27552291;refseq.start_2=27552291;refseq.start_3=27552291;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr10 27727231 . A G 149.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=3.91;MQ=99.00;MQ0=0;OQ=1841.74;QD=18.24;RankSumP=0.266271;SB=-578.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2302T>C;refseq.codonCoord=768;refseq.end=27727231;refseq.frame=0;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2420;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.*768Q;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=-109;refseq.start=27727231;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr10 27727781 . T C 454 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.74;MQ0=0;OQ=5204.73;QD=41.64;RankSumP=1.00000;SB=-2206.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1752A>G;refseq.codonCoord=584;refseq.end=27727781;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1870;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I584M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=395;refseq.start=27727781;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr10 27727971 . A G 341.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.89;MQ0=0;OQ=6699.04;QD=18.40;RankSumP=0.321259;SB=-2520.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1562T>C;refseq.codonCoord=521;refseq.end=27727971;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1680;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M521T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=205;refseq.start=27727971;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr10 27728000 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=1;HaplotypeScore=7.17;MQ=98.83;MQ0=0;OQ=9157.89;QD=19.69;RankSumP=0.222643;SB=-3552.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1533T>C;refseq.codonCoord=511;refseq.end=27728000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1651;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S511S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=176;refseq.start=27728000;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr10 27728089 . C G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.413461;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1444G>C;refseq.codonCoord=482;refseq.end=27728089;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1562;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V482L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=87;refseq.start=27728089;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr10 27728115 . T C 247.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=1;HaplotypeScore=7.32;MQ=98.50;MQ0=0;OQ=7495.57;QD=20.04;RankSumP=0.251989;SB=-2089.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1418A>G;refseq.codonCoord=473;refseq.end=27728115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D473G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=61;refseq.start=27728115;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr10 27732285 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=17.08;MQ=98.33;MQ0=0;OQ=5393.32;QD=16.24;RankSumP=0.451748;SB=-2140.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1219T>G;refseq.codonCoord=407;refseq.end=27732285;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C407G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=27732285;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr10 27740863 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1091T>G;refseq.codonCoord=364;refseq.end=27740863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1209;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V364G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=27740863;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr10 27742175 . C T 131.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.55;MQ0=0;OQ=2450.95;QD=13.04;RankSumP=0.407114;SB=-581.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1011G>A;refseq.codonCoord=337;refseq.end=27742175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V337V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-79;refseq.start=27742175;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr10 27742694 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=97.39;MQ0=0;OQ=571.90;QD=10.40;RankSumP=0.645734;SB=-241.64;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.492G>A;refseq.codonCoord=164;refseq.end=27742694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E164E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-598;refseq.start=27742694;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr10 27742731 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=97.55;MQ0=0;OQ=378.11;QD=7.88;RankSumP=0.712231;SB=-80.74;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.455T>C;refseq.codonCoord=152;refseq.end=27742731;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L152P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=573;refseq.start=27742731;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr10 27742792 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.0469308;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.394T>G;refseq.codonCoord=132;refseq.end=27742792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_001034842;refseq.name2=PTCHD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W132G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=512;refseq.start=27742792;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 28004476 . G A 220.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=1745.55;QD=15.45;RankSumP=0.449283;SB=-575.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.852C>T;refseq.codonCoord=284;refseq.end=28004476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_173576;refseq.name2=MKX;refseq.positionType=CDS;refseq.proteinCoordStr=p.N284N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=14;refseq.start=28004476;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr10 28268871 . A G 310.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=98.73;MQ0=0;OQ=5661.12;QD=18.50;RankSumP=0.383169;SB=-2363.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2058T>C;refseq.codonCoord=686;refseq.end=28268871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2151;refseq.name=NM_018076;refseq.name2=ARMC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N686N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-40;refseq.start=28268871;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr10 28418764 . T C 312.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=3692.79;QD=41.96;RankSumP=1.00000;SB=-286.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.965A>G;refseq.codonCoord=322;refseq.end=28418764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_173496;refseq.name2=MPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K322R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=13;refseq.start=28418764;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr10 28476478 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.255C>A;refseq.codonCoord=85;refseq.end=28476478;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_173496;refseq.name2=MPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N85K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=21;refseq.start=28476478;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr10 29787227 . G A 246.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=86.74;MQ0=3;OQ=4220.47;QD=19.36;RankSumP=0.283107;SB=-1722.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.5322C>T;refseq.codingCoordStr_2=c.6600C>T;refseq.codonCoord_1=1774;refseq.codonCoord_2=2200;refseq.end_1=29787227;refseq.end_2=29787227;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5772;refseq.mrnaCoord_2=7353;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1774P;refseq.proteinCoordStr_2=p.P2200P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=29787227;refseq.start_2=29787227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr10 29794541 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=82.39;MQ0=33;OQ=2953.34;QD=10.05;RankSumP=1.06185e-05;SB=-1213.01;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.4844C>T;refseq.codingCoordStr_2=c.6122C>T;refseq.codonCoord_1=1615;refseq.codonCoord_2=2041;refseq.end_1=29794541;refseq.end_2=29794541;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5294;refseq.mrnaCoord_2=6875;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1615V;refseq.proteinCoordStr_2=p.A2041V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=29794541;refseq.start_2=29794541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 1/0 chr10 29794615 . T C 165.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=4.54;MQ=74.98;MQ0=7;OQ=2719.67;QD=13.33;RankSumP=0.354632;SB=-1149.92;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.4770A>G;refseq.codingCoordStr_2=c.6048A>G;refseq.codonCoord_1=1590;refseq.codonCoord_2=2016;refseq.end_1=29794615;refseq.end_2=29794615;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5220;refseq.mrnaCoord_2=6801;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1590T;refseq.proteinCoordStr_2=p.T2016T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=29794615;refseq.start_2=29794615;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr10 29799231 . A G 163.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=3.82;MQ=97.22;MQ0=0;OQ=4207.73;QD=13.66;RankSumP=0.0695600;SB=-907.65;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.4545T>C;refseq.codingCoordStr_2=c.5823T>C;refseq.codonCoord_1=1515;refseq.codonCoord_2=1941;refseq.end_1=29799231;refseq.end_2=29799231;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4995;refseq.mrnaCoord_2=6576;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1515A;refseq.proteinCoordStr_2=p.A1941A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=29799231;refseq.start_2=29799231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr10 29809653 . G A 166.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.43;MQ0=0;OQ=3011.53;QD=14.84;RankSumP=0.105985;SB=-969.41;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3918C>T;refseq.codingCoordStr_2=c.5196C>T;refseq.codonCoord_1=1306;refseq.codonCoord_2=1732;refseq.end_1=29809653;refseq.end_2=29809653;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4368;refseq.mrnaCoord_2=5949;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1306V;refseq.proteinCoordStr_2=p.V1732V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=29809653;refseq.start_2=29809653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr10 29810557 . A G 203.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=2.41;MQ=96.48;MQ0=0;OQ=1892.10;QD=15.64;RankSumP=0.286424;SB=-971.54;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3784T>C;refseq.codingCoordStr_2=c.5062T>C;refseq.codonCoord_1=1262;refseq.codonCoord_2=1688;refseq.end_1=29810557;refseq.end_2=29810557;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4234;refseq.mrnaCoord_2=5815;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1262P;refseq.proteinCoordStr_2=p.S1688P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=29810557;refseq.start_2=29810557;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr10 29817564 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=52.06;MQ0=7;OQ=1433.65;QD=13.15;RankSumP=0.493962;SB=-673.26;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3042C>T;refseq.codingCoordStr_2=c.4320C>T;refseq.codonCoord_1=1014;refseq.codonCoord_2=1440;refseq.end_1=29817564;refseq.end_2=29817564;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3492;refseq.mrnaCoord_2=5073;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1014Y;refseq.proteinCoordStr_2=p.Y1440Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=29817564;refseq.start_2=29817564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr10 29819853 . A C 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.414536;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2843T>G;refseq.codingCoordStr_2=c.4121T>G;refseq.codonCoord_1=948;refseq.codonCoord_2=1374;refseq.end_1=29819853;refseq.end_2=29819853;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3293;refseq.mrnaCoord_2=4874;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L948R;refseq.proteinCoordStr_2=p.L1374R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=29819853;refseq.start_2=29819853;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT 0/1 chr10 29819910 . T A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.571429;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2786A>T;refseq.codingCoordStr_2=c.4064A>T;refseq.codonCoord_1=929;refseq.codonCoord_2=1355;refseq.end_1=29819910;refseq.end_2=29819910;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3236;refseq.mrnaCoord_2=4817;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K929M;refseq.proteinCoordStr_2=p.K1355M;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=29819910;refseq.start_2=29819910;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/0 chr10 29823862 . C T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.342688;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2550G>A;refseq.codingCoordStr_2=c.3828G>A;refseq.codonCoord_1=850;refseq.codonCoord_2=1276;refseq.end_1=29823862;refseq.end_2=29823862;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3000;refseq.mrnaCoord_2=4581;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R850R;refseq.proteinCoordStr_2=p.R1276R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=29823862;refseq.start_2=29823862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 0/1 chr10 29823891 . A G 269.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=83.07;MQ0=9;OQ=2618.31;QD=15.22;RankSumP=0.158481;SB=-1205.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2521T>C;refseq.codingCoordStr_2=c.3799T>C;refseq.codonCoord_1=841;refseq.codonCoord_2=1267;refseq.end_1=29823891;refseq.end_2=29823891;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2971;refseq.mrnaCoord_2=4552;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L841L;refseq.proteinCoordStr_2=p.L1267L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=29823891;refseq.start_2=29823891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr10 29823914 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=178;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=78.55;MQ0=15;OQ=577.52;QD=3.24;RankSumP=0.426113;SB=-56.98;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2498T>C;refseq.codingCoordStr_2=c.3776T>C;refseq.codonCoord_1=833;refseq.codonCoord_2=1259;refseq.end_1=29823914;refseq.end_2=29823914;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2948;refseq.mrnaCoord_2=4529;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M833T;refseq.proteinCoordStr_2=p.M1259T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=29823914;refseq.start_2=29823914;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap-filterIngatk GT 0/1 chr10 29824078 . G C 348.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=78.73;MQ0=12;OQ=1986.42;QD=37.48;RankSumP=1.00000;SB=-475.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2425C>G;refseq.codingCoordStr_2=c.3703C>G;refseq.codonCoord_1=809;refseq.codonCoord_2=1235;refseq.end_1=29824078;refseq.end_2=29824078;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2875;refseq.mrnaCoord_2=4456;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P809A;refseq.proteinCoordStr_2=p.P1235A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=29824078;refseq.start_2=29824078;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr10 29828167 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.205880;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2270C>T;refseq.codingCoordStr_2=c.3548C>T;refseq.codonCoord_1=757;refseq.codonCoord_2=1183;refseq.end_1=29828167;refseq.end_2=29828167;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2720;refseq.mrnaCoord_2=4301;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T757M;refseq.proteinCoordStr_2=p.T1183M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=29828167;refseq.start_2=29828167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap GT 1/0 chr10 29852608 . G T 257.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.04;MQ0=0;OQ=9396.08;QD=32.74;RankSumP=1.00000;SB=-2051.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1663C>A;refseq.codingCoordStr_2=c.2941C>A;refseq.codonCoord_1=555;refseq.codonCoord_2=981;refseq.end_1=29852608;refseq.end_2=29852608;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2113;refseq.mrnaCoord_2=3694;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R555R;refseq.proteinCoordStr_2=p.R981R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-223;refseq.spliceDist_2=-223;refseq.start_1=29852608;refseq.start_2=29852608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr10 29852933 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1338A>C;refseq.codingCoordStr_2=c.2616A>C;refseq.codonCoord_1=446;refseq.codonCoord_2=872;refseq.end_1=29852933;refseq.end_2=29852933;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1788;refseq.mrnaCoord_2=3369;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S446S;refseq.proteinCoordStr_2=p.S872S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=29852933;refseq.start_2=29852933;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr10 29861095 . C T 445.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.57;MQ0=0;OQ=4167.33;QD=40.46;RankSumP=1.00000;SB=-1627.06;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1851G>A;refseq.codonCoord_2=617;refseq.end_1=29879521;refseq.end_2=29861095;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2604;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V617V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=13;refseq.start_1=29860234;refseq.start_2=29861095;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr10 29861529 . T C 242.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.44;MQ0=0;OQ=4441.49;QD=38.96;RankSumP=1.00000;SB=-2056.50;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1773A>G;refseq.codonCoord_2=591;refseq.end_1=29879521;refseq.end_2=29861529;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2526;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K591K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-66;refseq.start_1=29860234;refseq.start_2=29861529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr10 29862038 . C T 386.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2551.92;QD=41.16;RankSumP=1.00000;SB=-884.03;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1264G>A;refseq.codonCoord_2=422;refseq.end_1=29879521;refseq.end_2=29862038;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2017;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V422I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=356;refseq.start_1=29860234;refseq.start_2=29862038;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr10 29862165 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=13.97;MQ=98.62;MQ0=0;OQ=10443.63;QD=40.48;RankSumP=1.00000;SB=-4716.58;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1137A>G;refseq.codonCoord_2=379;refseq.end_1=29879521;refseq.end_2=29862165;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1890;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L379L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_2=229;refseq.start_1=29860234;refseq.start_2=29862165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr10 29874004 . A G 112.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=5.32;MQ=98.24;MQ0=0;OQ=16571.94;QD=40.13;RankSumP=1.00000;SB=-6426.96;SecondBestBaseQ=0;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.end_1=29879521;refseq.end_2=29879521;refseq.end_3=29874004;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=29;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name2_3=MIR604;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.name_3=NR_030335;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=29;refseq.start_1=29860234;refseq.start_2=29865015;refseq.start_3=29874004;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chr10 29874009 . G A 290.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=9.94;MQ=98.15;MQ0=0;OQ=15496.98;QD=40.25;RankSumP=1.00000;SB=-5044.14;SecondBestBaseQ=0;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.end_1=29879521;refseq.end_2=29879521;refseq.end_3=29874009;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=24;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name2_3=MIR604;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.name_3=NR_030335;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=24;refseq.start_1=29860234;refseq.start_2=29865015;refseq.start_3=29874009;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chr10 29879793 . A G 317.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=5.64;MQ=98.76;MQ0=0;OQ=9098.41;QD=37.60;RankSumP=1.00000;SB=-3896.57;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.566T>C;refseq.codingCoordStr_2=c.566T>C;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.end_1=29879793;refseq.end_2=29879793;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1016;refseq.mrnaCoord_2=1319;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V189A;refseq.proteinCoordStr_2=p.V189A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-262;refseq.spliceDist_2=-262;refseq.start_1=29879793;refseq.start_2=29879793;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr10 29879870 . A C 365.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.93;MQ0=0;OQ=6728.21;QD=35.60;RankSumP=1.00000;SB=-3167.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.489T>G;refseq.codingCoordStr_2=c.489T>G;refseq.codonCoord_1=163;refseq.codonCoord_2=163;refseq.end_1=29879870;refseq.end_2=29879870;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=1242;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A163A;refseq.proteinCoordStr_2=p.A163A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=329;refseq.spliceDist_2=329;refseq.start_1=29879870;refseq.start_2=29879870;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr10 29880044 . A G 116.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=10.81;MQ=98.69;MQ0=0;OQ=18671.24;QD=36.47;RankSumP=1.00000;SB=-9005.06;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.315T>C;refseq.codingCoordStr_2=c.315T>C;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.end_1=29880044;refseq.end_2=29880044;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=765;refseq.mrnaCoord_2=1068;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I105I;refseq.proteinCoordStr_2=p.I105I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=155;refseq.spliceDist_2=155;refseq.start_1=29880044;refseq.start_2=29880044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr10 29880170 . A G 281.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.76;MQ0=0;OQ=5894.93;QD=37.79;RankSumP=1.00000;SB=-1735.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.189T>C;refseq.codingCoordStr_2=c.189T>C;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=29880170;refseq.end_2=29880170;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=942;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S63S;refseq.proteinCoordStr_2=p.S63S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=29880170;refseq.start_2=29880170;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr10 29883839 . C T 255.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1195.94;QD=41.24;RankSumP=1.00000;SB=-602.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.39G>A;refseq.codingCoordStr_2=c.39G>A;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=29883839;refseq.end_2=29883839;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=792;refseq.name2_1=SVIL;refseq.name2_2=SVIL;refseq.name_1=NM_003174;refseq.name_2=NM_021738;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G13G;refseq.proteinCoordStr_2=p.G13G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=29883839;refseq.start_2=29883839;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr10 30355638 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3445A>G;refseq.codonCoord=1149;refseq.end=30355638;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3582;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1149G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-601;refseq.start=30355638;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 30356078 . C G 109.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2977.32;QD=25.23;RankSumP=0.462622;SB=-1504.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3005G>C;refseq.codonCoord=1002;refseq.end=30356078;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3142;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1002T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1041;refseq.start=30356078;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr10 30356214 . T C 154.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=2623.01;QD=19.57;RankSumP=0.0192179;SB=-994.51;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2869A>G;refseq.codonCoord=957;refseq.end=30356214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3006;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.R957G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1177;refseq.start=30356214;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr10 30356878 . T C 194.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.39;MQ0=0;OQ=2001.02;QD=14.82;RankSumP=0.312445;SB=-832.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2205A>G;refseq.codonCoord=735;refseq.end=30356878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2342;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.A735A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-1841;refseq.start=30356878;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr10 30357079 . G A 307.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.36;MQ0=0;OQ=4186.18;QD=20.83;RankSumP=0.307549;SB=-1549.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2004C>T;refseq.codonCoord=668;refseq.end=30357079;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2141;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.H668H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1723;refseq.start=30357079;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr10 30357832 . A G 207.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=17.84;MQ=98.22;MQ0=0;OQ=4846.98;QD=16.49;RankSumP=0.0433145;SB=-1786.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1251T>C;refseq.codonCoord=417;refseq.end=30357832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1388;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y417Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=970;refseq.start=30357832;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr10 30357844 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=19.77;MQ=98.19;MQ0=0;OQ=4465.54;QD=16.36;RankSumP=4.19415e-07;SB=-1377.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1239T>C;refseq.codonCoord=413;refseq.end=30357844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.P413P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=958;refseq.start=30357844;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 0/1 chr10 30357955 . C T 162.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=4.78;MQ=98.18;MQ0=0;OQ=1527.63;QD=14.28;RankSumP=0.259473;SB=-711.20;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1128G>A;refseq.codonCoord=376;refseq.end=30357955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1265;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.P376P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=847;refseq.start=30357955;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr10 30376678 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=256;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.90;MQ0=0;OQ=5764.75;QD=22.52;RankSumP=0.399728;SB=-2340.58;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.70G>A;refseq.codonCoord=24;refseq.end=30376678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_020848;refseq.name2=KIAA1462;refseq.positionType=CDS;refseq.proteinCoordStr=p.E24K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=129;refseq.start=30376678;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 30669232 . G A 148.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=21.07;MQ=98.89;MQ0=0;OQ=7734.53;QD=20.41;RankSumP=0.110681;SB=-2349.11;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.484C>T;refseq.codonCoord=162;refseq.end=30669232;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_018109;refseq.name2=MTPAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R162C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-72;refseq.start=30669232;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr10 30768107 . T C 233.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.87;MQ0=0;OQ=14671.08;QD=38.41;RankSumP=1.00000;SB=-6806.46;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.234T>C;refseq.codonCoord=78;refseq.end=30768107;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_005204;refseq.name2=MAP3K8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y78Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-103;refseq.start=30768107;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr10 31174220 . A G 277.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=7.96;MQ=98.94;MQ0=0;OQ=2359.71;QD=15.32;RankSumP=0.281789;SB=-1188.81;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.codingCoordStr_2=c.2163T>C;refseq.codingCoordStr_3=c.2163T>C;refseq.codingCoordStr_4=c.2163T>C;refseq.codingCoordStr_5=c.2016T>C;refseq.codingCoordStr_6=c.2133T>C;refseq.codingCoordStr_7=c.2133T>C;refseq.codingCoordStr_8=c.2163T>C;refseq.codonCoord_2=721;refseq.codonCoord_3=721;refseq.codonCoord_4=721;refseq.codonCoord_5=672;refseq.codonCoord_6=711;refseq.codonCoord_7=711;refseq.codonCoord_8=721;refseq.end_1=31174220;refseq.end_2=31174220;refseq.end_3=31174220;refseq.end_4=31174220;refseq.end_5=31174220;refseq.end_6=31174220;refseq.end_7=31174220;refseq.end_8=31174220;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1681;refseq.mrnaCoord_2=2646;refseq.mrnaCoord_3=2459;refseq.mrnaCoord_4=2517;refseq.mrnaCoord_5=2771;refseq.mrnaCoord_6=2697;refseq.mrnaCoord_7=2668;refseq.mrnaCoord_8=2598;refseq.name2_1=ZNF438;refseq.name2_2=ZNF438;refseq.name2_3=ZNF438;refseq.name2_4=ZNF438;refseq.name2_5=ZNF438;refseq.name2_6=ZNF438;refseq.name2_7=ZNF438;refseq.name2_8=ZNF438;refseq.name_1=NR_026560;refseq.name_2=NM_001143766;refseq.name_3=NM_001143767;refseq.name_4=NM_001143768;refseq.name_5=NM_001143769;refseq.name_6=NM_001143770;refseq.name_7=NM_001143771;refseq.name_8=NM_182755;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.H721H;refseq.proteinCoordStr_3=p.H721H;refseq.proteinCoordStr_4=p.H721H;refseq.proteinCoordStr_5=p.H672H;refseq.proteinCoordStr_6=p.H711H;refseq.proteinCoordStr_7=p.H711H;refseq.proteinCoordStr_8=p.H721H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceAA_7=His;refseq.referenceAA_8=His;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.referenceCodon_5=CAT;refseq.referenceCodon_6=CAT;refseq.referenceCodon_7=CAT;refseq.referenceCodon_8=CAT;refseq.spliceDist_1=289;refseq.spliceDist_2=289;refseq.spliceDist_3=289;refseq.spliceDist_4=289;refseq.spliceDist_5=289;refseq.spliceDist_6=289;refseq.spliceDist_7=289;refseq.spliceDist_8=289;refseq.start_1=31174220;refseq.start_2=31174220;refseq.start_3=31174220;refseq.start_4=31174220;refseq.start_5=31174220;refseq.start_6=31174220;refseq.start_7=31174220;refseq.start_8=31174220;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantAA_8=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;refseq.variantCodon_8=CAC;set=Intersection GT 0/1 chr10 32160684 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=5;HaplotypeScore=1.88;MQ=98.87;MQ0=0;OQ=1194.43;QD=15.93;RankSumP=0.364734;SB=-221.83;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1437G>A;refseq.codonCoord=479;refseq.end=32160684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1707;refseq.name=NM_018287;refseq.name2=ARHGAP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G479G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-12;refseq.start=32160684;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 0/1 chr10 32168617 . A G 263.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.90;MQ0=0;OQ=3077.48;QD=16.20;RankSumP=0.416027;SB=-1304.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1325T>C;refseq.codonCoord=442;refseq.end=32168617;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1595;refseq.name=NM_018287;refseq.name2=ARHGAP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.F442S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=29;refseq.start=32168617;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr10 32181466 . T C 247.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=2428.04;QD=15.87;RankSumP=0.460735;SB=-740.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1155A>G;refseq.codonCoord=385;refseq.end=32181466;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_018287;refseq.name2=ARHGAP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E385E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-16;refseq.start=32181466;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr10 32600778 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=315;Dels=0.00;HRun=2;HaplotypeScore=31.31;MQ=98.01;MQ0=0;OQ=374.58;QD=1.19;RankSumP=0.00000;SB=299.99;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2148T>G;refseq.codonCoord=716;refseq.end=32600778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2418;refseq.name=NM_025209;refseq.name2=EPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G716G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=74;refseq.start=32600778;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 32785254 . A C 177.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4086.30;QD=19.84;RankSumP=0.496214;SB=-1166.05;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.442A>C;refseq.codingCoordStr_2=c.442A>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=32785254;refseq.end_2=32785254;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=778;refseq.mrnaCoord_2=1012;refseq.name2_1=CCDC7;refseq.name2_2=CCDC7;refseq.name_1=NM_001026383;refseq.name_2=NM_145023;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K148Q;refseq.proteinCoordStr_2=p.K148Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=32785254;refseq.start_2=32785254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr10 32791967 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.494T>G;refseq.codingCoordStr_2=c.494T>G;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=32791967;refseq.end_2=32791967;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=830;refseq.mrnaCoord_2=1064;refseq.name2_1=CCDC7;refseq.name2_2=CCDC7;refseq.name_1=NM_001026383;refseq.name_2=NM_145023;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V165G;refseq.proteinCoordStr_2=p.V165G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=32791967;refseq.start_2=32791967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr10 32896752 . A C 301.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.51;MQ0=0;OQ=4206.08;QD=21.24;RankSumP=0.163809;SB=-1487.40;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1346A>C;refseq.codingCoordStr_2=c.-378A>C;refseq.codingCoordStr_3=c.1346A>C;refseq.codonCoord_1=449;refseq.codonCoord_3=449;refseq.end_1=32896752;refseq.end_2=32896752;refseq.end_3=32896752;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1682;refseq.mrnaCoord_2=96;refseq.mrnaCoord_3=1916;refseq.name2_1=CCDC7;refseq.name2_2=C10orf68;refseq.name2_3=CCDC7;refseq.name_1=NM_001026383;refseq.name_2=NM_024688;refseq.name_3=NM_145023;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K449T;refseq.proteinCoordStr_3=p.K449T;refseq.referenceAA_1=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=32896752;refseq.start_2=32896752;refseq.start_3=32896752;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr10 33014975 . A G 455.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.61;MQ0=0;OQ=6647.58;QD=41.03;RankSumP=1.00000;SB=-2575.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.115A>G;refseq.codonCoord=39;refseq.end=33014975;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.I39V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-40;refseq.start=33014975;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr10 33058357 . G C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3713.74;QD=50.87;RankSumP=1.00000;SB=-808.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.792G>C;refseq.codonCoord=264;refseq.end=33058357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1265;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.T264T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-35;refseq.start=33058357;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr10 33163780 . T C 211.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.43;MQ0=0;OQ=832.16;QD=15.70;RankSumP=0.487368;SB=-311.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1113T>C;refseq.codonCoord=371;refseq.end=33163780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1586;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.N371N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=32;refseq.start=33163780;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr10 33163830 . G C 142.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.56;MQ0=0;OQ=2020.73;QD=48.11;RankSumP=1.00000;SB=-782.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1163G>C;refseq.codonCoord=388;refseq.end=33163830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.G388A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=33163830;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 33177557 . T C 236.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=1790.32;QD=14.92;RankSumP=0.151937;SB=-703.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1529T>C;refseq.codonCoord=510;refseq.end=33177557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2002;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.M510T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=28;refseq.start=33177557;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr10 33183402 . G A 299.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=98.64;MQ0=0;OQ=6235.67;QD=43.00;RankSumP=1.00000;SB=-2446.13;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1819G>A;refseq.codonCoord=607;refseq.end=33183402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2292;refseq.name=NM_024688;refseq.name2=C10orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.V607I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-22;refseq.start=33183402;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr10 33239284 . T G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.codingCoordStr_1=c.2037A>C;refseq.codingCoordStr_2=c.2037A>C;refseq.codingCoordStr_3=c.2037A>C;refseq.codingCoordStr_4=c.2037A>C;refseq.codingCoordStr_5=c.2037A>C;refseq.codingCoordStr_6=c.2037A>C;refseq.codonCoord_1=679;refseq.codonCoord_2=679;refseq.codonCoord_3=679;refseq.codonCoord_4=679;refseq.codonCoord_5=679;refseq.codonCoord_6=679;refseq.end_1=33239284;refseq.end_2=33239284;refseq.end_3=33239284;refseq.end_4=33239284;refseq.end_5=33239284;refseq.end_6=33239284;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2258;refseq.mrnaCoord_2=2037;refseq.mrnaCoord_3=2037;refseq.mrnaCoord_4=2037;refseq.mrnaCoord_5=2037;refseq.mrnaCoord_6=2173;refseq.name2_1=ITGB1;refseq.name2_2=ITGB1;refseq.name2_3=ITGB1;refseq.name2_4=ITGB1;refseq.name2_5=ITGB1;refseq.name2_6=ITGB1;refseq.name_1=NM_002211;refseq.name_2=NM_033666;refseq.name_3=NM_033667;refseq.name_4=NM_033668;refseq.name_5=NM_033669;refseq.name_6=NM_133376;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L679F;refseq.proteinCoordStr_2=p.L679F;refseq.proteinCoordStr_3=p.L679F;refseq.proteinCoordStr_4=p.L679F;refseq.proteinCoordStr_5=p.L679F;refseq.proteinCoordStr_6=p.L679F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.referenceCodon_4=TTA;refseq.referenceCodon_5=TTA;refseq.referenceCodon_6=TTA;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.spliceDist_3=106;refseq.spliceDist_4=106;refseq.spliceDist_5=106;refseq.spliceDist_6=106;refseq.start_1=33239284;refseq.start_2=33239284;refseq.start_3=33239284;refseq.start_4=33239284;refseq.start_5=33239284;refseq.start_6=33239284;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantAA_5=Phe;refseq.variantAA_6=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;refseq.variantCodon_4=TTC;refseq.variantCodon_5=TTC;refseq.variantCodon_6=TTC;set=FilteredInAll GT 1/0 chr10 33249272 . G T 296.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.99;MQ0=0;OQ=10352.89;QD=39.67;RankSumP=1.00000;SB=-5002.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.codingCoordStr_1=c.1176C>A;refseq.codingCoordStr_2=c.1176C>A;refseq.codingCoordStr_3=c.1176C>A;refseq.codingCoordStr_4=c.1176C>A;refseq.codingCoordStr_5=c.1176C>A;refseq.codingCoordStr_6=c.1176C>A;refseq.codonCoord_1=392;refseq.codonCoord_2=392;refseq.codonCoord_3=392;refseq.codonCoord_4=392;refseq.codonCoord_5=392;refseq.codonCoord_6=392;refseq.end_1=33249272;refseq.end_2=33249272;refseq.end_3=33249272;refseq.end_4=33249272;refseq.end_5=33249272;refseq.end_6=33249272;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1176;refseq.mrnaCoord_3=1176;refseq.mrnaCoord_4=1176;refseq.mrnaCoord_5=1176;refseq.mrnaCoord_6=1312;refseq.name2_1=ITGB1;refseq.name2_2=ITGB1;refseq.name2_3=ITGB1;refseq.name2_4=ITGB1;refseq.name2_5=ITGB1;refseq.name2_6=ITGB1;refseq.name_1=NM_002211;refseq.name_2=NM_033666;refseq.name_3=NM_033667;refseq.name_4=NM_033668;refseq.name_5=NM_033669;refseq.name_6=NM_133376;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G392G;refseq.proteinCoordStr_2=p.G392G;refseq.proteinCoordStr_3=p.G392G;refseq.proteinCoordStr_4=p.G392G;refseq.proteinCoordStr_5=p.G392G;refseq.proteinCoordStr_6=p.G392G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.referenceCodon_6=GGC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.spliceDist_5=48;refseq.spliceDist_6=48;refseq.start_1=33249272;refseq.start_2=33249272;refseq.start_3=33249272;refseq.start_4=33249272;refseq.start_5=33249272;refseq.start_6=33249272;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;refseq.variantCodon_6=GGA;set=Intersection GT 1/1 chr10 33509187 . A G 292.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=8.21;MQ=98.59;MQ0=0;OQ=2571.08;QD=15.68;RankSumP=0.189753;SB=-1277.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2595T>C;refseq.codonCoord=865;refseq.end=33509187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3118;refseq.name=NM_003873;refseq.name2=NRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S865S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=113;refseq.start=33509187;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr10 33515288 . C T 352.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.65;MQ0=0;OQ=4727.69;QD=17.91;RankSumP=0.289368;SB=-1486.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2197G>A;refseq.codonCoord=733;refseq.end=33515288;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2720;refseq.name=NM_003873;refseq.name2=NRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V733I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=135;refseq.start=33515288;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr10 33550669 . G A 178.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=13.42;MQ=98.87;MQ0=0;OQ=17741.84;QD=42.65;RankSumP=1.00000;SB=-6513.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1266C>T;refseq.codingCoordStr_2=c.1266C>T;refseq.codingCoordStr_3=c.1266C>T;refseq.codonCoord_1=422;refseq.codonCoord_2=422;refseq.codonCoord_3=422;refseq.end_1=33550669;refseq.end_2=33550669;refseq.end_3=33550669;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1789;refseq.mrnaCoord_2=1789;refseq.mrnaCoord_3=1789;refseq.name2_1=NRP1;refseq.name2_2=NRP1;refseq.name2_3=NRP1;refseq.name_1=NM_001024628;refseq.name_2=NM_001024629;refseq.name_3=NM_003873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y422Y;refseq.proteinCoordStr_2=p.Y422Y;refseq.proteinCoordStr_3=p.Y422Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=33550669;refseq.start_2=33550669;refseq.start_3=33550669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/1 chr10 33550774 . G A 194.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=9.77;MQ=98.76;MQ0=0;OQ=15283.11;QD=40.65;RankSumP=1.00000;SB=-5263.37;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1161C>T;refseq.codingCoordStr_2=c.1161C>T;refseq.codingCoordStr_3=c.1161C>T;refseq.codonCoord_1=387;refseq.codonCoord_2=387;refseq.codonCoord_3=387;refseq.end_1=33550774;refseq.end_2=33550774;refseq.end_3=33550774;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1684;refseq.mrnaCoord_2=1684;refseq.mrnaCoord_3=1684;refseq.name2_1=NRP1;refseq.name2_2=NRP1;refseq.name2_3=NRP1;refseq.name_1=NM_001024628;refseq.name_2=NM_001024629;refseq.name_3=NM_003873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P387P;refseq.proteinCoordStr_2=p.P387P;refseq.proteinCoordStr_3=p.P387P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=33550774;refseq.start_2=33550774;refseq.start_3=33550774;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr10 33592701 . C T 203.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=19.05;MQ=98.68;MQ0=0;OQ=9507.17;QD=20.71;RankSumP=0.461109;SB=-2650.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.537G>A;refseq.codingCoordStr_2=c.537G>A;refseq.codingCoordStr_3=c.537G>A;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=33592701;refseq.end_2=33592701;refseq.end_3=33592701;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=1060;refseq.mrnaCoord_3=1060;refseq.name2_1=NRP1;refseq.name2_2=NRP1;refseq.name2_3=NRP1;refseq.name_1=NM_001024628;refseq.name_2=NM_001024629;refseq.name_3=NM_003873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V179V;refseq.proteinCoordStr_2=p.V179V;refseq.proteinCoordStr_3=p.V179V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.start_1=33592701;refseq.start_2=33592701;refseq.start_3=33592701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr10 33592702 . A G 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=23.02;MQ=98.69;MQ0=0;OQ=18863.31;QD=39.80;RankSumP=1.00000;SB=-5816.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.536T>C;refseq.codingCoordStr_2=c.536T>C;refseq.codingCoordStr_3=c.536T>C;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=33592702;refseq.end_2=33592702;refseq.end_3=33592702;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1059;refseq.mrnaCoord_2=1059;refseq.mrnaCoord_3=1059;refseq.name2_1=NRP1;refseq.name2_2=NRP1;refseq.name2_3=NRP1;refseq.name_1=NM_001024628;refseq.name_2=NM_001024629;refseq.name_3=NM_003873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V179A;refseq.proteinCoordStr_2=p.V179A;refseq.proteinCoordStr_3=p.V179A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.spliceDist_3=106;refseq.start_1=33592702;refseq.start_2=33592702;refseq.start_3=33592702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr10 34728293 . G A 342.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.30;MQ0=0;OQ=10844.00;QD=41.23;RankSumP=1.00000;SB=-4377.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.861C>T;refseq.codonCoord=287;refseq.end=34728293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=861;refseq.name=NM_019619;refseq.name2=PARD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H287H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-30;refseq.start=34728293;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr10 37548456 . A C 325.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=97.66;MQ0=0;OQ=4954.72;QD=37.54;RankSumP=1.00000;SB=-2131.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3642A>C;refseq.codonCoord=1214;refseq.end=37548456;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3741;refseq.name=NM_052997;refseq.name2=ANKRD30A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1214A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-376;refseq.start=37548456;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr10 38383574 . C A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.392453;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.516C>A;refseq.codingCoordStr_2=c.513C>A;refseq.codonCoord_1=172;refseq.codonCoord_2=171;refseq.end_1=38383574;refseq.end_2=38383574;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=694;refseq.mrnaCoord_2=691;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A172A;refseq.proteinCoordStr_2=p.A171A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=266;refseq.spliceDist_2=263;refseq.start_1=38383574;refseq.start_2=38383574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=soap GT 1/0 chr10 38384012 . C G 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.447370;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.954C>G;refseq.codingCoordStr_2=c.951C>G;refseq.codonCoord_1=318;refseq.codonCoord_2=317;refseq.end_1=38384012;refseq.end_2=38384012;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1129;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H318Q;refseq.proteinCoordStr_2=p.H317Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=704;refseq.spliceDist_2=701;refseq.start_1=38384012;refseq.start_2=38384012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 1/0 chr10 38384118 . C G 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.274175;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1060C>G;refseq.codingCoordStr_2=c.1057C>G;refseq.codonCoord_1=354;refseq.codonCoord_2=353;refseq.end_1=38384118;refseq.end_2=38384118;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1238;refseq.mrnaCoord_2=1235;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q354E;refseq.proteinCoordStr_2=p.Q353E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=810;refseq.spliceDist_2=807;refseq.start_1=38384118;refseq.start_2=38384118;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 1/0 chr10 38384125 . C A 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.366575;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1067C>A;refseq.codingCoordStr_2=c.1064C>A;refseq.codonCoord_1=356;refseq.codonCoord_2=355;refseq.end_1=38384125;refseq.end_2=38384125;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=1242;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P356H;refseq.proteinCoordStr_2=p.P355H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=817;refseq.spliceDist_2=814;refseq.start_1=38384125;refseq.start_2=38384125;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=soap GT 1/0 chr10 38384706 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=3;HaplotypeScore=8.04;MQ=62.10;MQ0=15;OQ=8495.50;QD=20.52;RankSumP=0.135096;SB=-3361.91;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1648C>G;refseq.codingCoordStr_2=c.1645C>G;refseq.codonCoord_1=550;refseq.codonCoord_2=549;refseq.end_1=38384706;refseq.end_2=38384706;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1826;refseq.mrnaCoord_2=1823;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q550E;refseq.proteinCoordStr_2=p.Q549E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=1398;refseq.spliceDist_2=1395;refseq.start_1=38384706;refseq.start_2=38384706;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr10 38384786 . A G 95 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=6.92552e-05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1728A>G;refseq.codingCoordStr_2=c.1725A>G;refseq.codonCoord_1=576;refseq.codonCoord_2=575;refseq.end_1=38384786;refseq.end_2=38384786;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1906;refseq.mrnaCoord_2=1903;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T576T;refseq.proteinCoordStr_2=p.T575T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1478;refseq.spliceDist_2=1475;refseq.start_1=38384786;refseq.start_2=38384786;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT 0/1 chr10 38384801 . C T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.378627;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1743C>T;refseq.codingCoordStr_2=c.1740C>T;refseq.codonCoord_1=581;refseq.codonCoord_2=580;refseq.end_1=38384801;refseq.end_2=38384801;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1921;refseq.mrnaCoord_2=1918;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y581Y;refseq.proteinCoordStr_2=p.Y580Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=1493;refseq.spliceDist_2=1490;refseq.start_1=38384801;refseq.start_2=38384801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=soap GT 0/1 chr10 38384849 . T A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.284406;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1791T>A;refseq.codingCoordStr_2=c.1788T>A;refseq.codonCoord_1=597;refseq.codonCoord_2=596;refseq.end_1=38384849;refseq.end_2=38384849;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1969;refseq.mrnaCoord_2=1966;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T597T;refseq.proteinCoordStr_2=p.T596T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=1541;refseq.spliceDist_2=1538;refseq.start_1=38384849;refseq.start_2=38384849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=soap GT 1/0 chr10 38384907 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.401237;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1849G>A;refseq.codingCoordStr_2=c.1846G>A;refseq.codonCoord_1=617;refseq.codonCoord_2=616;refseq.end_1=38384907;refseq.end_2=38384907;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2027;refseq.mrnaCoord_2=2024;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A617T;refseq.proteinCoordStr_2=p.A616T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=1599;refseq.spliceDist_2=1596;refseq.start_1=38384907;refseq.start_2=38384907;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 1/0 chr10 38384914 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.100578;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1856A>G;refseq.codingCoordStr_2=c.1853A>G;refseq.codonCoord_1=619;refseq.codonCoord_2=618;refseq.end_1=38384914;refseq.end_2=38384914;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2034;refseq.mrnaCoord_2=2031;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y619C;refseq.proteinCoordStr_2=p.Y618C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=1606;refseq.spliceDist_2=1603;refseq.start_1=38384914;refseq.start_2=38384914;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=soap GT 0/1 chr10 38384970 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.416253;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1912A>G;refseq.codingCoordStr_2=c.1909A>G;refseq.codonCoord_1=638;refseq.codonCoord_2=637;refseq.end_1=38384970;refseq.end_2=38384970;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2090;refseq.mrnaCoord_2=2087;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K638E;refseq.proteinCoordStr_2=p.K637E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=1662;refseq.spliceDist_2=1659;refseq.start_1=38384970;refseq.start_2=38384970;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=soap GT 0/1 chr10 38385050 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.357219;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1992C>T;refseq.codingCoordStr_2=c.1989C>T;refseq.codonCoord_1=664;refseq.codonCoord_2=663;refseq.end_1=38385050;refseq.end_2=38385050;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2170;refseq.mrnaCoord_2=2167;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P664P;refseq.proteinCoordStr_2=p.P663P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=1742;refseq.spliceDist_2=1739;refseq.start_1=38385050;refseq.start_2=38385050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=soap GT 0/1 chr10 38385062 . T C 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.346913;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2004T>C;refseq.codingCoordStr_2=c.2001T>C;refseq.codonCoord_1=668;refseq.codonCoord_2=667;refseq.end_1=38385062;refseq.end_2=38385062;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2182;refseq.mrnaCoord_2=2179;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N668N;refseq.proteinCoordStr_2=p.N667N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=1754;refseq.spliceDist_2=1751;refseq.start_1=38385062;refseq.start_2=38385062;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=soap GT 1/0 chr10 38385160 . T C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.342989;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2102T>C;refseq.codingCoordStr_2=c.2099T>C;refseq.codonCoord_1=701;refseq.codonCoord_2=700;refseq.end_1=38385160;refseq.end_2=38385160;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2280;refseq.mrnaCoord_2=2277;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F701S;refseq.proteinCoordStr_2=p.F700S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=1852;refseq.spliceDist_2=1849;refseq.start_1=38385160;refseq.start_2=38385160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 1/0 chr10 38385167 . G T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.364784;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2109G>T;refseq.codingCoordStr_2=c.2106G>T;refseq.codonCoord_1=703;refseq.codonCoord_2=702;refseq.end_1=38385167;refseq.end_2=38385167;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2287;refseq.mrnaCoord_2=2284;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R703S;refseq.proteinCoordStr_2=p.R702S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=1859;refseq.spliceDist_2=1856;refseq.start_1=38385167;refseq.start_2=38385167;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT 0/1 chr10 38385412 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2354T>C;refseq.codingCoordStr_2=c.2351T>C;refseq.codonCoord_1=785;refseq.codonCoord_2=784;refseq.end_1=38385412;refseq.end_2=38385412;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2532;refseq.mrnaCoord_2=2529;refseq.name2_1=ZNF33A;refseq.name2_2=ZNF33A;refseq.name_1=NM_006954;refseq.name_2=NM_006974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F785S;refseq.proteinCoordStr_2=p.F784S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=2104;refseq.spliceDist_2=2101;refseq.start_1=38385412;refseq.start_2=38385412;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr10 38446585 . G C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0609648;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.500G>C;refseq.codingCoordStr_2=c.500G>C;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.end_1=38446585;refseq.end_2=38446585;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=845;refseq.name2_1=ZNF37A;refseq.name2_2=ZNF37A;refseq.name_1=NM_001007094;refseq.name_2=NM_003421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G167A;refseq.proteinCoordStr_2=p.G167A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=262;refseq.spliceDist_2=262;refseq.start_1=38446585;refseq.start_2=38446585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 0/1 chr10 38447525 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=69.35;MQ0=2;OQ=2162.16;QD=10.98;RankSumP=0.280013;SB=-1098.69;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1440A>G;refseq.codingCoordStr_2=c.1440A>G;refseq.codonCoord_1=480;refseq.codonCoord_2=480;refseq.end_1=38447525;refseq.end_2=38447525;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2259;refseq.mrnaCoord_2=1785;refseq.name2_1=ZNF37A;refseq.name2_2=ZNF37A;refseq.name_1=NM_001007094;refseq.name_2=NM_003421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S480S;refseq.proteinCoordStr_2=p.S480S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=1202;refseq.spliceDist_2=1202;refseq.start_1=38447525;refseq.start_2=38447525;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr10 42408412 . A G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.265834;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1992T>C;refseq.codonCoord=664;refseq.end=42408412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2107;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P664P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=1742;refseq.start=42408412;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr10 42408492 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.364419;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1912G>A;refseq.codonCoord=638;refseq.end=42408492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2027;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E638K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1662;refseq.start=42408492;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chr10 42408548 . C T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.319904;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1856G>A;refseq.codonCoord=619;refseq.end=42408548;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C619Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1606;refseq.start=42408548;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 0/1 chr10 42408555 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.320407;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1849A>G;refseq.codonCoord=617;refseq.end=42408555;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T617A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1599;refseq.start=42408555;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr10 42408661 . A G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.356527;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1743T>C;refseq.codonCoord=581;refseq.end=42408661;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1858;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y581Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=1493;refseq.start=42408661;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 0/1 chr10 42408676 . C T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=2.48307e-06;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1728G>A;refseq.codonCoord=576;refseq.end=42408676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1843;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T576T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1478;refseq.start=42408676;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 0/1 chr10 42409450 . C G 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.377675;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.954G>C;refseq.codonCoord=318;refseq.end=42409450;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q318H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=704;refseq.start=42409450;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr10 42409888 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.291568;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.516A>C;refseq.codonCoord=172;refseq.end=42409888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=631;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=266;refseq.start=42409888;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 42409971 . G A 424.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=81.91;MQ0=19;OQ=7336.31;QD=38.21;RankSumP=1.00000;SB=-2301.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.433C>T;refseq.codonCoord=145;refseq.end=42409971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_006955;refseq.name2=ZNF33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R145C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=183;refseq.start=42409971;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr10 42601095 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=91.48;MQ0=4;OQ=1046.55;QD=11.89;RankSumP=0.00964000;SB=-533.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.336T>C;refseq.codonCoord=112;refseq.end=42601095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T112T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-32;refseq.start=42601095;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr10 42632813 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=54.21;MQ0=73;OQ=705.69;QD=6.36;RankSumP=0.664073;SB=-116.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2445C>T;refseq.codonCoord=815;refseq.end=42632813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2803;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P815P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=42;refseq.start=42632813;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr10 42632940 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.308147;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2572C>G;refseq.codonCoord=858;refseq.end=42632940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2930;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q858E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=42632940;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr10 42638612 . G A 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.327044;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3173G>A;refseq.codonCoord=1058;refseq.end=42638612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3531;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1058D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=41;refseq.start=42638612;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr10 42638628 . A T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.402775;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3189A>T;refseq.codonCoord=1063;refseq.end=42638628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3547;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1063T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=57;refseq.start=42638628;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr10 42639203 . G A 302.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=64.37;MQ0=10;OQ=6021.03;QD=18.19;RankSumP=0.146031;SB=-2470.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3421G>A;refseq.codonCoord=1141;refseq.end=42639203;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3779;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1141I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-36;refseq.start=42639203;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr10 42646479 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0562398;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3778A>C;refseq.codonCoord=1260;refseq.end=42646479;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4136;refseq.name=NM_014753;refseq.name2=BMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1260R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=160;refseq.start=42646479;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 0/1 chr10 42915974 . A G 301.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=97.79;MQ0=0;OQ=8999.23;QD=37.50;RankSumP=1.00000;SB=-2769.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.135A>G;refseq.codingCoordStr_2=c.135A>G;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.end_1=42915974;refseq.end_2=42915974;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=325;refseq.name2_1=RET;refseq.name2_2=RET;refseq.name_1=NM_020630;refseq.name_2=NM_020975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A45A;refseq.proteinCoordStr_2=p.A45A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=42915974;refseq.start_2=42915974;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr10 42933849 . G T 214.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.55;MQ0=0;OQ=7753.40;QD=38.77;RankSumP=1.00000;SB=-2625.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2307G>T;refseq.codingCoordStr_2=c.2307G>T;refseq.codonCoord_1=769;refseq.codonCoord_2=769;refseq.end_1=42933849;refseq.end_2=42933849;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2497;refseq.mrnaCoord_2=2497;refseq.name2_1=RET;refseq.name2_2=RET;refseq.name_1=NM_020630;refseq.name_2=NM_020975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L769L;refseq.proteinCoordStr_2=p.L769L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=42933849;refseq.start_2=42933849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr10 42979344 . C T 28.92 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=2;HaplotypeScore=7.16;MQ=95.18;MQ0=0;QD=0.26;SB=-3.03;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1005C>T;refseq.codonCoord=335;refseq.end=42979344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1340;refseq.name=NM_018590;refseq.name2=CSGALNACT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T335T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=25;refseq.start=42979344;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:88,22:95:-34.78,-28.61,-359.69:61.75 chr10 42979345 . T G 35.40 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=95.28;MQ0=0;QD=0.31;SB=2.14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1006T>G;refseq.codonCoord=336;refseq.end=42979345;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_018590;refseq.name2=CSGALNACT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L336V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=42979345;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:91,23:99:-36.63,-29.81,-368.00:68.24 chr10 42998802 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=620;Dels=0.00;HRun=2;HaplotypeScore=24.42;MQ=89.72;MQ0=1;OQ=12385.52;QD=19.98;RankSumP=0.386207;SB=-3677.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1435C>T;refseq.codonCoord=479;refseq.end=42998802;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1770;refseq.name=NM_018590;refseq.name2=CSGALNACT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P479S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=99;refseq.start=42998802;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr10 43189239 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr10;refseq.codingCoordStr=c.37+2;refseq.end=43189239;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_173160;refseq.name2=FXYD4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=43189239;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr10 43431812 . G A 297.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=9287.96;QD=42.41;RankSumP=1.00000;SB=-4358.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.315G>A;refseq.codonCoord=105;refseq.end=43431812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_145312;refseq.name2=ZNF485;refseq.positionType=CDS;refseq.proteinCoordStr=p.L105L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=68;refseq.start=43431812;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr10 43432251 . G A 439.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.94;MQ0=0;OQ=6260.71;QD=42.02;RankSumP=1.00000;SB=-2853.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.754G>A;refseq.codonCoord=252;refseq.end=43432251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_145312;refseq.name2=ZNF485;refseq.positionType=CDS;refseq.proteinCoordStr=p.A252T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=507;refseq.start=43432251;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr10 44750468 . C T 271.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.99;MQ0=0;OQ=2024.57;QD=19.47;RankSumP=0.448420;SB=-918.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.708C>T;refseq.codonCoord=236;refseq.end=44750468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=905;refseq.name=NM_001123376;refseq.name2=TMEM72;refseq.positionType=CDS;refseq.proteinCoordStr=p.A236A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-181;refseq.start=44750468;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr10 44816126 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=1982.07;QD=16.52;RankSumP=0.180115;SB=-978.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.188T>A;refseq.codonCoord=63;refseq.end=44816126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_001039380;refseq.name2=C10orf25;refseq.positionType=CDS;refseq.proteinCoordStr=p.I63N;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-143;refseq.start=44816126;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr10 45189754 rs55977909 C T 28.22 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=90.12;MQ0=0;QD=4.03;SB=-10.00;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.21C>T;refseq.codonCoord=7;refseq.end=45189754;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_000698;refseq.name2=ALOX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T7T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=120;refseq.start=45189754;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:5,2:4:-7.31,-1.21,-7.34:61.05 chr10 45273773 . A G 351.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=98.93;MQ0=0;OQ=5168.41;QD=21.10;RankSumP=0.440074;SB=-2036.81;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.796T>C;refseq.codingCoordStr_2=c.796T>C;refseq.codingCoordStr_3=c.796T>C;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.codonCoord_3=266;refseq.end_1=45273773;refseq.end_2=45273773;refseq.end_3=45273773;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1639;refseq.mrnaCoord_2=1035;refseq.mrnaCoord_3=1546;refseq.name2_1=MARCH8;refseq.name2_2=MARCH8;refseq.name2_3=MARCH8;refseq.name_1=NM_001002265;refseq.name_2=NM_001002266;refseq.name_3=NM_145021;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y266H;refseq.proteinCoordStr_2=p.Y266H;refseq.proteinCoordStr_3=p.Y266H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=225;refseq.spliceDist_2=225;refseq.spliceDist_3=225;refseq.start_1=45273773;refseq.start_2=45273773;refseq.start_3=45273773;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr10 46418900 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.39;MQ0=0;OQ=4041.01;QD=24.94;RankSumP=0.0241967;SB=-1663.39;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.14G>A;refseq.codonCoord=5;refseq.end=46418900;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=20;refseq.start=46418900;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr10 46419001 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=97.99;MQ0=0;OQ=657.18;QD=13.14;RankSumP=0.507052;SB=-309.92;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.115C>G;refseq.codonCoord=39;refseq.end=46419001;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L39V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=121;refseq.start=46419001;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr10 46419005 . G A 120.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.92;MQ0=0;OQ=896.41;QD=19.07;RankSumP=0.142514;SB=-424.17;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.119G>A;refseq.codonCoord=40;refseq.end=46419005;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R40H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=125;refseq.start=46419005;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr10 46419025 . G A 108.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=97.92;MQ0=0;OQ=980.18;QD=20.85;RankSumP=0.471656;SB=-400.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.139G>A;refseq.codonCoord=47;refseq.end=46419025;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V47M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=145;refseq.start=46419025;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr10 46419036 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=97.52;MQ0=0;OQ=388.51;QD=7.19;RankSumP=0.716977;SB=-105.52;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.150C>T;refseq.codonCoord=50;refseq.end=46419036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=156;refseq.start=46419036;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr10 46419157 . T C 112.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=95.27;MQ0=0;OQ=1772.86;QD=15.02;RankSumP=0.00531724;SB=-347.19;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.271T>C;refseq.codonCoord=91;refseq.end=46419157;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W91R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=277;refseq.start=46419157;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/0 chr10 46419184 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=95.31;MQ0=0;OQ=931.17;QD=9.41;RankSumP=0.554157;SB=-383.53;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.298A>C;refseq.codonCoord=100;refseq.end=46419184;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T100P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=304;refseq.start=46419184;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr10 46419195 rs3127678 C T 1552.86 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=94.59;MQ0=0;QD=17.25;SB=-310.85;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=46419195;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G103G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=315;refseq.start=46419195;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:36,51:69:-179.36,-20.79,-88.58:99 chr10 46419196 . A G 2637.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=4.75;MQ=94.48;MQ0=0;QD=29.97;RankSumP=1.00000;SB=-565.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.310A>G;refseq.codonCoord=104;refseq.end=46419196;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S104G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=316;refseq.start=46419196;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 1/1 chr10 46419204 . G T 1152.91 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=4.42;MQ=94.84;MQ0=0;QD=16.24;RankSumP=0.502949;SB=-443.22;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.318G>T;refseq.codonCoord=106;refseq.end=46419204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L106L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=324;refseq.start=46419204;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 0/1 chr10 46419471 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.02;MQ0=0;OQ=2148.45;QD=21.48;RankSumP=0.0719892;SB=-1031.21;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.585A>G;refseq.codonCoord=195;refseq.end=46419471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S195S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=591;refseq.start=46419471;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr10 46419490 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=96.96;MQ0=0;OQ=405.03;QD=4.45;RankSumP=0.464515;SB=-127.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.604G>T;refseq.codonCoord=202;refseq.end=46419490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G202W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=610;refseq.start=46419490;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr10 46419583 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=7.81;MQ=92.00;MQ0=0;OQ=1402.62;QD=9.35;RankSumP=0.503269;SB=-148.77;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.697G>T;refseq.codonCoord=233;refseq.end=46419583;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=832;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A233S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=703;refseq.start=46419583;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr10 46419602 . G A 2047.51 BadSOAPSNP;Indel AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=35.54;MQ=91.64;MQ0=0;QD=10.45;RankSumP=0.000445039;SB=-134.10;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.716G>A;refseq.codonCoord=239;refseq.end=46419602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R239K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=722;refseq.start=46419602;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr10 46419607 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.442073;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.721G>A;refseq.codonCoord=241;refseq.end=46419607;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V241M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=727;refseq.start=46419607;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/0 chr10 46419610 . A G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=215;Dels=0.00;HRun=3;HaplotypeScore=35.01;MQ=90.61;MQ0=0;OQ=6553.23;QD=30.48;RankSumP=0.381684;SB=-338.13;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.724A>G;refseq.codonCoord=242;refseq.end=46419610;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R242G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=730;refseq.start=46419610;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr10 46419636 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.750A>C;refseq.codonCoord=250;refseq.end=46419636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L250L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=756;refseq.start=46419636;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr10 46419738 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=97.78;MQ0=0;OQ=3078.56;QD=13.39;RankSumP=0.155282;SB=-1174.18;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.852G>A;refseq.codonCoord=284;refseq.end=46419738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G284G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-837;refseq.start=46419738;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr10 46419753 . T C 118.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=97.68;MQ0=0;OQ=4961.59;QD=24.09;RankSumP=0.143160;SB=-1655.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.867T>C;refseq.codonCoord=289;refseq.end=46419753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H289H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-822;refseq.start=46419753;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr10 46419869 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=11.87;MQ=98.56;MQ0=0;OQ=2151.11;QD=10.01;RankSumP=0.303832;SB=-993.03;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.983C>G;refseq.codonCoord=328;refseq.end=46419869;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1118;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S328C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-706;refseq.start=46419869;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr10 46420010 . T C 212.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=98.24;MQ0=0;OQ=9976.95;QD=36.55;RankSumP=1.00000;SB=-4284.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1124T>C;refseq.codonCoord=375;refseq.end=46420010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1259;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V375A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-565;refseq.start=46420010;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 46420077 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=5.21;MQ=98.22;MQ0=0;OQ=1607.35;QD=10.64;RankSumP=0.491704;SB=-278.12;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1191G>A;refseq.codonCoord=397;refseq.end=46420077;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1326;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A397A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-498;refseq.start=46420077;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr10 46420085 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=2;HaplotypeScore=4.11;MQ=98.46;MQ0=0;OQ=2424.98;QD=19.56;RankSumP=0.0306793;SB=-519.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1199T>C;refseq.codonCoord=400;refseq.end=46420085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L400P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-490;refseq.start=46420085;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 46420152 . C T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=94.59;MQ0=0;OQ=212.40;QD=11.18;RankSumP=0.587766;SB=-106.62;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1266C>T;refseq.codonCoord=422;refseq.end=46420152;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P422P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-423;refseq.start=46420152;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr10 46420194 . A G 64.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=402.95;QD=31.00;RankSumP=1.00000;SB=-46.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1308A>G;refseq.codonCoord=436;refseq.end=46420194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P436P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-381;refseq.start=46420194;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr10 46420245 rs7912299 C T 11.18 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.18;SB=-10.00;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1359C>T;refseq.codonCoord=453;refseq.end=46420245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_014696;refseq.name2=GPRIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S453S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-330;refseq.start=46420245;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.37,-0.30,-0.00:1.76 chr10 46507480 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=519;Dels=0.00;HRun=1;HaplotypeScore=18.65;MQ=98.69;MQ0=0;OQ=21838.19;QD=42.08;RankSumP=1.00000;SB=-9316.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.691C>T;refseq.codonCoord=231;refseq.end=46507480;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L231L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=750;refseq.start=46507480;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr10 46507507 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=16.44;MQ=98.71;MQ0=0;OQ=5751.88;QD=12.13;RankSumP=0.0887533;SB=-1636.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.718C>T;refseq.codonCoord=240;refseq.end=46507507;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1137;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R240C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=777;refseq.start=46507507;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr10 46507614 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=14.57;MQ=98.91;MQ0=0;OQ=6355.39;QD=28.89;RankSumP=1.00000;SB=-2789.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.825T>C;refseq.codonCoord=275;refseq.end=46507614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1244;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A275A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-713;refseq.start=46507614;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr10 46507686 . C T 213.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=98.89;MQ0=0;OQ=10356.60;QD=41.93;RankSumP=1.00000;SB=-4939.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.897C>T;refseq.codonCoord=299;refseq.end=46507686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1316;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H299H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-641;refseq.start=46507686;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr10 46507737 . C T 209.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.85;MQ0=0;OQ=10712.59;QD=41.68;RankSumP=1.00000;SB=-5302.94;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.948C>T;refseq.codonCoord=316;refseq.end=46507737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C316C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-590;refseq.start=46507737;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr10 46507836 . G A 237.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.72;MQ0=0;OQ=15674.44;QD=41.80;RankSumP=1.00000;SB=-6851.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1047G>A;refseq.codonCoord=349;refseq.end=46507836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1466;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S349S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-491;refseq.start=46507836;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr10 46507903 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1114T>G;refseq.codonCoord=372;refseq.end=46507903;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1533;refseq.name=NM_005972;refseq.name2=PPYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S372A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-424;refseq.start=46507903;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 46584962 . C G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.530G>C;refseq.codingCoordStr_2=c.530G>C;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=46584962;refseq.end_2=46584962;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=734;refseq.mrnaCoord_2=652;refseq.name2_1=ANXA8;refseq.name2_2=ANXA8L1;refseq.name_1=NM_001040084;refseq.name_2=NM_001098845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G177A;refseq.proteinCoordStr_2=p.G177A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=46584962;refseq.start_2=46584962;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/1 chr10 46584964 . T C 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.528A>G;refseq.codingCoordStr_2=c.528A>G;refseq.codonCoord_1=176;refseq.codonCoord_2=176;refseq.end_1=46584964;refseq.end_2=46584964;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=650;refseq.name2_1=ANXA8;refseq.name2_2=ANXA8L1;refseq.name_1=NM_001040084;refseq.name_2=NM_001098845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P176P;refseq.proteinCoordStr_2=p.P176P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=46584964;refseq.start_2=46584964;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/1 chr10 46589811 . G T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.94C>A;refseq.codingCoordStr_2=c.94C>A;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.end_1=46589811;refseq.end_2=46589811;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=298;refseq.mrnaCoord_2=216;refseq.name2_1=ANXA8;refseq.name2_2=ANXA8L1;refseq.name_1=NM_001040084;refseq.name_2=NM_001098845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q32K;refseq.proteinCoordStr_2=p.Q32K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=46589811;refseq.start_2=46589811;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/1 chr10 48033903 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.971G>C;refseq.codonCoord=324;refseq.end=48033903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1131;refseq.name=NM_016204;refseq.name2=GDF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G324A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=625;refseq.start=48033903;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 48048721 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1171A>G;refseq.codonCoord=391;refseq.end=48048721;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1627;refseq.name=NM_004962;refseq.name2=GDF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N391D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-75;refseq.start=48048721;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr10 49051005 . T C 8 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=3.73;MQ=17.99;MQ0=56;OQ=126.90;QD=1.98;RankSumP=1.00000;SB=-6.99;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.3213A>G;refseq.codonCoord_2=1071;refseq.end_1=49051005;refseq.end_2=49051005;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=466;refseq.mrnaCoord_2=3544;refseq.name2_1=FRMPD2;refseq.name2_2=FRMPD2;refseq.name_1=NR_033178;refseq.name_2=NM_001018071;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S1071S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=49051005;refseq.start_2=49051005;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCG;set=filterInsoap-gatk GT 1/1 chr10 49059022 rs1346694 T C 0.12 PASS AC=2;AF=1.00;AN=2;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=4.67;MQ=3.87;MQ0=211;OQ=148.83;QD=0.69;SB=-10.00;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2620A>G;refseq.codonCoord=874;refseq.end=49059022;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2951;refseq.name=NM_001018071;refseq.name2=FRMPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S874G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=36;refseq.start=49059022;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=gatk GT:AD:DP:GL:GQ 1/1:50,166:5:-18.44,-1.51,-0.00:15.05 chr10 49090014 . T C 115.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=4.01;MQ=98.88;MQ0=0;OQ=2148.74;QD=13.51;RankSumP=0.491290;SB=-496.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1600A>G;refseq.codonCoord=534;refseq.end=49090014;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1931;refseq.name=NM_001018071;refseq.name2=FRMPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K534E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-12;refseq.start=49090014;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr10 49117726 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=99.00;MQ0=0;OQ=2386.37;QD=13.04;RankSumP=0.177712;SB=-810.75;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.716C>T;refseq.codonCoord=239;refseq.end=49117726;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_001018071;refseq.name2=FRMPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T239M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=16;refseq.start=49117726;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr10 49337750 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.43427e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.642G>A;refseq.codonCoord=214;refseq.end=49337750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_021226;refseq.name2=ARHGAP22;refseq.positionType=CDS;refseq.proteinCoordStr=p.E214E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-18;refseq.start=49337750;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr10 49337801 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=7.78;MQ=97.01;MQ0=0;OQ=4022.01;QD=29.14;RankSumP=1.00000;SB=-1142.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.591A>G;refseq.codonCoord=197;refseq.end=49337801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_021226;refseq.name2=ARHGAP22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P197P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-69;refseq.start=49337801;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr10 49357806 . G A 180.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=799.16;QD=15.37;RankSumP=0.339192;SB=-358.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.330C>T;refseq.codonCoord=110;refseq.end=49357806;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_021226;refseq.name2=ARHGAP22;refseq.positionType=CDS;refseq.proteinCoordStr=p.A110A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=49357806;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr10 49791460 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1158.01;QD=18.09;RankSumP=0.729595;SB=-316.34;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.747C>T;refseq.codonCoord_2=249;refseq.end_1=49819846;refseq.end_2=49791460;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=827;refseq.name2_1=WDFY4;refseq.name2_2=LRRC18;refseq.name_1=NM_020945;refseq.name_2=NM_001006939;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D249D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-18;refseq.start_1=49779925;refseq.start_2=49791460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr10 49791790 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=12.41;MQ=98.87;MQ0=0;OQ=2455.71;QD=12.79;RankSumP=0.398100;SB=-1008.84;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.417A>G;refseq.codonCoord_2=139;refseq.end_1=49819846;refseq.end_2=49791790;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=497;refseq.name2_1=WDFY4;refseq.name2_2=LRRC18;refseq.name_1=NM_020945;refseq.name_2=NM_001006939;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T139T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=-348;refseq.start_1=49779925;refseq.start_2=49791790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr10 49792187 . C A 269.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=99.00;MQ0=0;OQ=2780.03;QD=15.19;RankSumP=0.0893304;SB=-1245.29;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.20G>T;refseq.codonCoord_2=7;refseq.end_1=49819846;refseq.end_2=49792187;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=100;refseq.name2_1=WDFY4;refseq.name2_2=LRRC18;refseq.name_1=NM_020945;refseq.name_2=NM_001006939;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G7V;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=100;refseq.start_1=49779925;refseq.start_2=49792187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr10 49897791 . T C 428.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=98.93;MQ0=0;OQ=3055.66;QD=36.82;RankSumP=1.00000;SB=-1457.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.873A>G;refseq.codonCoord=291;refseq.end=49897791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_001031746;refseq.name2=C10orf72;refseq.positionType=CDS;refseq.proteinCoordStr=p.E291E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=36;refseq.start=49897791;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr10 50348535 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3477A>C;refseq.codonCoord=1159;refseq.end=50348535;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3631;refseq.name=NM_000124;refseq.name2=ERCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1159S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-302;refseq.start=50348535;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr10 50351039 . G A 330.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=98.93;MQ0=0;OQ=4395.54;QD=20.07;RankSumP=0.0459368;SB=-1480.15;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2751C>T;refseq.codonCoord=917;refseq.end=50351039;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2905;refseq.name=NM_000124;refseq.name2=ERCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G917G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=42;refseq.start=50351039;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr10 50393690 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=98.73;MQ0=0;OQ=19142.52;QD=43.21;RankSumP=1.00000;SB=-7751.04;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1477C>T;refseq.codonCoord_2=493;refseq.end_1=50402074;refseq.end_2=50393690;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1765;refseq.name2_1=ERCC6;refseq.name2_2=PGBD3;refseq.name_1=NM_000124;refseq.name_2=NM_170753;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L493L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-534;refseq.start_1=50384075;refseq.start_2=50393690;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr10 50394022 . C T 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=632;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=97.34;MQ0=1;OQ=27618.44;QD=43.70;RankSumP=1.00000;SB=-10670.27;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1145G>A;refseq.codonCoord_2=382;refseq.end_1=50402074;refseq.end_2=50394022;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1433;refseq.name2_1=ERCC6;refseq.name2_2=PGBD3;refseq.name_1=NM_000124;refseq.name_2=NM_170753;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R382K;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGA;refseq.spliceDist_2=-866;refseq.start_1=50384075;refseq.start_2=50394022;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr10 50410882 . G C 83.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=10.42;MQ=98.56;MQ0=0;OQ=16409.44;QD=45.84;RankSumP=1.00000;SB=-6655.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.135C>G;refseq.codonCoord=45;refseq.end=50410882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_000124;refseq.name2=ERCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L45L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=149;refseq.start=50410882;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr10 50490351 . C A 110.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=16.17;MQ=98.54;MQ0=0;OQ=8103.25;QD=33.90;RankSumP=1.00000;SB=-3314.07;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1559C>A;refseq.codonCoord_2=520;refseq.end_1=50494543;refseq.end_2=50490351;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1999;refseq.name2_1=CHAT;refseq.name2_2=SLC18A3;refseq.name_1=NM_020984;refseq.name_2=NM_003055;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A520E;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-422;refseq.start_1=50487262;refseq.start_2=50490351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr10 50494625 . G A 260.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.74;MQ0=0;OQ=1991.05;QD=15.32;RankSumP=0.375534;SB=-847.28;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.4G>A;refseq.codingCoordStr_2=c.112G>A;refseq.codingCoordStr_3=c.4G>A;refseq.codingCoordStr_4=c.358G>A;refseq.codingCoordStr_5=c.4G>A;refseq.codingCoordStr_6=c.4G>A;refseq.codingCoordStr_7=c.4G>A;refseq.codonCoord_1=2;refseq.codonCoord_2=38;refseq.codonCoord_3=2;refseq.codonCoord_4=120;refseq.codonCoord_5=2;refseq.codonCoord_6=2;refseq.codonCoord_7=2;refseq.end_1=50494625;refseq.end_2=50494625;refseq.end_3=50494625;refseq.end_4=50494625;refseq.end_5=50494625;refseq.end_6=50494625;refseq.end_7=50494625;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=511;refseq.mrnaCoord_2=581;refseq.mrnaCoord_3=581;refseq.mrnaCoord_4=511;refseq.mrnaCoord_5=177;refseq.mrnaCoord_6=339;refseq.mrnaCoord_7=167;refseq.name2_1=CHAT;refseq.name2_2=CHAT;refseq.name2_3=CHAT;refseq.name2_4=CHAT;refseq.name2_5=CHAT;refseq.name2_6=CHAT;refseq.name2_7=CHAT;refseq.name_1=NM_001142929;refseq.name_2=NM_001142933;refseq.name_3=NM_001142934;refseq.name_4=NM_020549;refseq.name_5=NM_020984;refseq.name_6=NM_020985;refseq.name_7=NM_020986;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A2T;refseq.proteinCoordStr_2=p.A38T;refseq.proteinCoordStr_3=p.A2T;refseq.proteinCoordStr_4=p.A120T;refseq.proteinCoordStr_5=p.A2T;refseq.proteinCoordStr_6=p.A2T;refseq.proteinCoordStr_7=p.A2T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.referenceCodon_7=GCA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.spliceDist_4=-30;refseq.spliceDist_5=-30;refseq.spliceDist_6=-30;refseq.spliceDist_7=-30;refseq.start_1=50494625;refseq.start_2=50494625;refseq.start_3=50494625;refseq.start_4=50494625;refseq.start_5=50494625;refseq.start_6=50494625;refseq.start_7=50494625;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;set=Intersection GT 1/0 chr10 50526658 . G A 306.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=3132.39;QD=36.00;RankSumP=1.00000;SB=-398.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.1027G>A;refseq.codingCoordStr_2=c.1135G>A;refseq.codingCoordStr_3=c.1027G>A;refseq.codingCoordStr_4=c.1381G>A;refseq.codingCoordStr_5=c.1027G>A;refseq.codingCoordStr_6=c.1027G>A;refseq.codingCoordStr_7=c.1027G>A;refseq.codonCoord_1=343;refseq.codonCoord_2=379;refseq.codonCoord_3=343;refseq.codonCoord_4=461;refseq.codonCoord_5=343;refseq.codonCoord_6=343;refseq.codonCoord_7=343;refseq.end_1=50526658;refseq.end_2=50526658;refseq.end_3=50526658;refseq.end_4=50526658;refseq.end_5=50526658;refseq.end_6=50526658;refseq.end_7=50526658;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1534;refseq.mrnaCoord_2=1604;refseq.mrnaCoord_3=1604;refseq.mrnaCoord_4=1534;refseq.mrnaCoord_5=1200;refseq.mrnaCoord_6=1362;refseq.mrnaCoord_7=1190;refseq.name2_1=CHAT;refseq.name2_2=CHAT;refseq.name2_3=CHAT;refseq.name2_4=CHAT;refseq.name2_5=CHAT;refseq.name2_6=CHAT;refseq.name2_7=CHAT;refseq.name_1=NM_001142929;refseq.name_2=NM_001142933;refseq.name_3=NM_001142934;refseq.name_4=NM_020549;refseq.name_5=NM_020984;refseq.name_6=NM_020985;refseq.name_7=NM_020986;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.V343M;refseq.proteinCoordStr_2=p.V379M;refseq.proteinCoordStr_3=p.V343M;refseq.proteinCoordStr_4=p.V461M;refseq.proteinCoordStr_5=p.V343M;refseq.proteinCoordStr_6=p.V343M;refseq.proteinCoordStr_7=p.V343M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.referenceCodon_7=GTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceDist_5=-2;refseq.spliceDist_6=-2;refseq.spliceDist_7=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.spliceInfo_5=splice-donor_-2;refseq.spliceInfo_6=splice-donor_-2;refseq.spliceInfo_7=splice-donor_-2;refseq.start_1=50526658;refseq.start_2=50526658;refseq.start_3=50526658;refseq.start_4=50526658;refseq.start_5=50526658;refseq.start_6=50526658;refseq.start_7=50526658;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantAA_6=Met;refseq.variantAA_7=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;refseq.variantCodon_6=ATG;refseq.variantCodon_7=ATG;set=Intersection GT 1/1 chr10 50533153 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=29.51;MQ=98.23;MQ0=0;OQ=5911.61;QD=15.32;RankSumP=0.389993;SB=-981.26;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.1287T>C;refseq.codingCoordStr_2=c.1395T>C;refseq.codingCoordStr_3=c.1287T>C;refseq.codingCoordStr_4=c.1641T>C;refseq.codingCoordStr_5=c.1287T>C;refseq.codingCoordStr_6=c.1287T>C;refseq.codingCoordStr_7=c.1287T>C;refseq.codonCoord_1=429;refseq.codonCoord_2=465;refseq.codonCoord_3=429;refseq.codonCoord_4=547;refseq.codonCoord_5=429;refseq.codonCoord_6=429;refseq.codonCoord_7=429;refseq.end_1=50533153;refseq.end_2=50533153;refseq.end_3=50533153;refseq.end_4=50533153;refseq.end_5=50533153;refseq.end_6=50533153;refseq.end_7=50533153;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1794;refseq.mrnaCoord_2=1864;refseq.mrnaCoord_3=1864;refseq.mrnaCoord_4=1794;refseq.mrnaCoord_5=1460;refseq.mrnaCoord_6=1622;refseq.mrnaCoord_7=1450;refseq.name2_1=CHAT;refseq.name2_2=CHAT;refseq.name2_3=CHAT;refseq.name2_4=CHAT;refseq.name2_5=CHAT;refseq.name2_6=CHAT;refseq.name2_7=CHAT;refseq.name_1=NM_001142929;refseq.name_2=NM_001142933;refseq.name_3=NM_001142934;refseq.name_4=NM_020549;refseq.name_5=NM_020984;refseq.name_6=NM_020985;refseq.name_7=NM_020986;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.H429H;refseq.proteinCoordStr_2=p.H465H;refseq.proteinCoordStr_3=p.H429H;refseq.proteinCoordStr_4=p.H547H;refseq.proteinCoordStr_5=p.H429H;refseq.proteinCoordStr_6=p.H429H;refseq.proteinCoordStr_7=p.H429H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceAA_7=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.referenceCodon_5=CAT;refseq.referenceCodon_6=CAT;refseq.referenceCodon_7=CAT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceDist_5=7;refseq.spliceDist_6=7;refseq.spliceDist_7=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.spliceInfo_5=splice-acceptor_7;refseq.spliceInfo_6=splice-acceptor_7;refseq.spliceInfo_7=splice-acceptor_7;refseq.start_1=50533153;refseq.start_2=50533153;refseq.start_3=50533153;refseq.start_4=50533153;refseq.start_5=50533153;refseq.start_6=50533153;refseq.start_7=50533153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;set=Intersection GT 1/0 chr10 50571944 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=2;HaplotypeScore=5.85;MQ=98.60;MQ0=0;OQ=7871.69;QD=21.69;RankSumP=0.134053;SB=-3251.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.216C>T;refseq.codingCoordStr_2=c.216C>T;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=50571944;refseq.end_2=50571944;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=276;refseq.mrnaCoord_2=276;refseq.name2_1=C10orf53;refseq.name2_2=C10orf53;refseq.name_1=NM_001042427;refseq.name_2=NM_182554;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F72F;refseq.proteinCoordStr_2=p.F72F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=50571944;refseq.start_2=50571944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr10 50586490 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=578;Dels=0.00;HRun=2;HaplotypeScore=12.75;MQ=98.91;MQ0=0;OQ=11571.18;QD=20.02;RankSumP=0.450720;SB=-3551.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.295A>G;refseq.codonCoord=99;refseq.end=50586490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_182554;refseq.name2=C10orf53;refseq.positionType=CDS;refseq.proteinCoordStr=p.R99G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=78;refseq.start=50586490;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr10 50622756 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1507T>G;refseq.codingCoordStr_2=c.1051T>G;refseq.codingCoordStr_3=c.1678T>G;refseq.codonCoord_1=503;refseq.codonCoord_2=351;refseq.codonCoord_3=560;refseq.end_1=50622756;refseq.end_2=50622756;refseq.end_3=50622756;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1649;refseq.mrnaCoord_2=1444;refseq.mrnaCoord_3=1820;refseq.name2_1=OGDHL;refseq.name2_2=OGDHL;refseq.name2_3=OGDHL;refseq.name_1=NM_001143996;refseq.name_2=NM_001143997;refseq.name_3=NM_018245;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S503A;refseq.proteinCoordStr_2=p.S351A;refseq.proteinCoordStr_3=p.S560A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=50622756;refseq.start_2=50622756;refseq.start_3=50622756;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr10 50623500 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1354A>C;refseq.codingCoordStr_2=c.898A>C;refseq.codingCoordStr_3=c.1525A>C;refseq.codonCoord_1=452;refseq.codonCoord_2=300;refseq.codonCoord_3=509;refseq.end_1=50623500;refseq.end_2=50623500;refseq.end_3=50623500;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1496;refseq.mrnaCoord_2=1291;refseq.mrnaCoord_3=1667;refseq.name2_1=OGDHL;refseq.name2_2=OGDHL;refseq.name2_3=OGDHL;refseq.name_1=NM_001143996;refseq.name_2=NM_001143997;refseq.name_3=NM_018245;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T452P;refseq.proteinCoordStr_2=p.T300P;refseq.proteinCoordStr_3=p.T509P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=50623500;refseq.start_2=50623500;refseq.start_3=50623500;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr10 50630215 . G A 249.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=7.53;MQ=98.81;MQ0=0;OQ=4103.97;QD=18.83;RankSumP=0.139358;SB=-1562.51;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.393C>T;refseq.codingCoordStr_2=c.-64C>T;refseq.codingCoordStr_3=c.564C>T;refseq.codonCoord_1=131;refseq.codonCoord_3=188;refseq.end_1=50630215;refseq.end_2=50630215;refseq.end_3=50630215;refseq.frame_1=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=535;refseq.mrnaCoord_2=330;refseq.mrnaCoord_3=706;refseq.name2_1=OGDHL;refseq.name2_2=OGDHL;refseq.name2_3=OGDHL;refseq.name_1=NM_001143996;refseq.name_2=NM_001143997;refseq.name_3=NM_018245;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L131L;refseq.proteinCoordStr_3=p.L188L;refseq.referenceAA_1=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=50630215;refseq.start_2=50630215;refseq.start_3=50630215;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/0 chr10 50895287 rs4043130 C G 0.48 PASS AC=2;AF=1.00;AN=2;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=9.71;MQ=3.03;MQ0=158;OQ=55.85;QD=0.33;SB=-10.00;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1701G>C;refseq.codonCoord_2=567;refseq.end_1=51031718;refseq.end_2=50895287;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1827;refseq.name2_1=PARG;refseq.name2_2=AGAP8;refseq.name_1=NM_003631;refseq.name_2=NM_001077686;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q567H;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-594;refseq.start_1=50800728;refseq.start_2=50895287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=gatk GT:AD:DP:GL:GQ 1/1:43,127:2:-8.99,-0.60,-0.00:6.02 chr10 50895513 . C T 19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=744;Dels=0.00;HRun=0;HaplotypeScore=11.16;MQ=14.76;MQ0=379;OQ=4007.85;QD=5.39;RankSumP=1.00000;SB=-423.42;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1475G>A;refseq.codonCoord_2=492;refseq.end_1=51031718;refseq.end_2=50895513;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1601;refseq.name2_1=PARG;refseq.name2_2=AGAP8;refseq.name_1=NM_003631;refseq.name_2=NM_001077686;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R492H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=-820;refseq.start_1=50800728;refseq.start_2=50895513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=filterInsoap-gatk GT 1/1 chr10 50896124 rs4043617 G A 47.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=922;Dels=0.00;HRun=0;HaplotypeScore=32.78;MQ=1.33;MQ0=920;QD=0.05;SB=-10.00;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.864C>T;refseq.codonCoord_2=288;refseq.end_1=51031718;refseq.end_2=50896124;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=990;refseq.name2_1=PARG;refseq.name2_2=AGAP8;refseq.name_1=NM_003631;refseq.name_2=NM_001077686;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G288G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=348;refseq.start_1=50800728;refseq.start_2=50896124;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:788,134:2:-8.11,-0.60,-0.00:6.02 chr10 51135558 . A T 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=403;Dels=0.00;HRun=1;HaplotypeScore=3.45;MQ=6.19;MQ0=380;OQ=182.40;QD=0.45;RankSumP=1.00000;SB=-118.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.904T>A;refseq.codonCoord=302;refseq.end=51135558;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_001077685;refseq.name2=AGAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y302N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=388;refseq.start=51135558;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/1 chr10 51135656 rs4043618 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1516;Dels=0.00;HRun=2;HaplotypeScore=33.37;MQ=8.23;MQ0=1253;OQ=2357.12;QD=1.55;SB=-1069.95;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.806G>A;refseq.codonCoord=269;refseq.end=51135656;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_001077685;refseq.name2=AGAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R269Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=290;refseq.start=51135656;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1164,348:108:-271.52,-32.52,-172.11:99 chr10 51142621 . C T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.200000;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.365G>A;refseq.codonCoord=122;refseq.end=51142621;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=491;refseq.name=NM_001077685;refseq.name2=AGAP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.C122Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=38;refseq.start=51142621;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 0/1 chr10 51252858 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.675A>C;refseq.codingCoordStr_2=c.675A>C;refseq.codingCoordStr_3=c.627A>C;refseq.codingCoordStr_4=c.627A>C;refseq.codingCoordStr_5=c.627A>C;refseq.codonCoord_1=225;refseq.codonCoord_2=225;refseq.codonCoord_3=209;refseq.codonCoord_4=209;refseq.codonCoord_5=209;refseq.end_1=51252858;refseq.end_2=51252858;refseq.end_3=51252858;refseq.end_4=51252858;refseq.end_5=51252858;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=927;refseq.mrnaCoord_3=856;refseq.mrnaCoord_4=830;refseq.mrnaCoord_5=770;refseq.name2_1=NCOA4;refseq.name2_2=NCOA4;refseq.name2_3=NCOA4;refseq.name2_4=NCOA4;refseq.name2_5=NCOA4;refseq.name_1=NM_001145260;refseq.name_2=NM_001145261;refseq.name_3=NM_001145262;refseq.name_4=NM_001145263;refseq.name_5=NM_005437;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.K225N;refseq.proteinCoordStr_2=p.K225N;refseq.proteinCoordStr_3=p.K209N;refseq.proteinCoordStr_4=p.K209N;refseq.proteinCoordStr_5=p.K209N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.spliceDist_4=57;refseq.spliceDist_5=57;refseq.start_1=51252858;refseq.start_2=51252858;refseq.start_3=51252858;refseq.start_4=51252858;refseq.start_5=51252858;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;set=FilteredInAll GT 0/1 chr10 51252900 . C T 206.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=14.01;MQ=98.06;MQ0=0;OQ=5200.05;QD=17.28;RankSumP=0.0966833;SB=-2120.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.717C>T;refseq.codingCoordStr_2=c.717C>T;refseq.codingCoordStr_3=c.669C>T;refseq.codingCoordStr_4=c.669C>T;refseq.codingCoordStr_5=c.669C>T;refseq.codonCoord_1=239;refseq.codonCoord_2=239;refseq.codonCoord_3=223;refseq.codonCoord_4=223;refseq.codonCoord_5=223;refseq.end_1=51252900;refseq.end_2=51252900;refseq.end_3=51252900;refseq.end_4=51252900;refseq.end_5=51252900;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=969;refseq.mrnaCoord_2=969;refseq.mrnaCoord_3=898;refseq.mrnaCoord_4=872;refseq.mrnaCoord_5=812;refseq.name2_1=NCOA4;refseq.name2_2=NCOA4;refseq.name2_3=NCOA4;refseq.name2_4=NCOA4;refseq.name2_5=NCOA4;refseq.name_1=NM_001145260;refseq.name_2=NM_001145261;refseq.name_3=NM_001145262;refseq.name_4=NM_001145263;refseq.name_5=NM_005437;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.D239D;refseq.proteinCoordStr_2=p.D239D;refseq.proteinCoordStr_3=p.D223D;refseq.proteinCoordStr_4=p.D223D;refseq.proteinCoordStr_5=p.D223D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.spliceDist_5=-46;refseq.start_1=51252900;refseq.start_2=51252900;refseq.start_3=51252900;refseq.start_4=51252900;refseq.start_5=51252900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;set=Intersection GT 0/1 chr10 51262578 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.562A>C;refseq.codonCoord=188;refseq.end=51262578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.T188P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=48;refseq.start=51262578;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 51277103 . A C 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.282892;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.405T>G;refseq.codonCoord=135;refseq.end=51277103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.A135A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=51277103;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap GT 0/1 chr10 51283237 . T C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.700000;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.246A>G;refseq.codonCoord=82;refseq.end=51283237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G82G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-14;refseq.start=51283237;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 51283275 . G A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.583975;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.208C>T;refseq.codonCoord=70;refseq.end=51283275;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.R70W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=43;refseq.start=51283275;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 1/0 chr10 51293153 rs4935252 C T 0.15 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=5.18;MQ=14.87;MQ0=130;OQ=74.99;QD=0.56;SB=-39.54;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.68G>A;refseq.codonCoord=23;refseq.end=51293153;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G23E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-39;refseq.start=51293153;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=gatk GT:AD:DP:GL:GQ 1/1:100,34:3:-10.99,-0.91,-0.00:9.03 chr10 51293180 rs61847112 C A 39.81 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=11.46;MQ0=133;QD=0.29;SB=-10.00;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.41G>T;refseq.codonCoord=14;refseq.end=51293180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=163;refseq.name=NM_006327;refseq.name2=TIMM23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G14V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-66;refseq.start=51293180;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:101,34:2:-7.39,-0.60,-0.00:6.02 chr10 51497940 . G A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=41.20;MQ0=7;OQ=282.00;QD=8.81;RankSumP=0.363636;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.73G>A;refseq.codonCoord=25;refseq.end=51497940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_001005751;refseq.name2=FAM21A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V25M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-54;refseq.start=51497940;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr10 51499445 . C A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.128571;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.259C>A;refseq.codonCoord=87;refseq.end=51499445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_001005751;refseq.name2=FAM21A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L87I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-33;refseq.start=51499445;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr10 51523656 . C T 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.303030;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1153C>T;refseq.codingCoordStr_2=c.889C>T;refseq.codonCoord_1=385;refseq.codonCoord_2=297;refseq.end_1=51523656;refseq.end_2=51523656;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1235;refseq.mrnaCoord_2=889;refseq.name2_1=FAM21A;refseq.name2_2=FAM21B;refseq.name_1=NM_001005751;refseq.name_2=NM_018232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R385W;refseq.proteinCoordStr_2=p.R297W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=51523656;refseq.start_2=51523656;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr10 51533836 . A G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1664A>G;refseq.codingCoordStr_2=c.1400A>G;refseq.codonCoord_1=555;refseq.codonCoord_2=467;refseq.end_1=51533836;refseq.end_2=51533836;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1746;refseq.mrnaCoord_2=1400;refseq.name2_1=FAM21A;refseq.name2_2=FAM21B;refseq.name_1=NM_001005751;refseq.name_2=NM_018232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K555R;refseq.proteinCoordStr_2=p.K467R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=51533836;refseq.start_2=51533836;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 0/1 chr10 51773713 . A G 411.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.85;MQ0=0;OQ=3096.64;QD=38.23;RankSumP=1.00000;SB=-1495.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.168T>C;refseq.codonCoord=56;refseq.end=51773713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_147156;refseq.name2=SGMS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N56N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=399;refseq.start=51773713;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr10 52182235 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.426165;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.221C>A;refseq.codonCoord=74;refseq.end=52182235;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_001079516;refseq.name2=ASAH2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T74N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=52182235;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr10 53712084 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1664+2;refseq.codingCoordStr_2=c.1709+2;refseq.end_1=53712084;refseq.end_2=53712084;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=PRKG1;refseq.name2_2=PRKG1;refseq.name_1=NM_001098512;refseq.name_2=NM_006258;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=53712084;refseq.start_2=53712084;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr10 54198272 . G C 301.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.51;MQ0=0;OQ=2975.03;QD=16.35;RankSumP=0.290130;SB=-1001.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.378C>G;refseq.codonCoord=126;refseq.end=54198272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_000242;refseq.name2=MBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L126L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=54198272;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr10 55252911 . G T 235.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=98.91;MQ0=0;OQ=4145.16;QD=14.75;RankSumP=0.263584;SB=-1324.58;SecondBestBaseQ=32;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr10;refseq.chr_10=chr10;refseq.chr_11=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_10=c.4512C>A;refseq.codingCoordStr_11=c.4581C>A;refseq.codingCoordStr_4=c.4602C>A;refseq.codingCoordStr_5=c.4587C>A;refseq.codingCoordStr_6=c.4374C>A;refseq.codingCoordStr_7=c.4572C>A;refseq.codingCoordStr_8=c.4461C>A;refseq.codingCoordStr_9=c.4521C>A;refseq.codonCoord_10=1504;refseq.codonCoord_11=1527;refseq.codonCoord_4=1534;refseq.codonCoord_5=1529;refseq.codonCoord_6=1458;refseq.codonCoord_7=1524;refseq.codonCoord_8=1487;refseq.codonCoord_9=1507;refseq.end_1=55257144;refseq.end_10=55252911;refseq.end_11=55252911;refseq.end_2=55257144;refseq.end_3=55257144;refseq.end_4=55252911;refseq.end_5=55252911;refseq.end_6=55252911;refseq.end_7=55252911;refseq.end_8=55252911;refseq.end_9=55252911;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=4907;refseq.mrnaCoord_11=4976;refseq.mrnaCoord_4=4997;refseq.mrnaCoord_5=4982;refseq.mrnaCoord_6=4769;refseq.mrnaCoord_7=4967;refseq.mrnaCoord_8=4856;refseq.mrnaCoord_9=4916;refseq.name2_1=PCDH15;refseq.name2_10=PCDH15;refseq.name2_11=PCDH15;refseq.name2_2=PCDH15;refseq.name2_3=PCDH15;refseq.name2_4=PCDH15;refseq.name2_5=PCDH15;refseq.name2_6=PCDH15;refseq.name2_7=PCDH15;refseq.name2_8=PCDH15;refseq.name2_9=PCDH15;refseq.name_1=NM_001142771;refseq.name_10=NM_001142773;refseq.name_11=NM_033056;refseq.name_2=NM_001142772;refseq.name_3=NM_001142770;refseq.name_4=NM_001142763;refseq.name_5=NM_001142764;refseq.name_6=NM_001142765;refseq.name_7=NM_001142766;refseq.name_8=NM_001142767;refseq.name_9=NM_001142768;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.P1504P;refseq.proteinCoordStr_11=p.P1527P;refseq.proteinCoordStr_4=p.P1534P;refseq.proteinCoordStr_5=p.P1529P;refseq.proteinCoordStr_6=p.P1458P;refseq.proteinCoordStr_7=p.P1524P;refseq.proteinCoordStr_8=p.P1487P;refseq.proteinCoordStr_9=p.P1507P;refseq.referenceAA_10=Pro;refseq.referenceAA_11=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceAA_9=Pro;refseq.referenceCodon_10=CCC;refseq.referenceCodon_11=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.referenceCodon_6=CCC;refseq.referenceCodon_7=CCC;refseq.referenceCodon_8=CCC;refseq.referenceCodon_9=CCC;refseq.spliceDist_10=214;refseq.spliceDist_11=214;refseq.spliceDist_4=214;refseq.spliceDist_5=214;refseq.spliceDist_6=214;refseq.spliceDist_7=214;refseq.spliceDist_8=214;refseq.spliceDist_9=214;refseq.start_1=55240443;refseq.start_10=55252911;refseq.start_11=55252911;refseq.start_2=55240443;refseq.start_3=55241398;refseq.start_4=55252911;refseq.start_5=55252911;refseq.start_6=55252911;refseq.start_7=55252911;refseq.start_8=55252911;refseq.start_9=55252911;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_10=Pro;refseq.variantAA_11=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantAA_9=Pro;refseq.variantCodon_10=CCA;refseq.variantCodon_11=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;refseq.variantCodon_8=CCA;refseq.variantCodon_9=CCA;set=Intersection GT 0/1 chr10 55391606 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr10;refseq.chr_10=chr10;refseq.chr_11=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_1=c.2936A>C;refseq.codingCoordStr_10=c.2855A>C;refseq.codingCoordStr_11=c.2921A>C;refseq.codingCoordStr_2=c.2921A>C;refseq.codingCoordStr_3=c.2708A>C;refseq.codingCoordStr_4=c.2921A>C;refseq.codingCoordStr_5=c.2810A>C;refseq.codingCoordStr_6=c.2855A>C;refseq.codingCoordStr_7=c.2921A>C;refseq.codingCoordStr_8=c.2936A>C;refseq.codingCoordStr_9=c.2921A>C;refseq.codonCoord_1=979;refseq.codonCoord_10=952;refseq.codonCoord_11=974;refseq.codonCoord_2=974;refseq.codonCoord_3=903;refseq.codonCoord_4=974;refseq.codonCoord_5=937;refseq.codonCoord_6=952;refseq.codonCoord_7=974;refseq.codonCoord_8=979;refseq.codonCoord_9=974;refseq.end_1=55391606;refseq.end_10=55391606;refseq.end_11=55391606;refseq.end_2=55391606;refseq.end_3=55391606;refseq.end_4=55391606;refseq.end_5=55391606;refseq.end_6=55391606;refseq.end_7=55391606;refseq.end_8=55391606;refseq.end_9=55391606;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=3331;refseq.mrnaCoord_10=3250;refseq.mrnaCoord_11=3316;refseq.mrnaCoord_2=3316;refseq.mrnaCoord_3=3103;refseq.mrnaCoord_4=3316;refseq.mrnaCoord_5=3205;refseq.mrnaCoord_6=3250;refseq.mrnaCoord_7=3316;refseq.mrnaCoord_8=3331;refseq.mrnaCoord_9=3316;refseq.name2_1=PCDH15;refseq.name2_10=PCDH15;refseq.name2_11=PCDH15;refseq.name2_2=PCDH15;refseq.name2_3=PCDH15;refseq.name2_4=PCDH15;refseq.name2_5=PCDH15;refseq.name2_6=PCDH15;refseq.name2_7=PCDH15;refseq.name2_8=PCDH15;refseq.name2_9=PCDH15;refseq.name_1=NM_001142763;refseq.name_10=NM_001142773;refseq.name_11=NM_033056;refseq.name_2=NM_001142764;refseq.name_3=NM_001142765;refseq.name_4=NM_001142766;refseq.name_5=NM_001142767;refseq.name_6=NM_001142768;refseq.name_7=NM_001142770;refseq.name_8=NM_001142771;refseq.name_9=NM_001142772;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.Y979S;refseq.proteinCoordStr_10=p.Y952S;refseq.proteinCoordStr_11=p.Y974S;refseq.proteinCoordStr_2=p.Y974S;refseq.proteinCoordStr_3=p.Y903S;refseq.proteinCoordStr_4=p.Y974S;refseq.proteinCoordStr_5=p.Y937S;refseq.proteinCoordStr_6=p.Y952S;refseq.proteinCoordStr_7=p.Y974S;refseq.proteinCoordStr_8=p.Y979S;refseq.proteinCoordStr_9=p.Y974S;refseq.referenceAA_1=Tyr;refseq.referenceAA_10=Tyr;refseq.referenceAA_11=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceAA_9=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_10=TAC;refseq.referenceCodon_11=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.referenceCodon_8=TAC;refseq.referenceCodon_9=TAC;refseq.spliceDist_1=53;refseq.spliceDist_10=53;refseq.spliceDist_11=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.spliceDist_4=53;refseq.spliceDist_5=53;refseq.spliceDist_6=53;refseq.spliceDist_7=53;refseq.spliceDist_8=53;refseq.spliceDist_9=53;refseq.start_1=55391606;refseq.start_10=55391606;refseq.start_11=55391606;refseq.start_2=55391606;refseq.start_3=55391606;refseq.start_4=55391606;refseq.start_5=55391606;refseq.start_6=55391606;refseq.start_7=55391606;refseq.start_8=55391606;refseq.start_9=55391606;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Ser;refseq.variantAA_10=Ser;refseq.variantAA_11=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantAA_9=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_10=TCC;refseq.variantCodon_11=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;refseq.variantCodon_7=TCC;refseq.variantCodon_8=TCC;refseq.variantCodon_9=TCC;set=FilteredInAll GT 1/0 chr10 55562648 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.47;MQ0=0;OQ=591.43;QD=18.48;RankSumP=0.251660;SB=-51.95;SecondBestBaseQ=31;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr10;refseq.chr_10=chr10;refseq.chr_11=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_10=c.1844A>G;refseq.codingCoordStr_11=c.1910A>G;refseq.codingCoordStr_2=c.1925A>G;refseq.codingCoordStr_3=c.1910A>G;refseq.codingCoordStr_4=c.1910A>G;refseq.codingCoordStr_5=c.1799A>G;refseq.codingCoordStr_6=c.1844A>G;refseq.codingCoordStr_7=c.1910A>G;refseq.codingCoordStr_8=c.1925A>G;refseq.codingCoordStr_9=c.1910A>G;refseq.codonCoord_10=615;refseq.codonCoord_11=637;refseq.codonCoord_2=642;refseq.codonCoord_3=637;refseq.codonCoord_4=637;refseq.codonCoord_5=600;refseq.codonCoord_6=615;refseq.codonCoord_7=637;refseq.codonCoord_8=642;refseq.codonCoord_9=637;refseq.end_1=55582855;refseq.end_10=55562648;refseq.end_11=55562648;refseq.end_2=55562648;refseq.end_3=55562648;refseq.end_4=55562648;refseq.end_5=55562648;refseq.end_6=55562648;refseq.end_7=55562648;refseq.end_8=55562648;refseq.end_9=55562648;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=2239;refseq.mrnaCoord_11=2305;refseq.mrnaCoord_2=2320;refseq.mrnaCoord_3=2305;refseq.mrnaCoord_4=2305;refseq.mrnaCoord_5=2194;refseq.mrnaCoord_6=2239;refseq.mrnaCoord_7=2305;refseq.mrnaCoord_8=2320;refseq.mrnaCoord_9=2305;refseq.name2_1=PCDH15;refseq.name2_10=PCDH15;refseq.name2_11=PCDH15;refseq.name2_2=PCDH15;refseq.name2_3=PCDH15;refseq.name2_4=PCDH15;refseq.name2_5=PCDH15;refseq.name2_6=PCDH15;refseq.name2_7=PCDH15;refseq.name2_8=PCDH15;refseq.name2_9=PCDH15;refseq.name_1=NM_001142765;refseq.name_10=NM_001142773;refseq.name_11=NM_033056;refseq.name_2=NM_001142763;refseq.name_3=NM_001142764;refseq.name_4=NM_001142766;refseq.name_5=NM_001142767;refseq.name_6=NM_001142768;refseq.name_7=NM_001142770;refseq.name_8=NM_001142771;refseq.name_9=NM_001142772;refseq.numMatchingRecords=11;refseq.positionType_1=intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.N615S;refseq.proteinCoordStr_11=p.N637S;refseq.proteinCoordStr_2=p.N642S;refseq.proteinCoordStr_3=p.N637S;refseq.proteinCoordStr_4=p.N637S;refseq.proteinCoordStr_5=p.N600S;refseq.proteinCoordStr_6=p.N615S;refseq.proteinCoordStr_7=p.N637S;refseq.proteinCoordStr_8=p.N642S;refseq.proteinCoordStr_9=p.N637S;refseq.referenceAA_10=Asn;refseq.referenceAA_11=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceAA_8=Asn;refseq.referenceAA_9=Asn;refseq.referenceCodon_10=AAT;refseq.referenceCodon_11=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.referenceCodon_7=AAT;refseq.referenceCodon_8=AAT;refseq.referenceCodon_9=AAT;refseq.spliceDist_10=-8;refseq.spliceDist_11=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceDist_5=-8;refseq.spliceDist_6=-8;refseq.spliceDist_7=-8;refseq.spliceDist_8=-8;refseq.spliceDist_9=-8;refseq.spliceInfo_10=splice-donor_-8;refseq.spliceInfo_11=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.spliceInfo_5=splice-donor_-8;refseq.spliceInfo_6=splice-donor_-8;refseq.spliceInfo_7=splice-donor_-8;refseq.spliceInfo_8=splice-donor_-8;refseq.spliceInfo_9=splice-donor_-8;refseq.start_1=55509201;refseq.start_10=55562648;refseq.start_11=55562648;refseq.start_2=55562648;refseq.start_3=55562648;refseq.start_4=55562648;refseq.start_5=55562648;refseq.start_6=55562648;refseq.start_7=55562648;refseq.start_8=55562648;refseq.start_9=55562648;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_10=Ser;refseq.variantAA_11=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantAA_9=Ser;refseq.variantCodon_10=AGT;refseq.variantCodon_11=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;refseq.variantCodon_7=AGT;refseq.variantCodon_8=AGT;refseq.variantCodon_9=AGT;set=Intersection GT 1/0 chr10 56093974 . A C 421.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.03;MQ0=0;OQ=3980.00;QD=39.41;RankSumP=1.00000;SB=-1418.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr10;refseq.chr_10=chr10;refseq.chr_11=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_1=c.55T>G;refseq.codingCoordStr_10=c.55T>G;refseq.codingCoordStr_11=c.55T>G;refseq.codingCoordStr_2=c.55T>G;refseq.codingCoordStr_3=c.55T>G;refseq.codingCoordStr_4=c.55T>G;refseq.codingCoordStr_5=c.55T>G;refseq.codingCoordStr_6=c.55T>G;refseq.codingCoordStr_7=c.55T>G;refseq.codingCoordStr_8=c.55T>G;refseq.codingCoordStr_9=c.55T>G;refseq.codonCoord_1=19;refseq.codonCoord_10=19;refseq.codonCoord_11=19;refseq.codonCoord_2=19;refseq.codonCoord_3=19;refseq.codonCoord_4=19;refseq.codonCoord_5=19;refseq.codonCoord_6=19;refseq.codonCoord_7=19;refseq.codonCoord_8=19;refseq.codonCoord_9=19;refseq.end_1=56093974;refseq.end_10=56093974;refseq.end_11=56093974;refseq.end_2=56093974;refseq.end_3=56093974;refseq.end_4=56093974;refseq.end_5=56093974;refseq.end_6=56093974;refseq.end_7=56093974;refseq.end_8=56093974;refseq.end_9=56093974;refseq.frame_1=0;refseq.frame_10=0;refseq.frame_11=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=450;refseq.mrnaCoord_10=450;refseq.mrnaCoord_11=450;refseq.mrnaCoord_2=450;refseq.mrnaCoord_3=450;refseq.mrnaCoord_4=450;refseq.mrnaCoord_5=450;refseq.mrnaCoord_6=450;refseq.mrnaCoord_7=450;refseq.mrnaCoord_8=450;refseq.mrnaCoord_9=450;refseq.name2_1=PCDH15;refseq.name2_10=PCDH15;refseq.name2_11=PCDH15;refseq.name2_2=PCDH15;refseq.name2_3=PCDH15;refseq.name2_4=PCDH15;refseq.name2_5=PCDH15;refseq.name2_6=PCDH15;refseq.name2_7=PCDH15;refseq.name2_8=PCDH15;refseq.name2_9=PCDH15;refseq.name_1=NM_001142763;refseq.name_10=NM_001142773;refseq.name_11=NM_033056;refseq.name_2=NM_001142764;refseq.name_3=NM_001142765;refseq.name_4=NM_001142766;refseq.name_5=NM_001142767;refseq.name_6=NM_001142768;refseq.name_7=NM_001142770;refseq.name_8=NM_001142771;refseq.name_9=NM_001142772;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.S19A;refseq.proteinCoordStr_10=p.S19A;refseq.proteinCoordStr_11=p.S19A;refseq.proteinCoordStr_2=p.S19A;refseq.proteinCoordStr_3=p.S19A;refseq.proteinCoordStr_4=p.S19A;refseq.proteinCoordStr_5=p.S19A;refseq.proteinCoordStr_6=p.S19A;refseq.proteinCoordStr_7=p.S19A;refseq.proteinCoordStr_8=p.S19A;refseq.proteinCoordStr_9=p.S19A;refseq.referenceAA_1=Ser;refseq.referenceAA_10=Ser;refseq.referenceAA_11=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceAA_9=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_10=TCT;refseq.referenceCodon_11=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.referenceCodon_5=TCT;refseq.referenceCodon_6=TCT;refseq.referenceCodon_7=TCT;refseq.referenceCodon_8=TCT;refseq.referenceCodon_9=TCT;refseq.spliceDist_1=-37;refseq.spliceDist_10=-37;refseq.spliceDist_11=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.spliceDist_5=-37;refseq.spliceDist_6=-37;refseq.spliceDist_7=-37;refseq.spliceDist_8=-37;refseq.spliceDist_9=-37;refseq.start_1=56093974;refseq.start_10=56093974;refseq.start_11=56093974;refseq.start_2=56093974;refseq.start_3=56093974;refseq.start_4=56093974;refseq.start_5=56093974;refseq.start_6=56093974;refseq.start_7=56093974;refseq.start_8=56093974;refseq.start_9=56093974;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Ala;refseq.variantAA_10=Ala;refseq.variantAA_11=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_10=GCT;refseq.variantCodon_11=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;refseq.variantCodon_7=GCT;refseq.variantCodon_8=GCT;refseq.variantCodon_9=GCT;set=Intersection GT 1/1 chr10 57788636 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=3;HaplotypeScore=18.32;MQ=98.88;MQ0=0;OQ=7600.01;QD=19.84;RankSumP=0.0551382;SB=-2850.52;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.559A>G;refseq.codingCoordStr_3=c.559A>G;refseq.codonCoord_2=187;refseq.codonCoord_3=187;refseq.end_1=57788665;refseq.end_2=57788636;refseq.end_3=57788636;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=596;refseq.mrnaCoord_3=596;refseq.name2_1=ZWINT;refseq.name2_2=ZWINT;refseq.name2_3=ZWINT;refseq.name_1=NM_001005413;refseq.name_2=NM_007057;refseq.name_3=NM_032997;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R187G;refseq.proteinCoordStr_3=p.R187G;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=57788465;refseq.start_2=57788636;refseq.start_3=57788636;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/0 chr10 59818470 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.326T>G;refseq.codonCoord=109;refseq.end=59818470;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_003201;refseq.name2=TFAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.V109G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=35;refseq.start=59818470;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr10 60247399 . T C 106.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1703.92;QD=18.72;RankSumP=0.117397;SB=-572.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2605T>C;refseq.codonCoord=869;refseq.end=60247399;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2605;refseq.name=NM_001080512;refseq.name2=BICC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L869L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=72;refseq.start=60247399;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr10 60258559 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=16.49;MQ=98.77;MQ0=0;OQ=4331.88;QD=18.67;RankSumP=0.207266;SB=-1216.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2827T>C;refseq.codonCoord=943;refseq.end=60258559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2827;refseq.name=NM_001080512;refseq.name2=BICC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S943P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=33;refseq.start=60258559;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 60675250 . G C 168.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=17.18;MQ=98.88;MQ0=0;OQ=5195.98;QD=22.30;RankSumP=0.448198;SB=-1832.72;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.946G>C;refseq.codingCoordStr_2=c.1024G>C;refseq.codonCoord_1=316;refseq.codonCoord_2=342;refseq.end_1=60675250;refseq.end_2=60675250;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1290;refseq.name2_1=PHYHIPL;refseq.name2_2=PHYHIPL;refseq.name_1=NM_001143774;refseq.name_2=NM_032439;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V316L;refseq.proteinCoordStr_2=p.V342L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=428;refseq.spliceDist_2=428;refseq.start_1=60675250;refseq.start_2=60675250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr10 61082659 . G A 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.86;MQ=97.49;MQ0=0;OQ=122.18;QD=2.55;RankSumP=0.500000;SB=35.15;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1407C>T;refseq.codonCoord=469;refseq.end=61082659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_194298;refseq.name2=SLC16A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.F469F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=56;refseq.start=61082659;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap-filterIngatk GT 1/0 chr10 61084017 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=676;Dels=0.00;HRun=1;HaplotypeScore=20.51;MQ=98.75;MQ0=0;OQ=13057.95;QD=19.32;RankSumP=0.200059;SB=-4150.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.773C>A;refseq.codonCoord=258;refseq.end=61084017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_194298;refseq.name2=SLC16A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T258K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=337;refseq.start=61084017;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr10 61084182 . G A 150.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=2.19;MQ=98.71;MQ0=0;OQ=4783.79;QD=17.65;RankSumP=0.185418;SB=-1766.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.608C>T;refseq.codonCoord=203;refseq.end=61084182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_194298;refseq.name2=SLC16A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A203V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=172;refseq.start=61084182;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr10 61222698 . G T 159.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=774.07;QD=14.61;RankSumP=0.0157144;SB=-402.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1408C>A;refseq.codonCoord=470;refseq.end=61222698;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2044;refseq.name=NM_005436;refseq.name2=CCDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P470T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=178;refseq.start=61222698;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr10 61222780 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=99.00;MQ0=0;OQ=550.81;QD=14.89;RankSumP=0.577113;SB=-262.79;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1326G>A;refseq.codonCoord=442;refseq.end=61222780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1962;refseq.name=NM_005436;refseq.name2=CCDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P442P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=96;refseq.start=61222780;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr10 61335892 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=98.15;MQ0=0;OQ=1756.47;QD=16.73;RankSumP=0.0914104;SB=-184.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.297G>T;refseq.codonCoord=99;refseq.end=61335892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_005436;refseq.name2=CCDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V99V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=61335892;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr10 61499349 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.11296A>C;refseq.codonCoord_2=3766;refseq.end_1=61510290;refseq.end_2=61499349;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=11488;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T3766P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=-949;refseq.start_1=61497784;refseq.start_2=61499349;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr10 61499526 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.11119G>C;refseq.codonCoord_2=3707;refseq.end_1=61510290;refseq.end_2=61499526;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=11311;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A3707P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-1126;refseq.start_1=61497784;refseq.start_2=61499526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr10 61501277 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=621;Dels=0.00;HRun=1;HaplotypeScore=16.53;MQ=98.76;MQ0=0;OQ=12428.28;QD=20.01;RankSumP=0.390319;SB=-4206.28;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.9368A>G;refseq.codonCoord_2=3123;refseq.end_1=61510290;refseq.end_2=61501277;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=9560;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K3123R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-2877;refseq.start_1=61497784;refseq.start_2=61501277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr10 61501657 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=98.93;MQ0=0;OQ=4234.55;QD=24.48;RankSumP=0.351487;SB=-1723.79;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.8988G>C;refseq.codonCoord_2=2996;refseq.end_1=61510290;refseq.end_2=61501657;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=9180;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q2996H;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-3257;refseq.start_1=61497784;refseq.start_2=61501657;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr10 61501750 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=1;HaplotypeScore=27.01;MQ=98.73;MQ0=0;OQ=6974.13;QD=15.74;RankSumP=0.458891;SB=-2175.42;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.8895T>C;refseq.codonCoord_2=2965;refseq.end_1=61510290;refseq.end_2=61501750;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=9087;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A2965A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-3350;refseq.start_1=61497784;refseq.start_2=61501750;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr10 61502072 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.8573C>G;refseq.codonCoord_2=2858;refseq.end_1=61510290;refseq.end_2=61502072;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=8765;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S2858W;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=-3672;refseq.start_1=61497784;refseq.start_2=61502072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr10 61538722 . C A 234.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.92;MQ0=0;OQ=1570.61;QD=15.25;RankSumP=0.271357;SB=-739.21;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.447G>T;refseq.codingCoordStr_2=c.3045G>T;refseq.codonCoord_1=149;refseq.codonCoord_2=1015;refseq.end_1=61538722;refseq.end_2=61538722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1068;refseq.mrnaCoord_2=3237;refseq.name2_1=ANK3;refseq.name2_2=ANK3;refseq.name_1=NM_001149;refseq.name_2=NM_020987;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T149T;refseq.proteinCoordStr_2=p.T1015T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=97;refseq.spliceDist_2=97;refseq.start_1=61538722;refseq.start_2=61538722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr10 62866006 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=123;Dels=0.00;HRun=2;HaplotypeScore=4.50;MQ=98.28;MQ0=0;OQ=143.19;QD=1.16;RankSumP=0.00000;SB=260.85;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.198A>C;refseq.codonCoord=66;refseq.end=62866006;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_178505;refseq.name2=TMEM26;refseq.positionType=CDS;refseq.proteinCoordStr=p.S66S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=62866006;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr10 63190704 . T C 339.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=99.00;MQ0=0;OQ=3998.73;QD=19.99;RankSumP=0.365383;SB=-1448.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.489T>C;refseq.codonCoord=163;refseq.end=63190704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_173554;refseq.name2=C10orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.F163F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-64;refseq.start=63190704;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr10 63521332 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2104G>C;refseq.codonCoord=702;refseq.end=63521332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2130;refseq.name=NM_032199;refseq.name2=ARID5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A702P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=706;refseq.start=63521332;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 63628118 . T C 227.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.81;MQ0=0;OQ=4356.66;QD=21.57;RankSumP=0.355436;SB=-799.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1385A>G;refseq.codonCoord=462;refseq.end=63628118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_145307;refseq.name2=RTKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H462R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=91;refseq.start=63628118;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr10 63647986 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=22.13;MQ=98.22;MQ0=0;OQ=5278.96;QD=14.62;RankSumP=0.268132;SB=-988.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.862G>A;refseq.codonCoord=288;refseq.end=63647986;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_145307;refseq.name2=RTKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A288T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-27;refseq.start=63647986;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr10 63665989 . C T 431.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=5300.93;QD=41.74;RankSumP=1.00000;SB=-2322.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.528G>A;refseq.codonCoord=176;refseq.end=63665989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_145307;refseq.name2=RTKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V176V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=63665989;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr10 63829339 . G T 178.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=14.77;MQ=98.95;MQ0=0;OQ=5827.18;QD=14.14;RankSumP=0.220587;SB=-1718.66;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.1009G>T;refseq.codonCoord_3=337;refseq.end_1=63889495;refseq.end_2=63889495;refseq.end_3=63829339;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1324;refseq.name2_1=ZNF365;refseq.name2_2=ZNF365;refseq.name2_3=ZNF365;refseq.name_1=NM_199450;refseq.name_2=NM_199451;refseq.name_3=NM_014951;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A337S;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCC;refseq.spliceDist_3=47;refseq.start_1=63818352;refseq.start_2=63818352;refseq.start_3=63829339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCC;set=Intersection GT 0/1 chr10 64085190 . A G 422.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.58;MQ0=0;OQ=5455.12;QD=35.89;RankSumP=1.00000;SB=-1926.78;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.184A>G;refseq.codonCoord_2=62;refseq.end_1=64086151;refseq.end_2=64085190;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=518;refseq.name2_1=ZNF365;refseq.name2_2=ZNF365;refseq.name_1=NM_199451;refseq.name_2=NM_199452;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T62A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=58;refseq.start_1=64053027;refseq.start_2=64085190;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr10 64235481 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=7.17485e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.656A>C;refseq.codonCoord=219;refseq.end=64235481;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_032804;refseq.name2=ADO;refseq.positionType=CDS;refseq.proteinCoordStr=p.D219A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=960;refseq.start=64235481;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr10 64243777 . C T 130.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.31;MQ0=0;OQ=5012.24;QD=32.55;RankSumP=1.00000;SB=-600.82;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.627G>A;refseq.codingCoordStr_2=c.627G>A;refseq.codingCoordStr_3=c.627G>A;refseq.codingCoordStr_4=c.477G>A;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.codonCoord_3=209;refseq.codonCoord_4=159;refseq.end_1=64243777;refseq.end_2=64243777;refseq.end_3=64243777;refseq.end_4=64243777;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=781;refseq.mrnaCoord_3=836;refseq.mrnaCoord_4=864;refseq.name2_1=EGR2;refseq.name2_2=EGR2;refseq.name2_3=EGR2;refseq.name2_4=EGR2;refseq.name_1=NM_000399;refseq.name_2=NM_001136177;refseq.name_3=NM_001136178;refseq.name_4=NM_001136179;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P209P;refseq.proteinCoordStr_2=p.P209P;refseq.proteinCoordStr_3=p.P209P;refseq.proteinCoordStr_4=p.P159P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=458;refseq.spliceDist_2=458;refseq.spliceDist_3=458;refseq.spliceDist_4=458;refseq.start_1=64243777;refseq.start_2=64243777;refseq.start_3=64243777;refseq.start_4=64243777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/1 chr10 64583603 . A C 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.428571;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.483A>C;refseq.codonCoord=161;refseq.end=64583603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_030759;refseq.name2=NRBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=327;refseq.start=64583603;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 64583688 . G A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.431818;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.568G>A;refseq.codonCoord=190;refseq.end=64583688;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_030759;refseq.name2=NRBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E190K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=412;refseq.start=64583688;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr10 64597829 . C G 302.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.84;MQ0=0;OQ=8813.28;QD=21.44;RankSumP=0.465156;SB=-2977.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.6894G>C;refseq.codingCoordStr_2=c.7605G>C;refseq.codonCoord_1=2298;refseq.codonCoord_2=2535;refseq.end_1=64597829;refseq.end_2=64597829;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7558;refseq.mrnaCoord_2=7905;refseq.name2_1=JMJD1C;refseq.name2_2=JMJD1C;refseq.name_1=NM_004241;refseq.name_2=NM_032776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E2298D;refseq.proteinCoordStr_2=p.E2535D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=64597829;refseq.start_2=64597829;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr10 64615370 . G A 280.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.83;MQ0=0;OQ=10288.05;QD=42.34;RankSumP=1.00000;SB=-4565.45;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.6078C>T;refseq.codingCoordStr_2=c.6789C>T;refseq.codonCoord_1=2026;refseq.codonCoord_2=2263;refseq.end_1=64615370;refseq.end_2=64615370;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6742;refseq.mrnaCoord_2=7089;refseq.name2_1=JMJD1C;refseq.name2_2=JMJD1C;refseq.name_1=NM_004241;refseq.name_2=NM_032776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D2026D;refseq.proteinCoordStr_2=p.D2263D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=64615370;refseq.start_2=64615370;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr10 64637451 . A T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=475;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.74;MQ0=0;OQ=18855.84;QD=39.70;RankSumP=1.00000;SB=-9204.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3327T>A;refseq.codingCoordStr_2=c.3984T>A;refseq.codonCoord_1=1109;refseq.codonCoord_2=1328;refseq.end_1=64637451;refseq.end_2=64637451;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3991;refseq.mrnaCoord_2=4284;refseq.name2_1=JMJD1C;refseq.name2_2=JMJD1C;refseq.name_1=NM_004241;refseq.name_2=NM_032776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1109R;refseq.proteinCoordStr_2=p.R1328R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-1091;refseq.spliceDist_2=-1091;refseq.start_1=64637451;refseq.start_2=64637451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr10 64644543 . A T 284.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=98.83;MQ0=0;OQ=16037.87;QD=39.50;RankSumP=1.00000;SB=-6691.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.733T>A;refseq.codingCoordStr_2=c.1390T>A;refseq.codonCoord_1=245;refseq.codonCoord_2=464;refseq.end_1=64644543;refseq.end_2=64644543;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1690;refseq.name2_1=JMJD1C;refseq.name2_2=JMJD1C;refseq.name_1=NM_004241;refseq.name_2=NM_032776;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S245T;refseq.proteinCoordStr_2=p.S464T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=375;refseq.spliceDist_2=375;refseq.start_1=64644543;refseq.start_2=64644543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr10 67809045 . G A 105.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=18.07;MQ=98.71;MQ0=0;OQ=9365.40;QD=22.14;RankSumP=0.201666;SB=-3201.54;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1603C>T;refseq.codingCoordStr_2=c.1603C>T;refseq.codonCoord_1=535;refseq.codonCoord_2=535;refseq.end_1=67809045;refseq.end_2=67809045;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1726;refseq.mrnaCoord_2=1800;refseq.name2_1=CTNNA3;refseq.name2_2=CTNNA3;refseq.name_1=NM_001127384;refseq.name_2=NM_013266;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R535C;refseq.proteinCoordStr_2=p.R535C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=67809045;refseq.start_2=67809045;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr10 69342733 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.969A>G;refseq.codingCoordStr_2=c.1854A>G;refseq.codonCoord_1=323;refseq.codonCoord_2=618;refseq.end_1=69342733;refseq.end_2=69342733;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1401;refseq.mrnaCoord_2=1907;refseq.name2_1=SIRT1;refseq.name2_2=SIRT1;refseq.name_1=NM_001142498;refseq.name_2=NM_012238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G323G;refseq.proteinCoordStr_2=p.G618G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=69342733;refseq.start_2=69342733;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr10 69551334 . G A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.257518;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.133G>A;refseq.codonCoord=45;refseq.end=69551334;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=134;refseq.start=69551334;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr10 69596103 . T C 259.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=6.52;MQ=98.64;MQ0=0;OQ=4119.59;QD=19.25;RankSumP=0.275074;SB=-1505.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1647T>C;refseq.codonCoord=549;refseq.end=69596103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1879;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S549S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=47;refseq.start=69596103;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr10 69596340 . C G 268.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=9.06;MQ=98.74;MQ0=0;OQ=6477.98;QD=22.65;RankSumP=0.259498;SB=-1601.35;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1884C>G;refseq.codonCoord=628;refseq.end=69596340;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2116;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.F628L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-90;refseq.start=69596340;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr10 69603927 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=490;Dels=0.00;HRun=1;HaplotypeScore=8.72;MQ=98.75;MQ0=0;OQ=9054.58;QD=18.48;RankSumP=0.114139;SB=-3394.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2072G>A;refseq.codonCoord=691;refseq.end=69603927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2304;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S691N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=99;refseq.start=69603927;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr10 69603975 . G A 100.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=10.82;MQ=98.69;MQ0=0;OQ=7873.17;QD=19.06;RankSumP=0.00209133;SB=-2978.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2120G>A;refseq.codonCoord=707;refseq.end=69603975;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2352;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S707N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=147;refseq.start=69603975;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/0 chr10 69604264 . C G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=2;HaplotypeScore=5.47;MQ=98.54;MQ0=0;OQ=8664.01;QD=47.60;RankSumP=1.00000;SB=-4117.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2409C>G;refseq.codonCoord=803;refseq.end=69604264;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2641;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S803R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-156;refseq.start=69604264;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr10 69618850 . T C 204.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.83;MQ0=0;OQ=11995.21;QD=41.80;RankSumP=1.00000;SB=-5393.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2886T>C;refseq.codonCoord=962;refseq.end=69618850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3118;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V962V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-40;refseq.start=69618850;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr10 69629248 . C A 311.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.39;MQ0=0;OQ=4544.80;QD=16.59;RankSumP=0.000155560;SB=-1677.67;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3403C>A;refseq.codonCoord=1135;refseq.end=69629248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3635;refseq.name=NM_032578;refseq.name2=MYPN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1135T;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-91;refseq.start=69629248;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr10 69721934 . A G 264.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=11.27;MQ=98.85;MQ0=0;OQ=11254.87;QD=37.14;RankSumP=1.00000;SB=-4789.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.351T>C;refseq.codingCoordStr_2=c.351T>C;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.end_1=69721934;refseq.end_2=69721934;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=554;refseq.mrnaCoord_2=554;refseq.name2_1=PBLD;refseq.name2_2=PBLD;refseq.name_1=NM_001033083;refseq.name_2=NM_022129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D117D;refseq.proteinCoordStr_2=p.D117D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=69721934;refseq.start_2=69721934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr10 69771423 . G C 242.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=263;Dels=0.00;HRun=1;HaplotypeScore=4.06;MQ=98.71;MQ0=0;OQ=4288.32;QD=16.31;RankSumP=0.0405943;SB=-1111.44;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.851G>C;refseq.codingCoordStr_2=c.806G>C;refseq.codonCoord_1=284;refseq.codonCoord_2=269;refseq.end_1=69771423;refseq.end_2=69771423;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1080;refseq.mrnaCoord_2=1035;refseq.name2_1=HNRNPH3;refseq.name2_2=HNRNPH3;refseq.name_1=NM_012207;refseq.name_2=NM_021644;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G284A;refseq.proteinCoordStr_2=p.G269A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=69771423;refseq.start_2=69771423;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr10 69775566 . G A 200.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=5.59;MQ=98.82;MQ0=0;OQ=14957.92;QD=42.74;RankSumP=1.00000;SB=-6369.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1891C>T;refseq.codonCoord=631;refseq.end=69775566;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_017987;refseq.name2=RUFY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L631L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=109;refseq.start=69775566;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr10 70002678 . T A 314.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.71;MQ0=0;OQ=4388.04;QD=16.19;RankSumP=0.394328;SB=-1626.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.577T>A;refseq.codonCoord=193;refseq.end=70002678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S193T;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=699;refseq.start=70002678;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr10 70002868 . C T 354.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=98.87;MQ0=0;OQ=4722.55;QD=19.43;RankSumP=0.381071;SB=-1934.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.767C>T;refseq.codonCoord=256;refseq.end=70002868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1272;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A256V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=889;refseq.start=70002868;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr10 70075243 . G A 172.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=5.60;MQ=98.84;MQ0=0;OQ=1742.52;QD=17.78;RankSumP=0.283305;SB=-707.20;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2751G>A;refseq.codonCoord=917;refseq.end=70075243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3256;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E917E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=783;refseq.start=70075243;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr10 70075545 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.92;MQ0=0;OQ=3826.32;QD=25.17;RankSumP=0.363246;SB=-1066.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3053A>G;refseq.codonCoord=1018;refseq.end=70075545;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3558;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1018S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1085;refseq.start=70075545;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr10 70075547 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=153;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.92;MQ0=0;OQ=3922.58;QD=25.64;RankSumP=0.264532;SB=-1069.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3055A>G;refseq.codonCoord=1019;refseq.end=70075547;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3560;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1019E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1087;refseq.start=70075547;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr10 70075861 . A G 227.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=2195.62;QD=15.91;RankSumP=0.238384;SB=-1065.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3369A>G;refseq.codonCoord=1123;refseq.end=70075861;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3874;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1123M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-908;refseq.start=70075861;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr10 70116280 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.5214A>C;refseq.codonCoord=1738;refseq.end=70116280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5719;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1738A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=162;refseq.start=70116280;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr10 70121290 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.6124A>C;refseq.codonCoord=2042;refseq.end=70121290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6629;refseq.name=NM_030625;refseq.name2=TET1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2042P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=720;refseq.start=70121290;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 70152316 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.49A>C;refseq.codonCoord=17;refseq.end=70152316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_018237;refseq.name2=CCAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T17P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-25;refseq.start=70152316;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 70166779 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=145;Dels=0.00;HRun=2;HaplotypeScore=24.92;MQ=96.53;MQ0=0;OQ=53.86;QD=0.37;RankSumP=0.00000;SB=98.36;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.214C>A;refseq.codonCoord=72;refseq.end=70166779;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_018237;refseq.name2=CCAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q72K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-33;refseq.start=70166779;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr10 70172294 . G A 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=760;Dels=0.00;HRun=0;HaplotypeScore=29.34;MQ=98.79;MQ0=0;OQ=31607.44;QD=41.59;RankSumP=1.00000;SB=-14363.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.480G>A;refseq.codonCoord=160;refseq.end=70172294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_018237;refseq.name2=CCAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T160T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-39;refseq.start=70172294;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr10 70178933 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.861A>C;refseq.codonCoord=287;refseq.end=70178933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=980;refseq.name=NM_018237;refseq.name2=CCAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S287S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=35;refseq.start=70178933;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr10 70311866 . T C 324.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=10.22;MQ=98.92;MQ0=0;OQ=5486.59;QD=20.78;RankSumP=0.362580;SB=-1628.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.457T>C;refseq.codingCoordStr_2=c.457T>C;refseq.codingCoordStr_3=c.457T>C;refseq.codingCoordStr_4=c.127T>C;refseq.codingCoordStr_5=c.457T>C;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.codonCoord_3=153;refseq.codonCoord_4=43;refseq.codonCoord_5=153;refseq.end_1=70311866;refseq.end_2=70311866;refseq.end_3=70311866;refseq.end_4=70311866;refseq.end_5=70311866;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=544;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=544;refseq.mrnaCoord_4=275;refseq.mrnaCoord_5=544;refseq.name2_1=STOX1;refseq.name2_2=STOX1;refseq.name2_3=STOX1;refseq.name2_4=STOX1;refseq.name2_5=STOX1;refseq.name_1=NM_001130159;refseq.name_2=NM_001130160;refseq.name_3=NM_001130161;refseq.name_4=NM_001130162;refseq.name_5=NM_152709;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Y153H;refseq.proteinCoordStr_2=p.Y153H;refseq.proteinCoordStr_3=p.Y153H;refseq.proteinCoordStr_4=p.Y43H;refseq.proteinCoordStr_5=p.Y153H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceDist_4=-7;refseq.spliceDist_5=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.spliceInfo_4=splice-donor_-7;refseq.spliceInfo_5=splice-donor_-7;refseq.start_1=70311866;refseq.start_2=70311866;refseq.start_3=70311866;refseq.start_4=70311866;refseq.start_5=70311866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=Intersection GT 1/0 chr10 70315382 . A C 155.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=587;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.89;MQ0=0;OQ=11290.75;QD=19.23;RankSumP=0.0167776;SB=-4310.80;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_3=c.1824A>C;refseq.codingCoordStr_4=c.1494A>C;refseq.codingCoordStr_5=c.1824A>C;refseq.codonCoord_3=608;refseq.codonCoord_4=498;refseq.codonCoord_5=608;refseq.end_1=70322340;refseq.end_2=70322340;refseq.end_3=70315382;refseq.end_4=70315382;refseq.end_5=70315382;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=1911;refseq.mrnaCoord_4=1642;refseq.mrnaCoord_5=1911;refseq.name2_1=STOX1;refseq.name2_2=STOX1;refseq.name2_3=STOX1;refseq.name2_4=STOX1;refseq.name2_5=STOX1;refseq.name_1=NM_001130160;refseq.name_2=NM_001130159;refseq.name_3=NM_001130161;refseq.name_4=NM_001130162;refseq.name_5=NM_152709;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.E608D;refseq.proteinCoordStr_4=p.E498D;refseq.proteinCoordStr_5=p.E608D;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.spliceDist_3=-999;refseq.spliceDist_4=-999;refseq.spliceDist_5=-999;refseq.start_1=70311883;refseq.start_2=70314232;refseq.start_3=70315382;refseq.start_4=70315382;refseq.start_5=70315382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 0/1 chr10 70315703 . C T 282.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=10.61;MQ=98.79;MQ0=0;OQ=8737.60;QD=20.41;RankSumP=0.445797;SB=-3609.62;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_3=c.2145C>T;refseq.codingCoordStr_4=c.1815C>T;refseq.codingCoordStr_5=c.2145C>T;refseq.codonCoord_3=715;refseq.codonCoord_4=605;refseq.codonCoord_5=715;refseq.end_1=70322340;refseq.end_2=70322340;refseq.end_3=70315703;refseq.end_4=70315703;refseq.end_5=70315703;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=2232;refseq.mrnaCoord_4=1963;refseq.mrnaCoord_5=2232;refseq.name2_1=STOX1;refseq.name2_2=STOX1;refseq.name2_3=STOX1;refseq.name2_4=STOX1;refseq.name2_5=STOX1;refseq.name_1=NM_001130160;refseq.name_2=NM_001130159;refseq.name_3=NM_001130161;refseq.name_4=NM_001130162;refseq.name_5=NM_152709;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.N715N;refseq.proteinCoordStr_4=p.N605N;refseq.proteinCoordStr_5=p.N715N;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_3=-678;refseq.spliceDist_4=-678;refseq.spliceDist_5=-678;refseq.start_1=70311883;refseq.start_2=70314232;refseq.start_3=70315703;refseq.start_4=70315703;refseq.start_5=70315703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 0/1 chr10 70366719 . C T 263.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.44;MQ0=0;OQ=10449.22;QD=42.13;RankSumP=1.00000;SB=-4835.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1617C>T;refseq.codonCoord=539;refseq.end=70366719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1724;refseq.name=NM_024045;refseq.name2=DDX50;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y539Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=22;refseq.start=70366719;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr10 70370950 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=1.97;MQ=94.45;MQ0=3;OQ=1832.04;QD=12.72;RankSumP=0.430173;SB=-590.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1884A>G;refseq.codonCoord=628;refseq.end=70370950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1991;refseq.name=NM_024045;refseq.name2=DDX50;refseq.positionType=CDS;refseq.proteinCoordStr=p.G628G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=70370950;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr10 70376225 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2047T>G;refseq.codonCoord=683;refseq.end=70376225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2154;refseq.name=NM_024045;refseq.name2=DDX50;refseq.positionType=CDS;refseq.proteinCoordStr=p.S683A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=112;refseq.start=70376225;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr10 70526858 . G A 345.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.97;MQ0=0;OQ=9939.18;QD=43.21;RankSumP=1.00000;SB=-3845.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.92G>A;refseq.codonCoord=31;refseq.end=70526858;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_002727;refseq.name2=SRGN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R31Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=13;refseq.start=70526858;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr10 70526969 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=233;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.92;MQ0=0;OQ=4514.92;QD=19.38;RankSumP=0.0796907;SB=-1131.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.203C>G;refseq.codonCoord=68;refseq.end=70526969;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_002727;refseq.name2=SRGN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P68R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-25;refseq.start=70526969;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr10 70562797 . C T 356.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.29;MQ0=0;OQ=8010.60;QD=43.54;RankSumP=1.00000;SB=-3626.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.141C>T;refseq.codingCoordStr_2=c.141C>T;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=70562797;refseq.end_2=70562797;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=267;refseq.mrnaCoord_2=267;refseq.name2_1=VPS26A;refseq.name2_2=VPS26A;refseq.name_1=NM_001035260;refseq.name_2=NM_004896;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S47S;refseq.proteinCoordStr_2=p.S47S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=70562797;refseq.start_2=70562797;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr10 70662670 . C T 438.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.76;MQ0=0;OQ=6434.28;QD=38.07;RankSumP=1.00000;SB=-2922.37;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.371C>T;refseq.codonCoord=124;refseq.end=70662670;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_025130;refseq.name2=HKDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T124I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=70662670;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr10 70680381 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=578;Dels=0.00;HRun=2;HaplotypeScore=18.84;MQ=98.83;MQ0=0;OQ=11802.15;QD=20.42;RankSumP=0.339796;SB=-5006.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1803C>T;refseq.codonCoord=601;refseq.end=70680381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1936;refseq.name=NM_025130;refseq.name2=HKDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F601F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-34;refseq.start=70680381;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr10 70688666 . T C 261.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.17;MQ0=0;OQ=3441.97;QD=37.01;RankSumP=1.00000;SB=-1245.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2161T>C;refseq.codonCoord=721;refseq.end=70688666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2294;refseq.name=NM_025130;refseq.name2=HKDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W721R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-56;refseq.start=70688666;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr10 70730616 . A G 178.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.59;MQ0=0;OQ=795.62;QD=17.30;RankSumP=0.347090;SB=-101.82;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.20A>G;refseq.codonCoord_3=7;refseq.end_1=70773578;refseq.end_2=70773578;refseq.end_3=70730616;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=519;refseq.name2_1=HK1;refseq.name2_2=HK1;refseq.name2_3=HK1;refseq.name_1=NM_033497;refseq.name_2=NM_033498;refseq.name_3=NM_033500;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H7R;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAT;refseq.spliceDist_3=-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=70725453;refseq.start_2=70725453;refseq.start_3=70730616;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGT;set=Intersection GT 0/1 chr10 70773697 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.172A>C;refseq.codingCoordStr_2=c.169A>C;refseq.codingCoordStr_3=c.184A>C;refseq.codingCoordStr_4=c.184A>C;refseq.codingCoordStr_5=c.136A>C;refseq.codonCoord_1=58;refseq.codonCoord_2=57;refseq.codonCoord_3=62;refseq.codonCoord_4=62;refseq.codonCoord_5=46;refseq.end_1=70773697;refseq.end_2=70773697;refseq.end_3=70773697;refseq.end_4=70773697;refseq.end_5=70773697;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=273;refseq.mrnaCoord_2=270;refseq.mrnaCoord_3=488;refseq.mrnaCoord_4=542;refseq.mrnaCoord_5=635;refseq.name2_1=HK1;refseq.name2_2=HK1;refseq.name2_3=HK1;refseq.name2_4=HK1;refseq.name2_5=HK1;refseq.name_1=NM_000188;refseq.name_2=NM_033496;refseq.name_3=NM_033497;refseq.name_4=NM_033498;refseq.name_5=NM_033500;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T58P;refseq.proteinCoordStr_2=p.T57P;refseq.proteinCoordStr_3=p.T62P;refseq.proteinCoordStr_4=p.T62P;refseq.proteinCoordStr_5=p.T46P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.spliceDist_5=-55;refseq.start_1=70773697;refseq.start_2=70773697;refseq.start_3=70773697;refseq.start_4=70773697;refseq.start_5=70773697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=FilteredInAll GT 0/1 chr10 70838691 . A T 118.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.52;MQ0=0;OQ=1105.65;QD=36.86;RankSumP=1.00000;SB=-94.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.734T>A;refseq.codonCoord=245;refseq.end=70838691;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_001057;refseq.name2=TACR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M245K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=70838691;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr10 71002210 . A G 168.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=708.12;QD=32.19;RankSumP=1.00000;SB=-273.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.596T>C;refseq.codonCoord=199;refseq.end=71002210;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_020999;refseq.name2=NEUROG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F199S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-414;refseq.start=71002210;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr10 71061544 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.56;MQ0=0;OQ=1868.71;QD=10.10;RankSumP=0.0345671;SB=-854.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.39T>C;refseq.codonCoord=13;refseq.end=71061544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_145306;refseq.name2=C10orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.D13D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-58;refseq.start=71061544;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr10 71062563 . C T 96.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=10.95;MQ=95.63;MQ0=0;OQ=3001.46;QD=30.32;RankSumP=1.00000;SB=-840.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.108C>T;refseq.codonCoord=36;refseq.end=71062563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_145306;refseq.name2=C10orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.N36N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=12;refseq.start=71062563;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr10 71062698 . T C 331.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.21;MQ0=0;OQ=7278.73;QD=34.66;RankSumP=1.00000;SB=-1407.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.243T>C;refseq.codonCoord=81;refseq.end=71062698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_145306;refseq.name2=C10orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.L81L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=147;refseq.start=71062698;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr10 71544689 . G A 134.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.31;MQ0=0;OQ=1150.58;QD=20.92;RankSumP=0.617634;SB=-157.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.963C>T;refseq.codonCoord=321;refseq.end=71544689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1177;refseq.name=NM_032797;refseq.name2=AIFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y321Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=71544689;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr10 71544740 . G A 148.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=4.23;MQ=98.69;MQ0=0;OQ=2154.98;QD=16.08;RankSumP=0.144280;SB=-505.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.912C>T;refseq.codonCoord=304;refseq.end=71544740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_032797;refseq.name2=AIFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I304I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-59;refseq.start=71544740;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr10 71544872 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=98.84;MQ0=0;OQ=2665.45;QD=17.31;RankSumP=0.152651;SB=-546.55;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.780A>G;refseq.codonCoord=260;refseq.end=71544872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_032797;refseq.name2=AIFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L260L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=11;refseq.start=71544872;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr10 71546388 . C T 156.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=320.65;QD=17.81;RankSumP=0.634050;SB=-48.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.765G>A;refseq.codonCoord=255;refseq.end=71546388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_032797;refseq.name2=AIFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A255A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=71546388;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr10 71550864 . A G 314.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=14.11;MQ=98.25;MQ0=0;OQ=8175.01;QD=19.33;RankSumP=0.215173;SB=-2821.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.404T>C;refseq.codonCoord=135;refseq.end=71550864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_032797;refseq.name2=AIFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M135T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-11;refseq.start=71550864;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr10 71575264 . A C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500001;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1085T>G;refseq.codingCoordStr_2=c.1085T>G;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.end_1=71575264;refseq.end_2=71575264;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1239;refseq.mrnaCoord_2=1239;refseq.name2_1=TYSND1;refseq.name2_2=TYSND1;refseq.name_1=NM_001040273;refseq.name_2=NM_173555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V362G;refseq.proteinCoordStr_2=p.V362G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=71575264;refseq.start_2=71575264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr10 71576156 . T C 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=97.51;MQ0=0;OQ=811.81;QD=27.06;RankSumP=1.00000;SB=-270.77;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.193A>G;refseq.codingCoordStr_2=c.193A>G;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=71576156;refseq.end_2=71576156;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=347;refseq.mrnaCoord_2=347;refseq.name2_1=TYSND1;refseq.name2_2=TYSND1;refseq.name_1=NM_001040273;refseq.name_2=NM_173555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T65A;refseq.proteinCoordStr_2=p.T65A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=347;refseq.spliceDist_2=347;refseq.start_1=71576156;refseq.start_2=71576156;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr10 71644307 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.339T>G;refseq.codonCoord=113;refseq.end=71644307;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_021129;refseq.name2=PPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C113W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=42;refseq.start=71644307;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr10 71849752 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=2407.19;QD=24.32;RankSumP=0.172505;SB=-674.14;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.222C>T;refseq.codonCoord=74;refseq.end=71849752;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_004096;refseq.name2=EIF4EBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H74H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=77;refseq.start=71849752;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr10 71865445 . T C 136.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.08;MQ0=0;OQ=486.18;QD=15.19;RankSumP=0.219409;SB=-157.67;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.494A>G;refseq.codonCoord=165;refseq.end=71865445;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_018055;refseq.name2=NODAL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H165R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=301;refseq.start=71865445;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr10 71994149 . A G 193.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=8.96;MQ=97.85;MQ0=0;OQ=7004.19;QD=36.29;RankSumP=1.00000;SB=-3027.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2286A>G;refseq.codonCoord=762;refseq.end=71994149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2567;refseq.name=NM_014431;refseq.name2=KIAA1274;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q762Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=24;refseq.start=71994149;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr10 71996406 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=9.60;MQ=97.65;MQ0=0;OQ=972.76;QD=14.52;RankSumP=0.00909577;SB=-496.03;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2482G>A;refseq.codonCoord=828;refseq.end=71996406;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2763;refseq.name=NM_014431;refseq.name2=KIAA1274;refseq.positionType=CDS;refseq.proteinCoordStr=p.G828R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=64;refseq.start=71996406;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/0 chr10 72028583 . G A 350.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=98.54;MQ0=0;OQ=7847.58;QD=40.45;RankSumP=1.00000;SB=-2292.02;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.900C>T;refseq.codingCoordStr_2=c.900C>T;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=72028583;refseq.end_2=72028583;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1061;refseq.mrnaCoord_2=1035;refseq.name2_1=PRF1;refseq.name2_2=PRF1;refseq.name_1=NM_001083116;refseq.name_2=NM_005041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H300H;refseq.proteinCoordStr_2=p.H300H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=361;refseq.spliceDist_2=361;refseq.start_1=72028583;refseq.start_2=72028583;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr10 72104648 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.413A>G;refseq.codingCoordStr_2=c.413A>G;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.end_1=72104648;refseq.end_2=72104648;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=413;refseq.mrnaCoord_2=413;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E138G;refseq.proteinCoordStr_2=p.E138G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.start_1=72104648;refseq.start_2=72104648;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr10 72104687 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.452A>G;refseq.codingCoordStr_2=c.452A>G;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=72104687;refseq.end_2=72104687;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=452;refseq.mrnaCoord_2=452;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E151G;refseq.proteinCoordStr_2=p.E151G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=72104687;refseq.start_2=72104687;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr10 72170769 . T C 115.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=221;Dels=0.00;HRun=2;HaplotypeScore=9.74;MQ=98.35;MQ0=0;OQ=4430.50;QD=20.05;RankSumP=0.00382370;SB=-1609.07;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1769T>C;refseq.codingCoordStr_2=c.1778T>C;refseq.codonCoord_1=590;refseq.codonCoord_2=593;refseq.end_1=72170769;refseq.end_2=72170769;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1769;refseq.mrnaCoord_2=1778;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L590P;refseq.proteinCoordStr_2=p.L593P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=72170769;refseq.start_2=72170769;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=filterInsoap-gatk GT 1/0 chr10 72170869 . C G 266.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=99.00;MQ0=0;OQ=2542.10;QD=20.84;RankSumP=0.459482;SB=-1077.33;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1869C>G;refseq.codingCoordStr_2=c.1878C>G;refseq.codonCoord_1=623;refseq.codonCoord_2=626;refseq.end_1=72170869;refseq.end_2=72170869;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1869;refseq.mrnaCoord_2=1878;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S623S;refseq.proteinCoordStr_2=p.S626S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=72170869;refseq.start_2=72170869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr10 72187764 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2978T>G;refseq.codingCoordStr_2=c.2987T>G;refseq.codonCoord_1=993;refseq.codonCoord_2=996;refseq.end_1=72187764;refseq.end_2=72187764;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2978;refseq.mrnaCoord_2=2987;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V993G;refseq.proteinCoordStr_2=p.V996G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=72187764;refseq.start_2=72187764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr10 72187836 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.36;MQ=98.40;MQ0=0;OQ=574.68;QD=10.45;RankSumP=0.166800;SB=-313.20;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3050G>A;refseq.codingCoordStr_2=c.3059G>A;refseq.codonCoord_1=1017;refseq.codonCoord_2=1020;refseq.end_1=72187836;refseq.end_2=72187836;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3050;refseq.mrnaCoord_2=3059;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1017N;refseq.proteinCoordStr_2=p.S1020N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=72187836;refseq.start_2=72187836;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr10 72187843 . C T 173.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.28;MQ0=0;OQ=935.42;QD=20.34;RankSumP=0.0213707;SB=-230.20;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3057C>T;refseq.codingCoordStr_2=c.3066C>T;refseq.codonCoord_1=1019;refseq.codonCoord_2=1022;refseq.end_1=72187843;refseq.end_2=72187843;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3057;refseq.mrnaCoord_2=3066;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1019P;refseq.proteinCoordStr_2=p.P1022P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=72187843;refseq.start_2=72187843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr10 72188015 . A G 130.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=98.89;MQ0=0;OQ=2846.75;QD=14.02;RankSumP=0.463189;SB=-925.37;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3146A>G;refseq.codingCoordStr_2=c.3155A>G;refseq.codonCoord_1=1049;refseq.codonCoord_2=1052;refseq.end_1=72188015;refseq.end_2=72188015;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3146;refseq.mrnaCoord_2=3155;refseq.name2_1=ADAMTS14;refseq.name2_2=ADAMTS14;refseq.name_1=NM_080722;refseq.name_2=NM_139155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1049G;refseq.proteinCoordStr_2=p.E1052G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=72188015;refseq.start_2=72188015;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr10 72205013 . C T 435.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.67;MQ0=0;OQ=6912.01;QD=41.39;RankSumP=1.00000;SB=-2925.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.710G>A;refseq.codonCoord=237;refseq.end=72205013;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_152710;refseq.name2=C10orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.R237Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=20;refseq.start=72205013;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr10 72206942 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=7.78;MQ=98.74;MQ0=0;OQ=1927.29;QD=12.20;RankSumP=0.144703;SB=-728.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=72206942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1053;refseq.name=NM_152710;refseq.name2=C10orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A221A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-28;refseq.start=72206942;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 72289211 . C T 263.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=3.78;MQ=98.90;MQ0=0;OQ=12597.07;QD=42.70;RankSumP=1.00000;SB=-5534.27;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.564C>T;refseq.codonCoord=188;refseq.end=72289211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_003901;refseq.name2=SGPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I188I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-52;refseq.start=72289211;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr10 72303206 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1152T>G;refseq.codonCoord=384;refseq.end=72303206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1374;refseq.name=NM_003901;refseq.name2=SGPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G384G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=93;refseq.start=72303206;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 72714586 . G A 345.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.49;MQ0=0;OQ=3875.35;QD=33.99;RankSumP=1.00000;SB=-1091.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.408G>A;refseq.codonCoord=136;refseq.end=72714586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_170744;refseq.name2=UNC5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A136A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-41;refseq.start=72714586;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 72752525 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.8T>G;refseq.codingCoordStr_4=c.8T>G;refseq.codonCoord_3=3;refseq.codonCoord_4=3;refseq.end_1=72752525;refseq.end_2=72752525;refseq.end_3=72752525;refseq.end_4=72752525;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=65;refseq.mrnaCoord_2=65;refseq.mrnaCoord_3=65;refseq.mrnaCoord_4=65;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V3G;refseq.proteinCoordStr_4=p.V3G;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.start_1=72752525;refseq.start_2=72752525;refseq.start_3=72752525;refseq.start_4=72752525;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=FilteredInAll GT 1/0 chr10 72752569 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=802;Dels=0.00;HRun=1;HaplotypeScore=24.75;MQ=98.47;MQ0=0;OQ=12343.40;QD=15.39;RankSumP=0.0115921;SB=-3173.74;SecondBestBaseQ=23;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.52A>G;refseq.codingCoordStr_4=c.52A>G;refseq.codonCoord_3=18;refseq.codonCoord_4=18;refseq.end_1=72752569;refseq.end_2=72752569;refseq.end_3=72752569;refseq.end_4=72752569;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=109;refseq.mrnaCoord_2=109;refseq.mrnaCoord_3=109;refseq.mrnaCoord_4=109;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.R18G;refseq.proteinCoordStr_4=p.R18G;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.start_1=72752569;refseq.start_2=72752569;refseq.start_3=72752569;refseq.start_4=72752569;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=Intersection GT 0/1 chr10 72781414 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=495;Dels=0.00;HRun=2;HaplotypeScore=13.54;MQ=98.81;MQ0=0;OQ=8897.45;QD=17.97;RankSumP=0.132884;SB=-2856.48;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.473C>T;refseq.codingCoordStr_4=c.473C>T;refseq.codonCoord_3=158;refseq.codonCoord_4=158;refseq.end_1=72785833;refseq.end_2=72781414;refseq.end_3=72781414;refseq.end_4=72781414;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=447;refseq.mrnaCoord_3=530;refseq.mrnaCoord_4=530;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033414;refseq.name_2=NR_033413;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.S158F;refseq.proteinCoordStr_4=p.S158F;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.spliceDist_4=90;refseq.start_1=72752828;refseq.start_2=72781414;refseq.start_3=72781414;refseq.start_4=72781414;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_3=TTC;refseq.variantCodon_4=TTC;set=Intersection GT 0/1 chr10 72785947 . T C 87.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=354;Dels=0.00;HRun=1;HaplotypeScore=5.28;MQ=98.76;MQ0=0;OQ=13820.79;QD=39.04;RankSumP=1.00000;SB=-6580.00;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.714T>C;refseq.codingCoordStr_4=c.714T>C;refseq.codonCoord_3=238;refseq.codonCoord_4=238;refseq.end_1=72785947;refseq.end_2=72785947;refseq.end_3=72785947;refseq.end_4=72785947;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=461;refseq.mrnaCoord_3=771;refseq.mrnaCoord_4=771;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T238T;refseq.proteinCoordStr_4=p.T238T;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-66;refseq.spliceDist_4=-60;refseq.start_1=72785947;refseq.start_2=72785947;refseq.start_3=72785947;refseq.start_4=72785947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr10 72785948 . G A 257.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=98.76;MQ0=0;OQ=13589.52;QD=38.17;RankSumP=1.00000;SB=-6761.11;SecondBestBaseQ=8;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.715G>A;refseq.codingCoordStr_4=c.715G>A;refseq.codonCoord_3=239;refseq.codonCoord_4=239;refseq.end_1=72785948;refseq.end_2=72785948;refseq.end_3=72785948;refseq.end_4=72785948;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=689;refseq.mrnaCoord_2=462;refseq.mrnaCoord_3=772;refseq.mrnaCoord_4=772;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V239I;refseq.proteinCoordStr_4=p.V239I;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-65;refseq.spliceDist_4=-59;refseq.start_1=72785948;refseq.start_2=72785948;refseq.start_3=72785948;refseq.start_4=72785948;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/1 chr10 72791919 . A G 238.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.80;MQ0=0;OQ=9560.50;QD=34.51;RankSumP=1.00000;SB=-4249.12;SecondBestBaseQ=2;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.*205A>G;refseq.codingCoordStr_4=c.976A>G;refseq.codonCoord_4=326;refseq.end_1=72791919;refseq.end_2=72791919;refseq.end_3=72791919;refseq.end_4=72791919;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=723;refseq.mrnaCoord_3=1039;refseq.mrnaCoord_4=1033;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.I326V;refseq.referenceAA_4=Ile;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=203;refseq.spliceDist_2=203;refseq.spliceDist_3=203;refseq.spliceDist_4=203;refseq.start_1=72791919;refseq.start_2=72791919;refseq.start_3=72791919;refseq.start_4=72791919;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Val;refseq.variantCodon_4=GTC;set=Intersection GT 1/1 chr10 72791951 . T C 318.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=98.78;MQ0=0;OQ=10256.95;QD=39.91;RankSumP=1.00000;SB=-4813.62;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_3=c.*237T>C;refseq.codingCoordStr_4=c.1008T>C;refseq.codonCoord_4=336;refseq.end_1=72791951;refseq.end_2=72791951;refseq.end_3=72791951;refseq.end_4=72791951;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=755;refseq.mrnaCoord_3=1071;refseq.mrnaCoord_4=1065;refseq.name2_1=SLC29A3;refseq.name2_2=SLC29A3;refseq.name2_3=SLC29A3;refseq.name2_4=SLC29A3;refseq.name_1=NR_033413;refseq.name_2=NR_033414;refseq.name_3=NM_001174098;refseq.name_4=NM_018344;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G336G;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=235;refseq.spliceDist_2=235;refseq.spliceDist_3=235;refseq.spliceDist_4=235;refseq.start_1=72791951;refseq.start_2=72791951;refseq.start_3=72791951;refseq.start_4=72791951;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGC;set=Intersection GT 1/1 chr10 73190638 . A C 394.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=2555.43;QD=41.22;RankSumP=1.00000;SB=-998.15;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.561T>G;refseq.codonCoord_2=187;refseq.end_1=73207432;refseq.end_2=73190638;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=702;refseq.name2_1=CDH23;refseq.name2_2=C10orf54;refseq.name_1=NM_022124;refseq.name_2=NM_022153;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D187E;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=73171695;refseq.start_2=73190638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr10 73191547 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.325A>C;refseq.codonCoord_2=109;refseq.end_1=73207432;refseq.end_2=73191547;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=466;refseq.name2_1=CDH23;refseq.name2_2=C10orf54;refseq.name_1=NM_022124;refseq.name_2=NM_022153;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T109P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-187;refseq.start_1=73171695;refseq.start_2=73191547;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr10 73203183 . A G 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=803.51;QD=29.76;RankSumP=1.00000;SB=-178.76;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.20T>C;refseq.codonCoord_2=7;refseq.end_1=73207432;refseq.end_2=73203183;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=161;refseq.name2_1=CDH23;refseq.name2_2=C10orf54;refseq.name_1=NM_022124;refseq.name_2=NM_022153;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L7P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-63;refseq.start_1=73171695;refseq.start_2=73203183;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr10 73437865 . G A 14.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=117.10;QD=29.28;RankSumP=1.00000;SB=-81.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1070G>A;refseq.codonCoord=357;refseq.end=73437865;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_004273;refseq.name2=CHST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R357Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=930;refseq.start=73437865;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr10 74551957 . G A 234.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=7.02;MQ=98.86;MQ0=0;OQ=8322.60;QD=19.13;RankSumP=0.106468;SB=-2880.19;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.242G>A;refseq.codonCoord=81;refseq.end=74551957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_015901;refseq.name2=NUDT13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G81D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=19;refseq.start=74551957;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr10 74828042 . G T 60 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=9.48982e-08;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.162C>A;refseq.codingCoordStr_2=c.162C>A;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=74828042;refseq.end_2=74828042;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=235;refseq.mrnaCoord_2=235;refseq.name2_1=ANXA7;refseq.name2_2=ANXA7;refseq.name_1=NM_001156;refseq.name_2=NM_004034;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y54*;refseq.proteinCoordStr_2=p.Y54*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=74828042;refseq.start_2=74828042;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr10 74856403 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.470T>G;refseq.codonCoord=157;refseq.end=74856403;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_001024593;refseq.name2=ZMYND17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V157G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-33;refseq.start=74856403;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 75202650 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=1.00667e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.553C>G;refseq.codonCoord=185;refseq.end=75202650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_173540;refseq.name2=FUT11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P185A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-156;refseq.start=75202650;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 75233405 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2075T>C;refseq.codonCoord=692;refseq.end=75233405;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2879;refseq.name=NM_003635;refseq.name2=NDST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L692P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-68;refseq.start=75233405;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 75244880 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.1387A>C;refseq.codingCoordStr_2=c.1483A>C;refseq.codingCoordStr_3=c.1456A>C;refseq.codingCoordStr_4=c.1570A>C;refseq.codingCoordStr_5=c.1414A>C;refseq.codonCoord_1=463;refseq.codonCoord_2=495;refseq.codonCoord_3=486;refseq.codonCoord_4=524;refseq.codonCoord_5=472;refseq.end_1=75244880;refseq.end_2=75244880;refseq.end_3=75244880;refseq.end_4=75244880;refseq.end_5=75244880;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1506;refseq.mrnaCoord_2=1602;refseq.mrnaCoord_3=1580;refseq.mrnaCoord_4=1689;refseq.mrnaCoord_5=1533;refseq.name2_1=CAMK2G;refseq.name2_2=CAMK2G;refseq.name2_3=CAMK2G;refseq.name2_4=CAMK2G;refseq.name2_5=CAMK2G;refseq.name_1=NM_001222;refseq.name_2=NM_172169;refseq.name_3=NM_172170;refseq.name_4=NM_172171;refseq.name_5=NM_172173;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T463P;refseq.proteinCoordStr_2=p.T495P;refseq.proteinCoordStr_3=p.T486P;refseq.proteinCoordStr_4=p.T524P;refseq.proteinCoordStr_5=p.T472P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.spliceDist_3=-114;refseq.spliceDist_4=-114;refseq.spliceDist_5=-114;refseq.start_1=75244880;refseq.start_2=75244880;refseq.start_3=75244880;refseq.start_4=75244880;refseq.start_5=75244880;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr10 75302766 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=2;HaplotypeScore=4.59;MQ=98.97;MQ0=0;OQ=3027.56;QD=13.11;RankSumP=0.0908636;SB=-895.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.147G>A;refseq.codingCoordStr_2=c.147G>A;refseq.codingCoordStr_3=c.147G>A;refseq.codingCoordStr_4=c.147G>A;refseq.codingCoordStr_5=c.147G>A;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.codonCoord_3=49;refseq.codonCoord_4=49;refseq.codonCoord_5=49;refseq.end_1=75302766;refseq.end_2=75302766;refseq.end_3=75302766;refseq.end_4=75302766;refseq.end_5=75302766;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=266;refseq.mrnaCoord_3=271;refseq.mrnaCoord_4=266;refseq.mrnaCoord_5=266;refseq.name2_1=CAMK2G;refseq.name2_2=CAMK2G;refseq.name2_3=CAMK2G;refseq.name2_4=CAMK2G;refseq.name2_5=CAMK2G;refseq.name_1=NM_001222;refseq.name_2=NM_172169;refseq.name_3=NM_172170;refseq.name_4=NM_172171;refseq.name_5=NM_172173;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.K49K;refseq.proteinCoordStr_2=p.K49K;refseq.proteinCoordStr_3=p.K49K;refseq.proteinCoordStr_4=p.K49K;refseq.proteinCoordStr_5=p.K49K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.spliceDist_4=-14;refseq.spliceDist_5=-14;refseq.start_1=75302766;refseq.start_2=75302766;refseq.start_3=75302766;refseq.start_4=75302766;refseq.start_5=75302766;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;set=Intersection GT 0/1 chr10 75341362 . G T 242.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=3.26;MQ=98.84;MQ0=0;OQ=2465.70;QD=16.12;RankSumP=0.373456;SB=-1254.56;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.*87C>A;refseq.codingCoordStr_2=c.-294G>T;refseq.codingCoordStr_3=c.43G>T;refseq.codonCoord_3=15;refseq.end_1=75341362;refseq.end_2=75341362;refseq.end_3=75341362;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=884;refseq.mrnaCoord_2=189;refseq.mrnaCoord_3=189;refseq.name2_1=C10orf55;refseq.name2_2=PLAU;refseq.name2_3=PLAU;refseq.name_1=NM_001001791;refseq.name_2=NM_001145031;refseq.name_3=NM_002658;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V15L;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=498;refseq.spliceDist_2=74;refseq.spliceDist_3=-15;refseq.start_1=75341362;refseq.start_2=75341362;refseq.start_3=75341362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=Intersection GT 0/1 chr10 75343107 . T C 138.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=10.15;MQ=98.76;MQ0=0;OQ=3133.54;QD=14.71;RankSumP=0.199912;SB=-1390.22;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.371T>C;refseq.codingCoordStr_3=c.422T>C;refseq.codonCoord_2=124;refseq.codonCoord_3=141;refseq.end_1=75346272;refseq.end_2=75343107;refseq.end_3=75343107;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=853;refseq.mrnaCoord_3=568;refseq.name2_1=C10orf55;refseq.name2_2=PLAU;refseq.name2_3=PLAU;refseq.name_1=NM_001001791;refseq.name_2=NM_001145031;refseq.name_3=NM_002658;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L124P;refseq.proteinCoordStr_3=p.L141P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=75342850;refseq.start_2=75343107;refseq.start_3=75343107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr10 75535071 . G A 287.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=5.40;MQ=98.69;MQ0=0;OQ=12635.76;QD=41.84;RankSumP=1.00000;SB=-5151.04;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2388G>A;refseq.codingCoordStr_2=c.2388G>A;refseq.codonCoord_1=796;refseq.codonCoord_2=796;refseq.end_1=75535071;refseq.end_2=75535071;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2482;refseq.mrnaCoord_2=2482;refseq.name2_1=VCL;refseq.name2_2=VCL;refseq.name_1=NM_003373;refseq.name_2=NM_014000;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P796P;refseq.proteinCoordStr_2=p.P796P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=75535071;refseq.start_2=75535071;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr10 75538859 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2684A>C;refseq.codingCoordStr_2=c.2684A>C;refseq.codonCoord_1=895;refseq.codonCoord_2=895;refseq.end_1=75538859;refseq.end_2=75538859;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2778;refseq.mrnaCoord_2=2778;refseq.name2_1=VCL;refseq.name2_2=VCL;refseq.name_1=NM_003373;refseq.name_2=NM_014000;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N895T;refseq.proteinCoordStr_2=p.N895T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=75538859;refseq.start_2=75538859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr10 75541741 . C G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=246;Dels=0.00;HRun=2;HaplotypeScore=7.70;MQ=98.67;MQ0=0;OQ=10098.15;QD=41.05;RankSumP=1.00000;SB=-4751.18;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.2814C>G;refseq.codonCoord_2=938;refseq.end_1=75543937;refseq.end_2=75541741;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2908;refseq.name2_1=VCL;refseq.name2_2=VCL;refseq.name_1=NM_003373;refseq.name_2=NM_014000;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G938G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=69;refseq.start_1=75538931;refseq.start_2=75541741;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr10 75544012 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2810T>G;refseq.codingCoordStr_2=c.3014T>G;refseq.codonCoord_1=937;refseq.codonCoord_2=1005;refseq.end_1=75544012;refseq.end_2=75544012;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2904;refseq.mrnaCoord_2=3108;refseq.name2_1=VCL;refseq.name2_2=VCL;refseq.name_1=NM_003373;refseq.name_2=NM_014000;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V937G;refseq.proteinCoordStr_2=p.V1005G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=75544012;refseq.start_2=75544012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr10 76405303 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1202T>G;refseq.codonCoord=401;refseq.end=76405303;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1695;refseq.name=NM_012330;refseq.name2=MYST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V401G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=141;refseq.start=76405303;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr10 76460387 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.5799A>C;refseq.codonCoord=1933;refseq.end=76460387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6292;refseq.name=NM_012330;refseq.name2=MYST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1933S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=2135;refseq.start=76460387;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr10 76460606 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.6018C>A;refseq.codonCoord=2006;refseq.end=76460606;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6511;refseq.name=NM_012330;refseq.name2=MYST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2006*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-2040;refseq.start=76460606;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr10 76460692 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.6104A>C;refseq.codonCoord=2035;refseq.end=76460692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6597;refseq.name=NM_012330;refseq.name2=MYST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2035P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1954;refseq.start=76460692;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr10 76460693 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.6105G>C;refseq.codonCoord=2035;refseq.end=76460693;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6598;refseq.name=NM_012330;refseq.name2=MYST4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2035H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1953;refseq.start=76460693;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr10 76524570 . C T 148.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=98.59;MQ0=0;OQ=2419.26;QD=13.22;RankSumP=0.148160;SB=-1026.29;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.*775G>A;refseq.codingCoordStr_2=c.617G>A;refseq.codingCoordStr_3=c.746G>A;refseq.codingCoordStr_4=c.467G>A;refseq.codonCoord_2=206;refseq.codonCoord_3=249;refseq.codonCoord_4=156;refseq.end_1=76524570;refseq.end_2=76524570;refseq.end_3=76524570;refseq.end_4=76524570;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=672;refseq.mrnaCoord_3=971;refseq.mrnaCoord_4=530;refseq.name2_1=DUSP13;refseq.name2_2=DUSP13;refseq.name2_3=DUSP13;refseq.name2_4=DUSP13;refseq.name_1=NM_001007271;refseq.name_2=NM_001007272;refseq.name_3=NM_001007273;refseq.name_4=NM_016364;refseq.numMatchingRecords=4;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.C206Y;refseq.proteinCoordStr_3=p.C249Y;refseq.proteinCoordStr_4=p.C156Y;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.start_1=76524570;refseq.start_2=76524570;refseq.start_3=76524570;refseq.start_4=76524570;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 0/1 chr10 76525418 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=5.84;MQ=98.79;MQ0=0;OQ=1842.28;QD=9.17;RankSumP=0.134419;SB=-660.70;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.*623C>T;refseq.codingCoordStr_2=c.465C>T;refseq.codingCoordStr_3=c.594C>T;refseq.codingCoordStr_4=c.315C>T;refseq.codonCoord_2=155;refseq.codonCoord_3=198;refseq.codonCoord_4=105;refseq.end_1=76525418;refseq.end_2=76525418;refseq.end_3=76525418;refseq.end_4=76525418;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=520;refseq.mrnaCoord_3=819;refseq.mrnaCoord_4=378;refseq.name2_1=DUSP13;refseq.name2_2=DUSP13;refseq.name2_3=DUSP13;refseq.name2_4=DUSP13;refseq.name_1=NM_001007271;refseq.name_2=NM_001007272;refseq.name_3=NM_001007273;refseq.name_4=NM_016364;refseq.numMatchingRecords=4;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D155D;refseq.proteinCoordStr_3=p.D198D;refseq.proteinCoordStr_4=p.D105D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.spliceDist_3=-80;refseq.spliceDist_4=-80;refseq.start_1=76525418;refseq.start_2=76525418;refseq.start_3=76525418;refseq.start_4=76525418;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/0 chr10 76531686 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=6.49;MQ=97.38;MQ0=0;OQ=1068.24;QD=7.12;RankSumP=0.125350;SB=-221.19;SecondBestBaseQ=17;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.*252A>G;refseq.codingCoordStr_3=c.223A>G;refseq.codonCoord_3=75;refseq.end_1=76538762;refseq.end_2=76531686;refseq.end_3=76531686;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=874;refseq.mrnaCoord_3=448;refseq.name2_1=DUSP13;refseq.name2_2=DUSP13;refseq.name2_3=DUSP13;refseq.name_1=NM_001007272;refseq.name_2=NM_001007271;refseq.name_3=NM_001007273;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S75G;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGC;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=76527660;refseq.start_2=76531686;refseq.start_3=76531686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=Intersection GT 1/0 chr10 76580301 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.9T>G;refseq.codingCoordStr_2=c.9T>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=76580301;refseq.end_2=76580301;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=112;refseq.mrnaCoord_2=168;refseq.name2_1=SAMD8;refseq.name2_2=SAMD8;refseq.name_1=NM_001174156;refseq.name_2=NM_144660;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3G;refseq.proteinCoordStr_2=p.G3G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=76580301;refseq.start_2=76580301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr10 77477033 . T C 139.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=6.52;MQ=99.00;MQ0=0;OQ=6683.04;QD=42.03;RankSumP=1.00000;SB=-747.30;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.280T>C;refseq.codonCoord=94;refseq.end=77477033;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_032024;refseq.name2=C10orf11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L94L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-35;refseq.start=77477033;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr10 78614596 . G A 102.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=2;HaplotypeScore=11.03;MQ=98.71;MQ0=0;OQ=7854.00;QD=19.88;RankSumP=0.234699;SB=-2194.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.687C>T;refseq.codingCoordStr_2=c.687C>T;refseq.codingCoordStr_3=c.687C>T;refseq.codingCoordStr_4=c.687C>T;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.codonCoord_3=229;refseq.codonCoord_4=229;refseq.end_1=78614596;refseq.end_2=78614596;refseq.end_3=78614596;refseq.end_4=78614596;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=864;refseq.mrnaCoord_2=864;refseq.mrnaCoord_3=864;refseq.mrnaCoord_4=864;refseq.name2_1=KCNMA1;refseq.name2_2=KCNMA1;refseq.name2_3=KCNMA1;refseq.name2_4=KCNMA1;refseq.name_1=NM_001014797;refseq.name_2=NM_001161352;refseq.name_3=NM_001161353;refseq.name_4=NM_002247;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F229F;refseq.proteinCoordStr_2=p.F229F;refseq.proteinCoordStr_3=p.F229F;refseq.proteinCoordStr_4=p.F229F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=78614596;refseq.start_2=78614596;refseq.start_3=78614596;refseq.start_4=78614596;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=Intersection GT 1/0 chr10 79236638 . G A 221.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=97.99;MQ0=0;OQ=1112.35;QD=15.24;RankSumP=0.250491;SB=-512.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4851C>T;refseq.codonCoord=1617;refseq.end=79236638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4921;refseq.name=NM_004747;refseq.name2=DLG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1617D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=55;refseq.start=79236638;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr10 79254184 . G C 172.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=5.45;MQ=98.92;MQ0=0;OQ=5511.31;QD=23.65;RankSumP=0.280220;SB=-2385.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2346C>G;refseq.codonCoord=782;refseq.end=79254184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2416;refseq.name=NM_004747;refseq.name2=DLG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R782R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-37;refseq.start=79254184;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr10 79271643 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr10;refseq.codingCoordStr=c.1437+2;refseq.end=79271643;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_004747;refseq.name2=DLG5;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=79271643;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr10 79286611 . T C 137.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.83;MQ0=0;OQ=2298.13;QD=12.84;RankSumP=0.0410834;SB=-1007.82;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.419A>G;refseq.codonCoord=140;refseq.end=79286611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_004747;refseq.name2=DLG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q140R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=46;refseq.start=79286611;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr10 79437490 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2050G>C;refseq.codonCoord=684;refseq.end=79437490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2144;refseq.name=NM_007055;refseq.name2=POLR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A684P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-25;refseq.start=79437490;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 79454894 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.331A>C;refseq.codonCoord=111;refseq.end=79454894;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_007055;refseq.name2=POLR3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T111P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=13;refseq.start=79454894;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 81691702 . T C 371.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=7.73;MQ=98.44;MQ0=0;OQ=5501.23;QD=19.24;RankSumP=0.155643;SB=-1970.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.538A>G;refseq.codonCoord=180;refseq.end=81691702;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_003019;refseq.name2=SFTPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.T180A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-13;refseq.start=81691702;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr10 81692566 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.249A>C;refseq.codonCoord=83;refseq.end=81692566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_003019;refseq.name2=SFTPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P83P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=50;refseq.start=81692566;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 81696304 . A G 355.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=98.80;MQ0=0;OQ=4322.31;QD=18.87;RankSumP=0.0241870;SB=-1388.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.92T>C;refseq.codonCoord=31;refseq.end=81696304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_003019;refseq.name2=SFTPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.M31T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=95;refseq.start=81696304;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr10 81831672 . G T 262.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=4.09;MQ=98.81;MQ0=0;OQ=5074.80;QD=17.38;RankSumP=0.174529;SB=-1244.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.183G>T;refseq.codonCoord=61;refseq.end=81831672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_025125;refseq.name2=C10orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.L61L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=81831672;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr10 81831891 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=576;Dels=0.00;HRun=2;HaplotypeScore=69.90;MQ=97.88;MQ0=0;OQ=71.87;QD=0.12;RankSumP=0.00000;SB=646.17;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.202G>T;refseq.codonCoord=68;refseq.end=81831891;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_025125;refseq.name2=C10orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.A68S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=11;refseq.start=81831891;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr10 81840587 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=509;Dels=0.00;HRun=0;HaplotypeScore=17.78;MQ=98.68;MQ0=0;OQ=8594.81;QD=16.89;RankSumP=0.180996;SB=-3398.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.306C>A;refseq.codonCoord=102;refseq.end=81840587;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_025125;refseq.name2=C10orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.F102L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=55;refseq.start=81840587;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr10 81915846 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=206;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=98.04;MQ0=0;OQ=3868.73;QD=18.78;RankSumP=0.148441;SB=-1298.62;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.832A>G;refseq.codingCoordStr_2=c.832A>G;refseq.codingCoordStr_3=c.832A>G;refseq.codonCoord_1=278;refseq.codonCoord_2=278;refseq.codonCoord_3=278;refseq.end_1=81915846;refseq.end_2=81915846;refseq.end_3=81915846;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1119;refseq.mrnaCoord_3=1315;refseq.name2_1=ANXA11;refseq.name2_2=ANXA11;refseq.name2_3=ANXA11;refseq.name_1=NM_001157;refseq.name_2=NM_145868;refseq.name_3=NM_145869;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I278V;refseq.proteinCoordStr_2=p.I278V;refseq.proteinCoordStr_3=p.I278V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=81915846;refseq.start_2=81915846;refseq.start_3=81915846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/0 chr10 82023574 . G A 307.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.53;MQ0=0;OQ=2551.15;QD=15.94;RankSumP=0.210734;SB=-1262.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=82023574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_000429;refseq.name2=MAT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y377Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=46;refseq.start=82023574;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr10 82024822 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=94.51;MQ0=0;OQ=197.21;QD=6.16;RankSumP=0.158566;SB=-39.65;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.882T>C;refseq.codonCoord=294;refseq.end=82024822;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1137;refseq.name=NM_000429;refseq.name2=MAT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A294A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-70;refseq.start=82024822;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 82024834 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.75;MQ=94.83;MQ0=0;OQ=523.35;QD=12.17;RankSumP=0.316140;SB=-41.92;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.870A>G;refseq.codonCoord=290;refseq.end=82024834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_000429;refseq.name2=MAT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V290V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-82;refseq.start=82024834;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr10 82030032 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=7.80;MQ=98.08;MQ0=0;OQ=1505.00;QD=11.85;RankSumP=0.123656;SB=-686.75;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=82030032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_000429;refseq.name2=MAT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A142A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=21;refseq.start=82030032;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 82112773 . G A 164.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=98.55;MQ0=0;OQ=2612.25;QD=17.77;RankSumP=0.498389;SB=-738.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.234G>A;refseq.codonCoord=78;refseq.end=82112773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_032372;refseq.name2=DYDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E78E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-37;refseq.start=82112773;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr10 82266032 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.345C>G;refseq.codingCoordStr_2=c.714C>G;refseq.codonCoord_1=115;refseq.codonCoord_2=238;refseq.end_1=82266032;refseq.end_2=82266032;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=452;refseq.mrnaCoord_2=821;refseq.name2_1=TSPAN14;refseq.name2_2=TSPAN14;refseq.name_1=NM_001128309;refseq.name_2=NM_030927;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G115G;refseq.proteinCoordStr_2=p.G238G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=82266032;refseq.start_2=82266032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr10 82359199 . T A 193.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=9.54;MQ=98.58;MQ0=0;OQ=4952.29;QD=17.50;RankSumP=0.0605154;SB=-1460.95;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.753T>A;refseq.codingCoordStr_2=c.897T>A;refseq.codonCoord_1=251;refseq.codonCoord_2=299;refseq.end_1=82359199;refseq.end_2=82359199;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=1327;refseq.name2_1=SH2D4B;refseq.name2_2=SH2D4B;refseq.name_1=NM_001145719;refseq.name_2=NM_207372;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D251E;refseq.proteinCoordStr_2=p.D299E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=40;refseq.spliceDist_2=37;refseq.start_1=82359199;refseq.start_2=82359199;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr10 84735236 . C T 171.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.75;MQ0=0;OQ=1776.82;QD=14.10;RankSumP=0.240583;SB=-436.74;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1986C>T;refseq.codingCoordStr_2=c.1983C>T;refseq.codingCoordStr_3=c.1395C>T;refseq.codonCoord_1=662;refseq.codonCoord_2=661;refseq.codonCoord_3=465;refseq.end_1=84735236;refseq.end_2=84735236;refseq.end_3=84735236;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2013;refseq.mrnaCoord_2=2010;refseq.mrnaCoord_3=1669;refseq.name2_1=NRG3;refseq.name2_2=NRG3;refseq.name2_3=NRG3;refseq.name_1=NM_001010848;refseq.name_2=NM_001165972;refseq.name_3=NM_001165973;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S662S;refseq.proteinCoordStr_2=p.S661S;refseq.proteinCoordStr_3=p.S465S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=403;refseq.spliceDist_2=403;refseq.spliceDist_3=403;refseq.start_1=84735236;refseq.start_2=84735236;refseq.start_3=84735236;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr10 85950375 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=14.29;MQ=98.83;MQ0=0;OQ=1600.45;QD=11.04;RankSumP=0.312056;SB=-807.24;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.477A>G;refseq.codingCoordStr_2=c.477A>G;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.end_1=85950375;refseq.end_2=85950375;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=582;refseq.mrnaCoord_2=582;refseq.name2_1=CDHR1;refseq.name2_2=CDHR1;refseq.name_1=NM_001171971;refseq.name_2=NM_033100;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A159A;refseq.proteinCoordStr_2=p.A159A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=85950375;refseq.start_2=85950375;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr10 85962023 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=2;HaplotypeScore=2.26;MQ=98.81;MQ0=0;OQ=2985.93;QD=14.57;RankSumP=0.235270;SB=-920.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1662A>G;refseq.codingCoordStr_2=c.1662A>G;refseq.codonCoord_1=554;refseq.codonCoord_2=554;refseq.end_1=85962023;refseq.end_2=85962023;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1767;refseq.mrnaCoord_2=1767;refseq.name2_1=CDHR1;refseq.name2_2=CDHR1;refseq.name_1=NM_001171971;refseq.name_2=NM_033100;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E554E;refseq.proteinCoordStr_2=p.E554E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=85962023;refseq.start_2=85962023;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr10 85964216 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=6.62;MQ=98.56;MQ0=0;OQ=925.79;QD=12.02;RankSumP=0.495933;SB=-291.34;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.2439T>C;refseq.codonCoord_2=813;refseq.end_1=85968804;refseq.end_2=85964216;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2544;refseq.name2_1=CDHR1;refseq.name2_2=CDHR1;refseq.name_1=NM_001171971;refseq.name_2=NM_033100;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T813T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=399;refseq.start_1=85963095;refseq.start_2=85964216;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr10 85971781 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=4;HaplotypeScore=4.57;MQ=98.53;MQ0=0;OQ=1987.59;QD=14.00;RankSumP=0.0746606;SB=-274.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1528A>C;refseq.codonCoord=510;refseq.end=85971781;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_001017924;refseq.name2=LRIT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T510P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=636;refseq.start=85971781;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr10 85982458 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=1223.92;QD=13.45;RankSumP=0.0590789;SB=-445.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1077A>G;refseq.codonCoord=359;refseq.end=85982458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_015613;refseq.name2=LRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G359G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=182;refseq.start=85982458;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr10 85982491 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.20;MQ=99.00;MQ0=0;OQ=1296.28;QD=10.21;RankSumP=0.0757852;SB=-576.73;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1044A>G;refseq.codonCoord=348;refseq.end=85982491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_015613;refseq.name2=LRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P348P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=149;refseq.start=85982491;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 85983816 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=14.87;MQ=97.16;MQ0=0;OQ=2987.22;QD=23.90;RankSumP=1.00000;SB=-228.07;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.888T>C;refseq.codonCoord=296;refseq.end=85983816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_015613;refseq.name2=LRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N296N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=85983816;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr10 85983890 . G A 119.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.88;MQ0=0;OQ=1533.32;QD=16.49;RankSumP=0.419875;SB=-536.08;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.814C>T;refseq.codonCoord=272;refseq.end=85983890;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_015613;refseq.name2=LRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L272L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-82;refseq.start=85983890;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr10 85987230 . G A 40.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=13;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;QD=4.03;RankSumP=0.0277778;SB=-44.54;SecondBestBaseQ=35;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.315C>T;refseq.codonCoord=105;refseq.end=85987230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_015613;refseq.name2=LRIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G105G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=193;refseq.start=85987230;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr10 87352191 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2849A>C;refseq.codonCoord=950;refseq.end=87352191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2950;refseq.name=NM_017551;refseq.name2=GRID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N950T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=248;refseq.start=87352191;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr10 87888709 . G A 156.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=828.00;QD=15.92;RankSumP=0.393258;SB=-149.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.573C>T;refseq.codonCoord=191;refseq.end=87888709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_017551;refseq.name2=GRID1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D191D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=53;refseq.start=87888709;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr10 88193048 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=1;HaplotypeScore=16.48;MQ=98.83;MQ0=0;OQ=21271.01;QD=38.75;RankSumP=1.00000;SB=-9972.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3375A>G;refseq.codonCoord=1125;refseq.end=88193048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3817;refseq.name=NM_015045;refseq.name2=WAPAL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1125T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-37;refseq.start=88193048;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 88456445 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.16;MQ0=0;OQ=227.60;QD=14.23;RankSumP=0.566919;SB=-47.54;SecondBestBaseQ=27;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.1074C>T;refseq.codonCoord_3=358;refseq.end_1=88459631;refseq.end_2=88459631;refseq.end_3=88456445;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1097;refseq.name2_1=LDB3;refseq.name2_2=LDB3;refseq.name2_3=LDB3;refseq.name_1=NM_001080114;refseq.name_2=NM_001171610;refseq.name_3=NM_007078;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A358A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCC;refseq.spliceDist_3=-12;refseq.start_1=88442319;refseq.start_2=88442319;refseq.start_3=88456445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chr10 88625759 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=81.14;MQ0=10;OQ=2141.44;QD=9.11;RankSumP=0.356877;SB=-252.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4C>A;refseq.codonCoord=2;refseq.end=88625759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_004329;refseq.name2=BMPR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-64;refseq.start=88625759;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr10 88692330 . G C 324.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=96.66;MQ0=0;OQ=1134.90;QD=36.61;RankSumP=1.00000;SB=-136.37;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2191C>G;refseq.codonCoord=731;refseq.end=88692330;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2318;refseq.name=NM_024756;refseq.name2=MMRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H731D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-277;refseq.start=88692330;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr10 88692370 . G A 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=95.96;MQ0=0;OQ=208.22;QD=8.33;RankSumP=0.457932;SB=-115.95;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2151C>T;refseq.codonCoord=717;refseq.end=88692370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2278;refseq.name=NM_024756;refseq.name2=MMRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A717A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-317;refseq.start=88692370;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr10 88693223 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1298T>G;refseq.codonCoord=433;refseq.end=88693223;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1425;refseq.name=NM_024756;refseq.name2=MMRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V433G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=643;refseq.start=88693223;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 88707120 . T A 184.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=2051.11;QD=37.29;RankSumP=1.00000;SB=-958.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.159A>T;refseq.codonCoord=53;refseq.end=88707120;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_024756;refseq.name2=MMRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V53V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=88707120;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr10 88707134 . C T 106.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=757.21;QD=13.52;RankSumP=0.382809;SB=-370.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.145G>A;refseq.codonCoord=49;refseq.end=88707134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_024756;refseq.name2=MMRN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G49S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-20;refseq.start=88707134;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr10 88709769 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=8.54;MQ=98.46;MQ0=0;OQ=1193.36;QD=15.50;RankSumP=0.203968;SB=-410.49;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.195C>G;refseq.codonCoord=65;refseq.end=88709769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_003087;refseq.name2=SNCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=32;refseq.start=88709769;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr10 88712378 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=99.00;MQ0=0;OQ=1531.20;QD=11.18;RankSumP=0.395586;SB=-565.28;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.329A>T;refseq.codonCoord=110;refseq.end=88712378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_003087;refseq.name2=SNCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E110V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-35;refseq.start=88712378;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr10 88720292 . T C 129.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.43;MQ0=0;OQ=1291.65;QD=13.32;RankSumP=0.454914;SB=-238.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.204T>C;refseq.codonCoord=68;refseq.end=88720292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_006829;refseq.name2=C10orf116;refseq.positionType=CDS;refseq.proteinCoordStr=p.I68I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=80;refseq.start=88720292;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr10 88901091 . C A 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.chr=chr10;refseq.codingCoordStr=c.-1C>A;refseq.end=88901091;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=114;refseq.name=NM_019054;refseq.name2=FAM35A;refseq.positionType=utr5;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=88901091;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr10 88920229 . A T 132.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=339;Dels=0.00;HRun=2;HaplotypeScore=7.93;MQ=82.07;MQ0=19;OQ=5567.42;QD=16.42;RankSumP=0.497609;SB=-1854.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1648A>T;refseq.codonCoord=550;refseq.end=88920229;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1762;refseq.name=NM_019054;refseq.name2=FAM35A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S550C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=15;refseq.start=88920229;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr10 88929942 . T C 198.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=48.33;MQ0=71;OQ=1953.10;QD=14.68;RankSumP=1.00000;SB=-333.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2094T>C;refseq.codonCoord=698;refseq.end=88929942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2208;refseq.name=NM_019054;refseq.name2=FAM35A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G698G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-99;refseq.start=88929942;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr10 89110374 rs3117561 A C 11.09 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.69;MQ0=2;QD=3.70;SB=-10.00;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.323A>C;refseq.codonCoord=108;refseq.end=89110374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_001009610;refseq.name2=FAM22D;refseq.positionType=CDS;refseq.proteinCoordStr=p.N108T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=157;refseq.start=89110374;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,3:1:-4.36,-0.30,-0.00:1.76 chr10 89110376 rs2767110 T C 10.28 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=46.50;MQ0=3;QD=2.57;SB=-10.00;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.325T>C;refseq.codonCoord=109;refseq.end=89110376;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_001009610;refseq.name2=FAM22D;refseq.positionType=CDS;refseq.proteinCoordStr=p.F109L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=159;refseq.start=89110376;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,3:1:-4.27,-0.30,-0.00:1.76 chr10 89114885 rs28605659 C T 10.26 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=2.07;MQ0=123;QD=0.08;SB=-10.00;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1463C>T;refseq.codonCoord=488;refseq.end=89114885;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2009;refseq.name=NM_001009610;refseq.name2=FAM22D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P488L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-56;refseq.start=89114885;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:89,35:1:-4.27,-0.30,-0.00:1.76 chr10 89710729 . C T 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.468093;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.900C>T;refseq.codonCoord=300;refseq.end=89710729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_000314;refseq.name2=PTEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I300I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=99;refseq.start=89710729;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 0/1 chr10 89710771 . A G 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.428958;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.942A>G;refseq.codonCoord=314;refseq.end=89710771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1974;refseq.name=NM_000314;refseq.name2=PTEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E314E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-85;refseq.start=89710771;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr10 90332817 . C G 185.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=10.62;MQ=98.53;MQ0=0;OQ=7461.96;QD=43.64;RankSumP=1.00000;SB=-3569.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.111G>C;refseq.codingCoordStr_2=c.111G>C;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=90332817;refseq.end_2=90332817;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=246;refseq.mrnaCoord_2=246;refseq.name2_1=RNLS;refseq.name2_2=RNLS;refseq.name_1=NM_001031709;refseq.name_2=NM_018363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E37D;refseq.proteinCoordStr_2=p.E37D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=90332817;refseq.start_2=90332817;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr10 90346578 . A G 398.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=2720.33;QD=37.78;RankSumP=1.00000;SB=-1288.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.628A>G;refseq.codonCoord=210;refseq.end=90346578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_001010939;refseq.name2=LIPJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I210V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=52;refseq.start=90346578;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr10 90423325 . T A 303.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=14.28;MQ=98.83;MQ0=0;OQ=8221.93;QD=20.76;RankSumP=0.161488;SB=-2681.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.670T>A;refseq.codonCoord=224;refseq.end=90423325;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_004190;refseq.name2=LIPF;refseq.positionType=CDS;refseq.proteinCoordStr=p.F224I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=90423325;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr10 90663004 . G A 145.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=2;HaplotypeScore=6.99;MQ=98.81;MQ0=0;OQ=7610.40;QD=21.32;RankSumP=0.0562675;SB=-1946.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.587G>A;refseq.codonCoord=196;refseq.end=90663004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1010;refseq.name=NM_020799;refseq.name2=STAMBPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S196N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=167;refseq.start=90663004;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr10 90761809 . T C 326.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.96;MQ0=0;OQ=10527.59;QD=42.62;RankSumP=1.00000;SB=-3104.89;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_5=c.642T>C;refseq.codingCoordStr_6=c.579T>C;refseq.codingCoordStr_7=c.642T>C;refseq.codonCoord_5=214;refseq.codonCoord_6=193;refseq.codonCoord_7=214;refseq.end_1=90761809;refseq.end_2=90761809;refseq.end_3=90761809;refseq.end_4=90761809;refseq.end_5=90761809;refseq.end_6=90761809;refseq.end_7=90761809;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=816;refseq.mrnaCoord_2=678;refseq.mrnaCoord_3=741;refseq.mrnaCoord_4=879;refseq.mrnaCoord_5=988;refseq.mrnaCoord_6=925;refseq.mrnaCoord_7=988;refseq.name2_1=FAS;refseq.name2_2=FAS;refseq.name2_3=FAS;refseq.name2_4=FAS;refseq.name2_5=FAS;refseq.name2_6=FAS;refseq.name2_7=FAS;refseq.name_1=NR_028033;refseq.name_2=NR_028034;refseq.name_3=NR_028035;refseq.name_4=NR_028036;refseq.name_5=NM_000043;refseq.name_6=NM_152871;refseq.name_7=NM_152872;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_5=p.T214T;refseq.proteinCoordStr_6=p.T193T;refseq.proteinCoordStr_7=p.T214T;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_5=ACT;refseq.referenceCodon_6=ACT;refseq.referenceCodon_7=ACT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceDist_5=-10;refseq.spliceDist_6=-10;refseq.spliceDist_7=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.spliceInfo_5=splice-donor_-10;refseq.spliceInfo_6=splice-donor_-10;refseq.spliceInfo_7=splice-donor_-10;refseq.start_1=90761809;refseq.start_2=90761809;refseq.start_3=90761809;refseq.start_4=90761809;refseq.start_5=90761809;refseq.start_6=90761809;refseq.start_7=90761809;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=Intersection GT 1/1 chr10 90956373 . G A 147.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=2;HaplotypeScore=4.48;MQ=98.65;MQ0=0;OQ=4776.50;QD=20.41;RankSumP=0.328865;SB=-1560.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=90956373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_003956;refseq.name2=CH25H;refseq.positionType=CDS;refseq.proteinCoordStr=p.N219N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=679;refseq.start=90956373;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr10 90997340 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=333;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.72;MQ0=0;OQ=5035.50;QD=15.12;RankSumP=5.71802e-06;SB=-1635.89;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.46A>C;refseq.codingCoordStr_2=c.46A>C;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=90997340;refseq.end_2=90997340;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=214;refseq.mrnaCoord_2=244;refseq.name2_1=LIPA;refseq.name2_2=LIPA;refseq.name_1=NM_000235;refseq.name_2=NM_001127605;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T16P;refseq.proteinCoordStr_2=p.T16P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=90997340;refseq.start_2=90997340;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=filterInsoap-gatk GT 1/0 chr10 91152477 . A G 407.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=8037.53;QD=41.65;RankSumP=1.00000;SB=-3022.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.465A>G;refseq.codonCoord=155;refseq.end=91152477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_001548;refseq.name2=IFIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K155K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=460;refseq.start=91152477;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr10 91167499 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.563A>G;refseq.codonCoord=188;refseq.end=91167499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_012420;refseq.name2=IFIT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D188G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=558;refseq.start=91167499;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr10 91342946 . G A 111.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=618;Dels=0.00;HRun=0;HaplotypeScore=8.97;MQ=98.75;MQ0=0;OQ=10273.03;QD=16.62;RankSumP=0.289687;SB=-4216.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.747C>T;refseq.codingCoordStr_2=c.1599C>T;refseq.codingCoordStr_3=c.924C>T;refseq.codonCoord_1=249;refseq.codonCoord_2=533;refseq.codonCoord_3=308;refseq.end_1=91342946;refseq.end_2=91342946;refseq.end_3=91342946;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=913;refseq.mrnaCoord_2=1755;refseq.mrnaCoord_3=1090;refseq.name2_1=PANK1;refseq.name2_2=PANK1;refseq.name2_3=PANK1;refseq.name_1=NM_138316;refseq.name_2=NM_148977;refseq.name_3=NM_148978;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C249C;refseq.proteinCoordStr_2=p.C533C;refseq.proteinCoordStr_3=p.C308C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=91342946;refseq.start_2=91342946;refseq.start_3=91342946;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/0 chr10 91458905 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=3.33;MQ=98.64;MQ0=0;OQ=935.87;QD=13.18;RankSumP=0.134565;SB=-161.72;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.149C>G;refseq.codonCoord=50;refseq.end=91458905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=221;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=91458905;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr10 91469191 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=98.25;MQ0=0;OQ=532.61;QD=11.58;RankSumP=0.418940;SB=-236.43;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1470G>T;refseq.codonCoord=490;refseq.end=91469191;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1542;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E490D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=91469191;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr10 91477629 . A T 112.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=98.71;MQ0=0;OQ=1196.96;QD=20.29;RankSumP=0.420223;SB=-608.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2147A>T;refseq.codonCoord=716;refseq.end=91477629;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2219;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N716I;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=91477629;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr10 91478959 . A T 134.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1807.31;QD=16.58;RankSumP=0.464509;SB=-723.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2246A>T;refseq.codonCoord=749;refseq.end=91478959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2318;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H749L;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-26;refseq.start=91478959;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr10 91488107 . T C 325.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=7883.81;QD=38.84;RankSumP=1.00000;SB=-3749.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3409T>C;refseq.codonCoord=1137;refseq.end=91488107;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3481;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1137R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-248;refseq.start=91488107;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr10 91512528 . A G 234.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=98.69;MQ0=0;OQ=2964.40;QD=18.08;RankSumP=0.0336594;SB=-1240.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4825A>G;refseq.codonCoord=1609;refseq.end=91512528;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4897;refseq.name=NM_016195;refseq.name2=KIF20B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1609E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-45;refseq.start=91512528;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr10 93598122 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=98.04;MQ0=0;OQ=2475.31;QD=10.67;RankSumP=0.00960414;SB=-433.33;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2361G>A;refseq.codonCoord=787;refseq.end=93598122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2658;refseq.name=NM_025235;refseq.name2=TNKS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A787A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=93598122;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr10 93831207 . A G 429.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.84;MQ0=0;OQ=6229.28;QD=37.08;RankSumP=1.00000;SB=-2644.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1719T>C;refseq.codonCoord=573;refseq.end=93831207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1892;refseq.name=NM_014912;refseq.name2=CPEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y573Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=32;refseq.start=93831207;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr10 93860819 . G T 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=104;Dels=0.00;HRun=2;HaplotypeScore=11.52;MQ=98.60;MQ0=0;OQ=57.90;QD=0.56;RankSumP=0.00000;SB=134.47;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1566C>A;refseq.codonCoord=522;refseq.end=93860819;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1739;refseq.name=NM_014912;refseq.name2=CPEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D522E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=93860819;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr10 93989830 . A G 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=9;Dels=0.00;HRun=2;HaplotypeScore=3.33;MQ=90.30;MQ0=0;OQ=104.10;QD=11.57;RankSumP=0.457143;SB=-48.95;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.258T>C;refseq.codonCoord=86;refseq.end=93989830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_014912;refseq.name2=CPEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P86P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=269;refseq.start=93989830;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr10 94584545 . G A 307.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.71;MQ0=0;OQ=13630.88;QD=40.81;RankSumP=1.00000;SB=-5649.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.70G>A;refseq.codonCoord=24;refseq.end=94584545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_001013848;refseq.name2=EXOC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V24I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-17;refseq.start=94584545;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr10 94685597 . C T 316.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=6114.41;QD=42.17;RankSumP=1.00000;SB=-2526.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1172C>T;refseq.codingCoordStr_2=c.1187C>T;refseq.codonCoord_1=391;refseq.codonCoord_2=396;refseq.end_1=94685597;refseq.end_2=94685597;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1198;refseq.mrnaCoord_2=1253;refseq.name2_1=EXOC6;refseq.name2_2=EXOC6;refseq.name_1=NM_001013848;refseq.name_2=NM_019053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T391I;refseq.proteinCoordStr_2=p.T396I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=94685597;refseq.start_2=94685597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr10 94812676 . C T 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=212;Dels=0.00;HRun=2;HaplotypeScore=12.06;MQ=98.70;MQ0=0;OQ=6680.94;QD=31.51;RankSumP=1.00000;SB=-3036.46;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.639C>T;refseq.codonCoord=213;refseq.end=94812676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_183374;refseq.name2=CYP26C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T213T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-67;refseq.start=94812676;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr10 95062896 . T C 264.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=6.53;MQ=98.75;MQ0=0;OQ=5661.64;QD=19.59;RankSumP=0.467618;SB=-2036.93;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.5760A>G;refseq.codingCoordStr_2=c.5721A>G;refseq.codonCoord_1=1920;refseq.codonCoord_2=1907;refseq.end_1=95062896;refseq.end_2=95062896;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5883;refseq.mrnaCoord_2=5844;refseq.name2_1=MYOF;refseq.name2_2=MYOF;refseq.name_1=NM_013451;refseq.name_2=NM_133337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1920R;refseq.proteinCoordStr_2=p.R1907R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=95062896;refseq.start_2=95062896;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr10 95129608 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2001+2;refseq.codingCoordStr_2=c.1962+2;refseq.end_1=95129608;refseq.end_2=95129608;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MYOF;refseq.name2_2=MYOF;refseq.name_1=NM_013451;refseq.name_2=NM_133337;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=95129608;refseq.start_2=95129608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr10 95252971 . A G 303.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.82;MQ0=0;OQ=12728.91;QD=38.34;RankSumP=1.00000;SB=-5373.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.295A>G;refseq.codingCoordStr_2=c.295A>G;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=95252971;refseq.end_2=95252971;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=477;refseq.mrnaCoord_2=599;refseq.name2_1=CEP55;refseq.name2_2=CEP55;refseq.name_1=NM_001127182;refseq.name_2=NM_018131;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T99A;refseq.proteinCoordStr_2=p.T99A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.start_1=95252971;refseq.start_2=95252971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr10 95269496 . A T 315.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.91;MQ0=0;OQ=8048.22;QD=41.49;RankSumP=1.00000;SB=-3954.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1133A>T;refseq.codingCoordStr_2=c.1133A>T;refseq.codonCoord_1=378;refseq.codonCoord_2=378;refseq.end_1=95269496;refseq.end_2=95269496;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1315;refseq.mrnaCoord_2=1437;refseq.name2_1=CEP55;refseq.name2_2=CEP55;refseq.name_1=NM_001127182;refseq.name_2=NM_018131;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H378L;refseq.proteinCoordStr_2=p.H378L;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=95269496;refseq.start_2=95269496;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr10 95371763 . T A 107.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=11.88;MQ=98.99;MQ0=0;OQ=15020.04;QD=40.82;RankSumP=1.00000;SB=-5411.96;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.808T>A;refseq.codonCoord=270;refseq.end=95371763;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_006204;refseq.name2=PDE6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S270T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-57;refseq.start=95371763;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr10 95379031 . G A 112.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=491;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.69;MQ0=0;OQ=21268.58;QD=43.32;RankSumP=1.00000;SB=-10202.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1098G>A;refseq.codonCoord=366;refseq.end=95379031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1236;refseq.name=NM_006204;refseq.name2=PDE6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A366A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-22;refseq.start=95379031;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 95384596 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1211C>A;refseq.codonCoord=404;refseq.end=95384596;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_006204;refseq.name2=PDE6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T404K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-59;refseq.start=95384596;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr10 95385354 . C G 346.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.43;MQ0=0;OQ=6968.24;QD=45.25;RankSumP=1.00000;SB=-2717.24;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1380C>G;refseq.codonCoord=460;refseq.end=95385354;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_006204;refseq.name2=PDE6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T460T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-34;refseq.start=95385354;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 95444671 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.29;MQ0=0;OQ=1446.97;QD=26.31;RankSumP=0.750000;SB=-304.12;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.233C>G;refseq.codonCoord=78;refseq.end=95444671;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_145246;refseq.name2=C10orf4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T78R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=14;refseq.start=95444671;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr10 95448131 . A G 197.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=13.99;MQ=99.00;MQ0=0;OQ=4130.01;QD=20.15;RankSumP=0.164199;SB=-785.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.90T>C;refseq.codonCoord=30;refseq.end=95448131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_145246;refseq.name2=C10orf4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D30D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=13;refseq.start=95448131;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr10 95449807 . C T 461.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.57;MQ0=0;OQ=6501.65;QD=40.38;RankSumP=1.00000;SB=-1900.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.47G>A;refseq.codonCoord=16;refseq.end=95449807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_145246;refseq.name2=C10orf4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R16H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-31;refseq.start=95449807;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr10 95542643 . T C 450.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=98.63;MQ0=0;OQ=7633.98;QD=38.56;RankSumP=1.00000;SB=-2794.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.657T>C;refseq.codonCoord=219;refseq.end=95542643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_005097;refseq.name2=LGI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F219F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-17;refseq.start=95542643;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr10 96029588 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3801A>C;refseq.codingCoordStr_2=c.4725A>C;refseq.codonCoord_1=1267;refseq.codonCoord_2=1575;refseq.end_1=96029588;refseq.end_2=96029588;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3823;refseq.mrnaCoord_2=5359;refseq.name2_1=PLCE1;refseq.name2_2=PLCE1;refseq.name_1=NM_001165979;refseq.name_2=NM_016341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1267R;refseq.proteinCoordStr_2=p.R1575R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=96029588;refseq.start_2=96029588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT 0/1 chr10 96094655 . T G 167.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=98.35;MQ0=0;OQ=2367.69;QD=13.23;RankSumP=0.479948;SB=-966.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1415A>C;refseq.codonCoord=472;refseq.end=96094655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1503;refseq.name=NM_022451;refseq.name2=NOC3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E472A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=26;refseq.start=96094655;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr10 96104825 . G A 202.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=3.59;MQ=98.81;MQ0=0;OQ=6966.71;QD=19.90;RankSumP=0.251343;SB=-2515.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.581C>T;refseq.codonCoord=194;refseq.end=96104825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_022451;refseq.name2=NOC3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P194L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=16;refseq.start=96104825;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr10 96152937 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.266667;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.577T>G;refseq.codonCoord=193;refseq.end=96152937;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_015188;refseq.name2=TBC1D12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S193A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-395;refseq.start=96152937;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr10 96153029 . C G 14.78 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=14.78;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.669C>G;refseq.codonCoord=223;refseq.end=96153029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_015188;refseq.name2=TBC1D12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P223P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-303;refseq.start=96153029;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr10 96303950 . A C 182.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.91;MQ0=0;OQ=1762.85;QD=14.81;RankSumP=0.342362;SB=-280.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.231A>C;refseq.codonCoord=77;refseq.end=96303950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_018063;refseq.name2=HELLS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I77I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-46;refseq.start=96303950;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr10 96483048 . C T 343.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.93;MQ0=0;OQ=7289.24;QD=18.64;RankSumP=0.404327;SB=-1921.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1154C>T;refseq.codingCoordStr_2=c.977C>T;refseq.codonCoord_1=385;refseq.codonCoord_2=326;refseq.end_1=96483048;refseq.end_2=96483048;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1480;refseq.mrnaCoord_2=1303;refseq.name2_1=CYP2C18;refseq.name2_2=CYP2C18;refseq.name_1=NM_000772;refseq.name_2=NM_001128925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T385M;refseq.proteinCoordStr_2=p.T326M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=96483048;refseq.start_2=96483048;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr10 96531606 . G A 148.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.30;MQ0=0;OQ=642.72;QD=16.91;RankSumP=0.298661;SB=-37.50;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.681G>A;refseq.codonCoord=227;refseq.end=96531606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_000769;refseq.name2=CYP2C19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P227P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=39;refseq.start=96531606;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr10 96592612 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=746;Dels=0.00;HRun=1;HaplotypeScore=22.93;MQ=97.72;MQ0=0;OQ=16106.89;QD=21.59;RankSumP=0.00393392;SB=-5618.80;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.990C>T;refseq.codonCoord=330;refseq.end=96592612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_000769;refseq.name2=CYP2C19;refseq.positionType=CDS;refseq.proteinCoordStr=p.V330V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=29;refseq.start=96592612;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 0/1 chr10 96692037 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=729;Dels=0.00;HRun=0;HaplotypeScore=14.21;MQ=67.08;MQ0=337;OQ=6976.81;QD=9.57;RankSumP=0.293253;SB=-1215.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.430C>T;refseq.codonCoord=144;refseq.end=96692037;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_000771;refseq.name2=CYP2C9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R144C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-52;refseq.start=96692037;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr10 96788739 . T C 347.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=10.86;MQ=98.60;MQ0=0;OQ=4446.09;QD=19.76;RankSumP=0.379944;SB=-1836.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1196A>G;refseq.codonCoord=399;refseq.end=96788739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1291;refseq.name=NM_000770;refseq.name2=CYP2C8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K399R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=47;refseq.start=96788739;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr10 96817020 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=643;Dels=0.00;HRun=1;HaplotypeScore=9.85;MQ=96.52;MQ0=2;OQ=12394.95;QD=19.28;RankSumP=0.246282;SB=-3066.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.416G>A;refseq.codonCoord=139;refseq.end=96817020;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_000770;refseq.name2=CYP2C8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R139K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-66;refseq.start=96817020;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 96987810 . A G 222.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.91;MQ0=0;OQ=2729.37;QD=14.75;RankSumP=0.0991828;SB=-902.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=96987810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=961;refseq.name=NM_020992;refseq.name2=PDLIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y284Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=49;refseq.start=96987810;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr10 97096155 . T C 304.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.77;MQ0=0;OQ=4345.36;QD=21.20;RankSumP=0.0928424;SB=-1333.02;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.2427A>G;refseq.codingCoordStr_2=c.2493A>G;refseq.codingCoordStr_3=c.1980A>G;refseq.codingCoordStr_4=c.1545A>G;refseq.codingCoordStr_5=c.1377A>G;refseq.codingCoordStr_6=c.1773A>G;refseq.codingCoordStr_7=c.1668A>G;refseq.codonCoord_1=809;refseq.codonCoord_2=831;refseq.codonCoord_3=660;refseq.codonCoord_4=515;refseq.codonCoord_5=459;refseq.codonCoord_6=591;refseq.codonCoord_7=556;refseq.end_1=97096155;refseq.end_2=97096155;refseq.end_3=97096155;refseq.end_4=97096155;refseq.end_5=97096155;refseq.end_6=97096155;refseq.end_7=97096155;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=2472;refseq.mrnaCoord_2=2538;refseq.mrnaCoord_3=2025;refseq.mrnaCoord_4=1590;refseq.mrnaCoord_5=1422;refseq.mrnaCoord_6=1999;refseq.mrnaCoord_7=1894;refseq.name2_1=SORBS1;refseq.name2_2=SORBS1;refseq.name2_3=SORBS1;refseq.name2_4=SORBS1;refseq.name2_5=SORBS1;refseq.name2_6=SORBS1;refseq.name2_7=SORBS1;refseq.name_1=NM_001034954;refseq.name_2=NM_001034955;refseq.name_3=NM_001034956;refseq.name_4=NM_001034957;refseq.name_5=NM_006434;refseq.name_6=NM_015385;refseq.name_7=NM_024991;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L809L;refseq.proteinCoordStr_2=p.L831L;refseq.proteinCoordStr_3=p.L660L;refseq.proteinCoordStr_4=p.L515L;refseq.proteinCoordStr_5=p.L459L;refseq.proteinCoordStr_6=p.L591L;refseq.proteinCoordStr_7=p.L556L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.referenceCodon_5=CTA;refseq.referenceCodon_6=CTA;refseq.referenceCodon_7=CTA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceDist_4=-3;refseq.spliceDist_5=-3;refseq.spliceDist_6=-3;refseq.spliceDist_7=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.spliceInfo_4=splice-donor_-3;refseq.spliceInfo_5=splice-donor_-3;refseq.spliceInfo_6=splice-donor_-3;refseq.spliceInfo_7=splice-donor_-3;refseq.start_1=97096155;refseq.start_2=97096155;refseq.start_3=97096155;refseq.start_4=97096155;refseq.start_5=97096155;refseq.start_6=97096155;refseq.start_7=97096155;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;refseq.variantCodon_7=CTG;set=Intersection GT 1/0 chr10 97164259 . C T 169.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=414.30;QD=19.73;RankSumP=0.668599;SB=-227.90;SecondBestBaseQ=30;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_4=c.792G>A;refseq.codingCoordStr_5=c.792G>A;refseq.codingCoordStr_6=c.585G>A;refseq.codingCoordStr_7=c.696G>A;refseq.codonCoord_4=264;refseq.codonCoord_5=264;refseq.codonCoord_6=195;refseq.codonCoord_7=232;refseq.end_1=97171697;refseq.end_2=97171697;refseq.end_3=97171697;refseq.end_4=97164259;refseq.end_5=97164259;refseq.end_6=97164259;refseq.end_7=97164259;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=837;refseq.mrnaCoord_5=837;refseq.mrnaCoord_6=630;refseq.mrnaCoord_7=922;refseq.name2_1=SORBS1;refseq.name2_2=SORBS1;refseq.name2_3=SORBS1;refseq.name2_4=SORBS1;refseq.name2_5=SORBS1;refseq.name2_6=SORBS1;refseq.name2_7=SORBS1;refseq.name_1=NM_001034957;refseq.name_2=NM_006434;refseq.name_3=NM_024991;refseq.name_4=NM_001034954;refseq.name_5=NM_001034955;refseq.name_6=NM_001034956;refseq.name_7=NM_015385;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.T264T;refseq.proteinCoordStr_5=p.T264T;refseq.proteinCoordStr_6=p.T195T;refseq.proteinCoordStr_7=p.T232T;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.spliceDist_4=-19;refseq.spliceDist_5=-19;refseq.spliceDist_6=-19;refseq.spliceDist_7=-19;refseq.start_1=97160535;refseq.start_2=97160535;refseq.start_3=97160535;refseq.start_4=97164259;refseq.start_5=97164259;refseq.start_6=97164259;refseq.start_7=97164259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;set=Intersection GT 0/1 chr10 97182314 . A G 358.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=98.95;MQ0=0;OQ=8600.02;QD=40.95;RankSumP=1.00000;SB=-3311.97;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.182T>C;refseq.codingCoordStr_2=c.182T>C;refseq.codingCoordStr_3=c.182T>C;refseq.codingCoordStr_4=c.86T>C;refseq.codingCoordStr_5=c.86T>C;refseq.codingCoordStr_6=c.86T>C;refseq.codingCoordStr_7=c.182T>C;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.codonCoord_3=61;refseq.codonCoord_4=29;refseq.codonCoord_5=29;refseq.codonCoord_6=29;refseq.codonCoord_7=61;refseq.end_1=97182314;refseq.end_2=97182314;refseq.end_3=97182314;refseq.end_4=97182314;refseq.end_5=97182314;refseq.end_6=97182314;refseq.end_7=97182314;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=227;refseq.mrnaCoord_2=227;refseq.mrnaCoord_3=227;refseq.mrnaCoord_4=131;refseq.mrnaCoord_5=131;refseq.mrnaCoord_6=312;refseq.mrnaCoord_7=408;refseq.name2_1=SORBS1;refseq.name2_2=SORBS1;refseq.name2_3=SORBS1;refseq.name2_4=SORBS1;refseq.name2_5=SORBS1;refseq.name2_6=SORBS1;refseq.name2_7=SORBS1;refseq.name_1=NM_001034954;refseq.name_2=NM_001034955;refseq.name_3=NM_001034956;refseq.name_4=NM_001034957;refseq.name_5=NM_006434;refseq.name_6=NM_015385;refseq.name_7=NM_024991;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L61P;refseq.proteinCoordStr_2=p.L61P;refseq.proteinCoordStr_3=p.L61P;refseq.proteinCoordStr_4=p.L29P;refseq.proteinCoordStr_5=p.L29P;refseq.proteinCoordStr_6=p.L29P;refseq.proteinCoordStr_7=p.L61P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=CTT;refseq.referenceCodon_5=CTT;refseq.referenceCodon_6=CTT;refseq.referenceCodon_7=CTT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceDist_5=10;refseq.spliceDist_6=10;refseq.spliceDist_7=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.spliceInfo_5=splice-acceptor_10;refseq.spliceInfo_6=splice-acceptor_10;refseq.spliceInfo_7=splice-acceptor_10;refseq.start_1=97182314;refseq.start_2=97182314;refseq.start_3=97182314;refseq.start_4=97182314;refseq.start_5=97182314;refseq.start_6=97182314;refseq.start_7=97182314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_5=CCT;refseq.variantCodon_6=CCT;refseq.variantCodon_7=CCT;set=Intersection GT 1/1 chr10 97382750 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.758T>G;refseq.codingCoordStr_2=c.764T>G;refseq.codonCoord_1=253;refseq.codonCoord_2=255;refseq.end_1=97382750;refseq.end_2=97382750;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=1006;refseq.name2_1=ALDH18A1;refseq.name2_2=ALDH18A1;refseq.name_1=NM_001017423;refseq.name_2=NM_002860;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V253G;refseq.proteinCoordStr_2=p.V255G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=97382750;refseq.start_2=97382750;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr10 97437363 . A T 209.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=98.90;MQ0=0;OQ=2850.70;QD=20.08;RankSumP=0.434487;SB=-1146.06;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.603T>A;refseq.codonCoord_2=201;refseq.end_1=97442656;refseq.end_2=97437363;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=847;refseq.name2_1=TCTN3;refseq.name2_2=TCTN3;refseq.name_1=NM_001143973;refseq.name_2=NM_015631;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T201T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=-25;refseq.start_1=97436917;refseq.start_2=97437363;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr10 97594347 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_1=c.559A>G;refseq.codingCoordStr_2=c.574A>G;refseq.codingCoordStr_3=c.538A>G;refseq.codingCoordStr_4=c.214A>G;refseq.codingCoordStr_5=c.124A>G;refseq.codingCoordStr_6=c.124A>G;refseq.codingCoordStr_7=c.538A>G;refseq.codonCoord_1=187;refseq.codonCoord_2=192;refseq.codonCoord_3=180;refseq.codonCoord_4=72;refseq.codonCoord_5=42;refseq.codonCoord_6=42;refseq.codonCoord_7=180;refseq.end_1=97594347;refseq.end_2=97594347;refseq.end_3=97594347;refseq.end_4=97594347;refseq.end_5=97594347;refseq.end_6=97594347;refseq.end_7=97594347;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=737;refseq.mrnaCoord_2=637;refseq.mrnaCoord_3=862;refseq.mrnaCoord_4=509;refseq.mrnaCoord_5=711;refseq.mrnaCoord_6=593;refseq.mrnaCoord_7=862;refseq.name2_1=ENTPD1;refseq.name2_2=ENTPD1;refseq.name2_3=ENTPD1;refseq.name2_4=ENTPD1;refseq.name2_5=ENTPD1;refseq.name2_6=ENTPD1;refseq.name2_7=ENTPD1;refseq.name_1=NM_001098175;refseq.name_2=NM_001164178;refseq.name_3=NM_001164179;refseq.name_4=NM_001164181;refseq.name_5=NM_001164182;refseq.name_6=NM_001164183;refseq.name_7=NM_001776;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.I187V;refseq.proteinCoordStr_2=p.I192V;refseq.proteinCoordStr_3=p.I180V;refseq.proteinCoordStr_4=p.I72V;refseq.proteinCoordStr_5=p.I42V;refseq.proteinCoordStr_6=p.I42V;refseq.proteinCoordStr_7=p.I180V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.referenceCodon_7=ATT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.spliceDist_6=-36;refseq.spliceDist_7=-36;refseq.start_1=97594347;refseq.start_2=97594347;refseq.start_3=97594347;refseq.start_4=97594347;refseq.start_5=97594347;refseq.start_6=97594347;refseq.start_7=97594347;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=FilteredInAll GT 0/1 chr10 97806470 . C A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.443556;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.303C>A;refseq.codingCoordStr_2=c.303C>A;refseq.codingCoordStr_3=c.303C>A;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.codonCoord_3=101;refseq.end_1=97806470;refseq.end_2=97806470;refseq.end_3=97806470;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=662;refseq.mrnaCoord_2=662;refseq.mrnaCoord_3=662;refseq.name2_1=CCNJ;refseq.name2_2=CCNJ;refseq.name2_3=CCNJ;refseq.name_1=NM_001134375;refseq.name_2=NM_001134376;refseq.name_3=NM_019084;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D101E;refseq.proteinCoordStr_2=p.D101E;refseq.proteinCoordStr_3=p.D101E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=97806470;refseq.start_2=97806470;refseq.start_3=97806470;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 1/0 chr10 97806477 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.345424;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.310C>T;refseq.codingCoordStr_2=c.310C>T;refseq.codingCoordStr_3=c.310C>T;refseq.codonCoord_1=104;refseq.codonCoord_2=104;refseq.codonCoord_3=104;refseq.end_1=97806477;refseq.end_2=97806477;refseq.end_3=97806477;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=669;refseq.mrnaCoord_3=669;refseq.name2_1=CCNJ;refseq.name2_2=CCNJ;refseq.name2_3=CCNJ;refseq.name_1=NM_001134375;refseq.name_2=NM_001134376;refseq.name_3=NM_019084;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P104S;refseq.proteinCoordStr_2=p.P104S;refseq.proteinCoordStr_3=p.P104S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=97806477;refseq.start_2=97806477;refseq.start_3=97806477;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=FilteredInAll GT 0/1 chr10 97806592 . T C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.194428;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.425T>C;refseq.codingCoordStr_2=c.425T>C;refseq.codingCoordStr_3=c.425T>C;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.codonCoord_3=142;refseq.end_1=97806592;refseq.end_2=97806592;refseq.end_3=97806592;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=784;refseq.mrnaCoord_3=784;refseq.name2_1=CCNJ;refseq.name2_2=CCNJ;refseq.name2_3=CCNJ;refseq.name_1=NM_001134375;refseq.name_2=NM_001134376;refseq.name_3=NM_019084;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L142P;refseq.proteinCoordStr_2=p.L142P;refseq.proteinCoordStr_3=p.L142P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.spliceDist_3=145;refseq.start_1=97806592;refseq.start_2=97806592;refseq.start_3=97806592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=soap GT 1/0 chr10 97980573 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.26;MQ0=0;OQ=4956.62;QD=36.18;RankSumP=1.00000;SB=-2305.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.171T>C;refseq.codingCoordStr_2=c.171T>C;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=97980573;refseq.end_2=97980573;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=349;refseq.mrnaCoord_2=349;refseq.name2_1=BLNK;refseq.name2_2=BLNK;refseq.name_1=NM_001114094;refseq.name_2=NM_013314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P57P;refseq.proteinCoordStr_2=p.P57P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=97980573;refseq.start_2=97980573;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr10 98068117 . C T 222.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1382.26;QD=41.89;RankSumP=1.00000;SB=-319.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.222C>T;refseq.codingCoordStr_2=c.222C>T;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=98068117;refseq.end_2=98068117;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=392;refseq.mrnaCoord_2=392;refseq.name2_1=DNTT;refseq.name2_2=DNTT;refseq.name_1=NM_001017520;refseq.name_2=NM_004088;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I74I;refseq.proteinCoordStr_2=p.I74I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=98068117;refseq.start_2=98068117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr10 98068229 . A G 358.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=3.62;MQ=98.82;MQ0=0;OQ=6458.34;QD=40.11;RankSumP=1.00000;SB=-2794.43;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.334A>G;refseq.codingCoordStr_2=c.334A>G;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.end_1=98068229;refseq.end_2=98068229;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=504;refseq.name2_1=DNTT;refseq.name2_2=DNTT;refseq.name_1=NM_001017520;refseq.name_2=NM_004088;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R112G;refseq.proteinCoordStr_2=p.R112G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=98068229;refseq.start_2=98068229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr10 98128807 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2227T>G;refseq.codonCoord=743;refseq.end=98128807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2453;refseq.name=NM_012465;refseq.name2=TLL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C743G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=33;refseq.start=98128807;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr10 98135949 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1866T>G;refseq.codonCoord=622;refseq.end=98135949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2092;refseq.name=NM_012465;refseq.name2=TLL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G622G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=14;refseq.start=98135949;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 98277782 . G T 339.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=7.41;MQ=98.85;MQ0=0;OQ=6800.25;QD=20.48;RankSumP=0.259192;SB=-1460.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1537C>A;refseq.codonCoord=513;refseq.end=98277782;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1754;refseq.name=NM_020123;refseq.name2=TM9SF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R513R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=98277782;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr10 98359526 . A G 352.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.69;MQ0=0;OQ=4229.13;QD=19.40;RankSumP=0.00986993;SB=-1399.53;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2103T>C;refseq.codonCoord=701;refseq.end=98359526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2231;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S701S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-68;refseq.start=98359526;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 0/1 chr10 98370127 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=10.83;MQ=96.74;MQ0=0;OQ=2157.66;QD=12.84;RankSumP=0.0909138;SB=-70.85;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1913A>G;refseq.codonCoord=638;refseq.end=98370127;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2041;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K638R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-29;refseq.start=98370127;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr10 98370163 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1877T>G;refseq.codonCoord=626;refseq.end=98370163;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2005;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V626G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-65;refseq.start=98370163;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 98370267 . C T 125.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=2145.98;QD=20.25;RankSumP=0.192737;SB=-876.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1773G>A;refseq.codonCoord=591;refseq.end=98370267;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1901;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S591S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=38;refseq.start=98370267;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr10 98376548 . G A 114.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=1;HaplotypeScore=10.94;MQ=98.88;MQ0=0;OQ=13409.14;QD=42.43;RankSumP=1.00000;SB=-5213.06;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1576C>T;refseq.codonCoord=526;refseq.end=98376548;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L526L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-94;refseq.start=98376548;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr10 98459683 . C T 142.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=8.90;MQ=98.93;MQ0=0;OQ=2927.38;QD=15.49;RankSumP=0.366336;SB=-895.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.61G>A;refseq.codonCoord=21;refseq.end=98459683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_152309;refseq.name2=PIK3AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E21K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=48;refseq.start=98459683;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 98752585 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4020A>C;refseq.codonCoord=1340;refseq.end=98752585;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4272;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1340D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-135;refseq.start=98752585;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr10 98760765 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3316T>C;refseq.codonCoord=1106;refseq.end=98760765;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3568;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1106P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-26;refseq.start=98760765;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 98763793 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3082A>C;refseq.codonCoord=1028;refseq.end=98763793;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3334;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1028P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-28;refseq.start=98763793;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 98768786 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2815A>C;refseq.codonCoord=939;refseq.end=98768786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3067;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T939P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-57;refseq.start=98768786;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 98768788 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2813G>C;refseq.codonCoord=938;refseq.end=98768788;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3065;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G938A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-59;refseq.start=98768788;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 98798856 . C G 143.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.98;MQ0=0;OQ=3770.25;QD=46.55;RankSumP=1.00000;SB=-1505.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1311G>C;refseq.codonCoord=437;refseq.end=98798856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1563;refseq.name=NM_003061;refseq.name2=SLIT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A437A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=98798856;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr10 99009167 . A G 317.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=589;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=98.84;MQ0=0;OQ=10079.17;QD=17.11;RankSumP=0.151342;SB=-2438.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.822T>C;refseq.codonCoord=274;refseq.end=99009167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_032900;refseq.name2=ARHGAP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.H274H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-19;refseq.start=99009167;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr10 99106893 . C T 304.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=7.37;MQ=98.79;MQ0=0;OQ=7383.18;QD=21.72;RankSumP=0.323455;SB=-3128.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3659G>A;refseq.codingCoordStr_2=c.3842G>A;refseq.codonCoord_1=1220;refseq.codonCoord_2=1281;refseq.end_1=99106893;refseq.end_2=99106893;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3798;refseq.mrnaCoord_2=3981;refseq.name2_1=RRP12;refseq.name2_2=RRP12;refseq.name_1=NM_001145114;refseq.name_2=NM_015179;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1220Q;refseq.proteinCoordStr_2=p.R1281Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=99106893;refseq.start_2=99106893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr10 99115939 . C T 314.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.45;MQ0=0;OQ=2018.58;QD=17.55;RankSumP=0.413650;SB=-926.25;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3250G>A;refseq.codingCoordStr_2=c.3433G>A;refseq.codonCoord_1=1084;refseq.codonCoord_2=1145;refseq.end_1=99115939;refseq.end_2=99115939;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3389;refseq.mrnaCoord_2=3572;refseq.name2_1=RRP12;refseq.name2_2=RRP12;refseq.name_1=NM_001145114;refseq.name_2=NM_015179;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1084S;refseq.proteinCoordStr_2=p.G1145S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=99115939;refseq.start_2=99115939;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr10 99150955 . A G 157.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=2;HaplotypeScore=4.95;MQ=98.55;MQ0=0;OQ=6017.04;QD=17.70;RankSumP=0.263909;SB=-1544.22;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.24T>C;refseq.codingCoordStr_2=c.24T>C;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=99150955;refseq.end_2=99150955;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=163;refseq.mrnaCoord_2=163;refseq.name2_1=RRP12;refseq.name2_2=RRP12;refseq.name_1=NM_001145114;refseq.name_2=NM_015179;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P8P;refseq.proteinCoordStr_2=p.P8P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-116;refseq.spliceDist_2=-116;refseq.start_1=99150955;refseq.start_2=99150955;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr10 99201637 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_1=c.215T>G;refseq.codingCoordStr_2=c.215T>G;refseq.codingCoordStr_3=c.215T>G;refseq.codingCoordStr_4=c.215T>G;refseq.codingCoordStr_5=c.215T>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=72;refseq.codonCoord_5=72;refseq.end_1=99201637;refseq.end_2=99201637;refseq.end_3=99201637;refseq.end_4=99201637;refseq.end_5=99201637;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=401;refseq.mrnaCoord_2=401;refseq.mrnaCoord_3=401;refseq.mrnaCoord_4=401;refseq.mrnaCoord_5=564;refseq.name2_1=ZDHHC16;refseq.name2_2=ZDHHC16;refseq.name2_3=ZDHHC16;refseq.name2_4=ZDHHC16;refseq.name2_5=ZDHHC16;refseq.name_1=NM_032327;refseq.name_2=NM_198043;refseq.name_3=NM_198044;refseq.name_4=NM_198045;refseq.name_5=NM_198046;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V72G;refseq.proteinCoordStr_2=p.V72G;refseq.proteinCoordStr_3=p.V72G;refseq.proteinCoordStr_4=p.V72G;refseq.proteinCoordStr_5=p.V72G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.referenceCodon_5=GTA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.spliceDist_5=-29;refseq.start_1=99201637;refseq.start_2=99201637;refseq.start_3=99201637;refseq.start_4=99201637;refseq.start_5=99201637;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=FilteredInAll GT 1/0 chr10 99327562 . G A 148.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.83;MQ0=0;OQ=799.64;QD=21.61;RankSumP=0.641212;SB=-315.35;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.184G>A;refseq.codingCoordStr_2=c.184G>A;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=99327562;refseq.end_2=99327562;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=393;refseq.name2_1=ANKRD2;refseq.name2_2=ANKRD2;refseq.name_1=NM_001129981;refseq.name_2=NM_020349;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A62T;refseq.proteinCoordStr_2=p.A62T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=99327562;refseq.start_2=99327562;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr10 99366082 . T C 183.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.83;MQ0=0;OQ=2507.19;QD=19.29;RankSumP=0.378741;SB=-1058.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.369A>G;refseq.codingCoordStr_2=c.369A>G;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.end_1=99366082;refseq.end_2=99366082;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=640;refseq.name2_1=MORN4;refseq.name2_2=MORN4;refseq.name_1=NM_001098831;refseq.name_2=NM_178832;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R123R;refseq.proteinCoordStr_2=p.R123R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=99366082;refseq.start_2=99366082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr10 99366142 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=3;HaplotypeScore=10.79;MQ=98.75;MQ0=0;OQ=4238.25;QD=19.01;RankSumP=0.200008;SB=-1559.99;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.309T>C;refseq.codingCoordStr_2=c.309T>C;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.end_1=99366142;refseq.end_2=99366142;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=580;refseq.name2_1=MORN4;refseq.name2_2=MORN4;refseq.name_1=NM_001098831;refseq.name_2=NM_178832;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P103P;refseq.proteinCoordStr_2=p.P103P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=99366142;refseq.start_2=99366142;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr10 99400780 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=193;Dels=0.00;HRun=2;HaplotypeScore=5.11;MQ=99.00;MQ0=0;OQ=2292.96;QD=11.88;RankSumP=0.461387;SB=-835.39;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.528T>C;refseq.codonCoord=176;refseq.end=99400780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_018425;refseq.name2=PI4K2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P176P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=93;refseq.start=99400780;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr10 99429531 . G C 145.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=98.48;MQ0=0;OQ=1393.44;QD=16.79;RankSumP=0.331483;SB=-494.34;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.122C>G;refseq.codonCoord=41;refseq.end=99429531;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_021732;refseq.name2=AVPI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=132;refseq.start=99429531;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr10 99488224 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=488;Dels=0.00;HRun=1;HaplotypeScore=13.83;MQ=98.85;MQ0=0;OQ=9632.22;QD=19.74;RankSumP=0.0218718;SB=-2791.10;SecondBestBaseQ=32;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_2=c.-1G>A;refseq.codingCoordStr_3=c.-1G>A;refseq.codingCoordStr_4=c.-1G>A;refseq.codingCoordStr_5=c.-1G>A;refseq.codingCoordStr_6=c.-1G>A;refseq.codingCoordStr_7=c.-1G>A;refseq.end_1=99494465;refseq.end_2=99488224;refseq.end_3=99488224;refseq.end_4=99488224;refseq.end_5=99488224;refseq.end_6=99488224;refseq.end_7=99488224;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.mrnaCoord_2=1;refseq.mrnaCoord_3=206;refseq.mrnaCoord_4=202;refseq.mrnaCoord_5=202;refseq.mrnaCoord_6=202;refseq.mrnaCoord_7=206;refseq.name2_1=ZFYVE27;refseq.name2_2=ZFYVE27;refseq.name2_3=ZFYVE27;refseq.name2_4=ZFYVE27;refseq.name2_5=ZFYVE27;refseq.name2_6=ZFYVE27;refseq.name2_7=ZFYVE27;refseq.name_1=NM_001174121;refseq.name_2=NM_001002261;refseq.name_3=NM_001002262;refseq.name_4=NM_001174119;refseq.name_5=NM_001174120;refseq.name_6=NM_001174122;refseq.name_7=NM_144588;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=utr5;refseq.positionType_5=utr5;refseq.positionType_6=utr5;refseq.positionType_7=utr5;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceDist_4=1;refseq.spliceDist_5=1;refseq.spliceDist_6=1;refseq.spliceDist_7=1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.spliceInfo_4=splice-acceptor_1;refseq.spliceInfo_5=splice-acceptor_1;refseq.spliceInfo_6=splice-acceptor_1;refseq.spliceInfo_7=splice-acceptor_1;refseq.start_1=99487079;refseq.start_2=99488224;refseq.start_3=99488224;refseq.start_4=99488224;refseq.start_5=99488224;refseq.start_6=99488224;refseq.start_7=99488224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;set=Intersection GT 1/0 chr10 99494620 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=764.44;QD=13.18;RankSumP=0.362405;SB=-80.88;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_3=c.413G>T;refseq.codingCoordStr_4=c.413G>T;refseq.codingCoordStr_5=c.317G>T;refseq.codingCoordStr_6=c.119G>T;refseq.codingCoordStr_7=c.413G>T;refseq.codonCoord_3=138;refseq.codonCoord_4=138;refseq.codonCoord_5=106;refseq.codonCoord_6=40;refseq.codonCoord_7=138;refseq.end_1=99498005;refseq.end_2=99499210;refseq.end_3=99494620;refseq.end_4=99494620;refseq.end_5=99494620;refseq.end_6=99494620;refseq.end_7=99494620;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_3=414;refseq.mrnaCoord_4=619;refseq.mrnaCoord_5=519;refseq.mrnaCoord_6=346;refseq.mrnaCoord_7=619;refseq.name2_1=ZFYVE27;refseq.name2_2=ZFYVE27;refseq.name2_3=ZFYVE27;refseq.name2_4=ZFYVE27;refseq.name2_5=ZFYVE27;refseq.name2_6=ZFYVE27;refseq.name2_7=ZFYVE27;refseq.name_1=NM_001174120;refseq.name_2=NM_001174122;refseq.name_3=NM_001002261;refseq.name_4=NM_001002262;refseq.name_5=NM_001174119;refseq.name_6=NM_001174121;refseq.name_7=NM_144588;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.G138V;refseq.proteinCoordStr_4=p.G138V;refseq.proteinCoordStr_5=p.G106V;refseq.proteinCoordStr_6=p.G40V;refseq.proteinCoordStr_7=p.G138V;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.referenceCodon_7=GGT;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.spliceDist_5=-43;refseq.spliceDist_6=-43;refseq.spliceDist_7=-43;refseq.start_1=99488432;refseq.start_2=99488432;refseq.start_3=99494620;refseq.start_4=99494620;refseq.start_5=99494620;refseq.start_6=99494620;refseq.start_7=99494620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=Intersection GT 0/1 chr10 99521405 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.53297e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.176A>C;refseq.codonCoord=59;refseq.end=99521405;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_003015;refseq.name2=SFRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D59A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=342;refseq.start=99521405;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 99521561 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.20G>C;refseq.codonCoord=7;refseq.end=99521561;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_003015;refseq.name2=SFRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G7A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=186;refseq.start=99521561;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr10 99615309 . C T 165.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=3.74;MQ=98.71;MQ0=0;OQ=5172.69;QD=18.47;RankSumP=0.207108;SB=-2027.86;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.1972G>A;refseq.codonCoord_2=658;refseq.end_1=99615326;refseq.end_2=99615309;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2328;refseq.name2_1=GOLGA7B;refseq.name2_2=CRTAC1;refseq.name_1=NM_001010917;refseq.name_2=NM_018058;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E658K;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=153;refseq.start_1=99614027;refseq.start_2=99615309;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr10 99657873 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=1.44441e-06;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.737G>C;refseq.codonCoord=246;refseq.end=99657873;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_018058;refseq.name2=CRTAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G246A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=22;refseq.start=99657873;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr10 99686060 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.278T>G;refseq.codonCoord=93;refseq.end=99686060;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_018058;refseq.name2=CRTAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=54;refseq.start=99686060;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 99959497 . C T 0.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=421;Dels=0.00;HRun=4;HaplotypeScore=5.05;MQ=98.82;MQ0=0;OQ=7665.32;QD=18.21;RankSumP=0.00000;SB=-2984.19;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1636C>T;refseq.codonCoord=546;refseq.end=99959497;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1931;refseq.name=NM_014472;refseq.name2=C10orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.P546S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-150;refseq.start=99959497;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=filterInsoap-gatk GT 0/1 chr10 99959558 . A G 225.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=10.68;MQ=98.87;MQ0=0;OQ=10742.00;QD=19.18;RankSumP=0.268921;SB=-4002.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1697A>G;refseq.codonCoord=566;refseq.end=99959558;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1992;refseq.name=NM_014472;refseq.name2=C10orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.H566R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-89;refseq.start=99959558;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr10 99981398 . A G 270.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=3.19;MQ=98.94;MQ0=0;OQ=11364.11;QD=37.88;RankSumP=1.00000;SB=-5455.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1925A>G;refseq.codonCoord=642;refseq.end=99981398;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2220;refseq.name=NM_014472;refseq.name2=C10orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.H642R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-37;refseq.start=99981398;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr10 100007443 . T G 353.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=8.02;MQ=98.85;MQ0=0;OQ=5110.38;QD=20.28;RankSumP=0.469516;SB=-1674.32;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1214A>C;refseq.codonCoord=405;refseq.end=100007443;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_032211;refseq.name2=LOXL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D405A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-47;refseq.start=100007443;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr10 100008834 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.74;MQ0=0;OQ=769.77;QD=21.38;RankSumP=0.352490;SB=-39.53;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.843C>T;refseq.codonCoord=281;refseq.end=100008834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_032211;refseq.name2=LOXL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H281H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-79;refseq.start=100008834;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr10 100010870 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=13.80;MQ=96.08;MQ0=0;OQ=1180.87;QD=11.35;RankSumP=0.302709;SB=-292.24;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.461G>A;refseq.codonCoord=154;refseq.end=100010870;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_032211;refseq.name2=LOXL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R154Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=100010870;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr10 100180910 . G A 223.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=98.83;MQ0=0;OQ=2193.25;QD=16.25;RankSumP=0.0465005;SB=-1078.98;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.636C>T;refseq.codingCoordStr_2=c.636C>T;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=100180910;refseq.end_2=100180910;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=882;refseq.mrnaCoord_2=891;refseq.name2_1=HPS1;refseq.name2_2=HPS1;refseq.name_1=NM_000195;refseq.name_2=NM_182639;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L212L;refseq.proteinCoordStr_2=p.L212L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=100180910;refseq.start_2=100180910;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr10 100209364 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=209;Dels=0.00;HRun=4;HaplotypeScore=29.30;MQ=97.56;MQ0=0;OQ=2768.50;QD=13.25;RankSumP=0.0158735;SB=-380.65;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.1562A>T;refseq.codingCoordStr_2=c.1400A>T;refseq.codingCoordStr_3=c.*159A>T;refseq.codingCoordStr_4=c.1736A>T;refseq.codonCoord_1=521;refseq.codonCoord_2=467;refseq.codonCoord_4=579;refseq.end_1=100209364;refseq.end_2=100209364;refseq.end_3=100209364;refseq.end_4=100209364;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1635;refseq.mrnaCoord_2=1473;refseq.mrnaCoord_3=1879;refseq.mrnaCoord_4=1809;refseq.name2_1=HPSE2;refseq.name2_2=HPSE2;refseq.name2_3=HPSE2;refseq.name2_4=HPSE2;refseq.name_1=NM_001166244;refseq.name_2=NM_001166245;refseq.name_3=NM_001166246;refseq.name_4=NM_021828;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y521F;refseq.proteinCoordStr_2=p.Y467F;refseq.proteinCoordStr_4=p.Y579F;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=123;refseq.spliceDist_2=123;refseq.spliceDist_3=123;refseq.spliceDist_4=123;refseq.start_1=100209364;refseq.start_2=100209364;refseq.start_3=100209364;refseq.start_4=100209364;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_4=TTT;set=soap-filterIngatk GT 1/0 chr10 100982210 . G T 12.63 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.54;MQ0=0;QD=0.97;SB=-26.32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.333C>A;refseq.codingCoordStr_2=c.333C>A;refseq.codingCoordStr_3=c.333C>A;refseq.codingCoordStr_4=c.333C>A;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.codonCoord_3=111;refseq.codonCoord_4=111;refseq.end_1=100982210;refseq.end_2=100982210;refseq.end_3=100982210;refseq.end_4=100982210;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.mrnaCoord_3=406;refseq.mrnaCoord_4=406;refseq.name2_1=HPSE2;refseq.name2_2=HPSE2;refseq.name2_3=HPSE2;refseq.name2_4=HPSE2;refseq.name_1=NM_001166244;refseq.name_2=NM_001166245;refseq.name_3=NM_001166246;refseq.name_4=NM_021828;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A111A;refseq.proteinCoordStr_2=p.A111A;refseq.proteinCoordStr_3=p.A111A;refseq.proteinCoordStr_4=p.A111A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.start_1=100982210;refseq.start_2=100982210;refseq.start_3=100982210;refseq.start_4=100982210;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:11:-7.83,-3.31,-37.55:45.23 chr10 101360862 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.829G>C;refseq.codonCoord=277;refseq.end=101360862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=958;refseq.name=NM_031212;refseq.name2=SLC25A28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=252;refseq.start=101360862;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr10 101435581 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=2;HaplotypeScore=12.83;MQ=98.79;MQ0=0;OQ=3105.53;QD=13.99;RankSumP=0.0391658;SB=-1274.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.591A>C;refseq.codonCoord=197;refseq.end=101435581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_020354;refseq.name2=ENTPD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P197P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=43;refseq.start=101435581;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr10 101441249 . T C 138.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=3.12;MQ=98.60;MQ0=0;OQ=3947.26;QD=19.16;RankSumP=0.240311;SB=-1433.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.827T>C;refseq.codonCoord=276;refseq.end=101441249;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_020354;refseq.name2=ENTPD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V276A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-17;refseq.start=101441249;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr10 101463208 . A G 281.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5558.01;QD=39.70;RankSumP=1.00000;SB=-846.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1120T>C;refseq.codingCoordStr_2=c.*1126T>C;refseq.codonCoord_1=374;refseq.end_1=101463208;refseq.end_2=101463208;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1737;refseq.mrnaCoord_2=2976;refseq.name2_1=COX15;refseq.name2_2=COX15;refseq.name_1=NM_004376;refseq.name_2=NM_078470;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.F374L;refseq.referenceAA_1=Phe;refseq.referenceCodon_1=TTT;refseq.spliceDist_1=19;refseq.spliceDist_2=1258;refseq.start_1=101463208;refseq.start_2=101463208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTT;set=Intersection GT 1/1 chr10 101479326 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.246A>G;refseq.codingCoordStr_2=c.246A>G;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.end_1=101479326;refseq.end_2=101479326;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=863;refseq.name2_1=COX15;refseq.name2_2=COX15;refseq.name_1=NM_004376;refseq.name_2=NM_078470;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G82G;refseq.proteinCoordStr_2=p.G82G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=101479326;refseq.start_2=101479326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr10 101534437 . A T 75.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=14.09;MQ=98.28;MQ0=0;OQ=14741.15;QD=39.31;RankSumP=1.00000;SB=-6354.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.116A>T;refseq.codonCoord=39;refseq.end=101534437;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y39F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=83;refseq.start=101534437;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr10 101585986 . T A 231.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.82;MQ0=0;OQ=8028.26;QD=20.96;RankSumP=0.0585907;SB=-2720.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3563T>A;refseq.codonCoord=1188;refseq.end=101585986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3702;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1188E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-52;refseq.start=101585986;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr10 101593610 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3806T>G;refseq.codonCoord=1269;refseq.end=101593610;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3945;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1269G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-38;refseq.start=101593610;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr10 101596851 . G T 111.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.60;MQ0=0;OQ=1304.40;QD=13.31;RankSumP=0.367337;SB=-553.69;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4290G>T;refseq.codonCoord=1430;refseq.end=101596851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4429;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1430V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-24;refseq.start=101596851;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr10 101600523 . C T 153.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=708;Dels=0.00;HRun=0;HaplotypeScore=16.88;MQ=98.70;MQ0=0;OQ=13626.02;QD=19.25;RankSumP=0.000451299;SB=-4318.12;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4488C>T;refseq.codonCoord=1496;refseq.end=101600523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4627;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1496H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-21;refseq.start=101600523;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=filterInsoap-gatk GT 0/1 chr10 101601284 . G A 248.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=99.00;MQ0=0;OQ=2755.94;QD=14.74;RankSumP=0.267302;SB=-1270.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4544G>A;refseq.codonCoord=1515;refseq.end=101601284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4683;refseq.name=NM_000392;refseq.name2=ABCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1515Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=36;refseq.start=101601284;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr10 101629786 . G A 356.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=10.68;MQ=98.79;MQ0=0;OQ=5037.25;QD=19.75;RankSumP=0.327775;SB=-2065.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4320C>T;refseq.codonCoord=1440;refseq.end=101629786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4412;refseq.name=NM_015221;refseq.name2=DNMBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1440S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-229;refseq.start=101629786;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr10 101635488 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=97.32;MQ0=0;OQ=370.44;QD=8.82;RankSumP=0.715280;SB=-187.62;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3744A>G;refseq.codonCoord=1248;refseq.end=101635488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3836;refseq.name=NM_015221;refseq.name2=DNMBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1248P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-55;refseq.start=101635488;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 101636358 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3307G>T;refseq.codonCoord=1103;refseq.end=101636358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3399;refseq.name=NM_015221;refseq.name2=DNMBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1103F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=22;refseq.start=101636358;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr10 101806793 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=320;Dels=0.00;HRun=3;HaplotypeScore=34.69;MQ=98.25;MQ0=0;OQ=112.55;QD=0.35;RankSumP=0.00000;SB=402.21;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.978T>G;refseq.codonCoord=326;refseq.end=101806793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1238;refseq.name=NM_001308;refseq.name2=CPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G326G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-34;refseq.start=101806793;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 101954302 . G A 197.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.86;MQ0=0;OQ=5200.74;QD=18.31;RankSumP=0.159079;SB=-1372.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1458C>T;refseq.codonCoord=486;refseq.end=101954302;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_001278;refseq.name2=CHUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S486S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-50;refseq.start=101954302;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr10 101967873 . C T 206.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=98.55;MQ0=0;OQ=4018.52;QD=19.60;RankSumP=0.308545;SB=-1122.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.802G>A;refseq.codonCoord=268;refseq.end=101967873;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_001278;refseq.name2=CHUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V268I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=101967873;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr10 101968849 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.595A>C;refseq.codonCoord=199;refseq.end=101968849;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_001278;refseq.name2=CHUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=31;refseq.start=101968849;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr10 102046023 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1202T>G;refseq.codonCoord=401;refseq.end=102046023;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1585;refseq.name=NM_016112;refseq.name2=PKD2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V401G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=17;refseq.start=102046023;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 102047352 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=120;Dels=0.00;HRun=2;HaplotypeScore=13.88;MQ=95.28;MQ0=0;OQ=129.64;QD=1.08;RankSumP=0.00000;SB=71.25;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.733T>G;refseq.codonCoord=245;refseq.end=102047352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_016112;refseq.name2=PKD2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W245G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=102047352;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 102246931 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=2.30914e-08;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2087T>G;refseq.codonCoord=696;refseq.end=102246931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2189;refseq.name=NM_015490;refseq.name2=SEC31B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V696G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-50;refseq.start=102246931;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 102680820 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2431T>G;refseq.codingCoordStr_2=c.2431T>G;refseq.codonCoord_1=811;refseq.codonCoord_2=811;refseq.end_1=102680820;refseq.end_2=102680820;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2973;refseq.mrnaCoord_2=2973;refseq.name2_1=FAM178A;refseq.name2_2=FAM178A;refseq.name_1=NM_001136123;refseq.name_2=NM_018121;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F811V;refseq.proteinCoordStr_2=p.F811V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=102680820;refseq.start_2=102680820;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/0 chr10 102724768 . C G 200.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.11;MQ0=0;OQ=2394.14;QD=14.51;RankSumP=0.110549;SB=-798.79;SecondBestBaseQ=32;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.end_1=102727368;refseq.end_2=102724768;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=37;refseq.name2_1=SEMA4G;refseq.name2_2=MIR608;refseq.name_1=NM_017893;refseq.name_2=NR_030339;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=37;refseq.start_1=102723367;refseq.start_2=102724768;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr10 102733484 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.75;MQ0=0;OQ=838.31;QD=13.31;RankSumP=0.278336;SB=-438.40;SecondBestBaseQ=28;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_4=c.2138G>A;refseq.codonCoord_4=713;refseq.end_1=102733491;refseq.end_2=102733491;refseq.end_3=102733491;refseq.end_4=102733484;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=2522;refseq.name2_1=MRPL43;refseq.name2_2=MRPL43;refseq.name2_3=MRPL43;refseq.name2_4=SEMA4G;refseq.name_1=NM_176792;refseq.name_2=NM_176793;refseq.name_3=NM_176794;refseq.name_4=NM_017893;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R713H;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGC;refseq.spliceDist_4=433;refseq.start_1=102729130;refseq.start_2=102731301;refseq.start_3=102731301;refseq.start_4=102733484;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=His;refseq.variantCodon_4=CAC;set=Intersection GT 1/0 chr10 102736493 . C T 345.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=10.30;MQ=98.77;MQ0=0;OQ=4993.88;QD=17.52;RankSumP=0.365035;SB=-2001.51;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.468G>A;refseq.codingCoordStr_2=c.465+3;refseq.codingCoordStr_3=c.465+3;refseq.codingCoordStr_4=c.465+3;refseq.codonCoord_1=156;refseq.end_1=102736493;refseq.end_2=102736493;refseq.end_3=102736493;refseq.end_4=102736493;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=540;refseq.name2_1=MRPL43;refseq.name2_2=MRPL43;refseq.name2_3=MRPL43;refseq.name2_4=MRPL43;refseq.name_1=NM_032112;refseq.name_2=NM_176792;refseq.name_3=NM_176793;refseq.name_4=NM_176794;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.proteinCoordStr_1=p.V156V;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTG;refseq.spliceDist_1=230;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceInfo_2=splice-donor_3;refseq.spliceInfo_3=splice-donor_3;refseq.spliceInfo_4=splice-donor_3;refseq.start_1=102736493;refseq.start_2=102736493;refseq.start_3=102736493;refseq.start_4=102736493;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantCodon_1=GTA;set=Intersection GT 0/1 chr10 102753471 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.626C>G;refseq.codonCoord=209;refseq.end=102753471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_032429;refseq.name2=LZTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A209G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=218;refseq.start=102753471;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr10 102756564 . A G 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=94.07;MQ0=0;OQ=631.04;QD=27.44;RankSumP=1.00000;SB=-44.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1659A>G;refseq.codonCoord=553;refseq.end=102756564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1728;refseq.name=NM_032429;refseq.name2=LZTS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A553A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=333;refseq.start=102756564;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 102779816 . G C 31 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=6.73126e-08;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.151C>G;refseq.codonCoord=51;refseq.end=102779816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_024895;refseq.name2=PDZD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L51V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-76;refseq.start=102779816;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr10 102785420 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr10;refseq.codingCoordStr=c.344+6;refseq.end=102785420;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_030971;refseq.name2=SFXN3;refseq.positionType=intron;refseq.spliceDist=6;refseq.spliceInfo=splice-donor_6;refseq.start=102785420;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr10 102814339 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=2;HaplotypeScore=1.95;MQ=98.87;MQ0=0;OQ=2309.57;QD=18.19;RankSumP=0.478104;SB=-1003.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.764G>C;refseq.codonCoord=255;refseq.end=102814339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_030929;refseq.name2=KAZALD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G255A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-57;refseq.start=102814339;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 102978473 . G T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00116330;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.90C>A;refseq.codonCoord=30;refseq.end=102978473;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_006562;refseq.name2=LBX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N30K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=235;refseq.start=102978473;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr10 103288069 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1499C>G;refseq.codingCoordStr_2=c.1607C>G;refseq.codonCoord_1=500;refseq.codonCoord_2=536;refseq.end_1=103288069;refseq.end_2=103288069;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1612;refseq.mrnaCoord_2=1720;refseq.name2_1=BTRC;refseq.name2_2=BTRC;refseq.name_1=NM_003939;refseq.name_2=NM_033637;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A500G;refseq.proteinCoordStr_2=p.A536G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=103288069;refseq.start_2=103288069;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr10 103358644 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=802;Dels=0.00;HRun=0;HaplotypeScore=22.48;MQ=98.75;MQ0=0;OQ=14837.78;QD=18.50;RankSumP=0.449665;SB=-5524.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.467T>C;refseq.codonCoord=156;refseq.end=103358644;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_015448;refseq.name2=DPCD;refseq.positionType=CDS;refseq.proteinCoordStr=p.L156S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-41;refseq.start=103358644;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr10 103577991 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=60;Dels=0.00;HRun=2;HaplotypeScore=6.61;MQ=97.99;MQ0=0;QD=0.63;RankSumP=0.500000;SB=50.18;SecondBestBaseQ=12;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.codingCoordStr_2=c.549T>G;refseq.codingCoordStr_3=c.504T>G;refseq.codingCoordStr_4=c.450T>G;refseq.codingCoordStr_5=c.375T>G;refseq.codingCoordStr_6=c.369T>G;refseq.codingCoordStr_7=c.354T>G;refseq.codonCoord_2=183;refseq.codonCoord_3=168;refseq.codonCoord_4=150;refseq.codonCoord_5=125;refseq.codonCoord_6=123;refseq.codonCoord_7=118;refseq.end_1=103578125;refseq.end_2=103577991;refseq.end_3=103577991;refseq.end_4=103577991;refseq.end_5=103577991;refseq.end_6=103577991;refseq.end_7=103577991;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_2=901;refseq.mrnaCoord_3=856;refseq.mrnaCoord_4=802;refseq.mrnaCoord_5=727;refseq.mrnaCoord_6=383;refseq.mrnaCoord_7=706;refseq.name2_1=KCNIP2;refseq.name2_2=KCNIP2;refseq.name2_3=KCNIP2;refseq.name2_4=KCNIP2;refseq.name2_5=KCNIP2;refseq.name2_6=KCNIP2;refseq.name2_7=KCNIP2;refseq.name_1=NM_173197;refseq.name_2=NM_014591;refseq.name_3=NM_173191;refseq.name_4=NM_173192;refseq.name_5=NM_173193;refseq.name_6=NM_173194;refseq.name_7=NM_173195;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_2=p.G183G;refseq.proteinCoordStr_3=p.G168G;refseq.proteinCoordStr_4=p.G150G;refseq.proteinCoordStr_5=p.G125G;refseq.proteinCoordStr_6=p.G123G;refseq.proteinCoordStr_7=p.G118G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.referenceCodon_7=GGT;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.spliceDist_5=15;refseq.spliceDist_6=15;refseq.spliceDist_7=15;refseq.start_1=103577751;refseq.start_2=103577991;refseq.start_3=103577991;refseq.start_4=103577991;refseq.start_5=103577991;refseq.start_6=103577991;refseq.start_7=103577991;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;set=soap-filterIngatk GT 0/1 chr10 103889590 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1335A>C;refseq.codonCoord=445;refseq.end=103889590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1374;refseq.name=NM_015062;refseq.name2=PPRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P445P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=744;refseq.start=103889590;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 103894839 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr10;refseq.codingCoordStr=c.3679+2;refseq.end=103894839;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_015062;refseq.name2=PPRC1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=103894839;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr10 103897016 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4277A>C;refseq.codonCoord=1426;refseq.end=103897016;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4316;refseq.name=NM_015062;refseq.name2=PPRC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1426T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-124;refseq.start=103897016;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr10 103908972 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.640G>C;refseq.codonCoord=214;refseq.end=103908972;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_004741;refseq.name2=NOLC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A214P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=33;refseq.start=103908972;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 104126459 . T C 298.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=8.49;MQ=98.81;MQ0=0;OQ=12885.00;QD=37.68;RankSumP=1.00000;SB=-4450.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4197T>C;refseq.codonCoord=1399;refseq.end=104126459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4437;refseq.name=NM_004193;refseq.name2=GBF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1399I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-89;refseq.start=104126459;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr10 104146498 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.171T>G;refseq.codingCoordStr_2=c.171T>G;refseq.codingCoordStr_3=c.171T>G;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.end_1=104146498;refseq.end_2=104146498;refseq.end_3=104146498;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=436;refseq.mrnaCoord_3=365;refseq.name2_1=NFKB2;refseq.name2_2=NFKB2;refseq.name2_3=NFKB2;refseq.name_1=NM_001077493;refseq.name_2=NM_001077494;refseq.name_3=NM_002502;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C57W;refseq.proteinCoordStr_2=p.C57W;refseq.proteinCoordStr_3=p.C57W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=104146498;refseq.start_2=104146498;refseq.start_3=104146498;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 1/0 chr10 104149186 . A G 134.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.30;MQ0=0;OQ=87.17;QD=21.79;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1269A>G;refseq.codingCoordStr_2=c.1269A>G;refseq.codingCoordStr_3=c.1269A>G;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.codonCoord_3=423;refseq.end_1=104149186;refseq.end_2=104149186;refseq.end_3=104149186;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1470;refseq.mrnaCoord_2=1534;refseq.mrnaCoord_3=1463;refseq.name2_1=NFKB2;refseq.name2_2=NFKB2;refseq.name2_3=NFKB2;refseq.name_1=NM_001077493;refseq.name_2=NM_001077494;refseq.name_3=NM_002502;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P423P;refseq.proteinCoordStr_2=p.P423P;refseq.proteinCoordStr_3=p.P423P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=104149186;refseq.start_2=104149186;refseq.start_3=104149186;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=filterInsoap-gatk GT 1/1 chr10 104150424 . A G 263.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.20;MQ0=0;OQ=3683.39;QD=36.11;RankSumP=1.00000;SB=-1507.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1821A>G;refseq.codingCoordStr_2=c.1821A>G;refseq.codingCoordStr_3=c.1821A>G;refseq.codonCoord_1=607;refseq.codonCoord_2=607;refseq.codonCoord_3=607;refseq.end_1=104150424;refseq.end_2=104150424;refseq.end_3=104150424;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2022;refseq.mrnaCoord_2=2086;refseq.mrnaCoord_3=2015;refseq.name2_1=NFKB2;refseq.name2_2=NFKB2;refseq.name2_3=NFKB2;refseq.name_1=NM_001077493;refseq.name_2=NM_001077494;refseq.name_3=NM_002502;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A607A;refseq.proteinCoordStr_2=p.A607A;refseq.proteinCoordStr_3=p.A607A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=104150424;refseq.start_2=104150424;refseq.start_3=104150424;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr10 104164660 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1074T>G;refseq.codonCoord=358;refseq.end=104164660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1601;refseq.name=NM_002779;refseq.name2=PSD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G358G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-51;refseq.start=104164660;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 104174071 . G A 130.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=1831.02;QD=19.27;RankSumP=0.453561;SB=-493.51;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=104174071;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=502;refseq.name=NM_024040;refseq.name2=CUEDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P117P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-61;refseq.start=104174071;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr10 104219775 . C T 148.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=98.60;MQ0=0;OQ=7338.40;QD=42.67;RankSumP=1.00000;SB=-2954.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.204C>T;refseq.codonCoord=68;refseq.end=104219775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_024789;refseq.name2=TMEM180;refseq.positionType=CDS;refseq.proteinCoordStr=p.P68P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=36;refseq.start=104219775;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr10 104221044 . A G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.14;MQ0=0;OQ=2674.83;QD=38.21;RankSumP=1.00000;SB=-855.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.729A>G;refseq.codonCoord=243;refseq.end=104221044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_024789;refseq.name2=TMEM180;refseq.positionType=CDS;refseq.proteinCoordStr=p.V243V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=25;refseq.start=104221044;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr10 104254039 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.140A>C;refseq.codonCoord=47;refseq.end=104254039;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_016169;refseq.name2=SUFU;refseq.positionType=CDS;refseq.proteinCoordStr=p.D47A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-43;refseq.start=104254039;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr10 104479088 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.454A>C;refseq.codonCoord=152;refseq.end=104479088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_178858;refseq.name2=SFXN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T152P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=23;refseq.start=104479088;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 104562953 . T C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=97.60;MQ0=0;OQ=1393.33;QD=35.73;RankSumP=1.00000;SB=-643.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.967T>C;refseq.codingCoordStr_2=c.904T>C;refseq.codonCoord_1=323;refseq.codonCoord_2=302;refseq.end_1=104562953;refseq.end_2=104562953;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1051;refseq.mrnaCoord_2=1164;refseq.name2_1=C10orf26;refseq.name2_2=C10orf26;refseq.name_1=NM_001083913;refseq.name_2=NM_017787;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S323P;refseq.proteinCoordStr_2=p.S302P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=612;refseq.spliceDist_2=612;refseq.start_1=104562953;refseq.start_2=104562953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr10 104622207 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.183T>G;refseq.codonCoord=61;refseq.end=104622207;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_020682;refseq.name2=AS3MT;refseq.positionType=CDS;refseq.proteinCoordStr=p.C61W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=13;refseq.start=104622207;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr10 104622894 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.372C>T;refseq.codonCoord=124;refseq.end=104622894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_020682;refseq.name2=AS3MT;refseq.positionType=CDS;refseq.proteinCoordStr=p.F124F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=51;refseq.start=104622894;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr10 104668340 . G A 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.22;MQ0=0;OQ=148.85;QD=13.53;RankSumP=0.577381;SB=-7.00;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.113G>A;refseq.codingCoordStr_2=c.113G>A;refseq.codingCoordStr_3=c.113G>A;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.end_1=104668340;refseq.end_2=104668340;refseq.end_3=104668340;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=237;refseq.mrnaCoord_2=237;refseq.mrnaCoord_3=237;refseq.name2_1=CNNM2;refseq.name2_2=CNNM2;refseq.name2_3=CNNM2;refseq.name_1=NM_017649;refseq.name_2=NM_199076;refseq.name_3=NM_199077;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R38Q;refseq.proteinCoordStr_2=p.R38Q;refseq.proteinCoordStr_3=p.R38Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=237;refseq.spliceDist_2=237;refseq.spliceDist_3=237;refseq.start_1=104668340;refseq.start_2=104668340;refseq.start_3=104668340;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/0 chr10 104839458 . G A 126.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=99.00;MQ0=0;OQ=1353.64;QD=13.40;RankSumP=0.441199;SB=-194.13;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1647C>T;refseq.codingCoordStr_2=c.1647C>T;refseq.codonCoord_1=549;refseq.codonCoord_2=549;refseq.end_1=104839458;refseq.end_2=104839458;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1735;refseq.mrnaCoord_2=1833;refseq.name2_1=NT5C2;refseq.name2_2=NT5C2;refseq.name_1=NM_001134373;refseq.name_2=NM_012229;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D549D;refseq.proteinCoordStr_2=p.D549D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=198;refseq.spliceDist_2=198;refseq.start_1=104839458;refseq.start_2=104839458;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr10 104889187 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=345.52;QD=15.71;RankSumP=0.347385;SB=-144.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.141G>C;refseq.codingCoordStr_2=c.141G>C;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=104889187;refseq.end_2=104889187;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=229;refseq.mrnaCoord_2=327;refseq.name2_1=NT5C2;refseq.name2_2=NT5C2;refseq.name_1=NM_001134373;refseq.name_2=NM_012229;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K47N;refseq.proteinCoordStr_2=p.K47N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=104889187;refseq.start_2=104889187;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr10 105131470 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1416T>G;refseq.codonCoord=472;refseq.end=105131470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1439;refseq.name=NM_006951;refseq.name2=TAF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G472G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=105131470;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 105142196 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=105142196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_032747;refseq.name2=USMG5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=18;refseq.start=105142196;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 105144079 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=46.53;MQ=98.58;MQ0=0;OQ=7118.11;QD=13.82;RankSumP=0.117243;SB=-1162.85;SecondBestBaseQ=26;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.-143T>C;refseq.end_1=105144079;refseq.end_2=105144079;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=70;refseq.mrnaCoord_2=121;refseq.name2_1=MIR1307;refseq.name2_2=USMG5;refseq.name_1=NR_031707;refseq.name_2=NM_032747;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr5;refseq.spliceDist_1=70;refseq.spliceDist_2=63;refseq.start_1=105144079;refseq.start_2=105144079;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr10 105167635 . G T 213.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=98.64;MQ0=0;OQ=2645.68;QD=16.64;RankSumP=0.417355;SB=-934.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1867G>T;refseq.codonCoord=623;refseq.end=105167635;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1954;refseq.name=NM_014976;refseq.name2=PDCD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A623S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-45;refseq.start=105167635;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr10 105184076 . C T 262.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=5.90;MQ=98.78;MQ0=0;OQ=5228.29;QD=19.44;RankSumP=0.238065;SB=-1469.28;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3646C>T;refseq.codonCoord=1216;refseq.end=105184076;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3733;refseq.name=NM_014976;refseq.name2=PDCD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1216F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-22;refseq.start=105184076;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr10 105195292 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=4.75;MQ=98.41;MQ0=0;OQ=1479.43;QD=16.08;RankSumP=0.0706197;SB=-189.79;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.5612A>C;refseq.codonCoord=1871;refseq.end=105195292;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5699;refseq.name=NM_014976;refseq.name2=PDCD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1871A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=168;refseq.start=105195292;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 105208242 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=5.09;MQ=96.14;MQ0=0;OQ=1757.48;QD=22.25;RankSumP=1.00000;SB=-397.49;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.257T>C;refseq.codonCoord=86;refseq.end=105208242;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_001001412;refseq.name2=CALHM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-299;refseq.start=105208242;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr10 105208244 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=96.17;MQ0=0;OQ=918.15;QD=11.48;RankSumP=0.162291;SB=-144.57;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.255G>A;refseq.codonCoord=85;refseq.end=105208244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_001001412;refseq.name2=CALHM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P85P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-301;refseq.start=105208244;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr10 105208349 . T C 270.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=5.55;MQ=98.35;MQ0=0;OQ=7745.47;QD=36.03;RankSumP=1.00000;SB=-3261.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.150A>G;refseq.codonCoord=50;refseq.end=105208349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_001001412;refseq.name2=CALHM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=290;refseq.start=105208349;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 105334441 . G A 37.24 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;QD=4.14;RankSumP=0.0583333;SB=-3.99;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.808G>A;refseq.codonCoord=270;refseq.end=105334441;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_004210;refseq.name2=NEURL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G270S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=159;refseq.start=105334441;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr10 105334746 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.19;MQ0=0;OQ=208.35;QD=10.97;RankSumP=0.726206;SB=-93.91;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1113T>C;refseq.codonCoord=371;refseq.end=105334746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1523;refseq.name=NM_004210;refseq.name2=NEURL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P371P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-227;refseq.start=105334746;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr10 105351806 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=3;HaplotypeScore=11.56;MQ=98.45;MQ0=0;OQ=2224.30;QD=16.12;RankSumP=0.115048;SB=-650.74;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3075A>C;refseq.codonCoord=1025;refseq.end=105351806;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3215;refseq.name=NM_014631;refseq.name2=SH3PXD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1025I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=1731;refseq.start=105351806;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr10 105352094 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=180;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=98.29;MQ0=0;OQ=2813.32;QD=15.63;RankSumP=0.242035;SB=-647.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2787C>T;refseq.codonCoord=929;refseq.end=105352094;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2927;refseq.name=NM_014631;refseq.name2=SH3PXD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F929F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=1443;refseq.start=105352094;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr10 105352199 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=690;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=98.66;MQ0=0;OQ=13295.73;QD=19.27;RankSumP=0.315112;SB=-5488.70;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2682A>G;refseq.codonCoord=894;refseq.end=105352199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2822;refseq.name=NM_014631;refseq.name2=SH3PXD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K894K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1338;refseq.start=105352199;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr10 105362772 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1002A>C;refseq.codonCoord=334;refseq.end=105362772;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1142;refseq.name=NM_014631;refseq.name2=SH3PXD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P334P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=166;refseq.start=105362772;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 105604997 . C T 22.34 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.72;RankSumP=0.266667;SB=-26.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.18G>A;refseq.codonCoord=6;refseq.end=105604997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=158;refseq.name=NM_014631;refseq.name2=SH3PXD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V6V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-55;refseq.start=105604997;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr10 105647306 . G C 110.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=98.18;MQ0=0;OQ=13190.50;QD=48.14;RankSumP=1.00000;SB=-6158.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.743C>G;refseq.codonCoord=248;refseq.end=105647306;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_024928;refseq.name2=OBFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S248C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-11;refseq.start=105647306;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr10 105649816 . T C 312.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=98.89;MQ0=0;OQ=11646.91;QD=39.35;RankSumP=1.00000;SB=-3940.62;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.451A>G;refseq.codonCoord=151;refseq.end=105649816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_024928;refseq.name2=OBFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=105649816;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr10 105769632 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3283A>C;refseq.codonCoord=1095;refseq.end=105769632;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3317;refseq.name=NM_014720;refseq.name2=SLK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1095P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-39;refseq.start=105769632;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 105786809 . A G 333.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=3.26;MQ=98.84;MQ0=0;OQ=4796.10;QD=41.35;RankSumP=1.00000;SB=-2063.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3261T>C;refseq.codonCoord=1087;refseq.end=105786809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3430;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1087I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-17;refseq.start=105786809;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr10 105788862 . T C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.28;MQ0=0;OQ=1622.70;QD=35.28;RankSumP=1.00000;SB=-706.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2904A>G;refseq.codonCoord=968;refseq.end=105788862;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3073;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P968P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=105788862;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr10 105789206 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=3;HaplotypeScore=4.48;MQ=98.63;MQ0=0;OQ=10558.23;QD=37.71;RankSumP=1.00000;SB=-3561.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2883C>A;refseq.codonCoord=961;refseq.end=105789206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3052;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P961P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-14;refseq.start=105789206;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr10 105791243 . G A 341.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.83;MQ0=0;OQ=3564.41;QD=39.17;RankSumP=1.00000;SB=-1450.42;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2595C>T;refseq.codonCoord=865;refseq.end=105791243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2764;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R865R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-11;refseq.start=105791243;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr10 105800390 . T C 192.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=547;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=98.87;MQ0=0;OQ=22251.72;QD=40.68;RankSumP=1.00000;SB=-8925.92;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2107A>G;refseq.codonCoord=703;refseq.end=105800390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2276;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M703V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=15;refseq.start=105800390;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr10 105806906 . C T 398.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.88;MQ0=0;OQ=4899.57;QD=41.52;RankSumP=1.00000;SB=-1012.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1282G>A;refseq.codonCoord=428;refseq.end=105806906;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G428S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=15;refseq.start=105806906;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr10 105809946 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=531;Dels=0.00;HRun=0;HaplotypeScore=17.17;MQ=98.88;MQ0=0;OQ=21147.48;QD=39.83;RankSumP=1.00000;SB=-9666.07;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1062C>T;refseq.codonCoord=354;refseq.end=105809946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1231;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A354A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-80;refseq.start=105809946;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr10 105814323 . G A 374.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.67;MQ=98.42;MQ0=0;OQ=3611.14;QD=40.12;RankSumP=1.00000;SB=-1438.07;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.629C>T;refseq.codonCoord=210;refseq.end=105814323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T210M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=22;refseq.start=105814323;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr10 105827245 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.127A>C;refseq.codonCoord=43;refseq.end=105827245;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_000494;refseq.name2=COL17A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T43P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=30;refseq.start=105827245;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr10 105873638 . T C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.329405;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.312T>C;refseq.codingCoordStr_2=c.273T>C;refseq.codonCoord_1=104;refseq.codonCoord_2=91;refseq.end_1=105873638;refseq.end_2=105873638;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=396;refseq.name2_1=C10orf78;refseq.name2_2=C10orf78;refseq.name_1=NM_001002759;refseq.name_2=NM_145247;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H104H;refseq.proteinCoordStr_2=p.H91H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.start_1=105873638;refseq.start_2=105873638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr10 106027727 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.229A>C;refseq.codonCoord=77;refseq.end=106027727;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_183239;refseq.name2=GSTO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T77P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=86;refseq.start=106027727;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 106064683 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1117A>C;refseq.codonCoord=373;refseq.end=106064683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_033397;refseq.name2=ITPRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T373P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1130;refseq.start=106064683;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 106065071 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=98.34;MQ0=0;OQ=416.09;QD=18.91;RankSumP=0.179967;SB=-149.60;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.729C>T;refseq.codonCoord=243;refseq.end=106065071;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_033397;refseq.name2=ITPRIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I243I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=742;refseq.start=106065071;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr10 108357010 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1164.14;QD=14.37;RankSumP=0.0255035;SB=-475.40;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3069G>A;refseq.codingCoordStr_2=c.3069G>A;refseq.codonCoord_1=1023;refseq.codonCoord_2=1023;refseq.end_1=108357010;refseq.end_2=108357010;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3077;refseq.mrnaCoord_2=3077;refseq.name2_1=SORCS1;refseq.name2_2=SORCS1;refseq.name_1=NM_001013031;refseq.name_2=NM_052918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1023A;refseq.proteinCoordStr_2=p.A1023A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=108357010;refseq.start_2=108357010;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr10 108370203 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=934;Dels=0.00;HRun=0;HaplotypeScore=10.82;MQ=98.75;MQ0=0;OQ=20075.04;QD=21.49;RankSumP=0.229171;SB=-7354.76;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2769C>T;refseq.codingCoordStr_2=c.2769C>T;refseq.codonCoord_1=923;refseq.codonCoord_2=923;refseq.end_1=108370203;refseq.end_2=108370203;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2777;refseq.mrnaCoord_2=2777;refseq.name2_1=SORCS1;refseq.name2_2=SORCS1;refseq.name_1=NM_001013031;refseq.name_2=NM_052918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y923Y;refseq.proteinCoordStr_2=p.Y923Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=108370203;refseq.start_2=108370203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr10 108379101 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=98.79;MQ0=0;OQ=3158.07;QD=11.57;RankSumP=0.148241;SB=-1464.75;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2511T>C;refseq.codingCoordStr_2=c.2511T>C;refseq.codonCoord_1=837;refseq.codonCoord_2=837;refseq.end_1=108379101;refseq.end_2=108379101;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2519;refseq.mrnaCoord_2=2519;refseq.name2_1=SORCS1;refseq.name2_2=SORCS1;refseq.name_1=NM_001013031;refseq.name_2=NM_052918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F837F;refseq.proteinCoordStr_2=p.F837F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=108379101;refseq.start_2=108379101;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr10 111638307 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.452T>G;refseq.codingCoordStr_3=c.452T>G;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.end_1=111638307;refseq.end_2=111638307;refseq.end_3=111638307;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=572;refseq.mrnaCoord_3=572;refseq.name2_1=XPNPEP1;refseq.name2_2=XPNPEP1;refseq.name2_3=XPNPEP1;refseq.name_1=NR_030724;refseq.name_2=NM_001167604;refseq.name_3=NM_020383;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V151G;refseq.proteinCoordStr_3=p.V151G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.start_1=111638307;refseq.start_2=111638307;refseq.start_3=111638307;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr10 112256812 . G A 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=15.00;MQ=98.58;MQ0=0;OQ=5708.41;QD=32.07;RankSumP=1.00000;SB=-1685.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.658G>A;refseq.codonCoord=220;refseq.end=112256812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_004419;refseq.name2=DUSP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A220T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-91;refseq.start=112256812;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr10 112256813 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=12.16;MQ=98.58;MQ0=0;OQ=5703.02;QD=32.04;RankSumP=1.00000;SB=-1570.55;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.659C>T;refseq.codonCoord=220;refseq.end=112256813;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_004419;refseq.name2=DUSP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A220V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-90;refseq.start=112256813;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr10 112350812 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2578A>C;refseq.codonCoord=860;refseq.end=112350812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2704;refseq.name=NM_005445;refseq.name2=SMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T860P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=43;refseq.start=112350812;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 112351860 . A G 247.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=77.43;MQ0=6;OQ=13141.89;QD=37.98;RankSumP=1.00000;SB=-5447.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3039A>G;refseq.codonCoord=1013;refseq.end=112351860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3165;refseq.name=NM_005445;refseq.name2=SMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1013S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-67;refseq.start=112351860;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr10 112631043 . A G 223.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.64;MQ0=0;OQ=13135.16;QD=41.05;RankSumP=1.00000;SB=-6048.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.106A>G;refseq.codingCoordStr_2=c.73A>G;refseq.codonCoord_1=36;refseq.codonCoord_2=25;refseq.end_1=112631043;refseq.end_2=112631043;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=349;refseq.mrnaCoord_2=433;refseq.name2_1=PDCD4;refseq.name2_2=PDCD4;refseq.name_1=NM_014456;refseq.name_2=NM_145341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I36V;refseq.proteinCoordStr_2=p.I25V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=112631043;refseq.start_2=112631043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr10 113907075 . T A 307.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=98.88;MQ0=0;OQ=6095.06;QD=20.32;RankSumP=0.282065;SB=-1588.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2043A>T;refseq.codonCoord=681;refseq.end=113907075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2241;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.P681P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=63;refseq.start=113907075;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr10 113910455 . G A 363.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=98.87;MQ0=0;OQ=4364.65;QD=19.49;RankSumP=0.467699;SB=-1653.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1656C>T;refseq.codonCoord=552;refseq.end=113910455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1854;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.N552N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-104;refseq.start=113910455;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr10 113911439 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1470C>T;refseq.codonCoord=490;refseq.end=113911439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1668;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.C490C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-25;refseq.start=113911439;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr10 113911440 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1469G>T;refseq.codonCoord=490;refseq.end=113911440;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1667;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.C490F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-26;refseq.start=113911440;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr10 113925369 . T C 221.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=98.81;MQ0=0;OQ=2370.43;QD=16.13;RankSumP=0.321192;SB=-938.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.392A>G;refseq.codonCoord=131;refseq.end=113925369;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.E131G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-22;refseq.start=113925369;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr10 113930319 . T C 223.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=2168.97;QD=19.19;RankSumP=0.337064;SB=-587.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.127A>G;refseq.codonCoord=43;refseq.end=113930319;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_020918;refseq.name2=GPAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.I43V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=25;refseq.start=113930319;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr10 114043536 . C G 111.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=98.84;MQ0=0;OQ=7652.47;QD=23.26;RankSumP=0.429910;SB=-3018.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.534C>G;refseq.codonCoord=178;refseq.end=114043536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_058222;refseq.name2=TECTB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S178S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=51;refseq.start=114043536;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr10 114190345 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=2;HaplotypeScore=11.99;MQ=98.93;MQ0=0;OQ=4697.37;QD=17.86;RankSumP=5.78396e-06;SB=-1461.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.618C>T;refseq.codonCoord=206;refseq.end=114190345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1042;refseq.name=NM_022494;refseq.name2=ZDHHC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T206T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-64;refseq.start=114190345;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 1/0 chr10 114915481 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=91;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.74;MQ0=0;OQ=1285.15;QD=14.12;RankSumP=0.132825;SB=-495.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_4=false;refseq.changesAA_6=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.codingCoordStr_1=c.1569C>T;refseq.codingCoordStr_2=c.*98C>T;refseq.codingCoordStr_3=c.*98C>T;refseq.codingCoordStr_4=c.1500C>T;refseq.codingCoordStr_5=c.*98C>T;refseq.codingCoordStr_6=c.1551C>T;refseq.codonCoord_1=523;refseq.codonCoord_4=500;refseq.codonCoord_6=517;refseq.end_1=114915481;refseq.end_2=114915481;refseq.end_3=114915481;refseq.end_4=114915481;refseq.end_5=114915481;refseq.end_6=114915481;refseq.frame_1=2;refseq.frame_4=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_4=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2076;refseq.mrnaCoord_2=2075;refseq.mrnaCoord_3=1973;refseq.mrnaCoord_4=2007;refseq.mrnaCoord_5=1934;refseq.mrnaCoord_6=2058;refseq.name2_1=TCF7L2;refseq.name2_2=TCF7L2;refseq.name2_3=TCF7L2;refseq.name2_4=TCF7L2;refseq.name2_5=TCF7L2;refseq.name2_6=TCF7L2;refseq.name_1=NM_001146274;refseq.name_2=NM_001146283;refseq.name_3=NM_001146284;refseq.name_4=NM_001146285;refseq.name_5=NM_001146286;refseq.name_6=NM_030756;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.P523P;refseq.proteinCoordStr_4=p.P500P;refseq.proteinCoordStr_6=p.P517P;refseq.referenceAA_1=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_6=CCC;refseq.spliceDist_1=178;refseq.spliceDist_2=178;refseq.spliceDist_3=178;refseq.spliceDist_4=178;refseq.spliceDist_5=178;refseq.spliceDist_6=178;refseq.start_1=114915481;refseq.start_2=114915481;refseq.start_3=114915481;refseq.start_4=114915481;refseq.start_5=114915481;refseq.start_6=114915481;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Pro;refseq.variantAA_4=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_4=CCT;refseq.variantCodon_6=CCT;set=Intersection GT 0/1 chr10 115333063 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1193A>C;refseq.codonCoord=398;refseq.end=115333063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_004132;refseq.name2=HABP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y398S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-45;refseq.start=115333063;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr10 115354575 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=6.37;MQ=98.12;MQ0=0;OQ=1318.80;QD=9.99;RankSumP=0.469152;SB=-477.43;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3905T>C;refseq.codingCoordStr_2=c.4010T>C;refseq.codonCoord_1=1302;refseq.codonCoord_2=1337;refseq.end_1=115354575;refseq.end_2=115354575;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4069;refseq.mrnaCoord_2=4174;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1302T;refseq.proteinCoordStr_2=p.M1337T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.start_1=115354575;refseq.start_2=115354575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr10 115371737 . G A 223.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.79;MQ0=0;OQ=10080.53;QD=19.69;RankSumP=0.158978;SB=-3666.78;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2545C>T;refseq.codingCoordStr_2=c.2650C>T;refseq.codonCoord_1=849;refseq.codonCoord_2=884;refseq.end_1=115371737;refseq.end_2=115371737;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2709;refseq.mrnaCoord_2=2814;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R849C;refseq.proteinCoordStr_2=p.R884C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.start_1=115371737;refseq.start_2=115371737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr10 115379346 . G A 217.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=1;HaplotypeScore=8.95;MQ=98.95;MQ0=0;OQ=6958.15;QD=19.12;RankSumP=0.281839;SB=-1680.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1926C>T;refseq.codingCoordStr_2=c.2031C>T;refseq.codonCoord_1=642;refseq.codonCoord_2=677;refseq.end_1=115379346;refseq.end_2=115379346;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2090;refseq.mrnaCoord_2=2195;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L642L;refseq.proteinCoordStr_2=p.L677L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=115379346;refseq.start_2=115379346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr10 115379356 . G A 371.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.95;MQ0=0;OQ=7807.06;QD=19.04;RankSumP=0.433628;SB=-1955.81;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1916C>T;refseq.codingCoordStr_2=c.2021C>T;refseq.codonCoord_1=639;refseq.codonCoord_2=674;refseq.end_1=115379356;refseq.end_2=115379356;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2080;refseq.mrnaCoord_2=2185;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A639V;refseq.proteinCoordStr_2=p.A674V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=115379356;refseq.start_2=115379356;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr10 115382909 . T A 23.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=25.14;MQ=99.00;MQ0=0;OQ=4570.22;QD=20.49;RankSumP=0.00000;SB=-1119.83;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1451A>T;refseq.codingCoordStr_2=c.1556A>T;refseq.codonCoord_1=484;refseq.codonCoord_2=519;refseq.end_1=115382909;refseq.end_2=115382909;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1615;refseq.mrnaCoord_2=1720;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N484I;refseq.proteinCoordStr_2=p.N519I;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=115382909;refseq.start_2=115382909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=filterInsoap-gatk GT 1/0 chr10 115383938 . C T 198.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=98.74;MQ0=0;OQ=5008.10;QD=20.36;RankSumP=0.253128;SB=-1388.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1345G>A;refseq.codingCoordStr_2=c.1450G>A;refseq.codonCoord_1=449;refseq.codonCoord_2=484;refseq.end_1=115383938;refseq.end_2=115383938;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1509;refseq.mrnaCoord_2=1614;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D449N;refseq.proteinCoordStr_2=p.D484N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=115383938;refseq.start_2=115383938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr10 115390034 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=743;Dels=0.00;HRun=3;HaplotypeScore=77.05;MQ=98.44;MQ0=0;OQ=742.38;QD=1.00;RankSumP=0.00000;SB=1353.22;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1265A>C;refseq.codingCoordStr_2=c.1370A>C;refseq.codonCoord_1=422;refseq.codonCoord_2=457;refseq.end_1=115390034;refseq.end_2=115390034;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1429;refseq.mrnaCoord_2=1534;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y422S;refseq.proteinCoordStr_2=p.Y457S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=115390034;refseq.start_2=115390034;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr10 115390035 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1264T>C;refseq.codingCoordStr_2=c.1369T>C;refseq.codonCoord_1=422;refseq.codonCoord_2=457;refseq.end_1=115390035;refseq.end_2=115390035;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1428;refseq.mrnaCoord_2=1533;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y422H;refseq.proteinCoordStr_2=p.Y457H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=115390035;refseq.start_2=115390035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 0/1 chr10 115395605 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.20;MQ0=0;OQ=1053.28;QD=14.04;RankSumP=0.134228;SB=-168.59;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1079A>G;refseq.codingCoordStr_2=c.1079A>G;refseq.codonCoord_1=360;refseq.codonCoord_2=360;refseq.end_1=115395605;refseq.end_2=115395605;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1243;refseq.mrnaCoord_2=1243;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q360R;refseq.proteinCoordStr_2=p.Q360R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=115395605;refseq.start_2=115395605;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr10 115395654 . C T 234.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=97.54;MQ0=0;OQ=2062.23;QD=14.84;RankSumP=0.397576;SB=-811.28;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1030G>A;refseq.codingCoordStr_2=c.1030G>A;refseq.codonCoord_1=344;refseq.codonCoord_2=344;refseq.end_1=115395654;refseq.end_2=115395654;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1194;refseq.mrnaCoord_2=1194;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A344T;refseq.proteinCoordStr_2=p.A344T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=115395654;refseq.start_2=115395654;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr10 115399830 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=838;Dels=0.00;HRun=1;HaplotypeScore=36.56;MQ=98.52;MQ0=0;OQ=12259.49;QD=14.63;RankSumP=0.0293714;SB=-3125.77;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.844G>A;refseq.codingCoordStr_2=c.844G>A;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.end_1=115399830;refseq.end_2=115399830;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=1008;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A282T;refseq.proteinCoordStr_2=p.A282T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=115399830;refseq.start_2=115399830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr10 115401588 . C A 137.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=356;Dels=0.00;HRun=1;HaplotypeScore=8.94;MQ=98.73;MQ0=0;OQ=4998.78;QD=14.04;RankSumP=0.318723;SB=-1768.81;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.639G>T;refseq.codingCoordStr_2=c.639G>T;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.end_1=115401588;refseq.end_2=115401588;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=803;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L213L;refseq.proteinCoordStr_2=p.L213L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=115401588;refseq.start_2=115401588;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr10 115401604 . A G 255.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.72;MQ0=0;OQ=14681.01;QD=38.23;RankSumP=1.00000;SB=-6880.45;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.623T>C;refseq.codingCoordStr_2=c.623T>C;refseq.codonCoord_1=208;refseq.codonCoord_2=208;refseq.end_1=115401604;refseq.end_2=115401604;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=787;refseq.mrnaCoord_2=787;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V208A;refseq.proteinCoordStr_2=p.V208A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=115401604;refseq.start_2=115401604;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr10 115402744 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.510T>C;refseq.codingCoordStr_2=c.510T>C;refseq.codonCoord_1=170;refseq.codonCoord_2=170;refseq.end_1=115402744;refseq.end_2=115402744;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=674;refseq.mrnaCoord_2=674;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F170F;refseq.proteinCoordStr_2=p.F170F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=115402744;refseq.start_2=115402744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr10 115402783 . A G 252.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=9.55;MQ=98.74;MQ0=0;OQ=6642.83;QD=16.77;RankSumP=0.148272;SB=-615.79;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.471T>C;refseq.codingCoordStr_2=c.471T>C;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=115402783;refseq.end_2=115402783;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=635;refseq.mrnaCoord_2=635;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y157Y;refseq.proteinCoordStr_2=p.Y157Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=115402783;refseq.start_2=115402783;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr10 115407279 . G A 253.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=98.86;MQ0=0;OQ=12850.97;QD=42.00;RankSumP=1.00000;SB=-5759.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.300C>T;refseq.codingCoordStr_2=c.300C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=115407279;refseq.end_2=115407279;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=464;refseq.mrnaCoord_2=464;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H100H;refseq.proteinCoordStr_2=p.H100H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=115407279;refseq.start_2=115407279;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr10 115412464 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.61;MQ0=0;OQ=8517.74;QD=23.27;RankSumP=0.0622759;SB=-3691.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.219T>C;refseq.codingCoordStr_2=c.219T>C;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=115412464;refseq.end_2=115412464;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=383;refseq.name2_1=NRAP;refseq.name2_2=NRAP;refseq.name_1=NM_006175;refseq.name_2=NM_198060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N73N;refseq.proteinCoordStr_2=p.N73N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=115412464;refseq.start_2=115412464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr10 115479142 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=17.89;MQ=98.70;MQ0=0;OQ=6251.36;QD=23.77;RankSumP=0.0954769;SB=-1590.01;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.765C>G;refseq.codingCoordStr_2=c.864C>G;refseq.codingCoordStr_3=c.765C>G;refseq.codingCoordStr_4=c.731C>G;refseq.codonCoord_1=255;refseq.codonCoord_2=288;refseq.codonCoord_3=255;refseq.codonCoord_4=244;refseq.end_1=115479142;refseq.end_2=115479142;refseq.end_3=115479142;refseq.end_4=115479142;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1077;refseq.mrnaCoord_2=1184;refseq.mrnaCoord_3=1151;refseq.mrnaCoord_4=905;refseq.name2_1=CASP7;refseq.name2_2=CASP7;refseq.name2_3=CASP7;refseq.name2_4=CASP7;refseq.name_1=NM_001227;refseq.name_2=NM_033338;refseq.name_3=NM_033339;refseq.name_4=NM_033340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D255E;refseq.proteinCoordStr_2=p.D288E;refseq.proteinCoordStr_3=p.D255E;refseq.proteinCoordStr_4=p.T244S;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.spliceDist_3=83;refseq.spliceDist_4=83;refseq.start_1=115479142;refseq.start_2=115479142;refseq.start_3=115479142;refseq.start_4=115479142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Ser;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=AGC;set=Intersection GT 1/0 chr10 115479157 . G A 234.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=1;HaplotypeScore=5.42;MQ=98.78;MQ0=0;OQ=6325.72;QD=21.37;RankSumP=0.384363;SB=-1581.97;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.780G>A;refseq.codingCoordStr_2=c.879G>A;refseq.codingCoordStr_3=c.780G>A;refseq.codingCoordStr_4=c.746G>A;refseq.codonCoord_1=260;refseq.codonCoord_2=293;refseq.codonCoord_3=260;refseq.codonCoord_4=249;refseq.end_1=115479157;refseq.end_2=115479157;refseq.end_3=115479157;refseq.end_4=115479157;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1092;refseq.mrnaCoord_2=1199;refseq.mrnaCoord_3=1166;refseq.mrnaCoord_4=920;refseq.name2_1=CASP7;refseq.name2_2=CASP7;refseq.name2_3=CASP7;refseq.name2_4=CASP7;refseq.name_1=NM_001227;refseq.name_2=NM_033338;refseq.name_3=NM_033339;refseq.name_4=NM_033340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q260Q;refseq.proteinCoordStr_2=p.Q293Q;refseq.proteinCoordStr_3=p.Q260Q;refseq.proteinCoordStr_4=p.R249K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.spliceDist_4=98;refseq.start_1=115479157;refseq.start_2=115479157;refseq.start_3=115479157;refseq.start_4=115479157;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Lys;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=AAA;set=Intersection GT 1/0 chr10 115599905 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=10.72;MQ=98.87;MQ0=0;OQ=21427.63;QD=48.48;RankSumP=1.00000;SB=-9275.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.949G>C;refseq.codonCoord=317;refseq.end=115599905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1867;refseq.name=NM_014881;refseq.name2=DCLRE1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D317H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=489;refseq.start=115599905;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr10 115634030 . G A 367 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=98.35;MQ0=0;OQ=5903.71;QD=18.92;RankSumP=0.112303;SB=-2180.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.940G>A;refseq.codonCoord=314;refseq.end=115634030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1152;refseq.name=NM_198514;refseq.name2=NHLRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V314I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=31;refseq.start=115634030;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr10 115795046 . G C 117.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.30;MQ0=0;OQ=2165.74;QD=29.67;RankSumP=1.00000;SB=-668.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1165G>C;refseq.codonCoord=389;refseq.end=115795046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1251;refseq.name=NM_000684;refseq.name2=ADRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G389R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=1251;refseq.start=115795046;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr10 115975884 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.3094A>C;refseq.codonCoord=1032;refseq.end=115975884;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3247;refseq.name=NM_198795;refseq.name2=TDRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1032P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-82;refseq.start=115975884;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 116022509 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=2;HaplotypeScore=3.31;MQ=98.72;MQ0=0;OQ=3052.92;QD=13.81;RankSumP=0.0575662;SB=-1219.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.392A>G;refseq.codonCoord=131;refseq.end=116022509;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_198496;refseq.name2=VWA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E131G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=21;refseq.start=116022509;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr10 116046835 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2322A>C;refseq.codingCoordStr_2=c.2310A>C;refseq.codonCoord_1=774;refseq.codonCoord_2=770;refseq.end_1=116046835;refseq.end_2=116046835;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2623;refseq.mrnaCoord_2=2611;refseq.name2_1=AFAP1L2;refseq.name2_2=AFAP1L2;refseq.name_1=NM_001001936;refseq.name_2=NM_032550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T774T;refseq.proteinCoordStr_2=p.T770T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=116046835;refseq.start_2=116046835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr10 116050377 . T C 299.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=98.66;MQ0=0;OQ=6490.42;QD=39.34;RankSumP=1.00000;SB=-2343.91;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1605A>G;refseq.codingCoordStr_2=c.1605A>G;refseq.codonCoord_1=535;refseq.codonCoord_2=535;refseq.end_1=116050377;refseq.end_2=116050377;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1906;refseq.mrnaCoord_2=1906;refseq.name2_1=AFAP1L2;refseq.name2_2=AFAP1L2;refseq.name_1=NM_001001936;refseq.name_2=NM_032550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R535R;refseq.proteinCoordStr_2=p.R535R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=116050377;refseq.start_2=116050377;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr10 116063686 . C T 153.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=98.67;MQ0=0;OQ=15309.71;QD=39.16;RankSumP=1.00000;SB=-7452.98;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.726G>A;refseq.codingCoordStr_2=c.726G>A;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.end_1=116063686;refseq.end_2=116063686;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1027;refseq.mrnaCoord_2=1027;refseq.name2_1=AFAP1L2;refseq.name2_2=AFAP1L2;refseq.name_1=NM_001001936;refseq.name_2=NM_032550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T242T;refseq.proteinCoordStr_2=p.T242T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=116063686;refseq.start_2=116063686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr10 116154192 . T G 11.09 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.09;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.13A>C;refseq.codingCoordStr_2=c.13A>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=116154192;refseq.end_2=116154192;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=314;refseq.mrnaCoord_2=314;refseq.name2_1=AFAP1L2;refseq.name2_2=AFAP1L2;refseq.name_1=NM_001001936;refseq.name_2=NM_032550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K5Q;refseq.proteinCoordStr_2=p.K5Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=116154192;refseq.start_2=116154192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 1/0 chr10 116297494 . A G 107.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=97.64;MQ0=0;OQ=2809.37;QD=28.67;RankSumP=1.00000;SB=-1371.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.525T>C;refseq.codingCoordStr_2=c.525T>C;refseq.codingCoordStr_3=c.705T>C;refseq.codonCoord_1=175;refseq.codonCoord_2=175;refseq.codonCoord_3=235;refseq.end_1=116297494;refseq.end_2=116297494;refseq.end_3=116297494;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=827;refseq.mrnaCoord_3=804;refseq.name2_1=ABLIM1;refseq.name2_2=ABLIM1;refseq.name2_3=ABLIM1;refseq.name_1=NM_001003407;refseq.name_2=NM_001003408;refseq.name_3=NM_002313;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N175N;refseq.proteinCoordStr_2=p.N175N;refseq.proteinCoordStr_3=p.N235N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.start_1=116297494;refseq.start_2=116297494;refseq.start_3=116297494;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/1 chr10 116585347 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.356G>C;refseq.codingCoordStr_2=c.356G>C;refseq.codonCoord_1=119;refseq.codonCoord_2=119;refseq.end_1=116585347;refseq.end_2=116585347;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=691;refseq.mrnaCoord_2=691;refseq.name2_1=FAM160B1;refseq.name2_2=FAM160B1;refseq.name_1=NM_001135051;refseq.name_2=NM_020940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R119P;refseq.proteinCoordStr_2=p.R119P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=116585347;refseq.start_2=116585347;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 0/1 chr10 116585348 . G C 11.55 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=204;Dels=0.00;HRun=1;HaplotypeScore=40.66;MQ=97.28;MQ0=0;QD=0.06;RankSumP=0.00000;SB=291.02;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.357G>C;refseq.codingCoordStr_2=c.357G>C;refseq.codonCoord_1=119;refseq.codonCoord_2=119;refseq.end_1=116585348;refseq.end_2=116585348;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=692;refseq.name2_1=FAM160B1;refseq.name2_2=FAM160B1;refseq.name_1=NM_001135051;refseq.name_2=NM_020940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R119R;refseq.proteinCoordStr_2=p.R119R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=116585348;refseq.start_2=116585348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT 0/1 chr10 116592795 . A G 357.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.72;MQ0=0;OQ=6240.81;QD=19.50;RankSumP=0.320866;SB=-1735.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.636A>G;refseq.codingCoordStr_2=c.636A>G;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=116592795;refseq.end_2=116592795;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=971;refseq.mrnaCoord_2=971;refseq.name2_1=FAM160B1;refseq.name2_2=FAM160B1;refseq.name_1=NM_001135051;refseq.name_2=NM_020940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E212E;refseq.proteinCoordStr_2=p.E212E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=116592795;refseq.start_2=116592795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr10 116605035 . T C 155.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.59;MQ0=0;OQ=3008.86;QD=15.27;RankSumP=0.00282341;SB=-1083.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1893T>C;refseq.codingCoordStr_2=c.1893T>C;refseq.codonCoord_1=631;refseq.codonCoord_2=631;refseq.end_1=116605035;refseq.end_2=116605035;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2228;refseq.mrnaCoord_2=2228;refseq.name2_1=FAM160B1;refseq.name2_2=FAM160B1;refseq.name_1=NM_001135051;refseq.name_2=NM_020940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F631F;refseq.proteinCoordStr_2=p.F631F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=116605035;refseq.start_2=116605035;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 1/0 chr10 116709488 . T C 102.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.86;MQ0=0;OQ=2027.34;QD=13.25;RankSumP=0.493359;SB=-899.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.455T>C;refseq.codonCoord=152;refseq.end=116709488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_139169;refseq.name2=TRUB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I152T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=14;refseq.start=116709488;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr10 116709533 . G A 179.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=3.27;MQ=98.77;MQ0=0;OQ=2290.20;QD=14.49;RankSumP=0.439774;SB=-859.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.500G>A;refseq.codonCoord=167;refseq.end=116709533;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_139169;refseq.name2=TRUB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R167K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-24;refseq.start=116709533;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr10 116843731 . A C 53 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=71;Dels=0.00;HRun=2;HaplotypeScore=15.68;MQ=97.31;MQ0=0;OQ=56.74;QD=0.80;RankSumP=1.00983e-06;SB=68.21;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.232A>C;refseq.codonCoord=78;refseq.end=116843731;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_207303;refseq.name2=ATRNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T78P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-62;refseq.start=116843731;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 117065080 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=136;Dels=0.00;HRun=2;HaplotypeScore=19.57;MQ=98.36;MQ0=0;OQ=574.36;QD=4.22;RankSumP=0.00000;SB=110.38;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2881T>G;refseq.codonCoord=961;refseq.end=117065080;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3267;refseq.name=NM_207303;refseq.name2=ATRNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C961G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=63;refseq.start=117065080;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr10 117065165 . G A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=1;HaplotypeScore=14.48;MQ=98.56;MQ0=0;OQ=15805.31;QD=42.83;RankSumP=1.00000;SB=-6919.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2966G>A;refseq.codonCoord=989;refseq.end=117065165;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3352;refseq.name=NM_207303;refseq.name2=ATRNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S989N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-72;refseq.start=117065165;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr10 117218784 . A G 284.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.91;MQ0=0;OQ=3157.33;QD=15.25;RankSumP=0.361951;SB=-1324.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3609A>G;refseq.codonCoord=1203;refseq.end=117218784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3995;refseq.name=NM_207303;refseq.name2=ATRNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1203T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=117218784;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr10 117476753 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=796.62;QD=14.48;RankSumP=0.244928;SB=-98.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.3801G>T;refseq.codonCoord=1267;refseq.end=117476753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4187;refseq.name=NM_207303;refseq.name2=ATRNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1267L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=117476753;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr10 118218753 . T C 123 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=1.07;MQ=98.87;MQ0=0;OQ=1647.33;QD=14.20;RankSumP=0.142228;SB=-705.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.994T>C;refseq.codonCoord=332;refseq.end=118218753;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_001011709;refseq.name2=PNLIPRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F332L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-67;refseq.start=118218753;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr10 118221295 . A G 286.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=98.67;MQ0=0;OQ=3958.28;QD=21.05;RankSumP=0.0615489;SB=-1065.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1086A>G;refseq.codonCoord=362;refseq.end=118221295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_001011709;refseq.name2=PNLIPRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K362K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=26;refseq.start=118221295;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 118221350 . G A 354.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.42;MQ0=0;OQ=8869.00;QD=41.25;RankSumP=1.00000;SB=-3472.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1141G>A;refseq.codonCoord=381;refseq.end=118221350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_001011709;refseq.name2=PNLIPRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V381I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-32;refseq.start=118221350;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr10 118221353 . A G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=212;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=98.41;MQ0=0;OQ=8098.99;QD=38.20;RankSumP=1.00000;SB=-3005.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1144A>G;refseq.codonCoord=382;refseq.end=118221353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_001011709;refseq.name2=PNLIPRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R382G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-29;refseq.start=118221353;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr10 118303255 . T C 330.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.85;MQ=98.66;MQ0=0;OQ=5379.48;QD=19.21;RankSumP=0.0809081;SB=-1218.67;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.486T>C;refseq.codonCoord=162;refseq.end=118303255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_000936;refseq.name2=PNLIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N162N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=27;refseq.start=118303255;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr10 118341404 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=488.94;QD=12.54;RankSumP=0.595266;SB=-258.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.181A>G;refseq.codonCoord=61;refseq.end=118341404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_006229;refseq.name2=PNLIPRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N61D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-24;refseq.start=118341404;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr10 118353632 . T C 414.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=98.66;MQ0=0;OQ=7280.69;QD=41.37;RankSumP=1.00000;SB=-2056.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1164T>C;refseq.codonCoord=388;refseq.end=118353632;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_006229;refseq.name2=PNLIPRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S388S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=118353632;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr10 118358596 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=3.90;MQ=98.74;MQ0=0;OQ=1502.86;QD=11.65;RankSumP=0.322770;SB=-752.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1382T>C;refseq.codonCoord=461;refseq.end=118358596;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1400;refseq.name=NM_006229;refseq.name2=PNLIPRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L461P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=42;refseq.start=118358596;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 118417785 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.29A>C;refseq.codonCoord=10;refseq.end=118417785;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_144661;refseq.name2=C10orf82;refseq.positionType=CDS;refseq.proteinCoordStr=p.N10T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-27;refseq.start=118417785;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr10 118424699 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.293194;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1611C>T;refseq.codonCoord=537;refseq.end=118424699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1716;refseq.name=NM_025015;refseq.name2=HSPA12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y537Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=221;refseq.start=118424699;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/0 chr10 118947017 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=58;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.56;MQ0=0;OQ=448.02;QD=7.72;RankSumP=0.476709;SB=-231.60;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.28A>G;refseq.codonCoord=10;refseq.end=118947017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=28;refseq.name=NM_181840;refseq.name2=KCNK18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R10G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=28;refseq.start=118947017;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr10 119123958 . G C 271.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=98.70;MQ0=0;OQ=3035.45;QD=19.97;RankSumP=0.288479;SB=-833.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.771C>G;refseq.codonCoord=257;refseq.end=119123958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_173791;refseq.name2=PDZD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S257S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-102;refseq.start=119123958;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr10 119124048 . T C 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.62;MQ0=0;OQ=314.70;QD=6.29;RankSumP=0.569024;SB=-33.18;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.681A>G;refseq.codonCoord=227;refseq.end=119124048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_173791;refseq.name2=PDZD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G227G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-192;refseq.start=119124048;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr10 119758541 . C T 281.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=10768.31;QD=42.39;RankSumP=1.00000;SB=-4561.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1497G>A;refseq.codonCoord=499;refseq.end=119758541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1937;refseq.name=NM_014904;refseq.name2=RAB11FIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P499P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=186;refseq.start=119758541;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr10 120343900 . T C 74.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=97.05;MQ0=0;OQ=1820.67;QD=29.37;RankSumP=1.00000;SB=-765.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.847A>G;refseq.codonCoord=283;refseq.end=120343900;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_004248;refseq.name2=PRLHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.I283V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=853;refseq.start=120343900;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr10 120818959 . A G 371.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=3092.52;QD=37.71;RankSumP=1.00000;SB=-800.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.939T>C;refseq.codonCoord=313;refseq.end=120818959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_003750;refseq.name2=EIF3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D313D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-12;refseq.start=120818959;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr10 120886017 . G A 111.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=66.00;MQ0=207;OQ=9128.93;QD=21.74;RankSumP=1.00000;SB=-4162.23;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.942G>A;refseq.codonCoord_2=314;refseq.end_1=120886017;refseq.end_2=120886017;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=968;refseq.mrnaCoord_2=986;refseq.name2_1=FAM45B;refseq.name2_2=FAM45A;refseq.name_1=NR_027141;refseq.name_2=NM_207009;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P314P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=120886017;refseq.start_2=120886017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr10 120909236 . T C 193.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=98.90;MQ0=0;OQ=11449.10;QD=38.16;RankSumP=1.00000;SB=-5687.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.354A>G;refseq.codonCoord=118;refseq.end=120909236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_213649;refseq.name2=SFXN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A118A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=120909236;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 120910578 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.49;MQ0=0;OQ=1908.13;QD=19.67;RankSumP=0.299115;SB=-414.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.258A>G;refseq.codonCoord=86;refseq.end=120910578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_213649;refseq.name2=SFXN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q86Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=120910578;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr10 120923314 . G A 425.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.97;MQ0=1;OQ=11069.20;QD=41.30;RankSumP=1.00000;SB=-2626.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.372C>T;refseq.codingCoordStr_2=c.318C>T;refseq.codonCoord_1=124;refseq.codonCoord_2=106;refseq.end_1=120923314;refseq.end_2=120923314;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=415;refseq.mrnaCoord_2=361;refseq.name2_1=PRDX3;refseq.name2_2=PRDX3;refseq.name_1=NM_006793;refseq.name_2=NM_014098;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D124D;refseq.proteinCoordStr_2=p.D106D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=120923314;refseq.start_2=120923314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr10 121401305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.000738578;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.128A>C;refseq.codonCoord=43;refseq.end=121401305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_004281;refseq.name2=BAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N43T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-53;refseq.start=121401305;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr10 121419623 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.13;MQ0=0;OQ=266.25;QD=10.24;RankSumP=0.178275;SB=-48.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.451T>C;refseq.codonCoord=151;refseq.end=121419623;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_004281;refseq.name2=BAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C151R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-57;refseq.start=121419623;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr10 121426352 . A G 308.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.68;MQ0=0;OQ=11322.39;QD=40.58;RankSumP=1.00000;SB=-4914.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1296A>G;refseq.codonCoord=432;refseq.end=121426352;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1602;refseq.name=NM_004281;refseq.name2=BAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V432V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=387;refseq.start=121426352;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr10 121426473 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1417C>G;refseq.codonCoord=473;refseq.end=121426473;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1723;refseq.name=NM_004281;refseq.name2=BAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R473G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=508;refseq.start=121426473;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr10 121557463 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=4.35350e-09;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1470A>C;refseq.codonCoord=490;refseq.end=121557463;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_014937;refseq.name2=INPP5F;refseq.positionType=CDS;refseq.proteinCoordStr=p.E490D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=30;refseq.start=121557463;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr10 121669003 . A G 314.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=10499.93;QD=41.83;RankSumP=1.00000;SB=-4179.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1930A>G;refseq.codonCoord=644;refseq.end=121669003;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2002;refseq.name=NM_007190;refseq.name2=SEC23IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K644E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=58;refseq.start=121669003;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr10 122206852 . C T 42.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=88.40;MQ0=0;QD=14.08;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=122206852;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_001030059;refseq.name2=PPAPDC1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F15F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-12;refseq.start=122206852;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap-filterIngatk GT 0/1 chr10 122612359 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=2.64108e-08;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.649A>C;refseq.codonCoord=217;refseq.end=122612359;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_018117;refseq.name2=WDR11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T217P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-65;refseq.start=122612359;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr10 122614669 . G A 259.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.93;MQ0=0;OQ=7886.32;QD=22.86;RankSumP=0.399763;SB=-2572.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.834G>A;refseq.codonCoord=278;refseq.end=122614669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_018117;refseq.name2=WDR11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T278T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-46;refseq.start=122614669;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr10 122635366 . A T 302.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=99.00;MQ0=0;OQ=2540.00;QD=16.28;RankSumP=0.0694451;SB=-1265.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1899A>T;refseq.codonCoord=633;refseq.end=122635366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2145;refseq.name=NM_018117;refseq.name2=WDR11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A633A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=51;refseq.start=122635366;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr10 122639472 . A G 248.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.88;MQ0=0;OQ=2595.42;QD=14.75;RankSumP=0.162311;SB=-925.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2304A>G;refseq.codonCoord=768;refseq.end=122639472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2550;refseq.name=NM_018117;refseq.name2=WDR11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A768A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-40;refseq.start=122639472;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr10 122653575 . G A 360.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.52;MQ0=0;OQ=10188.82;QD=41.42;RankSumP=1.00000;SB=-3178.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2958G>A;refseq.codonCoord=986;refseq.end=122653575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3204;refseq.name=NM_018117;refseq.name2=WDR11;refseq.positionType=CDS;refseq.proteinCoordStr=p.L986L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=27;refseq.start=122653575;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr10 123288148 . T C 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=1;HaplotypeScore=16.38;MQ=98.90;MQ0=0;OQ=15343.94;QD=40.81;RankSumP=1.00000;SB=-7200.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.chr_6=chr10;refseq.chr_7=chr10;refseq.chr_8=chr10;refseq.chr_9=chr10;refseq.codingCoordStr_1=c.696A>G;refseq.codingCoordStr_2=c.696A>G;refseq.codingCoordStr_3=c.696A>G;refseq.codingCoordStr_4=c.429A>G;refseq.codingCoordStr_5=c.351A>G;refseq.codingCoordStr_6=c.696A>G;refseq.codingCoordStr_7=c.351A>G;refseq.codingCoordStr_8=c.429A>G;refseq.codingCoordStr_9=c.696A>G;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.codonCoord_3=232;refseq.codonCoord_4=143;refseq.codonCoord_5=117;refseq.codonCoord_6=232;refseq.codonCoord_7=117;refseq.codonCoord_8=143;refseq.codonCoord_9=232;refseq.end_1=123288148;refseq.end_2=123288148;refseq.end_3=123288148;refseq.end_4=123288148;refseq.end_5=123288148;refseq.end_6=123288148;refseq.end_7=123288148;refseq.end_8=123288148;refseq.end_9=123288148;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=846;refseq.mrnaCoord_3=846;refseq.mrnaCoord_4=748;refseq.mrnaCoord_5=792;refseq.mrnaCoord_6=1343;refseq.mrnaCoord_7=998;refseq.mrnaCoord_8=1076;refseq.mrnaCoord_9=1343;refseq.name2_1=FGFR2;refseq.name2_2=FGFR2;refseq.name2_3=FGFR2;refseq.name2_4=FGFR2;refseq.name2_5=FGFR2;refseq.name2_6=FGFR2;refseq.name2_7=FGFR2;refseq.name2_8=FGFR2;refseq.name2_9=FGFR2;refseq.name_1=NM_000141;refseq.name_2=NM_001144913;refseq.name_3=NM_001144914;refseq.name_4=NM_001144915;refseq.name_5=NM_001144916;refseq.name_6=NM_001144917;refseq.name_7=NM_001144918;refseq.name_8=NM_001144919;refseq.name_9=NM_022970;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.V232V;refseq.proteinCoordStr_2=p.V232V;refseq.proteinCoordStr_3=p.V232V;refseq.proteinCoordStr_4=p.V143V;refseq.proteinCoordStr_5=p.V117V;refseq.proteinCoordStr_6=p.V232V;refseq.proteinCoordStr_7=p.V117V;refseq.proteinCoordStr_8=p.V143V;refseq.proteinCoordStr_9=p.V232V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceAA_8=Val;refseq.referenceAA_9=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.referenceCodon_5=GTA;refseq.referenceCodon_6=GTA;refseq.referenceCodon_7=GTA;refseq.referenceCodon_8=GTA;refseq.referenceCodon_9=GTA;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.spliceDist_4=-53;refseq.spliceDist_5=-53;refseq.spliceDist_6=-53;refseq.spliceDist_7=-53;refseq.spliceDist_8=-53;refseq.spliceDist_9=-53;refseq.start_1=123288148;refseq.start_2=123288148;refseq.start_3=123288148;refseq.start_4=123288148;refseq.start_5=123288148;refseq.start_6=123288148;refseq.start_7=123288148;refseq.start_8=123288148;refseq.start_9=123288148;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantAA_9=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;refseq.variantCodon_6=GTG;refseq.variantCodon_7=GTG;refseq.variantCodon_8=GTG;refseq.variantCodon_9=GTG;set=Intersection GT 1/1 chr10 123539681 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=412;Dels=0.00;HRun=3;HaplotypeScore=6.01;MQ=98.69;MQ0=0;OQ=7100.73;QD=17.23;RankSumP=0.182907;SB=-2402.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1371A>C;refseq.codingCoordStr_2=c.1371A>C;refseq.codonCoord_1=457;refseq.codonCoord_2=457;refseq.end_1=123539681;refseq.end_2=123539681;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1453;refseq.mrnaCoord_2=1453;refseq.name2_1=ATE1;refseq.name2_2=ATE1;refseq.name_1=NM_001001976;refseq.name_2=NM_007041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P457P;refseq.proteinCoordStr_2=p.P457P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=123539681;refseq.start_2=123539681;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr10 123586244 . T C 437.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.71;MQ0=0;OQ=4959.69;QD=38.75;RankSumP=1.00000;SB=-1275.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1236A>G;refseq.codingCoordStr_2=c.1236A>G;refseq.codonCoord_1=412;refseq.codonCoord_2=412;refseq.end_1=123586244;refseq.end_2=123586244;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1318;refseq.mrnaCoord_2=1318;refseq.name2_1=ATE1;refseq.name2_2=ATE1;refseq.name_1=NM_001001976;refseq.name_2=NM_007041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S412S;refseq.proteinCoordStr_2=p.S412S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=123586244;refseq.start_2=123586244;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr10 123663329 . T C 345.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=2.68;MQ=99.00;MQ0=0;OQ=7600.47;QD=41.99;RankSumP=1.00000;SB=-3625.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.303A>G;refseq.codingCoordStr_2=c.303A>G;refseq.codonCoord_1=101;refseq.codonCoord_2=101;refseq.end_1=123663329;refseq.end_2=123663329;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=385;refseq.mrnaCoord_2=385;refseq.name2_1=ATE1;refseq.name2_2=ATE1;refseq.name_1=NM_001001976;refseq.name_2=NM_007041;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L101L;refseq.proteinCoordStr_2=p.L101L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=123663329;refseq.start_2=123663329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr10 123835105 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.89;MQ0=0;OQ=1718.88;QD=13.22;RankSumP=0.291488;SB=-779.65;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.3100G>A;refseq.codonCoord_2=1034;refseq.end_1=123882103;refseq.end_2=123835105;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3460;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name_1=NM_206861;refseq.name_2=NM_206862;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E1034K;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=-2360;refseq.start_1=123800066;refseq.start_2=123835105;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr10 123835312 . T C 132.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.17;MQ0=0;OQ=3000.69;QD=32.97;RankSumP=1.00000;SB=-870.00;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.3307T>C;refseq.codonCoord_2=1103;refseq.end_1=123882103;refseq.end_2=123835312;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3667;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name_1=NM_206861;refseq.name_2=NM_206862;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.W1103R;refseq.referenceAA_2=Trp;refseq.referenceCodon_2=TGG;refseq.spliceDist_2=-2153;refseq.start_1=123800066;refseq.start_2=123835312;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr10 123837219 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=1.19076e-05;SecondBestBaseQ=14;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.5214T>G;refseq.codonCoord_2=1738;refseq.end_1=123882103;refseq.end_2=123837219;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=5574;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name_1=NM_206861;refseq.name_2=NM_206862;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G1738G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=-246;refseq.start_1=123800066;refseq.start_2=123837219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr10 123893123 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=128;Dels=0.00;HRun=2;HaplotypeScore=4.19;MQ=98.66;MQ0=0;OQ=1657.21;QD=12.95;RankSumP=0.123056;SB=-649.05;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.5746G>A;refseq.codonCoord_2=1916;refseq.end_1=123944534;refseq.end_2=123893123;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=6106;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name_1=NM_206861;refseq.name_2=NM_206862;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E1916K;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=47;refseq.start_1=123882250;refseq.start_2=123893123;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr10 123960009 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.313G>A;refseq.codingCoordStr_2=c.313G>A;refseq.codingCoordStr_3=c.517G>A;refseq.codingCoordStr_4=c.6079G>A;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=173;refseq.codonCoord_4=2027;refseq.end_1=123960009;refseq.end_2=123960009;refseq.end_3=123960009;refseq.end_4=123960009;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=648;refseq.mrnaCoord_2=648;refseq.mrnaCoord_3=877;refseq.mrnaCoord_4=6439;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D105N;refseq.proteinCoordStr_2=p.D105N;refseq.proteinCoordStr_3=p.D173N;refseq.proteinCoordStr_4=p.D2027N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.spliceDist_3=108;refseq.spliceDist_4=108;refseq.start_1=123960009;refseq.start_2=123960009;refseq.start_3=123960009;refseq.start_4=123960009;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=FilteredInAll GT 1/0 chr10 123960011 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.315C>A;refseq.codingCoordStr_2=c.315C>A;refseq.codingCoordStr_3=c.519C>A;refseq.codingCoordStr_4=c.6081C>A;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=173;refseq.codonCoord_4=2027;refseq.end_1=123960011;refseq.end_2=123960011;refseq.end_3=123960011;refseq.end_4=123960011;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=650;refseq.mrnaCoord_2=650;refseq.mrnaCoord_3=879;refseq.mrnaCoord_4=6441;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D105E;refseq.proteinCoordStr_2=p.D105E;refseq.proteinCoordStr_3=p.D173E;refseq.proteinCoordStr_4=p.D2027E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=110;refseq.spliceDist_2=110;refseq.spliceDist_3=110;refseq.spliceDist_4=110;refseq.start_1=123960011;refseq.start_2=123960011;refseq.start_3=123960011;refseq.start_4=123960011;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=FilteredInAll GT 1/0 chr10 123960520 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=268.69;QD=12.79;RankSumP=0.165581;SB=-75.89;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.824T>C;refseq.codingCoordStr_2=c.824T>C;refseq.codingCoordStr_3=c.1028T>C;refseq.codingCoordStr_4=c.6590T>C;refseq.codonCoord_1=275;refseq.codonCoord_2=275;refseq.codonCoord_3=343;refseq.codonCoord_4=2197;refseq.end_1=123960520;refseq.end_2=123960520;refseq.end_3=123960520;refseq.end_4=123960520;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1159;refseq.mrnaCoord_2=1159;refseq.mrnaCoord_3=1388;refseq.mrnaCoord_4=6950;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V275A;refseq.proteinCoordStr_2=p.V275A;refseq.proteinCoordStr_3=p.V343A;refseq.proteinCoordStr_4=p.V2197A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=619;refseq.spliceDist_2=619;refseq.spliceDist_3=619;refseq.spliceDist_4=619;refseq.start_1=123960520;refseq.start_2=123960520;refseq.start_3=123960520;refseq.start_4=123960520;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr10 123960559 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.86;MQ0=0;OQ=308.92;QD=11.88;RankSumP=0.510078;SB=-148.57;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.863C>T;refseq.codingCoordStr_2=c.863C>T;refseq.codingCoordStr_3=c.1067C>T;refseq.codingCoordStr_4=c.6629C>T;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.codonCoord_3=356;refseq.codonCoord_4=2210;refseq.end_1=123960559;refseq.end_2=123960559;refseq.end_3=123960559;refseq.end_4=123960559;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1198;refseq.mrnaCoord_2=1198;refseq.mrnaCoord_3=1427;refseq.mrnaCoord_4=6989;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A288V;refseq.proteinCoordStr_2=p.A288V;refseq.proteinCoordStr_3=p.A356V;refseq.proteinCoordStr_4=p.A2210V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-655;refseq.spliceDist_2=-655;refseq.spliceDist_3=-655;refseq.spliceDist_4=-655;refseq.start_1=123960559;refseq.start_2=123960559;refseq.start_3=123960559;refseq.start_4=123960559;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 0/1 chr10 123960712 . T A 151.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.12;MQ0=0;OQ=1396.46;QD=12.93;RankSumP=0.124256;SB=-617.41;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.1016T>A;refseq.codingCoordStr_2=c.1016T>A;refseq.codingCoordStr_3=c.1220T>A;refseq.codingCoordStr_4=c.6782T>A;refseq.codonCoord_1=339;refseq.codonCoord_2=339;refseq.codonCoord_3=407;refseq.codonCoord_4=2261;refseq.end_1=123960712;refseq.end_2=123960712;refseq.end_3=123960712;refseq.end_4=123960712;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1351;refseq.mrnaCoord_2=1351;refseq.mrnaCoord_3=1580;refseq.mrnaCoord_4=7142;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L339H;refseq.proteinCoordStr_2=p.L339H;refseq.proteinCoordStr_3=p.L407H;refseq.proteinCoordStr_4=p.L2261H;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=-502;refseq.spliceDist_2=-502;refseq.spliceDist_3=-502;refseq.spliceDist_4=-502;refseq.start_1=123960712;refseq.start_2=123960712;refseq.start_3=123960712;refseq.start_4=123960712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 1/0 chr10 123999114 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=3.24;MQ=98.91;MQ0=0;OQ=1292.87;QD=16.79;RankSumP=0.352685;SB=-344.98;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.codingCoordStr_1=c.2960G>C;refseq.codingCoordStr_2=c.2870G>C;refseq.codingCoordStr_3=c.3164G>C;refseq.codingCoordStr_4=c.8726G>C;refseq.codonCoord_1=987;refseq.codonCoord_2=957;refseq.codonCoord_3=1055;refseq.codonCoord_4=2909;refseq.end_1=123999114;refseq.end_2=123999114;refseq.end_3=123999114;refseq.end_4=123999114;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3295;refseq.mrnaCoord_2=3205;refseq.mrnaCoord_3=3524;refseq.mrnaCoord_4=9086;refseq.name2_1=TACC2;refseq.name2_2=TACC2;refseq.name2_3=TACC2;refseq.name2_4=TACC2;refseq.name_1=NM_006997;refseq.name_2=NM_206860;refseq.name_3=NM_206861;refseq.name_4=NM_206862;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S987T;refseq.proteinCoordStr_2=p.S957T;refseq.proteinCoordStr_3=p.S1055T;refseq.proteinCoordStr_4=p.S2909T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.spliceDist_4=-56;refseq.start_1=123999114;refseq.start_2=123999114;refseq.start_3=123999114;refseq.start_4=123999114;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 0/1 chr10 124048552 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.704A>G;refseq.codonCoord=235;refseq.end=124048552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_144587;refseq.name2=BTBD16;refseq.positionType=CDS;refseq.proteinCoordStr=p.E235G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=44;refseq.start=124048552;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr10 124173722 . T C 92.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=97.73;MQ0=0;OQ=2153.33;QD=30.33;RankSumP=1.00000;SB=-447.49;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.699T>C;refseq.codingCoordStr_2=c.699T>C;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.end_1=124173722;refseq.end_2=124173722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=822;refseq.mrnaCoord_2=765;refseq.name2_1=PLEKHA1;refseq.name2_2=PLEKHA1;refseq.name_1=NM_001001974;refseq.name_2=NM_021622;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R233R;refseq.proteinCoordStr_2=p.R233R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=124173722;refseq.start_2=124173722;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr10 124179187 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=19.99;MQ=98.61;MQ0=0;OQ=1954.44;QD=7.91;RankSumP=0.218905;SB=-470.77;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.958A>G;refseq.codingCoordStr_2=c.958A>G;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.end_1=124179187;refseq.end_2=124179187;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1081;refseq.mrnaCoord_2=1024;refseq.name2_1=PLEKHA1;refseq.name2_2=PLEKHA1;refseq.name_1=NM_001001974;refseq.name_2=NM_021622;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T320A;refseq.proteinCoordStr_2=p.T320A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=124179187;refseq.start_2=124179187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr10 124447442 . C T 257.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.77;MQ0=0;OQ=17080.05;QD=40.67;RankSumP=1.00000;SB=-6774.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.805G>A;refseq.codonCoord=269;refseq.end=124447442;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_001010912;refseq.name2=C10orf120;refseq.positionType=CDS;refseq.proteinCoordStr=p.A269T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-228;refseq.start=124447442;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr10 124732782 . G A 182.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.48;MQ0=0;OQ=2005.71;QD=20.47;RankSumP=0.410629;SB=-409.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.513G>A;refseq.codonCoord=171;refseq.end=124732782;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_153336;refseq.name2=PSTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=124732782;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr10 124732848 . G A 217.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.95;MQ0=0;OQ=3076.21;QD=16.81;RankSumP=0.271980;SB=-1441.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.579G>A;refseq.codonCoord=193;refseq.end=124732848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_153336;refseq.name2=PSTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R193R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=71;refseq.start=124732848;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr10 124732885 . G C 350.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.94;MQ0=0;OQ=3103.30;QD=18.15;RankSumP=0.396387;SB=-1346.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.616G>C;refseq.codonCoord=206;refseq.end=124732885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_153336;refseq.name2=PSTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.G206R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-92;refseq.start=124732885;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr10 124743559 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.987T>G;refseq.codonCoord=329;refseq.end=124743559;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1286;refseq.name=NM_022466;refseq.name2=IKZF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G329G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-373;refseq.start=124743559;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr10 125416555 . G C 287.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.02;MQ0=0;OQ=2208.58;QD=37.43;RankSumP=1.00000;SB=-828.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.642G>C;refseq.codonCoord=214;refseq.end=125416555;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_153442;refseq.name2=GPR26;refseq.positionType=CDS;refseq.proteinCoordStr=p.L214L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-27;refseq.start=125416555;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr10 125496292 . T C 100.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=4.23;MQ=98.55;MQ0=0;OQ=5613.54;QD=29.24;RankSumP=1.00000;SB=-1979.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2249A>G;refseq.codonCoord=750;refseq.end=125496292;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2574;refseq.name=NM_198148;refseq.name2=CPXM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q750R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=232;refseq.start=125496292;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr10 125511523 . G A 290.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=97.95;MQ0=0;OQ=1808.90;QD=17.23;RankSumP=0.206699;SB=-737.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1632C>T;refseq.codonCoord=544;refseq.end=125511523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1957;refseq.name=NM_198148;refseq.name2=CPXM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D544D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-146;refseq.start=125511523;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr10 125511580 . G A 253.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=98.16;MQ0=0;OQ=1441.58;QD=15.34;RankSumP=0.0100007;SB=-730.22;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1575C>T;refseq.codonCoord=525;refseq.end=125511580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1900;refseq.name=NM_198148;refseq.name2=CPXM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y525Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=96;refseq.start=125511580;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr10 125518038 . G A 166.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=97.88;MQ0=0;OQ=798.50;QD=15.07;RankSumP=0.350864;SB=-173.65;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1293C>T;refseq.codonCoord=431;refseq.end=125518038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_198148;refseq.name2=CPXM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y431Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=125518038;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr10 126162853 . A G 333.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.70;MQ0=0;OQ=2585.12;QD=17.35;RankSumP=0.412605;SB=-1268.59;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.281A>G;refseq.codingCoordStr_2=c.281A>G;refseq.codonCoord_1=94;refseq.codonCoord_2=94;refseq.end_1=126162853;refseq.end_2=126162853;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=372;refseq.name2_1=LHPP;refseq.name2_2=LHPP;refseq.name_1=NM_001167880;refseq.name_2=NM_022126;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q94R;refseq.proteinCoordStr_2=p.Q94R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=126162853;refseq.start_2=126162853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 0/1 chr10 126507979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=1;HaplotypeScore=13.99;MQ=98.88;MQ0=0;OQ=5873.68;QD=20.18;RankSumP=0.316876;SB=-2165.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.606G>A;refseq.codonCoord=202;refseq.end=126507979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_032182;refseq.name2=FAM175B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V202V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=28;refseq.start=126507979;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr10 126621763 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.711T>G;refseq.codonCoord=237;refseq.end=126621763;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_017580;refseq.name2=ZRANB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G237G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-104;refseq.start=126621763;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 126660346 . G A 244.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.74;MQ0=0;OQ=4435.93;QD=18.80;RankSumP=0.424399;SB=-1185.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1506G>A;refseq.codonCoord=502;refseq.end=126660346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1877;refseq.name=NM_017580;refseq.name2=ZRANB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q502Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-43;refseq.start=126660346;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr10 126705144 . A G 70.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.17;MQ0=0;OQ=119.67;QD=17.10;RankSumP=1.00000;SB=-47.96;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.1175T>C;refseq.codonCoord_3=392;refseq.end_1=126717545;refseq.end_2=126717545;refseq.end_3=126705144;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1300;refseq.name2_1=CTBP2;refseq.name2_2=CTBP2;refseq.name2_3=CTBP2;refseq.name_1=NM_001083914;refseq.name_2=NM_001329;refseq.name_3=NM_022802;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L392P;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTG;refseq.spliceDist_3=-504;refseq.start_1=126682062;refseq.start_2=126682062;refseq.start_3=126705144;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCG;set=filterInsoap-gatk GT 1/1 chr10 126705619 . C T 317.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=98.03;MQ0=0;OQ=3622.99;QD=36.60;RankSumP=1.00000;SB=-1313.72;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_3=c.700G>A;refseq.codonCoord_3=234;refseq.end_1=126717545;refseq.end_2=126717545;refseq.end_3=126705619;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=825;refseq.name2_1=CTBP2;refseq.name2_2=CTBP2;refseq.name2_3=CTBP2;refseq.name_1=NM_001083914;refseq.name_2=NM_001329;refseq.name_3=NM_022802;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V234M;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_3=825;refseq.start_1=126682062;refseq.start_2=126682062;refseq.start_3=126705619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Met;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr10 127452515 . A G 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=99.00;MQ0=0;OQ=986.65;QD=28.19;RankSumP=1.00000;SB=-161.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.572T>C;refseq.codonCoord=191;refseq.end=127452515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_147191;refseq.name2=MMP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V191A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-126;refseq.start=127452515;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 127452823 . C T 32.24 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.75;RankSumP=0.833333;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.264G>A;refseq.codonCoord=88;refseq.end=127452823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_147191;refseq.name2=MMP21;refseq.positionType=CDS;refseq.proteinCoordStr=p.A88A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=102;refseq.start=127452823;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr10 127467536 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.689G>C;refseq.codonCoord=230;refseq.end=127467536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_000375;refseq.name2=UROS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R230P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=29;refseq.start=127467536;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr10 127520315 . T C 109.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=11.32;MQ=98.46;MQ0=0;OQ=3041.48;QD=16.99;RankSumP=0.405386;SB=-1016.16;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_2=c.1530A>G;refseq.codingCoordStr_3=c.*397T>C;refseq.codonCoord_2=510;refseq.end_1=127531673;refseq.end_2=127520315;refseq.end_3=127520315;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=2021;refseq.mrnaCoord_3=1299;refseq.name2_1=BCCIP;refseq.name2_2=DHX32;refseq.name2_3=BCCIP;refseq.name_1=NM_016567;refseq.name_2=NM_018180;refseq.name_3=NM_078469;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.A510A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-14;refseq.spliceDist_3=502;refseq.start_1=127519900;refseq.start_2=127520315;refseq.start_3=127520315;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr10 127575211 . C T 26.88 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=95.51;MQ0=0;QD=1.41;RankSumP=0.428571;SB=-35.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.10C>T;refseq.codonCoord=4;refseq.end=127575211;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=114;refseq.name=NM_145235;refseq.name2=FANK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=127575211;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 0/1 chr10 127714768 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=2;HaplotypeScore=19.98;MQ=98.10;MQ0=0;OQ=1520.62;QD=11.10;RankSumP=0.0189788;SB=-600.89;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2475T>C;refseq.codonCoord=825;refseq.end=127714768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2888;refseq.name=NM_003474;refseq.name2=ADAM12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A825A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-64;refseq.start=127714768;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr10 127743378 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=98.67;MQ0=0;OQ=406.00;QD=7.00;RankSumP=0.730301;SB=-148.57;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1605G>A;refseq.codingCoordStr_2=c.1605G>A;refseq.codonCoord_1=535;refseq.codonCoord_2=535;refseq.end_1=127743378;refseq.end_2=127743378;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2018;refseq.mrnaCoord_2=2018;refseq.name2_1=ADAM12;refseq.name2_2=ADAM12;refseq.name_1=NM_003474;refseq.name_2=NM_021641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T535T;refseq.proteinCoordStr_2=p.T535T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=127743378;refseq.start_2=127743378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr10 128009015 . C G 353.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=6.57;MQ=99.00;MQ0=0;OQ=4519.64;QD=17.45;RankSumP=0.0164772;SB=-1692.50;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.142G>C;refseq.codingCoordStr_2=c.142G>C;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=128009015;refseq.end_2=128009015;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=555;refseq.name2_1=ADAM12;refseq.name2_2=ADAM12;refseq.name_1=NM_003474;refseq.name_2=NM_021641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G48R;refseq.proteinCoordStr_2=p.G48R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=128009015;refseq.start_2=128009015;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr10 128192425 . T C 288.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=9.44;MQ=98.55;MQ0=0;OQ=12478.43;QD=39.61;RankSumP=1.00000;SB=-3870.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.96A>G;refseq.codonCoord=32;refseq.end=128192425;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_001004298;refseq.name2=C10orf90;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-19;refseq.start=128192425;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 128864611 . C T 261.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=422.16;QD=35.18;RankSumP=1.00000;SB=-138.67;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_2=c.39G>A;refseq.codonCoord_2=13;refseq.end_1=128936251;refseq.end_2=128864611;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=595;refseq.name2_1=DOCK1;refseq.name2_2=FAM196A;refseq.name_1=NM_001380;refseq.name_2=NM_001039762;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T13T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=44;refseq.start_1=128816029;refseq.start_2=128864611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr10 129240846 . G C 290.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.64;MQ0=0;OQ=4015.02;QD=22.31;RankSumP=0.416245;SB=-1532.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.223G>C;refseq.codonCoord=75;refseq.end=129240846;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_001030013;refseq.name2=NPS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V75L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-80;refseq.start=129240846;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr10 129789568 . T C 346.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=6.26;MQ=98.89;MQ0=0;OQ=6176.15;QD=18.55;RankSumP=0.292730;SB=-2509.08;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.8569A>G;refseq.codingCoordStr_2=c.9649A>G;refseq.codonCoord_1=2857;refseq.codonCoord_2=3217;refseq.end_1=129789568;refseq.end_2=129789568;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8764;refseq.mrnaCoord_2=9844;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K2857E;refseq.proteinCoordStr_2=p.K3217E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=129789568;refseq.start_2=129789568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr10 129789768 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=672;Dels=0.00;HRun=0;HaplotypeScore=18.81;MQ=98.63;MQ0=0;OQ=15757.93;QD=23.45;RankSumP=0.113442;SB=-6658.83;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.8369C>G;refseq.codingCoordStr_2=c.9449C>G;refseq.codonCoord_1=2790;refseq.codonCoord_2=3150;refseq.end_1=129789768;refseq.end_2=129789768;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8564;refseq.mrnaCoord_2=9644;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2790S;refseq.proteinCoordStr_2=p.T3150S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=188;refseq.spliceDist_2=188;refseq.start_1=129789768;refseq.start_2=129789768;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr10 129790848 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=860;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=98.91;MQ0=0;OQ=16733.31;QD=19.46;RankSumP=0.423370;SB=-6100.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.8166G>A;refseq.codingCoordStr_2=c.9246G>A;refseq.codonCoord_1=2722;refseq.codonCoord_2=3082;refseq.end_1=129790848;refseq.end_2=129790848;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8361;refseq.mrnaCoord_2=9441;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2722S;refseq.proteinCoordStr_2=p.S3082S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=129790848;refseq.start_2=129790848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr10 129791057 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.7957C>G;refseq.codingCoordStr_2=c.9037C>G;refseq.codonCoord_1=2653;refseq.codonCoord_2=3013;refseq.end_1=129791057;refseq.end_2=129791057;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8152;refseq.mrnaCoord_2=9232;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R2653G;refseq.proteinCoordStr_2=p.R3013G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-225;refseq.spliceDist_2=-225;refseq.start_1=129791057;refseq.start_2=129791057;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr10 129791491 . G C 147.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=15.77;MQ=98.89;MQ0=0;OQ=12543.49;QD=20.98;RankSumP=0.290765;SB=-4502.56;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.7523C>G;refseq.codingCoordStr_2=c.8603C>G;refseq.codonCoord_1=2508;refseq.codonCoord_2=2868;refseq.end_1=129791491;refseq.end_2=129791491;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7718;refseq.mrnaCoord_2=8798;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2508S;refseq.proteinCoordStr_2=p.T2868S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-659;refseq.spliceDist_2=-659;refseq.start_1=129791491;refseq.start_2=129791491;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr10 129791711 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.7303C>A;refseq.codingCoordStr_2=c.8383C>A;refseq.codonCoord_1=2435;refseq.codonCoord_2=2795;refseq.end_1=129791711;refseq.end_2=129791711;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7498;refseq.mrnaCoord_2=8578;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q2435K;refseq.proteinCoordStr_2=p.Q2795K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-879;refseq.spliceDist_2=-879;refseq.start_1=129791711;refseq.start_2=129791711;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr10 129791737 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=25.65;MQ=98.05;MQ0=0;OQ=3201.58;QD=15.10;RankSumP=0.0899588;SB=-777.23;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.7277G>A;refseq.codingCoordStr_2=c.8357G>A;refseq.codonCoord_1=2426;refseq.codonCoord_2=2786;refseq.end_1=129791737;refseq.end_2=129791737;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7472;refseq.mrnaCoord_2=8552;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R2426Q;refseq.proteinCoordStr_2=p.R2786Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-905;refseq.spliceDist_2=-905;refseq.start_1=129791737;refseq.start_2=129791737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr10 129792271 . G A 325.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=98.72;MQ0=0;OQ=7654.29;QD=19.23;RankSumP=0.0247175;SB=-3095.99;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.6743C>T;refseq.codingCoordStr_2=c.7823C>T;refseq.codonCoord_1=2248;refseq.codonCoord_2=2608;refseq.end_1=129792271;refseq.end_2=129792271;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6938;refseq.mrnaCoord_2=8018;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2248L;refseq.proteinCoordStr_2=p.P2608L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-1439;refseq.spliceDist_2=-1439;refseq.start_1=129792271;refseq.start_2=129792271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr10 129793006 . T C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1445;Dels=0.00;HRun=0;HaplotypeScore=28.35;MQ=97.94;MQ0=1;OQ=29540.78;QD=20.44;RankSumP=0.000688787;SB=-12395.59;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.6008A>G;refseq.codingCoordStr_2=c.7088A>G;refseq.codonCoord_1=2003;refseq.codonCoord_2=2363;refseq.end_1=129793006;refseq.end_2=129793006;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6203;refseq.mrnaCoord_2=7283;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N2003S;refseq.proteinCoordStr_2=p.N2363S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-2174;refseq.spliceDist_2=-2174;refseq.start_1=129793006;refseq.start_2=129793006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/0 chr10 129793455 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1047;Dels=0.00;HRun=0;HaplotypeScore=23.99;MQ=92.73;MQ0=26;OQ=17940.43;QD=17.14;RankSumP=0.335973;SB=-6429.02;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.5559T>C;refseq.codingCoordStr_2=c.6639T>C;refseq.codonCoord_1=1853;refseq.codonCoord_2=2213;refseq.end_1=129793455;refseq.end_2=129793455;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5754;refseq.mrnaCoord_2=6834;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1853H;refseq.proteinCoordStr_2=p.H2213H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-2623;refseq.spliceDist_2=-2623;refseq.start_1=129793455;refseq.start_2=129793455;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr10 129794907 . G A 337.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.53;MQ0=0;OQ=4273.07;QD=19.16;RankSumP=0.432742;SB=-1301.32;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.4107C>T;refseq.codingCoordStr_2=c.5187C>T;refseq.codonCoord_1=1369;refseq.codonCoord_2=1729;refseq.end_1=129794907;refseq.end_2=129794907;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4302;refseq.mrnaCoord_2=5382;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1369N;refseq.proteinCoordStr_2=p.N1729N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=2771;refseq.spliceDist_2=2771;refseq.start_1=129794907;refseq.start_2=129794907;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr10 129795886 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1207;Dels=0.00;HRun=0;HaplotypeScore=30.12;MQ=98.87;MQ0=0;OQ=21669.29;QD=17.95;RankSumP=0.0978494;SB=-8503.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.3128A>T;refseq.codingCoordStr_2=c.4208A>T;refseq.codonCoord_1=1043;refseq.codonCoord_2=1403;refseq.end_1=129795886;refseq.end_2=129795886;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3323;refseq.mrnaCoord_2=4403;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1043V;refseq.proteinCoordStr_2=p.E1403V;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1792;refseq.spliceDist_2=1792;refseq.start_1=129795886;refseq.start_2=129795886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr10 129796970 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1336;Dels=0.00;HRun=0;HaplotypeScore=36.00;MQ=98.85;MQ0=0;OQ=27779.73;QD=20.79;RankSumP=0.0474185;SB=-10197.57;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.2044G>A;refseq.codingCoordStr_2=c.3124G>A;refseq.codonCoord_1=682;refseq.codonCoord_2=1042;refseq.end_1=129796970;refseq.end_2=129796970;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2239;refseq.mrnaCoord_2=3319;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G682S;refseq.proteinCoordStr_2=p.G1042S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=708;refseq.spliceDist_2=708;refseq.start_1=129796970;refseq.start_2=129796970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr10 129797600 . G A 211.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=98.73;MQ0=0;OQ=9654.40;QD=19.19;RankSumP=0.188995;SB=-2917.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.1414C>T;refseq.codingCoordStr_2=c.2494C>T;refseq.codonCoord_1=472;refseq.codonCoord_2=832;refseq.end_1=129797600;refseq.end_2=129797600;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1609;refseq.mrnaCoord_2=2689;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R472W;refseq.proteinCoordStr_2=p.R832W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=129797600;refseq.start_2=129797600;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 1/0 chr10 129807550 . T C 141.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.91;MQ0=0;OQ=1927.02;QD=13.38;RankSumP=0.429492;SB=-672.18;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.311A>G;refseq.codingCoordStr_2=c.311A>G;refseq.codonCoord_1=104;refseq.codonCoord_2=104;refseq.end_1=129807550;refseq.end_2=129807550;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=506;refseq.mrnaCoord_2=506;refseq.name2_1=MKI67;refseq.name2_2=MKI67;refseq.name_1=NM_001145966;refseq.name_2=NM_002417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N104S;refseq.proteinCoordStr_2=p.N104S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=129807550;refseq.start_2=129807550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr10 133636576 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=712;Dels=0.00;HRun=1;HaplotypeScore=5.20;MQ=97.94;MQ0=3;OQ=12798.14;QD=17.97;RankSumP=0.286993;SB=-5311.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=133636576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_004052;refseq.name2=BNIP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R78R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=37;refseq.start=133636576;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr10 133863980 . G A 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=24.45;MQ=98.92;MQ0=0;OQ=6948.29;QD=31.44;RankSumP=1.00000;SB=-3108.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.942G>A;refseq.codonCoord=314;refseq.end=133863980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1096;refseq.name=NM_006426;refseq.name2=DPYSL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A314A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-27;refseq.start=133863980;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 133865537 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1208T>G;refseq.codonCoord=403;refseq.end=133865537;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_006426;refseq.name2=DPYSL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V403G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-74;refseq.start=133865537;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr10 133867285 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=5.12;MQ=97.96;MQ0=0;OQ=1082.30;QD=15.69;RankSumP=0.402919;SB=-267.32;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1491A>G;refseq.codonCoord=497;refseq.end=133867285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_006426;refseq.name2=DPYSL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G497G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=30;refseq.start=133867285;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr10 133886183 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.62;MQ0=0;OQ=732.84;QD=7.11;RankSumP=0.238341;SB=-309.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1203T>C;refseq.codonCoord=401;refseq.end=133886183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_173575;refseq.name2=STK32C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R401R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-49;refseq.start=133886183;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr10 134011507 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.58;MQ0=0;OQ=1113.19;QD=11.13;RankSumP=0.104589;SB=-544.47;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_2=c.583C>T;refseq.codingCoordStr_3=c.583C>T;refseq.codingCoordStr_4=c.583C>T;refseq.codingCoordStr_5=c.583C>T;refseq.codonCoord_2=195;refseq.codonCoord_3=195;refseq.codonCoord_4=195;refseq.codonCoord_5=195;refseq.end_1=134011507;refseq.end_2=134011507;refseq.end_3=134011507;refseq.end_4=134011507;refseq.end_5=134011507;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=931;refseq.mrnaCoord_3=778;refseq.mrnaCoord_4=778;refseq.mrnaCoord_5=778;refseq.name2_1=LRRC27;refseq.name2_2=LRRC27;refseq.name2_3=LRRC27;refseq.name2_4=LRRC27;refseq.name2_5=LRRC27;refseq.name_1=NR_026559;refseq.name_2=NM_001143757;refseq.name_3=NM_001143758;refseq.name_4=NM_001143759;refseq.name_5=NM_030626;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.R195C;refseq.proteinCoordStr_3=p.R195C;refseq.proteinCoordStr_4=p.R195C;refseq.proteinCoordStr_5=p.R195C;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.referenceCodon_5=CGT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.spliceDist_5=30;refseq.start_1=134011507;refseq.start_2=134011507;refseq.start_3=134011507;refseq.start_4=134011507;refseq.start_5=134011507;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;refseq.variantCodon_5=TGT;set=Intersection GT 0/1 chr10 134011623 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.55;MQ0=0;OQ=633.00;QD=13.76;RankSumP=0.308423;SB=-93.95;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.chr_4=chr10;refseq.chr_5=chr10;refseq.codingCoordStr_2=c.699A>G;refseq.codingCoordStr_3=c.699A>G;refseq.codingCoordStr_4=c.699A>G;refseq.codingCoordStr_5=c.699A>G;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.codonCoord_4=233;refseq.codonCoord_5=233;refseq.end_1=134011623;refseq.end_2=134011623;refseq.end_3=134011623;refseq.end_4=134011623;refseq.end_5=134011623;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=1047;refseq.mrnaCoord_3=894;refseq.mrnaCoord_4=894;refseq.mrnaCoord_5=894;refseq.name2_1=LRRC27;refseq.name2_2=LRRC27;refseq.name2_3=LRRC27;refseq.name2_4=LRRC27;refseq.name2_5=LRRC27;refseq.name_1=NR_026559;refseq.name_2=NM_001143757;refseq.name_3=NM_001143758;refseq.name_4=NM_001143759;refseq.name_5=NM_030626;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.P233P;refseq.proteinCoordStr_3=p.P233P;refseq.proteinCoordStr_4=p.P233P;refseq.proteinCoordStr_5=p.P233P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.spliceDist_1=146;refseq.spliceDist_2=146;refseq.spliceDist_3=146;refseq.spliceDist_4=146;refseq.spliceDist_5=146;refseq.start_1=134011623;refseq.start_2=134011623;refseq.start_3=134011623;refseq.start_4=134011623;refseq.start_5=134011623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;set=Intersection GT 0/1 chr10 134068259 . C T 247.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.49;MQ0=0;OQ=486.71;QD=34.76;RankSumP=1.00000;SB=-53.56;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.265C>T;refseq.codingCoordStr_2=c.265C>T;refseq.codonCoord_1=89;refseq.codonCoord_2=89;refseq.end_1=134068259;refseq.end_2=134068259;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=294;refseq.mrnaCoord_2=294;refseq.name2_1=PWWP2B;refseq.name2_2=PWWP2B;refseq.name_1=NM_001098637;refseq.name_2=NM_138499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R89C;refseq.proteinCoordStr_2=p.R89C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=140;refseq.spliceDist_2=140;refseq.start_1=134068259;refseq.start_2=134068259;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr10 134068286 . C G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=92.14;MQ0=0;OQ=164.79;QD=27.46;RankSumP=1.00000;SB=-95.91;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.292C>G;refseq.codingCoordStr_2=c.292C>G;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.end_1=134068286;refseq.end_2=134068286;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=321;refseq.name2_1=PWWP2B;refseq.name2_2=PWWP2B;refseq.name_1=NM_001098637;refseq.name_2=NM_138499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R98G;refseq.proteinCoordStr_2=p.R98G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=167;refseq.spliceDist_2=167;refseq.start_1=134068286;refseq.start_2=134068286;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/1 chr10 134068570 . C T 26.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.57;MQ0=0;QD=4.39;SB=-33.64;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.576C>T;refseq.codingCoordStr_2=c.576C>T;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=134068570;refseq.end_2=134068570;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=605;refseq.mrnaCoord_2=605;refseq.name2_1=PWWP2B;refseq.name2_2=PWWP2B;refseq.name_1=NM_001098637;refseq.name_2=NM_138499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P192P;refseq.proteinCoordStr_2=p.P192P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=451;refseq.spliceDist_2=451;refseq.start_1=134068570;refseq.start_2=134068570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:4,2:5:-7.43,-1.51,-10.06:59.17 chr10 134309378 . A G 137.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=4.10;MQ=98.72;MQ0=0;OQ=2108.93;QD=14.15;RankSumP=0.253264;SB=-551.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.134A>G;refseq.codonCoord=45;refseq.end=134309378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_005539;refseq.name2=INPP5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K45R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=17;refseq.start=134309378;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr10 134448618 . A G 169.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.59;MQ0=0;OQ=2404.26;QD=32.94;RankSumP=1.00000;SB=-778.87;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.626T>C;refseq.codonCoord=209;refseq.end=134448618;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_177400;refseq.name2=NKX6-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=47;refseq.start=134448618;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr10 134472398 . T C 113.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=3.72;MQ=97.95;MQ0=0;OQ=823.27;QD=15.83;RankSumP=0.720464;SB=-330.99;SecondBestBaseQ=29;set=Intersection GT 1/0 chr10 134473949 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.84;MQ=97.04;MQ0=0;OQ=523.88;QD=11.91;RankSumP=0.281925;SB=-273.39;SecondBestBaseQ=29;set=Intersection GT 1/0 chr10 134496978 . C T 102.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=11.63;MQ=98.38;MQ0=0;OQ=2666.71;QD=13.07;RankSumP=0.394483;SB=-447.96;SecondBestBaseQ=24;set=Intersection GT 0/1 chr10 134498269 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=2.68;MQ=97.87;MQ0=0;OQ=817.08;QD=14.33;RankSumP=0.682695;SB=-357.44;SecondBestBaseQ=31;set=Intersection GT 0/1 chr10 134509565 . C G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.000180378;SecondBestBaseQ=7;set=FilteredInAll GT 1/0 chr10 134593102 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0832494;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1063C>T;refseq.codonCoord=355;refseq.end=134593102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_173572;refseq.name2=C10orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.R355W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=197;refseq.start=134593102;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr10 134598321 . C T 187.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=1;HaplotypeScore=9.62;MQ=98.92;MQ0=0;OQ=6245.56;QD=20.48;RankSumP=0.373970;SB=-2145.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.791G>A;refseq.codonCoord=264;refseq.end=134598321;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_173572;refseq.name2=C10orf93;refseq.positionType=CDS;refseq.proteinCoordStr=p.S264N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=36;refseq.start=134598321;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr10 134792156 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=98.58;MQ0=0;OQ=2360.97;QD=26.83;RankSumP=1.00000;SB=-441.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.834A>G;refseq.codonCoord=278;refseq.end=134792156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_001083909;refseq.name2=GPR123;refseq.positionType=CDS;refseq.proteinCoordStr=p.S278S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=334;refseq.start=134792156;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr10 134792309 . C T 116.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=7.40;MQ=98.70;MQ0=0;OQ=2180.03;QD=17.03;RankSumP=0.239948;SB=-129.14;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.987C>T;refseq.codonCoord=329;refseq.end=134792309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1423;refseq.name=NM_001083909;refseq.name2=GPR123;refseq.positionType=CDS;refseq.proteinCoordStr=p.P329P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=487;refseq.start=134792309;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr10 134823985 . G A 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.70;MQ0=0;OQ=504.75;QD=25.24;RankSumP=1.00000;SB=-242.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=134823985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=25;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=25;refseq.start=134823985;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 134847470 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=4.25;MQ=96.15;MQ0=0;OQ=1272.00;QD=13.11;RankSumP=0.281013;SB=-424.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.612C>T;refseq.codonCoord=204;refseq.end=134847470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F204F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-14;refseq.start=134847470;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr10 134849592 . G C 129.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=585.06;QD=41.79;RankSumP=1.00000;SB=-205.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.750G>C;refseq.codonCoord=250;refseq.end=134849592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T250T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=125;refseq.start=134849592;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr10 134850138 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=957.70;QD=16.23;RankSumP=0.560560;SB=-346.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1296T>C;refseq.codonCoord=432;refseq.end=134850138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A432A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-31;refseq.start=134850138;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr10 134850149 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=722.14;QD=14.74;RankSumP=0.246360;SB=-195.70;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.1307A>G;refseq.codonCoord=436;refseq.end=134850149;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1308;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E436G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-20;refseq.start=134850149;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr10 134862152 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=341.21;QD=9.48;RankSumP=0.105336;SB=-135.63;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2150T>C;refseq.codonCoord=717;refseq.end=134862152;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2151;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L717P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=81;refseq.start=134862152;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr10 134862419 . T A 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.41;MQ0=0;OQ=255.89;QD=25.59;RankSumP=1.00000;SB=-50.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.2417T>A;refseq.codonCoord=806;refseq.end=134862419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2418;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V806D;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-342;refseq.start=134862419;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 1/1 chr10 134862420 . T C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.78;MQ0=0;OQ=241.54;QD=26.84;RankSumP=1.00000;SB=-48.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2418T>C;refseq.codonCoord=806;refseq.end=134862420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2419;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V806V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-341;refseq.start=134862420;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/1 chr10 134862642 . T C 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=95.85;MQ0=0;OQ=73.77;QD=3.21;RankSumP=0.0311418;SB=5.04;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2640T>C;refseq.codonCoord=880;refseq.end=134862642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2641;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D880D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-119;refseq.start=134862642;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr10 134877599 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.4660A>C;refseq.codonCoord=1554;refseq.end=134877599;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4661;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1554P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-18;refseq.start=134877599;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr10 134882366 . A G 109.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=98.63;MQ0=0;OQ=1331.94;QD=14.48;RankSumP=0.350180;SB=-448.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.4719A>G;refseq.codonCoord=1573;refseq.end=134882366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4720;refseq.name=NM_152643;refseq.name2=KNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1573K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=42;refseq.start=134882366;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr10 134926587 . T C 339.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.75;MQ0=0;OQ=2220.11;QD=35.81;RankSumP=1.00000;SB=-975.40;SecondBestBaseQ=0;refseq.chr=chr10;refseq.codingCoordStr=c.*142A>G;refseq.end=134926587;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=2457;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=utr3;refseq.spliceDist=141;refseq.start=134926587;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr10 134932336 . A G 242.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=97.88;MQ0=0;OQ=5450.59;QD=35.39;RankSumP=1.00000;SB=-1879.27;SecondBestBaseQ=2;refseq.chr=chr10;refseq.end=134932928;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=intron;refseq.start=134931571;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr10 134935311 . C T 121.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=10.74;MQ=97.53;MQ0=0;OQ=4860.52;QD=35.74;RankSumP=1.00000;SB=-1785.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1095G>A;refseq.codonCoord=365;refseq.end=134935311;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A365A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=134935311;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr10 134935416 . A G 309.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=98.03;MQ0=0;OQ=4161.09;QD=37.15;RankSumP=1.00000;SB=-1825.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.990T>C;refseq.codonCoord=330;refseq.end=134935416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1076;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C330C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=33;refseq.start=134935416;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr10 134935744 . G A 307.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=264.33;QD=37.76;RankSumP=1.00000;SB=-93.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.900C>T;refseq.codonCoord=300;refseq.end=134935744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T300T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=25;refseq.start=134935744;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 1/1 chr10 134937332 . C T 20.36 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.07;SB=-29.51;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.307G>A;refseq.codonCoord=103;refseq.end=134937332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D103N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=134937332;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3,2:5:-6.82,-1.51,-12.14:53.15 chr10 134937511 . G A 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.18;MQ=97.72;MQ0=0;OQ=2192.17;QD=32.24;RankSumP=1.00000;SB=-732.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.240C>T;refseq.codonCoord=80;refseq.end=134937511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G80G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=13;refseq.start=134937511;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr10 134939025 . A G 43.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=274.76;QD=24.98;RankSumP=1.00000;SB=-155.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.103T>C;refseq.codonCoord=35;refseq.end=134939025;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_001164489;refseq.name2=ADAM8;refseq.positionType=CDS;refseq.proteinCoordStr=p.W35R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-48;refseq.start=134939025;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr10 134947424 . A G 189.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=10.16;MQ=98.39;MQ0=0;OQ=12346.13;QD=37.64;RankSumP=1.00000;SB=-4772.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.2097T>C;refseq.codonCoord=699;refseq.end=134947424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2454;refseq.name=NM_006659;refseq.name2=TUBGCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F699F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-49;refseq.start=134947424;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr10 134948662 . G A 97.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=8.86;MQ=96.96;MQ0=0;OQ=3151.35;QD=33.52;RankSumP=1.00000;SB=-789.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1941C>T;refseq.codonCoord=647;refseq.end=134948662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_006659;refseq.name2=TUBGCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y647Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=46;refseq.start=134948662;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr10 134975293 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.638C>G;refseq.codonCoord=213;refseq.end=134975293;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_145806;refseq.name2=ZNF511;refseq.positionType=CDS;refseq.proteinCoordStr=p.A213G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-43;refseq.start=134975293;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr10 135015780 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=11.82;MQ=98.46;MQ0=0;OQ=6076.17;QD=30.08;RankSumP=1.00000;SB=-2461.38;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.codingCoordStr_1=c.275A>G;refseq.codingCoordStr_2=c.302A>G;refseq.codonCoord_1=92;refseq.codonCoord_2=101;refseq.end_1=135015780;refseq.end_2=135015780;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=353;refseq.mrnaCoord_2=380;refseq.name2_1=PRAP1;refseq.name2_2=PRAP1;refseq.name_1=NM_001145201;refseq.name_2=NM_145202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H92R;refseq.proteinCoordStr_2=p.H101R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=135015780;refseq.start_2=135015780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr10 135030420 . A G 99.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=98.94;MQ0=0;OQ=2297.71;QD=33.79;RankSumP=1.00000;SB=-852.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.582T>C;refseq.codonCoord=194;refseq.end=135030420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_004092;refseq.name2=ECHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T194T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-38;refseq.start=135030420;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr10 135034116 . G A 335.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.57;MQ0=0;OQ=2976.32;QD=37.67;RankSumP=1.00000;SB=-340.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.224C>T;refseq.codonCoord=75;refseq.end=135034116;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_004092;refseq.name2=ECHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T75I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-63;refseq.start=135034116;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr10 135036796 . A G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=95.76;MQ0=0;OQ=204.22;QD=25.53;RankSumP=1.00000;SB=-128.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.32T>C;refseq.codonCoord=11;refseq.end=135036796;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=103;refseq.name=NM_004092;refseq.name2=ECHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V11A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-57;refseq.start=135036796;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr10 135054940 . C G 174.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.79;MQ0=0;OQ=3699.90;QD=43.02;RankSumP=1.00000;SB=-145.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.1527C>G;refseq.codingCoordStr_2=c.*138C>G;refseq.codingCoordStr_3=c.1369C>G;refseq.codonCoord_1=509;refseq.codonCoord_3=457;refseq.end_1=135054940;refseq.end_2=135054940;refseq.end_3=135054940;refseq.frame_1=2;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1607;refseq.mrnaCoord_2=1196;refseq.mrnaCoord_3=1449;refseq.name2_1=PAOX;refseq.name2_2=PAOX;refseq.name2_3=PAOX;refseq.name_1=NM_152911;refseq.name_2=NM_207127;refseq.name_3=NM_207128;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P509P;refseq.proteinCoordStr_3=p.Q457E;refseq.referenceAA_1=Pro;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CCC;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.start_1=135054940;refseq.start_2=135054940;refseq.start_3=135054940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_3=Glu;refseq.variantCodon_1=CCG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr10 135054999 . C G 313.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=658.49;QD=38.73;RankSumP=1.00000;SB=-88.82;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.*50C>G;refseq.codingCoordStr_2=c.*197C>G;refseq.codingCoordStr_3=c.1428C>G;refseq.codonCoord_3=476;refseq.end_1=135054999;refseq.end_2=135054999;refseq.end_3=135054999;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1666;refseq.mrnaCoord_2=1255;refseq.mrnaCoord_3=1508;refseq.name2_1=PAOX;refseq.name2_2=PAOX;refseq.name2_3=PAOX;refseq.name_1=NM_152911;refseq.name_2=NM_207127;refseq.name_3=NM_207128;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P476P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-190;refseq.spliceDist_2=-190;refseq.spliceDist_3=-190;refseq.start_1=135054999;refseq.start_2=135054999;refseq.start_3=135054999;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr10 135083531 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=14.06;MQ=98.33;MQ0=0;OQ=11785.59;QD=29.10;RankSumP=1.00000;SB=-4104.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr10;refseq.codingCoordStr=c.877A>G;refseq.codonCoord=293;refseq.end=135083531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_138384;refseq.name2=MTG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I293V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=12;refseq.start=135083531;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr10 135197387 . T C 412.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.66;MQ0=0;OQ=4962.14;QD=36.22;RankSumP=1.00000;SB=-1324.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.963T>C;refseq.codonCoord=321;refseq.end=135197387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=996;refseq.name=NM_000773;refseq.name2=CYP2E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I321I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=135197387;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr10 135201352 . T C 460.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.50;MQ0=0;OQ=5140.16;QD=40.79;RankSumP=1.00000;SB=-2296.88;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr10;refseq.codingCoordStr=c.1263T>C;refseq.codonCoord=421;refseq.end=135201352;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_000773;refseq.name2=CYP2E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F421F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-35;refseq.start=135201352;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr10 135219522 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=201;Dels=0.00;HRun=2;HaplotypeScore=22.45;MQ=98.69;MQ0=0;OQ=2086.72;QD=10.38;RankSumP=0.491445;SB=-874.12;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.548A>G;refseq.codingCoordStr_2=c.548A>G;refseq.codingCoordStr_3=c.440A>G;refseq.codonCoord_1=183;refseq.codonCoord_2=183;refseq.codonCoord_3=147;refseq.end_1=135219522;refseq.end_2=135219522;refseq.end_3=135219522;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=653;refseq.mrnaCoord_2=653;refseq.mrnaCoord_3=576;refseq.name2_1=SYCE1;refseq.name2_2=SYCE1;refseq.name2_3=SYCE1;refseq.name_1=NM_001143763;refseq.name_2=NM_001143764;refseq.name_3=NM_130784;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K183R;refseq.proteinCoordStr_2=p.K183R;refseq.proteinCoordStr_3=p.K147R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=135219522;refseq.start_2=135219522;refseq.start_3=135219522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/0 chr10 135220623 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.74;MQ0=0;OQ=2419.45;QD=19.36;RankSumP=0.435922;SB=-904.32;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.402G>A;refseq.codingCoordStr_2=c.402G>A;refseq.codingCoordStr_3=c.294G>A;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.codonCoord_3=98;refseq.end_1=135220623;refseq.end_2=135220623;refseq.end_3=135220623;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=507;refseq.mrnaCoord_2=507;refseq.mrnaCoord_3=430;refseq.name2_1=SYCE1;refseq.name2_2=SYCE1;refseq.name2_3=SYCE1;refseq.name_1=NM_001143763;refseq.name_2=NM_001143764;refseq.name_3=NM_130784;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K134K;refseq.proteinCoordStr_2=p.K134K;refseq.proteinCoordStr_3=p.K98K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=135220623;refseq.start_2=135220623;refseq.start_3=135220623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr10 135220629 . C A 118.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=1857.98;QD=16.16;RankSumP=0.251027;SB=-613.59;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr10;refseq.chr_2=chr10;refseq.chr_3=chr10;refseq.codingCoordStr_1=c.396G>T;refseq.codingCoordStr_2=c.396G>T;refseq.codingCoordStr_3=c.288G>T;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.codonCoord_3=96;refseq.end_1=135220629;refseq.end_2=135220629;refseq.end_3=135220629;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=501;refseq.mrnaCoord_2=501;refseq.mrnaCoord_3=424;refseq.name2_1=SYCE1;refseq.name2_2=SYCE1;refseq.name2_3=SYCE1;refseq.name_1=NM_001143763;refseq.name_2=NM_001143764;refseq.name_3=NM_130784;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E132D;refseq.proteinCoordStr_2=p.E132D;refseq.proteinCoordStr_3=p.E96D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=135220629;refseq.start_2=135220629;refseq.start_3=135220629;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr11 183112 . C T 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=5.53;MQ=57.32;MQ0=21;OQ=253.27;QD=2.26;RankSumP=0.323735;SB=2.47;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.13C>T;refseq.codonCoord=5;refseq.end=183112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=33;refseq.name=NM_145651;refseq.name2=SCGB1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=33;refseq.start=183112;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr11 183863 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.181342;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.207T>C;refseq.codonCoord=69;refseq.end=183863;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_145651;refseq.name2=SCGB1C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C69C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-49;refseq.start=183863;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr11 188245 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.357A>C;refseq.codonCoord=119;refseq.end=188245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_053280;refseq.name2=ODF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=47;refseq.start=188245;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 223067 . C T 341.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=10.95;MQ=98.62;MQ0=0;OQ=7793.84;QD=20.40;RankSumP=0.381205;SB=-2778.32;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.196G>A;refseq.codingCoordStr_2=c.622G>A;refseq.codonCoord_1=66;refseq.codonCoord_2=208;refseq.end_1=223067;refseq.end_2=223067;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=510;refseq.mrnaCoord_2=656;refseq.name2_1=SIRT3;refseq.name2_2=SIRT3;refseq.name_1=NM_001017524;refseq.name_2=NM_012239;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V66I;refseq.proteinCoordStr_2=p.V208I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.start_1=223067;refseq.start_2=223067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr11 223212 . C A 115.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=1160.40;QD=16.82;RankSumP=0.333855;SB=-201.22;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.51G>T;refseq.codingCoordStr_2=c.477G>T;refseq.codonCoord_1=17;refseq.codonCoord_2=159;refseq.end_1=223212;refseq.end_2=223212;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=511;refseq.name2_1=SIRT3;refseq.name2_2=SIRT3;refseq.name_1=NM_001017524;refseq.name_2=NM_012239;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S17S;refseq.proteinCoordStr_2=p.S159S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=223212;refseq.start_2=223212;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr11 227087 . A G 440 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=4389.88;QD=38.17;RankSumP=1.00000;SB=-1779.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.38A>G;refseq.codingCoordStr_2=c.38A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.end_1=227087;refseq.end_2=227087;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=280;refseq.mrnaCoord_2=280;refseq.name2_1=PSMD13;refseq.name2_2=PSMD13;refseq.name_1=NM_002817;refseq.name_2=NM_175932;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N13S;refseq.proteinCoordStr_2=p.N13S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=227087;refseq.start_2=227087;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr11 234167 rs1128320 C T 322.04 PASS AC=2;AF=1.00;AN=2;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.18;MQ0=0;OQ=6010.02;QD=42.32;SB=-2548.79;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.216C>T;refseq.codingCoordStr_2=c.222C>T;refseq.codonCoord_1=72;refseq.codonCoord_2=74;refseq.end_1=234167;refseq.end_2=234167;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=458;refseq.mrnaCoord_2=464;refseq.name2_1=PSMD13;refseq.name2_2=PSMD13;refseq.name_1=NM_002817;refseq.name_2=NM_175932;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N72N;refseq.proteinCoordStr_2=p.N74N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=7;refseq.spliceDist_2=-50;refseq.spliceInfo_1=splice-acceptor_7;refseq.start_1=234167;refseq.start_2=234167;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=gatk GT:AD:DP:GL:GQ 1/1:0,142:141:-600.00,-42.46,-0.02:99 chr11 234171 . T C 440.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=89.69;MQ0=0;OQ=6117.82;QD=41.90;RankSumP=1.00000;SB=-2918.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.220T>C;refseq.codingCoordStr_2=c.226T>C;refseq.codonCoord_1=74;refseq.codonCoord_2=76;refseq.end_1=234171;refseq.end_2=234171;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=468;refseq.name2_1=PSMD13;refseq.name2_2=PSMD13;refseq.name_1=NM_002817;refseq.name_2=NM_175932;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L74L;refseq.proteinCoordStr_2=p.L76L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=11;refseq.spliceDist_2=-46;refseq.start_1=234171;refseq.start_2=234171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=filterInsoap-gatk GT 1/1 chr11 234197 . T C 397.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.51;MQ0=0;OQ=6401.77;QD=39.04;RankSumP=1.00000;SB=-2889.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.246T>C;refseq.codingCoordStr_2=c.252T>C;refseq.codonCoord_1=82;refseq.codonCoord_2=84;refseq.end_1=234197;refseq.end_2=234197;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=494;refseq.name2_1=PSMD13;refseq.name2_2=PSMD13;refseq.name_1=NM_002817;refseq.name_2=NM_175932;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H82H;refseq.proteinCoordStr_2=p.H84H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=234197;refseq.start_2=234197;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr11 270221 . A C 43.49 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.61;MQ0=0;QD=21.75;RankSumP=1.00000;SB=-48.57;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.487A>C;refseq.codonCoord=163;refseq.end=270221;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M163L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=138;refseq.start=270221;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr11 270464 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.49;MQ=98.72;MQ0=0;OQ=1357.95;QD=26.63;RankSumP=0.0542557;SB=-607.35;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.730C>G;refseq.codonCoord=244;refseq.end=270464;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=730;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P244A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=381;refseq.start=270464;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 270673 . C T 80.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=94.69;MQ0=0;OQ=129.00;QD=21.50;RankSumP=1.00000;SB=-53.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.939C>T;refseq.codonCoord=313;refseq.end=270673;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S313S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=590;refseq.start=270673;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/1 chr11 270816 . A T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=398;Dels=0.00;HRun=3;HaplotypeScore=12.10;MQ=98.12;MQ0=0;OQ=14050.54;QD=35.30;RankSumP=1.00000;SB=-4119.18;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1082A>T;refseq.codonCoord=361;refseq.end=270816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y361F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=733;refseq.start=270816;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 270817 . T C 163.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=11.78;MQ=98.13;MQ0=0;OQ=14985.81;QD=37.00;RankSumP=1.00000;SB=-4680.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1083T>C;refseq.codonCoord=361;refseq.end=270817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y361Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=734;refseq.start=270817;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr11 271344 . A C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=5.14192e-05;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1610A>C;refseq.codonCoord=537;refseq.end=271344;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H537P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-496;refseq.start=271344;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 274538 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=3;HaplotypeScore=2.06;MQ=98.68;MQ0=0;OQ=4878.71;QD=36.14;RankSumP=1.00000;SB=-2326.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2436T>C;refseq.codonCoord=812;refseq.end=274538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2436;refseq.name=NM_138329;refseq.name2=NLRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P812P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=64;refseq.start=274538;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 280816 . A G 110.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=6.62;MQ=98.74;MQ0=0;OQ=2055.85;QD=29.37;RankSumP=1.00000;SB=-965.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.609A>G;refseq.codonCoord=203;refseq.end=280816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_025092;refseq.name2=ATHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A203A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=139;refseq.start=280816;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 283188 . T C 238.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=99.00;MQ0=0;OQ=2136.94;QD=14.84;RankSumP=0.237913;SB=-1001.85;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1296T>C;refseq.codonCoord=432;refseq.end=283188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_025092;refseq.name2=ATHL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H432H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=26;refseq.start=283188;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 289411 . C G 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.19;MQ0=0;OQ=62.35;QD=4.45;RankSumP=0.0435190;SB=-31.40;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.80G>C;refseq.codonCoord=27;refseq.end=289411;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=116;refseq.name=NM_001025295;refseq.name2=IFITM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G27A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-107;refseq.start=289411;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 1/0 chr11 289467 . C T 17.36 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=99.00;MQ0=0;QD=1.45;SB=-29.60;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=289467;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=60;refseq.name=NM_001025295;refseq.name2=IFITM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E8E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=60;refseq.start=289467;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:11:-8.32,-3.31,-36.78:50.11 chr11 289471 . C T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=12;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=137.17;QD=11.43;RankSumP=0.719066;SB=-69.07;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.20G>A;refseq.codonCoord=7;refseq.end=289471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_001025295;refseq.name2=IFITM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R7H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=56;refseq.start=289471;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr11 298290 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=11.83;MQ=91.22;MQ0=8;OQ=2038.10;QD=10.90;RankSumP=0.00620759;SB=-496.87;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.98T>C;refseq.codonCoord=33;refseq.end=298290;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_006435;refseq.name2=IFITM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-149;refseq.start=298290;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/0 chr11 304207 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=461;Dels=0.00;HRun=4;HaplotypeScore=15.38;MQ=98.29;MQ0=0;OQ=18005.11;QD=39.06;RankSumP=1.00000;SB=-7230.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.37C>G;refseq.codonCoord=13;refseq.end=304207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_003641;refseq.name2=IFITM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P13A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-150;refseq.start=304207;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 386915 . C T 187.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.54;MQ0=0;OQ=637.67;QD=35.43;RankSumP=1.00000;SB=-281.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.414C>T;refseq.codonCoord=138;refseq.end=386915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N138N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=102;refseq.start=386915;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr11 390109 . A G 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=606.84;QD=30.34;RankSumP=1.00000;SB=-155.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1416A>G;refseq.codonCoord=472;refseq.end=390109;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1492;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A472A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-33;refseq.start=390109;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 393147 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00859473;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1807T>G;refseq.codonCoord=603;refseq.end=393147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1883;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W603G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=70;refseq.start=393147;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 393725 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=260;Dels=0.00;HRun=0;HaplotypeScore=13.83;MQ=98.81;MQ0=0;OQ=4216.08;QD=16.22;RankSumP=0.0328712;SB=-1450.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2031C>T;refseq.codonCoord=677;refseq.end=393725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2107;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G677G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-47;refseq.start=393725;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr11 393980 . G A 241.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=983.62;QD=33.92;RankSumP=1.00000;SB=-210.77;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2115G>A;refseq.codonCoord=705;refseq.end=393980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2191;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P705P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=38;refseq.start=393980;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr11 394317 . C T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=2;HaplotypeScore=5.36;MQ=98.29;MQ0=0;OQ=10174.83;QD=39.59;RankSumP=1.00000;SB=-2961.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2352C>T;refseq.codonCoord=784;refseq.end=394317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2428;refseq.name=NM_007183;refseq.name2=PKP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F784F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=394317;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 395953 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1176G>C;refseq.codingCoordStr_2=c.1176G>C;refseq.codingCoordStr_3=c.1176G>C;refseq.codonCoord_1=392;refseq.codonCoord_2=392;refseq.codonCoord_3=392;refseq.end_1=395953;refseq.end_2=395953;refseq.end_3=395953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1433;refseq.mrnaCoord_2=1506;refseq.mrnaCoord_3=1402;refseq.name2_1=SIGIRR;refseq.name2_2=SIGIRR;refseq.name2_3=SIGIRR;refseq.name_1=NM_001135053;refseq.name_2=NM_001135054;refseq.name_3=NM_021805;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S392S;refseq.proteinCoordStr_2=p.S392S;refseq.proteinCoordStr_3=p.S392S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.start_1=395953;refseq.start_2=395953;refseq.start_3=395953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 1/0 chr11 396043 . G A 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=593.59;QD=39.57;RankSumP=1.00000;SB=-55.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1086C>T;refseq.codingCoordStr_2=c.1086C>T;refseq.codingCoordStr_3=c.1086C>T;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.codonCoord_3=362;refseq.end_1=396043;refseq.end_2=396043;refseq.end_3=396043;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=1416;refseq.mrnaCoord_3=1312;refseq.name2_1=SIGIRR;refseq.name2_2=SIGIRR;refseq.name2_3=SIGIRR;refseq.name_1=NM_001135053;refseq.name_2=NM_001135054;refseq.name_3=NM_021805;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V362V;refseq.proteinCoordStr_2=p.V362V;refseq.proteinCoordStr_3=p.V362V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=396043;refseq.start_2=396043;refseq.start_3=396043;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr11 396473 . A C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.01;MQ0=0;OQ=1155.90;QD=32.11;RankSumP=1.00000;SB=-479.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.945T>G;refseq.codingCoordStr_2=c.945T>G;refseq.codingCoordStr_3=c.945T>G;refseq.codonCoord_1=315;refseq.codonCoord_2=315;refseq.codonCoord_3=315;refseq.end_1=396473;refseq.end_2=396473;refseq.end_3=396473;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1202;refseq.mrnaCoord_2=1275;refseq.mrnaCoord_3=1171;refseq.name2_1=SIGIRR;refseq.name2_2=SIGIRR;refseq.name2_3=SIGIRR;refseq.name_1=NM_001135053;refseq.name_2=NM_001135054;refseq.name_3=NM_021805;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P315P;refseq.proteinCoordStr_2=p.P315P;refseq.proteinCoordStr_3=p.P315P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.start_1=396473;refseq.start_2=396473;refseq.start_3=396473;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr11 396483 . T C 90.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.13;MQ0=0;OQ=1316.20;QD=32.10;RankSumP=1.00000;SB=-563.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.935A>G;refseq.codingCoordStr_2=c.935A>G;refseq.codingCoordStr_3=c.935A>G;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.codonCoord_3=312;refseq.end_1=396483;refseq.end_2=396483;refseq.end_3=396483;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1192;refseq.mrnaCoord_2=1265;refseq.mrnaCoord_3=1161;refseq.name2_1=SIGIRR;refseq.name2_2=SIGIRR;refseq.name2_3=SIGIRR;refseq.name_1=NM_001135053;refseq.name_2=NM_001135054;refseq.name_3=NM_021805;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q312R;refseq.proteinCoordStr_2=p.Q312R;refseq.proteinCoordStr_3=p.Q312R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=396483;refseq.start_2=396483;refseq.start_3=396483;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr11 418385 . A G 332.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.66;MQ0=0;OQ=2392.01;QD=34.17;RankSumP=1.00000;SB=-982.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1195T>C;refseq.codonCoord=399;refseq.end=418385;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1280;refseq.name=NM_001012302;refseq.name2=ANO9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C399R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=418385;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 418489 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.61;MQ0=0;OQ=1909.91;QD=9.79;RankSumP=0.184352;SB=-582.39;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1171A>G;refseq.codonCoord=391;refseq.end=418489;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_001012302;refseq.name2=ANO9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I391V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-15;refseq.start=418489;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr11 423387 . A G 184.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=99.00;MQ0=0;OQ=3579.25;QD=35.09;RankSumP=1.00000;SB=-1417.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.277T>C;refseq.codonCoord=93;refseq.end=423387;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_001012302;refseq.name2=ANO9;refseq.positionType=CDS;refseq.proteinCoordStr=p.F93L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=73;refseq.start=423387;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr11 539959 . C T 124.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=8.99;MQ=98.50;MQ0=0;OQ=5298.78;QD=31.35;RankSumP=1.00000;SB=-1242.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.384C>T;refseq.codonCoord=128;refseq.end=539959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=889;refseq.name=NM_198075;refseq.name2=LRRC56;refseq.positionType=CDS;refseq.proteinCoordStr=p.L128L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-40;refseq.start=539959;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr11 541753 . G A 242.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.69;MQ0=0;OQ=1802.16;QD=37.54;RankSumP=1.00000;SB=-372.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.899G>A;refseq.codonCoord=300;refseq.end=541753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1404;refseq.name=NM_198075;refseq.name2=LRRC56;refseq.positionType=CDS;refseq.proteinCoordStr=p.R300H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-75;refseq.start=541753;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr11 544166 . C G 168.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.58;MQ0=0;OQ=1345.43;QD=40.77;RankSumP=1.00000;SB=-546.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1519C>G;refseq.codonCoord=507;refseq.end=544166;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2024;refseq.name=NM_198075;refseq.name2=LRRC56;refseq.positionType=CDS;refseq.proteinCoordStr=p.R507G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=204;refseq.start=544166;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 544214 . G C 422.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.33;MQ0=0;OQ=3082.95;QD=41.11;RankSumP=1.00000;SB=-1279.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1567G>C;refseq.codonCoord=523;refseq.end=544214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2072;refseq.name=NM_198075;refseq.name2=LRRC56;refseq.positionType=CDS;refseq.proteinCoordStr=p.D523H;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=252;refseq.start=544214;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr11 551853 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.85A>C;refseq.codingCoordStr_2=c.85A>C;refseq.codingCoordStr_3=c.85A>C;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.codonCoord_3=29;refseq.end_1=551853;refseq.end_2=551853;refseq.end_3=551853;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=120;refseq.mrnaCoord_3=120;refseq.name2_1=RASSF7;refseq.name2_2=RASSF7;refseq.name2_3=RASSF7;refseq.name_1=NM_001143993;refseq.name_2=NM_001143994;refseq.name_3=NM_003475;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T29P;refseq.proteinCoordStr_2=p.T29P;refseq.proteinCoordStr_3=p.T29P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=551853;refseq.start_2=551853;refseq.start_3=551853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr11 604864 . C T 314.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=309.85;QD=38.73;RankSumP=1.00000;SB=-93.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.327G>A;refseq.codingCoordStr_2=c.327G>A;refseq.codingCoordStr_3=c.366G>A;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=122;refseq.end_1=604864;refseq.end_2=604864;refseq.end_3=604864;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=697;refseq.mrnaCoord_3=776;refseq.name2_1=IRF7;refseq.name2_2=IRF7;refseq.name2_3=IRF7;refseq.name_1=NM_001572;refseq.name_2=NM_004029;refseq.name_3=NM_004031;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R109R;refseq.proteinCoordStr_2=p.R109R;refseq.proteinCoordStr_3=p.R122R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.start_1=604864;refseq.start_2=604864;refseq.start_3=604864;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=filterInsoap-gatk GT 1/1 chr11 607537 . C T 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=40.36;MQ=97.34;MQ0=0;OQ=4493.54;QD=24.55;RankSumP=1.00000;SB=-1900.76;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.2334G>A;refseq.codingCoordStr_2=c.2352G>A;refseq.codingCoordStr_3=c.1770G>A;refseq.codonCoord_1=778;refseq.codonCoord_2=784;refseq.codonCoord_3=590;refseq.end_1=607537;refseq.end_2=607537;refseq.end_3=607537;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2499;refseq.mrnaCoord_2=2517;refseq.mrnaCoord_3=1935;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_001171968;refseq.name_2=NM_021924;refseq.name_3=NM_031264;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P778P;refseq.proteinCoordStr_2=p.P784P;refseq.proteinCoordStr_3=p.P590P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=234;refseq.spliceDist_2=234;refseq.spliceDist_3=234;refseq.start_1=607537;refseq.start_2=607537;refseq.start_3=607537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr11 607967 . C G 269.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=94.96;MQ0=0;OQ=1818.94;QD=38.70;RankSumP=1.00000;SB=-765.49;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.2087G>C;refseq.codingCoordStr_2=c.2105G>C;refseq.codingCoordStr_3=c.1523G>C;refseq.codonCoord_1=696;refseq.codonCoord_2=702;refseq.codonCoord_3=508;refseq.end_1=607967;refseq.end_2=607967;refseq.end_3=607967;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2252;refseq.mrnaCoord_2=2270;refseq.mrnaCoord_3=1688;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_001171968;refseq.name_2=NM_021924;refseq.name_3=NM_031264;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C696S;refseq.proteinCoordStr_2=p.C702S;refseq.proteinCoordStr_3=p.C508S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.spliceDist_3=-14;refseq.start_1=607967;refseq.start_2=607967;refseq.start_3=607967;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr11 608780 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1761A>C;refseq.codingCoordStr_3=c.1779A>C;refseq.codonCoord_2=587;refseq.codonCoord_3=593;refseq.end_1=609295;refseq.end_2=608780;refseq.end_3=608780;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1926;refseq.mrnaCoord_3=1944;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_031264;refseq.name_2=NM_001171968;refseq.name_3=NM_021924;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q587H;refseq.proteinCoordStr_3=p.Q593H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_2=-182;refseq.spliceDist_3=-182;refseq.start_1=608122;refseq.start_2=608780;refseq.start_3=608780;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT 1/0 chr11 608873 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.28908e-09;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1668A>C;refseq.codingCoordStr_3=c.1686A>C;refseq.codonCoord_2=556;refseq.codonCoord_3=562;refseq.end_1=609295;refseq.end_2=608873;refseq.end_3=608873;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1833;refseq.mrnaCoord_3=1851;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_031264;refseq.name_2=NM_001171968;refseq.name_3=NM_021924;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Q556H;refseq.proteinCoordStr_3=p.Q562H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_2=-275;refseq.spliceDist_3=-275;refseq.start_1=608122;refseq.start_2=608873;refseq.start_3=608873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT 1/0 chr11 608998 . G A 21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=92.99;MQ0=0;OQ=796.89;QD=27.48;RankSumP=1.00000;SB=-49.67;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1543C>T;refseq.codingCoordStr_3=c.1561C>T;refseq.codonCoord_2=515;refseq.codonCoord_3=521;refseq.end_1=609295;refseq.end_2=608998;refseq.end_3=608998;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1708;refseq.mrnaCoord_3=1726;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_031264;refseq.name_2=NM_001171968;refseq.name_3=NM_021924;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P515S;refseq.proteinCoordStr_3=p.P521S;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_2=165;refseq.spliceDist_3=183;refseq.start_1=608122;refseq.start_2=608998;refseq.start_3=608998;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr11 609789 . T G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.34;MQ0=0;OQ=1495.30;QD=31.81;RankSumP=1.00000;SB=-316.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1071A>C;refseq.codingCoordStr_2=c.1071A>C;refseq.codingCoordStr_3=c.1071A>C;refseq.codonCoord_1=357;refseq.codonCoord_2=357;refseq.codonCoord_3=357;refseq.end_1=609789;refseq.end_2=609789;refseq.end_3=609789;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1236;refseq.mrnaCoord_2=1236;refseq.mrnaCoord_3=1236;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_001171968;refseq.name_2=NM_021924;refseq.name_3=NM_031264;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R357S;refseq.proteinCoordStr_2=p.R357S;refseq.proteinCoordStr_3=p.R357S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.spliceDist_3=93;refseq.start_1=609789;refseq.start_2=609789;refseq.start_3=609789;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr11 614674 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=168;Dels=0.00;HRun=0;HaplotypeScore=17.31;MQ=97.94;MQ0=0;OQ=2248.83;QD=13.39;RankSumP=0.0516916;SB=-1136.01;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.144G>A;refseq.codingCoordStr_2=c.144G>A;refseq.codingCoordStr_3=c.144G>A;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.codonCoord_3=48;refseq.end_1=614674;refseq.end_2=614674;refseq.end_3=614674;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=309;refseq.mrnaCoord_2=309;refseq.mrnaCoord_3=309;refseq.name2_1=CDHR5;refseq.name2_2=CDHR5;refseq.name2_3=CDHR5;refseq.name_1=NM_001171968;refseq.name_2=NM_021924;refseq.name_3=NM_031264;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P48P;refseq.proteinCoordStr_2=p.P48P;refseq.proteinCoordStr_3=p.P48P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=614674;refseq.start_2=614674;refseq.start_3=614674;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr11 710197 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=97.77;MQ0=0;OQ=727.27;QD=11.19;RankSumP=0.313059;SB=-320.83;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.301C>T;refseq.codonCoord=101;refseq.end=710197;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_022772;refseq.name2=EPS8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L101L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-27;refseq.start=710197;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr11 711570 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=97.80;MQ0=0;OQ=1462.35;QD=15.90;RankSumP=0.262021;SB=-217.90;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.774C>T;refseq.codonCoord=258;refseq.end=711570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1021;refseq.name=NM_022772;refseq.name2=EPS8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I258I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=711570;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr11 761034 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=97.57;MQ0=0;OQ=737.00;QD=12.49;RankSumP=0.415969;SB=-211.53;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.615T>C;refseq.codonCoord=205;refseq.end=761034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_182612;refseq.name2=PDDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T205T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-42;refseq.start=761034;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr11 762490 . G A 216.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.24;MQ0=0;OQ=1422.73;QD=14.98;RankSumP=0.411083;SB=-554.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.387C>T;refseq.codonCoord=129;refseq.end=762490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_182612;refseq.name2=PDDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A129A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=32;refseq.start=762490;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr11 791092 . G A 130.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.17;MQ0=0;OQ=656.50;QD=16.83;RankSumP=0.471217;SB=-320.82;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1221C>T;refseq.codingCoordStr_2=c.1659C>T;refseq.codingCoordStr_3=c.1659C>T;refseq.codonCoord_1=407;refseq.codonCoord_2=553;refseq.codonCoord_3=553;refseq.end_1=791092;refseq.end_2=791092;refseq.end_3=791092;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1861;refseq.mrnaCoord_2=1801;refseq.mrnaCoord_3=1735;refseq.name2_1=LRDD;refseq.name2_2=LRDD;refseq.name2_3=LRDD;refseq.name_1=NM_018494;refseq.name_2=NM_145886;refseq.name_3=NM_145887;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H407H;refseq.proteinCoordStr_2=p.H553H;refseq.proteinCoordStr_3=p.H553H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=791092;refseq.start_2=791092;refseq.start_3=791092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr11 792379 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=6.86;MQ=97.73;MQ0=0;OQ=609.58;QD=11.50;RankSumP=0.631639;SB=-223.39;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.554A>G;refseq.codingCoordStr_2=c.992A>G;refseq.codingCoordStr_3=c.992A>G;refseq.codonCoord_1=185;refseq.codonCoord_2=331;refseq.codonCoord_3=331;refseq.end_1=792379;refseq.end_2=792379;refseq.end_3=792379;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1194;refseq.mrnaCoord_2=1134;refseq.mrnaCoord_3=1068;refseq.name2_1=LRDD;refseq.name2_2=LRDD;refseq.name2_3=LRDD;refseq.name_1=NM_018494;refseq.name_2=NM_145886;refseq.name_3=NM_145887;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q185R;refseq.proteinCoordStr_2=p.Q331R;refseq.proteinCoordStr_3=p.Q331R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=792379;refseq.start_2=792379;refseq.start_3=792379;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 1/0 chr11 794212 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=97.82;MQ0=0;OQ=919.73;QD=18.39;RankSumP=0.00700968;SB=-388.23;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.-322G>T;refseq.codingCoordStr_2=c.177G>T;refseq.codingCoordStr_3=c.177G>T;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=794212;refseq.end_2=794212;refseq.end_3=794212;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=319;refseq.mrnaCoord_2=319;refseq.mrnaCoord_3=253;refseq.name2_1=LRDD;refseq.name2_2=LRDD;refseq.name2_3=LRDD;refseq.name_1=NM_018494;refseq.name_2=NM_145886;refseq.name_3=NM_145887;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L59L;refseq.proteinCoordStr_3=p.L59L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-119;refseq.spliceDist_2=-119;refseq.spliceDist_3=-119;refseq.start_1=794212;refseq.start_2=794212;refseq.start_3=794212;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=filterInsoap-gatk GT 1/0 chr11 812425 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.515A>C;refseq.codonCoord=172;refseq.end=812425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_020376;refseq.name2=PNPLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N172T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=29;refseq.start=812425;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 813729 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=7.60;MQ=97.15;MQ0=0;OQ=440.13;QD=12.94;RankSumP=0.500000;SB=-140.60;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.793C>T;refseq.codonCoord=265;refseq.end=813729;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_020376;refseq.name2=PNPLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P265S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=36;refseq.start=813729;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr11 813809 . C G 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.23;MQ0=0;OQ=276.40;QD=7.68;RankSumP=0.269461;SB=-103.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.873C>G;refseq.codonCoord=291;refseq.end=813809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1075;refseq.name=NM_020376;refseq.name2=PNPLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P291P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-47;refseq.start=813809;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr11 818916 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=12.36;MQ=97.90;MQ0=0;OQ=547.91;QD=9.45;RankSumP=0.0260016;SB=-250.50;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.230G>A;refseq.codonCoord=77;refseq.end=818916;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_173584;refseq.name2=EFCAB4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R77Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-48;refseq.start=818916;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr11 820044 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=307.24;QD=19.20;RankSumP=0.160633;SB=-75.29;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.517G>A;refseq.codonCoord=173;refseq.end=820044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_173584;refseq.name2=EFCAB4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G173S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=59;refseq.start=820044;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr11 820120 . A G 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=9;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=85.45;MQ0=0;OQ=160.00;QD=17.78;RankSumP=0.585714;SB=-101.84;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.593A>G;refseq.codonCoord=198;refseq.end=820120;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_173584;refseq.name2=EFCAB4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q198R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-13;refseq.start=820120;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr11 852652 . T C 252.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=98.16;MQ0=0;OQ=6603.36;QD=38.84;RankSumP=1.00000;SB=-3194.48;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_7=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.codingCoordStr_1=c.166T>C;refseq.codingCoordStr_2=c.166T>C;refseq.codingCoordStr_3=c.166T>C;refseq.codingCoordStr_4=c.166T>C;refseq.codingCoordStr_5=c.166T>C;refseq.codingCoordStr_6=c.-27T>C;refseq.codingCoordStr_7=c.166T>C;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.codonCoord_4=56;refseq.codonCoord_5=56;refseq.codonCoord_7=56;refseq.end_1=852652;refseq.end_2=852652;refseq.end_3=852652;refseq.end_4=852652;refseq.end_5=852652;refseq.end_6=852652;refseq.end_7=852652;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_7=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=389;refseq.mrnaCoord_2=388;refseq.mrnaCoord_3=393;refseq.mrnaCoord_4=425;refseq.mrnaCoord_5=275;refseq.mrnaCoord_6=295;refseq.mrnaCoord_7=375;refseq.name2_1=TSPAN4;refseq.name2_2=TSPAN4;refseq.name2_3=TSPAN4;refseq.name2_4=TSPAN4;refseq.name2_5=TSPAN4;refseq.name2_6=TSPAN4;refseq.name2_7=TSPAN4;refseq.name_1=NM_001025234;refseq.name_2=NM_001025235;refseq.name_3=NM_001025236;refseq.name_4=NM_001025237;refseq.name_5=NM_001025238;refseq.name_6=NM_001025239;refseq.name_7=NM_003271;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=utr5;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L56L;refseq.proteinCoordStr_2=p.L56L;refseq.proteinCoordStr_3=p.L56L;refseq.proteinCoordStr_4=p.L56L;refseq.proteinCoordStr_5=p.L56L;refseq.proteinCoordStr_7=p.L56L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_7=TTG;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.spliceDist_4=-90;refseq.spliceDist_5=-90;refseq.spliceDist_6=-90;refseq.spliceDist_7=-90;refseq.start_1=852652;refseq.start_2=852652;refseq.start_3=852652;refseq.start_4=852652;refseq.start_5=852652;refseq.start_6=852652;refseq.start_7=852652;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_7=CTG;set=Intersection GT 1/1 chr11 860446 . G A 153.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.26;MQ0=0;OQ=1106.12;QD=14.37;RankSumP=0.359555;SB=-511.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_1=c.1013C>T;refseq.codingCoordStr_2=c.1013C>T;refseq.codingCoordStr_3=c.1088C>T;refseq.codingCoordStr_4=c.920C>T;refseq.codingCoordStr_5=c.1013C>T;refseq.codonCoord_1=338;refseq.codonCoord_2=338;refseq.codonCoord_3=363;refseq.codonCoord_4=307;refseq.codonCoord_5=338;refseq.end_1=860446;refseq.end_2=860446;refseq.end_3=860446;refseq.end_4=860446;refseq.end_5=860446;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1370;refseq.mrnaCoord_3=1231;refseq.mrnaCoord_4=1063;refseq.mrnaCoord_5=1156;refseq.name2_1=CHID1;refseq.name2_2=CHID1;refseq.name2_3=CHID1;refseq.name2_4=CHID1;refseq.name2_5=CHID1;refseq.name_1=NM_001142674;refseq.name_2=NM_001142675;refseq.name_3=NM_001142676;refseq.name_4=NM_001142677;refseq.name_5=NM_023947;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A338V;refseq.proteinCoordStr_2=p.A338V;refseq.proteinCoordStr_3=p.A363V;refseq.proteinCoordStr_4=p.A307V;refseq.proteinCoordStr_5=p.A338V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.spliceDist_5=-28;refseq.start_1=860446;refseq.start_2=860446;refseq.start_3=860446;refseq.start_4=860446;refseq.start_5=860446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;set=Intersection GT 1/0 chr11 893070 . G C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=3.15;MQ=99.00;MQ0=0;OQ=7322.93;QD=48.18;RankSumP=1.00000;SB=-3249.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_1=c.153C>G;refseq.codingCoordStr_2=c.153C>G;refseq.codingCoordStr_3=c.228C>G;refseq.codingCoordStr_4=c.153C>G;refseq.codingCoordStr_5=c.153C>G;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.codonCoord_3=76;refseq.codonCoord_4=51;refseq.codonCoord_5=51;refseq.end_1=893070;refseq.end_2=893070;refseq.end_3=893070;refseq.end_4=893070;refseq.end_5=893070;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=400;refseq.mrnaCoord_2=510;refseq.mrnaCoord_3=371;refseq.mrnaCoord_4=296;refseq.mrnaCoord_5=296;refseq.name2_1=CHID1;refseq.name2_2=CHID1;refseq.name2_3=CHID1;refseq.name2_4=CHID1;refseq.name2_5=CHID1;refseq.name_1=NM_001142674;refseq.name_2=NM_001142675;refseq.name_3=NM_001142676;refseq.name_4=NM_001142677;refseq.name_5=NM_023947;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V51V;refseq.proteinCoordStr_2=p.V51V;refseq.proteinCoordStr_3=p.V76V;refseq.proteinCoordStr_4=p.V51V;refseq.proteinCoordStr_5=p.V51V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.spliceDist_4=42;refseq.spliceDist_5=42;refseq.start_1=893070;refseq.start_2=893070;refseq.start_3=893070;refseq.start_4=893070;refseq.start_5=893070;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/1 chr11 1266532 . C T 242.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.07;MQ0=0;OQ=2226.19;QD=20.81;RankSumP=0.279732;SB=-685.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.417G>A;refseq.codonCoord=139;refseq.end=1266532;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_019009;refseq.name2=TOLLIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P139P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=51;refseq.start=1266532;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 1273536 . A C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.0179820;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.98T>G;refseq.codonCoord=33;refseq.end=1273536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_019009;refseq.name2=TOLLIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=65;refseq.start=1273536;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 1418719 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=3.71294e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398A>C;refseq.codonCoord=133;refseq.end=1418719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_003957;refseq.name2=BRSK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H133P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-16;refseq.start=1418719;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 1562705 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.487275;SecondBestBaseQ=23;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.351T>G;refseq.codonCoord_3=117;refseq.end_1=1742040;refseq.end_2=1575043;refseq.end_3=1562705;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=385;refseq.name2_1=MOB2;refseq.name2_2=LOC338651;refseq.name2_3=KRTAP5-1;refseq.name_1=NM_053005;refseq.name_2=NR_021489;refseq.name_3=NM_001005922;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G117G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGT;refseq.spliceDist_3=385;refseq.start_1=1520219;refseq.start_2=1550885;refseq.start_3=1562705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=soap GT 0/1 chr11 1562714 . T G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.0973959;SecondBestBaseQ=25;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.342A>C;refseq.codonCoord_3=114;refseq.end_1=1742040;refseq.end_2=1575043;refseq.end_3=1562714;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=376;refseq.name2_1=MOB2;refseq.name2_2=LOC338651;refseq.name2_3=KRTAP5-1;refseq.name_1=NM_053005;refseq.name_2=NR_021489;refseq.name_3=NM_001005922;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G114G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_3=376;refseq.start_1=1520219;refseq.start_2=1550885;refseq.start_3=1562714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=soap GT 1/0 chr11 1575778 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=16.03;MQ=81.49;MQ0=13;OQ=1266.58;QD=7.41;RankSumP=0.0642749;SB=53.12;SecondBestBaseQ=27;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.279C>T;refseq.codonCoord_3=93;refseq.end_1=1742040;refseq.end_2=1575778;refseq.end_3=1575778;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1053;refseq.mrnaCoord_3=323;refseq.name2_1=MOB2;refseq.name2_2=LOC338651;refseq.name2_3=KRTAP5-2;refseq.name_1=NM_053005;refseq.name_2=NR_021489;refseq.name_3=NM_001004325;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G93G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGC;refseq.spliceDist_2=725;refseq.spliceDist_3=323;refseq.start_1=1520219;refseq.start_2=1575778;refseq.start_3=1575778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr11 1575999 . T C 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0362162;SecondBestBaseQ=22;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.58A>G;refseq.codonCoord_3=20;refseq.end_1=1742040;refseq.end_2=1575999;refseq.end_3=1575999;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1274;refseq.mrnaCoord_3=102;refseq.name2_1=MOB2;refseq.name2_2=LOC338651;refseq.name2_3=KRTAP5-2;refseq.name_1=NM_053005;refseq.name_2=NR_021489;refseq.name_3=NM_001004325;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S20G;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGC;refseq.spliceDist_2=946;refseq.spliceDist_3=102;refseq.start_1=1520219;refseq.start_2=1575999;refseq.start_3=1575999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=soap GT 1/0 chr11 1585541 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=10.44;MQ=67.76;MQ0=43;OQ=4331.92;QD=14.44;RankSumP=0.335548;SB=-1693.11;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.651C>T;refseq.codonCoord_2=217;refseq.end_1=1742040;refseq.end_2=1585541;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=729;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-3;refseq.name_1=NM_053005;refseq.name_2=NM_001012708;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S217S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-171;refseq.start_1=1520219;refseq.start_2=1585541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr11 1585568 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=28.91;MQ=56.84;MQ0=72;OQ=2481.94;QD=7.57;RankSumP=0.176454;SB=-1066.86;SecondBestBaseQ=23;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.624C>T;refseq.codonCoord_2=208;refseq.end_1=1742040;refseq.end_2=1585568;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=702;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-3;refseq.name_1=NM_053005;refseq.name_2=NM_001012708;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G208G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=-198;refseq.start_1=1520219;refseq.start_2=1585568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr11 1585619 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.0188454;SecondBestBaseQ=19;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.573A>G;refseq.codonCoord_2=191;refseq.end_1=1742040;refseq.end_2=1585619;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=651;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-3;refseq.name_1=NM_053005;refseq.name_2=NM_001012708;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K191K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-249;refseq.start_1=1520219;refseq.start_2=1585619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=soap GT 1/0 chr11 1585622 . G A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.295417;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.570C>T;refseq.codonCoord_2=190;refseq.end_1=1742040;refseq.end_2=1585622;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=648;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-3;refseq.name_1=NM_053005;refseq.name_2=NM_001012708;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C190C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=-252;refseq.start_1=1520219;refseq.start_2=1585622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=soap GT 1/0 chr11 1586181 . G C 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.168499;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.11C>G;refseq.codonCoord_2=4;refseq.end_1=1742040;refseq.end_2=1586181;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=89;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-3;refseq.name_1=NM_053005;refseq.name_2=NM_001012708;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S4C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=89;refseq.start_1=1520219;refseq.start_2=1586181;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=soap GT 0/1 chr11 1607664 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.18C>G;refseq.codonCoord_2=6;refseq.end_1=1742040;refseq.end_2=1607664;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=56;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C6W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=56;refseq.start_1=1520219;refseq.start_2=1607664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr11 1607665 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.19T>G;refseq.codonCoord_2=7;refseq.end_1=1742040;refseq.end_2=1607665;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=57;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S7A;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=57;refseq.start_1=1520219;refseq.start_2=1607665;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 1607696 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=130;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=70.74;MQ0=5;OQ=1509.43;QD=11.61;RankSumP=0.00150220;SB=-6.99;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.50G>T;refseq.codonCoord_2=17;refseq.end_1=1742040;refseq.end_2=1607696;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=88;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R17L;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=88;refseq.start_1=1520219;refseq.start_2=1607696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTT;set=filterInsoap-gatk GT 0/1 chr11 1607737 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=52;Dels=0.00;HRun=1;HaplotypeScore=9.19;MQ=63.49;MQ0=4;OQ=351.49;QD=6.76;RankSumP=0.576189;SB=8.05;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.91T>C;refseq.codonCoord_2=31;refseq.end_1=1742040;refseq.end_2=1607737;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=129;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C31R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=129;refseq.start_1=1520219;refseq.start_2=1607737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr11 1607745 . T C 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=45;Dels=0.00;HRun=1;HaplotypeScore=8.81;MQ=61.15;MQ0=4;OQ=377.44;QD=8.39;RankSumP=0.691740;SB=-107.99;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.99T>C;refseq.codonCoord_2=33;refseq.end_1=1742040;refseq.end_2=1607745;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=137;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S33S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=137;refseq.start_1=1520219;refseq.start_2=1607745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr11 1607775 . A G 22.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=32;Dels=0.00;HRun=2;HaplotypeScore=12.80;MQ=72.72;MQ0=0;QD=0.71;RankSumP=0.0517379;SB=-15.30;SecondBestBaseQ=14;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.129A>G;refseq.codonCoord_2=43;refseq.end_1=1742040;refseq.end_2=1607775;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=167;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G43G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=167;refseq.start_1=1520219;refseq.start_2=1607775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=soap-filterIngatk GT 0/1 chr11 1607804 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=94;Dels=0.00;HRun=3;HaplotypeScore=11.12;MQ=83.44;MQ0=3;OQ=1150.89;QD=12.24;RankSumP=0.408532;SB=-195.20;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.158C>G;refseq.codonCoord_2=53;refseq.end_1=1742040;refseq.end_2=1607804;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=196;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A53G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=196;refseq.start_1=1520219;refseq.start_2=1607804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=soap-filterIngatk GT 1/0 chr11 1608108 . C G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.503188;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.462C>G;refseq.codonCoord_2=154;refseq.end_1=1742040;refseq.end_2=1608108;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=500;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C154W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=500;refseq.start_1=1520219;refseq.start_2=1608108;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr11 1608116 rs61867581 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=43.44;MQ=74.86;MQ0=0;OQ=120.05;QD=1.11;SB=13.29;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.470C>G;refseq.codonCoord_2=157;refseq.end_1=1742040;refseq.end_2=1608116;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=508;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S157C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=508;refseq.start_1=1520219;refseq.start_2=1608116;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:72,36:36:-26.14,-10.85,-137.51:99 chr11 1608126 rs61867582 C T 0.29 PASS AC=1;AF=0.50;AN=2;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=22.70;MQ=73.36;MQ0=2;OQ=452.47;QD=3.33;SB=-135.53;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.480C>T;refseq.codonCoord_2=160;refseq.end_1=1742040;refseq.end_2=1608126;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=518;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C160C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=518;refseq.start_1=1520219;refseq.start_2=1608126;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=gatk GT:AD:DP:GL:GQ 0/1:82,47:59:-66.30,-17.77,-167.08:99 chr11 1608131 . C A 0.05 PASS AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=20.95;MQ=73.69;MQ0=2;OQ=482.49;QD=3.33;SB=-106.65;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.485C>A;refseq.codonCoord_2=162;refseq.end_1=1742040;refseq.end_2=1608131;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=523;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P162H;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=523;refseq.start_1=1520219;refseq.start_2=1608131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:97,47:69:-72.31,-20.78,-196.11:99 chr11 1608171 . G A 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=231;Dels=0.00;HRun=1;HaplotypeScore=24.65;MQ=76.65;MQ0=6;OQ=1591.04;QD=6.89;RankSumP=0.00291283;SB=-140.57;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.525G>A;refseq.codonCoord_2=175;refseq.end_1=1742040;refseq.end_2=1608171;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=563;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q175Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=563;refseq.start_1=1520219;refseq.start_2=1608171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=FilteredInAll GT 1/0 chr11 1608189 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=291;Dels=0.00;HRun=2;HaplotypeScore=93.75;MQ=81.31;MQ0=6;OQ=2180.81;QD=7.49;RankSumP=0.374926;SB=-110.48;SecondBestBaseQ=25;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.543T>C;refseq.codonCoord_2=181;refseq.end_1=1742040;refseq.end_2=1608189;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=581;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P181P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=-547;refseq.start_1=1520219;refseq.start_2=1608189;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/0 chr11 1608191 . A G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=121.25;MQ=81.98;MQ0=6;OQ=342.94;QD=1.12;SB=89.28;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.545A>G;refseq.codonCoord_2=182;refseq.end_1=1742040;refseq.end_2=1608191;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=583;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y182C;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=-545;refseq.start_1=1520219;refseq.start_2=1608191;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:213,33:215:-131.84,-94.26,-770.83:99 chr11 1608201 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=326;Dels=0.00;HRun=1;HaplotypeScore=93.03;MQ=84.65;MQ0=4;OQ=307.03;QD=0.94;RankSumP=0.295700;SB=86.26;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.555G>A;refseq.codonCoord_2=185;refseq.end_1=1742040;refseq.end_2=1608201;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=593;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q185Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-535;refseq.start_1=1520219;refseq.start_2=1608201;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=soap-filterIngatk GT 1/0 chr11 1608221 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=394;Dels=0.00;HRun=0;HaplotypeScore=54.72;MQ=89.81;MQ0=1;OQ=272.18;QD=0.69;SB=55.02;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.575A>G;refseq.codonCoord_2=192;refseq.end_1=1742040;refseq.end_2=1608221;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=613;refseq.name2_1=MOB2;refseq.name2_2=KRTAP5-5;refseq.name_1=NM_053005;refseq.name_2=NM_001001480;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y192C;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=-515;refseq.start_1=1520219;refseq.start_2=1608221;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:276,39:256:-107.64,-77.14,-924.79:99 chr11 1735292 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.542A>G;refseq.codonCoord_2=181;refseq.end_1=1742040;refseq.end_2=1735292;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=675;refseq.name2_1=MOB2;refseq.name2_2=CTSD;refseq.name_1=NM_053005;refseq.name_2=NM_001909;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E181G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=71;refseq.start_1=1520219;refseq.start_2=1735292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 1735301 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.533T>G;refseq.codonCoord_2=178;refseq.end_1=1742040;refseq.end_2=1735301;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=666;refseq.name2_1=MOB2;refseq.name2_2=CTSD;refseq.name_1=NM_053005;refseq.name_2=NM_001909;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V178G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=62;refseq.start_1=1520219;refseq.start_2=1735301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr11 1813749 . T C 189.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=98.70;MQ0=0;OQ=6086.38;QD=32.90;RankSumP=1.00000;SB=-2956.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.358T>C;refseq.codonCoord=120;refseq.end=1813749;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_138567;refseq.name2=SYT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C120R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-42;refseq.start=1813749;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 1814338 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=10.03;MQ=95.24;MQ0=0;OQ=1633.45;QD=13.39;RankSumP=0.188871;SB=-236.44;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.666C>T;refseq.codonCoord=222;refseq.end=1814338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_138567;refseq.name2=SYT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T222T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-61;refseq.start=1814338;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr11 1815148 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.02;MQ0=0;OQ=263.65;QD=8.24;RankSumP=0.553346;SB=-73.27;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1117C>T;refseq.codonCoord=373;refseq.end=1815148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_138567;refseq.name2=SYT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R373W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=151;refseq.start=1815148;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr11 1818336 . T C 73.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.21;MQ0=0;OQ=630.91;QD=31.55;RankSumP=1.00000;SB=-342.63;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.60T>C;refseq.codingCoordStr_2=c.60T>C;refseq.codingCoordStr_3=c.60T>C;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.codonCoord_3=20;refseq.end_1=1818336;refseq.end_2=1818336;refseq.end_3=1818336;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=121;refseq.mrnaCoord_2=82;refseq.mrnaCoord_3=113;refseq.name2_1=TNNI2;refseq.name2_2=TNNI2;refseq.name2_3=TNNI2;refseq.name_1=NM_001145829;refseq.name_2=NM_001145841;refseq.name_3=NM_003282;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S20S;refseq.proteinCoordStr_2=p.S20S;refseq.proteinCoordStr_3=p.S20S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=1818336;refseq.start_2=1818336;refseq.start_3=1818336;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr11 1859344 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.67;MQ0=0;OQ=133.82;QD=7.43;RankSumP=0.528189;SB=-10.00;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.112G>A;refseq.codingCoordStr_2=c.112G>A;refseq.codingCoordStr_3=c.112G>A;refseq.codingCoordStr_4=c.298G>A;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=100;refseq.end_1=1859344;refseq.end_2=1859344;refseq.end_3=1859344;refseq.end_4=1859344;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=559;refseq.mrnaCoord_2=789;refseq.mrnaCoord_3=295;refseq.mrnaCoord_4=473;refseq.name2_1=LSP1;refseq.name2_2=LSP1;refseq.name2_3=LSP1;refseq.name2_4=LSP1;refseq.name_1=NM_001013253;refseq.name_2=NM_001013254;refseq.name_3=NM_001013255;refseq.name_4=NM_002339;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A38T;refseq.proteinCoordStr_2=p.A38T;refseq.proteinCoordStr_3=p.A38T;refseq.proteinCoordStr_4=p.A100T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.spliceDist_4=-59;refseq.start_1=1859344;refseq.start_2=1859344;refseq.start_3=1859344;refseq.start_4=1859344;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/0 chr11 1862365 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.509A>G;refseq.codingCoordStr_2=c.509A>G;refseq.codingCoordStr_3=c.509A>G;refseq.codingCoordStr_4=c.695A>G;refseq.codonCoord_1=170;refseq.codonCoord_2=170;refseq.codonCoord_3=170;refseq.codonCoord_4=232;refseq.end_1=1862365;refseq.end_2=1862365;refseq.end_3=1862365;refseq.end_4=1862365;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=956;refseq.mrnaCoord_2=1186;refseq.mrnaCoord_3=692;refseq.mrnaCoord_4=870;refseq.name2_1=LSP1;refseq.name2_2=LSP1;refseq.name2_3=LSP1;refseq.name2_4=LSP1;refseq.name_1=NM_001013253;refseq.name_2=NM_001013254;refseq.name_3=NM_001013255;refseq.name_4=NM_002339;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E170G;refseq.proteinCoordStr_2=p.E170G;refseq.proteinCoordStr_3=p.E170G;refseq.proteinCoordStr_4=p.E232G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.spliceDist_4=-23;refseq.start_1=1862365;refseq.start_2=1862365;refseq.start_3=1862365;refseq.start_4=1862365;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=FilteredInAll GT 0/1 chr11 1928719 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=17.85;MQ=98.64;MQ0=0;OQ=1552.38;QD=11.85;RankSumP=0.332794;SB=-625.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.32G>A;refseq.codonCoord=11;refseq.end=1928719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_021134;refseq.name2=MRPL23;refseq.positionType=CDS;refseq.proteinCoordStr=p.R11Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=15;refseq.start=1928719;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr11 1928781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.38;MQ0=0;OQ=403.78;QD=13.03;RankSumP=0.247823;SB=-81.29;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.94G>A;refseq.codonCoord=32;refseq.end=1928781;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_021134;refseq.name2=MRPL23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G32S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-47;refseq.start=1928781;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr11 2124119 . T G 314.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=5.67;MQ=98.58;MQ0=0;OQ=7974.30;QD=36.75;RankSumP=1.00000;SB=-2401.32;SecondBestBaseQ=0;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.end_1=2125361;refseq.end_2=2125361;refseq.end_3=2124119;refseq.end_4=2124119;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_3=489;refseq.mrnaCoord_4=489;refseq.name2_1=IGF2;refseq.name2_2=INS-IGF2;refseq.name2_3=IGF2AS;refseq.name2_4=IGF2AS;refseq.name_1=NM_001007139;refseq.name_2=NR_003512;refseq.name_3=NR_028043;refseq.name_4=NR_028044;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.spliceDist_3=69;refseq.spliceDist_4=69;refseq.start_1=2113346;refseq.start_2=2113350;refseq.start_3=2124119;refseq.start_4=2124119;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=Intersection GT 1/1 chr11 2124194 . A G 261.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=981.26;QD=35.05;RankSumP=1.00000;SB=-179.77;SecondBestBaseQ=0;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.end_1=2125361;refseq.end_2=2125361;refseq.end_3=2124194;refseq.end_4=2124194;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_3=564;refseq.mrnaCoord_4=564;refseq.name2_1=IGF2;refseq.name2_2=INS-IGF2;refseq.name2_3=IGF2AS;refseq.name2_4=IGF2AS;refseq.name_1=NM_001007139;refseq.name_2=NR_003512;refseq.name_3=NR_028043;refseq.name_4=NR_028044;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.spliceDist_3=-140;refseq.spliceDist_4=144;refseq.start_1=2113346;refseq.start_2=2113350;refseq.start_3=2124194;refseq.start_4=2124194;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=Intersection GT 1/1 chr11 2125590 . A G 122.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=136.96;QD=34.24;RankSumP=1.00000;SB=-94.37;SecondBestBaseQ=0;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_4=c.-225T>C;refseq.codingCoordStr_5=c.431T>C;refseq.codonCoord_5=144;refseq.end_1=2125590;refseq.end_2=2125590;refseq.end_3=2125590;refseq.end_4=2125590;refseq.end_5=2125590;refseq.frame_5=1;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=1170;refseq.mrnaCoord_3=1960;refseq.mrnaCoord_4=502;refseq.mrnaCoord_5=490;refseq.name2_1=INS-IGF2;refseq.name2_2=IGF2AS;refseq.name2_3=IGF2AS;refseq.name2_4=IGF2;refseq.name2_5=INS-IGF2;refseq.name_1=NR_003512;refseq.name_2=NR_028043;refseq.name_3=NR_028044;refseq.name_4=NM_001007139;refseq.name_5=NM_001042376;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=utr5;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.L144P;refseq.referenceAA_5=Leu;refseq.referenceCodon_5=CTT;refseq.spliceDist_1=24;refseq.spliceDist_2=467;refseq.spliceDist_3=-881;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.start_1=2125590;refseq.start_2=2125590;refseq.start_3=2125590;refseq.start_4=2125590;refseq.start_5=2125590;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_5=Pro;refseq.variantCodon_5=CCT;set=filterInsoap-gatk GT 1/1 chr11 2144814 . C T 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.93;MQ0=0;OQ=158.71;QD=5.67;RankSumP=0.664114;SB=-69.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.720G>A;refseq.codingCoordStr_2=c.813G>A;refseq.codingCoordStr_3=c.801G>A;refseq.codonCoord_1=240;refseq.codonCoord_2=271;refseq.codonCoord_3=267;refseq.end_1=2144814;refseq.end_2=2144814;refseq.end_3=2144814;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=739;refseq.mrnaCoord_2=832;refseq.mrnaCoord_3=820;refseq.name2_1=TH;refseq.name2_2=TH;refseq.name2_3=TH;refseq.name_1=NM_000360;refseq.name_2=NM_199292;refseq.name_3=NM_199293;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K240K;refseq.proteinCoordStr_2=p.K271K;refseq.proteinCoordStr_3=p.K267K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=2144814;refseq.start_2=2144814;refseq.start_3=2144814;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr11 2147527 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=18.37;MQ=98.00;MQ0=0;OQ=2820.53;QD=15.50;RankSumP=0.477960;SB=-631.13;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.241G>A;refseq.codingCoordStr_2=c.334G>A;refseq.codingCoordStr_3=c.322G>A;refseq.codonCoord_1=81;refseq.codonCoord_2=112;refseq.codonCoord_3=108;refseq.end_1=2147527;refseq.end_2=2147527;refseq.end_3=2147527;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=260;refseq.mrnaCoord_2=353;refseq.mrnaCoord_3=341;refseq.name2_1=TH;refseq.name2_2=TH;refseq.name2_3=TH;refseq.name_1=NM_000360;refseq.name_2=NM_199292;refseq.name_3=NM_199293;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V81M;refseq.proteinCoordStr_2=p.V112M;refseq.proteinCoordStr_3=p.V108M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.start_1=2147527;refseq.start_2=2147527;refseq.start_3=2147527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 0/1 chr11 2381260 . A C 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=590.46;QD=34.73;RankSumP=1.00000;SB=-162.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.821A>C;refseq.codonCoord=274;refseq.end=2381260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_005706;refseq.name2=TSSC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H274P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-423;refseq.start=2381260;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 2383867 . A C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=302;Dels=0.00;HRun=5;HaplotypeScore=3.64;MQ=98.46;MQ0=0;OQ=12188.26;QD=40.36;RankSumP=1.00000;SB=-5812.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3282T>G;refseq.codonCoord=1094;refseq.end=2383867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3291;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1094G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=31;refseq.start=2383867;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/1 chr11 2389242 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=207.15;QD=13.81;RankSumP=0.563603;SB=-84.31;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2698G>A;refseq.codonCoord=900;refseq.end=2389242;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2707;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G900S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-85;refseq.start=2389242;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr11 2389540 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.87;MQ0=0;OQ=890.25;QD=10.23;RankSumP=0.277380;SB=-287.55;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2508A>G;refseq.codonCoord=836;refseq.end=2389540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2517;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T836T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=34;refseq.start=2389540;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 2395539 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.56;MQ0=0;OQ=974.59;QD=21.66;RankSumP=0.363475;SB=-366.34;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1003G>T;refseq.codonCoord=335;refseq.end=2395539;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V335L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=2395539;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr11 2396118 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=378.89;QD=13.07;RankSumP=0.406590;SB=-136.74;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.761T>C;refseq.codonCoord=254;refseq.end=2396118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V254A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=47;refseq.start=2396118;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr11 2398179 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.57;MQ0=0;OQ=437.86;QD=10.95;RankSumP=0.0830413;SB=-69.30;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.498C>T;refseq.codonCoord=166;refseq.end=2398179;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_014555;refseq.name2=TRPM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D166D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=33;refseq.start=2398179;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr11 2825764 . C T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=91.70;MQ0=0;OQ=149.20;QD=14.92;RankSumP=0.266900;SB=-81.08;SecondBestBaseQ=19;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1986C>T;refseq.codingCoordStr_2=c.1605C>T;refseq.codonCoord_1=662;refseq.codonCoord_2=535;refseq.end_1=2825764;refseq.end_2=2825764;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2094;refseq.mrnaCoord_2=1861;refseq.name2_1=KCNQ1;refseq.name2_2=KCNQ1;refseq.name_1=NM_000218;refseq.name_2=NM_181798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y662Y;refseq.proteinCoordStr_2=p.Y535Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=192;refseq.spliceDist_2=192;refseq.start_1=2825764;refseq.start_2=2825764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr11 2881186 . G A 124.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.08;MQ0=0;OQ=778.58;QD=17.70;RankSumP=0.546030;SB=-316.31;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.35G>A;refseq.codingCoordStr_3=c.35G>A;refseq.codonCoord_2=12;refseq.codonCoord_3=12;refseq.end_1=2881254;refseq.end_2=2881186;refseq.end_3=2881186;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=250;refseq.mrnaCoord_3=253;refseq.name2_1=SLC22A18AS;refseq.name2_2=SLC22A18;refseq.name2_3=SLC22A18;refseq.name_1=NM_007105;refseq.name_2=NM_002555;refseq.name_3=NM_183233;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R12Q;refseq.proteinCoordStr_3=p.R12Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_2=-110;refseq.spliceDist_3=-110;refseq.start_1=2880526;refseq.start_2=2881186;refseq.start_3=2881186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/0 chr11 2886128 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.94;MQ0=0;OQ=907.35;QD=10.08;RankSumP=0.314149;SB=-124.68;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.234A>G;refseq.codingCoordStr_2=c.234A>G;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.end_1=2886128;refseq.end_2=2886128;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=452;refseq.name2_1=SLC22A18;refseq.name2_2=SLC22A18;refseq.name_1=NM_002555;refseq.name_2=NM_183233;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V78V;refseq.proteinCoordStr_2=p.V78V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=2886128;refseq.start_2=2886128;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr11 2907118 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=7.89023e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.53A>C;refseq.codonCoord=18;refseq.end=2907118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=109;refseq.name=NM_003311;refseq.name2=PHLDA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D18A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=109;refseq.start=2907118;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 2907134 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=8.07;MQ=95.56;MQ0=0;OQ=1894.71;QD=29.60;RankSumP=1.00000;SB=-178.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.37T>C;refseq.codonCoord=13;refseq.end=2907134;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=93;refseq.name=NM_003311;refseq.name2=PHLDA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=93;refseq.start=2907134;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 2949927 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.296A>C;refseq.codonCoord=99;refseq.end=2949927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_005969;refseq.name2=NAP1L4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y99S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-20;refseq.start=2949927;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr11 3085603 . G A 106.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=97.06;MQ0=0;OQ=1328.24;QD=21.08;RankSumP=0.484606;SB=-465.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.636C>T;refseq.codingCoordStr_2=c.840C>T;refseq.codingCoordStr_3=c.636C>T;refseq.codonCoord_1=212;refseq.codonCoord_2=280;refseq.codonCoord_3=212;refseq.end_1=3085603;refseq.end_2=3085603;refseq.end_3=3085603;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=998;refseq.mrnaCoord_3=787;refseq.name2_1=OSBPL5;refseq.name2_2=OSBPL5;refseq.name2_3=OSBPL5;refseq.name_1=NM_001144063;refseq.name_2=NM_020896;refseq.name_3=NM_145638;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T212T;refseq.proteinCoordStr_2=p.T280T;refseq.proteinCoordStr_3=p.T212T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=3085603;refseq.start_2=3085603;refseq.start_3=3085603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/0 chr11 3206405 . G A 205.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=99.00;MQ0=0;OQ=1689.00;QD=14.19;RankSumP=0.276430;SB=-742.69;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.198C>T;refseq.codonCoord=66;refseq.end=3206405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_001039165;refseq.name2=MRGPRE;refseq.positionType=CDS;refseq.proteinCoordStr=p.C66C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=262;refseq.start=3206405;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr11 3337945 . G C 178.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=98.90;MQ0=0;OQ=8073.41;QD=22.61;RankSumP=0.394560;SB=-3161.16;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.800C>G;refseq.codingCoordStr_2=c.869C>G;refseq.codingCoordStr_3=c.653C>G;refseq.codonCoord_1=267;refseq.codonCoord_2=290;refseq.codonCoord_3=218;refseq.end_1=3337945;refseq.end_2=3337945;refseq.end_3=3337945;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=1047;refseq.mrnaCoord_3=831;refseq.name2_1=ZNF195;refseq.name2_2=ZNF195;refseq.name2_3=ZNF195;refseq.name_1=NM_001130519;refseq.name_2=NM_001130520;refseq.name_3=NM_007152;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P267R;refseq.proteinCoordStr_2=p.P290R;refseq.proteinCoordStr_3=p.P218R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=427;refseq.spliceDist_2=427;refseq.spliceDist_3=427;refseq.start_1=3337945;refseq.start_2=3337945;refseq.start_3=3337945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 0/1 chr11 3349387 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=173;Dels=0.00;HRun=0;HaplotypeScore=12.97;MQ=98.88;MQ0=0;OQ=2777.61;QD=16.06;RankSumP=0.383892;SB=-894.72;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.126C>T;refseq.codingCoordStr_2=c.126C>T;refseq.codingCoordStr_3=c.126C>T;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.codonCoord_3=42;refseq.end_1=3349387;refseq.end_2=3349387;refseq.end_3=3349387;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=304;refseq.mrnaCoord_2=304;refseq.mrnaCoord_3=304;refseq.name2_1=ZNF195;refseq.name2_2=ZNF195;refseq.name2_3=ZNF195;refseq.name_1=NM_001130519;refseq.name_2=NM_001130520;refseq.name_3=NM_007152;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S42S;refseq.proteinCoordStr_2=p.S42S;refseq.proteinCoordStr_3=p.S42S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=3349387;refseq.start_2=3349387;refseq.start_3=3349387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/0 chr11 3616569 . G T 231.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=2.36;MQ=99.00;MQ0=0;OQ=2529.08;QD=16.32;RankSumP=0.402757;SB=-1224.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.851C>A;refseq.codingCoordStr_2=c.851C>A;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.end_1=3616569;refseq.end_2=3616569;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=992;refseq.mrnaCoord_2=1244;refseq.name2_1=ART5;refseq.name2_2=ART5;refseq.name_1=NM_001079536;refseq.name_2=NM_053017;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T284K;refseq.proteinCoordStr_2=p.T284K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=3616569;refseq.start_2=3616569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr11 3617716 . T C 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=98.81;MQ0=0;OQ=1161.93;QD=37.48;RankSumP=1.00000;SB=-421.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.519A>G;refseq.codingCoordStr_2=c.519A>G;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.end_1=3617716;refseq.end_2=3617716;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=912;refseq.name2_1=ART5;refseq.name2_2=ART5;refseq.name_1=NM_001079536;refseq.name_2=NM_053017;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G173G;refseq.proteinCoordStr_2=p.G173G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-269;refseq.spliceDist_2=-269;refseq.start_1=3617716;refseq.start_2=3617716;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr11 3638095 . T C 121.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=9.18;MQ=98.38;MQ0=0;OQ=2990.25;QD=13.29;RankSumP=0.0254171;SB=-1230.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.770T>C;refseq.codonCoord=257;refseq.end=3638095;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_004314;refseq.name2=ART1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L257P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-75;refseq.start=3638095;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr11 3647110 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.254A>G;refseq.codonCoord=85;refseq.end=3647110;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_020402;refseq.name2=CHRNA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E85G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=47;refseq.start=3647110;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 3709314 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=8.22548e-09;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1664G>C;refseq.codingCoordStr_2=c.1613G>C;refseq.codingCoordStr_3=c.1613G>C;refseq.codingCoordStr_4=c.1613G>C;refseq.codonCoord_1=555;refseq.codonCoord_2=538;refseq.codonCoord_3=538;refseq.codonCoord_4=538;refseq.end_1=3709314;refseq.end_2=3709314;refseq.end_3=3709314;refseq.end_4=3709314;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1955;refseq.mrnaCoord_2=1904;refseq.mrnaCoord_3=1904;refseq.mrnaCoord_4=1904;refseq.name2_1=NUP98;refseq.name2_2=NUP98;refseq.name2_3=NUP98;refseq.name2_4=NUP98;refseq.name_1=NM_005387;refseq.name_2=NM_016320;refseq.name_3=NM_139131;refseq.name_4=NM_139132;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R555P;refseq.proteinCoordStr_2=p.R538P;refseq.proteinCoordStr_3=p.R538P;refseq.proteinCoordStr_4=p.R538P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.spliceDist_4=71;refseq.start_1=3709314;refseq.start_2=3709314;refseq.start_3=3709314;refseq.start_4=3709314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr11 3722354 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1420A>C;refseq.codingCoordStr_2=c.1369A>C;refseq.codingCoordStr_3=c.1369A>C;refseq.codingCoordStr_4=c.1369A>C;refseq.codonCoord_1=474;refseq.codonCoord_2=457;refseq.codonCoord_3=457;refseq.codonCoord_4=457;refseq.end_1=3722354;refseq.end_2=3722354;refseq.end_3=3722354;refseq.end_4=3722354;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1711;refseq.mrnaCoord_2=1660;refseq.mrnaCoord_3=1660;refseq.mrnaCoord_4=1660;refseq.name2_1=NUP98;refseq.name2_2=NUP98;refseq.name2_3=NUP98;refseq.name2_4=NUP98;refseq.name_1=NM_005387;refseq.name_2=NM_016320;refseq.name_3=NM_139131;refseq.name_4=NM_139132;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T474P;refseq.proteinCoordStr_2=p.T457P;refseq.proteinCoordStr_3=p.T457P;refseq.proteinCoordStr_4=p.T457P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=3722354;refseq.start_2=3722354;refseq.start_3=3722354;refseq.start_4=3722354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr11 3749645 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.693T>C;refseq.codingCoordStr_2=c.693T>C;refseq.codingCoordStr_3=c.693T>C;refseq.codingCoordStr_4=c.693T>C;refseq.codonCoord_1=231;refseq.codonCoord_2=231;refseq.codonCoord_3=231;refseq.codonCoord_4=231;refseq.end_1=3749645;refseq.end_2=3749645;refseq.end_3=3749645;refseq.end_4=3749645;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=984;refseq.mrnaCoord_3=984;refseq.mrnaCoord_4=984;refseq.name2_1=NUP98;refseq.name2_2=NUP98;refseq.name2_3=NUP98;refseq.name2_4=NUP98;refseq.name_1=NM_005387;refseq.name_2=NM_016320;refseq.name_3=NM_139131;refseq.name_4=NM_139132;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S231S;refseq.proteinCoordStr_2=p.S231S;refseq.proteinCoordStr_3=p.S231S;refseq.proteinCoordStr_4=p.S231S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.spliceDist_4=90;refseq.start_1=3749645;refseq.start_2=3749645;refseq.start_3=3749645;refseq.start_4=3749645;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 0/1 chr11 4060100 . A G 199.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=8.90;MQ=98.43;MQ0=0;OQ=2540.50;QD=14.94;RankSumP=0.264787;SB=-495.23;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1080A>G;refseq.codonCoord=360;refseq.end=4060100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1648;refseq.name=NM_003156;refseq.name2=STIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q360Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-58;refseq.start=4060100;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 4061305 . G T 14.53 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.21;SB=-17.28;refseq.chr=chr11;refseq.codingCoordStr=c.1474+1;refseq.end=4061305;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_003156;refseq.name2=STIM1;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=4061305;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:12:-8.33,-3.61,-43.07:47.21 chr11 4097708 . C A 298.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.81;MQ0=0;OQ=5275.07;QD=18.71;RankSumP=0.283899;SB=-2020.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.850C>A;refseq.codonCoord=284;refseq.end=4097708;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_001033;refseq.name2=RRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R284R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-27;refseq.start=4097708;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr11 4116033 . A G 113.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=98.62;MQ0=0;OQ=2374.98;QD=14.75;RankSumP=0.170688;SB=-1210.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2223A>G;refseq.codonCoord=741;refseq.end=4116033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2542;refseq.name=NM_001033;refseq.name2=RRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T741T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=33;refseq.start=4116033;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr11 4116042 . G A 235.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.55;MQ0=0;OQ=2771.65;QD=17.11;RankSumP=0.244113;SB=-1325.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2232G>A;refseq.codonCoord=744;refseq.end=4116042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2551;refseq.name=NM_001033;refseq.name2=RRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A744A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=42;refseq.start=4116042;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr11 4345481 . C T 276.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=98.96;MQ0=0;OQ=4515.08;QD=18.35;RankSumP=0.316743;SB=-1440.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.621G>A;refseq.codonCoord=207;refseq.end=4345481;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_001005161;refseq.name2=OR52B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S207S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-413;refseq.start=4345481;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr11 4523894 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0549221;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.898A>G;refseq.codonCoord=300;refseq.end=4523894;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=898;refseq.name=NM_001004137;refseq.name2=OR52M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K300E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-57;refseq.start=4523894;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr11 4564838 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=742;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=27.58;MQ0=418;OQ=753.57;QD=1.02;RankSumP=0.335689;SB=327.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.220A>C;refseq.codonCoord=74;refseq.end=4564838;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_001005170;refseq.name2=OR52I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I74L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=242;refseq.start=4564838;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 0/1 chr11 4578214 . A C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=2.48599e-07;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1326T>G;refseq.codonCoord=442;refseq.end=4578214;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1564;refseq.name=NM_018073;refseq.name2=TRIM68;refseq.positionType=CDS;refseq.proteinCoordStr=p.C442W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=419;refseq.start=4578214;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr11 4617861 . A G 129.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=99.00;MQ0=0;OQ=2129.28;QD=12.60;RankSumP=0.0588702;SB=-1061.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.265A>G;refseq.codonCoord=89;refseq.end=4617861;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_001004751;refseq.name2=OR51D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I89V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=341;refseq.start=4617861;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr11 4618430 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.834T>G;refseq.codonCoord=278;refseq.end=4618430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_001004751;refseq.name2=OR51D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G278G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-215;refseq.start=4618430;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 4630784 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.452C>G;refseq.codonCoord=151;refseq.end=4630784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_152430;refseq.name2=OR51E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=491;refseq.start=4630784;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr11 4631151 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.83;MQ0=0;OQ=11672.95;QD=21.07;RankSumP=0.319640;SB=-4955.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.819G>A;refseq.codonCoord=273;refseq.end=4631151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_152430;refseq.name2=OR51E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P273P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=858;refseq.start=4631151;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr11 4659741 . C A 214.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=98.86;MQ0=0;OQ=12122.21;QD=37.41;RankSumP=1.00000;SB=-5449.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.777G>T;refseq.codonCoord=259;refseq.end=4659741;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1021;refseq.name=NM_030774;refseq.name2=OR51E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V259V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=827;refseq.start=4659741;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 4781454 . A C 212.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1199.17;QD=16.89;RankSumP=0.131357;SB=-542.25;SecondBestBaseQ=32;set=Intersection GT 0/1 chr11 4781586 . T A 295.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=9.37;MQ=98.68;MQ0=0;OQ=8618.72;QD=21.76;RankSumP=0.146063;SB=-1518.85;SecondBestBaseQ=32;set=Intersection GT 1/0 chr11 4781801 . A G 111.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=483;Dels=0.00;HRun=1;HaplotypeScore=10.47;MQ=98.98;MQ0=0;OQ=8624.11;QD=17.86;RankSumP=0.198075;SB=-2741.00;SecondBestBaseQ=30;set=Intersection GT 0/1 chr11 4860076 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0711116;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.452G>A;refseq.codonCoord=151;refseq.end=4860076;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_001004759;refseq.name2=OR51T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R151H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=452;refseq.start=4860076;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr11 4885442 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=585;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.77;MQ0=0;OQ=11575.62;QD=19.79;RankSumP=0.336241;SB=-4586.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.267C>T;refseq.codonCoord=89;refseq.end=4885442;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_001004749;refseq.name2=OR51A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A89A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=267;refseq.start=4885442;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 4901772 . T G 239.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.25;MQ0=0;OQ=1965.12;QD=36.39;RankSumP=1.00000;SB=-897.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.374A>C;refseq.codonCoord=125;refseq.end=4901772;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_001005237;refseq.name2=OR51G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y125S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=374;refseq.start=4901772;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 4924044 . G A 134.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=26.30;MQ0=29;OQ=14852.09;QD=36.40;RankSumP=1.00000;SB=-7074.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.863C>T;refseq.codonCoord=288;refseq.end=4924044;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_001005329;refseq.name2=OR51A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T288M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-80;refseq.start=4924044;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr11 4924227 . A G 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=9.59;MQ0=103;OQ=460.03;QD=3.77;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.680T>C;refseq.codonCoord=227;refseq.end=4924227;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_001005329;refseq.name2=OR51A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L227P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-263;refseq.start=4924227;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr11 4924774 . C A 56.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=21.96;MQ0=255;OQ=5119.20;QD=13.09;RankSumP=1.00000;SB=-1748.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.133G>T;refseq.codonCoord=45;refseq.end=4924774;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_001005329;refseq.name2=OR51A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=133;refseq.start=4924774;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 4932662 . C T 135.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=28.79;MQ0=34;OQ=8130.48;QD=33.60;RankSumP=1.00000;SB=-4029.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.858G>A;refseq.codonCoord=286;refseq.end=4932662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P286P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-85;refseq.start=4932662;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr11 4932817 rs2570571 C G 0.04 PASS AC=1;AF=0.50;AN=2;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=21.90;MQ0=73;OQ=346.04;QD=1.84;SB=116.43;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.703G>C;refseq.codonCoord=235;refseq.end=4932817;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E235Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-240;refseq.start=4932817;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=gatk GT:AD:DP:GL:GQ 0/1:115,73:102:-68.60,-30.71,-437.34:99 chr11 4932867 rs55889636 G A 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=301;Dels=0.00;HRun=2;HaplotypeScore=2.31;MQ=18.01;MQ0=169;OQ=735.54;QD=2.44;SB=-273.97;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.653C>T;refseq.codonCoord=218;refseq.end=4932867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S218F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-290;refseq.start=4932867;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=gatk GT:AD:DP:GL:GQ 0/1:203,98:122:-113.57,-36.73,-410.57:99 chr11 4933023 . C G 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=706;Dels=0.00;HRun=0;HaplotypeScore=16.76;MQ=24.80;MQ0=218;OQ=12458.04;QD=17.65;RankSumP=0.393939;SB=-4904.53;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.497G>C;refseq.codonCoord=166;refseq.end=4933023;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R166T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-446;refseq.start=4933023;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr11 4933130 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=743;Dels=0.00;HRun=2;HaplotypeScore=17.99;MQ=44.96;MQ0=141;OQ=1053.66;QD=1.42;RankSumP=0.295462;SB=805.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.390T>C;refseq.codonCoord=130;refseq.end=4933130;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N130N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=390;refseq.start=4933130;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 0/1 chr11 4933344 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.83;MQ0=46;OQ=1035.90;QD=4.06;RankSumP=0.252399;SB=106.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.176G>A;refseq.codonCoord=59;refseq.end=4933344;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G59E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=176;refseq.start=4933344;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 0/1 chr11 4933387 . C A 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=1;HaplotypeScore=9.94;MQ=40.16;MQ0=227;OQ=4631.31;QD=13.27;RankSumP=1.00000;SB=-2282.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.133G>T;refseq.codonCoord=45;refseq.end=4933387;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_001004748;refseq.name2=OR51A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=133;refseq.start=4933387;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 4976992 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=627;Dels=0.00;HRun=1;HaplotypeScore=21.20;MQ=98.68;MQ0=0;OQ=25598.95;QD=40.83;RankSumP=1.00000;SB=-12756.92;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.204A>G;refseq.codonCoord=68;refseq.end=4976992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_001004755;refseq.name2=OR51L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L68L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=204;refseq.start=4976992;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 4977085 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=683;Dels=0.00;HRun=1;HaplotypeScore=22.96;MQ=98.82;MQ0=0;OQ=13596.56;QD=19.91;RankSumP=0.288922;SB=-5502.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.297C>T;refseq.codonCoord=99;refseq.end=4977085;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=297;refseq.name=NM_001004755;refseq.name2=OR51L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C99C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=297;refseq.start=4977085;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr11 4977375 . C T 197.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=19.78;MQ=98.87;MQ0=0;OQ=7696.30;QD=18.46;RankSumP=0.256905;SB=-2255.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.587C>T;refseq.codonCoord=196;refseq.end=4977375;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_001004755;refseq.name2=OR51L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T196I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-362;refseq.start=4977375;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr11 4977408 . C T 343.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.92;MQ0=0;OQ=6136.86;QD=18.21;RankSumP=0.497935;SB=-2192.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.620C>T;refseq.codonCoord=207;refseq.end=4977408;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_001004755;refseq.name2=OR51L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A207V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-329;refseq.start=4977408;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr11 5024560 . A G 293.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=98.66;MQ0=0;OQ=5632.25;QD=22.90;RankSumP=0.0692821;SB=-2255.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.229A>G;refseq.codonCoord=77;refseq.end=5024560;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_001001916;refseq.name2=OR52J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T77A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=229;refseq.start=5024560;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr11 5024713 . G A 329.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=98.46;MQ0=0;OQ=3856.48;QD=17.94;RankSumP=0.0788328;SB=-1044.38;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.382G>A;refseq.codonCoord=128;refseq.end=5024713;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_001001916;refseq.name2=OR52J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V128I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=382;refseq.start=5024713;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr11 5024753 . A T 306.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=98.44;MQ0=0;OQ=2905.43;QD=15.88;RankSumP=0.262219;SB=-1349.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.422A>T;refseq.codonCoord=141;refseq.end=5024753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_001001916;refseq.name2=OR52J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q141L;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=422;refseq.start=5024753;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr11 5025237 . A G 117.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=2478.47;QD=14.00;RankSumP=0.306827;SB=-312.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.906A>G;refseq.codonCoord=302;refseq.end=5025237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_001001916;refseq.name2=OR52J3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E302E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-31;refseq.start=5025237;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr11 5036522 . C T 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=90.80;MQ0=5;OQ=8590.89;QD=40.14;RankSumP=1.00000;SB=-3415.12;SecondBestBaseQ=0;set=Intersection GT 1/1 chr11 5036644 . G A 177.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=7.95;MQ=67.64;MQ0=16;OQ=4153.54;QD=14.94;RankSumP=0.0730877;SB=-1078.57;SecondBestBaseQ=33;set=Intersection GT 1/0 chr11 5036810 . T C 245.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=5.69;MQ=98.39;MQ0=0;OQ=4887.33;QD=21.44;RankSumP=0.180444;SB=-1829.58;SecondBestBaseQ=33;set=Intersection GT 1/0 chr11 5037420 . T C 253.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=15.77;MQ=90.02;MQ0=1;OQ=8571.81;QD=20.61;RankSumP=0.0184216;SB=-3428.42;SecondBestBaseQ=31;set=Intersection GT 1/0 chr11 5098478 . T C 325.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.59;MQ0=0;OQ=10898.82;QD=40.82;RankSumP=1.00000;SB=-3013.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.907A>G;refseq.codonCoord=303;refseq.end=5098478;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_001005222;refseq.name2=OR52A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T303A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-51;refseq.start=5098478;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 5098556 . A G 121.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=13.78;MQ=98.50;MQ0=0;OQ=11376.28;QD=37.92;RankSumP=1.00000;SB=-3716.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.829T>C;refseq.codonCoord=277;refseq.end=5098556;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_001005222;refseq.name2=OR52A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C277R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-129;refseq.start=5098556;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr11 5098710 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=18.37;MQ=98.24;MQ0=0;OQ=2303.31;QD=12.94;RankSumP=0.127926;SB=-1115.99;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.675G>A;refseq.codonCoord=225;refseq.end=5098710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_001005222;refseq.name2=OR52A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q225Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-283;refseq.start=5098710;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr11 5098846 . T G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=98.72;MQ0=0;OQ=15832.35;QD=41.34;RankSumP=1.00000;SB=-6937.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.539A>C;refseq.codonCoord=180;refseq.end=5098846;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_001005222;refseq.name2=OR52A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y180S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-419;refseq.start=5098846;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 5099125 . T C 231.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.31;MQ0=0;OQ=3111.63;QD=17.88;RankSumP=0.0903526;SB=-1293.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.260A>G;refseq.codonCoord=87;refseq.end=5099125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_001005222;refseq.name2=OR52A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D87G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=299;refseq.start=5099125;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr11 5129362 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=98.97;MQ0=0;OQ=13193.82;QD=42.02;RankSumP=1.00000;SB=-4361.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.814T>C;refseq.codonCoord=272;refseq.end=5129362;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_012375;refseq.name2=OR52A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S272P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-126;refseq.start=5129362;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 5177708 . G A 152.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=98.69;MQ0=0;OQ=4524.52;QD=21.55;RankSumP=0.128584;SB=-1850.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.799C>T;refseq.codonCoord=267;refseq.end=5177708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=799;refseq.name=NM_001004760;refseq.name2=OR51V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L267F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-168;refseq.start=5177708;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr11 5178221 . C G 100.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=1073.62;QD=15.56;RankSumP=0.0339528;SB=-297.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.286G>C;refseq.codonCoord=96;refseq.end=5178221;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_001004760;refseq.name2=OR51V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=286;refseq.start=5178221;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr11 5178401 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=950.41;QD=21.12;RankSumP=0.708728;SB=-206.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.106C>T;refseq.codonCoord=36;refseq.end=5178401;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_001004760;refseq.name2=OR51V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L36F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=106;refseq.start=5178401;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 5203437 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.411T>G;refseq.codonCoord=137;refseq.end=5203437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_000518;refseq.name2=HBB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G137G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=96;refseq.start=5203437;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 5204819 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=9.37;MQ=98.69;MQ0=0;OQ=6176.06;QD=16.13;RankSumP=0.458428;SB=-1231.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.9T>C;refseq.codonCoord=3;refseq.end=5204819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_000518;refseq.name2=HBB;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=59;refseq.start=5204819;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr11 5226199 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=15.93;MQ=57.05;MQ0=32;OQ=968.16;QD=3.25;RankSumP=0.182434;SB=14.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.410C>G;refseq.codonCoord=137;refseq.end=5226199;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_000559;refseq.name2=HBG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A137G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=95;refseq.start=5226199;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 5279096 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=1339.38;QD=14.25;RankSumP=0.448004;SB=-613.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=5279096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_033179;refseq.name2=OR51B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L219L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-277;refseq.start=5279096;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr11 5279647 . C T 298.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=98.68;MQ0=0;OQ=5854.84;QD=16.82;RankSumP=0.265390;SB=-1137.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.106G>A;refseq.codonCoord=36;refseq.end=5279647;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_033179;refseq.name2=OR51B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V36I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=106;refseq.start=5279647;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr11 5301168 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.78;MQ0=0;OQ=2796.50;QD=20.26;RankSumP=0.231201;SB=-205.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.936T>G;refseq.codonCoord=312;refseq.end=5301168;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S312R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-65;refseq.start=5301168;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr11 5301257 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=98.82;MQ0=0;OQ=7750.49;QD=19.57;RankSumP=0.270082;SB=-2995.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.847C>T;refseq.codonCoord=283;refseq.end=5301257;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P283S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-154;refseq.start=5301257;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr11 5301348 . T C 168.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=11662.55;QD=37.87;RankSumP=1.00000;SB=-4881.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.756A>G;refseq.codonCoord=252;refseq.end=5301348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T252T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-245;refseq.start=5301348;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 5301423 . A G 344.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=98.58;MQ0=0;OQ=6964.90;QD=40.97;RankSumP=1.00000;SB=-2870.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.681T>C;refseq.codonCoord=227;refseq.end=5301423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A227A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-320;refseq.start=5301423;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 5301478 . C G 210.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=7121.40;QD=48.78;RankSumP=1.00000;SB=-2829.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.626G>C;refseq.codonCoord=209;refseq.end=5301478;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C209S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-375;refseq.start=5301478;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 5301704 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=2;HaplotypeScore=8.51;MQ=98.66;MQ0=0;OQ=9556.55;QD=19.70;RankSumP=0.464255;SB=-3920.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.400C>T;refseq.codonCoord=134;refseq.end=5301704;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L134F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=455;refseq.start=5301704;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr11 5301746 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=353;Dels=0.00;HRun=0;HaplotypeScore=18.71;MQ=98.76;MQ0=0;OQ=13322.88;QD=37.74;RankSumP=1.00000;SB=-5110.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.358T>C;refseq.codonCoord=120;refseq.end=5301746;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C120R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=413;refseq.start=5301746;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr11 5302062 . G A 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=3;HaplotypeScore=1.16;MQ=98.64;MQ0=0;OQ=3656.20;QD=39.31;RankSumP=1.00000;SB=-682.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.42C>T;refseq.codonCoord=14;refseq.end=5302062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=97;refseq.name=NM_033180;refseq.name2=OR51B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G14G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=97;refseq.start=5302062;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr11 5321318 . C T 383.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=98.55;MQ0=0;OQ=4832.20;QD=42.39;RankSumP=1.00000;SB=-1083.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.13G>A;refseq.codonCoord=5;refseq.end=5321318;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=13;refseq.name=NM_001005567;refseq.name2=OR51B5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G5S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=13;refseq.start=5321318;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr11 5418567 . C A 379.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.93;MQ0=0;OQ=11016.05;QD=38.38;RankSumP=1.00000;SB=-3483.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.754G>T;refseq.codonCoord=252;refseq.end=5418567;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_001005288;refseq.name2=OR51I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A252S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-220;refseq.start=5418567;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 5431414 . G T 396.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=98.26;MQ0=0;OQ=6684.87;QD=35.18;RankSumP=1.00000;SB=-2372.73;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.120G>T;refseq.codonCoord=40;refseq.end=5431414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G40G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=201;refseq.start=5431414;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr11 5431746 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=477;Dels=0.00;HRun=1;HaplotypeScore=8.57;MQ=98.83;MQ0=0;OQ=11477.46;QD=24.06;RankSumP=0.218350;SB=-3700.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.452G>C;refseq.codonCoord=151;refseq.end=5431746;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R151P;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=533;refseq.start=5431746;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 5432010 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.386147;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.716A>C;refseq.codonCoord=239;refseq.end=5432010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N239T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-273;refseq.start=5432010;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr11 5432011 . C A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.0200101;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.717C>A;refseq.codonCoord=239;refseq.end=5432011;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N239K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-272;refseq.start=5432011;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr11 5432082 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=687;Dels=0.00;HRun=0;HaplotypeScore=13.56;MQ=98.03;MQ0=0;OQ=13788.96;QD=20.07;RankSumP=0.0825385;SB=-5854.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.788G>A;refseq.codonCoord=263;refseq.end=5432082;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R263H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-201;refseq.start=5432082;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 5432173 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=730;Dels=0.00;HRun=0;HaplotypeScore=40.80;MQ=98.52;MQ0=0;OQ=10656.90;QD=14.60;RankSumP=9.10223e-05;SB=-3696.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.879C>T;refseq.codonCoord=293;refseq.end=5432173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_001004754;refseq.name2=OR51I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S293S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-110;refseq.start=5432173;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 0/1 chr11 5466860 . A G 154.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.83;MQ0=0;OQ=17889.12;QD=37.90;RankSumP=1.00000;SB=-7133.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.348A>G;refseq.codonCoord=116;refseq.end=5466860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_001005163;refseq.name2=OR52D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S116S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=370;refseq.start=5466860;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr11 5466917 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=699;Dels=0.00;HRun=0;HaplotypeScore=18.59;MQ=98.78;MQ0=0;OQ=28494.04;QD=40.76;RankSumP=1.00000;SB=-9963.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.405C>T;refseq.codonCoord=135;refseq.end=5466917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_001005163;refseq.name2=OR52D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y135Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=427;refseq.start=5466917;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr11 5467073 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1071;Dels=0.00;HRun=0;HaplotypeScore=32.40;MQ=98.74;MQ0=0;OQ=38223.75;QD=35.69;RankSumP=1.00000;SB=-18680.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.561T>C;refseq.codonCoord=187;refseq.end=5467073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_001005163;refseq.name2=OR52D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I187I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-480;refseq.start=5467073;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/1 chr11 5467202 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=725;Dels=0.00;HRun=1;HaplotypeScore=16.59;MQ=98.79;MQ0=0;OQ=29480.59;QD=40.66;RankSumP=1.00000;SB=-14629.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.690T>C;refseq.codonCoord=230;refseq.end=5467202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_001005163;refseq.name2=OR52D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H230H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-351;refseq.start=5467202;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 5467264 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=558;Dels=0.00;HRun=2;HaplotypeScore=22.58;MQ=98.70;MQ0=0;OQ=11626.87;QD=20.84;RankSumP=0.0116659;SB=-3009.43;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.752T>C;refseq.codonCoord=251;refseq.end=5467264;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_001005163;refseq.name2=OR52D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I251T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-289;refseq.start=5467264;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr11 5485494 . C T 207.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=13.56;MQ=98.82;MQ0=0;OQ=4858.22;QD=18.98;RankSumP=0.0508982;SB=-657.11;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1871G>A;refseq.codonCoord=624;refseq.end=5485494;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1957;refseq.name=NM_017481;refseq.name2=UBQLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R624Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-389;refseq.start=5485494;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 5485715 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=3;HaplotypeScore=8.70;MQ=98.96;MQ0=0;OQ=1559.52;QD=10.19;RankSumP=0.312725;SB=-720.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1650A>G;refseq.codonCoord=550;refseq.end=5485715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_017481;refseq.name2=UBQLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A550A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-610;refseq.start=5485715;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 5486441 . G A 434.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=5582.08;QD=41.04;RankSumP=1.00000;SB=-2312.42;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.924C>T;refseq.codonCoord=308;refseq.end=5486441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1010;refseq.name=NM_017481;refseq.name2=UBQLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S308S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=960;refseq.start=5486441;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 5486688 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.677A>C;refseq.codonCoord=226;refseq.end=5486688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_017481;refseq.name2=UBQLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N226T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=713;refseq.start=5486688;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 5493113 . A C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=305;Dels=0.00;HRun=2;HaplotypeScore=13.64;MQ=98.86;MQ0=0;OQ=11306.59;QD=37.07;RankSumP=1.00000;SB=-5620.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1135T>G;refseq.codonCoord=379;refseq.end=5493113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_145053;refseq.name2=UBQLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.W379G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-915;refseq.start=5493113;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr11 5493424 . G A 233.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=1.33;MQ=99.00;MQ0=0;OQ=7277.35;QD=42.56;RankSumP=1.00000;SB=-3271.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.824C>T;refseq.codonCoord=275;refseq.end=5493424;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_145053;refseq.name2=UBQLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A275V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1109;refseq.start=5493424;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 5522606 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=2;HaplotypeScore=4.99;MQ=98.83;MQ0=0;OQ=2474.92;QD=11.96;RankSumP=0.295427;SB=-1211.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.724T>C;refseq.codonCoord=242;refseq.end=5522606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_001005289;refseq.name2=OR52H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C242R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-240;refseq.start=5522606;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr11 5522941 . T C 237.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.86;MQ0=0;OQ=9001.37;QD=17.28;RankSumP=0.0407355;SB=-3145.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.389A>G;refseq.codonCoord=130;refseq.end=5522941;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001005289;refseq.name2=OR52H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H130R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=389;refseq.start=5522941;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr11 5559014 . T A 172.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=10.61;MQ=98.68;MQ0=0;OQ=13421.39;QD=32.74;RankSumP=1.00000;SB=-3375.19;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.332T>A;refseq.codonCoord=111;refseq.end=5559014;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L111H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=332;refseq.start=5559014;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 5559191 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1125;Dels=0.00;HRun=0;HaplotypeScore=15.23;MQ=98.90;MQ0=0;OQ=42902.02;QD=38.14;RankSumP=1.00000;SB=-20722.71;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.509A>G;refseq.codonCoord=170;refseq.end=5559191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H170R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-500;refseq.start=5559191;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/1 chr11 5559255 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1078;Dels=0.00;HRun=0;HaplotypeScore=17.06;MQ=98.78;MQ0=0;OQ=44516.97;QD=41.30;RankSumP=1.00000;SB=-20011.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.573T>C;refseq.codonCoord=191;refseq.end=5559255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N191N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-436;refseq.start=5559255;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/1 chr11 5559366 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=771;Dels=0.00;HRun=1;HaplotypeScore=12.49;MQ=98.83;MQ0=0;OQ=29809.59;QD=38.66;RankSumP=1.00000;SB=-11876.22;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.684A>G;refseq.codonCoord=228;refseq.end=5559366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L228L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-325;refseq.start=5559366;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 5559504 . G C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=621;Dels=0.00;HRun=1;HaplotypeScore=6.99;MQ=98.80;MQ0=0;OQ=29365.55;QD=47.29;RankSumP=1.00000;SB=-13325.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.822G>C;refseq.codonCoord=274;refseq.end=5559504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A274A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-187;refseq.start=5559504;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 5559544 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=723;Dels=0.00;HRun=0;HaplotypeScore=9.06;MQ=98.78;MQ0=0;OQ=26771.41;QD=37.03;RankSumP=1.00000;SB=-10433.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.862G>A;refseq.codonCoord=288;refseq.end=5559544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=862;refseq.name=NM_001005162;refseq.name2=OR52B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V288I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-147;refseq.start=5559544;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 5582423 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=909.95;QD=12.30;RankSumP=0.142775;SB=-165.58;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.591A>G;refseq.codingCoordStr_2=c.591A>G;refseq.codingCoordStr_3=c.507A>G;refseq.codonCoord_1=197;refseq.codonCoord_2=197;refseq.codonCoord_3=169;refseq.end_1=5582423;refseq.end_2=5582423;refseq.end_3=5582423;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=833;refseq.mrnaCoord_2=835;refseq.mrnaCoord_3=639;refseq.name2_1=TRIM6;refseq.name2_2=TRIM6-TRIM34;refseq.name2_3=TRIM6;refseq.name_1=NM_001003818;refseq.name_2=NM_001003819;refseq.name_3=NM_058166;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K197K;refseq.proteinCoordStr_2=p.K197K;refseq.proteinCoordStr_3=p.K169K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=5582423;refseq.start_2=5582423;refseq.start_3=5582423;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 0/1 chr11 5588788 . G A 222.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=12.97;MQ=98.85;MQ0=0;OQ=8783.10;QD=19.47;RankSumP=0.158763;SB=-2987.62;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1191G>A;refseq.codingCoordStr_3=c.1107G>A;refseq.codonCoord_2=397;refseq.codonCoord_3=369;refseq.end_1=5610050;refseq.end_2=5588788;refseq.end_3=5588788;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1433;refseq.mrnaCoord_3=1239;refseq.name2_1=TRIM6-TRIM34;refseq.name2_2=TRIM6;refseq.name2_3=TRIM6;refseq.name_1=NM_001003819;refseq.name_2=NM_001003818;refseq.name_3=NM_058166;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L397L;refseq.proteinCoordStr_3=p.L369L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=206;refseq.spliceDist_3=206;refseq.start_1=5588378;refseq.start_2=5588788;refseq.start_3=5588788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/0 chr11 5656916 . T C 335.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.79;MQ0=0;OQ=5289.95;QD=39.77;RankSumP=1.00000;SB=-2020.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.477A>G;refseq.codingCoordStr_2=c.477A>G;refseq.codingCoordStr_3=c.477A>G;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.codonCoord_3=159;refseq.end_1=5656916;refseq.end_2=5656916;refseq.end_3=5656916;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=780;refseq.mrnaCoord_2=780;refseq.mrnaCoord_3=632;refseq.name2_1=TRIM5;refseq.name2_2=TRIM5;refseq.name2_3=TRIM5;refseq.name_1=NM_033034;refseq.name_2=NM_033092;refseq.name_3=NM_033093;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L159L;refseq.proteinCoordStr_2=p.L159L;refseq.proteinCoordStr_3=p.L159L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=5656916;refseq.start_2=5656916;refseq.start_3=5656916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr11 5657577 . C T 232.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=16.33;MQ=97.95;MQ0=1;OQ=6718.23;QD=20.61;RankSumP=0.135770;SB=-1694.86;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.407G>A;refseq.codingCoordStr_2=c.407G>A;refseq.codingCoordStr_3=c.407G>A;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.codonCoord_3=136;refseq.end_1=5657577;refseq.end_2=5657577;refseq.end_3=5657577;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=710;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=562;refseq.name2_1=TRIM5;refseq.name2_2=TRIM5;refseq.name2_3=TRIM5;refseq.name_1=NM_033034;refseq.name_2=NM_033092;refseq.name_3=NM_033093;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R136Q;refseq.proteinCoordStr_2=p.R136Q;refseq.proteinCoordStr_3=p.R136Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=5657577;refseq.start_2=5657577;refseq.start_3=5657577;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 0/1 chr11 5657976 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.8C>T;refseq.codingCoordStr_2=c.8C>T;refseq.codingCoordStr_3=c.8C>T;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.end_1=5657976;refseq.end_2=5657976;refseq.end_3=5657976;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=311;refseq.mrnaCoord_2=311;refseq.mrnaCoord_3=163;refseq.name2_1=TRIM5;refseq.name2_2=TRIM5;refseq.name2_3=TRIM5;refseq.name_1=NM_033034;refseq.name_2=NM_033092;refseq.name_3=NM_033093;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S3F;refseq.proteinCoordStr_2=p.S3F;refseq.proteinCoordStr_3=p.S3F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=5657976;refseq.start_2=5657976;refseq.start_3=5657976;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr11 5657985 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=30.54;MQ=97.71;MQ0=0;OQ=4025.46;QD=19.08;RankSumP=0.366322;SB=-840.31;SecondBestBaseQ=30;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.-2C>G;refseq.codingCoordStr_2=c.-2C>G;refseq.codingCoordStr_3=c.-2C>G;refseq.end_1=5657985;refseq.end_2=5657985;refseq.end_3=5657985;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=302;refseq.mrnaCoord_3=154;refseq.name2_1=TRIM5;refseq.name2_2=TRIM5;refseq.name2_3=TRIM5;refseq.name_1=NM_033034;refseq.name_2=NM_033092;refseq.name_3=NM_033093;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=5657985;refseq.start_2=5657985;refseq.start_3=5657985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 0/1 chr11 5674338 . T C 318.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.63;MQ0=0;OQ=4691.14;QD=18.04;RankSumP=0.0342372;SB=-1898.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.300T>C;refseq.codonCoord=100;refseq.end=5674338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_006074;refseq.name2=TRIM22;refseq.positionType=CDS;refseq.proteinCoordStr=p.H100H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-124;refseq.start=5674338;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 5675093 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=98.84;MQ0=0;OQ=1403.92;QD=11.41;RankSumP=0.0442708;SB=-502.45;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.463G>A;refseq.codonCoord=155;refseq.end=5675093;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_006074;refseq.name2=TRIM22;refseq.positionType=CDS;refseq.proteinCoordStr=p.D155N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=40;refseq.start=5675093;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 5676326 . G C 228.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.48;MQ0=0;OQ=1324.94;QD=32.32;RankSumP=1.00000;SB=-258.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.725G>C;refseq.codonCoord=242;refseq.end=5676326;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_006074;refseq.name2=TRIM22;refseq.positionType=CDS;refseq.proteinCoordStr=p.R242T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-26;refseq.start=5676326;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 5714638 . T C 318.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=5.61;MQ=98.81;MQ0=0;OQ=5242.74;QD=36.66;RankSumP=1.00000;SB=-2577.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.316T>C;refseq.codonCoord=106;refseq.end=5714638;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_001005180;refseq.name2=OR56B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C106R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=316;refseq.start=5714638;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 5714694 . A C 358.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=2.40;MQ=98.55;MQ0=0;OQ=7826.27;QD=40.34;RankSumP=1.00000;SB=-3189.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.372A>C;refseq.codonCoord=124;refseq.end=5714694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_001005180;refseq.name2=OR56B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=372;refseq.start=5714694;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr11 5714962 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=2;HaplotypeScore=10.95;MQ=98.88;MQ0=0;OQ=1676.75;QD=14.84;RankSumP=0.490145;SB=-702.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.640C>T;refseq.codonCoord=214;refseq.end=5714962;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_001005180;refseq.name2=OR56B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L214F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-336;refseq.start=5714962;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 5756044 . C T 259.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.83;MQ0=0;OQ=8078.21;QD=19.47;RankSumP=2.48187e-05;SB=-2489.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.397G>A;refseq.codonCoord=133;refseq.end=5756044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001001922;refseq.name2=OR52N5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=430;refseq.start=5756044;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=filterInsoap-gatk GT 0/1 chr11 5765806 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=1;HaplotypeScore=19.52;MQ=98.70;MQ0=0;OQ=8583.66;QD=19.42;RankSumP=0.142714;SB=-3042.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.817C>T;refseq.codonCoord=273;refseq.end=5765806;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_001001913;refseq.name2=OR52N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L273L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-147;refseq.start=5765806;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr11 5765884 . A T 343.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.67;MQ0=0;OQ=7765.31;QD=39.82;RankSumP=1.00000;SB=-2879.86;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.739T>A;refseq.codonCoord=247;refseq.end=5765884;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_001001913;refseq.name2=OR52N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F247I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-225;refseq.start=5765884;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 5766124 . G A 317.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=98.85;MQ0=0;OQ=11759.47;QD=40.55;RankSumP=1.00000;SB=-4857.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.499C>T;refseq.codonCoord=167;refseq.end=5766124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_001001913;refseq.name2=OR52N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R167C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-465;refseq.start=5766124;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 5766387 . G T 166.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=5.92;MQ=98.40;MQ0=0;OQ=1814.47;QD=15.64;RankSumP=0.430049;SB=-674.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.236C>A;refseq.codonCoord=79;refseq.end=5766387;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_001001913;refseq.name2=OR52N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T79N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=236;refseq.start=5766387;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr11 5766566 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=1;HaplotypeScore=16.77;MQ=97.80;MQ0=0;OQ=5311.37;QD=18.51;RankSumP=0.408235;SB=-1235.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57C>T;refseq.codonCoord=19;refseq.end=5766566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_001001913;refseq.name2=OR52N1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I19I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=57;refseq.start=5766566;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr11 5798432 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=30.37;MQ=98.79;MQ0=0;OQ=10631.32;QD=19.22;RankSumP=0.288192;SB=-3452.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.291C>T;refseq.codonCoord=97;refseq.end=5798432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_001005174;refseq.name2=OR52N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N97N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=291;refseq.start=5798432;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 5798886 . T G 322.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=6.30;MQ=98.95;MQ0=0;OQ=7748.40;QD=20.18;RankSumP=0.243903;SB=-3007.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.745T>G;refseq.codonCoord=249;refseq.end=5798886;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_001005174;refseq.name2=OR52N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S249A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-222;refseq.start=5798886;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr11 5798932 . A G 292.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=478;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.80;MQ0=0;OQ=9263.05;QD=19.38;RankSumP=0.403653;SB=-3191.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.791A>G;refseq.codonCoord=264;refseq.end=5798932;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_001005174;refseq.name2=OR52N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H264R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-176;refseq.start=5798932;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr11 5834555 . T A 288.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=98.68;MQ0=0;OQ=6623.43;QD=20.96;RankSumP=0.320578;SB=-1129.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.954A>T;refseq.codonCoord=318;refseq.end=5834555;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_001005168;refseq.name2=OR52E8;refseq.positionType=CDS;refseq.proteinCoordStr=p.*318Y;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=5834555;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr11 5862624 . G A 110.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.72;MQ0=0;OQ=23061.45;QD=42.01;RankSumP=1.00000;SB=-10228.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.526G>A;refseq.codonCoord=176;refseq.end=5862624;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V176I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-414;refseq.start=5862624;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 5862649 . G T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=529;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=98.67;MQ0=0;OQ=20043.66;QD=37.89;RankSumP=1.00000;SB=-9748.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.551G>T;refseq.codonCoord=184;refseq.end=5862649;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R184M;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-389;refseq.start=5862649;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr11 5862719 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=759;Dels=0.00;HRun=0;HaplotypeScore=14.50;MQ=98.89;MQ0=0;OQ=15289.11;QD=20.14;RankSumP=0.464988;SB=-5015.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=5862719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y207Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-319;refseq.start=5862719;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr11 5862768 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=886;Dels=0.00;HRun=0;HaplotypeScore=19.99;MQ=98.82;MQ0=0;OQ=34224.28;QD=38.63;RankSumP=1.00000;SB=-15804.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.670A>C;refseq.codonCoord=224;refseq.end=5862768;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R224R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-270;refseq.start=5862768;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr11 5862779 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=844;Dels=0.00;HRun=0;HaplotypeScore=16.04;MQ=98.81;MQ0=0;OQ=18569.32;QD=22.00;RankSumP=1.38590e-05;SB=-6997.58;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.681T>G;refseq.codonCoord=227;refseq.end=5862779;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F227L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-259;refseq.start=5862779;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 1/0 chr11 5862781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=830;Dels=0.00;HRun=0;HaplotypeScore=20.03;MQ=98.81;MQ0=0;OQ=15957.19;QD=19.23;RankSumP=0.0541324;SB=-5972.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.683G>A;refseq.codonCoord=228;refseq.end=5862781;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R228H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-257;refseq.start=5862781;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 5862867 . T C 344.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=8.49;MQ=98.86;MQ0=0;OQ=8774.80;QD=19.54;RankSumP=0.272453;SB=-2857.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.769T>C;refseq.codonCoord=257;refseq.end=5862867;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_001005165;refseq.name2=OR52E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F257L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-171;refseq.start=5862867;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr11 5925304 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=593;Dels=0.00;HRun=0;HaplotypeScore=34.76;MQ=95.28;MQ0=2;OQ=9451.65;QD=15.94;RankSumP=0.0938783;SB=-2014.59;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.152T>C;refseq.codonCoord=51;refseq.end=5925304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_001003443;refseq.name2=OR56A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M51T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=152;refseq.start=5925304;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 6004632 . T C 282.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=505;Dels=0.00;HRun=0;HaplotypeScore=16.30;MQ=98.67;MQ0=0;OQ=9804.79;QD=19.42;RankSumP=0.359425;SB=-2662.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.879A>G;refseq.codonCoord=293;refseq.end=6004632;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_001001917;refseq.name2=OR56A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A293A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-156;refseq.start=6004632;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 6004881 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.630T>G;refseq.codonCoord=210;refseq.end=6004881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_001001917;refseq.name2=OR56A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G210G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-405;refseq.start=6004881;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 6086413 . C T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=403;Dels=0.00;HRun=2;HaplotypeScore=8.59;MQ=98.74;MQ0=0;OQ=16981.31;QD=42.14;RankSumP=1.00000;SB=-6671.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.829C>T;refseq.codonCoord=277;refseq.end=6086413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_001005181;refseq.name2=OR56B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P277S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-132;refseq.start=6086413;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 6177745 . A G 261.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=9.19;MQ=98.73;MQ0=0;OQ=5099.05;QD=14.91;RankSumP=0.356418;SB=-1380.78;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.716A>G;refseq.codonCoord=239;refseq.end=6177745;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_001005178;refseq.name2=OR52W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H239R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-248;refseq.start=6177745;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr11 6177790 . T A 334.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.88;MQ0=0;OQ=4262.69;QD=17.40;RankSumP=0.0652177;SB=-1258.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.761T>A;refseq.codonCoord=254;refseq.end=6177790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_001005178;refseq.name2=OR52W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L254Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-203;refseq.start=6177790;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr11 6188307 . C T 214.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.87;MQ0=0;OQ=840.56;QD=18.68;RankSumP=0.662182;SB=-405.92;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.724C>T;refseq.codonCoord=242;refseq.end=6188307;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_173525;refseq.name2=C11orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.P242S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-148;refseq.start=6188307;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr11 6195715 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=46.33;MQ=97.92;MQ0=0;OQ=4103.30;QD=12.78;RankSumP=0.114803;SB=-201.58;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1677T>C;refseq.codingCoordStr_2=c.1719T>C;refseq.codonCoord_1=559;refseq.codonCoord_2=573;refseq.end_1=6195715;refseq.end_2=6195715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2036;refseq.mrnaCoord_2=2078;refseq.name2_1=FAM160A2;refseq.name2_2=FAM160A2;refseq.name_1=NM_001098794;refseq.name_2=NM_032127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R559R;refseq.proteinCoordStr_2=p.R573R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=242;refseq.spliceDist_2=242;refseq.start_1=6195715;refseq.start_2=6195715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr11 6195920 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.45;MQ0=0;OQ=441.23;QD=10.03;RankSumP=0.656731;SB=-218.86;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1472C>T;refseq.codingCoordStr_2=c.1514C>T;refseq.codonCoord_1=491;refseq.codonCoord_2=505;refseq.end_1=6195920;refseq.end_2=6195920;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1831;refseq.mrnaCoord_2=1873;refseq.name2_1=FAM160A2;refseq.name2_2=FAM160A2;refseq.name_1=NM_001098794;refseq.name_2=NM_032127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T491M;refseq.proteinCoordStr_2=p.T505M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=6195920;refseq.start_2=6195920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr11 6200380 . A G 183.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=98.79;MQ0=0;OQ=2920.15;QD=14.18;RankSumP=0.0455004;SB=-1442.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1059T>C;refseq.codingCoordStr_2=c.1059T>C;refseq.codonCoord_1=353;refseq.codonCoord_2=353;refseq.end_1=6200380;refseq.end_2=6200380;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1418;refseq.mrnaCoord_2=1418;refseq.name2_1=FAM160A2;refseq.name2_2=FAM160A2;refseq.name_1=NM_001098794;refseq.name_2=NM_032127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y353Y;refseq.proteinCoordStr_2=p.Y353Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=6200380;refseq.start_2=6200380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr11 6200943 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.879A>G;refseq.codingCoordStr_2=c.879A>G;refseq.codonCoord_1=293;refseq.codonCoord_2=293;refseq.end_1=6200943;refseq.end_2=6200943;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1238;refseq.mrnaCoord_2=1238;refseq.name2_1=FAM160A2;refseq.name2_2=FAM160A2;refseq.name_1=NM_001098794;refseq.name_2=NM_032127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G293G;refseq.proteinCoordStr_2=p.G293G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=6200943;refseq.start_2=6200943;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 6201768 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.425G>C;refseq.codingCoordStr_2=c.425G>C;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.end_1=6201768;refseq.end_2=6201768;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=784;refseq.name2_1=FAM160A2;refseq.name2_2=FAM160A2;refseq.name_1=NM_001098794;refseq.name_2=NM_032127;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R142P;refseq.proteinCoordStr_2=p.R142P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=287;refseq.spliceDist_2=287;refseq.start_1=6201768;refseq.start_2=6201768;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr11 6219291 . G A 141.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=9.05;MQ=98.84;MQ0=0;OQ=2243.30;QD=16.99;RankSumP=0.341051;SB=-875.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.972G>A;refseq.codonCoord=324;refseq.end=6219291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1079;refseq.name=NM_001037329;refseq.name2=CNGA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q324Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=55;refseq.start=6219291;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr11 6297101 . A T 197.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.90;MQ0=0;OQ=496.50;QD=17.12;RankSumP=0.436526;SB=-262.65;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.654T>A;refseq.codonCoord=218;refseq.end=6297101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_145040;refseq.name2=PRKCDBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A218A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=270;refseq.start=6297101;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr11 6297282 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.59;MQ0=0;OQ=302.65;QD=7.57;RankSumP=0.735602;SB=-38.93;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.473T>C;refseq.codonCoord=158;refseq.end=6297282;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_145040;refseq.name2=PRKCDBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L158P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=89;refseq.start=6297282;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr11 6298151 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=6.59068e-05;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.132A>G;refseq.codonCoord=44;refseq.end=6298151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=166;refseq.name=NM_145040;refseq.name2=PRKCDBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G44G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=166;refseq.start=6298151;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 6298260 . C G 223.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=98.62;MQ0=0;OQ=1590.67;QD=35.35;RankSumP=1.00000;SB=-744.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.23G>C;refseq.codonCoord=8;refseq.end=6298260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_145040;refseq.name2=PRKCDBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=57;refseq.start=6298260;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 6368511 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=95.05;MQ0=0;OQ=383.15;QD=12.77;RankSumP=0.544883;SB=-156.70;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.107T>C;refseq.codingCoordStr_3=c.107T>C;refseq.codonCoord_2=36;refseq.codonCoord_3=36;refseq.end_1=6368511;refseq.end_2=6368511;refseq.end_3=6368511;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=281;refseq.mrnaCoord_2=281;refseq.mrnaCoord_3=281;refseq.name2_1=SMPD1;refseq.name2_2=SMPD1;refseq.name2_3=SMPD1;refseq.name_1=NR_027400;refseq.name_2=NM_000543;refseq.name_3=NM_001007593;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V36A;refseq.proteinCoordStr_3=p.V36A;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-212;refseq.spliceDist_2=-212;refseq.spliceDist_3=-212;refseq.start_1=6368511;refseq.start_2=6368511;refseq.start_3=6368511;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr11 6369942 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=154;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.68;MQ0=0;OQ=2604.45;QD=16.91;RankSumP=0.0424709;SB=-1197.62;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1071C>T;refseq.codingCoordStr_3=c.1071C>T;refseq.codonCoord_2=357;refseq.codonCoord_3=357;refseq.end_1=6369942;refseq.end_2=6369942;refseq.end_3=6369942;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=1245;refseq.mrnaCoord_3=1245;refseq.name2_1=SMPD1;refseq.name2_2=SMPD1;refseq.name2_3=SMPD1;refseq.name_1=NR_027400;refseq.name_2=NM_000543;refseq.name_3=NM_001007593;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A357A;refseq.proteinCoordStr_3=p.A357A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-61;refseq.start_1=6369942;refseq.start_2=6369942;refseq.start_3=6369942;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chr11 6373608 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1949T>G;refseq.codingCoordStr_2=c.1943T>G;refseq.codonCoord_1=650;refseq.codonCoord_2=648;refseq.end_1=6373608;refseq.end_2=6373608;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2049;refseq.mrnaCoord_2=2026;refseq.name2_1=APBB1;refseq.name2_2=APBB1;refseq.name_1=NM_001164;refseq.name_2=NM_145689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V650G;refseq.proteinCoordStr_2=p.V648G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=6373608;refseq.start_2=6373608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 6373740 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1817T>G;refseq.codingCoordStr_2=c.1811T>G;refseq.codonCoord_1=606;refseq.codonCoord_2=604;refseq.end_1=6373740;refseq.end_2=6373740;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1917;refseq.mrnaCoord_2=1894;refseq.name2_1=APBB1;refseq.name2_2=APBB1;refseq.name_1=NM_001164;refseq.name_2=NM_145689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V606G;refseq.proteinCoordStr_2=p.V604G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=6373740;refseq.start_2=6373740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 6379406 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1477A>C;refseq.codingCoordStr_2=c.1471A>C;refseq.codonCoord_1=493;refseq.codonCoord_2=491;refseq.end_1=6379406;refseq.end_2=6379406;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1577;refseq.mrnaCoord_2=1554;refseq.name2_1=APBB1;refseq.name2_2=APBB1;refseq.name_1=NM_001164;refseq.name_2=NM_145689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T493P;refseq.proteinCoordStr_2=p.T491P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=6379406;refseq.start_2=6379406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr11 6379425 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1458A>C;refseq.codingCoordStr_2=c.1452A>C;refseq.codonCoord_1=486;refseq.codonCoord_2=484;refseq.end_1=6379425;refseq.end_2=6379425;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1558;refseq.mrnaCoord_2=1535;refseq.name2_1=APBB1;refseq.name2_2=APBB1;refseq.name_1=NM_001164;refseq.name_2=NM_145689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A486A;refseq.proteinCoordStr_2=p.A484A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=6379425;refseq.start_2=6379425;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 6381186 . T C 106.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1118.78;QD=17.76;RankSumP=0.294276;SB=-249.70;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.979A>G;refseq.codingCoordStr_2=c.979A>G;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=6381186;refseq.end_2=6381186;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1079;refseq.mrnaCoord_2=1062;refseq.name2_1=APBB1;refseq.name2_2=APBB1;refseq.name_1=NM_001164;refseq.name_2=NM_145689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M327V;refseq.proteinCoordStr_2=p.M327V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=6381186;refseq.start_2=6381186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr11 6409445 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr11;refseq.codingCoordStr=c.1129+2;refseq.end=6409445;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_000613;refseq.name2=HPX;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=6409445;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr11 6409539 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00142557;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1037A>G;refseq.codonCoord=346;refseq.end=6409539;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_000613;refseq.name2=HPX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E346G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=71;refseq.start=6409539;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 6427125 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2069A>C;refseq.codingCoordStr_2=c.2069A>C;refseq.codonCoord_1=690;refseq.codonCoord_2=690;refseq.end_1=6427125;refseq.end_2=6427125;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2456;refseq.mrnaCoord_2=2291;refseq.name2_1=TRIM3;refseq.name2_2=TRIM3;refseq.name_1=NM_006458;refseq.name_2=NM_033278;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N690T;refseq.proteinCoordStr_2=p.N690T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=6427125;refseq.start_2=6427125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr11 6476218 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=648.52;QD=11.38;RankSumP=0.445192;SB=-252.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.197G>A;refseq.codingCoordStr_2=c.197G>A;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.end_1=6476218;refseq.end_2=6476218;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=761;refseq.mrnaCoord_2=864;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R66Q;refseq.proteinCoordStr_2=p.R66Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-550;refseq.spliceDist_2=-550;refseq.start_1=6476218;refseq.start_2=6476218;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr11 6476591 . G T 114.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=6.95;MQ=99.00;MQ0=0;OQ=1976.58;QD=16.20;RankSumP=0.402831;SB=-480.57;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.570G>T;refseq.codingCoordStr_2=c.570G>T;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=6476591;refseq.end_2=6476591;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1134;refseq.mrnaCoord_2=1237;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L190L;refseq.proteinCoordStr_2=p.L190L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-177;refseq.spliceDist_2=-177;refseq.start_1=6476591;refseq.start_2=6476591;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr11 6476740 . T A 157.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.84;MQ0=0;OQ=2353.86;QD=12.93;RankSumP=0.00624197;SB=-981.89;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.719T>A;refseq.codingCoordStr_2=c.719T>A;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=6476740;refseq.end_2=6476740;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1283;refseq.mrnaCoord_2=1386;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V240E;refseq.proteinCoordStr_2=p.V240E;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=6476740;refseq.start_2=6476740;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=filterInsoap-gatk GT 1/0 chr11 6480715 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.903T>C;refseq.codingCoordStr_2=c.903T>C;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.end_1=6480715;refseq.end_2=6480715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1467;refseq.mrnaCoord_2=1570;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A301A;refseq.proteinCoordStr_2=p.A301A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=6480715;refseq.start_2=6480715;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 6486854 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=812;Dels=0.00;HRun=3;HaplotypeScore=21.52;MQ=98.80;MQ0=0;OQ=14341.28;QD=17.66;RankSumP=0.0159142;SB=-4677.06;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1089C>T;refseq.codingCoordStr_2=c.1089C>T;refseq.codonCoord_1=363;refseq.codonCoord_2=363;refseq.end_1=6486854;refseq.end_2=6486854;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1653;refseq.mrnaCoord_2=1756;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F363F;refseq.proteinCoordStr_2=p.F363F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=6486854;refseq.start_2=6486854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr11 6489095 . C T 161.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.76;MQ0=0;OQ=2686.94;QD=14.07;RankSumP=0.0946660;SB=-1367.23;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1252C>T;refseq.codingCoordStr_2=c.1252C>T;refseq.codonCoord_1=418;refseq.codonCoord_2=418;refseq.end_1=6489095;refseq.end_2=6489095;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1816;refseq.mrnaCoord_2=1919;refseq.name2_1=DNHD1;refseq.name2_2=DNHD1;refseq.name_1=NM_144666;refseq.name_2=NM_173589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H418Y;refseq.proteinCoordStr_2=p.H418Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=6489095;refseq.start_2=6489095;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr11 6578547 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1082T>G;refseq.codonCoord=361;refseq.end=6578547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_015324;refseq.name2=RRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V361G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=6578547;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 6579290 . G A 287.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.84;MQ0=0;OQ=9820.61;QD=37.34;RankSumP=1.00000;SB=-2856.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.582C>T;refseq.codonCoord=194;refseq.end=6579290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_015324;refseq.name2=RRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N194N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=119;refseq.start=6579290;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr11 6587592 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=2;HaplotypeScore=13.90;MQ=98.58;MQ0=0;OQ=5150.83;QD=18.27;RankSumP=0.126184;SB=-1139.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.918C>T;refseq.codingCoordStr_2=c.918C>T;refseq.codingCoordStr_3=c.918C>T;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.codonCoord_3=306;refseq.end_1=6587592;refseq.end_2=6587592;refseq.end_3=6587592;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1053;refseq.mrnaCoord_2=1213;refseq.mrnaCoord_3=1099;refseq.name2_1=ILK;refseq.name2_2=ILK;refseq.name2_3=ILK;refseq.name_1=NM_001014794;refseq.name_2=NM_001014795;refseq.name_3=NM_004517;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A306A;refseq.proteinCoordStr_2=p.A306A;refseq.proteinCoordStr_3=p.A306A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.start_1=6587592;refseq.start_2=6587592;refseq.start_3=6587592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chr11 6589026 . C T 225.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=98.89;MQ0=0;OQ=3866.25;QD=19.33;RankSumP=0.363708;SB=-1335.73;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.537G>A;refseq.codonCoord=179;refseq.end=6589026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_006284;refseq.name2=TAF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T179T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-31;refseq.start=6589026;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr11 6594961 . C T 188.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=340;Dels=0.00;HRun=1;HaplotypeScore=4.91;MQ=98.76;MQ0=0;OQ=6356.12;QD=18.69;RankSumP=0.0444848;SB=-1658.70;SecondBestBaseQ=31;refseq.chr=chr11;refseq.codingCoordStr=c.509-1;refseq.end=6594961;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_000391;refseq.name2=TPP1;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=6594961;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr11 6746505 . C A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=15.05;MQ=64.73;MQ0=114;OQ=10614.13;QD=27.08;RankSumP=1.00000;SB=-4680.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.260G>T;refseq.codonCoord=87;refseq.end=6746505;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_001004490;refseq.name2=OR2AG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R87L;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=260;refseq.start=6746505;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr11 6746682 . T C 323.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=94.29;MQ0=0;OQ=9844.82;QD=39.38;RankSumP=1.00000;SB=-4656.15;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.83A>G;refseq.codonCoord=28;refseq.end=6746682;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=83;refseq.name=NM_001004490;refseq.name2=OR2AG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y28C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=83;refseq.start=6746682;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr11 6763072 . T C 271.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=693;Dels=0.00;HRun=0;HaplotypeScore=15.49;MQ=64.48;MQ0=293;OQ=14719.53;QD=21.24;RankSumP=1.00000;SB=-3872.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=6763072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_001004489;refseq.name2=OR2AG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V76V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=249;refseq.start=6763072;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr11 6763403 . G T 111.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=352;Dels=0.00;HRun=1;HaplotypeScore=9.66;MQ=98.62;MQ0=0;OQ=13403.46;QD=38.08;RankSumP=1.00000;SB=-6633.97;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.559G>T;refseq.codonCoord=187;refseq.end=6763403;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=580;refseq.name=NM_001004489;refseq.name2=OR2AG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V187L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-417;refseq.start=6763403;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 6763739 . C G 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=3;HaplotypeScore=20.37;MQ=78.46;MQ0=100;OQ=12635.00;QD=35.19;RankSumP=1.00000;SB=-5679.27;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.895C>G;refseq.codonCoord=299;refseq.end=6763739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_001004489;refseq.name2=OR2AG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R299G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-81;refseq.start=6763739;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr11 6773354 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=11.27;MQ=98.83;MQ0=0;OQ=18302.39;QD=41.50;RankSumP=1.00000;SB=-7397.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.162T>C;refseq.codonCoord=54;refseq.end=6773354;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_003696;refseq.name2=OR6A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S54S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=362;refseq.start=6773354;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 6847961 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=742;Dels=0.00;HRun=0;HaplotypeScore=18.60;MQ=85.65;MQ0=35;OQ=26370.61;QD=35.54;RankSumP=1.00000;SB=-11485.72;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.400G>A;refseq.codonCoord=134;refseq.end=6847961;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_001004460;refseq.name2=OR10A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A134T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=400;refseq.start=6847961;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 6855071 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=12006.99;QD=40.56;RankSumP=1.00000;SB=-5943.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.617T>C;refseq.codonCoord=206;refseq.end=6855071;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_207186;refseq.name2=OR10A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-356;refseq.start=6855071;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr11 6869404 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.904G>T;refseq.codonCoord=302;refseq.end=6869404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_003700;refseq.name2=OR2D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V302L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-24;refseq.start=6869404;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr11 6869703 . A G 402.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.45;MQ0=0;OQ=8793.07;QD=37.10;RankSumP=1.00000;SB=-3267.38;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.605T>C;refseq.codonCoord=202;refseq.end=6869703;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_003700;refseq.name2=OR2D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M202T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-323;refseq.start=6869703;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 6869820 . A G 391.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=98.79;MQ0=0;OQ=11386.55;QD=41.26;RankSumP=1.00000;SB=-2917.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.488T>C;refseq.codonCoord=163;refseq.end=6869820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_003700;refseq.name2=OR2D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I163T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-440;refseq.start=6869820;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 6899052 . C A 299.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.80;MQ0=0;OQ=10241.80;QD=37.52;RankSumP=1.00000;SB=-4784.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.244C>A;refseq.codonCoord=82;refseq.end=6899052;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_001004684;refseq.name2=OR2D3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82I;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=244;refseq.start=6899052;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 6933564 . A T 298.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=6.87;MQ=98.81;MQ0=0;OQ=8485.91;QD=19.11;RankSumP=0.0383252;SB=-3247.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.780A>T;refseq.codonCoord=260;refseq.end=6933564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_013250;refseq.name2=ZNF215;refseq.positionType=CDS;refseq.proteinCoordStr=p.G260G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=68;refseq.start=6933564;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr11 6933751 . G C 152.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.54;MQ0=0;OQ=1713.62;QD=13.93;RankSumP=0.454372;SB=-842.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.967G>C;refseq.codonCoord=323;refseq.end=6933751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_013250;refseq.name2=ZNF215;refseq.positionType=CDS;refseq.proteinCoordStr=p.V323L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=255;refseq.start=6933751;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 6978736 . A G 248.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=379;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=98.78;MQ0=0;OQ=14730.28;QD=38.87;RankSumP=1.00000;SB=-5401.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.754T>C;refseq.codonCoord=252;refseq.end=6978736;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_013249;refseq.name2=ZNF214;refseq.positionType=CDS;refseq.proteinCoordStr=p.C252R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=627;refseq.start=6978736;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr11 6978936 . A C 238.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=12.41;MQ=98.87;MQ0=0;OQ=14292.59;QD=40.72;RankSumP=1.00000;SB=-5851.83;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.554T>G;refseq.codonCoord=185;refseq.end=6978936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_013249;refseq.name2=ZNF214;refseq.positionType=CDS;refseq.proteinCoordStr=p.I185R;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=427;refseq.start=6978936;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr11 7016536 . A C 294.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.93;MQ0=0;OQ=9852.87;QD=40.38;RankSumP=1.00000;SB=-4717.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.143A>C;refseq.codonCoord=48;refseq.end=7016536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_176822;refseq.name2=NLRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N48T;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-147;refseq.start=7016536;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr11 7020331 . C T 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=98.81;MQ0=0;OQ=14213.17;QD=42.05;RankSumP=1.00000;SB=-4914.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.498C>T;refseq.codonCoord=166;refseq.end=7020331;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_176822;refseq.name2=NLRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.F166F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=137;refseq.start=7020331;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 7027607 . G A 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=701;Dels=0.00;HRun=1;HaplotypeScore=5.02;MQ=98.84;MQ0=0;OQ=30768.75;QD=43.89;RankSumP=1.00000;SB=-13286.71;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2253G>A;refseq.codonCoord=751;refseq.end=7027607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2576;refseq.name=NM_176822;refseq.name2=NLRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E751E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-39;refseq.start=7027607;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr11 7067327 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.400A>G;refseq.codonCoord=134;refseq.end=7067327;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_014469;refseq.name2=RBMXL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T134A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=587;refseq.start=7067327;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr11 7281051 . T C 119.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=3.64;MQ=98.60;MQ0=0;OQ=3397.03;QD=32.35;RankSumP=1.00000;SB=-1682.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.351T>C;refseq.codonCoord=117;refseq.end=7281051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_175733;refseq.name2=SYT9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D117D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-147;refseq.start=7281051;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 7613385 . G A 313.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=6.96;MQ=98.85;MQ0=0;OQ=7332.58;QD=22.22;RankSumP=0.405396;SB=-2726.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1221G>A;refseq.codonCoord=407;refseq.end=7613385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P407P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-16;refseq.start=7613385;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr11 7617628 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=8.06113e-05;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1326T>C;refseq.codonCoord=442;refseq.end=7617628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1714;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P442P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-50;refseq.start=7617628;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 7619307 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1397A>G;refseq.codonCoord=466;refseq.end=7619307;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D466G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=22;refseq.start=7619307;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 7619308 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=62.62;MQ=98.35;MQ0=0;OQ=4525.43;QD=10.62;RankSumP=0.425296;SB=-1126.33;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1398C>T;refseq.codonCoord=466;refseq.end=7619308;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1786;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D466D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=23;refseq.start=7619308;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 7627016 . A G 275.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=8610.03;QD=38.44;RankSumP=1.00000;SB=-3467.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1972A>G;refseq.codonCoord=658;refseq.end=7627016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2360;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R658G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-27;refseq.start=7627016;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr11 7629591 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=379;Dels=0.00;HRun=2;HaplotypeScore=17.08;MQ=98.60;MQ0=0;OQ=6554.28;QD=17.29;RankSumP=0.130862;SB=-1933.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2376G>A;refseq.codonCoord=792;refseq.end=7629591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2764;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E792E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-61;refseq.start=7629591;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr11 7630959 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2565C>A;refseq.codonCoord=855;refseq.end=7630959;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2953;refseq.name=NM_003621;refseq.name2=PPFIBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y855*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=129;refseq.start=7630959;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr11 7643250 . T C 135.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.17;MQ0=0;OQ=744.41;QD=14.32;RankSumP=0.120024;SB=-219.59;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.762A>G;refseq.codonCoord=254;refseq.end=7643250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_016229;refseq.name2=CYB5R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L254L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=104;refseq.start=7643250;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 7644291 . T C 257.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=99.00;MQ0=0;OQ=2585.21;QD=14.94;RankSumP=0.446114;SB=-1200.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.625A>G;refseq.codonCoord=209;refseq.end=7644291;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_016229;refseq.name2=CYB5R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N209D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-34;refseq.start=7644291;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr11 7803784 . T C 269.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=3760.27;QD=41.78;RankSumP=1.00000;SB=-941.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.312A>G;refseq.codonCoord=104;refseq.end=7803784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_153445;refseq.name2=OR5P3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V104V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=312;refseq.start=7803784;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 7804042 . A G 211.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=4031.86;QD=38.77;RankSumP=1.00000;SB=-1799.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.54T>C;refseq.codonCoord=18;refseq.end=7804042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=54;refseq.name=NM_153445;refseq.name2=OR5P3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S18S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=54;refseq.start=7804042;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 7804048 . C T 419.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=4492.19;QD=42.78;RankSumP=1.00000;SB=-2063.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.48G>A;refseq.codonCoord=16;refseq.end=7804048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_153445;refseq.name2=OR5P3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=48;refseq.start=7804048;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr11 7905926 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=578;Dels=0.00;HRun=1;HaplotypeScore=7.90;MQ=98.47;MQ0=0;OQ=22633.66;QD=39.16;RankSumP=1.00000;SB=-9055.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.860T>C;refseq.codonCoord=287;refseq.end=7905926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_001004461;refseq.name2=OR10A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L287P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-86;refseq.start=7905926;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 7906367 . A C 156.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.52;MQ0=0;OQ=1855.88;QD=18.02;RankSumP=1.89039e-05;SB=-595.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.419T>G;refseq.codonCoord=140;refseq.end=7906367;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_001004461;refseq.name2=OR10A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V140G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=419;refseq.start=7906367;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr11 7906436 . G A 282.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=15.71;MQ=97.36;MQ0=0;OQ=5919.56;QD=18.85;RankSumP=0.387513;SB=-1886.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.350C>T;refseq.codonCoord=117;refseq.end=7906436;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_001004461;refseq.name2=OR10A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A117V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=350;refseq.start=7906436;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr11 7906600 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=713;Dels=0.00;HRun=1;HaplotypeScore=7.60;MQ=98.82;MQ0=0;OQ=14594.93;QD=20.47;RankSumP=0.271077;SB=-6019.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.186T>C;refseq.codonCoord=62;refseq.end=7906600;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_001004461;refseq.name2=OR10A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F62F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=186;refseq.start=7906600;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr11 7938670 . G A 248.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.95;MQ0=0;OQ=1876.64;QD=15.38;RankSumP=0.00447929;SB=-903.32;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1065C>T;refseq.codonCoord=355;refseq.end=7938670;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_176821;refseq.name2=NLRP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G355G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=776;refseq.start=7938670;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr11 7971055 . C T 339.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=93.42;MQ0=3;OQ=5281.70;QD=37.73;RankSumP=1.00000;SB=-2594.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.561C>T;refseq.codonCoord=187;refseq.end=7971055;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_003754;refseq.name2=EIF3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.H187H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=46;refseq.start=7971055;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr11 8067786 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.255+2;refseq.codingCoordStr_2=c.90+2;refseq.end_1=8067786;refseq.end_2=8067786;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=TUB;refseq.name2_2=TUB;refseq.name_1=NM_003320;refseq.name_2=NM_177972;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=8067786;refseq.start_2=8067786;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr11 8078667 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=297;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=98.54;MQ0=0;OQ=4688.57;QD=15.79;RankSumP=2.40075e-05;SB=-1800.83;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1323C>T;refseq.codingCoordStr_2=c.1158C>T;refseq.codonCoord_1=441;refseq.codonCoord_2=386;refseq.end_1=8078667;refseq.end_2=8078667;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1564;refseq.mrnaCoord_2=1307;refseq.name2_1=TUB;refseq.name2_2=TUB;refseq.name_1=NM_003320;refseq.name_2=NM_177972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S441S;refseq.proteinCoordStr_2=p.S386S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=8078667;refseq.start_2=8078667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=filterInsoap-gatk GT 0/1 chr11 8088877 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=474;Dels=0.00;HRun=1;HaplotypeScore=9.68;MQ=98.49;MQ0=0;OQ=8875.74;QD=18.73;RankSumP=0.168897;SB=-3668.13;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.508G>A;refseq.codingCoordStr_2=c.1051G>A;refseq.codonCoord_1=170;refseq.codonCoord_2=351;refseq.end_1=8088877;refseq.end_2=8088877;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=562;refseq.mrnaCoord_2=1105;refseq.name2_1=RIC3;refseq.name2_2=RIC3;refseq.name_1=NM_001135109;refseq.name_2=NM_024557;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D170N;refseq.proteinCoordStr_2=p.D351N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=384;refseq.spliceDist_2=384;refseq.start_1=8088877;refseq.start_2=8088877;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr11 8116433 . C T 189.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=98.70;MQ0=0;OQ=8245.94;QD=17.73;RankSumP=0.0188943;SB=-3241.29;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.389G>A;refseq.codonCoord_2=130;refseq.end_1=8146978;refseq.end_2=8116433;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=443;refseq.name2_1=RIC3;refseq.name2_2=RIC3;refseq.name_1=NM_001135109;refseq.name_2=NM_024557;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C130Y;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=38;refseq.start_1=8089271;refseq.start_2=8116433;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr11 8391653 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=862;Dels=0.00;HRun=0;HaplotypeScore=13.69;MQ=98.55;MQ0=0;OQ=15152.30;QD=17.58;RankSumP=3.22131e-07;SB=-6107.59;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1309G>A;refseq.codonCoord=437;refseq.end=8391653;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_030906;refseq.name2=STK33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A437T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-36;refseq.start=8391653;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr11 8391654 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=870;Dels=0.00;HRun=1;HaplotypeScore=9.86;MQ=98.55;MQ0=0;OQ=15171.95;QD=17.44;RankSumP=0.214447;SB=-6092.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1308T>G;refseq.codonCoord=436;refseq.end=8391654;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_030906;refseq.name2=STK33;refseq.positionType=CDS;refseq.proteinCoordStr=p.D436E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-37;refseq.start=8391654;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr11 8442886 . C A 302.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.48;MQ0=0;OQ=7547.53;QD=18.92;RankSumP=0.209979;SB=-2679.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.399G>T;refseq.codonCoord=133;refseq.end=8442886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_030906;refseq.name2=STK33;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-55;refseq.start=8442886;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr11 8663659 . G A 220.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=8.34;MQ=98.68;MQ0=0;OQ=5272.38;QD=21.43;RankSumP=0.198896;SB=-1575.46;SecondBestBaseQ=31;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.end_1=8663790;refseq.end_2=8663659;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=98;refseq.name2_1=RPL27A;refseq.name2_2=SNORA45;refseq.name_1=NM_000990;refseq.name_2=NR_002977;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-34;refseq.start_1=8663026;refseq.start_2=8663659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr11 8663809 . C T 177.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.23;MQ0=0;OQ=702.99;QD=19.53;RankSumP=0.465629;SB=-265.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.327C>T;refseq.codonCoord=109;refseq.end=8663809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_000990;refseq.name2=RPL27A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y109Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=8663809;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr11 8708216 . G C 229.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.51;MQ0=0;OQ=3993.21;QD=48.11;RankSumP=1.00000;SB=-1925.20;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1197C>G;refseq.codingCoordStr_3=c.1197C>G;refseq.codonCoord_2=399;refseq.codonCoord_3=399;refseq.end_1=8728733;refseq.end_2=8708216;refseq.end_3=8708216;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1583;refseq.mrnaCoord_3=1383;refseq.name2_1=ST5;refseq.name2_2=ST5;refseq.name2_3=ST5;refseq.name_1=NM_139157;refseq.name_2=NM_005418;refseq.name_3=NM_213618;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D399E;refseq.proteinCoordStr_3=p.D399E;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-144;refseq.spliceDist_3=-144;refseq.start_1=8704343;refseq.start_2=8708216;refseq.start_3=8708216;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr11 8708384 . A C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1029T>G;refseq.codingCoordStr_3=c.1029T>G;refseq.codonCoord_2=343;refseq.codonCoord_3=343;refseq.end_1=8728733;refseq.end_2=8708384;refseq.end_3=8708384;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1415;refseq.mrnaCoord_3=1215;refseq.name2_1=ST5;refseq.name2_2=ST5;refseq.name2_3=ST5;refseq.name_1=NM_139157;refseq.name_2=NM_005418;refseq.name_3=NM_213618;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G343G;refseq.proteinCoordStr_3=p.G343G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_2=-312;refseq.spliceDist_3=-312;refseq.start_1=8704343;refseq.start_2=8708384;refseq.start_3=8708384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr11 8889640 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.57;MQ0=0;OQ=737.32;QD=18.43;RankSumP=0.638911;SB=-282.13;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.68G>A;refseq.codingCoordStr_2=c.68G>A;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=8889640;refseq.end_2=8889640;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=144;refseq.mrnaCoord_2=263;refseq.name2_1=C11orf17;refseq.name2_2=C11orf17;refseq.name_1=NM_020642;refseq.name_2=NM_182901;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R23K;refseq.proteinCoordStr_2=p.R23K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=74;refseq.spliceDist_2=-155;refseq.start_1=8889640;refseq.start_2=8889640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr11 8899518 . C T 320.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.70;MQ0=0;OQ=4614.73;QD=20.88;RankSumP=0.0777539;SB=-1324.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1325G>A;refseq.codonCoord=442;refseq.end=8899518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R442Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-102;refseq.start=8899518;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 8899575 . G A 245.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=458;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=98.82;MQ0=0;OQ=17853.06;QD=38.98;RankSumP=1.00000;SB=-7524.91;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1268C>T;refseq.codonCoord=423;refseq.end=8899575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1392;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A423V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=64;refseq.start=8899575;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr11 8903597 . A G 86.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=1.84;MQ=98.94;MQ0=0;OQ=4158.04;QD=39.60;RankSumP=1.00000;SB=-1312.52;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1193T>C;refseq.codonCoord=398;refseq.end=8903597;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L398P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-12;refseq.start=8903597;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr11 8903755 . G A 180.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=99.00;MQ0=0;OQ=1653.42;QD=17.22;RankSumP=0.203904;SB=-827.32;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1035C>T;refseq.codonCoord=345;refseq.end=8903755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D345D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-170;refseq.start=8903755;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr11 8903859 . G C 113.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=98.86;MQ0=0;OQ=1444.32;QD=14.16;RankSumP=0.249197;SB=-655.24;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.931C>G;refseq.codonCoord=311;refseq.end=8903859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1055;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P311A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-274;refseq.start=8903859;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr11 8903935 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=2.29462e-05;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.855C>G;refseq.codonCoord=285;refseq.end=8903935;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.C285W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=296;refseq.start=8903935;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr11 8905256 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.73;MQ0=0;OQ=1847.15;QD=10.99;RankSumP=0.143774;SB=-431.80;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.366T>A;refseq.codonCoord=122;refseq.end=8905256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_020643;refseq.name2=C11orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P122P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=42;refseq.start=8905256;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 8915946 . G A 145.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=98.45;MQ0=0;OQ=2138.20;QD=20.56;RankSumP=0.458980;SB=-546.79;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.339C>T;refseq.codonCoord=113;refseq.end=8915946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_020646;refseq.name2=ASCL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y113Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-252;refseq.start=8915946;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr11 8916087 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.73;MQ0=0;OQ=592.06;QD=19.74;RankSumP=0.754284;SB=-295.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.198A>C;refseq.codonCoord=66;refseq.end=8916087;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_020646;refseq.name2=ASCL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=210;refseq.start=8916087;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr11 8916121 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.82;MQ0=0;OQ=258.27;QD=11.74;RankSumP=0.0721905;SB=-123.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.164G>T;refseq.codonCoord=55;refseq.end=8916121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_020646;refseq.name2=ASCL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=176;refseq.start=8916121;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 9008999 . A C 426.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.87;MQ0=0;OQ=4502.47;QD=36.91;RankSumP=1.00000;SB=-1685.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1758T>G;refseq.codingCoordStr_2=c.2052T>G;refseq.codonCoord_1=586;refseq.codonCoord_2=684;refseq.end_1=9008999;refseq.end_2=9008999;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1833;refseq.mrnaCoord_2=2127;refseq.name2_1=SCUBE2;refseq.name2_2=SCUBE2;refseq.name_1=NM_001170690;refseq.name_2=NM_020974;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H586Q;refseq.proteinCoordStr_2=p.H684Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=9008999;refseq.start_2=9008999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr11 9123163 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=4.32259e-08;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3077T>G;refseq.codonCoord=1026;refseq.end=9123163;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3332;refseq.name=NM_015213;refseq.name2=DENND5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1026G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-46;refseq.start=9123163;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 9182062 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.63;MQ0=0;OQ=2817.37;QD=26.83;RankSumP=0.396024;SB=-1130.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.670G>C;refseq.codonCoord=224;refseq.end=9182062;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_015213;refseq.name2=DENND5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E224Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-280;refseq.start=9182062;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr11 9362925 . T C 190.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.38;MQ0=0;OQ=2221.73;QD=38.31;RankSumP=1.00000;SB=-1024.73;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.39T>C;refseq.codonCoord=13;refseq.end=9362925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_006391;refseq.name2=IPO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-46;refseq.start=9362925;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 9386731 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.289G>A;refseq.codonCoord=97;refseq.end=9386731;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_006391;refseq.name2=IPO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.E97K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-32;refseq.start=9386731;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr11 9406953 . T G 354.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=98.55;MQ0=0;OQ=5477.80;QD=18.44;RankSumP=1.00454e-07;SB=-2036.78;SecondBestBaseQ=31;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.end_1=9407143;refseq.end_2=9406953;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=65;refseq.name2_1=IPO7;refseq.name2_2=SNORA23;refseq.name_1=NM_006391;refseq.name_2=NR_002962;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=65;refseq.start_1=9406763;refseq.start_2=9406953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=filterInsoap-gatk GT 1/0 chr11 9418654 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2772T>G;refseq.codonCoord=924;refseq.end=9418654;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2914;refseq.name=NM_006391;refseq.name2=IPO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G924G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=77;refseq.start=9418654;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 9418686 . A G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.386409;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2804A>G;refseq.codonCoord=935;refseq.end=9418686;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2946;refseq.name=NM_006391;refseq.name2=IPO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D935G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-99;refseq.start=9418686;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap GT 0/1 chr11 9418763 . A G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.334104;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2881A>G;refseq.codonCoord=961;refseq.end=9418763;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3023;refseq.name=NM_006391;refseq.name2=IPO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I961V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-22;refseq.start=9418763;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr11 9452701 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.318T>G;refseq.codonCoord=106;refseq.end=9452701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_003442;refseq.name2=ZNF143;refseq.positionType=CDS;refseq.proteinCoordStr=p.G106G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=29;refseq.start=9452701;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 9456643 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.504T>G;refseq.codonCoord=168;refseq.end=9456643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_003442;refseq.name2=ZNF143;refseq.positionType=CDS;refseq.proteinCoordStr=p.G168G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-67;refseq.start=9456643;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 9490651 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.54425e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1456G>T;refseq.codonCoord=486;refseq.end=9490651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_003442;refseq.name2=ZNF143;refseq.positionType=CDS;refseq.proteinCoordStr=p.V486L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-69;refseq.start=9490651;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr11 9494480 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.70;MQ0=0;OQ=4773.73;QD=48.22;RankSumP=1.00000;SB=-470.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1681G>C;refseq.codonCoord=561;refseq.end=9494480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_003442;refseq.name2=ZNF143;refseq.positionType=CDS;refseq.proteinCoordStr=p.E561Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=9494480;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr11 9552308 . C G 16.19 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=16.19;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.252C>G;refseq.codonCoord=84;refseq.end=9552308;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_003390;refseq.name2=WEE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G84G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-325;refseq.start=9552308;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 9706221 . A C 287.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=9.77;MQ=98.64;MQ0=0;OQ=5978.72;QD=19.73;RankSumP=0.338062;SB=-941.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.688A>C;refseq.codonCoord=230;refseq.end=9706221;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_015055;refseq.name2=SWAP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.R230R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=46;refseq.start=9706221;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr11 9710797 . C T 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.73;MQ0=0;OQ=179.82;QD=11.99;RankSumP=0.512471;SB=-72.05;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1044C>T;refseq.codonCoord=348;refseq.end=9710797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_015055;refseq.name2=SWAP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.N348N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-37;refseq.start=9710797;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 9726138 . C G 198.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=6.73;MQ=98.74;MQ0=0;OQ=4883.25;QD=22.50;RankSumP=0.298299;SB=-1794.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1513C>G;refseq.codonCoord=505;refseq.end=9726138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_015055;refseq.name2=SWAP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q505E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-42;refseq.start=9726138;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr11 9976455 . G A 347.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=11.15;MQ=98.87;MQ0=0;OQ=6767.92;QD=20.39;RankSumP=0.456947;SB=-2494.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.909C>T;refseq.codonCoord=303;refseq.end=9976455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_030962;refseq.name2=SBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P303P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=48;refseq.start=9976455;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr11 10478340 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=670;Dels=0.00;HRun=0;HaplotypeScore=8.67;MQ=98.91;MQ0=0;OQ=12452.11;QD=18.59;RankSumP=0.193908;SB=-5117.62;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_1=c.1716T>C;refseq.codingCoordStr_2=c.1689T>C;refseq.codingCoordStr_3=c.1710T>C;refseq.codingCoordStr_4=c.1689T>C;refseq.codingCoordStr_5=c.1212T>C;refseq.codonCoord_1=572;refseq.codonCoord_2=563;refseq.codonCoord_3=570;refseq.codonCoord_4=563;refseq.codonCoord_5=404;refseq.end_1=10478340;refseq.end_2=10478340;refseq.end_3=10478340;refseq.end_4=10478340;refseq.end_5=10478340;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2061;refseq.mrnaCoord_2=2024;refseq.mrnaCoord_3=2163;refseq.mrnaCoord_4=1988;refseq.mrnaCoord_5=1684;refseq.name2_1=AMPD3;refseq.name2_2=AMPD3;refseq.name2_3=AMPD3;refseq.name2_4=AMPD3;refseq.name2_5=AMPD3;refseq.name_1=NM_000480;refseq.name_2=NM_001025389;refseq.name_3=NM_001025390;refseq.name_4=NM_001172430;refseq.name_5=NM_001172431;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Y572Y;refseq.proteinCoordStr_2=p.Y563Y;refseq.proteinCoordStr_3=p.Y570Y;refseq.proteinCoordStr_4=p.Y563Y;refseq.proteinCoordStr_5=p.Y404Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.spliceDist_4=-33;refseq.spliceDist_5=-33;refseq.start_1=10478340;refseq.start_2=10478340;refseq.start_3=10478340;refseq.start_4=10478340;refseq.start_5=10478340;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;set=Intersection GT 1/0 chr11 10512162 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=285;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=98.75;MQ0=0;OQ=4705.92;QD=16.51;RankSumP=0.0909815;SB=-626.58;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.120G>C;refseq.codonCoord=40;refseq.end=10512162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_016422;refseq.name2=RNF141;refseq.positionType=CDS;refseq.proteinCoordStr=p.G40G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-24;refseq.start=10512162;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr11 10512165 . A G 257.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=13.03;MQ=98.76;MQ0=0;OQ=4736.76;QD=16.33;RankSumP=0.338325;SB=-1156.15;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.117T>C;refseq.codonCoord=39;refseq.end=10512165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_016422;refseq.name2=RNF141;refseq.positionType=CDS;refseq.proteinCoordStr=p.L39L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-27;refseq.start=10512165;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr11 10538787 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.534A>C;refseq.codonCoord=178;refseq.end=10538787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_006691;refseq.name2=LYVE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I178I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=137;refseq.start=10538787;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr11 10538816 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=442;Dels=0.00;HRun=2;HaplotypeScore=25.61;MQ=98.71;MQ0=0;OQ=7600.25;QD=17.20;RankSumP=0.295680;SB=-1926.02;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.505T>C;refseq.codonCoord=169;refseq.end=10538816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_006691;refseq.name2=LYVE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y169H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=108;refseq.start=10538816;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr11 10738422 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.719T>G;refseq.codonCoord=240;refseq.end=10738422;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_014633;refseq.name2=CTR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V240G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-23;refseq.start=10738422;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr11 10742751 . C T 417.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.56;MQ0=0;OQ=5377.23;QD=42.01;RankSumP=1.00000;SB=-2476.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1494C>T;refseq.codonCoord=498;refseq.end=10742751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1643;refseq.name=NM_014633;refseq.name2=CTR9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T498T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=81;refseq.start=10742751;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr11 10778926 . C T 328.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.77;MQ0=0;OQ=11181.87;QD=40.08;RankSumP=1.00000;SB=-3337.57;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1458G>A;refseq.codingCoordStr_2=c.1572G>A;refseq.codingCoordStr_3=c.1572G>A;refseq.codonCoord_1=486;refseq.codonCoord_2=524;refseq.codonCoord_3=524;refseq.end_1=10778926;refseq.end_2=10778926;refseq.end_3=10778926;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1875;refseq.mrnaCoord_2=2106;refseq.mrnaCoord_3=1989;refseq.name2_1=EIF4G2;refseq.name2_2=EIF4G2;refseq.name2_3=EIF4G2;refseq.name_1=NM_001042559;refseq.name_2=NM_001172705;refseq.name_3=NM_001418;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P486P;refseq.proteinCoordStr_2=p.P524P;refseq.proteinCoordStr_3=p.P524P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=10778926;refseq.start_2=10778926;refseq.start_3=10778926;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr11 10779655 . T C 156.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.92;MQ0=0;OQ=2148.24;QD=17.19;RankSumP=0.485737;SB=-925.46;SecondBestBaseQ=33;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.end_1=10779773;refseq.end_2=10779773;refseq.end_3=10780161;refseq.end_4=10779655;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_4=77;refseq.name2_1=EIF4G2;refseq.name2_2=EIF4G2;refseq.name2_3=EIF4G2;refseq.name2_4=SNORD97;refseq.name_1=NM_001172705;refseq.name_2=NM_001418;refseq.name_3=NM_001042559;refseq.name_4=NR_004403;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_exon;refseq.spliceDist_4=-66;refseq.start_1=10779221;refseq.start_2=10779221;refseq.start_3=10779221;refseq.start_4=10779655;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=Intersection GT 1/0 chr11 11249276 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=2.64;MQ=99.00;MQ0=0;OQ=709.64;QD=11.63;RankSumP=0.610269;SB=-298.48;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1815C>G;refseq.codonCoord=605;refseq.end=11249276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2236;refseq.name=NM_198516;refseq.name2=GALNTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L605L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=138;refseq.start=11249276;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 11310922 . T C 300.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=5.97;MQ=98.60;MQ0=0;OQ=6259.29;QD=16.74;RankSumP=0.330961;SB=-2457.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1311A>G;refseq.codonCoord=437;refseq.end=11310922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1732;refseq.name=NM_198516;refseq.name2=GALNTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A437A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=33;refseq.start=11310922;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 11870161 . G T 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=519;Dels=0.00;HRun=0;HaplotypeScore=15.14;MQ=98.85;MQ0=0;OQ=19936.54;QD=38.41;RankSumP=1.00000;SB=-9106.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.224G>T;refseq.codonCoord=75;refseq.end=11870161;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_017944;refseq.name2=USP47;refseq.positionType=CDS;refseq.proteinCoordStr=p.G75V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-69;refseq.start=11870161;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 11933204 . G A 245.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=4.88;MQ=98.76;MQ0=0;OQ=6235.91;QD=21.65;RankSumP=0.365946;SB=-1889.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3606G>A;refseq.codonCoord=1202;refseq.end=11933204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4369;refseq.name=NM_017944;refseq.name2=USP47;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1202Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=48;refseq.start=11933204;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr11 11934149 . T C 196.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.76;MQ0=0;OQ=1567.11;QD=21.47;RankSumP=0.352494;SB=-760.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3715T>C;refseq.codonCoord=1239;refseq.end=11934149;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4478;refseq.name=NM_017944;refseq.name2=USP47;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1239L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=11934149;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 11942637 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=3;HaplotypeScore=36.07;MQ=97.54;MQ0=0;OQ=1463.61;QD=9.96;RankSumP=8.10855e-08;SB=-256.69;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1003A>G;refseq.codingCoordStr_2=c.1003A>G;refseq.codingCoordStr_3=c.1003A>G;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=335;refseq.end_1=11942637;refseq.end_2=11942637;refseq.end_3=11942637;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=1228;refseq.mrnaCoord_3=1242;refseq.name2_1=DKK3;refseq.name2_2=DKK3;refseq.name2_3=DKK3;refseq.name_1=NM_001018057;refseq.name_2=NM_013253;refseq.name_3=NM_015881;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R335G;refseq.proteinCoordStr_2=p.R335G;refseq.proteinCoordStr_3=p.R335G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.spliceDist_3=173;refseq.start_1=11942637;refseq.start_2=11942637;refseq.start_3=11942637;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=filterInsoap-gatk GT 1/0 chr11 11946547 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.499A>C;refseq.codingCoordStr_2=c.499A>C;refseq.codingCoordStr_3=c.499A>C;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.codonCoord_3=167;refseq.end_1=11946547;refseq.end_2=11946547;refseq.end_3=11946547;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=556;refseq.mrnaCoord_2=724;refseq.mrnaCoord_3=738;refseq.name2_1=DKK3;refseq.name2_2=DKK3;refseq.name2_3=DKK3;refseq.name_1=NM_001018057;refseq.name_2=NM_013253;refseq.name_3=NM_015881;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T167P;refseq.proteinCoordStr_2=p.T167P;refseq.proteinCoordStr_3=p.T167P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=11946547;refseq.start_2=11946547;refseq.start_3=11946547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr11 12140422 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=4;HaplotypeScore=6.29;MQ=98.79;MQ0=0;OQ=1312.41;QD=14.42;RankSumP=0.0507163;SB=-624.10;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=12140422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N48N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-121;refseq.start=12140422;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 12182522 . T G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=379;Dels=0.00;HRun=2;HaplotypeScore=10.91;MQ=98.25;MQ0=0;OQ=15338.48;QD=40.47;RankSumP=1.00000;SB=-7590.06;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.414T>G;refseq.codonCoord=138;refseq.end=12182522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R138R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-59;refseq.start=12182522;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 12186231 . T G 203.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=98.94;MQ0=0;OQ=5790.65;QD=21.69;RankSumP=0.431375;SB=-566.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.558T>G;refseq.codonCoord=186;refseq.end=12186231;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V186V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-32;refseq.start=12186231;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 12200759 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1342T>G;refseq.codonCoord=448;refseq.end=12200759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1630;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L448V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=20;refseq.start=12200759;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 1/0 chr11 12217571 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2077T>C;refseq.codonCoord=693;refseq.end=12217571;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2365;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S693P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=13;refseq.start=12217571;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 12217583 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=5.12;MQ=98.76;MQ0=0;OQ=6791.05;QD=19.40;RankSumP=0.207838;SB=-2751.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2089T>C;refseq.codonCoord=697;refseq.end=12217583;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2377;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L697L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=25;refseq.start=12217583;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 12222118 . A G 229.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=583;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.89;MQ0=0;OQ=11019.75;QD=18.90;RankSumP=0.442122;SB=-2774.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2667A>G;refseq.codonCoord=889;refseq.end=12222118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2955;refseq.name=NM_014632;refseq.name2=MICAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L889L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=12222118;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 12271762 . G A 175.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=97.62;MQ0=0;OQ=1280.76;QD=15.81;RankSumP=0.483336;SB=-251.76;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.208G>A;refseq.codonCoord=70;refseq.end=12271762;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V70I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=79;refseq.start=12271762;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr11 12271983 . G C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=2094.82;QD=45.54;RankSumP=1.00000;SB=-608.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.429G>C;refseq.codonCoord=143;refseq.end=12271983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G143G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=300;refseq.start=12271983;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 12272292 . C T 242.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1432.87;QD=40.94;RankSumP=1.00000;SB=-392.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.738C>T;refseq.codonCoord=246;refseq.end=12272292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A246A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=609;refseq.start=12272292;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr11 12272424 . C T 134.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.94;MQ0=0;OQ=1419.98;QD=13.40;RankSumP=0.00337004;SB=-674.62;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.870C>T;refseq.codonCoord=290;refseq.end=12272424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G290G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-557;refseq.start=12272424;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr11 12272467 . G A 381.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.98;MQ0=0;OQ=2438.65;QD=38.10;RankSumP=1.00000;SB=-657.03;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.913G>A;refseq.codonCoord=305;refseq.end=12272467;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1204;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A305T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-514;refseq.start=12272467;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 12272491 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=636.52;QD=15.16;RankSumP=0.0205237;SB=-129.74;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.937A>G;refseq.codonCoord=313;refseq.end=12272491;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1228;refseq.name=NM_032867;refseq.name2=MICALCL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S313G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-490;refseq.start=12272491;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr11 12860019 . C T 353.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=9.88;MQ=98.71;MQ0=0;OQ=6637.46;QD=18.39;RankSumP=0.458076;SB=-1689.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.468C>T;refseq.codonCoord=156;refseq.end=12860019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_021961;refseq.name2=TEAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D156D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=12860019;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 14272880 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.68+2;refseq.codingCoordStr_2=c.194+2;refseq.codingCoordStr_3=c.68+2;refseq.codingCoordStr_4=c.299+2;refseq.end_1=14272880;refseq.end_2=14272880;refseq.end_3=14272880;refseq.end_4=14272880;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=RRAS2;refseq.name2_2=RRAS2;refseq.name2_3=RRAS2;refseq.name2_4=RRAS2;refseq.name_1=NM_001102669;refseq.name_2=NM_001177314;refseq.name_3=NM_001177315;refseq.name_4=NM_012250;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=14272880;refseq.start_2=14272880;refseq.start_3=14272880;refseq.start_4=14272880;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 0/1 chr11 14767338 . A G 351.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.55;MQ0=0;OQ=7675.86;QD=41.49;RankSumP=1.00000;SB=-3640.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1389A>G;refseq.codonCoord=463;refseq.end=14767338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1742;refseq.name=NM_000922;refseq.name2=PDE3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R463R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-27;refseq.start=14767338;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr11 14870151 . G A 420.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=98.59;MQ0=0;OQ=4742.58;QD=38.25;RankSumP=1.00000;SB=-2252.86;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.177C>T;refseq.codonCoord=59;refseq.end=14870151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_024514;refseq.name2=CYP2R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S59S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-49;refseq.start=14870151;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 14948115 . T C 301.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=95.61;MQ0=0;OQ=2786.77;QD=37.66;RankSumP=1.00000;SB=-1303.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.169A>G;refseq.codingCoordStr_2=c.169A>G;refseq.codingCoordStr_3=c.169A>G;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.end_1=14948115;refseq.end_2=14948115;refseq.end_3=14948115;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=244;refseq.mrnaCoord_2=244;refseq.mrnaCoord_3=220;refseq.name2_1=CALCA;refseq.name2_2=CALCA;refseq.name2_3=CALCA;refseq.name_1=NM_001033952;refseq.name_2=NM_001033953;refseq.name_3=NM_001741;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N57D;refseq.proteinCoordStr_2=p.N57D;refseq.proteinCoordStr_3=p.N57D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=14948115;refseq.start_2=14948115;refseq.start_3=14948115;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr11 15156533 . T C 344.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=3.54;MQ=98.76;MQ0=0;OQ=7697.79;QD=38.49;RankSumP=1.00000;SB=-2390.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.684T>C;refseq.codingCoordStr_2=c.543T>C;refseq.codonCoord_1=228;refseq.codonCoord_2=181;refseq.end_1=15156533;refseq.end_2=15156533;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=730;refseq.mrnaCoord_2=654;refseq.name2_1=INSC;refseq.name2_2=INSC;refseq.name_1=NM_001031853;refseq.name_2=NM_001042536;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G228G;refseq.proteinCoordStr_2=p.G181G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=15156533;refseq.start_2=15156533;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr11 15199639 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1001A>C;refseq.codingCoordStr_2=c.860A>C;refseq.codonCoord_1=334;refseq.codonCoord_2=287;refseq.end_1=15199639;refseq.end_2=15199639;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1047;refseq.mrnaCoord_2=971;refseq.name2_1=INSC;refseq.name2_2=INSC;refseq.name_1=NM_001031853;refseq.name_2=NM_001042536;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N334T;refseq.proteinCoordStr_2=p.N287T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=15199639;refseq.start_2=15199639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr11 16089989 . A G 343.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=98.85;MQ0=0;OQ=6287.77;QD=40.31;RankSumP=1.00000;SB=-1974.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.834T>C;refseq.codingCoordStr_2=c.873T>C;refseq.codingCoordStr_3=c.843T>C;refseq.codingCoordStr_4=c.834T>C;refseq.codonCoord_1=278;refseq.codonCoord_2=291;refseq.codonCoord_3=281;refseq.codonCoord_4=278;refseq.end_1=16089989;refseq.end_2=16089989;refseq.end_3=16089989;refseq.end_4=16089989;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1025;refseq.mrnaCoord_2=906;refseq.mrnaCoord_3=1047;refseq.mrnaCoord_4=912;refseq.name2_1=SOX6;refseq.name2_2=SOX6;refseq.name2_3=SOX6;refseq.name2_4=SOX6;refseq.name_1=NM_001145811;refseq.name_2=NM_001145819;refseq.name_3=NM_017508;refseq.name_4=NM_033326;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T278T;refseq.proteinCoordStr_2=p.T291T;refseq.proteinCoordStr_3=p.T281T;refseq.proteinCoordStr_4=p.T278T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.spliceDist_4=57;refseq.start_1=16089989;refseq.start_2=16089989;refseq.start_3=16089989;refseq.start_4=16089989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr11 16733187 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=5;RankSumP=0.147292;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.380G>A;refseq.codingCoordStr_2=c.512G>A;refseq.codonCoord_1=127;refseq.codonCoord_2=171;refseq.end_1=16733187;refseq.end_2=16733187;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=774;refseq.mrnaCoord_2=690;refseq.name2_1=C11orf58;refseq.name2_2=C11orf58;refseq.name_1=NM_001142705;refseq.name_2=NM_014267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S127N;refseq.proteinCoordStr_2=p.S171N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=194;refseq.spliceDist_2=194;refseq.start_1=16733187;refseq.start_2=16733187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=soap GT 1/0 chr11 16733201 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.353031;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.394A>T;refseq.codingCoordStr_2=c.526A>T;refseq.codonCoord_1=132;refseq.codonCoord_2=176;refseq.end_1=16733201;refseq.end_2=16733201;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=788;refseq.mrnaCoord_2=704;refseq.name2_1=C11orf58;refseq.name2_2=C11orf58;refseq.name_1=NM_001142705;refseq.name_2=NM_014267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M132L;refseq.proteinCoordStr_2=p.M176L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=208;refseq.spliceDist_2=208;refseq.start_1=16733201;refseq.start_2=16733201;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=soap GT 0/1 chr11 16833952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=3;RankSumP=9.56122e-08;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.391A>C;refseq.codonCoord=131;refseq.end=16833952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_175058;refseq.name2=PLEKHA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T131P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-27;refseq.start=16833952;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 16992294 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=5.50;MQ=96.36;MQ0=0;OQ=1727.57;QD=29.79;RankSumP=1.00000;SB=-839.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.117T>C;refseq.codonCoord=39;refseq.end=16992294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_175058;refseq.name2=PLEKHA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H39H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=31;refseq.start=16992294;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 17075263 . T C 345.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.70;MQ0=0;OQ=5064.23;QD=19.71;RankSumP=0.496937;SB=-1877.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4243A>G;refseq.codonCoord=1415;refseq.end=17075263;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4309;refseq.name=NM_002645;refseq.name2=PIK3C2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1415A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-84;refseq.start=17075263;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr11 17128709 . T C 286.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=98.62;MQ0=0;OQ=13796.92;QD=38.01;RankSumP=1.00000;SB=-5929.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1239A>G;refseq.codonCoord=413;refseq.end=17128709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_002645;refseq.name2=PIK3C2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A413A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=70;refseq.start=17128709;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 17147262 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.603A>C;refseq.codonCoord=201;refseq.end=17147262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_002645;refseq.name2=PIK3C2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T201T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-463;refseq.start=17147262;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 17290239 . G A 212.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=7.98;MQ=98.93;MQ0=0;OQ=9570.60;QD=41.25;RankSumP=1.00000;SB=-2340.79;SecondBestBaseQ=0;refseq.chr=chr11;refseq.codingCoordStr=c.907+1;refseq.end=17290239;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_005013;refseq.name2=NUCB2;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=17290239;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr11 17365206 . C T 216.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=429;Dels=0.00;HRun=0;HaplotypeScore=18.64;MQ=98.35;MQ0=0;OQ=7846.32;QD=18.29;RankSumP=0.447336;SB=-3089.75;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1009G>A;refseq.codingCoordStr_2=c.748G>A;refseq.codonCoord_1=337;refseq.codonCoord_2=250;refseq.end_1=17365206;refseq.end_2=17365206;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1577;refseq.mrnaCoord_2=922;refseq.name2_1=KCNJ11;refseq.name2_2=KCNJ11;refseq.name_1=NM_000525;refseq.name_2=NM_001166290;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V337I;refseq.proteinCoordStr_2=p.V250I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=1577;refseq.spliceDist_2=764;refseq.start_1=17365206;refseq.start_2=17365206;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr11 17366148 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=20.74;MQ=97.88;MQ0=0;OQ=2916.43;QD=12.36;RankSumP=0.236462;SB=-1392.53;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.67A>G;refseq.codonCoord_2=23;refseq.end_1=17367286;refseq.end_2=17366148;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=635;refseq.name2_1=KCNJ11;refseq.name2_2=KCNJ11;refseq.name_1=NM_001166290;refseq.name_2=NM_000525;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K23E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=635;refseq.start_1=17365980;refseq.start_2=17366148;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr11 17372412 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=122;Dels=0.00;HRun=2;HaplotypeScore=3.65;MQ=98.37;MQ0=0;OQ=730.41;QD=5.99;RankSumP=0.00526313;SB=104.35;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4522A>C;refseq.codonCoord=1508;refseq.end=17372412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4648;refseq.name=NM_000352;refseq.name2=ABCC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1508P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-24;refseq.start=17372412;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr11 17375053 . C A 229.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=6.92;MQ=98.06;MQ0=0;OQ=2896.25;QD=13.99;RankSumP=0.00305057;SB=-1330.36;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4105G>T;refseq.codonCoord=1369;refseq.end=17375053;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4231;refseq.name=NM_000352;refseq.name2=ABCC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1369S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-15;refseq.start=17375053;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 1/0 chr11 17375855 . C T 362.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=98.81;MQ0=0;OQ=4771.62;QD=18.35;RankSumP=0.138463;SB=-1709.77;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3819G>A;refseq.codonCoord=1273;refseq.end=17375855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3945;refseq.name=NM_000352;refseq.name2=ABCC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1273R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-49;refseq.start=17375855;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr11 17406505 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=565.36;QD=14.50;RankSumP=0.633202;SB=-236.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1947G>A;refseq.codonCoord=649;refseq.end=17406505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2073;refseq.name=NM_000352;refseq.name2=ABCC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K649K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=24;refseq.start=17406505;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr11 17409068 . G A 242.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1012.00;QD=38.92;RankSumP=1.00000;SB=-178.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1686C>T;refseq.codonCoord=562;refseq.end=17409068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_000352;refseq.name2=ABCC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H562H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=15;refseq.start=17409068;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr11 17476318 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1011;Dels=0.00;HRun=0;HaplotypeScore=35.66;MQ=98.74;MQ0=0;OQ=18562.25;QD=18.36;RankSumP=0.360624;SB=-4854.84;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1557G>C;refseq.codingCoordStr_2=c.2457G>C;refseq.codonCoord_1=519;refseq.codonCoord_2=819;refseq.end_1=17476318;refseq.end_2=17476318;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1666;refseq.mrnaCoord_2=2566;refseq.name2_1=USH1C;refseq.name2_2=USH1C;refseq.name_1=NM_005709;refseq.name_2=NM_153676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E519D;refseq.proteinCoordStr_2=p.E819D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=17476318;refseq.start_2=17476318;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr11 17479214 . G A 117.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=8.62;MQ=98.54;MQ0=0;OQ=2633.72;QD=12.85;RankSumP=0.292503;SB=-1193.63;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1440C>T;refseq.codingCoordStr_2=c.2340C>T;refseq.codonCoord_1=480;refseq.codonCoord_2=780;refseq.end_1=17479214;refseq.end_2=17479214;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1549;refseq.mrnaCoord_2=2449;refseq.name2_1=USH1C;refseq.name2_2=USH1C;refseq.name_1=NM_005709;refseq.name_2=NM_153676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V480V;refseq.proteinCoordStr_2=p.V780V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=17479214;refseq.start_2=17479214;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr11 17714253 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=1.40534e-07;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.128A>C;refseq.codingCoordStr_2=c.128A>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=17714253;refseq.end_2=17714253;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=183;refseq.mrnaCoord_2=183;refseq.name2_1=KCNC1;refseq.name2_2=KCNC1;refseq.name_1=NM_001112741;refseq.name_2=NM_004976;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H43P;refseq.proteinCoordStr_2=p.H43P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=183;refseq.spliceDist_2=183;refseq.start_1=17714253;refseq.start_2=17714253;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr11 17937623 . C T 293.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.47;MQ0=0;OQ=13252.44;QD=42.21;RankSumP=1.00000;SB=-5968.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.981G>A;refseq.codonCoord=327;refseq.end=17937623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1061;refseq.name=NM_012139;refseq.name2=SERGEF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S327S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-31;refseq.start=17937623;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr11 17984734 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.332A>G;refseq.codonCoord=111;refseq.end=17984734;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_012139;refseq.name2=SERGEF;refseq.positionType=CDS;refseq.proteinCoordStr=p.D111G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-21;refseq.start=17984734;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr11 18003820 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.808A>C;refseq.codonCoord=270;refseq.end=18003820;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_004179;refseq.name2=TPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T270P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=18003820;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 18065068 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=370;Dels=0.00;HRun=1;HaplotypeScore=9.28;MQ=98.65;MQ0=0;OQ=6716.60;QD=18.15;RankSumP=0.263032;SB=-2506.40;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.963A>G;refseq.codonCoord=321;refseq.end=18065068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_138421;refseq.name2=SAAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T321T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-80;refseq.start=18065068;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 18065088 . T C 202.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=98.68;MQ0=0;OQ=5357.45;QD=16.23;RankSumP=0.463771;SB=-1785.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.943A>G;refseq.codonCoord=315;refseq.end=18065088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_138421;refseq.name2=SAAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I315V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=90;refseq.start=18065088;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 18084149 . A G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=0.0186170;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.16T>C;refseq.codonCoord=6;refseq.end=18084149;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=66;refseq.name=NM_138421;refseq.name2=SAAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S6P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=66;refseq.start=18084149;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr11 18115569 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=21.37;MQ=97.94;MQ0=0;OQ=4719.56;QD=15.89;RankSumP=0.000149674;SB=-1349.89;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.244T>C;refseq.codonCoord=82;refseq.end=18115569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_054031;refseq.name2=MRGPRX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C82R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=269;refseq.start=18115569;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=filterInsoap-gatk GT 1/0 chr11 18115745 . A G 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=505;Dels=0.00;HRun=1;HaplotypeScore=12.29;MQ=98.46;MQ0=0;OQ=18420.62;QD=36.48;RankSumP=1.00000;SB=-7993.89;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.420A>G;refseq.codonCoord=140;refseq.end=18115745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_054031;refseq.name2=MRGPRX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S140S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=445;refseq.start=18115745;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr11 18115830 . A G 187.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=98.23;MQ0=0;OQ=11397.53;QD=22.48;RankSumP=0.239102;SB=-3906.94;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.505A>G;refseq.codonCoord=169;refseq.end=18115830;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_054031;refseq.name2=MRGPRX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N169D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=530;refseq.start=18115830;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 18116031 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=221;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=96.75;MQ0=0;OQ=2776.07;QD=12.56;RankSumP=0.494542;SB=-1413.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.706T>C;refseq.codonCoord=236;refseq.end=18116031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1067;refseq.name=NM_054031;refseq.name2=MRGPRX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W236R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-571;refseq.start=18116031;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr11 18151627 . T C 325.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=97.89;MQ0=0;OQ=9157.29;QD=38.16;RankSumP=1.00000;SB=-4397.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.248T>C;refseq.codonCoord=83;refseq.end=18151627;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_054032;refseq.name2=MRGPRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L83S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=668;refseq.start=18151627;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr11 18151924 . C T 234.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=558;Dels=0.00;HRun=0;HaplotypeScore=18.44;MQ=98.78;MQ0=0;OQ=10850.28;QD=19.44;RankSumP=0.0583403;SB=-2807.79;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.545C>T;refseq.codonCoord=182;refseq.end=18151924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=965;refseq.name=NM_054032;refseq.name2=MRGPRX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A182V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-480;refseq.start=18151924;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 18209680 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=351;Dels=0.00;HRun=0;HaplotypeScore=9.75;MQ=98.86;MQ0=0;OQ=8019.63;QD=22.85;RankSumP=0.288997;SB=-2390.34;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.338G>A;refseq.codonCoord=113;refseq.end=18209680;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_006512;refseq.name2=SAA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R113Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=108;refseq.start=18209680;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 18209752 . C T 445.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.13;MQ0=0;OQ=4737.09;QD=40.14;RankSumP=1.00000;SB=-1427.39;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.266G>A;refseq.codonCoord=89;refseq.end=18209752;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_006512;refseq.name2=SAA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C89Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=36;refseq.start=18209752;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr11 18223603 . C T 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=29.68;MQ=96.21;MQ0=0;OQ=9047.76;QD=32.08;RankSumP=1.00000;SB=-2568.40;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.266G>A;refseq.codonCoord_2=89;refseq.end_1=18224022;refseq.end_2=18223603;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=303;refseq.name2_1=SAA2;refseq.name2_2=SAA2;refseq.name_1=NM_001127380;refseq.name_2=NM_030754;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R89H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=36;refseq.start_1=18218103;refseq.start_2=18223603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr11 18224039 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=317;Dels=0.00;HRun=0;HaplotypeScore=53.52;MQ=34.61;MQ0=65;OQ=521.58;QD=1.65;RankSumP=0.0715672;SB=-149.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.224T>C;refseq.codingCoordStr_2=c.224T>C;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=18224039;refseq.end_2=18224039;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=261;refseq.mrnaCoord_2=261;refseq.name2_1=SAA2;refseq.name2_2=SAA2;refseq.name_1=NM_001127380;refseq.name_2=NM_030754;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V75A;refseq.proteinCoordStr_2=p.V75A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=18224039;refseq.start_2=18224039;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=soap-filterIngatk GT 0/1 chr11 18224047 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=1;HaplotypeScore=86.74;MQ=32.77;MQ0=81;OQ=4967.24;QD=15.82;RankSumP=0.748044;SB=-1947.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.216T>C;refseq.codingCoordStr_2=c.216T>C;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=18224047;refseq.end_2=18224047;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=253;refseq.mrnaCoord_2=253;refseq.name2_1=SAA2;refseq.name2_2=SAA2;refseq.name_1=NM_001127380;refseq.name_2=NM_030754;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A72A;refseq.proteinCoordStr_2=p.A72A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=18224047;refseq.start_2=18224047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=soap-filterIngatk GT 0/1 chr11 18224054 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=311;Dels=0.00;HRun=0;HaplotypeScore=52.88;MQ=31.69;MQ0=104;OQ=644.61;QD=2.07;RankSumP=0.514995;SB=-145.28;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.209C>T;refseq.codingCoordStr_2=c.209C>T;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=18224054;refseq.end_2=18224054;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=246;refseq.mrnaCoord_2=246;refseq.name2_1=SAA2;refseq.name2_2=SAA2;refseq.name_1=NM_001127380;refseq.name_2=NM_030754;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A70V;refseq.proteinCoordStr_2=p.A70V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=18224054;refseq.start_2=18224054;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=soap-filterIngatk GT 1/0 chr11 18226092 . T C 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.250000;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.43A>G;refseq.codingCoordStr_2=c.43A>G;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=18226092;refseq.end_2=18226092;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=80;refseq.mrnaCoord_2=80;refseq.name2_1=SAA2;refseq.name2_2=SAA2;refseq.name_1=NM_001127380;refseq.name_2=NM_030754;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S15G;refseq.proteinCoordStr_2=p.S15G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=18226092;refseq.start_2=18226092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 1/0 chr11 18245053 . G A 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.268398;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.43G>A;refseq.codingCoordStr_2=c.43G>A;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=18245053;refseq.end_2=18245053;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=119;refseq.name2_1=SAA1;refseq.name2_2=SAA1;refseq.name_1=NM_000331;refseq.name_2=NM_199161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G15S;refseq.proteinCoordStr_2=p.G15S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=18245053;refseq.start_2=18245053;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 1/0 chr11 18247435 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=10.98;MQ=35.15;MQ0=39;OQ=64.97;QD=1.38;RankSumP=0.0363636;SB=-35.53;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.209C>T;refseq.codingCoordStr_2=c.209C>T;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=18247435;refseq.end_2=18247435;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=432;refseq.mrnaCoord_2=285;refseq.name2_1=SAA1;refseq.name2_2=SAA1;refseq.name_1=NM_000331;refseq.name_2=NM_199161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A70V;refseq.proteinCoordStr_2=p.A70V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=18247435;refseq.start_2=18247435;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 18247450 rs1136747 T C 22.76 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=43.09;MQ0=20;QD=0.84;SB=-31.92;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.224T>C;refseq.codingCoordStr_2=c.224T>C;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=18247450;refseq.end_2=18247450;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=447;refseq.mrnaCoord_2=300;refseq.name2_1=SAA1;refseq.name2_2=SAA1;refseq.name_1=NM_000331;refseq.name_2=NM_199161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V75A;refseq.proteinCoordStr_2=p.V75A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=18247450;refseq.start_2=18247450;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:17,10:7:-7.67,-2.11,-20.71:55.57 chr11 18247456 . C G 18.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=73.46;MQ0=3;OQ=350.75;QD=31.89;RankSumP=1.00000;SB=-190.87;SecondBestBaseQ=0;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.228+2;refseq.codingCoordStr_2=c.228+2;refseq.end_1=18247456;refseq.end_2=18247456;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SAA1;refseq.name2_2=SAA1;refseq.name_1=NM_000331;refseq.name_2=NM_199161;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=18247456;refseq.start_2=18247456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=filterInsoap-gatk GT 1/1 chr11 18381027 . C T 152.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=88.09;MQ0=14;OQ=5616.32;QD=14.48;RankSumP=0.460123;SB=-1681.52;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_2=c.309C>T;refseq.codingCoordStr_3=c.570C>T;refseq.codingCoordStr_4=c.483C>T;refseq.codingCoordStr_5=c.483C>T;refseq.codingCoordStr_6=c.483C>T;refseq.codonCoord_2=103;refseq.codonCoord_3=190;refseq.codonCoord_4=161;refseq.codonCoord_5=161;refseq.codonCoord_6=161;refseq.end_1=18381027;refseq.end_2=18381027;refseq.end_3=18381027;refseq.end_4=18381027;refseq.end_5=18381027;refseq.end_6=18381027;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=637;refseq.mrnaCoord_2=581;refseq.mrnaCoord_3=852;refseq.mrnaCoord_4=755;refseq.mrnaCoord_5=755;refseq.mrnaCoord_6=755;refseq.name2_1=LDHA;refseq.name2_2=LDHA;refseq.name2_3=LDHA;refseq.name2_4=LDHA;refseq.name2_5=LDHA;refseq.name2_6=LDHA;refseq.name_1=NR_028500;refseq.name_2=NM_001135239;refseq.name_3=NM_001165414;refseq.name_4=NM_001165415;refseq.name_5=NM_001165416;refseq.name_6=NM_005566;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.S103S;refseq.proteinCoordStr_3=p.S190S;refseq.proteinCoordStr_4=p.S161S;refseq.proteinCoordStr_5=p.S161S;refseq.proteinCoordStr_6=p.S161S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.spliceDist_4=65;refseq.spliceDist_5=65;refseq.spliceDist_6=65;refseq.start_1=18381027;refseq.start_2=18381027;refseq.start_3=18381027;refseq.start_4=18381027;refseq.start_5=18381027;refseq.start_6=18381027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;set=Intersection GT 0/1 chr11 18381063 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=15.71;MQ=85.67;MQ0=21;OQ=2725.68;QD=8.94;RankSumP=0.00822515;SB=-1278.35;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_2=c.345A>G;refseq.codingCoordStr_3=c.606A>G;refseq.codingCoordStr_4=c.519A>G;refseq.codingCoordStr_5=c.519A>G;refseq.codingCoordStr_6=c.519A>G;refseq.codonCoord_2=115;refseq.codonCoord_3=202;refseq.codonCoord_4=173;refseq.codonCoord_5=173;refseq.codonCoord_6=173;refseq.end_1=18381063;refseq.end_2=18381063;refseq.end_3=18381063;refseq.end_4=18381063;refseq.end_5=18381063;refseq.end_6=18381063;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=617;refseq.mrnaCoord_3=888;refseq.mrnaCoord_4=791;refseq.mrnaCoord_5=791;refseq.mrnaCoord_6=791;refseq.name2_1=LDHA;refseq.name2_2=LDHA;refseq.name2_3=LDHA;refseq.name2_4=LDHA;refseq.name2_5=LDHA;refseq.name2_6=LDHA;refseq.name_1=NR_028500;refseq.name_2=NM_001135239;refseq.name_3=NM_001165414;refseq.name_4=NM_001165415;refseq.name_5=NM_001165416;refseq.name_6=NM_005566;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.L115L;refseq.proteinCoordStr_3=p.L202L;refseq.proteinCoordStr_4=p.L173L;refseq.proteinCoordStr_5=p.L173L;refseq.proteinCoordStr_6=p.L173L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.referenceCodon_5=CTA;refseq.referenceCodon_6=CTA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.spliceDist_5=-74;refseq.spliceDist_6=-74;refseq.start_1=18381063;refseq.start_2=18381063;refseq.start_3=18381063;refseq.start_4=18381063;refseq.start_5=18381063;refseq.start_6=18381063;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;set=filterInsoap-gatk GT 0/1 chr11 18407978 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.363T>C;refseq.codingCoordStr_2=c.363T>C;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=18407978;refseq.end_2=18407978;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=529;refseq.mrnaCoord_2=475;refseq.name2_1=LDHC;refseq.name2_2=LDHC;refseq.name_1=NM_002301;refseq.name_2=NM_017448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I121I;refseq.proteinCoordStr_2=p.I121I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=18407978;refseq.start_2=18407978;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT 1/0 chr11 18424397 . T C 108.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=98.78;MQ0=0;OQ=18318.46;QD=40.71;RankSumP=1.00000;SB=-8606.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.775T>C;refseq.codingCoordStr_2=c.775T>C;refseq.codonCoord_1=259;refseq.codonCoord_2=259;refseq.end_1=18424397;refseq.end_2=18424397;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=887;refseq.name2_1=LDHC;refseq.name2_2=LDHC;refseq.name_1=NM_002301;refseq.name_2=NM_017448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L259L;refseq.proteinCoordStr_2=p.L259L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=18424397;refseq.start_2=18424397;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr11 18434907 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.104G>T;refseq.codingCoordStr_2=c.104G>T;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=18434907;refseq.end_2=18434907;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=958;refseq.name2_1=LDHAL6A;refseq.name2_2=LDHAL6A;refseq.name_1=NM_001144071;refseq.name_2=NM_144972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C35F;refseq.proteinCoordStr_2=p.C35F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=18434907;refseq.start_2=18434907;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr11 18443881 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=421;Dels=0.00;HRun=0;HaplotypeScore=23.73;MQ=98.91;MQ0=0;OQ=9483.49;QD=22.53;RankSumP=0.245732;SB=-3355.25;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.366C>G;refseq.codingCoordStr_2=c.366C>G;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=18443881;refseq.end_2=18443881;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=627;refseq.mrnaCoord_2=1220;refseq.name2_1=LDHAL6A;refseq.name2_2=LDHAL6A;refseq.name_1=NM_001144071;refseq.name_2=NM_144972;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P122P;refseq.proteinCoordStr_2=p.P122P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=18443881;refseq.start_2=18443881;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr11 18492929 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.229C>A;refseq.codonCoord=77;refseq.end=18492929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_006292;refseq.name2=TSG101;refseq.positionType=CDS;refseq.proteinCoordStr=p.L77M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=36;refseq.start=18492929;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr11 18512477 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=2127.11;QD=21.49;RankSumP=0.445071;SB=-120.29;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1224G>C;refseq.codonCoord_2=408;refseq.end_1=18514518;refseq.end_2=18512477;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1304;refseq.name2_1=UEVLD;refseq.name2_2=UEVLD;refseq.name_1=NM_018314;refseq.name_2=NM_001040697;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V408V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-25;refseq.start_1=18510621;refseq.start_2=18512477;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr11 18512525 . T C 231.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.96;MQ0=0;OQ=4541.37;QD=18.92;RankSumP=0.0601019;SB=-1409.77;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1176A>G;refseq.codonCoord_2=392;refseq.end_1=18514518;refseq.end_2=18512525;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1256;refseq.name2_1=UEVLD;refseq.name2_2=UEVLD;refseq.name_1=NM_018314;refseq.name_2=NM_001040697;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L392L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_2=52;refseq.start_1=18510621;refseq.start_2=18512525;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr11 18544505 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.458T>G;refseq.codingCoordStr_2=c.458T>G;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=18544505;refseq.end_2=18544505;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=538;refseq.mrnaCoord_2=538;refseq.name2_1=UEVLD;refseq.name2_2=UEVLD;refseq.name_1=NM_001040697;refseq.name_2=NM_018314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V153G;refseq.proteinCoordStr_2=p.V153G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=18544505;refseq.start_2=18544505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr11 18556898 . T G 141.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=19.99;MQ=98.82;MQ0=0;OQ=4414.92;QD=20.63;RankSumP=0.0726126;SB=-1749.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.76A>C;refseq.codingCoordStr_2=c.76A>C;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=18556898;refseq.end_2=18556898;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=156;refseq.mrnaCoord_2=156;refseq.name2_1=UEVLD;refseq.name2_2=UEVLD;refseq.name_1=NM_001040697;refseq.name_2=NM_018314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R26R;refseq.proteinCoordStr_2=p.R26R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=18556898;refseq.start_2=18556898;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr11 18687580 . C G 102.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=275;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=98.82;MQ0=0;OQ=5097.32;QD=18.54;RankSumP=0.128467;SB=-1623.44;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2928G>C;refseq.codonCoord=976;refseq.end=18687580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3118;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.R976R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-71;refseq.start=18687580;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr11 18688934 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2416T>C;refseq.codonCoord=806;refseq.end=18688934;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2606;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.S806P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=18;refseq.start=18688934;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 18692523 . T C 255.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=592;Dels=0.00;HRun=0;HaplotypeScore=12.98;MQ=98.67;MQ0=0;OQ=10734.33;QD=18.13;RankSumP=0.0681963;SB=-3567.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1675A>G;refseq.codonCoord=559;refseq.end=18692523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1865;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.M559V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=19;refseq.start=18692523;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 18693671 . C T 131.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=98.97;MQ0=0;OQ=7009.36;QD=21.11;RankSumP=0.304322;SB=-2966.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1415G>A;refseq.codonCoord=472;refseq.end=18693671;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.R472Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-117;refseq.start=18693671;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr11 18694857 . C T 166.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=19.96;MQ=98.66;MQ0=0;OQ=7661.63;QD=16.62;RankSumP=0.131777;SB=-2044.09;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1240G>A;refseq.codonCoord=414;refseq.end=18694857;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1430;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.V414I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=18694857;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr11 18694905 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=546;Dels=0.00;HRun=1;HaplotypeScore=27.65;MQ=98.72;MQ0=0;OQ=11401.24;QD=20.88;RankSumP=0.179609;SB=-4619.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1192G>A;refseq.codonCoord=398;refseq.end=18694905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1382;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.E398K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-55;refseq.start=18694905;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr11 18699756 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.39;MQ0=0;OQ=2220.51;QD=21.77;RankSumP=0.273525;SB=-791.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.280G>C;refseq.codonCoord=94;refseq.end=18699756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_173588;refseq.name2=IGSF22;refseq.positionType=CDS;refseq.proteinCoordStr=p.A94P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=39;refseq.start=18699756;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr11 18707617 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=44.09;MQ=98.14;MQ0=0;OQ=2288.19;QD=11.73;RankSumP=0.0610557;SB=-65.86;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1467G>A;refseq.codingCoordStr_2=c.1563G>A;refseq.codingCoordStr_3=c.1563G>A;refseq.codonCoord_1=489;refseq.codonCoord_2=521;refseq.codonCoord_3=521;refseq.end_1=18707617;refseq.end_2=18707617;refseq.end_3=18707617;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1898;refseq.mrnaCoord_2=1994;refseq.mrnaCoord_3=1949;refseq.name2_1=PTPN5;refseq.name2_2=PTPN5;refseq.name2_3=PTPN5;refseq.name_1=NM_001039970;refseq.name_2=NM_006906;refseq.name_3=NM_032781;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V489V;refseq.proteinCoordStr_2=p.V521V;refseq.proteinCoordStr_3=p.V521V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=18707617;refseq.start_2=18707617;refseq.start_3=18707617;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr11 18707624 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1460A>G;refseq.codingCoordStr_2=c.1556A>G;refseq.codingCoordStr_3=c.1556A>G;refseq.codonCoord_1=487;refseq.codonCoord_2=519;refseq.codonCoord_3=519;refseq.end_1=18707624;refseq.end_2=18707624;refseq.end_3=18707624;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1891;refseq.mrnaCoord_2=1987;refseq.mrnaCoord_3=1942;refseq.name2_1=PTPN5;refseq.name2_2=PTPN5;refseq.name2_3=PTPN5;refseq.name_1=NM_001039970;refseq.name_2=NM_006906;refseq.name_3=NM_032781;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E487G;refseq.proteinCoordStr_2=p.E519G;refseq.proteinCoordStr_3=p.E519G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=18707624;refseq.start_2=18707624;refseq.start_3=18707624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 18720602 . G C 286.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.17;MQ0=0;OQ=3115.50;QD=39.44;RankSumP=1.00000;SB=-904.31;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.412C>G;refseq.codingCoordStr_2=c.508C>G;refseq.codingCoordStr_3=c.508C>G;refseq.codonCoord_1=138;refseq.codonCoord_2=170;refseq.codonCoord_3=170;refseq.end_1=18720602;refseq.end_2=18720602;refseq.end_3=18720602;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=843;refseq.mrnaCoord_2=939;refseq.mrnaCoord_3=894;refseq.name2_1=PTPN5;refseq.name2_2=PTPN5;refseq.name2_3=PTPN5;refseq.name_1=NM_001039970;refseq.name_2=NM_006906;refseq.name_3=NM_032781;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P138A;refseq.proteinCoordStr_2=p.P170A;refseq.proteinCoordStr_3=p.P170A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=18720602;refseq.start_2=18720602;refseq.start_3=18720602;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr11 18912437 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=290;Dels=0.00;HRun=1;HaplotypeScore=4.91;MQ=98.11;MQ0=0;OQ=5461.10;QD=18.83;RankSumP=0.0364600;SB=-2003.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.471G>A;refseq.codonCoord=157;refseq.end=18912437;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=689;refseq.name=NM_147199;refseq.name2=MRGPRX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E157E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-502;refseq.start=18912437;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr11 18912770 . T C 138.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=5.29;MQ=93.50;MQ0=3;OQ=2865.14;QD=15.49;RankSumP=0.196995;SB=-1119.21;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.138A>G;refseq.codonCoord=46;refseq.end=18912770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=356;refseq.name=NM_147199;refseq.name2=MRGPRX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A46A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=356;refseq.start=18912770;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 19033650 . C G 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=5;HRun=1;RankSumP=0.201379;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.876G>C;refseq.codonCoord=292;refseq.end=19033650;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_054030;refseq.name2=MRGPRX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q292H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=901;refseq.start=19033650;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr11 19858208 . G A 125.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=95.99;MQ0=0;OQ=640.38;QD=16.85;RankSumP=0.186009;SB=-342.86;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.537G>A;refseq.codingCoordStr_2=c.729G>A;refseq.codingCoordStr_3=c.729G>A;refseq.codonCoord_1=179;refseq.codonCoord_2=243;refseq.codonCoord_3=243;refseq.end_1=19858208;refseq.end_2=19858208;refseq.end_3=19858208;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=766;refseq.mrnaCoord_2=1090;refseq.mrnaCoord_3=1090;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_145117;refseq.name_3=NM_182964;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A179A;refseq.proteinCoordStr_2=p.A243A;refseq.proteinCoordStr_3=p.A243A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=19858208;refseq.start_2=19858208;refseq.start_3=19858208;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr11 19912076 . A G 399.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.42;MQ0=0;OQ=3175.98;QD=38.26;RankSumP=1.00000;SB=-1145.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1518A>G;refseq.codingCoordStr_2=c.1710A>G;refseq.codingCoordStr_3=c.1710A>G;refseq.codonCoord_1=506;refseq.codonCoord_2=570;refseq.codonCoord_3=570;refseq.end_1=19912076;refseq.end_2=19912076;refseq.end_3=19912076;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1747;refseq.mrnaCoord_2=2071;refseq.mrnaCoord_3=2071;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_145117;refseq.name_3=NM_182964;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K506K;refseq.proteinCoordStr_2=p.K570K;refseq.proteinCoordStr_3=p.K570K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-324;refseq.spliceDist_2=-324;refseq.spliceDist_3=-324;refseq.start_1=19912076;refseq.start_2=19912076;refseq.start_3=19912076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr11 19927134 . T C 118.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=96.37;MQ0=0;OQ=2580.60;QD=28.67;RankSumP=1.00000;SB=-846.99;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.2385T>C;refseq.codingCoordStr_2=c.2577T>C;refseq.codingCoordStr_3=c.2577T>C;refseq.codonCoord_1=795;refseq.codonCoord_2=859;refseq.codonCoord_3=859;refseq.end_1=19927134;refseq.end_2=19927134;refseq.end_3=19927134;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2614;refseq.mrnaCoord_2=2938;refseq.mrnaCoord_3=2938;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_145117;refseq.name_3=NM_182964;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D795D;refseq.proteinCoordStr_2=p.D859D;refseq.proteinCoordStr_3=p.D859D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-69;refseq.spliceDist_2=-69;refseq.spliceDist_3=-69;refseq.start_1=19927134;refseq.start_2=19927134;refseq.start_3=19927134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr11 19927155 . C T 310.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=96.57;MQ0=0;OQ=2640.61;QD=34.29;RankSumP=1.00000;SB=-672.40;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.2406C>T;refseq.codingCoordStr_2=c.2598C>T;refseq.codingCoordStr_3=c.2598C>T;refseq.codonCoord_1=802;refseq.codonCoord_2=866;refseq.codonCoord_3=866;refseq.end_1=19927155;refseq.end_2=19927155;refseq.end_3=19927155;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2635;refseq.mrnaCoord_2=2959;refseq.mrnaCoord_3=2959;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_145117;refseq.name_3=NM_182964;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D802D;refseq.proteinCoordStr_2=p.D866D;refseq.proteinCoordStr_3=p.D866D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=19927155;refseq.start_2=19927155;refseq.start_3=19927155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr11 20022355 . C G 323.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.79;MQ0=0;OQ=4005.16;QD=40.05;RankSumP=1.00000;SB=-1380.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.2968C>G;refseq.codingCoordStr_2=c.418C>G;refseq.codingCoordStr_3=c.3160C>G;refseq.codingCoordStr_4=c.3160C>G;refseq.codonCoord_1=990;refseq.codonCoord_2=140;refseq.codonCoord_3=1054;refseq.codonCoord_4=1054;refseq.end_1=20022355;refseq.end_2=20022355;refseq.end_3=20022355;refseq.end_4=20022355;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3197;refseq.mrnaCoord_2=435;refseq.mrnaCoord_3=3521;refseq.mrnaCoord_4=3521;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P990A;refseq.proteinCoordStr_2=p.P140A;refseq.proteinCoordStr_3=p.P1054A;refseq.proteinCoordStr_4=p.P1054A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=20022355;refseq.start_2=20022355;refseq.start_3=20022355;refseq.start_4=20022355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr11 20023640 . C T 453.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.78;MQ0=0;OQ=4683.09;QD=39.35;RankSumP=1.00000;SB=-2075.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.3558C>T;refseq.codingCoordStr_2=c.1008C>T;refseq.codingCoordStr_3=c.3750C>T;refseq.codingCoordStr_4=c.3750C>T;refseq.codonCoord_1=1186;refseq.codonCoord_2=336;refseq.codonCoord_3=1250;refseq.codonCoord_4=1250;refseq.end_1=20023640;refseq.end_2=20023640;refseq.end_3=20023640;refseq.end_4=20023640;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3787;refseq.mrnaCoord_2=1025;refseq.mrnaCoord_3=4111;refseq.mrnaCoord_4=4111;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D1186D;refseq.proteinCoordStr_2=p.D336D;refseq.proteinCoordStr_3=p.D1250D;refseq.proteinCoordStr_4=p.D1250D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-153;refseq.spliceDist_2=-153;refseq.spliceDist_3=-153;refseq.spliceDist_4=-153;refseq.start_1=20023640;refseq.start_2=20023640;refseq.start_3=20023640;refseq.start_4=20023640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/1 chr11 20055688 . A T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=20.57;MQ=98.67;MQ0=0;OQ=11576.77;QD=36.75;RankSumP=1.00000;SB=-4425.44;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.4806A>T;refseq.codingCoordStr_2=c.2190A>T;refseq.codingCoordStr_3=c.4998A>T;refseq.codingCoordStr_4=c.4998A>T;refseq.codonCoord_1=1602;refseq.codonCoord_2=730;refseq.codonCoord_3=1666;refseq.codonCoord_4=1666;refseq.end_1=20055688;refseq.end_2=20055688;refseq.end_3=20055688;refseq.end_4=20055688;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5035;refseq.mrnaCoord_2=2207;refseq.mrnaCoord_3=5359;refseq.mrnaCoord_4=5359;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A1602A;refseq.proteinCoordStr_2=p.A730A;refseq.proteinCoordStr_3=p.A1666A;refseq.proteinCoordStr_4=p.A1666A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.start_1=20055688;refseq.start_2=20055688;refseq.start_3=20055688;refseq.start_4=20055688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr11 20055690 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=1.54232e-08;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.4808C>G;refseq.codingCoordStr_2=c.2192C>G;refseq.codingCoordStr_3=c.5000C>G;refseq.codingCoordStr_4=c.5000C>G;refseq.codonCoord_1=1603;refseq.codonCoord_2=731;refseq.codonCoord_3=1667;refseq.codonCoord_4=1667;refseq.end_1=20055690;refseq.end_2=20055690;refseq.end_3=20055690;refseq.end_4=20055690;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5037;refseq.mrnaCoord_2=2209;refseq.mrnaCoord_3=5361;refseq.mrnaCoord_4=5361;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A1603G;refseq.proteinCoordStr_2=p.A731G;refseq.proteinCoordStr_3=p.A1667G;refseq.proteinCoordStr_4=p.A1667G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.start_1=20055690;refseq.start_2=20055690;refseq.start_3=20055690;refseq.start_4=20055690;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT 1/0 chr11 20056117 . C T 266.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=98.62;MQ0=0;OQ=2605.44;QD=38.32;RankSumP=1.00000;SB=-555.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.4878C>T;refseq.codingCoordStr_2=c.2262C>T;refseq.codingCoordStr_3=c.5070C>T;refseq.codingCoordStr_4=c.5070C>T;refseq.codonCoord_1=1626;refseq.codonCoord_2=754;refseq.codonCoord_3=1690;refseq.codonCoord_4=1690;refseq.end_1=20056117;refseq.end_2=20056117;refseq.end_3=20056117;refseq.end_4=20056117;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5107;refseq.mrnaCoord_2=2279;refseq.mrnaCoord_3=5431;refseq.mrnaCoord_4=5431;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D1626D;refseq.proteinCoordStr_2=p.D754D;refseq.proteinCoordStr_3=p.D1690D;refseq.proteinCoordStr_4=p.D1690D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.start_1=20056117;refseq.start_2=20056117;refseq.start_3=20056117;refseq.start_4=20056117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/1 chr11 20058266 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=193;Dels=0.00;HRun=2;HaplotypeScore=16.99;MQ=97.06;MQ0=0;OQ=344.91;QD=1.79;RankSumP=0.00000;SB=263.84;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.5068A>C;refseq.codingCoordStr_2=c.2452A>C;refseq.codingCoordStr_3=c.5260A>C;refseq.codingCoordStr_4=c.5260A>C;refseq.codonCoord_1=1690;refseq.codonCoord_2=818;refseq.codonCoord_3=1754;refseq.codonCoord_4=1754;refseq.end_1=20058266;refseq.end_2=20058266;refseq.end_3=20058266;refseq.end_4=20058266;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5297;refseq.mrnaCoord_2=2469;refseq.mrnaCoord_3=5621;refseq.mrnaCoord_4=5621;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1690P;refseq.proteinCoordStr_2=p.T818P;refseq.proteinCoordStr_3=p.T1754P;refseq.proteinCoordStr_4=p.T1754P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.spliceDist_4=-70;refseq.start_1=20058266;refseq.start_2=20058266;refseq.start_3=20058266;refseq.start_4=20058266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr11 20058280 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=5.05;MQ=97.34;MQ0=0;OQ=2300.51;QD=11.92;RankSumP=0.135781;SB=-806.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.5082C>T;refseq.codingCoordStr_2=c.2466C>T;refseq.codingCoordStr_3=c.5274C>T;refseq.codingCoordStr_4=c.5274C>T;refseq.codonCoord_1=1694;refseq.codonCoord_2=822;refseq.codonCoord_3=1758;refseq.codonCoord_4=1758;refseq.end_1=20058280;refseq.end_2=20058280;refseq.end_3=20058280;refseq.end_4=20058280;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5311;refseq.mrnaCoord_2=2483;refseq.mrnaCoord_3=5635;refseq.mrnaCoord_4=5635;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S1694S;refseq.proteinCoordStr_2=p.S822S;refseq.proteinCoordStr_3=p.S1758S;refseq.proteinCoordStr_4=p.S1758S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-56;refseq.start_1=20058280;refseq.start_2=20058280;refseq.start_3=20058280;refseq.start_4=20058280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr11 20058320 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.01;HRun=0;HaplotypeScore=7.42;MQ=98.48;MQ0=0;OQ=2104.52;QD=11.50;RankSumP=0.227132;SB=-820.41;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.5122C>A;refseq.codingCoordStr_2=c.2506C>A;refseq.codingCoordStr_3=c.5314C>A;refseq.codingCoordStr_4=c.5314C>A;refseq.codonCoord_1=1708;refseq.codonCoord_2=836;refseq.codonCoord_3=1772;refseq.codonCoord_4=1772;refseq.end_1=20058320;refseq.end_2=20058320;refseq.end_3=20058320;refseq.end_4=20058320;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5351;refseq.mrnaCoord_2=2523;refseq.mrnaCoord_3=5675;refseq.mrnaCoord_4=5675;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R1708R;refseq.proteinCoordStr_2=p.R836R;refseq.proteinCoordStr_3=p.R1772R;refseq.proteinCoordStr_4=p.R1772R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.spliceDist_4=-16;refseq.start_1=20058320;refseq.start_2=20058320;refseq.start_3=20058320;refseq.start_4=20058320;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 1/0 chr11 20061245 . G A 352.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=434;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=98.88;MQ0=0;OQ=8644.47;QD=19.92;RankSumP=0.313605;SB=-2544.96;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.5250G>A;refseq.codingCoordStr_2=c.2634G>A;refseq.codingCoordStr_3=c.5442G>A;refseq.codingCoordStr_4=c.5451G>A;refseq.codonCoord_1=1750;refseq.codonCoord_2=878;refseq.codonCoord_3=1814;refseq.codonCoord_4=1817;refseq.end_1=20061245;refseq.end_2=20061245;refseq.end_3=20061245;refseq.end_4=20061245;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5479;refseq.mrnaCoord_2=2651;refseq.mrnaCoord_3=5803;refseq.mrnaCoord_4=5812;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P1750P;refseq.proteinCoordStr_2=p.P878P;refseq.proteinCoordStr_3=p.P1814P;refseq.proteinCoordStr_4=p.P1817P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.start_1=20061245;refseq.start_2=20061245;refseq.start_3=20061245;refseq.start_4=20061245;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/0 chr11 20069068 . G A 108.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=22.43;MQ=98.59;MQ0=0;OQ=4558.48;QD=17.33;RankSumP=0.0629117;SB=-1834.07;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.5388G>A;refseq.codingCoordStr_2=c.2772G>A;refseq.codingCoordStr_3=c.5580G>A;refseq.codingCoordStr_4=c.5589G>A;refseq.codonCoord_1=1796;refseq.codonCoord_2=924;refseq.codonCoord_3=1860;refseq.codonCoord_4=1863;refseq.end_1=20069068;refseq.end_2=20069068;refseq.end_3=20069068;refseq.end_4=20069068;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5617;refseq.mrnaCoord_2=2789;refseq.mrnaCoord_3=5941;refseq.mrnaCoord_4=5950;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1796T;refseq.proteinCoordStr_2=p.T924T;refseq.proteinCoordStr_3=p.T1860T;refseq.proteinCoordStr_4=p.T1863T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.spliceDist_4=-73;refseq.start_1=20069068;refseq.start_2=20069068;refseq.start_3=20069068;refseq.start_4=20069068;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr11 20081490 . A C 266.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=98.93;MQ0=0;OQ=12448.10;QD=38.18;RankSumP=1.00000;SB=-5547.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.6339A>C;refseq.codingCoordStr_2=c.3723A>C;refseq.codingCoordStr_3=c.6531A>C;refseq.codingCoordStr_4=c.6540A>C;refseq.codonCoord_1=2113;refseq.codonCoord_2=1241;refseq.codonCoord_3=2177;refseq.codonCoord_4=2180;refseq.end_1=20081490;refseq.end_2=20081490;refseq.end_3=20081490;refseq.end_4=20081490;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=6568;refseq.mrnaCoord_2=3740;refseq.mrnaCoord_3=6892;refseq.mrnaCoord_4=6901;refseq.name2_1=NAV2;refseq.name2_2=NAV2;refseq.name2_3=NAV2;refseq.name2_4=NAV2;refseq.name_1=NM_001111018;refseq.name_2=NM_001111019;refseq.name_3=NM_145117;refseq.name_4=NM_182964;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G2113G;refseq.proteinCoordStr_2=p.G1241G;refseq.proteinCoordStr_3=p.G2177G;refseq.proteinCoordStr_4=p.G2180G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.start_1=20081490;refseq.start_2=20081490;refseq.start_3=20081490;refseq.start_4=20081490;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=Intersection GT 1/1 chr11 20361189 . T G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=3;HaplotypeScore=3.32;MQ=98.36;MQ0=0;OQ=4185.84;QD=39.49;RankSumP=1.00000;SB=-1777.41;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.693T>G;refseq.codingCoordStr_2=c.591T>G;refseq.codingCoordStr_3=c.591T>G;refseq.codingCoordStr_4=c.591T>G;refseq.codonCoord_1=231;refseq.codonCoord_2=197;refseq.codonCoord_3=197;refseq.codonCoord_4=197;refseq.end_1=20361189;refseq.end_2=20361189;refseq.end_3=20361189;refseq.end_4=20361189;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=690;refseq.mrnaCoord_3=972;refseq.mrnaCoord_4=657;refseq.name2_1=HTATIP2;refseq.name2_2=HTATIP2;refseq.name2_3=HTATIP2;refseq.name2_4=HTATIP2;refseq.name_1=NM_001098520;refseq.name_2=NM_001098521;refseq.name_3=NM_001098522;refseq.name_4=NM_006410;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S231R;refseq.proteinCoordStr_2=p.S197R;refseq.proteinCoordStr_3=p.S197R;refseq.proteinCoordStr_4=p.S197R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=88;refseq.spliceDist_4=88;refseq.start_1=20361189;refseq.start_2=20361189;refseq.start_3=20361189;refseq.start_4=20361189;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 1/1 chr11 20486462 . G A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=1;HaplotypeScore=16.99;MQ=98.68;MQ0=0;OQ=12184.38;QD=42.45;RankSumP=1.00000;SB=-4450.72;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1337G>A;refseq.codingCoordStr_2=c.1292G>A;refseq.codingCoordStr_3=c.1523G>A;refseq.codonCoord_1=446;refseq.codonCoord_2=431;refseq.codonCoord_3=508;refseq.end_1=20486462;refseq.end_2=20486462;refseq.end_3=20486462;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1554;refseq.mrnaCoord_2=1604;refseq.mrnaCoord_3=1740;refseq.name2_1=PRMT3;refseq.name2_2=PRMT3;refseq.name2_3=PRMT3;refseq.name_1=NM_001145166;refseq.name_2=NM_001145167;refseq.name_3=NM_005788;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S446N;refseq.proteinCoordStr_2=p.S431N;refseq.proteinCoordStr_3=p.S508N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.start_1=20486462;refseq.start_2=20486462;refseq.start_3=20486462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr11 20486537 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.*2A>C;refseq.codingCoordStr_2=c.*2A>C;refseq.codingCoordStr_3=c.*2A>C;refseq.end_1=20486537;refseq.end_2=20486537;refseq.end_3=20486537;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1629;refseq.mrnaCoord_2=1679;refseq.mrnaCoord_3=1815;refseq.name2_1=PRMT3;refseq.name2_2=PRMT3;refseq.name2_3=PRMT3;refseq.name_1=NM_001145166;refseq.name_2=NM_001145167;refseq.name_3=NM_005788;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.spliceDist_3=112;refseq.start_1=20486537;refseq.start_2=20486537;refseq.start_3=20486537;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 0/1 chr11 20579551 . G A 30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=13;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=96.45;MQ0=0;OQ=475.69;QD=36.59;RankSumP=1.00000;SB=-171.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.304G>A;refseq.codonCoord=102;refseq.end=20579551;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_004211;refseq.name2=SLC6A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G102S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-237;refseq.start=20579551;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr11 20579618 . T C 348.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2372.01;QD=36.49;RankSumP=1.00000;SB=-611.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.371T>C;refseq.codonCoord=124;refseq.end=20579618;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_004211;refseq.name2=SLC6A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F124S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-170;refseq.start=20579618;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 20579732 . C G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=2;HaplotypeScore=6.40;MQ=98.38;MQ0=0;OQ=6912.14;QD=41.64;RankSumP=1.00000;SB=-3031.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.485C>G;refseq.codonCoord=162;refseq.end=20579732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_004211;refseq.name2=SLC6A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A162G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-56;refseq.start=20579732;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 20595976 . A G 236.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=513;Dels=0.00;HRun=0;HaplotypeScore=12.42;MQ=98.82;MQ0=0;OQ=19323.82;QD=37.67;RankSumP=1.00000;SB=-6100.15;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1230A>G;refseq.codonCoord=410;refseq.end=20595976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1503;refseq.name=NM_004211;refseq.name2=SLC6A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S410S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-31;refseq.start=20595976;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr11 20630443 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=487;Dels=0.00;HRun=1;HaplotypeScore=14.55;MQ=98.76;MQ0=0;OQ=10319.37;QD=21.19;RankSumP=0.469188;SB=-3678.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2103G>A;refseq.codonCoord=701;refseq.end=20630443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2376;refseq.name=NM_004211;refseq.name2=SLC6A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E701E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=33;refseq.start=20630443;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr11 20761862 . G A 199.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=13.23;MQ=98.71;MQ0=0;OQ=17203.49;QD=41.96;RankSumP=1.00000;SB=-6117.74;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.245G>A;refseq.codingCoordStr_2=c.245G>A;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.end_1=20761862;refseq.end_2=20761862;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=398;refseq.name2_1=NELL1;refseq.name2_2=NELL1;refseq.name_1=NM_006157;refseq.name_2=NM_201551;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R82Q;refseq.proteinCoordStr_2=p.R82Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=20761862;refseq.start_2=20761862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr11 21538381 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=477;Dels=0.00;HRun=3;HaplotypeScore=8.52;MQ=98.83;MQ0=0;OQ=19992.41;QD=41.91;RankSumP=1.00000;SB=-6924.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1857C>T;refseq.codingCoordStr_2=c.1716C>T;refseq.codonCoord_1=619;refseq.codonCoord_2=572;refseq.end_1=21538381;refseq.end_2=21538381;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2010;refseq.mrnaCoord_2=1869;refseq.name2_1=NELL1;refseq.name2_2=NELL1;refseq.name_1=NM_006157;refseq.name_2=NM_201551;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G619G;refseq.proteinCoordStr_2=p.G572G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=21538381;refseq.start_2=21538381;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr11 22199305 . T C 411.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=6110.24;QD=38.43;RankSumP=1.00000;SB=-2357.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.264T>C;refseq.codingCoordStr_2=c.267T>C;refseq.codonCoord_1=88;refseq.codonCoord_2=89;refseq.end_1=22199305;refseq.end_2=22199305;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=581;refseq.mrnaCoord_2=584;refseq.name2_1=ANO5;refseq.name2_2=ANO5;refseq.name_1=NM_001142649;refseq.name_2=NM_213599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D88D;refseq.proteinCoordStr_2=p.D89D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=22199305;refseq.start_2=22199305;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr11 22228446 . A T 88.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=115;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4688.20;QD=40.77;RankSumP=1.00000;SB=-1673.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.963A>T;refseq.codingCoordStr_2=c.966A>T;refseq.codonCoord_1=321;refseq.codonCoord_2=322;refseq.end_1=22228446;refseq.end_2=22228446;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1280;refseq.mrnaCoord_2=1283;refseq.name2_1=ANO5;refseq.name2_2=ANO5;refseq.name_1=NM_001142649;refseq.name_2=NM_213599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L321F;refseq.proteinCoordStr_2=p.L322F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=22228446;refseq.start_2=22228446;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr11 22653027 . A G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=207;Dels=0.00;HRun=2;HaplotypeScore=6.45;MQ=98.91;MQ0=0;OQ=7169.72;QD=34.64;RankSumP=1.00000;SB=-3578.76;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.36A>G;refseq.codingCoordStr_2=c.36A>G;refseq.codingCoordStr_3=c.36A>G;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.codonCoord_3=12;refseq.end_1=22653027;refseq.end_2=22653027;refseq.end_3=22653027;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=342;refseq.mrnaCoord_2=133;refseq.mrnaCoord_3=284;refseq.name2_1=GAS2;refseq.name2_2=GAS2;refseq.name2_3=GAS2;refseq.name_1=NM_001143830;refseq.name_2=NM_005256;refseq.name_3=NM_177553;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G12G;refseq.proteinCoordStr_2=p.G12G;refseq.proteinCoordStr_3=p.G12G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=56;refseq.spliceDist_2=-110;refseq.spliceDist_3=56;refseq.start_1=22653027;refseq.start_2=22653027;refseq.start_3=22653027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/1 chr11 25055514 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=546;Dels=0.00;HRun=2;HaplotypeScore=19.07;MQ=98.89;MQ0=0;OQ=27124.76;QD=49.68;RankSumP=1.00000;SB=-7672.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.922G>C;refseq.codonCoord=308;refseq.end=25055514;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_001009909;refseq.name2=LUZP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E308Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-15;refseq.start=25055514;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr11 26525542 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=964;Dels=0.00;HRun=0;HaplotypeScore=11.71;MQ=98.89;MQ0=0;OQ=40816.06;QD=42.34;RankSumP=1.00000;SB=-16242.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1158A>G;refseq.codonCoord=386;refseq.end=26525542;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_031418;refseq.name2=ANO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L386L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=26525542;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 26543377 . G A 306.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=99.00;MQ0=0;OQ=10452.77;QD=41.81;RankSumP=1.00000;SB=-4750.89;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.686C>T;refseq.codingCoordStr_3=c.686C>T;refseq.codingCoordStr_4=c.605C>T;refseq.codonCoord_2=229;refseq.codonCoord_3=229;refseq.codonCoord_4=202;refseq.end_1=26576477;refseq.end_2=26543377;refseq.end_3=26543377;refseq.end_4=26543377;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=959;refseq.mrnaCoord_3=959;refseq.mrnaCoord_4=871;refseq.name2_1=ANO3;refseq.name2_2=MUC15;refseq.name2_3=MUC15;refseq.name2_4=MUC15;refseq.name_1=NM_031418;refseq.name_2=NM_001135091;refseq.name_3=NM_001135092;refseq.name_4=NM_145650;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T229I;refseq.proteinCoordStr_3=p.T229I;refseq.proteinCoordStr_4=p.T202I;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=-90;refseq.spliceDist_3=-90;refseq.spliceDist_4=-90;refseq.start_1=26537913;refseq.start_2=26543377;refseq.start_3=26543377;refseq.start_4=26543377;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/1 chr11 26543566 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=678;Dels=0.00;HRun=0;HaplotypeScore=11.88;MQ=98.90;MQ0=0;OQ=13664.18;QD=20.15;RankSumP=0.403353;SB=-5819.61;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.497A>G;refseq.codingCoordStr_3=c.497A>G;refseq.codingCoordStr_4=c.416A>G;refseq.codonCoord_2=166;refseq.codonCoord_3=166;refseq.codonCoord_4=139;refseq.end_1=26576477;refseq.end_2=26543566;refseq.end_3=26543566;refseq.end_4=26543566;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=770;refseq.mrnaCoord_3=770;refseq.mrnaCoord_4=682;refseq.name2_1=ANO3;refseq.name2_2=MUC15;refseq.name2_3=MUC15;refseq.name2_4=MUC15;refseq.name_1=NM_031418;refseq.name_2=NM_001135091;refseq.name_3=NM_001135092;refseq.name_4=NM_145650;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.N166S;refseq.proteinCoordStr_3=p.N166S;refseq.proteinCoordStr_4=p.N139S;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_2=-279;refseq.spliceDist_3=-279;refseq.spliceDist_4=-279;refseq.start_1=26537913;refseq.start_2=26543566;refseq.start_3=26543566;refseq.start_4=26543566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/0 chr11 26543709 . T C 296.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.93;MQ0=0;OQ=9681.79;QD=36.81;RankSumP=1.00000;SB=-4340.09;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.354A>G;refseq.codingCoordStr_3=c.354A>G;refseq.codingCoordStr_4=c.273A>G;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.codonCoord_4=91;refseq.end_1=26576477;refseq.end_2=26543709;refseq.end_3=26543709;refseq.end_4=26543709;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=627;refseq.mrnaCoord_3=627;refseq.mrnaCoord_4=539;refseq.name2_1=ANO3;refseq.name2_2=MUC15;refseq.name2_3=MUC15;refseq.name2_4=MUC15;refseq.name_1=NM_031418;refseq.name_2=NM_001135091;refseq.name_3=NM_001135092;refseq.name_4=NM_145650;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S118S;refseq.proteinCoordStr_3=p.S118S;refseq.proteinCoordStr_4=p.S91S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_2=311;refseq.spliceDist_3=311;refseq.spliceDist_4=311;refseq.start_1=26537913;refseq.start_2=26543709;refseq.start_3=26543709;refseq.start_4=26543709;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=Intersection GT 1/1 chr11 26617284 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2061T>G;refseq.codonCoord=687;refseq.end=26617284;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2206;refseq.name=NM_031418;refseq.name2=ANO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C687W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=18;refseq.start=26617284;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr11 26651555 . A G 203.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.69;MQ0=0;OQ=2452.68;QD=14.51;RankSumP=0.238078;SB=-1170.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1677T>C;refseq.codonCoord=559;refseq.end=26651555;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_178498;refseq.name2=SLC5A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C559C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-31;refseq.start=26651555;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr11 26659240 . C T 339.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.77;MQ0=0;OQ=6850.44;QD=40.78;RankSumP=1.00000;SB=-1628.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1413G>A;refseq.codonCoord=471;refseq.end=26659240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1726;refseq.name=NM_178498;refseq.name2=SLC5A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L471L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-63;refseq.start=26659240;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr11 26675308 . C A 23.05 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=95;Dels=0.00;HRun=2;HaplotypeScore=38.53;MQ=97.51;MQ0=0;QD=0.24;RankSumP=0.00000;SB=152.54;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1019G>T;refseq.codonCoord=340;refseq.end=26675308;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1332;refseq.name=NM_178498;refseq.name2=SLC5A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C340F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-22;refseq.start=26675308;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr11 26690785 . C T 316.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=4.52;MQ=98.28;MQ0=0;OQ=5619.99;QD=42.26;RankSumP=1.00000;SB=-2247.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.384G>A;refseq.codonCoord=128;refseq.end=26690785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_178498;refseq.name2=SLC5A12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T128T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-22;refseq.start=26690785;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 27033694 . C T 249.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.86;MQ0=0;OQ=9154.60;QD=43.18;RankSumP=1.00000;SB=-4133.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.141C>T;refseq.codonCoord=47;refseq.end=27033694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_003986;refseq.name2=BBOX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S47S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-79;refseq.start=27033694;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 27071364 . C T 361.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=9.06;MQ=98.64;MQ0=0;OQ=5586.69;QD=20.32;RankSumP=0.461554;SB=-2220.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.408C>T;refseq.codonCoord=136;refseq.end=27071364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_003986;refseq.name2=BBOX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H136H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=74;refseq.start=27071364;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr11 27103846 . G A 171.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=1246.41;QD=17.56;RankSumP=0.425433;SB=-162.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.906G>A;refseq.codonCoord=302;refseq.end=27103846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_003986;refseq.name2=BBOX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V302V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=70;refseq.start=27103846;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr11 27346257 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=507;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.78;MQ0=0;OQ=8831.11;QD=17.42;RankSumP=0.341150;SB=-2554.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2589G>A;refseq.codonCoord=863;refseq.end=27346257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3074;refseq.name=NM_018490;refseq.name2=LGR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S863S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1010;refseq.start=27346257;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr11 27346665 . T C 151.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=471;Dels=0.00;HRun=0;HaplotypeScore=6.12;MQ=98.74;MQ0=0;OQ=18991.76;QD=40.32;RankSumP=1.00000;SB=-7912.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2181A>G;refseq.codonCoord=727;refseq.end=27346665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2666;refseq.name=NM_018490;refseq.name2=LGR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K727K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=602;refseq.start=27346665;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 27363420 . G A 452.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=98.92;MQ0=0;OQ=4360.02;QD=39.64;RankSumP=1.00000;SB=-1529.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.573C>T;refseq.codonCoord=191;refseq.end=27363420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_018490;refseq.name2=LGR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S191S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-45;refseq.start=27363420;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr11 27636238 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=612;Dels=0.00;HRun=1;HaplotypeScore=50.24;MQ=97.15;MQ0=0;OQ=18214.01;QD=29.76;RankSumP=1.00000;SB=-8520.74;SecondBestBaseQ=32;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_15=false;refseq.changesAA_16=false;refseq.changesAA_17=false;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.changesAA_20=false;refseq.changesAA_21=false;refseq.changesAA_22=false;refseq.changesAA_23=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr11;refseq.chr_10=chr11;refseq.chr_11=chr11;refseq.chr_12=chr11;refseq.chr_13=chr11;refseq.chr_14=chr11;refseq.chr_15=chr11;refseq.chr_16=chr11;refseq.chr_17=chr11;refseq.chr_18=chr11;refseq.chr_19=chr11;refseq.chr_2=chr11;refseq.chr_20=chr11;refseq.chr_21=chr11;refseq.chr_22=chr11;refseq.chr_23=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.chr_8=chr11;refseq.chr_9=chr11;refseq.codingCoordStr_10=c.537A>G;refseq.codingCoordStr_11=c.696A>G;refseq.codingCoordStr_12=c.450A>G;refseq.codingCoordStr_13=c.450A>G;refseq.codingCoordStr_14=c.450A>G;refseq.codingCoordStr_15=c.450A>G;refseq.codingCoordStr_16=c.450A>G;refseq.codingCoordStr_17=c.450A>G;refseq.codingCoordStr_18=c.450A>G;refseq.codingCoordStr_19=c.474A>G;refseq.codingCoordStr_20=c.450A>G;refseq.codingCoordStr_21=c.450A>G;refseq.codingCoordStr_22=c.495A>G;refseq.codingCoordStr_23=c.450A>G;refseq.codingCoordStr_6=c.450A>G;refseq.codingCoordStr_7=c.450A>G;refseq.codingCoordStr_8=c.450A>G;refseq.codingCoordStr_9=c.450A>G;refseq.codonCoord_10=179;refseq.codonCoord_11=232;refseq.codonCoord_12=150;refseq.codonCoord_13=150;refseq.codonCoord_14=150;refseq.codonCoord_15=150;refseq.codonCoord_16=150;refseq.codonCoord_17=150;refseq.codonCoord_18=150;refseq.codonCoord_19=158;refseq.codonCoord_20=150;refseq.codonCoord_21=150;refseq.codonCoord_22=165;refseq.codonCoord_23=150;refseq.codonCoord_6=150;refseq.codonCoord_7=150;refseq.codonCoord_8=150;refseq.codonCoord_9=150;refseq.end_1=27636353;refseq.end_10=27636238;refseq.end_11=27636238;refseq.end_12=27636238;refseq.end_13=27636238;refseq.end_14=27636238;refseq.end_15=27636238;refseq.end_16=27636238;refseq.end_17=27636238;refseq.end_18=27636238;refseq.end_19=27636238;refseq.end_2=27636353;refseq.end_20=27636238;refseq.end_21=27636238;refseq.end_22=27636238;refseq.end_23=27636238;refseq.end_3=27636353;refseq.end_4=27636353;refseq.end_5=27636353;refseq.end_6=27636238;refseq.end_7=27636238;refseq.end_8=27636238;refseq.end_9=27636238;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_15=2;refseq.frame_16=2;refseq.frame_17=2;refseq.frame_18=2;refseq.frame_19=2;refseq.frame_20=2;refseq.frame_21=2;refseq.frame_22=2;refseq.frame_23=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_15=silent;refseq.functionalClass_16=silent;refseq.functionalClass_17=silent;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.functionalClass_20=silent;refseq.functionalClass_21=silent;refseq.functionalClass_22=silent;refseq.functionalClass_23=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_15=C;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeAlternate_18=C;refseq.haplotypeAlternate_19=C;refseq.haplotypeAlternate_20=C;refseq.haplotypeAlternate_21=C;refseq.haplotypeAlternate_22=C;refseq.haplotypeAlternate_23=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_13=T;refseq.haplotypeReference_14=T;refseq.haplotypeReference_15=T;refseq.haplotypeReference_16=T;refseq.haplotypeReference_17=T;refseq.haplotypeReference_18=T;refseq.haplotypeReference_19=T;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=T;refseq.haplotypeReference_21=T;refseq.haplotypeReference_22=T;refseq.haplotypeReference_23=T;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_20=true;refseq.inCodingRegion_21=true;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_10=554;refseq.mrnaCoord_11=837;refseq.mrnaCoord_12=954;refseq.mrnaCoord_13=696;refseq.mrnaCoord_14=778;refseq.mrnaCoord_15=903;refseq.mrnaCoord_16=656;refseq.mrnaCoord_17=1301;refseq.mrnaCoord_18=796;refseq.mrnaCoord_19=1118;refseq.mrnaCoord_20=905;refseq.mrnaCoord_21=808;refseq.mrnaCoord_22=757;refseq.mrnaCoord_23=1535;refseq.mrnaCoord_6=607;refseq.mrnaCoord_7=822;refseq.mrnaCoord_8=708;refseq.mrnaCoord_9=544;refseq.name2_1=BDNFOS;refseq.name2_10=BDNF;refseq.name2_11=BDNF;refseq.name2_12=BDNF;refseq.name2_13=BDNF;refseq.name2_14=BDNF;refseq.name2_15=BDNF;refseq.name2_16=BDNF;refseq.name2_17=BDNF;refseq.name2_18=BDNF;refseq.name2_19=BDNF;refseq.name2_2=BDNFOS;refseq.name2_20=BDNF;refseq.name2_21=BDNF;refseq.name2_22=BDNF;refseq.name2_23=BDNF;refseq.name2_3=BDNFOS;refseq.name2_4=BDNFOS;refseq.name2_5=BDNFOS;refseq.name2_6=BDNF;refseq.name2_7=BDNF;refseq.name2_8=BDNF;refseq.name2_9=BDNF;refseq.name_1=NR_002832;refseq.name_10=NM_001143809;refseq.name_11=NM_001143810;refseq.name_12=NM_001143811;refseq.name_13=NM_001143812;refseq.name_14=NM_001143813;refseq.name_15=NM_001143814;refseq.name_16=NM_001143815;refseq.name_17=NM_001143816;refseq.name_18=NM_001709;refseq.name_19=NM_170731;refseq.name_2=NR_033312;refseq.name_20=NM_170732;refseq.name_21=NM_170733;refseq.name_22=NM_170734;refseq.name_23=NM_170735;refseq.name_3=NR_033313;refseq.name_4=NR_033314;refseq.name_5=NR_033315;refseq.name_6=NM_001143805;refseq.name_7=NM_001143806;refseq.name_8=NM_001143807;refseq.name_9=NM_001143808;refseq.numMatchingRecords=23;refseq.positionType_1=non_coding_intron;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=non_coding_intron;refseq.positionType_20=CDS;refseq.positionType_21=CDS;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_10=p.A179A;refseq.proteinCoordStr_11=p.A232A;refseq.proteinCoordStr_12=p.A150A;refseq.proteinCoordStr_13=p.A150A;refseq.proteinCoordStr_14=p.A150A;refseq.proteinCoordStr_15=p.A150A;refseq.proteinCoordStr_16=p.A150A;refseq.proteinCoordStr_17=p.A150A;refseq.proteinCoordStr_18=p.A150A;refseq.proteinCoordStr_19=p.A158A;refseq.proteinCoordStr_20=p.A150A;refseq.proteinCoordStr_21=p.A150A;refseq.proteinCoordStr_22=p.A165A;refseq.proteinCoordStr_23=p.A150A;refseq.proteinCoordStr_6=p.A150A;refseq.proteinCoordStr_7=p.A150A;refseq.proteinCoordStr_8=p.A150A;refseq.proteinCoordStr_9=p.A150A;refseq.referenceAA_10=Ala;refseq.referenceAA_11=Ala;refseq.referenceAA_12=Ala;refseq.referenceAA_13=Ala;refseq.referenceAA_14=Ala;refseq.referenceAA_15=Ala;refseq.referenceAA_16=Ala;refseq.referenceAA_17=Ala;refseq.referenceAA_18=Ala;refseq.referenceAA_19=Ala;refseq.referenceAA_20=Ala;refseq.referenceAA_21=Ala;refseq.referenceAA_22=Ala;refseq.referenceAA_23=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_10=GCA;refseq.referenceCodon_11=GCA;refseq.referenceCodon_12=GCA;refseq.referenceCodon_13=GCA;refseq.referenceCodon_14=GCA;refseq.referenceCodon_15=GCA;refseq.referenceCodon_16=GCA;refseq.referenceCodon_17=GCA;refseq.referenceCodon_18=GCA;refseq.referenceCodon_19=GCA;refseq.referenceCodon_20=GCA;refseq.referenceCodon_21=GCA;refseq.referenceCodon_22=GCA;refseq.referenceCodon_23=GCA;refseq.referenceCodon_6=GCA;refseq.referenceCodon_7=GCA;refseq.referenceCodon_8=GCA;refseq.referenceCodon_9=GCA;refseq.spliceDist_10=471;refseq.spliceDist_11=471;refseq.spliceDist_12=471;refseq.spliceDist_13=471;refseq.spliceDist_14=471;refseq.spliceDist_15=471;refseq.spliceDist_16=471;refseq.spliceDist_17=471;refseq.spliceDist_18=471;refseq.spliceDist_19=471;refseq.spliceDist_20=471;refseq.spliceDist_21=471;refseq.spliceDist_22=471;refseq.spliceDist_23=1535;refseq.spliceDist_6=471;refseq.spliceDist_7=471;refseq.spliceDist_8=471;refseq.spliceDist_9=471;refseq.start_1=27618139;refseq.start_10=27636238;refseq.start_11=27636238;refseq.start_12=27636238;refseq.start_13=27636238;refseq.start_14=27636238;refseq.start_15=27636238;refseq.start_16=27636238;refseq.start_17=27636238;refseq.start_18=27636238;refseq.start_19=27636238;refseq.start_2=27618139;refseq.start_20=27636238;refseq.start_21=27636238;refseq.start_22=27636238;refseq.start_23=27636238;refseq.start_3=27618139;refseq.start_4=27618139;refseq.start_5=27618139;refseq.start_6=27636238;refseq.start_7=27636238;refseq.start_8=27636238;refseq.start_9=27636238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_19=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=-;refseq.transcriptStrand_21=-;refseq.transcriptStrand_22=-;refseq.transcriptStrand_23=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_10=Ala;refseq.variantAA_11=Ala;refseq.variantAA_12=Ala;refseq.variantAA_13=Ala;refseq.variantAA_14=Ala;refseq.variantAA_15=Ala;refseq.variantAA_16=Ala;refseq.variantAA_17=Ala;refseq.variantAA_18=Ala;refseq.variantAA_19=Ala;refseq.variantAA_20=Ala;refseq.variantAA_21=Ala;refseq.variantAA_22=Ala;refseq.variantAA_23=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_10=GCG;refseq.variantCodon_11=GCG;refseq.variantCodon_12=GCG;refseq.variantCodon_13=GCG;refseq.variantCodon_14=GCG;refseq.variantCodon_15=GCG;refseq.variantCodon_16=GCG;refseq.variantCodon_17=GCG;refseq.variantCodon_18=GCG;refseq.variantCodon_19=GCG;refseq.variantCodon_20=GCG;refseq.variantCodon_21=GCG;refseq.variantCodon_22=GCG;refseq.variantCodon_23=GCG;refseq.variantCodon_6=GCG;refseq.variantCodon_7=GCG;refseq.variantCodon_8=GCG;refseq.variantCodon_9=GCG;set=soap-filterIngatk GT 1/1 chr11 27677513 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=145;Dels=0.01;HRun=2;HaplotypeScore=17.54;MQ=98.66;MQ0=0;OQ=2649.49;QD=18.27;RankSumP=0.113109;SB=-1255.48;SecondBestBaseQ=32;refseq.changesAA_16=true;refseq.chr_1=chr11;refseq.chr_10=chr11;refseq.chr_11=chr11;refseq.chr_12=chr11;refseq.chr_13=chr11;refseq.chr_14=chr11;refseq.chr_15=chr11;refseq.chr_16=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.chr_8=chr11;refseq.chr_9=chr11;refseq.codingCoordStr_16=c.16G>A;refseq.codonCoord_16=6;refseq.end_1=27677595;refseq.end_10=27698541;refseq.end_11=27698756;refseq.end_12=27699524;refseq.end_13=27678276;refseq.end_14=27679083;refseq.end_15=27679083;refseq.end_16=27677513;refseq.end_2=27678276;refseq.end_3=27678294;refseq.end_4=27678788;refseq.end_5=27679083;refseq.end_6=27679093;refseq.end_7=27679409;refseq.end_8=27697623;refseq.end_9=27698458;refseq.frame_16=0;refseq.functionalClass_16=missense;refseq.haplotypeAlternate_16=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=C;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_13=false;refseq.inCodingRegion_14=false;refseq.inCodingRegion_15=false;refseq.inCodingRegion_16=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_16=278;refseq.name2_1=BDNF;refseq.name2_10=BDNF;refseq.name2_11=BDNF;refseq.name2_12=BDNF;refseq.name2_13=BDNF;refseq.name2_14=BDNF;refseq.name2_15=BDNF;refseq.name2_16=BDNF;refseq.name2_2=BDNF;refseq.name2_3=BDNF;refseq.name2_4=BDNF;refseq.name2_5=BDNF;refseq.name2_6=BDNF;refseq.name2_7=BDNF;refseq.name2_8=BDNF;refseq.name2_9=BDNF;refseq.name_1=NM_001143815;refseq.name_10=NM_001143806;refseq.name_11=NM_001143805;refseq.name_12=NM_170731;refseq.name_13=NM_001143814;refseq.name_14=NM_001143810;refseq.name_15=NM_001143811;refseq.name_16=NM_170734;refseq.name_2=NM_001709;refseq.name_3=NM_001143813;refseq.name_4=NM_001143812;refseq.name_5=NM_001143809;refseq.name_6=NM_001143808;refseq.name_7=NM_170733;refseq.name_8=NM_001143807;refseq.name_9=NM_170732;refseq.numMatchingRecords=16;refseq.positionType_1=intron;refseq.positionType_10=intron;refseq.positionType_11=intron;refseq.positionType_12=intron;refseq.positionType_13=intron;refseq.positionType_14=intron;refseq.positionType_15=intron;refseq.positionType_16=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=intron;refseq.positionType_9=intron;refseq.proteinCoordStr_16=p.E6K;refseq.referenceAA_16=Glu;refseq.referenceCodon_16=GAG;refseq.spliceDist_16=-9;refseq.spliceInfo_16=splice-donor_-9;refseq.start_1=27636719;refseq.start_10=27636719;refseq.start_11=27636719;refseq.start_12=27636719;refseq.start_13=27637060;refseq.start_14=27652476;refseq.start_15=27652476;refseq.start_16=27677513;refseq.start_2=27636719;refseq.start_3=27636719;refseq.start_4=27636719;refseq.start_5=27636719;refseq.start_6=27636719;refseq.start_7=27636719;refseq.start_8=27636719;refseq.start_9=27636719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_16=Lys;refseq.variantCodon_16=AAG;set=Intersection GT 0/1 chr11 30211761 . C T 313.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=98.89;MQ0=0;OQ=3000.70;QD=17.05;RankSumP=0.397221;SB=-1194.74;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.228C>T;refseq.codingCoordStr_2=c.228C>T;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=30211761;refseq.end_2=30211761;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=267;refseq.name2_1=FSHB;refseq.name2_2=FSHB;refseq.name_1=NM_000510;refseq.name_2=NM_001018080;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y76Y;refseq.proteinCoordStr_2=p.Y76Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=30211761;refseq.start_2=30211761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr11 31283892 . C T 118.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.94;MQ0=0;OQ=2206.66;QD=15.99;RankSumP=0.480209;SB=-398.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.600G>A;refseq.codonCoord=200;refseq.end=31283892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_181807;refseq.name2=DCDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E200E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=31283892;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr11 32081554 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=22.90;MQ=76.81;MQ0=158;OQ=6571.36;QD=12.19;RankSumP=0.452249;SB=-1995.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.840T>C;refseq.codonCoord=280;refseq.end=32081554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_002901;refseq.name2=RCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H280H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-49;refseq.start=32081554;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 32082537 . C T 182.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=9.42;MQ=82.03;MQ0=11;OQ=4167.49;QD=17.22;RankSumP=0.0813863;SB=-1274.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.939C>T;refseq.codonCoord=313;refseq.end=32082537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1205;refseq.name=NM_002901;refseq.name2=RCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V313V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=51;refseq.start=32082537;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr11 32910920 . G A 339.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.99;MQ0=0;OQ=11993.99;QD=41.79;RankSumP=1.00000;SB=-4269.47;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1153G>A;refseq.codonCoord=385;refseq.end=32910920;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_001076786;refseq.name2=QSER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V385I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=1056;refseq.start=32910920;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 32912820 . A G 263.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.88;MQ0=0;OQ=12292.54;QD=42.10;RankSumP=1.00000;SB=-5002.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3053A>G;refseq.codonCoord=1018;refseq.end=32912820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3320;refseq.name=NM_001076786;refseq.name2=QSER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1018S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-738;refseq.start=32912820;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr11 32913196 . A G 257.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2157.85;QD=37.20;RankSumP=1.00000;SB=-992.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3429A>G;refseq.codonCoord=1143;refseq.end=32913196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3696;refseq.name=NM_001076786;refseq.name2=QSER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1143P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-362;refseq.start=32913196;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 33009683 . C T 309.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=98.92;MQ0=0;OQ=5994.43;QD=20.05;RankSumP=0.316105;SB=-1719.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.966C>T;refseq.codingCoordStr_2=c.939C>T;refseq.codonCoord_1=322;refseq.codonCoord_2=313;refseq.end_1=33009683;refseq.end_2=33009683;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=1297;refseq.name2_1=DEPDC7;refseq.name2_2=DEPDC7;refseq.name_1=NM_001077242;refseq.name_2=NM_139160;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D322D;refseq.proteinCoordStr_2=p.D313D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=33009683;refseq.start_2=33009683;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr11 33010563 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1100T>G;refseq.codingCoordStr_2=c.1073T>G;refseq.codonCoord_1=367;refseq.codonCoord_2=358;refseq.end_1=33010563;refseq.end_2=33010563;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1192;refseq.mrnaCoord_2=1431;refseq.name2_1=DEPDC7;refseq.name2_2=DEPDC7;refseq.name_1=NM_001077242;refseq.name_2=NM_139160;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V367G;refseq.proteinCoordStr_2=p.V358G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=33010563;refseq.start_2=33010563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr11 33011432 . C T 177.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=99.00;MQ0=0;OQ=1814.26;QD=17.61;RankSumP=0.353881;SB=-579.33;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1391C>T;refseq.codingCoordStr_2=c.1364C>T;refseq.codonCoord_1=464;refseq.codonCoord_2=455;refseq.end_1=33011432;refseq.end_2=33011432;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1483;refseq.mrnaCoord_2=1722;refseq.name2_1=DEPDC7;refseq.name2_2=DEPDC7;refseq.name_1=NM_001077242;refseq.name_2=NM_139160;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T464I;refseq.proteinCoordStr_2=p.T455I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=33011432;refseq.start_2=33011432;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr11 33021970 . C T 131.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1799.97;QD=15.52;RankSumP=0.246834;SB=-806.71;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.75C>T;refseq.codingCoordStr_2=c.75C>T;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=33021970;refseq.end_2=33021970;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=291;refseq.mrnaCoord_2=475;refseq.name2_1=TCP11L1;refseq.name2_2=TCP11L1;refseq.name_1=NM_001145541;refseq.name_2=NM_018393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L25L;refseq.proteinCoordStr_2=p.L25L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=33021970;refseq.start_2=33021970;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr11 33032767 . T C 352.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=11.06;MQ=98.92;MQ0=0;OQ=6072.56;QD=18.35;RankSumP=0.344060;SB=-2213.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.216T>C;refseq.codingCoordStr_2=c.216T>C;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=33032767;refseq.end_2=33032767;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=432;refseq.mrnaCoord_2=616;refseq.name2_1=TCP11L1;refseq.name2_2=TCP11L1;refseq.name_1=NM_001145541;refseq.name_2=NM_018393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G72G;refseq.proteinCoordStr_2=p.G72G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=33032767;refseq.start_2=33032767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr11 33039839 . G A 186.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.48;MQ0=0;OQ=2447.65;QD=16.21;RankSumP=0.479477;SB=-1200.79;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.963G>A;refseq.codingCoordStr_2=c.963G>A;refseq.codonCoord_1=321;refseq.codonCoord_2=321;refseq.end_1=33039839;refseq.end_2=33039839;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1179;refseq.mrnaCoord_2=1363;refseq.name2_1=TCP11L1;refseq.name2_2=TCP11L1;refseq.name_1=NM_001145541;refseq.name_2=NM_018393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P321P;refseq.proteinCoordStr_2=p.P321P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=33039839;refseq.start_2=33039839;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr11 33044127 . A C 28.01 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=24;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.60;MQ0=0;QD=1.17;RankSumP=5.67028e-06;SB=20.09;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1148A>C;refseq.codingCoordStr_2=c.1148A>C;refseq.codonCoord_1=383;refseq.codonCoord_2=383;refseq.end_1=33044127;refseq.end_2=33044127;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1364;refseq.mrnaCoord_2=1548;refseq.name2_1=TCP11L1;refseq.name2_2=TCP11L1;refseq.name_1=NM_001145541;refseq.name_2=NM_018393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H383P;refseq.proteinCoordStr_2=p.H383P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=33044127;refseq.start_2=33044127;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr11 33265412 . T C 42.82 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=266;Dels=0.00;HRun=4;HaplotypeScore=30.82;MQ=97.90;MQ0=0;QD=0.16;RankSumP=0.00000;SB=402.36;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.876T>C;refseq.codingCoordStr_2=c.876T>C;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.end_1=33265412;refseq.end_2=33265412;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1146;refseq.mrnaCoord_2=1146;refseq.name2_1=HIPK3;refseq.name2_2=HIPK3;refseq.name_1=NM_001048200;refseq.name_2=NM_005734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S292S;refseq.proteinCoordStr_2=p.S292S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-222;refseq.spliceDist_2=-222;refseq.start_1=33265412;refseq.start_2=33265412;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 1/0 chr11 33325852 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2121T>G;refseq.codingCoordStr_2=c.2121T>G;refseq.codonCoord_1=707;refseq.codonCoord_2=707;refseq.end_1=33325852;refseq.end_2=33325852;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2391;refseq.mrnaCoord_2=2391;refseq.name2_1=HIPK3;refseq.name2_2=HIPK3;refseq.name_1=NM_001048200;refseq.name_2=NM_005734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G707G;refseq.proteinCoordStr_2=p.G707G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=33325852;refseq.start_2=33325852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 33326097 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2268G>C;refseq.codingCoordStr_2=c.2268G>C;refseq.codonCoord_1=756;refseq.codonCoord_2=756;refseq.end_1=33326097;refseq.end_2=33326097;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2538;refseq.mrnaCoord_2=2538;refseq.name2_1=HIPK3;refseq.name2_2=HIPK3;refseq.name_1=NM_001048200;refseq.name_2=NM_005734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q756H;refseq.proteinCoordStr_2=p.Q756H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=33326097;refseq.start_2=33326097;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 0/1 chr11 33837592 . T C 331.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.98;MQ0=0;OQ=9590.01;QD=38.98;RankSumP=1.00000;SB=-4533.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.363A>G;refseq.codingCoordStr_2=c.363A>G;refseq.codingCoordStr_3=c.570A>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=190;refseq.end_1=33837592;refseq.end_2=33837592;refseq.end_3=33837592;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=802;refseq.mrnaCoord_3=1400;refseq.name2_1=LMO2;refseq.name2_2=LMO2;refseq.name2_3=LMO2;refseq.name_1=NM_001142315;refseq.name_2=NM_001142316;refseq.name_3=NM_005574;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K121K;refseq.proteinCoordStr_2=p.K121K;refseq.proteinCoordStr_3=p.K190K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.spliceDist_3=106;refseq.start_1=33837592;refseq.start_2=33837592;refseq.start_3=33837592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr11 34030556 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.13A>C;refseq.codingCoordStr_2=c.13A>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=34030556;refseq.end_2=34030556;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=202;refseq.mrnaCoord_2=202;refseq.name2_1=CAPRIN1;refseq.name2_2=CAPRIN1;refseq.name_1=NM_005898;refseq.name_2=NM_203364;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T5P;refseq.proteinCoordStr_2=p.T5P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=34030556;refseq.start_2=34030556;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr11 34109515 . T C 344.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=3.04;MQ=98.56;MQ0=0;OQ=11111.92;QD=40.85;RankSumP=1.00000;SB=-4435.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1165T>C;refseq.codingCoordStr_2=c.1381T>C;refseq.codonCoord_1=389;refseq.codonCoord_2=461;refseq.end_1=34109515;refseq.end_2=34109515;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1410;refseq.mrnaCoord_2=1625;refseq.name2_1=NAT10;refseq.name2_2=NAT10;refseq.name_1=NM_001144030;refseq.name_2=NM_024662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y389H;refseq.proteinCoordStr_2=p.Y461H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=34109515;refseq.start_2=34109515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr11 34111217 . C T 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=14.38;MQ=98.79;MQ0=0;OQ=19058.48;QD=41.89;RankSumP=1.00000;SB=-6926.31;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1470C>T;refseq.codingCoordStr_2=c.1686C>T;refseq.codonCoord_1=490;refseq.codonCoord_2=562;refseq.end_1=34111217;refseq.end_2=34111217;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1930;refseq.name2_1=NAT10;refseq.name2_2=NAT10;refseq.name_1=NM_001144030;refseq.name_2=NM_024662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P490P;refseq.proteinCoordStr_2=p.P562P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=34111217;refseq.start_2=34111217;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr11 34439484 . C T 111.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=22.14;MQ=98.60;MQ0=0;OQ=4709.52;QD=16.82;RankSumP=0.0519169;SB=-1865.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1167C>T;refseq.codonCoord=389;refseq.end=34439484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_001752;refseq.name2=CAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D389D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-29;refseq.start=34439484;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 34458921 . T C 295.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.89;MQ0=0;OQ=8638.92;QD=20.82;RankSumP=0.317613;SB=-3058.44;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.645A>G;refseq.codingCoordStr_2=c.675A>G;refseq.codonCoord_1=215;refseq.codonCoord_2=225;refseq.end_1=34458921;refseq.end_2=34458921;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=756;refseq.mrnaCoord_2=905;refseq.name2_1=ELF5;refseq.name2_2=ELF5;refseq.name_1=NM_001422;refseq.name_2=NM_198381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T215T;refseq.proteinCoordStr_2=p.T225T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=34458921;refseq.start_2=34458921;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr11 34624751 . C T 339.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=98.48;MQ0=0;OQ=2531.59;QD=17.34;RankSumP=0.416342;SB=-1274.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.287C>T;refseq.codonCoord=96;refseq.end=34624751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_012153;refseq.name2=EHF;refseq.positionType=CDS;refseq.proteinCoordStr=p.A96V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-57;refseq.start=34624751;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 34627149 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.165355;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.351C>A;refseq.codonCoord=117;refseq.end=34627149;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_012153;refseq.name2=EHF;refseq.positionType=CDS;refseq.proteinCoordStr=p.C117*;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=34627149;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 1/0 chr11 34636976 . T A 236.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=98.48;MQ0=0;OQ=2630.51;QD=14.14;RankSumP=0.114370;SB=-1223.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.825T>A;refseq.codonCoord=275;refseq.end=34636976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_012153;refseq.name2=EHF;refseq.positionType=CDS;refseq.proteinCoordStr=p.I275I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=22;refseq.start=34636976;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr11 34866502 . T G 343.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=4.82;MQ=96.56;MQ0=0;OQ=7460.93;QD=40.11;RankSumP=1.00000;SB=-2777.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.375A>C;refseq.codonCoord=125;refseq.end=34866502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_015957;refseq.name2=APIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=50;refseq.start=34866502;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 34866973 . C T 448.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=97.39;MQ0=0;OQ=5186.09;QD=37.31;RankSumP=1.00000;SB=-1832.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.227G>A;refseq.codonCoord=76;refseq.end=34866973;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_015957;refseq.name2=APIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C76Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=20;refseq.start=34866973;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr11 34894389 . G A 273.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=4.49;MQ=98.69;MQ0=0;OQ=2916.19;QD=36.45;RankSumP=1.00000;SB=-1332.73;SecondBestBaseQ=2;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.-106G>A;refseq.codingCoordStr_2=c.-390G>A;refseq.codingCoordStr_3=c.-390G>A;refseq.codingCoordStr_4=c.19C>T;refseq.codonCoord_4=7;refseq.end_1=34894389;refseq.end_2=34894389;refseq.end_3=34894389;refseq.end_4=34894389;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=137;refseq.mrnaCoord_2=137;refseq.mrnaCoord_3=137;refseq.mrnaCoord_4=127;refseq.name2_1=PDHX;refseq.name2_2=PDHX;refseq.name2_3=PDHX;refseq.name2_4=APIP;refseq.name_1=NM_001135024;refseq.name_2=NM_001166158;refseq.name_3=NM_003477;refseq.name_4=NM_015957;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R7W;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=137;refseq.spliceDist_2=137;refseq.spliceDist_3=137;refseq.spliceDist_4=-39;refseq.start_1=34894389;refseq.start_2=34894389;refseq.start_3=34894389;refseq.start_4=34894389;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Trp;refseq.variantCodon_4=TGG;set=Intersection GT 1/1 chr11 34894841 . C T 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=97.41;MQ0=0;OQ=3075.74;QD=29.29;RankSumP=1.00000;SB=-617.29;SecondBestBaseQ=7;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.63C>T;refseq.codingCoordStr_3=c.63C>T;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=34909516;refseq.end_2=34894841;refseq.end_3=34894841;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=589;refseq.mrnaCoord_3=589;refseq.name2_1=PDHX;refseq.name2_2=PDHX;refseq.name2_3=PDHX;refseq.name_1=NM_001135024;refseq.name_2=NM_001166158;refseq.name_3=NM_003477;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P21P;refseq.proteinCoordStr_3=p.P21P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_2=-98;refseq.spliceDist_3=-98;refseq.start_1=34894620;refseq.start_2=34894841;refseq.start_3=34894841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr11 34944833 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=5;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.667A>C;refseq.codingCoordStr_3=c.712A>C;refseq.codonCoord_2=223;refseq.codonCoord_3=238;refseq.end_1=34962682;refseq.end_2=34944833;refseq.end_3=34944833;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=909;refseq.mrnaCoord_3=1238;refseq.name2_1=PDHX;refseq.name2_2=PDHX;refseq.name2_3=PDHX;refseq.name_1=NM_001166158;refseq.name_2=NM_001135024;refseq.name_3=NM_003477;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T223P;refseq.proteinCoordStr_3=p.T238P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.start_1=34925740;refseq.start_2=34944833;refseq.start_3=34944833;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr11 34948303 . T C 261.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.95;MQ0=0;OQ=11612.07;QD=42.38;RankSumP=1.00000;SB=-5249.41;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.813T>C;refseq.codingCoordStr_3=c.858T>C;refseq.codonCoord_2=271;refseq.codonCoord_3=286;refseq.end_1=34962682;refseq.end_2=34948303;refseq.end_3=34948303;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1055;refseq.mrnaCoord_3=1384;refseq.name2_1=PDHX;refseq.name2_2=PDHX;refseq.name2_3=PDHX;refseq.name_1=NM_001166158;refseq.name_2=NM_001135024;refseq.name_3=NM_003477;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V271V;refseq.proteinCoordStr_3=p.V286V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=34925740;refseq.start_2=34948303;refseq.start_3=34948303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr11 34962769 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1055T>G;refseq.codingCoordStr_2=c.419T>G;refseq.codingCoordStr_3=c.1100T>G;refseq.codonCoord_1=352;refseq.codonCoord_2=140;refseq.codonCoord_3=367;refseq.end_1=34962769;refseq.end_2=34962769;refseq.end_3=34962769;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1297;refseq.mrnaCoord_2=945;refseq.mrnaCoord_3=1626;refseq.name2_1=PDHX;refseq.name2_2=PDHX;refseq.name2_3=PDHX;refseq.name_1=NM_001135024;refseq.name_2=NM_001166158;refseq.name_3=NM_003477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V352G;refseq.proteinCoordStr_2=p.V140G;refseq.proteinCoordStr_3=p.V367G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.start_1=34962769;refseq.start_2=34962769;refseq.start_3=34962769;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 35182731 . A G 264.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.90;MQ0=0;OQ=4376.90;QD=21.46;RankSumP=0.469641;SB=-961.54;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_4=c.1250A>G;refseq.codingCoordStr_5=c.1121A>G;refseq.codonCoord_4=417;refseq.codonCoord_5=374;refseq.end_1=35199817;refseq.end_2=35186217;refseq.end_3=35192964;refseq.end_4=35182731;refseq.end_5=35182731;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=1684;refseq.mrnaCoord_5=1555;refseq.name2_1=CD44;refseq.name2_2=CD44;refseq.name2_3=CD44;refseq.name2_4=CD44;refseq.name2_5=CD44;refseq.name_1=NM_001001392;refseq.name_2=NM_001001390;refseq.name_3=NM_001001391;refseq.name_4=NM_000610;refseq.name_5=NM_001001389;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.K417R;refseq.proteinCoordStr_5=p.K374R;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.spliceDist_4=-33;refseq.spliceDist_5=-33;refseq.start_1=35154874;refseq.start_2=35168199;refseq.start_3=35168199;refseq.start_4=35182731;refseq.start_5=35182731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_4=AGA;refseq.variantCodon_5=AGA;set=Intersection GT 0/1 chr11 35186249 . T C 320.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=98.96;MQ0=0;OQ=9350.56;QD=20.78;RankSumP=0.243061;SB=-2575.09;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_3=c.1436T>C;refseq.codingCoordStr_4=c.1307T>C;refseq.codingCoordStr_5=c.689T>C;refseq.codonCoord_3=479;refseq.codonCoord_4=436;refseq.codonCoord_5=230;refseq.end_1=35199817;refseq.end_2=35192964;refseq.end_3=35186249;refseq.end_4=35186249;refseq.end_5=35186249;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=1870;refseq.mrnaCoord_4=1741;refseq.mrnaCoord_5=1123;refseq.name2_1=CD44;refseq.name2_2=CD44;refseq.name2_3=CD44;refseq.name2_4=CD44;refseq.name2_5=CD44;refseq.name_1=NM_001001392;refseq.name_2=NM_001001391;refseq.name_3=NM_000610;refseq.name_4=NM_001001389;refseq.name_5=NM_001001390;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.I479T;refseq.proteinCoordStr_4=p.I436T;refseq.proteinCoordStr_5=p.I230T;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.spliceDist_5=22;refseq.start_1=35154874;refseq.start_2=35168199;refseq.start_3=35186249;refseq.start_4=35186249;refseq.start_5=35186249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 1/0 chr11 36059804 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=587;Dels=0.00;HRun=0;HaplotypeScore=19.55;MQ=98.76;MQ0=0;OQ=9262.83;QD=15.78;RankSumP=0.325088;SB=-3734.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.219A>G;refseq.codonCoord=73;refseq.end=36059804;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_174902;refseq.name2=LDLRAD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P73P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=26;refseq.start=36059804;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr11 36207434 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.949A>C;refseq.codonCoord=317;refseq.end=36207434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_174902;refseq.name2=LDLRAD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T317P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=149;refseq.start=36207434;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 36379368 . G A 305.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=97.69;MQ0=0;OQ=2564.70;QD=37.72;RankSumP=1.00000;SB=-1270.74;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.121G>A;refseq.codingCoordStr_3=c.121G>A;refseq.codingCoordStr_4=c.121G>A;refseq.codonCoord_2=41;refseq.codonCoord_3=41;refseq.codonCoord_4=41;refseq.end_1=36397370;refseq.end_2=36379368;refseq.end_3=36379368;refseq.end_4=36379368;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=510;refseq.mrnaCoord_3=246;refseq.mrnaCoord_4=496;refseq.name2_1=PRR5L;refseq.name2_2=PRR5L;refseq.name2_3=PRR5L;refseq.name2_4=PRR5L;refseq.name_1=NM_001160168;refseq.name_2=NM_001160167;refseq.name_3=NM_001160169;refseq.name_4=NM_024841;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A41T;refseq.proteinCoordStr_3=p.A41T;refseq.proteinCoordStr_4=p.A41T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.spliceDist_4=-44;refseq.start_1=36354295;refseq.start_2=36379368;refseq.start_3=36379368;refseq.start_4=36379368;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chr11 36440784 . T C 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=1.87;MQ=98.21;MQ0=0;OQ=2909.11;QD=32.32;RankSumP=1.00000;SB=-957.82;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1029T>C;refseq.codingCoordStr_2=c.645T>C;refseq.codingCoordStr_3=c.*284T>C;refseq.codingCoordStr_4=c.1029T>C;refseq.codonCoord_1=343;refseq.codonCoord_2=215;refseq.codonCoord_4=343;refseq.end_1=36440784;refseq.end_2=36440784;refseq.end_3=36440784;refseq.end_4=36440784;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1418;refseq.mrnaCoord_2=817;refseq.mrnaCoord_3=1027;refseq.mrnaCoord_4=1404;refseq.name2_1=PRR5L;refseq.name2_2=PRR5L;refseq.name2_3=PRR5L;refseq.name2_4=PRR5L;refseq.name_1=NM_001160167;refseq.name_2=NM_001160168;refseq.name_3=NM_001160169;refseq.name_4=NM_024841;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T343T;refseq.proteinCoordStr_2=p.T215T;refseq.proteinCoordStr_4=p.T343T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=317;refseq.spliceDist_2=317;refseq.spliceDist_3=317;refseq.spliceDist_4=317;refseq.start_1=36440784;refseq.start_2=36440784;refseq.start_3=36440784;refseq.start_4=36440784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr11 36552176 . A G 189.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.95;MQ0=0;OQ=2436.51;QD=14.25;RankSumP=0.478156;SB=-1099.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.746A>G;refseq.codonCoord=249;refseq.end=36552176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_000448;refseq.name2=RAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H249R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=760;refseq.start=36552176;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr11 43659106 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=97.18;MQ0=0;OQ=167.68;QD=8.83;RankSumP=0.228048;SB=-80.89;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.153A>G;refseq.codonCoord=51;refseq.end=43659106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_016142;refseq.name2=HSD17B12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E51E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=43659106;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr11 43867941 . T C 175.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.88;MQ0=0;OQ=10668.00;QD=37.04;RankSumP=1.00000;SB=-3594.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.357T>C;refseq.codonCoord=119;refseq.end=43867941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_139178;refseq.name2=ALKBH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T119T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-14;refseq.start=43867941;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 43897220 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=999;Dels=0.00;HRun=0;HaplotypeScore=29.76;MQ=98.87;MQ0=0;OQ=15648.01;QD=15.66;RankSumP=0.000414130;SB=-5983.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.726G>T;refseq.codonCoord=242;refseq.end=43897220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_139178;refseq.name2=ALKBH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G242G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-43;refseq.start=43897220;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr11 43897264 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr11;refseq.codingCoordStr=c.768+2;refseq.end=43897264;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_139178;refseq.name2=ALKBH3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=43897264;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr11 44036786 . T C 268.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=98.78;MQ0=0;OQ=4371.89;QD=36.13;RankSumP=1.00000;SB=-1869.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1585T>C;refseq.codonCoord=529;refseq.end=44036786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1641;refseq.name=NM_001031854;refseq.name2=ACCSL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C529R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-40;refseq.start=44036786;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 44045928 . G A 102.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=4057.40;QD=20.60;RankSumP=0.142328;SB=-1709.99;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.175G>A;refseq.codingCoordStr_2=c.175G>A;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=44045928;refseq.end_2=44045928;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=319;refseq.mrnaCoord_2=615;refseq.name2_1=ACCS;refseq.name2_2=ACCS;refseq.name_1=NM_001127219;refseq.name_2=NM_032592;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D59N;refseq.proteinCoordStr_2=p.D59N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.start_1=44045928;refseq.start_2=44045928;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr11 44061557 . C T 215.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1659.28;QD=18.44;RankSumP=0.256145;SB=-485.44;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1262C>T;refseq.codingCoordStr_2=c.1262C>T;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.end_1=44061557;refseq.end_2=44061557;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=1702;refseq.name2_1=ACCS;refseq.name2_2=ACCS;refseq.name_1=NM_001127219;refseq.name_2=NM_032592;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P421L;refseq.proteinCoordStr_2=p.P421L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=44061557;refseq.start_2=44061557;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr11 44243142 . G A 117.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=99.00;MQ0=0;OQ=688.97;QD=13.00;RankSumP=0.731918;SB=-300.83;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1074C>T;refseq.codonCoord=358;refseq.end=44243142;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_021926;refseq.name2=ALX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H358H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=168;refseq.start=44243142;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr11 44253522 . C T 184.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.43;MQ0=0;OQ=2485.48;QD=13.15;RankSumP=0.0904297;SB=-1249.56;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.729G>A;refseq.codonCoord=243;refseq.end=44253522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_021926;refseq.name2=ALX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A243A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-49;refseq.start=44253522;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr11 44253630 . T C 278.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=1.44;MQ=98.51;MQ0=0;OQ=6325.97;QD=36.78;RankSumP=1.00000;SB=-3069.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.621A>G;refseq.codonCoord=207;refseq.end=44253630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_021926;refseq.name2=ALX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S207S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=155;refseq.start=44253630;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr11 44287885 . G A 42.02 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=21.01;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.304C>T;refseq.codonCoord=102;refseq.end=44287885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_021926;refseq.name2=ALX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P102S;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-163;refseq.start=44287885;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT 1/1 chr11 44288085 . C G 158.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.56;MQ0=0;OQ=723.22;QD=15.07;RankSumP=0.470442;SB=-251.22;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.104G>C;refseq.codonCoord=35;refseq.end=44288085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_021926;refseq.name2=ALX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R35T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=208;refseq.start=44288085;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 44596307 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.383T>G;refseq.codingCoordStr_2=c.458T>G;refseq.codonCoord_1=128;refseq.codonCoord_2=153;refseq.end_1=44596307;refseq.end_2=44596307;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=631;refseq.mrnaCoord_2=706;refseq.name2_1=CD82;refseq.name2_2=CD82;refseq.name_1=NM_001024844;refseq.name_2=NM_002231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V128G;refseq.proteinCoordStr_2=p.V153G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=44596307;refseq.start_2=44596307;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr11 44596844 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=99.00;MQ0=0;OQ=247.67;QD=11.26;RankSumP=0.515571;SB=-70.88;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.646A>G;refseq.codingCoordStr_2=c.721A>G;refseq.codonCoord_1=216;refseq.codonCoord_2=241;refseq.end_1=44596844;refseq.end_2=44596844;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=894;refseq.mrnaCoord_2=969;refseq.name2_1=CD82;refseq.name2_2=CD82;refseq.name_1=NM_001024844;refseq.name_2=NM_002231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I216V;refseq.proteinCoordStr_2=p.I241V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=44596844;refseq.start_2=44596844;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 44915455 . C G 38.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.50;RankSumP=0.444444;SB=-40.41;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.213G>C;refseq.codingCoordStr_2=c.213G>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=44915455;refseq.end_2=44915455;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=625;refseq.name2_1=TP53I11;refseq.name2_2=TP53I11;refseq.name_1=NM_001076787;refseq.name_2=NM_006034;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V71V;refseq.proteinCoordStr_2=p.V71V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=44915455;refseq.start_2=44915455;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr11 45628706 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=3;RankSumP=0.00702159;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.344T>G;refseq.codonCoord=115;refseq.end=45628706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_003654;refseq.name2=CHST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V115G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=386;refseq.start=45628706;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 45628837 . A G 188 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.17;MQ0=0;OQ=925.05;QD=15.16;RankSumP=0.620102;SB=-443.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.213T>C;refseq.codonCoord=71;refseq.end=45628837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=884;refseq.name=NM_003654;refseq.name2=CHST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S71S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=255;refseq.start=45628837;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr11 45881529 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.51;MQ0=0;OQ=452.60;QD=12.57;RankSumP=0.364561;SB=-102.53;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1455C>T;refseq.codonCoord=485;refseq.end=45881529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1625;refseq.name=NM_005456;refseq.name2=MAPK8IP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N485N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=38;refseq.start=45881529;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 45891960 . A G 176.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=97.26;MQ0=0;OQ=2397.92;QD=31.97;RankSumP=1.00000;SB=-1046.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.873T>C;refseq.codingCoordStr_2=c.873T>C;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.end_1=45891960;refseq.end_2=45891960;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1185;refseq.mrnaCoord_2=1185;refseq.name2_1=PEX16;refseq.name2_2=PEX16;refseq.name_1=NM_004813;refseq.name_2=NM_057174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y291Y;refseq.proteinCoordStr_2=p.Y291Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=45891960;refseq.start_2=45891960;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr11 45893843 . C T 435.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=99.00;MQ0=0;OQ=5631.05;QD=38.83;RankSumP=1.00000;SB=-2506.61;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.346G>A;refseq.codingCoordStr_2=c.346G>A;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.end_1=45893843;refseq.end_2=45893843;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=658;refseq.mrnaCoord_2=658;refseq.name2_1=PEX16;refseq.name2_2=PEX16;refseq.name_1=NM_004813;refseq.name_2=NM_057174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V116I;refseq.proteinCoordStr_2=p.V116I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=45893843;refseq.start_2=45893843;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr11 45904167 . T G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.0602953;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.771T>G;refseq.codonCoord=257;refseq.end=45904167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_152312;refseq.name2=GYLTL1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G257G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=45904167;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 45906110 . C T 104.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=5.77;MQ=98.53;MQ0=0;OQ=3170.68;QD=34.09;RankSumP=1.00000;SB=-1330.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1668C>T;refseq.codonCoord=556;refseq.end=45906110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1779;refseq.name=NM_152312;refseq.name2=GYLTL1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F556F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=64;refseq.start=45906110;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 45943463 . G T 31.01 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=146;Dels=0.00;HRun=2;HaplotypeScore=7.05;MQ=98.62;MQ0=0;QD=0.21;RankSumP=0.00000;SB=137.48;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.972C>A;refseq.codingCoordStr_2=c.975C>A;refseq.codonCoord_1=324;refseq.codonCoord_2=325;refseq.end_1=45943463;refseq.end_2=45943463;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1596;refseq.mrnaCoord_2=1599;refseq.name2_1=PHF21A;refseq.name2_2=PHF21A;refseq.name_1=NM_001101802;refseq.name_2=NM_016621;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S324R;refseq.proteinCoordStr_2=p.S325R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=45943463;refseq.start_2=45943463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 0/1 chr11 46352546 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1991A>C;refseq.codingCoordStr_2=c.1427A>C;refseq.codingCoordStr_3=c.1475A>C;refseq.codingCoordStr_4=c.1325A>C;refseq.codonCoord_1=664;refseq.codonCoord_2=476;refseq.codonCoord_3=492;refseq.codonCoord_4=442;refseq.end_1=46352546;refseq.end_2=46352546;refseq.end_3=46352546;refseq.end_4=46352546;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2116;refseq.mrnaCoord_2=1681;refseq.mrnaCoord_3=1562;refseq.mrnaCoord_4=1415;refseq.name2_1=DGKZ;refseq.name2_2=DGKZ;refseq.name2_3=DGKZ;refseq.name2_4=DGKZ;refseq.name_1=NM_001105540;refseq.name_2=NM_003646;refseq.name_3=NM_201532;refseq.name_4=NM_201533;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N664T;refseq.proteinCoordStr_2=p.N476T;refseq.proteinCoordStr_3=p.N492T;refseq.proteinCoordStr_4=p.N442T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.start_1=46352546;refseq.start_2=46352546;refseq.start_3=46352546;refseq.start_4=46352546;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 0/1 chr11 46581844 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.862T>C;refseq.codonCoord=288;refseq.end=46581844;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_173811;refseq.name2=HARBI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S288P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=192;refseq.start=46581844;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 46659496 . T C 257.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=9.85;MQ=98.84;MQ0=0;OQ=21131.54;QD=41.68;RankSumP=1.00000;SB=-6936.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.459A>G;refseq.codonCoord=153;refseq.end=46659496;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_004308;refseq.name2=ARHGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K153K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=46659496;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 46704754 . T G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.0120086;SecondBestBaseQ=16;refseq.chr=chr11;refseq.codingCoordStr=c.1003+2;refseq.end=46704754;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_000506;refseq.name2=F2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=46704754;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr11 46717471 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1806C>T;refseq.codonCoord=602;refseq.end=46717471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1849;refseq.name=NM_000506;refseq.name2=F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F602F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=81;refseq.start=46717471;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr11 46756355 . A C 13.54 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=397;Dels=0.00;HRun=2;HaplotypeScore=10.74;MQ=98.66;MQ0=0;QD=0.03;RankSumP=0.00000;SB=369.17;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2658T>G;refseq.codingCoordStr_2=c.2658T>G;refseq.codonCoord_1=886;refseq.codonCoord_2=886;refseq.end_1=46756355;refseq.end_2=46756355;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2768;refseq.mrnaCoord_2=2768;refseq.name2_1=CKAP5;refseq.name2_2=CKAP5;refseq.name_1=NM_001008938;refseq.name_2=NM_014756;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G886G;refseq.proteinCoordStr_2=p.G886G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=46756355;refseq.start_2=46756355;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 46762647 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1064;Dels=0.00;HRun=0;HaplotypeScore=26.39;MQ=98.79;MQ0=0;OQ=21883.64;QD=20.57;RankSumP=0.00163659;SB=-7895.69;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2121C>T;refseq.codingCoordStr_2=c.2121C>T;refseq.codonCoord_1=707;refseq.codonCoord_2=707;refseq.end_1=46762647;refseq.end_2=46762647;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2231;refseq.mrnaCoord_2=2231;refseq.name2_1=CKAP5;refseq.name2_2=CKAP5;refseq.name_1=NM_001008938;refseq.name_2=NM_014756;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A707A;refseq.proteinCoordStr_2=p.A707A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=46762647;refseq.start_2=46762647;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/0 chr11 46794409 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.374T>G;refseq.codingCoordStr_2=c.374T>G;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.end_1=46794409;refseq.end_2=46794409;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=484;refseq.name2_1=CKAP5;refseq.name2_2=CKAP5;refseq.name_1=NM_001008938;refseq.name_2=NM_014756;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V125G;refseq.proteinCoordStr_2=p.V125G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.start_1=46794409;refseq.start_2=46794409;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr11 46846741 . C T 412.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.63;MQ0=0;OQ=4300.34;QD=37.39;RankSumP=1.00000;SB=-1014.38;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4937G>A;refseq.codonCoord=1646;refseq.end=46846741;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5083;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1646Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-15;refseq.start=46846741;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr11 46849684 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=8.88;MQ=98.64;MQ0=0;OQ=3762.81;QD=26.50;RankSumP=1.00000;SB=-301.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4660A>G;refseq.codonCoord=1554;refseq.end=46849684;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4806;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1554G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-33;refseq.start=46849684;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 46849692 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4652T>G;refseq.codonCoord=1551;refseq.end=46849692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4798;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1551G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-41;refseq.start=46849692;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 46853199 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=6.64935e-08;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3957C>G;refseq.codonCoord=1319;refseq.end=46853199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4103;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=32;refseq.start=46853199;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 46853593 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=1.88123e-07;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3915A>C;refseq.codonCoord=1305;refseq.end=46853593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4061;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1305A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-11;refseq.start=46853593;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 46855347 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=18.15;MQ=98.95;MQ0=0;OQ=16107.99;QD=37.46;RankSumP=1.00000;SB=-7270.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3256A>G;refseq.codonCoord=1086;refseq.end=46855347;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3402;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1086V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-22;refseq.start=46855347;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 46871159 . T C 232.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.47;MQ0=0;OQ=3433.70;QD=38.58;RankSumP=1.00000;SB=-1599.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1638A>G;refseq.codonCoord=546;refseq.end=46871159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1784;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K546K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-60;refseq.start=46871159;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 46871174 . A G 172.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.42;MQ0=0;OQ=2603.49;QD=32.14;RankSumP=1.00000;SB=-1074.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1623T>C;refseq.codonCoord=541;refseq.end=46871174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D541D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-75;refseq.start=46871174;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 46872755 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=743.32;QD=12.60;RankSumP=0.573958;SB=-42.56;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1501A>C;refseq.codonCoord=501;refseq.end=46872755;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1647;refseq.name=NM_002334;refseq.name2=LRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N501H;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-40;refseq.start=46872755;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 47144890 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=11.15;MQ=98.64;MQ0=0;OQ=10833.06;QD=34.72;RankSumP=1.00000;SB=-5047.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1329A>G;refseq.codonCoord=443;refseq.end=47144890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_032389;refseq.name2=ARFGAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A443A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=47144890;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 47195098 . T C 283.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=98.50;MQ0=0;OQ=7159.77;QD=35.98;RankSumP=1.00000;SB=-2578.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.378T>C;refseq.codonCoord=126;refseq.end=47195098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_000107;refseq.name2=DDB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T126T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-79;refseq.start=47195098;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 47254936 . G A 282.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=6.94;MQ=98.44;MQ0=0;OQ=10539.75;QD=40.54;RankSumP=1.00000;SB=-2755.07;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr11;refseq.chr_10=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.chr_8=chr11;refseq.chr_9=chr11;refseq.codingCoordStr_1=c.1041G>A;refseq.codingCoordStr_10=c.1041G>A;refseq.codingCoordStr_2=c.1041G>A;refseq.codingCoordStr_3=c.1041G>A;refseq.codingCoordStr_4=c.1041G>A;refseq.codingCoordStr_5=c.1041G>A;refseq.codingCoordStr_6=c.1041G>A;refseq.codingCoordStr_7=c.1041G>A;refseq.codingCoordStr_8=c.1041G>A;refseq.codingCoordStr_9=c.1041G>A;refseq.codonCoord_1=347;refseq.codonCoord_10=347;refseq.codonCoord_2=347;refseq.codonCoord_3=347;refseq.codonCoord_4=347;refseq.codonCoord_5=347;refseq.codonCoord_6=347;refseq.codonCoord_7=347;refseq.codonCoord_8=347;refseq.codonCoord_9=347;refseq.end_1=47254936;refseq.end_10=47254936;refseq.end_2=47254936;refseq.end_3=47254936;refseq.end_4=47254936;refseq.end_5=47254936;refseq.end_6=47254936;refseq.end_7=47254936;refseq.end_8=47254936;refseq.end_9=47254936;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_10=1256;refseq.mrnaCoord_2=1232;refseq.mrnaCoord_3=1232;refseq.mrnaCoord_4=1398;refseq.mrnaCoord_5=1232;refseq.mrnaCoord_6=1232;refseq.mrnaCoord_7=1232;refseq.mrnaCoord_8=1232;refseq.mrnaCoord_9=1256;refseq.name2_1=MADD;refseq.name2_10=MADD;refseq.name2_2=MADD;refseq.name2_3=MADD;refseq.name2_4=MADD;refseq.name2_5=MADD;refseq.name2_6=MADD;refseq.name2_7=MADD;refseq.name2_8=MADD;refseq.name2_9=MADD;refseq.name_1=NM_001135943;refseq.name_10=NM_130476;refseq.name_2=NM_001135944;refseq.name_3=NM_003682;refseq.name_4=NM_130470;refseq.name_5=NM_130471;refseq.name_6=NM_130472;refseq.name_7=NM_130473;refseq.name_8=NM_130474;refseq.name_9=NM_130475;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.E347E;refseq.proteinCoordStr_10=p.E347E;refseq.proteinCoordStr_2=p.E347E;refseq.proteinCoordStr_3=p.E347E;refseq.proteinCoordStr_4=p.E347E;refseq.proteinCoordStr_5=p.E347E;refseq.proteinCoordStr_6=p.E347E;refseq.proteinCoordStr_7=p.E347E;refseq.proteinCoordStr_8=p.E347E;refseq.proteinCoordStr_9=p.E347E;refseq.referenceAA_1=Glu;refseq.referenceAA_10=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceAA_8=Glu;refseq.referenceAA_9=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_10=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.referenceCodon_7=GAG;refseq.referenceCodon_8=GAG;refseq.referenceCodon_9=GAG;refseq.spliceDist_1=-55;refseq.spliceDist_10=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.spliceDist_5=-55;refseq.spliceDist_6=-55;refseq.spliceDist_7=-55;refseq.spliceDist_8=-55;refseq.spliceDist_9=-55;refseq.start_1=47254936;refseq.start_10=47254936;refseq.start_2=47254936;refseq.start_3=47254936;refseq.start_4=47254936;refseq.start_5=47254936;refseq.start_6=47254936;refseq.start_7=47254936;refseq.start_8=47254936;refseq.start_9=47254936;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Glu;refseq.variantAA_10=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_5=Glu;refseq.variantAA_6=Glu;refseq.variantAA_7=Glu;refseq.variantAA_8=Glu;refseq.variantAA_9=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_10=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;refseq.variantCodon_5=GAA;refseq.variantCodon_6=GAA;refseq.variantCodon_7=GAA;refseq.variantCodon_8=GAA;refseq.variantCodon_9=GAA;set=Intersection GT 1/1 chr11 47259851 . T C 399.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=5414.61;QD=37.86;RankSumP=1.00000;SB=-2377.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr11;refseq.chr_10=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.chr_8=chr11;refseq.chr_9=chr11;refseq.codingCoordStr_1=c.1440T>C;refseq.codingCoordStr_10=c.1440T>C;refseq.codingCoordStr_2=c.1440T>C;refseq.codingCoordStr_3=c.1440T>C;refseq.codingCoordStr_4=c.1440T>C;refseq.codingCoordStr_5=c.1440T>C;refseq.codingCoordStr_6=c.1440T>C;refseq.codingCoordStr_7=c.1440T>C;refseq.codingCoordStr_8=c.1440T>C;refseq.codingCoordStr_9=c.1440T>C;refseq.codonCoord_1=480;refseq.codonCoord_10=480;refseq.codonCoord_2=480;refseq.codonCoord_3=480;refseq.codonCoord_4=480;refseq.codonCoord_5=480;refseq.codonCoord_6=480;refseq.codonCoord_7=480;refseq.codonCoord_8=480;refseq.codonCoord_9=480;refseq.end_1=47259851;refseq.end_10=47259851;refseq.end_2=47259851;refseq.end_3=47259851;refseq.end_4=47259851;refseq.end_5=47259851;refseq.end_6=47259851;refseq.end_7=47259851;refseq.end_8=47259851;refseq.end_9=47259851;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1655;refseq.mrnaCoord_10=1655;refseq.mrnaCoord_2=1631;refseq.mrnaCoord_3=1631;refseq.mrnaCoord_4=1797;refseq.mrnaCoord_5=1631;refseq.mrnaCoord_6=1631;refseq.mrnaCoord_7=1631;refseq.mrnaCoord_8=1631;refseq.mrnaCoord_9=1655;refseq.name2_1=MADD;refseq.name2_10=MADD;refseq.name2_2=MADD;refseq.name2_3=MADD;refseq.name2_4=MADD;refseq.name2_5=MADD;refseq.name2_6=MADD;refseq.name2_7=MADD;refseq.name2_8=MADD;refseq.name2_9=MADD;refseq.name_1=NM_001135943;refseq.name_10=NM_130476;refseq.name_2=NM_001135944;refseq.name_3=NM_003682;refseq.name_4=NM_130470;refseq.name_5=NM_130471;refseq.name_6=NM_130472;refseq.name_7=NM_130473;refseq.name_8=NM_130474;refseq.name_9=NM_130475;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.N480N;refseq.proteinCoordStr_10=p.N480N;refseq.proteinCoordStr_2=p.N480N;refseq.proteinCoordStr_3=p.N480N;refseq.proteinCoordStr_4=p.N480N;refseq.proteinCoordStr_5=p.N480N;refseq.proteinCoordStr_6=p.N480N;refseq.proteinCoordStr_7=p.N480N;refseq.proteinCoordStr_8=p.N480N;refseq.proteinCoordStr_9=p.N480N;refseq.referenceAA_1=Asn;refseq.referenceAA_10=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceAA_7=Asn;refseq.referenceAA_8=Asn;refseq.referenceAA_9=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_10=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.referenceCodon_7=AAT;refseq.referenceCodon_8=AAT;refseq.referenceCodon_9=AAT;refseq.spliceDist_1=-30;refseq.spliceDist_10=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.spliceDist_4=-30;refseq.spliceDist_5=-30;refseq.spliceDist_6=-30;refseq.spliceDist_7=-30;refseq.spliceDist_8=-30;refseq.spliceDist_9=-30;refseq.start_1=47259851;refseq.start_10=47259851;refseq.start_2=47259851;refseq.start_3=47259851;refseq.start_4=47259851;refseq.start_5=47259851;refseq.start_6=47259851;refseq.start_7=47259851;refseq.start_8=47259851;refseq.start_9=47259851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Asn;refseq.variantAA_10=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantAA_9=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_10=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;refseq.variantCodon_7=AAC;refseq.variantCodon_8=AAC;refseq.variantCodon_9=AAC;set=Intersection GT 1/1 chr11 47287692 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=675;Dels=0.00;HRun=0;HaplotypeScore=17.33;MQ=98.71;MQ0=0;OQ=27906.29;QD=41.34;RankSumP=1.00000;SB=-12762.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr11;refseq.chr_10=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.chr_8=chr11;refseq.chr_9=chr11;refseq.codingCoordStr_1=c.3802T>C;refseq.codingCoordStr_10=c.3931T>C;refseq.codingCoordStr_2=c.3793T>C;refseq.codingCoordStr_3=c.4111T>C;refseq.codingCoordStr_4=c.3934T>C;refseq.codingCoordStr_5=c.3865T>C;refseq.codingCoordStr_6=c.3805T>C;refseq.codingCoordStr_7=c.3994T>C;refseq.codingCoordStr_8=c.3805T>C;refseq.codingCoordStr_9=c.4111T>C;refseq.codonCoord_1=1268;refseq.codonCoord_10=1311;refseq.codonCoord_2=1265;refseq.codonCoord_3=1371;refseq.codonCoord_4=1312;refseq.codonCoord_5=1289;refseq.codonCoord_6=1269;refseq.codonCoord_7=1332;refseq.codonCoord_8=1269;refseq.codonCoord_9=1371;refseq.end_1=47287692;refseq.end_10=47287692;refseq.end_2=47287692;refseq.end_3=47287692;refseq.end_4=47287692;refseq.end_5=47287692;refseq.end_6=47287692;refseq.end_7=47287692;refseq.end_8=47287692;refseq.end_9=47287692;refseq.frame_1=0;refseq.frame_10=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=4017;refseq.mrnaCoord_10=4146;refseq.mrnaCoord_2=3984;refseq.mrnaCoord_3=4302;refseq.mrnaCoord_4=4291;refseq.mrnaCoord_5=4056;refseq.mrnaCoord_6=3996;refseq.mrnaCoord_7=4185;refseq.mrnaCoord_8=3996;refseq.mrnaCoord_9=4326;refseq.name2_1=MADD;refseq.name2_10=MADD;refseq.name2_2=MADD;refseq.name2_3=MADD;refseq.name2_4=MADD;refseq.name2_5=MADD;refseq.name2_6=MADD;refseq.name2_7=MADD;refseq.name2_8=MADD;refseq.name2_9=MADD;refseq.name_1=NM_001135943;refseq.name_10=NM_130476;refseq.name_2=NM_001135944;refseq.name_3=NM_003682;refseq.name_4=NM_130470;refseq.name_5=NM_130471;refseq.name_6=NM_130472;refseq.name_7=NM_130473;refseq.name_8=NM_130474;refseq.name_9=NM_130475;refseq.numMatchingRecords=10;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.L1268L;refseq.proteinCoordStr_10=p.L1311L;refseq.proteinCoordStr_2=p.L1265L;refseq.proteinCoordStr_3=p.L1371L;refseq.proteinCoordStr_4=p.L1312L;refseq.proteinCoordStr_5=p.L1289L;refseq.proteinCoordStr_6=p.L1269L;refseq.proteinCoordStr_7=p.L1332L;refseq.proteinCoordStr_8=p.L1269L;refseq.proteinCoordStr_9=p.L1371L;refseq.referenceAA_1=Leu;refseq.referenceAA_10=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceAA_9=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_10=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_6=TTG;refseq.referenceCodon_7=TTG;refseq.referenceCodon_8=TTG;refseq.referenceCodon_9=TTG;refseq.spliceDist_1=-48;refseq.spliceDist_10=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.spliceDist_5=-48;refseq.spliceDist_6=-48;refseq.spliceDist_7=-48;refseq.spliceDist_8=-48;refseq.spliceDist_9=-48;refseq.start_1=47287692;refseq.start_10=47287692;refseq.start_2=47287692;refseq.start_3=47287692;refseq.start_4=47287692;refseq.start_5=47287692;refseq.start_6=47287692;refseq.start_7=47287692;refseq.start_8=47287692;refseq.start_9=47287692;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Leu;refseq.variantAA_10=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantAA_8=Leu;refseq.variantAA_9=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_10=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;refseq.variantCodon_7=CTG;refseq.variantCodon_8=CTG;refseq.variantCodon_9=CTG;set=Intersection GT 1/1 chr11 47388304 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=5.40;MQ=98.06;MQ0=0;OQ=3016.68;QD=30.17;RankSumP=1.00000;SB=-241.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.83A>G;refseq.codingCoordStr_2=c.83A>G;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=47388304;refseq.end_2=47388304;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=259;refseq.mrnaCoord_2=280;refseq.name2_1=SLC39A13;refseq.name2_2=SLC39A13;refseq.name_1=NM_001128225;refseq.name_2=NM_152264;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E28G;refseq.proteinCoordStr_2=p.E28G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=91;refseq.spliceDist_2=112;refseq.start_1=47388304;refseq.start_2=47388304;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr11 47403280 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.253A>C;refseq.codonCoord=85;refseq.end=47403280;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=447;refseq.name=NM_002804;refseq.name2=PSMC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T85P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-33;refseq.start=47403280;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 47416882 . A G 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.91;MQ0=0;OQ=802.15;QD=34.88;RankSumP=1.00000;SB=-337.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1143T>C;refseq.codingCoordStr_2=c.966T>C;refseq.codonCoord_1=381;refseq.codonCoord_2=322;refseq.end_1=47416882;refseq.end_2=47416882;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1180;refseq.name2_1=RAPSN;refseq.name2_2=RAPSN;refseq.name_1=NM_005055;refseq.name_2=NM_032645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P381P;refseq.proteinCoordStr_2=p.P322P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=47416882;refseq.start_2=47416882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr11 47426015 . A G 382.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.23;MQ0=0;OQ=2952.62;QD=35.57;RankSumP=1.00000;SB=-1442.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.456T>C;refseq.codingCoordStr_2=c.456T>C;refseq.codonCoord_1=152;refseq.codonCoord_2=152;refseq.end_1=47426015;refseq.end_2=47426015;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=670;refseq.mrnaCoord_2=670;refseq.name2_1=RAPSN;refseq.name2_2=RAPSN;refseq.name_1=NM_005055;refseq.name_2=NM_032645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y152Y;refseq.proteinCoordStr_2=p.Y152Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=47426015;refseq.start_2=47426015;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr11 47426931 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=99.00;MQ0=0;OQ=855.02;QD=21.38;RankSumP=0.505626;SB=-159.60;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.162G>A;refseq.codingCoordStr_2=c.162G>A;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=47426931;refseq.end_2=47426931;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=376;refseq.mrnaCoord_2=376;refseq.name2_1=RAPSN;refseq.name2_2=RAPSN;refseq.name_1=NM_005055;refseq.name_2=NM_032645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S54S;refseq.proteinCoordStr_2=p.S54S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=47426931;refseq.start_2=47426931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr11 47555943 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.185T>G;refseq.codingCoordStr_3=c.233T>G;refseq.codonCoord_2=62;refseq.codonCoord_3=78;refseq.end_1=47555943;refseq.end_2=47555943;refseq.end_3=47555943;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=293;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=297;refseq.name2_1=KBTBD4;refseq.name2_2=KBTBD4;refseq.name2_3=KBTBD4;refseq.name_1=NR_024222;refseq.name_2=NM_016506;refseq.name_3=NM_018095;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V62G;refseq.proteinCoordStr_3=p.V78G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=210;refseq.spliceDist_2=214;refseq.spliceDist_3=214;refseq.start_1=47555943;refseq.start_2=47555943;refseq.start_3=47555943;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr11 47597005 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=15.99;MQ=98.80;MQ0=0;OQ=16737.75;QD=45.98;RankSumP=1.00000;SB=-6907.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.868C>G;refseq.codonCoord=290;refseq.end=47597005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_014342;refseq.name2=MTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P290A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=43;refseq.start=47597005;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 47607128 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.586T>G;refseq.codonCoord=196;refseq.end=47607128;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_014342;refseq.name2=MTCH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C196G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=47;refseq.start=47607128;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr11 47658104 . C A 173.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.66;MQ0=0;OQ=2109.21;QD=37.66;RankSumP=1.00000;SB=-650.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2013G>T;refseq.codonCoord=671;refseq.end=47658104;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2113;refseq.name=NM_024783;refseq.name2=AGBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M671I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=47658104;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr11 47668775 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1060A>G;refseq.codonCoord=354;refseq.end=47668775;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_024783;refseq.name2=AGBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R354G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=212;refseq.start=47668775;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 47791168 . G A 346 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.94;MQ0=0;OQ=2326.88;QD=40.82;RankSumP=1.00000;SB=-428.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1794C>T;refseq.codonCoord=598;refseq.end=47791168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1879;refseq.name=NM_015231;refseq.name2=NUP160;refseq.positionType=CDS;refseq.proteinCoordStr=p.D598D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=47791168;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr11 47813841 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1039G>T;refseq.codonCoord=347;refseq.end=47813841;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_015231;refseq.name2=NUP160;refseq.positionType=CDS;refseq.proteinCoordStr=p.A347S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-63;refseq.start=47813841;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/0 chr11 48101823 . T C 220.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=98.67;MQ0=0;OQ=8173.63;QD=35.08;RankSumP=1.00000;SB=-3755.61;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.699T>C;refseq.codingCoordStr_2=c.699T>C;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.end_1=48101823;refseq.end_2=48101823;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1054;refseq.mrnaCoord_2=1054;refseq.name2_1=PTPRJ;refseq.name2_2=PTPRJ;refseq.name_1=NM_001098503;refseq.name_2=NM_002843;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T233T;refseq.proteinCoordStr_2=p.T233T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=48101823;refseq.start_2=48101823;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr11 48122843 . G C 221.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.71;MQ0=0;OQ=13382.56;QD=45.52;RankSumP=1.00000;SB=-5169.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2616G>C;refseq.codonCoord=872;refseq.end=48122843;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2971;refseq.name=NM_002843;refseq.name2=PTPRJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.E872D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=41;refseq.start=48122843;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 48194997 . T G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=570;Dels=0.00;HRun=1;HaplotypeScore=4.33;MQ=98.71;MQ0=0;OQ=20622.40;QD=36.18;RankSumP=1.00000;SB=-9171.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.60T>G;refseq.codonCoord=20;refseq.end=48194997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=60;refseq.name=NM_001005470;refseq.name2=OR4B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A20A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=60;refseq.start=48194997;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 48242418 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=2;HaplotypeScore=2.78;MQ=97.95;MQ0=0;OQ=12558.42;QD=40.64;RankSumP=1.00000;SB=-4812.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.430A>G;refseq.codonCoord=144;refseq.end=48242418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R144G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=430;refseq.start=48242418;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr11 48242432 . C T 193.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=97.70;MQ0=0;OQ=11653.98;QD=40.33;RankSumP=1.00000;SB=-4105.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.444C>T;refseq.codonCoord=148;refseq.end=48242432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G148G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=444;refseq.start=48242432;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr11 48242559 . T A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.420944;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.571T>A;refseq.codonCoord=191;refseq.end=48242559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F191I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-348;refseq.start=48242559;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr11 48242560 . T C 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.589371;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.572T>C;refseq.codonCoord=191;refseq.end=48242560;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F191S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-347;refseq.start=48242560;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr11 48242562 . T A 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.630199;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.574T>A;refseq.codonCoord=192;refseq.end=48242562;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F192I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-345;refseq.start=48242562;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr11 48242564 . C T 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.727034;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.576C>T;refseq.codonCoord=192;refseq.end=48242564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=576;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F192F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-343;refseq.start=48242564;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 0/1 chr11 48242807 . T A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=477;Dels=0.00;HRun=1;HaplotypeScore=18.76;MQ=98.89;MQ0=0;OQ=18846.83;QD=39.51;RankSumP=1.00000;SB=-5542.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.819T>A;refseq.codonCoord=273;refseq.end=48242807;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=819;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y273*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-100;refseq.start=48242807;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 1/1 chr11 48242810 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=1;HaplotypeScore=19.81;MQ=98.89;MQ0=0;OQ=8425.84;QD=18.56;RankSumP=0.482765;SB=-1765.46;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.822A>G;refseq.codonCoord=274;refseq.end=48242810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T274T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-97;refseq.start=48242810;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr11 48242832 . C T 394.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=98.85;MQ0=0;OQ=12084.47;QD=42.40;RankSumP=1.00000;SB=-2333.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.844C>T;refseq.codonCoord=282;refseq.end=48242832;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_001004726;refseq.name2=OR4X1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P282S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-75;refseq.start=48242832;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 48303257 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.45;MQ0=0;OQ=404.58;QD=1.66;SB=-80.26;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.189G>A;refseq.codonCoord=63;refseq.end=48303257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T63T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=189;refseq.start=48303257;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:214,28:235:-114.51,-70.77,-820.02:99 chr11 48303305 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=183;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=97.18;MQ0=0;OQ=2116.14;QD=11.56;RankSumP=9.43014e-06;SB=-719.62;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.237G>C;refseq.codonCoord=79;refseq.end=48303305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T79T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=237;refseq.start=48303305;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr11 48303367 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=479;Dels=0.00;HRun=2;HaplotypeScore=3.11;MQ=97.26;MQ0=0;OQ=7086.46;QD=14.79;RankSumP=0.213925;SB=-851.30;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.299C>T;refseq.codonCoord=100;refseq.end=48303367;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S100F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=299;refseq.start=48303367;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 48303398 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=980;Dels=0.00;HRun=1;HaplotypeScore=13.29;MQ=96.74;MQ0=0;OQ=15631.35;QD=15.95;RankSumP=0.0515717;SB=-3117.14;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.330A>C;refseq.codonCoord=110;refseq.end=48303398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S110S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=330;refseq.start=48303398;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr11 48303419 . C T 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=1228;Dels=0.00;HRun=1;HaplotypeScore=12.29;MQ=96.68;MQ0=0;OQ=21592.07;QD=17.58;RankSumP=0.421958;SB=-6445.83;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=48303419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I117I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=351;refseq.start=48303419;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr11 48303492 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=979;Dels=0.00;HRun=0;HaplotypeScore=17.85;MQ=95.88;MQ0=0;OQ=19301.92;QD=19.72;RankSumP=0.478465;SB=-4360.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.424G>C;refseq.codonCoord=142;refseq.end=48303492;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V142L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=424;refseq.start=48303492;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 48303500 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=862;Dels=0.00;HRun=1;HaplotypeScore=9.32;MQ=95.31;MQ0=0;OQ=13765.58;QD=15.97;RankSumP=0.337863;SB=-2354.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.432T>C;refseq.codonCoord=144;refseq.end=48303500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A144A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=432;refseq.start=48303500;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr11 48303508 . G A 5.79 PASS AC=1;AF=0.50;AN=2;DP=784;Dels=0.00;HRun=0;HaplotypeScore=20.77;MQ=94.84;MQ0=0;OQ=11485.78;QD=14.65;SB=-1898.69;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.440G>A;refseq.codonCoord=147;refseq.end=48303508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R147H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=440;refseq.start=48303508;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:493,291:762:-1147.58,-229.48,-1890.86:99 chr11 48303537 . A T 7.01 PASS AC=1;AF=0.50;AN=2;DP=525;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=93.92;MQ0=0;OQ=6803.44;QD=12.96;SB=-157.83;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.469A>T;refseq.codonCoord=157;refseq.end=48303537;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=469;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N157Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=469;refseq.start=48303537;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=gatk GT:AD:DP:GL:GQ 0/1:357,166:514:-679.34,-154.77,-1406.78:99 chr11 48303538 . A G 5.02 PASS AC=1;AF=0.50;AN=2;DP=518;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=93.95;MQ0=0;OQ=6388.01;QD=12.33;SB=-203.26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.470A>G;refseq.codonCoord=157;refseq.end=48303538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N157S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=470;refseq.start=48303538;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=gatk GT:AD:DP:GL:GQ 0/1:355,163:508:-637.80,-152.98,-1478.09:99 chr11 48303572 rs12794960 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=55.87;MQ=95.00;MQ0=0;OQ=939.55;QD=2.90;SB=-103.52;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.504G>A;refseq.codonCoord=168;refseq.end=48303572;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M168I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-487;refseq.start=48303572;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:273,50:315:-192.08,-94.84,-1106.13:99 chr11 48303575 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=310;Dels=0.00;HRun=1;HaplotypeScore=52.67;MQ=95.25;MQ0=0;OQ=2952.73;QD=9.52;SB=-462.15;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.507T>G;refseq.codonCoord=169;refseq.end=48303575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L169L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-484;refseq.start=48303575;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:212,96:303:-397.51,-98.95,-812.65:99 chr11 48303590 . G A 0.13 PASS AC=1;AF=0.50;AN=2;DP=226;Dels=0.00;HRun=0;HaplotypeScore=1.55;MQ=95.58;MQ0=0;OQ=1782.06;QD=7.89;SB=-417.39;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.522G>A;refseq.codonCoord=174;refseq.end=48303590;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W174*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-469;refseq.start=48303590;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=gatk GT:AD:DP:GL:GQ 0/1:161,65:221:-248.04,-66.55,-648.50:99 chr11 48303599 . C T 0.07 PASS AC=1;AF=0.50;AN=2;DP=209;Dels=0.00;HRun=2;HaplotypeScore=2.07;MQ=96.13;MQ0=0;OQ=1776.47;QD=8.50;SB=-434.32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.531C>T;refseq.codonCoord=177;refseq.end=48303599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G177G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-460;refseq.start=48303599;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=gatk GT:AD:DP:GL:GQ 0/1:147,61:200:-241.16,-60.23,-591.43:99 chr11 48303643 . C T 1.93 PASS AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.26;MQ0=0;OQ=1673.93;QD=11.16;SB=-460.27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.575C>T;refseq.codonCoord=192;refseq.end=48303643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P192L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-416;refseq.start=48303643;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:100,50:143:-213.74,-43.06,-389.37:99 chr11 48303676 . C T 0.20 PASS AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=97.42;MQ0=0;OQ=979.61;QD=7.65;SB=-351.12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.608C>T;refseq.codonCoord=203;refseq.end=48303676;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A203V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-383;refseq.start=48303676;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=gatk GT:AD:DP:GL:GQ 0/1:95,33:127:-139.49,-38.24,-390.85:99 chr11 48303700 . A G 10.92 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=97.44;MQ0=0;QD=0.11;SB=-22.49;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.632A>G;refseq.codonCoord=211;refseq.end=48303700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E211G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-359;refseq.start=48303700;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:83,15:91:-31.75,-27.41,-355.74:43.39 chr11 48303706 . C G 30.48 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=97.54;MQ0=0;QD=0.33;SB=-16.52;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.638C>G;refseq.codonCoord=213;refseq.end=48303706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A213G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-353;refseq.start=48303706;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:76,15:82:-31.03,-24.70,-374.23:63.31 chr11 48303843 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=261;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=97.42;MQ0=0;OQ=1253.21;QD=4.80;RankSumP=0.113955;SB=-266.07;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.775T>C;refseq.codonCoord=259;refseq.end=48303843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C259R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-216;refseq.start=48303843;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/0 chr11 48303882 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=492;Dels=0.00;HRun=2;HaplotypeScore=8.55;MQ=97.37;MQ0=0;OQ=1457.23;QD=2.96;RankSumP=0.197402;SB=-753.75;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.814G>T;refseq.codonCoord=272;refseq.end=48303882;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V272F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-177;refseq.start=48303882;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 48303918 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=600;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=97.70;MQ0=0;OQ=364.69;QD=0.61;SB=-31.19;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=48303918;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V284M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-141;refseq.start=48303918;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:539,61:589:-217.13,-177.37,-2237.32:99 chr11 48303922 . A T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=591;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=97.70;MQ0=0;OQ=528.23;QD=0.89;SB=27.27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.854A>T;refseq.codonCoord=285;refseq.end=48303922;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H285L;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-137;refseq.start=48303922;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:533,58:586:-232.57,-176.46,-2137.08:99 chr11 48303934 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=553;Dels=0.00;HRun=3;HaplotypeScore=10.25;MQ=97.70;MQ0=0;OQ=303.47;QD=0.55;SB=144.48;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.866C>T;refseq.codonCoord=289;refseq.end=48303934;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T289I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-125;refseq.start=48303934;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:508,45:548:-198.63,-165.00,-2135.36:99 chr11 48303939 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=537;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=97.69;MQ0=0;OQ=264.53;QD=0.49;SB=99.80;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.871C>T;refseq.codonCoord=291;refseq.end=48303939;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P291S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-120;refseq.start=48303939;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:492,44:531:-193.60,-163.87,-2068.90:99 chr11 48303968 . T C 41.76 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=371;Dels=0.00;HRun=0;HaplotypeScore=17.73;MQ=98.05;MQ0=0;QD=0.11;SB=-9.40;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.900T>C;refseq.codonCoord=300;refseq.end=48303968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y300Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-91;refseq.start=48303968;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:339,32:364:-117.08,-109.62,-1435.24:74.60 chr11 48303995 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=205;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.43;MQ0=0;OQ=185.17;QD=0.90;SB=-103.57;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.927A>G;refseq.codonCoord=309;refseq.end=48303995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=927;refseq.name=NM_001004702;refseq.name2=OR4C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P309P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-64;refseq.start=48303995;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:183,22:203:-82.95,-61.15,-739.03:99 chr11 48466920 . C G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.444444;SecondBestBaseQ=34;set=FilteredInAll GT 1/0 chr11 48467093 . A C 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.110578;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.173A>C;refseq.codonCoord=58;refseq.end=48467093;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y58S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=173;refseq.start=48467093;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr11 48467113 . T A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.457362;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.193T>A;refseq.codonCoord=65;refseq.end=48467113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.S65T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=193;refseq.start=48467113;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/0 chr11 48467230 . A C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=520;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=27.27;MQ0=57;OQ=16065.17;QD=30.89;RankSumP=1.00000;SB=-6623.41;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.310A>C;refseq.codonCoord=104;refseq.end=48467230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.I104L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=310;refseq.start=48467230;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr11 48467353 . G A 212.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=37.25;MQ0=7;OQ=10877.37;QD=41.68;RankSumP=1.00000;SB=-3701.34;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.433G>A;refseq.codonCoord=145;refseq.end=48467353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.V145M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=433;refseq.start=48467353;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr11 48467751 . C T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.272054;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.831C>T;refseq.codonCoord=277;refseq.end=48467751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.T277T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-100;refseq.start=48467751;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr11 48467766 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.440085;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.846C>T;refseq.codonCoord=282;refseq.end=48467766;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_001005512;refseq.name2=OR4A47;refseq.positionType=CDS;refseq.proteinCoordStr=p.P282P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-85;refseq.start=48467766;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 0/1 chr11 49126778 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.138283;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.2052G>A;refseq.codonCoord_2=684;refseq.end_1=49131963;refseq.end_2=49126778;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2313;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R684R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=-12;refseq.start_1=49125084;refseq.start_2=49126778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=FilteredInAll GT 0/1 chr11 49126850 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.301569;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1980A>G;refseq.codonCoord_2=660;refseq.end_1=49131963;refseq.end_2=49126850;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2241;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V660V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=49125084;refseq.start_2=49126850;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr11 49132003 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.341224;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1941T>C;refseq.codingCoordStr_2=c.1941T>C;refseq.codonCoord_1=647;refseq.codonCoord_2=647;refseq.end_1=49132003;refseq.end_2=49132003;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2202;refseq.mrnaCoord_2=2202;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S647S;refseq.proteinCoordStr_2=p.S647S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=49132003;refseq.start_2=49132003;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=soap GT 0/1 chr11 49132033 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.370390;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1911G>A;refseq.codingCoordStr_2=c.1911G>A;refseq.codonCoord_1=637;refseq.codonCoord_2=637;refseq.end_1=49132033;refseq.end_2=49132033;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2172;refseq.mrnaCoord_2=2172;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K637K;refseq.proteinCoordStr_2=p.K637K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=49132033;refseq.start_2=49132033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap GT 0/1 chr11 49132365 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.660310;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1879G>T;refseq.codingCoordStr_2=c.1879G>T;refseq.codonCoord_1=627;refseq.codonCoord_2=627;refseq.end_1=49132365;refseq.end_2=49132365;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2140;refseq.mrnaCoord_2=2140;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V627L;refseq.proteinCoordStr_2=p.V627L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=49132365;refseq.start_2=49132365;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=soap GT 1/0 chr11 49132406 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.406445;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1838G>A;refseq.codingCoordStr_2=c.1838G>A;refseq.codonCoord_1=613;refseq.codonCoord_2=613;refseq.end_1=49132406;refseq.end_2=49132406;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2099;refseq.mrnaCoord_2=2099;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S613N;refseq.proteinCoordStr_2=p.S613N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=49132406;refseq.start_2=49132406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=soap GT 0/1 chr11 49142869 . C T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.742856;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1404G>A;refseq.codingCoordStr_2=c.1404G>A;refseq.codonCoord_1=468;refseq.codonCoord_2=468;refseq.end_1=49142869;refseq.end_2=49142869;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1665;refseq.mrnaCoord_2=1665;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P468P;refseq.proteinCoordStr_2=p.P468P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=49142869;refseq.start_2=49142869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr11 49147384 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1311G>T;refseq.codingCoordStr_2=c.1311G>T;refseq.codonCoord_1=437;refseq.codonCoord_2=437;refseq.end_1=49147384;refseq.end_2=49147384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1572;refseq.mrnaCoord_2=1572;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E437D;refseq.proteinCoordStr_2=p.E437D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=49147384;refseq.start_2=49147384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr11 49153066 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.269760;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1059A>G;refseq.codingCoordStr_2=c.1059A>G;refseq.codonCoord_1=353;refseq.codonCoord_2=353;refseq.end_1=49153066;refseq.end_2=49153066;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=1320;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T353T;refseq.proteinCoordStr_2=p.T353T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=49153066;refseq.start_2=49153066;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 1/0 chr11 49154030 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.304320;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.976C>T;refseq.codingCoordStr_2=c.976C>T;refseq.codonCoord_1=326;refseq.codonCoord_2=326;refseq.end_1=49154030;refseq.end_2=49154030;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1237;refseq.mrnaCoord_2=1237;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P326S;refseq.proteinCoordStr_2=p.P326S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=49154030;refseq.start_2=49154030;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 1/0 chr11 49161308 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=300;Dels=0.00;HRun=0;HaplotypeScore=4.52;MQ=66.09;MQ0=7;OQ=342.86;QD=1.14;RankSumP=0.119086;SB=193.02;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.889A>G;refseq.codingCoordStr_2=c.889A>G;refseq.codonCoord_1=297;refseq.codonCoord_2=297;refseq.end_1=49161308;refseq.end_2=49161308;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1150;refseq.mrnaCoord_2=1150;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I297V;refseq.proteinCoordStr_2=p.I297V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=49161308;refseq.start_2=49161308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap-filterIngatk GT 1/0 chr11 49161355 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=79.79;MQ0=6;OQ=1470.90;QD=5.37;RankSumP=0.249352;SB=-550.23;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.842G>A;refseq.codingCoordStr_2=c.842G>A;refseq.codonCoord_1=281;refseq.codonCoord_2=281;refseq.end_1=49161355;refseq.end_2=49161355;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1103;refseq.mrnaCoord_2=1103;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R281H;refseq.proteinCoordStr_2=p.R281H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=49161355;refseq.start_2=49161355;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap-filterIngatk GT 0/1 chr11 49161366 . A G 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=227;Dels=0.00;HRun=0;HaplotypeScore=12.96;MQ=83.58;MQ0=6;OQ=1267.92;QD=5.59;RankSumP=0.481321;SB=-275.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.831T>C;refseq.codingCoordStr_2=c.831T>C;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.end_1=49161366;refseq.end_2=49161366;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1092;refseq.mrnaCoord_2=1092;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y277Y;refseq.proteinCoordStr_2=p.Y277Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=49161366;refseq.start_2=49161366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr11 49163936 . G T 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.674986;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.687C>A;refseq.codingCoordStr_2=c.687C>A;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.end_1=49163936;refseq.end_2=49163936;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=948;refseq.mrnaCoord_2=948;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S229S;refseq.proteinCoordStr_2=p.S229S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=49163936;refseq.start_2=49163936;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=soap GT 0/1 chr11 49164843 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=268;Dels=0.00;HRun=0;HaplotypeScore=10.76;MQ=63.91;MQ0=72;OQ=207.53;QD=0.77;RankSumP=0.152617;SB=-36.23;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.568C>T;refseq.codingCoordStr_2=c.568C>T;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=49164843;refseq.end_2=49164843;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=829;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R190W;refseq.proteinCoordStr_2=p.R190W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=49164843;refseq.start_2=49164843;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=soap-filterIngatk GT 1/0 chr11 49164874 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=388;Dels=0.00;HRun=0;HaplotypeScore=13.63;MQ=78.28;MQ0=84;OQ=5604.99;QD=14.45;RankSumP=0.339908;SB=-2234.53;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.537T>C;refseq.codingCoordStr_2=c.537T>C;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.end_1=49164874;refseq.end_2=49164874;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=798;refseq.mrnaCoord_2=798;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y179Y;refseq.proteinCoordStr_2=p.Y179Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=49164874;refseq.start_2=49164874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr11 49164895 . G A 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.185729;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.516C>T;refseq.codingCoordStr_2=c.516C>T;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=49164895;refseq.end_2=49164895;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=777;refseq.mrnaCoord_2=777;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G172G;refseq.proteinCoordStr_2=p.G172G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=49164895;refseq.start_2=49164895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 1/0 chr11 49170956 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.377972;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.478C>T;refseq.codingCoordStr_2=c.478C>T;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.end_1=49170956;refseq.end_2=49170956;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=739;refseq.mrnaCoord_2=739;refseq.name2_1=FOLH1;refseq.name2_2=FOLH1;refseq.name_1=NM_001014986;refseq.name_2=NM_004476;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P160S;refseq.proteinCoordStr_2=p.P160S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=49170956;refseq.start_2=49170956;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=soap GT 1/0 chr11 49930947 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=56.60;MQ0=135;OQ=10412.56;QD=26.50;RankSumP=1.00000;SB=-4841.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.397G>A;refseq.codonCoord=133;refseq.end=49930947;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_001001955;refseq.name2=OR4C13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=429;refseq.start=49930947;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 49959767 . C A 231.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=87.96;MQ0=3;OQ=4012.56;QD=20.79;RankSumP=0.398954;SB=-1699.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.847G>T;refseq.codonCoord=283;refseq.end=49959767;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_001005270;refseq.name2=OR4C12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V283L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-183;refseq.start=49959767;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr11 51268036 . G A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=96.32;MQ0=0;OQ=218.46;QD=12.85;RankSumP=0.0589411;SB=-85.07;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.936C>T;refseq.codonCoord=312;refseq.end=51268036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=989;refseq.name=NM_001005272;refseq.name2=OR4A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S312S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-82;refseq.start=51268036;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr11 51268316 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=2;HaplotypeScore=15.98;MQ=98.34;MQ0=0;OQ=4857.06;QD=17.04;RankSumP=0.322986;SB=-1735.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.656T>A;refseq.codonCoord=219;refseq.end=51268316;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=709;refseq.name=NM_001005272;refseq.name2=OR4A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L219Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-362;refseq.start=51268316;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr11 51268903 . T A 196.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=52.03;MQ0=24;OQ=2861.46;QD=17.55;RankSumP=0.332462;SB=-1245.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.69A>T;refseq.codonCoord=23;refseq.end=51268903;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=122;refseq.name=NM_001005272;refseq.name2=OR4A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K23N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=122;refseq.start=51268903;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 51268950 . T A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.0884019;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.22A>T;refseq.codonCoord=8;refseq.end=51268950;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_001005272;refseq.name2=OR4A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T8S;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=75;refseq.start=51268950;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap GT 1/0 chr11 51372576 . C T 100.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=12.39;MQ=41.03;MQ0=37;OQ=6744.34;QD=18.18;RankSumP=0.217765;SB=-2617.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.719C>T;refseq.codonCoord=240;refseq.end=51372576;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_001004703;refseq.name2=OR4C46;refseq.positionType=CDS;refseq.proteinCoordStr=p.S240F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-212;refseq.start=51372576;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr11 51372612 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=29.86;MQ0=272;OQ=5027.88;QD=9.38;RankSumP=0.466357;SB=-1824.51;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.755G>A;refseq.codonCoord=252;refseq.end=51372612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_001004703;refseq.name2=OR4C46;refseq.positionType=CDS;refseq.proteinCoordStr=p.C252Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-176;refseq.start=51372612;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr11 51372720 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=45.13;MQ0=58;OQ=531.85;QD=1.94;RankSumP=0.432534;SB=105.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.863A>G;refseq.codonCoord=288;refseq.end=51372720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_001004703;refseq.name2=OR4C46;refseq.positionType=CDS;refseq.proteinCoordStr=p.K288R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-68;refseq.start=51372720;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 0/1 chr11 54867814 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1268;Dels=0.00;HRun=0;HaplotypeScore=44.28;MQ=98.73;MQ0=0;OQ=22582.00;QD=17.81;RankSumP=0.167638;SB=-9133.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.562C>A;refseq.codonCoord=188;refseq.end=54867814;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_001005274;refseq.name2=OR4A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L188I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-426;refseq.start=54867814;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr11 54868160 . A T 258.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.33;MQ0=0;OQ=1702.35;QD=21.02;RankSumP=0.324583;SB=-829.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.908A>T;refseq.codonCoord=303;refseq.end=54868160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_001005274;refseq.name2=OR4A16;refseq.positionType=CDS;refseq.proteinCoordStr=p.K303M;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-80;refseq.start=54868160;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr11 54892011 . C T 264.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=99.00;MQ0=0;OQ=1929.59;QD=15.07;RankSumP=0.480961;SB=-963.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.76C>T;refseq.codonCoord=26;refseq.end=54892011;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=76;refseq.name=NM_001005275;refseq.name2=OR4A15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P26S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=76;refseq.start=54892011;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr11 55078787 . A G 177.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=18.59;MQ=98.61;MQ0=0;OQ=10646.42;QD=19.25;RankSumP=0.400763;SB=-3843.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.429A>G;refseq.codonCoord=143;refseq.end=55078787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_001001920;refseq.name2=OR4C15;refseq.positionType=CDS;refseq.proteinCoordStr=p.K143K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=429;refseq.start=55078787;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr11 55079394 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=249;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.76;MQ0=0;OQ=4203.75;QD=16.88;RankSumP=0.314590;SB=-170.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1036G>T;refseq.codonCoord=346;refseq.end=55079394;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_001001920;refseq.name2=OR4C15;refseq.positionType=CDS;refseq.proteinCoordStr=p.E346*;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-78;refseq.start=55079394;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 0/1 chr11 55096228 . C T 351.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.73;MQ0=0;OQ=6151.75;QD=18.31;RankSumP=0.480364;SB=-2494.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.49C>T;refseq.codonCoord=17;refseq.end=55096228;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_001004701;refseq.name2=OR4C16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q17*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=49;refseq.start=55096228;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 0/1 chr11 55096374 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=567;Dels=0.00;HRun=2;HaplotypeScore=2.98;MQ=98.99;MQ0=0;OQ=10961.04;QD=19.33;RankSumP=0.321927;SB=-4300.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.195C>T;refseq.codonCoord=65;refseq.end=55096374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_001004701;refseq.name2=OR4C16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S65S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=195;refseq.start=55096374;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr11 55096405 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=707;Dels=0.00;HRun=0;HaplotypeScore=28.08;MQ=98.92;MQ0=0;OQ=29773.52;QD=42.11;RankSumP=1.00000;SB=-11730.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.226A>G;refseq.codonCoord=76;refseq.end=55096405;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_001004701;refseq.name2=OR4C16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T76A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=226;refseq.start=55096405;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 55096955 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=455;Dels=0.00;HRun=2;HaplotypeScore=2.96;MQ=98.87;MQ0=0;OQ=8714.74;QD=19.15;RankSumP=0.288824;SB=-3250.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.776T>C;refseq.codonCoord=259;refseq.end=55096955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_001004701;refseq.name2=OR4C16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L259P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-158;refseq.start=55096955;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr11 55189616 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=10.71;MQ=98.74;MQ0=0;OQ=9415.53;QD=21.35;RankSumP=0.0705632;SB=-4001.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398T>C;refseq.codonCoord=133;refseq.end=55189616;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001004704;refseq.name2=OR4C6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I133T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=398;refseq.start=55189616;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr11 55189661 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=6;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.443T>G;refseq.codonCoord=148;refseq.end=55189661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_001004704;refseq.name2=OR4C6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V148G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=443;refseq.start=55189661;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 55297674 . G A 240.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=10.49;MQ=98.62;MQ0=0;OQ=14969.47;QD=40.35;RankSumP=1.00000;SB=-7461.47;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.185G>A;refseq.codonCoord=62;refseq.end=55297674;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_001001967;refseq.name2=OR5D13;refseq.positionType=CDS;refseq.proteinCoordStr=p.C62Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=185;refseq.start=55297674;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr11 55320178 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=708;Dels=0.00;HRun=0;HaplotypeScore=23.22;MQ=98.72;MQ0=0;OQ=15890.52;QD=22.44;RankSumP=0.277181;SB=-6588.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.571G>A;refseq.codonCoord=191;refseq.end=55320178;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001004735;refseq.name2=OR5D14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G191S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-375;refseq.start=55320178;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr11 55320314 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=357;Dels=0.00;HRun=0;HaplotypeScore=16.00;MQ=98.75;MQ0=0;OQ=7416.41;QD=20.77;RankSumP=0.306707;SB=-2502.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.707G>A;refseq.codonCoord=236;refseq.end=55320314;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_001004735;refseq.name2=OR5D14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R236H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-239;refseq.start=55320314;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 55320352 . T G 349.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=98.72;MQ0=0;OQ=10767.34;QD=40.63;RankSumP=1.00000;SB=-3511.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.745T>G;refseq.codonCoord=249;refseq.end=55320352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_001004735;refseq.name2=OR5D14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S249A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-201;refseq.start=55320352;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr11 55335563 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=876;Dels=0.00;HRun=0;HaplotypeScore=25.87;MQ=62.94;MQ0=425;OQ=9159.15;QD=10.46;RankSumP=0.414098;SB=-3731.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.45T>C;refseq.codonCoord=15;refseq.end=55335563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=45;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L15L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=45;refseq.start=55335563;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr11 55335567 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=902;Dels=0.00;HRun=1;HaplotypeScore=31.27;MQ=60.79;MQ0=459;OQ=9798.40;QD=10.86;RankSumP=0.125572;SB=-3855.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.49C>T;refseq.codonCoord=17;refseq.end=55335567;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L17L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=49;refseq.start=55335567;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr11 55335678 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1022;Dels=0.00;HRun=1;HaplotypeScore=22.11;MQ=64.63;MQ0=39;OQ=19209.47;QD=18.80;RankSumP=0.403036;SB=-7746.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.160C>T;refseq.codonCoord=54;refseq.end=55335678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=160;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R54W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=160;refseq.start=55335678;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr11 55335721 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.188641;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.203C>T;refseq.codonCoord=68;refseq.end=55335721;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=203;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S68F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=203;refseq.start=55335721;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr11 55335758 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.177605;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.240A>G;refseq.codonCoord=80;refseq.end=55335758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K80K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=240;refseq.start=55335758;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr11 55335905 . T C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.197540;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.387T>C;refseq.codonCoord=129;refseq.end=55335905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P129P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=387;refseq.start=55335905;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr11 55335906 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.322867;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.388T>C;refseq.codonCoord=130;refseq.end=55335906;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L130L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=388;refseq.start=55335906;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr11 55335995 . T C 200.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=602;Dels=0.00;HRun=0;HaplotypeScore=12.66;MQ=97.75;MQ0=0;OQ=10765.98;QD=17.88;RankSumP=0.272494;SB=-3088.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=55335995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H159H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-460;refseq.start=55335995;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 55336377 . T C 183.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=5.30;MQ=97.93;MQ0=0;OQ=4367.01;QD=21.00;RankSumP=0.0902243;SB=-1110.81;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.859T>C;refseq.codonCoord=287;refseq.end=55336377;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=859;refseq.name=NM_001004738;refseq.name2=OR5L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S287P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-78;refseq.start=55336377;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr11 55343693 . T A 323.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.93;MQ0=0;OQ=5614.68;QD=41.59;RankSumP=1.00000;SB=-1302.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.12T>A;refseq.codonCoord=4;refseq.end=55343693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12;refseq.name=NM_001001952;refseq.name2=OR5D18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=12;refseq.start=55343693;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 55344087 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=650;Dels=0.00;HRun=0;HaplotypeScore=15.06;MQ=98.78;MQ0=0;OQ=26782.35;QD=41.20;RankSumP=1.00000;SB=-11898.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.406A>G;refseq.codonCoord=136;refseq.end=55344087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_001001952;refseq.name2=OR5D18;refseq.positionType=CDS;refseq.proteinCoordStr=p.N136D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=406;refseq.start=55344087;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 55344490 . A G 268.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=6.37;MQ=72.05;MQ0=12;OQ=5279.41;QD=18.66;RankSumP=0.0513131;SB=-1799.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.809A>G;refseq.codonCoord=270;refseq.end=55344490;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_001001952;refseq.name2=OR5D18;refseq.positionType=CDS;refseq.proteinCoordStr=p.H270R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-134;refseq.start=55344490;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr11 55351445 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=912;Dels=0.00;HRun=0;HaplotypeScore=27.22;MQ=38.16;MQ0=177;OQ=6676.57;QD=7.32;RankSumP=0.242000;SB=-2081.12;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.175G>A;refseq.codonCoord=59;refseq.end=55351445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=175;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V59M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=175;refseq.start=55351445;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr11 55351588 . A T 5045.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=519;Dels=0.00;HRun=1;HaplotypeScore=4.59;MQ=75.53;MQ0=50;QD=9.72;RankSumP=0.0610638;SB=64.63;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.318A>T;refseq.codonCoord=106;refseq.end=55351588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T106T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=318;refseq.start=55351588;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap-filterIngatk GT 0/1 chr11 55351593 . G T 4914.58 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=506;Dels=0.00;HRun=0;HaplotypeScore=10.74;MQ=78.35;MQ0=36;QD=9.71;SB=3.62;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.323G>T;refseq.codonCoord=108;refseq.end=55351593;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G108V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=323;refseq.start=55351593;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:363,143:447:-490.46,-134.59,-1337.58:99 chr11 55351594 rs61745634 A G 5765.39 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=510;Dels=0.00;HRun=2;HaplotypeScore=12.74;MQ=79.27;MQ0=30;QD=11.30;SB=-173.60;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.324A>G;refseq.codonCoord=108;refseq.end=55351594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=324;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G108G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=324;refseq.start=55351594;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:356,154:455:-575.54,-137.01,-1398.19:99 chr11 55351690 . G T 12747.87 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=752;Dels=0.00;HRun=1;HaplotypeScore=16.60;MQ=94.85;MQ0=0;QD=16.95;RankSumP=0.0810798;SB=-5257.02;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.420G>T;refseq.codonCoord=140;refseq.end=55351690;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L140L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=420;refseq.start=55351690;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 0/1 chr11 55351691 . C T 13598.30 SnpCluster AC=1;AF=0.50;AN=2;DP=745;Dels=0.00;HRun=0;HaplotypeScore=16.44;MQ=94.81;MQ0=0;QD=18.25;SB=-5511.60;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.421C>T;refseq.codonCoord=141;refseq.end=55351691;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R141C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=421;refseq.start=55351691;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:380,362:683:-1358.83,-205.70,-1426.70:99 chr11 55351692 . G C 15597.47 SnpCluster AC=1;AF=0.50;AN=2;DP=742;Dels=0.00;HRun=1;HaplotypeScore=16.12;MQ=94.84;MQ0=0;QD=21.02;SB=-6025.36;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.422G>C;refseq.codonCoord=141;refseq.end=55351692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_001004739;refseq.name2=OR5L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R141P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=422;refseq.start=55351692;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:375,365:679:-1558.75,-204.49,-1687.69:99 chr11 55362878 . G T 267.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=6.88;MQ=98.80;MQ0=0;OQ=5443.56;QD=18.64;RankSumP=0.0901548;SB=-1854.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.75G>T;refseq.codonCoord=25;refseq.end=55362878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_001005496;refseq.name2=OR5D16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L25L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=75;refseq.start=55362878;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr11 55363394 . C T 346.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=0;HaplotypeScore=11.14;MQ=98.89;MQ0=0;OQ=7910.04;QD=18.44;RankSumP=0.365666;SB=-2547.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.591C>T;refseq.codonCoord=197;refseq.end=55363394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_001005496;refseq.name2=OR5D16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S197S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-397;refseq.start=55363394;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr11 55437706 . A T 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=119.37;QD=9.95;RankSumP=0.773810;SB=-31.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.929T>A;refseq.codonCoord=310;refseq.end=55437706;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_001001960;refseq.name2=OR5W2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F310Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=55437706;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr11 55438070 . G A 245.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=1;HaplotypeScore=2.72;MQ=98.91;MQ0=0;OQ=14466.53;QD=42.55;RankSumP=1.00000;SB=-5682.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.565C>T;refseq.codonCoord=189;refseq.end=55438070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_001001960;refseq.name2=OR5W2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R189C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-369;refseq.start=55438070;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 55438142 . G A 197.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=6.60;MQ=98.80;MQ0=0;OQ=9175.89;QD=20.39;RankSumP=0.261278;SB=-3348.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.493C>T;refseq.codonCoord=165;refseq.end=55438142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_001001960;refseq.name2=OR5W2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R165C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-441;refseq.start=55438142;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr11 55459823 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=9.57;MQ=97.58;MQ0=0;OQ=759.43;QD=14.60;RankSumP=0.299309;SB=-0.98;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.630C>T;refseq.codonCoord=210;refseq.end=55459823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_006637;refseq.name2=OR5I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I210I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-316;refseq.start=55459823;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr11 55460304 . A G 330 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=4466.27;QD=19.85;RankSumP=0.243750;SB=-1805.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.149T>C;refseq.codonCoord=50;refseq.end=55460304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_006637;refseq.name2=OR5I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L50S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=149;refseq.start=55460304;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr11 55517797 . C T 103.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=10.84;MQ=81.64;MQ0=22;OQ=12955.19;QD=34.92;RankSumP=1.00000;SB=-3989.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.881G>A;refseq.codonCoord=294;refseq.end=55517797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_003697;refseq.name2=OR5F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S294N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-65;refseq.start=55517797;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr11 55518104 . T C 243.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=11.69;MQ=98.69;MQ0=0;OQ=6220.09;QD=18.46;RankSumP=0.380249;SB=-1858.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.574A>G;refseq.codonCoord=192;refseq.end=55518104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_003697;refseq.name2=OR5F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T192A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-372;refseq.start=55518104;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr11 55518314 . T G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=58.73;MQ0=25;OQ=6083.17;QD=29.25;RankSumP=1.00000;SB=-2366.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.364A>C;refseq.codonCoord=122;refseq.end=55518314;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_003697;refseq.name2=OR5F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R122R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=364;refseq.start=55518314;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 55554728 . G A 292.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.66;MQ0=0;OQ=9489.00;QD=42.36;RankSumP=1.00000;SB=-4564.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.258G>A;refseq.codonCoord=86;refseq.end=55554728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_001001921;refseq.name2=OR5AS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=258;refseq.start=55554728;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr11 55617499 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.164951;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.140C>T;refseq.codonCoord=47;refseq.end=55617499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_001003750;refseq.name2=OR8I2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T47M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=140;refseq.start=55617499;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr11 55629233 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=686;Dels=0.00;HRun=0;HaplotypeScore=18.25;MQ=55.62;MQ0=152;OQ=4847.44;QD=7.07;RankSumP=0.307799;SB=-106.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.139A>C;refseq.codonCoord=47;refseq.end=55629233;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=139;refseq.name=NM_001005200;refseq.name2=OR8H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I47L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=139;refseq.start=55629233;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr11 55629452 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=799;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=52.35;MQ0=209;OQ=20566.67;QD=25.74;RankSumP=1.00000;SB=-6522.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.358C>T;refseq.codonCoord=120;refseq.end=55629452;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_001005200;refseq.name2=OR8H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H120Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=358;refseq.start=55629452;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr11 55629600 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=887;Dels=0.00;HRun=0;HaplotypeScore=12.51;MQ=86.91;MQ0=2;OQ=37589.13;QD=42.38;RankSumP=1.00000;SB=-14429.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.506A>G;refseq.codonCoord=169;refseq.end=55629600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_001005200;refseq.name2=OR8H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y169C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-434;refseq.start=55629600;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 55629720 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=576;Dels=0.00;HRun=0;HaplotypeScore=16.80;MQ=96.38;MQ0=0;OQ=11332.67;QD=19.67;RankSumP=0.482715;SB=-3598.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.626T>C;refseq.codonCoord=209;refseq.end=55629720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_001005200;refseq.name2=OR8H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-314;refseq.start=55629720;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 55629944 . G A 360.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=87.69;MQ0=11;OQ=7658.89;QD=36.47;RankSumP=1.00000;SB=-2597.35;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=55629944;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_001005200;refseq.name2=OR8H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V284M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-90;refseq.start=55629944;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr11 55646623 . C T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.338963;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.199C>T;refseq.codonCoord=67;refseq.end=55646623;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_001005201;refseq.name2=OR8H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L67L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=199;refseq.start=55646623;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr11 55646656 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.379731;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.232G>A;refseq.codonCoord=78;refseq.end=55646656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_001005201;refseq.name2=OR8H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=232;refseq.start=55646656;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/0 chr11 55646732 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=7.62411e-06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.308G>T;refseq.codonCoord=103;refseq.end=55646732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_001005201;refseq.name2=OR8H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C103F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=308;refseq.start=55646732;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr11 55646833 . C T 152.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=64.44;MQ0=124;OQ=9241.58;QD=24.64;RankSumP=1.00000;SB=-3981.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.409C>T;refseq.codonCoord=137;refseq.end=55646833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_001005201;refseq.name2=OR8H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P137S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=409;refseq.start=55646833;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 55756642 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=606;Dels=0.00;HRun=0;HaplotypeScore=22.90;MQ=88.33;MQ0=5;OQ=10288.65;QD=16.98;RankSumP=0.407920;SB=-4220.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.596C>T;refseq.codonCoord=199;refseq.end=55756642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_001004746;refseq.name2=OR5T2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T199I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-485;refseq.start=55756642;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr11 55756979 . C G 96.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.82;MQ0=0;OQ=10821.98;QD=49.19;RankSumP=1.00000;SB=-5286.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.259G>C;refseq.codonCoord=87;refseq.end=55756979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_001004746;refseq.name2=OR5T2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V87L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=259;refseq.start=55756979;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 55757176 . G T 325.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=13.85;MQ=98.92;MQ0=0;OQ=10421.54;QD=18.98;RankSumP=0.208828;SB=-2368.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.62C>A;refseq.codonCoord=21;refseq.end=55757176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=62;refseq.name=NM_001004746;refseq.name2=OR5T2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S21Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=62;refseq.start=55757176;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr11 55800180 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1047;Dels=0.00;HRun=1;HaplotypeScore=11.10;MQ=47.53;MQ0=245;OQ=11393.52;QD=10.88;RankSumP=0.241421;SB=-3666.97;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.490A>G;refseq.codonCoord=164;refseq.end=55800180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_001004745;refseq.name2=OR5T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S164G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=490;refseq.start=55800180;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr11 55800278 . G C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=813;Dels=0.00;HRun=1;HaplotypeScore=8.71;MQ=86.21;MQ0=87;OQ=34464.13;QD=42.39;RankSumP=1.00000;SB=-17076.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.588G>C;refseq.codonCoord=196;refseq.end=55800278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_001004745;refseq.name2=OR5T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L196L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-394;refseq.start=55800278;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap-filterIngatk GT 1/1 chr11 55814308 . C T 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.416514;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.807G>A;refseq.codonCoord=269;refseq.end=55814308;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_001005199;refseq.name2=OR8H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R269R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-130;refseq.start=55814308;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 0/1 chr11 55814317 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.387752;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.798T>C;refseq.codonCoord=266;refseq.end=55814317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_001005199;refseq.name2=OR8H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S266S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-139;refseq.start=55814317;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr11 55814773 . G A 236.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=98.31;MQ0=0;OQ=9110.92;QD=21.19;RankSumP=0.489422;SB=-1503.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=55814773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_001005199;refseq.name2=OR8H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L114L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=342;refseq.start=55814773;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr11 55814919 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.327693;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.196T>C;refseq.codonCoord=66;refseq.end=55814919;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_001005199;refseq.name2=OR8H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L66L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=196;refseq.start=55814919;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr11 55842723 . T G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=21.15;MQ=98.92;MQ0=0;OQ=12858.53;QD=36.02;RankSumP=1.00000;SB=-5066.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.365T>G;refseq.codonCoord=122;refseq.end=55842723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_001005202;refseq.name2=OR8K3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L122R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=365;refseq.start=55842723;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 55870092 . T C 399.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=4899.17;QD=38.27;RankSumP=1.00000;SB=-1148.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2T>C;refseq.codonCoord=1;refseq.end=55870092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2;refseq.name=NM_001002907;refseq.name2=OR8K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=55870092;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 55870151 . A G 246.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.78;MQ0=0;OQ=2865.44;QD=14.40;RankSumP=0.0614506;SB=-1102.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.61A>G;refseq.codonCoord=21;refseq.end=55870151;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=61;refseq.name=NM_001002907;refseq.name2=OR8K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M21V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=61;refseq.start=55870151;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 55870169 . C A 158.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=7.44;MQ=98.80;MQ0=0;OQ=2847.47;QD=12.83;RankSumP=0.288591;SB=-930.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.79C>A;refseq.codonCoord=27;refseq.end=55870169;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_001002907;refseq.name2=OR8K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=79;refseq.start=55870169;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr11 55884322 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=70.95;MQ0=65;OQ=5336.68;QD=25.91;RankSumP=1.00000;SB=-1534.42;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.24A>G;refseq.codonCoord=8;refseq.end=55884322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=24;refseq.name=NM_001005205;refseq.name2=OR8J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=24;refseq.start=55884322;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr11 55885100 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=603;Dels=0.00;HRun=1;HaplotypeScore=9.35;MQ=98.64;MQ0=0;OQ=25890.38;QD=42.94;RankSumP=1.00000;SB=-10805.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.802C>T;refseq.codonCoord=268;refseq.end=55885100;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_001005205;refseq.name2=OR8J1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L268L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-150;refseq.start=55885100;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 55899732 . C T 357.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.23;MQ0=0;OQ=7178.37;QD=18.36;RankSumP=0.169421;SB=-2354.75;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.57C>T;refseq.codingCoordStr_2=c.57C>T;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=55899732;refseq.end_2=55899732;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=57;refseq.mrnaCoord_2=57;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D19D;refseq.proteinCoordStr_2=p.D19D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=55899732;refseq.start_2=55899732;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr11 55899734 . A G 334.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=7.40;MQ=98.24;MQ0=0;OQ=6963.97;QD=16.94;RankSumP=0.272081;SB=-2124.96;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.59A>G;refseq.codingCoordStr_2=c.59A>G;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=55899734;refseq.end_2=55899734;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=59;refseq.mrnaCoord_2=59;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H20R;refseq.proteinCoordStr_2=p.H20R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=55899734;refseq.start_2=55899734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr11 55899933 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=589;Dels=0.00;HRun=0;HaplotypeScore=18.35;MQ=98.10;MQ0=0;OQ=369.08;QD=0.63;SB=462.39;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.258G>A;refseq.codingCoordStr_2=c.258G>A;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=55899933;refseq.end_2=55899933;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=258;refseq.mrnaCoord_2=258;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L86L;refseq.proteinCoordStr_2=p.L86L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=258;refseq.spliceDist_2=258;refseq.start_1=55899933;refseq.start_2=55899933;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:524,65:575:-213.33,-173.13,-2165.46:99 chr11 55900000 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=542;Dels=0.00;HRun=1;HaplotypeScore=18.90;MQ=98.80;MQ0=0;OQ=11602.76;QD=21.41;RankSumP=0.457402;SB=-4945.63;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.325A>G;refseq.codingCoordStr_2=c.325A>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=55900000;refseq.end_2=55900000;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=325;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I109V;refseq.proteinCoordStr_2=p.I109V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=325;refseq.spliceDist_2=325;refseq.start_1=55900000;refseq.start_2=55900000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr11 55900065 . A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=434;Dels=0.00;HRun=0;HaplotypeScore=14.26;MQ=97.17;MQ0=0;OQ=697.22;QD=1.61;SB=494.57;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.390A>G;refseq.codingCoordStr_2=c.390A>G;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.end_1=55900065;refseq.end_2=55900065;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=390;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L130L;refseq.proteinCoordStr_2=p.L130L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=390;refseq.spliceDist_2=390;refseq.start_1=55900065;refseq.start_2=55900065;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:378,50:376:-186.25,-113.25,-1381.80:99 chr11 55900086 rs10791963 T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=484;Dels=0.00;HRun=2;HaplotypeScore=18.59;MQ=96.58;MQ0=0;OQ=450.92;QD=0.93;SB=479.81;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.411T>C;refseq.codingCoordStr_2=c.411T>C;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=55900086;refseq.end_2=55900086;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=411;refseq.mrnaCoord_2=411;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T137T;refseq.proteinCoordStr_2=p.T137T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=411;refseq.spliceDist_2=-388;refseq.start_1=55900086;refseq.start_2=55900086;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:392,90:423:-175.75,-127.37,-1655.82:99 chr11 55900146 rs11228169 A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1038;Dels=0.00;HRun=0;HaplotypeScore=31.67;MQ=95.58;MQ0=0;OQ=1587.76;QD=1.53;SB=-312.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.471A>G;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=55900146;refseq.end_2=55900146;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=471;refseq.mrnaCoord_2=471;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L157L;refseq.proteinCoordStr_2=p.L157L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-460;refseq.spliceDist_2=-328;refseq.start_1=55900146;refseq.start_2=55900146;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:667,368:740:-385.00,-222.94,-2595.35:99 chr11 55900168 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1353;Dels=0.00;HRun=0;HaplotypeScore=50.11;MQ=95.61;MQ0=0;OQ=16934.81;QD=12.52;RankSumP=0.130329;SB=-5351.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.493C>T;refseq.codingCoordStr_2=c.493C>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=55900168;refseq.end_2=55900168;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=493;refseq.mrnaCoord_2=493;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R165C;refseq.proteinCoordStr_2=p.R165C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-438;refseq.spliceDist_2=-306;refseq.start_1=55900168;refseq.start_2=55900168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr11 55900266 . C A 11613.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=843;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=95.36;MQ0=0;QD=13.78;RankSumP=0.412592;SB=-474.40;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.591C>A;refseq.codingCoordStr_2=c.591C>A;refseq.codonCoord_1=197;refseq.codonCoord_2=197;refseq.end_1=55900266;refseq.end_2=55900266;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=591;refseq.mrnaCoord_2=591;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L197L;refseq.proteinCoordStr_2=p.L197L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-340;refseq.spliceDist_2=-208;refseq.start_1=55900266;refseq.start_2=55900266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=soap-filterIngatk GT 1/0 chr11 55900272 . C T 10992.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=796;Dels=0.00;HRun=3;HaplotypeScore=27.05;MQ=95.32;MQ0=0;QD=13.81;RankSumP=0.400271;SB=-269.40;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.597C>T;refseq.codingCoordStr_2=c.597C>T;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.end_1=55900272;refseq.end_2=55900272;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=597;refseq.mrnaCoord_2=597;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I199I;refseq.proteinCoordStr_2=p.I199I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-334;refseq.spliceDist_2=-202;refseq.start_1=55900272;refseq.start_2=55900272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=soap-filterIngatk GT 0/1 chr11 55900275 rs4990121 T G 1734.82 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=761;Dels=0.00;HRun=1;HaplotypeScore=22.43;MQ=95.25;MQ0=0;QD=2.28;SB=-99.80;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.600T>G;refseq.codingCoordStr_2=c.600T>G;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=55900275;refseq.end_2=55900275;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=600;refseq.mrnaCoord_2=600;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F200L;refseq.proteinCoordStr_2=p.F200L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-331;refseq.spliceDist_2=-199;refseq.start_1=55900275;refseq.start_2=55900275;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:520,241:601:-357.73,-180.96,-2011.38:99 chr11 55900544 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1076.27;QD=18.56;RankSumP=0.500000;SB=-358.48;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.869A>G;refseq.codingCoordStr_2=c.853+6;refseq.codonCoord_1=290;refseq.end_1=55900544;refseq.end_2=55900544;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=869;refseq.name2_1=OR8U1;refseq.name2_2=OR8U8;refseq.name_1=NM_001005204;refseq.name_2=NM_001013356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.proteinCoordStr_1=p.Y290C;refseq.referenceAA_1=Tyr;refseq.referenceCodon_1=TAT;refseq.spliceDist_1=-62;refseq.spliceDist_2=6;refseq.spliceInfo_2=splice-donor_6;refseq.start_1=55900544;refseq.start_2=55900544;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantCodon_1=TGT;set=Intersection GT 0/1 chr11 55941464 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=615;Dels=0.00;HRun=2;HaplotypeScore=6.99;MQ=98.98;MQ0=0;OQ=12455.90;QD=20.25;RankSumP=0.0158768;SB=-5001.84;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.821C>T;refseq.codonCoord_2=274;refseq.end_1=56265073;refseq.end_2=55941464;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=821;refseq.name2_1=OR8U8;refseq.name2_2=OR5R1;refseq.name_1=NM_001013356;refseq.name_2=NM_001004744;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A274V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=-155;refseq.start_1=55900549;refseq.start_2=55941464;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr11 55941800 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=599;Dels=0.00;HRun=1;HaplotypeScore=31.67;MQ=98.82;MQ0=0;OQ=10883.48;QD=18.17;RankSumP=0.0433148;SB=-4130.33;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.485T>C;refseq.codonCoord_2=162;refseq.end_1=56265073;refseq.end_2=55941800;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=485;refseq.name2_1=OR8U8;refseq.name2_2=OR5R1;refseq.name_1=NM_001013356;refseq.name_2=NM_001004744;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I162T;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=485;refseq.start_1=55900549;refseq.start_2=55941800;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr11 55941921 . A G 306.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.74;MQ0=0;OQ=8967.72;QD=18.64;RankSumP=0.466030;SB=-3149.97;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.364T>C;refseq.codonCoord_2=122;refseq.end_1=56265073;refseq.end_2=55941921;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=364;refseq.name2_1=OR8U8;refseq.name2_2=OR5R1;refseq.name_1=NM_001013356;refseq.name_2=NM_001004744;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C122R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=364;refseq.start_1=55900549;refseq.start_2=55941921;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr11 55994058 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.492G>T;refseq.codonCoord_2=164;refseq.end_1=56265073;refseq.end_2=55994058;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=492;refseq.name2_1=OR8U8;refseq.name2_2=OR5M3;refseq.name_1=NM_001013356;refseq.name_2=NM_001004742;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L164F;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=-433;refseq.start_1=55900549;refseq.start_2=55994058;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr11 56187792 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=743;Dels=0.00;HRun=0;HaplotypeScore=13.13;MQ=98.80;MQ0=0;OQ=15191.32;QD=20.45;RankSumP=0.0721724;SB=-5353.01;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.55C>T;refseq.codonCoord_2=19;refseq.end_1=56265073;refseq.end_2=56187792;refseq.frame_2=0;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=55;refseq.name2_1=OR8U8;refseq.name2_2=OR5AR1;refseq.name_1=NM_001013356;refseq.name_2=NM_001004730;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q19*;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=55;refseq.start_1=55900549;refseq.start_2=56187792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAG;set=Intersection GT 0/1 chr11 56188410 . A G 225 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=7.58;MQ=98.46;MQ0=0;OQ=8661.72;QD=19.42;RankSumP=0.349032;SB=-3080.77;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.673A>G;refseq.codonCoord_2=225;refseq.end_1=56265073;refseq.end_2=56188410;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=673;refseq.name2_1=OR8U8;refseq.name2_2=OR5AR1;refseq.name_1=NM_001013356;refseq.name_2=NM_001004730;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I225V;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-261;refseq.start_1=55900549;refseq.start_2=56188410;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 56224457 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=327;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=95.77;MQ0=0;OQ=5934.46;QD=18.15;RankSumP=0.328733;SB=-1765.95;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.18T>C;refseq.codingCoordStr_3=c.18T>C;refseq.codonCoord_2=6;refseq.codonCoord_3=6;refseq.end_1=56265073;refseq.end_2=56224457;refseq.end_3=56224457;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=18;refseq.mrnaCoord_3=18;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H6H;refseq.proteinCoordStr_3=p.H6H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=55900549;refseq.start_2=56224457;refseq.start_3=56224457;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr11 56224502 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=385;Dels=0.00;HRun=2;HaplotypeScore=5.06;MQ=95.70;MQ0=0;OQ=6962.90;QD=18.09;RankSumP=0.455132;SB=-2806.80;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.63A>G;refseq.codingCoordStr_3=c.63A>G;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=56265073;refseq.end_2=56224502;refseq.end_3=56224502;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=63;refseq.mrnaCoord_3=63;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G21G;refseq.proteinCoordStr_3=p.G21G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.start_1=55900549;refseq.start_2=56224502;refseq.start_3=56224502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr11 56224521 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=20.70;MQ=96.19;MQ0=0;OQ=2554.30;QD=6.53;RankSumP=0.213905;SB=-1066.34;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.82G>T;refseq.codingCoordStr_3=c.82G>T;refseq.codonCoord_2=28;refseq.codonCoord_3=28;refseq.end_1=56265073;refseq.end_2=56224521;refseq.end_3=56224521;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=82;refseq.mrnaCoord_3=82;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V28L;refseq.proteinCoordStr_3=p.V28L;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.start_1=55900549;refseq.start_2=56224521;refseq.start_3=56224521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 0/1 chr11 56224596 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=76.05;MQ=93.96;MQ0=0;OQ=6174.21;QD=22.95;RankSumP=0.477972;SB=-2684.74;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.157T>C;refseq.codingCoordStr_3=c.157T>C;refseq.codonCoord_2=53;refseq.codonCoord_3=53;refseq.end_1=56265073;refseq.end_2=56224596;refseq.end_3=56224596;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=157;refseq.mrnaCoord_3=157;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C53R;refseq.proteinCoordStr_3=p.C53R;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_2=157;refseq.spliceDist_3=157;refseq.start_1=55900549;refseq.start_2=56224596;refseq.start_3=56224596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=soap-filterIngatk GT 1/0 chr11 56224597 . G A 89 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=78.83;MQ=93.59;MQ0=0;OQ=1866.62;QD=7.02;RankSumP=0.00277328;SB=-822.99;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.158G>A;refseq.codingCoordStr_3=c.158G>A;refseq.codonCoord_2=53;refseq.codonCoord_3=53;refseq.end_1=56265073;refseq.end_2=56224597;refseq.end_3=56224597;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=158;refseq.mrnaCoord_3=158;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C53Y;refseq.proteinCoordStr_3=p.C53Y;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_2=158;refseq.spliceDist_3=158;refseq.start_1=55900549;refseq.start_2=56224597;refseq.start_3=56224597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=FilteredInAll GT 1/0 chr11 56224620 rs3975155 T G 4387.53 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=11.15;MQ=88.85;MQ0=8;QD=20.50;SB=-1741.03;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.181T>G;refseq.codingCoordStr_3=c.181T>G;refseq.codonCoord_2=61;refseq.codonCoord_3=61;refseq.end_1=56265073;refseq.end_2=56224620;refseq.end_3=56224620;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=181;refseq.mrnaCoord_3=181;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F61V;refseq.proteinCoordStr_3=p.F61V;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_2=181;refseq.spliceDist_3=181;refseq.start_1=55900549;refseq.start_2=56224620;refseq.start_3=56224620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:88,125:192:-437.75,-60.49,-327.47:99 chr11 56224623 rs2865519 A G 3895.51 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=88.28;MQ0=11;QD=18.55;SB=-1529.52;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.184A>G;refseq.codingCoordStr_3=c.184A>G;refseq.codonCoord_2=62;refseq.codonCoord_3=62;refseq.end_1=56265073;refseq.end_2=56224623;refseq.end_3=56224623;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=184;refseq.mrnaCoord_3=184;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T62A;refseq.proteinCoordStr_3=p.T62A;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_2=184;refseq.spliceDist_3=184;refseq.start_1=55900549;refseq.start_2=56224623;refseq.start_3=56224623;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:88,122:184:-388.55,-55.42,-342.32:99 chr11 56224624 . C T 7731.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=88.12;MQ0=11;QD=37.53;RankSumP=1.00000;SB=-3800.51;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.185C>T;refseq.codingCoordStr_3=c.185C>T;refseq.codonCoord_2=62;refseq.codonCoord_3=62;refseq.end_1=56265073;refseq.end_2=56224624;refseq.end_3=56224624;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=185;refseq.mrnaCoord_3=185;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T62I;refseq.proteinCoordStr_3=p.T62I;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_2=185;refseq.spliceDist_3=185;refseq.start_1=55900549;refseq.start_2=56224624;refseq.start_3=56224624;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=soap-filterIngatk GT 1/1 chr11 56224687 . C T 113.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=81.48;MQ0=90;OQ=7313.49;QD=14.28;RankSumP=0.0285619;SB=-2206.81;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.248C>T;refseq.codingCoordStr_3=c.248C>T;refseq.codonCoord_2=83;refseq.codonCoord_3=83;refseq.end_1=56265073;refseq.end_2=56224687;refseq.end_3=56224687;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=248;refseq.mrnaCoord_3=248;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T83I;refseq.proteinCoordStr_3=p.T83I;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=248;refseq.spliceDist_3=248;refseq.start_1=55900549;refseq.start_2=56224687;refseq.start_3=56224687;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr11 56224731 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=588;Dels=0.00;HRun=1;HaplotypeScore=3.90;MQ=90.53;MQ0=35;OQ=5592.38;QD=9.51;RankSumP=0.182906;SB=-1975.62;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.292T>G;refseq.codingCoordStr_3=c.292T>G;refseq.codonCoord_2=98;refseq.codonCoord_3=98;refseq.end_1=56265073;refseq.end_2=56224731;refseq.end_3=56224731;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=292;refseq.mrnaCoord_3=292;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C98G;refseq.proteinCoordStr_3=p.C98G;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_2=292;refseq.spliceDist_3=292;refseq.start_1=55900549;refseq.start_2=56224731;refseq.start_3=56224731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr11 56224774 rs4990194 A G 5076.52 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=12.47;MQ=93.75;MQ0=0;QD=10.15;SB=-1832.28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.335A>G;refseq.codingCoordStr_3=c.335A>G;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=56265073;refseq.end_2=56224774;refseq.end_3=56224774;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=335;refseq.mrnaCoord_3=335;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y112C;refseq.proteinCoordStr_3=p.Y112C;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=335;refseq.spliceDist_3=335;refseq.start_1=55900549;refseq.start_2=56224774;refseq.start_3=56224774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:285,197:399:-506.65,-120.22,-1066.50:99 chr11 56224776 rs4990195 C T 5365.98 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=499;Dels=0.00;HRun=1;HaplotypeScore=29.71;MQ=93.78;MQ0=0;QD=10.75;SB=-1682.41;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.337C>T;refseq.codingCoordStr_3=c.337C>T;refseq.codonCoord_2=113;refseq.codonCoord_3=113;refseq.end_1=56265073;refseq.end_2=56224776;refseq.end_3=56224776;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=337;refseq.mrnaCoord_3=337;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L113L;refseq.proteinCoordStr_3=p.L113L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=337;refseq.spliceDist_3=337;refseq.start_1=55900549;refseq.start_2=56224776;refseq.start_3=56224776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:303,195:400:-535.60,-120.46,-1107.27:99 chr11 56224778 rs4990196 G A 4888.66 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=498;Dels=0.00;HRun=0;HaplotypeScore=34.68;MQ=93.77;MQ0=0;QD=9.82;SB=-1559.27;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.339G>A;refseq.codingCoordStr_3=c.339G>A;refseq.codonCoord_2=113;refseq.codonCoord_3=113;refseq.end_1=56265073;refseq.end_2=56224778;refseq.end_3=56224778;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=339;refseq.mrnaCoord_3=339;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L113L;refseq.proteinCoordStr_3=p.L113L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=339;refseq.spliceDist_3=339;refseq.start_1=55900549;refseq.start_2=56224778;refseq.start_3=56224778;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:302,193:396:-487.87,-119.29,-1105.06:99 chr11 56224788 rs591369 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=46.69;MQ=94.26;MQ0=0;OQ=2833.11;QD=5.58;SB=-918.25;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.349G>A;refseq.codingCoordStr_3=c.349G>A;refseq.codonCoord_2=117;refseq.codonCoord_3=117;refseq.end_1=56265073;refseq.end_2=56224788;refseq.end_3=56224788;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=349;refseq.mrnaCoord_3=349;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V117M;refseq.proteinCoordStr_3=p.V117M;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=349;refseq.spliceDist_3=349;refseq.start_1=55900549;refseq.start_2=56224788;refseq.start_3=56224788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:307,174:345:-390.57,-103.98,-875.97:99 chr11 56224835 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=766;Dels=0.00;HRun=0;HaplotypeScore=45.73;MQ=96.88;MQ0=0;OQ=15959.38;QD=20.83;RankSumP=0.000704417;SB=-6324.67;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.396C>T;refseq.codingCoordStr_3=c.396C>T;refseq.codonCoord_2=132;refseq.codonCoord_3=132;refseq.end_1=56265073;refseq.end_2=56224835;refseq.end_3=56224835;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=396;refseq.mrnaCoord_3=396;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A132A;refseq.proteinCoordStr_3=p.A132A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_2=396;refseq.spliceDist_3=396;refseq.start_1=55900549;refseq.start_2=56224835;refseq.start_3=56224835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=filterInsoap-gatk GT 0/1 chr11 56224944 . C T 143.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=97.62;MQ0=0;OQ=6816.05;QD=16.04;RankSumP=0.401958;SB=-1922.85;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.505C>T;refseq.codingCoordStr_3=c.505C>T;refseq.codonCoord_2=169;refseq.codonCoord_3=169;refseq.end_1=56265073;refseq.end_2=56224944;refseq.end_3=56224944;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=505;refseq.mrnaCoord_3=505;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R169C;refseq.proteinCoordStr_3=p.R169C;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_2=-414;refseq.spliceDist_3=-414;refseq.start_1=55900549;refseq.start_2=56224944;refseq.start_3=56224944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 0/1 chr11 56224979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=97.00;MQ0=0;OQ=4937.08;QD=12.99;RankSumP=0.199359;SB=-1753.30;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.540G>A;refseq.codingCoordStr_3=c.540G>A;refseq.codonCoord_2=180;refseq.codonCoord_3=180;refseq.end_1=56265073;refseq.end_2=56224979;refseq.end_3=56224979;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=540;refseq.mrnaCoord_3=540;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L180L;refseq.proteinCoordStr_3=p.L180L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_2=-379;refseq.spliceDist_3=-379;refseq.start_1=55900549;refseq.start_2=56224979;refseq.start_3=56224979;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=Intersection GT 1/0 chr11 56224992 . G A 174.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=96.12;MQ0=0;OQ=5518.97;QD=14.92;RankSumP=0.312865;SB=-1939.89;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.553G>A;refseq.codingCoordStr_3=c.553G>A;refseq.codonCoord_2=185;refseq.codonCoord_3=185;refseq.end_1=56265073;refseq.end_2=56224992;refseq.end_3=56224992;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=553;refseq.mrnaCoord_3=553;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E185K;refseq.proteinCoordStr_3=p.E185K;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_2=-366;refseq.spliceDist_3=-366;refseq.start_1=55900549;refseq.start_2=56224992;refseq.start_3=56224992;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=filterInsoap-gatk GT 1/0 chr11 56225016 rs12421330 G T 991.54 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=65.39;MQ=95.33;MQ0=0;QD=2.77;SB=-236.75;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.577G>T;refseq.codingCoordStr_3=c.577G>T;refseq.codonCoord_2=193;refseq.codonCoord_3=193;refseq.end_1=56265073;refseq.end_2=56225016;refseq.end_3=56225016;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=577;refseq.mrnaCoord_3=577;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G193C;refseq.proteinCoordStr_3=p.G193C;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_2=-342;refseq.spliceDist_3=-342;refseq.start_1=55900549;refseq.start_2=56225016;refseq.start_3=56225016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:303,54:349:-207.54,-105.10,-1117.49:99 chr11 56225024 . A G 4786.14 SnpCluster AC=1;AF=0.50;AN=2;DP=363;Dels=0.00;HRun=0;HaplotypeScore=53.74;MQ=94.94;MQ0=0;QD=13.18;SB=-1355.97;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.585A>G;refseq.codingCoordStr_3=c.585A>G;refseq.codonCoord_2=195;refseq.codonCoord_3=195;refseq.end_1=56265073;refseq.end_2=56225024;refseq.end_3=56225024;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=585;refseq.mrnaCoord_3=585;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.K195K;refseq.proteinCoordStr_3=p.K195K;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_2=-334;refseq.spliceDist_3=-334;refseq.start_1=55900549;refseq.start_2=56225024;refseq.start_3=56225024;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:241,121:355:-477.61,-106.91,-1024.04:99 chr11 56225025 . A T 3198.28 SnpCluster AC=1;AF=0.50;AN=2;DP=361;Dels=0.00;HRun=2;HaplotypeScore=52.74;MQ=94.91;MQ0=0;QD=8.86;SB=-1402.98;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.586A>T;refseq.codingCoordStr_3=c.586A>T;refseq.codonCoord_2=196;refseq.codonCoord_3=196;refseq.end_1=56265073;refseq.end_2=56225025;refseq.end_3=56225025;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=586;refseq.mrnaCoord_3=586;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I196F;refseq.proteinCoordStr_3=p.I196F;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_2=-333;refseq.spliceDist_3=-333;refseq.start_1=55900549;refseq.start_2=56225025;refseq.start_3=56225025;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:242,119:351:-428.82,-105.71,-958.67:99 chr11 56225028 . A C 4809.63 SnpCluster AC=1;AF=0.50;AN=2;DP=380;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=95.01;MQ0=0;QD=12.66;SB=-1429.85;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.589A>C;refseq.codingCoordStr_3=c.589A>C;refseq.codonCoord_2=197;refseq.codonCoord_3=197;refseq.end_1=56265073;refseq.end_2=56225028;refseq.end_3=56225028;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=589;refseq.mrnaCoord_3=589;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.M197L;refseq.proteinCoordStr_3=p.M197L;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_2=-330;refseq.spliceDist_3=-330;refseq.start_1=55900549;refseq.start_2=56225028;refseq.start_3=56225028;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:253,126:364:-479.96,-112.96,-905.52:99 chr11 56225069 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=584;Dels=0.00;HRun=1;HaplotypeScore=14.65;MQ=95.89;MQ0=0;OQ=8238.32;QD=14.11;RankSumP=0.232478;SB=-2927.27;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.630A>G;refseq.codingCoordStr_3=c.630A>G;refseq.codonCoord_2=210;refseq.codonCoord_3=210;refseq.end_1=56265073;refseq.end_2=56225069;refseq.end_3=56225069;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=630;refseq.mrnaCoord_3=630;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A210A;refseq.proteinCoordStr_3=p.A210A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=-289;refseq.spliceDist_3=-289;refseq.start_1=55900549;refseq.start_2=56225069;refseq.start_3=56225069;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 0/1 chr11 56225130 . A C 11810.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=842;Dels=0.00;HRun=2;HaplotypeScore=20.88;MQ=95.66;MQ0=0;QD=14.03;RankSumP=0.236529;SB=-3231.64;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.691A>C;refseq.codingCoordStr_3=c.691A>C;refseq.codonCoord_2=231;refseq.codonCoord_3=231;refseq.end_1=56265073;refseq.end_2=56225130;refseq.end_3=56225130;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=691;refseq.mrnaCoord_3=691;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.K231Q;refseq.proteinCoordStr_3=p.K231Q;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_2=-228;refseq.spliceDist_3=-228;refseq.start_1=55900549;refseq.start_2=56225130;refseq.start_3=56225130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=soap-filterIngatk GT 0/1 chr11 56225136 rs10896516 T C 11745.36 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=859;Dels=0.00;HRun=1;HaplotypeScore=18.72;MQ=95.71;MQ0=0;QD=13.67;SB=-3411.32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.697T>C;refseq.codingCoordStr_3=c.697T>C;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.end_1=56265073;refseq.end_2=56225136;refseq.end_3=56225136;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=697;refseq.mrnaCoord_3=697;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y233H;refseq.proteinCoordStr_3=p.Y233H;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=-222;refseq.spliceDist_3=-222;refseq.start_1=55900549;refseq.start_2=56225136;refseq.start_3=56225136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:529,329:805:-1173.54,-242.43,-2171.48:99 chr11 56225137 rs10896517 A G 11373.99 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=857;Dels=0.00;HRun=0;HaplotypeScore=26.49;MQ=95.71;MQ0=0;QD=13.27;SB=-3657.85;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.698A>G;refseq.codingCoordStr_3=c.698A>G;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.end_1=56265073;refseq.end_2=56225137;refseq.end_3=56225137;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=698;refseq.mrnaCoord_3=698;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y233C;refseq.proteinCoordStr_3=p.Y233C;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=-221;refseq.spliceDist_3=-221;refseq.start_1=55900549;refseq.start_2=56225137;refseq.start_3=56225137;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:525,330:801:-1136.40,-241.26,-2083.30:99 chr11 56225213 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=1106;Dels=0.00;HRun=0;HaplotypeScore=25.09;MQ=97.25;MQ0=0;OQ=17143.31;QD=15.50;RankSumP=0.105336;SB=-4315.33;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.774C>T;refseq.codingCoordStr_3=c.774C>T;refseq.codonCoord_2=258;refseq.codonCoord_3=258;refseq.end_1=56265073;refseq.end_2=56225213;refseq.end_3=56225213;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=774;refseq.mrnaCoord_3=774;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y258Y;refseq.proteinCoordStr_3=p.Y258Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=-145;refseq.spliceDist_3=-145;refseq.start_1=55900549;refseq.start_2=56225213;refseq.start_3=56225213;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 0/1 chr11 56225222 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=1017;Dels=0.00;HRun=0;HaplotypeScore=23.45;MQ=96.97;MQ0=0;OQ=15434.26;QD=15.18;RankSumP=0.000125256;SB=-3188.15;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.783C>T;refseq.codingCoordStr_3=c.783C>T;refseq.codonCoord_2=261;refseq.codonCoord_3=261;refseq.end_1=56265073;refseq.end_2=56225222;refseq.end_3=56225222;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=783;refseq.mrnaCoord_3=783;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P261P;refseq.proteinCoordStr_3=p.P261P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_2=-136;refseq.spliceDist_3=-136;refseq.start_1=55900549;refseq.start_2=56225222;refseq.start_3=56225222;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=filterInsoap-gatk GT 0/1 chr11 56225270 . C T 5948.75 SnpCluster AC=1;AF=0.50;AN=2;DP=471;Dels=0.00;HRun=0;HaplotypeScore=12.74;MQ=95.98;MQ0=0;QD=12.63;SB=-1427.55;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.831C>T;refseq.codingCoordStr_3=c.831C>T;refseq.codonCoord_2=277;refseq.codonCoord_3=277;refseq.end_1=56265073;refseq.end_2=56225270;refseq.end_3=56225270;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=831;refseq.mrnaCoord_3=831;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y277Y;refseq.proteinCoordStr_3=p.Y277Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=55900549;refseq.start_2=56225270;refseq.start_3=56225270;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:326,145:467:-593.87,-140.63,-1363.30:99 chr11 56225275 . T A 5144.93 SnpCluster AC=1;AF=0.50;AN=2;DP=419;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=95.49;MQ0=0;QD=12.28;SB=-1416.99;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.836T>A;refseq.codingCoordStr_3=c.836T>A;refseq.codonCoord_2=279;refseq.codonCoord_3=279;refseq.end_1=56265073;refseq.end_2=56225275;refseq.end_3=56225275;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=836;refseq.mrnaCoord_3=836;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V279E;refseq.proteinCoordStr_3=p.V279E;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=-83;refseq.spliceDist_3=-83;refseq.start_1=55900549;refseq.start_2=56225275;refseq.start_3=56225275;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:292,127:416:-513.49,-125.27,-1169.42:99 chr11 56225280 . T C 5156.71 SnpCluster AC=1;AF=0.50;AN=2;DP=410;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=95.66;MQ0=0;QD=12.58;SB=-1476.75;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.841T>C;refseq.codingCoordStr_3=c.841T>C;refseq.codonCoord_2=281;refseq.codonCoord_3=281;refseq.end_1=56265073;refseq.end_2=56225280;refseq.end_3=56225280;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=841;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F281L;refseq.proteinCoordStr_3=p.F281L;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_2=-78;refseq.spliceDist_3=-78;refseq.start_1=55900549;refseq.start_2=56225280;refseq.start_3=56225280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:283,127:402:-514.67,-121.05,-1218.13:99 chr11 56225296 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=384;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=95.97;MQ0=0;OQ=6087.48;QD=15.85;RankSumP=0.270573;SB=-1997.87;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.857T>C;refseq.codingCoordStr_3=c.857T>C;refseq.codonCoord_2=286;refseq.codonCoord_3=286;refseq.end_1=56265073;refseq.end_2=56225296;refseq.end_3=56225296;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=857;refseq.mrnaCoord_3=857;refseq.name2_1=OR8U8;refseq.name2_2=OR9G1;refseq.name2_3=OR9G9;refseq.name_1=NM_001013356;refseq.name_2=NM_001005213;refseq.name_3=NM_001013358;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L286P;refseq.proteinCoordStr_3=p.L286P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=55900549;refseq.start_2=56225296;refseq.start_3=56225296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/0 chr11 56267248 . T C 445.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=99.00;MQ0=0;OQ=5285.99;QD=41.62;RankSumP=1.00000;SB=-1746.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.616A>G;refseq.codonCoord=206;refseq.end=56267248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_001005284;refseq.name2=OR9G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N206D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-369;refseq.start=56267248;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 56513240 . G A 311.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=4.61;MQ=95.94;MQ0=2;OQ=12850.69;QD=41.32;RankSumP=1.00000;SB=-5083.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.276G>A;refseq.codonCoord=92;refseq.end=56513240;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_001005323;refseq.name2=OR5AK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M92I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=276;refseq.start=56513240;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 56513597 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=761;Dels=0.00;HRun=0;HaplotypeScore=11.77;MQ=91.42;MQ0=7;OQ=15193.31;QD=19.96;RankSumP=0.133364;SB=-5023.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.633G>A;refseq.codonCoord=211;refseq.end=56513597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_001005323;refseq.name2=OR5AK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G211G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-298;refseq.start=56513597;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr11 56706257 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.314A>C;refseq.codonCoord=105;refseq.end=56706257;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_001005210;refseq.name2=LRRC55;refseq.positionType=CDS;refseq.proteinCoordStr=p.D105A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=461;refseq.start=56706257;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 56711422 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=2;HaplotypeScore=9.91;MQ=98.53;MQ0=0;OQ=3051.55;QD=15.33;RankSumP=0.432512;SB=-1134.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.918C>T;refseq.codonCoord=306;refseq.end=56711422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_001005210;refseq.name2=LRRC55;refseq.positionType=CDS;refseq.proteinCoordStr=p.F306F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=128;refseq.start=56711422;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 56760920 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=2;HaplotypeScore=3.66;MQ=98.62;MQ0=0;OQ=2511.33;QD=13.72;RankSumP=0.145294;SB=-966.85;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.135C>A;refseq.codonCoord_2=45;refseq.end_1=56760920;refseq.end_2=56760920;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=584;refseq.name2_1=APLNR;refseq.name2_2=APLNR;refseq.name_1=NR_027991;refseq.name_2=NM_005161;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G45G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=584;refseq.spliceDist_2=584;refseq.start_1=56760920;refseq.start_2=56760920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr11 56833927 . G C 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=2;RankSumP=0.0321711;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2834C>G;refseq.codonCoord=945;refseq.end=56833927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2999;refseq.name=NM_033396;refseq.name2=TNKS1BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A945G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=680;refseq.start=56833927;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr11 56834040 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=655;Dels=0.00;HRun=1;HaplotypeScore=18.55;MQ=98.72;MQ0=0;OQ=13280.54;QD=20.28;RankSumP=0.000290985;SB=-5570.39;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2721A>G;refseq.codonCoord=907;refseq.end=56834040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2886;refseq.name=NM_033396;refseq.name2=TNKS1BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q907Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=567;refseq.start=56834040;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/0 chr11 56837773 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=408.98;QD=15.15;RankSumP=0.661873;SB=-95.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.965C>G;refseq.codonCoord=322;refseq.end=56837773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_033396;refseq.name2=TNKS1BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T322S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=167;refseq.start=56837773;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr11 56837805 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.0324439;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.933T>C;refseq.codonCoord=311;refseq.end=56837805;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_033396;refseq.name2=TNKS1BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S311S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=135;refseq.start=56837805;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr11 56857172 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=2.15316e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.374A>C;refseq.codonCoord=125;refseq.end=56857172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_003146;refseq.name2=SSRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D125A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=28;refseq.start=56857172;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 56873847 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.604A>C;refseq.codonCoord=202;refseq.end=56873847;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_002559;refseq.name2=P2RX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T202P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=41;refseq.start=56873847;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 56893947 . G A 121 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=12.47;MQ=98.25;MQ0=0;OQ=2915.26;QD=13.50;RankSumP=0.206826;SB=-560.34;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1095G>A;refseq.codonCoord=365;refseq.end=56893947;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_002559;refseq.name2=P2RX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T365T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=15;refseq.start=56893947;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr11 56894000 . C T 327.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=98.12;MQ0=0;OQ=4709.88;QD=16.70;RankSumP=0.0430105;SB=-1543.48;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1148C>T;refseq.codonCoord=383;refseq.end=56894000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1224;refseq.name=NM_002559;refseq.name2=P2RX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A383V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=68;refseq.start=56894000;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 56903592 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=21.18;MQ=98.32;MQ0=0;OQ=7595.74;QD=34.06;RankSumP=1.00000;SB=-3082.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.326T>C;refseq.codonCoord=109;refseq.end=56903592;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_006093;refseq.name2=PRG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I109T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-50;refseq.start=56903592;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 56903593 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.325A>C;refseq.codonCoord=109;refseq.end=56903593;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_006093;refseq.name2=PRG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I109L;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-51;refseq.start=56903593;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr11 56904751 . A G 403.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2775.95;QD=38.03;RankSumP=1.00000;SB=-913.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.7T>C;refseq.codonCoord=3;refseq.end=56904751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_006093;refseq.name2=PRG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C3R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-55;refseq.start=56904751;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 56911577 . G A 454.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.52;MQ0=0;OQ=5849.21;QD=40.90;RankSumP=1.00000;SB=-2086.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.616C>T;refseq.codonCoord=206;refseq.end=56911577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_002728;refseq.name2=PRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H206Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=56911577;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr11 56911864 . T C 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1104.10;QD=28.31;RankSumP=1.00000;SB=-526.86;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=56911864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_002728;refseq.name2=PRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A183A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=51;refseq.start=56911864;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 56913109 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.316A>C;refseq.codonCoord=106;refseq.end=56913109;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_002728;refseq.name2=PRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T106P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-51;refseq.start=56913109;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 56913981 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=4;HaplotypeScore=4.26;MQ=98.54;MQ0=0;OQ=3919.63;QD=38.05;RankSumP=1.00000;SB=-1736.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.13T>C;refseq.codonCoord=5;refseq.end=56913981;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=87;refseq.name=NM_002728;refseq.name2=PRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L5L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=25;refseq.start=56913981;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr11 57025262 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.271A>C;refseq.codonCoord=91;refseq.end=57025262;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_003627;refseq.name2=SLC43A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-62;refseq.start=57025262;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 57078489 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0659776;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.307C>T;refseq.codingCoordStr_2=c.109C>T;refseq.codonCoord_1=103;refseq.codonCoord_2=37;refseq.end_1=57078489;refseq.end_2=57078489;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=403;refseq.mrnaCoord_2=412;refseq.name2_1=UBE2L6;refseq.name2_2=UBE2L6;refseq.name_1=NM_004223;refseq.name_2=NM_198183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q103*;refseq.proteinCoordStr_2=p.Q37*;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=57078489;refseq.start_2=57078489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr11 57212651 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.322A>C;refseq.codonCoord=108;refseq.end=57212651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_015457;refseq.name2=ZDHHC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T108P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-63;refseq.start=57212651;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 57220076 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=10.33;MQ=98.96;MQ0=0;OQ=2248.78;QD=12.22;RankSumP=0.447453;SB=-1052.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.994T>C;refseq.codonCoord=332;refseq.end=57220076;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2250;refseq.name=NM_015457;refseq.name2=ZDHHC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L332L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-16;refseq.start=57220076;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 57555759 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=611;Dels=0.00;HRun=0;HaplotypeScore=32.14;MQ=98.88;MQ0=0;OQ=11020.95;QD=18.04;RankSumP=0.433813;SB=-4096.71;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.759C>T;refseq.codonCoord_2=253;refseq.end_1=57579907;refseq.end_2=57555759;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=759;refseq.name2_1=OR9Q1;refseq.name2_2=OR6Q1;refseq.name_1=NM_001005212;refseq.name_2=NM_001005186;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S253S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-196;refseq.start_1=57548163;refseq.start_2=57555759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr11 57555947 . G C 193.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=98.63;MQ0=0;OQ=3027.21;QD=20.32;RankSumP=0.244437;SB=-278.09;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.947G>C;refseq.codonCoord_2=316;refseq.end_1=57579907;refseq.end_2=57555947;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=947;refseq.name2_1=OR9Q1;refseq.name2_2=OR6Q1;refseq.name_1=NM_001005212;refseq.name_2=NM_001005186;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G316A;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=57548163;refseq.start_2=57555947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr11 57703840 . C G 332.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=12.39;MQ=98.72;MQ0=0;OQ=7692.66;QD=20.19;RankSumP=0.116099;SB=-2777.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.348C>G;refseq.codonCoord=116;refseq.end=57703840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_001005212;refseq.name2=OR9Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A116A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=362;refseq.start=57703840;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 57715351 . C T 347.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.77;MQ0=0;OQ=7939.72;QD=20.57;RankSumP=0.329364;SB=-2703.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.813C>T;refseq.codonCoord=271;refseq.end=57715351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_001005283;refseq.name2=OR9Q2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D271D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-216;refseq.start=57715351;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 57727771 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=597;Dels=0.00;HRun=2;HaplotypeScore=35.54;MQ=93.68;MQ0=25;OQ=10475.19;QD=17.55;RankSumP=0.285496;SB=-3449.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.459C>T;refseq.codonCoord=153;refseq.end=57727771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_001004459;refseq.name2=OR1S2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F153F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=459;refseq.start=57727771;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 57727777 . G A 120.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=17.96;MQ=95.50;MQ0=13;OQ=10232.55;QD=18.27;RankSumP=0.240554;SB=-3478.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.453C>T;refseq.codonCoord=151;refseq.end=57727777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_001004459;refseq.name2=OR1S2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=453;refseq.start=57727777;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr11 57738805 . A G 233.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=8.21;MQ=98.40;MQ0=0;OQ=5895.38;QD=19.98;RankSumP=0.292322;SB=-1971.11;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.13A>G;refseq.codonCoord=5;refseq.end=57738805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=13;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S5G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=13;refseq.start=57738805;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr11 57739160 . T C 154.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=88.48;MQ0=33;OQ=9449.95;QD=16.55;RankSumP=0.278650;SB=-3788.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.368T>C;refseq.codonCoord=123;refseq.end=57739160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I123T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=368;refseq.start=57739160;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr11 57739196 . A G 138.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=582;Dels=0.00;HRun=0;HaplotypeScore=18.52;MQ=96.50;MQ0=1;OQ=10502.66;QD=18.05;RankSumP=0.461289;SB=-4119.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.404A>G;refseq.codonCoord=135;refseq.end=57739196;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H135R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=404;refseq.start=57739196;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr11 57739302 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=820;Dels=0.00;HRun=1;HaplotypeScore=9.71;MQ=77.74;MQ0=34;OQ=8641.57;QD=10.54;RankSumP=0.144705;SB=-1582.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.510G>T;refseq.codonCoord=170;refseq.end=57739302;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=510;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L170L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-469;refseq.start=57739302;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr11 57739339 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=599;Dels=0.00;HRun=0;HaplotypeScore=10.81;MQ=66.30;MQ0=47;OQ=2303.67;QD=3.85;RankSumP=0.414831;SB=287.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.547A>G;refseq.codonCoord=183;refseq.end=57739339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N183D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-432;refseq.start=57739339;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr11 57739408 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=2.46;MQ=63.43;MQ0=51;OQ=1082.43;QD=2.94;RankSumP=0.220505;SB=-359.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.616T>A;refseq.codonCoord=206;refseq.end=57739408;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L206M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-363;refseq.start=57739408;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr11 57739472 . G T 345.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=91.01;MQ0=4;OQ=4918.39;QD=17.08;RankSumP=0.284045;SB=-1785.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.680G>T;refseq.codonCoord=227;refseq.end=57739472;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S227I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-299;refseq.start=57739472;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr11 57739686 . A G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0716645;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.894A>G;refseq.codonCoord=298;refseq.end=57739686;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I298M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-85;refseq.start=57739686;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr11 57739770 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=609;Dels=0.00;HRun=1;HaplotypeScore=5.97;MQ=48.63;MQ0=158;OQ=8076.27;QD=13.26;RankSumP=0.490701;SB=-3068.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.978A>G;refseq.codonCoord=326;refseq.end=57739770;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_001004458;refseq.name2=OR1S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.*326W;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=57739770;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr11 57752097 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.827A>C;refseq.codonCoord=276;refseq.end=57752097;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_001004471;refseq.name2=OR10Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D276A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-168;refseq.start=57752097;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 57752660 . G A 219.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.77;MQ0=0;OQ=2988.13;QD=17.37;RankSumP=0.414697;SB=-1277.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.264C>T;refseq.codonCoord=88;refseq.end=57752660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_001004471;refseq.name2=OR10Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N88N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=307;refseq.start=57752660;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 57752888 . C G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=106;Dels=0.00;HRun=3;HaplotypeScore=6.69;MQ=97.75;MQ0=0;OQ=3857.20;QD=36.39;RankSumP=1.00000;SB=-901.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.36G>C;refseq.codonCoord=12;refseq.end=57752888;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_001004471;refseq.name2=OR10Q1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E12D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=79;refseq.start=57752888;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 57791119 . C T 165.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=19.86;MQ=98.05;MQ0=0;OQ=5209.97;QD=17.37;RankSumP=0.278472;SB=-1686.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.788G>A;refseq.codonCoord=263;refseq.end=57791119;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_207374;refseq.name2=OR10W1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R263Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-280;refseq.start=57791119;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 57882196 . T C 339.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=98.79;MQ0=0;OQ=8391.52;QD=20.47;RankSumP=0.435862;SB=-2099.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.923A>G;refseq.codonCoord=308;refseq.end=57882196;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_001005489;refseq.name2=OR5B17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y308C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-23;refseq.start=57882196;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr11 57882881 . A T 276.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.66;MQ0=0;OQ=4041.59;QD=22.09;RankSumP=0.293005;SB=-1506.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.238T>A;refseq.codonCoord=80;refseq.end=57882881;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_001005489;refseq.name2=OR5B17;refseq.positionType=CDS;refseq.proteinCoordStr=p.L80I;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=238;refseq.start=57882881;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr11 57926572 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=513;Dels=0.00;HRun=1;HaplotypeScore=11.58;MQ=98.70;MQ0=0;OQ=10292.62;QD=20.06;RankSumP=0.271546;SB=-4273.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.887A>G;refseq.codonCoord=296;refseq.end=57926572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K296R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-59;refseq.start=57926572;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr11 57926601 . C G 186.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=462;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.66;MQ0=0;OQ=9823.20;QD=21.26;RankSumP=0.398741;SB=-3056.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.858G>C;refseq.codonCoord=286;refseq.end=57926601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L286L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-88;refseq.start=57926601;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr11 57926719 . C G 104.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.80;MQ0=0;OQ=5972.08;QD=24.99;RankSumP=0.378144;SB=-2377.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.740G>C;refseq.codonCoord=247;refseq.end=57926719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G247A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-206;refseq.start=57926719;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr11 57926867 . T C 303.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=11.46;MQ=98.92;MQ0=0;OQ=4732.56;QD=20.94;RankSumP=0.499501;SB=-1579.61;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.592A>G;refseq.codonCoord=198;refseq.end=57926867;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I198V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-354;refseq.start=57926867;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 57926918 . C T 158.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=5.49;MQ=98.88;MQ0=0;OQ=8058.48;QD=20.56;RankSumP=0.153251;SB=-2870.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.541G>A;refseq.codonCoord=181;refseq.end=57926918;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A181T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-405;refseq.start=57926918;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr11 57926950 . T C 251.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=0;HaplotypeScore=10.63;MQ=98.84;MQ0=0;OQ=9094.14;QD=20.62;RankSumP=0.273764;SB=-3879.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.509A>G;refseq.codonCoord=170;refseq.end=57926950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N170S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-437;refseq.start=57926950;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr11 57927045 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=499;Dels=0.00;HRun=1;HaplotypeScore=20.79;MQ=98.79;MQ0=0;OQ=8212.01;QD=16.46;RankSumP=0.163363;SB=-3384.60;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.414G>T;refseq.codonCoord=138;refseq.end=57927045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=414;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V138V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=414;refseq.start=57927045;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 57927314 . A G 186.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=4560.80;QD=17.61;RankSumP=0.488621;SB=-1258.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.145T>C;refseq.codonCoord=49;refseq.end=57927314;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_001005469;refseq.name2=OR5B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W49R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=145;refseq.start=57927314;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr11 57946688 . A G 268.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.81;MQ0=0;OQ=1804.19;QD=19.19;RankSumP=0.00785225;SB=-805.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.623T>C;refseq.codonCoord=208;refseq.end=57946688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_001005566;refseq.name2=OR5B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V208A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-375;refseq.start=57946688;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 0/1 chr11 57946712 . A G 195.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=4.35;MQ=98.66;MQ0=0;OQ=2161.10;QD=14.03;RankSumP=0.0411536;SB=-594.31;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.599T>C;refseq.codonCoord=200;refseq.end=57946712;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_001005566;refseq.name2=OR5B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M200T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-399;refseq.start=57946712;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr11 57963779 . C T 95.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=619;Dels=0.00;HRun=0;HaplotypeScore=18.19;MQ=98.63;MQ0=0;OQ=11754.44;QD=18.99;RankSumP=0.00000;SB=-4771.42;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.422G>A;refseq.codonCoord=141;refseq.end=57963779;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_001004733;refseq.name2=OR5B12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C141Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=444;refseq.start=57963779;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 0/1 chr11 57963780 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=622;Dels=0.00;HRun=0;HaplotypeScore=18.71;MQ=98.63;MQ0=0;OQ=24244.55;QD=38.98;RankSumP=1.00000;SB=-11676.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.421T>C;refseq.codonCoord=141;refseq.end=57963780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_001004733;refseq.name2=OR5B12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C141R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=443;refseq.start=57963780;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 58031374 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.781T>C;refseq.codonCoord=261;refseq.end=58031374;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_001005218;refseq.name2=OR5B21;refseq.positionType=CDS;refseq.proteinCoordStr=p.S261P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-150;refseq.start=58031374;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 58075195 . C G 215.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.94;MQ0=0;OQ=3996.32;QD=22.84;RankSumP=0.469651;SB=-1007.41;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.420G>C;refseq.codingCoordStr_2=c.405G>C;refseq.codonCoord_1=140;refseq.codonCoord_2=135;refseq.end_1=58075195;refseq.end_2=58075195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=540;refseq.mrnaCoord_2=550;refseq.name2_1=LPXN;refseq.name2_2=LPXN;refseq.name_1=NM_001143995;refseq.name_2=NM_004811;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L140L;refseq.proteinCoordStr_2=p.L135L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=58075195;refseq.start_2=58075195;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr11 58135000 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.94;MQ0=0;OQ=3094.55;QD=16.91;RankSumP=0.304993;SB=-299.91;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.619A>G;refseq.codonCoord_2=207;refseq.end_1=58135000;refseq.end_2=58135000;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=787;refseq.mrnaCoord_2=787;refseq.name2_1=ZFP91-CNTF;refseq.name2_2=ZFP91;refseq.name_1=NR_024091;refseq.name_2=NM_053023;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S207G;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=58135000;refseq.start_2=58135000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr11 58234660 . T C 187.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=458;Dels=0.00;HRun=0;HaplotypeScore=11.70;MQ=98.51;MQ0=0;OQ=17100.93;QD=37.34;RankSumP=1.00000;SB=-7804.01;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.467A>G;refseq.codingCoordStr_2=c.467A>G;refseq.codonCoord_1=156;refseq.codonCoord_2=156;refseq.end_1=58234660;refseq.end_2=58234660;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=622;refseq.mrnaCoord_2=622;refseq.name2_1=GLYAT;refseq.name2_2=GLYAT;refseq.name_1=NM_005838;refseq.name_2=NM_201648;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N156S;refseq.proteinCoordStr_2=p.N156S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=151;refseq.spliceDist_2=-22;refseq.start_1=58234660;refseq.start_2=58234660;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr11 58248497 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=639;Dels=0.00;HRun=3;HaplotypeScore=17.32;MQ=98.62;MQ0=0;OQ=11552.83;QD=18.08;RankSumP=0.341586;SB=-4552.69;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.49T>A;refseq.codingCoordStr_2=c.49T>A;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=58248497;refseq.end_2=58248497;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=204;refseq.mrnaCoord_2=204;refseq.name2_1=GLYAT;refseq.name2_2=GLYAT;refseq.name_1=NM_005838;refseq.name_2=NM_201648;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S17T;refseq.proteinCoordStr_2=p.S17T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=58248497;refseq.start_2=58248497;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr11 58358885 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=2;HaplotypeScore=3.47;MQ=98.37;MQ0=0;OQ=1968.47;QD=15.14;RankSumP=0.179574;SB=-601.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.478G>A;refseq.codonCoord=160;refseq.end=58358885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_145016;refseq.name2=GLYATL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E160K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=58358885;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr11 58479264 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.446C>A;refseq.codonCoord=149;refseq.end=58479264;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_080661;refseq.name2=GLYATL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T149K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=40;refseq.start=58479264;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr11 58889374 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=8754.23;QD=50.60;RankSumP=1.00000;SB=-1859.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.867G>C;refseq.codonCoord=289;refseq.end=58889374;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_001004729;refseq.name2=OR5AN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L289F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-70;refseq.start=58889374;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr11 58967764 . G A 318.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=98.90;MQ0=0;OQ=8567.62;QD=41.79;RankSumP=1.00000;SB=-2422.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.547G>A;refseq.codonCoord=183;refseq.end=58967764;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_001004728;refseq.name2=OR5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D183N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-402;refseq.start=58967764;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr11 58967841 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=474;Dels=0.00;HRun=1;HaplotypeScore=4.72;MQ=98.73;MQ0=0;OQ=17893.86;QD=37.75;RankSumP=1.00000;SB=-6781.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.624T>C;refseq.codonCoord=208;refseq.end=58967841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_001004728;refseq.name2=OR5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T208T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-325;refseq.start=58967841;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 58981296 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=582;Dels=0.00;HRun=1;HaplotypeScore=18.76;MQ=98.34;MQ0=0;OQ=23893.82;QD=41.05;RankSumP=1.00000;SB=-11146.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.287A>G;refseq.codonCoord=96;refseq.end=58981296;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_001004708;refseq.name2=OR4D6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D96G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=287;refseq.start=58981296;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 58981341 . A C 217.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=510;Dels=0.00;HRun=0;HaplotypeScore=14.61;MQ=98.61;MQ0=0;OQ=8270.65;QD=16.22;RankSumP=0.195128;SB=-3208.47;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.332A>C;refseq.codonCoord=111;refseq.end=58981341;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001004708;refseq.name2=OR4D6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D111A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=332;refseq.start=58981341;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 59028213 . T C 248.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=588;Dels=0.00;HRun=0;HaplotypeScore=13.15;MQ=98.42;MQ0=0;OQ=12257.91;QD=20.85;RankSumP=0.0311229;SB=-3812.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.589T>C;refseq.codonCoord=197;refseq.end=59028213;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_001004706;refseq.name2=OR4D11;refseq.positionType=CDS;refseq.proteinCoordStr=p.F197L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-348;refseq.start=59028213;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr11 59237527 . T C 301.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.73;MQ0=0;OQ=4882.14;QD=37.55;RankSumP=1.00000;SB=-1821.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.368A>G;refseq.codonCoord=123;refseq.end=59237527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_001005324;refseq.name2=OR10V1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q123R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=368;refseq.start=59237527;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 59367143 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.304T>C;refseq.codonCoord=102;refseq.end=59367143;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_005142;refseq.name2=GIF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=48;refseq.start=59367143;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 59380009 . G A 341 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=98.76;MQ0=0;OQ=6081.01;QD=18.21;RankSumP=0.199992;SB=-2535.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.846C>T;refseq.codonCoord=282;refseq.end=59380009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_001062;refseq.name2=TCN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S282S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-92;refseq.start=59380009;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr11 59593673 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1063;Dels=0.00;HRun=0;HaplotypeScore=18.01;MQ=98.67;MQ0=0;OQ=19498.29;QD=18.34;RankSumP=0.385912;SB=-8138.40;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.195C>T;refseq.codingCoordStr_2=c.426C>T;refseq.codingCoordStr_3=c.564C>T;refseq.codonCoord_1=65;refseq.codonCoord_2=142;refseq.codonCoord_3=188;refseq.end_1=59593673;refseq.end_2=59593673;refseq.end_3=59593673;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=554;refseq.mrnaCoord_3=692;refseq.name2_1=MS4A3;refseq.name2_2=MS4A3;refseq.name2_3=MS4A3;refseq.name_1=NM_001031666;refseq.name_2=NM_001031809;refseq.name_3=NM_006138;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T65T;refseq.proteinCoordStr_2=p.T142T;refseq.proteinCoordStr_3=p.T188T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=59593673;refseq.start_2=59593673;refseq.start_3=59593673;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 0/1 chr11 59697175 . T A 250.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.71;MQ0=0;OQ=3676.50;QD=38.70;RankSumP=1.00000;SB=-587.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.553A>T;refseq.codingCoordStr_2=c.449A>T;refseq.codingCoordStr_3=c.553A>T;refseq.codonCoord_1=185;refseq.codonCoord_2=150;refseq.codonCoord_3=185;refseq.end_1=59697175;refseq.end_2=59697175;refseq.end_3=59697175;refseq.frame_1=0;refseq.frame_2=1;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=791;refseq.mrnaCoord_2=687;refseq.mrnaCoord_3=791;refseq.name2_1=MS4A6A;refseq.name2_2=MS4A6A;refseq.name2_3=MS4A6A;refseq.name_1=NM_022349;refseq.name_2=NM_152851;refseq.name_3=NM_152852;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T185S;refseq.proteinCoordStr_2=p.N150I;refseq.proteinCoordStr_3=p.T185S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=59697175;refseq.start_2=59697175;refseq.start_3=59697175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ile;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=ATC;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr11 59702321 . T C 239.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.79;MQ0=0;OQ=14692.05;QD=42.71;RankSumP=1.00000;SB=-6907.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.327A>G;refseq.codingCoordStr_2=c.327A>G;refseq.codingCoordStr_3=c.327A>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.end_1=59702321;refseq.end_2=59702321;refseq.end_3=59702321;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=565;refseq.mrnaCoord_2=565;refseq.mrnaCoord_3=565;refseq.name2_1=MS4A6A;refseq.name2_2=MS4A6A;refseq.name2_3=MS4A6A;refseq.name_1=NM_022349;refseq.name_2=NM_152851;refseq.name_3=NM_152852;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L109L;refseq.proteinCoordStr_2=p.L109L;refseq.proteinCoordStr_3=p.L109L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=59702321;refseq.start_2=59702321;refseq.start_3=59702321;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr11 59830173 . C T 207.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=1;HaplotypeScore=7.53;MQ=80.97;MQ0=30;OQ=19241.81;QD=38.33;RankSumP=1.00000;SB=-5679.00;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.514C>T;refseq.codingCoordStr_2=c.571C>T;refseq.codonCoord_1=172;refseq.codonCoord_2=191;refseq.end_1=59830173;refseq.end_2=59830173;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=657;refseq.mrnaCoord_2=581;refseq.name2_1=MS4A4A;refseq.name2_2=MS4A4A;refseq.name_1=NM_024021;refseq.name_2=NM_148975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L172L;refseq.proteinCoordStr_2=p.L191L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=59830173;refseq.start_2=59830173;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr11 59909139 . T A 413.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=7867.73;QD=40.98;RankSumP=1.00000;SB=-2903.34;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_3=c.150T>A;refseq.codingCoordStr_4=c.150T>A;refseq.codonCoord_3=50;refseq.codonCoord_4=50;refseq.end_1=59910755;refseq.end_2=59910755;refseq.end_3=59909139;refseq.end_4=59909139;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=343;refseq.mrnaCoord_4=295;refseq.name2_1=MS4A7;refseq.name2_2=MS4A7;refseq.name2_3=MS4A7;refseq.name2_4=MS4A7;refseq.name_1=NM_206938;refseq.name_2=NM_206940;refseq.name_3=NM_021201;refseq.name_4=NM_206939;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T50T;refseq.proteinCoordStr_4=p.T50T;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.start_1=59907348;refseq.start_2=59907348;refseq.start_3=59909139;refseq.start_4=59909139;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/1 chr11 59909160 . G A 338.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.51;MQ0=0;OQ=7880.82;QD=40.00;RankSumP=1.00000;SB=-3802.00;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_3=c.171G>A;refseq.codingCoordStr_4=c.171G>A;refseq.codonCoord_3=57;refseq.codonCoord_4=57;refseq.end_1=59910755;refseq.end_2=59910755;refseq.end_3=59909160;refseq.end_4=59909160;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=364;refseq.mrnaCoord_4=316;refseq.name2_1=MS4A7;refseq.name2_2=MS4A7;refseq.name2_3=MS4A7;refseq.name2_4=MS4A7;refseq.name_1=NM_206938;refseq.name_2=NM_206940;refseq.name_3=NM_021201;refseq.name_4=NM_206939;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.L57L;refseq.proteinCoordStr_4=p.L57L;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=59907348;refseq.start_2=59907348;refseq.start_3=59909160;refseq.start_4=59909160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=Intersection GT 1/1 chr11 59921929 . T G 16 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.167T>G;refseq.codingCoordStr_2=c.167T>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.end_1=59921929;refseq.end_2=59921929;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=732;refseq.name2_1=MS4A14;refseq.name2_2=MS4A14;refseq.name_1=NM_001079692;refseq.name_2=NM_032597;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I56S;refseq.proteinCoordStr_2=p.I56S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=59921929;refseq.start_2=59921929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT 1/1 chr11 59921932 . T G 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.682540;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.170T>G;refseq.codingCoordStr_2=c.170T>G;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=59921932;refseq.end_2=59921932;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=735;refseq.name2_1=MS4A14;refseq.name2_2=MS4A14;refseq.name_1=NM_001079692;refseq.name_2=NM_032597;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V57G;refseq.proteinCoordStr_2=p.V57G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=59921932;refseq.start_2=59921932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 1/0 chr11 59939546 . A T 261.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=9398.69;QD=38.84;RankSumP=1.00000;SB=-4476.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.478A>T;refseq.codingCoordStr_2=c.529A>T;refseq.codonCoord_1=160;refseq.codonCoord_2=177;refseq.end_1=59939546;refseq.end_2=59939546;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1043;refseq.mrnaCoord_2=1094;refseq.name2_1=MS4A14;refseq.name2_2=MS4A14;refseq.name_1=NM_001079692;refseq.name_2=NM_032597;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N160Y;refseq.proteinCoordStr_2=p.N177Y;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=59939546;refseq.start_2=59939546;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr11 59940767 . G A 419.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=5204.87;QD=43.02;RankSumP=1.00000;SB=-2073.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1699G>A;refseq.codingCoordStr_2=c.1750G>A;refseq.codonCoord_1=567;refseq.codonCoord_2=584;refseq.end_1=59940767;refseq.end_2=59940767;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2264;refseq.mrnaCoord_2=2315;refseq.name2_1=MS4A14;refseq.name2_2=MS4A14;refseq.name_1=NM_001079692;refseq.name_2=NM_032597;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G567R;refseq.proteinCoordStr_2=p.G584R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-1038;refseq.spliceDist_2=-1038;refseq.start_1=59940767;refseq.start_2=59940767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr11 59954904 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=2;HaplotypeScore=4.47;MQ=98.77;MQ0=0;OQ=13896.55;QD=43.16;RankSumP=1.00000;SB=-4381.05;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.213C>T;refseq.codonCoord=71;refseq.end=59954904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_023945;refseq.name2=MS4A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T71T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=60;refseq.start=59954904;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr11 60042140 . G A 111.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.60;MQ0=0;OQ=1839.44;QD=14.83;RankSumP=0.302989;SB=-688.58;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.8G>A;refseq.codingCoordStr_2=c.8G>A;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=60042140;refseq.end_2=60042140;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=331;refseq.mrnaCoord_2=331;refseq.name2_1=MS4A13;refseq.name2_2=MS4A13;refseq.name_1=NM_001012417;refseq.name_2=NM_001100909;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3D;refseq.proteinCoordStr_2=p.G3D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=60042140;refseq.start_2=60042140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr11 60042151 . A G 405.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.63;MQ0=0;OQ=5052.90;QD=38.28;RankSumP=1.00000;SB=-2216.23;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.19A>G;refseq.codingCoordStr_2=c.19A>G;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=60042151;refseq.end_2=60042151;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=342;refseq.mrnaCoord_2=342;refseq.name2_1=MS4A13;refseq.name2_2=MS4A13;refseq.name_1=NM_001012417;refseq.name_2=NM_001100909;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I7V;refseq.proteinCoordStr_2=p.I7V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=60042151;refseq.start_2=60042151;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr11 60047989 . C T 362.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=98.72;MQ0=0;OQ=6066.26;QD=43.33;RankSumP=1.00000;SB=-2903.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.173C>T;refseq.codingCoordStr_2=c.173C>T;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=60047989;refseq.end_2=60047989;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=496;refseq.mrnaCoord_2=496;refseq.name2_1=MS4A13;refseq.name2_2=MS4A13;refseq.name_1=NM_001012417;refseq.name_2=NM_001100909;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P58L;refseq.proteinCoordStr_2=p.P58L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=60047989;refseq.start_2=60047989;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr11 60366632 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=9.46;MQ=97.88;MQ0=0;OQ=815.52;QD=14.31;RankSumP=0.640894;SB=-386.98;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.459G>C;refseq.codonCoord=153;refseq.end=60366632;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_024098;refseq.name2=CCDC86;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q153H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-300;refseq.start=60366632;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr11 60377161 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=7.70;MQ=98.49;MQ0=0;OQ=2600.63;QD=27.09;RankSumP=1.00000;SB=-778.98;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.611T>C;refseq.codonCoord=204;refseq.end=60377161;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_004778;refseq.name2=GPR44;refseq.positionType=CDS;refseq.proteinCoordStr=p.V204A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=620;refseq.start=60377161;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 60377166 . C G 136 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=6.86;MQ=98.52;MQ0=0;OQ=3972.49;QD=38.95;RankSumP=1.00000;SB=-1204.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.606G>C;refseq.codonCoord=202;refseq.end=60377166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=718;refseq.name=NM_004778;refseq.name2=GPR44;refseq.positionType=CDS;refseq.proteinCoordStr=p.R202R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=615;refseq.start=60377166;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 60391619 . A G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500002;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.9A>G;refseq.codonCoord=3;refseq.end=60391619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=29;refseq.name=NM_207341;refseq.name2=ZP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=29;refseq.start=60391619;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 60391667 . T C 77.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.29;MQ0=0;OQ=1441.89;QD=30.04;RankSumP=1.00000;SB=-543.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=60391667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_207341;refseq.name2=ZP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V19V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=77;refseq.start=60391667;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr11 60393740 . C T 364.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.87;MQ0=0;OQ=6369.69;QD=35.19;RankSumP=1.00000;SB=-2405.61;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=60393740;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_207341;refseq.name2=ZP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T158I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=155;refseq.start=60393740;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 60395046 . A G 342.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=98.50;MQ0=0;OQ=4975.99;QD=39.18;RankSumP=1.00000;SB=-2132.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.867A>G;refseq.codonCoord=289;refseq.end=60395046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_207341;refseq.name2=ZP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V289V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=41;refseq.start=60395046;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 60395303 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1052T>G;refseq.codonCoord=351;refseq.end=60395303;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1072;refseq.name=NM_207341;refseq.name2=ZP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V351G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=60395303;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 60422917 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.57;MQ0=0;OQ=913.56;QD=11.56;RankSumP=0.0366557;SB=-286.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1047C>T;refseq.codonCoord=349;refseq.end=60422917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1254;refseq.name=NM_014502;refseq.name2=PRPF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S349S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=60422917;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr11 60423322 . T G 67 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.07027e-05;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.859A>C;refseq.codonCoord=287;refseq.end=60423322;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_014502;refseq.name2=PRPF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T287P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=31;refseq.start=60423322;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr11 60427798 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.131A>C;refseq.codonCoord=44;refseq.end=60427798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_014502;refseq.name2=PRPF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.N44T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-39;refseq.start=60427798;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 60446021 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=98.43;MQ0=0;OQ=685.95;QD=8.26;RankSumP=0.252253;SB=-359.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.540T>C;refseq.codonCoord=180;refseq.end=60446021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_024092;refseq.name2=TMEM109;refseq.positionType=CDS;refseq.proteinCoordStr=p.P180P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=200;refseq.start=60446021;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr11 60451419 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.268G>C;refseq.codingCoordStr_2=c.268G>C;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=60451419;refseq.end_2=60451419;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=461;refseq.mrnaCoord_2=461;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A90P;refseq.proteinCoordStr_2=p.A90P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=60451419;refseq.start_2=60451419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr11 60451877 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=226.44;QD=7.81;RankSumP=0.642981;SB=-60.71;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.504C>A;refseq.codingCoordStr_2=c.504C>A;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.end_1=60451877;refseq.end_2=60451877;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=697;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A168A;refseq.proteinCoordStr_2=p.A168A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=60451877;refseq.start_2=60451877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr11 60454630 . G A 160.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.34;MQ0=0;OQ=1108.11;QD=13.68;RankSumP=0.242169;SB=-391.70;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.939G>A;refseq.codingCoordStr_2=c.939G>A;refseq.codonCoord_1=313;refseq.codonCoord_2=313;refseq.end_1=60454630;refseq.end_2=60454630;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1132;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L313L;refseq.proteinCoordStr_2=p.L313L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=60454630;refseq.start_2=60454630;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr11 60457712 . C G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.83;MQ0=0;OQ=224.85;QD=5.48;RankSumP=0.494044;SB=-87.24;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1482C>G;refseq.codingCoordStr_2=c.1479C>G;refseq.codonCoord_1=494;refseq.codonCoord_2=493;refseq.end_1=60457712;refseq.end_2=60457712;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1675;refseq.mrnaCoord_2=1672;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P494P;refseq.proteinCoordStr_2=p.P493P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=60457712;refseq.start_2=60457712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr11 60460235 . A C 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.500017;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2355A>C;refseq.codingCoordStr_2=c.2352A>C;refseq.codonCoord_1=785;refseq.codonCoord_2=784;refseq.end_1=60460235;refseq.end_2=60460235;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2548;refseq.mrnaCoord_2=2545;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P785P;refseq.proteinCoordStr_2=p.P784P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=324;refseq.spliceDist_2=324;refseq.start_1=60460235;refseq.start_2=60460235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr11 60460789 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=97.86;MQ0=0;OQ=525.68;QD=11.95;RankSumP=0.630656;SB=-111.52;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2909C>T;refseq.codingCoordStr_2=c.2906C>T;refseq.codonCoord_1=970;refseq.codonCoord_2=969;refseq.end_1=60460789;refseq.end_2=60460789;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3102;refseq.mrnaCoord_2=3099;refseq.name2_1=TMEM132A;refseq.name2_2=TMEM132A;refseq.name_1=NM_017870;refseq.name_2=NM_178031;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A970V;refseq.proteinCoordStr_2=p.A969V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-419;refseq.spliceDist_2=-419;refseq.start_1=60460789;refseq.start_2=60460789;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr11 60462030 . A G 280.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=98.39;MQ0=0;OQ=3992.21;QD=34.42;RankSumP=1.00000;SB=-1714.98;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1479T>C;refseq.codonCoord_2=493;refseq.end_1=60462030;refseq.end_2=60462030;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1544;refseq.mrnaCoord_2=1713;refseq.name2_1=SLC15A3;refseq.name2_2=SLC15A3;refseq.name_1=NR_027391;refseq.name_2=NM_016582;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G493G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=60462030;refseq.start_2=60462030;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr11 60465168 . A C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.500000;SecondBestBaseQ=12;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1276+2;refseq.end_1=60466072;refseq.end_2=60465168;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=false;refseq.name2_1=SLC15A3;refseq.name2_2=SLC15A3;refseq.name_1=NR_027391;refseq.name_2=NM_016582;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=60463697;refseq.start_2=60465168;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=soap GT 0/1 chr11 60532785 . C T 185.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.23;MQ0=0;OQ=481.38;QD=16.05;RankSumP=0.125886;SB=-229.92;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.673C>T;refseq.codonCoord=225;refseq.end=60532785;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=896;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R225W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-109;refseq.start=60532785;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr11 60532882 . C T 155.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=98.73;MQ0=0;OQ=607.14;QD=14.46;RankSumP=0.429293;SB=-203.18;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.770C>T;refseq.codonCoord=257;refseq.end=60532882;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A257V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=60532882;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 60533649 . G A 176.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.77;MQ0=0;OQ=2270.66;QD=17.88;RankSumP=0.00122293;SB=-650.13;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.811G>A;refseq.codonCoord=271;refseq.end=60533649;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A271T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=30;refseq.start=60533649;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 1/0 chr11 60533671 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.833T>G;refseq.codonCoord=278;refseq.end=60533671;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V278G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=52;refseq.start=60533671;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 60541928 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=4;HaplotypeScore=3.67;MQ=98.80;MQ0=0;OQ=2367.34;QD=12.66;RankSumP=0.137626;SB=-889.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1704A>G;refseq.codonCoord=568;refseq.end=60541928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1927;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S568S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=122;refseq.start=60541928;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr11 60542039 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=860.83;QD=14.84;RankSumP=0.588239;SB=-378.33;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1815C>T;refseq.codonCoord=605;refseq.end=60542039;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2038;refseq.name=NM_006725;refseq.name2=CD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A605A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-23;refseq.start=60542039;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 60649182 . A G 203.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.82;MQ0=0;OQ=6294.31;QD=34.21;RankSumP=1.00000;SB=-1399.22;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1382A>G;refseq.codonCoord=461;refseq.end=60649182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1485;refseq.name=NM_014207;refseq.name2=CD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H461R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-18;refseq.start=60649182;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 60649811 . C T 341.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=98.37;MQ0=0;OQ=9240.90;QD=40.71;RankSumP=1.00000;SB=-3572.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1412C>T;refseq.codonCoord=471;refseq.end=60649811;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_014207;refseq.name2=CD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A471V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=13;refseq.start=60649811;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 60656343 . A G 183.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=99.00;MQ0=0;OQ=748.07;QD=31.17;RankSumP=1.00000;SB=-306.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.593T>C;refseq.codonCoord=198;refseq.end=60656343;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_017966;refseq.name2=VPS37C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L198S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=245;refseq.start=60656343;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr11 60727617 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=395;Dels=0.00;HRun=1;HaplotypeScore=28.28;MQ=33.58;MQ0=104;OQ=5600.92;QD=14.18;RankSumP=0.0560877;SB=-2262.48;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5A>G;refseq.codonCoord=2;refseq.end=60727617;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=58;refseq.name=NM_001079807;refseq.name2=PGA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-52;refseq.start=60727617;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr11 60727645 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=35.63;MQ=33.25;MQ0=117;OQ=140.33;QD=0.35;RankSumP=0.0917272;SB=53.85;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.33A>G;refseq.codonCoord=11;refseq.end=60727645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=86;refseq.name=NM_001079807;refseq.name2=PGA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A11A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-24;refseq.start=60727645;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 0/1 chr11 60805915 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.706T>C;refseq.codonCoord=236;refseq.end=60805915;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=985;refseq.name=NM_152718;refseq.name2=VWCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S236P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=48;refseq.start=60805915;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 60863468 . G C 120.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.08;MQ0=0;OQ=308.54;QD=34.28;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.471G>C;refseq.codonCoord=157;refseq.end=60863468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_015533;refseq.name2=DAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T157T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-16;refseq.start=60863468;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr11 60865550 . G A 290.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=325.61;QD=36.18;RankSumP=1.00000;SB=-179.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.553G>A;refseq.codonCoord=185;refseq.end=60865550;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_015533;refseq.name2=DAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A185T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-13;refseq.start=60865550;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr11 60867922 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=98.67;MQ0=0;OQ=2126.65;QD=19.69;RankSumP=0.346138;SB=-847.12;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1001C>G;refseq.codonCoord=334;refseq.end=60867922;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1258;refseq.name=NM_015533;refseq.name2=DAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A334G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=19;refseq.start=60867922;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr11 60869378 . C T 324.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=98.89;MQ0=0;OQ=4496.14;QD=38.43;RankSumP=1.00000;SB=-1551.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1311C>T;refseq.codonCoord=437;refseq.end=60869378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1568;refseq.name=NM_015533;refseq.name2=DAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V437V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-37;refseq.start=60869378;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 60869565 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1403T>C;refseq.codonCoord=468;refseq.end=60869565;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1660;refseq.name=NM_015533;refseq.name2=DAK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L468P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-49;refseq.start=60869565;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 60892728 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.460C>G;refseq.codonCoord_2=154;refseq.end_1=60892728;refseq.end_2=60892728;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=902;refseq.mrnaCoord_2=1019;refseq.name2_1=TMEM138;refseq.name2_2=TMEM138;refseq.name_1=NR_028473;refseq.name_2=NM_016464;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R154G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.start_1=60892728;refseq.start_2=60892728;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr11 60935861 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=13.96;MQ=98.50;MQ0=0;OQ=2131.65;QD=13.41;RankSumP=0.151241;SB=-900.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1209C>T;refseq.codingCoordStr_2=c.1182C>T;refseq.codingCoordStr_3=c.1338C>T;refseq.codonCoord_1=403;refseq.codonCoord_2=394;refseq.codonCoord_3=446;refseq.end_1=60935861;refseq.end_2=60935861;refseq.end_3=60935861;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=1316;refseq.mrnaCoord_3=1419;refseq.name2_1=CPSF7;refseq.name2_2=CPSF7;refseq.name2_3=CPSF7;refseq.name_1=NM_001136040;refseq.name_2=NM_001142565;refseq.name_3=NM_024811;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I403I;refseq.proteinCoordStr_2=p.I394I;refseq.proteinCoordStr_3=p.I446I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=60935861;refseq.start_2=60935861;refseq.start_3=60935861;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr11 61005959 . C A 334.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.41;MQ0=0;OQ=4191.93;QD=20.35;RankSumP=0.242559;SB=-1379.19;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.102C>A;refseq.codingCoordStr_2=c.102C>A;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=61005959;refseq.end_2=61005959;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=234;refseq.mrnaCoord_2=234;refseq.name2_1=C11orf66;refseq.name2_2=C11orf66;refseq.name_1=NM_001170753;refseq.name_2=NM_145017;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T34T;refseq.proteinCoordStr_2=p.T34T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=61005959;refseq.start_2=61005959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr11 61244266 . G A 340.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.63;MQ0=0;OQ=5514.34;QD=21.05;RankSumP=0.117666;SB=-1653.85;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.63G>A;refseq.codonCoord=21;refseq.end=61244266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_006133;refseq.name2=DAGLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P21P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-33;refseq.start=61244266;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr11 61261744 . G A 281.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=6.06;MQ=98.26;MQ0=0;OQ=5283.49;QD=36.69;RankSumP=1.00000;SB=-2453.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1524G>A;refseq.codonCoord=508;refseq.end=61261744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1635;refseq.name=NM_006133;refseq.name2=DAGLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A508A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=61261744;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 61295596 . C G 99.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.26;MQ0=0;OQ=584.42;QD=13.59;RankSumP=0.589309;SB=-182.83;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.789C>G;refseq.codingCoordStr_2=c.762C>G;refseq.codonCoord_1=263;refseq.codonCoord_2=254;refseq.end_1=61295596;refseq.end_2=61295596;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=797;refseq.name2_1=C11orf9;refseq.name2_2=C11orf9;refseq.name_1=NM_001127392;refseq.name_2=NM_013279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P263P;refseq.proteinCoordStr_2=p.P254P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=61295596;refseq.start_2=61295596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr11 61301360 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1639C>G;refseq.codingCoordStr_2=c.1612C>G;refseq.codonCoord_1=547;refseq.codonCoord_2=538;refseq.end_1=61301360;refseq.end_2=61301360;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1735;refseq.mrnaCoord_2=1647;refseq.name2_1=C11orf9;refseq.name2_2=C11orf9;refseq.name_1=NM_001127392;refseq.name_2=NM_013279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R547G;refseq.proteinCoordStr_2=p.R538G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=61301360;refseq.start_2=61301360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 61307932 . T C 297.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=4.35;MQ=98.17;MQ0=0;OQ=2020.78;QD=16.17;RankSumP=0.150595;SB=-998.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.3153T>C;refseq.codingCoordStr_2=c.3033T>C;refseq.codonCoord_1=1051;refseq.codonCoord_2=1011;refseq.end_1=61307932;refseq.end_2=61307932;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3249;refseq.mrnaCoord_2=3068;refseq.name2_1=C11orf9;refseq.name2_2=C11orf9;refseq.name_1=NM_001127392;refseq.name_2=NM_013279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1051S;refseq.proteinCoordStr_2=p.S1011S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=61307932;refseq.start_2=61307932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr11 61403556 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=2.31184e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.326C>G;refseq.codonCoord=109;refseq.end=61403556;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_021727;refseq.name2=FADS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A109G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=61403556;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 61415376 . C T 5.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=78.00;QD=26.00;RankSumP=1.00000;SB=-51.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.54G>A;refseq.codonCoord=18;refseq.end=61415376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_021727;refseq.name2=FADS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-160;refseq.start=61415376;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/1 chr11 61430676 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=3.09124e-09;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.495A>C;refseq.codonCoord=165;refseq.end=61430676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_013401;refseq.name2=RAB3IL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T165T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=57;refseq.start=61430676;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 61430694 . C T 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=97.21;MQ0=0;OQ=2229.64;QD=27.53;RankSumP=1.00000;SB=-305.39;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.477G>A;refseq.codonCoord=159;refseq.end=61430694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_013401;refseq.name2=RAB3IL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T159T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=39;refseq.start=61430694;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 61486612 . G A 350.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.33;MQ0=0;OQ=4299.74;QD=37.39;RankSumP=1.00000;SB=-2009.41;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1230G>A;refseq.codingCoordStr_2=c.1410G>A;refseq.codonCoord_1=410;refseq.codonCoord_2=470;refseq.end_1=61486612;refseq.end_2=61486612;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1802;refseq.mrnaCoord_2=1990;refseq.name2_1=BEST1;refseq.name2_2=BEST1;refseq.name_1=NM_001139443;refseq.name_2=NM_004183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T410T;refseq.proteinCoordStr_2=p.T470T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=310;refseq.spliceDist_2=310;refseq.start_1=61486612;refseq.start_2=61486612;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr11 61652317 . A G 184.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=9.42;MQ=98.48;MQ0=0;OQ=3993.99;QD=24.50;RankSumP=1.00000;SB=-1129.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.108A>G;refseq.codingCoordStr_2=c.108A>G;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.end_1=61652317;refseq.end_2=61652317;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=310;refseq.mrnaCoord_2=310;refseq.name2_1=INCENP;refseq.name2_2=INCENP;refseq.name_1=NM_001040694;refseq.name_2=NM_020238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E36E;refseq.proteinCoordStr_2=p.E36E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=61652317;refseq.start_2=61652317;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr11 61653935 . C T 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=27.85;MQ=96.22;MQ0=0;OQ=7727.50;QD=30.30;RankSumP=1.00000;SB=-1043.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.360C>T;refseq.codingCoordStr_2=c.360C>T;refseq.codonCoord_1=120;refseq.codonCoord_2=120;refseq.end_1=61653935;refseq.end_2=61653935;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=562;refseq.mrnaCoord_2=562;refseq.name2_1=INCENP;refseq.name2_2=INCENP;refseq.name_1=NM_001040694;refseq.name_2=NM_020238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V120V;refseq.proteinCoordStr_2=p.V120V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=61653935;refseq.start_2=61653935;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr11 61662950 . T C 361.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=2610.16;QD=36.76;RankSumP=1.00000;SB=-925.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1188T>C;refseq.codingCoordStr_2=c.1188T>C;refseq.codonCoord_1=396;refseq.codonCoord_2=396;refseq.end_1=61662950;refseq.end_2=61662950;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1390;refseq.mrnaCoord_2=1390;refseq.name2_1=INCENP;refseq.name2_2=INCENP;refseq.name_1=NM_001040694;refseq.name_2=NM_020238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N396N;refseq.proteinCoordStr_2=p.N396N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=61662950;refseq.start_2=61662950;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr11 61669772 . G T 245.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.12;MQ0=0;OQ=483.78;QD=34.56;RankSumP=1.00000;SB=-175.79;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1932G>T;refseq.codingCoordStr_2=c.1920G>T;refseq.codonCoord_1=644;refseq.codonCoord_2=640;refseq.end_1=61669772;refseq.end_2=61669772;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2134;refseq.mrnaCoord_2=2122;refseq.name2_1=INCENP;refseq.name2_2=INCENP;refseq.name_1=NM_001040694;refseq.name_2=NM_020238;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E644D;refseq.proteinCoordStr_2=p.E640D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=61669772;refseq.start_2=61669772;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr11 61795018 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.38962e-06;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.145T>G;refseq.codonCoord=49;refseq.end=61795018;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_002411;refseq.name2=SCGB2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F49V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=90;refseq.start=61795018;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr11 62049458 . G T 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=2;HaplotypeScore=21.32;MQ=90.09;MQ0=0;OQ=20677.20;QD=37.73;RankSumP=1.00000;SB=-10040.07;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.9007C>A;refseq.codonCoord_2=3003;refseq.end_1=62059040;refseq.end_2=62049458;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=9307;refseq.name2_1=AHNAK;refseq.name2_2=AHNAK;refseq.name_1=NM_024060;refseq.name_2=NM_001620;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q3003K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=8665;refseq.start_1=62015890;refseq.start_2=62049458;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr11 62050524 . G A 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=974;Dels=0.00;HRun=0;HaplotypeScore=33.63;MQ=93.03;MQ0=1;OQ=38956.89;QD=40.00;RankSumP=1.00000;SB=-18782.76;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.7941C>T;refseq.codonCoord_2=2647;refseq.end_1=62059040;refseq.end_2=62050524;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=8241;refseq.name2_1=AHNAK;refseq.name2_2=AHNAK;refseq.name_1=NM_024060;refseq.name_2=NM_001620;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S2647S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=7599;refseq.start_1=62015890;refseq.start_2=62050524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=soap-filterIngatk GT 1/1 chr11 62051293 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=7.96111e-08;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.7172T>G;refseq.codonCoord_2=2391;refseq.end_1=62059040;refseq.end_2=62051293;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=7472;refseq.name2_1=AHNAK;refseq.name2_2=AHNAK;refseq.name_1=NM_024060;refseq.name_2=NM_001620;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L2391R;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_2=6830;refseq.start_1=62015890;refseq.start_2=62051293;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=FilteredInAll GT 0/1 chr11 62100192 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=2.24095e-08;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1689C>G;refseq.codonCoord=563;refseq.end=62100192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1727;refseq.name=NM_022830;refseq.name2=TUT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G563G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=101;refseq.start=62100192;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 62102676 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0773441;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1207C>A;refseq.codonCoord=403;refseq.end=62102676;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_022830;refseq.name2=TUT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R403R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-68;refseq.start=62102676;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr11 62120837 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.730G>A;refseq.codonCoord=244;refseq.end=62120837;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_004739;refseq.name2=MTA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D244N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=37;refseq.start=62120837;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr11 62120838 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.729C>A;refseq.codonCoord=243;refseq.end=62120838;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_004739;refseq.name2=MTA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y243*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=36;refseq.start=62120838;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr11 62135236 . G A 157.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.31;MQ0=0;OQ=1005.70;QD=18.29;RankSumP=0.0788092;SB=-409.45;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=62135236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_153265;refseq.name2=EML3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S117S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-102;refseq.start=62135236;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr11 62135377 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.02;HRun=2;HaplotypeScore=7.85;MQ=97.29;MQ0=0;OQ=589.13;QD=14.37;RankSumP=0.353890;SB=-219.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.210A>G;refseq.codonCoord=70;refseq.end=62135377;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_153265;refseq.name2=EML3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P70P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=16;refseq.start=62135377;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr11 62137682 . G C 17.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=2.22;MQ=98.49;MQ0=0;OQ=532.50;QD=31.32;RankSumP=1.00000;SB=-283.81;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.353G>C;refseq.codonCoord=118;refseq.end=62137682;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_000327;refseq.name2=ROM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G118A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-238;refseq.start=62137682;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr11 62138384 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=3.16;MQ=96.02;MQ0=0;OQ=2952.77;QD=23.62;RankSumP=0.245682;SB=-958.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.669G>C;refseq.codonCoord=223;refseq.end=62138384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1210;refseq.name=NM_000327;refseq.name2=ROM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R223R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=79;refseq.start=62138384;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr11 62140698 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.765A>G;refseq.codonCoord=255;refseq.end=62140698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_012200;refseq.name2=B3GAT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G255G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-145;refseq.start=62140698;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 62150930 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2375A>C;refseq.codingCoordStr_2=c.2441A>C;refseq.codonCoord_1=792;refseq.codonCoord_2=814;refseq.end_1=62150930;refseq.end_2=62150930;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2408;refseq.mrnaCoord_2=2474;refseq.name2_1=GANAB;refseq.name2_2=GANAB;refseq.name_1=NM_198334;refseq.name_2=NM_198335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y792S;refseq.proteinCoordStr_2=p.Y814S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=62150930;refseq.start_2=62150930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr11 62156790 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.819T>G;refseq.codingCoordStr_2=c.885T>G;refseq.codonCoord_1=273;refseq.codonCoord_2=295;refseq.end_1=62156790;refseq.end_2=62156790;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=852;refseq.mrnaCoord_2=918;refseq.name2_1=GANAB;refseq.name2_2=GANAB;refseq.name_1=NM_198334;refseq.name_2=NM_198335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G273G;refseq.proteinCoordStr_2=p.G295G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=62156790;refseq.start_2=62156790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 62157528 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.595G>C;refseq.codingCoordStr_2=c.661G>C;refseq.codonCoord_1=199;refseq.codonCoord_2=221;refseq.end_1=62157528;refseq.end_2=62157528;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=694;refseq.name2_1=GANAB;refseq.name2_2=GANAB;refseq.name_1=NM_198334;refseq.name_2=NM_198335;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A199P;refseq.proteinCoordStr_2=p.A221P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=62157528;refseq.start_2=62157528;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr11 62190474 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=298;Dels=0.00;HRun=0;HaplotypeScore=18.49;MQ=97.97;MQ0=0;OQ=4179.29;QD=14.02;RankSumP=0.213970;SB=-1619.44;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.98G>A;refseq.codonCoord_2=33;refseq.end_1=62191560;refseq.end_2=62190474;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=357;refseq.name2_1=C11orf48;refseq.name2_2=METTL12;refseq.name_1=NM_024099;refseq.name_2=NM_001043229;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R33H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=31;refseq.start_1=62189032;refseq.start_2=62190474;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr11 62190749 . G A 166.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=7.02;MQ=98.89;MQ0=0;OQ=2698.14;QD=17.63;RankSumP=0.199515;SB=-779.74;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.373G>A;refseq.codonCoord_2=125;refseq.end_1=62191560;refseq.end_2=62190749;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=632;refseq.name2_1=C11orf48;refseq.name2_2=METTL12;refseq.name_1=NM_024099;refseq.name_2=NM_001043229;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G125S;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=306;refseq.start_1=62189032;refseq.start_2=62190749;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr11 62196145 . G A 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=162.46;QD=12.50;RankSumP=0.588578;SB=-45.66;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.265G>A;refseq.codonCoord=89;refseq.end=62196145;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_001085372;refseq.name2=C11orf83;refseq.positionType=CDS;refseq.proteinCoordStr=p.G89S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=145;refseq.start=62196145;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr11 62214851 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.09;MQ0=0;OQ=1776.51;QD=13.26;RankSumP=0.0967801;SB=-621.88;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1137A>G;refseq.codingCoordStr_2=c.1137A>G;refseq.codingCoordStr_3=c.945A>G;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.codonCoord_3=315;refseq.end_1=62214851;refseq.end_2=62214851;refseq.end_3=62214851;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1670;refseq.mrnaCoord_2=1694;refseq.mrnaCoord_3=1163;refseq.name2_1=BSCL2;refseq.name2_2=BSCL2;refseq.name2_3=BSCL2;refseq.name_1=NM_001122955;refseq.name_2=NM_001130702;refseq.name_3=NM_032667;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E379E;refseq.proteinCoordStr_2=p.E379E;refseq.proteinCoordStr_3=p.E315E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=62214851;refseq.start_2=62214851;refseq.start_3=62214851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr11 62246655 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1089C>G;refseq.codonCoord=363;refseq.end=62246655;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_001079559;refseq.name2=HNRNPUL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C363W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=62246655;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr11 62247728 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=9.96391e-10;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.798G>C;refseq.codonCoord=266;refseq.end=62247728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_001079559;refseq.name2=HNRNPUL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G266G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=47;refseq.start=62247728;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 62253095 . T C 232.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=98.95;MQ0=0;OQ=4113.89;QD=22.24;RankSumP=0.0218262;SB=-1041.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.199T>C;refseq.codonCoord=67;refseq.end=62253095;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_173810;refseq.name2=TTC9C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L67L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-40;refseq.start=62253095;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 62262340 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=12.14;MQ=98.47;MQ0=0;OQ=1125.32;QD=8.15;RankSumP=0.168856;SB=-50.79;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.426C>T;refseq.codonCoord=142;refseq.end=62262340;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_173810;refseq.name2=TTC9C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A142A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=62262340;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 62278051 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=431;Dels=0.00;HRun=1;HaplotypeScore=16.32;MQ=98.11;MQ0=0;OQ=6633.18;QD=15.39;RankSumP=1.23872e-07;SB=-2317.71;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.60A>G;refseq.codonCoord=20;refseq.end=62278051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_024784;refseq.name2=ZBTB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R20R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-40;refseq.start=62278051;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/0 chr11 62299856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.25T>G;refseq.codonCoord=9;refseq.end=62299856;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_006473;refseq.name2=TAF6L;refseq.positionType=CDS;refseq.proteinCoordStr=p.F9V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=38;refseq.start=62299856;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr11 62306210 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.656T>G;refseq.codonCoord=219;refseq.end=62306210;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_006473;refseq.name2=TAF6L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V219G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=50;refseq.start=62306210;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 62320585 . T C 229.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.06;MQ0=0;OQ=1311.57;QD=40.99;RankSumP=1.00000;SB=-212.42;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.*1939A>G;refseq.codingCoordStr_2=c.1209A>G;refseq.codonCoord_2=403;refseq.end_1=62320585;refseq.end_2=62320585;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3146;refseq.mrnaCoord_2=1345;refseq.name2_1=NXF1;refseq.name2_2=NXF1;refseq.name_1=NM_001081491;refseq.name_2=NM_006362;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R403R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=62320585;refseq.start_2=62320585;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr11 62349512 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.499C>G;refseq.codonCoord=167;refseq.end=62349512;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_003164;refseq.name2=STX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H167D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-42;refseq.start=62349512;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr11 62376998 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.end_1=62377112;refseq.end_2=62376998;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=86;refseq.name2_1=SNHG1;refseq.name2_2=SNORD22;refseq.name_1=NR_003098;refseq.name_2=NR_000008;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-41;refseq.start_1=62376898;refseq.start_2=62376998;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 1/0 chr11 62409355 . C T 201.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=1.88;MQ=98.95;MQ0=0;OQ=2637.32;QD=17.94;RankSumP=0.0898798;SB=-908.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_1=c.1345C>T;refseq.codingCoordStr_2=c.1255C>T;refseq.codingCoordStr_3=c.1159C>T;refseq.codingCoordStr_4=c.1066C>T;refseq.codingCoordStr_5=c.949C>T;refseq.codingCoordStr_6=c.1252C>T;refseq.codonCoord_1=449;refseq.codonCoord_2=419;refseq.codonCoord_3=387;refseq.codonCoord_4=356;refseq.codonCoord_5=317;refseq.codonCoord_6=418;refseq.end_1=62409355;refseq.end_2=62409355;refseq.end_3=62409355;refseq.end_4=62409355;refseq.end_5=62409355;refseq.end_6=62409355;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1569;refseq.mrnaCoord_2=1479;refseq.mrnaCoord_3=1383;refseq.mrnaCoord_4=1290;refseq.mrnaCoord_5=1158;refseq.mrnaCoord_6=1476;refseq.name2_1=SLC3A2;refseq.name2_2=SLC3A2;refseq.name2_3=SLC3A2;refseq.name2_4=SLC3A2;refseq.name2_5=SLC3A2;refseq.name2_6=SLC3A2;refseq.name_1=NM_001012661;refseq.name_2=NM_001012662;refseq.name_3=NM_001012663;refseq.name_4=NM_001012664;refseq.name_5=NM_001013251;refseq.name_6=NM_002394;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L449L;refseq.proteinCoordStr_2=p.L419L;refseq.proteinCoordStr_3=p.L387L;refseq.proteinCoordStr_4=p.L356L;refseq.proteinCoordStr_5=p.L317L;refseq.proteinCoordStr_6=p.L418L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.referenceCodon_5=CTA;refseq.referenceCodon_6=CTA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.spliceDist_5=-51;refseq.spliceDist_6=-51;refseq.start_1=62409355;refseq.start_2=62409355;refseq.start_3=62409355;refseq.start_4=62409355;refseq.start_5=62409355;refseq.start_6=62409355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;refseq.variantCodon_4=TTA;refseq.variantCodon_5=TTA;refseq.variantCodon_6=TTA;set=Intersection GT 0/1 chr11 62433796 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.33;MQ0=0;OQ=308.70;QD=14.03;RankSumP=0.626969;SB=-126.62;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1353C>T;refseq.codonCoord=451;refseq.end=62433796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1754;refseq.name=NM_000738;refseq.name2=CHRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S451S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-1070;refseq.start=62433796;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr11 62433928 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=7.42;MQ=98.36;MQ0=0;OQ=663.31;QD=10.53;RankSumP=0.239872;SB=-15.50;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1221C>T;refseq.codonCoord=407;refseq.end=62433928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1622;refseq.name=NM_000738;refseq.name2=CHRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C407C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1202;refseq.start=62433928;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr11 62434882 . G T 279.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.90;MQ0=0;OQ=2343.24;QD=15.22;RankSumP=0.293410;SB=-1138.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.267C>A;refseq.codonCoord=89;refseq.end=62434882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_000738;refseq.name2=CHRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G89G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=345;refseq.start=62434882;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 62508388 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.33;MQ0=0;OQ=692.08;QD=11.16;RankSumP=0.437550;SB=-248.37;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.351A>G;refseq.codingCoordStr_2=c.351A>G;refseq.codingCoordStr_3=c.351A>G;refseq.codingCoordStr_4=c.351A>G;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.codonCoord_3=117;refseq.codonCoord_4=117;refseq.end_1=62508388;refseq.end_2=62508388;refseq.end_3=62508388;refseq.end_4=62508388;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=658;refseq.mrnaCoord_2=658;refseq.mrnaCoord_3=658;refseq.mrnaCoord_4=658;refseq.name2_1=SLC22A6;refseq.name2_2=SLC22A6;refseq.name2_3=SLC22A6;refseq.name2_4=SLC22A6;refseq.name_1=NM_004790;refseq.name_2=NM_153276;refseq.name_3=NM_153277;refseq.name_4=NM_153278;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P117P;refseq.proteinCoordStr_2=p.P117P;refseq.proteinCoordStr_3=p.P117P;refseq.proteinCoordStr_4=p.P117P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.spliceDist_4=-19;refseq.start_1=62508388;refseq.start_2=62508388;refseq.start_3=62508388;refseq.start_4=62508388;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr11 62508487 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=20.65;MQ=96.25;MQ0=0;OQ=1164.33;QD=12.26;RankSumP=0.0236273;SB=-478.58;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.252G>T;refseq.codingCoordStr_2=c.252G>T;refseq.codingCoordStr_3=c.252G>T;refseq.codingCoordStr_4=c.252G>T;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.codonCoord_4=84;refseq.end_1=62508487;refseq.end_2=62508487;refseq.end_3=62508487;refseq.end_4=62508487;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=559;refseq.mrnaCoord_2=559;refseq.mrnaCoord_3=559;refseq.mrnaCoord_4=559;refseq.name2_1=SLC22A6;refseq.name2_2=SLC22A6;refseq.name2_3=SLC22A6;refseq.name2_4=SLC22A6;refseq.name_1=NM_004790;refseq.name_2=NM_153276;refseq.name_3=NM_153277;refseq.name_4=NM_153278;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P84P;refseq.proteinCoordStr_2=p.P84P;refseq.proteinCoordStr_3=p.P84P;refseq.proteinCoordStr_4=p.P84P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-118;refseq.spliceDist_2=-118;refseq.spliceDist_3=-118;refseq.spliceDist_4=-118;refseq.start_1=62508487;refseq.start_2=62508487;refseq.start_3=62508487;refseq.start_4=62508487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 1/0 chr11 62517896 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=5.77025e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1247T>G;refseq.codonCoord=416;refseq.end=62517896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_004254;refseq.name2=SLC22A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V416G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=31;refseq.start=62517896;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 62524809 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.396T>G;refseq.codonCoord=132;refseq.end=62524809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_004254;refseq.name2=SLC22A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G132G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-42;refseq.start=62524809;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 62688060 . T C 135.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=98.83;MQ0=0;OQ=2376.16;QD=14.23;RankSumP=0.326086;SB=-998.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1456A>G;refseq.codonCoord=486;refseq.end=62688060;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1456;refseq.name=NM_199352;refseq.name2=SLC22A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.M486V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=62;refseq.start=62688060;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 62707797 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=953;Dels=0.00;HRun=0;HaplotypeScore=28.84;MQ=98.87;MQ0=0;OQ=22729.90;QD=23.85;RankSumP=0.114939;SB=-6690.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.899G>C;refseq.codonCoord=300;refseq.end=62707797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_199352;refseq.name2=SLC22A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.R300T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-56;refseq.start=62707797;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr11 62741444 . T C 252.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=7.65;MQ=98.91;MQ0=0;OQ=5497.07;QD=19.22;RankSumP=0.245121;SB=-1857.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.748A>G;refseq.codonCoord=250;refseq.end=62741444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_199352;refseq.name2=SLC22A25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S250G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-83;refseq.start=62741444;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr11 62814501 . G A 265.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=510;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=98.56;MQ0=0;OQ=9316.46;QD=18.27;RankSumP=0.426083;SB=-3522.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.288G>A;refseq.codonCoord=96;refseq.end=62814501;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_001039752;refseq.name2=SLC22A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.W96*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-115;refseq.start=62814501;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chr11 62821399 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=0;HaplotypeScore=24.68;MQ=98.95;MQ0=0;OQ=9690.77;QD=19.86;RankSumP=0.441276;SB=-4080.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.555T>C;refseq.codonCoord=185;refseq.end=62821399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_001039752;refseq.name2=SLC22A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I185I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=49;refseq.start=62821399;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr11 62828202 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1332T>G;refseq.codonCoord=444;refseq.end=62828202;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_001039752;refseq.name2=SLC22A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C444W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=47;refseq.start=62828202;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr11 62828766 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1427G>A;refseq.codonCoord=476;refseq.end=62828766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1635;refseq.name=NM_001039752;refseq.name2=SLC22A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S476N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=33;refseq.start=62828766;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr11 62828886 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=688;Dels=0.00;HRun=0;HaplotypeScore=15.64;MQ=98.72;MQ0=0;OQ=13432.67;QD=19.52;RankSumP=0.0829498;SB=-5034.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1547C>T;refseq.codonCoord=516;refseq.end=62828886;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1755;refseq.name=NM_001039752;refseq.name2=SLC22A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P516L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-52;refseq.start=62828886;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr11 62895245 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.465A>G;refseq.codonCoord=155;refseq.end=62895245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_080866;refseq.name2=SLC22A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G155G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-42;refseq.start=62895245;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 63014992 . T C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=97.50;MQ0=0;OQ=832.90;QD=24.50;RankSumP=1.00000;SB=-166.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.91A>G;refseq.codingCoordStr_2=c.91A>G;refseq.codingCoordStr_3=c.91A>G;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.codonCoord_3=31;refseq.end_1=63014992;refseq.end_2=63014992;refseq.end_3=63014992;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=265;refseq.mrnaCoord_2=265;refseq.mrnaCoord_3=265;refseq.name2_1=HRASLS5;refseq.name2_2=HRASLS5;refseq.name2_3=HRASLS5;refseq.name_1=NM_001146728;refseq.name_2=NM_001146729;refseq.name_3=NM_054108;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S31G;refseq.proteinCoordStr_2=p.S31G;refseq.proteinCoordStr_3=p.S31G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=63014992;refseq.start_2=63014992;refseq.start_3=63014992;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chr11 63070220 . T C 422.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.58;MQ0=0;OQ=3439.64;QD=38.22;RankSumP=1.00000;SB=-1515.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.411T>C;refseq.codonCoord=137;refseq.end=63070220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_004585;refseq.name2=RARRES3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V137V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=24;refseq.start=63070220;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr11 63167542 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.713T>G;refseq.codonCoord=238;refseq.end=63167542;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=989;refseq.name=NM_015459;refseq.name2=ATL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V238G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=63167542;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 63183146 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.201T>G;refseq.codonCoord=67;refseq.end=63183146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_015459;refseq.name2=ATL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G67G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-61;refseq.start=63183146;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 63243962 . T C 243.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=12.37;MQ=98.72;MQ0=0;OQ=14291.17;QD=39.81;RankSumP=1.00000;SB=-6084.10;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_4=c.1355T>C;refseq.codonCoord_4=452;refseq.end_1=63274028;refseq.end_2=63274028;refseq.end_3=63274028;refseq.end_4=63243962;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1542;refseq.name2_1=RTN3;refseq.name2_2=RTN3;refseq.name2_3=RTN3;refseq.name2_4=RTN3;refseq.name_1=NM_006054;refseq.name_2=NM_201430;refseq.name_3=NM_201429;refseq.name_4=NM_201428;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.V452A;refseq.referenceAA_4=Val;refseq.referenceCodon_4=GTT;refseq.spliceDist_4=-1119;refseq.start_1=63205837;refseq.start_2=63205837;refseq.start_3=63228966;refseq.start_4=63243962;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ala;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr11 63337845 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=6.89161e-08;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.111C>G;refseq.codonCoord=37;refseq.end=63337845;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_138471;refseq.name2=C11orf84;refseq.positionType=CDS;refseq.proteinCoordStr=p.P37P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-17;refseq.start=63337845;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr11 63342380 . C A 372.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.91;MQ0=0;OQ=4998.29;QD=35.45;RankSumP=1.00000;SB=-1398.94;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.574C>A;refseq.codonCoord=192;refseq.end=63342380;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_138471;refseq.name2=C11orf84;refseq.positionType=CDS;refseq.proteinCoordStr=p.R192R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-34;refseq.start=63342380;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr11 63435945 rs320108 T C 12.38 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=12.38;SB=-10.00;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1540A>G;refseq.codonCoord=514;refseq.end=63435945;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1928;refseq.name=NM_173587;refseq.name2=RCOR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T514A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=283;refseq.start=63435945;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.50,-0.30,-0.00:1.76 chr11 63438089 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.36;MQ0=0;OQ=2869.43;QD=35.87;RankSumP=1.00000;SB=-668.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.804A>G;refseq.codonCoord=268;refseq.end=63438089;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_173587;refseq.name2=RCOR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E268E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-88;refseq.start=63438089;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr11 63523395 . T C 44 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.51346e-05;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.875A>G;refseq.codonCoord=292;refseq.end=63523395;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_014067;refseq.name2=MACROD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E292G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-17;refseq.start=63523395;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 63640421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.106T>G;refseq.codonCoord_2=36;refseq.end_1=63675276;refseq.end_2=63640421;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=447;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F36V;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=155;refseq.start_1=63539340;refseq.start_2=63640421;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr11 63640561 . T C 334.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.74;MQ0=0;OQ=8174.20;QD=35.54;RankSumP=1.00000;SB=-3551.65;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.246T>C;refseq.codonCoord_2=82;refseq.end_1=63675276;refseq.end_2=63640561;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=587;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D82D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=295;refseq.start_1=63539340;refseq.start_2=63640561;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr11 63640603 . C T 279.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=12.29;MQ=98.69;MQ0=0;OQ=2877.25;QD=17.76;RankSumP=0.0638655;SB=-1042.99;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.288C>T;refseq.codonCoord_2=96;refseq.end_1=63675276;refseq.end_2=63640603;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=629;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A96A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=337;refseq.start_1=63539340;refseq.start_2=63640603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr11 63641863 . C T 161.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=98.09;MQ0=0;OQ=2282.80;QD=13.04;RankSumP=0.0187515;SB=-1081.02;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1548C>T;refseq.codonCoord_2=516;refseq.end_1=63675276;refseq.end_2=63641863;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1889;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y516Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=-1359;refseq.start_1=63539340;refseq.start_2=63641863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr11 63642208 . A G 145.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=8.72;MQ=97.78;MQ0=0;OQ=8096.75;QD=33.18;RankSumP=1.00000;SB=-1451.58;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1893A>G;refseq.codonCoord_2=631;refseq.end_1=63675276;refseq.end_2=63642208;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2234;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E631E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-1014;refseq.start_1=63539340;refseq.start_2=63642208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr11 63642236 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1921T>C;refseq.codonCoord_2=641;refseq.end_1=63675276;refseq.end_2=63642236;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2262;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S641P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-986;refseq.start_1=63539340;refseq.start_2=63642236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr11 63642280 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=20.97;MQ=96.81;MQ0=0;OQ=2141.89;QD=10.01;RankSumP=0.100000;SB=-212.20;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1965C>T;refseq.codonCoord_2=655;refseq.end_1=63675276;refseq.end_2=63642280;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2306;refseq.name2_1=MACROD1;refseq.name2_2=FLRT1;refseq.name_1=NM_014067;refseq.name_2=NM_013280;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y655Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=-942;refseq.start_1=63539340;refseq.start_2=63642280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr11 63753905 . A G 233.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=3.92;MQ=98.20;MQ0=0;OQ=2644.43;QD=34.80;RankSumP=1.00000;SB=-1280.86;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.779A>G;refseq.codingCoordStr_2=c.680A>G;refseq.codingCoordStr_3=c.779A>G;refseq.codonCoord_1=260;refseq.codonCoord_2=227;refseq.codonCoord_3=260;refseq.end_1=63753905;refseq.end_2=63753905;refseq.end_3=63753905;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=860;refseq.mrnaCoord_3=959;refseq.name2_1=NUDT22;refseq.name2_2=NUDT22;refseq.name2_3=NUDT22;refseq.name_1=NM_001128612;refseq.name_2=NM_001128613;refseq.name_3=NM_032344;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q260R;refseq.proteinCoordStr_2=p.Q227R;refseq.proteinCoordStr_3=p.Q260R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=63753905;refseq.start_2=63753905;refseq.start_3=63753905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr11 63753914 . T C 295.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=4.58;MQ=98.21;MQ0=0;OQ=2904.39;QD=37.72;RankSumP=1.00000;SB=-1400.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.788T>C;refseq.codingCoordStr_2=c.689T>C;refseq.codingCoordStr_3=c.788T>C;refseq.codonCoord_1=263;refseq.codonCoord_2=230;refseq.codonCoord_3=263;refseq.end_1=63753914;refseq.end_2=63753914;refseq.end_3=63753914;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=838;refseq.mrnaCoord_2=869;refseq.mrnaCoord_3=968;refseq.name2_1=NUDT22;refseq.name2_2=NUDT22;refseq.name2_3=NUDT22;refseq.name_1=NM_001128612;refseq.name_2=NM_001128613;refseq.name_3=NM_032344;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L263P;refseq.proteinCoordStr_2=p.L230P;refseq.proteinCoordStr_3=p.L263P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=63753914;refseq.start_2=63753914;refseq.start_3=63753914;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr11 63761268 . C T 155.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=1679.91;QD=17.32;RankSumP=0.0989806;SB=-861.81;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.408C>T;refseq.codonCoord=136;refseq.end=63761268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_003377;refseq.name2=VEGFB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D136D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=63761268;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 63768017 . T C 191.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=8.75;MQ=98.10;MQ0=0;OQ=3757.46;QD=34.79;RankSumP=1.00000;SB=-1142.13;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.369T>C;refseq.codingCoordStr_2=c.369T>C;refseq.codingCoordStr_3=c.369T>C;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.end_1=63768017;refseq.end_2=63768017;refseq.end_3=63768017;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=565;refseq.mrnaCoord_3=471;refseq.name2_1=FKBP2;refseq.name2_2=FKBP2;refseq.name2_3=FKBP2;refseq.name_1=NM_001135208;refseq.name_2=NM_004470;refseq.name_3=NM_057092;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G123G;refseq.proteinCoordStr_2=p.G123G;refseq.proteinCoordStr_3=p.G123G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=63768017;refseq.start_2=63768017;refseq.start_3=63768017;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr11 63768801 . G C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=3.84;MQ=75.48;MQ0=17;OQ=2102.03;QD=31.85;RankSumP=1.00000;SB=-198.68;SecondBestBaseQ=0;refseq.chr=chr11;refseq.codingCoordStr=c.*1C>G;refseq.end=63768801;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=713;refseq.name=NM_138689;refseq.name2=PPP1R14B;refseq.positionType=utr3;refseq.spliceDist=70;refseq.start=63768801;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr11 63779035 . A G 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=99.00;MQ0=0;OQ=3750.59;QD=31.25;RankSumP=1.00000;SB=-1798.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.336A>G;refseq.codonCoord=112;refseq.end=63779035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P112P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-52;refseq.start=63779035;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 63779846 . C T 212.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.51;MQ0=0;OQ=2984.59;QD=17.77;RankSumP=0.309205;SB=-1409.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.675C>T;refseq.codonCoord=225;refseq.end=63779846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D225D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-24;refseq.start=63779846;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 63780547 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.31;MQ0=0;OQ=383.45;QD=8.71;RankSumP=0.223393;SB=-144.56;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.822G>A;refseq.codonCoord=274;refseq.end=63780547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L274L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-44;refseq.start=63780547;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr11 63780758 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.958A>C;refseq.codonCoord=320;refseq.end=63780758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=958;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T320P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=63780758;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 63782720 . G A 242.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=8.39;MQ=98.71;MQ0=0;OQ=11439.14;QD=34.88;RankSumP=1.00000;SB=-3157.72;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1212G>A;refseq.codonCoord=404;refseq.end=63782720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S404S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-42;refseq.start=63782720;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr11 63783215 . G A 109.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.47;MQ0=0;OQ=877.16;QD=19.49;RankSumP=0.139631;SB=-343.88;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1448G>A;refseq.codonCoord=483;refseq.end=63783215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R483H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-78;refseq.start=63783215;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 63783261 . C T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.63;MQ0=0;OQ=205.59;QD=11.42;RankSumP=0.0925685;SB=-42.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1494C>T;refseq.codonCoord=498;refseq.end=63783261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_000932;refseq.name2=PLCB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S498S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-32;refseq.start=63783261;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr11 63795751 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=95.36;MQ0=0;OQ=162.32;QD=14.76;RankSumP=0.398601;SB=-43.55;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.288C>T;refseq.codingCoordStr_2=c.288C>T;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=63795751;refseq.end_2=63795751;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=624;refseq.mrnaCoord_2=370;refseq.name2_1=BAD;refseq.name2_2=BAD;refseq.name_1=NM_004322;refseq.name_2=NM_032989;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R96R;refseq.proteinCoordStr_2=p.R96R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-91;refseq.spliceDist_2=-91;refseq.start_1=63795751;refseq.start_2=63795751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr11 63812654 . A C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=5.02124e-08;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_2=c.1090A>C;refseq.codingCoordStr_3=c.916A>C;refseq.codingCoordStr_4=c.766A>C;refseq.codingCoordStr_5=c.916A>C;refseq.codonCoord_2=364;refseq.codonCoord_3=306;refseq.codonCoord_4=256;refseq.codonCoord_5=306;refseq.end_1=63813074;refseq.end_2=63812654;refseq.end_3=63812654;refseq.end_4=63812654;refseq.end_5=63812654;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1118;refseq.mrnaCoord_3=1331;refseq.mrnaCoord_4=1349;refseq.mrnaCoord_5=1331;refseq.name2_1=GPR137;refseq.name2_2=GPR137;refseq.name2_3=GPR137;refseq.name2_4=GPR137;refseq.name2_5=GPR137;refseq.name_1=NM_001177358;refseq.name_2=NM_001170726;refseq.name_3=NM_001170880;refseq.name_4=NM_001170881;refseq.name_5=NM_020155;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.T364P;refseq.proteinCoordStr_3=p.T306P;refseq.proteinCoordStr_4=p.T256P;refseq.proteinCoordStr_5=p.T306P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceDist_5=4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.spliceInfo_5=splice-acceptor_4;refseq.start_1=63812527;refseq.start_2=63812654;refseq.start_3=63812654;refseq.start_4=63812654;refseq.start_5=63812654;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr11 63813353 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=4.34690e-06;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_1=c.1368C>A;refseq.codingCoordStr_2=c.*109C>A;refseq.codingCoordStr_3=c.*109C>A;refseq.codingCoordStr_4=c.*218C>A;refseq.codingCoordStr_5=c.1194C>A;refseq.codonCoord_1=456;refseq.codonCoord_5=398;refseq.end_1=63813353;refseq.end_2=63813353;refseq.end_3=63813353;refseq.end_4=63813353;refseq.end_5=63813353;refseq.frame_1=2;refseq.frame_5=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_5=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1715;refseq.mrnaCoord_3=1733;refseq.mrnaCoord_4=1648;refseq.mrnaCoord_5=1609;refseq.name2_1=GPR137;refseq.name2_2=GPR137;refseq.name2_3=GPR137;refseq.name2_4=GPR137;refseq.name2_5=GPR137;refseq.name_1=NM_001170726;refseq.name_2=NM_001170880;refseq.name_3=NM_001170881;refseq.name_4=NM_001177358;refseq.name_5=NM_020155;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Y456*;refseq.proteinCoordStr_5=p.Y398*;refseq.referenceAA_1=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_5=TAC;refseq.spliceDist_1=163;refseq.spliceDist_2=-196;refseq.spliceDist_3=-196;refseq.spliceDist_4=-196;refseq.spliceDist_5=163;refseq.start_1=63813353;refseq.start_2=63813353;refseq.start_3=63813353;refseq.start_4=63813353;refseq.start_5=63813353;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Stop;refseq.variantAA_5=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_5=TAA;set=FilteredInAll GT 1/0 chr11 63823435 . G A 332.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.80;MQ0=0;OQ=1022.26;QD=35.25;RankSumP=1.00000;SB=-466.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.843G>A;refseq.codonCoord=281;refseq.end=63823435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_033310;refseq.name2=KCNK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T281T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=42;refseq.start=63823435;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 63842361 . A G 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=94.68;MQ0=0;OQ=1120.07;QD=28.00;RankSumP=1.00000;SB=-176.85;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.98A>G;refseq.codingCoordStr_2=c.98A>G;refseq.codingCoordStr_3=c.98A>G;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=63842361;refseq.end_2=63842361;refseq.end_3=63842361;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=217;refseq.mrnaCoord_2=217;refseq.mrnaCoord_3=217;refseq.name2_1=PRDX5;refseq.name2_2=PRDX5;refseq.name2_3=PRDX5;refseq.name_1=NM_012094;refseq.name_2=NM_181651;refseq.name_3=NM_181652;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y33C;refseq.proteinCoordStr_2=p.Y33C;refseq.proteinCoordStr_3=p.Y33C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=63842361;refseq.start_2=63842361;refseq.start_3=63842361;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/1 chr11 63865694 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=96.53;MQ0=0;OQ=276.32;QD=11.51;RankSumP=0.507490;SB=-136.21;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.579T>G;refseq.codonCoord=193;refseq.end=63865694;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D193E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=48;refseq.start=63865694;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr11 63867244 . G A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=76.88;QD=10.98;RankSumP=0.100000;SB=-48.65;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1080G>A;refseq.codonCoord=360;refseq.end=63867244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S360S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=18;refseq.start=63867244;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr11 63867259 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=35;HRun=1;RankSumP=0.500000;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1095G>C;refseq.codonCoord=365;refseq.end=63867259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1144;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A365A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=33;refseq.start=63867259;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 63868504 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.26;MQ=99.00;MQ0=0;OQ=994.66;QD=33.16;RankSumP=1.00000;SB=-474.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1915T>C;refseq.codonCoord=639;refseq.end=63868504;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W639R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=460;refseq.start=63868504;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 63873419 . A C 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=967.71;QD=34.56;RankSumP=1.00000;SB=-412.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2657A>C;refseq.codonCoord=886;refseq.end=63873419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2706;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D886A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=41;refseq.start=63873419;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 63881091 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=3;HaplotypeScore=7.87;MQ=98.76;MQ0=0;OQ=2252.35;QD=14.82;RankSumP=0.484541;SB=-619.71;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4380T>C;refseq.codonCoord=1460;refseq.end=63881091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4429;refseq.name=NM_032251;refseq.name2=CCDC88B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1460P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=63881091;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr11 63895381 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=7.61;MQ=98.20;MQ0=0;OQ=1606.04;QD=13.85;RankSumP=0.481364;SB=-582.85;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2154T>C;refseq.codingCoordStr_2=c.2172T>C;refseq.codonCoord_1=718;refseq.codonCoord_2=724;refseq.end_1=63895381;refseq.end_2=63895381;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2237;refseq.mrnaCoord_2=2255;refseq.name2_1=RPS6KA4;refseq.name2_2=RPS6KA4;refseq.name_1=NM_001006944;refseq.name_2=NM_003942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N718N;refseq.proteinCoordStr_2=p.N724N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=63895381;refseq.start_2=63895381;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr11 63895481 . T G 20.25 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.75;MQ0=0;QD=2.03;RankSumP=0.211364;SB=-6.99;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2254T>G;refseq.codingCoordStr_2=c.2272T>G;refseq.codonCoord_1=752;refseq.codonCoord_2=758;refseq.end_1=63895481;refseq.end_2=63895481;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2337;refseq.mrnaCoord_2=2355;refseq.name2_1=RPS6KA4;refseq.name2_2=RPS6KA4;refseq.name_1=NM_001006944;refseq.name_2=NM_003942;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S752A;refseq.proteinCoordStr_2=p.S758A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.start_1=63895481;refseq.start_2=63895481;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 64080313 . G C 37 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=7.55101e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.266G>C;refseq.codonCoord=89;refseq.end=64080313;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_018484;refseq.name2=SLC22A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R89P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-128;refseq.start=64080313;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 64092780 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1336A>C;refseq.codonCoord=446;refseq.end=64092780;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1710;refseq.name=NM_018484;refseq.name2=SLC22A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T446P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-47;refseq.start=64092780;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 64115862 . C T 53.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=90.90;MQ0=1;OQ=2037.40;QD=29.53;RankSumP=1.00000;SB=-367.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.258C>T;refseq.codingCoordStr_2=c.-251C>T;refseq.codonCoord_1=86;refseq.end_1=64115862;refseq.end_2=64115862;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1005;refseq.mrnaCoord_2=894;refseq.name2_1=SLC22A12;refseq.name2_2=SLC22A12;refseq.name_1=NM_144585;refseq.name_2=NM_153378;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.H86H;refseq.referenceAA_1=His;refseq.referenceCodon_1=CAC;refseq.spliceDist_1=-145;refseq.spliceDist_2=-145;refseq.start_1=64115862;refseq.start_2=64115862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantCodon_1=CAT;set=Intersection GT 1/1 chr11 64115879 . G C 75 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.44680e-07;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.275G>C;refseq.codingCoordStr_2=c.-234G>C;refseq.codonCoord_1=92;refseq.end_1=64115879;refseq.end_2=64115879;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=911;refseq.name2_1=SLC22A12;refseq.name2_2=SLC22A12;refseq.name_1=NM_144585;refseq.name_2=NM_153378;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.R92P;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=CGC;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.start_1=64115879;refseq.start_2=64115879;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCC;set=FilteredInAll GT 0/1 chr11 64116850 . T C 382.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.87;MQ0=0;OQ=8141.09;QD=36.34;RankSumP=1.00000;SB=-2312.63;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.426T>C;refseq.codingCoordStr_2=c.-83T>C;refseq.codonCoord_1=142;refseq.end_1=64116850;refseq.end_2=64116850;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1173;refseq.mrnaCoord_2=1062;refseq.name2_1=SLC22A12;refseq.name2_2=SLC22A12;refseq.name_1=NM_144585;refseq.name_2=NM_153378;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.H142H;refseq.referenceAA_1=His;refseq.referenceCodon_1=CAT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=64116850;refseq.start_2=64116850;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.uorfChange_2=-1;refseq.variantAA_1=His;refseq.variantCodon_1=CAC;set=Intersection GT 1/1 chr11 64123901 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.62;MQ0=0;OQ=2032.68;QD=36.30;RankSumP=1.00000;SB=-182.76;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1248A>G;refseq.codingCoordStr_2=c.585A>G;refseq.codonCoord_1=416;refseq.codonCoord_2=195;refseq.end_1=64123901;refseq.end_2=64123901;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1995;refseq.mrnaCoord_2=1729;refseq.name2_1=SLC22A12;refseq.name2_2=SLC22A12;refseq.name_1=NM_144585;refseq.name_2=NM_153378;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A416A;refseq.proteinCoordStr_2=p.A195A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=64123901;refseq.start_2=64123901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr11 64131783 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.218182;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.4600C>A;refseq.codingCoordStr_2=c.4390C>A;refseq.codingCoordStr_3=c.1462C>A;refseq.codonCoord_1=1534;refseq.codonCoord_2=1464;refseq.codonCoord_3=488;refseq.end_1=64131783;refseq.end_2=64131783;refseq.end_3=64131783;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5039;refseq.mrnaCoord_2=4829;refseq.mrnaCoord_3=1974;refseq.name2_1=NRXN2;refseq.name2_2=NRXN2;refseq.name2_3=NRXN2;refseq.name_1=NM_015080;refseq.name_2=NM_138732;refseq.name_3=NM_138734;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1534T;refseq.proteinCoordStr_2=p.P1464T;refseq.proteinCoordStr_3=p.P488T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=348;refseq.spliceDist_2=348;refseq.spliceDist_3=348;refseq.start_1=64131783;refseq.start_2=64131783;refseq.start_3=64131783;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr11 64175476 . G A 225.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=98.02;MQ0=0;OQ=6193.52;QD=37.31;RankSumP=1.00000;SB=-2991.83;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2745C>T;refseq.codingCoordStr_2=c.2625C>T;refseq.codonCoord_1=915;refseq.codonCoord_2=875;refseq.end_1=64175476;refseq.end_2=64175476;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3184;refseq.mrnaCoord_2=3064;refseq.name2_1=NRXN2;refseq.name2_2=NRXN2;refseq.name_1=NM_015080;refseq.name_2=NM_138732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I915I;refseq.proteinCoordStr_2=p.I875I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-174;refseq.spliceDist_2=-174;refseq.start_1=64175476;refseq.start_2=64175476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr11 64237217 . G A 94.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.69;MQ0=0;OQ=82.12;QD=20.53;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.531C>T;refseq.codingCoordStr_2=c.531C>T;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=64237217;refseq.end_2=64237217;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=970;refseq.mrnaCoord_2=970;refseq.name2_1=NRXN2;refseq.name2_2=NRXN2;refseq.name_1=NM_015080;refseq.name_2=NM_138732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G177G;refseq.proteinCoordStr_2=p.G177G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-200;refseq.spliceDist_2=-200;refseq.start_1=64237217;refseq.start_2=64237217;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 1/1 chr11 64252933 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.33;MQ0=0;OQ=1637.12;QD=19.04;RankSumP=0.260762;SB=-635.05;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1749C>A;refseq.codingCoordStr_2=c.1749C>A;refseq.codingCoordStr_3=c.1749C>A;refseq.codonCoord_1=583;refseq.codonCoord_2=583;refseq.codonCoord_3=583;refseq.end_1=64252933;refseq.end_2=64252933;refseq.end_3=64252933;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1936;refseq.mrnaCoord_2=1976;refseq.mrnaCoord_3=2002;refseq.name2_1=RASGRP2;refseq.name2_2=RASGRP2;refseq.name2_3=RASGRP2;refseq.name_1=NM_001098670;refseq.name_2=NM_001098671;refseq.name_3=NM_153819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G583G;refseq.proteinCoordStr_2=p.G583G;refseq.proteinCoordStr_3=p.G583G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=64252933;refseq.start_2=64252933;refseq.start_3=64252933;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 0/1 chr11 64264185 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.398T>G;refseq.codingCoordStr_2=c.398T>G;refseq.codingCoordStr_3=c.398T>G;refseq.codonCoord_1=133;refseq.codonCoord_2=133;refseq.codonCoord_3=133;refseq.end_1=64264185;refseq.end_2=64264185;refseq.end_3=64264185;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=625;refseq.mrnaCoord_3=651;refseq.name2_1=RASGRP2;refseq.name2_2=RASGRP2;refseq.name2_3=RASGRP2;refseq.name_1=NM_001098670;refseq.name_2=NM_001098671;refseq.name_3=NM_153819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V133G;refseq.proteinCoordStr_2=p.V133G;refseq.proteinCoordStr_3=p.V133G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=64264185;refseq.start_2=64264185;refseq.start_3=64264185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr11 64328594 . T C 225.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.94;MQ0=0;OQ=1800.42;QD=32.73;RankSumP=1.00000;SB=-679.61;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.codingCoordStr_1=c.1636A>G;refseq.codingCoordStr_2=c.1621A>G;refseq.codingCoordStr_3=c.1636A>G;refseq.codingCoordStr_4=c.1636A>G;refseq.codingCoordStr_5=c.1636A>G;refseq.codingCoordStr_6=c.1636A>G;refseq.codingCoordStr_7=c.1636A>G;refseq.codonCoord_1=546;refseq.codonCoord_2=541;refseq.codonCoord_3=546;refseq.codonCoord_4=546;refseq.codonCoord_5=546;refseq.codonCoord_6=546;refseq.codonCoord_7=546;refseq.end_1=64328594;refseq.end_2=64328594;refseq.end_3=64328594;refseq.end_4=64328594;refseq.end_5=64328594;refseq.end_6=64328594;refseq.end_7=64328594;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1746;refseq.mrnaCoord_2=1731;refseq.mrnaCoord_3=1709;refseq.mrnaCoord_4=1697;refseq.mrnaCoord_5=2133;refseq.mrnaCoord_6=2140;refseq.mrnaCoord_7=2012;refseq.name2_1=MEN1;refseq.name2_2=MEN1;refseq.name2_3=MEN1;refseq.name2_4=MEN1;refseq.name2_5=MEN1;refseq.name2_6=MEN1;refseq.name2_7=MEN1;refseq.name_1=NM_000244;refseq.name_2=NM_130799;refseq.name_3=NM_130800;refseq.name_4=NM_130801;refseq.name_5=NM_130802;refseq.name_6=NM_130803;refseq.name_7=NM_130804;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T546A;refseq.proteinCoordStr_2=p.T541A;refseq.proteinCoordStr_3=p.T546A;refseq.proteinCoordStr_4=p.T546A;refseq.proteinCoordStr_5=p.T546A;refseq.proteinCoordStr_6=p.T546A;refseq.proteinCoordStr_7=p.T546A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.spliceDist_1=271;refseq.spliceDist_2=271;refseq.spliceDist_3=271;refseq.spliceDist_4=271;refseq.spliceDist_5=271;refseq.spliceDist_6=271;refseq.spliceDist_7=271;refseq.start_1=64328594;refseq.start_2=64328594;refseq.start_3=64328594;refseq.start_4=64328594;refseq.start_5=64328594;refseq.start_6=64328594;refseq.start_7=64328594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;set=Intersection GT 1/1 chr11 64329133 . A G 293.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.55;MQ=98.46;MQ0=0;OQ=5711.04;QD=35.47;RankSumP=1.00000;SB=-2460.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.chr_7=chr11;refseq.codingCoordStr_1=c.1314T>C;refseq.codingCoordStr_2=c.1299T>C;refseq.codingCoordStr_3=c.1314T>C;refseq.codingCoordStr_4=c.1314T>C;refseq.codingCoordStr_5=c.1314T>C;refseq.codingCoordStr_6=c.1314T>C;refseq.codingCoordStr_7=c.1314T>C;refseq.codonCoord_1=438;refseq.codonCoord_2=433;refseq.codonCoord_3=438;refseq.codonCoord_4=438;refseq.codonCoord_5=438;refseq.codonCoord_6=438;refseq.codonCoord_7=438;refseq.end_1=64329133;refseq.end_2=64329133;refseq.end_3=64329133;refseq.end_4=64329133;refseq.end_5=64329133;refseq.end_6=64329133;refseq.end_7=64329133;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1424;refseq.mrnaCoord_2=1409;refseq.mrnaCoord_3=1387;refseq.mrnaCoord_4=1375;refseq.mrnaCoord_5=1811;refseq.mrnaCoord_6=1818;refseq.mrnaCoord_7=1690;refseq.name2_1=MEN1;refseq.name2_2=MEN1;refseq.name2_3=MEN1;refseq.name2_4=MEN1;refseq.name2_5=MEN1;refseq.name2_6=MEN1;refseq.name2_7=MEN1;refseq.name_1=NM_000244;refseq.name_2=NM_130799;refseq.name_3=NM_130800;refseq.name_4=NM_130801;refseq.name_5=NM_130802;refseq.name_6=NM_130803;refseq.name_7=NM_130804;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.H438H;refseq.proteinCoordStr_2=p.H433H;refseq.proteinCoordStr_3=p.H438H;refseq.proteinCoordStr_4=p.H438H;refseq.proteinCoordStr_5=p.H438H;refseq.proteinCoordStr_6=p.H438H;refseq.proteinCoordStr_7=p.H438H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceAA_7=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.referenceCodon_5=CAT;refseq.referenceCodon_6=CAT;refseq.referenceCodon_7=CAT;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.spliceDist_5=-52;refseq.spliceDist_6=-52;refseq.spliceDist_7=-52;refseq.start_1=64329133;refseq.start_2=64329133;refseq.start_3=64329133;refseq.start_4=64329133;refseq.start_5=64329133;refseq.start_6=64329133;refseq.start_7=64329133;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;set=Intersection GT 1/1 chr11 64348548 . T C 426.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=97.25;MQ0=0;OQ=2319.40;QD=38.02;RankSumP=1.00000;SB=-1093.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4629A>G;refseq.codonCoord=1543;refseq.end=64348548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4629;refseq.name=NM_017525;refseq.name2=CDC42BPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1543L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=30;refseq.start=64348548;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 64354082 . T C 197.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=4.44;MQ=98.16;MQ0=0;OQ=2859.40;QD=34.04;RankSumP=1.00000;SB=-1070.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3404A>G;refseq.codonCoord=1135;refseq.end=64354082;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3404;refseq.name=NM_017525;refseq.name2=CDC42BPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1135R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=64354082;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 64357677 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00164085;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2596A>C;refseq.codonCoord=866;refseq.end=64357677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2596;refseq.name=NM_017525;refseq.name2=CDC42BPG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T866P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-30;refseq.start=64357677;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr11 64378432 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.17;MQ=97.82;MQ0=0;OQ=1587.68;QD=33.08;RankSumP=1.00000;SB=-238.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1554T>C;refseq.codonCoord=518;refseq.end=64378432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1809;refseq.name=NM_006795;refseq.name2=EHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P518P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=474;refseq.start=64378432;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 64378787 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1199A>G;refseq.codonCoord=400;refseq.end=64378787;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1454;refseq.name=NM_006795;refseq.name2=EHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E400G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=119;refseq.start=64378787;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 64379445 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=2;HaplotypeScore=12.37;MQ=98.85;MQ0=0;OQ=11190.35;QD=46.43;RankSumP=1.00000;SB=-3470.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1005C>G;refseq.codonCoord=335;refseq.end=64379445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_006795;refseq.name2=EHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L335L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-76;refseq.start=64379445;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 64402447 . A G 115.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=5.26;MQ=96.47;MQ0=0;OQ=3982.67;QD=32.12;RankSumP=1.00000;SB=-710.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=64402447;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_006795;refseq.name2=EHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A22A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=321;refseq.start=64402447;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 64420644 . G A 11.57 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=98.60;MQ0=0;QD=0.68;SB=-29.59;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.5293C>T;refseq.codonCoord=1765;refseq.end=64420644;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5408;refseq.name=NM_015104;refseq.name2=ATG2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1765L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=21;refseq.start=64420644;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,2:15:-8.93,-4.52,-50.01:44.09 chr11 64422758 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4597G>C;refseq.codonCoord=1533;refseq.end=64422758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4712;refseq.name=NM_015104;refseq.name2=ATG2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1533P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-75;refseq.start=64422758;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 64433869 . G C 31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=2.38;MQ=97.14;MQ0=0;OQ=751.89;QD=25.06;RankSumP=1.00000;SB=-128.74;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1967C>G;refseq.codonCoord=656;refseq.end=64433869;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2082;refseq.name=NM_015104;refseq.name2=ATG2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P656R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=104;refseq.start=64433869;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 64437395 . G A 328.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.61;MQ0=0;OQ=1200.26;QD=36.37;RankSumP=1.00000;SB=-558.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.645C>T;refseq.codonCoord=215;refseq.end=64437395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_015104;refseq.name2=ATG2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D215D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=55;refseq.start=64437395;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr11 64545770 . T C 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=7.45;MQ=96.26;MQ0=0;OQ=1400.35;QD=25.93;RankSumP=1.00000;SB=-241.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.422T>C;refseq.codonCoord=141;refseq.end=64545770;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_001667;refseq.name2=ARL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V141A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=64545770;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 64556574 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=3;HaplotypeScore=8.31;MQ=97.97;MQ0=0;OQ=4805.73;QD=36.97;RankSumP=1.00000;SB=-2257.25;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.231T>C;refseq.codingCoordStr_2=c.231T>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=64556574;refseq.end_2=64556574;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=331;refseq.mrnaCoord_2=331;refseq.name2_1=SNX15;refseq.name2_2=SNX15;refseq.name_1=NM_013306;refseq.name_2=NM_147777;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P77P;refseq.proteinCoordStr_2=p.P77P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=64556574;refseq.start_2=64556574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr11 64565666 . T G 21.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.82;MQ0=0;OQ=95.84;QD=23.96;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.326T>G;refseq.codonCoord=109;refseq.end=64565666;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_013299;refseq.name2=SAC3D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L109R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-249;refseq.start=64565666;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chr11 64565709 . T G 49.06 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=24.53;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.369T>G;refseq.codonCoord=123;refseq.end=64565709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_013299;refseq.name2=SAC3D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A123A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-206;refseq.start=64565709;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/1 chr11 64632553 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.0114510;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1034G>C;refseq.codonCoord=345;refseq.end=64632553;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_013265;refseq.name2=C11orf2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G345A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=309;refseq.start=64632553;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 64636666 . G C 6.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=95.88;QD=31.96;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.156G>C;refseq.codonCoord=52;refseq.end=64636666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_003273;refseq.name2=TM7SF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P52P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-94;refseq.start=64636666;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/1 chr11 64638834 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.677T>G;refseq.codonCoord=226;refseq.end=64638834;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_003273;refseq.name2=TM7SF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V226G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-47;refseq.start=64638834;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 64639365 . C T 137.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.24;MQ0=0;OQ=1699.21;QD=17.52;RankSumP=0.0860379;SB=-657.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.896C>T;refseq.codonCoord=299;refseq.end=64639365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_003273;refseq.name2=TM7SF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T299I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=64639365;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr11 64639444 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=22;refseq.chr=chr11;refseq.codingCoordStr=c.973+2;refseq.end=64639444;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_003273;refseq.name2=TM7SF2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=64639444;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr11 64640628 . G A 302.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.74;MQ0=0;OQ=2299.34;QD=35.93;RankSumP=1.00000;SB=-1151.50;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1074C>T;refseq.codonCoord=358;refseq.end=64640628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_014205;refseq.name2=ZNHIT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A358A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-178;refseq.start=64640628;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr11 64648635 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=8.78550e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.164C>A;refseq.codonCoord=55;refseq.end=64648635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_004927;refseq.name2=MRPL49;refseq.positionType=CDS;refseq.proteinCoordStr=p.T55N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-66;refseq.start=64648635;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr11 64654763 . A G 10.15 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=94.89;MQ0=0;QD=0.72;RankSumP=0.248485;SB=-21.89;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1050T>C;refseq.codingCoordStr_2=c.1050T>C;refseq.codonCoord_1=350;refseq.codonCoord_2=350;refseq.end_1=64654763;refseq.end_2=64654763;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1144;refseq.mrnaCoord_2=1144;refseq.name2_1=SYVN1;refseq.name2_2=SYVN1;refseq.name_1=NM_032431;refseq.name_2=NM_172230;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D350D;refseq.proteinCoordStr_2=p.D350D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=64654763;refseq.start_2=64654763;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr11 64654831 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.0626041;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.982A>C;refseq.codingCoordStr_2=c.982A>C;refseq.codonCoord_1=328;refseq.codonCoord_2=328;refseq.end_1=64654831;refseq.end_2=64654831;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=1076;refseq.name2_1=SYVN1;refseq.name2_2=SYVN1;refseq.name_1=NM_032431;refseq.name_2=NM_172230;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T328P;refseq.proteinCoordStr_2=p.T328P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=64654831;refseq.start_2=64654831;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr11 64805071 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.777T>G;refseq.codonCoord=259;refseq.end=64805071;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1109;refseq.name=NM_002689;refseq.name2=POLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C259W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=33;refseq.start=64805071;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr11 64818204 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1249G>C;refseq.codonCoord=417;refseq.end=64818204;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_002689;refseq.name2=POLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G417R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=64818204;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr11 64900651 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=22.01;MQ=98.91;MQ0=0;OQ=12941.55;QD=34.98;RankSumP=1.00000;SB=-3644.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.544A>G;refseq.codingCoordStr_2=c.670A>G;refseq.codonCoord_1=182;refseq.codonCoord_2=224;refseq.end_1=64900651;refseq.end_2=64900651;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=819;refseq.mrnaCoord_2=874;refseq.name2_1=SLC25A45;refseq.name2_2=SLC25A45;refseq.name_1=NM_001077241;refseq.name_2=NM_182556;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M182V;refseq.proteinCoordStr_2=p.M224V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=64900651;refseq.start_2=64900651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr11 64917705 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=93.70;MQ0=0;OQ=711.36;QD=8.68;RankSumP=0.350976;SB=-163.17;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.339C>T;refseq.codonCoord=113;refseq.end=64917705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_031904;refseq.name2=FRMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D113D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-17;refseq.start=64917705;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 64920933 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=89.32;MQ0=0;OQ=515.51;QD=12.57;RankSumP=0.504092;SB=-227.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.669C>T;refseq.codonCoord=223;refseq.end=64920933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=861;refseq.name=NM_031904;refseq.name2=FRMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A223A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=88;refseq.start=64920933;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 64924853 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1010A>G;refseq.codonCoord=337;refseq.end=64924853;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_031904;refseq.name2=FRMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E337G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-62;refseq.start=64924853;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 64935386 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=92.98;MQ0=0;OQ=1134.90;QD=14.55;RankSumP=0.476073;SB=-208.21;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1374C>T;refseq.codonCoord=458;refseq.end=64935386;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_031904;refseq.name2=FRMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G458G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=98;refseq.start=64935386;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr11 64968555 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=6.41;MQ=96.94;MQ0=0;OQ=235.96;QD=10.73;RankSumP=0.295904;SB=-104.60;SecondBestBaseQ=33;refseq.chr=chr11;refseq.end=64968555;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=51;refseq.name=NR_030343;refseq.name2=MIR612;refseq.positionType=non_coding_exon;refseq.spliceDist=-49;refseq.start=64968555;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr11 65067172 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.2576T>G;refseq.codingCoordStr_2=c.2225T>G;refseq.codingCoordStr_3=c.2576T>G;refseq.codonCoord_1=859;refseq.codonCoord_2=742;refseq.codonCoord_3=859;refseq.end_1=65067172;refseq.end_2=65067172;refseq.end_3=65067172;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2845;refseq.mrnaCoord_2=2841;refseq.mrnaCoord_3=2845;refseq.name2_1=LTBP3;refseq.name2_2=LTBP3;refseq.name2_3=LTBP3;refseq.name_1=NM_001130144;refseq.name_2=NM_001164266;refseq.name_3=NM_021070;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V859G;refseq.proteinCoordStr_2=p.V742G;refseq.proteinCoordStr_3=p.V859G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=65067172;refseq.start_2=65067172;refseq.start_3=65067172;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr11 65072021 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1792T>C;refseq.codingCoordStr_2=c.1441T>C;refseq.codingCoordStr_3=c.1792T>C;refseq.codonCoord_1=598;refseq.codonCoord_2=481;refseq.codonCoord_3=598;refseq.end_1=65072021;refseq.end_2=65072021;refseq.end_3=65072021;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2061;refseq.mrnaCoord_2=2057;refseq.mrnaCoord_3=2061;refseq.name2_1=LTBP3;refseq.name2_2=LTBP3;refseq.name2_3=LTBP3;refseq.name_1=NM_001130144;refseq.name_2=NM_001164266;refseq.name_3=NM_021070;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S598P;refseq.proteinCoordStr_2=p.S481P;refseq.proteinCoordStr_3=p.S598P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.start_1=65072021;refseq.start_2=65072021;refseq.start_3=65072021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr11 65095520 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=607.68;QD=9.21;RankSumP=0.298928;SB=-254.81;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.339T>G;refseq.codonCoord=113;refseq.end=65095520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_006396;refseq.name2=SSSCA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P113P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=83;refseq.start=65095520;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr11 65137492 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=97.56;MQ0=0;OQ=317.63;QD=13.23;RankSumP=0.511862;SB=-183.20;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.312C>T;refseq.codonCoord=104;refseq.end=65137492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=805;refseq.name=NM_002419;refseq.name2=MAP3K11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G104G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-428;refseq.start=65137492;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr11 65165513 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=98.75;MQ0=0;OQ=711.03;QD=12.26;RankSumP=0.508106;SB=-214.86;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.545C>T;refseq.codingCoordStr_2=c.545C>T;refseq.codonCoord_1=182;refseq.codonCoord_2=182;refseq.end_1=65165513;refseq.end_2=65165513;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=712;refseq.mrnaCoord_2=841;refseq.name2_1=SIPA1;refseq.name2_2=SIPA1;refseq.name_1=NM_006747;refseq.name_2=NM_153253;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S182F;refseq.proteinCoordStr_2=p.S182F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-135;refseq.spliceDist_2=-135;refseq.start_1=65165513;refseq.start_2=65165513;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr11 65170977 . C T 18.38 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=9;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=94.02;MQ0=0;QD=2.04;RankSumP=0.777778;SB=-32.52;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1896C>T;refseq.codingCoordStr_2=c.1896C>T;refseq.codonCoord_1=632;refseq.codonCoord_2=632;refseq.end_1=65170977;refseq.end_2=65170977;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2063;refseq.mrnaCoord_2=2192;refseq.name2_1=SIPA1;refseq.name2_2=SIPA1;refseq.name_1=NM_006747;refseq.name_2=NM_153253;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C632C;refseq.proteinCoordStr_2=p.C632C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-136;refseq.spliceDist_2=-136;refseq.start_1=65170977;refseq.start_2=65170977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=FilteredInAll GT 0/1 chr11 65171604 . T G 92.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=61.81;QD=20.60;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2205T>G;refseq.codingCoordStr_2=c.2205T>G;refseq.codonCoord_1=735;refseq.codonCoord_2=735;refseq.end_1=65171604;refseq.end_2=65171604;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2372;refseq.mrnaCoord_2=2501;refseq.name2_1=SIPA1;refseq.name2_2=SIPA1;refseq.name_1=NM_006747;refseq.name_2=NM_153253;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T735T;refseq.proteinCoordStr_2=p.T735T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.start_1=65171604;refseq.start_2=65171604;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=filterInsoap-gatk GT 1/1 chr11 65237501 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.392A>C;refseq.codingCoordStr_3=c.491A>C;refseq.codonCoord_2=131;refseq.codonCoord_3=164;refseq.end_1=65237629;refseq.end_2=65237501;refseq.end_3=65237501;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=642;refseq.mrnaCoord_3=741;refseq.name2_1=KAT5;refseq.name2_2=KAT5;refseq.name2_3=KAT5;refseq.name_1=NM_182709;refseq.name_2=NM_006388;refseq.name_3=NM_182710;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D131A;refseq.proteinCoordStr_3=p.D164A;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=65237116;refseq.start_2=65237501;refseq.start_3=65237501;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr11 65318621 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.355A>C;refseq.codonCoord=119;refseq.end=65318621;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_004561;refseq.name2=OVOL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T119P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=37;refseq.start=65318621;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 65380095 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=728;Dels=0.00;HRun=0;HaplotypeScore=35.86;MQ=97.53;MQ0=0;OQ=15567.81;QD=21.38;RankSumP=0.0117882;SB=-6398.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.198C>T;refseq.codonCoord=66;refseq.end=65380095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=432;refseq.name=NM_005507;refseq.name2=CFL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D66D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-114;refseq.start=65380095;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr11 65384910 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=95.19;MQ0=0;QD=2.82;RankSumP=0.682540;SB=-7.00;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.110G>A;refseq.codonCoord=37;refseq.end=65384910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R37H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-26;refseq.start=65384910;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr11 65386508 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.22;MQ0=0;OQ=507.87;QD=7.15;RankSumP=0.152137;SB=-126.62;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.537T>C;refseq.codonCoord=179;refseq.end=65386508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.A179A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=18;refseq.start=65386508;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr11 65386510 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=98.24;MQ0=0;OQ=779.51;QD=10.68;RankSumP=0.377608;SB=-301.27;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.539G>C;refseq.codonCoord=180;refseq.end=65386510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R180P;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=20;refseq.start=65386510;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 65387743 . C T 170.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.57;MQ0=0;OQ=1384.14;QD=14.12;RankSumP=0.333001;SB=-353.41;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.936C>T;refseq.codonCoord=312;refseq.end=65387743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.A312A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-26;refseq.start=65387743;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 65388549 . G A 371.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=7.59;MQ=99.00;MQ0=0;OQ=6289.93;QD=19.18;RankSumP=0.196983;SB=-1931.31;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1065G>A;refseq.codonCoord=355;refseq.end=65388549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1418;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R355R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=65388549;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr11 65388838 . G T 131.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.42;MQ0=0;OQ=2581.87;QD=13.88;RankSumP=0.0525225;SB=-1035.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1248G>T;refseq.codonCoord=416;refseq.end=65388838;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1601;refseq.name=NM_025128;refseq.name2=MUS81;refseq.positionType=CDS;refseq.proteinCoordStr=p.T416T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-25;refseq.start=65388838;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr11 65392608 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=3.40573e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.796T>C;refseq.codonCoord=266;refseq.end=65392608;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_016938;refseq.name2=EFEMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S266P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-52;refseq.start=65392608;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 65392629 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=22.40;MQ=97.48;MQ0=0;OQ=3617.39;QD=25.66;RankSumP=1.00000;SB=-1734.96;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.775A>G;refseq.codonCoord=259;refseq.end=65392629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_016938;refseq.name2=EFEMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I259V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=48;refseq.start=65392629;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr11 65396302 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.571429;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.100G>A;refseq.codonCoord=34;refseq.end=65396302;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_016938;refseq.name2=EFEMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D34N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-12;refseq.start=65396302;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr11 65404257 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=65404257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_001335;refseq.name2=CTSW;refseq.positionType=CDS;refseq.proteinCoordStr=p.G32G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=65404257;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 65406350 . A G 126.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=98.29;MQ0=0;OQ=5110.94;QD=28.88;RankSumP=1.00000;SB=-1854.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.415A>G;refseq.codonCoord=139;refseq.end=65406350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_001335;refseq.name2=CTSW;refseq.positionType=CDS;refseq.proteinCoordStr=p.S139G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-27;refseq.start=65406350;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 65406560 . T C 110.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=98.08;MQ0=0;OQ=8358.79;QD=30.84;RankSumP=1.00000;SB=-2915.06;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.525T>C;refseq.codonCoord=175;refseq.end=65406560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_001335;refseq.name2=CTSW;refseq.positionType=CDS;refseq.proteinCoordStr=p.D175D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-14;refseq.start=65406560;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr11 65408528 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.915A>C;refseq.codingCoordStr_2=c.936A>C;refseq.codonCoord_1=305;refseq.codonCoord_2=312;refseq.end_1=65408528;refseq.end_2=65408528;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1036;refseq.mrnaCoord_2=1057;refseq.name2_1=FIBP;refseq.name2_2=FIBP;refseq.name_1=NM_004214;refseq.name_2=NM_198897;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E305D;refseq.proteinCoordStr_2=p.E312D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=65408528;refseq.start_2=65408528;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr11 65420922 . T C 71.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.67;MQ0=0;OQ=1337.75;QD=31.11;RankSumP=1.00000;SB=-693.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.231A>G;refseq.codonCoord=77;refseq.end=65420922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_005438;refseq.name2=FOSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q77Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-67;refseq.start=65420922;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr11 65424372 . G A 7.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=53.02;QD=17.67;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=65424372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_005438;refseq.name2=FOSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F5F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-85;refseq.start=65424372;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/1 chr11 65441505 . C T 225.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=344.16;QD=34.42;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=8;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.*1G>A;refseq.codingCoordStr_2=c.*1G>A;refseq.end_1=65441505;refseq.end_2=65441505;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=912;refseq.mrnaCoord_2=909;refseq.name2_1=C11orf68;refseq.name2_2=C11orf68;refseq.name_1=NM_001135635;refseq.name_2=NM_031450;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=-646;refseq.spliceDist_2=-646;refseq.start_1=65441505;refseq.start_2=65441505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=filterInsoap-gatk GT 1/1 chr11 65441801 . T C 146.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=97.70;MQ0=0;OQ=2748.03;QD=33.51;RankSumP=1.00000;SB=-702.25;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.587A>G;refseq.codingCoordStr_2=c.584A>G;refseq.codonCoord_1=196;refseq.codonCoord_2=195;refseq.end_1=65441801;refseq.end_2=65441801;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=616;refseq.mrnaCoord_2=613;refseq.name2_1=C11orf68;refseq.name2_2=C11orf68;refseq.name_1=NM_001135635;refseq.name_2=NM_031450;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q196R;refseq.proteinCoordStr_2=p.Q195R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=465;refseq.spliceDist_2=462;refseq.start_1=65441801;refseq.start_2=65441801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr11 65489227 . G A 318.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.78;MQ0=0;OQ=2831.40;QD=34.96;RankSumP=1.00000;SB=-364.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=65489227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_005146;refseq.name2=SART1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-39;refseq.start=65489227;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 65491750 . G C 328.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=461.48;QD=38.46;RankSumP=1.00000;SB=-189.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1454G>C;refseq.codonCoord=485;refseq.end=65491750;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1546;refseq.name=NM_005146;refseq.name2=SART1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G485A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=25;refseq.start=65491750;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 65544648 . C T 408.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.19;MQ=97.82;MQ0=0;OQ=4113.20;QD=41.13;RankSumP=1.00000;SB=-1906.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1954G>A;refseq.codonCoord=652;refseq.end=65544648;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2092;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V652I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=27;refseq.start=65544648;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 65545150 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=3.20191e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1774A>C;refseq.codonCoord=592;refseq.end=65545150;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1912;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T592P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=65545150;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 65547045 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1280A>G;refseq.codonCoord=427;refseq.end=65547045;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1418;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E427G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=64;refseq.start=65547045;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr11 65547049 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1276T>G;refseq.codonCoord=426;refseq.end=65547049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1414;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W426G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=60;refseq.start=65547049;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 65547103 . G T 271.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=5.97;MQ=98.61;MQ0=0;OQ=2800.39;QD=16.19;RankSumP=0.382264;SB=-701.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1222C>A;refseq.codonCoord=408;refseq.end=65547103;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1360;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R408R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=65547103;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr11 65549742 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.685T>G;refseq.codonCoord=229;refseq.end=65549742;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S229A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-532;refseq.start=65549742;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 65550030 . C T 278.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=98.97;MQ0=0;OQ=1658.19;QD=17.27;RankSumP=0.278250;SB=-744.60;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.397G>A;refseq.codonCoord=133;refseq.end=65550030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G133S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=535;refseq.start=65550030;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr11 65550373 . G A 253.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=97.20;MQ0=0;OQ=9146.10;QD=20.83;RankSumP=0.417332;SB=-3835.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.54C>T;refseq.codonCoord=18;refseq.end=65550373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_053054;refseq.name2=CATSPER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N18N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=192;refseq.start=65550373;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 65567325 . T C 309.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.60;MQ0=0;OQ=3336.87;QD=38.80;RankSumP=1.00000;SB=-1106.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=65567325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_033036;refseq.name2=GAL3ST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V175V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=400;refseq.start=65567325;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 65583280 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=580.10;QD=13.81;RankSumP=0.606702;SB=-316.19;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1215G>A;refseq.codonCoord=405;refseq.end=65583280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_006842;refseq.name2=SF3B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K405K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=33;refseq.start=65583280;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr11 65586033 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=176;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=98.50;MQ0=0;OQ=2281.34;QD=12.96;RankSumP=0.0520125;SB=-646.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1965G>A;refseq.codonCoord=655;refseq.end=65586033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2005;refseq.name=NM_006842;refseq.name2=SF3B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S655S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-13;refseq.start=65586033;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr11 65592036 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2374A>C;refseq.codonCoord=792;refseq.end=65592036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2414;refseq.name=NM_006842;refseq.name2=SF3B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T792P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=44;refseq.start=65592036;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr11 65839705 . T C 282.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.75;MQ0=0;OQ=996.05;QD=35.57;RankSumP=1.00000;SB=-253.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1370A>G;refseq.codonCoord=457;refseq.end=65839705;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1387;refseq.name=NM_020404;refseq.name2=CD248;refseq.positionType=CDS;refseq.proteinCoordStr=p.H457R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1172;refseq.start=65839705;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr11 65840358 . G A 111 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=8.83;MQ=97.17;MQ0=0;OQ=1559.84;QD=22.94;RankSumP=1.00000;SB=-597.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.717C>T;refseq.codonCoord=239;refseq.end=65840358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_020404;refseq.name2=CD248;refseq.positionType=CDS;refseq.proteinCoordStr=p.N239N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=734;refseq.start=65840358;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr11 65856563 . C T 157.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=10.34;MQ=98.64;MQ0=0;OQ=1438.68;QD=23.20;RankSumP=1.00000;SB=-537.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2112G>A;refseq.codonCoord=704;refseq.end=65856563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2239;refseq.name=NM_004292;refseq.name2=RIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A704A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=237;refseq.start=65856563;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 65856728 . T C 139.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.66;MQ0=0;OQ=1865.97;QD=36.59;RankSumP=1.00000;SB=-433.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1947A>G;refseq.codonCoord=649;refseq.end=65856728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2074;refseq.name=NM_004292;refseq.name2=RIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E649E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=72;refseq.start=65856728;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr11 65859839 . A G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.0237607;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.352T>C;refseq.codonCoord=118;refseq.end=65859839;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_004292;refseq.name2=RIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S118P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-31;refseq.start=65859839;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr11 65864250 . A G 394.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.07;MQ0=0;OQ=6069.10;QD=35.70;RankSumP=1.00000;SB=-2013.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.546T>C;refseq.codingCoordStr_2=c.546T>C;refseq.codonCoord_1=182;refseq.codonCoord_2=182;refseq.end_1=65864250;refseq.end_2=65864250;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=693;refseq.mrnaCoord_2=693;refseq.name2_1=BRMS1;refseq.name2_2=BRMS1;refseq.name_1=NM_001024957;refseq.name_2=NM_015399;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D182D;refseq.proteinCoordStr_2=p.D182D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=65864250;refseq.start_2=65864250;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr11 65865339 . T C 41 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.09250e-09;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.272A>G;refseq.codingCoordStr_2=c.272A>G;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=65865339;refseq.end_2=65865339;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=419;refseq.name2_1=BRMS1;refseq.name2_2=BRMS1;refseq.name_1=NM_001024957;refseq.name_2=NM_015399;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E91G;refseq.proteinCoordStr_2=p.E91G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=65865339;refseq.start_2=65865339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 65865609 . T C 156.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=7.51;MQ=98.94;MQ0=0;OQ=5683.63;QD=41.19;RankSumP=1.00000;SB=-2680.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.201A>G;refseq.codingCoordStr_2=c.201A>G;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.end_1=65865609;refseq.end_2=65865609;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=348;refseq.mrnaCoord_2=348;refseq.name2_1=BRMS1;refseq.name2_2=BRMS1;refseq.name_1=NM_001024957;refseq.name_2=NM_015399;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L67L;refseq.proteinCoordStr_2=p.L67L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=65865609;refseq.start_2=65865609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr11 65871165 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.269730;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.428G>C;refseq.codonCoord=143;refseq.end=65871165;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_006876;refseq.name2=B3GNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S143T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=573;refseq.start=65871165;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 65962745 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.34;MQ0=0;OQ=334.82;QD=12.88;RankSumP=0.202952;SB=-156.15;SecondBestBaseQ=25;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.57G>A;refseq.codingCoordStr_3=c.57G>A;refseq.codonCoord_2=19;refseq.codonCoord_3=19;refseq.end_1=65962746;refseq.end_2=65962745;refseq.end_3=65962745;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=142;refseq.mrnaCoord_3=142;refseq.name2_1=MRPL11;refseq.name2_2=MRPL11;refseq.name2_3=MRPL11;refseq.name_1=NM_170738;refseq.name_2=NM_016050;refseq.name_3=NM_170739;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V19V;refseq.proteinCoordStr_3=p.V19V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=65962317;refseq.start_2=65962745;refseq.start_3=65962745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr11 66016814 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1040T>G;refseq.codingCoordStr_2=c.1040T>G;refseq.codonCoord_1=347;refseq.codonCoord_2=347;refseq.end_1=66016814;refseq.end_2=66016814;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1102;refseq.mrnaCoord_2=1105;refseq.name2_1=DPP3;refseq.name2_2=DPP3;refseq.name_1=NM_005700;refseq.name_2=NM_130443;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V347G;refseq.proteinCoordStr_2=p.V347G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=66016814;refseq.start_2=66016814;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 66028718 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=13.48;MQ=98.54;MQ0=0;OQ=5479.07;QD=14.77;RankSumP=0.152043;SB=-2046.09;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1938A>G;refseq.codingCoordStr_2=c.1938A>G;refseq.codonCoord_1=646;refseq.codonCoord_2=646;refseq.end_1=66028718;refseq.end_2=66028718;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2000;refseq.mrnaCoord_2=2003;refseq.name2_1=DPP3;refseq.name2_2=DPP3;refseq.name_1=NM_005700;refseq.name_2=NM_130443;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T646T;refseq.proteinCoordStr_2=p.T646T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=66028718;refseq.start_2=66028718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr11 66034730 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=605.78;QD=13.17;RankSumP=0.521668;SB=-239.29;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.24T>C;refseq.codonCoord=8;refseq.end=66034730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=36;refseq.name=NM_024649;refseq.name2=BBS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D8D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-24;refseq.start=66034730;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr11 66114702 . C T 339.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1986.25;QD=36.78;RankSumP=1.00000;SB=-586.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2361G>A;refseq.codonCoord=787;refseq.end=66114702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2429;refseq.name=NM_018219;refseq.name2=CCDC87;refseq.positionType=CDS;refseq.proteinCoordStr=p.L787L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-487;refseq.start=66114702;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr11 66149277 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.91244e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1354C>A;refseq.codonCoord=452;refseq.end=66149277;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1493;refseq.name=NM_006328;refseq.name2=RBM14;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q452K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-449;refseq.start=66149277;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr11 66193265 . G C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=226;Dels=0.00;HRun=1;HaplotypeScore=13.17;MQ=97.62;MQ0=0;OQ=94.65;QD=0.42;RankSumP=0.00000;SB=363.27;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.486C>G;refseq.codonCoord=162;refseq.end=66193265;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=539;refseq.name=NM_031492;refseq.name2=RBM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C162W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=74;refseq.start=66193265;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr11 66225003 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=7.00534e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3143A>G;refseq.codonCoord=1048;refseq.end=66225003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3215;refseq.name=NM_006946;refseq.name2=SPTBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1048G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=327;refseq.start=66225003;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 66228850 . T C 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.45;MQ0=0;OQ=808.72;QD=31.10;RankSumP=1.00000;SB=-96.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2473A>G;refseq.codonCoord=825;refseq.end=66228850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2545;refseq.name=NM_006946;refseq.name2=SPTBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S825G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-206;refseq.start=66228850;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 66231865 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.423315;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1351G>T;refseq.codonCoord=451;refseq.end=66231865;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1423;refseq.name=NM_006946;refseq.name2=SPTBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D451Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=66231865;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr11 66238209 . G A 258.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=98.74;MQ0=0;OQ=7621.84;QD=20.71;RankSumP=0.133190;SB=-2080.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.585C>T;refseq.codonCoord=195;refseq.end=66238209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_006946;refseq.name2=SPTBN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N195N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=66238209;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 66590828 . C T 359.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=98.74;MQ0=0;OQ=5070.37;QD=17.98;RankSumP=0.00382433;SB=-2121.04;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.264C>T;refseq.codonCoord=88;refseq.end=66590828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_014578;refseq.name2=RHOD;refseq.positionType=CDS;refseq.proteinCoordStr=p.D88D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=44;refseq.start=66590828;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 0/1 chr11 66594541 . T C 317.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.91;MQ0=0;OQ=2450.11;QD=33.11;RankSumP=1.00000;SB=-1105.72;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.400T>C;refseq.codonCoord=134;refseq.end=66594541;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_014578;refseq.name2=RHOD;refseq.positionType=CDS;refseq.proteinCoordStr=p.C134R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-66;refseq.start=66594541;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 66790842 . C A 47.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.14;MQ0=0;OQ=405.38;QD=31.18;RankSumP=1.00000;SB=-80.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.96C>A;refseq.codonCoord=32;refseq.end=66790842;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_001619;refseq.name2=ADRBK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I32I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-18;refseq.start=66790842;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 66825435 . T C 97.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=96.96;MQ0=0;OQ=1958.72;QD=26.12;RankSumP=1.00000;SB=-807.96;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1338T>C;refseq.codonCoord_2=446;refseq.end_1=66825435;refseq.end_2=66825435;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1591;refseq.mrnaCoord_2=1508;refseq.name2_1=ANKRD13D;refseq.name2_2=ANKRD13D;refseq.name_1=NR_030767;refseq.name_2=NM_207354;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V446V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=66825435;refseq.start_2=66825435;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr11 66831678 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.685G>C;refseq.codonCoord=229;refseq.end=66831678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_017857;refseq.name2=SSH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A229P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=83;refseq.start=66831678;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 66876777 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.260T>G;refseq.codonCoord_2=87;refseq.end_1=66911571;refseq.end_2=66876777;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=442;refseq.name2_1=LOC100130987;refseq.name2_2=POLD4;refseq.name_1=NR_024469;refseq.name_2=NM_021173;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V87G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-40;refseq.start_1=66845391;refseq.start_2=66876777;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 66920417 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.842A>C;refseq.codonCoord=281;refseq.end=66920417;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_004584;refseq.name2=RAD9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H281P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-31;refseq.start=66920417;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 66956648 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.459T>G;refseq.codonCoord=153;refseq.end=66956648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_003952;refseq.name2=RPS6KB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G153G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=66956648;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 66957395 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=3.27;MQ=98.86;MQ0=0;OQ=1529.14;QD=14.85;RankSumP=0.334477;SB=-306.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.807C>T;refseq.codonCoord=269;refseq.end=66957395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=889;refseq.name=NM_003952;refseq.name2=RPS6KB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F269F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=66957395;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 66958732 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=836.69;QD=13.28;RankSumP=0.501699;SB=-147.59;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1259C>T;refseq.codonCoord=420;refseq.end=66958732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_003952;refseq.name2=RPS6KB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A420V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=66958732;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr11 66975441 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00598725;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1331A>C;refseq.codonCoord=444;refseq.end=66975441;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1336;refseq.name=NM_206997;refseq.name2=GPR152;refseq.positionType=CDS;refseq.proteinCoordStr=p.D444A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-94;refseq.start=66975441;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 67014399 . C A 276.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=98.63;MQ0=0;OQ=5935.77;QD=35.76;RankSumP=1.00000;SB=-2695.50;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.682C>A;refseq.codonCoord=228;refseq.end=67014399;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_003977;refseq.name2=AIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q228K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=67014399;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 67014967 . A G 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=2.27;MQ=97.81;MQ0=0;OQ=1537.56;QD=31.38;RankSumP=1.00000;SB=-442.50;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.920A>G;refseq.codonCoord=307;refseq.end=67014967;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_003977;refseq.name2=AIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q307R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=133;refseq.start=67014967;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 67020343 . A G 152.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=4.70;MQ=98.43;MQ0=0;OQ=3585.87;QD=31.73;RankSumP=1.00000;SB=-1555.94;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2196T>C;refseq.codingCoordStr_2=c.2199T>C;refseq.codonCoord_1=732;refseq.codonCoord_2=733;refseq.end_1=67020343;refseq.end_2=67020343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2422;refseq.mrnaCoord_2=2425;refseq.name2_1=PITPNM1;refseq.name2_2=PITPNM1;refseq.name_1=NM_001130848;refseq.name_2=NM_004910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A732A;refseq.proteinCoordStr_2=p.A733A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=50;refseq.spliceDist_2=53;refseq.start_1=67020343;refseq.start_2=67020343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr11 67045170 . C T 275.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.51;MQ0=0;OQ=2482.31;QD=19.39;RankSumP=0.199596;SB=-741.24;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.281G>A;refseq.codingCoordStr_2=c.110G>A;refseq.codonCoord_1=94;refseq.codonCoord_2=37;refseq.end_1=67045170;refseq.end_2=67045170;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=212;refseq.name2_1=CABP2;refseq.name2_2=CABP2;refseq.name_1=NM_016366;refseq.name_2=NM_031204;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R94Q;refseq.proteinCoordStr_2=p.R37Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=67045170;refseq.start_2=67045170;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr11 67109265 . A G 334.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=98.33;MQ0=0;OQ=4255.88;QD=17.09;RankSumP=0.410990;SB=-1244.44;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.313A>G;refseq.codonCoord=105;refseq.end=67109265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_000852;refseq.name2=GSTP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I105V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-24;refseq.start=67109265;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr11 67110155 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=743.69;QD=12.39;RankSumP=0.157517;SB=-271.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.341C>T;refseq.codonCoord=114;refseq.end=67110155;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_000852;refseq.name2=GSTP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A114V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=67110155;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 67110546 . T C 248.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.10;MQ0=0;OQ=2732.24;QD=14.61;RankSumP=0.0511408;SB=-1320.81;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.555T>C;refseq.codonCoord=185;refseq.end=67110546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_000852;refseq.name2=GSTP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S185S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=111;refseq.start=67110546;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr11 67158938 . T G 123.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.80;MQ0=0;OQ=1093.31;QD=12.71;RankSumP=0.487319;SB=-488.74;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.302A>C;refseq.codonCoord=101;refseq.end=67158938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_005995;refseq.name2=TBX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.K101T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=27;refseq.start=67158938;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 67171068 . C T 99.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=80.16;MQ0=0;OQ=136.34;QD=22.72;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.23G>A;refseq.codonCoord=8;refseq.end=67171068;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_080658;refseq.name2=ACY3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=43;refseq.start=67171068;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr11 67187338 . T C 40.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.07;MQ0=0;OQ=1086.15;QD=27.15;RankSumP=1.00000;SB=-384.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1082A>G;refseq.codingCoordStr_2=c.1082A>G;refseq.codonCoord_1=361;refseq.codonCoord_2=361;refseq.end_1=67187338;refseq.end_2=67187338;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1521;refseq.mrnaCoord_2=1365;refseq.name2_1=ALDH3B2;refseq.name2_2=ALDH3B2;refseq.name_1=NM_000695;refseq.name_2=NM_001031615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H361R;refseq.proteinCoordStr_2=p.H361R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=67187338;refseq.start_2=67187338;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr11 67189375 . G A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=101;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=79.74;MQ0=0;OQ=652.91;QD=6.46;RankSumP=0.212661;SB=-112.67;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.663C>T;refseq.codingCoordStr_2=c.663C>T;refseq.codonCoord_1=221;refseq.codonCoord_2=221;refseq.end_1=67189375;refseq.end_2=67189375;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1102;refseq.mrnaCoord_2=946;refseq.name2_1=ALDH3B2;refseq.name2_2=ALDH3B2;refseq.name_1=NM_000695;refseq.name_2=NM_001031615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R221R;refseq.proteinCoordStr_2=p.R221R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=67189375;refseq.start_2=67189375;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr11 67189380 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=5.36;MQ=78.91;MQ0=0;OQ=3228.29;QD=31.65;RankSumP=1.00000;SB=-423.34;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.658A>G;refseq.codingCoordStr_2=c.658A>G;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.end_1=67189380;refseq.end_2=67189380;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1097;refseq.mrnaCoord_2=941;refseq.name2_1=ALDH3B2;refseq.name2_2=ALDH3B2;refseq.name_1=NM_000695;refseq.name_2=NM_001031615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S220G;refseq.proteinCoordStr_2=p.S220G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=67189380;refseq.start_2=67189380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr11 67189430 . T C 107.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=13.46;MQ=69.29;MQ0=25;OQ=3821.30;QD=23.88;RankSumP=1.00000;SB=-1372.26;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.608A>G;refseq.codingCoordStr_2=c.608A>G;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.end_1=67189430;refseq.end_2=67189430;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1047;refseq.mrnaCoord_2=891;refseq.name2_1=ALDH3B2;refseq.name2_2=ALDH3B2;refseq.name_1=NM_000695;refseq.name_2=NM_001031615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H203R;refseq.proteinCoordStr_2=p.H203R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.start_1=67189430;refseq.start_2=67189430;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr11 67190445 . C T 236.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=943.49;QD=37.74;RankSumP=1.00000;SB=-366.98;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.155G>A;refseq.codingCoordStr_2=c.155G>A;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.end_1=67190445;refseq.end_2=67190445;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=594;refseq.mrnaCoord_2=438;refseq.name2_1=ALDH3B2;refseq.name2_2=ALDH3B2;refseq.name_1=NM_000695;refseq.name_2=NM_001031615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S52N;refseq.proteinCoordStr_2=p.S52N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=67190445;refseq.start_2=67190445;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr11 67571555 . G C 55.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=98.68;MQ0=0;OQ=4653.85;QD=47.49;RankSumP=1.00000;SB=-1485.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1245G>C;refseq.codingCoordStr_2=c.597G>C;refseq.codonCoord_1=415;refseq.codonCoord_2=199;refseq.end_1=67571555;refseq.end_2=67571555;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1133;refseq.name2_1=TCIRG1;refseq.name2_2=TCIRG1;refseq.name_1=NM_006019;refseq.name_2=NM_006053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L415L;refseq.proteinCoordStr_2=p.L199L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=67571555;refseq.start_2=67571555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr11 67573230 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1780T>G;refseq.codingCoordStr_2=c.1132T>G;refseq.codonCoord_1=594;refseq.codonCoord_2=378;refseq.end_1=67573230;refseq.end_2=67573230;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1888;refseq.mrnaCoord_2=1668;refseq.name2_1=TCIRG1;refseq.name2_2=TCIRG1;refseq.name_1=NM_006019;refseq.name_2=NM_006053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C594G;refseq.proteinCoordStr_2=p.C378G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.start_1=67573230;refseq.start_2=67573230;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr11 67714094 . A T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=887;Dels=0.00;HRun=1;HaplotypeScore=10.92;MQ=98.68;MQ0=0;OQ=35536.72;QD=40.06;RankSumP=1.00000;SB=-14570.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.26T>A;refseq.codingCoordStr_2=c.26T>A;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=67714094;refseq.end_2=67714094;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=282;refseq.mrnaCoord_2=282;refseq.name2_1=SUV420H1;refseq.name2_2=SUV420H1;refseq.name_1=NM_016028;refseq.name_2=NM_017635;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I9N;refseq.proteinCoordStr_2=p.I9N;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=102;refseq.spliceDist_2=102;refseq.start_1=67714094;refseq.start_2=67714094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr11 67786591 . C T 191.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=96.47;MQ0=0;OQ=727.57;QD=15.82;RankSumP=0.173186;SB=-254.27;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.448G>A;refseq.codonCoord=150;refseq.end=67786591;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_022338;refseq.name2=C11orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.A150T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=372;refseq.start=67786591;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr11 67786749 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=9.89;MQ=98.45;MQ0=0;OQ=2950.65;QD=12.72;RankSumP=0.419688;SB=-772.18;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.290G>T;refseq.codonCoord=97;refseq.end=67786749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=732;refseq.name=NM_022338;refseq.name2=C11orf24;refseq.positionType=CDS;refseq.proteinCoordStr=p.G97V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=214;refseq.start=67786749;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 67927589 . T C 208.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.55;MQ0=0;OQ=10652.00;QD=35.16;RankSumP=1.00000;SB=-5033.18;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1647T>C;refseq.codonCoord=549;refseq.end=67927589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1722;refseq.name=NM_002335;refseq.name2=LRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F549F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=63;refseq.start=67927589;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr11 67934086 . C T 334.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=4.61;MQ=98.71;MQ0=0;OQ=4727.19;QD=18.47;RankSumP=0.419649;SB=-1106.69;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2220C>T;refseq.codonCoord=740;refseq.end=67934086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2295;refseq.name=NM_002335;refseq.name2=LRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N740N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-99;refseq.start=67934086;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 67949266 . G A 210.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.82;MQ0=0;OQ=1635.20;QD=16.03;RankSumP=0.308800;SB=-440.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3357G>A;refseq.codonCoord=1119;refseq.end=67949266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3432;refseq.name=NM_002335;refseq.name2=LRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1119V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-71;refseq.start=67949266;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr11 67957871 . C T 129.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=477.34;QD=14.46;RankSumP=0.481201;SB=-157.69;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3989C>T;refseq.codonCoord=1330;refseq.end=67957871;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4064;refseq.name=NM_002335;refseq.name2=LRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1330V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=67957871;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 67963949 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.219625;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4477C>T;refseq.codonCoord=1493;refseq.end=67963949;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4552;refseq.name=NM_002335;refseq.name2=LRP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1493L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-12;refseq.start=67963949;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr11 68305916 . A G 233.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=585;Dels=0.00;HRun=0;HaplotypeScore=12.74;MQ=98.84;MQ0=0;OQ=22565.32;QD=38.57;RankSumP=1.00000;SB=-6207.49;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1251T>C;refseq.codingCoordStr_2=c.1251T>C;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.end_1=68305916;refseq.end_2=68305916;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1421;refseq.mrnaCoord_2=1421;refseq.name2_1=CPT1A;refseq.name2_2=CPT1A;refseq.name_1=NM_001031847;refseq.name_2=NM_001876;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F417F;refseq.proteinCoordStr_2=p.F417F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=68305916;refseq.start_2=68305916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr11 68417461 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.435C>A;refseq.codingCoordStr_2=c.180C>A;refseq.codonCoord_1=145;refseq.codonCoord_2=60;refseq.end_1=68417461;refseq.end_2=68417461;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=460;refseq.mrnaCoord_2=473;refseq.name2_1=MRPL21;refseq.name2_2=MRPL21;refseq.name_1=NM_181514;refseq.name_2=NM_181515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G145G;refseq.proteinCoordStr_2=p.G60G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=68417461;refseq.start_2=68417461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr11 68427995 . C T 83.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=88.14;QD=22.03;RankSumP=0.600000;SB=-10.00;SecondBestBaseQ=34;refseq.chr=chr11;refseq.codingCoordStr=c.-2C>T;refseq.end=68427995;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=101;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=utr5;refseq.spliceDist=-88;refseq.start=68427995;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr11 68428053 . T C 37.83 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=18.92;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=68428053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L19L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-30;refseq.start=68428053;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/1 chr11 68435538 . T C 318.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=98.83;MQ0=0;OQ=5447.04;QD=37.83;RankSumP=1.00000;SB=-800.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.602T>C;refseq.codonCoord=201;refseq.end=68435538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L201S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=55;refseq.start=68435538;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr11 68438978 . A G 312.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=13.80;MQ=98.90;MQ0=0;OQ=5284.15;QD=19.15;RankSumP=0.294691;SB=-1797.26;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.823A>G;refseq.codonCoord=275;refseq.end=68438978;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I275V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-90;refseq.start=68438978;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr11 68458524 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=98.85;MQ0=0;OQ=1428.71;QD=18.32;RankSumP=0.275761;SB=-350.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1554C>T;refseq.codonCoord=518;refseq.end=68458524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1656;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V518V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=17;refseq.start=68458524;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr11 68460604 . C T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.85;MQ0=0;OQ=202.24;QD=10.11;RankSumP=0.164103;SB=-105.93;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2080C>T;refseq.codonCoord=694;refseq.end=68460604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2182;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R694W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=324;refseq.start=68460604;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr11 68462250 . C A 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=1;HaplotypeScore=71.30;MQ=98.18;MQ0=0;OQ=5245.21;QD=11.50;RankSumP=7.70059e-05;SB=-1488.64;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2636C>A;refseq.codonCoord=879;refseq.end=68462250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2738;refseq.name=NM_002180;refseq.name2=IGHMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T879K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=25;refseq.start=68462250;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr11 68504579 . T C 295.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=5643.40;QD=38.13;RankSumP=1.00000;SB=-2780.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.453A>G;refseq.codonCoord=151;refseq.end=68504579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_198923;refseq.name2=MRGPRD;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=453;refseq.start=68504579;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 68533899 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=2;HaplotypeScore=3.19;MQ=97.98;MQ0=0;OQ=1404.97;QD=12.11;RankSumP=0.0957621;SB=-564.99;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.47A>G;refseq.codingCoordStr_2=c.47A>G;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.end_1=68533899;refseq.end_2=68533899;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=414;refseq.mrnaCoord_2=403;refseq.name2_1=MRGPRF;refseq.name2_2=MRGPRF;refseq.name_1=NM_001098515;refseq.name_2=NM_145015;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K16R;refseq.proteinCoordStr_2=p.K16R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=68533899;refseq.start_2=68533899;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr11 68579315 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=312;Dels=0.00;HRun=3;HaplotypeScore=14.30;MQ=98.65;MQ0=0;OQ=11162.64;QD=35.78;RankSumP=1.00000;SB=-2031.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.348T>C;refseq.codonCoord=116;refseq.end=68579315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A116A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-82;refseq.start=68579315;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 68587940 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=134;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=98.27;MQ0=0;OQ=1979.20;QD=14.77;RankSumP=0.276929;SB=-578.07;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.655G>A;refseq.codonCoord=219;refseq.end=68587940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V219I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=68587940;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr11 68596973 . T C 194.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=8.78;MQ=98.91;MQ0=0;OQ=4236.41;QD=15.93;RankSumP=0.419566;SB=-1151.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1158T>C;refseq.codonCoord=386;refseq.end=68596973;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y386Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=15;refseq.start=68596973;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr11 68596988 . C G 226.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=98.92;MQ0=0;OQ=6497.41;QD=20.24;RankSumP=0.0505133;SB=-2454.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1173C>G;refseq.codonCoord=391;refseq.end=68596988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L391L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=30;refseq.start=68596988;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 68602975 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=13.79;MQ=98.72;MQ0=0;OQ=2693.69;QD=12.89;RankSumP=0.261328;SB=-1123.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1450A>T;refseq.codonCoord=484;refseq.end=68602975;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M484L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=40;refseq.start=68602975;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr11 68607990 . T C 252.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=7.05;MQ=98.75;MQ0=0;OQ=7483.61;QD=36.68;RankSumP=1.00000;SB=-2147.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1691T>C;refseq.codonCoord=564;refseq.end=68607990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1807;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L564P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=68607990;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 68608042 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=236;Dels=0.00;HRun=3;HaplotypeScore=11.87;MQ=98.63;MQ0=0;OQ=4094.67;QD=17.35;RankSumP=0.329940;SB=-1375.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1743G>T;refseq.codonCoord=581;refseq.end=68608042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1859;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A581A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-19;refseq.start=68608042;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 68610588 . A G 222.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=98.51;MQ0=0;OQ=5231.74;QD=19.31;RankSumP=0.128555;SB=-1927.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2025A>G;refseq.codonCoord=675;refseq.end=68610588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2141;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V675V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=22;refseq.start=68610588;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 68611939 . G A 294.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=4.34;MQ=98.54;MQ0=0;OQ=1827.23;QD=17.57;RankSumP=0.0275655;SB=-747.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2201G>A;refseq.codonCoord=734;refseq.end=68611939;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2317;refseq.name=NM_139075;refseq.name2=TPCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G734E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=21;refseq.start=68611939;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr11 68819712 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=22.30;MQ=98.55;MQ0=0;OQ=2148.38;QD=10.13;RankSumP=0.430857;SB=-713.66;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.219C>T;refseq.codonCoord=73;refseq.end=68819712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_138768;refseq.name2=MYEOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.A73A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=78;refseq.start=68819712;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr11 68819969 . T C 122.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.94;MQ0=0;OQ=668.04;QD=13.63;RankSumP=0.619361;SB=-344.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.476T>C;refseq.codonCoord=159;refseq.end=68819969;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_138768;refseq.name2=MYEOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.V159A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=335;refseq.start=68819969;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 68820086 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=2;HaplotypeScore=4.71;MQ=98.30;MQ0=0;OQ=1630.02;QD=14.17;RankSumP=0.0158760;SB=-509.42;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.593G>A;refseq.codonCoord=198;refseq.end=68820086;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_138768;refseq.name2=MYEOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.R198Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=452;refseq.start=68820086;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr11 68820304 . G C 235.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.77;MQ0=0;OQ=1421.76;QD=20.31;RankSumP=0.0774719;SB=-592.73;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.811G>C;refseq.codonCoord=271;refseq.end=68820304;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_138768;refseq.name2=MYEOV;refseq.positionType=CDS;refseq.proteinCoordStr=p.G271R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=670;refseq.start=68820304;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr11 69172091 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.82;MQ0=0;OQ=4777.93;QD=23.19;RankSumP=0.148296;SB=-827.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.723G>A;refseq.codonCoord=241;refseq.end=69172091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_053056;refseq.name2=CCND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P241P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=69172091;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr11 69853999 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1003G>A;refseq.codingCoordStr_2=c.1003G>A;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.end_1=69853999;refseq.end_2=69853999;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1201;refseq.mrnaCoord_2=1201;refseq.name2_1=PPFIA1;refseq.name2_2=PPFIA1;refseq.name_1=NM_003626;refseq.name_2=NM_177423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E335K;refseq.proteinCoordStr_2=p.E335K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=69853999;refseq.start_2=69853999;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr11 69855727 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1091A>C;refseq.codingCoordStr_2=c.1091A>C;refseq.codonCoord_1=364;refseq.codonCoord_2=364;refseq.end_1=69855727;refseq.end_2=69855727;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1289;refseq.mrnaCoord_2=1289;refseq.name2_1=PPFIA1;refseq.name2_2=PPFIA1;refseq.name_1=NM_003626;refseq.name_2=NM_177423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N364T;refseq.proteinCoordStr_2=p.N364T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=69855727;refseq.start_2=69855727;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr11 69859435 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1415C>G;refseq.codingCoordStr_2=c.1415C>G;refseq.codonCoord_1=472;refseq.codonCoord_2=472;refseq.end_1=69859435;refseq.end_2=69859435;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1613;refseq.mrnaCoord_2=1613;refseq.name2_1=PPFIA1;refseq.name2_2=PPFIA1;refseq.name_1=NM_003626;refseq.name_2=NM_177423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A472G;refseq.proteinCoordStr_2=p.A472G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=69859435;refseq.start_2=69859435;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr11 69862973 . C T 228.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=13.16;MQ=98.71;MQ0=0;OQ=5172.72;QD=18.21;RankSumP=0.301294;SB=-1990.38;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1620C>T;refseq.codingCoordStr_2=c.1620C>T;refseq.codonCoord_1=540;refseq.codonCoord_2=540;refseq.end_1=69862973;refseq.end_2=69862973;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1818;refseq.mrnaCoord_2=1818;refseq.name2_1=PPFIA1;refseq.name2_2=PPFIA1;refseq.name_1=NM_003626;refseq.name_2=NM_177423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D540D;refseq.proteinCoordStr_2=p.D540D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=69862973;refseq.start_2=69862973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr11 69878177 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=5.84;MQ=98.90;MQ0=0;OQ=1642.02;QD=13.35;RankSumP=0.211945;SB=-536.53;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2286C>T;refseq.codingCoordStr_2=c.2286C>T;refseq.codonCoord_1=762;refseq.codonCoord_2=762;refseq.end_1=69878177;refseq.end_2=69878177;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2484;refseq.mrnaCoord_2=2484;refseq.name2_1=PPFIA1;refseq.name2_2=PPFIA1;refseq.name_1=NM_003626;refseq.name_2=NM_177423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V762V;refseq.proteinCoordStr_2=p.V762V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=69878177;refseq.start_2=69878177;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr11 69931123 . C T 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=99.00;MQ0=0;OQ=72.77;QD=9.10;RankSumP=0.190476;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.72C>T;refseq.codingCoordStr_2=c.72C>T;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=69931123;refseq.end_2=69931123;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=278;refseq.mrnaCoord_2=246;refseq.name2_1=CTTN;refseq.name2_2=CTTN;refseq.name_1=NM_005231;refseq.name_2=NM_138565;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T24T;refseq.proteinCoordStr_2=p.T24T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=69931123;refseq.start_2=69931123;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr11 69996862 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3546A>C;refseq.codonCoord=1182;refseq.end=69996862;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3597;refseq.name=NM_133266;refseq.name2=SHANK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1182H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=331;refseq.start=69996862;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr11 70824225 . G A 71.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=95.70;MQ0=0;OQ=1004.43;QD=23.36;RankSumP=1.00000;SB=-311.91;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1272C>T;refseq.codingCoordStr_2=c.1272C>T;refseq.codonCoord_1=424;refseq.codonCoord_2=424;refseq.end_1=70824225;refseq.end_2=70824225;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1522;refseq.mrnaCoord_2=1545;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G424G;refseq.proteinCoordStr_2=p.G424G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=309;refseq.spliceDist_2=309;refseq.start_1=70824225;refseq.start_2=70824225;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr11 70824339 . A G 129.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=97.88;MQ0=0;OQ=3523.82;QD=30.91;RankSumP=1.00000;SB=-1216.16;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1158T>C;refseq.codingCoordStr_2=c.1158T>C;refseq.codonCoord_1=386;refseq.codonCoord_2=386;refseq.end_1=70824339;refseq.end_2=70824339;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1408;refseq.mrnaCoord_2=1431;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D386D;refseq.proteinCoordStr_2=p.D386D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=195;refseq.spliceDist_2=195;refseq.start_1=70824339;refseq.start_2=70824339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr11 70824485 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.55;MQ0=0;OQ=1033.88;QD=14.98;RankSumP=0.128157;SB=-397.42;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1012G>A;refseq.codingCoordStr_2=c.1012G>A;refseq.codonCoord_1=338;refseq.codonCoord_2=338;refseq.end_1=70824485;refseq.end_2=70824485;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1262;refseq.mrnaCoord_2=1285;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V338M;refseq.proteinCoordStr_2=p.V338M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=70824485;refseq.start_2=70824485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr11 70830109 . A G 385.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.07;MQ0=0;OQ=3334.03;QD=39.69;RankSumP=1.00000;SB=-779.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.438T>C;refseq.codingCoordStr_2=c.438T>C;refseq.codonCoord_1=146;refseq.codonCoord_2=146;refseq.end_1=70830109;refseq.end_2=70830109;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=711;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N146N;refseq.proteinCoordStr_2=p.N146N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=70830109;refseq.start_2=70830109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr11 70832801 . A G 122.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=98.84;MQ0=0;OQ=2427.19;QD=26.67;RankSumP=1.00000;SB=-1197.49;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.207T>C;refseq.codingCoordStr_2=c.207T>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=70832801;refseq.end_2=70832801;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=480;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T69T;refseq.proteinCoordStr_2=p.T69T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=70832801;refseq.start_2=70832801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr11 70832819 . C T 83.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=5.87;MQ=98.26;MQ0=0;OQ=2088.85;QD=25.79;RankSumP=1.00000;SB=-719.34;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.189G>A;refseq.codingCoordStr_2=c.189G>A;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=70832819;refseq.end_2=70832819;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=439;refseq.mrnaCoord_2=462;refseq.name2_1=DHCR7;refseq.name2_2=DHCR7;refseq.name_1=NM_001163817;refseq.name_2=NM_001360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q63Q;refseq.proteinCoordStr_2=p.Q63Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.start_1=70832819;refseq.start_2=70832819;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr11 70847195 . G C 138.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=10.43;MQ=98.62;MQ0=0;OQ=16471.11;QD=46.40;RankSumP=1.00000;SB=-6771.40;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.220G>C;refseq.codonCoord=74;refseq.end=70847195;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_018161;refseq.name2=NADSYN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V74L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-44;refseq.start=70847195;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 70862326 . A C 394.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=98.55;MQ0=0;OQ=3483.63;QD=36.67;RankSumP=1.00000;SB=-931.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.612A>C;refseq.codonCoord=204;refseq.end=70862326;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_018161;refseq.name2=NADSYN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q204H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-55;refseq.start=70862326;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 70863127 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=15.90;MQ=98.56;MQ0=0;OQ=8208.69;QD=26.57;RankSumP=1.00000;SB=-942.41;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.705T>C;refseq.codonCoord=235;refseq.end=70863127;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_018161;refseq.name2=NADSYN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C235C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=39;refseq.start=70863127;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 70863166 . T C 209.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=11.04;MQ=98.46;MQ0=0;OQ=16271.68;QD=36.32;RankSumP=1.00000;SB=-6986.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.744T>C;refseq.codonCoord=248;refseq.end=70863166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_018161;refseq.name2=NADSYN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I248I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-55;refseq.start=70863166;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr11 70916287 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=0;HaplotypeScore=47.58;MQ=67.71;MQ0=14;OQ=695.95;QD=3.36;SB=81.75;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.293A>G;refseq.codonCoord=98;refseq.end=70916287;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_001012503;refseq.name2=KRTAP5-7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y98C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=327;refseq.start=70916287;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:156,42:97:-102.09,-29.22,-290.44:99 chr11 70916293 . C A 17.60 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=223;Dels=0.00;HRun=0;HaplotypeScore=50.48;MQ=68.31;MQ0=14;QD=0.08;SB=65.41;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.299C>A;refseq.codonCoord=100;refseq.end=70916293;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_001012503;refseq.name2=KRTAP5-7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P100H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=333;refseq.start=70916293;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:203,20:111:-38.46,-33.42,-399.98:50.36 chr11 70916323 . C G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.305265;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.329C>G;refseq.codonCoord=110;refseq.end=70916323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_001012503;refseq.name2=KRTAP5-7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S110C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=363;refseq.start=70916323;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr11 70916333 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=1;HaplotypeScore=50.97;MQ=71.72;MQ0=12;OQ=52.65;QD=0.21;SB=10.15;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.339G>A;refseq.codonCoord=113;refseq.end=70916333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_001012503;refseq.name2=KRTAP5-7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q113Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=373;refseq.start=70916333;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:218,26:173:-60.65,-52.10,-654.78:85.49 chr11 70926800 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=231;Dels=0.00;HRun=0;HaplotypeScore=32.98;MQ=66.77;MQ0=14;OQ=53.50;QD=0.23;RankSumP=0.256901;SB=134.44;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.51C>T;refseq.codonCoord=17;refseq.end=70926800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=82;refseq.name=NM_021046;refseq.name2=KRTAP5-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C17C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=82;refseq.start=70926800;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap-filterIngatk GT 0/1 chr11 70926806 . T C 54 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.000826557;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=70926806;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_021046;refseq.name2=KRTAP5-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S19S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=88;refseq.start=70926806;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr11 70926831 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=31.61;MQ=57.42;MQ0=20;OQ=1866.51;QD=6.04;RankSumP=0.183346;SB=-452.11;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.82T>C;refseq.codonCoord=28;refseq.end=70926831;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_021046;refseq.name2=KRTAP5-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C28R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=113;refseq.start=70926831;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/0 chr11 70927034 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=26.87;MQ=47.28;MQ0=99;OQ=2074.70;QD=10.75;RankSumP=1.00000;SB=-902.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.285T>C;refseq.codonCoord=95;refseq.end=70927034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_021046;refseq.name2=KRTAP5-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C95C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=316;refseq.start=70927034;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 70954280 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=7.82;MQ=64.97;MQ0=36;OQ=1767.95;QD=7.10;RankSumP=0.0982148;SB=-661.26;SecondBestBaseQ=31;refseq.chr=chr11;refseq.codingCoordStr=c.-2T>C;refseq.end=70954280;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=24;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=utr5;refseq.spliceDist=24;refseq.start=70954280;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr11 70954299 . C G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=9.83866e-06;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.18C>G;refseq.codonCoord=6;refseq.end=70954299;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=43;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C6W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=43;refseq.start=70954299;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr11 70954300 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.19T>G;refseq.codonCoord=7;refseq.end=70954300;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=44;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S7A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=44;refseq.start=70954300;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 70954303 . G A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.0893160;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.22G>A;refseq.codonCoord=8;refseq.end=70954303;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=47;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G8R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=47;refseq.start=70954303;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr11 70954417 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=313;Dels=0.00;HRun=0;HaplotypeScore=23.07;MQ=43.63;MQ0=127;OQ=1107.56;QD=3.54;RankSumP=0.145133;SB=-336.84;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.136G>A;refseq.codonCoord=46;refseq.end=70954417;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V46I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=161;refseq.start=70954417;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr11 70954479 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=392;Dels=0.00;HRun=0;HaplotypeScore=26.43;MQ=56.63;MQ0=125;OQ=2712.73;QD=6.92;RankSumP=0.433833;SB=-359.51;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.198C>G;refseq.codonCoord=66;refseq.end=70954479;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.S66S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=223;refseq.start=70954479;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap-filterIngatk GT 1/0 chr11 70954587 . G A 3 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=86;Dels=0.00;HRun=0;HaplotypeScore=16.58;MQ=71.20;MQ0=8;OQ=66.12;QD=0.77;RankSumP=0.128215;SB=38.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.306G>A;refseq.codonCoord=102;refseq.end=70954587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_001012710;refseq.name2=KRTAP5-10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G102G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=331;refseq.start=70954587;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 1/0 chr11 70971286 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.246C>G;refseq.codonCoord=82;refseq.end=70971286;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_001005405;refseq.name2=KRTAP5-11;refseq.positionType=CDS;refseq.proteinCoordStr=p.C82W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=284;refseq.start=70971286;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr11 71176239 . C G 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=61.54;MQ0=0;OQ=150.45;QD=30.09;RankSumP=1.00000;SB=-100.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.9C>G;refseq.codingCoordStr_2=c.9C>G;refseq.codingCoordStr_3=c.9C>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.end_1=71176239;refseq.end_2=71176239;refseq.end_3=71176239;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=35;refseq.mrnaCoord_2=35;refseq.mrnaCoord_3=35;refseq.name2_1=FAM86C;refseq.name2_2=FAM86C;refseq.name2_3=FAM86C;refseq.name_1=NM_001099653;refseq.name_2=NM_018172;refseq.name_3=NM_152563;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P3P;refseq.proteinCoordStr_2=p.P3P;refseq.proteinCoordStr_3=p.P3P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=71176239;refseq.start_2=71176239;refseq.start_3=71176239;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=filterInsoap-gatk GT 1/1 chr11 71176249 . G T 12.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=64.98;MQ0=0;OQ=161.03;QD=26.84;RankSumP=1.00000;SB=-79.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.19G>T;refseq.codingCoordStr_2=c.19G>T;refseq.codingCoordStr_3=c.19G>T;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.codonCoord_3=7;refseq.end_1=71176249;refseq.end_2=71176249;refseq.end_3=71176249;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=45;refseq.mrnaCoord_2=45;refseq.mrnaCoord_3=45;refseq.name2_1=FAM86C;refseq.name2_2=FAM86C;refseq.name2_3=FAM86C;refseq.name_1=NM_001099653;refseq.name_2=NM_018172;refseq.name_3=NM_152563;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A7S;refseq.proteinCoordStr_2=p.A7S;refseq.proteinCoordStr_3=p.A7S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=71176249;refseq.start_2=71176249;refseq.start_3=71176249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=filterInsoap-gatk GT 1/1 chr11 71176296 . A G 37.83 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=10;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=64.31;MQ0=0;QD=7.57;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.66A>G;refseq.codingCoordStr_2=c.66A>G;refseq.codingCoordStr_3=c.66A>G;refseq.codonCoord_1=22;refseq.codonCoord_2=22;refseq.codonCoord_3=22;refseq.end_1=71176296;refseq.end_2=71176296;refseq.end_3=71176296;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=92;refseq.mrnaCoord_2=92;refseq.mrnaCoord_3=92;refseq.name2_1=FAM86C;refseq.name2_2=FAM86C;refseq.name2_3=FAM86C;refseq.name_1=NM_001099653;refseq.name_2=NM_018172;refseq.name_3=NM_152563;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A22A;refseq.proteinCoordStr_2=p.A22A;refseq.proteinCoordStr_3=p.A22A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=71176296;refseq.start_2=71176296;refseq.start_3=71176296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=FilteredInAll GT 1/1 chr11 71176319 . G C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.74;MQ0=0;OQ=161.90;QD=32.38;RankSumP=1.00000;SB=-57.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.89G>C;refseq.codingCoordStr_2=c.89G>C;refseq.codingCoordStr_3=c.89G>C;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.codonCoord_3=30;refseq.end_1=71176319;refseq.end_2=71176319;refseq.end_3=71176319;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=115;refseq.mrnaCoord_2=115;refseq.mrnaCoord_3=115;refseq.name2_1=FAM86C;refseq.name2_2=FAM86C;refseq.name2_3=FAM86C;refseq.name_1=NM_001099653;refseq.name_2=NM_018172;refseq.name_3=NM_152563;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R30P;refseq.proteinCoordStr_2=p.R30P;refseq.proteinCoordStr_3=p.R30P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=71176319;refseq.start_2=71176319;refseq.start_3=71176319;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=filterInsoap-gatk GT 1/1 chr11 71182123 . T C 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.100000;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.209T>C;refseq.codonCoord_3=70;refseq.end_1=71184700;refseq.end_2=71184700;refseq.end_3=71182123;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=235;refseq.name2_1=FAM86C;refseq.name2_2=FAM86C;refseq.name2_3=FAM86C;refseq.name_1=NM_152563;refseq.name_2=NM_001099653;refseq.name_3=NM_018172;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V70A;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_3=50;refseq.start_1=71178550;refseq.start_2=71180524;refseq.start_3=71182123;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCG;set=soap GT 1/0 chr11 71221917 . C T 12 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=199;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=1.91;MQ0=198;QD=0.06;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.24C>T;refseq.codonCoord=8;refseq.end=71221917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=24;refseq.name=NM_001002035;refseq.name2=DEFB108B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F8F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=24;refseq.start=71221917;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/1 chr11 71226113 . A G 235.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=95.87;MQ0=0;OQ=3633.03;QD=40.82;RankSumP=1.00000;SB=-1686.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.79A>G;refseq.codonCoord=27;refseq.end=71226113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_001002035;refseq.name2=DEFB108B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I27V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=21;refseq.start=71226113;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr11 71226140 . C T 320.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=94.12;MQ0=0;OQ=3096.54;QD=40.74;RankSumP=1.00000;SB=-1487.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.106C>T;refseq.codonCoord=36;refseq.end=71226140;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_001002035;refseq.name2=DEFB108B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R36W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=48;refseq.start=71226140;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr11 71226168 . A T 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=78.36;MQ0=15;OQ=1739.19;QD=29.99;RankSumP=1.00000;SB=-795.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.134A>T;refseq.codonCoord=45;refseq.end=71226168;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_001002035;refseq.name2=DEFB108B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H45L;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=76;refseq.start=71226168;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr11 71226192 . A G 195.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=63.24;MQ0=24;OQ=929.26;QD=17.87;RankSumP=1.00000;SB=-417.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.158A>G;refseq.codonCoord=53;refseq.end=71226192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=158;refseq.name=NM_001002035;refseq.name2=DEFB108B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q53R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-65;refseq.start=71226192;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr11 71390523 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=41;Dels=0.00;HRun=3;HaplotypeScore=6.26;MQ=97.78;MQ0=0;QD=0.92;RankSumP=0.500009;SB=53.19;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.codingCoordStr_1=c.553T>C;refseq.codingCoordStr_2=c.553T>C;refseq.codingCoordStr_3=c.281T>C;refseq.codingCoordStr_4=c.553T>C;refseq.codingCoordStr_5=c.553T>C;refseq.codonCoord_1=185;refseq.codonCoord_2=185;refseq.codonCoord_3=94;refseq.codonCoord_4=185;refseq.codonCoord_5=185;refseq.end_1=71390523;refseq.end_2=71390523;refseq.end_3=71390523;refseq.end_4=71390523;refseq.end_5=71390523;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=1;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=719;refseq.mrnaCoord_3=339;refseq.mrnaCoord_4=657;refseq.mrnaCoord_5=1475;refseq.name2_1=IL18BP;refseq.name2_2=IL18BP;refseq.name2_3=IL18BP;refseq.name2_4=IL18BP;refseq.name2_5=IL18BP;refseq.name_1=NM_001039659;refseq.name_2=NM_001039660;refseq.name_3=NM_001145055;refseq.name_4=NM_001145057;refseq.name_5=NM_173042;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S185P;refseq.proteinCoordStr_2=p.S185P;refseq.proteinCoordStr_3=p.L94P;refseq.proteinCoordStr_4=p.S185P;refseq.proteinCoordStr_5=p.S185P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.spliceDist_5=46;refseq.start_1=71390523;refseq.start_2=71390523;refseq.start_3=71390523;refseq.start_4=71390523;refseq.start_5=71390523;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=soap-filterIngatk GT 1/0 chr11 71403339 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2858A>G;refseq.codonCoord=953;refseq.end=71403339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3030;refseq.name=NM_006185;refseq.name2=NUMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E953G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1616;refseq.start=71403339;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr11 71417947 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.80T>G;refseq.codonCoord=27;refseq.end=71417947;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=252;refseq.name=NM_006185;refseq.name2=NUMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V27G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=71417947;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 71584104 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.310A>C;refseq.codingCoordStr_2=c.310A>C;refseq.codingCoordStr_3=c.310A>C;refseq.codingCoordStr_4=c.310A>C;refseq.codonCoord_1=104;refseq.codonCoord_2=104;refseq.codonCoord_3=104;refseq.codonCoord_4=104;refseq.end_1=71584104;refseq.end_2=71584104;refseq.end_3=71584104;refseq.end_4=71584104;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=335;refseq.mrnaCoord_2=586;refseq.mrnaCoord_3=520;refseq.mrnaCoord_4=355;refseq.name2_1=FOLR1;refseq.name2_2=FOLR1;refseq.name2_3=FOLR1;refseq.name2_4=FOLR1;refseq.name_1=NM_000802;refseq.name_2=NM_016724;refseq.name_3=NM_016725;refseq.name_4=NM_016729;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T104P;refseq.proteinCoordStr_2=p.T104P;refseq.proteinCoordStr_3=p.T104P;refseq.proteinCoordStr_4=p.T104P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.start_1=71584104;refseq.start_2=71584104;refseq.start_3=71584104;refseq.start_4=71584104;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr11 71618860 . A G 183.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.29;MQ0=0;OQ=1512.77;QD=15.44;RankSumP=0.327504;SB=-516.04;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.987A>G;refseq.codonCoord=329;refseq.end=71618860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_001567;refseq.name2=INPPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S329S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=48;refseq.start=71618860;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr11 71632514 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.183C>T;refseq.codonCoord=61;refseq.end=71632514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_005169;refseq.name2=PHOX2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A61A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-35;refseq.start=71632514;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr11 71697270 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1105T>G;refseq.codonCoord=369;refseq.end=71697270;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_030813;refseq.name2=CLPB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y369D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=27;refseq.start=71697270;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr11 71966247 . G A 356.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=9.19;MQ=95.26;MQ0=0;OQ=3944.29;QD=18.26;RankSumP=0.227591;SB=-1692.75;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.2634C>T;refseq.codingCoordStr_3=c.2628C>T;refseq.codingCoordStr_4=c.2655C>T;refseq.codonCoord_2=878;refseq.codonCoord_3=876;refseq.codonCoord_4=885;refseq.end_1=71966247;refseq.end_2=71966247;refseq.end_3=71966247;refseq.end_4=71966247;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2763;refseq.mrnaCoord_2=2718;refseq.mrnaCoord_3=2768;refseq.mrnaCoord_4=2898;refseq.name2_1=PDE2A;refseq.name2_2=PDE2A;refseq.name2_3=PDE2A;refseq.name2_4=PDE2A;refseq.name_1=NR_026572;refseq.name_2=NM_001143839;refseq.name_3=NM_001146209;refseq.name_4=NM_002599;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y878Y;refseq.proteinCoordStr_3=p.Y876Y;refseq.proteinCoordStr_4=p.Y885Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.start_1=71966247;refseq.start_2=71966247;refseq.start_3=71966247;refseq.start_4=71966247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 1/0 chr11 71968277 . G A 224.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.83;MQ0=0;OQ=2445.58;QD=17.22;RankSumP=0.0355138;SB=-1019.44;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.2184C>T;refseq.codingCoordStr_3=c.2178C>T;refseq.codingCoordStr_4=c.2205C>T;refseq.codonCoord_2=728;refseq.codonCoord_3=726;refseq.codonCoord_4=735;refseq.end_1=71968277;refseq.end_2=71968277;refseq.end_3=71968277;refseq.end_4=71968277;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2313;refseq.mrnaCoord_2=2268;refseq.mrnaCoord_3=2318;refseq.mrnaCoord_4=2448;refseq.name2_1=PDE2A;refseq.name2_2=PDE2A;refseq.name2_3=PDE2A;refseq.name2_4=PDE2A;refseq.name_1=NR_026572;refseq.name_2=NM_001143839;refseq.name_3=NM_001146209;refseq.name_4=NM_002599;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I728I;refseq.proteinCoordStr_3=p.I726I;refseq.proteinCoordStr_4=p.I735I;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=71968277;refseq.start_2=71968277;refseq.start_3=71968277;refseq.start_4=71968277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 1/0 chr11 71971250 . A G 188.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=5.85;MQ=98.67;MQ0=0;OQ=8032.72;QD=31.75;RankSumP=1.00000;SB=-2576.99;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.1716T>C;refseq.codingCoordStr_3=c.1710T>C;refseq.codingCoordStr_4=c.1737T>C;refseq.codonCoord_2=572;refseq.codonCoord_3=570;refseq.codonCoord_4=579;refseq.end_1=71971250;refseq.end_2=71971250;refseq.end_3=71971250;refseq.end_4=71971250;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1845;refseq.mrnaCoord_2=1800;refseq.mrnaCoord_3=1850;refseq.mrnaCoord_4=1980;refseq.name2_1=PDE2A;refseq.name2_2=PDE2A;refseq.name2_3=PDE2A;refseq.name2_4=PDE2A;refseq.name_1=NR_026572;refseq.name_2=NM_001143839;refseq.name_3=NM_001146209;refseq.name_4=NM_002599;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D572D;refseq.proteinCoordStr_3=p.D570D;refseq.proteinCoordStr_4=p.D579D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=71971250;refseq.start_2=71971250;refseq.start_3=71971250;refseq.start_4=71971250;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/1 chr11 72085291 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.3223C>G;refseq.codingCoordStr_2=c.2305C>G;refseq.codingCoordStr_3=c.2488C>G;refseq.codonCoord_1=1075;refseq.codonCoord_2=769;refseq.codonCoord_3=830;refseq.end_1=72085291;refseq.end_2=72085291;refseq.end_3=72085291;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3412;refseq.mrnaCoord_2=3040;refseq.mrnaCoord_3=3223;refseq.name2_1=ARAP1;refseq.name2_2=ARAP1;refseq.name2_3=ARAP1;refseq.name_1=NM_001040118;refseq.name_2=NM_001135190;refseq.name_3=NM_015242;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1075A;refseq.proteinCoordStr_2=p.P769A;refseq.proteinCoordStr_3=p.P830A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=72085291;refseq.start_2=72085291;refseq.start_3=72085291;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr11 72092977 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=97.95;MQ0=0;OQ=475.90;QD=10.58;RankSumP=0.185342;SB=-250.49;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1860C>T;refseq.codingCoordStr_3=c.1125C>T;refseq.codonCoord_2=620;refseq.codonCoord_3=375;refseq.end_1=72094487;refseq.end_2=72092977;refseq.end_3=72092977;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2049;refseq.mrnaCoord_3=1860;refseq.name2_1=ARAP1;refseq.name2_2=ARAP1;refseq.name2_3=ARAP1;refseq.name_1=NM_001135190;refseq.name_2=NM_001040118;refseq.name_3=NM_015242;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N620N;refseq.proteinCoordStr_3=p.N375N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=72091783;refseq.start_2=72092977;refseq.start_3=72092977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr11 72622989 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=681;Dels=0.00;HRun=1;HaplotypeScore=8.54;MQ=98.78;MQ0=0;OQ=28492.70;QD=41.84;RankSumP=1.00000;SB=-12454.14;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.137C>T;refseq.codingCoordStr_2=c.137C>T;refseq.codingCoordStr_3=c.137C>T;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=72622989;refseq.end_2=72622989;refseq.end_3=72622989;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=470;refseq.mrnaCoord_2=536;refseq.mrnaCoord_3=604;refseq.name2_1=P2RY2;refseq.name2_2=P2RY2;refseq.name2_3=P2RY2;refseq.name_1=NM_002564;refseq.name_2=NM_176071;refseq.name_3=NM_176072;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P46L;refseq.proteinCoordStr_2=p.P46L;refseq.proteinCoordStr_3=p.P46L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.spliceDist_3=275;refseq.start_1=72622989;refseq.start_2=72622989;refseq.start_3=72622989;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/1 chr11 72623956 . T A 164.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=98.13;MQ0=0;OQ=4280.05;QD=33.18;RankSumP=1.00000;SB=-1329.23;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1104T>A;refseq.codingCoordStr_2=c.1104T>A;refseq.codingCoordStr_3=c.1104T>A;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.codonCoord_3=368;refseq.end_1=72623956;refseq.end_2=72623956;refseq.end_3=72623956;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1437;refseq.mrnaCoord_2=1503;refseq.mrnaCoord_3=1571;refseq.name2_1=P2RY2;refseq.name2_2=P2RY2;refseq.name2_3=P2RY2;refseq.name_1=NM_002564;refseq.name_2=NM_176071;refseq.name_3=NM_176072;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G368G;refseq.proteinCoordStr_2=p.G368G;refseq.proteinCoordStr_3=p.G368G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-1088;refseq.spliceDist_2=-1088;refseq.spliceDist_3=-1088;refseq.start_1=72623956;refseq.start_2=72623956;refseq.start_3=72623956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/1 chr11 72700013 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2682T>C;refseq.codonCoord=894;refseq.end=72700013;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2703;refseq.name=NM_014786;refseq.name2=ARHGEF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P894P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-511;refseq.start=72700013;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 72744902 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3698A>C;refseq.codonCoord=1233;refseq.end=72744902;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3719;refseq.name=NM_014786;refseq.name2=ARHGEF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1233A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=35;refseq.start=72744902;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 72745423 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3862T>G;refseq.codonCoord=1288;refseq.end=72745423;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3883;refseq.name=NM_014786;refseq.name2=ARHGEF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1288V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=22;refseq.start=72745423;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr11 73262051 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.452863;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.21A>G;refseq.codonCoord=7;refseq.end=73262051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_016565;refseq.name2=CHCHD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q7Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=37;refseq.start=73262051;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr11 73305310 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.892A>G;refseq.codonCoord=298;refseq.end=73305310;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_025155;refseq.name2=PAAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T298A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-44;refseq.start=73305310;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr11 73348293 . T C 268.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=98.83;MQ0=0;OQ=2070.54;QD=15.45;RankSumP=0.400791;SB=-964.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.279T>C;refseq.codonCoord=93;refseq.end=73348293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_153614;refseq.name2=DNAJB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.H93H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-56;refseq.start=73348293;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 73358738 . C T 101.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=216;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=98.01;MQ0=0;OQ=3211.76;QD=14.87;RankSumP=0.452491;SB=-1290.13;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.882C>T;refseq.codonCoord=294;refseq.end=73358738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1633;refseq.name=NM_153614;refseq.name2=DNAJB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.F294F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=85;refseq.start=73358738;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr11 73358783 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=172;Dels=0.00;HRun=0;HaplotypeScore=7.02;MQ=97.17;MQ0=0;OQ=2017.97;QD=11.73;RankSumP=0.318856;SB=-732.04;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.927G>A;refseq.codonCoord=309;refseq.end=73358783;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_153614;refseq.name2=DNAJB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.M309I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=130;refseq.start=73358783;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr11 73365650 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398T>G;refseq.codonCoord=133;refseq.end=73365650;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=778;refseq.name=NM_003355;refseq.name2=UCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=61;refseq.start=73365650;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 73366752 . G A 268.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.99;MQ0=0;OQ=1578.70;QD=16.44;RankSumP=0.0588666;SB=-772.65;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.164C>T;refseq.codonCoord=55;refseq.end=73366752;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_003355;refseq.name2=UCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A55V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=38;refseq.start=73366752;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr11 73393190 . G A 284.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=13.28;MQ=98.92;MQ0=0;OQ=8888.74;QD=21.32;RankSumP=0.443287;SB=-1844.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.630C>T;refseq.codingCoordStr_2=c.630C>T;refseq.codonCoord_1=210;refseq.codonCoord_2=210;refseq.end_1=73393190;refseq.end_2=73393190;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=985;refseq.mrnaCoord_2=985;refseq.name2_1=UCP3;refseq.name2_2=UCP3;refseq.name_1=NM_003356;refseq.name_2=NM_022803;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y210Y;refseq.proteinCoordStr_2=p.Y210Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=73393190;refseq.start_2=73393190;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr11 73437006 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5387T>C;refseq.codonCoord=1796;refseq.end=73437006;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5614;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1796S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=26;refseq.start=73437006;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr11 73446181 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5008A>C;refseq.codonCoord=1670;refseq.end=73446181;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5235;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1670P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=57;refseq.start=73446181;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr11 73462974 . T C 199.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.84;MQ0=0;OQ=5447.57;QD=20.10;RankSumP=0.494579;SB=-1534.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4923A>G;refseq.codonCoord=1641;refseq.end=73462974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5150;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1641V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-29;refseq.start=73462974;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 73474565 . C T 304.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.94;MQ0=0;OQ=3082.76;QD=19.15;RankSumP=0.0551977;SB=-1036.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3656G>A;refseq.codonCoord=1219;refseq.end=73474565;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3883;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1219Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=15;refseq.start=73474565;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 73527650 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.60;MQ0=0;OQ=2220.30;QD=22.20;RankSumP=0.272871;SB=-890.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.718C>G;refseq.codonCoord=240;refseq.end=73527650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=945;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H240D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=11;refseq.start=73527650;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr11 73550240 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.335T>G;refseq.codonCoord=112;refseq.end=73550240;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_015531;refseq.name2=C2CD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V112G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=73550240;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 73727217 . A G 303.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=98.88;MQ0=0;OQ=5697.04;QD=16.23;RankSumP=0.0540273;SB=-2102.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1710T>C;refseq.codonCoord=570;refseq.end=73727217;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2006;refseq.name=NM_173582;refseq.name2=PGM2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S570S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-57;refseq.start=73727217;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr11 73731195 . C T 213.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.43;MQ0=0;OQ=2716.79;QD=13.93;RankSumP=0.00228159;SB=-1230.16;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1591G>A;refseq.codonCoord=531;refseq.end=73731195;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1887;refseq.name=NM_173582;refseq.name2=PGM2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V531I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-42;refseq.start=73731195;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=filterInsoap-gatk GT 0/1 chr11 73846059 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=15.86;MQ=98.49;MQ0=0;OQ=4128.43;QD=18.85;RankSumP=0.207095;SB=-993.13;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.198T>C;refseq.codonCoord=66;refseq.end=73846059;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_005472;refseq.name2=KCNE3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F66F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=238;refseq.start=73846059;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr11 74007263 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=624;Dels=0.00;HRun=3;HaplotypeScore=15.01;MQ=98.72;MQ0=0;OQ=13066.87;QD=20.94;RankSumP=0.397091;SB=-5311.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=74007263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_006591;refseq.name2=POLD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=34;refseq.start=74007263;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr11 74097005 . C T 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=99.00;MQ0=0;OQ=482.60;QD=24.13;RankSumP=1.00000;SB=-228.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=74097005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_015424;refseq.name2=CHRDL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q172Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-11;refseq.start=74097005;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr11 74576885 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00205915;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.963C>A;refseq.codingCoordStr_2=c.597C>A;refseq.codingCoordStr_3=c.1029C>A;refseq.codonCoord_1=321;refseq.codonCoord_2=199;refseq.codonCoord_3=343;refseq.end_1=74576885;refseq.end_2=74576885;refseq.end_3=74576885;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1118;refseq.mrnaCoord_2=984;refseq.mrnaCoord_3=1416;refseq.name2_1=SLCO2B1;refseq.name2_2=SLCO2B1;refseq.name2_3=SLCO2B1;refseq.name_1=NM_001145211;refseq.name_2=NM_001145212;refseq.name_3=NM_007256;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G321G;refseq.proteinCoordStr_2=p.G199G;refseq.proteinCoordStr_3=p.G343G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=74576885;refseq.start_2=74576885;refseq.start_3=74576885;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 1/0 chr11 74582010 . T C 130.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=6.79;MQ=98.73;MQ0=0;OQ=10746.88;QD=34.45;RankSumP=1.00000;SB=-4973.52;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1109T>C;refseq.codingCoordStr_2=c.743T>C;refseq.codingCoordStr_3=c.1175T>C;refseq.codonCoord_1=370;refseq.codonCoord_2=248;refseq.codonCoord_3=392;refseq.end_1=74582010;refseq.end_2=74582010;refseq.end_3=74582010;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1264;refseq.mrnaCoord_2=1130;refseq.mrnaCoord_3=1562;refseq.name2_1=SLCO2B1;refseq.name2_2=SLCO2B1;refseq.name2_3=SLCO2B1;refseq.name_1=NM_001145211;refseq.name_2=NM_001145212;refseq.name_3=NM_007256;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I370T;refseq.proteinCoordStr_2=p.I248T;refseq.proteinCoordStr_3=p.I392T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.spliceDist_3=100;refseq.start_1=74582010;refseq.start_2=74582010;refseq.start_3=74582010;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr11 74582230 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=1.84141e-08;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1329C>G;refseq.codingCoordStr_2=c.963C>G;refseq.codingCoordStr_3=c.1395C>G;refseq.codonCoord_1=443;refseq.codonCoord_2=321;refseq.codonCoord_3=465;refseq.end_1=74582230;refseq.end_2=74582230;refseq.end_3=74582230;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1350;refseq.mrnaCoord_3=1782;refseq.name2_1=SLCO2B1;refseq.name2_2=SLCO2B1;refseq.name2_3=SLCO2B1;refseq.name_1=NM_001145211;refseq.name_2=NM_001145212;refseq.name_3=NM_007256;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C443W;refseq.proteinCoordStr_2=p.C321W;refseq.proteinCoordStr_3=p.C465W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=74582230;refseq.start_2=74582230;refseq.start_3=74582230;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 1/0 chr11 74955276 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=3;HaplotypeScore=1.59;MQ=82.28;MQ0=0;OQ=2682.63;QD=36.25;RankSumP=1.00000;SB=-999.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=74955276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_001235;refseq.name2=SERPINH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L78L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=268;refseq.start=74955276;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 74955405 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=94.90;MQ0=0;OQ=239.93;QD=9.60;RankSumP=0.705939;SB=-122.35;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.363C>G;refseq.codonCoord=121;refseq.end=74955405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_001235;refseq.name2=SERPINH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S121S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-260;refseq.start=74955405;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr11 74955640 . C T 115.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.28;MQ0=0;OQ=1986.11;QD=14.82;RankSumP=0.133033;SB=-462.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.598C>T;refseq.codonCoord=200;refseq.end=74955640;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_001235;refseq.name2=SERPINH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L200L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-25;refseq.start=74955640;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr11 74957494 . C T 339.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.27;MQ0=0;OQ=7754.68;QD=20.14;RankSumP=0.397875;SB=-2874.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.693C>T;refseq.codonCoord=231;refseq.end=74957494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_001235;refseq.name2=SERPINH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T231T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-29;refseq.start=74957494;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr11 74960530 . G A 283.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.10;MQ0=0;OQ=3830.02;QD=21.64;RankSumP=0.321716;SB=-1307.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1011G>A;refseq.codonCoord=337;refseq.end=74960530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_001235;refseq.name2=SERPINH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L337L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=57;refseq.start=74960530;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr11 74976445 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=522;Dels=0.00;HRun=0;HaplotypeScore=27.21;MQ=98.62;MQ0=0;OQ=9081.12;QD=17.40;RankSumP=0.457329;SB=-2785.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1749T>C;refseq.codonCoord=583;refseq.end=74976445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1814;refseq.name=NM_033063;refseq.name2=MAP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D583D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=433;refseq.start=74976445;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr11 74994651 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1166C>G;refseq.codingCoordStr_2=c.1166C>G;refseq.codonCoord_1=389;refseq.codonCoord_2=389;refseq.end_1=74994651;refseq.end_2=74994651;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1231;refseq.mrnaCoord_2=1231;refseq.name2_1=MAP6;refseq.name2_2=MAP6;refseq.name_1=NM_033063;refseq.name_2=NM_207577;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A389G;refseq.proteinCoordStr_2=p.A389G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=74994651;refseq.start_2=74994651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr11 75848716 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.510A>C;refseq.codonCoord=170;refseq.end=75848716;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_020193;refseq.name2=C11orf30;refseq.positionType=CDS;refseq.proteinCoordStr=p.R170S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-62;refseq.start=75848716;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr11 76048440 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=2;HaplotypeScore=7.13;MQ=98.24;MQ0=0;OQ=16277.37;QD=37.08;RankSumP=1.00000;SB=-7154.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1845T>C;refseq.codingCoordStr_2=c.1845T>C;refseq.codonCoord_1=615;refseq.codonCoord_2=615;refseq.end_1=76048440;refseq.end_2=76048440;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=2088;refseq.name2_1=LRRC32;refseq.name2_2=LRRC32;refseq.name_1=NM_001128922;refseq.name_2=NM_005512;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P615P;refseq.proteinCoordStr_2=p.P615P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=1761;refseq.spliceDist_2=1761;refseq.start_1=76048440;refseq.start_2=76048440;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr11 76049700 . A G 255.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.01;MQ0=0;OQ=2524.18;QD=35.55;RankSumP=1.00000;SB=-1271.19;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.585T>C;refseq.codingCoordStr_2=c.585T>C;refseq.codonCoord_1=195;refseq.codonCoord_2=195;refseq.end_1=76049700;refseq.end_2=76049700;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=828;refseq.name2_1=LRRC32;refseq.name2_2=LRRC32;refseq.name_1=NM_001128922;refseq.name_2=NM_005512;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G195G;refseq.proteinCoordStr_2=p.G195G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=501;refseq.spliceDist_2=501;refseq.start_1=76049700;refseq.start_2=76049700;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr11 76050066 . T C 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=99.00;MQ0=0;OQ=1412.42;QD=29.43;RankSumP=1.00000;SB=-621.25;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.219A>G;refseq.codingCoordStr_2=c.219A>G;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=76050066;refseq.end_2=76050066;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=357;refseq.mrnaCoord_2=462;refseq.name2_1=LRRC32;refseq.name2_2=LRRC32;refseq.name_1=NM_001128922;refseq.name_2=NM_005512;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T73T;refseq.proteinCoordStr_2=p.T73T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=76050066;refseq.start_2=76050066;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr11 76315299 . G A 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=501;Dels=0.00;HRun=1;HaplotypeScore=12.52;MQ=98.78;MQ0=0;OQ=21940.94;QD=43.79;RankSumP=1.00000;SB=-9506.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.154G>A;refseq.codonCoord=52;refseq.end=76315299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_018367;refseq.name2=ACER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V52I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=51;refseq.start=76315299;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr11 76315328 . G A 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=4;HaplotypeScore=14.31;MQ=98.63;MQ0=0;OQ=18453.70;QD=42.13;RankSumP=1.00000;SB=-7502.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=76315328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_018367;refseq.name2=ACER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K61K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-32;refseq.start=76315328;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/1 chr11 76379254 . G A 256.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1348.28;QD=40.86;RankSumP=1.00000;SB=-543.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.426G>A;refseq.codonCoord=142;refseq.end=76379254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_018367;refseq.name2=ACER3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-13;refseq.start=76379254;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr11 76632460 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=96.35;MQ0=0;OQ=1950.89;QD=10.78;RankSumP=0.338083;SB=-785.40;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1168A>G;refseq.codonCoord=390;refseq.end=76632460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1419;refseq.name=NM_182833;refseq.name2=GDPD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I390V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-74;refseq.start=76632460;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 76632481 . G A 117.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.03;MQ0=0;OQ=2113.22;QD=12.01;RankSumP=0.246468;SB=-1052.93;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1147C>T;refseq.codonCoord=383;refseq.end=76632481;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1398;refseq.name=NM_182833;refseq.name2=GDPD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H383Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=61;refseq.start=76632481;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr11 77011225 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.614T>G;refseq.codonCoord=205;refseq.end=77011225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_001293;refseq.name2=CLNS1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V205G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-33;refseq.start=77011225;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 77082272 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=1.86997e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2748C>A;refseq.codonCoord=916;refseq.end=77082272;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2868;refseq.name=NM_016578;refseq.name2=RSF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y916*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=33;refseq.start=77082272;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr11 77090294 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=510;Dels=0.00;HRun=2;HaplotypeScore=6.15;MQ=98.76;MQ0=0;OQ=10336.26;QD=20.27;RankSumP=0.462712;SB=-4339.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1628C>T;refseq.codonCoord=543;refseq.end=77090294;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1748;refseq.name=NM_016578;refseq.name2=RSF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S543F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-881;refseq.start=77090294;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 77090499 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=4;HaplotypeScore=9.42;MQ=98.77;MQ0=0;OQ=4930.84;QD=18.26;RankSumP=0.296908;SB=-1584.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1423T>C;refseq.codonCoord=475;refseq.end=77090499;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_016578;refseq.name2=RSF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S475P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=690;refseq.start=77090499;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr11 77231286 . T C 408.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.18;MQ=98.91;MQ0=0;OQ=6925.52;QD=41.22;RankSumP=1.00000;SB=-3208.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=77231286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_024684;refseq.name2=C11orf67;refseq.positionType=CDS;refseq.proteinCoordStr=p.G32G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-37;refseq.start=77231286;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr11 77290119 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.491611;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2224C>T;refseq.codonCoord=742;refseq.end=77290119;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2252;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R742*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=77290119;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr11 77290137 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.397996;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2206G>A;refseq.codonCoord=736;refseq.end=77290137;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2234;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V736I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-23;refseq.start=77290137;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr11 77290210 . G C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.244883;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2133C>G;refseq.codonCoord=711;refseq.end=77290210;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y711*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=36;refseq.start=77290210;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 0/1 chr11 77292240 . C T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.431309;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2091G>A;refseq.codonCoord=697;refseq.end=77292240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2119;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A697A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=77292240;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 0/1 chr11 77296462 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1965A>G;refseq.codonCoord=655;refseq.end=77296462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1993;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G655G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=43;refseq.start=77296462;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 77307607 . G C 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.362372;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1830C>G;refseq.codonCoord=610;refseq.end=77307607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1858;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S610S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=66;refseq.start=77307607;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 0/1 chr11 77310090 . A C 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.402374;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1708T>G;refseq.codonCoord=570;refseq.end=77310090;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F570V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-57;refseq.start=77310090;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 0/1 chr11 77313530 . A C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=5.88;MQ=43.43;MQ0=165;OQ=1925.12;QD=9.00;RankSumP=0.649081;SB=-877.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1428T>G;refseq.codonCoord=476;refseq.end=77313530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1456;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V476V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=57;refseq.start=77313530;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr11 77317114 . A G 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=65.93;MQ0=30;OQ=1323.37;QD=20.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1293T>C;refseq.codonCoord=431;refseq.end=77317114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S431S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-79;refseq.start=77317114;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 77317159 . T A 29.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=57.77;MQ0=18;OQ=469.22;QD=15.14;RankSumP=0.500000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1248A>T;refseq.codonCoord=416;refseq.end=77317159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1276;refseq.name=NM_033547;refseq.name2=INTS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L416L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=83;refseq.start=77317159;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/0 chr11 77405580 . C T 36.14 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=2.38;MQ=98.69;MQ0=0;QD=1.17;SB=35.14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.475G>A;refseq.codonCoord=159;refseq.end=77405580;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_023930;refseq.name2=KCTD14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E159K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=385;refseq.start=77405580;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:19,12:20:-12.92,-6.03,-67.62:68.97 chr11 77411857 . T C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=97.88;MQ0=0;OQ=1823.43;QD=27.22;RankSumP=1.00000;SB=-664.13;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.87A>G;refseq.codonCoord=29;refseq.end=77411857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=112;refseq.name=NM_023930;refseq.name2=KCTD14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P29P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=77411857;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 77468301 . T C 255.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=317.59;QD=35.29;RankSumP=1.00000;SB=-54.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.138A>G;refseq.codonCoord=46;refseq.end=77468301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_004549;refseq.name2=NDUFC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L46L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-29;refseq.start=77468301;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 77468303 . G C 80.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=168.87;QD=18.76;RankSumP=0.342857;SB=-52.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.136C>G;refseq.codonCoord=46;refseq.end=77468303;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_004549;refseq.name2=NDUFC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L46V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-31;refseq.start=77468303;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr11 77502968 . T C 280.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.44;MQ0=0;OQ=4637.74;QD=22.96;RankSumP=0.481861;SB=-1845.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.665A>G;refseq.codingCoordStr_2=c.665A>G;refseq.codonCoord_1=222;refseq.codonCoord_2=222;refseq.end_1=77502968;refseq.end_2=77502968;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=730;refseq.mrnaCoord_2=730;refseq.name2_1=ALG8;refseq.name2_2=ALG8;refseq.name_1=NM_001007027;refseq.name_2=NM_024079;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N222S;refseq.proteinCoordStr_2=p.N222S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=77502968;refseq.start_2=77502968;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr11 77585029 . G C 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=0.00961095;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.90G>C;refseq.codonCoord=30;refseq.end=77585029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.R30R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=100;refseq.start=77585029;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr11 77598512 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=8;RankSumP=0.000331865;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1963A>C;refseq.codonCoord=655;refseq.end=77598512;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2319;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.T655P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=371;refseq.start=77598512;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 77599047 . T C 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.181313;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2498T>C;refseq.codonCoord=833;refseq.end=77599047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2854;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.L833P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-392;refseq.start=77599047;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr11 77599050 . G C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2501G>C;refseq.codonCoord=834;refseq.end=77599050;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2857;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.R834P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-389;refseq.start=77599050;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr11 77599066 . T G 11.38 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=38;Dels=0.00;HRun=2;HaplotypeScore=14.78;MQ=96.05;MQ0=0;QD=0.30;RankSumP=1.26029e-05;SB=17.08;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2517T>G;refseq.codonCoord=839;refseq.end=77599066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2873;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.G839G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-373;refseq.start=77599066;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 77599175 . G C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=170;Dels=0.00;HRun=2;HaplotypeScore=11.11;MQ=97.84;MQ0=0;OQ=5781.99;QD=34.01;RankSumP=1.00000;SB=-796.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2626G>C;refseq.codonCoord=876;refseq.end=77599175;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2982;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.A876P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-264;refseq.start=77599175;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr11 77599187 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2638A>C;refseq.codonCoord=880;refseq.end=77599187;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2994;refseq.name=NM_020798;refseq.name2=USP35;refseq.positionType=CDS;refseq.proteinCoordStr=p.T880P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-252;refseq.start=77599187;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr11 77954925 . A G 279.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=98.86;MQ0=0;OQ=6447.47;QD=36.43;RankSumP=1.00000;SB=-2381.91;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.414T>C;refseq.codonCoord_2=138;refseq.end_1=77954925;refseq.end_2=77954925;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=309;refseq.mrnaCoord_2=790;refseq.name2_1=NARS2;refseq.name2_2=NARS2;refseq.name_1=NR_027479;refseq.name_2=NM_024678;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y138Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=77954925;refseq.start_2=77954925;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr11 77957438 . T G 387.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2528.23;QD=40.13;RankSumP=1.00000;SB=-817.12;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.260A>C;refseq.codonCoord_2=87;refseq.end_1=77957438;refseq.end_2=77957438;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=636;refseq.name2_1=NARS2;refseq.name2_2=NARS2;refseq.name_1=NR_027479;refseq.name_2=NM_024678;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N87T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=77957438;refseq.start_2=77957438;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr11 82213611 . C T 109.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.90;MQ0=0;OQ=1214.93;QD=13.96;RankSumP=0.317100;SB=-102.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1476G>A;refseq.codingCoordStr_2=c.1539G>A;refseq.codonCoord_1=492;refseq.codonCoord_2=513;refseq.end_1=82213611;refseq.end_2=82213611;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1589;refseq.mrnaCoord_2=1652;refseq.name2_1=PRCP;refseq.name2_2=PRCP;refseq.name_1=NM_005040;refseq.name_2=NM_199418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A492A;refseq.proteinCoordStr_2=p.A513A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=202;refseq.spliceDist_2=202;refseq.start_1=82213611;refseq.start_2=82213611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr11 82241942 . T G 245.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.42;MQ0=0;OQ=5576.02;QD=21.36;RankSumP=0.381334;SB=-2074.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.336A>C;refseq.codingCoordStr_2=c.399A>C;refseq.codonCoord_1=112;refseq.codonCoord_2=133;refseq.end_1=82241942;refseq.end_2=82241942;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=512;refseq.name2_1=PRCP;refseq.name2_2=PRCP;refseq.name_1=NM_005040;refseq.name_2=NM_199418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E112D;refseq.proteinCoordStr_2=p.E133D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=82241942;refseq.start_2=82241942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr11 82303462 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=98.76;MQ0=0;OQ=3119.57;QD=14.24;RankSumP=0.459665;SB=-751.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.34G>A;refseq.codonCoord=12;refseq.end=82303462;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_145018;refseq.name2=C11orf82;refseq.positionType=CDS;refseq.proteinCoordStr=p.V12I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=50;refseq.start=82303462;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr11 82650652 . C T 210.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.91;MQ0=0;OQ=2922.60;QD=18.38;RankSumP=0.343203;SB=-1095.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.714G>A;refseq.codonCoord=238;refseq.end=82650652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1076;refseq.name=NM_021825;refseq.name2=CCDC90B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S238S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=82650652;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr11 82674634 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=97.76;MQ0=0;OQ=729.04;QD=11.05;RankSumP=0.704378;SB=-358.80;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.30T>G;refseq.codonCoord=10;refseq.end=82674634;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_021825;refseq.name2=CCDC90B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F10L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-71;refseq.start=82674634;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr11 85283983 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=3.28011e-08;SecondBestBaseQ=14;refseq.chr=chr11;refseq.codingCoordStr=c.512-1;refseq.end=85283983;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_173556;refseq.name2=CCDC83;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=85283983;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr11 85304756 . T C 168.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.79;MQ0=0;OQ=9661.13;QD=23.85;RankSumP=2.86902e-05;SB=-3394.01;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1005T>C;refseq.codonCoord=335;refseq.end=85304756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1517;refseq.name=NM_173556;refseq.name2=CCDC83;refseq.positionType=CDS;refseq.proteinCoordStr=p.S335S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=38;refseq.start=85304756;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr11 85308059 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=458;Dels=0.00;HRun=0;HaplotypeScore=26.90;MQ=98.79;MQ0=0;OQ=9173.47;QD=20.03;RankSumP=0.273754;SB=-3871.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1193C>T;refseq.codonCoord=398;refseq.end=85308059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1705;refseq.name=NM_173556;refseq.name2=CCDC83;refseq.positionType=CDS;refseq.proteinCoordStr=p.P398L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=20;refseq.start=85308059;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr11 85369829 . A C 154.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=1;HaplotypeScore=7.15;MQ=98.73;MQ0=0;OQ=5146.38;QD=16.93;RankSumP=0.261948;SB=-711.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1620T>G;refseq.codingCoordStr_2=c.1770T>G;refseq.codonCoord_1=540;refseq.codonCoord_2=590;refseq.end_1=85369829;refseq.end_2=85369829;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1906;refseq.mrnaCoord_2=2056;refseq.name2_1=PICALM;refseq.name2_2=PICALM;refseq.name_1=NM_001008660;refseq.name_2=NM_007166;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A540A;refseq.proteinCoordStr_2=p.A590A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=85369829;refseq.start_2=85369829;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr11 85389375 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1113A>C;refseq.codingCoordStr_2=c.1113A>C;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.end_1=85389375;refseq.end_2=85389375;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1399;refseq.mrnaCoord_2=1399;refseq.name2_1=PICALM;refseq.name2_2=PICALM;refseq.name_1=NM_001008660;refseq.name_2=NM_007166;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A371A;refseq.proteinCoordStr_2=p.A371A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=85389375;refseq.start_2=85389375;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 85403585 . C T 276.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=98.70;MQ0=0;OQ=4017.79;QD=42.74;RankSumP=1.00000;SB=-1279.72;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.522G>A;refseq.codingCoordStr_2=c.522G>A;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.end_1=85403585;refseq.end_2=85403585;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=808;refseq.name2_1=PICALM;refseq.name2_2=PICALM;refseq.name_1=NM_001008660;refseq.name_2=NM_007166;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q174Q;refseq.proteinCoordStr_2=p.Q174Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=85403585;refseq.start_2=85403585;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr11 85646271 . C T 181.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=7.89;MQ=99.00;MQ0=0;OQ=4031.60;QD=21.11;RankSumP=0.221148;SB=-1389.18;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.619C>T;refseq.codingCoordStr_2=c.619C>T;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=85646271;refseq.end_2=85646271;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=1076;refseq.name2_1=EED;refseq.name2_2=EED;refseq.name_1=NM_003797;refseq.name_2=NM_152991;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L207L;refseq.proteinCoordStr_2=p.L207L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=85646271;refseq.start_2=85646271;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr11 85776328 . T C 107.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=12.97;MQ=98.68;MQ0=0;OQ=4391.46;QD=20.33;RankSumP=0.477533;SB=-1636.50;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.264T>C;refseq.codingCoordStr_2=c.264T>C;refseq.codonCoord_1=88;refseq.codonCoord_2=88;refseq.end_1=85776328;refseq.end_2=85776328;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=692;refseq.name2_1=CCDC81;refseq.name2_2=CCDC81;refseq.name_1=NM_001156474;refseq.name_2=NM_021827;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I88I;refseq.proteinCoordStr_2=p.I88I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-22;refseq.start_1=85776328;refseq.start_2=85776328;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr11 85801115 . G A 164.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=5.64;MQ=98.70;MQ0=0;OQ=9865.96;QD=21.88;RankSumP=0.294273;SB=-4222.75;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1257G>A;refseq.codingCoordStr_2=c.987G>A;refseq.codonCoord_1=419;refseq.codonCoord_2=329;refseq.end_1=85801115;refseq.end_2=85801115;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1685;refseq.mrnaCoord_2=1415;refseq.name2_1=CCDC81;refseq.name2_2=CCDC81;refseq.name_1=NM_001156474;refseq.name_2=NM_021827;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A419A;refseq.proteinCoordStr_2=p.A329A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=85801115;refseq.start_2=85801115;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr11 85801204 . A G 245.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2176.01;QD=16.12;RankSumP=0.360827;SB=-852.72;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1346A>G;refseq.codingCoordStr_2=c.1076A>G;refseq.codonCoord_1=449;refseq.codonCoord_2=359;refseq.end_1=85801204;refseq.end_2=85801204;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1774;refseq.mrnaCoord_2=1504;refseq.name2_1=CCDC81;refseq.name2_2=CCDC81;refseq.name_1=NM_001156474;refseq.name_2=NM_021827;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y449C;refseq.proteinCoordStr_2=p.Y359C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=85801204;refseq.start_2=85801204;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr11 85831559 . G A 234.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=453;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.63;MQ0=0;OQ=8138.97;QD=17.97;RankSumP=0.000492296;SB=-2739.59;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1605C>T;refseq.codingCoordStr_2=c.1605C>T;refseq.codingCoordStr_3=c.1605C>T;refseq.codonCoord_1=535;refseq.codonCoord_2=535;refseq.codonCoord_3=535;refseq.end_1=85831559;refseq.end_2=85831559;refseq.end_3=85831559;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1859;refseq.mrnaCoord_2=1932;refseq.mrnaCoord_3=1707;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y535Y;refseq.proteinCoordStr_2=p.Y535Y;refseq.proteinCoordStr_3=p.Y535Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=85831559;refseq.start_2=85831559;refseq.start_3=85831559;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=filterInsoap-gatk GT 1/0 chr11 85839036 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=49.87;MQ=97.91;MQ0=0;OQ=4585.97;QD=16.92;RankSumP=0.139637;SB=-532.18;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.972G>C;refseq.codingCoordStr_2=c.972G>C;refseq.codingCoordStr_3=c.972G>C;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.codonCoord_3=324;refseq.end_1=85839036;refseq.end_2=85839036;refseq.end_3=85839036;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1226;refseq.mrnaCoord_2=1299;refseq.mrnaCoord_3=1074;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K324N;refseq.proteinCoordStr_2=p.K324N;refseq.proteinCoordStr_3=p.K324N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.start_1=85839036;refseq.start_2=85839036;refseq.start_3=85839036;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr11 85839062 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.946A>G;refseq.codingCoordStr_2=c.946A>G;refseq.codingCoordStr_3=c.946A>G;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.codonCoord_3=316;refseq.end_1=85839062;refseq.end_2=85839062;refseq.end_3=85839062;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1273;refseq.mrnaCoord_3=1048;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I316V;refseq.proteinCoordStr_2=p.I316V;refseq.proteinCoordStr_3=p.I316V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=85839062;refseq.start_2=85839062;refseq.start_3=85839062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=FilteredInAll GT 1/0 chr11 85945281 . C T 173.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.94;MQ0=0;OQ=1633.92;QD=16.18;RankSumP=0.373098;SB=-202.83;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.429G>A;refseq.codingCoordStr_2=c.429G>A;refseq.codingCoordStr_3=c.429G>A;refseq.codonCoord_1=143;refseq.codonCoord_2=143;refseq.codonCoord_3=143;refseq.end_1=85945281;refseq.end_2=85945281;refseq.end_3=85945281;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=756;refseq.mrnaCoord_3=531;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L143L;refseq.proteinCoordStr_2=p.L143L;refseq.proteinCoordStr_3=p.L143L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=85945281;refseq.start_2=85945281;refseq.start_3=85945281;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 0/1 chr11 85945326 . G A 338.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=98.95;MQ0=0;OQ=4770.74;QD=20.83;RankSumP=0.0510790;SB=-1549.57;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.384C>T;refseq.codingCoordStr_2=c.384C>T;refseq.codingCoordStr_3=c.384C>T;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.codonCoord_3=128;refseq.end_1=85945326;refseq.end_2=85945326;refseq.end_3=85945326;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=711;refseq.mrnaCoord_3=486;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D128D;refseq.proteinCoordStr_2=p.D128D;refseq.proteinCoordStr_3=p.D128D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=85945326;refseq.start_2=85945326;refseq.start_3=85945326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr11 85945362 . C A 340.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=12.63;MQ=98.71;MQ0=0;OQ=6013.08;QD=18.67;RankSumP=0.190414;SB=-2273.52;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.348G>T;refseq.codingCoordStr_2=c.348G>T;refseq.codingCoordStr_3=c.348G>T;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.codonCoord_3=116;refseq.end_1=85945362;refseq.end_2=85945362;refseq.end_3=85945362;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=602;refseq.mrnaCoord_2=675;refseq.mrnaCoord_3=450;refseq.name2_1=ME3;refseq.name2_2=ME3;refseq.name2_3=ME3;refseq.name_1=NM_001014811;refseq.name_2=NM_001161586;refseq.name_3=NM_006680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R116R;refseq.proteinCoordStr_2=p.R116R;refseq.proteinCoordStr_3=p.R116R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=85945362;refseq.start_2=85945362;refseq.start_3=85945362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr11 86196635 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.302T>G;refseq.codonCoord=101;refseq.end=86196635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_007173;refseq.name2=PRSS23;refseq.positionType=CDS;refseq.proteinCoordStr=p.V101G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=315;refseq.start=86196635;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 86691086 . G A 333.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=11.83;MQ=98.86;MQ0=0;OQ=6692.96;QD=20.92;RankSumP=0.174414;SB=-2449.72;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.586G>A;refseq.codingCoordStr_3=c.652G>A;refseq.codonCoord_2=196;refseq.codonCoord_3=218;refseq.end_1=86691086;refseq.end_2=86691086;refseq.end_3=86691086;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=788;refseq.mrnaCoord_3=854;refseq.name2_1=TMEM135;refseq.name2_2=TMEM135;refseq.name2_3=TMEM135;refseq.name_1=NR_033149;refseq.name_2=NM_001168724;refseq.name_3=NM_022918;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G196R;refseq.proteinCoordStr_3=p.G218R;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=86691086;refseq.start_2=86691086;refseq.start_3=86691086;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr11 87548096 . A G 277.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=6.87;MQ=98.48;MQ0=0;OQ=6969.38;QD=39.15;RankSumP=1.00000;SB=-2213.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.105T>C;refseq.codonCoord=35;refseq.end=87548096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_022337;refseq.name2=RAB38;refseq.positionType=CDS;refseq.proteinCoordStr=p.S35S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-98;refseq.start=87548096;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 87666912 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1302T>G;refseq.codonCoord=434;refseq.end=87666912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1403;refseq.name=NM_001814;refseq.name2=CTSC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G434G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=413;refseq.start=87666912;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 87685231 . A G 287.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=13483.52;QD=42.80;RankSumP=1.00000;SB=-4458.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.458T>C;refseq.codonCoord=153;refseq.end=87685231;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_001814;refseq.name2=CTSC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I153T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-28;refseq.start=87685231;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr11 87881647 . G C 25.46 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.81;MQ0=0;QD=2.55;SB=-30.38;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.3304C>G;refseq.codingCoordStr_2=c.3400C>G;refseq.codonCoord_1=1102;refseq.codonCoord_2=1134;refseq.end_1=87881647;refseq.end_2=87881647;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3672;refseq.mrnaCoord_2=3600;refseq.name2_1=GRM5;refseq.name2_2=GRM5;refseq.name_1=NM_000842;refseq.name_2=NM_001143831;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1102E;refseq.proteinCoordStr_2=p.Q1134E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=674;refseq.spliceDist_2=674;refseq.start_1=87881647;refseq.start_2=87881647;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:8,2:10:-8.84,-3.01,-39.84:58.28 chr11 87881672 . T G 4 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=96.93;MQ0=0;OQ=66.60;QD=3.33;RankSumP=0.550858;SB=-45.55;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.3279A>C;refseq.codingCoordStr_2=c.3375A>C;refseq.codonCoord_1=1093;refseq.codonCoord_2=1125;refseq.end_1=87881672;refseq.end_2=87881672;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3647;refseq.mrnaCoord_2=3575;refseq.name2_1=GRM5;refseq.name2_2=GRM5;refseq.name_1=NM_000842;refseq.name_2=NM_001143831;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1093G;refseq.proteinCoordStr_2=p.G1125G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=649;refseq.spliceDist_2=649;refseq.start_1=87881672;refseq.start_2=87881672;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr11 88657609 . G A 74.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=244;Dels=0.00;HRun=2;HaplotypeScore=11.25;MQ=57.32;MQ0=9;OQ=7823.08;QD=32.06;RankSumP=1.00000;SB=-1473.39;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1205G>A;refseq.codonCoord=402;refseq.end=88657609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_000372;refseq.name2=TYR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R402Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=21;refseq.start=88657609;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr11 88668005 . G A 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.500000;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1413G>A;refseq.codonCoord=471;refseq.end=88668005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1495;refseq.name=NM_000372;refseq.name2=TYR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A471A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=47;refseq.start=88668005;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr11 88668038 . G C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.690476;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1446G>C;refseq.codonCoord=482;refseq.end=88668038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_000372;refseq.name2=TYR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A482A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=80;refseq.start=88668038;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr11 88708714 . T A 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.203258;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.1443A>T;refseq.codingCoordStr_3=c.1491A>T;refseq.codingCoordStr_4=c.1563A>T;refseq.codonCoord_2=481;refseq.codonCoord_3=497;refseq.codonCoord_4=521;refseq.end_1=88708714;refseq.end_2=88708714;refseq.end_3=88708714;refseq.end_4=88708714;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1798;refseq.mrnaCoord_2=1682;refseq.mrnaCoord_3=2027;refseq.mrnaCoord_4=1802;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NR_026571;refseq.name_2=NM_001143836;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I481I;refseq.proteinCoordStr_3=p.I497I;refseq.proteinCoordStr_4=p.I521I;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.start_1=88708714;refseq.start_2=88708714;refseq.start_3=88708714;refseq.start_4=88708714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=soap GT 1/0 chr11 88708716 . T G 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.266733;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.1441A>C;refseq.codingCoordStr_3=c.1489A>C;refseq.codingCoordStr_4=c.1561A>C;refseq.codonCoord_2=481;refseq.codonCoord_3=497;refseq.codonCoord_4=521;refseq.end_1=88708716;refseq.end_2=88708716;refseq.end_3=88708716;refseq.end_4=88708716;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1796;refseq.mrnaCoord_2=1680;refseq.mrnaCoord_3=2025;refseq.mrnaCoord_4=1800;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NR_026571;refseq.name_2=NM_001143836;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I481L;refseq.proteinCoordStr_3=p.I497L;refseq.proteinCoordStr_4=p.I521L;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.start_1=88708716;refseq.start_2=88708716;refseq.start_3=88708716;refseq.start_4=88708716;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=soap GT 1/0 chr11 88714932 . C A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.376132;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_3=c.1223G>T;refseq.codingCoordStr_4=c.1295G>T;refseq.codonCoord_3=408;refseq.codonCoord_4=432;refseq.end_1=88727767;refseq.end_2=88714932;refseq.end_3=88714932;refseq.end_4=88714932;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1530;refseq.mrnaCoord_3=1759;refseq.mrnaCoord_4=1534;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NM_001143836;refseq.name_2=NR_026571;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.G408V;refseq.proteinCoordStr_4=p.G432V;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=88712998;refseq.start_2=88714932;refseq.start_3=88714932;refseq.start_4=88714932;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=FilteredInAll GT 1/0 chr11 88746259 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.236606;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.1124G>A;refseq.codingCoordStr_3=c.1052G>A;refseq.codingCoordStr_4=c.1124G>A;refseq.codonCoord_2=375;refseq.codonCoord_3=351;refseq.codonCoord_4=375;refseq.end_1=88746259;refseq.end_2=88746259;refseq.end_3=88746259;refseq.end_4=88746259;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1359;refseq.mrnaCoord_2=1363;refseq.mrnaCoord_3=1588;refseq.mrnaCoord_4=1363;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NR_026571;refseq.name_2=NM_001143836;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G375E;refseq.proteinCoordStr_3=p.G351E;refseq.proteinCoordStr_4=p.G375E;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.spliceDist_4=-12;refseq.start_1=88746259;refseq.start_2=88746259;refseq.start_3=88746259;refseq.start_4=88746259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=soap GT 0/1 chr11 88773097 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=1;HaplotypeScore=10.11;MQ=30.17;MQ0=80;OQ=10106.35;QD=29.99;RankSumP=1.00000;SB=-3365.75;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.945G>A;refseq.codingCoordStr_3=c.873G>A;refseq.codingCoordStr_4=c.945G>A;refseq.codonCoord_2=315;refseq.codonCoord_3=291;refseq.codonCoord_4=315;refseq.end_1=88773097;refseq.end_2=88773097;refseq.end_3=88773097;refseq.end_4=88773097;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1184;refseq.mrnaCoord_3=1409;refseq.mrnaCoord_4=1184;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NR_026571;refseq.name_2=NM_001143836;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.M315I;refseq.proteinCoordStr_3=p.M291I;refseq.proteinCoordStr_4=p.M315I;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.spliceDist_4=-67;refseq.start_1=88773097;refseq.start_2=88773097;refseq.start_3=88773097;refseq.start_4=88773097;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/1 chr11 88773104 . G A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.346332;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.938C>T;refseq.codingCoordStr_3=c.866C>T;refseq.codingCoordStr_4=c.938C>T;refseq.codonCoord_2=313;refseq.codonCoord_3=289;refseq.codonCoord_4=313;refseq.end_1=88773104;refseq.end_2=88773104;refseq.end_3=88773104;refseq.end_4=88773104;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1173;refseq.mrnaCoord_2=1177;refseq.mrnaCoord_3=1402;refseq.mrnaCoord_4=1177;refseq.name2_1=NOX4;refseq.name2_2=NOX4;refseq.name2_3=NOX4;refseq.name2_4=NOX4;refseq.name_1=NR_026571;refseq.name_2=NM_001143836;refseq.name_3=NM_001143837;refseq.name_4=NM_016931;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S313L;refseq.proteinCoordStr_3=p.S289L;refseq.proteinCoordStr_4=p.S313L;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.start_1=88773104;refseq.start_2=88773104;refseq.start_3=88773104;refseq.start_4=88773104;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=soap GT 1/0 chr11 89042276 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.0819067;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.52T>C;refseq.codonCoord=18;refseq.end=89042276;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S18P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-44;refseq.start=89042276;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr11 89043245 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.157893;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.135G>A;refseq.codonCoord=45;refseq.end=89043245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T45T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=40;refseq.start=89043245;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/0 chr11 89044790 . C T 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.171189;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.269C>T;refseq.codonCoord=90;refseq.end=89044790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T90I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-33;refseq.start=89044790;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 0/1 chr11 89048923 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.106482;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.387T>G;refseq.codonCoord=129;refseq.end=89048923;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D129E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=89048923;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr11 89053429 . C G 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=64.67;MQ0=4;OQ=314.63;QD=6.05;RankSumP=0.380341;SB=-171.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.453C>G;refseq.codonCoord=151;refseq.end=89053429;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N151K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=89053429;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr11 89063912 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.276501;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.914A>G;refseq.codonCoord=305;refseq.end=89063912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N305S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-51;refseq.start=89063912;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr11 89063953 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.262676;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.955T>G;refseq.codonCoord=319;refseq.end=89063953;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1481;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L319V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=89063953;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 1/0 chr11 89064285 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.229378;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.987A>G;refseq.codonCoord=329;refseq.end=89064285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K329K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=23;refseq.start=89064285;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr11 89064315 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.282664;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1017C>T;refseq.codonCoord=339;refseq.end=89064315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_153696;refseq.name2=FOLH1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S339S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-30;refseq.start=89064315;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr11 89171188 . C T 183.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=15.40;MQ=48.31;MQ0=14;OQ=4244.19;QD=17.76;RankSumP=0.436947;SB=-1767.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1117G>A;refseq.codonCoord=373;refseq.end=89171188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_020358;refseq.name2=TRIM49;refseq.positionType=CDS;refseq.proteinCoordStr=p.G373R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=258;refseq.start=89171188;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr11 89171267 rs11824402 A G 0.30 PASS AC=1;AF=0.50;AN=2;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=13.46;MQ=18.89;MQ0=253;OQ=177.91;QD=0.55;SB=60.68;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1038T>C;refseq.codonCoord=346;refseq.end=89171267;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_020358;refseq.name2=TRIM49;refseq.positionType=CDS;refseq.proteinCoordStr=p.H346H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=179;refseq.start=89171267;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=gatk GT:AD:DP:GL:GQ 0/1:240,84:58:-38.54,-17.47,-199.61:99 chr11 89174588 . A C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.514369;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.668T>G;refseq.codonCoord=223;refseq.end=89174588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_020358;refseq.name2=TRIM49;refseq.positionType=CDS;refseq.proteinCoordStr=p.M223R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-71;refseq.start=89174588;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chr11 89174686 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.728490;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.570T>C;refseq.codonCoord=190;refseq.end=89174686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_020358;refseq.name2=TRIM49;refseq.positionType=CDS;refseq.proteinCoordStr=p.H190H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=63;refseq.start=89174686;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr11 89174695 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.458665;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.561T>C;refseq.codonCoord=187;refseq.end=89174695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_020358;refseq.name2=TRIM49;refseq.positionType=CDS;refseq.proteinCoordStr=p.P187P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=54;refseq.start=89174695;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr11 89508403 . G A 139.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=9.93;MQ=98.43;MQ0=0;OQ=4453.68;QD=20.43;RankSumP=0.150196;SB=-1275.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.111G>A;refseq.codonCoord=37;refseq.end=89508403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_005467;refseq.name2=NAALAD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T37T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=29;refseq.start=89508403;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr11 89575234 . G T 223.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=87.59;MQ0=9;OQ=12258.32;QD=37.49;RankSumP=1.00000;SB=-5935.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.929C>A;refseq.codingCoordStr_2=c.986C>A;refseq.codonCoord_1=310;refseq.codonCoord_2=329;refseq.end_1=89575234;refseq.end_2=89575234;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1339;refseq.mrnaCoord_2=1396;refseq.name2_1=CHORDC1;refseq.name2_2=CHORDC1;refseq.name_1=NM_001144073;refseq.name_2=NM_012124;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A310D;refseq.proteinCoordStr_2=p.A329D;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=134;refseq.spliceDist_2=134;refseq.start_1=89575234;refseq.start_2=89575234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr11 92342610 . G A 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=97.49;MQ0=0;OQ=238.08;QD=9.16;RankSumP=0.178275;SB=-75.06;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.71G>A;refseq.codonCoord=24;refseq.end=92342610;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_005959;refseq.name2=MTNR1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G24E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-153;refseq.start=92342610;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr11 92538792 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.807T>G;refseq.codonCoord=269;refseq.end=92538792;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_152313;refseq.name2=SLC36A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G269G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=39;refseq.start=92538792;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr11 92570636 . G A 22.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=95.57;MQ0=0;QD=1.24;SB=-35.52;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.11C>T;refseq.codonCoord=4;refseq.end=92570636;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=108;refseq.name=NM_152313;refseq.name2=SLC36A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-45;refseq.start=92570636;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,2:7:-7.63,-2.11,-17.73:55.16 chr11 92851902 . C T 290.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.90;MQ0=0;OQ=5378.56;QD=37.61;RankSumP=1.00000;SB=-669.31;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.102G>A;refseq.codonCoord=34;refseq.end=92851902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_020179;refseq.name2=C11orf75;refseq.positionType=CDS;refseq.proteinCoordStr=p.V34V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=182;refseq.start=92851902;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr11 93103823 . A C 131.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1175.57;QD=13.83;RankSumP=0.449232;SB=-562.77;SecondBestBaseQ=33;refseq.chr=chr11;refseq.end=93103823;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=91;refseq.name=NR_003032;refseq.name2=SNORA32;refseq.positionType=non_coding_exon;refseq.spliceDist=-31;refseq.start=93103823;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr11 93106514 . G T 156.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.64;MQ0=0;OQ=3566.29;QD=32.13;RankSumP=1.00000;SB=-602.20;SecondBestBaseQ=2;refseq.chr=chr11;refseq.end=93106514;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=65;refseq.name=NR_031639;refseq.name2=MIR1304;refseq.positionType=non_coding_exon;refseq.spliceDist=-26;refseq.start=93106514;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr11 93169303 . G A 148.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=12.25;MQ=98.91;MQ0=0;OQ=9726.06;QD=22.00;RankSumP=0.422441;SB=-3791.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1092G>A;refseq.codonCoord=364;refseq.end=93169303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_004268;refseq.name2=MED17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P364P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-52;refseq.start=93169303;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr11 93502141 . A C 253.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=4.61;MQ=98.12;MQ0=0;OQ=4615.59;QD=35.23;RankSumP=1.00000;SB=-1644.18;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.15A>C;refseq.codonCoord=5;refseq.end=93502141;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_015368;refseq.name2=PANX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q5H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-167;refseq.start=93502141;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 93870905 . C G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.43;MQ0=0;OQ=11608.44;QD=50.47;RankSumP=1.00000;SB=-2865.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.279C>G;refseq.codonCoord=93;refseq.end=93870905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_017704;refseq.name2=ANKRD49;refseq.positionType=CDS;refseq.proteinCoordStr=p.L93L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=21;refseq.start=93870905;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 93871099 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=93871099;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=612;refseq.name=NM_017704;refseq.name2=ANKRD49;refseq.positionType=CDS;refseq.proteinCoordStr=p.S158F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=215;refseq.start=93871099;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr11 93959885 . T C 294.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.89;MQ0=0;OQ=4479.51;QD=20.93;RankSumP=0.347735;SB=-1126.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.738T>C;refseq.codonCoord=246;refseq.end=93959885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F246F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=22;refseq.start=93959885;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr11 93960005 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.858G>T;refseq.codonCoord=286;refseq.end=93960005;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L286F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-57;refseq.start=93960005;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr11 93962000 . A T 224.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=532;Dels=0.00;HRun=0;HaplotypeScore=8.20;MQ=98.64;MQ0=0;OQ=9319.67;QD=17.52;RankSumP=0.430133;SB=-3627.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.980A>T;refseq.codonCoord=327;refseq.end=93962000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1191;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q327L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-47;refseq.start=93962000;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 93962001 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=528;Dels=0.00;HRun=2;HaplotypeScore=8.52;MQ=98.63;MQ0=0;OQ=9871.32;QD=18.70;RankSumP=0.333003;SB=-3671.46;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.981G>A;refseq.codonCoord=327;refseq.end=93962001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q327Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-46;refseq.start=93962001;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr11 93966413 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=7.12;MQ=98.97;MQ0=0;OQ=8496.55;QD=25.90;RankSumP=0.348742;SB=-3098.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1108G>C;refseq.codonCoord=370;refseq.end=93966413;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1319;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A370P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-43;refseq.start=93966413;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr11 93976868 . C T 257.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3083.26;QD=42.24;RankSumP=1.00000;SB=-897.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1636C>T;refseq.codonCoord=546;refseq.end=93976868;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1847;refseq.name=NM_152431;refseq.name2=PIWIL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L546L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=93976868;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 94371021 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=5.95088e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.837C>A;refseq.codonCoord=279;refseq.end=94371021;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1669;refseq.name=NM_018039;refseq.name2=KDM4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y279*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1186;refseq.start=94371021;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr11 94502225 . G T 213.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.91;MQ0=0;OQ=9156.03;QD=17.78;RankSumP=0.0203908;SB=-3672.19;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1337G>T;refseq.codonCoord=446;refseq.end=94502225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1412;refseq.name=NM_015036;refseq.name2=ENDOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G446V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1037;refseq.start=94502225;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr11 95151708 . A G 326.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.90;MQ0=0;OQ=2590.09;QD=16.82;RankSumP=0.355792;SB=-1217.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.754T>C;refseq.codonCoord=252;refseq.end=95151708;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_144664;refseq.name2=FAM76B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L252L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=62;refseq.start=95151708;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 95203907 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=9.26;MQ=97.78;MQ0=0;OQ=830.44;QD=11.86;RankSumP=0.213178;SB=-32.63;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1342A>G;refseq.codonCoord=448;refseq.end=95203907;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1563;refseq.name=NM_014679;refseq.name2=CEP57;refseq.positionType=CDS;refseq.proteinCoordStr=p.R448G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=70;refseq.start=95203907;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 95220574 . G A 275.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.48;MQ0=0;OQ=6907.12;QD=19.40;RankSumP=0.00865461;SB=-2864.21;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.1131C>T;refseq.codingCoordStr_3=c.915C>T;refseq.codingCoordStr_4=c.915C>T;refseq.codonCoord_2=377;refseq.codonCoord_3=305;refseq.codonCoord_4=305;refseq.end_1=95220574;refseq.end_2=95220574;refseq.end_3=95220574;refseq.end_4=95220574;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1651;refseq.mrnaCoord_2=1384;refseq.mrnaCoord_3=1578;refseq.mrnaCoord_4=1455;refseq.name2_1=MTMR2;refseq.name2_2=MTMR2;refseq.name2_3=MTMR2;refseq.name2_4=MTMR2;refseq.name_1=NR_023356;refseq.name_2=NM_016156;refseq.name_3=NM_201278;refseq.name_4=NM_201281;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T377T;refseq.proteinCoordStr_3=p.T305T;refseq.proteinCoordStr_4=p.T305T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.start_1=95220574;refseq.start_2=95220574;refseq.start_3=95220574;refseq.start_4=95220574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=filterInsoap-gatk GT 1/0 chr11 95296759 . T G 12.37 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=2.06;RankSumP=0.400000;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_2=c.8A>C;refseq.codingCoordStr_3=c.-403A>C;refseq.codingCoordStr_4=c.-280A>C;refseq.codonCoord_2=3;refseq.end_1=95296759;refseq.end_2=95296759;refseq.end_3=95296759;refseq.end_4=95296759;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=261;refseq.mrnaCoord_2=261;refseq.mrnaCoord_3=261;refseq.mrnaCoord_4=261;refseq.name2_1=MTMR2;refseq.name2_2=MTMR2;refseq.name2_3=MTMR2;refseq.name2_4=MTMR2;refseq.name_1=NR_023356;refseq.name_2=NM_016156;refseq.name_3=NM_201278;refseq.name_4=NM_201281;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=utr5;refseq.proteinCoordStr_2=p.K3T;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.spliceDist_4=-73;refseq.start_1=95296759;refseq.start_2=95296759;refseq.start_3=95296759;refseq.start_4=95296759;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=FilteredInAll GT 1/0 chr11 95756092 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.88;MQ0=0;OQ=974.16;QD=13.16;RankSumP=0.449294;SB=-227.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.980A>G;refseq.codonCoord=327;refseq.end=95756092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1194;refseq.name=NM_024725;refseq.name2=CCDC82;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q327R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-12;refseq.start=95756092;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr11 100368306 . A G 232.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.73;MQ0=0;OQ=5640.16;QD=20.97;RankSumP=4.42484e-07;SB=-1678.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57A>G;refseq.codonCoord=19;refseq.end=100368306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_032021;refseq.name2=TMEM133;refseq.positionType=CDS;refseq.proteinCoordStr=p.E19E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=286;refseq.start=100368306;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 0/1 chr11 100368564 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=608;Dels=0.00;HRun=1;HaplotypeScore=24.64;MQ=98.77;MQ0=0;OQ=11700.53;QD=19.24;RankSumP=0.367812;SB=-4361.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.315C>A;refseq.codonCoord=105;refseq.end=100368564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_032021;refseq.name2=TMEM133;refseq.positionType=CDS;refseq.proteinCoordStr=p.V105V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=544;refseq.start=100368564;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr11 100503686 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=3;HRun=3;RankSumP=0.315774;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1326A>C;refseq.codonCoord=442;refseq.end=100503686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2069;refseq.name=NM_000926;refseq.name2=PGR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A442A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-312;refseq.start=100503686;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr11 100504463 . T C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.49;MQ0=0;OQ=164.22;QD=7.82;RankSumP=0.627890;SB=-75.32;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.549A>G;refseq.codonCoord=183;refseq.end=100504463;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_000926;refseq.name2=PGR;refseq.positionType=CDS;refseq.proteinCoordStr=p.K183K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-1089;refseq.start=100504463;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr11 100830998 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=148;Dels=0.00;HRun=3;HaplotypeScore=3.45;MQ=98.62;MQ0=0;OQ=2220.33;QD=15.00;RankSumP=0.462106;SB=-1040.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2529C>T;refseq.codonCoord=843;refseq.end=100830998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2954;refseq.name=NM_004621;refseq.name2=TRPC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F843F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-40;refseq.start=100830998;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 100852303 . A G 224.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=0;HaplotypeScore=6.70;MQ=98.68;MQ0=0;OQ=9897.23;QD=20.45;RankSumP=0.460869;SB=-3924.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1683T>C;refseq.codonCoord=561;refseq.end=100852303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2108;refseq.name=NM_004621;refseq.name2=TRPC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N561N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-62;refseq.start=100852303;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr11 100864960 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=11.42;MQ=98.81;MQ0=0;OQ=4684.00;QD=25.32;RankSumP=0.247103;SB=-2021.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1211C>T;refseq.codonCoord=404;refseq.end=100864960;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_004621;refseq.name2=TRPC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A404V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=83;refseq.start=100864960;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 100959402 . G A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.74;MQ0=0;OQ=107.31;QD=15.33;RankSumP=0.750000;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.43C>T;refseq.codonCoord=15;refseq.end=100959402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_004621;refseq.name2=TRPC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P15S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-128;refseq.start=100959402;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr11 101276458 . G A 239.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=10620.24;QD=43.00;RankSumP=1.00000;SB=-5191.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.574C>T;refseq.codonCoord=192;refseq.end=101276458;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_178127;refseq.name2=ANGPTL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R192W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=34;refseq.start=101276458;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr11 101291224 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=58;Dels=0.00;HRun=2;HaplotypeScore=5.57;MQ=97.44;MQ0=0;OQ=658.89;QD=11.36;RankSumP=0.620279;SB=-353.42;SecondBestBaseQ=26;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.-2G>A;refseq.end_1=101291949;refseq.end_2=101291224;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_2=269;refseq.name2_1=ANGPTL5;refseq.name2_2=KIAA1377;refseq.name_1=NM_178127;refseq.name_2=NM_020802;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.spliceDist_2=-130;refseq.start_1=101283953;refseq.start_2=101291224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr11 101337688 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=3;HaplotypeScore=5.62;MQ=98.29;MQ0=0;OQ=4061.40;QD=39.43;RankSumP=1.00000;SB=-950.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.712G>T;refseq.codonCoord=238;refseq.end=101337688;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_020802;refseq.name2=KIAA1377;refseq.positionType=CDS;refseq.proteinCoordStr=p.G238C;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=101337688;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr11 101338854 . C T 380.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.28;MQ0=0;OQ=2202.91;QD=41.56;RankSumP=1.00000;SB=-873.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1878C>T;refseq.codonCoord=626;refseq.end=101338854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2148;refseq.name=NM_020802;refseq.name2=KIAA1377;refseq.positionType=CDS;refseq.proteinCoordStr=p.T626T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-968;refseq.start=101338854;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr11 101357843 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.382889;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2972G>A;refseq.codonCoord=991;refseq.end=101357843;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3242;refseq.name=NM_020802;refseq.name2=KIAA1377;refseq.positionType=CDS;refseq.proteinCoordStr=p.S991N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=14;refseq.start=101357843;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr11 101362968 . G A 300.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=1.29;MQ=98.80;MQ0=0;OQ=12567.76;QD=42.89;RankSumP=1.00000;SB=-4324.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3230G>A;refseq.codonCoord=1077;refseq.end=101362968;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3500;refseq.name=NM_020802;refseq.name2=KIAA1377;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1077N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-15;refseq.start=101362968;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr11 101903803 . C T 241.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=14.53;MQ=98.26;MQ0=0;OQ=7378.77;QD=22.63;RankSumP=0.326959;SB=-3110.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.230G>A;refseq.codonCoord=77;refseq.end=101903803;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_002423;refseq.name2=MMP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R77H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-106;refseq.start=101903803;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr11 101982587 . G T 232.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=290;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=98.76;MQ0=0;OQ=5848.98;QD=20.17;RankSumP=0.0977032;SB=-2224.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.842C>A;refseq.codonCoord=281;refseq.end=101982587;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_004771;refseq.name2=MMP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.T281N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=31;refseq.start=101982587;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 101982605 . A G 278.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=15.54;MQ=98.71;MQ0=0;OQ=5659.25;QD=20.36;RankSumP=0.298417;SB=-2079.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.824T>C;refseq.codonCoord=275;refseq.end=101982605;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_004771;refseq.name2=MMP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.V275A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=13;refseq.start=101982605;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr11 102001208 . T G 188.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.86;MQ0=0;OQ=1705.85;QD=13.54;RankSumP=0.481637;SB=-861.25;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.53A>C;refseq.codonCoord=18;refseq.end=102001208;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=66;refseq.name=NM_004771;refseq.name2=MMP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.K18T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=66;refseq.start=102001208;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr11 102067910 . C T 123.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=2563.63;QD=19.57;RankSumP=0.206543;SB=-780.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1339G>A;refseq.codonCoord=447;refseq.end=102067910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.D447N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=42;refseq.start=102067910;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr11 102068949 . C T 177.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=1916.24;QD=14.63;RankSumP=0.316340;SB=-881.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1227G>A;refseq.codonCoord=409;refseq.end=102068949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.G409G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=34;refseq.start=102068949;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 102071030 . C A 110.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=98.89;MQ0=0;OQ=6274.07;QD=19.61;RankSumP=0.336999;SB=-2577.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.911G>T;refseq.codonCoord=304;refseq.end=102071030;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.W304L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=102071030;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr11 102072417 . T A 350.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=98.71;MQ0=0;OQ=4562.13;QD=18.70;RankSumP=0.350271;SB=-1442.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.797A>T;refseq.codonCoord=266;refseq.end=102072417;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.E266V;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=16;refseq.start=102072417;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr11 102081568 . T C 312.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=97.89;MQ0=0;OQ=1995.73;QD=17.98;RankSumP=0.366908;SB=-901.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.88A>G;refseq.codonCoord=30;refseq.end=102081568;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=111;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.M30V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-15;refseq.start=102081568;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr11 102081585 . G A 323.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=98.05;MQ0=0;OQ=2542.16;QD=19.56;RankSumP=0.478596;SB=-1262.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.71C>T;refseq.codonCoord=24;refseq.end=102081585;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_022122;refseq.name2=MMP27;refseq.positionType=CDS;refseq.proteinCoordStr=p.T24M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-32;refseq.start=102081585;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr11 102098458 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=1;HaplotypeScore=11.42;MQ=98.88;MQ0=0;OQ=9823.10;QD=22.48;RankSumP=0.317749;SB=-2707.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.259A>G;refseq.codonCoord=87;refseq.end=102098458;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_002424;refseq.name2=MMP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K87E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-89;refseq.start=102098458;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr11 102100702 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1192.45;QD=15.09;RankSumP=0.403354;SB=-206.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.95C>T;refseq.codonCoord=32;refseq.end=102100702;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=194;refseq.name=NM_002424;refseq.name2=MMP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=102100702;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr11 102155164 . A G 234.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=86.98;MQ0=46;OQ=5737.24;QD=18.63;RankSumP=0.0452075;SB=-1516.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.486T>C;refseq.codonCoord=162;refseq.end=102155164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_002425;refseq.name2=MMP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F162F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-11;refseq.start=102155164;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr11 102171405 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=1.47184e-09;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.571C>A;refseq.codingCoordStr_2=c.769C>A;refseq.codonCoord_1=191;refseq.codonCoord_2=257;refseq.end_1=102171405;refseq.end_2=102171405;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=760;refseq.mrnaCoord_2=912;refseq.name2_1=MMP1;refseq.name2_2=MMP1;refseq.name_1=NM_001145938;refseq.name_2=NM_002421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q191K;refseq.proteinCoordStr_2=p.Q257K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=102171405;refseq.start_2=102171405;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr11 102171526 . T C 303.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=5.36;MQ=98.81;MQ0=0;OQ=6816.95;QD=37.66;RankSumP=1.00000;SB=-1985.80;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.450A>G;refseq.codingCoordStr_2=c.648A>G;refseq.codonCoord_1=150;refseq.codonCoord_2=216;refseq.end_1=102171526;refseq.end_2=102171526;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=791;refseq.name2_1=MMP1;refseq.name2_2=MMP1;refseq.name_1=NM_001145938;refseq.name_2=NM_002421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A150A;refseq.proteinCoordStr_2=p.A216A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=102171526;refseq.start_2=102171526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr11 102214635 . A G 149.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.84;MQ0=0;OQ=2861.80;QD=17.89;RankSumP=0.274818;SB=-580.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1086T>C;refseq.codonCoord=362;refseq.end=102214635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_002422;refseq.name2=MMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A362A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=17;refseq.start=102214635;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr11 102218675 . A G 253.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=95.63;MQ0=0;OQ=1614.34;QD=18.14;RankSumP=0.203869;SB=-800.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.288T>C;refseq.codonCoord=96;refseq.end=102218675;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=353;refseq.name=NM_002422;refseq.name2=MMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D96D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-63;refseq.start=102218675;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr11 102218830 . T C 175.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=831.92;QD=15.70;RankSumP=0.385259;SB=-409.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.133A>G;refseq.codonCoord=45;refseq.end=102218830;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_002422;refseq.name2=MMP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K45E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=28;refseq.start=102218830;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr11 103302913 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.924T>G;refseq.codingCoordStr_2=c.906T>G;refseq.codonCoord_1=308;refseq.codonCoord_2=302;refseq.end_1=103302913;refseq.end_2=103302913;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1296;refseq.mrnaCoord_2=1278;refseq.name2_1=PDGFD;refseq.name2_2=PDGFD;refseq.name_1=NM_025208;refseq.name_2=NM_033135;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C308W;refseq.proteinCoordStr_2=p.C302W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=103302913;refseq.start_2=103302913;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr11 103413166 . G A 193.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.27;MQ0=0;OQ=649.51;QD=16.24;RankSumP=0.256122;SB=-342.85;SecondBestBaseQ=26;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.406G>A;refseq.codonCoord_3=136;refseq.end_1=103539731;refseq.end_2=103539731;refseq.end_3=103413166;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=649;refseq.name2_1=PDGFD;refseq.name2_2=PDGFD;refseq.name2_3=DDI1;refseq.name_1=NM_033135;refseq.name_2=NM_025208;refseq.name_3=NM_001001711;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G136S;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGC;refseq.spliceDist_3=649;refseq.start_1=103376186;refseq.start_2=103376204;refseq.start_3=103413166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Ser;refseq.variantCodon_3=AGC;set=Intersection GT 1/0 chr11 103413945 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=10.79;MQ=99.00;MQ0=0;OQ=998.79;QD=8.61;RankSumP=0.110673;SB=-266.07;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.1185G>A;refseq.codonCoord_3=395;refseq.end_1=103539731;refseq.end_2=103539731;refseq.end_3=103413945;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1428;refseq.name2_1=PDGFD;refseq.name2_2=PDGFD;refseq.name2_3=DDI1;refseq.name_1=NM_033135;refseq.name_2=NM_025208;refseq.name_3=NM_001001711;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E395E;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAG;refseq.spliceDist_3=-1188;refseq.start_1=103376186;refseq.start_2=103376204;refseq.start_3=103413945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr11 104324537 . T C 252.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=7.92;MQ=98.85;MQ0=0;OQ=12210.58;QD=40.43;RankSumP=1.00000;SB=-4903.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.858A>G;refseq.codingCoordStr_2=c.690A>G;refseq.codonCoord_1=286;refseq.codonCoord_2=230;refseq.end_1=104324537;refseq.end_2=104324537;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=931;refseq.mrnaCoord_2=950;refseq.name2_1=CASP4;refseq.name2_2=CASP4;refseq.name_1=NM_001225;refseq.name_2=NM_033306;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L286L;refseq.proteinCoordStr_2=p.L230L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=104324537;refseq.start_2=104324537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr11 104344454 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.chr=chr11;refseq.codingCoordStr=c.7+2;refseq.end=104344454;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001225;refseq.name2=CASP4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=104344454;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr11 104374918 . G C 242.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.98;MQ0=0;OQ=8087.78;QD=24.00;RankSumP=0.371870;SB=-2144.61;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_2=c.826C>G;refseq.codingCoordStr_3=c.574C>G;refseq.codingCoordStr_4=c.346C>G;refseq.codingCoordStr_5=c.1039C>G;refseq.codingCoordStr_6=c.1000C>G;refseq.codonCoord_2=276;refseq.codonCoord_3=192;refseq.codonCoord_4=116;refseq.codonCoord_5=347;refseq.codonCoord_6=334;refseq.end_1=104374918;refseq.end_2=104374918;refseq.end_3=104374918;refseq.end_4=104374918;refseq.end_5=104374918;refseq.end_6=104374918;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=858;refseq.mrnaCoord_3=606;refseq.mrnaCoord_4=496;refseq.mrnaCoord_5=1071;refseq.mrnaCoord_6=1032;refseq.name2_1=CASP5;refseq.name2_2=CASP5;refseq.name2_3=CASP5;refseq.name2_4=CASP5;refseq.name2_5=CASP5;refseq.name2_6=CASP5;refseq.name_1=NR_024239;refseq.name_2=NM_001136109;refseq.name_3=NM_001136110;refseq.name_4=NM_001136111;refseq.name_5=NM_001136112;refseq.name_6=NM_004347;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.L276V;refseq.proteinCoordStr_3=p.L192V;refseq.proteinCoordStr_4=p.L116V;refseq.proteinCoordStr_5=p.L347V;refseq.proteinCoordStr_6=p.L334V;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.spliceDist_5=48;refseq.spliceDist_6=48;refseq.start_1=104374918;refseq.start_2=104374918;refseq.start_3=104374918;refseq.start_4=104374918;refseq.start_5=104374918;refseq.start_6=104374918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;set=Intersection GT 0/1 chr11 106932832 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.237C>A;refseq.codonCoord=79;refseq.end=106932832;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_138775;refseq.name2=ALKBH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N79K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=108;refseq.start=106932832;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr11 107422297 . A G 311.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=6655.87;QD=40.58;RankSumP=1.00000;SB=-1538.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.225A>G;refseq.codonCoord=75;refseq.end=107422297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_003478;refseq.name2=CUL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q75Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=107422297;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr11 107549198 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=2;HaplotypeScore=7.86;MQ=98.95;MQ0=0;OQ=3838.32;QD=21.09;RankSumP=0.275085;SB=-636.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1723G>A;refseq.codonCoord=575;refseq.end=107549198;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1825;refseq.name=NM_002519;refseq.name2=NPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V575I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=591;refseq.start=107549198;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr11 107549301 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=1665.94;QD=16.83;RankSumP=0.426378;SB=-566.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1620A>T;refseq.codonCoord=540;refseq.end=107549301;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1722;refseq.name=NM_002519;refseq.name2=NPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L540F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=488;refseq.start=107549301;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 107565206 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.393T>C;refseq.codonCoord=131;refseq.end=107565206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_002519;refseq.name2=NPAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A131A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=62;refseq.start=107565206;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr11 107619959 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=56;Dels=0.00;HRun=2;HaplotypeScore=4.44;MQ=97.30;MQ0=0;OQ=232.48;QD=4.15;RankSumP=0.500000;SB=26.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.566G>A;refseq.codonCoord=189;refseq.end=107619959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=951;refseq.name=NM_000051;refseq.name2=ATM;refseq.positionType=CDS;refseq.proteinCoordStr=p.R189K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=70;refseq.start=107619959;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/0 chr11 107626636 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=15;RankSumP=1.08307e-08;SecondBestBaseQ=13;refseq.chr=chr11;refseq.codingCoordStr=c.1236-2;refseq.end=107626636;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_000051;refseq.name2=ATM;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=107626636;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr11 107680672 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=97.64;MQ0=0;OQ=1904.09;QD=16.70;RankSumP=0.426380;SB=-897.84;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.5557G>A;refseq.codingCoordStr_2=c.1513G>A;refseq.codonCoord_1=1853;refseq.codonCoord_2=505;refseq.end_1=107680672;refseq.end_2=107680672;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5942;refseq.mrnaCoord_2=1772;refseq.name2_1=ATM;refseq.name2_2=ATM;refseq.name_1=NM_000051;refseq.name_2=NM_138292;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1853N;refseq.proteinCoordStr_2=p.D505N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=107680672;refseq.start_2=107680672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr11 107688377 . A G 205.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=7.83;MQ=98.71;MQ0=0;OQ=17957.48;QD=41.76;RankSumP=1.00000;SB=-8712.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.5948A>G;refseq.codingCoordStr_2=c.1904A>G;refseq.codonCoord_1=1983;refseq.codonCoord_2=635;refseq.end_1=107688377;refseq.end_2=107688377;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6333;refseq.mrnaCoord_2=2163;refseq.name2_1=ATM;refseq.name2_2=ATM;refseq.name_1=NM_000051;refseq.name_2=NM_138292;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1983S;refseq.proteinCoordStr_2=p.N635S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=107688377;refseq.start_2=107688377;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr11 107782744 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.385T>G;refseq.codonCoord=129;refseq.end=107782744;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_152587;refseq.name2=C11orf65;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y129D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-45;refseq.start=107782744;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr11 107885522 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=735;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=98.79;MQ0=0;OQ=13987.05;QD=19.03;RankSumP=0.343746;SB=-5683.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.5694A>G;refseq.codingCoordStr_2=c.5358A>G;refseq.codingCoordStr_3=c.5922A>G;refseq.codonCoord_1=1898;refseq.codonCoord_2=1786;refseq.codonCoord_3=1974;refseq.end_1=107885522;refseq.end_2=107885522;refseq.end_3=107885522;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5989;refseq.mrnaCoord_2=5675;refseq.mrnaCoord_3=6033;refseq.name2_1=EXPH5;refseq.name2_2=EXPH5;refseq.name2_3=EXPH5;refseq.name_1=NM_001144763;refseq.name_2=NM_001144765;refseq.name_3=NM_015065;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1898T;refseq.proteinCoordStr_2=p.T1786T;refseq.proteinCoordStr_3=p.T1974T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-4155;refseq.spliceDist_2=-4155;refseq.spliceDist_3=-4155;refseq.start_1=107885522;refseq.start_2=107885522;refseq.start_3=107885522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr11 107885545 . T C 126.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=98.90;MQ0=0;OQ=26834.31;QD=42.26;RankSumP=1.00000;SB=-9956.64;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.5671A>G;refseq.codingCoordStr_2=c.5335A>G;refseq.codingCoordStr_3=c.5899A>G;refseq.codonCoord_1=1891;refseq.codonCoord_2=1779;refseq.codonCoord_3=1967;refseq.end_1=107885545;refseq.end_2=107885545;refseq.end_3=107885545;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5966;refseq.mrnaCoord_2=5652;refseq.mrnaCoord_3=6010;refseq.name2_1=EXPH5;refseq.name2_2=EXPH5;refseq.name2_3=EXPH5;refseq.name_1=NM_001144763;refseq.name_2=NM_001144765;refseq.name_3=NM_015065;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N1891D;refseq.proteinCoordStr_2=p.N1779D;refseq.proteinCoordStr_3=p.N1967D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-4178;refseq.spliceDist_2=-4178;refseq.spliceDist_3=-4178;refseq.start_1=107885545;refseq.start_2=107885545;refseq.start_3=107885545;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr11 108064874 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.850A>C;refseq.codonCoord=284;refseq.end=108064874;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_004398;refseq.name2=DDX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T284P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=108064874;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 109956042 . G A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.354763;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2838C>T;refseq.codonCoord=946;refseq.end=109956042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3123;refseq.name=NM_020809;refseq.name2=ARHGAP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.S946S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1118;refseq.start=109956042;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/0 chr11 110873257 . G T 297.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.77;MQ0=0;OQ=15008.31;QD=38.09;RankSumP=1.00000;SB=-5478.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.399C>A;refseq.codonCoord=133;refseq.end=110873257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_017589;refseq.name2=BTG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=88;refseq.start=110873257;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr11 110891449 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.230A>C;refseq.codingCoordStr_2=c.230A>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=110891449;refseq.end_2=110891449;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=230;refseq.mrnaCoord_2=230;refseq.name2_1=C11orf88;refseq.name2_2=C11orf88;refseq.name_1=NM_001100388;refseq.name_2=NM_207430;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N77T;refseq.proteinCoordStr_2=p.N77T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=110891449;refseq.start_2=110891449;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr11 110925574 . A G 244.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=5.91;MQ=98.68;MQ0=0;OQ=13433.48;QD=34.89;RankSumP=1.00000;SB=-4582.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.405A>G;refseq.codonCoord=135;refseq.end=110925574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_178834;refseq.name2=LAYN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P135P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=22;refseq.start=110925574;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr11 110936205 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.937G>A;refseq.codonCoord=313;refseq.end=110936205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_178834;refseq.name2=LAYN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E313K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=176;refseq.start=110936205;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr11 111229343 . C T 269.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=13.27;MQ=98.99;MQ0=0;OQ=3992.27;QD=19.57;RankSumP=0.467566;SB=-1182.32;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.352G>A;refseq.codingCoordStr_2=c.352G>A;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.end_1=111229343;refseq.end_2=111229343;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1241;refseq.mrnaCoord_2=1241;refseq.name2_1=ALG9;refseq.name2_2=ALG9;refseq.name_1=NM_001077691;refseq.name_2=NM_001077692;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V118I;refseq.proteinCoordStr_2=p.V118I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=111229343;refseq.start_2=111229343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr11 111259784 . A C 177.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=459;Dels=0.00;HRun=1;HaplotypeScore=10.28;MQ=98.76;MQ0=0;OQ=8723.20;QD=19.00;RankSumP=0.145242;SB=-2154.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.423A>C;refseq.codonCoord=141;refseq.end=111259784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_022761;refseq.name2=C11orf1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=80;refseq.start=111259784;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr11 111287494 . C T 187.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.31;MQ0=0;OQ=1745.13;QD=18.57;RankSumP=0.0524949;SB=-819.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.165G>A;refseq.codonCoord=55;refseq.end=111287494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_001885;refseq.name2=CRYAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L55L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-37;refseq.start=111287494;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr11 111289439 . C T 222.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=13.65;MQ=98.73;MQ0=0;OQ=6059.62;QD=19.93;RankSumP=0.00224894;SB=-2109.23;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.159C>T;refseq.codonCoord=53;refseq.end=111289439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_001541;refseq.name2=HSPB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=65;refseq.start=111289439;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 0/1 chr11 111300295 . C G 258.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=97.75;MQ0=0;OQ=1521.23;QD=16.36;RankSumP=0.0720263;SB=-693.31;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.68C>G;refseq.codonCoord=23;refseq.end=111300295;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_080659;refseq.name2=C11orf52;refseq.positionType=CDS;refseq.proteinCoordStr=p.T23R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=111300295;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr11 111301615 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.99G>C;refseq.codonCoord=33;refseq.end=111301615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_080659;refseq.name2=C11orf52;refseq.positionType=CDS;refseq.proteinCoordStr=p.P33P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=29;refseq.start=111301615;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 111302114 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=359;Dels=0.00;HRun=1;HaplotypeScore=12.44;MQ=98.64;MQ0=0;OQ=6727.15;QD=18.74;RankSumP=0.344423;SB=-1798.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.353A>G;refseq.codonCoord=118;refseq.end=111302114;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_080659;refseq.name2=C11orf52;refseq.positionType=CDS;refseq.proteinCoordStr=p.K118R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=221;refseq.start=111302114;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr11 111401534 . C T 187.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=8.09;MQ=97.48;MQ0=0;OQ=3133.41;QD=15.59;RankSumP=0.0337613;SB=-1101.63;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.128C>T;refseq.codonCoord=43;refseq.end=111401534;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=787;refseq.name=NM_001931;refseq.name2=DLAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A43V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-152;refseq.start=111401534;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr11 111413372 . T C 197.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.96;MQ0=0;OQ=2404.81;QD=14.49;RankSumP=0.00271940;SB=-981.51;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.953T>C;refseq.codonCoord=318;refseq.end=111413372;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_001931;refseq.name2=DLAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V318A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-23;refseq.start=111413372;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/0 chr11 111421857 . G A 189.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.90;MQ0=0;OQ=4044.86;QD=21.40;RankSumP=0.365427;SB=-1536.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1351G>A;refseq.codonCoord=451;refseq.end=111421857;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2010;refseq.name=NM_001931;refseq.name2=DLAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D451N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-48;refseq.start=111421857;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr11 111470783 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.472090;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.359T>C;refseq.codonCoord=120;refseq.end=111470783;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_003002;refseq.name2=SDHD;refseq.positionType=CDS;refseq.proteinCoordStr=p.L120S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=45;refseq.start=111470783;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 1/0 chr11 111570644 . T C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=643;Dels=0.00;HRun=2;HaplotypeScore=16.84;MQ=98.77;MQ0=0;OQ=24625.86;QD=38.30;RankSumP=1.00000;SB=-12270.79;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.590T>C;refseq.codingCoordStr_2=c.692T>C;refseq.codonCoord_1=197;refseq.codonCoord_2=231;refseq.end_1=111570644;refseq.end_2=111570644;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=809;refseq.name2_1=BCO2;refseq.name2_2=BCO2;refseq.name_1=NM_001037290;refseq.name_2=NM_031938;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L197P;refseq.proteinCoordStr_2=p.L231P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=111570644;refseq.start_2=111570644;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr11 111590814 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1350T>G;refseq.codingCoordStr_2=c.1452T>G;refseq.codonCoord_1=450;refseq.codonCoord_2=484;refseq.end_1=111590814;refseq.end_2=111590814;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1457;refseq.mrnaCoord_2=1569;refseq.name2_1=BCO2;refseq.name2_2=BCO2;refseq.name_1=NM_001037290;refseq.name_2=NM_031938;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C450W;refseq.proteinCoordStr_2=p.C484W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=111590814;refseq.start_2=111590814;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr11 111593709 . A C 333.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.56;MQ0=0;OQ=3865.11;QD=42.47;RankSumP=1.00000;SB=-549.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1540A>C;refseq.codingCoordStr_2=c.1642A>C;refseq.codonCoord_1=514;refseq.codonCoord_2=548;refseq.end_1=111593709;refseq.end_2=111593709;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1647;refseq.mrnaCoord_2=1759;refseq.name2_1=BCO2;refseq.name2_2=BCO2;refseq.name_1=NM_001037290;refseq.name_2=NM_031938;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I514L;refseq.proteinCoordStr_2=p.I548L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=111593709;refseq.start_2=111593709;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr11 112699378 . A C 243.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=13.97;MQ=98.82;MQ0=0;OQ=6164.62;QD=18.24;RankSumP=0.0374571;SB=-951.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.217A>C;refseq.codonCoord=73;refseq.end=112699378;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=322;refseq.name=NM_017868;refseq.name2=TTC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.M73L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=112699378;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr11 112788687 . A G 135.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=98.62;MQ0=0;OQ=1480.80;QD=13.46;RankSumP=0.0804359;SB=-253.44;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.939T>C;refseq.codingCoordStr_2=c.852T>C;refseq.codonCoord_1=313;refseq.codonCoord_2=284;refseq.end_1=112788687;refseq.end_2=112788687;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1174;refseq.mrnaCoord_2=1087;refseq.name2_1=DRD2;refseq.name2_2=DRD2;refseq.name_1=NM_000795;refseq.name_2=NM_016574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H313H;refseq.proteinCoordStr_2=p.H284H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=129;refseq.spliceDist_2=129;refseq.start_1=112788687;refseq.start_2=112788687;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr11 113175262 . T A 213.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=13.03;MQ=98.38;MQ0=0;OQ=10524.45;QD=35.68;RankSumP=1.00000;SB=-4125.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3144A>T;refseq.codonCoord=1048;refseq.end=113175262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3177;refseq.name=NM_020886;refseq.name2=USP28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1048T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=86;refseq.start=113175262;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr11 113184329 . C T 362 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.42;MQ0=0;OQ=8151.26;QD=41.59;RankSumP=1.00000;SB=-4053.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2205G>A;refseq.codonCoord=735;refseq.end=113184329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2238;refseq.name=NM_020886;refseq.name2=USP28;refseq.positionType=CDS;refseq.proteinCoordStr=p.S735S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=41;refseq.start=113184329;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr11 113308238 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=695;Dels=0.00;HRun=3;HaplotypeScore=7.75;MQ=98.89;MQ0=0;OQ=12641.95;QD=18.19;RankSumP=0.294223;SB=-4573.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.386A>C;refseq.codonCoord=129;refseq.end=113308238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_006028;refseq.name2=HTR3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y129S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=18;refseq.start=113308238;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr11 113321963 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1220T>G;refseq.codonCoord=407;refseq.end=113321963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_006028;refseq.name2=HTR3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V407G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=130;refseq.start=113321963;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 113355211 . T G 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.0116655;SecondBestBaseQ=12;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.282+2;refseq.codingCoordStr_2=c.219+2;refseq.codingCoordStr_3=c.282+2;refseq.end_1=113355211;refseq.end_2=113355211;refseq.end_3=113355211;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=HTR3A;refseq.name2_2=HTR3A;refseq.name2_3=HTR3A;refseq.name_1=NM_000869;refseq.name_2=NM_001161772;refseq.name_3=NM_213621;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=113355211;refseq.start_2=113355211;refseq.start_3=113355211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=soap GT 1/0 chr11 113365635 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=422;Dels=0.00;HRun=1;HaplotypeScore=17.08;MQ=98.70;MQ0=0;OQ=6348.32;QD=15.04;RankSumP=0.0741174;SB=-1745.20;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1395A>G;refseq.codingCoordStr_2=c.1332A>G;refseq.codingCoordStr_3=c.1491A>G;refseq.codonCoord_1=465;refseq.codonCoord_2=444;refseq.codonCoord_3=497;refseq.end_1=113365635;refseq.end_2=113365635;refseq.end_3=113365635;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1628;refseq.mrnaCoord_2=1387;refseq.mrnaCoord_3=1724;refseq.name2_1=HTR3A;refseq.name2_2=HTR3A;refseq.name2_3=HTR3A;refseq.name_1=NM_000869;refseq.name_2=NM_001161772;refseq.name_3=NM_213621;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L465L;refseq.proteinCoordStr_2=p.L444L;refseq.proteinCoordStr_3=p.L497L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=239;refseq.spliceDist_2=239;refseq.spliceDist_3=239;refseq.start_1=113365635;refseq.start_2=113365635;refseq.start_3=113365635;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr11 113898141 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.977G>C;refseq.codonCoord=326;refseq.end=113898141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_152315;refseq.name2=FAM55A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S326T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=295;refseq.start=113898141;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 113898862 . C T 385.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5909.34;QD=44.43;RankSumP=1.00000;SB=-2481.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.631G>A;refseq.codonCoord=211;refseq.end=113898862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1048;refseq.name=NM_152315;refseq.name2=FAM55A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G211R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-52;refseq.start=113898862;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr11 113947153 . G A 364.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=98.42;MQ0=0;OQ=11403.07;QD=39.46;RankSumP=1.00000;SB=-3822.76;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1352C>T;refseq.codingCoordStr_2=c.500C>T;refseq.codonCoord_1=451;refseq.codonCoord_2=167;refseq.end_1=113947153;refseq.end_2=113947153;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1533;refseq.mrnaCoord_2=1069;refseq.name2_1=FAM55D;refseq.name2_2=FAM55D;refseq.name_1=NM_001077639;refseq.name_2=NM_017678;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A451V;refseq.proteinCoordStr_2=p.A167V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=253;refseq.spliceDist_2=253;refseq.start_1=113947153;refseq.start_2=113947153;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr11 113947313 . A G 374.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.85;MQ0=0;OQ=5922.32;QD=40.56;RankSumP=1.00000;SB=-2916.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1192T>C;refseq.codingCoordStr_2=c.340T>C;refseq.codonCoord_1=398;refseq.codonCoord_2=114;refseq.end_1=113947313;refseq.end_2=113947313;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1373;refseq.mrnaCoord_2=909;refseq.name2_1=FAM55D;refseq.name2_2=FAM55D;refseq.name_1=NM_001077639;refseq.name_2=NM_017678;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y398H;refseq.proteinCoordStr_2=p.Y114H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=113947313;refseq.start_2=113947313;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr11 114590677 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=812;Dels=0.00;HRun=1;HaplotypeScore=27.12;MQ=98.81;MQ0=0;OQ=15500.50;QD=19.09;RankSumP=0.161373;SB=-6113.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.855T>G;refseq.codingCoordStr_2=c.855T>G;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=114590677;refseq.end_2=114590677;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=984;refseq.mrnaCoord_2=984;refseq.name2_1=CADM1;refseq.name2_2=CADM1;refseq.name_1=NM_001098517;refseq.name_2=NM_014333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D285E;refseq.proteinCoordStr_2=p.D285E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=114590677;refseq.start_2=114590677;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr11 116139035 . C T 119.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.74;MQ0=0;OQ=926.60;QD=12.87;RankSumP=0.376786;SB=-338.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.480G>A;refseq.codingCoordStr_2=c.480G>A;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.end_1=116139035;refseq.end_2=116139035;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=514;refseq.mrnaCoord_2=514;refseq.name2_1=BUD13;refseq.name2_2=BUD13;refseq.name_1=NM_001159736;refseq.name_2=NM_032725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P160P;refseq.proteinCoordStr_2=p.P160P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-155;refseq.spliceDist_2=158;refseq.start_1=116139035;refseq.start_2=116139035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr11 116196844 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00584947;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1140G>T;refseq.codonCoord=380;refseq.end=116196844;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1244;refseq.name=NM_000482;refseq.name2=APOA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q380H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-217;refseq.start=116196844;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/0 chr11 116474147 . G T 39.54 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=41;Dels=0.00;HRun=1;HaplotypeScore=8.25;MQ=95.85;MQ0=0;QD=0.96;RankSumP=0.000670308;SB=20.09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.21C>A;refseq.codonCoord=7;refseq.end=116474147;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_025164;refseq.name2=SIK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y7*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=57;refseq.start=116474147;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr11 116579031 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=69;Dels=0.00;HRun=2;HaplotypeScore=15.44;MQ=97.04;MQ0=0;OQ=109.82;QD=1.59;RankSumP=8.66674e-09;SB=50.19;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.92T>G;refseq.codingCoordStr_2=c.92T>G;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=116579031;refseq.end_2=116579031;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=610;refseq.mrnaCoord_2=213;refseq.name2_1=TAGLN;refseq.name2_2=TAGLN;refseq.name_1=NM_001001522;refseq.name_2=NM_003186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V31G;refseq.proteinCoordStr_2=p.V31G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=116579031;refseq.start_2=116579031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr11 116582175 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2106A>C;refseq.codonCoord=702;refseq.end=116582175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2307;refseq.name=NM_004716;refseq.name2=PCSK7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G702G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=108;refseq.start=116582175;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 116665557 . A G 93.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=408;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=98.21;MQ0=0;OQ=12501.57;QD=30.64;RankSumP=1.00000;SB=-4626.83;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1441T>C;refseq.codingCoordStr_2=c.1309T>C;refseq.codingCoordStr_3=c.1366T>C;refseq.codingCoordStr_4=c.1234T>C;refseq.codonCoord_1=481;refseq.codonCoord_2=437;refseq.codonCoord_3=456;refseq.codonCoord_4=412;refseq.end_1=116665557;refseq.end_2=116665557;refseq.end_3=116665557;refseq.end_4=116665557;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1902;refseq.mrnaCoord_2=1770;refseq.mrnaCoord_3=1827;refseq.mrnaCoord_4=1695;refseq.name2_1=BACE1;refseq.name2_2=BACE1;refseq.name2_3=BACE1;refseq.name2_4=BACE1;refseq.name_1=NM_012104;refseq.name_2=NM_138971;refseq.name_3=NM_138972;refseq.name_4=NM_138973;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C481R;refseq.proteinCoordStr_2=p.C437R;refseq.proteinCoordStr_3=p.C456R;refseq.proteinCoordStr_4=p.C412R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.spliceDist_3=177;refseq.spliceDist_4=177;refseq.start_1=116665557;refseq.start_2=116665557;refseq.start_3=116665557;refseq.start_4=116665557;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/1 chr11 116669034 . C G 277.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.87;MQ0=0;OQ=5080.72;QD=22.89;RankSumP=0.184211;SB=-2090.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.786G>C;refseq.codingCoordStr_2=c.654G>C;refseq.codingCoordStr_3=c.711G>C;refseq.codingCoordStr_4=c.579G>C;refseq.codonCoord_1=262;refseq.codonCoord_2=218;refseq.codonCoord_3=237;refseq.codonCoord_4=193;refseq.end_1=116669034;refseq.end_2=116669034;refseq.end_3=116669034;refseq.end_4=116669034;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1247;refseq.mrnaCoord_2=1115;refseq.mrnaCoord_3=1172;refseq.mrnaCoord_4=1040;refseq.name2_1=BACE1;refseq.name2_2=BACE1;refseq.name2_3=BACE1;refseq.name2_4=BACE1;refseq.name_1=NM_012104;refseq.name_2=NM_138971;refseq.name_3=NM_138972;refseq.name_4=NM_138973;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V262V;refseq.proteinCoordStr_2=p.V218V;refseq.proteinCoordStr_3=p.V237V;refseq.proteinCoordStr_4=p.V193V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.start_1=116669034;refseq.start_2=116669034;refseq.start_3=116669034;refseq.start_4=116669034;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 1/0 chr11 116757699 . T C 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=597.56;QD=31.45;RankSumP=1.00000;SB=-270.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1482T>C;refseq.codonCoord=494;refseq.end=116757699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1629;refseq.name=NM_014956;refseq.name2=CEP164;refseq.positionType=CDS;refseq.proteinCoordStr=p.P494P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=73;refseq.start=116757699;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 116771522 . C G 279.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.32;MQ0=0;OQ=9831.72;QD=44.89;RankSumP=1.00000;SB=-4404.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2963C>G;refseq.codonCoord=988;refseq.end=116771522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3110;refseq.name=NM_014956;refseq.name2=CEP164;refseq.positionType=CDS;refseq.proteinCoordStr=p.T988S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=50;refseq.start=116771522;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr11 116773094 . A G 175.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.96;MQ0=0;OQ=2463.15;QD=34.21;RankSumP=1.00000;SB=-1127.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3356A>G;refseq.codonCoord=1119;refseq.end=116773094;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3503;refseq.name=NM_014956;refseq.name2=CEP164;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1119R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=78;refseq.start=116773094;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 116788010 . G T 153.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=379;Dels=0.00;HRun=1;HaplotypeScore=9.77;MQ=98.78;MQ0=0;OQ=13528.77;QD=35.70;RankSumP=1.00000;SB=-3726.33;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4299G>T;refseq.codonCoord=1433;refseq.end=116788010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4446;refseq.name=NM_014956;refseq.name2=CEP164;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1433S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=13;refseq.start=116788010;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr11 116814005 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=9.74;MQ=98.89;MQ0=0;OQ=2255.07;QD=13.83;RankSumP=0.281174;SB=-951.22;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4428C>T;refseq.codonCoord=1476;refseq.end=116814005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4430;refseq.name=NM_020693;refseq.name2=DSCAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1476F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=116814005;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr11 116815199 . C T 238.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=587;Dels=0.00;HRun=0;HaplotypeScore=14.10;MQ=98.79;MQ0=0;OQ=9339.80;QD=15.91;RankSumP=0.351175;SB=-2833.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4317G>A;refseq.codonCoord=1439;refseq.end=116815199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4319;refseq.name=NM_020693;refseq.name2=DSCAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1439L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=116815199;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr11 116815232 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=621;Dels=0.00;HRun=1;HaplotypeScore=28.13;MQ=98.68;MQ0=0;OQ=8435.05;QD=13.58;RankSumP=0.00769514;SB=-3323.48;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4284T>C;refseq.codonCoord=1428;refseq.end=116815232;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4286;refseq.name=NM_020693;refseq.name2=DSCAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1428T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-41;refseq.start=116815232;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr11 116840932 . T C 259.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=5.82;MQ=98.70;MQ0=0;OQ=13186.82;QD=37.89;RankSumP=1.00000;SB=-5005.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3381A>G;refseq.codonCoord=1127;refseq.end=116840932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3383;refseq.name=NM_020693;refseq.name2=DSCAML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1127Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-65;refseq.start=116840932;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr11 117286645 . A G 302.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=3754.71;QD=42.19;RankSumP=1.00000;SB=-1784.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.933T>C;refseq.codonCoord=311;refseq.end=117286645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1026;refseq.name=NM_001077263;refseq.name2=TMPRSS13;refseq.positionType=CDS;refseq.proteinCoordStr=p.S311S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-14;refseq.start=117286645;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr11 117294552 . T C 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.221069;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.233A>G;refseq.codonCoord=78;refseq.end=117294552;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_001077263;refseq.name2=TMPRSS13;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q78R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=212;refseq.start=117294552;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr11 117294555 . G C 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0179446;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.230C>G;refseq.codonCoord=77;refseq.end=117294555;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_001077263;refseq.name2=TMPRSS13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A77G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=209;refseq.start=117294555;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 117369273 . A G 160.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=10.98;MQ=98.62;MQ0=0;OQ=5272.43;QD=19.10;RankSumP=0.469155;SB=-2094.48;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.475A>G;refseq.codonCoord_2=159;refseq.end_1=117369273;refseq.end_2=117369273;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=552;refseq.name2_1=IL10RA;refseq.name2_2=IL10RA;refseq.name_1=NR_026691;refseq.name_2=NM_001558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S159G;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=117369273;refseq.start_2=117369273;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr11 117369323 . G A 288.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=98.46;MQ0=0;OQ=6965.05;QD=22.18;RankSumP=0.354178;SB=-3013.83;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.525G>A;refseq.codonCoord_2=175;refseq.end_1=117369323;refseq.end_2=117369323;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=602;refseq.name2_1=IL10RA;refseq.name2_2=IL10RA;refseq.name_1=NR_026691;refseq.name_2=NM_001558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P175P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=117369323;refseq.start_2=117369323;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr11 117370056 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=5.66;MQ=98.90;MQ0=0;OQ=1342.56;QD=9.39;RankSumP=0.332087;SB=-579.74;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.670A>G;refseq.codonCoord_2=224;refseq.end_1=117370056;refseq.end_2=117370056;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=877;refseq.mrnaCoord_2=747;refseq.name2_1=IL10RA;refseq.name2_2=IL10RA;refseq.name_1=NR_026691;refseq.name_2=NM_001558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I224V;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=117370056;refseq.start_2=117370056;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 117374880 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=85;Dels=0.00;HRun=3;HaplotypeScore=1.86;MQ=98.77;MQ0=0;OQ=1256.68;QD=14.78;RankSumP=0.110014;SB=-200.67;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_2=c.1051A>G;refseq.codonCoord_2=351;refseq.end_1=117374880;refseq.end_2=117374880;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1258;refseq.mrnaCoord_2=1128;refseq.name2_1=IL10RA;refseq.name2_2=IL10RA;refseq.name_1=NR_026691;refseq.name_2=NM_001558;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R351G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=241;refseq.spliceDist_2=241;refseq.start_1=117374880;refseq.start_2=117374880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr11 117487705 . T G 93.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=2;HaplotypeScore=8.32;MQ=98.81;MQ0=0;OQ=6477.18;QD=37.88;RankSumP=1.00000;SB=-2067.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.608T>G;refseq.codingCoordStr_2=c.617T>G;refseq.codingCoordStr_3=c.503T>G;refseq.codingCoordStr_4=c.623T>G;refseq.codonCoord_1=203;refseq.codonCoord_2=206;refseq.codonCoord_3=168;refseq.codonCoord_4=208;refseq.end_1=117487705;refseq.end_2=117487705;refseq.end_3=117487705;refseq.end_4=117487705;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=899;refseq.mrnaCoord_2=908;refseq.mrnaCoord_3=794;refseq.mrnaCoord_4=914;refseq.name2_1=TMPRSS4;refseq.name2_2=TMPRSS4;refseq.name2_3=TMPRSS4;refseq.name2_4=TMPRSS4;refseq.name_1=NM_001083947;refseq.name_2=NM_001173551;refseq.name_3=NM_001173552;refseq.name_4=NM_019894;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V203G;refseq.proteinCoordStr_2=p.V206G;refseq.proteinCoordStr_3=p.V168G;refseq.proteinCoordStr_4=p.V208G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.start_1=117487705;refseq.start_2=117487705;refseq.start_3=117487705;refseq.start_4=117487705;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=Intersection GT 1/1 chr11 117493292 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=17.12;MQ=98.73;MQ0=0;OQ=10893.49;QD=37.69;RankSumP=1.00000;SB=-4498.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1200T>C;refseq.codingCoordStr_2=c.1209T>C;refseq.codingCoordStr_3=c.1095T>C;refseq.codingCoordStr_4=c.1215T>C;refseq.codonCoord_1=400;refseq.codonCoord_2=403;refseq.codonCoord_3=365;refseq.codonCoord_4=405;refseq.end_1=117493292;refseq.end_2=117493292;refseq.end_3=117493292;refseq.end_4=117493292;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1491;refseq.mrnaCoord_2=1500;refseq.mrnaCoord_3=1386;refseq.mrnaCoord_4=1506;refseq.name2_1=TMPRSS4;refseq.name2_2=TMPRSS4;refseq.name2_3=TMPRSS4;refseq.name2_4=TMPRSS4;refseq.name_1=NM_001083947;refseq.name_2=NM_001173551;refseq.name_3=NM_001173552;refseq.name_4=NM_019894;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S400S;refseq.proteinCoordStr_2=p.S403S;refseq.proteinCoordStr_3=p.S365S;refseq.proteinCoordStr_4=p.S405S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.spliceDist_3=63;refseq.spliceDist_4=63;refseq.start_1=117493292;refseq.start_2=117493292;refseq.start_3=117493292;refseq.start_4=117493292;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/1 chr11 117573953 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.975A>C;refseq.codingCoordStr_2=c.945A>C;refseq.codonCoord_1=325;refseq.codonCoord_2=315;refseq.end_1=117573953;refseq.end_2=117573953;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1149;refseq.mrnaCoord_2=1387;refseq.name2_1=AMICA1;refseq.name2_2=AMICA1;refseq.name_1=NM_001098526;refseq.name_2=NM_153206;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K325N;refseq.proteinCoordStr_2=p.K315N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=117573953;refseq.start_2=117573953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr11 117579547 . A G 421.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=7250.71;QD=38.98;RankSumP=1.00000;SB=-2339.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.578T>C;refseq.codingCoordStr_2=c.548T>C;refseq.codonCoord_1=193;refseq.codonCoord_2=183;refseq.end_1=117579547;refseq.end_2=117579547;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=990;refseq.name2_1=AMICA1;refseq.name2_2=AMICA1;refseq.name_1=NM_001098526;refseq.name_2=NM_153206;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V193A;refseq.proteinCoordStr_2=p.V183A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=117579547;refseq.start_2=117579547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr11 117586555 . A T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=638;Dels=0.00;HRun=1;HaplotypeScore=13.88;MQ=98.74;MQ0=0;OQ=25381.10;QD=39.78;RankSumP=1.00000;SB=-11591.99;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.281T>A;refseq.codingCoordStr_2=c.251T>A;refseq.codonCoord_1=94;refseq.codonCoord_2=84;refseq.end_1=117586555;refseq.end_2=117586555;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=455;refseq.mrnaCoord_2=693;refseq.name2_1=AMICA1;refseq.name2_2=AMICA1;refseq.name_1=NM_001098526;refseq.name_2=NM_153206;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I94N;refseq.proteinCoordStr_2=p.I84N;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=117586555;refseq.start_2=117586555;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr11 117613015 . A G 129.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=98.70;MQ0=0;OQ=15393.13;QD=41.05;RankSumP=1.00000;SB=-7134.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.411T>C;refseq.codonCoord=137;refseq.end=117613015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_198275;refseq.name2=MPZL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H137H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-41;refseq.start=117613015;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 117616187 . T C 195.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=655;Dels=0.00;HRun=0;HaplotypeScore=11.43;MQ=98.74;MQ0=0;OQ=23520.06;QD=35.91;RankSumP=1.00000;SB=-7015.48;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.189A>G;refseq.codonCoord=63;refseq.end=117616187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_198275;refseq.name2=MPZL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K63K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-52;refseq.start=117616187;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 117760872 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=5.92099e-08;SecondBestBaseQ=11;refseq.chr=chr11;refseq.codingCoordStr=c.2433+2;refseq.end=117760872;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_004788;refseq.name2=UBE4A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=117760872;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr11 117870249 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5206G>C;refseq.codonCoord=1736;refseq.end=117870249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5229;refseq.name=NM_005933;refseq.name2=MLL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1736P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=37;refseq.start=117870249;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr11 117871702 . A C 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.93423e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5432A>C;refseq.codonCoord=1811;refseq.end=117871702;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5455;refseq.name=NM_005933;refseq.name2=MLL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1811T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=78;refseq.start=117871702;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 117880017 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.8191A>C;refseq.codonCoord=2731;refseq.end=117880017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8214;refseq.name=NM_005933;refseq.name2=MLL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2731P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1695;refseq.start=117880017;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr11 117881457 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.9631G>T;refseq.codonCoord=3211;refseq.end=117881457;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9654;refseq.name=NM_005933;refseq.name2=MLL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3211L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-1115;refseq.start=117881457;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr11 117909396 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_5=c.725C>G;refseq.codingCoordStr_6=c.725C>G;refseq.codonCoord_5=242;refseq.codonCoord_6=242;refseq.end_1=117909771;refseq.end_2=117909771;refseq.end_3=117909771;refseq.end_4=117909771;refseq.end_5=117909396;refseq.end_6=117909396;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=899;refseq.mrnaCoord_6=899;refseq.name2_1=TMEM25;refseq.name2_2=TMEM25;refseq.name2_3=TMEM25;refseq.name2_4=TMEM25;refseq.name2_5=TMEM25;refseq.name2_6=TMEM25;refseq.name_1=NM_001144034;refseq.name_2=NM_001144035;refseq.name_3=NM_001144036;refseq.name_4=NM_001144038;refseq.name_5=NM_001144037;refseq.name_6=NM_032780;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.A242G;refseq.proteinCoordStr_6=p.A242G;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_5=52;refseq.spliceDist_6=52;refseq.start_1=117909143;refseq.start_2=117909143;refseq.start_3=117909143;refseq.start_4=117909143;refseq.start_5=117909396;refseq.start_6=117909396;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;set=FilteredInAll GT 1/0 chr11 117910278 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=97.46;MQ0=0;OQ=591.57;QD=13.44;RankSumP=0.425654;SB=-71.76;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.chr_5=chr11;refseq.chr_6=chr11;refseq.codingCoordStr_1=c.893A>G;refseq.codingCoordStr_2=c.893A>G;refseq.codingCoordStr_3=c.581A>G;refseq.codingCoordStr_4=c.1025A>G;refseq.codingCoordStr_5=c.890A>G;refseq.codingCoordStr_6=c.1025A>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.codonCoord_3=194;refseq.codonCoord_4=342;refseq.codonCoord_5=297;refseq.codonCoord_6=342;refseq.end_1=117910278;refseq.end_2=117910278;refseq.end_3=117910278;refseq.end_4=117910278;refseq.end_5=117910278;refseq.end_6=117910278;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1067;refseq.mrnaCoord_2=1064;refseq.mrnaCoord_3=755;refseq.mrnaCoord_4=1199;refseq.mrnaCoord_5=1064;refseq.mrnaCoord_6=1199;refseq.name2_1=TMEM25;refseq.name2_2=TMEM25;refseq.name2_3=TMEM25;refseq.name2_4=TMEM25;refseq.name2_5=TMEM25;refseq.name2_6=TMEM25;refseq.name_1=NM_001144034;refseq.name_2=NM_001144035;refseq.name_3=NM_001144036;refseq.name_4=NM_001144037;refseq.name_5=NM_001144038;refseq.name_6=NM_032780;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.Q298R;refseq.proteinCoordStr_2=p.Q298R;refseq.proteinCoordStr_3=p.Q194R;refseq.proteinCoordStr_4=p.Q342R;refseq.proteinCoordStr_5=p.Q297R;refseq.proteinCoordStr_6=p.Q342R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.referenceCodon_6=CAA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceDist_4=-3;refseq.spliceDist_5=-3;refseq.spliceDist_6=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.spliceInfo_4=splice-donor_-3;refseq.spliceInfo_5=splice-donor_-3;refseq.spliceInfo_6=splice-donor_-3;refseq.start_1=117910278;refseq.start_2=117910278;refseq.start_3=117910278;refseq.start_4=117910278;refseq.start_5=117910278;refseq.start_6=117910278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;refseq.variantCodon_4=CGA;refseq.variantCodon_5=CGA;refseq.variantCodon_6=CGA;set=Intersection GT 0/1 chr11 117935729 . C T 146.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.48;MQ0=0;OQ=2415.80;QD=12.58;RankSumP=0.335669;SB=-1208.51;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.26G>A;refseq.codingCoordStr_2=c.26G>A;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=117935729;refseq.end_2=117935729;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=445;refseq.mrnaCoord_2=445;refseq.name2_1=C11orf60;refseq.name2_2=C11orf60;refseq.name_1=NM_001168618;refseq.name_2=NM_020153;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C9Y;refseq.proteinCoordStr_2=p.C9Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=117935729;refseq.start_2=117935729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr11 117976633 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=98.45;MQ0=0;OQ=1852.73;QD=16.84;RankSumP=0.353347;SB=-162.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1266T>C;refseq.codingCoordStr_2=c.1530T>C;refseq.codonCoord_1=422;refseq.codonCoord_2=510;refseq.end_1=117976633;refseq.end_2=117976633;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1427;refseq.mrnaCoord_2=1691;refseq.name2_1=ARCN1;refseq.name2_2=ARCN1;refseq.name_1=NM_001142281;refseq.name_2=NM_001655;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I422I;refseq.proteinCoordStr_2=p.I510I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.start_1=117976633;refseq.start_2=117976633;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr11 118004578 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.02175e-05;SecondBestBaseQ=13;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1827+2;refseq.codingCoordStr_2=c.1827+2;refseq.codingCoordStr_3=c.1827+2;refseq.end_1=118004578;refseq.end_2=118004578;refseq.end_3=118004578;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=PHLDB1;refseq.name2_2=PHLDB1;refseq.name2_3=PHLDB1;refseq.name_1=NM_001144758;refseq.name_2=NM_001144759;refseq.name_3=NM_015157;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=118004578;refseq.start_2=118004578;refseq.start_3=118004578;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr11 118259859 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.23;MQ=98.19;MQ0=0;OQ=1287.80;QD=13.85;RankSumP=0.198048;SB=-459.90;SecondBestBaseQ=32;refseq.chr=chr11;refseq.codingCoordStr=c.-2C>G;refseq.end=118259859;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=109;refseq.name=NM_001716;refseq.name2=CXCR5;refseq.positionType=utr5;refseq.spliceDist=-53;refseq.start=118259859;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr11 118274814 . C T 146.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=6.86;MQ=98.54;MQ0=0;OQ=5805.70;QD=20.30;RankSumP=0.267413;SB=-2302.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4020G>A;refseq.codonCoord=1340;refseq.end=118274814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4985;refseq.name=NM_182557;refseq.name2=BCL9L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1340Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=614;refseq.start=118274814;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr11 118278715 . C A 25.46 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=7;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=96.28;MQ0=0;QD=3.64;RankSumP=0.607143;SB=-34.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.947G>T;refseq.codonCoord=316;refseq.end=118278715;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1912;refseq.name=NM_182557;refseq.name2=BCL9L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S316I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=113;refseq.start=118278715;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr11 118374351 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.000234504;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.122T>G;refseq.codonCoord=41;refseq.end=118374351;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_198489;refseq.name2=CCDC84;refseq.positionType=CDS;refseq.proteinCoordStr=p.V41G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=118374351;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 118424416 . T C 384.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3746.74;QD=37.47;RankSumP=1.00000;SB=-1078.80;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2235A>G;refseq.codingCoordStr_2=c.2235A>G;refseq.codonCoord_1=745;refseq.codonCoord_2=745;refseq.end_1=118424416;refseq.end_2=118424416;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2304;refseq.mrnaCoord_2=2428;refseq.name2_1=HYOU1;refseq.name2_2=HYOU1;refseq.name_1=NM_001130991;refseq.name_2=NM_006389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A745A;refseq.proteinCoordStr_2=p.A745A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=118424416;refseq.start_2=118424416;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr11 118430551 . G A 255.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=97.87;MQ0=0;OQ=7306.43;QD=40.15;RankSumP=1.00000;SB=-3454.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.543C>T;refseq.codingCoordStr_2=c.543C>T;refseq.codonCoord_1=181;refseq.codonCoord_2=181;refseq.end_1=118430551;refseq.end_2=118430551;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=612;refseq.mrnaCoord_2=736;refseq.name2_1=HYOU1;refseq.name2_2=HYOU1;refseq.name_1=NM_001130991;refseq.name_2=NM_006389;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N181N;refseq.proteinCoordStr_2=p.N181N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=118430551;refseq.start_2=118430551;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr11 118467440 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.606G>T;refseq.codingCoordStr_2=c.555G>T;refseq.codonCoord_1=202;refseq.codonCoord_2=185;refseq.end_1=118467440;refseq.end_2=118467440;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=763;refseq.mrnaCoord_2=665;refseq.name2_1=HMBS;refseq.name2_2=HMBS;refseq.name_1=NM_000190;refseq.name_2=NM_001024382;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V202V;refseq.proteinCoordStr_2=p.V185V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=118467440;refseq.start_2=118467440;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/1 chr11 118472968 . T C 252.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.96;MQ0=0;OQ=4365.87;QD=16.11;RankSumP=0.138045;SB=-1692.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1177A>G;refseq.codonCoord=393;refseq.end=118472968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_001382;refseq.name2=DPAGT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I393V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=16;refseq.start=118472968;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr11 118483780 . C G 26.93 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=6;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=91.36;MQ0=0;QD=4.49;RankSumP=0.0476190;SB=-3.98;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.119C>G;refseq.codonCoord=40;refseq.end=118483780;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_014807;refseq.name2=C2CD2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A40G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-236;refseq.start=118483780;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 118506672 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.209A>G;refseq.codingCoordStr_2=c.209A>G;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=118506672;refseq.end_2=118506672;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=281;refseq.name2_1=HINFP;refseq.name2_2=HINFP;refseq.name_1=NM_015517;refseq.name_2=NM_198971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E70G;refseq.proteinCoordStr_2=p.E70G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=118506672;refseq.start_2=118506672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr11 118510298 . C T 345.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.94;MQ0=0;OQ=10740.21;QD=41.63;RankSumP=1.00000;SB=-2851.14;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1434C>T;refseq.codingCoordStr_2=c.1434C>T;refseq.codonCoord_1=478;refseq.codonCoord_2=478;refseq.end_1=118510298;refseq.end_2=118510298;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1623;refseq.mrnaCoord_2=1506;refseq.name2_1=HINFP;refseq.name2_2=HINFP;refseq.name_1=NM_015517;refseq.name_2=NM_198971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I478I;refseq.proteinCoordStr_2=p.I478I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=295;refseq.spliceDist_2=295;refseq.start_1=118510298;refseq.start_2=118510298;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr11 118510342 . C T 180.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.79;MQ0=0;OQ=2154.32;QD=20.52;RankSumP=0.143097;SB=-385.90;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1478C>T;refseq.codingCoordStr_2=c.1478C>T;refseq.codonCoord_1=493;refseq.codonCoord_2=493;refseq.end_1=118510342;refseq.end_2=118510342;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1550;refseq.name2_1=HINFP;refseq.name2_2=HINFP;refseq.name_1=NM_015517;refseq.name_2=NM_198971;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A493V;refseq.proteinCoordStr_2=p.A493V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=339;refseq.spliceDist_2=339;refseq.start_1=118510342;refseq.start_2=118510342;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 118548866 . C T 233.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=98.41;MQ0=0;OQ=14661.58;QD=37.89;RankSumP=1.00000;SB=-7323.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.187C>T;refseq.codingCoordStr_2=c.187C>T;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=118548866;refseq.end_2=118548866;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=426;refseq.mrnaCoord_2=426;refseq.name2_1=NLRX1;refseq.name2_2=NLRX1;refseq.name_1=NM_024618;refseq.name_2=NM_170722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P63S;refseq.proteinCoordStr_2=p.P63S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=118548866;refseq.start_2=118548866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr11 118558036 . C A 198.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.87;MQ0=0;OQ=4046.72;QD=31.61;RankSumP=1.00000;SB=-1072.22;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2378C>A;refseq.codingCoordStr_2=c.2378C>A;refseq.codonCoord_1=793;refseq.codonCoord_2=793;refseq.end_1=118558036;refseq.end_2=118558036;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2617;refseq.mrnaCoord_2=2617;refseq.name2_1=NLRX1;refseq.name2_2=NLRX1;refseq.name_1=NM_024618;refseq.name_2=NM_170722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A793E;refseq.proteinCoordStr_2=p.A793E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=118558036;refseq.start_2=118558036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr11 118564346 . T G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00107962;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.935T>G;refseq.codingCoordStr_3=c.893T>G;refseq.codonCoord_2=312;refseq.codonCoord_3=298;refseq.end_1=118564346;refseq.end_2=118564346;refseq.end_3=118564346;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1049;refseq.mrnaCoord_2=973;refseq.mrnaCoord_3=931;refseq.name2_1=PDZD3;refseq.name2_2=PDZD3;refseq.name2_3=PDZD3;refseq.name_1=NR_033122;refseq.name_2=NM_001168468;refseq.name_3=NM_024791;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V312G;refseq.proteinCoordStr_3=p.V298G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.start_1=118564346;refseq.start_2=118564346;refseq.start_3=118564346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 118564614 . G A 117.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=10.93;MQ=98.45;MQ0=0;OQ=6891.08;QD=31.18;RankSumP=1.00000;SB=-2939.46;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.1115G>A;refseq.codingCoordStr_3=c.1073G>A;refseq.codonCoord_2=372;refseq.codonCoord_3=358;refseq.end_1=118564614;refseq.end_2=118564614;refseq.end_3=118564614;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1229;refseq.mrnaCoord_2=1153;refseq.mrnaCoord_3=1111;refseq.name2_1=PDZD3;refseq.name2_2=PDZD3;refseq.name2_3=PDZD3;refseq.name_1=NR_033122;refseq.name_2=NM_001168468;refseq.name_3=NM_024791;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R372Q;refseq.proteinCoordStr_3=p.R358Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=118564614;refseq.start_2=118564614;refseq.start_3=118564614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr11 118566237 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.615A>C;refseq.codonCoord=205;refseq.end=118566237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_001145018;refseq.name2=CCDC153;refseq.positionType=CDS;refseq.proteinCoordStr=p.P205P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-64;refseq.start=118566237;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr11 118569118 . C T 423.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.52;MQ0=0;OQ=5529.21;QD=39.21;RankSumP=1.00000;SB=-2129.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.302G>A;refseq.codonCoord=101;refseq.end=118569118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_001145018;refseq.name2=CCDC153;refseq.positionType=CDS;refseq.proteinCoordStr=p.R101H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=46;refseq.start=118569118;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 118690887 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=5.80;MQ=98.58;MQ0=0;OQ=1229.60;QD=13.97;RankSumP=0.0355040;SB=-403.20;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.266A>G;refseq.codonCoord=89;refseq.end=118690887;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_006500;refseq.name2=MCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.E89G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=74;refseq.start=118690887;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr11 118715724 . C T 48.14 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=16.05;RankSumP=0.333333;SB=-50.56;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.259G>A;refseq.codingCoordStr_2=c.*1155G>A;refseq.codonCoord_1=87;refseq.end_1=118715724;refseq.end_2=118715724;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3055;refseq.mrnaCoord_2=3055;refseq.name2_1=C1QTNF5;refseq.name2_2=MFRP;refseq.name_1=NM_015645;refseq.name_2=NM_031433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.G87R;refseq.referenceAA_1=Gly;refseq.referenceCodon_1=GGA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=118715724;refseq.start_2=118715724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantCodon_1=AGA;set=FilteredInAll GT 0/1 chr11 118721441 . A G 373.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=2986.56;QD=37.80;RankSumP=1.00000;SB=-809.16;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.-2097T>C;refseq.codingCoordStr_2=c.540T>C;refseq.codonCoord_2=180;refseq.end_1=118721441;refseq.end_2=118721441;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=700;refseq.mrnaCoord_2=700;refseq.name2_1=C1QTNF5;refseq.name2_2=MFRP;refseq.name_1=NM_015645;refseq.name_2=NM_031433;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H180H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.start_1=118721441;refseq.start_2=118721441;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.uorfChange_1=-1;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr11 118721714 . C T 326.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=11.42;MQ=98.48;MQ0=0;OQ=5855.71;QD=17.17;RankSumP=0.326095;SB=-2334.19;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.-2231G>A;refseq.codingCoordStr_2=c.406G>A;refseq.codonCoord_2=136;refseq.end_1=118721714;refseq.end_2=118721714;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=566;refseq.name2_1=C1QTNF5;refseq.name2_2=MFRP;refseq.name_1=NM_015645;refseq.name_2=NM_031433;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V136M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=118721714;refseq.start_2=118721714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.uorfChange_1=+1;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr11 118735174 . G A 446.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=6634.14;QD=41.46;RankSumP=1.00000;SB=-2357.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1038C>T;refseq.codingCoordStr_2=c.411C>T;refseq.codonCoord_1=346;refseq.codonCoord_2=137;refseq.end_1=118735174;refseq.end_2=118735174;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1333;refseq.mrnaCoord_2=598;refseq.name2_1=USP2;refseq.name2_2=USP2;refseq.name_1=NM_004205;refseq.name_2=NM_171997;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y346Y;refseq.proteinCoordStr_2=p.Y137Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=118735174;refseq.start_2=118735174;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr11 118749305 . C T 203.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=9.25;MQ=99.00;MQ0=0;OQ=882.67;QD=18.01;RankSumP=0.265709;SB=-195.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=118749305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=391;refseq.name=NM_004205;refseq.name2=USP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P32P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=137;refseq.start=118749305;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 119015854 . A C 299.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.78;MQ0=0;OQ=5505.39;QD=37.20;RankSumP=1.00000;SB=-1559.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1082T>G;refseq.codonCoord=361;refseq.end=119015854;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1254;refseq.name=NM_203285;refseq.name2=PVRL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V361G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-70;refseq.start=119015854;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr11 119504401 . A G 460.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.52;MQ0=0;OQ=6024.33;QD=39.12;RankSumP=1.00000;SB=-1758.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.817T>C;refseq.codonCoord=273;refseq.end=119504401;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_012101;refseq.name2=TRIM29;refseq.positionType=CDS;refseq.proteinCoordStr=p.L273L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=13;refseq.start=119504401;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 119602760 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.392C>G;refseq.codonCoord=131;refseq.end=119602760;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_178507;refseq.name2=OAF;refseq.positionType=CDS;refseq.proteinCoordStr=p.A131G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=26;refseq.start=119602760;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 119604868 . A G 153.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=16;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=12.72;MQ=95.94;MQ0=0;OQ=1425.51;QD=15.84;RankSumP=1.00000;SB=-525.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.629A>G;refseq.codonCoord=210;refseq.end=119604868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_178507;refseq.name2=OAF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H210R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=82;refseq.start=119604868;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 119604889 . G A 90.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=7.16;MQ=95.74;MQ0=0;OQ=2044.50;QD=27.63;RankSumP=1.00000;SB=-919.27;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.650G>A;refseq.codonCoord=217;refseq.end=119604889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_178507;refseq.name2=OAF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R217H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=103;refseq.start=119604889;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 119674255 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.204A>C;refseq.codonCoord=68;refseq.end=119674255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_014352;refseq.name2=POU2F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G68G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-55;refseq.start=119674255;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 119680959 . A G 186.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=8.43;MQ=98.40;MQ0=0;OQ=6937.94;QD=33.20;RankSumP=1.00000;SB=-2024.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.455A>G;refseq.codonCoord=152;refseq.end=119680959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_014352;refseq.name2=POU2F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H152R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=11;refseq.start=119680959;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 119834068 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=2;HaplotypeScore=26.11;MQ=98.37;MQ0=0;OQ=7943.41;QD=19.57;RankSumP=5.17991e-05;SB=-2462.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2295T>C;refseq.codonCoord=765;refseq.end=119834068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_015313;refseq.name2=ARHGEF12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D765D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=70;refseq.start=119834068;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/0 chr11 120281211 . G A 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.23;MQ0=0;OQ=1234.91;QD=38.59;RankSumP=1.00000;SB=-465.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1275G>A;refseq.codonCoord=425;refseq.end=120281211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1275;refseq.name=NM_014619;refseq.name2=GRIK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E425E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=120281211;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr11 120332782 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1784A>C;refseq.codonCoord=595;refseq.end=120332782;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1784;refseq.name=NM_014619;refseq.name2=GRIK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N595T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=84;refseq.start=120332782;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 120332819 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=2;HaplotypeScore=2.97;MQ=97.71;MQ0=0;OQ=1584.93;QD=13.55;RankSumP=0.155010;SB=-380.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1821A>G;refseq.codonCoord=607;refseq.end=120332819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1821;refseq.name=NM_014619;refseq.name2=GRIK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q607Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-54;refseq.start=120332819;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr11 120513358 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2960A>C;refseq.codonCoord=987;refseq.end=120513358;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2960;refseq.name=NM_005422;refseq.name2=TECTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N987T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=120513358;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 120528818 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4124A>C;refseq.codonCoord=1375;refseq.end=120528818;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4124;refseq.name=NM_005422;refseq.name2=TECTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1375T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=120528818;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 120528887 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4193G>C;refseq.codonCoord=1398;refseq.end=120528887;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4193;refseq.name=NM_005422;refseq.name2=TECTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1398S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=88;refseq.start=120528887;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr11 120533791 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=188;Dels=0.00;HRun=1;HaplotypeScore=12.85;MQ=98.19;MQ0=0;OQ=2216.94;QD=11.79;RankSumP=0.193467;SB=-602.85;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.4337C>G;refseq.codonCoord=1446;refseq.end=120533791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4337;refseq.name=NM_005422;refseq.name2=TECTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1446R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=32;refseq.start=120533791;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr11 120538188 . G A 333.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=5.44;MQ=98.00;MQ0=0;OQ=8908.78;QD=38.90;RankSumP=1.00000;SB=-3433.50;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5171G>A;refseq.codonCoord=1724;refseq.end=120538188;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5171;refseq.name=NM_005422;refseq.name2=TECTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1724N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-102;refseq.start=120538188;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr11 120872836 . T C 344.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=98.63;MQ0=0;OQ=10007.91;QD=37.62;RankSumP=1.00000;SB=-4012.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.807T>C;refseq.codonCoord=269;refseq.end=120872836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H269H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=49;refseq.start=120872836;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 120908439 . T C 260.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=98.74;MQ0=0;OQ=13765.20;QD=42.35;RankSumP=1.00000;SB=-4987.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1653T>C;refseq.codonCoord=551;refseq.end=120908439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1733;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A551A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-33;refseq.start=120908439;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr11 120943029 . C G 185.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=98.91;MQ0=0;OQ=13688.46;QD=46.56;RankSumP=1.00000;SB=-4588.29;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3220C>G;refseq.codonCoord=1074;refseq.end=120943029;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1074E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=120943029;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr11 120953300 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=664;Dels=0.00;HRun=1;HaplotypeScore=9.20;MQ=98.87;MQ0=0;OQ=10388.31;QD=15.65;RankSumP=0.339024;SB=-3186.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3561T>G;refseq.codonCoord=1187;refseq.end=120953300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3641;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1187S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-20;refseq.start=120953300;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr11 120962172 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=889;Dels=0.00;HRun=0;HaplotypeScore=19.01;MQ=98.89;MQ0=0;OQ=17347.72;QD=19.51;RankSumP=0.461808;SB=-5185.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3738C>T;refseq.codonCoord=1246;refseq.end=120962172;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3818;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1246N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=32;refseq.start=120962172;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 120981132 . T A 364.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.87;MQ0=0;OQ=8072.31;QD=19.74;RankSumP=0.444242;SB=-2319.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.4752T>A;refseq.codonCoord=1584;refseq.end=120981132;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4832;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1584A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-27;refseq.start=120981132;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr11 120996992 . G A 286.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=10188.56;QD=43.73;RankSumP=1.00000;SB=-3233.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.5899G>A;refseq.codonCoord=1967;refseq.end=120996992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5979;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1967I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=120996992;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr11 121003630 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.6521A>C;refseq.codonCoord=2174;refseq.end=121003630;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6601;refseq.name=NM_003105;refseq.name2=SORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2174T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-57;refseq.start=121003630;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr11 122165128 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=3;HaplotypeScore=5.39;MQ=98.41;MQ0=0;OQ=1363.25;QD=17.04;RankSumP=0.237143;SB=-625.39;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.882T>G;refseq.codonCoord=294;refseq.end=122165128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_032873;refseq.name2=UBASH3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G294G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-99;refseq.start=122165128;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr11 122170647 . A G 113.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=6.46;MQ=98.33;MQ0=0;OQ=2687.20;QD=11.79;RankSumP=0.344638;SB=-1164.43;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1008A>G;refseq.codonCoord=336;refseq.end=122170647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_032873;refseq.name2=UBASH3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S336S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=28;refseq.start=122170647;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr11 122243471 . A G 271.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=9.32;MQ=98.87;MQ0=0;OQ=9299.12;QD=41.51;RankSumP=1.00000;SB=-4011.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.962A>G;refseq.codonCoord=321;refseq.end=122243471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_019604;refseq.name2=CRTAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.K321R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=122243471;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr11 122300898 . T C 321.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=4170.75;QD=20.65;RankSumP=0.208234;SB=-1249.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.948T>C;refseq.codonCoord=316;refseq.end=122300898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_024806;refseq.name2=C11orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.D316D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-31;refseq.start=122300898;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr11 122435945 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.566T>G;refseq.codingCoordStr_2=c.566T>G;refseq.codonCoord_1=189;refseq.codonCoord_2=189;refseq.end_1=122435945;refseq.end_2=122435945;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=644;refseq.mrnaCoord_2=644;refseq.name2_1=HSPA8;refseq.name2_2=HSPA8;refseq.name_1=NM_006597;refseq.name_2=NM_153201;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V189G;refseq.proteinCoordStr_2=p.V189G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=122435945;refseq.start_2=122435945;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr11 122450709 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.732A>G;refseq.codonCoord=244;refseq.end=122450709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1091;refseq.name=NM_024769;refseq.name2=ASAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.G244G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=53;refseq.start=122450709;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 123014168 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.520C>G;refseq.codingCoordStr_2=c.520C>G;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.end_1=123014168;refseq.end_2=123014168;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=1326;refseq.name2_1=SCN3B;refseq.name2_2=SCN3B;refseq.name_1=NM_001040151;refseq.name_2=NM_018400;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L174V;refseq.proteinCoordStr_2=p.L174V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=123014168;refseq.start_2=123014168;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr11 123104151 . T C 196.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=98.76;MQ0=0;OQ=15897.86;QD=41.08;RankSumP=1.00000;SB=-7443.43;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.732A>G;refseq.codonCoord=244;refseq.end=123104151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_003455;refseq.name2=ZNF202;refseq.positionType=CDS;refseq.proteinCoordStr=p.V244V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=30;refseq.start=123104151;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 123181441 . G T 304.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=1;HaplotypeScore=4.61;MQ=98.86;MQ0=0;OQ=16086.98;QD=38.76;RankSumP=1.00000;SB=-4619.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.827C>A;refseq.codonCoord=276;refseq.end=123181441;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_001005325;refseq.name2=OR6M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T276K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-116;refseq.start=123181441;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr11 123259147 . A G 255.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=12.19;MQ=98.90;MQ0=0;OQ=14494.31;QD=38.24;RankSumP=1.00000;SB=-4657.01;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.586T>C;refseq.codonCoord=196;refseq.end=123259147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_001013743;refseq.name2=TMEM225;refseq.positionType=CDS;refseq.proteinCoordStr=p.C196R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=123;refseq.start=123259147;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr11 123260054 . T C 193.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.16;MQ0=0;OQ=16515.88;QD=41.71;RankSumP=1.00000;SB=-8186.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.401A>G;refseq.codonCoord=134;refseq.end=123260054;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_001013743;refseq.name2=TMEM225;refseq.positionType=CDS;refseq.proteinCoordStr=p.N134S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-63;refseq.start=123260054;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr11 123282707 . G A 224.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=11.10;MQ=98.53;MQ0=0;OQ=21910.48;QD=38.85;RankSumP=1.00000;SB=-7544.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.359G>A;refseq.codonCoord=120;refseq.end=123282707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C120Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=359;refseq.start=123282707;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr11 123282708 . C T 149.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=98.52;MQ0=0;OQ=22699.50;QD=40.53;RankSumP=1.00000;SB=-7717.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.360C>T;refseq.codonCoord=120;refseq.end=123282708;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C120C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=360;refseq.start=123282708;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr11 123282746 . G A 102.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=399;Dels=0.00;HRun=1;HaplotypeScore=4.43;MQ=98.46;MQ0=0;OQ=16589.14;QD=41.58;RankSumP=1.00000;SB=-7595.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398G>A;refseq.codonCoord=133;refseq.end=123282746;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R133K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=398;refseq.start=123282746;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr11 123282946 . T C 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=608;Dels=0.00;HRun=0;HaplotypeScore=25.27;MQ=98.85;MQ0=0;OQ=24858.56;QD=40.89;RankSumP=1.00000;SB=-9799.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.598T>C;refseq.codonCoord=200;refseq.end=123282946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F200L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-348;refseq.start=123282946;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr11 123283028 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.680G>C;refseq.codonCoord=227;refseq.end=123283028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R227P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-266;refseq.start=123283028;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 123283196 . T C 297.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.58;MQ0=0;OQ=9966.12;QD=41.87;RankSumP=1.00000;SB=-2963.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.848T>C;refseq.codonCoord=283;refseq.end=123283196;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L283P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-98;refseq.start=123283196;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 123283241 . G A 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=5958.83;QD=43.50;RankSumP=1.00000;SB=-1460.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.893G>A;refseq.codonCoord=298;refseq.end=123283241;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_001005197;refseq.name2=OR8D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R298K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-53;refseq.start=123283241;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr11 123319033 . G A 208.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.66;MQ0=0;OQ=13977.06;QD=41.11;RankSumP=1.00000;SB=-5086.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=123319033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_001005187;refseq.name2=OR6T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C241C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-250;refseq.start=123319033;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr11 123319150 . G C 147.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.61;MQ0=0;OQ=7771.54;QD=47.68;RankSumP=1.00000;SB=-3659.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.606C>G;refseq.codonCoord=202;refseq.end=123319150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=606;refseq.name=NM_001005187;refseq.name2=OR6T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L202L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-367;refseq.start=123319150;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 123319644 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.112A>C;refseq.codonCoord=38;refseq.end=123319644;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=112;refseq.name=NM_001005187;refseq.name2=OR6T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T38P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=112;refseq.start=123319644;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr11 123319699 . A G 322.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=98.86;MQ0=0;OQ=6440.33;QD=37.44;RankSumP=1.00000;SB=-2889.45;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.57T>C;refseq.codonCoord=19;refseq.end=123319699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_001005187;refseq.name2=OR6T1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S19S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=57;refseq.start=123319699;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr11 123391518 . A G 229.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=31.19;MQ0=118;OQ=3970.56;QD=15.45;RankSumP=1.00000;SB=-1941.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.27A>G;refseq.codonCoord=9;refseq.end=123391518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=27;refseq.name=NM_001004462;refseq.name2=OR10G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A9A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=27;refseq.start=123391518;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr11 123391530 . A G 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=227;Dels=0.00;HRun=2;HaplotypeScore=4.62;MQ=29.10;MQ0=137;OQ=2173.52;QD=9.57;RankSumP=1.00000;SB=-109.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.39A>G;refseq.codonCoord=13;refseq.end=123391530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=39;refseq.name=NM_001004462;refseq.name2=OR10G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=39;refseq.start=123391530;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr11 123391562 . T C 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=181;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=29.24;MQ0=135;OQ=1604.62;QD=8.87;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.71T>C;refseq.codonCoord=24;refseq.end=123391562;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=71;refseq.name=NM_001004462;refseq.name2=OR10G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L24P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=71;refseq.start=123391562;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr11 123392075 . T A 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=836;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=58.80;MQ0=363;OQ=17364.94;QD=20.77;RankSumP=1.00000;SB=-7750.05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.584T>A;refseq.codonCoord=195;refseq.end=123392075;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_001004462;refseq.name2=OR10G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V195E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-353;refseq.start=123392075;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr11 123392394 . T G 292.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=84.66;MQ0=51;OQ=11127.42;QD=35.66;RankSumP=1.00000;SB=-2674.58;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.903T>G;refseq.codonCoord=301;refseq.end=123392394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_001004462;refseq.name2=OR10G4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L301L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-34;refseq.start=123392394;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 123398938 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=856;Dels=0.00;HRun=0;HaplotypeScore=31.31;MQ=80.21;MQ0=160;OQ=1214.05;QD=1.42;RankSumP=0.408010;SB=-228.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.9G>C;refseq.codonCoord=3;refseq.end=123398938;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K3N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=123398938;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 0/1 chr11 123398939 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=883;Dels=0.00;HRun=1;HaplotypeScore=28.58;MQ=79.97;MQ0=162;OQ=679.56;QD=0.77;RankSumP=0.371594;SB=-161.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=123398939;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=123398939;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 0/1 chr11 123399001 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1319;Dels=0.00;HRun=4;HaplotypeScore=42.54;MQ=65.60;MQ0=284;OQ=388.13;QD=0.29;RankSumP=1.59779e-05;SB=-164.82;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.72A>C;refseq.codonCoord=24;refseq.end=123399001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P24P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=72;refseq.start=123399001;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 123399194 rs11219412 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=766;Dels=0.00;HRun=1;HaplotypeScore=44.16;MQ=8.41;MQ0=759;OQ=191.24;QD=0.25;SB=-10.00;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.265A>C;refseq.codonCoord=89;refseq.end=123399194;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R89R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=265;refseq.start=123399194;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:486,280:7:-22.70,-2.11,-0.00:21.05 chr11 123399198 rs11535718 C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=753;Dels=0.00;HRun=1;HaplotypeScore=38.78;MQ=7.24;MQ0=748;OQ=181.76;QD=0.24;SB=-10.00;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.269C>T;refseq.codonCoord=90;refseq.end=123399198;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A90V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=269;refseq.start=123399198;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:465,283:5:-21.74,-1.51,-0.00:15.05 chr11 123399346 . A G 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=1;HaplotypeScore=5.20;MQ=22.47;MQ0=287;OQ=3887.55;QD=9.44;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.417A>G;refseq.codonCoord=139;refseq.end=123399346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R139R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=417;refseq.start=123399346;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr11 123399444 . A G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1009;Dels=0.00;HRun=1;HaplotypeScore=25.84;MQ=51.39;MQ0=363;OQ=22049.50;QD=21.85;RankSumP=1.00000;SB=-8625.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.515A>G;refseq.codonCoord=172;refseq.end=123399444;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q172R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-422;refseq.start=123399444;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr11 123399612 . A G 78.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=6.21;MQ=71.29;MQ0=68;OQ=9088.59;QD=26.19;RankSumP=0.245383;SB=-3328.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.683A>G;refseq.codonCoord=228;refseq.end=123399612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001001953;refseq.name2=OR10G9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H228R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-254;refseq.start=123399612;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 0/1 chr11 123405577 . T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1086;Dels=0.00;HRun=0;HaplotypeScore=23.80;MQ=81.07;MQ0=4;OQ=610.60;QD=0.56;SB=93.84;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.38T>C;refseq.codonCoord=13;refseq.end=123405577;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=38;refseq.name=NM_001004464;refseq.name2=OR10G8;refseq.positionType=CDS;refseq.proteinCoordStr=p.M13T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=38;refseq.start=123405577;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:981,100:1039:-377.27,-312.93,-3936.17:99 chr11 123405592 . C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1145;Dels=0.00;HRun=0;HaplotypeScore=25.08;MQ=76.90;MQ0=12;OQ=797.36;QD=0.70;SB=10.30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.53C>T;refseq.codonCoord=18;refseq.end=123405592;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=53;refseq.name=NM_001004464;refseq.name2=OR10G8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=53;refseq.start=123405592;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1038,107:1094:-412.42,-329.40,-4195.71:99 chr11 123405595 . C A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1164;Dels=0.00;HRun=1;HaplotypeScore=18.56;MQ=75.84;MQ0=13;OQ=535.98;QD=0.46;SB=137.72;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.56C>A;refseq.codonCoord=19;refseq.end=123405595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_001004464;refseq.name2=OR10G8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=56;refseq.start=123405595;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1057,107:1114:-392.28,-335.40,-4249.00:99 chr11 123406357 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.818T>G;refseq.codonCoord=273;refseq.end=123406357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_001004464;refseq.name2=OR10G8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V273G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-119;refseq.start=123406357;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr11 123414283 . C G 119.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=13.64;MQ=79.04;MQ0=61;OQ=17804.16;QD=40.56;RankSumP=1.00000;SB=-6448.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.636G>C;refseq.codonCoord=212;refseq.end=123414283;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L212L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-301;refseq.start=123414283;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr11 123414382 . G A 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1731;Dels=0.00;HRun=0;HaplotypeScore=34.73;MQ=41.24;MQ0=1142;OQ=20551.19;QD=11.87;RankSumP=1.00000;SB=-6960.87;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.537C>T;refseq.codonCoord=179;refseq.end=123414382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D179D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-400;refseq.start=123414382;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr11 123414552 . G A 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=624;Dels=0.00;HRun=1;HaplotypeScore=12.57;MQ=83.22;MQ0=84;OQ=22218.73;QD=35.61;RankSumP=1.00000;SB=-5510.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.367C>T;refseq.codonCoord=123;refseq.end=123414552;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L123L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=367;refseq.start=123414552;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 123414651 . T C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.135981;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.268A>G;refseq.codonCoord=90;refseq.end=123414651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T90A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=268;refseq.start=123414651;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr11 123414860 . C G 12336.04 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=664;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=57.04;MQ0=121;QD=18.58;RankSumP=1.00000;SB=-4311.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.59G>C;refseq.codonCoord=20;refseq.end=123414860;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G20A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=59;refseq.start=123414860;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/1 chr11 123414863 . G T 11027.92 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=665;Dels=0.00;HRun=1;HaplotypeScore=9.92;MQ=59.25;MQ0=118;QD=16.58;RankSumP=1.00000;SB=-3572.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.56C>A;refseq.codonCoord=19;refseq.end=123414863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=56;refseq.start=123414863;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/1 chr11 123414866 . G A 11872.01 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=11;DB;DP=637;Dels=0.00;HRun=0;HaplotypeScore=16.62;MQ=61.20;MQ0=110;QD=18.64;RankSumP=1.00000;SB=-4113.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.53C>T;refseq.codonCoord=18;refseq.end=123414866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=53;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=53;refseq.start=123414866;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/1 chr11 123414905 . G C 258.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=81.61;MQ0=43;OQ=10680.36;QD=40.46;RankSumP=1.00000;SB=-2454.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.14C>G;refseq.codonCoord=5;refseq.end=123414905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=14;refseq.name=NM_001004463;refseq.name2=OR10G7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T5S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=14;refseq.start=123414905;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr11 123493642 . T G 19.39 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=146;Dels=0.00;HRun=2;HaplotypeScore=18.55;MQ=98.01;MQ0=0;QD=0.13;RankSumP=0.00000;SB=191.64;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.96T>G;refseq.codingCoordStr_2=c.96T>G;refseq.codingCoordStr_3=c.96T>G;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.end_1=123493642;refseq.end_2=123493642;refseq.end_3=123493642;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=305;refseq.mrnaCoord_2=190;refseq.mrnaCoord_3=190;refseq.name2_1=VWA5A;refseq.name2_2=VWA5A;refseq.name2_3=VWA5A;refseq.name_1=NM_001130142;refseq.name_2=NM_014622;refseq.name_3=NM_198315;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G32G;refseq.proteinCoordStr_2=p.G32G;refseq.proteinCoordStr_3=p.G32G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=123493642;refseq.start_2=123493642;refseq.start_3=123493642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 123493644 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=3.08939e-09;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.98T>G;refseq.codingCoordStr_2=c.98T>G;refseq.codingCoordStr_3=c.98T>G;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=123493644;refseq.end_2=123493644;refseq.end_3=123493644;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=307;refseq.mrnaCoord_2=192;refseq.mrnaCoord_3=192;refseq.name2_1=VWA5A;refseq.name2_2=VWA5A;refseq.name2_3=VWA5A;refseq.name_1=NM_001130142;refseq.name_2=NM_014622;refseq.name_3=NM_198315;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V33G;refseq.proteinCoordStr_2=p.V33G;refseq.proteinCoordStr_3=p.V33G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=123493644;refseq.start_2=123493644;refseq.start_3=123493644;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 123499324 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.972T>G;refseq.codingCoordStr_2=c.972T>G;refseq.codingCoordStr_3=c.972T>G;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.codonCoord_3=324;refseq.end_1=123499324;refseq.end_2=123499324;refseq.end_3=123499324;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1181;refseq.mrnaCoord_2=1066;refseq.mrnaCoord_3=1066;refseq.name2_1=VWA5A;refseq.name2_2=VWA5A;refseq.name2_3=VWA5A;refseq.name_1=NM_001130142;refseq.name_2=NM_014622;refseq.name_3=NM_198315;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C324W;refseq.proteinCoordStr_2=p.C324W;refseq.proteinCoordStr_3=p.C324W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=123499324;refseq.start_2=123499324;refseq.start_3=123499324;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 1/0 chr11 123513110 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=134;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=2289.35;QD=17.08;RankSumP=0.0613477;SB=-1133.49;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1804C>T;refseq.codingCoordStr_2=c.1804C>T;refseq.codonCoord_1=602;refseq.codonCoord_2=602;refseq.end_1=123513110;refseq.end_2=123513110;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2013;refseq.mrnaCoord_2=1898;refseq.name2_1=VWA5A;refseq.name2_2=VWA5A;refseq.name_1=NM_001130142;refseq.name_2=NM_014622;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P602S;refseq.proteinCoordStr_2=p.P602S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=123513110;refseq.start_2=123513110;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr11 123695232 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.72A>C;refseq.codonCoord=24;refseq.end=123695232;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_001002918;refseq.name2=OR8D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q24H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=72;refseq.start=123695232;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr11 123757632 . G A 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=363;Dels=0.00;HRun=3;HaplotypeScore=15.02;MQ=21.55;MQ0=248;OQ=4797.03;QD=13.21;RankSumP=1.00000;SB=-1333.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.818C>T;refseq.codonCoord=273;refseq.end=123757632;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S273F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-125;refseq.start=123757632;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 123757841 . C A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.607143;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.609G>T;refseq.codonCoord=203;refseq.end=123757841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V203V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-334;refseq.start=123757841;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr11 123757928 rs55989857 G A 0.11 PASS AC=2;AF=1.00;AN=2;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=7.75;MQ0=183;OQ=87.79;QD=0.46;SB=-10.00;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.522C>T;refseq.codonCoord=174;refseq.end=123757928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I174I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-421;refseq.start=123757928;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=gatk GT:AD:DP:GL:GQ 1/1:56,133:3:-12.27,-0.90,-0.00:9.03 chr11 123758102 . A G 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=38.97;MQ0=59;OQ=3939.27;QD=22.77;RankSumP=1.00000;SB=-559.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.348T>C;refseq.codonCoord=116;refseq.end=123758102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T116T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=348;refseq.start=123758102;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr11 123758146 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=3.93331e-08;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.304T>G;refseq.codonCoord=102;refseq.end=123758146;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F102V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=304;refseq.start=123758146;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr11 123758192 . C T 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.436119;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.258G>A;refseq.codonCoord=86;refseq.end=123758192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V86V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=258;refseq.start=123758192;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr11 123758310 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=856;Dels=0.00;HRun=1;HaplotypeScore=19.98;MQ=44.26;MQ0=231;OQ=561.79;QD=0.66;RankSumP=0.00000;SB=673.92;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.140C>T;refseq.codonCoord=47;refseq.end=123758310;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T47I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=140;refseq.start=123758310;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr11 123758357 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=824;Dels=0.00;HRun=1;HaplotypeScore=13.89;MQ=47.15;MQ0=78;OQ=13443.81;QD=16.32;RankSumP=0.392042;SB=-3782.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.93T>C;refseq.codonCoord=31;refseq.end=123758357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=93;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F31F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=93;refseq.start=123758357;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr11 123758371 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=789;Dels=0.00;HRun=1;HaplotypeScore=19.95;MQ=51.03;MQ0=39;OQ=11437.69;QD=14.50;RankSumP=7.35001e-08;SB=-2205.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.79C>T;refseq.codonCoord=27;refseq.end=123758371;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L27F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=79;refseq.start=123758371;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=filterInsoap-gatk GT 1/0 chr11 123758380 rs530765 G A 80.86 PASS AC=1;AF=0.50;AN=2;DB;DP=733;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=46.24;MQ0=34;OQ=9834.36;QD=13.42;SB=-1893.64;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.70C>T;refseq.codonCoord=24;refseq.end=123758380;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=70;refseq.start=123758380;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=gatk GT:AD:DP:GL:GQ 0/1:498,235:654:-982.44,-196.93,-1715.69:99 chr11 123758391 . T C 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=635;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=41.94;MQ0=61;OQ=20912.93;QD=32.93;RankSumP=1.00000;SB=-6928.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.59A>G;refseq.codonCoord=20;refseq.end=123758391;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_001005468;refseq.name2=OR8B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H20R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=59;refseq.start=123758391;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr11 123772116 . C T 235.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=83.29;MQ0=18;OQ=6513.49;QD=34.46;RankSumP=1.00000;SB=-2226.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.342G>A;refseq.codonCoord=114;refseq.end=123772116;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_001005467;refseq.name2=OR8B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M114I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=342;refseq.start=123772116;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr11 123772122 . A G 336.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=86.36;MQ0=13;OQ=7326.41;QD=37.57;RankSumP=1.00000;SB=-2700.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.336T>C;refseq.codonCoord=112;refseq.end=123772122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_001005467;refseq.name2=OR8B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C112C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=336;refseq.start=123772122;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr11 123772358 . C T 13.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.27;MQ0=79;OQ=1289.53;QD=10.93;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.100G>A;refseq.codonCoord=34;refseq.end=123772358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=100;refseq.name=NM_001005467;refseq.name2=OR8B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V34I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=100;refseq.start=123772358;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/1 chr11 123945572 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=5829.15;QD=25.34;RankSumP=0.195826;SB=-2212.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398C>G;refseq.codonCoord=133;refseq.end=123945572;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001005194;refseq.name2=OR8A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T133R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=398;refseq.start=123945572;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr11 123945827 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=4;HaplotypeScore=6.99;MQ=98.86;MQ0=0;OQ=12923.83;QD=41.03;RankSumP=1.00000;SB=-4471.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.653C>T;refseq.codonCoord=218;refseq.end=123945827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_001005194;refseq.name2=OR8A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S218L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-329;refseq.start=123945827;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr11 123986728 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.66A>C;refseq.codonCoord=22;refseq.end=123986728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=66;refseq.name=NM_052959;refseq.name2=PANX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G22G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=66;refseq.start=123986728;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr11 123994984 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1122C>G;refseq.codonCoord=374;refseq.end=123994984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_052959;refseq.name2=PANX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G374G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-478;refseq.start=123994984;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 124175122 . A C 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.501047;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.365T>G;refseq.codonCoord=122;refseq.end=124175122;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_024631;refseq.name2=C11orf61;refseq.positionType=CDS;refseq.proteinCoordStr=p.V122G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-146;refseq.start=124175122;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr11 124266403 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr11;refseq.codingCoordStr=c.1948+2;refseq.end=124266403;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=124266403;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr11 124271338 . A G 455.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.72;MQ0=0;OQ=7137.78;QD=40.10;RankSumP=1.00000;SB=-2129.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.645T>C;refseq.codonCoord=215;refseq.end=124271338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=785;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H215H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-35;refseq.start=124271338;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr11 124271413 . C T 229.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=6.53;MQ=98.79;MQ0=0;OQ=6548.39;QD=17.79;RankSumP=0.0152707;SB=-2587.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.570G>A;refseq.codonCoord=190;refseq.end=124271413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=12;refseq.start=124271413;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 124272277 . T C 126.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.71;MQ0=0;OQ=1393.84;QD=32.41;RankSumP=1.00000;SB=-240.10;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.161A>G;refseq.codonCoord=54;refseq.end=124272277;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q54R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=91;refseq.start=124272277;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr11 124272335 . G A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.27;MQ0=0;OQ=106.38;QD=8.18;RankSumP=0.226773;SB=-49.65;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.103C>T;refseq.codonCoord=35;refseq.end=124272335;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L35L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=33;refseq.start=124272335;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr11 124272896 . G T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=97.12;MQ0=0;OQ=131.84;QD=5.27;RankSumP=0.728281;SB=-38.91;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.6C>A;refseq.codonCoord=2;refseq.end=124272896;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_019055;refseq.name2=ROBO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-65;refseq.start=124272896;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr11 124294965 . T C 281.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=98.47;MQ0=0;OQ=7051.06;QD=35.97;RankSumP=1.00000;SB=-3154.96;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.109T>C;refseq.codingCoordStr_2=c.*1279A>G;refseq.codonCoord_1=37;refseq.end_1=124294965;refseq.end_2=124294965;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=610;refseq.mrnaCoord_2=2936;refseq.name2_1=HEPN1;refseq.name2_2=HEPACAM;refseq.name_1=NM_001037558;refseq.name_2=NM_152722;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.W37R;refseq.referenceAA_1=Trp;refseq.referenceCodon_1=TGG;refseq.spliceDist_1=610;refseq.spliceDist_2=-610;refseq.start_1=124294965;refseq.start_2=124294965;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantCodon_1=CGG;set=Intersection GT 1/1 chr11 124298892 . T C 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=18.09;MQ=98.39;MQ0=0;OQ=10241.04;QD=30.39;RankSumP=1.00000;SB=-3455.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.652A>G;refseq.codonCoord=218;refseq.end=124298892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_152722;refseq.name2=HEPACAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.M218V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-58;refseq.start=124298892;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr11 124300039 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=2;RankSumP=0.00245619;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.222C>A;refseq.codonCoord=74;refseq.end=124300039;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_152722;refseq.name2=HEPACAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.D74E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=137;refseq.start=124300039;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr11 124452606 . A G 101.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.57;MQ0=0;OQ=1864.17;QD=13.22;RankSumP=0.0684419;SB=-867.24;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.286A>G;refseq.codingCoordStr_2=c.286A>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=124452606;refseq.end_2=124452606;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=537;refseq.mrnaCoord_2=537;refseq.name2_1=SLC37A2;refseq.name2_2=SLC37A2;refseq.name_1=NM_001145290;refseq.name_2=NM_198277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I96V;refseq.proteinCoordStr_2=p.I96V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=124452606;refseq.start_2=124452606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr11 124457419 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.955C>G;refseq.codingCoordStr_2=c.955C>G;refseq.codonCoord_1=319;refseq.codonCoord_2=319;refseq.end_1=124457419;refseq.end_2=124457419;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1206;refseq.mrnaCoord_2=1206;refseq.name2_1=SLC37A2;refseq.name2_2=SLC37A2;refseq.name_1=NM_001145290;refseq.name_2=NM_198277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P319A;refseq.proteinCoordStr_2=p.P319A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=124457419;refseq.start_2=124457419;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr11 124460242 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=4.41;MQ=98.84;MQ0=0;OQ=2533.04;QD=11.06;RankSumP=0.275676;SB=-722.31;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1245T>C;refseq.codingCoordStr_2=c.1245T>C;refseq.codonCoord_1=415;refseq.codonCoord_2=415;refseq.end_1=124460242;refseq.end_2=124460242;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1496;refseq.mrnaCoord_2=1496;refseq.name2_1=SLC37A2;refseq.name2_2=SLC37A2;refseq.name_1=NM_001145290;refseq.name_2=NM_198277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D415D;refseq.proteinCoordStr_2=p.D415D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=124460242;refseq.start_2=124460242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr11 124984573 . G A 242.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=505;Dels=0.00;HRun=0;HaplotypeScore=13.47;MQ=98.65;MQ0=0;OQ=11079.47;QD=21.94;RankSumP=0.430967;SB=-3671.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.996G>A;refseq.codonCoord=332;refseq.end=124984573;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_152713;refseq.name2=STT3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S332S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=35;refseq.start=124984573;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr11 124995218 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2066T>G;refseq.codonCoord=689;refseq.end=124995218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2176;refseq.name=NM_152713;refseq.name2=STT3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V689G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-14;refseq.start=124995218;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr11 125004400 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.353T>G;refseq.codingCoordStr_2=c.353T>G;refseq.codingCoordStr_3=c.353T>G;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=125004400;refseq.end_2=125004400;refseq.end_3=125004400;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=1245;refseq.mrnaCoord_3=532;refseq.name2_1=CHEK1;refseq.name2_2=CHEK1;refseq.name2_3=CHEK1;refseq.name_1=NM_001114121;refseq.name_2=NM_001114122;refseq.name_3=NM_001274;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V118G;refseq.proteinCoordStr_2=p.V118G;refseq.proteinCoordStr_3=p.V118G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=125004400;refseq.start_2=125004400;refseq.start_3=125004400;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr11 125030405 . A G 112.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=3.53;MQ=98.92;MQ0=0;OQ=4414.78;QD=29.04;RankSumP=1.00000;SB=-1615.79;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_1=c.1411A>G;refseq.codingCoordStr_2=c.1411A>G;refseq.codingCoordStr_3=c.1411A>G;refseq.codonCoord_1=471;refseq.codonCoord_2=471;refseq.codonCoord_3=471;refseq.end_1=125030405;refseq.end_2=125030405;refseq.end_3=125030405;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2303;refseq.mrnaCoord_2=2303;refseq.mrnaCoord_3=1590;refseq.name2_1=CHEK1;refseq.name2_2=CHEK1;refseq.name2_3=CHEK1;refseq.name_1=NM_001114121;refseq.name_2=NM_001114122;refseq.name_3=NM_001274;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I471V;refseq.proteinCoordStr_2=p.I471V;refseq.proteinCoordStr_3=p.I471V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=-48;refseq.spliceDist_2=76;refseq.spliceDist_3=76;refseq.start_1=125030405;refseq.start_2=125030405;refseq.start_3=125030405;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr11 125122816 . G A 233.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=18.17;MQ=98.73;MQ0=0;OQ=7334.83;QD=19.00;RankSumP=0.103370;SB=-3066.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.136G>A;refseq.codonCoord=46;refseq.end=125122816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_138294;refseq.name2=PATE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V46I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=12;refseq.start=125122816;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr11 125122820 . A G 116.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=373;Dels=0.00;HRun=1;HaplotypeScore=6.34;MQ=98.80;MQ0=0;OQ=7846.59;QD=21.04;RankSumP=0.139469;SB=-3128.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.140A>G;refseq.codonCoord=47;refseq.end=125122820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_138294;refseq.name2=PATE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q47R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=16;refseq.start=125122820;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr11 125268956 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=9.92;MQ=98.55;MQ0=0;OQ=12445.58;QD=26.15;RankSumP=0.121909;SB=-4508.04;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.1380G>C;refseq.codonCoord_3=460;refseq.end_1=125274198;refseq.end_2=125274438;refseq.end_3=125268956;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1478;refseq.name2_1=HYLS1;refseq.name2_2=HYLS1;refseq.name2_3=PUS3;refseq.name_1=NM_145014;refseq.name_2=NM_001134793;refseq.name_3=NM_031307;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E460D;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAG;refseq.spliceDist_3=-366;refseq.start_1=125266588;refseq.start_2=125266588;refseq.start_3=125268956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr11 125271254 . C A 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=734;Dels=0.00;HRun=0;HaplotypeScore=15.52;MQ=98.93;MQ0=0;OQ=28566.08;QD=38.92;RankSumP=1.00000;SB=-13280.57;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.136G>T;refseq.codonCoord_3=46;refseq.end_1=125274198;refseq.end_2=125274438;refseq.end_3=125271254;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=234;refseq.name2_1=HYLS1;refseq.name2_2=HYLS1;refseq.name2_3=PUS3;refseq.name_1=NM_145014;refseq.name_2=NM_001134793;refseq.name_3=NM_031307;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A46S;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_3=182;refseq.start_1=125266588;refseq.start_2=125266588;refseq.start_3=125271254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCA;set=Intersection GT 1/1 chr11 125271383 . A C 388.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=10353.02;QD=41.75;RankSumP=1.00000;SB=-3309.85;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_3=c.7T>G;refseq.codonCoord_3=3;refseq.end_1=125274198;refseq.end_2=125274438;refseq.end_3=125271383;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=105;refseq.name2_1=HYLS1;refseq.name2_2=HYLS1;refseq.name2_3=PUS3;refseq.name_1=NM_145014;refseq.name_2=NM_001134793;refseq.name_3=NM_031307;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Y3D;refseq.referenceAA_3=Tyr;refseq.referenceCodon_3=TAT;refseq.spliceDist_3=53;refseq.start_1=125266588;refseq.start_2=125266588;refseq.start_3=125271383;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr11 125274564 . T C 146.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=10.39;MQ=98.71;MQ0=0;OQ=4106.16;QD=15.55;RankSumP=0.0108265;SB=-1350.44;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.91T>C;refseq.codingCoordStr_3=c.91T>C;refseq.codonCoord_2=31;refseq.codonCoord_3=31;refseq.end_1=125278264;refseq.end_2=125274564;refseq.end_3=125274564;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=872;refseq.mrnaCoord_3=625;refseq.name2_1=PUS3;refseq.name2_2=HYLS1;refseq.name2_3=HYLS1;refseq.name_1=NM_031307;refseq.name_2=NM_001134793;refseq.name_3=NM_145014;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C31R;refseq.proteinCoordStr_3=p.C31R;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=125271446;refseq.start_2=125274564;refseq.start_3=125274564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr11 125336180 . A T 276.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2353.38;QD=39.89;RankSumP=1.00000;SB=-771.80;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3662T>A;refseq.codonCoord=1221;refseq.end=125336180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3790;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1221N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=31;refseq.start=125336180;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr11 125336911 . G A 335.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.70;MQ0=0;OQ=6843.61;QD=41.48;RankSumP=1.00000;SB=-2226.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3549C>T;refseq.codonCoord=1183;refseq.end=125336911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3677;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1183V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-83;refseq.start=125336911;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr11 125353471 . C T 233.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=99.00;MQ0=0;OQ=2808.41;QD=18.36;RankSumP=0.0720373;SB=-1150.06;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3294G>A;refseq.codonCoord=1098;refseq.end=125353471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3422;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1098T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=18;refseq.start=125353471;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr11 125379038 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1995A>C;refseq.codonCoord=665;refseq.end=125379038;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2123;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q665H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-32;refseq.start=125379038;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr11 125396351 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.chr=chr11;refseq.codingCoordStr=c.349+2;refseq.end=125396351;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=125396351;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr11 125396372 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=3;HaplotypeScore=5.32;MQ=98.40;MQ0=0;OQ=2480.67;QD=13.06;RankSumP=0.356895;SB=-927.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.330T>C;refseq.codonCoord=110;refseq.end=125396372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_016952;refseq.name2=CDON;refseq.positionType=CDS;refseq.proteinCoordStr=p.P110P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-20;refseq.start=125396372;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr11 125584725 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.458A>G;refseq.codingCoordStr_2=c.458A>G;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=125584725;refseq.end_2=125584725;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=512;refseq.mrnaCoord_2=512;refseq.name2_1=RPUSD4;refseq.name2_2=RPUSD4;refseq.name_1=NM_001144827;refseq.name_2=NM_032795;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D153G;refseq.proteinCoordStr_2=p.D153G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-100;refseq.spliceDist_2=-100;refseq.start_1=125584725;refseq.start_2=125584725;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr11 125642751 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.268T>G;refseq.codonCoord=90;refseq.end=125642751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_003139;refseq.name2=SRPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.F90V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=67;refseq.start=125642751;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr11 125644310 . T C 219.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=99.00;MQ0=0;OQ=1684.45;QD=15.89;RankSumP=0.187499;SB=-403.35;SecondBestBaseQ=30;refseq.chr=chr11;refseq.codingCoordStr=c.-2T>C;refseq.end=125644310;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=46;refseq.name=NM_017547;refseq.name2=FOXRED1;refseq.positionType=utr5;refseq.spliceDist=46;refseq.start=125644310;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr11 125651500 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=2;RankSumP=0.00000;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.973T>G;refseq.codonCoord=325;refseq.end=125651500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_017547;refseq.name2=FOXRED1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y325D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=125651500;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr11 125668072 . C T 211.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.58;MQ0=0;OQ=2605.88;QD=17.73;RankSumP=0.265368;SB=-1046.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.558C>T;refseq.codingCoordStr_2=c.558C>T;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.end_1=125668072;refseq.end_2=125668072;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=994;refseq.mrnaCoord_2=1010;refseq.name2_1=TIRAP;refseq.name2_2=TIRAP;refseq.name_1=NM_001039661;refseq.name_2=NM_148910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A186A;refseq.proteinCoordStr_2=p.A186A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-210;refseq.start_1=125668072;refseq.start_2=125668072;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr11 125681788 . G A 168.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=98.68;MQ0=0;OQ=4863.14;QD=23.05;RankSumP=0.365126;SB=-1507.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.315G>A;refseq.codonCoord=105;refseq.end=125681788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_014026;refseq.name2=DCPS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q105Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-62;refseq.start=125681788;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr11 125706531 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.398A>C;refseq.codonCoord=133;refseq.end=125706531;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=727;refseq.name=NM_014026;refseq.name2=DCPS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y133S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=22;refseq.start=125706531;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr11 125782426 . C T 345.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=98.91;MQ0=0;OQ=3935.94;QD=17.57;RankSumP=0.0741531;SB=-1319.43;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.240C>T;refseq.codonCoord=80;refseq.end=125782426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_006278;refseq.name2=ST3GAL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y80Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-29;refseq.start=125782426;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr11 125783285 . C T 230.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=14.57;MQ=98.14;MQ0=0;OQ=4523.04;QD=16.15;RankSumP=0.497939;SB=-1177.10;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.411C>T;refseq.codonCoord=137;refseq.end=125783285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_006278;refseq.name2=ST3GAL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y137Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-15;refseq.start=125783285;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr11 127861218 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.codingCoordStr_2=c.569A>C;refseq.codingCoordStr_3=c.437A>C;refseq.codonCoord_2=190;refseq.codonCoord_3=146;refseq.end_1=127897007;refseq.end_2=127861218;refseq.end_3=127861218;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=654;refseq.mrnaCoord_3=753;refseq.name2_1=ETS1;refseq.name2_2=ETS1;refseq.name2_3=ETS1;refseq.name_1=NM_001162422;refseq.name_2=NM_001143820;refseq.name_3=NM_005238;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N190T;refseq.proteinCoordStr_3=p.N146T;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=127855567;refseq.start_2=127861218;refseq.start_3=127861218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr11 128286549 . T C 160.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=98.61;MQ0=0;OQ=2279.63;QD=12.81;RankSumP=0.279334;SB=-822.12;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.171T>C;refseq.codonCoord=57;refseq.end=128286549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_000890;refseq.name2=KCNJ5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=181;refseq.start=128286549;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr11 128287188 . T G 247.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=5.60;MQ=97.91;MQ0=0;OQ=5590.03;QD=16.11;RankSumP=0.116667;SB=-1724.81;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.810T>G;refseq.codonCoord=270;refseq.end=128287188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_000890;refseq.name2=KCNJ5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L270L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-128;refseq.start=128287188;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 128287212 . T C 200.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=432;Dels=0.00;HRun=0;HaplotypeScore=12.65;MQ=98.11;MQ0=0;OQ=7120.24;QD=16.48;RankSumP=0.295374;SB=-2310.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.834T>C;refseq.codonCoord=278;refseq.end=128287212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1148;refseq.name=NM_000890;refseq.name2=KCNJ5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H278H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-104;refseq.start=128287212;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr11 128287222 . C G 211.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.44;MQ0=0;OQ=20125.00;QD=44.23;RankSumP=1.00000;SB=-7966.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.844C>G;refseq.codonCoord=282;refseq.end=128287222;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1158;refseq.name=NM_000890;refseq.name2=KCNJ5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q282E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-94;refseq.start=128287222;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr11 128344366 . T C 169.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=98.87;MQ0=0;OQ=2538.03;QD=17.63;RankSumP=0.382529;SB=-861.56;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.5910A>G;refseq.codingCoordStr_2=c.4863A>G;refseq.codonCoord_1=1970;refseq.codonCoord_2=1621;refseq.end_1=128344366;refseq.end_2=128344366;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5910;refseq.mrnaCoord_2=5242;refseq.name2_1=ARHGAP32;refseq.name2_2=ARHGAP32;refseq.name_1=NM_001142685;refseq.name_2=NM_014715;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1970E;refseq.proteinCoordStr_2=p.E1621E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=1899;refseq.spliceDist_2=1899;refseq.start_1=128344366;refseq.start_2=128344366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr11 128344736 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=22.78;MQ=98.05;MQ0=0;OQ=2229.94;QD=10.93;RankSumP=0.169239;SB=-836.92;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.5540G>C;refseq.codingCoordStr_2=c.4493G>C;refseq.codonCoord_1=1847;refseq.codonCoord_2=1498;refseq.end_1=128344736;refseq.end_2=128344736;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5540;refseq.mrnaCoord_2=4872;refseq.name2_1=ARHGAP32;refseq.name2_2=ARHGAP32;refseq.name_1=NM_001142685;refseq.name_2=NM_014715;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1847T;refseq.proteinCoordStr_2=p.S1498T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=1529;refseq.spliceDist_2=1529;refseq.start_1=128344736;refseq.start_2=128344736;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr11 128348083 . T C 315.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.93;MQ0=0;OQ=10367.12;QD=21.33;RankSumP=0.354202;SB=-3136.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.3486A>G;refseq.codingCoordStr_2=c.2439A>G;refseq.codonCoord_1=1162;refseq.codonCoord_2=813;refseq.end_1=128348083;refseq.end_2=128348083;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3486;refseq.mrnaCoord_2=2818;refseq.name2_1=ARHGAP32;refseq.name2_2=ARHGAP32;refseq.name_1=NM_001142685;refseq.name_2=NM_014715;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1162E;refseq.proteinCoordStr_2=p.E813E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=455;refseq.spliceDist_2=455;refseq.start_1=128348083;refseq.start_2=128348083;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr11 129229904 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.368T>G;refseq.codonCoord=123;refseq.end=129229904;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_138788;refseq.name2=TMEM45B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V123G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-18;refseq.start=129229904;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 129230814 . T G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.503443;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.387T>G;refseq.codonCoord=129;refseq.end=129230814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_138788;refseq.name2=TMEM45B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G129G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=129230814;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr11 129244693 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.3437C>T;refseq.codingCoordStr_2=c.3512C>T;refseq.codonCoord_1=1146;refseq.codonCoord_2=1171;refseq.end_1=129244693;refseq.end_2=129244693;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3638;refseq.mrnaCoord_2=3633;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1146F;refseq.proteinCoordStr_2=p.S1171F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-95;refseq.spliceDist_2=-95;refseq.start_1=129244693;refseq.start_2=129244693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr11 129245309 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2821A>C;refseq.codingCoordStr_2=c.2896A>C;refseq.codonCoord_1=941;refseq.codonCoord_2=966;refseq.end_1=129245309;refseq.end_2=129245309;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3022;refseq.mrnaCoord_2=3017;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T941P;refseq.proteinCoordStr_2=p.T966P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=129245309;refseq.start_2=129245309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr11 129248886 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.2514T>C;refseq.codingCoordStr_2=c.2589T>C;refseq.codonCoord_1=838;refseq.codonCoord_2=863;refseq.end_1=129248886;refseq.end_2=129248886;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2715;refseq.mrnaCoord_2=2710;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V838V;refseq.proteinCoordStr_2=p.V863V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=129248886;refseq.start_2=129248886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr11 129249985 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1891C>A;refseq.codingCoordStr_2=c.1966C>A;refseq.codonCoord_1=631;refseq.codonCoord_2=656;refseq.end_1=129249985;refseq.end_2=129249985;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2092;refseq.mrnaCoord_2=2087;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H631N;refseq.proteinCoordStr_2=p.H656N;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=129249985;refseq.start_2=129249985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 0/1 chr11 129251917 . G T 340.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=11.66;MQ=98.44;MQ0=0;OQ=4416.08;QD=18.63;RankSumP=0.000106201;SB=-1746.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.1656C>A;refseq.codingCoordStr_2=c.1731C>A;refseq.codonCoord_1=552;refseq.codonCoord_2=577;refseq.end_1=129251917;refseq.end_2=129251917;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1857;refseq.mrnaCoord_2=1852;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G552G;refseq.proteinCoordStr_2=p.G577G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.start_1=129251917;refseq.start_2=129251917;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=filterInsoap-gatk GT 0/1 chr11 129259854 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=7.28;MQ=97.72;MQ0=0;OQ=659.39;QD=7.09;RankSumP=0.266157;SB=-222.34;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.738T>C;refseq.codingCoordStr_2=c.813T>C;refseq.codonCoord_1=246;refseq.codonCoord_2=271;refseq.end_1=129259854;refseq.end_2=129259854;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=934;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T246T;refseq.proteinCoordStr_2=p.T271T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=129259854;refseq.start_2=129259854;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr11 129259878 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=97.64;MQ0=0;OQ=558.33;QD=5.42;RankSumP=0.481412;SB=-242.30;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.714A>G;refseq.codingCoordStr_2=c.789A>G;refseq.codonCoord_1=238;refseq.codonCoord_2=263;refseq.end_1=129259878;refseq.end_2=129259878;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=915;refseq.mrnaCoord_2=910;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T238T;refseq.proteinCoordStr_2=p.T263T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=129259878;refseq.start_2=129259878;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr11 129261448 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.codingCoordStr_1=c.439C>G;refseq.codingCoordStr_2=c.478C>G;refseq.codonCoord_1=147;refseq.codonCoord_2=160;refseq.end_1=129261448;refseq.end_2=129261448;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=640;refseq.mrnaCoord_2=599;refseq.name2_1=NFRKB;refseq.name2_2=NFRKB;refseq.name_1=NM_001143835;refseq.name_2=NM_006165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L147V;refseq.proteinCoordStr_2=p.L160V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=129261448;refseq.start_2=129261448;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr11 129306319 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.1332A>C;refseq.codingCoordStr_2=c.1332A>C;refseq.codingCoordStr_3=c.1074A>C;refseq.codingCoordStr_4=c.1074A>C;refseq.codonCoord_1=444;refseq.codonCoord_2=444;refseq.codonCoord_3=358;refseq.codonCoord_4=358;refseq.end_1=129306319;refseq.end_2=129306319;refseq.end_3=129306319;refseq.end_4=129306319;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1564;refseq.mrnaCoord_2=1564;refseq.mrnaCoord_3=1290;refseq.mrnaCoord_4=1290;refseq.name2_1=PRDM10;refseq.name2_2=PRDM10;refseq.name2_3=PRDM10;refseq.name2_4=PRDM10;refseq.name_1=NM_020228;refseq.name_2=NM_199437;refseq.name_3=NM_199438;refseq.name_4=NM_199439;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E444D;refseq.proteinCoordStr_2=p.E444D;refseq.proteinCoordStr_3=p.E358D;refseq.proteinCoordStr_4=p.E358D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.spliceDist_4=45;refseq.start_1=129306319;refseq.start_2=129306319;refseq.start_3=129306319;refseq.start_4=129306319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 1/0 chr11 129569288 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.910A>C;refseq.codonCoord=304;refseq.end=129569288;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_021978;refseq.name2=ST14;refseq.positionType=CDS;refseq.proteinCoordStr=p.T304P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=35;refseq.start=129569288;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr11 129571545 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.47;MQ0=0;OQ=289.31;QD=9.33;RankSumP=0.687788;SB=-50.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1215C>T;refseq.codonCoord=405;refseq.end=129571545;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_021978;refseq.name2=ST14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N405N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=129571545;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr11 129573701 . G C 310.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=5.64;MQ=98.52;MQ0=0;OQ=2224.96;QD=17.12;RankSumP=0.384384;SB=-924.85;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1659G>C;refseq.codonCoord=553;refseq.end=129573701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1852;refseq.name=NM_021978;refseq.name2=ST14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G553G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-26;refseq.start=129573701;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr11 129780959 . T C 179.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=99.00;MQ0=0;OQ=1675.33;QD=18.01;RankSumP=0.0793355;SB=-793.60;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2374A>G;refseq.codonCoord=792;refseq.end=129780959;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2732;refseq.name=NM_007037;refseq.name2=ADAMTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T792A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=275;refseq.start=129780959;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr11 129781224 . G T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=126;Dels=0.00;HRun=2;HaplotypeScore=19.19;MQ=95.89;MQ0=0;OQ=393.21;QD=3.12;RankSumP=2.35469e-08;SB=116.38;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2109C>A;refseq.codonCoord=703;refseq.end=129781224;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2467;refseq.name=NM_007037;refseq.name2=ADAMTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y703*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=129781224;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr11 129786698 . G A 310.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.57;MQ0=0;OQ=12484.27;QD=39.89;RankSumP=1.00000;SB=-4841.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1574C>T;refseq.codonCoord=525;refseq.end=129786698;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_007037;refseq.name2=ADAMTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A525V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=129786698;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr11 129803167 . T C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=324.15;QD=29.47;RankSumP=1.00000;SB=-133.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.225A>G;refseq.codonCoord=75;refseq.end=129803167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_007037;refseq.name2=ADAMTS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L75L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-496;refseq.start=129803167;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr11 129844522 . T C 219.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.55;MQ0=0;OQ=564.78;QD=37.65;RankSumP=1.00000;SB=-130.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1698T>C;refseq.codonCoord=566;refseq.end=129844522;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1698;refseq.name=NM_139055;refseq.name2=ADAMTS15;refseq.positionType=CDS;refseq.proteinCoordStr=p.N566N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-23;refseq.start=129844522;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr11 129846165 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1861C>G;refseq.codonCoord=621;refseq.end=129846165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1861;refseq.name=NM_139055;refseq.name2=ADAMTS15;refseq.positionType=CDS;refseq.proteinCoordStr=p.R621G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-42;refseq.start=129846165;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr11 130255852 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=86.57;MQ0=6;OQ=1660.96;QD=9.66;RankSumP=0.130477;SB=-372.57;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2633T>G;refseq.codonCoord=878;refseq.end=130255852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3181;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.L878R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=60;refseq.start=130255852;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr11 130281734 . T C 314.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=95.04;MQ0=4;OQ=4856.02;QD=21.30;RankSumP=0.495194;SB=-1735.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.2258A>G;refseq.codonCoord=753;refseq.end=130281734;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2806;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.N753S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=130281734;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr11 130281823 . A G 173.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=3.61;MQ=95.12;MQ0=2;OQ=2755.01;QD=14.20;RankSumP=0.268425;SB=-847.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2169T>C;refseq.codonCoord=723;refseq.end=130281823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2717;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S723S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=130281823;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr11 130283096 . G A 280.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.87;MQ0=0;OQ=2694.62;QD=21.22;RankSumP=0.268033;SB=-1066.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.2127C>T;refseq.codonCoord=709;refseq.end=130283096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2675;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T709T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-39;refseq.start=130283096;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr11 130285225 . C T 240.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=13.91;MQ=98.85;MQ0=0;OQ=7949.90;QD=22.78;RankSumP=0.420824;SB=-2267.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1932G>A;refseq.codonCoord=644;refseq.end=130285225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2480;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P644P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=18;refseq.start=130285225;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 130285435 . C A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=92.59;MQ0=5;OQ=8329.93;QD=37.52;RankSumP=1.00000;SB=-2873.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1854G>T;refseq.codonCoord=618;refseq.end=130285435;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2402;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.L618F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=41;refseq.start=130285435;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr11 130289606 . G A 185.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=97.98;MQ0=0;OQ=8347.83;QD=21.57;RankSumP=0.381645;SB=-3168.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1439C>T;refseq.codonCoord=480;refseq.end=130289606;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P480L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-236;refseq.start=130289606;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr11 130289698 . A G 146.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=11.85;MQ=96.59;MQ0=0;OQ=5858.28;QD=15.42;RankSumP=0.0189025;SB=-1031.92;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1347T>C;refseq.codonCoord=449;refseq.end=130289698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1895;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.I449I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-328;refseq.start=130289698;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr11 130289826 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=9.23;MQ=90.51;MQ0=0;OQ=1886.91;QD=15.99;RankSumP=0.286035;SB=-849.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1219A>G;refseq.codonCoord=407;refseq.end=130289826;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1767;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S407G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-456;refseq.start=130289826;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr11 130289857 . G C 212.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=6.01;MQ=95.54;MQ0=0;OQ=2178.91;QD=17.57;RankSumP=0.233478;SB=-877.69;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1188C>G;refseq.codonCoord=396;refseq.end=130289857;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.D396E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-487;refseq.start=130289857;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr11 130289904 . C T 140.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=97.75;MQ0=0;OQ=2097.68;QD=14.77;RankSumP=0.478283;SB=-1028.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1141G>A;refseq.codonCoord=381;refseq.end=130289904;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.G381S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-534;refseq.start=130289904;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr11 130289917 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.11;MQ0=0;OQ=1974.31;QD=13.34;RankSumP=0.177519;SB=-951.82;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.1128G>A;refseq.codonCoord=376;refseq.end=130289917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P376P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-547;refseq.start=130289917;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr11 130289964 . C G 272.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=97.22;MQ0=0;OQ=2182.35;QD=17.60;RankSumP=0.493790;SB=-908.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.1081G>C;refseq.codonCoord=361;refseq.end=130289964;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1629;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.V361L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-594;refseq.start=130289964;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr11 130290181 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=147;Dels=0.00;HRun=2;HaplotypeScore=5.92;MQ=96.47;MQ0=0;OQ=2759.53;QD=18.77;RankSumP=0.459240;SB=-545.64;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.864G>C;refseq.codonCoord=288;refseq.end=130290181;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1412;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-811;refseq.start=130290181;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr11 130290415 . G A 138.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=94.64;MQ0=0;OQ=1580.83;QD=14.91;RankSumP=0.173356;SB=-771.20;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.630C>T;refseq.codonCoord=210;refseq.end=130290415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1178;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T210T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1045;refseq.start=130290415;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr11 130290514 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=3;HaplotypeScore=5.38;MQ=90.68;MQ0=0;OQ=2402.97;QD=12.99;RankSumP=0.173283;SB=-1214.43;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.531A>G;refseq.codonCoord=177;refseq.end=130290514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1079;refseq.name=NM_014758;refseq.name2=SNX19;refseq.positionType=CDS;refseq.proteinCoordStr=p.A177A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=1079;refseq.start=130290514;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr11 131682843 . A C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=248;Dels=0.00;HRun=2;HaplotypeScore=9.03;MQ=98.60;MQ0=0;OQ=8899.29;QD=35.88;RankSumP=1.00000;SB=-4159.24;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr11;refseq.chr_2=chr11;refseq.chr_3=chr11;refseq.chr_4=chr11;refseq.codingCoordStr_1=c.577A>C;refseq.codingCoordStr_2=c.577A>C;refseq.codingCoordStr_3=c.577A>C;refseq.codingCoordStr_4=c.577A>C;refseq.codonCoord_1=193;refseq.codonCoord_2=193;refseq.codonCoord_3=193;refseq.codonCoord_4=193;refseq.end_1=131682843;refseq.end_2=131682843;refseq.end_3=131682843;refseq.end_4=131682843;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=908;refseq.mrnaCoord_2=1241;refseq.mrnaCoord_3=1241;refseq.mrnaCoord_4=1241;refseq.name2_1=NTM;refseq.name2_2=NTM;refseq.name2_3=NTM;refseq.name2_4=NTM;refseq.name_1=NM_001048209;refseq.name_2=NM_001144058;refseq.name_3=NM_001144059;refseq.name_4=NM_016522;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R193R;refseq.proteinCoordStr_2=p.R193R;refseq.proteinCoordStr_3=p.R193R;refseq.proteinCoordStr_4=p.R193R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.start_1=131682843;refseq.start_2=131682843;refseq.start_3=131682843;refseq.start_4=131682843;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr11 133219732 . G A 156.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=2;HaplotypeScore=3.60;MQ=98.67;MQ0=0;OQ=5934.07;QD=19.33;RankSumP=0.345231;SB=-1778.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.149C>T;refseq.codonCoord=50;refseq.end=133219732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_174927;refseq.name2=SPATA19;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=14;refseq.start=133219732;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr11 133533541 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3927A>C;refseq.codonCoord=1309;refseq.end=133533541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4533;refseq.name=NM_015261;refseq.name2=NCAPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1309S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=60;refseq.start=133533541;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr11 133533554 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3914A>C;refseq.codonCoord=1305;refseq.end=133533554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4520;refseq.name=NM_015261;refseq.name2=NCAPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1305T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=47;refseq.start=133533554;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr11 133543128 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=712;Dels=0.00;HRun=1;HaplotypeScore=15.49;MQ=98.39;MQ0=0;OQ=14458.67;QD=20.31;RankSumP=0.256985;SB=-5450.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.3546G>A;refseq.codonCoord=1182;refseq.end=133543128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4152;refseq.name=NM_015261;refseq.name2=NCAPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1182Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-28;refseq.start=133543128;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr11 133543694 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.3253T>G;refseq.codonCoord=1085;refseq.end=133543694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3859;refseq.name=NM_015261;refseq.name2=NCAPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1085V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=14;refseq.start=133543694;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr11 133620571 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.888T>G;refseq.codonCoord=296;refseq.end=133620571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_052875;refseq.name2=VPS26B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G296G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=24;refseq.start=133620571;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr11 133632339 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=2.45844e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr11;refseq.codingCoordStr=c.358A>C;refseq.codonCoord=120;refseq.end=133632339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_014384;refseq.name2=ACAD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T120P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-23;refseq.start=133632339;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr11 133707246 . C T 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.14;MQ0=0;OQ=420.90;QD=24.76;RankSumP=0.276574;SB=-46.55;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr11;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=133707246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_138342;refseq.name2=GLB1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L27L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=133707246;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr12 118161 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=75.77;QD=12.63;RankSumP=0.500000;SB=-0.98;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1371G>A;refseq.codingCoordStr_2=c.462G>A;refseq.codonCoord_1=457;refseq.codonCoord_2=154;refseq.end_1=118161;refseq.end_2=118161;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1371;refseq.mrnaCoord_2=874;refseq.name2_1=IQSEC3;refseq.name2_2=IQSEC3;refseq.name_1=NM_001170738;refseq.name_2=NM_015232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E457E;refseq.proteinCoordStr_2=p.E154E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=468;refseq.spliceDist_2=468;refseq.start_1=118161;refseq.start_2=118161;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr12 118463 . C G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=155.45;QD=31.09;RankSumP=1.00000;SB=-97.94;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1673C>G;refseq.codingCoordStr_2=c.764C>G;refseq.codonCoord_1=558;refseq.codonCoord_2=255;refseq.end_1=118463;refseq.end_2=118463;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1673;refseq.mrnaCoord_2=1176;refseq.name2_1=IQSEC3;refseq.name2_2=IQSEC3;refseq.name_1=NM_001170738;refseq.name_2=NM_015232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A558G;refseq.proteinCoordStr_2=p.A255G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-319;refseq.spliceDist_2=-319;refseq.start_1=118463;refseq.start_2=118463;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=filterInsoap-gatk GT 1/1 chr12 176876 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1003T>G;refseq.codingCoordStr_2=c.1003T>G;refseq.codingCoordStr_3=c.1003T>G;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=335;refseq.end_1=176876;refseq.end_2=176876;refseq.end_3=176876;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1303;refseq.mrnaCoord_2=1429;refseq.mrnaCoord_3=1546;refseq.name2_1=SLC6A12;refseq.name2_2=SLC6A12;refseq.name2_3=SLC6A12;refseq.name_1=NM_001122847;refseq.name_2=NM_001122848;refseq.name_3=NM_003044;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F335V;refseq.proteinCoordStr_2=p.F335V;refseq.proteinCoordStr_3=p.F335V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=176876;refseq.start_2=176876;refseq.start_3=176876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=FilteredInAll GT 0/1 chr12 182210 . A G 353.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=2.04;MQ=98.84;MQ0=0;OQ=7787.62;QD=40.77;RankSumP=1.00000;SB=-2433.32;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.447T>C;refseq.codingCoordStr_2=c.447T>C;refseq.codingCoordStr_3=c.447T>C;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.codonCoord_3=149;refseq.end_1=182210;refseq.end_2=182210;refseq.end_3=182210;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=873;refseq.mrnaCoord_3=990;refseq.name2_1=SLC6A12;refseq.name2_2=SLC6A12;refseq.name2_3=SLC6A12;refseq.name_1=NM_001122847;refseq.name_2=NM_001122848;refseq.name_3=NM_003044;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T149T;refseq.proteinCoordStr_2=p.T149T;refseq.proteinCoordStr_3=p.T149T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.start_1=182210;refseq.start_2=182210;refseq.start_3=182210;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr12 189372 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.94;MQ0=0;OQ=1717.91;QD=11.30;RankSumP=0.215247;SB=-526.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.42A>G;refseq.codingCoordStr_2=c.42A>G;refseq.codingCoordStr_3=c.42A>G;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.codonCoord_3=14;refseq.end_1=189372;refseq.end_2=189372;refseq.end_3=189372;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=342;refseq.mrnaCoord_2=468;refseq.mrnaCoord_3=585;refseq.name2_1=SLC6A12;refseq.name2_2=SLC6A12;refseq.name2_3=SLC6A12;refseq.name_1=NM_001122847;refseq.name_2=NM_001122848;refseq.name_3=NM_003044;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A14A;refseq.proteinCoordStr_2=p.A14A;refseq.proteinCoordStr_3=p.A14A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.spliceDist_3=99;refseq.start_1=189372;refseq.start_2=189372;refseq.start_3=189372;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr12 189386 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=99.00;MQ0=0;OQ=1319.98;QD=10.64;RankSumP=0.281522;SB=-411.05;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.28T>C;refseq.codingCoordStr_2=c.28T>C;refseq.codingCoordStr_3=c.28T>C;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.end_1=189386;refseq.end_2=189386;refseq.end_3=189386;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=328;refseq.mrnaCoord_2=454;refseq.mrnaCoord_3=571;refseq.name2_1=SLC6A12;refseq.name2_2=SLC6A12;refseq.name2_3=SLC6A12;refseq.name_1=NM_001122847;refseq.name_2=NM_001122848;refseq.name_3=NM_003044;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C10R;refseq.proteinCoordStr_2=p.C10R;refseq.proteinCoordStr_3=p.C10R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.spliceDist_3=85;refseq.start_1=189386;refseq.start_2=189386;refseq.start_3=189386;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 0/1 chr12 417944 . T C 325.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=11.71;MQ=98.90;MQ0=0;OQ=3966.82;QD=17.71;RankSumP=0.407813;SB=-1569.90;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.908T>C;refseq.codingCoordStr_2=c.908T>C;refseq.codingCoordStr_3=c.908T>C;refseq.codingCoordStr_4=c.1004T>C;refseq.codonCoord_1=303;refseq.codonCoord_2=303;refseq.codonCoord_3=303;refseq.codonCoord_4=335;refseq.end_1=417944;refseq.end_2=417944;refseq.end_3=417944;refseq.end_4=417944;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1130;refseq.mrnaCoord_2=1157;refseq.mrnaCoord_3=1103;refseq.mrnaCoord_4=1184;refseq.name2_1=CCDC77;refseq.name2_2=CCDC77;refseq.name2_3=CCDC77;refseq.name2_4=CCDC77;refseq.name_1=NM_001130146;refseq.name_2=NM_001130147;refseq.name_3=NM_001130148;refseq.name_4=NM_032358;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M303T;refseq.proteinCoordStr_2=p.M303T;refseq.proteinCoordStr_3=p.M303T;refseq.proteinCoordStr_4=p.M335T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=-38;refseq.start_1=417944;refseq.start_2=417944;refseq.start_3=417944;refseq.start_4=417944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/0 chr12 527665 . G A 362.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=98.77;MQ0=0;OQ=5772.34;QD=18.10;RankSumP=0.388079;SB=-1734.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.794G>A;refseq.codonCoord=265;refseq.end=527665;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_173593;refseq.name2=B4GALNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R265Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=527665;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr12 531917 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=7.88;MQ=98.32;MQ0=0;OQ=1169.53;QD=16.95;RankSumP=0.128639;SB=-338.56;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1232A>G;refseq.codonCoord=411;refseq.end=531917;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1232;refseq.name=NM_173593;refseq.name2=B4GALNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K411R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=24;refseq.start=531917;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr12 532709 . T C 122.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=98.25;MQ0=0;OQ=4059.84;QD=29.63;RankSumP=1.00000;SB=-1294.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1359T>C;refseq.codonCoord=453;refseq.end=532709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_173593;refseq.name2=B4GALNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L453L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=89;refseq.start=532709;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr12 532857 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1507A>C;refseq.codonCoord=503;refseq.end=532857;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1507;refseq.name=NM_173593;refseq.name2=B4GALNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T503P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=237;refseq.start=532857;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 533099 . T C 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=95.27;MQ0=0;OQ=259.43;QD=16.21;RankSumP=0.456502;SB=-42.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1749T>C;refseq.codonCoord=583;refseq.end=533099;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1749;refseq.name=NM_173593;refseq.name2=B4GALNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P583P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-312;refseq.start=533099;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr12 733250 . T C 279.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.45;MQ0=0;OQ=1687.12;QD=35.90;RankSumP=1.00000;SB=-796.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.258T>C;refseq.codonCoord=86;refseq.end=733250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C86C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-502;refseq.start=733250;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr12 809563 . A G 328.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=6.12;MQ=98.83;MQ0=0;OQ=4638.36;QD=19.41;RankSumP=0.346330;SB=-1090.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1287A>G;refseq.codonCoord=429;refseq.end=809563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1794;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A429A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-25;refseq.start=809563;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr12 857743 . G A 276.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=4.53;MQ=98.60;MQ0=0;OQ=5659.55;QD=18.99;RankSumP=0.0224083;SB=-1482.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2328G>A;refseq.codonCoord=776;refseq.end=857743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2835;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q776Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-46;refseq.start=857743;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr12 859009 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2383T>C;refseq.codonCoord=795;refseq.end=859009;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2890;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S795P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=859009;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 859155 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=706;Dels=0.00;HRun=1;HaplotypeScore=25.71;MQ=98.81;MQ0=0;OQ=14702.72;QD=20.83;RankSumP=0.496608;SB=-5696.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2529G>A;refseq.codonCoord=843;refseq.end=859155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3036;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q843Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=156;refseq.start=859155;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr12 861173 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=703;Dels=0.00;HRun=3;HaplotypeScore=10.77;MQ=98.85;MQ0=0;OQ=28199.12;QD=40.11;RankSumP=1.00000;SB=-13241.86;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3166A>C;refseq.codonCoord=1056;refseq.end=861173;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3673;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1056P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-44;refseq.start=861173;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chr12 864748 . G C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=6.87;MQ=98.79;MQ0=0;OQ=12283.32;QD=48.55;RankSumP=1.00000;SB=-4743.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4517G>C;refseq.codonCoord=1506;refseq.end=864748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5024;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1506S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=673;refseq.start=864748;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr12 868626 . G T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=553;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.92;MQ0=0;OQ=21229.83;QD=38.39;RankSumP=1.00000;SB=-8114.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5424G>T;refseq.codonCoord=1808;refseq.end=868626;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5931;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1808I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-25;refseq.start=868626;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr12 887458 . C T 435.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=6823.88;QD=41.36;RankSumP=1.00000;SB=-1622.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6828C>T;refseq.codonCoord=2276;refseq.end=887458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7335;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2276Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=887458;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr12 888105 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.48013e-09;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.7035A>C;refseq.codonCoord=2345;refseq.end=888105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7542;refseq.name=NM_018979;refseq.name2=WNK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2345P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=204;refseq.start=888105;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 1573173 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=25.53;MQ=98.04;MQ0=0;OQ=2526.04;QD=10.61;RankSumP=0.251197;SB=-855.10;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.321G>A;refseq.codonCoord=107;refseq.end=1573173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_152441;refseq.name2=FBXL14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=420;refseq.start=1573173;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr12 1612278 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.274T>G;refseq.codingCoordStr_2=c.274T>G;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=1612278;refseq.end_2=1612278;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=457;refseq.name2_1=WNT5B;refseq.name2_2=WNT5B;refseq.name_1=NM_030775;refseq.name_2=NM_032642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W92G;refseq.proteinCoordStr_2=p.W92G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=1612278;refseq.start_2=1612278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 1619254 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=4;RankSumP=3.04151e-06;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.472T>G;refseq.codingCoordStr_2=c.472T>G;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.end_1=1619254;refseq.end_2=1619254;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=617;refseq.mrnaCoord_2=655;refseq.name2_1=WNT5B;refseq.name2_2=WNT5B;refseq.name_1=NM_030775;refseq.name_2=NM_032642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W158G;refseq.proteinCoordStr_2=p.W158G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=144;refseq.spliceDist_2=144;refseq.start_1=1619254;refseq.start_2=1619254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 1810616 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_2=c.322C>G;refseq.codingCoordStr_3=c.322C>G;refseq.codingCoordStr_4=c.322C>G;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.codonCoord_4=108;refseq.end_1=1820155;refseq.end_2=1810616;refseq.end_3=1810616;refseq.end_4=1810616;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1128;refseq.mrnaCoord_3=1164;refseq.mrnaCoord_4=1131;refseq.name2_1=CACNA2D4;refseq.name2_2=LRTM2;refseq.name2_3=LRTM2;refseq.name2_4=LRTM2;refseq.name_1=NM_172364;refseq.name_2=NM_001039029;refseq.name_3=NM_001163925;refseq.name_4=NM_001163926;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.P108A;refseq.proteinCoordStr_3=p.P108A;refseq.proteinCoordStr_4=p.P108A;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_2=255;refseq.spliceDist_3=255;refseq.spliceDist_4=255;refseq.start_1=1791161;refseq.start_2=1810616;refseq.start_3=1810616;refseq.start_4=1810616;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr12 1810775 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=98.51;MQ0=0;OQ=984.16;QD=10.81;RankSumP=0.143513;SB=-345.74;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_2=c.481G>A;refseq.codingCoordStr_3=c.481G>A;refseq.codingCoordStr_4=c.481G>A;refseq.codonCoord_2=161;refseq.codonCoord_3=161;refseq.codonCoord_4=161;refseq.end_1=1820155;refseq.end_2=1810775;refseq.end_3=1810775;refseq.end_4=1810775;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1287;refseq.mrnaCoord_3=1323;refseq.mrnaCoord_4=1290;refseq.name2_1=CACNA2D4;refseq.name2_2=LRTM2;refseq.name2_3=LRTM2;refseq.name2_4=LRTM2;refseq.name_1=NM_172364;refseq.name_2=NM_001039029;refseq.name_3=NM_001163925;refseq.name_4=NM_001163926;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D161N;refseq.proteinCoordStr_3=p.D161N;refseq.proteinCoordStr_4=p.D161N;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_2=-178;refseq.spliceDist_3=-178;refseq.spliceDist_4=-178;refseq.start_1=1791161;refseq.start_2=1810775;refseq.start_3=1810775;refseq.start_4=1810775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 1/0 chr12 2807813 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=3.68668e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.524T>G;refseq.codonCoord=175;refseq.end=2807813;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_031474;refseq.name2=NRIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V175G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=29;refseq.start=2807813;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr12 2814185 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=88;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.79;MQ0=0;OQ=1165.51;QD=13.24;RankSumP=0.269303;SB=-530.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.226C>T;refseq.codonCoord=76;refseq.end=2814185;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_031474;refseq.name2=NRIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R76*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-117;refseq.start=2814185;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chr12 2838719 . T C 339.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=3.27;MQ=98.51;MQ0=0;OQ=9898.94;QD=38.97;RankSumP=1.00000;SB=-3768.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1638A>G;refseq.codingCoordStr_2=c.1752A>G;refseq.codingCoordStr_3=c.1593A>G;refseq.codonCoord_1=546;refseq.codonCoord_2=584;refseq.codonCoord_3=531;refseq.end_1=2838719;refseq.end_2=2838719;refseq.end_3=2838719;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1903;refseq.mrnaCoord_2=2017;refseq.mrnaCoord_3=1858;refseq.name2_1=FOXM1;refseq.name2_2=FOXM1;refseq.name2_3=FOXM1;refseq.name_1=NM_021953;refseq.name_2=NM_202002;refseq.name_3=NM_202003;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R546R;refseq.proteinCoordStr_2=p.R584R;refseq.proteinCoordStr_3=p.R531R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=372;refseq.spliceDist_2=372;refseq.spliceDist_3=372;refseq.start_1=2838719;refseq.start_2=2838719;refseq.start_3=2838719;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr12 3257958 . T C 329.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=8.91;MQ=98.99;MQ0=0;OQ=7281.20;QD=17.21;RankSumP=0.461802;SB=-2481.77;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.174T>C;refseq.codingCoordStr_2=c.174T>C;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=3257958;refseq.end_2=3257958;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=290;refseq.mrnaCoord_2=357;refseq.name2_1=TSPAN9;refseq.name2_2=TSPAN9;refseq.name_1=NM_001168320;refseq.name_2=NM_006675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I58I;refseq.proteinCoordStr_2=p.I58I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=3257958;refseq.start_2=3257958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr12 3259862 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.67;MQ0=0;OQ=1291.57;QD=16.77;RankSumP=0.346694;SB=-652.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.384C>T;refseq.codingCoordStr_2=c.384C>T;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.end_1=3259862;refseq.end_2=3259862;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=500;refseq.mrnaCoord_2=567;refseq.name2_1=TSPAN9;refseq.name2_2=TSPAN9;refseq.name_1=NM_001168320;refseq.name_2=NM_006675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T128T;refseq.proteinCoordStr_2=p.T128T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=3259862;refseq.start_2=3259862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr12 3652908 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=99.00;MQ0=0;OQ=733.23;QD=9.05;RankSumP=0.0984279;SB=-334.61;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.636T>A;refseq.codingCoordStr_2=c.636T>A;refseq.codingCoordStr_3=c.636T>A;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.codonCoord_3=212;refseq.end_1=3652908;refseq.end_2=3652908;refseq.end_3=3652908;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1208;refseq.mrnaCoord_2=1208;refseq.mrnaCoord_3=1208;refseq.name2_1=EFCAB4B;refseq.name2_2=EFCAB4B;refseq.name2_3=EFCAB4B;refseq.name_1=NM_001144958;refseq.name_2=NM_001144959;refseq.name_3=NM_032680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H212Q;refseq.proteinCoordStr_2=p.H212Q;refseq.proteinCoordStr_3=p.H212Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=3652908;refseq.start_2=3652908;refseq.start_3=3652908;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr12 3652962 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.88;MQ0=0;OQ=1578.68;QD=11.36;RankSumP=0.0737098;SB=-497.56;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.582G>A;refseq.codingCoordStr_2=c.582G>A;refseq.codingCoordStr_3=c.582G>A;refseq.codonCoord_1=194;refseq.codonCoord_2=194;refseq.codonCoord_3=194;refseq.end_1=3652962;refseq.end_2=3652962;refseq.end_3=3652962;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1154;refseq.mrnaCoord_2=1154;refseq.mrnaCoord_3=1154;refseq.name2_1=EFCAB4B;refseq.name2_2=EFCAB4B;refseq.name2_3=EFCAB4B;refseq.name_1=NM_001144958;refseq.name_2=NM_001144959;refseq.name_3=NM_032680;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L194L;refseq.proteinCoordStr_2=p.L194L;refseq.proteinCoordStr_3=p.L194L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=3652962;refseq.start_2=3652962;refseq.start_3=3652962;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 0/1 chr12 4258345 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=3.95;MQ=98.58;MQ0=0;OQ=2670.06;QD=19.93;RankSumP=0.388906;SB=-532.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.570C>G;refseq.codonCoord=190;refseq.end=4258345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_001759;refseq.name2=CCND2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T190T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=4258345;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr12 4331955 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.650T>C;refseq.codonCoord=217;refseq.end=4331955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_020375;refseq.name2=C12orf5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L217S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=269;refseq.start=4331955;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr12 4331956 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=254;Dels=0.00;HRun=2;HaplotypeScore=27.33;MQ=98.15;MQ0=0;OQ=61.69;QD=0.24;RankSumP=0.00000;SB=399.28;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.651A>C;refseq.codonCoord=217;refseq.end=4331956;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=730;refseq.name=NM_020375;refseq.name2=C12orf5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L217F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=270;refseq.start=4331956;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr12 4423593 . A G 320.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.92;MQ0=0;OQ=4289.75;QD=16.89;RankSumP=0.291117;SB=-1083.71;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.417T>C;refseq.codonCoord=139;refseq.end=4423593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_020996;refseq.name2=FGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V139V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-34;refseq.start=4423593;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr12 4423644 . A G 236.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=98.92;MQ0=0;OQ=4288.42;QD=17.94;RankSumP=0.385933;SB=-1299.49;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.366T>C;refseq.codonCoord=122;refseq.end=4423644;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_020996;refseq.name2=FGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T122T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=20;refseq.start=4423644;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr12 4424809 . G C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=503;Dels=0.00;HRun=3;HaplotypeScore=15.94;MQ=98.64;MQ0=0;OQ=20320.45;QD=40.40;RankSumP=1.00000;SB=-7215.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.189C>G;refseq.codonCoord=63;refseq.end=4424809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_020996;refseq.name2=FGF6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A63A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-158;refseq.start=4424809;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr12 4570727 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr12;refseq.codingCoordStr=c.118+2;refseq.end=4570727;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_003845;refseq.name2=DYRK4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=4570727;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr12 4606652 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1677T>C;refseq.codonCoord=559;refseq.end=4606652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1906;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F559F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-730;refseq.start=4606652;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr12 4606756 . C T 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=12.00;MQ=98.88;MQ0=0;OQ=4149.07;QD=42.77;RankSumP=1.00000;SB=-1936.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1573G>A;refseq.codonCoord=525;refseq.end=4606756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1802;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E525K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-834;refseq.start=4606756;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr12 4606892 . A G 292.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=2264.40;QD=38.38;RankSumP=1.00000;SB=-969.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1437T>C;refseq.codonCoord=479;refseq.end=4606892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1666;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F479F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-970;refseq.start=4606892;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr12 4606938 . G C 251.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.71;MQ0=0;OQ=6468.65;QD=46.87;RankSumP=1.00000;SB=-1333.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1391C>G;refseq.codonCoord=464;refseq.end=4606938;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1620;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T464S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-1016;refseq.start=4606938;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr12 4606951 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=2;HaplotypeScore=0.81;MQ=98.73;MQ0=0;OQ=7754.91;QD=41.92;RankSumP=1.00000;SB=-1813.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1378T>C;refseq.codonCoord=460;refseq.end=4606951;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1607;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L460L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-1029;refseq.start=4606951;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 4607303 . G A 274.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.76;MQ0=0;OQ=15371.11;QD=40.99;RankSumP=1.00000;SB=-5310.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1026C>T;refseq.codonCoord=342;refseq.end=4607303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H342H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=930;refseq.start=4607303;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr12 4607579 . A G 276.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=5.90;MQ=98.95;MQ0=0;OQ=15463.24;QD=37.35;RankSumP=1.00000;SB=-5855.61;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.750T>C;refseq.codonCoord=250;refseq.end=4607579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N250N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=654;refseq.start=4607579;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr12 4607720 . C T 288.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=5.52;MQ=98.93;MQ0=0;OQ=13325.92;QD=42.30;RankSumP=1.00000;SB=-6306.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.609G>A;refseq.codonCoord=203;refseq.end=4607720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S203S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=513;refseq.start=4607720;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr12 4607976 . C T 271.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=98.70;MQ0=0;OQ=11849.86;QD=41.72;RankSumP=1.00000;SB=-4364.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.353G>A;refseq.codonCoord=118;refseq.end=4607976;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_006422;refseq.name2=AKAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G118E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=257;refseq.start=4607976;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr12 4700261 . T G 345.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.96;MQ0=0;OQ=4102.57;QD=17.76;RankSumP=0.157755;SB=-1340.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.157T>G;refseq.codonCoord=53;refseq.end=4700261;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_017417;refseq.name2=GALNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y53D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-55;refseq.start=4700261;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr12 4706143 . T G 142.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=13.44;MQ=98.44;MQ0=0;OQ=2505.78;QD=14.92;RankSumP=0.370591;SB=-420.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.396T>G;refseq.codonCoord=132;refseq.end=4706143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_017417;refseq.name2=GALNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L132L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-114;refseq.start=4706143;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr12 4743424 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=2;HaplotypeScore=9.29;MQ=98.69;MQ0=0;OQ=8633.92;QD=19.02;RankSumP=0.195235;SB=-2847.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1543G>T;refseq.codonCoord=515;refseq.end=4743424;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1635;refseq.name=NM_017417;refseq.name2=GALNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V515F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=46;refseq.start=4743424;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr12 4789528 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=95.68;MQ0=0;OQ=72.00;QD=3.60;RankSumP=0.456562;SB=-28.92;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.60A>G;refseq.codonCoord=20;refseq.end=4789528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_002235;refseq.name2=KCNA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G20G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=926;refseq.start=4789528;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr12 4891489 . T C 338.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=98.55;MQ0=0;OQ=7622.92;QD=20.71;RankSumP=0.195694;SB=-2459.46;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.684T>C;refseq.codonCoord=228;refseq.end=4891489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1789;refseq.name=NM_000217;refseq.name2=KCNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C228C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1223;refseq.start=4891489;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 4891609 . G C 175.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=373;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=98.70;MQ0=0;OQ=8309.05;QD=22.28;RankSumP=0.0878645;SB=-2585.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.804G>C;refseq.codonCoord=268;refseq.end=4891609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1909;refseq.name=NM_000217;refseq.name2=KCNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T268T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1343;refseq.start=4891609;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr12 4892245 . T A 217.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=98.74;MQ0=0;OQ=3112.65;QD=17.89;RankSumP=0.131116;SB=-1267.74;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1440T>A;refseq.codonCoord=480;refseq.end=4892245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2545;refseq.name=NM_000217;refseq.name2=KCNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T480T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1979;refseq.start=4892245;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr12 5023767 . C T 29.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=96.09;MQ0=0;QD=4.89;RankSumP=0.600000;SB=-39.53;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.193C>T;refseq.codonCoord=65;refseq.end=5023767;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_002234;refseq.name2=KCNA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R65W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=422;refseq.start=5023767;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr12 5023955 . C T 135.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.84;MQ0=0;OQ=1024.03;QD=19.32;RankSumP=0.591595;SB=-463.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.381C>T;refseq.codonCoord=127;refseq.end=5023955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_002234;refseq.name2=KCNA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S127S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=610;refseq.start=5023955;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr12 5024723 . T C 85.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=88.30;MQ0=1;OQ=2496.53;QD=30.08;RankSumP=1.00000;SB=-1035.76;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1149T>C;refseq.codonCoord=383;refseq.end=5024723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_002234;refseq.name2=KCNA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G383G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1378;refseq.start=5024723;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr12 5473893 . G A 277.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=96.92;MQ0=0;OQ=1152.15;QD=38.40;RankSumP=1.00000;SB=-549.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.291G>A;refseq.codingCoordStr_2=c.252G>A;refseq.codonCoord_1=97;refseq.codonCoord_2=84;refseq.end_1=5473893;refseq.end_2=5473893;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=502;refseq.mrnaCoord_2=335;refseq.name2_1=NTF3;refseq.name2_2=NTF3;refseq.name_1=NM_001102654;refseq.name_2=NM_002527;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P97P;refseq.proteinCoordStr_2=p.P84P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=273;refseq.spliceDist_2=335;refseq.start_1=5473893;refseq.start_2=5473893;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr12 5474196 . C T 191.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=667.87;QD=15.53;RankSumP=0.107321;SB=-196.23;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.594C>T;refseq.codingCoordStr_2=c.555C>T;refseq.codonCoord_1=198;refseq.codonCoord_2=185;refseq.end_1=5474196;refseq.end_2=5474196;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=805;refseq.mrnaCoord_2=638;refseq.name2_1=NTF3;refseq.name2_2=NTF3;refseq.name_1=NM_001102654;refseq.name_2=NM_002527;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P198P;refseq.proteinCoordStr_2=p.P185P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-531;refseq.spliceDist_2=-531;refseq.start_1=5474196;refseq.start_2=5474196;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr12 5961261 . A G 90.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=11.40;MQ=98.76;MQ0=0;OQ=7823.06;QD=34.92;RankSumP=1.00000;SB=-3618.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.7239T>C;refseq.codonCoord=2413;refseq.end=5961261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7489;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2413T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-49;refseq.start=5961261;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 5965045 . T C 168.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.87;MQ0=0;OQ=2373.27;QD=15.72;RankSumP=0.460318;SB=-886.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6846A>G;refseq.codonCoord=2282;refseq.end=5965045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7096;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2282T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=48;refseq.start=5965045;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr12 5991103 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.368873;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5783C>T;refseq.codonCoord=1928;refseq.end=5991103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6033;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1928L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-60;refseq.start=5991103;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr12 5998204 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=40.42;MQ0=43;OQ=87.43;QD=0.91;RankSumP=0.327785;SB=62.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4641T>C;refseq.codonCoord=1547;refseq.end=5998204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4891;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1547T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-413;refseq.start=5998204;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr12 5998704 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=41.78;MQ0=111;OQ=1537.52;QD=5.21;RankSumP=0.443469;SB=-602.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4141A>G;refseq.codonCoord=1381;refseq.end=5998704;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4391;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1381A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=467;refseq.start=5998704;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr12 6003206 . G C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.500000;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3231C>G;refseq.codonCoord=1077;refseq.end=6003206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3481;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1077P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=6003206;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr12 6008856 . C T 201.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.98;MQ0=0;OQ=1930.68;QD=14.30;RankSumP=0.238226;SB=-772.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2880G>A;refseq.codonCoord=960;refseq.end=6008856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3130;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R960R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=60;refseq.start=6008856;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr12 6014245 . T C 97.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.73;MQ0=0;OQ=3882.53;QD=35.95;RankSumP=1.00000;SB=-1528.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2555A>G;refseq.codonCoord=852;refseq.end=6014245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2805;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q852R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=6014245;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr12 6023775 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=18.12;MQ=98.36;MQ0=0;OQ=3044.45;QD=13.07;RankSumP=0.134177;SB=-1081.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2385T>C;refseq.codonCoord=795;refseq.end=6023775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2635;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y795Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-58;refseq.start=6023775;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr12 6023795 . T C 223.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.47;MQ0=0;OQ=2831.80;QD=14.02;RankSumP=0.313195;SB=-1204.46;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2365A>G;refseq.codonCoord=789;refseq.end=6023795;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2615;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.T789A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-78;refseq.start=6023795;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr12 6037457 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=98.32;MQ0=0;OQ=784.68;QD=11.89;RankSumP=0.343657;SB=-371.33;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1548T>C;refseq.codonCoord=516;refseq.end=6037457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1798;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y516Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=15;refseq.start=6037457;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr12 6042463 . T C 200.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=8.90;MQ=98.65;MQ0=0;OQ=6836.89;QD=33.85;RankSumP=1.00000;SB=-2176.54;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1451A>G;refseq.codonCoord=484;refseq.end=6042463;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1701;refseq.name=NM_000552;refseq.name2=VWF;refseq.positionType=CDS;refseq.proteinCoordStr=p.H484R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=19;refseq.start=6042463;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr12 6291756 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.39;MQ0=0;OQ=1028.69;QD=12.25;RankSumP=0.359119;SB=-167.16;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.103G>A;refseq.codingCoordStr_2=c.103G>A;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=6291756;refseq.end_2=6291756;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=333;refseq.mrnaCoord_2=251;refseq.name2_1=PLEKHG6;refseq.name2_2=PLEKHG6;refseq.name_1=NM_001144856;refseq.name_2=NM_018173;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A35T;refseq.proteinCoordStr_2=p.A35T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=6291756;refseq.start_2=6291756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr12 6297313 . C T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=96.15;MQ0=0;OQ=150.53;QD=12.54;RankSumP=0.0753968;SB=-46.65;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1047C>T;refseq.codingCoordStr_2=c.951C>T;refseq.codingCoordStr_3=c.1047C>T;refseq.codonCoord_1=349;refseq.codonCoord_2=317;refseq.codonCoord_3=349;refseq.end_1=6297313;refseq.end_2=6297313;refseq.end_3=6297313;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1277;refseq.mrnaCoord_2=1445;refseq.mrnaCoord_3=1195;refseq.name2_1=PLEKHG6;refseq.name2_2=PLEKHG6;refseq.name2_3=PLEKHG6;refseq.name_1=NM_001144856;refseq.name_2=NM_001144857;refseq.name_3=NM_018173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H349H;refseq.proteinCoordStr_2=p.H317H;refseq.proteinCoordStr_3=p.H349H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=6297313;refseq.start_2=6297313;refseq.start_3=6297313;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr12 6298516 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=9.29758e-07;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1505A>G;refseq.codingCoordStr_2=c.1409A>G;refseq.codingCoordStr_3=c.1505A>G;refseq.codonCoord_1=502;refseq.codonCoord_2=470;refseq.codonCoord_3=502;refseq.end_1=6298516;refseq.end_2=6298516;refseq.end_3=6298516;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1735;refseq.mrnaCoord_2=1903;refseq.mrnaCoord_3=1653;refseq.name2_1=PLEKHG6;refseq.name2_2=PLEKHG6;refseq.name2_3=PLEKHG6;refseq.name_1=NM_001144856;refseq.name_2=NM_001144857;refseq.name_3=NM_018173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E502G;refseq.proteinCoordStr_2=p.E470G;refseq.proteinCoordStr_3=p.E502G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=6298516;refseq.start_2=6298516;refseq.start_3=6298516;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr12 6321206 . T C 205.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=13.36;MQ=97.91;MQ0=0;OQ=4322.87;QD=15.22;RankSumP=0.00689044;SB=-944.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=6321206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_001065;refseq.name2=TNFRSF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P12P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=6321206;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr12 6327323 . T C 369.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1611.93;QD=37.49;RankSumP=1.00000;SB=-817.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1987A>G;refseq.codingCoordStr_2=c.2056A>G;refseq.codingCoordStr_3=c.2164A>G;refseq.codonCoord_1=663;refseq.codonCoord_2=686;refseq.codonCoord_3=722;refseq.end_1=6327323;refseq.end_2=6327323;refseq.end_3=6327323;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2276;refseq.mrnaCoord_2=2147;refseq.mrnaCoord_3=2428;refseq.name2_1=SCNN1A;refseq.name2_2=SCNN1A;refseq.name2_3=SCNN1A;refseq.name_1=NM_001038;refseq.name_2=NM_001159575;refseq.name_3=NM_001159576;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T663A;refseq.proteinCoordStr_2=p.T686A;refseq.proteinCoordStr_3=p.T722A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=358;refseq.spliceDist_2=358;refseq.spliceDist_3=358;refseq.start_1=6327323;refseq.start_2=6327323;refseq.start_3=6327323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr12 6341512 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.841G>C;refseq.codingCoordStr_2=c.910G>C;refseq.codingCoordStr_3=c.1018G>C;refseq.codonCoord_1=281;refseq.codonCoord_2=304;refseq.codonCoord_3=340;refseq.end_1=6341512;refseq.end_2=6341512;refseq.end_3=6341512;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1130;refseq.mrnaCoord_2=1001;refseq.mrnaCoord_3=1282;refseq.name2_1=SCNN1A;refseq.name2_2=SCNN1A;refseq.name2_3=SCNN1A;refseq.name_1=NM_001038;refseq.name_2=NM_001159575;refseq.name_3=NM_001159576;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A281P;refseq.proteinCoordStr_2=p.A304P;refseq.proteinCoordStr_3=p.A340P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.start_1=6341512;refseq.start_2=6341512;refseq.start_3=6341512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr12 6365536 . C A 150.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=3.56;MQ=98.23;MQ0=0;OQ=1141.83;QD=12.98;RankSumP=0.304788;SB=-590.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.516C>A;refseq.codonCoord=172;refseq.end=6365536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_002342;refseq.name2=LTBR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=44;refseq.start=6365536;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr12 6370366 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=2.01;MQ=99.00;MQ0=0;OQ=809.60;QD=9.75;RankSumP=0.100131;SB=-318.74;SecondBestBaseQ=32;refseq.chr=chr12;refseq.codingCoordStr=c.*2T>G;refseq.end=6370366;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=1478;refseq.name=NM_002342;refseq.name2=LTBR;refseq.positionType=utr3;refseq.spliceDist=280;refseq.start=6370366;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr12 6424889 . G A 233.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=98.26;MQ0=0;OQ=2413.26;QD=22.98;RankSumP=0.447822;SB=-1219.26;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.175G>A;refseq.codonCoord_2=59;refseq.end_1=6426377;refseq.end_2=6424889;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=386;refseq.name2_1=LOC678655;refseq.name2_2=CD27;refseq.name_1=NR_015382;refseq.name_2=NM_001242;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A59T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=39;refseq.start_1=6423155;refseq.start_2=6424889;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr12 6430734 . A G 308.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=2046.62;QD=35.29;RankSumP=1.00000;SB=-692.27;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.698A>G;refseq.codonCoord_2=233;refseq.end_1=6430734;refseq.end_2=6430734;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=211;refseq.mrnaCoord_2=909;refseq.name2_1=LOC678655;refseq.name2_2=CD27;refseq.name_1=NR_015382;refseq.name_2=NM_001242;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H233R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=211;refseq.spliceDist_2=40;refseq.start_1=6430734;refseq.start_2=6430734;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr12 6432546 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=4.92;MQ=97.19;MQ0=0;OQ=454.23;QD=11.95;RankSumP=0.664194;SB=-199.24;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.117C>T;refseq.codonCoord=39;refseq.end=6432546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C39C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=53;refseq.start=6432546;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr12 6432554 . C T 155.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=97.78;MQ0=0;OQ=567.97;QD=14.20;RankSumP=0.591322;SB=-237.91;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.125C>T;refseq.codonCoord=42;refseq.end=6432554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A42V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=61;refseq.start=6432554;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 6433014 . A G 319.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.65;MQ0=0;OQ=8807.78;QD=37.64;RankSumP=1.00000;SB=-4377.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.436A>G;refseq.codonCoord=146;refseq.end=6433014;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.M146V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-130;refseq.start=6433014;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 6433071 . A G 370.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.29;MQ0=0;OQ=4930.58;QD=34.24;RankSumP=1.00000;SB=-2001.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.493A>G;refseq.codonCoord=165;refseq.end=6433071;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T165A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-73;refseq.start=6433071;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 6433084 . C T 271.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=98.21;MQ0=0;OQ=2077.65;QD=16.11;RankSumP=0.118840;SB=-738.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.506C>T;refseq.codonCoord=169;refseq.end=6433084;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=744;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-60;refseq.start=6433084;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 6433097 . G A 228.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=5.62;MQ=98.11;MQ0=0;OQ=2123.82;QD=16.86;RankSumP=0.0188469;SB=-1000.55;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.519G>A;refseq.codonCoord=173;refseq.end=6433097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_018009;refseq.name2=TAPBPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P173P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-47;refseq.start=6433097;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 6445305 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.91;MQ0=0;OQ=2946.37;QD=13.39;RankSumP=0.0372669;SB=-1219.27;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.252C>A;refseq.codingCoordStr_2=c.252C>A;refseq.codingCoordStr_3=c.252C>A;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.end_1=6445305;refseq.end_2=6445305;refseq.end_3=6445305;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=398;refseq.mrnaCoord_3=398;refseq.name2_1=VAMP1;refseq.name2_2=VAMP1;refseq.name2_3=VAMP1;refseq.name_1=NM_014231;refseq.name_2=NM_016830;refseq.name_3=NM_199245;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A84A;refseq.proteinCoordStr_2=p.A84A;refseq.proteinCoordStr_3=p.A84A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=6445305;refseq.start_2=6445305;refseq.start_3=6445305;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr12 6489545 . C G 177.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.81;MQ0=0;OQ=2824.00;QD=15.52;RankSumP=0.498261;SB=-1073.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.247C>G;refseq.codonCoord=83;refseq.end=6489545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q83E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-16;refseq.start=6489545;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr12 6489663 . T C 275.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=4.24;MQ=98.80;MQ0=0;OQ=7107.15;QD=19.16;RankSumP=0.324115;SB=-1938.87;SecondBestBaseQ=33;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.end_1=6490045;refseq.end_2=6489663;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=15;refseq.name2_1=NCAPD2;refseq.name2_2=SCARNA10;refseq.name_1=NM_014865;refseq.name_2=NR_004387;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=15;refseq.start_1=6489571;refseq.start_2=6489663;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr12 6493707 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.603T>G;refseq.codonCoord=201;refseq.end=6493707;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C201W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=16;refseq.start=6493707;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 6501430 . C A 208.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=422;Dels=0.00;HRun=1;HaplotypeScore=7.94;MQ=98.88;MQ0=0;OQ=7141.00;QD=16.92;RankSumP=0.293402;SB=-2149.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1920C>A;refseq.codonCoord=640;refseq.end=6501430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1966;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I640I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-35;refseq.start=6501430;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr12 6508106 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.37;MQ0=0;OQ=464.58;QD=10.56;RankSumP=0.285196;SB=-71.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3300T>C;refseq.codonCoord=1100;refseq.end=6508106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3346;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1100R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=6508106;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr12 6509349 . A G 105.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=6.86;MQ=98.51;MQ0=0;OQ=7063.92;QD=21.47;RankSumP=0.0360729;SB=-2753.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3801A>G;refseq.codonCoord=1267;refseq.end=6509349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3847;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1267V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-37;refseq.start=6509349;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 6510242 . C G 219.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=13.00;MQ=98.74;MQ0=0;OQ=2425.96;QD=15.16;RankSumP=0.409099;SB=-1092.89;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3962C>G;refseq.codonCoord=1321;refseq.end=6510242;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4008;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1321S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=6510242;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr12 6510357 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3974A>C;refseq.codonCoord=1325;refseq.end=6510357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4020;refseq.name=NM_014865;refseq.name2=NCAPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1325S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=6510357;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 6516581 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=96.29;MQ0=0;OQ=2072.23;QD=12.87;RankSumP=0.0374524;SB=-586.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.381T>C;refseq.codonCoord=127;refseq.end=6516581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_002046;refseq.name2=GAPDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.D127D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=54;refseq.start=6516581;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr12 6517370 . T C 337.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=9.67;MQ=96.17;MQ0=0;OQ=4360.04;QD=17.37;RankSumP=0.303375;SB=-1534.01;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.885T>C;refseq.codonCoord=295;refseq.end=6517370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_002046;refseq.name2=GAPDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.F295F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-54;refseq.start=6517370;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr12 6581408 . C A 217.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.70;MQ0=0;OQ=1097.80;QD=17.43;RankSumP=0.180670;SB=-244.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.417G>T;refseq.codonCoord=139;refseq.end=6581408;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_001273;refseq.name2=CHD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E139D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-22;refseq.start=6581408;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr12 6624752 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.370T>C;refseq.codonCoord=124;refseq.end=6624752;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_032489;refseq.name2=ACRBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S124P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=13;refseq.start=6624752;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 6754910 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.992A>C;refseq.codonCoord=331;refseq.end=6754910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_002286;refseq.name2=LAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y331S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-66;refseq.start=6754910;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 6754912 . A C 99 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=79;Dels=0.00;HRun=2;HaplotypeScore=13.03;MQ=96.07;MQ0=0;QD=0.33;RankSumP=6.41313e-06;SB=62.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.994A>C;refseq.codonCoord=332;refseq.end=6754912;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_002286;refseq.name2=LAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T332P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-64;refseq.start=6754912;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 6757281 . T C 157.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=7.07;MQ=98.86;MQ0=0;OQ=5884.86;QD=17.89;RankSumP=0.325770;SB=-1949.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1364T>C;refseq.codonCoord=455;refseq.end=6757281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1713;refseq.name=NM_002286;refseq.name2=LAG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I455T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=64;refseq.start=6757281;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr12 6794370 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=2;HaplotypeScore=1.94;MQ=97.95;MQ0=0;OQ=2044.75;QD=22.47;RankSumP=0.359174;SB=-883.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.558C>T;refseq.codonCoord=186;refseq.end=6794370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_000616;refseq.name2=CD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V186V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-50;refseq.start=6794370;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr12 6795600 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.725C>G;refseq.codonCoord=242;refseq.end=6795600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_000616;refseq.name2=CD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A242G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=118;refseq.start=6795600;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 6796624 . T C 187.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.48;MQ0=0;OQ=1114.39;QD=21.03;RankSumP=0.404560;SB=-392.33;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1023T>C;refseq.codonCoord=341;refseq.end=6796624;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_000616;refseq.name2=CD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S341S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=68;refseq.start=6796624;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr12 6798325 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1330A>C;refseq.codonCoord=444;refseq.end=6798325;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1575;refseq.name=NM_000616;refseq.name2=CD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T444P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-17;refseq.start=6798325;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 6798336 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=3.66;MQ=97.35;MQ0=0;OQ=1994.95;QD=15.96;RankSumP=0.123674;SB=-447.30;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1341T>C;refseq.codonCoord=447;refseq.end=6798336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1586;refseq.name=NM_000616;refseq.name2=CD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C447C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=6798336;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 6806238 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=430.11;QD=21.51;RankSumP=0.556710;SB=-200.35;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.523A>G;refseq.codingCoordStr_2=c.1375A>G;refseq.codonCoord_1=175;refseq.codonCoord_2=459;refseq.end_1=6806238;refseq.end_2=6806238;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=908;refseq.mrnaCoord_2=1910;refseq.name2_1=GPR162;refseq.name2_2=GPR162;refseq.name_1=NM_014449;refseq.name_2=NM_019858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R175G;refseq.proteinCoordStr_2=p.R459G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=160;refseq.spliceDist_2=160;refseq.start_1=6806238;refseq.start_2=6806238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr12 6823353 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.649A>C;refseq.codonCoord=217;refseq.end=6823353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1054;refseq.name=NM_002075;refseq.name2=GNB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T217P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-51;refseq.start=6823353;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 6835818 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.527T>G;refseq.codingCoordStr_2=c.527T>G;refseq.codonCoord_1=176;refseq.codonCoord_2=176;refseq.end_1=6835818;refseq.end_2=6835818;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=580;refseq.name2_1=USP5;refseq.name2_2=USP5;refseq.name_1=NM_001098536;refseq.name_2=NM_003481;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V176G;refseq.proteinCoordStr_2=p.V176G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=6835818;refseq.start_2=6835818;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 6836139 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.592A>G;refseq.codingCoordStr_2=c.592A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.end_1=6836139;refseq.end_2=6836139;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=651;refseq.mrnaCoord_2=645;refseq.name2_1=USP5;refseq.name2_2=USP5;refseq.name_1=NM_001098536;refseq.name_2=NM_003481;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K198E;refseq.proteinCoordStr_2=p.K198E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=6836139;refseq.start_2=6836139;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT 0/1 chr12 6840900 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=5.96257e-08;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1531C>A;refseq.codingCoordStr_2=c.1531C>A;refseq.codonCoord_1=511;refseq.codonCoord_2=511;refseq.end_1=6840900;refseq.end_2=6840900;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1590;refseq.mrnaCoord_2=1584;refseq.name2_1=USP5;refseq.name2_2=USP5;refseq.name_1=NM_001098536;refseq.name_2=NM_003481;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q511K;refseq.proteinCoordStr_2=p.Q511K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=6840900;refseq.start_2=6840900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr12 6901186 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1047G>C;refseq.codonCoord=349;refseq.end=6901186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_001975;refseq.name2=ENO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S349S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-21;refseq.start=6901186;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 6916152 . A G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0536886;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1461A>G;refseq.codingCoordStr_2=c.1461A>G;refseq.codonCoord_1=487;refseq.codonCoord_2=487;refseq.end_1=6916152;refseq.end_2=6916152;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1698;refseq.mrnaCoord_2=1691;refseq.name2_1=ATN1;refseq.name2_2=ATN1;refseq.name_1=NM_001007026;refseq.name_2=NM_001940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q487Q;refseq.proteinCoordStr_2=p.Q487Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-834;refseq.spliceDist_2=-834;refseq.start_1=6916152;refseq.start_2=6916152;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 0/1 chr12 6916200 . T G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.134106;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1509T>G;refseq.codingCoordStr_2=c.1509T>G;refseq.codonCoord_1=503;refseq.codonCoord_2=503;refseq.end_1=6916200;refseq.end_2=6916200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1746;refseq.mrnaCoord_2=1739;refseq.name2_1=ATN1;refseq.name2_2=ATN1;refseq.name_1=NM_001007026;refseq.name_2=NM_001940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H503Q;refseq.proteinCoordStr_2=p.H503Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-786;refseq.spliceDist_2=-786;refseq.start_1=6916200;refseq.start_2=6916200;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 1/0 chr12 6917404 . C A 42.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.27;MQ0=0;QD=14.08;RankSumP=1.00000;SB=-43.39;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2430C>A;refseq.codingCoordStr_2=c.2430C>A;refseq.codonCoord_1=810;refseq.codonCoord_2=810;refseq.end_1=6917404;refseq.end_2=6917404;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2667;refseq.mrnaCoord_2=2660;refseq.name2_1=ATN1;refseq.name2_2=ATN1;refseq.name_1=NM_001007026;refseq.name_2=NM_001940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R810R;refseq.proteinCoordStr_2=p.R810R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=6917404;refseq.start_2=6917404;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=FilteredInAll GT 1/1 chr12 6921192 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.11136e-07;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.3561C>A;refseq.codingCoordStr_2=c.3561C>A;refseq.codonCoord_1=1187;refseq.codonCoord_2=1187;refseq.end_1=6921192;refseq.end_2=6921192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3798;refseq.mrnaCoord_2=3791;refseq.name2_1=ATN1;refseq.name2_2=ATN1;refseq.name_1=NM_001007026;refseq.name_2=NM_001940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1187E;refseq.proteinCoordStr_2=p.D1187E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=6921192;refseq.start_2=6921192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr12 6934693 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.633+2;refseq.codingCoordStr_2=c.639+2;refseq.codingCoordStr_3=c.633+2;refseq.end_1=6934693;refseq.end_2=6934693;refseq.end_3=6934693;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=PTPN6;refseq.name2_2=PTPN6;refseq.name2_3=PTPN6;refseq.name_1=NM_002831;refseq.name_2=NM_080548;refseq.name_3=NM_080549;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=6934693;refseq.start_2=6934693;refseq.start_3=6934693;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr12 6935896 . T C 312.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.34;MQ0=0;OQ=4355.67;QD=36.30;RankSumP=1.00000;SB=-1887.11;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.978T>C;refseq.codingCoordStr_2=c.984T>C;refseq.codingCoordStr_3=c.978T>C;refseq.codonCoord_1=326;refseq.codonCoord_2=328;refseq.codonCoord_3=326;refseq.end_1=6935896;refseq.end_2=6935896;refseq.end_3=6935896;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=1133;refseq.mrnaCoord_3=1220;refseq.name2_1=PTPN6;refseq.name2_2=PTPN6;refseq.name2_3=PTPN6;refseq.name_1=NM_002831;refseq.name_2=NM_080548;refseq.name_3=NM_080549;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G326G;refseq.proteinCoordStr_2=p.G328G;refseq.proteinCoordStr_3=p.G326G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=6935896;refseq.start_2=6935896;refseq.start_3=6935896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr12 7140740 . C T 415.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.82;MQ0=0;OQ=5392.46;QD=39.65;RankSumP=1.00000;SB=-1214.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.853G>A;refseq.codonCoord=285;refseq.end=7140740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_016546;refseq.name2=C1RL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V285I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=162;refseq.start=7140740;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 7168510 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=417;Dels=0.00;HRun=1;HaplotypeScore=37.99;MQ=98.89;MQ0=0;OQ=6792.35;QD=16.29;RankSumP=0.228013;SB=-232.66;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.343A>T;refseq.codonCoord=115;refseq.end=7168510;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_031491;refseq.name2=RBP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M115L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-12;refseq.start=7168510;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr12 7194463 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2302C>G;refseq.codonCoord=768;refseq.end=7194463;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2580;refseq.name=NM_014718;refseq.name2=CLSTN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R768G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=57;refseq.start=7194463;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr12 7401291 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4338T>C;refseq.codonCoord=1446;refseq.end=7401291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4364;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1446L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-49;refseq.start=7401291;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 0/1 chr12 7418778 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3010A>C;refseq.codonCoord=1004;refseq.end=7418778;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3036;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1004P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=7418778;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 7419738 . G A 214.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.88;MQ0=0;OQ=3998.11;QD=19.31;RankSumP=0.186794;SB=-1013.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2511C>T;refseq.codonCoord=837;refseq.end=7419738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2537;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N837N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=140;refseq.start=7419738;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr12 7423052 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2160A>G;refseq.codonCoord=720;refseq.end=7423052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2186;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G720G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=110;refseq.start=7423052;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 7442289 . A T 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=852;Dels=0.00;HRun=0;HaplotypeScore=12.13;MQ=98.82;MQ0=0;OQ=33038.09;QD=38.78;RankSumP=1.00000;SB=-16195.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1567T>A;refseq.codonCoord=523;refseq.end=7442289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1593;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L523M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=159;refseq.start=7442289;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/1 chr12 7442317 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=729;Dels=0.00;HRun=0;HaplotypeScore=11.07;MQ=98.95;MQ0=0;OQ=29918.85;QD=41.04;RankSumP=1.00000;SB=-12834.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1539T>G;refseq.codonCoord=513;refseq.end=7442317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1565;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V513V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=131;refseq.start=7442317;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 7476514 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=303;Dels=0.00;HRun=4;HaplotypeScore=15.41;MQ=98.86;MQ0=0;OQ=5472.17;QD=18.06;RankSumP=0.173782;SB=-1300.46;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.531A>G;refseq.codonCoord=177;refseq.end=7476514;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G177G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=86;refseq.start=7476514;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr12 7477238 . A G 337.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=11.09;MQ=98.68;MQ0=0;OQ=8215.01;QD=18.50;RankSumP=0.345526;SB=-1573.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.444T>C;refseq.codonCoord=148;refseq.end=7477238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y148Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=7477238;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr12 7477284 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=591;Dels=0.00;HRun=2;HaplotypeScore=39.88;MQ=98.32;MQ0=0;OQ=236.96;QD=0.40;RankSumP=0.00000;SB=883.98;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.398G>A;refseq.codonCoord=133;refseq.end=7477284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_174941;refseq.name2=CD163L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G133E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-48;refseq.start=7477284;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr12 7540751 . T C 295.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=98.76;MQ0=0;OQ=10535.43;QD=41.48;RankSumP=1.00000;SB=-3840.23;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1024A>G;refseq.codingCoordStr_2=c.1024A>G;refseq.codonCoord_1=342;refseq.codonCoord_2=342;refseq.end_1=7540751;refseq.end_2=7540751;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1152;refseq.mrnaCoord_2=1152;refseq.name2_1=CD163;refseq.name2_2=CD163;refseq.name_1=NM_004244;refseq.name_2=NM_203416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I342V;refseq.proteinCoordStr_2=p.I342V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=7540751;refseq.start_2=7540751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr12 7540920 . T C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=541;Dels=0.00;HRun=2;HaplotypeScore=4.05;MQ=98.57;MQ0=0;OQ=21969.81;QD=40.61;RankSumP=1.00000;SB=-7697.23;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.855A>G;refseq.codingCoordStr_2=c.855A>G;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=7540920;refseq.end_2=7540920;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=983;refseq.mrnaCoord_2=983;refseq.name2_1=CD163;refseq.name2_2=CD163;refseq.name_1=NM_004244;refseq.name_2=NM_203416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G285G;refseq.proteinCoordStr_2=p.G285G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=7540920;refseq.start_2=7540920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr12 7545291 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.168T>G;refseq.codingCoordStr_2=c.168T>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.end_1=7545291;refseq.end_2=7545291;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=296;refseq.name2_1=CD163;refseq.name2_2=CD163;refseq.name_1=NM_004244;refseq.name_2=NM_203416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G56G;refseq.proteinCoordStr_2=p.G56G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=7545291;refseq.start_2=7545291;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 7546404 . A G 224.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1371.06;QD=39.17;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.70T>C;refseq.codingCoordStr_2=c.70T>C;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=7546404;refseq.end_2=7546404;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=198;refseq.mrnaCoord_2=198;refseq.name2_1=CD163;refseq.name2_2=CD163;refseq.name_1=NM_004244;refseq.name_2=NM_203416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L24L;refseq.proteinCoordStr_2=p.L24L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=7546404;refseq.start_2=7546404;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr12 7694913 . G A 260.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.73;MQ0=0;OQ=2716.78;QD=15.09;RankSumP=0.187302;SB=-1260.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.534C>T;refseq.codonCoord=178;refseq.end=7694913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_001644;refseq.name2=APOBEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y178Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-28;refseq.start=7694913;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr12 7696503 . C G 176.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=5589.15;QD=47.77;RankSumP=1.00000;SB=-952.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.240G>C;refseq.codonCoord=80;refseq.end=7696503;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_001644;refseq.name2=APOBEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M80I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=196;refseq.start=7696503;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 7734199 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.98;MQ0=0;OQ=1941.33;QD=20.01;RankSumP=0.348812;SB=-454.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.637G>A;refseq.codonCoord=213;refseq.end=7734199;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=673;refseq.name=NM_020634;refseq.name2=GDF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G213R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=369;refseq.start=7734199;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr12 7785323 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=518;Dels=0.00;HRun=1;HaplotypeScore=8.75;MQ=97.56;MQ0=0;OQ=9987.37;QD=19.28;RankSumP=0.0124959;SB=-4032.24;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.196C>T;refseq.codingCoordStr_2=c.103C>T;refseq.codonCoord_1=66;refseq.codonCoord_2=35;refseq.end_1=7785323;refseq.end_2=7785323;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=687;refseq.mrnaCoord_2=594;refseq.name2_1=CLEC4C;refseq.name2_2=CLEC4C;refseq.name_1=NM_130441;refseq.name_2=NM_203503;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P66S;refseq.proteinCoordStr_2=p.P35S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=7785323;refseq.start_2=7785323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr12 7833524 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0554458;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.47C>A;refseq.codonCoord=16;refseq.end=7833524;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A16E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-105;refseq.start=7833524;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr12 7836826 . T C 143.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=2;HaplotypeScore=5.04;MQ=81.91;MQ0=58;OQ=7143.31;QD=18.08;RankSumP=0.190724;SB=-2207.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.165T>C;refseq.codonCoord=55;refseq.end=7836826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P55P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=14;refseq.start=7836826;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr12 7836886 . A G 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.458419;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.225A>G;refseq.codonCoord=75;refseq.end=7836886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=441;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.K75K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=74;refseq.start=7836886;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr12 7836907 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=68.12;MQ0=20;OQ=1605.61;QD=9.12;RankSumP=0.133530;SB=-31.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.246G>T;refseq.codonCoord=82;refseq.end=7836907;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.K82N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=95;refseq.start=7836907;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 7836937 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.16;MQ0=29;OQ=929.00;QD=10.10;RankSumP=0.430666;SB=-143.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.276G>A;refseq.codonCoord=92;refseq.end=7836937;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P92P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=125;refseq.start=7836937;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 7838571 rs4012939 T C 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=9.40;MQ=26.89;MQ0=41;OQ=228.70;QD=1.02;SB=77.82;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.531T>C;refseq.codonCoord=177;refseq.end=7838571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_024865;refseq.name2=NANOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L177L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=30;refseq.start=7838571;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:161,64:159:-74.03,-47.88,-621.41:99 chr12 7858225 . C T 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=6.68;MQ=23.96;MQ0=354;OQ=1878.96;QD=4.00;RankSumP=0.627717;SB=-443.44;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1517G>A;refseq.codonCoord=506;refseq.end=7858225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1634;refseq.name=NM_153449;refseq.name2=SLC2A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G506E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=173;refseq.start=7858225;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr12 7858343 . A G 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=42.04;MQ0=31;OQ=1921.41;QD=9.85;RankSumP=0.155295;SB=-839.65;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1399T>C;refseq.codonCoord=467;refseq.end=7858343;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1516;refseq.name=NM_153449;refseq.name2=SLC2A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L467L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=55;refseq.start=7858343;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 7965322 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=967;Dels=0.00;HRun=2;HaplotypeScore=25.91;MQ=35.32;MQ0=267;OQ=158.52;QD=0.16;RankSumP=0.386775;SB=660.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1445A>G;refseq.codonCoord=482;refseq.end=7965322;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1707;refseq.name=NM_006931;refseq.name2=SLC2A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E482G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=173;refseq.start=7965322;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr12 7965459 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=43.21;MQ0=20;OQ=2022.88;QD=13.14;RankSumP=0.656237;SB=-771.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1308C>T;refseq.codonCoord=436;refseq.end=7965459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_006931;refseq.name2=SLC2A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T436T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=36;refseq.start=7965459;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr12 7973634 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=7.35;MQ=53.93;MQ0=73;OQ=1721.03;QD=6.97;RankSumP=0.346806;SB=26.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.774A>G;refseq.codonCoord=258;refseq.end=7973634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_006931;refseq.name2=SLC2A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L258L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-88;refseq.start=7973634;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr12 8088691 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=28.99;MQ=97.76;MQ0=0;OQ=2460.42;QD=11.13;RankSumP=0.491894;SB=-176.41;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.687C>G;refseq.codonCoord=229;refseq.end=8088691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1772;refseq.name=NM_018416;refseq.name2=FOXJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P229P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=69;refseq.start=8088691;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr12 8103772 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.277T>G;refseq.codonCoord=93;refseq.end=8103772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_004054;refseq.name2=C3AR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F93V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=287;refseq.start=8103772;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr12 8134124 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.263C>T;refseq.codonCoord_2=88;refseq.end_1=8134124;refseq.end_2=8134124;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=341;refseq.mrnaCoord_2=341;refseq.name2_1=NECAP1;refseq.name2_2=NECAP1;refseq.name_1=NR_024260;refseq.name_2=NM_015509;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S88F;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=8134124;refseq.start_2=8134124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr12 8169448 . A T 303.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=10072.16;QD=41.11;RankSumP=1.00000;SB=-4287.47;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.107A>T;refseq.codingCoordStr_4=c.107A>T;refseq.codonCoord_3=36;refseq.codonCoord_4=36;refseq.end_1=8173116;refseq.end_2=8179437;refseq.end_3=8169448;refseq.end_4=8169448;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=354;refseq.mrnaCoord_4=354;refseq.name2_1=CLEC4A;refseq.name2_2=CLEC4A;refseq.name2_3=CLEC4A;refseq.name2_4=CLEC4A;refseq.name_1=NM_194447;refseq.name_2=NM_194448;refseq.name_3=NM_016184;refseq.name_4=NM_194450;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.H36L;refseq.proteinCoordStr_4=p.H36L;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_3=25;refseq.spliceDist_4=25;refseq.start_1=8167834;refseq.start_2=8167834;refseq.start_3=8169448;refseq.start_4=8169448;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/1 chr12 8218195 . G C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.373055;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.19G>C;refseq.codonCoord=7;refseq.end=8218195;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=91;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V7L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=8218195;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr12 8218239 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.380476;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.63G>A;refseq.codonCoord=21;refseq.end=8218239;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W21*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=51;refseq.start=8218239;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr12 8218283 . T C 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.128533;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.107T>C;refseq.codonCoord=36;refseq.end=8218283;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=179;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M36T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-33;refseq.start=8218283;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 1/0 chr12 8218315 . G A 47.25 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1531;Dels=0.00;HRun=0;HaplotypeScore=32.50;MQ=1.14;MQ0=1528;QD=0.03;SB=-6.99;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.139G>A;refseq.codonCoord=47;refseq.end=8218315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G47R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=8218315;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1438,91:3:-8.91,-0.90,-3.90:29.93 chr12 8219108 . T G 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.264336;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.157T>G;refseq.codonCoord=53;refseq.end=8219108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S53A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=18;refseq.start=8219108;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr12 8219155 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=678;Dels=0.00;HRun=2;HaplotypeScore=115.03;MQ=7.86;MQ0=551;OQ=288.71;QD=0.43;RankSumP=0.683315;SB=-10.00;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.204A>G;refseq.codonCoord=68;refseq.end=8219155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E68E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-32;refseq.start=8219155;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 0/1 chr12 8219163 . A T 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.172653;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.212A>T;refseq.codonCoord=71;refseq.end=8219163;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E71V;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-24;refseq.start=8219163;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr12 8219186 . G A 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.750000;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.235G>A;refseq.codonCoord=79;refseq.end=8219186;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D79N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=8219186;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr12 8219747 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.145739;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.260A>C;refseq.codonCoord=87;refseq.end=8219747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K87T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=25;refseq.start=8219747;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr12 8220919 . A G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=570;Dels=0.00;HRun=0;HaplotypeScore=32.14;MQ=47.07;MQ0=382;OQ=6173.65;QD=10.83;RankSumP=1.00000;SB=-2461.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.376A>G;refseq.codonCoord=126;refseq.end=8220919;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T126A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=58;refseq.start=8220919;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 8220943 . C T 64.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=563;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=53.94;MQ0=276;OQ=8863.12;QD=15.74;RankSumP=1.00000;SB=-3587.19;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.400C>T;refseq.codonCoord=134;refseq.end=8220943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R134C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=82;refseq.start=8220943;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr12 8220967 . A C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=13.82;MQ=67.86;MQ0=169;OQ=13356.57;QD=24.37;RankSumP=1.00000;SB=-5907.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.424A>C;refseq.codonCoord=142;refseq.end=8220967;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K142Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=106;refseq.start=8220967;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr12 8221100 . G A 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=6.30;MQ=27.53;MQ0=252;OQ=1544.29;QD=5.22;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.557G>A;refseq.codonCoord=186;refseq.end=8221100;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R186H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=239;refseq.start=8221100;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr12 8221241 . G A 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.698G>A;refseq.codonCoord=233;refseq.end=8221241;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C233Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=380;refseq.start=8221241;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT 1/0 chr12 8221250 . C T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.547619;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.707C>T;refseq.codonCoord=236;refseq.end=8221250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=779;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A236V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=389;refseq.start=8221250;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 0/1 chr12 8221273 . C T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.730C>T;refseq.codonCoord=244;refseq.end=8221273;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R244*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=412;refseq.start=8221273;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 0/1 chr12 8221274 . G A 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.536364;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.731G>A;refseq.codonCoord=244;refseq.end=8221274;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R244Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=413;refseq.start=8221274;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr12 8221308 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.297533;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.765T>C;refseq.codonCoord=255;refseq.end=8221308;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C255C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=447;refseq.start=8221308;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr12 8221334 . C A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.605263;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.791C>A;refseq.codonCoord=264;refseq.end=8221334;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=473;refseq.start=8221334;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr12 8221395 . T C 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.421643;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=8221395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=924;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H284H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=534;refseq.start=8221395;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr12 8221401 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.125676;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.858T>C;refseq.codonCoord=286;refseq.end=8221401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C286C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=540;refseq.start=8221401;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr12 8221435 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.560084;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.892G>A;refseq.codonCoord=298;refseq.end=8221435;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_001004328;refseq.name2=ZNF705A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D298N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=574;refseq.start=8221435;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr12 8266037 . G A 186.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.43;MQ=79.41;MQ0=0;OQ=1571.93;QD=34.17;RankSumP=1.00000;SB=-538.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1043C>T;refseq.codonCoord=348;refseq.end=8266037;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1602;refseq.name=NM_018088;refseq.name2=FAM90A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T348I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=611;refseq.start=8266037;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=filterInsoap-gatk GT 1/1 chr12 8266078 . C G 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.166667;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1002G>C;refseq.codonCoord=334;refseq.end=8266078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1561;refseq.name=NM_018088;refseq.name2=FAM90A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P334P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=570;refseq.start=8266078;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 8266081 . A G 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.500000;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.999T>C;refseq.codonCoord=333;refseq.end=8266081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_018088;refseq.name2=FAM90A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P333P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=567;refseq.start=8266081;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 8267377 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=218;Dels=0.00;HRun=2;HaplotypeScore=18.27;MQ=69.23;MQ0=10;OQ=4823.82;QD=22.13;RankSumP=1.00000;SB=-1301.74;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.367A>G;refseq.codonCoord=123;refseq.end=8267377;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_018088;refseq.name2=FAM90A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R123G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=44;refseq.start=8267377;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr12 8501805 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.76A>G;refseq.codonCoord=26;refseq.end=8501805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=193;refseq.name=NM_001007033;refseq.name2=CLEC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I26V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=45;refseq.start=8501805;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr12 8817278 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=697;Dels=0.00;HRun=1;HaplotypeScore=21.66;MQ=95.10;MQ0=7;OQ=28387.38;QD=40.73;RankSumP=1.00000;SB=-10306.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.792T>C;refseq.codonCoord=264;refseq.end=8817278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2054;refseq.name=NM_020734;refseq.name2=RIMKLB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D264D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=95;refseq.start=8817278;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 8887023 . A G 309.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=7.60;MQ=98.55;MQ0=0;OQ=7740.62;QD=21.80;RankSumP=0.357179;SB=-1571.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1275A>G;refseq.codonCoord=425;refseq.end=8887023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1373;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V425V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=27;refseq.start=8887023;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 8895779 . G A 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=27.60;MQ=98.68;MQ0=0;OQ=23785.62;QD=39.78;RankSumP=1.00000;SB=-7417.39;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2367G>A;refseq.codonCoord=789;refseq.end=8895779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2465;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P789P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-97;refseq.start=8895779;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr12 8896159 . C A 308.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=98.79;MQ0=0;OQ=3991.10;QD=38.38;RankSumP=1.00000;SB=-1940.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2550C>A;refseq.codonCoord=850;refseq.end=8896159;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2648;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D850E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-41;refseq.start=8896159;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr12 8901087 . G A 179.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=16.19;MQ=98.78;MQ0=0;OQ=2579.97;QD=15.27;RankSumP=0.184530;SB=-1199.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2909G>A;refseq.codonCoord=970;refseq.end=8901087;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3007;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C970Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=61;refseq.start=8901087;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr12 8901938 . G A 164.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.50;MQ0=0;OQ=2467.12;QD=15.42;RankSumP=0.144967;SB=-36.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3237G>A;refseq.codonCoord=1079;refseq.end=8901938;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3335;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1079V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-28;refseq.start=8901938;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr12 8907723 . C T 102.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=301;Dels=0.00;HRun=0;HaplotypeScore=9.63;MQ=98.75;MQ0=0;OQ=5602.44;QD=18.61;RankSumP=0.0822177;SB=-2165.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3569C>T;refseq.codonCoord=1190;refseq.end=8907723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3667;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1190V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=67;refseq.start=8907723;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 8907840 . A G 21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=26.13;MQ=97.86;MQ0=0;OQ=4394.72;QD=25.40;RankSumP=1.00000;SB=-364.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3686A>G;refseq.codonCoord=1229;refseq.end=8907840;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3784;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1229R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-32;refseq.start=8907840;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 8911756 . A G 192.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=8.24;MQ=98.82;MQ0=0;OQ=7781.20;QD=15.32;RankSumP=0.324956;SB=-3114.26;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3769A>G;refseq.codonCoord=1257;refseq.end=8911756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3867;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1257V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=52;refseq.start=8911756;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr12 8912179 . A G 374.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.70;MQ0=0;OQ=8140.66;QD=40.50;RankSumP=1.00000;SB=-3959.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4020A>G;refseq.codonCoord=1340;refseq.end=8912179;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4118;refseq.name=NM_144670;refseq.name2=A2ML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1340Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-42;refseq.start=8912179;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr12 8961633 . T A 287.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=87.46;MQ0=14;OQ=3620.01;QD=33.83;RankSumP=1.00000;SB=-1472.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.93T>A;refseq.codonCoord=31;refseq.end=8961633;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_004426;refseq.name2=PHC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L31L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-22;refseq.start=8961633;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr12 8965526 . C T 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=10.58;MQ=76.78;MQ0=74;OQ=7968.50;QD=28.26;RankSumP=1.00000;SB=-2627.71;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.369C>T;refseq.codonCoord=123;refseq.end=8965526;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_004426;refseq.name2=PHC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P123P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=63;refseq.start=8965526;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr12 8974603 . A G 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=70.66;MQ0=2;OQ=128.51;QD=21.42;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.918A>G;refseq.codonCoord=306;refseq.end=8974603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_004426;refseq.name2=PHC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R306R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-188;refseq.start=8974603;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr12 8976719 . C A 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.329340;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1399C>A;refseq.codonCoord=467;refseq.end=8976719;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_004426;refseq.name2=PHC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q467K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=294;refseq.start=8976719;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 1/0 chr12 8978165 . A G 225.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=403;Dels=0.00;HRun=0;HaplotypeScore=7.49;MQ=76.08;MQ0=22;OQ=13701.96;QD=34.00;RankSumP=1.00000;SB=-3753.46;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2077A>G;refseq.codonCoord=693;refseq.end=8978165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2233;refseq.name=NM_004426;refseq.name2=PHC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T693A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=36;refseq.start=8978165;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 9033564 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=20.93;MQ=98.82;MQ0=0;OQ=17941.59;QD=37.15;RankSumP=1.00000;SB=-8026.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=9033564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_005810;refseq.name2=KLRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y22Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-17;refseq.start=9033564;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr12 9052915 . T C 140.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.80;MQ0=0;OQ=2217.56;QD=13.12;RankSumP=0.436938;SB=-732.58;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.435T>C;refseq.codonCoord=145;refseq.end=9052915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_005810;refseq.name2=KLRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D145D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-24;refseq.start=9052915;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr12 9194563 . A T 152.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.93;MQ0=0;OQ=5230.98;QD=16.93;RankSumP=0.0728200;SB=-1933.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4328T>A;refseq.codonCoord=1443;refseq.end=9194563;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4357;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1443N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=47;refseq.start=9194563;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 9196740 . T C 351.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=9.89;MQ=98.82;MQ0=0;OQ=8105.02;QD=20.62;RankSumP=0.349316;SB=-2519.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4068A>G;refseq.codonCoord=1356;refseq.end=9196740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4097;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1356Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-54;refseq.start=9196740;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr12 9198640 . T G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=3;HaplotypeScore=1.74;MQ=88.75;MQ0=8;OQ=7106.01;QD=37.20;RankSumP=1.00000;SB=-3408.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3613A>C;refseq.codonCoord=1205;refseq.end=9198640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3642;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1205P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=63;refseq.start=9198640;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr12 9206476 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=98.55;MQ0=0;OQ=8573.16;QD=22.80;RankSumP=0.356267;SB=-3644.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2772T>C;refseq.codonCoord=924;refseq.end=9206476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2801;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S924S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-17;refseq.start=9206476;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr12 9208040 . T C 336.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=98.86;MQ0=0;OQ=5350.96;QD=19.18;RankSumP=0.252465;SB=-1152.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2570A>G;refseq.codonCoord=857;refseq.end=9208040;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2599;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N857S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-45;refseq.start=9208040;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr12 9209152 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=64.42;MQ0=24;OQ=869.51;QD=6.30;RankSumP=0.333703;SB=-258.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2337C>T;refseq.codonCoord=779;refseq.end=9209152;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2366;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S779S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=79;refseq.start=9209152;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr12 9236471 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1386T>G;refseq.codonCoord=462;refseq.end=9236471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1415;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G462G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-97;refseq.start=9236471;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 9236540 . A G 265.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=98.85;MQ0=0;OQ=14281.76;QD=38.60;RankSumP=1.00000;SB=-6108.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1317T>C;refseq.codonCoord=439;refseq.end=9236540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1346;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G439G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=63;refseq.start=9236540;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr12 9238059 . G C 175.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=11.42;MQ=98.68;MQ0=0;OQ=9077.48;QD=24.87;RankSumP=0.0201116;SB=-3017.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1135C>G;refseq.codonCoord=379;refseq.end=9238059;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_002864;refseq.name2=PZP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L379V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=43;refseq.start=9238059;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr12 9283357 . A C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.368132;SecondBestBaseQ=33;set=FilteredInAll GT 0/1 chr12 9283361 . A G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.294415;SecondBestBaseQ=28;set=FilteredInAll GT 0/1 chr12 9283394 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.370131;SecondBestBaseQ=32;set=soap GT 0/1 chr12 9724791 . C G 221.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=99.00;MQ0=0;OQ=2809.83;QD=20.07;RankSumP=0.370918;SB=-468.92;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.67C>G;refseq.codingCoordStr_2=c.67C>G;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=9724791;refseq.end_2=9724791;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=89;refseq.mrnaCoord_2=89;refseq.name2_1=CLEC2D;refseq.name2_2=CLEC2D;refseq.name_1=NM_001004419;refseq.name_2=NM_013269;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L23V;refseq.proteinCoordStr_2=p.L23V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=9724791;refseq.start_2=9724791;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr12 9724895 . C T 273.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=98.76;MQ0=0;OQ=2795.64;QD=16.74;RankSumP=0.247128;SB=-632.61;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.171C>T;refseq.codingCoordStr_2=c.171C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=9724895;refseq.end_2=9724895;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=193;refseq.mrnaCoord_2=193;refseq.name2_1=CLEC2D;refseq.name2_2=CLEC2D;refseq.name_1=NM_001004419;refseq.name_2=NM_013269;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S57S;refseq.proteinCoordStr_2=p.S57S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=9724895;refseq.start_2=9724895;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr12 9776980 . A T 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.201102;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.148T>A;refseq.codonCoord=50;refseq.end=9776980;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_172004;refseq.name2=CLECL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y50N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=148;refseq.start=9776980;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr12 9877182 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=3.72;MQ=98.64;MQ0=0;OQ=2213.57;QD=14.47;RankSumP=0.192543;SB=-855.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.201G>T;refseq.codonCoord=67;refseq.end=9877182;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_016523;refseq.name2=KLRF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L67F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=17;refseq.start=9877182;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr12 9885715 . T G 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.595238;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.375T>G;refseq.codonCoord=125;refseq.end=9885715;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_016523;refseq.name2=KLRF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C125W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=41;refseq.start=9885715;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 1/0 chr12 10023206 . C T 95.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.94;MQ0=0;OQ=197.63;QD=21.96;RankSumP=0.539394;SB=-91.31;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.195C>T;refseq.codingCoordStr_2=c.96C>T;refseq.codonCoord_1=65;refseq.codonCoord_2=32;refseq.end_1=10023206;refseq.end_2=10023206;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=284;refseq.name2_1=CLEC12A;refseq.name2_2=CLEC12A;refseq.name_1=NM_138337;refseq.name_2=NM_201623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H65H;refseq.proteinCoordStr_2=p.H32H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=10023206;refseq.start_2=10023206;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr12 10028824 . A C 16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=120.60;QD=7.09;RankSumP=0.268132;SB=-48.55;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.730A>C;refseq.codingCoordStr_2=c.631A>C;refseq.codonCoord_1=244;refseq.codonCoord_2=211;refseq.end_1=10028824;refseq.end_2=10028824;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=918;refseq.mrnaCoord_2=819;refseq.name2_1=CLEC12A;refseq.name2_2=CLEC12A;refseq.name_1=NM_138337;refseq.name_2=NM_201623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K244Q;refseq.proteinCoordStr_2=p.K211Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.start_1=10028824;refseq.start_2=10028824;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=filterInsoap-gatk GT 0/1 chr12 10041118 . C T 363.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=5832.05;QD=43.20;RankSumP=1.00000;SB=-1033.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.92G>A;refseq.codingCoordStr_2=c.191G>A;refseq.codonCoord_1=31;refseq.codonCoord_2=64;refseq.end_1=10041118;refseq.end_2=10041118;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=292;refseq.mrnaCoord_2=391;refseq.name2_1=CLEC1B;refseq.name2_2=CLEC1B;refseq.name_1=NM_001099431;refseq.name_2=NM_016509;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G31D;refseq.proteinCoordStr_2=p.G64D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=10041118;refseq.start_2=10041118;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr12 10042241 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=8.24;MQ=88.14;MQ0=1;OQ=2619.43;QD=13.10;RankSumP=0.368005;SB=-671.68;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.70T>C;refseq.codonCoord_2=24;refseq.end_1=10042892;refseq.end_2=10042241;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=270;refseq.name2_1=CLEC1B;refseq.name2_2=CLEC1B;refseq.name_1=NM_001099431;refseq.name_2=NM_016509;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S24P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=10041156;refseq.start_2=10042241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr12 10042909 . T C 270.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=97.33;MQ0=0;OQ=18537.76;QD=38.54;RankSumP=1.00000;SB=-4664.07;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.58A>G;refseq.codingCoordStr_2=c.58A>G;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=10042909;refseq.end_2=10042909;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=258;refseq.mrnaCoord_2=258;refseq.name2_1=CLEC1B;refseq.name2_2=CLEC1B;refseq.name_1=NM_001099431;refseq.name_2=NM_016509;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I20V;refseq.proteinCoordStr_2=p.I20V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=10042909;refseq.start_2=10042909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr12 10054642 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=99.00;MQ0=0;OQ=1010.08;QD=10.98;RankSumP=0.463367;SB=-300.29;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.17C>A;refseq.codingCoordStr_2=c.17C>A;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=10054642;refseq.end_2=10054642;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=145;refseq.mrnaCoord_2=145;refseq.name2_1=CLEC12B;refseq.name2_2=CLEC12B;refseq.name_1=NM_001129998;refseq.name_2=NM_205852;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T6N;refseq.proteinCoordStr_2=p.T6N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=10054642;refseq.start_2=10054642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr12 10054646 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=1184.90;QD=12.34;RankSumP=0.468853;SB=-414.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.21C>T;refseq.codingCoordStr_2=c.21C>T;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=10054646;refseq.end_2=10054646;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=149;refseq.mrnaCoord_2=149;refseq.name2_1=CLEC12B;refseq.name2_2=CLEC12B;refseq.name_1=NM_001129998;refseq.name_2=NM_205852;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y7Y;refseq.proteinCoordStr_2=p.Y7Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=10054646;refseq.start_2=10054646;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr12 10056736 . A G 287.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=98.64;MQ0=0;OQ=17002.81;QD=38.73;RankSumP=1.00000;SB=-5278.38;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.177A>G;refseq.codingCoordStr_2=c.177A>G;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=10056736;refseq.end_2=10056736;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=305;refseq.mrnaCoord_2=305;refseq.name2_1=CLEC12B;refseq.name2_2=CLEC12B;refseq.name_1=NM_001129998;refseq.name_2=NM_205852;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T59T;refseq.proteinCoordStr_2=p.T59T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=10056736;refseq.start_2=10056736;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr12 10058544 . G C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.93;MQ0=0;OQ=16271.78;QD=49.46;RankSumP=1.00000;SB=-7462.59;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.346G>C;refseq.codingCoordStr_2=c.346G>C;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.end_1=10058544;refseq.end_2=10058544;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=474;refseq.mrnaCoord_2=474;refseq.name2_1=CLEC12B;refseq.name2_2=CLEC12B;refseq.name_1=NM_001129998;refseq.name_2=NM_205852;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V116L;refseq.proteinCoordStr_2=p.V116L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=10058544;refseq.start_2=10058544;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr12 10098192 . A G 221.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=98.86;MQ0=0;OQ=4530.92;QD=18.96;RankSumP=0.480203;SB=-1043.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.147A>G;refseq.codonCoord=49;refseq.end=10098192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_207345;refseq.name2=CLEC9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T49T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-26;refseq.start=10098192;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr12 10142712 . C G 161.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=9.69;MQ=98.19;MQ0=0;OQ=5751.49;QD=40.22;RankSumP=1.00000;SB=-2558.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.77G>C;refseq.codonCoord=26;refseq.end=10142712;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=161;refseq.name=NM_016511;refseq.name2=CLEC1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G26A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-39;refseq.start=10142712;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 10162322 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=2;HaplotypeScore=10.15;MQ=98.76;MQ0=0;OQ=14697.88;QD=41.76;RankSumP=1.00000;SB=-6785.04;SecondBestBaseQ=0;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.codingCoordStr_1=c.*2A>G;refseq.codingCoordStr_2=c.*2A>G;refseq.codingCoordStr_3=c.*57A>G;refseq.codingCoordStr_4=c.*57A>G;refseq.codingCoordStr_5=c.*2A>G;refseq.end_1=10162322;refseq.end_2=10162322;refseq.end_3=10162322;refseq.end_4=10162322;refseq.end_5=10162322;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.mrnaCoord_1=795;refseq.mrnaCoord_2=933;refseq.mrnaCoord_3=814;refseq.mrnaCoord_4=676;refseq.mrnaCoord_5=696;refseq.name2_1=CLEC7A;refseq.name2_2=CLEC7A;refseq.name2_3=CLEC7A;refseq.name2_4=CLEC7A;refseq.name2_5=CLEC7A;refseq.name_1=NM_022570;refseq.name_2=NM_197947;refseq.name_3=NM_197948;refseq.name_4=NM_197949;refseq.name_5=NM_197950;refseq.numMatchingRecords=5;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.positionType_5=utr3;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.spliceDist_4=135;refseq.spliceDist_5=135;refseq.start_1=10162322;refseq.start_2=10162322;refseq.start_3=10162322;refseq.start_4=10162322;refseq.start_5=10162322;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;set=Intersection GT 1/1 chr12 10351952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.7+2;refseq.codingCoordStr_2=c.7+2;refseq.codingCoordStr_3=c.7+2;refseq.end_1=10351952;refseq.end_2=10351952;refseq.end_3=10351952;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=KLRD1;refseq.name2_2=KLRD1;refseq.name2_3=KLRD1;refseq.name_1=NM_001114396;refseq.name_2=NM_002262;refseq.name_3=NM_007334;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=10351952;refseq.start_2=10351952;refseq.start_3=10351952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr12 10353319 . T G 351.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.61;MQ0=0;OQ=9436.13;QD=41.21;RankSumP=1.00000;SB=-3183.45;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_2=c.73T>G;refseq.codingCoordStr_3=c.73T>G;refseq.codonCoord_2=25;refseq.codonCoord_3=25;refseq.end_1=10353481;refseq.end_2=10353319;refseq.end_3=10353319;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=270;refseq.mrnaCoord_3=333;refseq.name2_1=KLRD1;refseq.name2_2=KLRD1;refseq.name2_3=KLRD1;refseq.name_1=NM_007334;refseq.name_2=NM_001114396;refseq.name_3=NM_002262;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S25A;refseq.proteinCoordStr_3=p.S25A;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=10351961;refseq.start_2=10353319;refseq.start_3=10353319;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr12 10417007 . C T 282.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.87;MQ0=0;OQ=16805.38;QD=42.33;RankSumP=1.00000;SB=-6173.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.624G>A;refseq.codonCoord=208;refseq.end=10417007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_007360;refseq.name2=KLRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T208T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=91;refseq.start=10417007;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 10423593 . T C 239.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.46;MQ0=0;OQ=11276.67;QD=42.39;RankSumP=1.00000;SB=-5552.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.214A>G;refseq.codonCoord=72;refseq.end=10423593;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_007360;refseq.name2=KLRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-28;refseq.start=10423593;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr12 10452224 . T C 300.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.81;MQ0=0;OQ=4364.05;QD=43.21;RankSumP=1.00000;SB=-1649.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.311A>G;refseq.codonCoord=104;refseq.end=10452224;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_013431;refseq.name2=KLRC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N104S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=25;refseq.start=10452224;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr12 10453292 . C T 225.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=97.86;MQ0=0;OQ=15004.69;QD=43.75;RankSumP=1.00000;SB=-6271.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.150G>A;refseq.codonCoord=50;refseq.end=10453292;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_013431;refseq.name2=KLRC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S50S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-38;refseq.start=10453292;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr12 10453356 . A C 288.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=93.73;MQ0=1;OQ=12227.56;QD=37.05;RankSumP=1.00000;SB=-4723.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.86T>G;refseq.codonCoord=29;refseq.end=10453356;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_013431;refseq.name2=KLRC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I29S;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-102;refseq.start=10453356;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr12 10462232 . C G 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=92.18;MQ0=9;OQ=21028.13;QD=49.25;RankSumP=1.00000;SB=-5857.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.464G>C;refseq.codingCoordStr_2=c.464G>C;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.end_1=10462232;refseq.end_2=10462232;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=509;refseq.mrnaCoord_2=509;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C155S;refseq.proteinCoordStr_2=p.C155S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=10462232;refseq.start_2=10462232;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr12 10462309 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=636;Dels=0.00;HRun=0;HaplotypeScore=17.34;MQ=66.06;MQ0=283;OQ=13914.53;QD=21.88;RankSumP=1.00000;SB=-5034.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.387T>C;refseq.codingCoordStr_2=c.387T>C;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.end_1=10462309;refseq.end_2=10462309;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=432;refseq.mrnaCoord_2=432;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y129Y;refseq.proteinCoordStr_2=p.Y129Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=10462309;refseq.start_2=10462309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr12 10462358 . T G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=619;Dels=0.00;HRun=1;HaplotypeScore=9.98;MQ=48.63;MQ0=415;OQ=8443.53;QD=13.64;RankSumP=1.00000;SB=-2154.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.338A>C;refseq.codingCoordStr_2=c.338A>C;refseq.codonCoord_1=113;refseq.codonCoord_2=113;refseq.end_1=10462358;refseq.end_2=10462358;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=383;refseq.mrnaCoord_2=383;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H113P;refseq.proteinCoordStr_2=p.H113P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=10462358;refseq.start_2=10462358;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr12 10464249 . A G 167.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.08;MQ0=2;OQ=13082.36;QD=42.07;RankSumP=1.00000;SB=-4888.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.168T>C;refseq.codingCoordStr_2=c.168T>C;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.end_1=10464249;refseq.end_2=10464249;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=213;refseq.mrnaCoord_2=213;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D56D;refseq.proteinCoordStr_2=p.D56D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=10464249;refseq.start_2=10464249;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr12 10464361 . C G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=45.88;MQ0=98;OQ=1916.49;QD=11.76;RankSumP=1.00000;SB=-5.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.56G>C;refseq.codingCoordStr_2=c.56G>C;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=10464361;refseq.end_2=10464361;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=101;refseq.mrnaCoord_2=101;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W19S;refseq.proteinCoordStr_2=p.W19S;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=10464361;refseq.start_2=10464361;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr12 10464362 . A G 130.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=42.61;MQ0=98;OQ=2190.31;QD=13.60;RankSumP=1.00000;SB=-684.19;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.55T>C;refseq.codingCoordStr_2=c.55T>C;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=10464362;refseq.end_2=10464362;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=100;refseq.mrnaCoord_2=100;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W19R;refseq.proteinCoordStr_2=p.W19R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=10464362;refseq.start_2=10464362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr12 10464412 . C T 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=1.08;MQ=30.91;MQ0=72;OQ=196.32;QD=0.85;RankSumP=1.00000;SB=134.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.5G>A;refseq.codingCoordStr_2=c.5G>A;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.end_1=10464412;refseq.end_2=10464412;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=50;refseq.mrnaCoord_2=50;refseq.name2_1=KLRC3;refseq.name2_2=KLRC3;refseq.name_1=NM_002261;refseq.name_2=NM_007333;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2N;refseq.proteinCoordStr_2=p.S2N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=10464412;refseq.start_2=10464412;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=soap-filterIngatk GT 1/1 chr12 10478378 . A G 140.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=28.14;MQ0=58;OQ=8518.69;QD=31.79;RankSumP=1.00000;SB=-3565.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.305T>C;refseq.codonCoord=102;refseq.end=10478378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_002260;refseq.name2=KLRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F102S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=19;refseq.start=10478378;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr12 10479797 . C G 113.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=481;Dels=0.00;HRun=1;HaplotypeScore=3.73;MQ=30.70;MQ0=74;OQ=9772.19;QD=20.32;RankSumP=0.0661016;SB=-2561.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.56G>C;refseq.codonCoord=19;refseq.end=10479797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=63;refseq.name=NM_002260;refseq.name2=KLRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R19P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=63;refseq.start=10479797;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr12 10479848 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=27.52;MQ0=106;OQ=192.89;QD=0.58;RankSumP=0.258108;SB=169.04;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5A>G;refseq.codonCoord=2;refseq.end=10479848;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12;refseq.name=NM_002260;refseq.name2=KLRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=12;refseq.start=10479848;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chr12 10494937 . T C 386.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.81;MQ0=0;OQ=7559.43;QD=36.52;RankSumP=1.00000;SB=-2679.50;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.86A>G;refseq.codingCoordStr_2=c.86A>G;refseq.codingCoordStr_3=c.86A>G;refseq.codingCoordStr_4=c.86A>G;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.codonCoord_3=29;refseq.codonCoord_4=29;refseq.end_1=10494937;refseq.end_2=10494937;refseq.end_3=10494937;refseq.end_4=10494937;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=300;refseq.mrnaCoord_3=474;refseq.mrnaCoord_4=474;refseq.name2_1=KLRC1;refseq.name2_2=KLRC1;refseq.name2_3=KLRC1;refseq.name2_4=KLRC1;refseq.name_1=NM_002259;refseq.name_2=NM_007328;refseq.name_3=NM_213657;refseq.name_4=NM_213658;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N29S;refseq.proteinCoordStr_2=p.N29S;refseq.proteinCoordStr_3=p.N29S;refseq.proteinCoordStr_4=p.N29S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.spliceDist_4=-102;refseq.start_1=10494937;refseq.start_2=10494937;refseq.start_3=10494937;refseq.start_4=10494937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/1 chr12 10639581 . C T 451.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.86;MQ0=0;OQ=5318.37;QD=41.88;RankSumP=1.00000;SB=-2334.99;SecondBestBaseQ=0;refseq.chr=chr12;refseq.end=10639581;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=784;refseq.name=NR_028045;refseq.name2=KLRA1;refseq.positionType=non_coding_exon;refseq.spliceDist=-25;refseq.start=10639581;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr12 10639670 . A T 461.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.98;MQ0=0;OQ=5137.12;QD=40.13;RankSumP=1.00000;SB=-2327.02;SecondBestBaseQ=0;refseq.chr=chr12;refseq.end=10639670;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=695;refseq.name=NR_028045;refseq.name2=KLRA1;refseq.positionType=non_coding_exon;refseq.spliceDist=-114;refseq.start=10639670;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr12 10654503 . G C 294.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=97.06;MQ0=0;OQ=4530.54;QD=43.56;RankSumP=1.00000;SB=-1962.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.138C>G;refseq.codonCoord=46;refseq.end=10654503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_018048;refseq.name2=MAGOHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V46V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-16;refseq.start=10654503;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 10664109 . C A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0448615;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1170G>T;refseq.codonCoord=390;refseq.end=10664109;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1691;refseq.name=NM_018423;refseq.name2=STYK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E390D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=106;refseq.start=10664109;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr12 10673382 . T C 318.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.45;MQ0=0;OQ=4376.93;QD=37.73;RankSumP=1.00000;SB=-1790.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.610A>G;refseq.codonCoord=204;refseq.end=10673382;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1131;refseq.name=NM_018423;refseq.name2=STYK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S204G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-24;refseq.start=10673382;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr12 10745892 . G A 341.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=91.56;MQ0=0;OQ=2828.08;QD=39.28;RankSumP=1.00000;SB=-1428.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.780C>T;refseq.codingCoordStr_2=c.987C>T;refseq.codonCoord_1=260;refseq.codonCoord_2=329;refseq.end_1=10745892;refseq.end_2=10745892;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1230;refseq.name2_1=CSDA;refseq.name2_2=CSDA;refseq.name_1=NM_001145426;refseq.name_2=NM_003651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y260Y;refseq.proteinCoordStr_2=p.Y329Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=10745892;refseq.start_2=10745892;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr12 10753931 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=6;RankSumP=9.79894e-08;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.623A>C;refseq.codonCoord_2=208;refseq.end_1=10757066;refseq.end_2=10753931;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=866;refseq.name2_1=CSDA;refseq.name2_2=CSDA;refseq.name_1=NM_001145426;refseq.name_2=NM_003651;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D208A;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=50;refseq.start_1=10748025;refseq.start_2=10753931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr12 10766755 . T C 24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.223A>G;refseq.codingCoordStr_2=c.223A>G;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=10766755;refseq.end_2=10766755;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=466;refseq.mrnaCoord_2=466;refseq.name2_1=CSDA;refseq.name2_2=CSDA;refseq.name_1=NM_001145426;refseq.name_2=NM_003651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T75A;refseq.proteinCoordStr_2=p.T75A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=10766755;refseq.start_2=10766755;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=soap GT 1/1 chr12 10849925 . T C 393.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2840.19;QD=38.38;RankSumP=1.00000;SB=-996.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.922A>G;refseq.codonCoord=308;refseq.end=10849925;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_023918;refseq.name2=TAS2R8;refseq.positionType=CDS;refseq.proteinCoordStr=p.M308V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=10849925;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 10850298 . C T 135.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=4564.99;QD=23.06;RankSumP=0.259100;SB=-1925.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.549G>A;refseq.codonCoord=183;refseq.end=10850298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_023918;refseq.name2=TAS2R8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L183L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-382;refseq.start=10850298;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr12 10853382 . A G 210.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.74;MQ0=0;OQ=2361.19;QD=13.73;RankSumP=0.0745912;SB=-1003.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.560T>C;refseq.codonCoord=187;refseq.end=10853382;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_023917;refseq.name2=TAS2R9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V187A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-423;refseq.start=10853382;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr12 10869669 . G A 387.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2308.93;QD=41.23;RankSumP=1.00000;SB=-901.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.467C>T;refseq.codonCoord=156;refseq.end=10869669;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_023921;refseq.name2=TAS2R10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T156M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-458;refseq.start=10869669;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr12 10890975 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=469;Dels=0.00;HRun=1;HaplotypeScore=10.42;MQ=98.75;MQ0=0;OQ=17703.59;QD=37.75;RankSumP=1.00000;SB=-7212.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.398A>G;refseq.codingCoordStr_2=c.359A>G;refseq.codonCoord_1=133;refseq.codonCoord_2=120;refseq.end_1=10890975;refseq.end_2=10890975;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=398;refseq.name2_1=PRR4;refseq.name2_2=PRR4;refseq.name_1=NM_001098538;refseq.name_2=NM_007244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q133R;refseq.proteinCoordStr_2=p.Q120R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=10890975;refseq.start_2=10890975;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr12 10891047 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=774;Dels=0.00;HRun=1;HaplotypeScore=21.20;MQ=98.55;MQ0=0;OQ=14246.91;QD=18.41;RankSumP=0.122035;SB=-4835.16;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.326G>A;refseq.codingCoordStr_2=c.287G>A;refseq.codonCoord_1=109;refseq.codonCoord_2=96;refseq.end_1=10891047;refseq.end_2=10891047;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=652;refseq.mrnaCoord_2=326;refseq.name2_1=PRR4;refseq.name2_2=PRR4;refseq.name_1=NM_001098538;refseq.name_2=NM_007244;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R109Q;refseq.proteinCoordStr_2=p.R96Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-137;refseq.spliceDist_2=-137;refseq.start_1=10891047;refseq.start_2=10891047;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr12 10974551 . A C 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.412587;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.124A>C;refseq.codingCoordStr_4=c.124A>C;refseq.codonCoord_3=42;refseq.codonCoord_4=42;refseq.end_1=11017510;refseq.end_2=11017510;refseq.end_3=10974551;refseq.end_4=10974551;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=162;refseq.mrnaCoord_4=163;refseq.name2_1=PRR4;refseq.name2_2=PRH1;refseq.name2_3=PRH2;refseq.name2_4=PRH2;refseq.name_1=NM_001098538;refseq.name_2=NM_006250;refseq.name_3=NM_001110213;refseq.name_4=NM_005042;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.I42L;refseq.proteinCoordStr_4=p.I42L;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=10892284;refseq.start_2=10928152;refseq.start_3=10974551;refseq.start_4=10974551;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=soap GT 0/1 chr12 10974623 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.437168;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.196A>G;refseq.codingCoordStr_4=c.196A>G;refseq.codonCoord_3=66;refseq.codonCoord_4=66;refseq.end_1=11017510;refseq.end_2=11017510;refseq.end_3=10974623;refseq.end_4=10974623;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=234;refseq.mrnaCoord_4=235;refseq.name2_1=PRR4;refseq.name2_2=PRH1;refseq.name2_3=PRH2;refseq.name2_4=PRH2;refseq.name_1=NM_001098538;refseq.name_2=NM_006250;refseq.name_3=NM_001110213;refseq.name_4=NM_005042;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.N66D;refseq.proteinCoordStr_4=p.N66D;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_3=96;refseq.spliceDist_4=96;refseq.start_1=10892284;refseq.start_2=10928152;refseq.start_3=10974623;refseq.start_4=10974623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=soap GT 0/1 chr12 10974782 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.163725;SecondBestBaseQ=28;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.355C>T;refseq.codingCoordStr_4=c.355C>T;refseq.codonCoord_3=119;refseq.codonCoord_4=119;refseq.end_1=11017510;refseq.end_2=11017510;refseq.end_3=10974782;refseq.end_4=10974782;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=393;refseq.mrnaCoord_4=394;refseq.name2_1=PRR4;refseq.name2_2=PRH1;refseq.name2_3=PRH2;refseq.name2_4=PRH2;refseq.name_1=NM_001098538;refseq.name_2=NM_006250;refseq.name_3=NM_001110213;refseq.name_4=NM_005042;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.R119C;refseq.proteinCoordStr_4=p.R119C;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_3=-165;refseq.spliceDist_4=255;refseq.start_1=10892284;refseq.start_2=10928152;refseq.start_3=10974782;refseq.start_4=10974782;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=soap GT 0/1 chr12 10982699 . C T 298.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=98.69;MQ0=0;OQ=4121.53;QD=21.92;RankSumP=0.0937462;SB=-1419.82;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.375G>A;refseq.codonCoord_3=125;refseq.end_1=11017510;refseq.end_2=11017510;refseq.end_3=10982699;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=375;refseq.name2_1=PRR4;refseq.name2_2=PRH1;refseq.name2_3=TAS2R14;refseq.name_1=NM_001098538;refseq.name_2=NM_006250;refseq.name_3=NM_023922;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R125R;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=AGG;refseq.spliceDist_3=375;refseq.start_1=10892284;refseq.start_2=10928152;refseq.start_3=10982699;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr12 10982960 . T A 144.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.64;MQ0=0;OQ=2169.82;QD=13.31;RankSumP=0.140748;SB=-695.39;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.114A>T;refseq.codonCoord_3=38;refseq.end_1=11017510;refseq.end_2=11017510;refseq.end_3=10982960;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=114;refseq.name2_1=PRR4;refseq.name2_2=PRH1;refseq.name2_3=TAS2R14;refseq.name_1=NM_001098538;refseq.name_2=NM_006250;refseq.name_3=NM_023922;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G38G;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_3=114;refseq.start_1=10892284;refseq.start_2=10928152;refseq.start_3=10982960;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGT;set=Intersection GT 1/0 chr12 11030202 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=240;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=5122.75;QD=21.34;RankSumP=0.361468;SB=-2022.11;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.525A>G;refseq.codonCoord_3=175;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11030202;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=577;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R50;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176890;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S175S;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCA;refseq.spliceDist_3=-424;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11030202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCG;set=Intersection GT 1/0 chr12 11040852 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.890T>G;refseq.codonCoord_3=297;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11040852;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=890;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R20;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176889;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V297G;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_3=890;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11040852;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr12 11041507 . T C 171.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=571.94;QD=16.34;RankSumP=0.491393;SB=-266.28;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.235A>G;refseq.codonCoord_3=79;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11041507;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=235;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R20;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176889;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K79E;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAA;refseq.spliceDist_3=235;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11041507;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr12 11065543 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=43.97;MQ=98.39;MQ0=0;OQ=7470.40;QD=21.84;RankSumP=0.415337;SB=-2146.68;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.895C>T;refseq.codonCoord_3=299;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11065543;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=895;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R19;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176888;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R299C;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGC;refseq.spliceDist_3=-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11065543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Cys;refseq.variantCodon_3=TGC;set=Intersection GT 1/0 chr12 11065594 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=427;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=97.40;MQ0=0;OQ=73.89;QD=0.17;SB=-38.94;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.844G>A;refseq.codonCoord_3=282;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11065594;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=844;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R19;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176888;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G282R;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGA;refseq.spliceDist_3=-57;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11065594;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:396,31:422:-137.73,-127.06,-1654.47:99 chr12 11066020 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=3;HaplotypeScore=11.45;MQ=77.23;MQ0=14;OQ=5190.62;QD=18.47;RankSumP=0.456799;SB=-1829.49;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.418C>T;refseq.codonCoord_3=140;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11066020;refseq.frame_3=0;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=418;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R19;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176888;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L140L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTG;refseq.spliceDist_3=418;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11066020;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr12 11066354 . G A 270 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=6.57;MQ=86.75;MQ0=6;OQ=4451.68;QD=19.52;RankSumP=0.0566409;SB=-1871.68;SecondBestBaseQ=32;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.84C>T;refseq.codonCoord_3=28;refseq.end_1=11078637;refseq.end_2=11090875;refseq.end_3=11066354;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=84;refseq.name2_1=PRH1;refseq.name2_2=PRR4;refseq.name2_3=TAS2R19;refseq.name_1=NM_006250;refseq.name_2=NM_001098538;refseq.name_3=NM_176888;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A28A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCC;refseq.spliceDist_3=84;refseq.start_1=11017598;refseq.start_2=11017598;refseq.start_3=11066354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr12 11229880 rs1650017 C G 30.68 PASS AC=1;AF=0.50;AN=2;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=1.83;MQ=97.93;MQ0=0;OQ=1996.72;QD=12.80;SB=-429.81;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.931G>C;refseq.codonCoord=311;refseq.end=11229880;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.A311P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-15;refseq.start=11229880;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=gatk GT:AD:DP:GL:GQ 0/1:106,50:155:-249.63,-46.67,-508.38:99 chr12 11229881 rs1669411 A G 6.79 PASS AC=1;AF=0.50;AN=2;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=98.00;MQ0=0;OQ=1543.62;QD=9.77;SB=-335.18;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.930T>C;refseq.codonCoord=310;refseq.end=11229881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.N310N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-16;refseq.start=11229881;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=gatk GT:AD:DP:GL:GQ 0/1:109,49:156:-204.63,-46.98,-454.12:99 chr12 11229936 . C T 126.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=1;HaplotypeScore=9.14;MQ=98.55;MQ0=0;OQ=5273.57;QD=19.39;RankSumP=0.446091;SB=-1795.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.875G>A;refseq.codonCoord=292;refseq.end=11229936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.R292Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-71;refseq.start=11229936;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr12 11230017 . T C 202.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=98.56;MQ0=0;OQ=2962.00;QD=16.64;RankSumP=0.278357;SB=-1145.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.794A>G;refseq.codonCoord=265;refseq.end=11230017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y265C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-152;refseq.start=11230017;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 11230048 . C A 134.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=98.56;MQ0=0;OQ=2278.64;QD=16.63;RankSumP=0.220388;SB=-948.35;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.763G>T;refseq.codonCoord=255;refseq.end=11230048;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.G255W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-183;refseq.start=11230048;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr12 11230250 . T C 196.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.76;MQ0=0;OQ=2511.42;QD=20.42;RankSumP=0.276275;SB=-1169.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.561A>G;refseq.codonCoord=187;refseq.end=11230250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_181429;refseq.name2=TAS2R42;refseq.positionType=CDS;refseq.proteinCoordStr=p.L187L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-385;refseq.start=11230250;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr12 11352559 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=434;Dels=0.00;HRun=1;HaplotypeScore=40.52;MQ=97.72;MQ0=0;OQ=7455.68;QD=17.18;RankSumP=0.169380;SB=-2136.49;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.625G>C;refseq.codonCoord=209;refseq.end=11352559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A209P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-138;refseq.start=11352559;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 11352737 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=779;Dels=0.00;HRun=0;HaplotypeScore=35.88;MQ=82.24;MQ0=27;OQ=14037.44;QD=18.02;RankSumP=0.00634569;SB=-5882.90;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.447T>C;refseq.codonCoord=149;refseq.end=11352737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G149G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-316;refseq.start=11352737;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 0/1 chr12 11352816 rs11054243 G C 31.41 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=539;Dels=0.00;HRun=0;HaplotypeScore=19.33;MQ=82.07;MQ0=33;QD=0.06;SB=676.30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.368C>G;refseq.codonCoord=123;refseq.end=11352816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P123R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=268;refseq.start=11352816;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:494,45:430:-135.98,-129.55,-1848.89:64.24 chr12 11352820 rs11054244 T C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=541;Dels=0.00;HRun=1;HaplotypeScore=14.59;MQ=81.06;MQ0=33;OQ=288.05;QD=0.53;SB=574.31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.364A>G;refseq.codonCoord=122;refseq.end=11352820;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R122G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=264;refseq.start=11352820;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:475,63:445:-166.13,-134.04,-1713.03:99 chr12 11352837 . G T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=522;Dels=0.00;HRun=0;HaplotypeScore=33.74;MQ=78.82;MQ0=33;OQ=1415.24;QD=2.71;RankSumP=0.00682668;SB=-728.72;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.347C>A;refseq.codonCoord=116;refseq.end=11352837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P116H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=247;refseq.start=11352837;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 0/1 chr12 11352847 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=517;Dels=0.00;HRun=4;HaplotypeScore=53.83;MQ=74.54;MQ0=36;OQ=96.86;QD=0.19;RankSumP=0.00383044;SB=-32.53;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.337A>C;refseq.codonCoord=113;refseq.end=11352847;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T113P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=237;refseq.start=11352847;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 11352863 rs59021567 T G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=595;Dels=0.00;HRun=0;HaplotypeScore=30.84;MQ=64.90;MQ0=35;OQ=370.06;QD=0.62;SB=-120.46;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.321A>C;refseq.codonCoord=107;refseq.end=11352863;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=221;refseq.start=11352863;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:506,87:490:-187.86,-147.57,-1711.65:99 chr12 11352973 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=986;Dels=0.00;HRun=0;HaplotypeScore=90.27;MQ=61.29;MQ0=97;OQ=282.71;QD=0.29;RankSumP=0.411120;SB=439.73;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.211C>A;refseq.codonCoord=71;refseq.end=11352973;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P71T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=111;refseq.start=11352973;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr12 11352976 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=8.07860e-05;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.208G>C;refseq.codonCoord=70;refseq.end=11352976;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70R;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=108;refseq.start=11352976;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/0 chr12 11352982 . A G 24 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=5.31607e-05;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.202T>C;refseq.codonCoord=68;refseq.end=11352982;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S68P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=102;refseq.start=11352982;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 11353036 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=907;Dels=0.00;HRun=0;HaplotypeScore=47.13;MQ=81.52;MQ0=9;OQ=2247.54;QD=2.48;SB=-757.28;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.148C>A;refseq.codonCoord=50;refseq.end=11353036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_002723;refseq.name2=PRB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P50T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=48;refseq.start=11353036;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:745,162:779:-462.72,-234.68,-2432.05:99 chr12 11397478 . A C 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=461;Dels=0.00;HRun=0;HaplotypeScore=18.05;MQ=32.88;MQ0=98;OQ=13479.04;QD=29.24;RankSumP=1.00000;SB=-5108.72;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.826T>G;refseq.codingCoordStr_2=c.427T>G;refseq.codingCoordStr_3=c.367T>G;refseq.codonCoord_1=276;refseq.codonCoord_2=143;refseq.codonCoord_3=123;refseq.end_1=11397478;refseq.end_2=11397478;refseq.end_3=11397478;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=464;refseq.mrnaCoord_3=404;refseq.name2_1=PRB1;refseq.name2_2=PRB1;refseq.name2_3=PRB1;refseq.name_1=NM_005039;refseq.name_2=NM_199353;refseq.name_3=NM_199354;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S276A;refseq.proteinCoordStr_2=p.S143A;refseq.proteinCoordStr_3=p.S123A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-204;refseq.spliceDist_2=114;refseq.spliceDist_3=54;refseq.start_1=11397478;refseq.start_2=11397478;refseq.start_3=11397478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/1 chr12 11398016 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.0161496;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.288A>G;refseq.codingCoordStr_2=c.288A>G;refseq.codingCoordStr_3=c.288A>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.codonCoord_3=96;refseq.end_1=11398016;refseq.end_2=11398016;refseq.end_3=11398016;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=325;refseq.mrnaCoord_3=325;refseq.name2_1=PRB1;refseq.name2_2=PRB1;refseq.name2_3=PRB1;refseq.name_1=NM_005039;refseq.name_2=NM_199353;refseq.name_3=NM_199354;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K96K;refseq.proteinCoordStr_2=p.K96K;refseq.proteinCoordStr_3=p.K96K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=188;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=11398016;refseq.start_2=11398016;refseq.start_3=11398016;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=soap GT 1/0 chr12 11398041 . C T 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.0939631;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.263G>A;refseq.codingCoordStr_2=c.263G>A;refseq.codingCoordStr_3=c.263G>A;refseq.codonCoord_1=88;refseq.codonCoord_2=88;refseq.codonCoord_3=88;refseq.end_1=11398041;refseq.end_2=11398041;refseq.end_3=11398041;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=300;refseq.mrnaCoord_3=300;refseq.name2_1=PRB1;refseq.name2_2=PRB1;refseq.name2_3=PRB1;refseq.name_1=NM_005039;refseq.name_2=NM_199353;refseq.name_3=NM_199354;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R88Q;refseq.proteinCoordStr_2=p.R88Q;refseq.proteinCoordStr_3=p.R88Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=163;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=11398041;refseq.start_2=11398041;refseq.start_3=11398041;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=soap GT 0/1 chr12 11398052 . C T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.205121;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.252G>A;refseq.codingCoordStr_2=c.252G>A;refseq.codingCoordStr_3=c.252G>A;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.end_1=11398052;refseq.end_2=11398052;refseq.end_3=11398052;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=289;refseq.mrnaCoord_2=289;refseq.mrnaCoord_3=289;refseq.name2_1=PRB1;refseq.name2_2=PRB1;refseq.name2_3=PRB1;refseq.name_1=NM_005039;refseq.name_2=NM_199353;refseq.name_3=NM_199354;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G84G;refseq.proteinCoordStr_2=p.G84G;refseq.proteinCoordStr_3=p.G84G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=152;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=11398052;refseq.start_2=11398052;refseq.start_3=11398052;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=soap GT 0/1 chr12 11398160 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=65.61;MQ0=54;OQ=8748.52;QD=29.16;RankSumP=1.00000;SB=-2391.58;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.144G>A;refseq.codingCoordStr_2=c.144G>A;refseq.codingCoordStr_3=c.144G>A;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.codonCoord_3=48;refseq.end_1=11398160;refseq.end_2=11398160;refseq.end_3=11398160;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=181;refseq.mrnaCoord_2=181;refseq.mrnaCoord_3=181;refseq.name2_1=PRB1;refseq.name2_2=PRB1;refseq.name2_3=PRB1;refseq.name_1=NM_005039;refseq.name_2=NM_199353;refseq.name_3=NM_199354;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q48Q;refseq.proteinCoordStr_2=p.Q48Q;refseq.proteinCoordStr_3=p.Q48Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=11398160;refseq.start_2=11398160;refseq.start_3=11398160;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr12 11437459 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=1260;Dels=0.00;HRun=0;HaplotypeScore=107.31;MQ=14.23;MQ0=1116;OQ=2974.53;QD=2.36;RankSumP=4.13474e-07;SB=-265.64;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.820C>T;refseq.codonCoord=274;refseq.end=11437459;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P274S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-465;refseq.start=11437459;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/0 chr12 11437883 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.209340;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.396T>C;refseq.codonCoord=132;refseq.end=11437883;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P132P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=296;refseq.start=11437883;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr12 11437944 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.488988;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.335G>A;refseq.codonCoord=112;refseq.end=11437944;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R112Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=235;refseq.start=11437944;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr12 11437953 . C T -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1588;Dels=0.00;HRun=2;HaplotypeScore=269.48;MQ=34.11;MQ0=309;OQ=7872.86;QD=4.96;SB=-2455.58;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.326G>A;refseq.codonCoord=109;refseq.end=11437953;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R109Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=226;refseq.start=11437953;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1290,288:983:-786.29,-296.12,-2967.58:99 chr12 11438009 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=1420;Dels=0.00;HRun=2;HaplotypeScore=160.94;MQ=21.40;MQ0=979;OQ=1009.18;QD=0.71;RankSumP=0.442005;SB=-241.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.270A>G;refseq.codonCoord=90;refseq.end=11438009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q90Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=170;refseq.start=11438009;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap-filterIngatk GT 1/0 chr12 11438016 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.0637179;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.263A>G;refseq.codonCoord=88;refseq.end=11438016;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K88R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=163;refseq.start=11438016;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr12 11438075 . A G 83 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00118985;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.204T>C;refseq.codonCoord=68;refseq.end=11438075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P68P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=104;refseq.start=11438075;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 11438084 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.116214;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.195C>T;refseq.codonCoord=65;refseq.end=11438084;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_006248;refseq.name2=PRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G65G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=95;refseq.start=11438084;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 12131466 . C T 270.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.18;MQ0=0;OQ=3799.80;QD=42.69;RankSumP=1.00000;SB=-1275.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.486C>T;refseq.codingCoordStr_2=c.486C>T;refseq.codingCoordStr_3=c.486C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.codonCoord_3=162;refseq.end_1=12131466;refseq.end_2=12131466;refseq.end_3=12131466;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=681;refseq.mrnaCoord_2=681;refseq.mrnaCoord_3=687;refseq.name2_1=BCL2L14;refseq.name2_2=BCL2L14;refseq.name2_3=BCL2L14;refseq.name_1=NM_030766;refseq.name_2=NM_138722;refseq.name_3=NM_138723;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y162Y;refseq.proteinCoordStr_2=p.Y162Y;refseq.proteinCoordStr_3=p.Y162Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=12131466;refseq.start_2=12131466;refseq.start_3=12131466;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/1 chr12 12138883 . T C 108.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=23.72;MQ=99.00;MQ0=0;OQ=7027.53;QD=18.99;RankSumP=0.130191;SB=-2917.60;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.*91T>C;refseq.codingCoordStr_2=c.697T>C;refseq.codingCoordStr_3=c.697T>C;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.end_1=12138883;refseq.end_2=12138883;refseq.end_3=12138883;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1045;refseq.mrnaCoord_2=892;refseq.mrnaCoord_3=898;refseq.name2_1=BCL2L14;refseq.name2_2=BCL2L14;refseq.name2_3=BCL2L14;refseq.name_1=NM_030766;refseq.name_2=NM_138722;refseq.name_3=NM_138723;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L233L;refseq.proteinCoordStr_3=p.L233L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=172;refseq.spliceDist_2=19;refseq.spliceDist_3=19;refseq.start_1=12138883;refseq.start_2=12138883;refseq.start_3=12138883;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr12 12193165 . C T 309.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=98.70;MQ0=0;OQ=13316.67;QD=40.97;RankSumP=1.00000;SB=-4466.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3184G>A;refseq.codonCoord=1062;refseq.end=12193165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3326;refseq.name=NM_002336;refseq.name2=LRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1062I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-23;refseq.start=12193165;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr12 12288695 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=3.18015e-09;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.217G>A;refseq.codonCoord=73;refseq.end=12288695;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_002336;refseq.name2=LRP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E73K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=162;refseq.start=12288695;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr12 12374542 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=508;Dels=0.00;HRun=1;HaplotypeScore=8.47;MQ=98.79;MQ0=0;OQ=22050.50;QD=43.41;RankSumP=1.00000;SB=-8972.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.982C>T;refseq.codonCoord=328;refseq.end=12374542;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_018050;refseq.name2=MANSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L328L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=618;refseq.start=12374542;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr12 12374980 . A G 256.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2947.16;QD=42.10;RankSumP=1.00000;SB=-766.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.544T>C;refseq.codonCoord=182;refseq.end=12374980;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_018050;refseq.name2=MANSC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L182L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=180;refseq.start=12374980;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 12521613 . G A 112.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=98.81;MQ0=0;OQ=1601.65;QD=20.80;RankSumP=0.394637;SB=-439.80;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1419C>T;refseq.codonCoord=473;refseq.end=12521613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2051;refseq.name=NM_030640;refseq.name2=DUSP16;refseq.positionType=CDS;refseq.proteinCoordStr=p.T473T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=604;refseq.start=12521613;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr12 12706085 . C T 440.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.46;MQ0=0;OQ=8454.92;QD=40.65;RankSumP=1.00000;SB=-2287.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.565G>A;refseq.codonCoord=189;refseq.end=12706085;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_006143;refseq.name2=GPR19;refseq.positionType=CDS;refseq.proteinCoordStr=p.V189I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=587;refseq.start=12706085;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 12762366 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.96;MQ0=0;OQ=246.25;QD=9.47;RankSumP=0.238353;SB=-112.15;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.326T>G;refseq.codonCoord=109;refseq.end=12762366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_004064;refseq.name2=CDKN1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V109G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-150;refseq.start=12762366;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr12 12993872 . G A 255.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=15.16;MQ=98.80;MQ0=0;OQ=8278.44;QD=22.02;RankSumP=0.0730603;SB=-2918.15;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.714C>T;refseq.codonCoord=238;refseq.end=12993872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_018654;refseq.name2=GPRC5D;refseq.positionType=CDS;refseq.proteinCoordStr=p.D238D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-182;refseq.start=12993872;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr12 13105804 . A G 402.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=4208.22;QD=41.67;RankSumP=1.00000;SB=-1181.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.561A>G;refseq.codonCoord=187;refseq.end=13105804;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_020853;refseq.name2=KIAA1467;refseq.positionType=CDS;refseq.proteinCoordStr=p.V187V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=29;refseq.start=13105804;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 13112873 . T C 206.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=6.08;MQ=98.64;MQ0=0;OQ=21809.10;QD=41.86;RankSumP=1.00000;SB=-8688.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1329T>C;refseq.codonCoord=443;refseq.end=13112873;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1352;refseq.name=NM_020853;refseq.name2=KIAA1467;refseq.positionType=CDS;refseq.proteinCoordStr=p.D443D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-40;refseq.start=13112873;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 13607905 . G A 304.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.80;MQ0=0;OQ=8231.86;QD=16.94;RankSumP=0.246740;SB=-2653.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3534C>T;refseq.codonCoord=1178;refseq.end=13607905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3713;refseq.name=NM_000834;refseq.name2=GRIN2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1178H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=936;refseq.start=13607905;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 13910044 . G C 259.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.86;MQ0=0;OQ=4089.08;QD=22.72;RankSumP=0.000118339;SB=-1539.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.366C>G;refseq.codonCoord=122;refseq.end=13910044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_000834;refseq.name2=GRIN2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P122P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-46;refseq.start=13910044;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 0/1 chr12 14469159 . A T 129.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=9.99;MQ=98.86;MQ0=0;OQ=2457.78;QD=17.94;RankSumP=0.382968;SB=-966.19;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1043A>T;refseq.codonCoord=348;refseq.end=14469159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_018179;refseq.name2=ATF7IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N348I;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-516;refseq.start=14469159;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr12 14478568 . A G 301.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=10.15;MQ=98.84;MQ0=0;OQ=6977.98;QD=22.51;RankSumP=0.439881;SB=-2389.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1589A>G;refseq.codonCoord=530;refseq.end=14478568;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1747;refseq.name=NM_018179;refseq.name2=ATF7IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K530R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=31;refseq.start=14478568;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr12 14501466 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=199;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=3179.95;QD=15.98;RankSumP=0.465669;SB=-975.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2128C>T;refseq.codonCoord=710;refseq.end=14501466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2286;refseq.name=NM_018179;refseq.name2=ATF7IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P710S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-31;refseq.start=14501466;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr12 14505184 . C A 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=136;Dels=0.00;HRun=2;HaplotypeScore=14.49;MQ=96.84;MQ0=0;OQ=170.59;QD=1.25;RankSumP=0.00000;SB=86.30;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2647C>A;refseq.codonCoord=883;refseq.end=14505184;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2805;refseq.name=NM_018179;refseq.name2=ATF7IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q883K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-151;refseq.start=14505184;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr12 14548035 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=1;HaplotypeScore=1.81;MQ=98.88;MQ0=0;OQ=9004.61;QD=23.95;RankSumP=0.413965;SB=-3727.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1600C>G;refseq.codonCoord=534;refseq.end=14548035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1761;refseq.name=NM_024829;refseq.name2=PLBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P534A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=121;refseq.start=14548035;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr12 14579911 . C T 204.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=16576.42;QD=42.07;RankSumP=1.00000;SB=-6663.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.793G>A;refseq.codonCoord=265;refseq.end=14579911;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_024829;refseq.name2=PLBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V265I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-52;refseq.start=14579911;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 14663442 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2845A>C;refseq.codonCoord=949;refseq.end=14663442;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2982;refseq.name=NM_004963;refseq.name2=GUCY2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T949P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-31;refseq.start=14663442;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr12 14685329 . G A 215.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.69;MQ0=0;OQ=5301.16;QD=42.75;RankSumP=1.00000;SB=-485.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2022C>T;refseq.codonCoord=674;refseq.end=14685329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2159;refseq.name=NM_004963;refseq.name2=GUCY2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I674I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-47;refseq.start=14685329;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr12 14721160 . A C 230.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=7.97;MQ=98.56;MQ0=0;OQ=7417.55;QD=41.91;RankSumP=1.00000;SB=-3215.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.843T>G;refseq.codonCoord=281;refseq.end=14721160;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=980;refseq.name=NM_004963;refseq.name2=GUCY2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.F281L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=13;refseq.start=14721160;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr12 14841188 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.207A>C;refseq.codonCoord=69;refseq.end=14841188;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_016312;refseq.name2=WBP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q69H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=17;refseq.start=14841188;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr12 14850658 . T C 233.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.53;MQ0=0;OQ=8069.73;QD=20.85;RankSumP=0.196773;SB=-3303.00;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.224A>G;refseq.codonCoord_2=75;refseq.end_1=14867102;refseq.end_2=14850658;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=297;refseq.name2_1=C12orf60;refseq.name2_2=C12orf69;refseq.name_1=NM_175874;refseq.name_2=NM_001013698;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K75R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=240;refseq.start_1=14847963;refseq.start_2=14850658;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr12 14867330 . A G 314.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.74;MQ0=0;OQ=3883.92;QD=19.13;RankSumP=0.487377;SB=-952.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.194A>G;refseq.codonCoord=65;refseq.end=14867330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_175874;refseq.name2=C12orf60;refseq.positionType=CDS;refseq.proteinCoordStr=p.K65R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=218;refseq.start=14867330;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr12 14867445 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=463;Dels=0.00;HRun=2;HaplotypeScore=8.54;MQ=98.97;MQ0=0;OQ=9187.00;QD=19.84;RankSumP=0.107095;SB=-3799.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.309T>A;refseq.codonCoord=103;refseq.end=14867445;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_175874;refseq.name2=C12orf60;refseq.positionType=CDS;refseq.proteinCoordStr=p.N103K;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=333;refseq.start=14867445;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr12 14884706 . C T 163.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=1;HaplotypeScore=8.99;MQ=98.91;MQ0=0;OQ=5682.19;QD=16.66;RankSumP=0.496531;SB=-2309.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.793G>A;refseq.codonCoord=265;refseq.end=14884706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_021071;refseq.name2=ART4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D265N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-61;refseq.start=14884706;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 14884875 . G A 230.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.89;MQ0=0;OQ=3019.17;QD=16.32;RankSumP=0.349002;SB=-1359.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.624C>T;refseq.codonCoord=208;refseq.end=14884875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_021071;refseq.name2=ART4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L208L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-230;refseq.start=14884875;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr12 14885121 . A G 104.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=432;Dels=0.00;HRun=0;HaplotypeScore=22.59;MQ=98.81;MQ0=0;OQ=9148.24;QD=21.18;RankSumP=0.0892590;SB=-2768.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.378T>C;refseq.codonCoord=126;refseq.end=14885121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=744;refseq.name=NM_021071;refseq.name2=ART4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y126Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=234;refseq.start=14885121;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr12 14926348 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=392;Dels=0.00;HRun=3;HaplotypeScore=11.14;MQ=98.45;MQ0=0;OQ=6244.81;QD=15.93;RankSumP=0.282352;SB=-1099.18;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.304A>G;refseq.codonCoord=102;refseq.end=14926348;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_000900;refseq.name2=MGP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T102A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=134;refseq.start=14926348;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr12 14986825 . C G 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=489;Dels=0.00;HRun=1;HaplotypeScore=13.99;MQ=98.86;MQ0=0;OQ=22925.41;QD=46.88;RankSumP=1.00000;SB=-8347.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.504G>C;refseq.codonCoord=168;refseq.end=14986825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_001175;refseq.name2=ARHGDIB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A168A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=98;refseq.start=14986825;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 14994872 . A G 303.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.70;MQ0=0;OQ=7526.71;QD=37.63;RankSumP=1.00000;SB=-2252.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.42T>C;refseq.codonCoord=14;refseq.end=14994872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_001175;refseq.name2=ARHGDIB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D14D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=54;refseq.start=14994872;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 15153446 . G A 340.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=10.19;MQ=98.18;MQ0=0;OQ=5262.76;QD=17.25;RankSumP=0.415589;SB=-2030.04;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=15153446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_032918;refseq.name2=RERG;refseq.positionType=CDS;refseq.proteinCoordStr=p.N155N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=273;refseq.start=15153446;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr12 15570387 . C A 190.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=98.80;MQ0=0;OQ=2553.57;QD=14.51;RankSumP=0.243659;SB=-449.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2088C>A;refseq.codingCoordStr_2=c.2088C>A;refseq.codonCoord_1=696;refseq.codonCoord_2=696;refseq.end_1=15570387;refseq.end_2=15570387;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2262;refseq.mrnaCoord_2=2262;refseq.name2_1=PTPRO;refseq.name2_2=PTPRO;refseq.name_1=NM_002848;refseq.name_2=NM_030667;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G696G;refseq.proteinCoordStr_2=p.G696G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=15570387;refseq.start_2=15570387;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr12 15691438 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1458T>C;refseq.codonCoord=486;refseq.end=15691438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1895;refseq.name=NM_004447;refseq.name2=EPS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H486H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=24;refseq.start=15691438;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr12 18125523 . T C 362.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.74;MQ0=0;OQ=4902.59;QD=20.09;RankSumP=0.435518;SB=-1757.16;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.487A>G;refseq.codonCoord=163;refseq.end=18125523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_024730;refseq.name2=RERGL;refseq.positionType=CDS;refseq.proteinCoordStr=p.M163V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=152;refseq.start=18125523;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 20413519 . G A 3.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.14;MQ0=0;OQ=92.13;QD=23.03;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.34G>A;refseq.codonCoord=12;refseq.end=20413519;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=56;refseq.name=NM_000921;refseq.name2=PDE3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D12N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=56;refseq.start=20413519;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/1 chr12 20657826 . C T 114.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=11.14;MQ=98.94;MQ0=0;OQ=12508.40;QD=41.56;RankSumP=1.00000;SB=-3963.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1194C>T;refseq.codonCoord=398;refseq.end=20657826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1216;refseq.name=NM_000921;refseq.name2=PDE3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V398V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-76;refseq.start=20657826;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr12 20677952 . G T 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=183;Dels=0.00;HRun=1;HaplotypeScore=16.98;MQ=97.95;MQ0=0;OQ=189.39;QD=1.03;RankSumP=0.00000;SB=248.83;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1819G>T;refseq.codonCoord=607;refseq.end=20677952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1841;refseq.name=NM_000921;refseq.name2=PDE3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V607L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-28;refseq.start=20677952;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr12 20796517 . C T 150.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=4040.58;QD=43.92;RankSumP=1.00000;SB=-1374.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1676C>T;refseq.codingCoordStr_2=c.1780C>T;refseq.codingCoordStr_3=c.2030C>T;refseq.codingCoordStr_4=c.1927C>T;refseq.codonCoord_1=559;refseq.codonCoord_2=594;refseq.codonCoord_3=677;refseq.codonCoord_4=643;refseq.end_1=20796517;refseq.end_2=20796517;refseq.end_3=20796517;refseq.end_4=20796517;refseq.frame_1=1;refseq.frame_2=0;refseq.frame_3=1;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2102;refseq.mrnaCoord_2=2135;refseq.mrnaCoord_3=2385;refseq.mrnaCoord_4=2295;refseq.name2_1=SLCO1C1;refseq.name2_2=SLCO1C1;refseq.name2_3=SLCO1C1;refseq.name2_4=SLCO1C1;refseq.name_1=NM_001145944;refseq.name_2=NM_001145945;refseq.name_3=NM_001145946;refseq.name_4=NM_017435;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S559F;refseq.proteinCoordStr_2=p.L594L;refseq.proteinCoordStr_3=p.S677F;refseq.proteinCoordStr_4=p.L643L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.start_1=20796517;refseq.start_2=20796517;refseq.start_3=20796517;refseq.start_4=20796517;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Leu;refseq.variantAA_3=Phe;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTG;set=Intersection GT 1/1 chr12 20902747 . T G 272.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.35;MQ0=0;OQ=9996.54;QD=40.47;RankSumP=1.00000;SB=-4715.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.334T>G;refseq.codonCoord=112;refseq.end=20902747;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=460;refseq.name=NM_019844;refseq.name2=SLCO1B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S112A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-26;refseq.start=20902747;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 20907027 . G A 251.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.62;MQ0=0;OQ=15165.56;QD=42.01;RankSumP=1.00000;SB=-5665.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.699G>A;refseq.codonCoord=233;refseq.end=20907027;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_019844;refseq.name2=SLCO1B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M233I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-29;refseq.start=20907027;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr12 20919475 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=97.79;MQ0=0;OQ=13098.75;QD=23.64;RankSumP=0.103794;SB=-3905.05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.767G>C;refseq.codonCoord=256;refseq.end=20919475;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=893;refseq.name=NM_019844;refseq.name2=SLCO1B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G256A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=40;refseq.start=20919475;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr12 20927678 . A G 308.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.14;MQ0=0;OQ=5827.71;QD=38.09;RankSumP=1.00000;SB=-2263.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1557A>G;refseq.codonCoord=519;refseq.end=20927678;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1683;refseq.name=NM_019844;refseq.name2=SLCO1B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A519A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=60;refseq.start=20927678;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr12 20945636 . G A 412.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.12;MQ0=0;OQ=4317.36;QD=41.12;RankSumP=1.00000;SB=-1253.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1833G>A;refseq.codonCoord=611;refseq.end=20945636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_019844;refseq.name2=SLCO1B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G611G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-33;refseq.start=20945636;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr12 21221005 . A G 221.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.76;MQ0=0;OQ=3071.86;QD=14.22;RankSumP=0.273449;SB=-1290.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.388A>G;refseq.codonCoord=130;refseq.end=21221005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_006446;refseq.name2=SLCO1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N130D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=29;refseq.start=21221005;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr12 21222816 . T C 302.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=477;Dels=0.00;HRun=0;HaplotypeScore=9.83;MQ=98.86;MQ0=0;OQ=9930.59;QD=20.82;RankSumP=0.189022;SB=-3386.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.521T>C;refseq.codonCoord=174;refseq.end=21222816;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_006446;refseq.name2=SLCO1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V174A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=21222816;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr12 21222866 . T C 266.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=9.45;MQ=98.80;MQ0=0;OQ=9162.41;QD=22.03;RankSumP=0.223108;SB=-3587.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.571T>C;refseq.codonCoord=191;refseq.end=21222866;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_006446;refseq.name2=SLCO1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L191L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-58;refseq.start=21222866;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr12 21222892 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=3;HaplotypeScore=5.55;MQ=98.77;MQ0=0;OQ=7068.44;QD=19.47;RankSumP=0.450015;SB=-2075.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.597C>T;refseq.codonCoord=199;refseq.end=21222892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_006446;refseq.name2=SLCO1B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F199F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-32;refseq.start=21222892;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr12 21319540 . G T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.555556;SecondBestBaseQ=34;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.end_1=21319550;refseq.end_2=21319550;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SLCO1A2;refseq.name2_2=SLCO1A2;refseq.name_1=NM_021094;refseq.name_2=NM_134431;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.start_1=21318798;refseq.start_2=21318798;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr12 21512901 . A G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.521156;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1449A>G;refseq.codonCoord=483;refseq.end=21512901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1576;refseq.name=NM_024854;refseq.name2=PYROXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S483S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=195;refseq.start=21512901;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT 0/1 chr12 21514394 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.734233;SecondBestBaseQ=33;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.*1T>C;refseq.codingCoordStr_2=c.*1439A>G;refseq.codingCoordStr_3=c.*1T>C;refseq.end_1=21514394;refseq.end_2=21514394;refseq.end_3=21514394;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=2496;refseq.mrnaCoord_2=3069;refseq.mrnaCoord_3=2299;refseq.name2_1=RECQL;refseq.name2_2=PYROXD1;refseq.name2_3=RECQL;refseq.name_1=NM_002907;refseq.name_2=NM_024854;refseq.name_3=NM_032941;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=154;refseq.spliceDist_2=-1054;refseq.spliceDist_3=154;refseq.start_1=21514394;refseq.start_2=21514394;refseq.start_3=21514394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;set=soap GT 0/1 chr12 21530688 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.02;MQ0=0;OQ=1594.78;QD=19.69;RankSumP=0.100900;SB=-361.73;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.493A>T;refseq.codingCoordStr_2=c.493A>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=21530688;refseq.end_2=21530688;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1038;refseq.mrnaCoord_2=841;refseq.name2_1=RECQL;refseq.name2_2=RECQL;refseq.name_1=NM_002907;refseq.name_2=NM_032941;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S165C;refseq.proteinCoordStr_2=p.S165C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=21530688;refseq.start_2=21530688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr12 21535742 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.192A>C;refseq.codingCoordStr_2=c.192A>C;refseq.codonCoord_1=64;refseq.codonCoord_2=64;refseq.end_1=21535742;refseq.end_2=21535742;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=737;refseq.mrnaCoord_2=540;refseq.name2_1=RECQL;refseq.name2_2=RECQL;refseq.name_1=NM_002907;refseq.name_2=NM_032941;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S64S;refseq.proteinCoordStr_2=p.S64S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=21535742;refseq.start_2=21535742;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr12 21682640 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.627T>G;refseq.codingCoordStr_2=c.627T>G;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.end_1=21682640;refseq.end_2=21682640;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=960;refseq.mrnaCoord_2=738;refseq.name2_1=LDHB;refseq.name2_2=LDHB;refseq.name_1=NM_001174097;refseq.name_2=NM_002300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G209G;refseq.proteinCoordStr_2=p.G209G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=21682640;refseq.start_2=21682640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 21688296 . A G 241.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=6.93;MQ=98.54;MQ0=0;OQ=6162.88;QD=38.76;RankSumP=1.00000;SB=-1466.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.261T>C;refseq.codingCoordStr_2=c.261T>C;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=21688296;refseq.end_2=21688296;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=594;refseq.mrnaCoord_2=372;refseq.name2_1=LDHB;refseq.name2_2=LDHB;refseq.name_1=NM_001174097;refseq.name_2=NM_002300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T87T;refseq.proteinCoordStr_2=p.T87T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=21688296;refseq.start_2=21688296;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr12 21954382 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=11599.22;QD=42.49;RankSumP=1.00000;SB=-5340.45;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1296T>C;refseq.codingCoordStr_2=c.1296T>C;refseq.codingCoordStr_3=c.1296T>C;refseq.codonCoord_1=432;refseq.codonCoord_2=432;refseq.codonCoord_3=432;refseq.end_1=21954382;refseq.end_2=21954382;refseq.end_3=21954382;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1316;refseq.mrnaCoord_2=1316;refseq.mrnaCoord_3=1316;refseq.name2_1=ABCC9;refseq.name2_2=ABCC9;refseq.name2_3=ABCC9;refseq.name_1=NM_005691;refseq.name_2=NM_020297;refseq.name_3=NM_020298;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P432P;refseq.proteinCoordStr_2=p.P432P;refseq.proteinCoordStr_3=p.P432P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=21954382;refseq.start_2=21954382;refseq.start_3=21954382;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr12 22246188 . A G 204.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.87;MQ0=0;OQ=1412.57;QD=19.90;RankSumP=0.229075;SB=-398.45;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.636T>C;refseq.codonCoord=212;refseq.end=22246188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1118;refseq.name=NM_003034;refseq.name2=ST8SIA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I212I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=52;refseq.start=22246188;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr12 22494063 . A G 117.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=11.93;MQ=98.74;MQ0=0;OQ=15850.48;QD=37.56;RankSumP=1.00000;SB=-7463.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2901T>C;refseq.codonCoord=967;refseq.end=22494063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3129;refseq.name=NM_014802;refseq.name2=KIAA0528;refseq.positionType=CDS;refseq.proteinCoordStr=p.D967D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=30;refseq.start=22494063;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 22688002 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.462T>G;refseq.codingCoordStr_2=c.462T>G;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=22688002;refseq.end_2=22688002;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=484;refseq.name2_1=ETNK1;refseq.name2_2=ETNK1;refseq.name_1=NM_001039481;refseq.name_2=NM_018638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C154W;refseq.proteinCoordStr_2=p.C154W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=22688002;refseq.start_2=22688002;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr12 23580836 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1806A>C;refseq.codingCoordStr_2=c.1767A>C;refseq.codingCoordStr_3=c.648A>C;refseq.codonCoord_1=602;refseq.codonCoord_2=589;refseq.codonCoord_3=216;refseq.end_1=23580836;refseq.end_2=23580836;refseq.end_3=23580836;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1908;refseq.mrnaCoord_2=2138;refseq.mrnaCoord_3=670;refseq.name2_1=SOX5;refseq.name2_2=SOX5;refseq.name2_3=SOX5;refseq.name_1=NM_006940;refseq.name_2=NM_152989;refseq.name_3=NM_178010;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K602N;refseq.proteinCoordStr_2=p.K589N;refseq.proteinCoordStr_3=p.K216N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=23580836;refseq.start_2=23580836;refseq.start_3=23580836;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 1/0 chr12 25133862 . C G 275.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.70;MQ0=0;OQ=2313.16;QD=16.41;RankSumP=0.278291;SB=-917.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.421C>G;refseq.codonCoord=141;refseq.end=25133862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1455;refseq.name=NM_006152;refseq.name2=LRMP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L141V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-17;refseq.start=25133862;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr12 25153002 . G T 275.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=3864.64;QD=38.65;RankSumP=1.00000;SB=-852.96;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_2=c.1898C>A;refseq.codingCoordStr_3=c.1916C>A;refseq.codonCoord_2=633;refseq.codonCoord_3=639;refseq.end_1=25154317;refseq.end_2=25153002;refseq.end_3=25153002;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1980;refseq.mrnaCoord_3=1998;refseq.name2_1=CASC1;refseq.name2_2=CASC1;refseq.name2_3=CASC1;refseq.name_1=NM_001082972;refseq.name_2=NM_001082973;refseq.name_3=NM_018272;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A633E;refseq.proteinCoordStr_3=p.A639E;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=25152973;refseq.start_2=25153002;refseq.start_3=25153002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr12 25202756 . G T 202.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.49;MQ0=0;OQ=1606.44;QD=20.33;RankSumP=0.311733;SB=-557.08;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.289C>A;refseq.codingCoordStr_2=c.97C>A;refseq.codingCoordStr_3=c.115C>A;refseq.codonCoord_1=97;refseq.codonCoord_2=33;refseq.codonCoord_3=39;refseq.end_1=25202756;refseq.end_2=25202756;refseq.end_3=25202756;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=387;refseq.mrnaCoord_2=179;refseq.mrnaCoord_3=197;refseq.name2_1=CASC1;refseq.name2_2=CASC1;refseq.name2_3=CASC1;refseq.name_1=NM_001082972;refseq.name_2=NM_001082973;refseq.name_3=NM_018272;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R97S;refseq.proteinCoordStr_2=p.R33S;refseq.proteinCoordStr_3=p.R39S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=25202756;refseq.start_2=25202756;refseq.start_3=25202756;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr12 25259729 . C T 191.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.58;MQ0=0;OQ=8746.56;QD=42.88;RankSumP=1.00000;SB=-3549.81;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.483G>A;refseq.codonCoord_2=161;refseq.end_1=25269804;refseq.end_2=25259729;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=664;refseq.name2_1=KRAS;refseq.name2_2=KRAS;refseq.name_1=NM_004985;refseq.name_2=NM_033360;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R161R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=33;refseq.start_1=25254123;refseq.start_2=25259729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr12 25563026 . T A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=533;Dels=0.00;HRun=0;HaplotypeScore=20.23;MQ=98.89;MQ0=0;OQ=18776.65;QD=35.23;RankSumP=1.00000;SB=-9250.45;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.codingCoordStr_2=c.907A>T;refseq.codingCoordStr_3=c.1159A>T;refseq.codingCoordStr_4=c.1039A>T;refseq.codingCoordStr_5=c.1096A>T;refseq.codonCoord_2=303;refseq.codonCoord_3=387;refseq.codonCoord_4=347;refseq.codonCoord_5=366;refseq.end_1=25563026;refseq.end_2=25563026;refseq.end_3=25563026;refseq.end_4=25563026;refseq.end_5=25563026;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1285;refseq.mrnaCoord_2=910;refseq.mrnaCoord_3=1404;refseq.mrnaCoord_4=1284;refseq.mrnaCoord_5=1246;refseq.name2_1=IFLTD1;refseq.name2_2=IFLTD1;refseq.name2_3=IFLTD1;refseq.name2_4=IFLTD1;refseq.name2_5=IFLTD1;refseq.name_1=NR_027296;refseq.name_2=NM_001145727;refseq.name_3=NM_001145728;refseq.name_4=NM_001145729;refseq.name_5=NM_152590;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.T303S;refseq.proteinCoordStr_3=p.T387S;refseq.proteinCoordStr_4=p.T347S;refseq.proteinCoordStr_5=p.T366S;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.start_1=25563026;refseq.start_2=25563026;refseq.start_3=25563026;refseq.start_4=25563026;refseq.start_5=25563026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;set=Intersection GT 1/1 chr12 26166822 . G A 47.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.62;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.893C>T;refseq.codonCoord=298;refseq.end=26166822;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1184;refseq.name=NM_030762;refseq.name2=BHLHE41;refseq.positionType=CDS;refseq.proteinCoordStr=p.A298V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=547;refseq.start=26166822;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/1 chr12 26268499 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1196;Dels=0.00;HRun=1;HaplotypeScore=32.96;MQ=98.75;MQ0=0;OQ=24261.45;QD=20.29;RankSumP=0.370479;SB=-8312.87;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.-24T>C;refseq.codingCoordStr_2=c.286T>C;refseq.codonCoord_2=96;refseq.end_1=26268499;refseq.end_2=26268499;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=203;refseq.mrnaCoord_2=386;refseq.name2_1=SSPN;refseq.name2_2=SSPN;refseq.name_1=NM_001135823;refseq.name_2=NM_005086;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L96L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=26268499;refseq.start_2=26268499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr12 26539359 . C T 305.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.88;MQ0=0;OQ=12653.93;QD=43.63;RankSumP=1.00000;SB=-3422.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.5175G>A;refseq.codonCoord=1725;refseq.end=26539359;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5592;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1725Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=26539359;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr12 26641098 . G A 364.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.73;MQ0=0;OQ=7092.17;QD=20.38;RankSumP=0.133657;SB=-2123.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4239C>T;refseq.codonCoord=1413;refseq.end=26641098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4656;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1413D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=26641098;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr12 26676117 . G A 339.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=98.72;MQ0=0;OQ=5690.14;QD=20.69;RankSumP=0.108880;SB=-2417.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2883C>T;refseq.codonCoord=961;refseq.end=26676117;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H961H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-52;refseq.start=26676117;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 26698222 . G A 211.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=14.97;MQ=98.74;MQ0=0;OQ=5056.84;QD=22.68;RankSumP=0.152919;SB=-1988.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2694C>T;refseq.codonCoord=898;refseq.end=26698222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3111;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A898A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-47;refseq.start=26698222;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 26700679 . T G 205.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=8.05;MQ=98.59;MQ0=0;OQ=5128.95;QD=20.03;RankSumP=0.166127;SB=-1403.44;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2262A>C;refseq.codonCoord=754;refseq.end=26700679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2679;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T754T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=70;refseq.start=26700679;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr12 26702312 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.56;MQ0=0;OQ=1761.35;QD=16.01;RankSumP=0.219765;SB=-309.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1905A>G;refseq.codonCoord=635;refseq.end=26702312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2322;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S635S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=19;refseq.start=26702312;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr12 26759589 . T C 297.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.27;MQ0=0;OQ=2818.80;QD=18.67;RankSumP=0.441409;SB=-934.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.765A>G;refseq.codonCoord=255;refseq.end=26759589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_002223;refseq.name2=ITPR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E255E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=57;refseq.start=26759589;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr12 26955499 . C T 149.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=99.00;MQ0=0;OQ=1828.75;QD=17.93;RankSumP=0.309466;SB=-561.53;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1824G>A;refseq.codonCoord=608;refseq.end=26955499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2361;refseq.name=NM_018164;refseq.name2=C12orf11;refseq.positionType=CDS;refseq.proteinCoordStr=p.E608E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=19;refseq.start=26955499;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr12 27362133 . G A 446.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.85;MQ0=0;OQ=4017.06;QD=41.84;RankSumP=1.00000;SB=-1865.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.993G>A;refseq.codonCoord=331;refseq.end=27362133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_015000;refseq.name2=STK38L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T331T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=38;refseq.start=27362133;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 27692013 . G T 178.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=92.70;MQ0=3;OQ=3393.39;QD=37.29;RankSumP=1.00000;SB=-1378.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.442G>T;refseq.codingCoordStr_2=c.442G>T;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.end_1=27692013;refseq.end_2=27692013;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=819;refseq.mrnaCoord_2=819;refseq.name2_1=PPFIBP1;refseq.name2_2=PPFIBP1;refseq.name_1=NM_003622;refseq.name_2=NM_177444;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V148L;refseq.proteinCoordStr_2=p.V148L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-30;refseq.spliceDist_2=85;refseq.start_1=27692013;refseq.start_2=27692013;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr12 27737076 . C T 116.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.73;MQ0=0;OQ=2734.87;QD=14.17;RankSumP=0.444081;SB=-946.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3012C>T;refseq.codonCoord=1004;refseq.end=27737076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3389;refseq.name=NM_003622;refseq.name2=PPFIBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1004N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=81;refseq.start=27737076;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 27741062 . C T 406.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=3051.53;QD=42.38;RankSumP=1.00000;SB=-1421.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.300C>T;refseq.codonCoord=100;refseq.end=27741062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_001029874;refseq.name2=REP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S100S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=368;refseq.start=27741062;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr12 27741063 . A G 420.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=2884.15;QD=41.20;RankSumP=1.00000;SB=-1432.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.301A>G;refseq.codonCoord=101;refseq.end=27741063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001029874;refseq.name2=REP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.N101D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=369;refseq.start=27741063;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 27835931 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.896T>G;refseq.codonCoord=299;refseq.end=27835931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=973;refseq.name=NM_020782;refseq.name2=KLHDC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V299G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=24;refseq.start=27835931;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 28496693 . G A 194.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=4738.94;QD=19.42;RankSumP=0.479097;SB=-1523.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.940G>A;refseq.codonCoord=314;refseq.end=28496693;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_018318;refseq.name2=CCDC91;refseq.positionType=CDS;refseq.proteinCoordStr=p.V314M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=16;refseq.start=28496693;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr12 29556304 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2123T>G;refseq.codonCoord=708;refseq.end=29556304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2597;refseq.name=NM_175861;refseq.name2=TMTC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V708G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=17;refseq.start=29556304;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 30697255 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1987A>C;refseq.codonCoord=663;refseq.end=30697255;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2157;refseq.name=NM_006390;refseq.name2=IPO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T663P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=39;refseq.start=30697255;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 30759269 . C T 213.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=10.57;MQ=98.74;MQ0=0;OQ=10009.07;QD=18.99;RankSumP=0.204786;SB=-4061.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2541G>A;refseq.codingCoordStr_2=c.2391G>A;refseq.codingCoordStr_3=c.1539G>A;refseq.codonCoord_1=847;refseq.codonCoord_2=797;refseq.codonCoord_3=513;refseq.end_1=30759269;refseq.end_2=30759269;refseq.end_3=30759269;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3292;refseq.mrnaCoord_2=3142;refseq.mrnaCoord_3=3206;refseq.name2_1=CAPRIN2;refseq.name2_2=CAPRIN2;refseq.name2_3=CAPRIN2;refseq.name_1=NM_001002259;refseq.name_2=NM_023925;refseq.name_3=NM_032156;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V847V;refseq.proteinCoordStr_2=p.V797V;refseq.proteinCoordStr_3=p.V513V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=77;refseq.spliceDist_2=74;refseq.spliceDist_3=74;refseq.start_1=30759269;refseq.start_2=30759269;refseq.start_3=30759269;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr12 30770243 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=312;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=98.84;MQ0=0;OQ=7441.45;QD=23.85;RankSumP=0.0447005;SB=-2610.52;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1829C>G;refseq.codingCoordStr_2=c.1829C>G;refseq.codingCoordStr_3=c.830C>G;refseq.codonCoord_1=610;refseq.codonCoord_2=610;refseq.codonCoord_3=277;refseq.end_1=30770243;refseq.end_2=30770243;refseq.end_3=30770243;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2580;refseq.mrnaCoord_2=2580;refseq.mrnaCoord_3=2497;refseq.name2_1=CAPRIN2;refseq.name2_2=CAPRIN2;refseq.name2_3=CAPRIN2;refseq.name_1=NM_001002259;refseq.name_2=NM_023925;refseq.name_3=NM_032156;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P610R;refseq.proteinCoordStr_2=p.P610R;refseq.proteinCoordStr_3=p.P277R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.start_1=30770243;refseq.start_2=30770243;refseq.start_3=30770243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr12 30773076 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=594;Dels=0.00;HRun=0;HaplotypeScore=27.85;MQ=98.82;MQ0=0;OQ=10935.03;QD=18.41;RankSumP=0.242597;SB=-3336.65;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1555A>G;refseq.codingCoordStr_2=c.1555A>G;refseq.codingCoordStr_3=c.556A>G;refseq.codonCoord_1=519;refseq.codonCoord_2=519;refseq.codonCoord_3=186;refseq.end_1=30773076;refseq.end_2=30773076;refseq.end_3=30773076;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2306;refseq.mrnaCoord_2=2306;refseq.mrnaCoord_3=2223;refseq.name2_1=CAPRIN2;refseq.name2_2=CAPRIN2;refseq.name2_3=CAPRIN2;refseq.name_1=NM_001002259;refseq.name_2=NM_023925;refseq.name_3=NM_032156;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M519V;refseq.proteinCoordStr_2=p.M519V;refseq.proteinCoordStr_3=p.M186V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-228;refseq.spliceDist_2=-228;refseq.spliceDist_3=-228;refseq.start_1=30773076;refseq.start_2=30773076;refseq.start_3=30773076;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr12 30797625 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=1;HaplotypeScore=15.94;MQ=98.75;MQ0=0;OQ=6993.33;QD=21.65;RankSumP=0.441276;SB=-1295.26;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.340C>T;refseq.codingCoordStr_2=c.340C>T;refseq.codingCoordStr_3=c.-577C>T;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=30797625;refseq.end_2=30797625;refseq.end_3=30797625;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1091;refseq.mrnaCoord_2=1091;refseq.mrnaCoord_3=1091;refseq.name2_1=CAPRIN2;refseq.name2_2=CAPRIN2;refseq.name2_3=CAPRIN2;refseq.name_1=NM_001002259;refseq.name_2=NM_023925;refseq.name_3=NM_032156;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.P114S;refseq.proteinCoordStr_2=p.P114S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=30797625;refseq.start_2=30797625;refseq.start_3=30797625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr12 31008087 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=5.16080e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.144C>A;refseq.codonCoord=48;refseq.end=31008087;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_001080509;refseq.name2=TSPAN11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y48*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=60;refseq.start=31008087;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr12 31026745 . T C 149.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=12.10;MQ=97.79;MQ0=0;OQ=3092.03;QD=33.61;RankSumP=1.00000;SB=-1314.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.468T>C;refseq.codonCoord=156;refseq.end=31026745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_001080509;refseq.name2=TSPAN11;refseq.positionType=CDS;refseq.proteinCoordStr=p.C156C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=12;refseq.start=31026745;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr12 31026846 . T C 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.99;MQ0=0;OQ=691.66;QD=26.60;RankSumP=1.00000;SB=-85.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.569T>C;refseq.codonCoord=190;refseq.end=31026846;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_001080509;refseq.name2=TSPAN11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V190A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-47;refseq.start=31026846;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr12 31129245 . C T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=66;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=45.19;MQ0=15;OQ=54.57;QD=0.83;RankSumP=0.620455;SB=-0.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.556C>T;refseq.codingCoordStr_2=c.556C>T;refseq.codingCoordStr_3=c.556C>T;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.codonCoord_3=186;refseq.end_1=31129245;refseq.end_2=31129245;refseq.end_3=31129245;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=807;refseq.mrnaCoord_3=807;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R186W;refseq.proteinCoordStr_2=p.R186W;refseq.proteinCoordStr_3=p.R186W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.spliceDist_3=76;refseq.start_1=31129245;refseq.start_2=31129245;refseq.start_3=31129245;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=soap-filterIngatk GT 0/1 chr12 31138972 . C T 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.672619;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1431C>T;refseq.codingCoordStr_2=c.1431C>T;refseq.codingCoordStr_3=c.1431C>T;refseq.codonCoord_1=477;refseq.codonCoord_2=477;refseq.codonCoord_3=477;refseq.end_1=31138972;refseq.end_2=31138972;refseq.end_3=31138972;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1682;refseq.mrnaCoord_2=1682;refseq.mrnaCoord_3=1682;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T477T;refseq.proteinCoordStr_2=p.T477T;refseq.proteinCoordStr_3=p.T477T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=31138972;refseq.start_2=31138972;refseq.start_3=31138972;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=soap GT 0/1 chr12 31140890 . C A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.400000;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1574C>A;refseq.codingCoordStr_2=c.1574C>A;refseq.codingCoordStr_3=c.1574C>A;refseq.codonCoord_1=525;refseq.codonCoord_2=525;refseq.codonCoord_3=525;refseq.end_1=31140890;refseq.end_2=31140890;refseq.end_3=31140890;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1825;refseq.mrnaCoord_2=1825;refseq.mrnaCoord_3=1825;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P525H;refseq.proteinCoordStr_2=p.P525H;refseq.proteinCoordStr_3=p.P525H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=31140890;refseq.start_2=31140890;refseq.start_3=31140890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT 1/0 chr12 31142142 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=3;HaplotypeScore=4.72;MQ=20.57;MQ0=91;OQ=151.84;QD=0.73;SB=-39.60;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1819G>C;refseq.codingCoordStr_2=c.1819G>C;refseq.codingCoordStr_3=c.1819G>C;refseq.codonCoord_1=607;refseq.codonCoord_2=607;refseq.codonCoord_3=607;refseq.end_1=31142142;refseq.end_2=31142142;refseq.end_3=31142142;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2070;refseq.mrnaCoord_2=2070;refseq.mrnaCoord_3=2070;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A607P;refseq.proteinCoordStr_2=p.A607P;refseq.proteinCoordStr_3=p.A607P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=31142142;refseq.start_2=31142142;refseq.start_3=31142142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:172,35:50:-33.53,-15.06,-208.93:99 chr12 31145285 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2006A>C;refseq.codingCoordStr_2=c.2006A>C;refseq.codingCoordStr_3=c.2006A>C;refseq.codonCoord_1=669;refseq.codonCoord_2=669;refseq.codonCoord_3=669;refseq.end_1=31145285;refseq.end_2=31145285;refseq.end_3=31145285;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2257;refseq.mrnaCoord_2=2257;refseq.mrnaCoord_3=2257;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N669T;refseq.proteinCoordStr_2=p.N669T;refseq.proteinCoordStr_3=p.N669T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.start_1=31145285;refseq.start_2=31145285;refseq.start_3=31145285;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr12 31146494 . A G 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0556306;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2103A>G;refseq.codingCoordStr_2=c.2253A>G;refseq.codingCoordStr_3=c.2253A>G;refseq.codonCoord_1=701;refseq.codonCoord_2=751;refseq.codonCoord_3=751;refseq.end_1=31146494;refseq.end_2=31146494;refseq.end_3=31146494;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2354;refseq.mrnaCoord_2=2504;refseq.mrnaCoord_3=2504;refseq.name2_1=DDX11;refseq.name2_2=DDX11;refseq.name2_3=DDX11;refseq.name_1=NM_004399;refseq.name_2=NM_030653;refseq.name_3=NM_152438;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A701A;refseq.proteinCoordStr_2=p.A751A;refseq.proteinCoordStr_3=p.A751A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.start_1=31146494;refseq.start_2=31146494;refseq.start_3=31146494;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=soap GT 0/1 chr12 31835958 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=1;HaplotypeScore=19.42;MQ=44.73;MQ0=168;OQ=4374.22;QD=10.34;RankSumP=0.412317;SB=-733.74;SecondBestBaseQ=32;refseq.chr=chr12;refseq.codingCoordStr=c.*2T>G;refseq.end=31835958;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=485;refseq.name=NM_001013699;refseq.name2=H3F3C;refseq.positionType=utr3;refseq.spliceDist=485;refseq.start=31835958;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr12 32025331 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=23.89;MQ=98.71;MQ0=0;OQ=2525.09;QD=9.12;RankSumP=0.129711;SB=-414.57;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.175A>G;refseq.codonCoord=59;refseq.end=32025331;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=589;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.I59V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=253;refseq.start=32025331;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr12 32025507 . C T 278.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=98.87;MQ0=0;OQ=3170.53;QD=15.70;RankSumP=0.423214;SB=-1009.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.351C>T;refseq.codonCoord=117;refseq.end=32025507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.N117N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=429;refseq.start=32025507;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 32025905 . T C 267.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=98.57;MQ0=0;OQ=5982.63;QD=20.56;RankSumP=0.340842;SB=-1923.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.749T>C;refseq.codonCoord=250;refseq.end=32025905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.L250P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=827;refseq.start=32025905;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 32026210 . A G 159.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=3202.64;QD=15.93;RankSumP=0.348716;SB=-1211.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1054A>G;refseq.codonCoord=352;refseq.end=32026210;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1468;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S352G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1132;refseq.start=32026210;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr12 32026708 . T C 238.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=1;HaplotypeScore=7.97;MQ=98.95;MQ0=0;OQ=7168.95;QD=41.20;RankSumP=1.00000;SB=-2991.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1552T>C;refseq.codonCoord=518;refseq.end=32026708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1966;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S518P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1630;refseq.start=32026708;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr12 32027205 . A G 119.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2133.95;QD=13.09;RankSumP=0.452740;SB=-1068.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2049A>G;refseq.codonCoord=683;refseq.end=32027205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2463;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q683Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=2127;refseq.start=32027205;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr12 32028779 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=98.89;MQ0=0;OQ=5156.64;QD=30.16;RankSumP=0.474413;SB=-2315.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3623C>G;refseq.codonCoord=1208;refseq.end=32028779;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4037;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1208C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-1380;refseq.start=32028779;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr12 32029677 . A G 198.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=98.55;MQ0=0;OQ=2751.00;QD=13.49;RankSumP=0.464657;SB=-1361.03;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4521A>G;refseq.codonCoord=1507;refseq.end=32029677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4935;refseq.name=NM_018169;refseq.name2=C12orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1507E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-482;refseq.start=32029677;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr12 32620573 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.15A>C;refseq.codonCoord=5;refseq.end=32620573;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_139241;refseq.name2=FGD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K5N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-78;refseq.start=32620573;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr12 32626503 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.98;MQ0=0;OQ=2820.09;QD=11.42;RankSumP=0.0701616;SB=-1405.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.435C>T;refseq.codonCoord=145;refseq.end=32626503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_139241;refseq.name2=FGD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D145D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-166;refseq.start=32626503;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr12 32865670 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1900T>G;refseq.codingCoordStr_2=c.2032T>G;refseq.codonCoord_1=634;refseq.codonCoord_2=678;refseq.end_1=32865670;refseq.end_2=32865670;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2015;refseq.mrnaCoord_2=2147;refseq.name2_1=PKP2;refseq.name2_2=PKP2;refseq.name_1=NM_001005242;refseq.name_2=NM_004572;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W634G;refseq.proteinCoordStr_2=p.W678G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=32865670;refseq.start_2=32865670;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 32922339 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.742A>C;refseq.codingCoordStr_2=c.742A>C;refseq.codonCoord_1=248;refseq.codonCoord_2=248;refseq.end_1=32922339;refseq.end_2=32922339;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=857;refseq.mrnaCoord_2=857;refseq.name2_1=PKP2;refseq.name2_2=PKP2;refseq.name_1=NM_001005242;refseq.name_2=NM_004572;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T248P;refseq.proteinCoordStr_2=p.T248P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-293;refseq.spliceDist_2=-293;refseq.start_1=32922339;refseq.start_2=32922339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 33429446 . C T 257.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=3.50;MQ=98.80;MQ0=0;OQ=4461.10;QD=19.92;RankSumP=0.132792;SB=-1427.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1125G>A;refseq.codonCoord=375;refseq.end=33429446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_198992;refseq.name2=SYT10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P375P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=48;refseq.start=33429446;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr12 36998409 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=931;Dels=0.00;HRun=1;HaplotypeScore=21.66;MQ=22.19;MQ0=349;OQ=19878.63;QD=21.35;RankSumP=1.00000;SB=-9752.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.251C>G;refseq.codonCoord=84;refseq.end=36998409;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_001013620;refseq.name2=ALG10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A84G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=80;refseq.start=36998409;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr12 38013125 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.2500A>G;refseq.codingCoordStr_2=c.2539A>G;refseq.codingCoordStr_3=c.2431A>G;refseq.codingCoordStr_4=c.2500A>G;refseq.codonCoord_1=834;refseq.codonCoord_2=847;refseq.codonCoord_3=811;refseq.codonCoord_4=834;refseq.end_1=38013125;refseq.end_2=38013125;refseq.end_3=38013125;refseq.end_4=38013125;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2920;refseq.mrnaCoord_2=2959;refseq.mrnaCoord_3=2851;refseq.mrnaCoord_4=2920;refseq.name2_1=KIF21A;refseq.name2_2=KIF21A;refseq.name2_3=KIF21A;refseq.name2_4=KIF21A;refseq.name_1=NM_001173463;refseq.name_2=NM_001173464;refseq.name_3=NM_001173465;refseq.name_4=NM_017641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K834E;refseq.proteinCoordStr_2=p.K847E;refseq.proteinCoordStr_3=p.K811E;refseq.proteinCoordStr_4=p.K834E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.start_1=38013125;refseq.start_2=38013125;refseq.start_3=38013125;refseq.start_4=38013125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=FilteredInAll GT 1/0 chr12 38022184 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1683T>G;refseq.codingCoordStr_2=c.1722T>G;refseq.codingCoordStr_3=c.1683T>G;refseq.codingCoordStr_4=c.1683T>G;refseq.codonCoord_1=561;refseq.codonCoord_2=574;refseq.codonCoord_3=561;refseq.codonCoord_4=561;refseq.end_1=38022184;refseq.end_2=38022184;refseq.end_3=38022184;refseq.end_4=38022184;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2103;refseq.mrnaCoord_2=2142;refseq.mrnaCoord_3=2103;refseq.mrnaCoord_4=2103;refseq.name2_1=KIF21A;refseq.name2_2=KIF21A;refseq.name2_3=KIF21A;refseq.name2_4=KIF21A;refseq.name_1=NM_001173463;refseq.name_2=NM_001173464;refseq.name_3=NM_001173465;refseq.name_4=NM_017641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G561G;refseq.proteinCoordStr_2=p.G574G;refseq.proteinCoordStr_3=p.G561G;refseq.proteinCoordStr_4=p.G561G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=38022184;refseq.start_2=38022184;refseq.start_3=38022184;refseq.start_4=38022184;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr12 38905349 . G A 410.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=3980.36;QD=41.90;RankSumP=1.00000;SB=-1363.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.149G>A;refseq.codonCoord=50;refseq.end=38905349;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R50H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=38905349;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr12 38918058 . T C 405.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=3983.59;QD=41.07;RankSumP=1.00000;SB=-1138.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.457T>C;refseq.codonCoord=153;refseq.end=38918058;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L153L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=21;refseq.start=38918058;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 38937417 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1389T>G;refseq.codonCoord=463;refseq.end=38937417;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C463W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-30;refseq.start=38937417;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 38943967 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=4209.82;QD=23.39;RankSumP=0.342424;SB=-532.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1653C>G;refseq.codonCoord=551;refseq.end=38943967;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1774;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N551K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=38943967;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr12 38989178 . G A 187.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=98.47;MQ0=0;OQ=2651.35;QD=14.10;RankSumP=0.158334;SB=-558.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4193G>A;refseq.codonCoord=1398;refseq.end=38989178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4314;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1398H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=38989178;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 38989254 . G A 120.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=2;HaplotypeScore=3.05;MQ=98.67;MQ0=0;OQ=4141.25;QD=20.71;RankSumP=0.480759;SB=-1400.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4269G>A;refseq.codonCoord=1423;refseq.end=38989254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4390;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1423K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-49;refseq.start=38989254;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr12 39000101 . C A 263.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.92;MQ0=0;OQ=9808.39;QD=39.39;RankSumP=1.00000;SB=-4405.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4872C>A;refseq.codonCoord=1624;refseq.end=39000101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4993;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1624G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=45;refseq.start=39000101;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr12 39000140 . A G 321.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=98.94;MQ0=0;OQ=2976.62;QD=17.61;RankSumP=0.431280;SB=-1067.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4911A>G;refseq.codonCoord=1637;refseq.end=39000140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5032;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1637K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=84;refseq.start=39000140;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr12 39002527 . T C 356.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.38;MQ0=0;OQ=5478.57;QD=19.36;RankSumP=0.407345;SB=-1522.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.5457T>C;refseq.codonCoord=1819;refseq.end=39002527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5578;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1819G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-53;refseq.start=39002527;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr12 39043597 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=97.17;MQ0=0;OQ=1418.67;QD=11.92;RankSumP=0.181757;SB=-726.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.7155A>G;refseq.codonCoord=2385;refseq.end=39043597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7276;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2385G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-27;refseq.start=39043597;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr12 39044919 . T C 378.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.20;MQ0=0;OQ=3289.86;QD=38.70;RankSumP=1.00000;SB=-880.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.7190T>C;refseq.codonCoord=2397;refseq.end=39044919;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7311;refseq.name=NM_198578;refseq.name2=LRRK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M2397T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=39044919;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr12 39623702 . C T 255.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.95;MQ0=0;OQ=4068.99;QD=20.87;RankSumP=0.359654;SB=-1135.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1416C>T;refseq.codingCoordStr_2=c.1383C>T;refseq.codonCoord_1=472;refseq.codonCoord_2=461;refseq.end_1=39623702;refseq.end_2=39623702;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1529;refseq.mrnaCoord_2=1496;refseq.name2_1=CNTN1;refseq.name2_2=CNTN1;refseq.name_1=NM_001843;refseq.name_2=NM_175038;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N472N;refseq.proteinCoordStr_2=p.N461N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=39623702;refseq.start_2=39623702;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr12 40767999 . G A 202.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.77;MQ0=0;OQ=1365.75;QD=15.70;RankSumP=0.383878;SB=-260.51;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1086C>T;refseq.codingCoordStr_2=c.1179C>T;refseq.codonCoord_1=362;refseq.codonCoord_2=393;refseq.end_1=40767999;refseq.end_2=40767999;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1311;refseq.mrnaCoord_2=1404;refseq.name2_1=GXYLT1;refseq.name2_2=GXYLT1;refseq.name_1=NM_001099650;refseq.name_2=NM_173601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D362D;refseq.proteinCoordStr_2=p.D393D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=40767999;refseq.start_2=40767999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr12 40799097 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=94.56;MQ0=0;OQ=419.76;QD=1.87;SB=-120.47;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.365A>T;refseq.codingCoordStr_2=c.458A>T;refseq.codonCoord_1=122;refseq.codonCoord_2=153;refseq.end_1=40799097;refseq.end_2=40799097;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=683;refseq.name2_1=GXYLT1;refseq.name2_2=GXYLT1;refseq.name_1=NM_001099650;refseq.name_2=NM_173601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D122V;refseq.proteinCoordStr_2=p.D153V;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=40799097;refseq.start_2=40799097;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:197,28:224:-112.71,-67.45,-786.87:99 chr12 40799111 . A C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=92.59;MQ0=0;OQ=713.20;QD=2.98;SB=-299.27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.351T>G;refseq.codingCoordStr_2=c.444T>G;refseq.codonCoord_1=117;refseq.codonCoord_2=148;refseq.end_1=40799111;refseq.end_2=40799111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=576;refseq.mrnaCoord_2=669;refseq.name2_1=GXYLT1;refseq.name2_2=GXYLT1;refseq.name_1=NM_001099650;refseq.name_2=NM_173601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H117Q;refseq.proteinCoordStr_2=p.H148Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=40799111;refseq.start_2=40799111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:204,35:235:-145.38,-70.77,-720.27:99 chr12 40799177 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=358;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=83.20;MQ0=46;OQ=195.62;QD=0.55;SB=167.79;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.285A>T;refseq.codingCoordStr_2=c.378A>T;refseq.codonCoord_1=95;refseq.codonCoord_2=126;refseq.end_1=40799177;refseq.end_2=40799177;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=510;refseq.mrnaCoord_2=603;refseq.name2_1=GXYLT1;refseq.name2_2=GXYLT1;refseq.name_1=NM_001099650;refseq.name_2=NM_173601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R95S;refseq.proteinCoordStr_2=p.R126S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=40799177;refseq.start_2=40799177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:324,33:307:-115.29,-92.44,-1104.29:99 chr12 40799191 . C T 34.42 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=370;Dels=0.00;HRun=0;HaplotypeScore=8.70;MQ=84.44;MQ0=46;QD=0.09;SB=189.14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.271G>A;refseq.codingCoordStr_2=c.364G>A;refseq.codonCoord_1=91;refseq.codonCoord_2=122;refseq.end_1=40799191;refseq.end_2=40799191;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=496;refseq.mrnaCoord_2=589;refseq.name2_1=GXYLT1;refseq.name2_2=GXYLT1;refseq.name_1=NM_001099650;refseq.name_2=NM_173601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A91T;refseq.proteinCoordStr_2=p.A122T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=40799191;refseq.start_2=40799191;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:340,29:319:-104.95,-98.23,-1257.07:67.25 chr12 41140472 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=21.11;MQ=98.81;MQ0=0;OQ=5626.68;QD=17.15;RankSumP=0.256325;SB=-1666.09;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1902T>C;refseq.codingCoordStr_2=c.1902T>C;refseq.codingCoordStr_3=c.1902T>C;refseq.codingCoordStr_4=c.1902T>C;refseq.codonCoord_1=634;refseq.codonCoord_2=634;refseq.codonCoord_3=634;refseq.codonCoord_4=634;refseq.end_1=41140472;refseq.end_2=41140472;refseq.end_3=41140472;refseq.end_4=41140472;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2189;refseq.mrnaCoord_2=2188;refseq.mrnaCoord_3=2185;refseq.mrnaCoord_4=2256;refseq.name2_1=PRICKLE1;refseq.name2_2=PRICKLE1;refseq.name2_3=PRICKLE1;refseq.name2_4=PRICKLE1;refseq.name_1=NM_001144881;refseq.name_2=NM_001144882;refseq.name_3=NM_001144883;refseq.name_4=NM_153026;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S634S;refseq.proteinCoordStr_2=p.S634S;refseq.proteinCoordStr_3=p.S634S;refseq.proteinCoordStr_4=p.S634S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.spliceDist_1=263;refseq.spliceDist_2=263;refseq.spliceDist_3=263;refseq.spliceDist_4=263;refseq.start_1=41140472;refseq.start_2=41140472;refseq.start_3=41140472;refseq.start_4=41140472;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=Intersection GT 0/1 chr12 41140475 . A G 122.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=21.20;MQ=98.81;MQ0=0;OQ=6328.44;QD=19.18;RankSumP=0.100817;SB=-1591.06;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1899T>C;refseq.codingCoordStr_2=c.1899T>C;refseq.codingCoordStr_3=c.1899T>C;refseq.codingCoordStr_4=c.1899T>C;refseq.codonCoord_1=633;refseq.codonCoord_2=633;refseq.codonCoord_3=633;refseq.codonCoord_4=633;refseq.end_1=41140475;refseq.end_2=41140475;refseq.end_3=41140475;refseq.end_4=41140475;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2186;refseq.mrnaCoord_2=2185;refseq.mrnaCoord_3=2182;refseq.mrnaCoord_4=2253;refseq.name2_1=PRICKLE1;refseq.name2_2=PRICKLE1;refseq.name2_3=PRICKLE1;refseq.name2_4=PRICKLE1;refseq.name_1=NM_001144881;refseq.name_2=NM_001144882;refseq.name_3=NM_001144883;refseq.name_4=NM_153026;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F633F;refseq.proteinCoordStr_2=p.F633F;refseq.proteinCoordStr_3=p.F633F;refseq.proteinCoordStr_4=p.F633F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.spliceDist_1=260;refseq.spliceDist_2=260;refseq.spliceDist_3=260;refseq.spliceDist_4=260;refseq.start_1=41140475;refseq.start_2=41140475;refseq.start_3=41140475;refseq.start_4=41140475;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;refseq.variantCodon_4=TTC;set=Intersection GT 0/1 chr12 41146312 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.726T>G;refseq.codingCoordStr_2=c.726T>G;refseq.codingCoordStr_3=c.726T>G;refseq.codingCoordStr_4=c.726T>G;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.codonCoord_3=242;refseq.codonCoord_4=242;refseq.end_1=41146312;refseq.end_2=41146312;refseq.end_3=41146312;refseq.end_4=41146312;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1013;refseq.mrnaCoord_2=1012;refseq.mrnaCoord_3=1009;refseq.mrnaCoord_4=1080;refseq.name2_1=PRICKLE1;refseq.name2_2=PRICKLE1;refseq.name2_3=PRICKLE1;refseq.name2_4=PRICKLE1;refseq.name_1=NM_001144881;refseq.name_2=NM_001144882;refseq.name_3=NM_001144883;refseq.name_4=NM_153026;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C242W;refseq.proteinCoordStr_2=p.C242W;refseq.proteinCoordStr_3=p.C242W;refseq.proteinCoordStr_4=p.C242W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.spliceDist_4=-50;refseq.start_1=41146312;refseq.start_2=41146312;refseq.start_3=41146312;refseq.start_4=41146312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=FilteredInAll GT 0/1 chr12 42524941 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.220C>A;refseq.codonCoord=74;refseq.end=42524941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_032256;refseq.name2=TMEM117;refseq.positionType=CDS;refseq.proteinCoordStr=p.L74I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-58;refseq.start=42524941;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr12 43696342 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.84;MQ=99.00;MQ0=0;OQ=914.96;QD=11.02;RankSumP=0.352098;SB=-345.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1014T>C;refseq.codonCoord=338;refseq.end=43696342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1186;refseq.name=NM_001004329;refseq.name2=DBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A338A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=327;refseq.start=43696342;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 43703933 . T C 132.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.95;MQ0=0;OQ=1054.20;QD=14.44;RankSumP=0.317907;SB=-226.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.511A>G;refseq.codonCoord=171;refseq.end=43703933;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001004329;refseq.name2=DBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M171V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=12;refseq.start=43703933;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 43853249 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=163;Dels=0.00;HRun=0;HaplotypeScore=9.43;MQ=95.18;MQ0=3;OQ=2628.06;QD=16.12;RankSumP=0.495589;SB=-615.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1167C>T;refseq.codonCoord=389;refseq.end=43853249;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_015899;refseq.name2=PLEKHA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D389D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-136;refseq.start=43853249;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr12 43853283 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1133T>C;refseq.codonCoord=378;refseq.end=43853283;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1670;refseq.name=NM_015899;refseq.name2=PLEKHA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L378P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-170;refseq.start=43853283;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 43853905 . A T 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.292782;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.511T>A;refseq.codonCoord=171;refseq.end=43853905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1048;refseq.name=NM_015899;refseq.name2=PLEKHA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=788;refseq.start=43853905;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr12 44531824 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3651T>C;refseq.codonCoord=1217;refseq.end=44531824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3651;refseq.name=NM_152641;refseq.name2=ARID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1217L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-1123;refseq.start=44531824;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr12 44608760 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=608;Dels=0.00;HRun=1;HaplotypeScore=47.75;MQ=98.27;MQ0=0;OQ=226.45;QD=0.37;RankSumP=0.00000;SB=895.93;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.991A>C;refseq.codonCoord=331;refseq.end=44608760;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1278;refseq.name=NM_004719;refseq.name2=SFRS2IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T331P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=150;refseq.start=44608760;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr12 45455165 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=632;Dels=0.00;HRun=0;HaplotypeScore=28.20;MQ=98.73;MQ0=0;OQ=27054.44;QD=42.81;RankSumP=1.00000;SB=-6908.27;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1233C>T;refseq.codingCoordStr_2=c.1233C>T;refseq.codonCoord_1=411;refseq.codonCoord_2=411;refseq.end_1=45455165;refseq.end_2=45455165;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1440;refseq.mrnaCoord_2=1632;refseq.name2_1=SLC38A4;refseq.name2_2=SLC38A4;refseq.name_1=NM_001143824;refseq.name_2=NM_018018;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P411P;refseq.proteinCoordStr_2=p.P411P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=45455165;refseq.start_2=45455165;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr12 45757706 . G A 351.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=0;HaplotypeScore=8.87;MQ=98.77;MQ0=0;OQ=7833.79;QD=19.20;RankSumP=0.403064;SB=-2716.85;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1347C>T;refseq.codingCoordStr_2=c.1347C>T;refseq.codonCoord_1=449;refseq.codonCoord_2=449;refseq.end_1=45757706;refseq.end_2=45757706;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2002;refseq.mrnaCoord_2=1900;refseq.name2_1=AMIGO2;refseq.name2_2=AMIGO2;refseq.name_1=NM_001143668;refseq.name_2=NM_181847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P449P;refseq.proteinCoordStr_2=p.P449P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-1057;refseq.spliceDist_2=1410;refseq.start_1=45757706;refseq.start_2=45757706;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr12 45915635 . G T 247.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=10.67;MQ=98.41;MQ0=0;OQ=1890.70;QD=16.16;RankSumP=0.00917608;SB=-767.24;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.522G>T;refseq.codonCoord=174;refseq.end=45915635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1000;refseq.name=NM_138371;refseq.name2=FAM113B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G174G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=579;refseq.start=45915635;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr12 46376385 . G A 241.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=14.43;MQ=98.80;MQ0=0;OQ=5507.24;QD=20.47;RankSumP=0.255524;SB=-1291.07;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.486C>T;refseq.codingCoordStr_2=c.9C>T;refseq.codingCoordStr_3=c.486C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=3;refseq.codonCoord_3=162;refseq.end_1=46376385;refseq.end_2=46376385;refseq.end_3=46376385;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=602;refseq.mrnaCoord_2=443;refseq.mrnaCoord_3=602;refseq.name2_1=RPAP3;refseq.name2_2=RPAP3;refseq.name2_3=RPAP3;refseq.name_1=NM_001146075;refseq.name_2=NM_001146076;refseq.name_3=NM_024604;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A162A;refseq.proteinCoordStr_2=p.A3A;refseq.proteinCoordStr_3=p.A162A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=46376385;refseq.start_2=46376385;refseq.start_3=46376385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr12 46430018 . A C 0.03 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=122;Dels=0.00;HRun=1;HaplotypeScore=13.72;MQ=97.30;MQ0=0;OQ=124.52;QD=1.02;RankSumP=0.00000;SB=149.51;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.779T>G;refseq.codingCoordStr_2=c.653T>G;refseq.codingCoordStr_3=c.653T>G;refseq.codonCoord_1=260;refseq.codonCoord_2=218;refseq.codonCoord_3=218;refseq.end_1=46430018;refseq.end_2=46430018;refseq.end_3=46430018;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1329;refseq.mrnaCoord_2=1093;refseq.mrnaCoord_3=863;refseq.name2_1=RAPGEF3;refseq.name2_2=RAPGEF3;refseq.name2_3=RAPGEF3;refseq.name_1=NM_001098531;refseq.name_2=NM_001098532;refseq.name_3=NM_006105;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V260G;refseq.proteinCoordStr_2=p.V218G;refseq.proteinCoordStr_3=p.V218G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=46430018;refseq.start_2=46430018;refseq.start_3=46430018;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 0/1 chr12 46431192 . T C 137.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=97.86;MQ0=0;OQ=443.85;QD=34.14;RankSumP=1.00000;SB=-120.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.577A>G;refseq.codingCoordStr_2=c.451A>G;refseq.codingCoordStr_3=c.451A>G;refseq.codonCoord_1=193;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.end_1=46431192;refseq.end_2=46431192;refseq.end_3=46431192;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=891;refseq.mrnaCoord_3=661;refseq.name2_1=RAPGEF3;refseq.name2_2=RAPGEF3;refseq.name2_3=RAPGEF3;refseq.name_1=NM_001098531;refseq.name_2=NM_001098532;refseq.name_3=NM_006105;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R193G;refseq.proteinCoordStr_2=p.R151G;refseq.proteinCoordStr_3=p.R151G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.spliceDist_3=75;refseq.start_1=46431192;refseq.start_2=46431192;refseq.start_3=46431192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/1 chr12 46471715 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=84;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=96.86;MQ0=0;OQ=1158.29;QD=13.79;RankSumP=0.0457986;SB=-482.46;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1743G>A;refseq.codingCoordStr_2=c.1854G>A;refseq.codonCoord_1=581;refseq.codonCoord_2=618;refseq.end_1=46471715;refseq.end_2=46471715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1938;refseq.mrnaCoord_2=2049;refseq.name2_1=HDAC7;refseq.name2_2=HDAC7;refseq.name_1=NM_001098416;refseq.name_2=NM_015401;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S581S;refseq.proteinCoordStr_2=p.S618S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=46471715;refseq.start_2=46471715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr12 46476311 . C T 242.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=1737.99;QD=15.66;RankSumP=0.321545;SB=-857.89;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.741G>A;refseq.codingCoordStr_2=c.741G>A;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.end_1=46476311;refseq.end_2=46476311;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=936;refseq.mrnaCoord_2=936;refseq.name2_1=HDAC7;refseq.name2_2=HDAC7;refseq.name_1=NM_001098416;refseq.name_2=NM_015401;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G247G;refseq.proteinCoordStr_2=p.G247G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=46476311;refseq.start_2=46476311;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr12 46478978 . G T 25.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=12;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=99.00;MQ0=0;QD=2.12;RankSumP=0.609091;SB=-37.92;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.115C>A;refseq.codingCoordStr_2=c.115C>A;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=46478978;refseq.end_2=46478978;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=310;refseq.mrnaCoord_2=310;refseq.name2_1=HDAC7;refseq.name2_2=HDAC7;refseq.name_1=NM_001098416;refseq.name_2=NM_015401;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P39T;refseq.proteinCoordStr_2=p.P39T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=46478978;refseq.start_2=46478978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr12 46525024 . A G 129.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=11.75;MQ=98.37;MQ0=0;OQ=3922.80;QD=24.99;RankSumP=1.00000;SB=-993.52;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1056T>C;refseq.codingCoordStr_2=c.1056T>C;refseq.codonCoord_1=352;refseq.codonCoord_2=352;refseq.end_1=46525024;refseq.end_2=46525024;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1216;refseq.mrnaCoord_2=1338;refseq.name2_1=VDR;refseq.name2_2=VDR;refseq.name_1=NM_000376;refseq.name_2=NM_001017535;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I352I;refseq.proteinCoordStr_2=p.I352I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=46525024;refseq.start_2=46525024;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr12 46545199 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.175A>C;refseq.codingCoordStr_2=c.175A>C;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=46545199;refseq.end_2=46545199;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=335;refseq.mrnaCoord_2=457;refseq.name2_1=VDR;refseq.name2_2=VDR;refseq.name_1=NM_000376;refseq.name_2=NM_001017535;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T59P;refseq.proteinCoordStr_2=p.T59P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=46545199;refseq.start_2=46545199;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 46545226 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.148C>G;refseq.codingCoordStr_2=c.148C>G;refseq.codonCoord_1=50;refseq.codonCoord_2=50;refseq.end_1=46545226;refseq.end_2=46545226;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=308;refseq.mrnaCoord_2=430;refseq.name2_1=VDR;refseq.name2_2=VDR;refseq.name_1=NM_000376;refseq.name_2=NM_001017535;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R50G;refseq.proteinCoordStr_2=p.R50G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=46545226;refseq.start_2=46545226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr12 46559162 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=98.17;MQ0=0;OQ=1011.84;QD=11.37;RankSumP=0.303953;SB=-346.19;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2T>C;refseq.codingCoordStr_2=c.2T>C;refseq.codonCoord_1=1;refseq.codonCoord_2=1;refseq.end_1=46559162;refseq.end_2=46559162;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=162;refseq.mrnaCoord_2=284;refseq.name2_1=VDR;refseq.name2_2=VDR;refseq.name_1=NM_000376;refseq.name_2=NM_001017535;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1T;refseq.proteinCoordStr_2=p.M1T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=46559162;refseq.start_2=46559162;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr12 46646184 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.457A>C;refseq.codingCoordStr_2=c.457A>C;refseq.codingCoordStr_3=c.457A>C;refseq.codingCoordStr_4=c.457A>C;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.codonCoord_3=153;refseq.codonCoord_4=153;refseq.end_1=46646184;refseq.end_2=46646184;refseq.end_3=46646184;refseq.end_4=46646184;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=572;refseq.mrnaCoord_2=643;refseq.mrnaCoord_3=643;refseq.mrnaCoord_4=572;refseq.name2_1=TMEM106C;refseq.name2_2=TMEM106C;refseq.name2_3=TMEM106C;refseq.name2_4=TMEM106C;refseq.name_1=NM_001143841;refseq.name_2=NM_001143842;refseq.name_3=NM_001143843;refseq.name_4=NM_024056;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T153P;refseq.proteinCoordStr_2=p.T153P;refseq.proteinCoordStr_3=p.T153P;refseq.proteinCoordStr_4=p.T153P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-39;refseq.spliceDist_2=46;refseq.spliceDist_3=-39;refseq.spliceDist_4=46;refseq.start_1=46646184;refseq.start_2=46646184;refseq.start_3=46646184;refseq.start_4=46646184;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr12 46661835 . A G 145.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.17;MQ0=0;OQ=222.59;QD=15.90;RankSumP=0.120130;SB=-130.65;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2400T>C;refseq.codingCoordStr_2=c.2193T>C;refseq.codonCoord_1=800;refseq.codonCoord_2=731;refseq.end_1=46661835;refseq.end_2=46661835;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2581;refseq.mrnaCoord_2=2374;refseq.name2_1=COL2A1;refseq.name2_2=COL2A1;refseq.name_1=NM_001844;refseq.name_2=NM_033150;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N800N;refseq.proteinCoordStr_2=p.N731N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=46661835;refseq.start_2=46661835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr12 46662558 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=99.00;MQ0=0;OQ=674.91;QD=23.27;RankSumP=0.610965;SB=-209.24;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2295C>T;refseq.codingCoordStr_2=c.2088C>T;refseq.codonCoord_1=765;refseq.codonCoord_2=696;refseq.end_1=46662558;refseq.end_2=46662558;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2476;refseq.mrnaCoord_2=2269;refseq.name2_1=COL2A1;refseq.name2_2=COL2A1;refseq.name_1=NM_001844;refseq.name_2=NM_033150;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G765G;refseq.proteinCoordStr_2=p.G696G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=46662558;refseq.start_2=46662558;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr12 46673874 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.909T>G;refseq.codingCoordStr_2=c.702T>G;refseq.codonCoord_1=303;refseq.codonCoord_2=234;refseq.end_1=46673874;refseq.end_2=46673874;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1090;refseq.mrnaCoord_2=883;refseq.name2_1=COL2A1;refseq.name2_2=COL2A1;refseq.name_1=NM_001844;refseq.name_2=NM_033150;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G303G;refseq.proteinCoordStr_2=p.G234G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=46673874;refseq.start_2=46673874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 46684347 . T A 36.69 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.51;MQ0=0;QD=9.17;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.25A>T;refseq.codingCoordStr_2=c.25A>T;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.end_1=46684347;refseq.end_2=46684347;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=206;refseq.mrnaCoord_2=206;refseq.name2_1=COL2A1;refseq.name2_2=COL2A1;refseq.name_1=NM_001844;refseq.name_2=NM_033150;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T9S;refseq.proteinCoordStr_2=p.T9S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=46684347;refseq.start_2=46684347;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=FilteredInAll GT 1/1 chr12 46813453 . C T 199.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=10.51;MQ=98.73;MQ0=0;OQ=10057.54;QD=21.31;RankSumP=0.184122;SB=-4249.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.516C>T;refseq.codingCoordStr_2=c.729C>T;refseq.codingCoordStr_3=c.516C>T;refseq.codingCoordStr_4=c.516C>T;refseq.codonCoord_1=172;refseq.codonCoord_2=243;refseq.codonCoord_3=172;refseq.codonCoord_4=172;refseq.end_1=46813453;refseq.end_2=46813453;refseq.end_3=46813453;refseq.end_4=46813453;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=701;refseq.mrnaCoord_2=1003;refseq.mrnaCoord_3=555;refseq.mrnaCoord_4=644;refseq.name2_1=PFKM;refseq.name2_2=PFKM;refseq.name2_3=PFKM;refseq.name2_4=PFKM;refseq.name_1=NM_000289;refseq.name_2=NM_001166686;refseq.name_3=NM_001166687;refseq.name_4=NM_001166688;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T172T;refseq.proteinCoordStr_2=p.T243T;refseq.proteinCoordStr_3=p.T172T;refseq.proteinCoordStr_4=p.T172T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.spliceDist_3=-78;refseq.spliceDist_4=-78;refseq.start_1=46813453;refseq.start_2=46813453;refseq.start_3=46813453;refseq.start_4=46813453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 0/1 chr12 46820794 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1214T>G;refseq.codingCoordStr_2=c.1427T>G;refseq.codingCoordStr_3=c.1214T>G;refseq.codingCoordStr_4=c.1214T>G;refseq.codonCoord_1=405;refseq.codonCoord_2=476;refseq.codonCoord_3=405;refseq.codonCoord_4=405;refseq.end_1=46820794;refseq.end_2=46820794;refseq.end_3=46820794;refseq.end_4=46820794;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1399;refseq.mrnaCoord_2=1701;refseq.mrnaCoord_3=1253;refseq.mrnaCoord_4=1342;refseq.name2_1=PFKM;refseq.name2_2=PFKM;refseq.name2_3=PFKM;refseq.name2_4=PFKM;refseq.name_1=NM_000289;refseq.name_2=NM_001166686;refseq.name_3=NM_001166687;refseq.name_4=NM_001166688;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V405G;refseq.proteinCoordStr_2=p.V476G;refseq.proteinCoordStr_3=p.V405G;refseq.proteinCoordStr_4=p.V405G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.start_1=46820794;refseq.start_2=46820794;refseq.start_3=46820794;refseq.start_4=46820794;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr12 46825749 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=18.40;MQ=98.85;MQ0=0;OQ=5120.88;QD=14.30;RankSumP=0.265194;SB=-1028.97;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.2334T>G;refseq.codingCoordStr_2=c.2547T>G;refseq.codingCoordStr_3=c.2334T>G;refseq.codingCoordStr_4=c.2334T>G;refseq.codonCoord_1=778;refseq.codonCoord_2=849;refseq.codonCoord_3=778;refseq.codonCoord_4=778;refseq.end_1=46825749;refseq.end_2=46825749;refseq.end_3=46825749;refseq.end_4=46825749;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2519;refseq.mrnaCoord_2=2821;refseq.mrnaCoord_3=2373;refseq.mrnaCoord_4=2462;refseq.name2_1=PFKM;refseq.name2_2=PFKM;refseq.name2_3=PFKM;refseq.name2_4=PFKM;refseq.name_1=NM_000289;refseq.name_2=NM_001166686;refseq.name_3=NM_001166687;refseq.name_4=NM_001166688;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A778A;refseq.proteinCoordStr_2=p.A849A;refseq.proteinCoordStr_3=p.A778A;refseq.proteinCoordStr_4=p.A778A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.spliceDist_3=136;refseq.spliceDist_4=136;refseq.start_1=46825749;refseq.start_2=46825749;refseq.start_3=46825749;refseq.start_4=46825749;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr12 46864592 . A C 243.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=94.55;MQ0=0;OQ=239.34;QD=17.10;RankSumP=1.00000;SB=-92.14;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.420A>C;refseq.codonCoord=140;refseq.end=46864592;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_001013635;refseq.name2=C12orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.E140D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=960;refseq.start=46864592;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/1 chr12 46864709 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.37;MQ0=0;OQ=690.28;QD=19.17;RankSumP=0.734606;SB=-126.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.537C>T;refseq.codonCoord=179;refseq.end=46864709;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_001013635;refseq.name2=C12orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.D179D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1077;refseq.start=46864709;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr12 47009591 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=5.71;MQ=97.13;MQ0=0;OQ=799.21;QD=14.53;RankSumP=0.0953284;SB=-233.66;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.250C>G;refseq.codonCoord=84;refseq.end=47009591;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_181788;refseq.name2=H1FNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R84G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=562;refseq.start=47009591;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr12 47010051 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.07;MQ0=0;OQ=624.38;QD=15.23;RankSumP=0.0792907;SB=-190.24;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.710C>T;refseq.codonCoord=237;refseq.end=47010051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_181788;refseq.name2=H1FNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S237F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-279;refseq.start=47010051;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr12 47023252 . T G 243.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=99.00;MQ0=0;OQ=5005.78;QD=15.74;RankSumP=0.0976126;SB=-1302.93;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1046A>C;refseq.codingCoordStr_2=c.1019A>C;refseq.codingCoordStr_3=c.1088A>C;refseq.codonCoord_1=349;refseq.codonCoord_2=340;refseq.codonCoord_3=363;refseq.end_1=47023252;refseq.end_2=47023252;refseq.end_3=47023252;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1177;refseq.mrnaCoord_2=1083;refseq.mrnaCoord_3=1350;refseq.name2_1=ZNF641;refseq.name2_2=ZNF641;refseq.name2_3=ZNF641;refseq.name_1=NM_001172681;refseq.name_2=NM_001172682;refseq.name_3=NM_152320;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q349P;refseq.proteinCoordStr_2=p.Q340P;refseq.proteinCoordStr_3=p.Q363P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=526;refseq.spliceDist_2=526;refseq.spliceDist_3=526;refseq.start_1=47023252;refseq.start_2=47023252;refseq.start_3=47023252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr12 47023512 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=4;HaplotypeScore=1.95;MQ=98.90;MQ0=0;OQ=1649.76;QD=11.70;RankSumP=0.231161;SB=-598.29;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.786T>G;refseq.codingCoordStr_2=c.759T>G;refseq.codingCoordStr_3=c.828T>G;refseq.codonCoord_1=262;refseq.codonCoord_2=253;refseq.codonCoord_3=276;refseq.end_1=47023512;refseq.end_2=47023512;refseq.end_3=47023512;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=917;refseq.mrnaCoord_2=823;refseq.mrnaCoord_3=1090;refseq.name2_1=ZNF641;refseq.name2_2=ZNF641;refseq.name2_3=ZNF641;refseq.name_1=NM_001172681;refseq.name_2=NM_001172682;refseq.name_3=NM_152320;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G262G;refseq.proteinCoordStr_2=p.G253G;refseq.proteinCoordStr_3=p.G276G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=266;refseq.spliceDist_2=266;refseq.spliceDist_3=266;refseq.start_1=47023512;refseq.start_2=47023512;refseq.start_3=47023512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 0/1 chr12 47174861 . C T 273.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.73;MQ0=0;OQ=11351.68;QD=41.13;RankSumP=1.00000;SB=-4978.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.256C>T;refseq.codonCoord=86;refseq.end=47174861;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_152319;refseq.name2=C12orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.P86S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=14;refseq.start=47174861;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr12 47174956 . C G 285.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.97;MQ0=0;OQ=6747.45;QD=46.22;RankSumP=1.00000;SB=-1974.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.351C>G;refseq.codonCoord=117;refseq.end=47174956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=482;refseq.name=NM_152319;refseq.name2=C12orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.L117L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-74;refseq.start=47174956;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 47205823 . A G 93.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=532;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.67;MQ0=0;OQ=20127.45;QD=37.83;RankSumP=1.00000;SB=-9731.63;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.142A>G;refseq.codonCoord=48;refseq.end=47205823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_001005203;refseq.name2=OR8S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M48V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=142;refseq.start=47205823;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 47205926 . T C 340.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=98.80;MQ0=0;OQ=10203.25;QD=41.99;RankSumP=1.00000;SB=-3974.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.245T>C;refseq.codonCoord=82;refseq.end=47205926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_001005203;refseq.name2=OR8S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=245;refseq.start=47205926;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr12 47205927 . G A 234.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.80;MQ0=0;OQ=10418.17;QD=42.87;RankSumP=1.00000;SB=-4197.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.246G>A;refseq.codonCoord=82;refseq.end=47205927;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_001005203;refseq.name2=OR8S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=246;refseq.start=47205927;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr12 47206063 . C T 235.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.46;MQ0=0;OQ=18118.13;QD=41.56;RankSumP=1.00000;SB=-7118.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.382C>T;refseq.codonCoord=128;refseq.end=47206063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_001005203;refseq.name2=OR8S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=382;refseq.start=47206063;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr12 47249252 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.172C>A;refseq.codonCoord=58;refseq.end=47249252;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_002289;refseq.name2=LALBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q58K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=39;refseq.start=47249252;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr12 47334530 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.end_1=47334980;refseq.end_2=47334530;refseq.end_3=47334530;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=39;refseq.mrnaCoord_3=51;refseq.name2_1=C12orf41;refseq.name2_2=SNORA34;refseq.name2_3=MIR1291;refseq.name_1=NM_017822;refseq.name_2=NR_002968;refseq.name_3=NR_031623;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_2=39;refseq.spliceDist_3=-37;refseq.start_1=47334236;refseq.start_2=47334530;refseq.start_3=47334530;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr12 47373230 . G A 356.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.78;MQ0=0;OQ=8918.62;QD=18.74;RankSumP=0.290188;SB=-2518.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2034C>T;refseq.codonCoord=678;refseq.end=47373230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2357;refseq.name=NM_001240;refseq.name2=CCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P678P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-212;refseq.start=47373230;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr12 47373857 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1407A>G;refseq.codonCoord=469;refseq.end=47373857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1730;refseq.name=NM_001240;refseq.name2=CCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G469G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=630;refseq.start=47373857;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 47373860 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=170;Dels=0.00;HRun=2;HaplotypeScore=22.17;MQ=96.54;MQ0=0;OQ=278.44;QD=1.64;RankSumP=0.00000;SB=170.54;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1404T>G;refseq.codonCoord=468;refseq.end=47373860;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1727;refseq.name=NM_001240;refseq.name2=CCNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G468G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=627;refseq.start=47373860;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 47449083 . A C 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.77189e-06;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.3285T>G;refseq.codingCoordStr_2=c.3126T>G;refseq.codonCoord_1=1095;refseq.codonCoord_2=1042;refseq.end_1=47449083;refseq.end_2=47449083;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3945;refseq.mrnaCoord_2=3262;refseq.name2_1=ADCY6;refseq.name2_2=ADCY6;refseq.name_1=NM_015270;refseq.name_2=NM_020983;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1095G;refseq.proteinCoordStr_2=p.G1042G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=47449083;refseq.start_2=47449083;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 47463380 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.72;MQ0=0;OQ=849.22;QD=12.13;RankSumP=0.0350850;SB=-38.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.105A>C;refseq.codingCoordStr_2=c.105A>C;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=47463380;refseq.end_2=47463380;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=765;refseq.mrnaCoord_2=241;refseq.name2_1=ADCY6;refseq.name2_2=ADCY6;refseq.name_1=NM_015270;refseq.name_2=NM_020983;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A35A;refseq.proteinCoordStr_2=p.A35A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-760;refseq.spliceDist_2=109;refseq.start_1=47463380;refseq.start_2=47463380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr12 47507889 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=1501.72;QD=18.77;RankSumP=0.0527708;SB=-164.60;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1395G>A;refseq.codonCoord=465;refseq.end=47507889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1596;refseq.name=NM_000725;refseq.name2=CACNB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E465E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=255;refseq.start=47507889;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr12 47516302 . T G 190.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=7.60;MQ=98.07;MQ0=1;OQ=6534.76;QD=17.85;RankSumP=0.105673;SB=-2463.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1251A>C;refseq.codonCoord=417;refseq.end=47516302;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1342;refseq.name=NM_004818;refseq.name2=DDX23;refseq.positionType=CDS;refseq.proteinCoordStr=p.I417I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=15;refseq.start=47516302;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr12 47542065 . G C 278.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=7.29;MQ=98.71;MQ0=0;OQ=4410.16;QD=18.38;RankSumP=0.354237;SB=-625.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.312C>G;refseq.codonCoord=104;refseq.end=47542065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=415;refseq.name=NM_014470;refseq.name2=RND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=47542065;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 47621029 . G C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=337;Dels=0.00;HRun=4;HaplotypeScore=6.14;MQ=98.88;MQ0=0;OQ=15385.79;QD=45.66;RankSumP=1.00000;SB=-7177.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.117C>G;refseq.codonCoord=39;refseq.end=47621029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_001659;refseq.name2=ARF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L39L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-32;refseq.start=47621029;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 47648275 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=1.51586e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.432T>G;refseq.codonCoord=144;refseq.end=47648275;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=778;refseq.name=NM_003394;refseq.name2=WNT10B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C144W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=95;refseq.start=47648275;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr12 47808084 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1280C>G;refseq.codonCoord=427;refseq.end=47808084;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1501;refseq.name=NM_006082;refseq.name2=TUBA1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A427G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-252;refseq.start=47808084;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr12 47977324 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.78;MQ0=0;OQ=2781.83;QD=17.28;RankSumP=0.130051;SB=-1053.81;SecondBestBaseQ=29;refseq.chr=chr12;refseq.codingCoordStr=c.996+1;refseq.end=47977324;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_006262;refseq.name2=PRPH;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=47977324;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr12 48204930 . A C 29.72 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=84;Dels=0.00;HRun=2;HaplotypeScore=9.30;MQ=97.61;MQ0=0;QD=0.35;RankSumP=0.00000;SB=95.30;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1310A>C;refseq.codonCoord=437;refseq.end=48204930;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2299;refseq.name=NM_023071;refseq.name2=SPATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y437S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-17;refseq.start=48204930;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 48239799 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1022T>G;refseq.codingCoordStr_2=c.983T>G;refseq.codonCoord_1=341;refseq.codonCoord_2=328;refseq.end_1=48239799;refseq.end_2=48239799;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=1174;refseq.name2_1=MCRS1;refseq.name2_2=MCRS1;refseq.name_1=NM_001012300;refseq.name_2=NM_006337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V341G;refseq.proteinCoordStr_2=p.V328G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=48239799;refseq.start_2=48239799;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 48280206 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.1484A>G;refseq.codonCoord_2=495;refseq.end_1=48280206;refseq.end_2=48280206;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1814;refseq.mrnaCoord_2=1657;refseq.name2_1=FAM186B;refseq.name2_2=FAM186B;refseq.name_1=NR_027450;refseq.name_2=NM_032130;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E495G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-688;refseq.spliceDist_2=-688;refseq.start_1=48280206;refseq.start_2=48280206;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 48280524 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.1166A>C;refseq.codonCoord_2=389;refseq.end_1=48280524;refseq.end_2=48280524;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1496;refseq.mrnaCoord_2=1339;refseq.name2_1=FAM186B;refseq.name2_2=FAM186B;refseq.name_1=NR_027450;refseq.name_2=NM_032130;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H389P;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=661;refseq.spliceDist_2=661;refseq.start_1=48280524;refseq.start_2=48280524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 48630961 . C T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.334585;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=48630961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_000486;refseq.name2=AQP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G27G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=171;refseq.start=48630961;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr12 48631083 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.203A>C;refseq.codonCoord=68;refseq.end=48631083;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_000486;refseq.name2=AQP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N68T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-158;refseq.start=48631083;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr12 48634345 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.45;MQ0=0;OQ=647.17;QD=13.48;RankSumP=0.741847;SB=-183.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=48634345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_000486;refseq.name2=AQP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S167S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-25;refseq.start=48634345;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr12 48644159 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.546C>G;refseq.codonCoord=182;refseq.end=48644159;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1068;refseq.name=NM_001651;refseq.name2=AQP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C182W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=18;refseq.start=48644159;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 48654813 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.579C>G;refseq.codonCoord=193;refseq.end=48654813;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_001652;refseq.name2=AQP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C193W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=18;refseq.start=48654813;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 48738975 . C G 349.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.31;MQ0=0;OQ=2991.67;QD=40.98;RankSumP=1.00000;SB=-409.20;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.159C>G;refseq.codingCoordStr_2=c.159C>G;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=48738975;refseq.end_2=48738975;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=388;refseq.mrnaCoord_2=388;refseq.name2_1=ACCN2;refseq.name2_2=ACCN2;refseq.name_1=NM_001095;refseq.name_2=NM_020039;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S53S;refseq.proteinCoordStr_2=p.S53S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.start_1=48738975;refseq.start_2=48738975;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr12 48739957 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.511T>C;refseq.codingCoordStr_2=c.511T>C;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.end_1=48739957;refseq.end_2=48739957;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=740;refseq.mrnaCoord_2=740;refseq.name2_1=ACCN2;refseq.name2_2=ACCN2;refseq.name_1=NM_001095;refseq.name_2=NM_020039;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S171P;refseq.proteinCoordStr_2=p.S171P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=48739957;refseq.start_2=48739957;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 48789536 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=13.80;MQ=98.91;MQ0=0;OQ=7437.84;QD=22.14;RankSumP=0.0141091;SB=-2660.62;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1017C>T;refseq.codonCoord=339;refseq.end=48789536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_005276;refseq.name2=GPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I339I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=64;refseq.start=48789536;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr12 48824082 . A G 160.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=642;Dels=0.00;HRun=1;HaplotypeScore=6.21;MQ=98.94;MQ0=0;OQ=12858.69;QD=20.03;RankSumP=0.354682;SB=-2850.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.223T>C;refseq.codonCoord=75;refseq.end=48824082;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_147190;refseq.name2=LASS5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C75R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=26;refseq.start=48824082;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr12 49354676 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=213;Dels=0.00;HRun=1;HaplotypeScore=5.79;MQ=98.89;MQ0=0;OQ=4901.68;QD=23.01;RankSumP=0.470303;SB=-1404.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.793G>A;refseq.codonCoord=265;refseq.end=49354676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_173602;refseq.name2=DIP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D265N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=49354676;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr12 49419609 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0214251;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4327C>A;refseq.codonCoord=1443;refseq.end=49419609;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4483;refseq.name=NM_173602;refseq.name2=DIP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1443R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-28;refseq.start=49419609;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr12 49421542 . T C 273.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=98.66;MQ0=0;OQ=14265.97;QD=37.84;RankSumP=1.00000;SB=-6128.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4431T>C;refseq.codonCoord=1477;refseq.end=49421542;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4587;refseq.name=NM_173602;refseq.name2=DIP2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1477I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-48;refseq.start=49421542;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 49670991 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=359;Dels=0.00;HRun=2;HaplotypeScore=29.67;MQ=97.23;MQ0=0;OQ=311.75;QD=0.87;RankSumP=0.00000;SB=501.73;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1429C>G;refseq.codonCoord=477;refseq.end=49670991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1574;refseq.name=NM_000617;refseq.name2=SLC11A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R477G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=49670991;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 49688626 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.83A>C;refseq.codonCoord=28;refseq.end=49688626;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_000617;refseq.name2=SLC11A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N28T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=49;refseq.start=49688626;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr12 49729211 . G A 369.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=8.43;MQ=98.86;MQ0=0;OQ=5189.16;QD=19.22;RankSumP=0.494218;SB=-2199.14;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.82G>A;refseq.codingCoordStr_2=c.250G>A;refseq.codonCoord_1=28;refseq.codonCoord_2=84;refseq.end_1=49729211;refseq.end_2=49729211;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=199;refseq.mrnaCoord_2=306;refseq.name2_1=LETMD1;refseq.name2_2=LETMD1;refseq.name_1=NM_001024668;refseq.name_2=NM_015416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V28I;refseq.proteinCoordStr_2=p.V84I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=49729211;refseq.start_2=49729211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr12 49968170 . T C 337.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.48;MQ0=0;OQ=12114.27;QD=42.06;RankSumP=1.00000;SB=-4034.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1585A>G;refseq.codonCoord=529;refseq.end=49968170;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1637;refseq.name=NM_016293;refseq.name2=BIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N529D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=49968170;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 49972098 . T C 414.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.67;MQ0=0;OQ=2193.48;QD=38.48;RankSumP=1.00000;SB=-1066.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1059A>G;refseq.codonCoord=353;refseq.end=49972098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_016293;refseq.name2=BIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E353E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=298;refseq.start=49972098;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr12 49977203 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.615C>G;refseq.codonCoord=205;refseq.end=49977203;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_016293;refseq.name2=BIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C205W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=13;refseq.start=49977203;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr12 50009871 . C G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=5;RankSumP=0.333333;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.623G>C;refseq.codonCoord=208;refseq.end=50009871;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_001971;refseq.name2=CELA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G208A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=14;refseq.start=50009871;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr12 50023829 . T C 243.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.71;MQ0=0;OQ=5335.15;QD=40.11;RankSumP=1.00000;SB=-2179.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.175A>G;refseq.codonCoord=59;refseq.end=50023829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_001971;refseq.name2=CELA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M59V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-26;refseq.start=50023829;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 50570767 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=4.33;MQ=97.56;MQ0=0;OQ=921.41;QD=11.38;RankSumP=0.384130;SB=-119.75;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.395A>G;refseq.codingCoordStr_2=c.770A>G;refseq.codonCoord_1=132;refseq.codonCoord_2=257;refseq.end_1=50570767;refseq.end_2=50570767;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=974;refseq.mrnaCoord_2=948;refseq.name2_1=ANKRD33;refseq.name2_2=ANKRD33;refseq.name_1=NM_001130015;refseq.name_2=NM_182608;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q132R;refseq.proteinCoordStr_2=p.Q257R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=133;refseq.spliceDist_2=133;refseq.start_1=50570767;refseq.start_2=50570767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr12 50571353 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.55;MQ0=0;OQ=1335.46;QD=18.29;RankSumP=0.306946;SB=-516.44;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.781G>A;refseq.codingCoordStr_2=c.1356G>A;refseq.codonCoord_1=261;refseq.codonCoord_2=452;refseq.end_1=50571353;refseq.end_2=50571353;refseq.frame_1=0;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1360;refseq.mrnaCoord_2=1534;refseq.name2_1=ANKRD33;refseq.name2_2=ANKRD33;refseq.name_1=NM_001130015;refseq.name_2=NM_182608;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V261I;refseq.proteinCoordStr_2=p.K452K;refseq.referenceAA_1=Val;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=117;refseq.spliceDist_2=-420;refseq.start_1=50571353;refseq.start_2=50571353;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Lys;refseq.variantCodon_1=ATA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr12 50595472 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.02091e-07;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.969A>C;refseq.codingCoordStr_2=c.969A>C;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=50595472;refseq.end_2=50595472;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1252;refseq.mrnaCoord_2=1115;refseq.name2_1=ACVRL1;refseq.name2_2=ACVRL1;refseq.name_1=NM_000020;refseq.name_2=NM_001077401;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K323N;refseq.proteinCoordStr_2=p.K323N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=50595472;refseq.start_2=50595472;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr12 50661111 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.672C>G;refseq.codingCoordStr_2=c.672C>G;refseq.codingCoordStr_3=c.672C>G;refseq.codonCoord_1=224;refseq.codonCoord_2=224;refseq.codonCoord_3=224;refseq.end_1=50661111;refseq.end_2=50661111;refseq.end_3=50661111;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=714;refseq.mrnaCoord_2=714;refseq.mrnaCoord_3=714;refseq.name2_1=ACVR1B;refseq.name2_2=ACVR1B;refseq.name2_3=ACVR1B;refseq.name_1=NM_004302;refseq.name_2=NM_020327;refseq.name_3=NM_020328;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G224G;refseq.proteinCoordStr_2=p.G224G;refseq.proteinCoordStr_3=p.G224G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=92;refseq.spliceDist_2=92;refseq.spliceDist_3=92;refseq.start_1=50661111;refseq.start_2=50661111;refseq.start_3=50661111;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr12 50661137 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.698T>G;refseq.codingCoordStr_2=c.698T>G;refseq.codingCoordStr_3=c.698T>G;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.end_1=50661137;refseq.end_2=50661137;refseq.end_3=50661137;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=740;refseq.mrnaCoord_2=740;refseq.mrnaCoord_3=740;refseq.name2_1=ACVR1B;refseq.name2_2=ACVR1B;refseq.name2_3=ACVR1B;refseq.name_1=NM_004302;refseq.name_2=NM_020327;refseq.name_3=NM_020328;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V233G;refseq.proteinCoordStr_2=p.V233G;refseq.proteinCoordStr_3=p.V233G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-114;refseq.spliceDist_2=-114;refseq.spliceDist_3=-114;refseq.start_1=50661137;refseq.start_2=50661137;refseq.start_3=50661137;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr12 50689265 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=42;Dels=0.00;HRun=1;HaplotypeScore=4.63;MQ=98.65;MQ0=0;OQ=500.82;QD=11.92;RankSumP=0.730593;SB=-209.83;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.271C>T;refseq.codonCoord=91;refseq.end=50689265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_181711;refseq.name2=GRASP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L91F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=25;refseq.start=50689265;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr12 50737551 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1510G>C;refseq.codingCoordStr_2=c.1510G>C;refseq.codonCoord_1=504;refseq.codonCoord_2=504;refseq.end_1=50737551;refseq.end_2=50737551;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1824;refseq.mrnaCoord_2=1674;refseq.name2_1=NR4A1;refseq.name2_2=NR4A1;refseq.name_1=NM_002135;refseq.name_2=NM_173157;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A504P;refseq.proteinCoordStr_2=p.A504P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=50737551;refseq.start_2=50737551;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr12 50851589 . G T 189.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.86;MQ0=0;OQ=3523.76;QD=32.33;RankSumP=1.00000;SB=-1249.18;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.1254C>A;refseq.codonCoord_2=418;refseq.end_1=50851698;refseq.end_2=50851589;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1352;refseq.name2_1=KRT80;refseq.name2_2=KRT80;refseq.name_1=NM_182507;refseq.name_2=NM_001081492;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P418P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=20;refseq.start_1=50851584;refseq.start_2=50851589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr12 50852314 . G A 122.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=498;Dels=0.00;HRun=0;HaplotypeScore=17.27;MQ=87.51;MQ0=2;OQ=8308.08;QD=16.68;RankSumP=0.000206144;SB=-3055.17;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1113C>T;refseq.codingCoordStr_2=c.1113C>T;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.end_1=50852314;refseq.end_2=50852314;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1211;refseq.name2_1=KRT80;refseq.name2_2=KRT80;refseq.name_1=NM_001081492;refseq.name_2=NM_182507;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N371N;refseq.proteinCoordStr_2=p.N371N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=50852314;refseq.start_2=50852314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=filterInsoap-gatk GT 1/0 chr12 50913482 . A G 103.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=88.88;MQ0=0;OQ=146.66;QD=14.67;RankSumP=1.00000;SB=-82.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.135A>G;refseq.codonCoord=45;refseq.end=50913482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=262;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-190;refseq.start=50913482;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/1 chr12 50917580 . A G 408.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=96.93;MQ0=0;OQ=6669.39;QD=37.47;RankSumP=1.00000;SB=-3051.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.557A>G;refseq.codonCoord=186;refseq.end=50917580;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H186R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=21;refseq.start=50917580;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 50921627 . G A 207.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=7.35;MQ=98.89;MQ0=0;OQ=8089.36;QD=21.40;RankSumP=0.00161294;SB=-3201.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.798G>A;refseq.codonCoord=266;refseq.end=50921627;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A266A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-61;refseq.start=50921627;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr12 50925569 . G C 318.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=97.67;MQ0=0;OQ=7797.98;QD=40.61;RankSumP=1.00000;SB=-2531.03;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1091G>C;refseq.codonCoord=364;refseq.end=50925569;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G364A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=107;refseq.start=50925569;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 50928679 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=2.92897e-07;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1278T>G;refseq.codonCoord=426;refseq.end=50928679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G426G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=38;refseq.start=50928679;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 50928784 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=79;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=96.75;MQ0=0;OQ=1050.52;QD=13.30;RankSumP=0.306072;SB=-115.96;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1383C>T;refseq.codonCoord=461;refseq.end=50928784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1510;refseq.name=NM_005556;refseq.name2=KRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S461S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=143;refseq.start=50928784;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr12 50967323 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=58.71;MQ0=85;OQ=2254.18;QD=9.51;RankSumP=0.290689;SB=-633.61;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1077G>A;refseq.codonCoord=359;refseq.end=50967323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1127;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.A359A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=51;refseq.start=50967323;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr12 50967347 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=10.58;MQ=66.54;MQ0=53;OQ=1824.11;QD=10.67;RankSumP=0.0158376;SB=-383.48;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1053C>T;refseq.codonCoord=351;refseq.end=50967347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.A351A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=27;refseq.start=50967347;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 50967683 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=12.22;MQ=74.68;MQ0=30;OQ=2269.27;QD=7.32;RankSumP=0.184741;SB=-718.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.990A>G;refseq.codonCoord=330;refseq.end=50967683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q330Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-37;refseq.start=50967683;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr12 50967704 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=72.70;MQ0=42;OQ=1174.18;QD=4.40;RankSumP=0.107062;SB=-333.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.969T>C;refseq.codonCoord=323;refseq.end=50967704;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.N323N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-58;refseq.start=50967704;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 50967727 . G A 251.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=67.13;MQ0=78;OQ=5363.57;QD=20.87;RankSumP=0.00163685;SB=-2406.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.946C>T;refseq.codonCoord=316;refseq.end=50967727;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=996;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R316C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=46;refseq.start=50967727;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=filterInsoap-gatk GT 1/0 chr12 50968192 . A C 83.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=48.57;MQ0=70;OQ=11146.39;QD=27.19;RankSumP=1.00000;SB=-3341.34;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.743T>G;refseq.codonCoord=248;refseq.end=50968192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.L248R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=50968192;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 50971169 . C T 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1092;Dels=0.00;HRun=0;HaplotypeScore=26.22;MQ=1.77;MQ0=1087;OQ=154.18;QD=0.14;RankSumP=0.662664;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.348G>A;refseq.codonCoord=116;refseq.end=50971169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.R116R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-22;refseq.start=50971169;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr12 50971363 . C G 13.29 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=9.49;MQ0=89;QD=0.15;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.154G>C;refseq.codonCoord=52;refseq.end=50971363;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_002281;refseq.name2=KRT81;refseq.positionType=CDS;refseq.proteinCoordStr=p.G52R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=204;refseq.start=50971363;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chr12 50982021 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=221;Dels=0.00;HRun=0;HaplotypeScore=14.25;MQ=96.02;MQ0=1;OQ=2406.10;QD=10.89;RankSumP=0.242073;SB=-489.00;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.54C>T;refseq.codonCoord=18;refseq.end=50982021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_002284;refseq.name2=KRT86;refseq.positionType=CDS;refseq.proteinCoordStr=p.C18C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=106;refseq.start=50982021;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr12 50982054 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=93;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=89.48;MQ0=7;OQ=1549.27;QD=16.66;RankSumP=2.28677e-05;SB=-10.00;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.87C>T;refseq.codonCoord=29;refseq.end=50982054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=139;refseq.name=NM_002284;refseq.name2=KRT86;refseq.positionType=CDS;refseq.proteinCoordStr=p.A29A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=139;refseq.start=50982054;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 0/1 chr12 50982315 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1163;Dels=0.00;HRun=0;HaplotypeScore=28.80;MQ=0.76;MQ0=1162;QD=0.01;RankSumP=0.537646;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.348G>A;refseq.codonCoord=116;refseq.end=50982315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_002284;refseq.name2=KRT86;refseq.positionType=CDS;refseq.proteinCoordStr=p.R116R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-22;refseq.start=50982315;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 1/0 chr12 50994687 . G A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=96.36;MQ0=0;OQ=178.66;QD=7.44;RankSumP=0.558676;SB=2.02;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1477C>T;refseq.codonCoord=493;refseq.end=50994687;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.H493Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=183;refseq.start=50994687;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr12 50994832 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.84;MQ=97.87;MQ0=0;OQ=666.95;QD=13.89;RankSumP=0.611608;SB=-240.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1332T>C;refseq.codonCoord=444;refseq.end=50994832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1395;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.D444D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=38;refseq.start=50994832;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr12 50996147 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=82.66;MQ0=12;OQ=761.06;QD=9.40;RankSumP=0.0653787;SB=-135.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1059T>C;refseq.codonCoord=353;refseq.end=50996147;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.A353A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=18;refseq.start=50996147;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 50996150 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=84.30;MQ0=10;OQ=870.44;QD=11.02;RankSumP=0.0472660;SB=-145.65;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1056A>G;refseq.codonCoord=352;refseq.end=50996150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.E352E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=15;refseq.start=50996150;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr12 50996576 . G A 196.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=84.07;MQ0=31;OQ=4379.90;QD=15.59;RankSumP=0.0543267;SB=-1771.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.984C>T;refseq.codonCoord=328;refseq.end=50996576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.N328N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-58;refseq.start=50996576;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr12 50996982 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=686;Dels=0.00;HRun=0;HaplotypeScore=16.90;MQ=84.01;MQ0=20;OQ=11962.23;QD=17.44;RankSumP=0.0816838;SB=-4760.46;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.843C>T;refseq.codonCoord=281;refseq.end=50996982;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.A281A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-73;refseq.start=50996982;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 50996988 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=660;Dels=0.00;HRun=1;HaplotypeScore=22.40;MQ=83.76;MQ0=22;OQ=13452.34;QD=20.38;RankSumP=0.361280;SB=-5175.30;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.837C>G;refseq.codonCoord=279;refseq.end=50996988;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.I279M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-79;refseq.start=50996988;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr12 50997816 . G A 99.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=91.35;MQ0=2;OQ=759.36;QD=14.60;RankSumP=0.553838;SB=-307.23;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.666C>T;refseq.codonCoord=222;refseq.end=50997816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.C222C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=12;refseq.start=50997816;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr12 50999355 . G A 295.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=14.05;MQ=96.05;MQ0=0;OQ=5468.21;QD=17.20;RankSumP=0.273834;SB=-1796.10;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.445C>T;refseq.codonCoord=149;refseq.end=50999355;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_002282;refseq.name2=KRT83;refseq.positionType=CDS;refseq.proteinCoordStr=p.R149C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=61;refseq.start=50999355;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 51040929 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=6.52586e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1499G>T;refseq.codonCoord=500;refseq.end=51040929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1619;refseq.name=NM_002283;refseq.name2=KRT85;refseq.positionType=CDS;refseq.proteinCoordStr=p.S500I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=169;refseq.start=51040929;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr12 51042467 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1133T>C;refseq.codonCoord=378;refseq.end=51042467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_002283;refseq.name2=KRT85;refseq.positionType=CDS;refseq.proteinCoordStr=p.L378P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=56;refseq.start=51042467;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 51045220 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.422T>G;refseq.codonCoord=141;refseq.end=51045220;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_002283;refseq.name2=KRT85;refseq.positionType=CDS;refseq.proteinCoordStr=p.V141G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=51045220;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 51060502 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=17.13;MQ=98.33;MQ0=0;OQ=2818.79;QD=12.81;RankSumP=0.209484;SB=-1158.80;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1336T>C;refseq.codonCoord=446;refseq.end=51060502;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1384;refseq.name=NM_033045;refseq.name2=KRT84;refseq.positionType=CDS;refseq.proteinCoordStr=p.C446R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-89;refseq.start=51060502;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr12 51065627 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=150;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.86;MQ0=0;OQ=2372.20;QD=15.81;RankSumP=0.142404;SB=-1134.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.10C>T;refseq.codonCoord=4;refseq.end=51065627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=58;refseq.name=NM_033045;refseq.name2=KRT84;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=58;refseq.start=51065627;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 51075046 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1522T>C;refseq.codonCoord=508;refseq.end=51075046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1637;refseq.name=NM_033033;refseq.name2=KRT82;refseq.positionType=CDS;refseq.proteinCoordStr=p.S508P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=201;refseq.start=51075046;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 51075195 . G A 205.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.35;MQ0=0;OQ=2510.87;QD=14.03;RankSumP=0.263798;SB=-1219.98;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1373C>T;refseq.codonCoord=458;refseq.end=51075195;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1488;refseq.name=NM_033033;refseq.name2=KRT82;refseq.positionType=CDS;refseq.proteinCoordStr=p.T458M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=52;refseq.start=51075195;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr12 51104771 . T G 67.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.06;MQ0=0;OQ=2390.44;QD=27.48;RankSumP=1.00000;SB=-497.85;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1453A>C;refseq.codonCoord=485;refseq.end=51104771;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1475;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.S485R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=36;refseq.start=51104771;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 51108403 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1286G>C;refseq.codonCoord=429;refseq.end=51108403;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1308;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.R429P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-97;refseq.start=51108403;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr12 51108525 . A G 342.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=97.93;MQ0=0;OQ=2403.13;QD=35.34;RankSumP=1.00000;SB=-731.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1164T>C;refseq.codonCoord=388;refseq.end=51108525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1186;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.C388C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=51108525;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr12 51110619 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=936;Dels=0.00;HRun=0;HaplotypeScore=15.48;MQ=98.83;MQ0=0;OQ=19676.68;QD=21.02;RankSumP=0.445077;SB=-7619.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1008C>T;refseq.codonCoord=336;refseq.end=51110619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.A336A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-28;refseq.start=51110619;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 51111630 . G A 128.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.90;MQ0=0;OQ=19075.55;QD=43.16;RankSumP=1.00000;SB=-9093.86;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.834C>T;refseq.codonCoord=278;refseq.end=51111630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.P278P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-37;refseq.start=51111630;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr12 51113875 . C T 227.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=11.96;MQ=98.70;MQ0=0;OQ=9362.14;QD=18.72;RankSumP=0.000330713;SB=-3931.11;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.481G>A;refseq.codonCoord=161;refseq.end=51113875;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.A161T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-18;refseq.start=51113875;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr12 51114053 . C T 124.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=7.73;MQ=97.45;MQ0=0;OQ=1390.80;QD=13.00;RankSumP=0.218248;SB=-408.69;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.303G>A;refseq.codonCoord=101;refseq.end=51114053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.G101G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-196;refseq.start=51114053;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr12 51114085 . T C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=125;Dels=0.00;HRun=2;HaplotypeScore=28.70;MQ=97.39;MQ0=0;OQ=3520.17;QD=28.16;RankSumP=1.00000;SB=-656.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.271A>G;refseq.codonCoord=91;refseq.end=51114085;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_004693;refseq.name2=KRT75;refseq.positionType=CDS;refseq.proteinCoordStr=p.R91G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-228;refseq.start=51114085;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr12 51128032 . G A 328.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=11.21;MQ=84.14;MQ0=20;OQ=6160.45;QD=17.26;RankSumP=0.352874;SB=-1692.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1221C>T;refseq.codonCoord=407;refseq.end=51128032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A407A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=18;refseq.start=51128032;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 51129003 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.210694;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1093A>G;refseq.codonCoord=365;refseq.end=51129003;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I365V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=16;refseq.start=51129003;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr12 51129848 . A G 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.464209;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.873T>C;refseq.codonCoord=291;refseq.end=51129848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L291L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-40;refseq.start=51129848;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr12 51130532 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1209;Dels=0.00;HRun=0;HaplotypeScore=36.02;MQ=62.77;MQ0=273;OQ=12402.77;QD=10.26;RankSumP=0.000377047;SB=-4595.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.680A>G;refseq.codonCoord=227;refseq.end=51130532;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N227S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-76;refseq.start=51130532;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr12 51131702 rs28538343 C T 1.84 PASS AC=1;AF=0.50;AN=2;DB;DP=415;Dels=0.00;HRun=1;HaplotypeScore=11.11;MQ=27.07;MQ0=144;OQ=1379.62;QD=3.32;SB=-485.74;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.428G>A;refseq.codonCoord=143;refseq.end=51131702;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S143N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-113;refseq.start=51131702;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=gatk GT:AD:DP:GL:GQ 0/1:313,102:238:-212.91,-71.66,-806.09:99 chr12 51131772 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=30;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.358G>C;refseq.codonCoord=120;refseq.end=51131772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=406;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G120R;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-183;refseq.start=51131772;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/1 chr12 51132068 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=9.82;MQ=36.68;MQ0=161;OQ=896.00;QD=4.39;RankSumP=1.00000;SB=67.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.62A>G;refseq.codonCoord=21;refseq.end=51132068;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=110;refseq.name=NM_005555;refseq.name2=KRT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N21S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=110;refseq.start=51132068;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr12 51149305 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=26.42;MQ=63.13;MQ0=18;OQ=496.42;QD=4.82;RankSumP=0.143211;SB=2.03;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1503C>T;refseq.codonCoord=501;refseq.end=51149305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1551;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S501S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=44;refseq.start=51149305;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr12 51149480 . C T 321.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=11.05;MQ=42.96;MQ0=46;OQ=4617.19;QD=16.73;RankSumP=0.349941;SB=-1898.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1441G>A;refseq.codonCoord=481;refseq.end=51149480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V481I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=17;refseq.start=51149480;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr12 51149831 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=2;HaplotypeScore=5.97;MQ=43.98;MQ0=208;OQ=2699.73;QD=6.96;RankSumP=0.402505;SB=-1332.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1314G>A;refseq.codonCoord=438;refseq.end=51149831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.K438K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=111;refseq.start=51149831;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr12 51149888 . T G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=7.67;MQ=75.89;MQ0=90;OQ=9131.84;QD=26.39;RankSumP=1.00000;SB=-3311.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1257A>C;refseq.codonCoord=419;refseq.end=51149888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A419A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=54;refseq.start=51149888;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 51152185 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=447;Dels=0.00;HRun=4;HaplotypeScore=16.55;MQ=46.53;MQ0=139;OQ=391.74;QD=0.88;RankSumP=0.0512550;SB=-161.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.687C>G;refseq.codonCoord=229;refseq.end=51152185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V229V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-69;refseq.start=51152185;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 0/1 chr12 51152192 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.218714;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.680G>A;refseq.codonCoord=227;refseq.end=51152192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S227N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-76;refseq.start=51152192;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr12 51153326 . C T 14.54 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=354;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=9.96;MQ0=340;QD=0.04;SB=-10.00;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.463G>A;refseq.codonCoord=155;refseq.end=51153326;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A155T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-78;refseq.start=51153326;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:309,42:12:-8.34,-3.61,-37.26:47.22 chr12 51153361 . C T 49.25 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=11.68;MQ0=75;QD=0.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.428G>A;refseq.codonCoord=143;refseq.end=51153361;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S143N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-113;refseq.start=51153361;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/1 chr12 51153372 . G A 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.417C>T;refseq.codonCoord=139;refseq.end=51153372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T139T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-124;refseq.start=51153372;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/1 chr12 51153527 rs411107 C T 49.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=23.11;MQ=9.68;MQ0=176;QD=0.28;SB=-10.00;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.262G>A;refseq.codonCoord=88;refseq.end=51153527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G88R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-279;refseq.start=51153527;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:150,24:2:-8.31,-0.60,-0.00:6.02 chr12 51153591 rs28542082 G T 46.81 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=13.30;MQ=10.32;MQ0=187;QD=0.25;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.198C>A;refseq.codonCoord=66;refseq.end=51153591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=246;refseq.start=51153591;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:168,12:2:-8.09,-0.60,-0.00:6.02 chr12 51153606 rs61732948 C T 167.19 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=13.28;MQ=17.20;MQ0=181;QD=0.87;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=51153606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L61L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=231;refseq.start=51153606;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:158,32:5:-20.28,-1.51,-0.00:15.05 chr12 51153608 rs61740355 G A 216.18 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=12.45;MQ=17.48;MQ0=175;QD=1.15;SB=-42.55;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.181C>T;refseq.codonCoord=61;refseq.end=51153608;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L61L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=229;refseq.start=51153608;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:152,36:6:-25.19,-1.81,-0.00:18.06 chr12 51153609 rs61740354 A G 206.76 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=11.02;MQ=17.62;MQ0=172;QD=1.12;SB=-36.67;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.180T>C;refseq.codonCoord=60;refseq.end=51153609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S60S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=228;refseq.start=51153609;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:140,36:6:-24.25,-1.81,-0.00:18.05 chr12 51153642 . A G 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.728571;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.147T>C;refseq.codonCoord=49;refseq.end=51153642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_173086;refseq.name2=KRT6C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G49G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=195;refseq.start=51153642;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr12 51171002 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=33.84;MQ0=189;OQ=1052.80;QD=3.90;RankSumP=0.0972283;SB=-320.28;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.819T>C;refseq.codonCoord=273;refseq.end=51171002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1028;refseq.name=NM_005554;refseq.name2=KRT6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D273D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=51171002;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr12 51172745 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=735;Dels=0.00;HRun=0;HaplotypeScore=32.46;MQ=60.79;MQ0=238;OQ=2591.60;QD=3.53;RankSumP=0.0934747;SB=-305.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.495A>G;refseq.codonCoord=165;refseq.end=51172745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_005554;refseq.name2=KRT6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E165E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-46;refseq.start=51172745;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr12 51172757 . A G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=626;Dels=0.00;HRun=1;HaplotypeScore=15.45;MQ=61.96;MQ0=175;OQ=15683.87;QD=25.05;RankSumP=1.00000;SB=-4545.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.483T>C;refseq.codonCoord=161;refseq.end=51172757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_005554;refseq.name2=KRT6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A161A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-58;refseq.start=51172757;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr12 51173178 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=10.68;MQ=34.86;MQ0=92;OQ=816.63;QD=4.46;RankSumP=0.103926;SB=-365.33;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.62A>G;refseq.codonCoord=21;refseq.end=51173178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_005554;refseq.name2=KRT6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N21S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=271;refseq.start=51173178;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr12 51224631 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=260;Dels=0.00;HRun=3;HaplotypeScore=21.39;MQ=97.89;MQ0=0;OQ=3172.11;QD=12.20;RankSumP=0.443802;SB=-880.18;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1524A>G;refseq.codonCoord=508;refseq.end=51224631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_033448;refseq.name2=KRT71;refseq.positionType=CDS;refseq.proteinCoordStr=p.L508L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=164;refseq.start=51224631;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr12 51224764 . A C 39.22 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=93.06;MQ0=0;QD=2.80;RankSumP=0.0738348;SB=-28.98;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1391T>G;refseq.codonCoord=464;refseq.end=51224764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1461;refseq.name=NM_033448;refseq.name2=KRT71;refseq.positionType=CDS;refseq.proteinCoordStr=p.V464G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=31;refseq.start=51224764;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr12 51251440 . T G 317.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=11.48;MQ=98.91;MQ0=0;OQ=8428.63;QD=21.56;RankSumP=0.358665;SB=-2797.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.813A>C;refseq.codonCoord=271;refseq.end=51251440;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=861;refseq.name=NM_175053;refseq.name2=KRT74;refseq.positionType=CDS;refseq.proteinCoordStr=p.E271D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-31;refseq.start=51251440;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr12 51252028 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=806;Dels=0.00;HRun=1;HaplotypeScore=20.66;MQ=98.72;MQ0=0;OQ=15332.34;QD=19.02;RankSumP=0.284371;SB=-6447.75;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.714G>A;refseq.codonCoord=238;refseq.end=51252028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_175053;refseq.name2=KRT74;refseq.positionType=CDS;refseq.proteinCoordStr=p.T238T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=28;refseq.start=51252028;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr12 51252049 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=730;Dels=0.00;HRun=1;HaplotypeScore=14.63;MQ=98.75;MQ0=0;OQ=13258.23;QD=18.16;RankSumP=0.349519;SB=-4358.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.693A>G;refseq.codonCoord=231;refseq.end=51252049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_175053;refseq.name2=KRT74;refseq.positionType=CDS;refseq.proteinCoordStr=p.E231E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=51252049;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr12 51253384 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=464;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.66;MQ0=0;OQ=9855.09;QD=21.24;RankSumP=0.246807;SB=-3211.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.445G>A;refseq.codonCoord=149;refseq.end=51253384;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_175053;refseq.name2=KRT74;refseq.positionType=CDS;refseq.proteinCoordStr=p.D149N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-27;refseq.start=51253384;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 51253703 . G A 145.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=99.00;MQ0=0;OQ=1970.32;QD=12.96;RankSumP=0.305743;SB=-520.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.126C>T;refseq.codonCoord=42;refseq.end=51253703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_175053;refseq.name2=KRT74;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=174;refseq.start=51253703;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr12 51267894 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.21;MQ0=0;OQ=1002.36;QD=15.66;RankSumP=0.640522;SB=-101.11;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1098T>A;refseq.codingCoordStr_2=c.972T>A;refseq.codingCoordStr_3=c.1098T>A;refseq.codonCoord_1=366;refseq.codonCoord_2=324;refseq.codonCoord_3=366;refseq.end_1=51267894;refseq.end_2=51267894;refseq.end_3=51267894;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1184;refseq.mrnaCoord_2=1058;refseq.mrnaCoord_3=1184;refseq.name2_1=KRT72;refseq.name2_2=KRT72;refseq.name2_3=KRT72;refseq.name_1=NM_001146225;refseq.name_2=NM_001146226;refseq.name_3=NM_080747;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D366E;refseq.proteinCoordStr_2=p.D324E;refseq.proteinCoordStr_3=p.D366E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=51267894;refseq.start_2=51267894;refseq.start_3=51267894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 0/1 chr12 51328330 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1016A>C;refseq.codonCoord=339;refseq.end=51328330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1049;refseq.name=NM_000423;refseq.name2=KRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N339T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=59;refseq.start=51328330;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr12 51330601 . G C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.500574;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.589C>G;refseq.codonCoord=197;refseq.end=51330601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_000423;refseq.name2=KRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R197G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=51330601;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 51330603 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=51;Dels=0.00;HRun=2;HaplotypeScore=9.33;MQ=96.02;MQ0=0;QD=0.35;RankSumP=0.500000;SB=26.11;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.587T>G;refseq.codonCoord=196;refseq.end=51330603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_000423;refseq.name2=KRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V196G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=51330603;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr12 51331893 . T C 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=90.87;MQ0=0;OQ=72.31;QD=4.52;RankSumP=0.632168;SB=-54.26;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.301A>G;refseq.codonCoord=101;refseq.end=51331893;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_000423;refseq.name2=KRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S101G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-285;refseq.start=51331893;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr12 51332044 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=8.37;MQ=98.49;MQ0=0;OQ=2244.12;QD=11.51;RankSumP=0.385147;SB=-728.71;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.150C>T;refseq.codonCoord=50;refseq.end=51332044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_000423;refseq.name2=KRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G50G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=183;refseq.start=51332044;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr12 51355281 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=13.78;MQ=98.34;MQ0=0;OQ=2262.64;QD=16.52;RankSumP=0.0511529;SB=-548.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1898A>G;refseq.codonCoord=633;refseq.end=51355281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1957;refseq.name=NM_006121;refseq.name2=KRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K633R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=388;refseq.start=51355281;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr12 51355502 rs11170232 G A 12.11 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=93.58;MQ0=0;QD=2.42;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1677C>T;refseq.codonCoord=559;refseq.end=51355502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_006121;refseq.name2=KRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y559Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=167;refseq.start=51355502;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3,2:1:-4.47,-0.30,-0.00:1.76 chr12 51355659 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1520C>A;refseq.codonCoord=507;refseq.end=51355659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1579;refseq.name=NM_006121;refseq.name2=KRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T507K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=51355659;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr12 51356388 . T G 315.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.16;MQ0=0;OQ=9516.13;QD=38.06;RankSumP=1.00000;SB=-3629.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1413A>C;refseq.codonCoord=471;refseq.end=51356388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_006121;refseq.name2=KRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T471T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-63;refseq.start=51356388;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 51356412 . G A 233.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.31;MQ0=0;OQ=4760.50;QD=21.25;RankSumP=0.0334213;SB=-1923.53;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1389C>T;refseq.codonCoord=463;refseq.end=51356412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_006121;refseq.name2=KRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R463R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-87;refseq.start=51356412;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr12 51371356 . T C 12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=71.17;QD=23.72;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1597A>G;refseq.codonCoord=533;refseq.end=51371356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1626;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.R533G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=135;refseq.start=51371356;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=filterInsoap-gatk GT 1/1 chr12 51372912 . G A 253.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=98.60;MQ0=0;OQ=2838.10;QD=14.48;RankSumP=0.413193;SB=-1345.78;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1100C>T;refseq.codonCoord=367;refseq.end=51372912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.T367M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=20;refseq.start=51372912;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr12 51374751 . C T 194.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.70;MQ0=0;OQ=4915.51;QD=19.74;RankSumP=0.232057;SB=-1411.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1006G>A;refseq.codonCoord=336;refseq.end=51374751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.D336N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-75;refseq.start=51374751;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 51376457 . C T 134.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=4.43;MQ=98.82;MQ0=0;OQ=1887.36;QD=13.02;RankSumP=0.296230;SB=-764.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.783G>A;refseq.codonCoord=261;refseq.end=51376457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=812;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.R261R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=25;refseq.start=51376457;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr12 51377833 . C A 218.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=98.87;MQ0=0;OQ=1473.49;QD=15.35;RankSumP=0.339557;SB=-455.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.658G>T;refseq.codonCoord=220;refseq.end=51377833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.G220C;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-101;refseq.start=51377833;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr12 51383180 . G A 341.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1287.94;QD=36.80;RankSumP=1.00000;SB=-606.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=51383180;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_175078;refseq.name2=KRT77;refseq.positionType=CDS;refseq.proteinCoordStr=p.T102T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-238;refseq.start=51383180;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr12 51449040 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1641T>C;refseq.codonCoord=547;refseq.end=51449040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1695;refseq.name=NM_015848;refseq.name2=KRT76;refseq.positionType=CDS;refseq.proteinCoordStr=p.S547S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=122;refseq.start=51449040;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/1 chr12 51451115 . G A 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=61.87;MQ=91.90;MQ0=2;OQ=13623.59;QD=32.21;RankSumP=1.00000;SB=-5557.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1419C>T;refseq.codonCoord=473;refseq.end=51451115;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1473;refseq.name=NM_015848;refseq.name2=KRT76;refseq.positionType=CDS;refseq.proteinCoordStr=p.N473N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-66;refseq.start=51451115;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap-filterIngatk GT 1/1 chr12 51451146 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1388G>C;refseq.codonCoord=463;refseq.end=51451146;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1442;refseq.name=NM_015848;refseq.name2=KRT76;refseq.positionType=CDS;refseq.proteinCoordStr=p.R463P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-97;refseq.start=51451146;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr12 51452207 . C T 293.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=98.82;MQ0=0;OQ=10984.77;QD=40.39;RankSumP=1.00000;SB=-4678.73;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1075G>A;refseq.codonCoord=359;refseq.end=51452207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_015848;refseq.name2=KRT76;refseq.positionType=CDS;refseq.proteinCoordStr=p.A359T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-63;refseq.start=51452207;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 51457268 . G A 142.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=95.89;MQ0=0;OQ=2395.75;QD=14.35;RankSumP=0.193772;SB=-945.41;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.75C>T;refseq.codonCoord=25;refseq.end=51457268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=129;refseq.name=NM_015848;refseq.name2=KRT76;refseq.positionType=CDS;refseq.proteinCoordStr=p.S25S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=129;refseq.start=51457268;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr12 51488450 . C G 114.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=1;HaplotypeScore=10.59;MQ=98.94;MQ0=0;OQ=8873.02;QD=20.21;RankSumP=0.468015;SB=-2866.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1242G>C;refseq.codonCoord=414;refseq.end=51488450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S414S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=21;refseq.start=51488450;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr12 51492024 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=417.52;QD=15.46;RankSumP=0.300263;SB=-113.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.689A>G;refseq.codonCoord=230;refseq.end=51492024;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q230R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=51492024;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr12 51493846 . T G 50.95 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=89.00;MQ0=0;QD=0.96;SB=17.08;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.486A>C;refseq.codonCoord=162;refseq.end=51493846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G162G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-199;refseq.start=51493846;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:20,33:25:-15.91,-7.53,-76.40:83.78 chr12 51493849 . A G 522.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=90.97;MQ0=0;QD=7.37;RankSumP=0.525142;SB=17.08;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.483T>C;refseq.codonCoord=161;refseq.end=51493849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G161G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-202;refseq.start=51493849;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr12 51493850 . C G 878.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=90.89;MQ0=0;QD=12.03;RankSumP=0.198446;SB=14.08;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.482G>C;refseq.codonCoord=161;refseq.end=51493850;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G161A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-203;refseq.start=51493850;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 1/0 chr12 51493895 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=18.90;MQ=95.71;MQ0=0;OQ=4601.41;QD=17.11;RankSumP=0.0558007;SB=-444.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.437C>T;refseq.codonCoord=146;refseq.end=51493895;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_002272;refseq.name2=KRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A146V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-248;refseq.start=51493895;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr12 51503968 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.96;MQ0=0;OQ=1658.14;QD=12.28;RankSumP=0.338903;SB=-767.18;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1116G>T;refseq.codonCoord=372;refseq.end=51503968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_175834;refseq.name2=KRT79;refseq.positionType=CDS;refseq.proteinCoordStr=p.L372L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-31;refseq.start=51503968;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr12 51514070 . A G 155.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=97.72;MQ0=0;OQ=831.46;QD=14.09;RankSumP=0.365778;SB=-392.01;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.242T>C;refseq.codonCoord=81;refseq.end=51514070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_175834;refseq.name2=KRT79;refseq.positionType=CDS;refseq.proteinCoordStr=p.L81S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-236;refseq.start=51514070;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr12 51528707 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=98.70;MQ0=0;OQ=1166.82;QD=15.98;RankSumP=0.287299;SB=-329.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.275T>C;refseq.codonCoord=92;refseq.end=51528707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_173352;refseq.name2=KRT78;refseq.positionType=CDS;refseq.proteinCoordStr=p.L92P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-110;refseq.start=51528707;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr12 51580058 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.749A>C;refseq.codonCoord=250;refseq.end=51580058;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_002273;refseq.name2=KRT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N250T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=59;refseq.start=51580058;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr12 51717565 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=231;Dels=0.00;HRun=3;HaplotypeScore=16.10;MQ=56.53;MQ0=141;OQ=1127.00;QD=4.88;RankSumP=0.415756;SB=-269.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1412T>A;refseq.codonCoord=471;refseq.end=51717565;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_001417;refseq.name2=EIF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L471Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=106;refseq.start=51717565;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 1/0 chr12 51719356 . C A 380.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=89.91;MQ0=9;OQ=5352.20;QD=36.91;RankSumP=1.00000;SB=-2241.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1644C>A;refseq.codonCoord=548;refseq.end=51719356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_001417;refseq.name2=EIF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G548G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-39;refseq.start=51719356;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr12 51719753 . C T 349.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=4942.09;QD=43.74;RankSumP=1.00000;SB=-1036.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1755C>T;refseq.codonCoord=585;refseq.end=51719753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1961;refseq.name=NM_001417;refseq.name2=EIF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S585S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=51719753;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr12 51729223 . G C 282.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.54;MQ=98.53;MQ0=0;OQ=1424.98;QD=38.51;RankSumP=1.00000;SB=-537.04;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.29G>C;refseq.codonCoord_2=10;refseq.end_1=51731895;refseq.end_2=51729223;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=224;refseq.name2_1=TENC1;refseq.name2_2=TENC1;refseq.name_1=NM_198316;refseq.name_2=NM_015319;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R10T;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=-77;refseq.start_1=51727125;refseq.start_2=51729223;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr12 51738397 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=266;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=98.30;MQ0=0;OQ=3228.29;QD=12.14;RankSumP=0.457904;SB=-1265.06;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1156A>G;refseq.codingCoordStr_2=c.1126A>G;refseq.codingCoordStr_3=c.754A>G;refseq.codonCoord_1=386;refseq.codonCoord_2=376;refseq.codonCoord_3=252;refseq.end_1=51738397;refseq.end_2=51738397;refseq.end_3=51738397;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1351;refseq.mrnaCoord_2=1261;refseq.mrnaCoord_3=1089;refseq.name2_1=TENC1;refseq.name2_2=TENC1;refseq.name2_3=TENC1;refseq.name_1=NM_015319;refseq.name_2=NM_170754;refseq.name_3=NM_198316;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T386A;refseq.proteinCoordStr_2=p.T376A;refseq.proteinCoordStr_3=p.T252A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=51738397;refseq.start_2=51738397;refseq.start_3=51738397;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr12 51738792 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=367;Dels=0.00;HRun=1;HaplotypeScore=22.20;MQ=98.29;MQ0=0;OQ=6157.78;QD=16.78;RankSumP=0.109957;SB=-1783.13;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1349T>C;refseq.codingCoordStr_2=c.1319T>C;refseq.codingCoordStr_3=c.947T>C;refseq.codonCoord_1=450;refseq.codonCoord_2=440;refseq.codonCoord_3=316;refseq.end_1=51738792;refseq.end_2=51738792;refseq.end_3=51738792;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1544;refseq.mrnaCoord_2=1454;refseq.mrnaCoord_3=1282;refseq.name2_1=TENC1;refseq.name2_2=TENC1;refseq.name2_3=TENC1;refseq.name_1=NM_015319;refseq.name_2=NM_170754;refseq.name_3=NM_198316;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V450A;refseq.proteinCoordStr_2=p.V440A;refseq.proteinCoordStr_3=p.V316A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=51738792;refseq.start_2=51738792;refseq.start_3=51738792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr12 51740460 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.35;MQ0=0;OQ=1950.08;QD=17.11;RankSumP=0.146354;SB=-689.74;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2652G>A;refseq.codingCoordStr_2=c.2622G>A;refseq.codingCoordStr_3=c.2250G>A;refseq.codonCoord_1=884;refseq.codonCoord_2=874;refseq.codonCoord_3=750;refseq.end_1=51740460;refseq.end_2=51740460;refseq.end_3=51740460;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2847;refseq.mrnaCoord_2=2757;refseq.mrnaCoord_3=2585;refseq.name2_1=TENC1;refseq.name2_2=TENC1;refseq.name2_3=TENC1;refseq.name_1=NM_015319;refseq.name_2=NM_170754;refseq.name_3=NM_198316;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S884S;refseq.proteinCoordStr_2=p.S874S;refseq.proteinCoordStr_3=p.S750S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.start_1=51740460;refseq.start_2=51740460;refseq.start_3=51740460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/0 chr12 51781213 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr12;refseq.codingCoordStr=c.600+2;refseq.end=51781213;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_002178;refseq.name2=IGFBP6;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=51781213;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr12 51803819 . G A 181.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=13.44;MQ=98.68;MQ0=0;OQ=8281.63;QD=19.77;RankSumP=0.264023;SB=-3532.79;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1413G>A;refseq.codonCoord=471;refseq.end=51803819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1501;refseq.name=NM_003578;refseq.name2=SOAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P471P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=41;refseq.start=51803819;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 51853472 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.131T>G;refseq.codonCoord=44;refseq.end=51853472;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=415;refseq.name=NM_015989;refseq.name2=CSAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.V44G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=56;refseq.start=51853472;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 51907561 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=39;Dels=0.00;HRun=2;HaplotypeScore=3.95;MQ=97.28;MQ0=0;QD=0.34;RankSumP=0.500023;SB=35.13;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.36T>G;refseq.codonCoord=12;refseq.end=51907561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_000966;refseq.name2=RARG;refseq.positionType=CDS;refseq.proteinCoordStr=p.G12G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-149;refseq.start=51907561;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr12 51933444 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.11879e-06;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.879T>G;refseq.codingCoordStr_2=c.558T>G;refseq.codonCoord_1=293;refseq.codonCoord_2=186;refseq.end_1=51933444;refseq.end_2=51933444;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1026;refseq.mrnaCoord_2=753;refseq.name2_1=MFSD5;refseq.name2_2=MFSD5;refseq.name_1=NM_001170790;refseq.name_2=NM_032889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G293G;refseq.proteinCoordStr_2=p.G186G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=576;refseq.spliceDist_2=576;refseq.start_1=51933444;refseq.start_2=51933444;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 51933446 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.881T>G;refseq.codingCoordStr_2=c.560T>G;refseq.codonCoord_1=294;refseq.codonCoord_2=187;refseq.end_1=51933446;refseq.end_2=51933446;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1028;refseq.mrnaCoord_2=755;refseq.name2_1=MFSD5;refseq.name2_2=MFSD5;refseq.name_1=NM_001170790;refseq.name_2=NM_032889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V294G;refseq.proteinCoordStr_2=p.V187G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=578;refseq.spliceDist_2=578;refseq.start_1=51933446;refseq.start_2=51933446;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr12 51933640 . T C 291.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=98.85;MQ0=0;OQ=6204.68;QD=15.83;RankSumP=0.0452000;SB=-1765.13;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1075T>C;refseq.codingCoordStr_2=c.754T>C;refseq.codonCoord_1=359;refseq.codonCoord_2=252;refseq.end_1=51933640;refseq.end_2=51933640;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1222;refseq.mrnaCoord_2=949;refseq.name2_1=MFSD5;refseq.name2_2=MFSD5;refseq.name_1=NM_001170790;refseq.name_2=NM_032889;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L359L;refseq.proteinCoordStr_2=p.L252L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=772;refseq.spliceDist_2=772;refseq.start_1=51933640;refseq.start_2=51933640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr12 51948891 . C A 175.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=97.93;MQ0=0;OQ=1330.18;QD=14.00;RankSumP=0.372879;SB=-414.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.74C>A;refseq.codonCoord=25;refseq.end=51948891;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A25D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=51948891;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr12 51954956 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.09681e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1595C>G;refseq.codonCoord=532;refseq.end=51954956;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1686;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A532G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=89;refseq.start=51954956;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr12 51954957 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=7.01588e-05;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1596A>G;refseq.codonCoord=532;refseq.end=51954957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1687;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A532A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=90;refseq.start=51954957;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr12 51956812 . C A 204.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.12;MQ0=0;OQ=1187.64;QD=14.66;RankSumP=0.168115;SB=-547.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1842C>A;refseq.codonCoord=614;refseq.end=51956812;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1933;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S614R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-99;refseq.start=51956812;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr12 51959864 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2446T>C;refseq.codonCoord=816;refseq.end=51959864;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2537;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S816P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-54;refseq.start=51959864;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 51963460 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2948T>G;refseq.codonCoord=983;refseq.end=51963460;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3039;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V983G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=28;refseq.start=51963460;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 51966296 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3509T>G;refseq.codonCoord=1170;refseq.end=51966296;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3600;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1170G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=322;refseq.start=51966296;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 51968150 . A T 340.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.67;MQ0=0;OQ=1487.24;QD=35.41;RankSumP=1.00000;SB=-549.46;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4304A>T;refseq.codonCoord=1435;refseq.end=51968150;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4395;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1435M;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=128;refseq.start=51968150;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr12 51968724 . G A 70.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=10.77;MQ=98.48;MQ0=0;OQ=7179.39;QD=31.91;RankSumP=1.00000;SB=-2697.07;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4682G>A;refseq.codonCoord=1561;refseq.end=51968724;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4773;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1561Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-27;refseq.start=51968724;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr12 51969253 . C T 203.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=13.99;MQ=98.68;MQ0=0;OQ=19253.55;QD=38.74;RankSumP=1.00000;SB=-6352.83;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4821C>T;refseq.codonCoord=1607;refseq.end=51969253;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4912;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1607C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-102;refseq.start=51969253;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr12 51972970 . G A 255.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.75;MQ0=0;OQ=6879.30;QD=37.19;RankSumP=1.00000;SB=-3043.27;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.6110G>A;refseq.codonCoord=2037;refseq.end=51972970;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6201;refseq.name=NM_012291;refseq.name2=ESPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2037H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-52;refseq.start=51972970;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr12 51979799 . A G 87.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.31;MQ0=0;OQ=1399.69;QD=29.16;RankSumP=1.00000;SB=-118.04;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.11A>G;refseq.codonCoord=4;refseq.end=51979799;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=63;refseq.name=NM_021640;refseq.name2=C12orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=63;refseq.start=51979799;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr12 51979800 . A C 154.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.34;MQ0=0;OQ=1653.28;QD=33.07;RankSumP=1.00000;SB=-151.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.12A>C;refseq.codonCoord=4;refseq.end=51979800;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=64;refseq.name=NM_021640;refseq.name2=C12orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=64;refseq.start=51979800;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr12 51987115 . C T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=16.56;MQ=98.25;MQ0=0;OQ=7023.94;QD=35.65;RankSumP=1.00000;SB=-901.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1046C>T;refseq.codonCoord=349;refseq.end=51987115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_021640;refseq.name2=C12orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=99;refseq.start=51987115;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr12 51987127 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=18.22;MQ=98.08;MQ0=0;OQ=4448.62;QD=29.86;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1058A>G;refseq.codonCoord=353;refseq.end=51987127;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_021640;refseq.name2=C12orf10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H353R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-106;refseq.start=51987127;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 51988858 . G C 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=1;RankSumP=0.00143132;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.906C>G;refseq.codingCoordStr_2=c.1005C>G;refseq.codonCoord_1=302;refseq.codonCoord_2=335;refseq.end_1=51988858;refseq.end_2=51988858;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1069;refseq.mrnaCoord_2=1168;refseq.name2_1=AAAS;refseq.name2_2=AAAS;refseq.name_1=NM_001173466;refseq.name_2=NM_015665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C302W;refseq.proteinCoordStr_2=p.C335W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=51988858;refseq.start_2=51988858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr12 51989288 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=2;HaplotypeScore=7.17;MQ=98.86;MQ0=0;OQ=7636.14;QD=39.57;RankSumP=1.00000;SB=-3722.74;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.756C>T;refseq.codingCoordStr_2=c.855C>T;refseq.codonCoord_1=252;refseq.codonCoord_2=285;refseq.end_1=51989288;refseq.end_2=51989288;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=1018;refseq.name2_1=AAAS;refseq.name2_2=AAAS;refseq.name_1=NM_001173466;refseq.name_2=NM_015665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F252F;refseq.proteinCoordStr_2=p.F285F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=51989288;refseq.start_2=51989288;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr12 51995177 . A G 251.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=98.82;MQ0=0;OQ=7545.34;QD=40.13;RankSumP=1.00000;SB=-3492.19;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.414T>C;refseq.codingCoordStr_2=c.414T>C;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.end_1=51995177;refseq.end_2=51995177;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=577;refseq.mrnaCoord_2=577;refseq.name2_1=AAAS;refseq.name2_2=AAAS;refseq.name_1=NM_001173466;refseq.name_2=NM_015665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D138D;refseq.proteinCoordStr_2=p.D138D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=51995177;refseq.start_2=51995177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=filterInsoap-gatk GT 1/1 chr12 52062450 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.431C>G;refseq.codingCoordStr_2=c.452C>G;refseq.codonCoord_1=144;refseq.codonCoord_2=151;refseq.end_1=52062450;refseq.end_2=52062450;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=486;refseq.mrnaCoord_2=549;refseq.name2_1=SP1;refseq.name2_2=SP1;refseq.name_1=NM_003109;refseq.name_2=NM_138473;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A144G;refseq.proteinCoordStr_2=p.A151G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=290;refseq.spliceDist_2=290;refseq.start_1=52062450;refseq.start_2=52062450;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr12 52123737 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0243988;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.165A>G;refseq.codingCoordStr_2=c.315A>G;refseq.codonCoord_1=55;refseq.codonCoord_2=105;refseq.end_1=52123737;refseq.end_2=52123737;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_2=479;refseq.name2_1=PRR13;refseq.name2_2=PRR13;refseq.name_1=NM_001005354;refseq.name_2=NM_018457;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V55V;refseq.proteinCoordStr_2=p.V105V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=52123737;refseq.start_2=52123737;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr12 52636400 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.632A>C;refseq.codonCoord=211;refseq.end=52636400;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_173860;refseq.name2=HOXC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N211T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=22;refseq.start=52636400;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr12 52653328 . T G 181.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.11;MQ0=0;OQ=3512.98;QD=32.83;RankSumP=1.00000;SB=-1513.53;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.36T>G;refseq.codonCoord=12;refseq.end=52653328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_014212;refseq.name2=HOXC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S12S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=152;refseq.start=52653328;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr12 52665945 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=99.00;MQ0=0;OQ=837.21;QD=19.03;RankSumP=0.0902171;SB=-438.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.635A>G;refseq.codonCoord=212;refseq.end=52665945;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_017409;refseq.name2=HOXC10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N212S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-117;refseq.start=52665945;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr12 52671866 . C T 232.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.72;MQ0=0;OQ=1656.42;QD=17.08;RankSumP=0.0752604;SB=-505.48;SecondBestBaseQ=31;refseq.chr=chr12;refseq.end=52671866;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=78;refseq.name=NR_029617;refseq.name2=MIR196A2;refseq.positionType=non_coding_exon;refseq.spliceDist=-33;refseq.start=52671866;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr12 52680764 . C T 321.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.52;MQ0=0;OQ=1093.82;QD=35.28;RankSumP=1.00000;SB=-504.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=52680764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_006897;refseq.name2=HOXC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A175A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-14;refseq.start=52680764;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 52734373 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=104;Dels=0.00;HRun=0;HaplotypeScore=7.07;MQ=98.33;MQ0=0;OQ=1330.70;QD=12.80;RankSumP=0.489603;SB=-670.80;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.400A>G;refseq.codingCoordStr_2=c.400A>G;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.end_1=52734373;refseq.end_2=52734373;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1080;refseq.mrnaCoord_2=446;refseq.name2_1=HOXC4;refseq.name2_2=HOXC4;refseq.name_1=NM_014620;refseq.name_2=NM_153633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I134V;refseq.proteinCoordStr_2=p.I134V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=52734373;refseq.start_2=52734373;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr12 53025527 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.278T>G;refseq.codonCoord=93;refseq.end=53025527;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_016057;refseq.name2=COPZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=17;refseq.start=53025527;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 53085717 . A G 238.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=3177.35;QD=35.30;RankSumP=1.00000;SB=-1392.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1014T>C;refseq.codonCoord=338;refseq.end=53085717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_002205;refseq.name2=ITGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D338D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=53085717;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 53087912 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.833T>G;refseq.codonCoord=278;refseq.end=53087912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_002205;refseq.name2=ITGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V278G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=16;refseq.start=53087912;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr12 53089296 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.570A>C;refseq.codonCoord=190;refseq.end=53089296;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_002205;refseq.name2=ITGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A190A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-14;refseq.start=53089296;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr12 53192082 . C G 260.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=98.78;MQ0=0;OQ=14210.58;QD=43.86;RankSumP=1.00000;SB=-5452.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.867C>G;refseq.codonCoord=289;refseq.end=53192082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_005337;refseq.name2=NCKAP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L289L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-75;refseq.start=53192082;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 53197693 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=319;Dels=0.00;HRun=1;HaplotypeScore=21.09;MQ=98.49;MQ0=0;OQ=6135.58;QD=19.23;RankSumP=0.492863;SB=-1423.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1205C>T;refseq.codonCoord=402;refseq.end=53197693;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1284;refseq.name=NM_005337;refseq.name2=NCKAP1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S402L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=53197693;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr12 53256721 . T C 354.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2508.46;QD=40.46;RankSumP=1.00000;SB=-476.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1476T>C;refseq.codingCoordStr_2=c.1416T>C;refseq.codonCoord_1=492;refseq.codonCoord_2=472;refseq.end_1=53256721;refseq.end_2=53256721;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1869;refseq.mrnaCoord_2=1686;refseq.name2_1=PDE1B;refseq.name2_2=PDE1B;refseq.name_1=NM_000924;refseq.name_2=NM_001165975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N492N;refseq.proteinCoordStr_2=p.N472N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=53256721;refseq.start_2=53256721;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr12 53536879 . A G 133.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=2371.49;QD=33.40;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.159A>G;refseq.codonCoord=53;refseq.end=53536879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_058173;refseq.name2=MUCL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=59;refseq.start=53536879;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr12 53810353 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.534C>G;refseq.codonCoord=178;refseq.end=53810353;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_001005243;refseq.name2=OR9K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C178W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-475;refseq.start=53810353;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 53901835 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.760A>C;refseq.codonCoord=254;refseq.end=53901835;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_001005280;refseq.name2=OR10A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T254P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-192;refseq.start=53901835;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr12 53974534 . G A 218.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.66;MQ0=0;OQ=14722.62;QD=42.43;RankSumP=1.00000;SB=-6385.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.750C>T;refseq.codonCoord=250;refseq.end=53974534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_001005493;refseq.name2=OR6C6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y250Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-196;refseq.start=53974534;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr12 54001039 . G A 401.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.63;MQ0=0;OQ=3731.11;QD=41.00;RankSumP=1.00000;SB=-900.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.389G>A;refseq.codonCoord=130;refseq.end=54001039;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001005182;refseq.name2=OR6C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C130Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=389;refseq.start=54001039;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr12 54001143 . C G 169.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=5980.06;QD=49.02;RankSumP=1.00000;SB=-1693.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.493C>G;refseq.codonCoord=165;refseq.end=54001143;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_001005182;refseq.name2=OR6C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H165D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-447;refseq.start=54001143;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr12 54001386 . G A 251.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=97.49;MQ0=0;OQ=15157.15;QD=41.53;RankSumP=1.00000;SB=-5889.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.736G>A;refseq.codonCoord=246;refseq.end=54001386;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_001005182;refseq.name2=OR6C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V246I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-204;refseq.start=54001386;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 54001406 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.756C>G;refseq.codonCoord=252;refseq.end=54001406;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=756;refseq.name=NM_001005182;refseq.name2=OR6C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S252R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-184;refseq.start=54001406;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr12 54045229 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.68T>G;refseq.codonCoord=23;refseq.end=54045229;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=68;refseq.name=NM_001005497;refseq.name2=OR6C75;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=68;refseq.start=54045229;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 54081243 . A G 153.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=611;Dels=0.00;HRun=0;HaplotypeScore=11.20;MQ=98.93;MQ0=0;OQ=25288.38;QD=41.39;RankSumP=1.00000;SB=-9162.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.664A>G;refseq.codonCoord=222;refseq.end=54081243;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_001005518;refseq.name2=OR6C65;refseq.positionType=CDS;refseq.proteinCoordStr=p.T222A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-276;refseq.start=54081243;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr12 54106388 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=2;HaplotypeScore=2.84;MQ=98.87;MQ0=0;OQ=17014.14;QD=42.54;RankSumP=1.00000;SB=-7739.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.84C>T;refseq.codonCoord=28;refseq.end=54106388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_001005183;refseq.name2=OR6C76;refseq.positionType=CDS;refseq.proteinCoordStr=p.F28F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=84;refseq.start=54106388;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr12 54149491 . C G 177.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.82;MQ0=0;OQ=3897.76;QD=21.42;RankSumP=0.302605;SB=-1314.11;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.699G>C;refseq.codonCoord=233;refseq.end=54149491;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=699;refseq.name=NM_001005499;refseq.name2=OR6C70;refseq.positionType=CDS;refseq.proteinCoordStr=p.K233N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-241;refseq.start=54149491;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr12 54149648 . A G 335.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=6836.49;QD=41.94;RankSumP=1.00000;SB=-3168.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.542T>C;refseq.codonCoord=181;refseq.end=54149648;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_001005499;refseq.name2=OR6C70;refseq.positionType=CDS;refseq.proteinCoordStr=p.L181P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-398;refseq.start=54149648;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr12 54149665 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3110.86;QD=19.69;RankSumP=0.488085;SB=-1506.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=54149665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_001005499;refseq.name2=OR6C70;refseq.positionType=CDS;refseq.proteinCoordStr=p.F175F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-415;refseq.start=54149665;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr12 54172561 . G A 99.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=14.78;MQ=98.79;MQ0=0;OQ=18923.05;QD=40.78;RankSumP=1.00000;SB=-9097.80;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.148G>A;refseq.codonCoord=50;refseq.end=54172561;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_001005519;refseq.name2=OR6C68;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=148;refseq.start=54172561;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 54172756 . T A 146.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=2;HaplotypeScore=4.16;MQ=98.47;MQ0=0;OQ=6144.25;QD=19.38;RankSumP=0.00352964;SB=-2228.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.343T>A;refseq.codonCoord=115;refseq.end=54172756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=343;refseq.name=NM_001005519;refseq.name2=OR6C68;refseq.positionType=CDS;refseq.proteinCoordStr=p.F115I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=343;refseq.start=54172756;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=filterInsoap-gatk GT 1/0 chr12 54173184 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.771C>G;refseq.codonCoord=257;refseq.end=54173184;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_001005519;refseq.name2=OR6C68;refseq.positionType=CDS;refseq.proteinCoordStr=p.S257R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-184;refseq.start=54173184;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr12 54173354 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.88;MQ0=0;OQ=1149.27;QD=14.37;RankSumP=0.486731;SB=-266.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.941G>T;refseq.codonCoord=314;refseq.end=54173354;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_001005519;refseq.name2=OR6C68;refseq.positionType=CDS;refseq.proteinCoordStr=p.R314L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-14;refseq.start=54173354;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr12 54231386 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=708;Dels=0.00;HRun=0;HaplotypeScore=13.43;MQ=98.69;MQ0=0;OQ=29351.05;QD=41.46;RankSumP=1.00000;SB=-12653.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.109A>G;refseq.codonCoord=37;refseq.end=54231386;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=109;refseq.name=NM_001005494;refseq.name2=OR6C4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I37V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=109;refseq.start=54231386;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr12 54317205 . C T 222.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.71;MQ0=0;OQ=1811.84;QD=16.62;RankSumP=0.396252;SB=-327.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.263C>T;refseq.codonCoord=88;refseq.end=54317205;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_206899;refseq.name2=OR10P1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P88L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=263;refseq.start=54317205;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 54317540 . G A 299.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=14.75;MQ=98.19;MQ0=0;OQ=8458.32;QD=19.95;RankSumP=0.468858;SB=-2966.85;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.598G>A;refseq.codonCoord=200;refseq.end=54317540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_206899;refseq.name2=OR10P1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-345;refseq.start=54317540;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr12 54363866 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=341;Dels=0.00;HRun=0;HaplotypeScore=11.89;MQ=98.69;MQ0=0;OQ=6137.12;QD=18.00;RankSumP=0.00202009;SB=-2526.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.501A>T;refseq.codonCoord=167;refseq.end=54363866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_152637;refseq.name2=METTL7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G167G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=54363866;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr12 54364007 . C T 197.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.96;MQ0=0;OQ=3045.08;QD=16.64;RankSumP=0.0561573;SB=-994.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.642C>T;refseq.codonCoord=214;refseq.end=54364007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_152637;refseq.name2=METTL7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N214N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=144;refseq.start=54364007;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 54368292 . G C 362.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=5.05;MQ=98.76;MQ0=0;OQ=4594.77;QD=18.60;RankSumP=0.494580;SB=-1927.27;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.3030C>G;refseq.codingCoordStr_2=c.2739C>G;refseq.codingCoordStr_3=c.3018C>G;refseq.codonCoord_1=1010;refseq.codonCoord_2=913;refseq.codonCoord_3=1006;refseq.end_1=54368292;refseq.end_2=54368292;refseq.end_3=54368292;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3250;refseq.mrnaCoord_2=2775;refseq.mrnaCoord_3=3238;refseq.name2_1=ITGA7;refseq.name2_2=ITGA7;refseq.name2_3=ITGA7;refseq.name_1=NM_001144996;refseq.name_2=NM_001144997;refseq.name_3=NM_002206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1010S;refseq.proteinCoordStr_2=p.S913S;refseq.proteinCoordStr_3=p.S1006S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=54368292;refseq.start_2=54368292;refseq.start_3=54368292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chr12 54374744 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2211G>A;refseq.codingCoordStr_2=c.1920G>A;refseq.codingCoordStr_3=c.2199G>A;refseq.codonCoord_1=737;refseq.codonCoord_2=640;refseq.codonCoord_3=733;refseq.end_1=54374744;refseq.end_2=54374744;refseq.end_3=54374744;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2431;refseq.mrnaCoord_2=1956;refseq.mrnaCoord_3=2419;refseq.name2_1=ITGA7;refseq.name2_2=ITGA7;refseq.name2_3=ITGA7;refseq.name_1=NM_001144996;refseq.name_2=NM_001144997;refseq.name_3=NM_002206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E737E;refseq.proteinCoordStr_2=p.E640E;refseq.proteinCoordStr_3=p.E733E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=54374744;refseq.start_2=54374744;refseq.start_3=54374744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 0/1 chr12 54375624 . C T 259.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=8.72;MQ=98.94;MQ0=0;OQ=6794.40;QD=15.34;RankSumP=0.00100264;SB=-2408.62;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1964G>A;refseq.codingCoordStr_2=c.1673G>A;refseq.codingCoordStr_3=c.1952G>A;refseq.codonCoord_1=655;refseq.codonCoord_2=558;refseq.codonCoord_3=651;refseq.end_1=54375624;refseq.end_2=54375624;refseq.end_3=54375624;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2184;refseq.mrnaCoord_2=1709;refseq.mrnaCoord_3=2172;refseq.name2_1=ITGA7;refseq.name2_2=ITGA7;refseq.name2_3=ITGA7;refseq.name_1=NM_001144996;refseq.name_2=NM_001144997;refseq.name_3=NM_002206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R655H;refseq.proteinCoordStr_2=p.R558H;refseq.proteinCoordStr_3=p.R651H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=54375624;refseq.start_2=54375624;refseq.start_3=54375624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=filterInsoap-gatk GT 0/1 chr12 54378907 . T C 30 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=81;Dels=0.00;HRun=2;HaplotypeScore=9.58;MQ=97.78;MQ0=0;QD=0.16;RankSumP=1.33857e-07;SB=98.34;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.864A>G;refseq.codingCoordStr_2=c.573A>G;refseq.codingCoordStr_3=c.852A>G;refseq.codonCoord_1=288;refseq.codonCoord_2=191;refseq.codonCoord_3=284;refseq.end_1=54378907;refseq.end_2=54378907;refseq.end_3=54378907;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1084;refseq.mrnaCoord_2=609;refseq.mrnaCoord_3=1072;refseq.name2_1=ITGA7;refseq.name2_2=ITGA7;refseq.name2_3=ITGA7;refseq.name_1=NM_001144996;refseq.name_2=NM_001144997;refseq.name_3=NM_002206;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G288G;refseq.proteinCoordStr_2=p.G191G;refseq.proteinCoordStr_3=p.G284G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.spliceDist_3=62;refseq.start_1=54378907;refseq.start_2=54378907;refseq.start_3=54378907;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr12 54401777 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.348T>G;refseq.codonCoord=116;refseq.end=54401777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_002905;refseq.name2=RDH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G116G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=38;refseq.start=54401777;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 54403967 . C G 139.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=10.55;MQ=98.77;MQ0=0;OQ=7831.95;QD=23.66;RankSumP=0.280692;SB=-3363.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.600C>G;refseq.codonCoord=200;refseq.end=54403967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_002905;refseq.name2=RDH5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=31;refseq.start=54403967;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 54428937 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.15105e-06;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.746G>C;refseq.codonCoord=249;refseq.end=54428937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=783;refseq.name=NM_005811;refseq.name2=GDF11;refseq.positionType=CDS;refseq.proteinCoordStr=p.R249P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-98;refseq.start=54428937;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 54508038 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.672T>G;refseq.codonCoord=224;refseq.end=54508038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_032364;refseq.name2=DNAJC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G224G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=728;refseq.start=54508038;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 54520788 . A C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=2.71217e-09;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.450T>G;refseq.codonCoord=150;refseq.end=54520788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_002429;refseq.name2=MMP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.G150G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-71;refseq.start=54520788;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 54522460 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.117G>A;refseq.codonCoord=39;refseq.end=54522460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_002429;refseq.name2=MMP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q39Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=30;refseq.start=54522460;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr12 54522798 . A G 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.51;MQ0=0;OQ=696.64;QD=30.29;RankSumP=1.00000;SB=-235.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.84T>C;refseq.codonCoord=28;refseq.end=54522798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_002429;refseq.name2=MMP19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P28P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=54522798;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr12 54582001 . A G 115.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=226;Dels=0.00;HRun=2;HaplotypeScore=3.36;MQ=98.44;MQ0=0;OQ=8264.92;QD=36.57;RankSumP=1.00000;SB=-1835.38;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.534T>C;refseq.codingCoordStr_2=c.537T>C;refseq.codonCoord_1=178;refseq.codonCoord_2=179;refseq.end_1=54582001;refseq.end_2=54582001;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=550;refseq.mrnaCoord_2=689;refseq.name2_1=WIBG;refseq.name2_2=WIBG;refseq.name_1=NM_001143853;refseq.name_2=NM_032345;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P178P;refseq.proteinCoordStr_2=p.P179P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=406;refseq.spliceDist_2=406;refseq.start_1=54582001;refseq.start_2=54582001;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr12 54621374 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=10.36;MQ=98.87;MQ0=0;OQ=2724.89;QD=32.06;RankSumP=1.00000;SB=-53.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1173A>G;refseq.codingCoordStr_2=c.1173A>G;refseq.codingCoordStr_3=c.1173A>G;refseq.codingCoordStr_4=c.1173A>G;refseq.codonCoord_1=391;refseq.codonCoord_2=391;refseq.codonCoord_3=391;refseq.codonCoord_4=391;refseq.end_1=54621374;refseq.end_2=54621374;refseq.end_3=54621374;refseq.end_4=54621374;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1437;refseq.mrnaCoord_2=1482;refseq.mrnaCoord_3=1450;refseq.mrnaCoord_4=1350;refseq.name2_1=DGKA;refseq.name2_2=DGKA;refseq.name2_3=DGKA;refseq.name2_4=DGKA;refseq.name_1=NM_001345;refseq.name_2=NM_201444;refseq.name_3=NM_201445;refseq.name_4=NM_201554;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q391Q;refseq.proteinCoordStr_2=p.Q391Q;refseq.proteinCoordStr_3=p.Q391Q;refseq.proteinCoordStr_4=p.Q391Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceDist_4=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.spliceInfo_4=splice-donor_-3;refseq.start_1=54621374;refseq.start_2=54621374;refseq.start_3=54621374;refseq.start_4=54621374;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/1 chr12 54634295 . G A 205.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=11.45;MQ=98.80;MQ0=0;OQ=12356.46;QD=34.23;RankSumP=1.00000;SB=-4883.39;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1956C>T;refseq.codonCoord=652;refseq.end=54634295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_006928;refseq.name2=SILV;refseq.positionType=CDS;refseq.proteinCoordStr=p.N652N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=106;refseq.start=54634295;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr12 54637613 . G A 301.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.95;MQ0=0;OQ=2185.62;QD=16.68;RankSumP=0.170000;SB=-1064.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.741C>T;refseq.codonCoord=247;refseq.end=54637613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_006928;refseq.name2=SILV;refseq.positionType=CDS;refseq.proteinCoordStr=p.P247P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=110;refseq.start=54637613;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr12 54638576 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=129;Dels=0.00;HRun=1;HaplotypeScore=4.91;MQ=98.63;MQ0=0;OQ=2148.85;QD=16.66;RankSumP=0.116026;SB=-572.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.417A>T;refseq.codonCoord=139;refseq.end=54638576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_006928;refseq.name2=SILV;refseq.positionType=CDS;refseq.proteinCoordStr=p.P139P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-53;refseq.start=54638576;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr12 54638639 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.354A>C;refseq.codonCoord=118;refseq.end=54638639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_006928;refseq.name2=SILV;refseq.positionType=CDS;refseq.proteinCoordStr=p.G118G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=20;refseq.start=54638639;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr12 54684721 . G C 294.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.50;MQ0=0;OQ=6312.76;QD=43.84;RankSumP=1.00000;SB=-2732.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1281G>C;refseq.codingCoordStr_2=c.1281G>C;refseq.codingCoordStr_3=c.1281G>C;refseq.codonCoord_1=427;refseq.codonCoord_2=427;refseq.codonCoord_3=427;refseq.end_1=54684721;refseq.end_2=54684721;refseq.end_3=54684721;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1607;refseq.mrnaCoord_2=1481;refseq.mrnaCoord_3=1372;refseq.name2_1=SUOX;refseq.name2_2=SUOX;refseq.name2_3=SUOX;refseq.name_1=NM_000456;refseq.name_2=NM_001032386;refseq.name_3=NM_001032387;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S427S;refseq.proteinCoordStr_2=p.S427S;refseq.proteinCoordStr_3=p.S427S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-856;refseq.spliceDist_2=-856;refseq.spliceDist_3=-856;refseq.start_1=54684721;refseq.start_2=54684721;refseq.start_3=54684721;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr12 54781258 . G A 174.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=4.52;MQ=98.94;MQ0=0;OQ=1962.70;QD=19.24;RankSumP=0.192961;SB=-791.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3348G>A;refseq.codonCoord=1116;refseq.end=54781258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3541;refseq.name=NM_001982;refseq.name2=ERBB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1116R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=147;refseq.start=54781258;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr12 54950308 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=408;Dels=0.00;HRun=2;HaplotypeScore=10.43;MQ=98.85;MQ0=0;OQ=9065.06;QD=22.22;RankSumP=0.461102;SB=-3638.32;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.588G>A;refseq.codingCoordStr_2=c.684G>A;refseq.codonCoord_1=196;refseq.codonCoord_2=228;refseq.end_1=54950308;refseq.end_2=54950308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=701;refseq.mrnaCoord_2=945;refseq.name2_1=COQ10A;refseq.name2_2=COQ10A;refseq.name_1=NM_001099337;refseq.name_2=NM_144576;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K196K;refseq.proteinCoordStr_2=p.K228K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.start_1=54950308;refseq.start_2=54950308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr12 54962499 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.0384713;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.560A>G;refseq.codonCoord=187;refseq.end=54962499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_004077;refseq.name2=CS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q187R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-29;refseq.start=54962499;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr12 54962511 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=284;Dels=0.00;HRun=1;HaplotypeScore=2.53;MQ=86.43;MQ0=24;OQ=69.29;QD=0.24;RankSumP=0.303259;SB=-58.41;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.548G>A;refseq.codonCoord=183;refseq.end=54962511;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_004077;refseq.name2=CS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R183Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-41;refseq.start=54962511;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr12 55007572 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=3.15045e-05;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.762C>T;refseq.codingCoordStr_2=c.762C>T;refseq.codingCoordStr_3=c.762C>T;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.codonCoord_3=254;refseq.end_1=55007572;refseq.end_2=55007572;refseq.end_3=55007572;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1139;refseq.mrnaCoord_2=1068;refseq.mrnaCoord_3=1068;refseq.name2_1=PAN2;refseq.name2_2=PAN2;refseq.name2_3=PAN2;refseq.name_1=NM_001127460;refseq.name_2=NM_001166279;refseq.name_3=NM_014871;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F254F;refseq.proteinCoordStr_2=p.F254F;refseq.proteinCoordStr_3=p.F254F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=111;refseq.start_1=55007572;refseq.start_2=55007572;refseq.start_3=55007572;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr12 55008327 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=590;Dels=0.00;HRun=0;HaplotypeScore=20.48;MQ=98.82;MQ0=0;OQ=23696.24;QD=40.16;RankSumP=1.00000;SB=-10659.54;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.535A>C;refseq.codingCoordStr_2=c.535A>C;refseq.codingCoordStr_3=c.535A>C;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=55008327;refseq.end_2=55008327;refseq.end_3=55008327;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=912;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=841;refseq.name2_1=PAN2;refseq.name2_2=PAN2;refseq.name2_3=PAN2;refseq.name_1=NM_001127460;refseq.name_2=NM_001166279;refseq.name_3=NM_014871;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I179L;refseq.proteinCoordStr_2=p.I179L;refseq.proteinCoordStr_3=p.I179L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=55008327;refseq.start_2=55008327;refseq.start_3=55008327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr12 55100920 . G A 152.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=14.82;MQ=98.55;MQ0=0;OQ=11982.49;QD=42.04;RankSumP=1.00000;SB=-5264.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3053C>T;refseq.codonCoord=1018;refseq.end=55100920;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3221;refseq.name=NM_003920;refseq.name2=TIMELESS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1018L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=13;refseq.start=55100920;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 55102189 . C T 250.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=98.96;MQ0=0;OQ=6536.21;QD=22.46;RankSumP=0.0397205;SB=-2764.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2492G>A;refseq.codonCoord=831;refseq.end=55102189;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2660;refseq.name=NM_003920;refseq.name2=TIMELESS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R831Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-33;refseq.start=55102189;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr12 55108645 . T A 212.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=98.45;MQ0=0;OQ=2646.01;QD=14.70;RankSumP=0.326940;SB=-1239.28;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1363A>T;refseq.codonCoord=455;refseq.end=55108645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_003920;refseq.name2=TIMELESS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I455L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-46;refseq.start=55108645;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr12 55111578 . C T 297.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.81;MQ0=0;OQ=4509.57;QD=19.27;RankSumP=0.113905;SB=-1607.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.765G>A;refseq.codonCoord=255;refseq.end=55111578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=933;refseq.name=NM_003920;refseq.name2=TIMELESS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V255V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-57;refseq.start=55111578;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr12 55113961 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=900.52;QD=12.68;RankSumP=0.458582;SB=-161.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.114G>C;refseq.codonCoord=38;refseq.end=55113961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_003920;refseq.name2=TIMELESS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L38L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=17;refseq.start=55113961;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr12 55149153 . T C 376.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.08;MQ0=0;OQ=5852.62;QD=34.84;RankSumP=1.00000;SB=-1797.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.149T>C;refseq.codonCoord=50;refseq.end=55149153;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_207344;refseq.name2=SPRYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M50T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=64;refseq.start=55149153;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr12 55151605 . A G 115.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=98.82;MQ0=0;OQ=1612.08;QD=13.66;RankSumP=0.0703563;SB=-497.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1742T>C;refseq.codonCoord=581;refseq.end=55151605;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2021;refseq.name=NM_013267;refseq.name2=GLS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L581P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=90;refseq.start=55151605;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr12 55168009 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.38381e-06;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.161A>C;refseq.codonCoord=54;refseq.end=55168009;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_013267;refseq.name2=GLS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H54P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-22;refseq.start=55168009;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 55392927 . A T 128.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=577;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=96.12;MQ0=3;OQ=10521.79;QD=18.24;RankSumP=0.334704;SB=-3894.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.543T>A;refseq.codingCoordStr_2=c.543T>A;refseq.codingCoordStr_3=c.6132T>A;refseq.codingCoordStr_4=c.543T>A;refseq.codonCoord_1=181;refseq.codonCoord_2=181;refseq.codonCoord_3=2044;refseq.codonCoord_4=181;refseq.end_1=55392927;refseq.end_2=55392927;refseq.end_3=55392927;refseq.end_4=55392927;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=892;refseq.mrnaCoord_2=825;refseq.mrnaCoord_3=6414;refseq.mrnaCoord_4=866;refseq.name2_1=NACA;refseq.name2_2=NACA;refseq.name2_3=NACA;refseq.name2_4=NACA;refseq.name_1=NM_001113201;refseq.name_2=NM_001113202;refseq.name_3=NM_001113203;refseq.name_4=NM_005594;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I181I;refseq.proteinCoordStr_2=p.I181I;refseq.proteinCoordStr_3=p.I2044I;refseq.proteinCoordStr_4=p.I181I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=55392927;refseq.start_2=55392927;refseq.start_3=55392927;refseq.start_4=55392927;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 0/1 chr12 55394470 . A G 266.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.75;MQ0=0;OQ=5620.80;QD=20.07;RankSumP=0.366316;SB=-1931.66;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.177T>C;refseq.codingCoordStr_2=c.177T>C;refseq.codingCoordStr_3=c.5766T>C;refseq.codingCoordStr_4=c.177T>C;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.codonCoord_3=1922;refseq.codonCoord_4=59;refseq.end_1=55394470;refseq.end_2=55394470;refseq.end_3=55394470;refseq.end_4=55394470;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=526;refseq.mrnaCoord_2=459;refseq.mrnaCoord_3=6048;refseq.mrnaCoord_4=500;refseq.name2_1=NACA;refseq.name2_2=NACA;refseq.name2_3=NACA;refseq.name2_4=NACA;refseq.name_1=NM_001113201;refseq.name_2=NM_001113202;refseq.name_3=NM_001113203;refseq.name_4=NM_005594;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I59I;refseq.proteinCoordStr_2=p.I59I;refseq.proteinCoordStr_3=p.I1922I;refseq.proteinCoordStr_4=p.I59I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=55394470;refseq.start_2=55394470;refseq.start_3=55394470;refseq.start_4=55394470;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 0/1 chr12 55453971 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.68T>G;refseq.codonCoord=23;refseq.end=55453971;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_003725;refseq.name2=HSD17B6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=87;refseq.start=55453971;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 55614093 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.220C>G;refseq.codonCoord=74;refseq.end=55614093;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_148897;refseq.name2=SDR9C7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q74E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-82;refseq.start=55614093;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr12 55637446 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.68T>G;refseq.codonCoord=23;refseq.end=55637446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_003708;refseq.name2=RDH16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=240;refseq.start=55637446;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 55683079 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=147;Dels=0.00;HRun=2;HaplotypeScore=13.02;MQ=97.73;MQ0=0;OQ=71.36;QD=0.49;RankSumP=2.63892e-08;SB=200.57;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1890G>A;refseq.codonCoord=630;refseq.end=55683079;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1976;refseq.name=NM_014830;refseq.name2=ZBTB39;refseq.positionType=CDS;refseq.proteinCoordStr=p.E630E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1934;refseq.start=55683079;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr12 55684293 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.676A>C;refseq.codonCoord=226;refseq.end=55684293;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_014830;refseq.name2=ZBTB39;refseq.positionType=CDS;refseq.proteinCoordStr=p.T226P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=720;refseq.start=55684293;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 55845912 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2588A>C;refseq.codonCoord=863;refseq.end=55845912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3054;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N863T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=58;refseq.start=55845912;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr12 55855537 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=3.78800e-08;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3575G>C;refseq.codonCoord=1192;refseq.end=55855537;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4041;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1192S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=28;refseq.start=55855537;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 55871411 . C T 454.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=98.07;MQ0=0;OQ=4174.28;QD=38.30;RankSumP=1.00000;SB=-1818.08;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.7278C>T;refseq.codonCoord=2426;refseq.end=55871411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7744;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2426A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=42;refseq.start=55871411;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 55874005 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.7861T>C;refseq.codonCoord=2621;refseq.end=55874005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8327;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2621P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=57;refseq.start=55874005;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 55876051 . A C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=162;Dels=0.01;HRun=2;HaplotypeScore=5.75;MQ=97.73;MQ0=0;OQ=6128.86;QD=37.83;RankSumP=1.00000;SB=-1828.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.8699A>C;refseq.codonCoord=2900;refseq.end=55876051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9165;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2900P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=55876051;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr12 55877136 . T C 183.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=9.48;MQ=98.43;MQ0=0;OQ=7953.69;QD=37.52;RankSumP=1.00000;SB=-2610.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.8997T>C;refseq.codonCoord=2999;refseq.end=55877136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9463;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2999T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-80;refseq.start=55877136;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 55879368 . G A 193.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=99.00;MQ0=0;OQ=3561.71;QD=40.02;RankSumP=1.00000;SB=-1642.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.9783G>A;refseq.codonCoord=3261;refseq.end=55879368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10249;refseq.name=NM_002332;refseq.name2=LRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3261T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-83;refseq.start=55879368;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 55905476 . C G 1.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=15;Dels=0.00;HRun=3;HaplotypeScore=2.70;MQ=94.90;MQ0=0;OQ=322.37;QD=21.49;RankSumP=0.375000;SB=-49.92;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.606C>G;refseq.codonCoord=202;refseq.end=55905476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_007224;refseq.name2=NXPH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P202P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=549;refseq.start=55905476;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr12 55923860 . G A 135.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.35;MQ0=0;OQ=475.26;QD=15.84;RankSumP=0.0907885;SB=-6.99;SecondBestBaseQ=30;refseq.chr=chr12;refseq.codingCoordStr=c.*2C>T;refseq.end=55923860;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1292;refseq.name=NM_145064;refseq.name2=STAC3;refseq.positionType=utr3;refseq.spliceDist=101;refseq.start=55923860;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr12 55934845 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.33930e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2909T>G;refseq.codonCoord=970;refseq.end=55934845;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2944;refseq.name=NM_014925;refseq.name2=R3HDM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L970R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=319;refseq.start=55934845;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 0/1 chr12 55934950 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2804T>G;refseq.codonCoord=935;refseq.end=55934950;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2839;refseq.name=NM_014925;refseq.name2=R3HDM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V935G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=214;refseq.start=55934950;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 55936107 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=2;HaplotypeScore=9.43;MQ=98.70;MQ0=0;OQ=4519.06;QD=15.11;RankSumP=0.0784873;SB=-1376.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2523G>A;refseq.codonCoord=841;refseq.end=55936107;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2558;refseq.name=NM_014925;refseq.name2=R3HDM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K841K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=18;refseq.start=55936107;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr12 56145698 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.73;MQ0=0;OQ=976.05;QD=13.56;RankSumP=0.211345;SB=-349.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.192G>A;refseq.codingCoordStr_2=c.453G>A;refseq.codingCoordStr_3=c.576G>A;refseq.codonCoord_1=64;refseq.codonCoord_2=151;refseq.codonCoord_3=192;refseq.end_1=56145698;refseq.end_2=56145698;refseq.end_3=56145698;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=450;refseq.mrnaCoord_2=531;refseq.mrnaCoord_3=654;refseq.name2_1=GLI1;refseq.name2_2=GLI1;refseq.name2_3=GLI1;refseq.name_1=NM_001160045;refseq.name_2=NM_001167609;refseq.name_3=NM_005269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E64E;refseq.proteinCoordStr_2=p.E151E;refseq.proteinCoordStr_3=p.E192E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=56145698;refseq.start_2=56145698;refseq.start_3=56145698;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr12 56150806 . A G 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.128105;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1632A>G;refseq.codingCoordStr_2=c.1893A>G;refseq.codingCoordStr_3=c.2016A>G;refseq.codonCoord_1=544;refseq.codonCoord_2=631;refseq.codonCoord_3=672;refseq.end_1=56150806;refseq.end_2=56150806;refseq.end_3=56150806;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1890;refseq.mrnaCoord_2=1971;refseq.mrnaCoord_3=2094;refseq.name2_1=GLI1;refseq.name2_2=GLI1;refseq.name2_3=GLI1;refseq.name_1=NM_001160045;refseq.name_2=NM_001167609;refseq.name_3=NM_005269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G544G;refseq.proteinCoordStr_2=p.G631G;refseq.proteinCoordStr_3=p.G672G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=440;refseq.spliceDist_2=440;refseq.spliceDist_3=440;refseq.start_1=56150806;refseq.start_2=56150806;refseq.start_3=56150806;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=soap GT 0/1 chr12 56151280 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2106A>C;refseq.codingCoordStr_2=c.2367A>C;refseq.codingCoordStr_3=c.2490A>C;refseq.codonCoord_1=702;refseq.codonCoord_2=789;refseq.codonCoord_3=830;refseq.end_1=56151280;refseq.end_2=56151280;refseq.end_3=56151280;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2364;refseq.mrnaCoord_2=2445;refseq.mrnaCoord_3=2568;refseq.name2_1=GLI1;refseq.name2_2=GLI1;refseq.name2_3=GLI1;refseq.name_1=NM_001160045;refseq.name_2=NM_001167609;refseq.name_3=NM_005269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A702A;refseq.proteinCoordStr_2=p.A789A;refseq.proteinCoordStr_3=p.A830A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=914;refseq.spliceDist_2=914;refseq.spliceDist_3=914;refseq.start_1=56151280;refseq.start_2=56151280;refseq.start_3=56151280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr12 56151588 . G A 119.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.96;MQ0=0;OQ=2465.49;QD=12.03;RankSumP=0.00731705;SB=-1141.53;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2414G>A;refseq.codingCoordStr_2=c.2675G>A;refseq.codingCoordStr_3=c.2798G>A;refseq.codonCoord_1=805;refseq.codonCoord_2=892;refseq.codonCoord_3=933;refseq.end_1=56151588;refseq.end_2=56151588;refseq.end_3=56151588;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2672;refseq.mrnaCoord_2=2753;refseq.mrnaCoord_3=2876;refseq.name2_1=GLI1;refseq.name2_2=GLI1;refseq.name2_3=GLI1;refseq.name_1=NM_001160045;refseq.name_2=NM_001167609;refseq.name_3=NM_005269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G805D;refseq.proteinCoordStr_2=p.G892D;refseq.proteinCoordStr_3=p.G933D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-725;refseq.spliceDist_2=-725;refseq.spliceDist_3=-725;refseq.start_1=56151588;refseq.start_2=56151588;refseq.start_3=56151588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=filterInsoap-gatk GT 1/0 chr12 56152088 . G C 100.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=994.77;QD=22.61;RankSumP=0.160058;SB=-307.17;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.2914G>C;refseq.codingCoordStr_2=c.3175G>C;refseq.codingCoordStr_3=c.3298G>C;refseq.codonCoord_1=972;refseq.codonCoord_2=1059;refseq.codonCoord_3=1100;refseq.end_1=56152088;refseq.end_2=56152088;refseq.end_3=56152088;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3172;refseq.mrnaCoord_2=3253;refseq.mrnaCoord_3=3376;refseq.name2_1=GLI1;refseq.name2_2=GLI1;refseq.name2_3=GLI1;refseq.name_1=NM_001160045;refseq.name_2=NM_001167609;refseq.name_3=NM_005269;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E972Q;refseq.proteinCoordStr_2=p.E1059Q;refseq.proteinCoordStr_3=p.E1100Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-225;refseq.spliceDist_2=-225;refseq.spliceDist_3=-225;refseq.start_1=56152088;refseq.start_2=56152088;refseq.start_3=56152088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr12 56152584 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1627A>C;refseq.codingCoordStr_2=c.*150A>C;refseq.codingCoordStr_3=c.2179A>C;refseq.codonCoord_1=543;refseq.codonCoord_3=727;refseq.end_1=56152584;refseq.end_2=56152584;refseq.end_3=56152584;refseq.frame_1=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1806;refseq.mrnaCoord_2=2308;refseq.mrnaCoord_3=2318;refseq.name2_1=ARHGAP9;refseq.name2_2=ARHGAP9;refseq.name2_3=ARHGAP9;refseq.name_1=NM_001080156;refseq.name_2=NM_001080157;refseq.name_3=NM_032496;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T543P;refseq.proteinCoordStr_3=p.T727P;refseq.referenceAA_1=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=155;refseq.spliceDist_2=155;refseq.spliceDist_3=155;refseq.start_1=56152584;refseq.start_2=56152584;refseq.start_3=56152584;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr12 56156422 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=97.86;MQ0=0;OQ=961.90;QD=9.52;RankSumP=0.385013;SB=-306.79;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.556T>G;refseq.codingCoordStr_2=c.1108T>G;refseq.codingCoordStr_3=c.1108T>G;refseq.codonCoord_1=186;refseq.codonCoord_2=370;refseq.codonCoord_3=370;refseq.end_1=56156422;refseq.end_2=56156422;refseq.end_3=56156422;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=1343;refseq.mrnaCoord_3=1247;refseq.name2_1=ARHGAP9;refseq.name2_2=ARHGAP9;refseq.name2_3=ARHGAP9;refseq.name_1=NM_001080156;refseq.name_2=NM_001080157;refseq.name_3=NM_032496;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S186A;refseq.proteinCoordStr_2=p.S370A;refseq.proteinCoordStr_3=p.S370A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=56156422;refseq.start_2=56156422;refseq.start_3=56156422;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr12 56169373 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.257A>G;refseq.codonCoord=86;refseq.end=56169373;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_004990;refseq.name2=MARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.E86G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-23;refseq.start=56169373;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr12 56170634 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.710T>G;refseq.codonCoord=237;refseq.end=56170634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_004990;refseq.name2=MARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V237G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=47;refseq.start=56170634;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 56195227 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2232G>T;refseq.codonCoord=744;refseq.end=56195227;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2255;refseq.name=NM_004990;refseq.name2=MARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L744F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=28;refseq.start=56195227;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr12 56205783 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0130689;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.765T>A;refseq.codonCoord=255;refseq.end=56205783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=989;refseq.name=NM_052897;refseq.name2=MBD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=386;refseq.start=56205783;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr12 56252669 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=5.91574e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1609C>A;refseq.codonCoord=537;refseq.end=56252669;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1817;refseq.name=NM_004984;refseq.name2=KIF5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q537K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=40;refseq.start=56252669;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr12 56271471 . C T 112.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=4.91;MQ=98.00;MQ0=0;OQ=1479.93;QD=13.70;RankSumP=0.126014;SB=-750.17;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.132C>T;refseq.codingCoordStr_2=c.132C>T;refseq.codingCoordStr_3=c.132C>T;refseq.codingCoordStr_4=c.132C>T;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.codonCoord_4=44;refseq.end_1=56271471;refseq.end_2=56271471;refseq.end_3=56271471;refseq.end_4=56271471;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=263;refseq.mrnaCoord_3=263;refseq.mrnaCoord_4=263;refseq.name2_1=PIP4K2C;refseq.name2_2=PIP4K2C;refseq.name2_3=PIP4K2C;refseq.name2_4=PIP4K2C;refseq.name_1=NM_001146258;refseq.name_2=NM_001146259;refseq.name_3=NM_001146260;refseq.name_4=NM_024779;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A44A;refseq.proteinCoordStr_2=p.A44A;refseq.proteinCoordStr_3=p.A44A;refseq.proteinCoordStr_4=p.A44A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=56271471;refseq.start_2=56271471;refseq.start_3=56271471;refseq.start_4=56271471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 0/1 chr12 56281010 . T G 179.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2002.02;QD=39.26;RankSumP=1.00000;SB=-717.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.963T>G;refseq.codingCoordStr_2=c.909T>G;refseq.codingCoordStr_3=c.819T>G;refseq.codingCoordStr_4=c.963T>G;refseq.codonCoord_1=321;refseq.codonCoord_2=303;refseq.codonCoord_3=273;refseq.codonCoord_4=321;refseq.end_1=56281010;refseq.end_2=56281010;refseq.end_3=56281010;refseq.end_4=56281010;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1094;refseq.mrnaCoord_2=1040;refseq.mrnaCoord_3=950;refseq.mrnaCoord_4=1094;refseq.name2_1=PIP4K2C;refseq.name2_2=PIP4K2C;refseq.name2_3=PIP4K2C;refseq.name2_4=PIP4K2C;refseq.name_1=NM_001146258;refseq.name_2=NM_001146259;refseq.name_3=NM_001146260;refseq.name_4=NM_024779;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L321L;refseq.proteinCoordStr_2=p.L303L;refseq.proteinCoordStr_3=p.L273L;refseq.proteinCoordStr_4=p.L321L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=CTT;refseq.spliceDist_1=-119;refseq.spliceDist_2=-119;refseq.spliceDist_3=-119;refseq.spliceDist_4=-119;refseq.start_1=56281010;refseq.start_2=56281010;refseq.start_3=56281010;refseq.start_4=56281010;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr12 56281356 . T C 238.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=3.21;MQ=98.74;MQ0=0;OQ=6989.08;QD=38.19;RankSumP=1.00000;SB=-3354.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1143T>C;refseq.codingCoordStr_2=c.1089T>C;refseq.codingCoordStr_3=c.999T>C;refseq.codingCoordStr_4=c.1143T>C;refseq.codonCoord_1=381;refseq.codonCoord_2=363;refseq.codonCoord_3=333;refseq.codonCoord_4=381;refseq.end_1=56281356;refseq.end_2=56281356;refseq.end_3=56281356;refseq.end_4=56281356;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1274;refseq.mrnaCoord_2=1220;refseq.mrnaCoord_3=1130;refseq.mrnaCoord_4=1274;refseq.name2_1=PIP4K2C;refseq.name2_2=PIP4K2C;refseq.name2_3=PIP4K2C;refseq.name2_4=PIP4K2C;refseq.name_1=NM_001146258;refseq.name_2=NM_001146259;refseq.name_3=NM_001146260;refseq.name_4=NM_024779;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A381A;refseq.proteinCoordStr_2=p.A363A;refseq.proteinCoordStr_3=p.A333A;refseq.proteinCoordStr_4=p.A381A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=56281356;refseq.start_2=56281356;refseq.start_3=56281356;refseq.start_4=56281356;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr12 56296430 . A G 111.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.86;MQ0=0;OQ=1418.94;QD=16.12;RankSumP=0.119599;SB=-439.61;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1634A>G;refseq.codingCoordStr_2=c.1517A>G;refseq.codonCoord_1=545;refseq.codonCoord_2=506;refseq.end_1=56296430;refseq.end_2=56296430;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1671;refseq.mrnaCoord_2=1977;refseq.name2_1=GEFT;refseq.name2_2=GEFT;refseq.name_1=NM_001111270;refseq.name_2=NM_182947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q545R;refseq.proteinCoordStr_2=p.Q506R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=97;refseq.spliceDist_2=97;refseq.start_1=56296430;refseq.start_2=56296430;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr12 56296894 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1810A>C;refseq.codingCoordStr_2=c.1693A>C;refseq.codonCoord_1=604;refseq.codonCoord_2=565;refseq.end_1=56296894;refseq.end_2=56296894;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1847;refseq.mrnaCoord_2=2153;refseq.name2_1=GEFT;refseq.name2_2=GEFT;refseq.name_1=NM_001111270;refseq.name_2=NM_182947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T604P;refseq.proteinCoordStr_2=p.T565P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=56296894;refseq.start_2=56296894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr12 56296899 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1815T>C;refseq.codingCoordStr_2=c.1698T>C;refseq.codonCoord_1=605;refseq.codonCoord_2=566;refseq.end_1=56296899;refseq.end_2=56296899;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1852;refseq.mrnaCoord_2=2158;refseq.name2_1=GEFT;refseq.name2_2=GEFT;refseq.name_1=NM_001111270;refseq.name_2=NM_182947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P605P;refseq.proteinCoordStr_2=p.P566P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=56296899;refseq.start_2=56296899;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 56301761 . G A 169.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.90;MQ0=0;OQ=572.89;QD=19.10;RankSumP=0.716671;SB=-98.58;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.577G>A;refseq.codonCoord=193;refseq.end=56301761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_133489;refseq.name2=SLC26A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A193T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=22;refseq.start=56301761;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr12 56301863 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.76373e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.679C>A;refseq.codonCoord=227;refseq.end=56301863;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_133489;refseq.name2=SLC26A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P227T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-30;refseq.start=56301863;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr12 56303940 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1108C>G;refseq.codonCoord=370;refseq.end=56303940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1419;refseq.name=NM_133489;refseq.name2=SLC26A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P370A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-24;refseq.start=56303940;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr12 56305739 . T G 198.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=99.00;MQ0=0;OQ=1801.63;QD=35.33;RankSumP=1.00000;SB=-430.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1636T>G;refseq.codonCoord=546;refseq.end=56305739;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1947;refseq.name=NM_133489;refseq.name2=SLC26A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L546V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=108;refseq.start=56305739;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr12 56398456 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=98.61;MQ0=0;OQ=1236.15;QD=11.77;RankSumP=0.186201;SB=-436.26;SecondBestBaseQ=32;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.1395A>G;refseq.codingCoordStr_4=c.1395A>G;refseq.codonCoord_3=465;refseq.codonCoord_4=465;refseq.end_1=56399032;refseq.end_2=56399032;refseq.end_3=56398456;refseq.end_4=56398456;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1602;refseq.mrnaCoord_4=1602;refseq.name2_1=OS9;refseq.name2_2=OS9;refseq.name2_3=OS9;refseq.name2_4=OS9;refseq.name_1=NM_001017957;refseq.name_2=NM_001017958;refseq.name_3=NM_001017956;refseq.name_4=NM_006812;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E465E;refseq.proteinCoordStr_4=p.E465E;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.start_1=56398437;refseq.start_2=56398437;refseq.start_3=56398456;refseq.start_4=56398456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 0/1 chr12 56412490 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=3.32733e-09;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1757C>A;refseq.codingCoordStr_2=c.749C>A;refseq.codonCoord_1=586;refseq.codonCoord_2=250;refseq.end_1=56412490;refseq.end_2=56412490;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1757;refseq.mrnaCoord_2=835;refseq.name2_1=AGAP2;refseq.name2_2=AGAP2;refseq.name_1=NM_001122772;refseq.name_2=NM_014770;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P586Q;refseq.proteinCoordStr_2=p.P250Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=56412490;refseq.start_2=56412490;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT 0/1 chr12 56412501 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=15.60;MQ=95.79;MQ0=0;OQ=426.55;QD=8.89;RankSumP=0.439124;SB=-33.37;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1746G>T;refseq.codingCoordStr_2=c.738G>T;refseq.codonCoord_1=582;refseq.codonCoord_2=246;refseq.end_1=56412501;refseq.end_2=56412501;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1746;refseq.mrnaCoord_2=824;refseq.name2_1=AGAP2;refseq.name2_2=AGAP2;refseq.name_1=NM_001122772;refseq.name_2=NM_014770;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L582L;refseq.proteinCoordStr_2=p.L246L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=56412501;refseq.start_2=56412501;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr12 56425826 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.95C>G;refseq.codonCoord=32;refseq.end=56425826;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_005981;refseq.name2=TSPAN31;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=32;refseq.start=56425826;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 56460573 . T C 176.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.69;MQ0=0;OQ=1716.20;QD=13.20;RankSumP=0.390630;SB=-760.19;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.558T>C;refseq.codingCoordStr_2=c.*247T>C;refseq.codonCoord_1=186;refseq.end_1=56460573;refseq.end_2=56460573;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=822;refseq.name2_1=FAM119B;refseq.name2_2=FAM119B;refseq.name_1=NM_015433;refseq.name_2=NM_206914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.H186H;refseq.referenceAA_1=His;refseq.referenceCodon_1=CAT;refseq.spliceDist_1=269;refseq.spliceDist_2=269;refseq.start_1=56460573;refseq.start_2=56460573;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantCodon_1=CAC;set=Intersection GT 1/0 chr12 56489692 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.894A>G;refseq.codonCoord=298;refseq.end=56489692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_006576;refseq.name2=AVIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K298K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-46;refseq.start=56489692;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr12 56490550 . T C 305.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.59;MQ0=0;OQ=14123.05;QD=40.82;RankSumP=1.00000;SB=-5423.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.610A>G;refseq.codonCoord=204;refseq.end=56490550;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_006576;refseq.name2=AVIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K204E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=52;refseq.start=56490550;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr12 56621893 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=14.95;MQ=97.86;MQ0=0;OQ=1840.61;QD=13.15;RankSumP=0.0689245;SB=-338.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.142A>T;refseq.codonCoord=48;refseq.end=56621893;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_033276;refseq.name2=XRCC6BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S48C;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-46;refseq.start=56621893;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr12 56636898 . C T 276.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=4550.24;QD=20.68;RankSumP=0.413036;SB=-1482.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.699C>T;refseq.codonCoord=233;refseq.end=56636898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_033276;refseq.name2=XRCC6BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H233H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=162;refseq.start=56636898;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr12 58459623 . A T 158.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=9.00;MQ=99.00;MQ0=0;OQ=792.12;QD=14.40;RankSumP=0.171948;SB=-311.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1333A>T;refseq.codonCoord=445;refseq.end=58459623;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1489;refseq.name=NM_004731;refseq.name2=SLC16A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T445S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=153;refseq.start=58459623;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr12 60982866 . C T 203.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.87;MQ0=0;OQ=17211.43;QD=42.92;RankSumP=1.00000;SB=-8558.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.246C>T;refseq.codonCoord=82;refseq.end=60982866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_006313;refseq.name2=USP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.H82H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=29;refseq.start=60982866;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr12 61064332 . A G 418.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.16;MQ0=0;OQ=4625.58;QD=37.61;RankSumP=1.00000;SB=-1016.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1368A>G;refseq.codonCoord=456;refseq.end=61064332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_006313;refseq.name2=USP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P456P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-19;refseq.start=61064332;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr12 61265483 . G A 314.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.82;MQ0=0;OQ=2967.74;QD=18.90;RankSumP=0.273814;SB=-1089.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4842G>A;refseq.codonCoord=1614;refseq.end=61265483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5233;refseq.name=NM_015026;refseq.name2=MON2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1614R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-66;refseq.start=61265483;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr12 61830476 . A G 127.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=97.51;MQ0=0;OQ=644.85;QD=13.16;RankSumP=0.738465;SB=-312.40;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.408T>C;refseq.codonCoord=136;refseq.end=61830476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2382;refseq.name=NM_000706;refseq.name2=AVPR1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F136F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-563;refseq.start=61830476;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr12 62240571 . T C 280.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=73.82;MQ0=16;OQ=13797.92;QD=40.34;RankSumP=1.00000;SB=-6432.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2265A>G;refseq.codonCoord=755;refseq.end=62240571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2446;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L755L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=139;refseq.start=62240571;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr12 62250866 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.484883;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1939A>G;refseq.codonCoord=647;refseq.end=62250866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2120;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I647V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=39;refseq.start=62250866;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap GT 1/0 chr12 62250867 . G A 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0659345;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1938C>T;refseq.codonCoord=646;refseq.end=62250867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2119;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S646S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=38;refseq.start=62250867;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 1/0 chr12 62348290 . A C 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.24;MQ0=0;OQ=414.90;QD=12.97;RankSumP=0.0534272;SB=-200.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.151T>G;refseq.codonCoord=51;refseq.end=62348290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S51A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-187;refseq.start=62348290;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 62348319 . G A 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.47;MQ0=0;OQ=288.99;QD=9.32;RankSumP=0.642903;SB=-168.64;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.122C>T;refseq.codonCoord=41;refseq.end=62348319;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-216;refseq.start=62348319;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr12 62348332 . T C 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=97.17;MQ0=0;OQ=238.14;QD=7.00;RankSumP=0.651776;SB=-140.73;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.109A>G;refseq.codonCoord=37;refseq.end=62348332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_173812;refseq.name2=DPY19L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M37V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-229;refseq.start=62348332;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 62759070 . A T 305.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.29;MQ0=0;OQ=12637.18;QD=40.50;RankSumP=1.00000;SB=-5398.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1230A>T;refseq.codonCoord=410;refseq.end=62759070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1286;refseq.name=NM_020762;refseq.name2=SRGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S410S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-94;refseq.start=62759070;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr12 62777286 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=16;RankSumP=0.000724321;SecondBestBaseQ=16;refseq.chr=chr12;refseq.codingCoordStr=c.1679-2;refseq.end=62777286;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020762;refseq.name2=SRGAP1;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=62777286;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr12 62822462 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=291;Dels=0.00;HRun=4;HaplotypeScore=14.92;MQ=98.26;MQ0=0;OQ=271.23;QD=0.93;RankSumP=0.00000;SB=522.66;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3001A>C;refseq.codonCoord=1001;refseq.end=62822462;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3057;refseq.name=NM_020762;refseq.name2=SRGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1001P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=121;refseq.start=62822462;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 62873900 . C A 447.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.65;MQ0=0;OQ=4381.09;QD=38.43;RankSumP=1.00000;SB=-1438.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1327G>T;refseq.codonCoord=443;refseq.end=62873900;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_152440;refseq.name2=C12orf66;refseq.positionType=CDS;refseq.proteinCoordStr=p.A443S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=806;refseq.start=62873900;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr12 62895829 . C T 401.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=99.00;MQ0=0;OQ=3332.84;QD=41.15;RankSumP=1.00000;SB=-1344.66;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.417G>A;refseq.codonCoord=139;refseq.end=62895829;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_152440;refseq.name2=C12orf66;refseq.positionType=CDS;refseq.proteinCoordStr=p.M139I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-105;refseq.start=62895829;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr12 63162054 . T A 398.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=4295.47;QD=37.68;RankSumP=1.00000;SB=-1336.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.978T>A;refseq.codonCoord=326;refseq.end=63162054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_013254;refseq.name2=TBK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I326I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-15;refseq.start=63162054;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr12 63432799 . C T 163.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=97.86;MQ0=0;OQ=1208.65;QD=18.04;RankSumP=0.692337;SB=-503.50;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.198G>A;refseq.codonCoord=66;refseq.end=63432799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_002076;refseq.name2=GNS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P66P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=63432799;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr12 63735228 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.955A>C;refseq.codonCoord=319;refseq.end=63735228;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_007191;refseq.name2=WIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T319P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=33;refseq.start=63735228;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 63800533 . T C 241.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.74;MQ0=0;OQ=2242.37;QD=15.90;RankSumP=0.151953;SB=-665.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.219A>G;refseq.codonCoord=73;refseq.end=63800533;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_007191;refseq.name2=WIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A73A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-70;refseq.start=63800533;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr12 64891495 . A G 435.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.30;MQ0=0;OQ=6911.96;QD=42.40;RankSumP=1.00000;SB=-2792.45;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.256A>G;refseq.codingCoordStr_2=c.439A>G;refseq.codonCoord_1=86;refseq.codonCoord_2=147;refseq.end_1=64891495;refseq.end_2=64891495;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=541;refseq.name2_1=IRAK3;refseq.name2_2=IRAK3;refseq.name_1=NM_001142523;refseq.name_2=NM_007199;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I86V;refseq.proteinCoordStr_2=p.I147V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=64891495;refseq.start_2=64891495;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr12 64982677 . C T 223.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.85;MQ0=0;OQ=1959.74;QD=15.19;RankSumP=0.203638;SB=-895.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.27C>T;refseq.codonCoord=9;refseq.end=64982677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=55;refseq.name=NM_033647;refseq.name2=HELB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R9R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=64982677;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr12 64985162 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=205;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4154.30;QD=20.26;RankSumP=0.177203;SB=-1576.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.572T>C;refseq.codonCoord=191;refseq.end=64985162;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=600;refseq.name=NM_033647;refseq.name2=HELB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L191P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-36;refseq.start=64985162;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 65011427 . C T 202.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.86;MQ0=0;OQ=1196.60;QD=17.86;RankSumP=0.0753234;SB=-269.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2897C>T;refseq.codonCoord=966;refseq.end=65011427;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2925;refseq.name=NM_033647;refseq.name2=HELB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P966L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=227;refseq.start=65011427;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 65011469 . C T 238.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.92;MQ0=0;OQ=1745.47;QD=15.45;RankSumP=0.487378;SB=-699.32;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2939C>T;refseq.codonCoord=980;refseq.end=65011469;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2967;refseq.name=NM_033647;refseq.name2=HELB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T980I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-224;refseq.start=65011469;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr12 65018131 . C A 210.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1605.50;QD=20.07;RankSumP=0.165825;SB=-574.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3246C>A;refseq.codonCoord=1082;refseq.end=65018131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3274;refseq.name=NM_033647;refseq.name2=HELB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1082T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=84;refseq.start=65018131;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr12 65072358 . G C 99.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.75;MQ0=0;OQ=8073.46;QD=46.94;RankSumP=1.00000;SB=-2236.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2305C>G;refseq.codonCoord=769;refseq.end=65072358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2546;refseq.name=NM_021150;refseq.name2=GRIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q769E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=65072358;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr12 65987480 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2966T>G;refseq.codonCoord=989;refseq.end=65987480;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3403;refseq.name=NM_018448;refseq.name2=CAND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V989G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=37;refseq.start=65987480;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 65992733 . G A 361.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=98.85;MQ0=0;OQ=4916.59;QD=19.67;RankSumP=0.283418;SB=-1589.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3549G>A;refseq.codonCoord=1183;refseq.end=65992733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3986;refseq.name=NM_018448;refseq.name2=CAND1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1183L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=81;refseq.start=65992733;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr12 66338445 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.86;MQ0=0;OQ=2102.20;QD=9.96;RankSumP=0.00491513;SB=-303.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1272G>T;refseq.codingCoordStr_2=c.1491G>T;refseq.codonCoord_1=424;refseq.codonCoord_2=497;refseq.end_1=66338445;refseq.end_2=66338445;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1744;refseq.mrnaCoord_2=1893;refseq.name2_1=DYRK2;refseq.name2_2=DYRK2;refseq.name_1=NM_003583;refseq.name_2=NM_006482;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G424G;refseq.proteinCoordStr_2=p.G497G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=1293;refseq.spliceDist_2=1293;refseq.start_1=66338445;refseq.start_2=66338445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 0/1 chr12 66993554 . G A 288.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.78;MQ0=0;OQ=5703.13;QD=22.28;RankSumP=0.466142;SB=-2340.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1655C>T;refseq.codonCoord=552;refseq.end=66993554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1791;refseq.name=NM_017440;refseq.name2=MDM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P552L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=46;refseq.start=66993554;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr12 66995028 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1172;Dels=0.00;HRun=0;HaplotypeScore=26.16;MQ=98.78;MQ0=0;OQ=23883.21;QD=20.38;RankSumP=0.419085;SB=-8203.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1466G>A;refseq.codonCoord=489;refseq.end=66995028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1602;refseq.name=NM_017440;refseq.name2=MDM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R489H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-34;refseq.start=66995028;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr12 66995304 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1190C>A;refseq.codonCoord=397;refseq.end=66995304;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1326;refseq.name=NM_017440;refseq.name2=MDM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T397K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=66995304;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr12 67006894 . G A 126.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=9.09;MQ=98.96;MQ0=0;OQ=4871.53;QD=19.56;RankSumP=0.441576;SB=-935.85;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.308C>T;refseq.codingCoordStr_2=c.308C>T;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.end_1=67006894;refseq.end_2=67006894;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=444;refseq.mrnaCoord_2=444;refseq.name2_1=MDM1;refseq.name2_2=MDM1;refseq.name_1=NM_017440;refseq.name_2=NM_020128;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T103I;refseq.proteinCoordStr_2=p.T103I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.start_1=67006894;refseq.start_2=67006894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr12 67011218 . G T 170.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=586;Dels=0.00;HRun=0;HaplotypeScore=14.83;MQ=98.87;MQ0=0;OQ=10179.49;QD=17.37;RankSumP=0.309765;SB=-4002.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.69C>A;refseq.codingCoordStr_2=c.69C>A;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=67011218;refseq.end_2=67011218;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=205;refseq.mrnaCoord_2=205;refseq.name2_1=MDM1;refseq.name2_2=MDM1;refseq.name_1=NM_017440;refseq.name_2=NM_020128;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S23S;refseq.proteinCoordStr_2=p.S23S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=67011218;refseq.start_2=67011218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr12 67369072 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=3;HaplotypeScore=5.20;MQ=98.75;MQ0=0;OQ=7276.45;QD=19.77;RankSumP=0.275285;SB=-2306.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.72G>A;refseq.codonCoord=24;refseq.end=67369072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_020401;refseq.name2=NUP107;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-29;refseq.start=67369072;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr12 67380833 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.613A>C;refseq.codonCoord=205;refseq.end=67380833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_020401;refseq.name2=NUP107;refseq.positionType=CDS;refseq.proteinCoordStr=p.T205P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=61;refseq.start=67380833;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr12 67401965 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=6337.83;QD=22.55;RankSumP=0.240624;SB=-2603.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1389G>A;refseq.codonCoord=463;refseq.end=67401965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1504;refseq.name=NM_020401;refseq.name2=NUP107;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q463Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-69;refseq.start=67401965;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr12 67547046 . C T 199.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.99;MQ0=0;OQ=7031.42;QD=21.64;RankSumP=0.410301;SB=-2696.52;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.837G>A;refseq.codingCoordStr_2=c.837G>A;refseq.codingCoordStr_3=c.837G>A;refseq.codonCoord_1=279;refseq.codonCoord_2=279;refseq.codonCoord_3=279;refseq.end_1=67547046;refseq.end_2=67547046;refseq.end_3=67547046;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=912;refseq.mrnaCoord_3=898;refseq.name2_1=CPM;refseq.name2_2=CPM;refseq.name2_3=CPM;refseq.name_1=NM_001005502;refseq.name_2=NM_001874;refseq.name_3=NM_198320;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T279T;refseq.proteinCoordStr_2=p.T279T;refseq.proteinCoordStr_3=p.T279T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=67547046;refseq.start_2=67547046;refseq.start_3=67547046;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr12 68254129 . G A 240.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=2535.55;QD=42.26;RankSumP=1.00000;SB=-659.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.654G>A;refseq.codingCoordStr_2=c.654G>A;refseq.codonCoord_1=218;refseq.codonCoord_2=218;refseq.end_1=68254129;refseq.end_2=68254129;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1157;refseq.mrnaCoord_2=1164;refseq.name2_1=FRS2;refseq.name2_2=FRS2;refseq.name_1=NM_001042555;refseq.name_2=NM_006654;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A218A;refseq.proteinCoordStr_2=p.A218A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=68254129;refseq.start_2=68254129;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr12 68335823 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1138T>G;refseq.codingCoordStr_2=c.499T>G;refseq.codonCoord_1=380;refseq.codonCoord_2=167;refseq.end_1=68335823;refseq.end_2=68335823;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1365;refseq.mrnaCoord_2=711;refseq.name2_1=BEST3;refseq.name2_2=BEST3;refseq.name_1=NM_032735;refseq.name_2=NM_152439;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W380G;refseq.proteinCoordStr_2=p.W167G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=68335823;refseq.start_2=68335823;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 68377699 . T C 394.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.61;MQ0=0;OQ=7050.93;QD=41.48;RankSumP=1.00000;SB=-3443.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.147A>G;refseq.codonCoord=49;refseq.end=68377699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=374;refseq.name=NM_032735;refseq.name2=BEST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V49V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=68377699;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr12 69425931 . T C 305.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.90;MQ0=0;OQ=2968.52;QD=19.28;RankSumP=0.444598;SB=-1040.39;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.941A>G;refseq.codingCoordStr_2=c.206A>G;refseq.codonCoord_1=314;refseq.codonCoord_2=69;refseq.end_1=69425931;refseq.end_2=69425931;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1355;refseq.mrnaCoord_2=598;refseq.name2_1=PTPRR;refseq.name2_2=PTPRR;refseq.name_1=NM_002849;refseq.name_2=NM_130846;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K314R;refseq.proteinCoordStr_2=p.K69R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=69425931;refseq.start_2=69425931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr12 69837717 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=69837717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_004616;refseq.name2=TSPAN8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-52;refseq.start=69837717;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 70246475 . G A 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=12.99;MQ=98.63;MQ0=0;OQ=8707.02;QD=44.20;RankSumP=1.00000;SB=-3015.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.882G>A;refseq.codonCoord=294;refseq.end=70246475;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_003667;refseq.name2=LGR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q294Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=25;refseq.start=70246475;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr12 70300099 . A G 152.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=98.93;MQ0=0;OQ=1402.89;QD=17.76;RankSumP=0.338229;SB=-569.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4923T>C;refseq.codonCoord=1641;refseq.end=70300099;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5282;refseq.name=NM_144982;refseq.name2=ZFC3H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1641A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=73;refseq.start=70300099;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 70450650 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=244;Dels=0.00;HRun=2;HaplotypeScore=34.37;MQ=98.69;MQ0=0;OQ=132.05;QD=0.54;RankSumP=0.00000;SB=263.88;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.231T>G;refseq.codonCoord=77;refseq.end=70450650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_014999;refseq.name2=RAB21;refseq.positionType=CDS;refseq.proteinCoordStr=p.G77G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=12;refseq.start=70450650;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 70659129 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=17.63;MQ=98.57;MQ0=0;OQ=4657.81;QD=14.20;RankSumP=0.498946;SB=-1481.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.936A>G;refseq.codonCoord=312;refseq.end=70659129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_173353;refseq.name2=TPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P312P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=70659129;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr12 70702502 . A T 122.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=418;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=98.90;MQ0=0;OQ=8417.43;QD=20.14;RankSumP=0.166784;SB=-2991.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1125A>T;refseq.codonCoord=375;refseq.end=70702502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_173353;refseq.name2=TPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A375A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-40;refseq.start=70702502;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr12 73887710 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=91.89;MQ0=1;OQ=712.56;QD=14.54;RankSumP=0.514904;SB=-35.63;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.321C>T;refseq.codingCoordStr_2=c.321C>T;refseq.codingCoordStr_3=c.321C>T;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.codonCoord_3=107;refseq.end_1=73887710;refseq.end_2=73887710;refseq.end_3=73887710;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=865;refseq.mrnaCoord_2=865;refseq.mrnaCoord_3=865;refseq.name2_1=KCNC2;refseq.name2_2=KCNC2;refseq.name2_3=KCNC2;refseq.name_1=NM_139136;refseq.name_2=NM_139137;refseq.name_3=NM_153748;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H107H;refseq.proteinCoordStr_2=p.H107H;refseq.proteinCoordStr_3=p.H107H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=340;refseq.spliceDist_2=340;refseq.spliceDist_3=340;refseq.start_1=73887710;refseq.start_2=73887710;refseq.start_3=73887710;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr12 74014827 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.52G>T;refseq.codonCoord=18;refseq.end=74014827;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_152779;refseq.name2=GLIPR1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V18L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=98;refseq.start=74014827;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr12 74170521 . C T 173.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.57;MQ0=0;OQ=3019.43;QD=17.25;RankSumP=0.453104;SB=-1096.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.489C>T;refseq.codonCoord=163;refseq.end=74170521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_006851;refseq.name2=GLIPR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D163D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-45;refseq.start=74170521;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr12 74186649 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=5.55;MQ=97.97;MQ0=0;OQ=716.96;QD=12.15;RankSumP=0.214162;SB=-261.73;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.401G>A;refseq.codonCoord=134;refseq.end=74186649;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_007043;refseq.name2=KRR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R134Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=74186649;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr12 74186855 . A G 363.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.92;MQ0=0;OQ=5598.20;QD=19.64;RankSumP=0.486416;SB=-2237.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.367T>C;refseq.codonCoord=123;refseq.end=74186855;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_007043;refseq.name2=KRR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L123L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-27;refseq.start=74186855;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr12 74711204 . T C 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.221515;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.585A>G;refseq.codonCoord=195;refseq.end=74711204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=620;refseq.name=NM_007350;refseq.name2=PHLDA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q195Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=620;refseq.start=74711204;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr12 74711207 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.221515;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.582G>A;refseq.codonCoord=194;refseq.end=74711207;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_007350;refseq.name2=PHLDA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q194Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=617;refseq.start=74711207;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr12 74736167 . T C 234.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.95;MQ0=0;OQ=1605.20;QD=37.33;RankSumP=1.00000;SB=-456.57;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.471A>G;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=74736167;refseq.end_2=74736167;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=883;refseq.mrnaCoord_2=883;refseq.name2_1=NAP1L1;refseq.name2_2=NAP1L1;refseq.name_1=NM_004537;refseq.name_2=NM_139207;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K157K;refseq.proteinCoordStr_2=p.K157K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=74736167;refseq.start_2=74736167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr12 74740233 . G A 222.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=90.81;MQ0=8;OQ=11439.19;QD=40.42;RankSumP=1.00000;SB=-3962.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.300C>T;refseq.codingCoordStr_2=c.300C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=74740233;refseq.end_2=74740233;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=712;refseq.mrnaCoord_2=712;refseq.name2_1=NAP1L1;refseq.name2_2=NAP1L1;refseq.name_1=NM_004537;refseq.name_2=NM_139207;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H100H;refseq.proteinCoordStr_2=p.H100H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=74740233;refseq.start_2=74740233;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr12 75941926 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=1.72536e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2736A>C;refseq.codonCoord=912;refseq.end=75941926;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2972;refseq.name=NM_203394;refseq.name2=E2F7;refseq.positionType=CDS;refseq.proteinCoordStr=p.*912Y;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=171;refseq.start=75941926;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr12 75947758 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=474;Dels=0.00;HRun=1;HaplotypeScore=7.57;MQ=98.73;MQ0=0;OQ=9860.39;QD=20.80;RankSumP=0.0724079;SB=-4143.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1868C>T;refseq.codonCoord=623;refseq.end=75947758;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2104;refseq.name=NM_203394;refseq.name2=E2F7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S623L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-17;refseq.start=75947758;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr12 75973921 . A G 310.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=98.62;MQ0=0;OQ=15371.94;QD=40.88;RankSumP=1.00000;SB=-5376.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.214T>C;refseq.codonCoord=72;refseq.end=75973921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_203394;refseq.name2=E2F7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F72L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=121;refseq.start=75973921;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr12 76749505 . A G 233.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=11376.22;QD=42.45;RankSumP=1.00000;SB=-5461.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.133A>G;refseq.codonCoord=45;refseq.end=76749505;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_014903;refseq.name2=NAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T45A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-111;refseq.start=76749505;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 76858325 . A G 240.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=98.82;MQ0=0;OQ=4835.41;QD=16.56;RankSumP=0.379513;SB=-1705.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.339A>G;refseq.codonCoord=113;refseq.end=76858325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_014903;refseq.name2=NAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L113L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-23;refseq.start=76858325;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 77055110 . G A 154.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=8.98;MQ=99.00;MQ0=0;OQ=4594.28;QD=20.24;RankSumP=0.150064;SB=-1201.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4464G>A;refseq.codonCoord=1488;refseq.end=77055110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4637;refseq.name=NM_014903;refseq.name2=NAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1488Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=23;refseq.start=77055110;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr12 77066830 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.61;MQ0=0;OQ=1382.25;QD=12.80;RankSumP=0.237099;SB=-206.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4785T>C;refseq.codonCoord=1595;refseq.end=77066830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4958;refseq.name=NM_014903;refseq.name2=NAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1595N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=77066830;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr12 77123022 . G A 298.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.62;MQ0=0;OQ=4919.85;QD=20.85;RankSumP=0.276906;SB=-1945.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6945G>A;refseq.codonCoord=2315;refseq.end=77123022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7118;refseq.name=NM_014903;refseq.name2=NAV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2315P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-28;refseq.start=77123022;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 78539038 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=629;Dels=0.00;HRun=0;HaplotypeScore=29.17;MQ=98.66;MQ0=0;OQ=11560.85;QD=18.38;RankSumP=0.0142680;SB=-4476.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.597T>A;refseq.codonCoord=199;refseq.end=78539038;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_002583;refseq.name2=PAWR;refseq.positionType=CDS;refseq.proteinCoordStr=p.I199I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-52;refseq.start=78539038;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr12 79853667 . A C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6340.82;QD=41.44;RankSumP=1.00000;SB=-2248.32;SecondBestBaseQ=0;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.end_1=79855540;refseq.end_2=79853667;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=77;refseq.name2_1=LIN7A;refseq.name2_2=MIR618;refseq.name_1=NM_004664;refseq.name_2=NR_030349;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-21;refseq.start_1=79807290;refseq.start_2=79853667;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr12 80117275 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1275A>G;refseq.codonCoord=425;refseq.end=80117275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_024560;refseq.name2=ACSS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G425G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=25;refseq.start=80117275;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 80134833 . G A 224.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.97;MQ0=0;OQ=4189.85;QD=19.67;RankSumP=0.271059;SB=-1065.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1377G>A;refseq.codonCoord=459;refseq.end=80134833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1468;refseq.name=NM_024560;refseq.name2=ACSS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A459A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=23;refseq.start=80134833;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr12 81274975 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.359A>C;refseq.codonCoord_2=120;refseq.end_1=81274975;refseq.end_2=81274975;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=332;refseq.mrnaCoord_2=403;refseq.name2_1=CCDC59;refseq.name2_2=CCDC59;refseq.name_1=NR_033192;refseq.name_2=NM_014167;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H120P;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=81274975;refseq.start_2=81274975;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 81307799 . C T 125.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=3.85;MQ=98.85;MQ0=0;OQ=18674.22;QD=42.83;RankSumP=1.00000;SB=-7251.48;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.498C>T;refseq.codonCoord=166;refseq.end=81307799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_032230;refseq.name2=C12orf26;refseq.positionType=CDS;refseq.proteinCoordStr=p.I166I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-34;refseq.start=81307799;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr12 81316918 . C A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=3764.99;QD=38.42;RankSumP=1.00000;SB=-1848.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.745C>A;refseq.codonCoord=249;refseq.end=81316918;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_032230;refseq.name2=C12orf26;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q249K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=214;refseq.start=81316918;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr12 81775251 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=7.16182e-07;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.415C>G;refseq.codonCoord=139;refseq.end=81775251;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_152588;refseq.name2=TMTC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R139G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-240;refseq.start=81775251;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr12 83956171 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=1;HaplotypeScore=15.13;MQ=98.89;MQ0=0;OQ=6224.22;QD=18.92;RankSumP=0.341769;SB=-1723.11;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.86T>A;refseq.codingCoordStr_2=c.86T>A;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.end_1=83956171;refseq.end_2=83956171;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=197;refseq.mrnaCoord_2=197;refseq.name2_1=LRRIQ1;refseq.name2_2=LRRIQ1;refseq.name_1=NM_001079910;refseq.name_2=NM_032165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I29N;refseq.proteinCoordStr_2=p.I29N;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=83956171;refseq.start_2=83956171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr12 83962630 . G A 423.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5489.66;QD=41.91;RankSumP=1.00000;SB=-1681.65;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.248G>A;refseq.codingCoordStr_2=c.248G>A;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=83962630;refseq.end_2=83962630;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=359;refseq.name2_1=LRRIQ1;refseq.name2_2=LRRIQ1;refseq.name_1=NM_001079910;refseq.name_2=NM_032165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C83Y;refseq.proteinCoordStr_2=p.C83Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=83962630;refseq.start_2=83962630;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr12 83973596 . T A 427.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3188.97;QD=39.86;RankSumP=1.00000;SB=-1525.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.894T>A;refseq.codingCoordStr_2=c.894T>A;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.end_1=83973596;refseq.end_2=83973596;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1005;refseq.mrnaCoord_2=1005;refseq.name2_1=LRRIQ1;refseq.name2_2=LRRIQ1;refseq.name_1=NM_001079910;refseq.name_2=NM_032165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V298V;refseq.proteinCoordStr_2=p.V298V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.start_1=83973596;refseq.start_2=83973596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr12 83990854 . G A 408.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.75;MQ0=0;OQ=5050.56;QD=41.40;RankSumP=1.00000;SB=-1047.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2734G>A;refseq.codingCoordStr_2=c.2734G>A;refseq.codonCoord_1=912;refseq.codonCoord_2=912;refseq.end_1=83990854;refseq.end_2=83990854;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2845;refseq.mrnaCoord_2=2845;refseq.name2_1=LRRIQ1;refseq.name2_2=LRRIQ1;refseq.name_1=NM_001079910;refseq.name_2=NM_032165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A912T;refseq.proteinCoordStr_2=p.A912T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=83990854;refseq.start_2=83990854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr12 84042235 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.3814T>C;refseq.codingCoordStr_2=c.3814T>C;refseq.codonCoord_1=1272;refseq.codonCoord_2=1272;refseq.end_1=84042235;refseq.end_2=84042235;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3925;refseq.mrnaCoord_2=3925;refseq.name2_1=LRRIQ1;refseq.name2_2=LRRIQ1;refseq.name_1=NM_001079910;refseq.name_2=NM_032165;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1272P;refseq.proteinCoordStr_2=p.S1272P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-194;refseq.spliceDist_2=257;refseq.start_1=84042235;refseq.start_2=84042235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 84162786 . A T 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.224667;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5105A>T;refseq.codonCoord=1702;refseq.end=84162786;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5216;refseq.name=NM_001079910;refseq.name2=LRRIQ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1702I;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=89;refseq.start=84162786;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 0/1 chr12 86964807 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=593;Dels=0.00;HRun=1;HaplotypeScore=6.41;MQ=98.84;MQ0=0;OQ=14599.44;QD=24.62;RankSumP=0.129976;SB=-5830.58;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.712G>C;refseq.codonCoord=238;refseq.end=86964807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_001009894;refseq.name2=C12orf29;refseq.positionType=CDS;refseq.proteinCoordStr=p.V238L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-78;refseq.start=86964807;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 87071408 . T C 388.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.86;MQ0=0;OQ=8783.09;QD=42.64;RankSumP=1.00000;SB=-2093.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.399T>C;refseq.codonCoord=133;refseq.end=87071408;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_181783;refseq.name2=TMTC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H133H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=87071408;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr12 87078061 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.548T>G;refseq.codonCoord=183;refseq.end=87078061;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_181783;refseq.name2=TMTC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V183G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=40;refseq.start=87078061;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 87078062 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.549T>G;refseq.codonCoord=183;refseq.end=87078062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_181783;refseq.name2=TMTC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V183V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=41;refseq.start=87078062;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr12 88267354 . G A 292.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4243.60;QD=42.02;RankSumP=1.00000;SB=-1102.93;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.954C>T;refseq.codingCoordStr_2=c.516C>T;refseq.codonCoord_1=318;refseq.codonCoord_2=172;refseq.end_1=88267354;refseq.end_2=88267354;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1434;refseq.mrnaCoord_2=996;refseq.name2_1=DUSP6;refseq.name2_2=DUSP6;refseq.name_1=NM_001946;refseq.name_2=NM_022652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D318D;refseq.proteinCoordStr_2=p.D172D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.start_1=88267354;refseq.start_2=88267354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr12 88269608 . C A 57.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1130.62;QD=31.41;RankSumP=1.00000;SB=-540.41;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.340G>T;refseq.codingCoordStr_2=c.340G>T;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=88269608;refseq.end_2=88269608;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=820;refseq.name2_1=DUSP6;refseq.name2_2=DUSP6;refseq.name_1=NM_001946;refseq.name_2=NM_022652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V114L;refseq.proteinCoordStr_2=p.V114L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=88269608;refseq.start_2=88269608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr12 88553032 . T C 173.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=15.10;MQ=98.74;MQ0=0;OQ=10705.20;QD=21.28;RankSumP=0.349857;SB=-4305.33;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.534A>G;refseq.codingCoordStr_2=c.534A>G;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.end_1=88553032;refseq.end_2=88553032;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=715;refseq.mrnaCoord_2=715;refseq.name2_1=ATP2B1;refseq.name2_2=ATP2B1;refseq.name_1=NM_001001323;refseq.name_2=NM_001682;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E178E;refseq.proteinCoordStr_2=p.E178E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=128;refseq.spliceDist_2=128;refseq.start_1=88553032;refseq.start_2=88553032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr12 89973557 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.633A>C;refseq.codonCoord=211;refseq.end=89973557;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_007035;refseq.name2=KERA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-254;refseq.start=89973557;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr12 89974115 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=9.36;MQ=98.78;MQ0=0;OQ=6049.24;QD=21.00;RankSumP=0.406356;SB=-2367.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.75G>A;refseq.codonCoord=25;refseq.end=89974115;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_007035;refseq.name2=KERA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q25Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=83;refseq.start=89974115;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr12 89974121 . C T 179.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=10.29;MQ=98.77;MQ0=0;OQ=5615.12;QD=19.63;RankSumP=0.451723;SB=-1983.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.69G>A;refseq.codonCoord=23;refseq.end=89974121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_007035;refseq.name2=KERA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=77;refseq.start=89974121;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr12 91342626 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_4=c.39A>C;refseq.codonCoord_4=13;refseq.end_1=91343274;refseq.end_2=91346930;refseq.end_3=91345991;refseq.end_4=91342626;refseq.frame_4=2;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=761;refseq.name2_1=CLLU1;refseq.name2_2=CLLU1;refseq.name2_3=CLLU1OS;refseq.name2_4=CLLU1;refseq.name_1=NR_027932;refseq.name_2=NR_027933;refseq.name_3=NM_001025232;refseq.name_4=NM_001025233;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R13S;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=AGA;refseq.spliceDist_4=761;refseq.start_1=91339753;refseq.start_2=91339753;refseq.start_3=91340554;refseq.start_4=91342626;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ser;refseq.variantCodon_4=AGC;set=FilteredInAll GT 0/1 chr12 91342917 . A G 222.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=1509.55;QD=18.41;RankSumP=0.410782;SB=-538.95;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_4=c.330A>G;refseq.codonCoord_4=110;refseq.end_1=91343274;refseq.end_2=91346930;refseq.end_3=91345991;refseq.end_4=91342917;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1052;refseq.name2_1=CLLU1;refseq.name2_2=CLLU1;refseq.name2_3=CLLU1OS;refseq.name2_4=CLLU1;refseq.name_1=NR_027932;refseq.name_2=NR_027933;refseq.name_3=NM_001025232;refseq.name_4=NM_001025233;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.K110K;refseq.referenceAA_4=Lys;refseq.referenceCodon_4=AAA;refseq.spliceDist_4=-925;refseq.start_1=91339753;refseq.start_2=91339753;refseq.start_3=91340554;refseq.start_4=91342917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Lys;refseq.variantCodon_4=AAG;set=Intersection GT 0/1 chr12 91679666 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=97.11;MQ0=0;OQ=1085.38;QD=14.28;RankSumP=0.305596;SB=-235.65;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=91679666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_001004330;refseq.name2=PLEKHG7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T236T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=91679666;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr12 91720553 . T G 252.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1388.47;QD=18.27;RankSumP=0.308949;SB=-646.59;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2428A>C;refseq.codonCoord=810;refseq.end=91720553;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2693;refseq.name=NM_003566;refseq.name2=EEA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K810Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=89;refseq.start=91720553;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr12 91782796 . A G 348.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=4.87;MQ=98.79;MQ0=0;OQ=6468.46;QD=18.75;RankSumP=0.182494;SB=-2296.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.216T>C;refseq.codonCoord=72;refseq.end=91782796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_003566;refseq.name2=EEA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H72H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-30;refseq.start=91782796;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr12 93067637 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.95;MQ0=0;OQ=302.69;QD=4.73;RankSumP=0.00293166;SB=-151.09;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=93067637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_005761;refseq.name2=PLXNC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y253Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-304;refseq.start=93067637;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=filterInsoap-gatk GT 0/1 chr12 93183103 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3568T>G;refseq.codonCoord=1190;refseq.end=93183103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3817;refseq.name=NM_005761;refseq.name2=PLXNC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1190V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-30;refseq.start=93183103;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr12 93496421 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=708.57;QD=16.87;RankSumP=0.683917;SB=-195.68;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1011G>A;refseq.codonCoord=337;refseq.end=93496421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1129;refseq.name=NM_020698;refseq.name2=TMCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E337E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=16;refseq.start=93496421;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr12 93499930 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=2;HaplotypeScore=12.82;MQ=98.58;MQ0=0;OQ=6799.22;QD=17.89;RankSumP=0.0559698;SB=-2184.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.594C>T;refseq.codonCoord=198;refseq.end=93499930;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_020698;refseq.name2=TMCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F198F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-402;refseq.start=93499930;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr12 93500215 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=330;Dels=0.00;HRun=1;HaplotypeScore=15.15;MQ=98.80;MQ0=0;OQ=5650.91;QD=17.12;RankSumP=0.124839;SB=-1444.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.309A>G;refseq.codonCoord=103;refseq.end=93500215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_020698;refseq.name2=TMCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A103A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=231;refseq.start=93500215;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr12 93500290 . T C 114.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=569;Dels=0.00;HRun=0;HaplotypeScore=12.10;MQ=98.86;MQ0=0;OQ=11464.68;QD=20.15;RankSumP=0.187382;SB=-4871.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=93500290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_020698;refseq.name2=TMCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=156;refseq.start=93500290;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 94430734 . C A 335.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.68;MQ0=0;OQ=4544.46;QD=19.67;RankSumP=0.495656;SB=-1345.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1095C>A;refseq.codonCoord=365;refseq.end=94430734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1229;refseq.name=NM_006838;refseq.name2=METAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T365T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=27;refseq.start=94430734;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr12 94451893 . T C 361.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.49;MQ0=0;OQ=8164.69;QD=38.51;RankSumP=1.00000;SB=-3453.38;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.271A>G;refseq.codingCoordStr_2=c.271A>G;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=94451893;refseq.end_2=94451893;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=415;refseq.mrnaCoord_2=557;refseq.name2_1=USP44;refseq.name2_2=USP44;refseq.name_1=NM_001042403;refseq.name_2=NM_032147;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T91A;refseq.proteinCoordStr_2=p.T91A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=341;refseq.spliceDist_2=341;refseq.start_1=94451893;refseq.start_2=94451893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr12 94785017 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.64;MQ0=0;OQ=2510.30;QD=17.55;RankSumP=0.123909;SB=-631.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1660A>G;refseq.codonCoord=554;refseq.end=94785017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1894;refseq.name=NM_182496;refseq.name2=CCDC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.K554E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-60;refseq.start=94785017;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr12 94785078 . A G 212 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.89;MQ0=0;OQ=3010.50;QD=15.60;RankSumP=0.279079;SB=-982.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1599T>C;refseq.codonCoord=533;refseq.end=94785078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1833;refseq.name=NM_182496;refseq.name2=CCDC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.F533F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=21;refseq.start=94785078;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr12 94808781 . A G 103.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=98.73;MQ0=0;OQ=2754.02;QD=14.57;RankSumP=0.0194367;SB=-1284.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.831T>C;refseq.codonCoord=277;refseq.end=94808781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_182496;refseq.name2=CCDC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A277A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-41;refseq.start=94808781;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 94898745 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=444;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=98.88;MQ0=0;OQ=9964.31;QD=22.44;RankSumP=0.155951;SB=-3730.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1315G>A;refseq.codonCoord=439;refseq.end=94898745;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_002108;refseq.name2=HAL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V439I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=28;refseq.start=94898745;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr12 94908315 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.842C>G;refseq.codonCoord=281;refseq.end=94908315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_002108;refseq.name2=HAL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A281G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-14;refseq.start=94908315;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr12 95165431 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.790G>C;refseq.codonCoord=264;refseq.end=95165431;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_005230;refseq.name2=ELK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-213;refseq.start=95165431;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 95622680 . T C 176.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.23;MQ0=0;OQ=2369.69;QD=41.57;RankSumP=1.00000;SB=-800.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1778T>C;refseq.codonCoord=593;refseq.end=95622680;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_198520;refseq.name2=C12orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.L593P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-26;refseq.start=95622680;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr12 95626709 . G A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.66;MQ0=0;OQ=1988.57;QD=39.77;RankSumP=1.00000;SB=-689.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1996G>A;refseq.codonCoord=666;refseq.end=95626709;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2074;refseq.name=NM_198520;refseq.name2=C12orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.E666K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=95626709;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr12 95660370 . G A 252.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=99.00;MQ0=0;OQ=4081.32;QD=43.89;RankSumP=1.00000;SB=-1484.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2369G>A;refseq.codonCoord=790;refseq.end=95660370;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2447;refseq.name=NM_198520;refseq.name2=C12orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.S790N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=23;refseq.start=95660370;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr12 97451961 . C G 224.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.82;MQ0=0;OQ=2174.45;QD=22.19;RankSumP=0.188370;SB=-959.87;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.1795C>G;refseq.codonCoord_3=599;refseq.end_1=97455373;refseq.end_2=97455373;refseq.end_3=97451961;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1999;refseq.name2_1=TMPO;refseq.name2_2=TMPO;refseq.name2_3=TMPO;refseq.name_1=NM_001032283;refseq.name_2=NM_001032284;refseq.name_3=NM_003276;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Q599E;refseq.referenceAA_3=Gln;refseq.referenceCodon_3=CAA;refseq.spliceDist_3=-492;refseq.start_1=97449758;refseq.start_2=97449758;refseq.start_3=97451961;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAA;set=Intersection GT 1/0 chr12 98566171 . C G 107.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=2;HaplotypeScore=3.13;MQ=97.32;MQ0=0;OQ=6294.47;QD=22.89;RankSumP=0.463235;SB=-2129.09;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.88C>G;refseq.codonCoord_2=30;refseq.end_1=98572965;refseq.end_2=98566171;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=506;refseq.name2_1=ANKS1B;refseq.name2_2=FAM71C;refseq.name_1=NM_152788;refseq.name_2=NM_153364;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R30G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=506;refseq.start_1=98422561;refseq.start_2=98566171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr12 98566294 . A G 324.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=98.83;MQ0=0;OQ=7685.98;QD=18.34;RankSumP=0.196469;SB=-2965.23;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.211A>G;refseq.codonCoord_2=71;refseq.end_1=98572965;refseq.end_2=98566294;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=629;refseq.name2_1=ANKS1B;refseq.name2_2=FAM71C;refseq.name_1=NM_152788;refseq.name_2=NM_153364;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M71V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-405;refseq.start_1=98422561;refseq.start_2=98566294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr12 99232498 . C T 148.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.50;MQ0=0;OQ=2216.18;QD=16.30;RankSumP=0.411566;SB=-1128.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1070C>T;refseq.codonCoord=357;refseq.end=99232498;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_017988;refseq.name2=SCYL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P357L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-26;refseq.start=99232498;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr12 99428712 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.105T>G;refseq.codonCoord=35;refseq.end=99428712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=453;refseq.name=NM_005123;refseq.name2=NR1H4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G35G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=26;refseq.start=99428712;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 100076206 . G A 291.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.67;MQ0=0;OQ=6886.73;QD=19.40;RankSumP=0.436508;SB=-2844.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1662C>T;refseq.codonCoord=554;refseq.end=100076206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2052;refseq.name=NM_145913;refseq.name2=SLC5A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y554Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=32;refseq.start=100076206;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr12 100084459 . C A 250.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=3.57;MQ=98.84;MQ0=0;OQ=4160.07;QD=16.38;RankSumP=0.389791;SB=-1598.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1470G>T;refseq.codonCoord=490;refseq.end=100084459;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1860;refseq.name=NM_145913;refseq.name2=SLC5A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.M490I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-57;refseq.start=100084459;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr12 100111649 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=511;Dels=0.00;HRun=2;HaplotypeScore=16.98;MQ=98.77;MQ0=0;OQ=10687.81;QD=20.92;RankSumP=0.458321;SB=-4169.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.577G>A;refseq.codonCoord=193;refseq.end=100111649;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_145913;refseq.name2=SLC5A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V193I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=40;refseq.start=100111649;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr12 100208060 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.66;MQ0=0;OQ=919.23;QD=13.52;RankSumP=0.172789;SB=-215.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.612C>T;refseq.codonCoord=204;refseq.end=100208060;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_014503;refseq.name2=UTP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.N204N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=15;refseq.start=100208060;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 100256786 . C T 169.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.89;MQ0=0;OQ=2276.45;QD=16.26;RankSumP=0.0563460;SB=-1135.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3933C>T;refseq.codonCoord=1311;refseq.end=100256786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4089;refseq.name=NM_014503;refseq.name2=UTP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1311S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=65;refseq.start=100256786;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr12 100274945 . T A 355.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=1.96;MQ=98.87;MQ0=0;OQ=7006.54;QD=40.04;RankSumP=1.00000;SB=-2814.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5645T>A;refseq.codonCoord=1882;refseq.end=100274945;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5801;refseq.name=NM_014503;refseq.name2=UTP20;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1882Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-47;refseq.start=100274945;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr12 100588249 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=2;HaplotypeScore=8.34;MQ=98.84;MQ0=0;OQ=11610.86;QD=41.92;RankSumP=1.00000;SB=-4956.58;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.2544T>C;refseq.codingCoordStr_2=c.2544T>C;refseq.codingCoordStr_3=c.2523T>C;refseq.codingCoordStr_4=c.2469T>C;refseq.codonCoord_1=848;refseq.codonCoord_2=848;refseq.codonCoord_3=841;refseq.codonCoord_4=823;refseq.end_1=100588249;refseq.end_2=100588249;refseq.end_3=100588249;refseq.end_4=100588249;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2646;refseq.mrnaCoord_2=2646;refseq.mrnaCoord_3=2625;refseq.mrnaCoord_4=2571;refseq.name2_1=MYBPC1;refseq.name2_2=MYBPC1;refseq.name2_3=MYBPC1;refseq.name2_4=MYBPC1;refseq.name_1=NM_002465;refseq.name_2=NM_206819;refseq.name_3=NM_206820;refseq.name_4=NM_206821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I848I;refseq.proteinCoordStr_2=p.I848I;refseq.proteinCoordStr_3=p.I841I;refseq.proteinCoordStr_4=p.I823I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.start_1=100588249;refseq.start_2=100588249;refseq.start_3=100588249;refseq.start_4=100588249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/1 chr12 100593208 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=2;HaplotypeScore=4.65;MQ=98.65;MQ0=0;OQ=2199.42;QD=13.75;RankSumP=0.352055;SB=-793.16;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.2817A>G;refseq.codingCoordStr_2=c.2817A>G;refseq.codingCoordStr_3=c.2796A>G;refseq.codingCoordStr_4=c.2742A>G;refseq.codonCoord_1=939;refseq.codonCoord_2=939;refseq.codonCoord_3=932;refseq.codonCoord_4=914;refseq.end_1=100593208;refseq.end_2=100593208;refseq.end_3=100593208;refseq.end_4=100593208;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2919;refseq.mrnaCoord_2=2919;refseq.mrnaCoord_3=2898;refseq.mrnaCoord_4=2844;refseq.name2_1=MYBPC1;refseq.name2_2=MYBPC1;refseq.name2_3=MYBPC1;refseq.name2_4=MYBPC1;refseq.name_1=NM_002465;refseq.name_2=NM_206819;refseq.name_3=NM_206820;refseq.name_4=NM_206821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P939P;refseq.proteinCoordStr_2=p.P939P;refseq.proteinCoordStr_3=p.P932P;refseq.proteinCoordStr_4=p.P914P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceDist_4=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.spliceInfo_4=splice-acceptor_8;refseq.start_1=100593208;refseq.start_2=100593208;refseq.start_3=100593208;refseq.start_4=100593208;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 0/1 chr12 100632432 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=5.26;MQ=98.48;MQ0=0;OQ=2354.61;QD=20.30;RankSumP=8.44689e-05;SB=-682.12;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.441T>C;refseq.codonCoord=147;refseq.end=100632432;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_020244;refseq.name2=CHPT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A147A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=20;refseq.start=100632432;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/0 chr12 100641720 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=3;HaplotypeScore=6.97;MQ=97.89;MQ0=0;OQ=987.52;QD=12.19;RankSumP=0.297511;SB=-354.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1029C>T;refseq.codonCoord=343;refseq.end=100641720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_020244;refseq.name2=CHPT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N343N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-37;refseq.start=100641720;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 100682894 . T C 242.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=98.66;MQ0=0;OQ=5075.32;QD=17.93;RankSumP=0.493556;SB=-1167.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1932A>G;refseq.codonCoord=644;refseq.end=100682894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2111;refseq.name=NM_024312;refseq.name2=GNPTAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T644T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=320;refseq.start=100682894;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr12 100748551 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.34A>C;refseq.codonCoord=12;refseq.end=100748551;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_024312;refseq.name2=GNPTAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T12P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-84;refseq.start=100748551;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 100748567 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=13.96;MQ=97.18;MQ0=0;OQ=1236.82;QD=9.66;RankSumP=0.385564;SB=-126.12;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.18G>A;refseq.codonCoord=6;refseq.end=100748567;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_024312;refseq.name2=GNPTAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L6L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-100;refseq.start=100748567;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr12 101018979 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1493.28;QD=24.09;RankSumP=0.675991;SB=-626.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.315A>G;refseq.codonCoord=105;refseq.end=101018979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_024057;refseq.name2=NUP37;refseq.positionType=CDS;refseq.proteinCoordStr=p.R105R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=34;refseq.start=101018979;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr12 101758382 . T C 196.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=421;Dels=0.00;HRun=0;HaplotypeScore=13.26;MQ=98.62;MQ0=0;OQ=7026.66;QD=16.69;RankSumP=0.370672;SB=-2479.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1241A>G;refseq.codonCoord=414;refseq.end=101758382;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1714;refseq.name=NM_000277;refseq.name2=PAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y414C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=42;refseq.start=101758382;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr12 101761598 . G C 196.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=98.93;MQ0=0;OQ=10423.96;QD=47.60;RankSumP=1.00000;SB=-4407.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1155C>G;refseq.codonCoord=385;refseq.end=101761598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1628;refseq.name=NM_000277;refseq.name2=PAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L385L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-45;refseq.start=101761598;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr12 101770830 . C T 351.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=4573.34;QD=41.20;RankSumP=1.00000;SB=-521.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.735G>A;refseq.codonCoord=245;refseq.end=101770830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1208;refseq.name=NM_000277;refseq.name2=PAH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V245V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=101770830;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr12 102555068 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.633G>C;refseq.codonCoord=211;refseq.end=102555068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=819;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S211S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=50;refseq.start=102555068;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr12 102570607 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=232;Dels=0.00;HRun=0;HaplotypeScore=8.76;MQ=98.92;MQ0=0;OQ=2673.37;QD=11.52;RankSumP=0.320104;SB=-1012.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1401C>T;refseq.codonCoord=467;refseq.end=102570607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1587;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S467S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=102570607;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr12 102586587 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.56467e-05;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2122T>G;refseq.codonCoord=708;refseq.end=102586587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2308;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F708V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=37;refseq.start=102586587;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr12 102610761 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=31.12;MQ=98.00;MQ0=0;OQ=2703.91;QD=7.81;RankSumP=0.102602;SB=-554.48;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3339C>T;refseq.codonCoord=1113;refseq.end=102610761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3525;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1113N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-37;refseq.start=102610761;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap-filterIngatk GT 0/1 chr12 102624747 . C T 246.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=13.17;MQ=98.83;MQ0=0;OQ=4081.48;QD=15.88;RankSumP=0.245810;SB=-1187.62;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4044C>T;refseq.codonCoord=1348;refseq.end=102624747;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4230;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1348C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=48;refseq.start=102624747;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr12 102648041 . C T 288.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.94;MQ0=0;OQ=6665.71;QD=16.02;RankSumP=0.438253;SB=-2301.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.5100C>T;refseq.codonCoord=1700;refseq.end=102648041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5286;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1700N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=18;refseq.start=102648041;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 102648148 . A C 193.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=1;HaplotypeScore=8.95;MQ=98.93;MQ0=0;OQ=5834.96;QD=19.07;RankSumP=0.429088;SB=-2388.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.5207A>C;refseq.codonCoord=1736;refseq.end=102648148;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5393;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1736T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-17;refseq.start=102648148;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr12 102677134 . C G 125.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=318;Dels=0.00;HRun=2;HaplotypeScore=8.08;MQ=98.76;MQ0=0;OQ=5774.66;QD=18.16;RankSumP=0.103922;SB=-1297.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.7201C>G;refseq.codonCoord=2401;refseq.end=102677134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7387;refseq.name=NM_017564;refseq.name2=STAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2401V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-48;refseq.start=102677134;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr12 102695872 . C T 251.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=7.24;MQ=98.75;MQ0=0;OQ=3925.35;QD=16.99;RankSumP=0.207341;SB=-1608.29;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1512G>A;refseq.codonCoord=504;refseq.end=102695872;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1553;refseq.name=NM_001031701;refseq.name2=NT5DC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L504L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=118;refseq.start=102695872;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr12 102711076 . G T 321.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=10.89;MQ=98.75;MQ0=0;OQ=11259.68;QD=20.32;RankSumP=0.494917;SB=-1531.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1015C>A;refseq.codonCoord=339;refseq.end=102711076;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1056;refseq.name=NM_001031701;refseq.name2=NT5DC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R339R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=102711076;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr12 102849466 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.87T>G;refseq.codonCoord=29;refseq.end=102849466;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_003299;refseq.name2=HSP90B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G29G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=38;refseq.start=102849466;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 102861700 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1945G>C;refseq.codonCoord=649;refseq.end=102861700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2050;refseq.name=NM_003299;refseq.name2=HSP90B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A649P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=55;refseq.start=102861700;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 103674936 . C A 77 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=2;RankSumP=0.00642306;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.269C>A;refseq.codingCoordStr_2=c.284C>A;refseq.codonCoord_1=90;refseq.codonCoord_2=95;refseq.end_1=103674936;refseq.end_2=103674936;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=767;refseq.mrnaCoord_2=782;refseq.name2_1=CHST11;refseq.name2_2=CHST11;refseq.name_1=NM_001173982;refseq.name_2=NM_018413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T90K;refseq.proteinCoordStr_2=p.T95K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=103674936;refseq.start_2=103674936;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr12 103675452 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.785A>C;refseq.codingCoordStr_2=c.800A>C;refseq.codonCoord_1=262;refseq.codonCoord_2=267;refseq.end_1=103675452;refseq.end_2=103675452;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1283;refseq.mrnaCoord_2=1298;refseq.name2_1=CHST11;refseq.name2_2=CHST11;refseq.name_1=NM_001173982;refseq.name_2=NM_018413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H262P;refseq.proteinCoordStr_2=p.H267P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=596;refseq.spliceDist_2=596;refseq.start_1=103675452;refseq.start_2=103675452;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT 0/1 chr12 103675453 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.786T>C;refseq.codingCoordStr_2=c.801T>C;refseq.codonCoord_1=262;refseq.codonCoord_2=267;refseq.end_1=103675453;refseq.end_2=103675453;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1284;refseq.mrnaCoord_2=1299;refseq.name2_1=CHST11;refseq.name2_2=CHST11;refseq.name_1=NM_001173982;refseq.name_2=NM_018413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H262H;refseq.proteinCoordStr_2=p.H267H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=597;refseq.spliceDist_2=597;refseq.start_1=103675453;refseq.start_2=103675453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr12 103904282 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.68;MQ0=0;OQ=1092.80;QD=14.57;RankSumP=0.491990;SB=-498.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.22A>C;refseq.codonCoord=8;refseq.end=103904282;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=55;refseq.name=NM_152318;refseq.name2=C12orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.K8Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=55;refseq.start=103904282;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr12 103944493 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.2676A>C;refseq.codonCoord_2=892;refseq.end_1=103944493;refseq.end_2=103944493;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2755;refseq.mrnaCoord_2=2803;refseq.name2_1=ALDH1L2;refseq.name2_2=ALDH1L2;refseq.name_1=NR_027752;refseq.name_2=NM_001034173;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P892P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=103944493;refseq.start_2=103944493;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr12 103957653 . T A 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=501;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=98.82;MQ0=0;OQ=20611.35;QD=41.14;RankSumP=1.00000;SB=-8002.10;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.2013A>T;refseq.codonCoord_2=671;refseq.end_1=103957653;refseq.end_2=103957653;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2136;refseq.mrnaCoord_2=2140;refseq.name2_1=ALDH1L2;refseq.name2_2=ALDH1L2;refseq.name_1=NR_027752;refseq.name_2=NM_001034173;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G671G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=103957653;refseq.start_2=103957653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr12 103958597 . C T 246 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=2401.87;QD=40.03;RankSumP=1.00000;SB=-357.98;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_2=c.1869G>A;refseq.codonCoord_2=623;refseq.end_1=103958597;refseq.end_2=103958597;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1992;refseq.mrnaCoord_2=1996;refseq.name2_1=ALDH1L2;refseq.name2_2=ALDH1L2;refseq.name_1=NR_027752;refseq.name_2=NM_001034173;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T623T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=103958597;refseq.start_2=103958597;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr12 104070302 . G A 189.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=320;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.65;MQ0=0;OQ=14020.59;QD=43.81;RankSumP=1.00000;SB=-5523.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2701G>A;refseq.codonCoord=901;refseq.end=104070302;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2788;refseq.name=NM_015275;refseq.name2=KIAA1033;refseq.positionType=CDS;refseq.proteinCoordStr=p.V901I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=52;refseq.start=104070302;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr12 104092252 . G A 334.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=5798.53;QD=42.64;RankSumP=1.00000;SB=-593.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1965C>T;refseq.codonCoord=655;refseq.end=104092252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2183;refseq.name=NM_018171;refseq.name2=APPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N655N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=105;refseq.start=104092252;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr12 104092306 . G A 291.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.76;MQ0=0;OQ=14836.52;QD=42.51;RankSumP=1.00000;SB=-5380.32;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1911C>T;refseq.codonCoord=637;refseq.end=104092306;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2129;refseq.name=NM_018171;refseq.name2=APPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D637D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=51;refseq.start=104092306;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr12 104108005 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1300A>C;refseq.codonCoord=434;refseq.end=104108005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1518;refseq.name=NM_018171;refseq.name2=APPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T434P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=59;refseq.start=104108005;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr12 104108007 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=68.17;MQ=98.51;MQ0=0;OQ=2730.12;QD=8.95;RankSumP=0.121248;SB=-369.70;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1298C>T;refseq.codonCoord=433;refseq.end=104108007;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1516;refseq.name=NM_018171;refseq.name2=APPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A433V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=57;refseq.start=104108007;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap-filterIngatk GT 1/0 chr12 104125065 . G A 247.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=11.67;MQ=98.67;MQ0=0;OQ=2897.34;QD=16.19;RankSumP=0.180301;SB=-871.98;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=104125065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_018171;refseq.name2=APPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H175H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=51;refseq.start=104125065;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 105157699 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=10.24;MQ=97.08;MQ0=0;OQ=798.18;QD=14.25;RankSumP=0.441242;SB=-336.01;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1042G>A;refseq.codonCoord=348;refseq.end=105157699;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_006825;refseq.name2=CKAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A348T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=559;refseq.start=105157699;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr12 105158017 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.724A>G;refseq.codonCoord=242;refseq.end=105158017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_006825;refseq.name2=CKAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T242A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=241;refseq.start=105158017;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr12 105229104 . G A 407.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.78;MQ0=0;OQ=7897.33;QD=39.69;RankSumP=1.00000;SB=-3304.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.121G>A;refseq.codonCoord=41;refseq.end=105229104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_152772;refseq.name2=TCP11L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-37;refseq.start=105229104;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 105287593 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.230+2;refseq.codingCoordStr_2=c.404+2;refseq.end_1=105287593;refseq.end_2=105287593;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=POLR3B;refseq.name2_2=POLR3B;refseq.name_1=NM_001160708;refseq.name_2=NM_018082;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=105287593;refseq.start_2=105287593;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr12 105614331 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=469;Dels=0.00;HRun=1;HaplotypeScore=14.74;MQ=98.61;MQ0=0;OQ=8825.24;QD=18.82;RankSumP=0.229807;SB=-3496.74;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_2=c.837T>C;refseq.codingCoordStr_3=c.528T>C;refseq.codingCoordStr_4=c.810T>C;refseq.codonCoord_2=279;refseq.codonCoord_3=176;refseq.codonCoord_4=270;refseq.end_1=105768475;refseq.end_2=105614331;refseq.end_3=105614331;refseq.end_4=105614331;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=942;refseq.mrnaCoord_3=634;refseq.mrnaCoord_4=876;refseq.name2_1=MIR548H2;refseq.name2_2=RFX4;refseq.name2_3=RFX4;refseq.name2_4=RFX4;refseq.name_1=NR_031678;refseq.name_2=NM_002920;refseq.name_3=NM_032491;refseq.name_4=NM_213594;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T279T;refseq.proteinCoordStr_3=p.T176T;refseq.proteinCoordStr_4=p.T270T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.spliceDist_4=-24;refseq.start_1=105541297;refseq.start_2=105614331;refseq.start_3=105614331;refseq.start_4=105614331;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/0 chr12 105889224 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.276A>G;refseq.codonCoord=92;refseq.end=105889224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_152261;refseq.name2=C12orf23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=212;refseq.start=105889224;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 105896407 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=8.98;MQ=99.00;MQ0=0;OQ=1813.47;QD=17.11;RankSumP=0.429094;SB=-545.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.216G>A;refseq.codingCoordStr_2=c.216G>A;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=105896407;refseq.end_2=105896407;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=567;refseq.mrnaCoord_2=557;refseq.name2_1=MTERFD3;refseq.name2_2=MTERFD3;refseq.name_1=NM_001033050;refseq.name_2=NM_025198;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E72E;refseq.proteinCoordStr_2=p.E72E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=273;refseq.spliceDist_2=273;refseq.start_1=105896407;refseq.start_2=105896407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr12 105919236 . A G 292.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=98.63;MQ0=0;OQ=13126.55;QD=39.18;RankSumP=1.00000;SB=-6105.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.636T>C;refseq.codonCoord=212;refseq.end=105919236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1495;refseq.name=NM_004075;refseq.name2=CRY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G212G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=41;refseq.start=105919236;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr12 106536183 . G C 30 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=81;Dels=0.00;HRun=2;HaplotypeScore=9.13;MQ=97.16;MQ0=0;OQ=73.21;QD=0.90;RankSumP=1.42021e-05;SB=77.28;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.961G>C;refseq.codingCoordStr_2=c.2350G>C;refseq.codonCoord_1=321;refseq.codonCoord_2=784;refseq.end_1=106536183;refseq.end_2=106536183;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=2871;refseq.name2_1=BTBD11;refseq.name2_2=BTBD11;refseq.name_1=NM_001017523;refseq.name_2=NM_001018072;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A321P;refseq.proteinCoordStr_2=p.A784P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=106536183;refseq.start_2=106536183;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr12 106560033 . T C 337.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.79;MQ0=0;OQ=8788.60;QD=38.05;RankSumP=1.00000;SB=-3840.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1488T>C;refseq.codingCoordStr_2=c.2877T>C;refseq.codonCoord_1=496;refseq.codonCoord_2=959;refseq.end_1=106560033;refseq.end_2=106560033;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1538;refseq.mrnaCoord_2=3398;refseq.name2_1=BTBD11;refseq.name2_2=BTBD11;refseq.name_1=NM_001017523;refseq.name_2=NM_001018072;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D496D;refseq.proteinCoordStr_2=p.D959D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=106560033;refseq.start_2=106560033;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr12 106575536 . G A 286.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=15.75;MQ=98.91;MQ0=0;OQ=6490.97;QD=18.76;RankSumP=0.333098;SB=-2015.25;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1837G>A;refseq.codingCoordStr_2=c.3226G>A;refseq.codonCoord_1=613;refseq.codonCoord_2=1076;refseq.end_1=106575536;refseq.end_2=106575536;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1887;refseq.mrnaCoord_2=3747;refseq.name2_1=BTBD11;refseq.name2_2=BTBD11;refseq.name_1=NM_001017523;refseq.name_2=NM_001018072;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G613S;refseq.proteinCoordStr_2=p.G1076S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.start_1=106575536;refseq.start_2=106575536;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr12 106659087 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1690A>C;refseq.codonCoord=564;refseq.end=106659087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2127;refseq.name=NM_012406;refseq.name2=PRDM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T564P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=81;refseq.start=106659087;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 107209830 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.1040A>C;refseq.codingCoordStr_2=c.1040A>C;refseq.codingCoordStr_3=c.1040A>C;refseq.codingCoordStr_4=c.1034A>C;refseq.codonCoord_1=347;refseq.codonCoord_2=347;refseq.codonCoord_3=347;refseq.codonCoord_4=345;refseq.end_1=107209830;refseq.end_2=107209830;refseq.end_3=107209830;refseq.end_4=107209830;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1617;refseq.mrnaCoord_2=1404;refseq.mrnaCoord_3=1231;refseq.mrnaCoord_4=1541;refseq.name2_1=CMKLR1;refseq.name2_2=CMKLR1;refseq.name2_3=CMKLR1;refseq.name2_4=CMKLR1;refseq.name_1=NM_001142343;refseq.name_2=NM_001142344;refseq.name_3=NM_001142345;refseq.name_4=NM_004072;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y347S;refseq.proteinCoordStr_2=p.Y347S;refseq.proteinCoordStr_3=p.Y347S;refseq.proteinCoordStr_4=p.Y345S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=1037;refseq.spliceDist_2=1037;refseq.spliceDist_3=1037;refseq.spliceDist_4=1037;refseq.start_1=107209830;refseq.start_2=107209830;refseq.start_3=107209830;refseq.start_4=107209830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 1/0 chr12 107210138 . C G 278.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=7.64;MQ=98.11;MQ0=0;OQ=8878.25;QD=42.28;RankSumP=1.00000;SB=-4103.16;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_1=c.732G>C;refseq.codingCoordStr_2=c.732G>C;refseq.codingCoordStr_3=c.732G>C;refseq.codingCoordStr_4=c.726G>C;refseq.codonCoord_1=244;refseq.codonCoord_2=244;refseq.codonCoord_3=244;refseq.codonCoord_4=242;refseq.end_1=107210138;refseq.end_2=107210138;refseq.end_3=107210138;refseq.end_4=107210138;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1309;refseq.mrnaCoord_2=1096;refseq.mrnaCoord_3=923;refseq.mrnaCoord_4=1233;refseq.name2_1=CMKLR1;refseq.name2_2=CMKLR1;refseq.name2_3=CMKLR1;refseq.name2_4=CMKLR1;refseq.name_1=NM_001142343;refseq.name_2=NM_001142344;refseq.name_3=NM_001142345;refseq.name_4=NM_004072;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V244V;refseq.proteinCoordStr_2=p.V244V;refseq.proteinCoordStr_3=p.V244V;refseq.proteinCoordStr_4=p.V242V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=729;refseq.spliceDist_2=729;refseq.spliceDist_3=729;refseq.spliceDist_4=729;refseq.start_1=107210138;refseq.start_2=107210138;refseq.start_3=107210138;refseq.start_4=107210138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 1/1 chr12 107442276 . C T 303.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.51;MQ0=0;OQ=2312.44;QD=16.88;RankSumP=0.391407;SB=-890.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2661G>A;refseq.codonCoord=887;refseq.end=107442276;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2896;refseq.name=NM_014706;refseq.name2=SART3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P887P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-54;refseq.start=107442276;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr12 107448080 . A G 221.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=562;Dels=0.00;HRun=0;HaplotypeScore=8.05;MQ=98.59;MQ0=0;OQ=10068.39;QD=17.92;RankSumP=0.457348;SB=-3734.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1884T>C;refseq.codonCoord=628;refseq.end=107448080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2119;refseq.name=NM_014706;refseq.name2=SART3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D628D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-32;refseq.start=107448080;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr12 107478953 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=236;Dels=0.00;HRun=2;HaplotypeScore=16.51;MQ=98.74;MQ0=0;OQ=2828.22;QD=11.98;RankSumP=0.351625;SB=-718.07;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.108G>A;refseq.codonCoord=36;refseq.end=107478953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=343;refseq.name=NM_014706;refseq.name2=SART3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R36R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-205;refseq.start=107478953;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr12 107510074 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=98.82;MQ0=0;OQ=2038.94;QD=12.28;RankSumP=0.0603950;SB=-315.45;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.215T>C;refseq.codonCoord=72;refseq.end=107510074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_181724;refseq.name2=TMEM119;refseq.positionType=CDS;refseq.proteinCoordStr=p.I72T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=229;refseq.start=107510074;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr12 107510160 . C T 18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=7;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=164.41;QD=23.49;RankSumP=0.333333;SB=-48.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.129G>A;refseq.codonCoord=43;refseq.end=107510160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_181724;refseq.name2=TMEM119;refseq.positionType=CDS;refseq.proteinCoordStr=p.E43E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=143;refseq.start=107510160;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 0/1 chr12 107995639 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=10016.83;QD=40.55;RankSumP=1.00000;SB=-2693.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.639T>C;refseq.codonCoord=213;refseq.end=107995639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_032663;refseq.name2=USP30;refseq.positionType=CDS;refseq.proteinCoordStr=p.P213P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=14;refseq.start=107995639;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr12 108102111 . A G 343.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=7.81;MQ=98.50;MQ0=0;OQ=5075.30;QD=17.03;RankSumP=0.240820;SB=-1698.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1654A>G;refseq.codonCoord=552;refseq.end=108102111;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1663;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I552V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=108102111;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr12 108102248 . T C 391.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.48;MQ0=0;OQ=4673.25;QD=36.80;RankSumP=1.00000;SB=-2328.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1791T>C;refseq.codonCoord=597;refseq.end=108102248;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D597D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-28;refseq.start=108102248;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr12 108113840 . C T 104.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=572;Dels=0.00;HRun=0;HaplotypeScore=23.26;MQ=98.77;MQ0=0;OQ=11220.90;QD=19.62;RankSumP=3.90879e-06;SB=-3696.60;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2184C>T;refseq.codonCoord=728;refseq.end=108113840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2193;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G728G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=40;refseq.start=108113840;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr12 108128999 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.25;MQ0=0;OQ=1661.51;QD=11.08;RankSumP=0.0330929;SB=-772.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3015C>T;refseq.codonCoord=1005;refseq.end=108128999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3024;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1005N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-46;refseq.start=108128999;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr12 108159412 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=690;Dels=0.00;HRun=0;HaplotypeScore=22.18;MQ=98.63;MQ0=0;OQ=23727.65;QD=34.39;RankSumP=1.00000;SB=-9703.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4506T>C;refseq.codonCoord=1502;refseq.end=108159412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4515;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1502L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=60;refseq.start=108159412;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr12 108175332 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.6031T>G;refseq.codonCoord=2011;refseq.end=108175332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6040;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2011A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-15;refseq.start=108175332;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr12 108181221 . G A 396.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.76;MQ0=0;OQ=3163.30;QD=40.56;RankSumP=1.00000;SB=-957.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.6421G>A;refseq.codonCoord=2141;refseq.end=108181221;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6430;refseq.name=NM_001093;refseq.name2=ACACB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2141I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=61;refseq.start=108181221;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 108378411 . A G 228.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=18.65;MQ=98.84;MQ0=0;OQ=7900.94;QD=19.65;RankSumP=0.284081;SB=-2716.07;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.618T>C;refseq.codonCoord=206;refseq.end=108378411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_031954;refseq.name2=KCTD10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V206V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=91;refseq.start=108378411;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr12 108421917 . G A 250.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=7.29;MQ=98.91;MQ0=0;OQ=8171.13;QD=41.69;RankSumP=1.00000;SB=-2657.30;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1037G>A;refseq.codingCoordStr_2=c.1037G>A;refseq.codonCoord_1=346;refseq.codonCoord_2=346;refseq.end_1=108421917;refseq.end_2=108421917;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1640;refseq.mrnaCoord_2=1295;refseq.name2_1=UBE3B;refseq.name2_2=UBE3B;refseq.name_1=NM_130466;refseq.name_2=NM_183415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R346Q;refseq.proteinCoordStr_2=p.R346Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=108421917;refseq.start_2=108421917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr12 108479253 . A T 345.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.81;MQ0=0;OQ=8641.09;QD=38.75;RankSumP=1.00000;SB=-3416.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.716T>A;refseq.codonCoord=239;refseq.end=108479253;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_052845;refseq.name2=MMAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M239K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=72;refseq.start=108479253;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr12 108495612 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=96.62;MQ0=0;OQ=515.69;QD=11.21;RankSumP=0.250138;SB=-222.50;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.57C>A;refseq.codonCoord=19;refseq.end=108495612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_052845;refseq.name2=MMAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R19R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-78;refseq.start=108495612;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr12 108495613 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=96.67;MQ0=0;OQ=556.48;QD=11.84;RankSumP=0.689227;SB=-215.19;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.56G>A;refseq.codonCoord=19;refseq.end=108495613;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=129;refseq.name=NM_052845;refseq.name2=MMAB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R19H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-79;refseq.start=108495613;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr12 108498262 . G A 205.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=8.95;MQ=98.85;MQ0=0;OQ=4763.29;QD=19.60;RankSumP=0.234046;SB=-1572.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.155G>A;refseq.codingCoordStr_2=c.155G>A;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.end_1=108498262;refseq.end_2=108498262;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=348;refseq.mrnaCoord_2=339;refseq.name2_1=MVK;refseq.name2_2=MVK;refseq.name_1=NM_000431;refseq.name_2=NM_001114185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S52N;refseq.proteinCoordStr_2=p.S52N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=108498262;refseq.start_2=108498262;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr12 108503721 . C T 258.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=10.88;MQ=98.22;MQ0=0;OQ=4029.90;QD=15.32;RankSumP=0.247127;SB=-1242.80;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.510C>T;refseq.codingCoordStr_2=c.510C>T;refseq.codonCoord_1=170;refseq.codonCoord_2=170;refseq.end_1=108503721;refseq.end_2=108503721;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=703;refseq.mrnaCoord_2=694;refseq.name2_1=MVK;refseq.name2_2=MVK;refseq.name_1=NM_000431;refseq.name_2=NM_001114185;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D170D;refseq.proteinCoordStr_2=p.D170D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=108503721;refseq.start_2=108503721;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr12 108825235 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.41;MQ0=0;OQ=829.83;QD=13.83;RankSumP=0.720698;SB=-292.31;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.21G>A;refseq.codingCoordStr_2=c.21G>A;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=108825235;refseq.end_2=108825235;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=174;refseq.mrnaCoord_2=235;refseq.name2_1=TCHP;refseq.name2_2=TCHP;refseq.name_1=NM_001143852;refseq.name_2=NM_032300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P7P;refseq.proteinCoordStr_2=p.P7P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=108825235;refseq.start_2=108825235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr12 108825324 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=3.51420e-08;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.110A>C;refseq.codingCoordStr_2=c.110A>C;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=108825324;refseq.end_2=108825324;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=324;refseq.name2_1=TCHP;refseq.name2_2=TCHP;refseq.name_1=NM_001143852;refseq.name_2=NM_032300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N37T;refseq.proteinCoordStr_2=p.N37T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=108825324;refseq.start_2=108825324;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr12 108826316 . A G 121.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=768.81;QD=21.97;RankSumP=0.408582;SB=-281.64;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.380A>G;refseq.codingCoordStr_2=c.380A>G;refseq.codonCoord_1=127;refseq.codonCoord_2=127;refseq.end_1=108826316;refseq.end_2=108826316;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=533;refseq.mrnaCoord_2=594;refseq.name2_1=TCHP;refseq.name2_2=TCHP;refseq.name_1=NM_001143852;refseq.name_2=NM_032300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K127R;refseq.proteinCoordStr_2=p.K127R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=108826316;refseq.start_2=108826316;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr12 108940558 . A G 302.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.92;MQ0=0;OQ=2410.09;QD=16.40;RankSumP=0.488225;SB=-1218.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.426A>G;refseq.codonCoord=142;refseq.end=108940558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_033121;refseq.name2=ANKRD13A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=26;refseq.start=108940558;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr12 109563736 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.codingCoordStr_1=c.1111A>C;refseq.codingCoordStr_2=c.1111A>C;refseq.codingCoordStr_3=c.943A>C;refseq.codingCoordStr_4=c.931A>C;refseq.codingCoordStr_5=c.1069A>C;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.codonCoord_3=315;refseq.codonCoord_4=311;refseq.codonCoord_5=357;refseq.end_1=109563736;refseq.end_2=109563736;refseq.end_3=109563736;refseq.end_4=109563736;refseq.end_5=109563736;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1267;refseq.mrnaCoord_2=1267;refseq.mrnaCoord_3=1248;refseq.mrnaCoord_4=1343;refseq.mrnaCoord_5=1225;refseq.name2_1=TCTN1;refseq.name2_2=TCTN1;refseq.name2_3=TCTN1;refseq.name2_4=TCTN1;refseq.name2_5=TCTN1;refseq.name_1=NM_001082537;refseq.name_2=NM_001082538;refseq.name_3=NM_001173975;refseq.name_4=NM_001173976;refseq.name_5=NM_024549;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T371P;refseq.proteinCoordStr_2=p.T371P;refseq.proteinCoordStr_3=p.T315P;refseq.proteinCoordStr_4=p.T311P;refseq.proteinCoordStr_5=p.T357P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceDist_5=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.spliceInfo_5=splice-acceptor_7;refseq.start_1=109563736;refseq.start_2=109563736;refseq.start_3=109563736;refseq.start_4=109563736;refseq.start_5=109563736;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr12 109644386 . G A 316.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=99.00;MQ0=0;OQ=4890.67;QD=21.26;RankSumP=0.337803;SB=-1503.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.819C>T;refseq.codonCoord=273;refseq.end=109644386;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1064;refseq.name=NM_002710;refseq.name2=PPP1CC;refseq.positionType=CDS;refseq.proteinCoordStr=p.C273C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-64;refseq.start=109644386;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr12 109826941 . G T 107.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=98.75;MQ0=0;OQ=6446.05;QD=16.92;RankSumP=0.0321892;SB=-2285.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1509G>T;refseq.codonCoord=503;refseq.end=109826941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_152591;refseq.name2=CCDC63;refseq.positionType=CDS;refseq.proteinCoordStr=p.V503V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-38;refseq.start=109826941;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr12 110242330 . C T 14.43 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.28;MQ0=0;QD=1.20;SB=-31.51;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2134C>T;refseq.codonCoord=712;refseq.end=110242330;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2288;refseq.name=NM_015267;refseq.name2=CUX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L712L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=132;refseq.start=110242330;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:11:-8.02,-3.31,-37.76:47.11 chr12 110270465 . G C 350.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.13;MQ0=0;OQ=2822.00;QD=35.72;RankSumP=1.00000;SB=-989.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4414G>C;refseq.codonCoord=1472;refseq.end=110270465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4568;refseq.name=NM_015267;refseq.name2=CUX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1472L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=755;refseq.start=110270465;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr12 110368991 . T C 237.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=98.67;MQ0=0;OQ=2446.64;QD=14.39;RankSumP=0.0110911;SB=-1064.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.784T>C;refseq.codonCoord=262;refseq.end=110368991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_005475;refseq.name2=SH2B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W262R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-51;refseq.start=110368991;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr12 110521180 rs4098854 C T 13.05 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=13.05;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.522G>A;refseq.codonCoord=174;refseq.end=110521180;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_002973;refseq.name2=ATXN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q174Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-210;refseq.start=110521180;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.57,-0.30,-0.00:1.76 chr12 110587859 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.863A>C;refseq.codonCoord=288;refseq.end=110587859;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_006768;refseq.name2=BRAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.H288P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-34;refseq.start=110587859;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 110935660 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.8C>G;refseq.codingCoordStr_2=c.8C>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=110935660;refseq.end_2=110935660;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=126;refseq.mrnaCoord_2=126;refseq.name2_1=ERP29;refseq.name2_2=ERP29;refseq.name_1=NM_001034025;refseq.name_2=NM_006817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A3G;refseq.proteinCoordStr_2=p.A3G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=126;refseq.spliceDist_2=126;refseq.start_1=110935660;refseq.start_2=110935660;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr12 111330446 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.317T>G;refseq.codingCoordStr_2=c.317T>G;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.end_1=111330446;refseq.end_2=111330446;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=546;refseq.name2_1=RPL6;refseq.name2_2=RPL6;refseq.name_1=NM_000970;refseq.name_2=NM_001024662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V106G;refseq.proteinCoordStr_2=p.V106G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=111330446;refseq.start_2=111330446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 111803983 . C T 257.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=11.97;MQ=98.81;MQ0=0;OQ=11957.34;QD=37.84;RankSumP=1.00000;SB=-4461.39;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1275C>T;refseq.codingCoordStr_2=c.1263C>T;refseq.codonCoord_1=425;refseq.codonCoord_2=421;refseq.end_1=111803983;refseq.end_2=111803983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1683;refseq.mrnaCoord_2=1671;refseq.name2_1=RPH3A;refseq.name2_2=RPH3A;refseq.name_1=NM_001143854;refseq.name_2=NM_014954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N425N;refseq.proteinCoordStr_2=p.N421N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=111803983;refseq.start_2=111803983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr12 111810012 . T C 379.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=3308.23;QD=37.17;RankSumP=1.00000;SB=-1108.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1464T>C;refseq.codingCoordStr_2=c.1452T>C;refseq.codonCoord_1=488;refseq.codonCoord_2=484;refseq.end_1=111810012;refseq.end_2=111810012;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1872;refseq.mrnaCoord_2=1860;refseq.name2_1=RPH3A;refseq.name2_2=RPH3A;refseq.name_1=NM_001143854;refseq.name_2=NM_014954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F488F;refseq.proteinCoordStr_2=p.F484F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=111810012;refseq.start_2=111810012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr12 111813171 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1755C>A;refseq.codingCoordStr_2=c.1743C>A;refseq.codonCoord_1=585;refseq.codonCoord_2=581;refseq.end_1=111813171;refseq.end_2=111813171;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2163;refseq.mrnaCoord_2=2151;refseq.name2_1=RPH3A;refseq.name2_2=RPH3A;refseq.name_1=NM_001143854;refseq.name_2=NM_014954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y585*;refseq.proteinCoordStr_2=p.Y581*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=111813171;refseq.start_2=111813171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr12 111909228 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.180T>G;refseq.codingCoordStr_2=c.180T>G;refseq.codingCoordStr_3=c.180T>G;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.codonCoord_3=60;refseq.end_1=111909228;refseq.end_2=111909228;refseq.end_3=111909228;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=320;refseq.mrnaCoord_2=320;refseq.mrnaCoord_3=320;refseq.name2_1=OAS2;refseq.name2_2=OAS2;refseq.name2_3=OAS2;refseq.name_1=NM_001032731;refseq.name_2=NM_002535;refseq.name_3=NM_016817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G60G;refseq.proteinCoordStr_2=p.G60G;refseq.proteinCoordStr_3=p.G60G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=111909228;refseq.start_2=111909228;refseq.start_3=111909228;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr12 111999712 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.000168625;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.360C>A;refseq.codonCoord=120;refseq.end=111999712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_004416;refseq.name2=DTX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A120A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=101;refseq.start=111999712;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr12 112027900 . A C 40 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=2.22138e-09;SecondBestBaseQ=19;refseq.chr=chr12;refseq.codingCoordStr=c.1827+2;refseq.end=112027900;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_004658;refseq.name2=RASAL1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=112027900;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr12 112029305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1637T>G;refseq.codonCoord=546;refseq.end=112029305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1930;refseq.name=NM_004658;refseq.name2=RASAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V546G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-21;refseq.start=112029305;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 112037864 . C T 167.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=97.91;MQ0=0;OQ=2312.66;QD=30.03;RankSumP=1.00000;SB=-1078.93;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.962G>A;refseq.codonCoord=321;refseq.end=112037864;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_004658;refseq.name2=RASAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R321H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-42;refseq.start=112037864;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr12 112092080 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1292G>C;refseq.codingCoordStr_2=c.1292G>C;refseq.codonCoord_1=431;refseq.codonCoord_2=431;refseq.end_1=112092080;refseq.end_2=112092080;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1320;refseq.mrnaCoord_2=1320;refseq.name2_1=DDX54;refseq.name2_2=DDX54;refseq.name_1=NM_001111322;refseq.name_2=NM_024072;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R431P;refseq.proteinCoordStr_2=p.R431P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=112092080;refseq.start_2=112092080;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr12 112862282 . G C 453.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.72;MQ0=0;OQ=3796.71;QD=38.35;RankSumP=1.00000;SB=-1615.85;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.1804C>G;refseq.codingCoordStr_2=c.1804C>G;refseq.codingCoordStr_3=c.1804C>G;refseq.codonCoord_1=602;refseq.codonCoord_2=602;refseq.codonCoord_3=602;refseq.end_1=112862282;refseq.end_2=112862282;refseq.end_3=112862282;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1948;refseq.mrnaCoord_2=1948;refseq.mrnaCoord_3=1948;refseq.name2_1=RBM19;refseq.name2_2=RBM19;refseq.name2_3=RBM19;refseq.name_1=NM_001146698;refseq.name_2=NM_001146699;refseq.name_3=NM_016196;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q602E;refseq.proteinCoordStr_2=p.Q602E;refseq.proteinCoordStr_3=p.Q602E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=112862282;refseq.start_2=112862282;refseq.start_3=112862282;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr12 112877366 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.874A>C;refseq.codingCoordStr_2=c.874A>C;refseq.codingCoordStr_3=c.874A>C;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.codonCoord_3=292;refseq.end_1=112877366;refseq.end_2=112877366;refseq.end_3=112877366;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1018;refseq.mrnaCoord_2=1018;refseq.mrnaCoord_3=1018;refseq.name2_1=RBM19;refseq.name2_2=RBM19;refseq.name2_3=RBM19;refseq.name_1=NM_001146698;refseq.name_2=NM_001146699;refseq.name_3=NM_016196;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T292P;refseq.proteinCoordStr_2=p.T292P;refseq.proteinCoordStr_3=p.T292P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=112877366;refseq.start_2=112877366;refseq.start_3=112877366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr12 112877369 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.871A>C;refseq.codingCoordStr_2=c.871A>C;refseq.codingCoordStr_3=c.871A>C;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.codonCoord_3=291;refseq.end_1=112877369;refseq.end_2=112877369;refseq.end_3=112877369;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1015;refseq.mrnaCoord_2=1015;refseq.mrnaCoord_3=1015;refseq.name2_1=RBM19;refseq.name2_2=RBM19;refseq.name2_3=RBM19;refseq.name_1=NM_001146698;refseq.name_2=NM_001146699;refseq.name_3=NM_016196;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T291P;refseq.proteinCoordStr_2=p.T291P;refseq.proteinCoordStr_3=p.T291P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=112877369;refseq.start_2=112877369;refseq.start_3=112877369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr12 113601720 . G A 109.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=4536.04;QD=18.29;RankSumP=0.290333;SB=-1372.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.777C>T;refseq.codingCoordStr_2=c.837C>T;refseq.codonCoord_1=259;refseq.codonCoord_2=279;refseq.end_1=113601720;refseq.end_2=113601720;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1741;refseq.mrnaCoord_2=1801;refseq.name2_1=TBX3;refseq.name2_2=TBX3;refseq.name_1=NM_005996;refseq.name_2=NM_016569;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I259I;refseq.proteinCoordStr_2=p.I279I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=113601720;refseq.start_2=113601720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr12 114892921 . A G 147.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=98.80;MQ0=0;OQ=3057.03;QD=14.09;RankSumP=0.344408;SB=-911.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.5928T>C;refseq.codonCoord=1976;refseq.end=114892921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5983;refseq.name=NM_015335;refseq.name2=MED13L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1976T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=38;refseq.start=114892921;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr12 114914072 . A G 169.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=98.44;MQ0=0;OQ=2353.03;QD=13.22;RankSumP=0.394381;SB=-811.37;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3070T>C;refseq.codonCoord=1024;refseq.end=114914072;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3125;refseq.name=NM_015335;refseq.name2=MED13L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1024L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=74;refseq.start=114914072;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr12 114930828 . C T 166.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.48;MQ0=0;OQ=1746.92;QD=16.33;RankSumP=0.206772;SB=-871.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1773G>A;refseq.codonCoord=591;refseq.end=114930828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1828;refseq.name=NM_015335;refseq.name2=MED13L;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q591Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-240;refseq.start=114930828;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr12 114942100 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.686A>C;refseq.codonCoord=229;refseq.end=114942100;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_015335;refseq.name2=MED13L;refseq.positionType=CDS;refseq.proteinCoordStr=p.D229A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=61;refseq.start=114942100;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr12 115645359 . T C 215.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.61;MQ0=0;OQ=5348.76;QD=19.24;RankSumP=0.320258;SB=-2000.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.164A>G;refseq.codonCoord=55;refseq.end=115645359;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_024738;refseq.name2=C12orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q55R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=53;refseq.start=115645359;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr12 115659991 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=105;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.34;MQ0=0;OQ=1450.99;QD=13.82;RankSumP=0.0305201;SB=-499.35;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.98G>A;refseq.codonCoord=33;refseq.end=115659991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_024738;refseq.name2=C12orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.S33N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-14;refseq.start=115659991;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 115867703 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=2;HaplotypeScore=8.33;MQ=98.77;MQ0=0;OQ=10769.48;QD=40.95;RankSumP=1.00000;SB=-5353.57;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.377G>A;refseq.codingCoordStr_2=c.575G>A;refseq.codonCoord_1=126;refseq.codonCoord_2=192;refseq.end_1=115867703;refseq.end_2=115867703;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=459;refseq.mrnaCoord_2=657;refseq.name2_1=FBXW8;refseq.name2_2=FBXW8;refseq.name_1=NM_012174;refseq.name_2=NM_153348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R126Q;refseq.proteinCoordStr_2=p.R192Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=115867703;refseq.start_2=115867703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr12 115950240 . T C 261.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.58;MQ0=0;OQ=5849.46;QD=35.45;RankSumP=1.00000;SB=-2365.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1479T>C;refseq.codingCoordStr_2=c.1677T>C;refseq.codonCoord_1=493;refseq.codonCoord_2=559;refseq.end_1=115950240;refseq.end_2=115950240;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1561;refseq.mrnaCoord_2=1759;refseq.name2_1=FBXW8;refseq.name2_2=FBXW8;refseq.name_1=NM_012174;refseq.name_2=NM_153348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y493Y;refseq.proteinCoordStr_2=p.Y559Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=115950240;refseq.start_2=115950240;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr12 115950250 . G A 111.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=9.65;MQ=98.59;MQ0=0;OQ=2370.52;QD=14.03;RankSumP=0.496823;SB=-891.84;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1489G>A;refseq.codingCoordStr_2=c.1687G>A;refseq.codonCoord_1=497;refseq.codonCoord_2=563;refseq.end_1=115950250;refseq.end_2=115950250;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1571;refseq.mrnaCoord_2=1769;refseq.name2_1=FBXW8;refseq.name2_2=FBXW8;refseq.name_1=NM_012174;refseq.name_2=NM_153348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V497M;refseq.proteinCoordStr_2=p.V563M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=115950250;refseq.start_2=115950250;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr12 116145013 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00362379;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3865C>T;refseq.codonCoord=1289;refseq.end=116145013;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4551;refseq.name=NM_000620;refseq.name2=NOS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1289W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=39;refseq.start=116145013;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr12 116148898 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3677A>G;refseq.codonCoord=1226;refseq.end=116148898;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4363;refseq.name=NM_000620;refseq.name2=NOS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1226G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-28;refseq.start=116148898;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr12 116169653 . G A 310.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=98.77;MQ0=0;OQ=6964.02;QD=21.83;RankSumP=0.101697;SB=-2859.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2706C>T;refseq.codonCoord=902;refseq.end=116169653;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3392;refseq.name=NM_000620;refseq.name2=NOS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H902H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=58;refseq.start=116169653;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 116186097 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=525;Dels=0.00;HRun=0;HaplotypeScore=25.81;MQ=98.61;MQ0=0;OQ=9635.35;QD=18.35;RankSumP=0.0179082;SB=-3137.08;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2202T>C;refseq.codonCoord=734;refseq.end=116186097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2888;refseq.name=NM_000620;refseq.name2=NOS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I734I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-21;refseq.start=116186097;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr12 116194635 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1777T>G;refseq.codonCoord=593;refseq.end=116194635;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2463;refseq.name=NM_000620;refseq.name2=NOS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y593D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-63;refseq.start=116194635;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr12 117167134 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=511;Dels=0.00;HRun=1;HaplotypeScore=5.65;MQ=98.80;MQ0=0;OQ=21669.80;QD=42.41;RankSumP=1.00000;SB=-8086.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.140G>A;refseq.codonCoord=47;refseq.end=117167134;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=631;refseq.name=NM_016281;refseq.name2=TAOK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S47N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=20;refseq.start=117167134;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr12 118350879 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.81887e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.99C>A;refseq.codonCoord=33;refseq.end=118350879;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_178499;refseq.name2=CCDC60;refseq.positionType=CDS;refseq.proteinCoordStr=p.D33E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=118350879;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr12 118640524 . G A 111.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=15.72;MQ=98.11;MQ0=0;OQ=2977.10;QD=13.11;RankSumP=0.455297;SB=-1265.71;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3951C>T;refseq.codonCoord=1317;refseq.end=118640524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4004;refseq.name=NM_007174;refseq.name2=CIT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1317S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=74;refseq.start=118640524;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr12 118656378 . T C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=17.44;MQ=98.35;MQ0=0;OQ=12013.96;QD=37.78;RankSumP=1.00000;SB=-4727.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3198A>G;refseq.codonCoord=1066;refseq.end=118656378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3251;refseq.name=NM_007174;refseq.name2=CIT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1066R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-27;refseq.start=118656378;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr12 118674262 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=98.93;MQ0=0;OQ=1297.62;QD=9.01;RankSumP=0.291182;SB=-555.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2754T>C;refseq.codonCoord=918;refseq.end=118674262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2807;refseq.name=NM_007174;refseq.name2=CIT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A918A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-25;refseq.start=118674262;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 118674271 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.93;MQ0=0;OQ=1137.82;QD=8.13;RankSumP=0.471194;SB=-473.66;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2745A>G;refseq.codonCoord=915;refseq.end=118674271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2798;refseq.name=NM_007174;refseq.name2=CIT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T915T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-34;refseq.start=118674271;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr12 119059932 . A C 273.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.70;MQ0=0;OQ=2600.09;QD=37.68;RankSumP=1.00000;SB=-996.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.6463T>G;refseq.codonCoord=2155;refseq.end=119059932;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6476;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2155D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=70;refseq.start=119059932;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr12 119060175 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6306T>G;refseq.codonCoord=2102;refseq.end=119060175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6319;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2102G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=57;refseq.start=119060175;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 119073543 . A G 288.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=98.44;MQ0=0;OQ=2007.14;QD=15.80;RankSumP=0.467721;SB=-1021.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4098T>C;refseq.codonCoord=1366;refseq.end=119073543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4111;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1366L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=36;refseq.start=119073543;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr12 119077477 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.56978e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3581C>G;refseq.codonCoord=1194;refseq.end=119077477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3594;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1194G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-50;refseq.start=119077477;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 119098327 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr12;refseq.codingCoordStr=c.913+2;refseq.end=119098327;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=119098327;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr12 119112547 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.58A>C;refseq.codonCoord=20;refseq.end=119112547;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=71;refseq.name=NM_006836;refseq.name2=GCN1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=40;refseq.start=119112547;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr12 119119080 . G C 33 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=33;Dels=0.00;HRun=1;HaplotypeScore=5.87;MQ=86.00;MQ0=3;OQ=100.70;QD=3.05;RankSumP=0.00600918;SB=17.09;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.833C>G;refseq.codingCoordStr_2=c.833C>G;refseq.codonCoord_1=278;refseq.codonCoord_2=278;refseq.end_1=119119080;refseq.end_2=119119080;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1010;refseq.mrnaCoord_2=1070;refseq.name2_1=RPLP0;refseq.name2_2=RPLP0;refseq.name_1=NM_001002;refseq.name_2=NM_053275;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A278G;refseq.proteinCoordStr_2=p.A278G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=119119080;refseq.start_2=119119080;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr12 119121582 . G A 261.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=7.25;MQ=75.69;MQ0=21;OQ=7861.90;QD=17.95;RankSumP=0.0440303;SB=-1948.26;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.144C>T;refseq.codingCoordStr_2=c.144C>T;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=119121582;refseq.end_2=119121582;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=381;refseq.name2_1=RPLP0;refseq.name2_2=RPLP0;refseq.name_1=NM_001002;refseq.name_2=NM_053275;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R48R;refseq.proteinCoordStr_2=p.R48R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=119121582;refseq.start_2=119121582;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr12 119248082 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.159G>T;refseq.codonCoord=53;refseq.end=119248082;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_000928;refseq.name2=PLA2G1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L53F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-36;refseq.start=119248082;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr12 119368711 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=95.80;MQ0=0;OQ=311.18;QD=10.04;RankSumP=0.378188;SB=-140.14;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.45C>T;refseq.codonCoord=15;refseq.end=119368711;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=45;refseq.name=NM_176818;refseq.name2=GATC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G15G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-37;refseq.start=119368711;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr12 119368985 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.224T>G;refseq.codonCoord=75;refseq.end=119368985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=224;refseq.name=NM_176818;refseq.name2=GATC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V75G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-31;refseq.start=119368985;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 119451304 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=371.55;QD=11.26;RankSumP=0.630199;SB=-114.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.24T>C;refseq.codonCoord=8;refseq.end=119451304;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=44;refseq.name=NM_032314;refseq.name2=COQ5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A8A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=44;refseq.start=119451304;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr12 119482921 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=2.67672e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.977A>C;refseq.codonCoord=326;refseq.end=119482921;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_014868;refseq.name2=RNF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H326P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=119482921;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 119485195 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1193C>G;refseq.codonCoord=398;refseq.end=119485195;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1676;refseq.name=NM_014868;refseq.name2=RNF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A398G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-62;refseq.start=119485195;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 119501554 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=18.82;MQ=98.59;MQ0=0;OQ=20383.51;QD=41.01;RankSumP=1.00000;SB=-9634.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.442T>C;refseq.codingCoordStr_2=c.292T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=98;refseq.end_1=119501554;refseq.end_2=119501554;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=474;refseq.mrnaCoord_2=328;refseq.name2_1=POP5;refseq.name2_2=POP5;refseq.name_1=NM_015918;refseq.name_2=NM_198202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L148L;refseq.proteinCoordStr_2=p.L98L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=119501554;refseq.start_2=119501554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr12 119659282 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.67;MQ0=0;OQ=863.49;QD=28.78;RankSumP=1.00000;SB=-258.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.321T>C;refseq.codonCoord=107;refseq.end=119659282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_000017;refseq.name2=ACADS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R107R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-40;refseq.start=119659282;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr12 119661062 . C T 218.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=98.69;MQ0=0;OQ=6234.66;QD=37.56;RankSumP=1.00000;SB=-2499.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.990C>T;refseq.codonCoord=330;refseq.end=119661062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1108;refseq.name=NM_000017;refseq.name2=ACADS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R330R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-40;refseq.start=119661062;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr12 119661597 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=7.00359e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1202T>G;refseq.codonCoord=401;refseq.end=119661597;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_000017;refseq.name2=ACADS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V401G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=116;refseq.start=119661597;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 119901005 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=6.39;MQ=98.67;MQ0=0;OQ=908.68;QD=16.83;RankSumP=0.735386;SB=-346.23;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.51C>G;refseq.codonCoord=17;refseq.end=119901005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=74;refseq.name=NM_000545;refseq.name2=HNF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L17L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=74;refseq.start=119901005;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr12 119916500 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=70;Dels=0.00;HRun=8;HaplotypeScore=13.64;MQ=97.58;MQ0=0;OQ=789.85;QD=11.28;RankSumP=0.306179;SB=-407.81;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.864G>C;refseq.codonCoord=288;refseq.end=119916500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_000545;refseq.name2=HNF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G288G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-92;refseq.start=119916500;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr12 119919743 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1393T>C;refseq.codonCoord=465;refseq.end=119919743;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1416;refseq.name=NM_000545;refseq.name2=HNF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S465P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=84;refseq.start=119919743;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 119921765 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=97.86;MQ0=0;OQ=1608.77;QD=25.14;RankSumP=1.00000;SB=-335.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1720A>G;refseq.codonCoord=574;refseq.end=119921765;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1743;refseq.name=NM_000545;refseq.name2=HNF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S574G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-49;refseq.start=119921765;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr12 119926624 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=337;Dels=0.00;HRun=0;HaplotypeScore=65.76;MQ=96.34;MQ0=0;OQ=4538.64;QD=13.47;RankSumP=0.197165;SB=-1007.19;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.504G>A;refseq.codonCoord=168;refseq.end=119926624;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_022895;refseq.name2=C12orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.A168A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=52;refseq.start=119926624;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap-filterIngatk GT 0/1 chr12 119927266 . G A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=17;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=97.80;MQ0=0;OQ=178.34;QD=10.49;RankSumP=0.729545;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.375C>T;refseq.codonCoord=125;refseq.end=119927266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_022895;refseq.name2=C12orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.F125F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=14;refseq.start=119927266;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap-filterIngatk GT 1/0 chr12 119938531 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=97.30;MQ0=0;OQ=752.68;QD=13.44;RankSumP=0.264016;SB=-84.29;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.130G>A;refseq.codonCoord=44;refseq.end=119938531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_022895;refseq.name2=C12orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.G44R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-16;refseq.start=119938531;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr12 119938640 . T A 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=19.57;MQ=96.79;MQ0=0;OQ=11449.83;QD=37.54;RankSumP=1.00000;SB=-2599.72;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.21A>T;refseq.codonCoord=7;refseq.end=119938640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=44;refseq.name=NM_022895;refseq.name2=C12orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.T7T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=44;refseq.start=119938640;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr12 120084636 . T C 317.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.43;MQ0=0;OQ=11503.58;QD=40.65;RankSumP=1.00000;SB=-4956.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.463T>C;refseq.codonCoord=155;refseq.end=120084636;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_002562;refseq.name2=P2RX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y155H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=27;refseq.start=120084636;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr12 120099486 . G A 440.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.63;MQ0=0;OQ=4060.51;QD=41.02;RankSumP=1.00000;SB=-1900.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1042G>A;refseq.codonCoord=348;refseq.end=120099486;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_002562;refseq.name2=P2RX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A348T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=120099486;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr12 120106903 . A T 238.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.30;MQ0=0;OQ=412.69;QD=19.65;RankSumP=1.00000;SB=-224.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1703A>T;refseq.codonCoord=568;refseq.end=120106903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1799;refseq.name=NM_002562;refseq.name2=P2RX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N568I;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=413;refseq.start=120106903;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr12 120106946 . G A 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=96.01;MQ0=0;OQ=456.13;QD=38.01;RankSumP=1.00000;SB=-137.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1746G>A;refseq.codonCoord=582;refseq.end=120106946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1842;refseq.name=NM_002562;refseq.name2=P2RX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P582P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=456;refseq.start=120106946;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr12 120145170 . T C 184 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.98;MQ0=0;OQ=3664.39;QD=33.93;RankSumP=1.00000;SB=-1508.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.465T>C;refseq.codonCoord=155;refseq.end=120145170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_002560;refseq.name2=P2RX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S155S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=38;refseq.start=120145170;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr12 120151029 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=418;Dels=0.00;HRun=1;HaplotypeScore=11.37;MQ=98.76;MQ0=0;OQ=7843.64;QD=18.76;RankSumP=0.304076;SB=-2923.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.724A>G;refseq.codonCoord=242;refseq.end=120151029;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1028;refseq.name=NM_002560;refseq.name2=P2RX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S242G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-24;refseq.start=120151029;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr12 120175479 . G A 206.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=98.53;MQ0=0;OQ=3017.21;QD=13.71;RankSumP=0.0374152;SB=-937.23;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.chr_6=chr12;refseq.chr_7=chr12;refseq.codingCoordStr_1=c.1087C>T;refseq.codingCoordStr_2=c.1087C>T;refseq.codingCoordStr_3=c.1087C>T;refseq.codingCoordStr_4=c.1087C>T;refseq.codingCoordStr_5=c.1087C>T;refseq.codingCoordStr_6=c.1087C>T;refseq.codingCoordStr_7=c.1087C>T;refseq.codonCoord_1=363;refseq.codonCoord_2=363;refseq.codonCoord_3=363;refseq.codonCoord_4=363;refseq.codonCoord_5=363;refseq.codonCoord_6=363;refseq.codonCoord_7=363;refseq.end_1=120175479;refseq.end_2=120175479;refseq.end_3=120175479;refseq.end_4=120175479;refseq.end_5=120175479;refseq.end_6=120175479;refseq.end_7=120175479;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1916;refseq.mrnaCoord_2=1916;refseq.mrnaCoord_3=1916;refseq.mrnaCoord_4=1916;refseq.mrnaCoord_5=1916;refseq.mrnaCoord_6=1916;refseq.mrnaCoord_7=1262;refseq.name2_1=CAMKK2;refseq.name2_2=CAMKK2;refseq.name2_3=CAMKK2;refseq.name2_4=CAMKK2;refseq.name2_5=CAMKK2;refseq.name2_6=CAMKK2;refseq.name2_7=CAMKK2;refseq.name_1=NM_006549;refseq.name_2=NM_153499;refseq.name_3=NM_153500;refseq.name_4=NM_172214;refseq.name_5=NM_172215;refseq.name_6=NM_172216;refseq.name_7=NM_172226;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.R363C;refseq.proteinCoordStr_2=p.R363C;refseq.proteinCoordStr_3=p.R363C;refseq.proteinCoordStr_4=p.R363C;refseq.proteinCoordStr_5=p.R363C;refseq.proteinCoordStr_6=p.R363C;refseq.proteinCoordStr_7=p.R363C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.referenceCodon_7=CGC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.spliceDist_5=-21;refseq.spliceDist_6=-21;refseq.spliceDist_7=-21;refseq.start_1=120175479;refseq.start_2=120175479;refseq.start_3=120175479;refseq.start_4=120175479;refseq.start_5=120175479;refseq.start_6=120175479;refseq.start_7=120175479;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantAA_6=Cys;refseq.variantAA_7=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;refseq.variantCodon_5=TGC;refseq.variantCodon_6=TGC;refseq.variantCodon_7=TGC;set=Intersection GT 1/0 chr12 120345607 . G C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.0245814;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.964G>C;refseq.codingCoordStr_2=c.967G>C;refseq.codonCoord_1=322;refseq.codonCoord_2=323;refseq.end_1=120345607;refseq.end_2=120345607;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1144;refseq.name2_1=RNF34;refseq.name2_2=RNF34;refseq.name_1=NM_025126;refseq.name_2=NM_194271;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D322H;refseq.proteinCoordStr_2=p.D323H;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=120345607;refseq.start_2=120345607;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 0/1 chr12 120345608 . A C 80 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00507253;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.965A>C;refseq.codingCoordStr_2=c.968A>C;refseq.codonCoord_1=322;refseq.codonCoord_2=323;refseq.end_1=120345608;refseq.end_2=120345608;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1079;refseq.mrnaCoord_2=1145;refseq.name2_1=RNF34;refseq.name2_2=RNF34;refseq.name_1=NM_025126;refseq.name_2=NM_194271;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D322A;refseq.proteinCoordStr_2=p.D323A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=120345608;refseq.start_2=120345608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr12 120549160 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=1;RankSumP=0.0952381;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.130C>G;refseq.codonCoord=44;refseq.end=120549160;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_032790;refseq.name2=ORAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-180;refseq.start=120549160;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr12 120549162 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.000777001;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.132A>C;refseq.codonCoord=44;refseq.end=120549162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_032790;refseq.name2=ORAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-178;refseq.start=120549162;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr12 120563916 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.896G>C;refseq.codonCoord=299;refseq.end=120563916;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_032790;refseq.name2=ORAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G299A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-414;refseq.start=120563916;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr12 120670651 . C T 156.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=7.40;MQ=98.63;MQ0=0;OQ=4367.90;QD=18.67;RankSumP=0.365730;SB=-1495.40;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.225C>T;refseq.codonCoord=75;refseq.end=120670651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_001080825;refseq.name2=TMEM120B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L75L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=37;refseq.start=120670651;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr12 120670700 . G A 100.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=3.23;MQ=98.38;MQ0=0;OQ=1876.24;QD=15.38;RankSumP=0.297920;SB=-738.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.274G>A;refseq.codonCoord=92;refseq.end=120670700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_001080825;refseq.name2=TMEM120B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D92N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-32;refseq.start=120670700;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr12 120674418 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.367T>G;refseq.codonCoord=123;refseq.end=120674418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_001080825;refseq.name2=TMEM120B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F123V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=120674418;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr12 120697421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr12;refseq.codingCoordStr=c.906+2;refseq.end=120697421;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001080825;refseq.name2=TMEM120B;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=120697421;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr12 120715450 . C T 17.49 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;QD=4.37;SB=-32.54;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.217G>A;refseq.codonCoord=73;refseq.end=120715450;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_019034;refseq.name2=RHOF;refseq.positionType=CDS;refseq.proteinCoordStr=p.D73N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=120715450;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2,2:3:-5.93,-0.91,-2.37:14.65 chr12 120779718 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=98.82;MQ0=0;OQ=2050.49;QD=10.62;RankSumP=0.0129177;SB=-618.83;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.-21A>G;refseq.codingCoordStr_2=c.97A>G;refseq.codonCoord_2=33;refseq.end_1=120779718;refseq.end_2=120779718;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=613;refseq.mrnaCoord_2=137;refseq.name2_1=HPD;refseq.name2_2=HPD;refseq.name_1=NM_001171993;refseq.name_2=NM_002150;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T33A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=120779718;refseq.start_2=120779718;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr12 120811195 . T C 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=7.16;MQ=97.81;MQ0=0;OQ=77.31;QD=2.49;RankSumP=0.502086;SB=-58.31;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.50T>C;refseq.codonCoord=17;refseq.end=120811195;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_002813;refseq.name2=PSMD9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V17A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-89;refseq.start=120811195;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr12 120843791 . G A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.263654;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.197G>A;refseq.codonCoord=66;refseq.end=120843791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_144668;refseq.name2=WDR66;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-182;refseq.start=120843791;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr12 121240711 . G A 127.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.47;MQ0=0;OQ=2215.49;QD=19.27;RankSumP=0.289081;SB=-387.37;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.744G>A;refseq.codingCoordStr_2=c.189G>A;refseq.codonCoord_1=248;refseq.codonCoord_2=63;refseq.end_1=121240711;refseq.end_2=121240711;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=769;refseq.mrnaCoord_2=658;refseq.name2_1=LRRC43;refseq.name2_2=LRRC43;refseq.name_1=NM_001098519;refseq.name_2=NM_152759;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R248R;refseq.proteinCoordStr_2=p.R63R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.start_1=121240711;refseq.start_2=121240711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/0 chr12 121240733 . C A 132.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=5.02;MQ=98.53;MQ0=0;OQ=2061.51;QD=13.39;RankSumP=0.481836;SB=-650.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.766C>A;refseq.codingCoordStr_2=c.211C>A;refseq.codonCoord_1=256;refseq.codonCoord_2=71;refseq.end_1=121240733;refseq.end_2=121240733;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=791;refseq.mrnaCoord_2=680;refseq.name2_1=LRRC43;refseq.name2_2=LRRC43;refseq.name_1=NM_001098519;refseq.name_2=NM_152759;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q256K;refseq.proteinCoordStr_2=p.Q71K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=104;refseq.spliceDist_2=104;refseq.start_1=121240733;refseq.start_2=121240733;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr12 121241966 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=3;HaplotypeScore=6.54;MQ=98.84;MQ0=0;OQ=1999.65;QD=11.30;RankSumP=0.161731;SB=-847.29;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.988A>C;refseq.codingCoordStr_2=c.433A>C;refseq.codonCoord_1=330;refseq.codonCoord_2=145;refseq.end_1=121241966;refseq.end_2=121241966;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1013;refseq.mrnaCoord_2=902;refseq.name2_1=LRRC43;refseq.name2_2=LRRC43;refseq.name_1=NM_001098519;refseq.name_2=NM_152759;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R330R;refseq.proteinCoordStr_2=p.R145R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=121241966;refseq.start_2=121241966;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr12 121255134 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=5.42;MQ=95.58;MQ0=0;OQ=2113.74;QD=19.75;RankSumP=0.251481;SB=-854.42;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.16C>G;refseq.codonCoord=6;refseq.end=121255134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_030765;refseq.name2=B3GNT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P6A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-51;refseq.start=121255134;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr12 121257691 . C A 253.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.71;MQ0=0;OQ=9152.33;QD=37.66;RankSumP=1.00000;SB=-4028.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.940C>A;refseq.codonCoord=314;refseq.end=121257691;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1158;refseq.name=NM_030765;refseq.name2=B3GNT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R314R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-347;refseq.start=121257691;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr12 121267281 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_3=c.404T>G;refseq.codingCoordStr_4=c.272T>G;refseq.codonCoord_3=135;refseq.codonCoord_4=91;refseq.end_1=121267281;refseq.end_2=121267281;refseq.end_3=121267281;refseq.end_4=121267281;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1048;refseq.mrnaCoord_3=1209;refseq.mrnaCoord_4=1077;refseq.name2_1=DIABLO;refseq.name2_2=DIABLO;refseq.name2_3=DIABLO;refseq.name2_4=DIABLO;refseq.name_1=NR_024600;refseq.name_2=NR_024601;refseq.name_3=NM_019887;refseq.name_4=NM_138929;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V135G;refseq.proteinCoordStr_4=p.V91G;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.spliceDist_4=-23;refseq.start_1=121267281;refseq.start_2=121267281;refseq.start_3=121267281;refseq.start_4=121267281;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr12 121268875 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.215998;SecondBestBaseQ=31;refseq.changesAA_4=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.codingCoordStr_4=c.206G>A;refseq.codonCoord_4=69;refseq.end_1=121275001;refseq.end_2=121275134;refseq.end_3=121268875;refseq.end_4=121268875;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=982;refseq.mrnaCoord_4=1011;refseq.name2_1=DIABLO;refseq.name2_2=DIABLO;refseq.name2_3=DIABLO;refseq.name2_4=DIABLO;refseq.name_1=NM_138929;refseq.name_2=NR_024601;refseq.name_3=NR_024600;refseq.name_4=NM_019887;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.S69N;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=AGT;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.start_1=121267380;refseq.start_2=121267380;refseq.start_3=121268875;refseq.start_4=121268875;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Asn;refseq.variantCodon_4=AAT;set=FilteredInAll GT 0/1 chr12 121283331 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1578G>C;refseq.codonCoord=526;refseq.end=121283331;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1691;refseq.name=NM_022916;refseq.name2=VPS33A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R526R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-32;refseq.start=121283331;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr12 121378456 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=495;Dels=0.00;HRun=0;HaplotypeScore=16.93;MQ=98.22;MQ0=0;OQ=9492.22;QD=19.18;RankSumP=0.153116;SB=-375.03;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.3207C>G;refseq.codingCoordStr_2=c.3102C>G;refseq.codonCoord_1=1069;refseq.codonCoord_2=1034;refseq.end_1=121378456;refseq.end_2=121378456;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3362;refseq.mrnaCoord_2=3257;refseq.name2_1=CLIP1;refseq.name2_2=CLIP1;refseq.name_1=NM_002956;refseq.name_2=NM_198240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1069E;refseq.proteinCoordStr_2=p.D1034E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=121378456;refseq.start_2=121378456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr12 121411648 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.816C>T;refseq.codingCoordStr_2=c.816C>T;refseq.codonCoord_1=272;refseq.codonCoord_2=272;refseq.end_1=121411648;refseq.end_2=121411648;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=971;refseq.mrnaCoord_2=971;refseq.name2_1=CLIP1;refseq.name2_2=CLIP1;refseq.name_1=NM_002956;refseq.name_2=NM_198240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F272F;refseq.proteinCoordStr_2=p.F272F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=121411648;refseq.start_2=121411648;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr12 121411651 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=296;Dels=0.00;HRun=2;HaplotypeScore=43.38;MQ=90.08;MQ0=0;OQ=864.09;QD=2.92;RankSumP=0.275782;SB=101.32;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.813G>T;refseq.codingCoordStr_2=c.813G>T;refseq.codonCoord_1=271;refseq.codonCoord_2=271;refseq.end_1=121411651;refseq.end_2=121411651;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=968;refseq.mrnaCoord_2=968;refseq.name2_1=CLIP1;refseq.name2_2=CLIP1;refseq.name_1=NM_002956;refseq.name_2=NM_198240;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L271F;refseq.proteinCoordStr_2=p.L271F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=121411651;refseq.start_2=121411651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=soap-filterIngatk GT 1/0 chr12 121752833 . C T 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.260440;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.951G>A;refseq.codonCoord=317;refseq.end=121752833;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_177551;refseq.name2=GPR109A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M317I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=1025;refseq.start=121752833;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr12 121752853 . G A 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.591919;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.931C>T;refseq.codonCoord=311;refseq.end=121752853;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_177551;refseq.name2=GPR109A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R311C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=1005;refseq.start=121752853;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr12 121899018 . C T 269.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=98.38;MQ0=0;OQ=4791.20;QD=34.72;RankSumP=1.00000;SB=-1951.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.210C>T;refseq.codonCoord=70;refseq.end=121899018;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_003959;refseq.name2=HIP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y70Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=53;refseq.start=121899018;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr12 121900395 . C T 153.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=98.96;MQ0=0;OQ=1342.01;QD=15.98;RankSumP=0.267186;SB=-545.09;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.378C>T;refseq.codonCoord=126;refseq.end=121900395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_003959;refseq.name2=HIP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y126Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=21;refseq.start=121900395;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr12 121911689 . C G 104.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=12.50;MQ=94.93;MQ0=0;OQ=10695.42;QD=43.65;RankSumP=1.00000;SB=-2504.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2949C>G;refseq.codonCoord=983;refseq.end=121911689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3008;refseq.name=NM_003959;refseq.name2=HIP1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T983T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=121911689;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr12 122027237 . G A 178.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=97.26;MQ0=0;OQ=1430.82;QD=17.89;RankSumP=0.0758571;SB=-574.77;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.93G>A;refseq.codonCoord=31;refseq.end=122027237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_024623;refseq.name2=OGFOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P31P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-31;refseq.start=122027237;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr12 122029734 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.761A>C;refseq.codonCoord=254;refseq.end=122029734;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_024623;refseq.name2=OGFOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N254T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=152;refseq.start=122029734;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr12 122037047 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.46;MQ0=0;OQ=918.16;QD=14.57;RankSumP=0.720026;SB=-454.93;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3615C>T;refseq.codonCoord=1205;refseq.end=122037047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3754;refseq.name=NM_020845;refseq.name2=PITPNM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1205H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=18;refseq.start=122037047;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr12 122045987 . G A 137.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=97.61;MQ0=0;OQ=2887.53;QD=13.95;RankSumP=0.374595;SB=-1152.69;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1956C>T;refseq.codonCoord=652;refseq.end=122045987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2095;refseq.name=NM_020845;refseq.name2=PITPNM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N652N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-99;refseq.start=122045987;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr12 122060537 . C A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0894944;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.456G>T;refseq.codonCoord=152;refseq.end=122060537;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=595;refseq.name=NM_020845;refseq.name2=PITPNM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E152D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=41;refseq.start=122060537;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr12 122211756 . G A 298.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=8.19;MQ=98.98;MQ0=0;OQ=8349.67;QD=22.81;RankSumP=0.372951;SB=-2571.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2805C>T;refseq.codonCoord=935;refseq.end=122211756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2912;refseq.name=NM_022782;refseq.name2=MPHOSPH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y935Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-121;refseq.start=122211756;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr12 122372172 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=426;Dels=0.00;HRun=1;HaplotypeScore=5.74;MQ=98.79;MQ0=0;OQ=8443.97;QD=19.82;RankSumP=0.445450;SB=-3290.03;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2186G>A;refseq.codingCoordStr_2=c.2183G>A;refseq.codonCoord_1=729;refseq.codonCoord_2=728;refseq.end_1=122372172;refseq.end_2=122372172;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2186;refseq.mrnaCoord_2=2183;refseq.name2_1=SBNO1;refseq.name2_2=SBNO1;refseq.name_1=NM_001167856;refseq.name_2=NM_018183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S729N;refseq.proteinCoordStr_2=p.S728N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=122372172;refseq.start_2=122372172;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr12 122391512 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=2;HaplotypeScore=8.58;MQ=98.63;MQ0=0;OQ=1838.84;QD=18.03;RankSumP=0.387083;SB=-677.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.627G>A;refseq.codingCoordStr_2=c.624G>A;refseq.codonCoord_1=209;refseq.codonCoord_2=208;refseq.end_1=122391512;refseq.end_2=122391512;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=627;refseq.mrnaCoord_2=624;refseq.name2_1=SBNO1;refseq.name2_2=SBNO1;refseq.name_1=NM_001167856;refseq.name_2=NM_018183;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K209K;refseq.proteinCoordStr_2=p.K208K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=122391512;refseq.start_2=122391512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr12 122516288 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_1=c.248T>G;refseq.codingCoordStr_2=c.263T>G;refseq.codingCoordStr_3=c.263T>G;refseq.codonCoord_1=83;refseq.codonCoord_2=88;refseq.codonCoord_3=88;refseq.end_1=122516288;refseq.end_2=122516288;refseq.end_3=122516288;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=364;refseq.mrnaCoord_2=313;refseq.mrnaCoord_3=901;refseq.name2_1=SNRNP35;refseq.name2_2=SNRNP35;refseq.name2_3=SNRNP35;refseq.name_1=NM_022717;refseq.name_2=NM_180699;refseq.name_3=NM_180703;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V83G;refseq.proteinCoordStr_2=p.V88G;refseq.proteinCoordStr_3=p.V88G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=251;refseq.spliceDist_2=251;refseq.spliceDist_3=251;refseq.start_1=122516288;refseq.start_2=122516288;refseq.start_3=122516288;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr12 122635166 . T C 97.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=97.76;MQ0=0;OQ=3569.49;QD=33.05;RankSumP=1.00000;SB=-1506.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.30T>C;refseq.codonCoord=10;refseq.end=122635166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_006815;refseq.name2=TMED2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L10L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=138;refseq.start=122635166;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr12 122670002 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=467;Dels=0.00;HRun=2;HaplotypeScore=14.20;MQ=98.17;MQ0=0;OQ=9257.44;QD=19.82;RankSumP=0.382486;SB=-2966.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1404A>G;refseq.codonCoord=468;refseq.end=122670002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_020936;refseq.name2=DDX55;refseq.positionType=CDS;refseq.proteinCoordStr=p.G468G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=71;refseq.start=122670002;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr12 122670639 . G A 208.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=1;HaplotypeScore=9.48;MQ=98.53;MQ0=0;OQ=6661.31;QD=18.71;RankSumP=0.216411;SB=-1796.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1802G>A;refseq.codonCoord=601;refseq.end=122670639;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1826;refseq.name=NM_020936;refseq.name2=DDX55;refseq.positionType=CDS;refseq.proteinCoordStr=p.*601*;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=176;refseq.start=122670639;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 1/0 chr12 122710348 . A G 196.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=8.30;MQ=98.84;MQ0=0;OQ=6266.30;QD=16.23;RankSumP=0.0748154;SB=-2038.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.738A>G;refseq.codonCoord=246;refseq.end=122710348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_001516;refseq.name2=GTF2H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P246P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=54;refseq.start=122710348;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr12 122745370 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=4;HaplotypeScore=2.15;MQ=98.74;MQ0=0;OQ=4609.09;QD=20.22;RankSumP=0.430564;SB=-1683.13;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1125T>C;refseq.codingCoordStr_2=c.1128T>C;refseq.codonCoord_1=375;refseq.codonCoord_2=376;refseq.end_1=122745370;refseq.end_2=122745370;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1253;refseq.mrnaCoord_2=1256;refseq.name2_1=TCTN2;refseq.name2_2=TCTN2;refseq.name_1=NM_001143850;refseq.name_2=NM_024809;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P375P;refseq.proteinCoordStr_2=p.P376P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=122745370;refseq.start_2=122745370;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr12 122775285 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.98;MQ0=0;OQ=1469.91;QD=12.15;RankSumP=0.498989;SB=-502.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=122775285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_012463;refseq.name2=ATP6V0A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N142N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=122775285;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr12 122776735 . T C 279.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=98.85;MQ0=0;OQ=8001.02;QD=18.83;RankSumP=4.51330e-06;SB=-2608.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.471T>C;refseq.codonCoord=157;refseq.end=122776735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_012463;refseq.name2=ATP6V0A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S157S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=39;refseq.start=122776735;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr12 122795382 . T C 182.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.99;MQ0=0;OQ=2096.73;QD=14.87;RankSumP=0.184171;SB=-406.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1515T>C;refseq.codonCoord=505;refseq.end=122795382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1763;refseq.name=NM_012463;refseq.name2=ATP6V0A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N505N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=122795382;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr12 122799182 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1832T>G;refseq.codonCoord=611;refseq.end=122799182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2080;refseq.name=NM_012463;refseq.name2=ATP6V0A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V611G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-104;refseq.start=122799182;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr12 122802791 . C A 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=5.50088e-09;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2064C>A;refseq.codonCoord=688;refseq.end=122802791;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2312;refseq.name=NM_012463;refseq.name2=ATP6V0A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y688*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=122802791;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr12 123395187 . C T 49.14 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=80.93;MQ0=0;QD=16.38;RankSumP=1.00000;SB=-51.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.4596G>A;refseq.codingCoordStr_2=c.4644G>A;refseq.codonCoord_1=1532;refseq.codonCoord_2=1548;refseq.end_1=123395187;refseq.end_2=123395187;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4752;refseq.mrnaCoord_2=4800;refseq.name2_1=NCOR2;refseq.name2_2=NCOR2;refseq.name_1=NM_001077261;refseq.name_2=NM_006312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1532L;refseq.proteinCoordStr_2=p.L1548L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=123395187;refseq.start_2=123395187;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT 1/1 chr12 123422571 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=14.83;MQ=96.97;MQ0=0;OQ=1385.16;QD=7.87;RankSumP=0.408677;SB=-388.99;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2706T>C;refseq.codingCoordStr_2=c.2757T>C;refseq.codonCoord_1=902;refseq.codonCoord_2=919;refseq.end_1=123422571;refseq.end_2=123422571;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2862;refseq.mrnaCoord_2=2913;refseq.name2_1=NCOR2;refseq.name2_2=NCOR2;refseq.name_1=NM_001077261;refseq.name_2=NM_006312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A902A;refseq.proteinCoordStr_2=p.A919A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=123422571;refseq.start_2=123422571;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr12 123422613 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=19.63;MQ=97.89;MQ0=0;OQ=1791.02;QD=11.86;RankSumP=0.314622;SB=-752.00;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.2664A>T;refseq.codingCoordStr_2=c.2715A>T;refseq.codonCoord_1=888;refseq.codonCoord_2=905;refseq.end_1=123422613;refseq.end_2=123422613;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2820;refseq.mrnaCoord_2=2871;refseq.name2_1=NCOR2;refseq.name2_2=NCOR2;refseq.name_1=NM_001077261;refseq.name_2=NM_006312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T888T;refseq.proteinCoordStr_2=p.T905T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-93;refseq.spliceDist_2=-93;refseq.start_1=123422613;refseq.start_2=123422613;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr12 123523580 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=15.52;MQ=98.65;MQ0=0;OQ=2557.80;QD=12.98;RankSumP=0.0906799;SB=-485.03;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.462G>A;refseq.codingCoordStr_2=c.462G>A;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=123523580;refseq.end_2=123523580;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=618;refseq.name2_1=NCOR2;refseq.name2_2=NCOR2;refseq.name_1=NM_001077261;refseq.name_2=NM_006312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P154P;refseq.proteinCoordStr_2=p.P154P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=123523580;refseq.start_2=123523580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr12 123868057 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=125;Dels=0.00;HRun=0;HaplotypeScore=6.70;MQ=98.58;MQ0=0;OQ=1493.33;QD=11.95;RankSumP=0.118640;SB=-373.85;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.276C>T;refseq.codingCoordStr_2=c.276C>T;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=123868057;refseq.end_2=123868057;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=529;refseq.mrnaCoord_2=529;refseq.name2_1=SCARB1;refseq.name2_2=SCARB1;refseq.name_1=NM_001082959;refseq.name_2=NM_005505;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y92Y;refseq.proteinCoordStr_2=p.Y92Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=123868057;refseq.start_2=123868057;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr12 123962441 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=12.91;MQ=17.37;MQ0=524;OQ=1056.02;QD=1.87;RankSumP=1.00000;SB=-166.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1830A>G;refseq.codonCoord=610;refseq.end=123962441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2278;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q610Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-297;refseq.start=123962441;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr12 123962558 rs17840844 G A 29.23 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=1199;Dels=0.00;HRun=0;HaplotypeScore=30.96;MQ=4.67;MQ0=1190;QD=0.02;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1713C>T;refseq.codonCoord=571;refseq.end=123962558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D571D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-414;refseq.start=123962558;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1045,154:7:-8.32,-2.11,-18.34:62.06 chr12 123962912 . A G 12.38 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1248;Dels=0.00;HRun=0;HaplotypeScore=63.41;MQ=2.80;MQ0=1247;QD=0.01;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1359T>C;refseq.codonCoord=453;refseq.end=123962912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1807;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L453L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-768;refseq.start=123962912;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1196,51:1:-4.50,-0.30,-0.00:1.76 chr12 123962932 . G A 13.05 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1127;Dels=0.00;HRun=1;HaplotypeScore=32.26;MQ=2.95;MQ0=1126;QD=0.01;SB=-10.00;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1339C>T;refseq.codonCoord=447;refseq.end=123962932;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1787;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L447L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-788;refseq.start=123962932;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1121,5:1:-4.57,-0.30,-0.00:1.76 chr12 123963014 . G A 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=1309;Dels=0.00;HRun=0;HaplotypeScore=34.54;MQ=10.03;MQ0=1171;OQ=4917.29;QD=3.76;RankSumP=1.00000;SB=-53.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1257C>T;refseq.codonCoord=419;refseq.end=123963014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1705;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D419D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-870;refseq.start=123963014;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 1/1 chr12 123963317 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1255;Dels=0.00;HRun=1;HaplotypeScore=65.11;MQ=20.66;MQ0=1014;OQ=6197.74;QD=4.94;RankSumP=1.00000;SB=-1722.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.954T>C;refseq.codonCoord=318;refseq.end=123963317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T318T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=957;refseq.start=123963317;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/1 chr12 123963703 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=812;Dels=0.00;HRun=1;HaplotypeScore=16.08;MQ=38.54;MQ0=356;OQ=17548.77;QD=21.61;RankSumP=1.00000;SB=-6700.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.568T>C;refseq.codonCoord=190;refseq.end=123963703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S190P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=571;refseq.start=123963703;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr12 123963848 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1124;Dels=0.00;HRun=1;HaplotypeScore=13.72;MQ=8.02;MQ0=1035;OQ=134.30;QD=0.12;RankSumP=0.472301;SB=23.10;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.423T>C;refseq.codonCoord=141;refseq.end=123963848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=426;refseq.start=123963848;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr12 123963992 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=887;Dels=0.00;HRun=1;HaplotypeScore=26.56;MQ=40.44;MQ0=153;OQ=34666.90;QD=39.08;RankSumP=1.00000;SB=-16787.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.279C>G;refseq.codonCoord=93;refseq.end=123963992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=727;refseq.name=NM_021009;refseq.name2=UBC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=282;refseq.start=123963992;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/1 chr12 124007312 . T C 226.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.54;MQ0=0;OQ=2171.84;QD=31.03;RankSumP=1.00000;SB=-1079.08;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2331A>G;refseq.codonCoord=777;refseq.end=124007312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2430;refseq.name=NM_032656;refseq.name2=DHX37;refseq.positionType=CDS;refseq.proteinCoordStr=p.T777T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=67;refseq.start=124007312;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr12 124014913 . C T 165.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.77;MQ0=0;OQ=725.90;QD=34.57;RankSumP=1.00000;SB=-92.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2025G>A;refseq.codonCoord=675;refseq.end=124014913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2124;refseq.name=NM_032656;refseq.name2=DHX37;refseq.positionType=CDS;refseq.proteinCoordStr=p.T675T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-21;refseq.start=124014913;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 124016264 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1638C>G;refseq.codonCoord=546;refseq.end=124016264;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1737;refseq.name=NM_032656;refseq.name2=DHX37;refseq.positionType=CDS;refseq.proteinCoordStr=p.G546G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=48;refseq.start=124016264;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 124019068 . C T 257.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=99.00;MQ0=0;OQ=1397.73;QD=17.26;RankSumP=0.304948;SB=-546.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1373G>A;refseq.codonCoord=458;refseq.end=124019068;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_032656;refseq.name2=DHX37;refseq.positionType=CDS;refseq.proteinCoordStr=p.R458Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-36;refseq.start=124019068;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr12 124019463 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=2.50703e-05;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1196A>C;refseq.codonCoord=399;refseq.end=124019463;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_032656;refseq.name2=DHX37;refseq.positionType=CDS;refseq.proteinCoordStr=p.N399T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=124019463;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr12 124400348 . T C 324.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=528;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.81;MQ0=0;OQ=9201.05;QD=17.43;RankSumP=0.0151188;SB=-2621.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.450T>C;refseq.codonCoord=150;refseq.end=124400348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_052907;refseq.name2=TMEM132B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S150S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=398;refseq.start=124400348;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr12 124400753 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=277;Dels=0.00;HRun=0;HaplotypeScore=10.72;MQ=98.67;MQ0=0;OQ=5754.38;QD=20.77;RankSumP=0.444972;SB=-1372.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.855G>A;refseq.codonCoord=285;refseq.end=124400753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_052907;refseq.name2=TMEM132B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S285S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-90;refseq.start=124400753;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr12 124634370 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1052;Dels=0.00;HRun=1;HaplotypeScore=31.65;MQ=82.10;MQ0=3;OQ=37820.05;QD=35.95;RankSumP=1.00000;SB=-15184.69;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1299T>C;refseq.codonCoord=433;refseq.end=124634370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1307;refseq.name=NM_052907;refseq.name2=TMEM132B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T433T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=21;refseq.start=124634370;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 1/1 chr12 124702970 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.190476;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1930G>A;refseq.codonCoord=644;refseq.end=124702970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1938;refseq.name=NM_052907;refseq.name2=TMEM132B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A644T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=31;refseq.start=124702970;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr12 127844817 . A G 132.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=7.78;MQ=98.27;MQ0=0;OQ=2706.41;QD=28.49;RankSumP=1.00000;SB=-1307.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1611T>C;refseq.codonCoord=537;refseq.end=127844817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_145648;refseq.name2=SLC15A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F537F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=38;refseq.start=127844817;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr12 127851402 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1364T>G;refseq.codonCoord=455;refseq.end=127851402;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1417;refseq.name=NM_145648;refseq.name2=SLC15A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V455G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-51;refseq.start=127851402;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr12 127873959 . C T 26.35 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.39;RankSumP=0.400000;SB=-35.53;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=127873959;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_145648;refseq.name2=SLC15A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L161L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-64;refseq.start=127873959;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT 0/1 chr12 127926451 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.61;MQ0=0;OQ=1942.25;QD=19.23;RankSumP=0.100458;SB=-959.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.108G>A;refseq.codonCoord=36;refseq.end=127926451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_144669;refseq.name2=GLT1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K36K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=40;refseq.start=127926451;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr12 128033530 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.743T>G;refseq.codonCoord=248;refseq.end=128033530;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_144669;refseq.name2=GLT1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V248G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=104;refseq.start=128033530;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 128125039 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=2;HaplotypeScore=24.88;MQ=98.45;MQ0=0;OQ=4678.00;QD=19.09;RankSumP=0.100164;SB=-1011.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2634G>T;refseq.codonCoord=878;refseq.end=128125039;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2962;refseq.name=NM_133448;refseq.name2=TMEM132D;refseq.positionType=CDS;refseq.proteinCoordStr=p.L878F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=519;refseq.start=128125039;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr12 128125510 . C T 349.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.14;MQ0=0;OQ=5370.86;QD=17.33;RankSumP=0.00145786;SB=-1606.91;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2163G>A;refseq.codonCoord=721;refseq.end=128125510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2491;refseq.name=NM_133448;refseq.name2=TMEM132D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T721T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=48;refseq.start=128125510;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr12 129405118 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=99.00;MQ0=0;OQ=925.95;QD=7.07;RankSumP=0.166244;SB=-161.58;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1128G>A;refseq.codonCoord=376;refseq.end=129405118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_004764;refseq.name2=PIWIL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L376L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-44;refseq.start=129405118;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr12 129450300 . A G 166.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.84;MQ0=0;OQ=1972.18;QD=13.33;RankSumP=0.434967;SB=-723.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3009T>C;refseq.codonCoord=1003;refseq.end=129450300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3173;refseq.name=NM_015347;refseq.name2=RIMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1003N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=12;refseq.start=129450300;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr12 129507103 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.26;MQ0=0;OQ=964.49;QD=16.63;RankSumP=0.623639;SB=-346.19;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.198C>G;refseq.codonCoord=66;refseq.end=129507103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_015347;refseq.name2=RIMBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G66G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=96;refseq.start=129507103;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr12 129842401 . G T 136.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=15.88;MQ=98.47;MQ0=0;OQ=8280.07;QD=38.51;RankSumP=1.00000;SB=-3292.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.861C>A;refseq.codingCoordStr_2=c.*120C>A;refseq.codonCoord_1=287;refseq.end_1=129842401;refseq.end_2=129842401;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1028;refseq.mrnaCoord_2=1154;refseq.name2_1=STX2;refseq.name2_2=STX2;refseq.name_1=NM_001980;refseq.name_2=NM_194356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.S287S;refseq.referenceAA_1=Ser;refseq.referenceCodon_1=TCC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=129842401;refseq.start_2=129842401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantCodon_1=TCA;set=Intersection GT 1/1 chr12 129872267 . C G 270.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=6096.71;QD=46.90;RankSumP=1.00000;SB=-1572.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.125G>C;refseq.codingCoordStr_2=c.125G>C;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=129872267;refseq.end_2=129872267;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=292;refseq.mrnaCoord_2=292;refseq.name2_1=STX2;refseq.name2_2=STX2;refseq.name_1=NM_001980;refseq.name_2=NM_194356;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S42T;refseq.proteinCoordStr_2=p.S42T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=129872267;refseq.start_2=129872267;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr12 130022033 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.265T>G;refseq.codonCoord=89;refseq.end=130022033;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_198827;refseq.name2=GPR133;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y89D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-46;refseq.start=130022033;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr12 130032515 . T C 205.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=11.27;MQ=98.66;MQ0=0;OQ=7439.85;QD=40.00;RankSumP=1.00000;SB=-2271.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.444T>C;refseq.codonCoord=148;refseq.end=130032515;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_198827;refseq.name2=GPR133;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y148Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-47;refseq.start=130032515;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr12 130186541 . A G 140.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=4.10;MQ=98.60;MQ0=0;OQ=4300.28;QD=34.40;RankSumP=1.00000;SB=-1625.97;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2274A>G;refseq.codonCoord=758;refseq.end=130186541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2833;refseq.name=NM_198827;refseq.name2=GPR133;refseq.positionType=CDS;refseq.proteinCoordStr=p.T758T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=130186541;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr12 130188688 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=7.62;MQ=97.43;MQ0=0;OQ=477.34;QD=8.52;RankSumP=0.176162;SB=-179.61;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2490T>C;refseq.codonCoord=830;refseq.end=130188688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3049;refseq.name=NM_198827;refseq.name2=GPR133;refseq.positionType=CDS;refseq.proteinCoordStr=p.S830S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-40;refseq.start=130188688;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr12 130189721 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2585G>C;refseq.codonCoord=862;refseq.end=130189721;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3144;refseq.name=NM_198827;refseq.name2=GPR133;refseq.positionType=CDS;refseq.proteinCoordStr=p.S862T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=56;refseq.start=130189721;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr12 130803801 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=17.38;MQ=98.17;MQ0=0;OQ=3398.55;QD=31.18;RankSumP=1.00000;SB=-1221.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1262T>C;refseq.codonCoord=421;refseq.end=130803801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_004592;refseq.name2=SFRS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L421P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-61;refseq.start=130803801;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr12 130837066 . T C 344.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1253.97;QD=36.88;RankSumP=1.00000;SB=-542.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2514T>C;refseq.codonCoord=838;refseq.end=130837066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2654;refseq.name=NM_004592;refseq.name2=SFRS8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S838S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-21;refseq.start=130837066;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr12 130891192 . G A 105.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=6.23;MQ=98.73;MQ0=0;OQ=3938.45;QD=27.54;RankSumP=1.00000;SB=-1290.25;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.544G>A;refseq.codonCoord=182;refseq.end=130891192;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_016155;refseq.name2=MMP17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A182T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=122;refseq.start=130891192;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr12 130895619 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=98.01;MQ0=0;OQ=2134.39;QD=12.86;RankSumP=0.0474110;SB=-475.13;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.972C>T;refseq.codonCoord=324;refseq.end=130895619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_016155;refseq.name2=MMP17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P324P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=130895619;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr12 130901525 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.66743e-05;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1565T>G;refseq.codonCoord=522;refseq.end=130901525;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_016155;refseq.name2=MMP17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V522G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=103;refseq.start=130901525;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr12 130962556 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=99.00;MQ0=0;OQ=532.85;QD=10.25;RankSumP=0.523337;SB=-204.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1065C>T;refseq.codonCoord=355;refseq.end=130962556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1333;refseq.name=NM_003565;refseq.name2=ULK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D355D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-32;refseq.start=130962556;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr12 130967973 . T C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=97.47;MQ0=0;OQ=767.40;QD=34.88;RankSumP=1.00000;SB=-312.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.2247T>C;refseq.codonCoord=749;refseq.end=130967973;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2515;refseq.name=NM_003565;refseq.name2=ULK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P749P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=65;refseq.start=130967973;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr12 130969114 . A G 266.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.27;MQ0=0;OQ=1479.08;QD=33.62;RankSumP=1.00000;SB=-736.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2446A>G;refseq.codonCoord=816;refseq.end=130969114;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2714;refseq.name=NM_003565;refseq.name2=ULK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T816A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-66;refseq.start=130969114;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr12 131030293 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.62712e-09;SecondBestBaseQ=11;refseq.chr=chr12;refseq.codingCoordStr=c.1432+2;refseq.end=131030293;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=131030293;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr12 131071651 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4519A>C;refseq.codonCoord=1507;refseq.end=131071651;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4628;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1507P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=75;refseq.start=131071651;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr12 131074342 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=3.10;MQ=98.94;MQ0=0;OQ=2867.77;QD=11.34;RankSumP=0.485276;SB=-791.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4755A>G;refseq.codonCoord=1585;refseq.end=131074342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4864;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1585P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=68;refseq.start=131074342;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr12 131080241 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=98.84;MQ0=0;OQ=495.75;QD=8.85;RankSumP=0.703819;SB=-158.75;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.5421C>G;refseq.codonCoord=1807;refseq.end=131080241;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5530;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1807S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=43;refseq.start=131080241;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr12 131088486 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=99.00;MQ0=0;OQ=512.23;QD=19.70;RankSumP=0.140145;SB=-243.23;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6096C>T;refseq.codonCoord=2032;refseq.end=131088486;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6205;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2032P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=36;refseq.start=131088486;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr12 131113043 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.743139;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.8175A>G;refseq.codonCoord=2725;refseq.end=131113043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8284;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2725Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=80;refseq.start=131113043;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr12 131113046 . A G 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.506338;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.8178A>G;refseq.codonCoord=2726;refseq.end=131113046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8287;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2726Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=83;refseq.start=131113046;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr12 131113049 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.0852096;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.8181G>A;refseq.codonCoord=2727;refseq.end=131113049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8290;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2727Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=86;refseq.start=131113049;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr12 131113115 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=7.66;MQ=97.32;MQ0=1;OQ=1291.86;QD=13.46;RankSumP=0.0225955;SB=-281.21;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.8247G>A;refseq.codonCoord=2749;refseq.end=131113115;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8356;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2749T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-85;refseq.start=131113115;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr12 131115253 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=11.00;MQ=98.49;MQ0=0;OQ=1381.80;QD=10.63;RankSumP=0.235879;SB=-458.05;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.8419A>G;refseq.codonCoord=2807;refseq.end=131115253;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8528;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2807A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=88;refseq.start=131115253;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr12 131128079 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=99.00;MQ0=0;OQ=671.50;QD=18.15;RankSumP=0.458050;SB=-199.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.9277G>A;refseq.codonCoord=3093;refseq.end=131128079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9386;refseq.name=NM_015409;refseq.name2=EP400;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3093T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=181;refseq.start=131128079;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr12 131190648 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=162;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=98.41;MQ0=0;OQ=2099.75;QD=12.96;RankSumP=0.0465140;SB=-1037.46;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1723G>C;refseq.codonCoord=575;refseq.end=131190648;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1762;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.E575Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=50;refseq.start=131190648;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr12 131191837 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=85;Dels=0.00;HRun=1;HaplotypeScore=17.78;MQ=95.87;MQ0=0;OQ=1076.61;QD=12.67;RankSumP=0.344908;SB=-125.98;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1186G>A;refseq.codonCoord=396;refseq.end=131191837;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.E396K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-65;refseq.start=131191837;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr12 131192378 . G A 132.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.83;MQ0=0;OQ=700.11;QD=17.08;RankSumP=0.342008;SB=-321.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.965C>T;refseq.codonCoord=322;refseq.end=131192378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1004;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.A322V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-31;refseq.start=131192378;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr12 131192621 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=96.45;MQ0=0;OQ=1069.63;QD=12.15;RankSumP=0.232683;SB=-397.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.884A>G;refseq.codonCoord=295;refseq.end=131192621;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q295R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=131192621;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr12 131194234 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.114286;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.478G>A;refseq.codonCoord=160;refseq.end=131194234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=517;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.G160S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-42;refseq.start=131194234;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr12 131194238 . G A 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.585714;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.474C>T;refseq.codonCoord=158;refseq.end=131194238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_175066;refseq.name2=DDX51;refseq.positionType=CDS;refseq.proteinCoordStr=p.V158V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-46;refseq.start=131194238;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr12 131248434 . T G 182.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=2.36;MQ=97.77;MQ0=0;OQ=3380.38;QD=36.35;RankSumP=1.00000;SB=-1230.15;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1521A>C;refseq.codingCoordStr_2=c.423A>C;refseq.codonCoord_1=507;refseq.codonCoord_2=141;refseq.end_1=131248434;refseq.end_2=131248434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1637;refseq.mrnaCoord_2=701;refseq.name2_1=GALNT9;refseq.name2_2=GALNT9;refseq.name_1=NM_001122636;refseq.name_2=NM_021808;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G507G;refseq.proteinCoordStr_2=p.G141G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=131248434;refseq.start_2=131248434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr12 131248437 . A G 308.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.97;MQ0=0;OQ=3072.03;QD=33.39;RankSumP=1.00000;SB=-1027.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1518T>C;refseq.codingCoordStr_2=c.420T>C;refseq.codonCoord_1=506;refseq.codonCoord_2=140;refseq.end_1=131248437;refseq.end_2=131248437;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1634;refseq.mrnaCoord_2=698;refseq.name2_1=GALNT9;refseq.name2_2=GALNT9;refseq.name_1=NM_001122636;refseq.name_2=NM_021808;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D506D;refseq.proteinCoordStr_2=p.D140D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=131248437;refseq.start_2=131248437;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr12 131249723 . C T 102.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=18.55;MQ=98.51;MQ0=0;OQ=4959.11;QD=17.59;RankSumP=0.0210839;SB=-1434.93;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1446G>A;refseq.codingCoordStr_2=c.348G>A;refseq.codonCoord_1=482;refseq.codonCoord_2=116;refseq.end_1=131249723;refseq.end_2=131249723;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1562;refseq.mrnaCoord_2=626;refseq.name2_1=GALNT9;refseq.name2_2=GALNT9;refseq.name_1=NM_001122636;refseq.name_2=NM_021808;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A482A;refseq.proteinCoordStr_2=p.A116A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=131249723;refseq.start_2=131249723;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr12 131706524 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.chr_6=chr12;refseq.codingCoordStr_2=c.331A>C;refseq.codingCoordStr_3=c.403A>C;refseq.codingCoordStr_4=c.403A>C;refseq.codingCoordStr_5=c.127A>C;refseq.codingCoordStr_6=c.403A>C;refseq.codonCoord_2=111;refseq.codonCoord_3=135;refseq.codonCoord_4=135;refseq.codonCoord_5=43;refseq.codonCoord_6=135;refseq.end_1=131706648;refseq.end_2=131706524;refseq.end_3=131706524;refseq.end_4=131706524;refseq.end_5=131706524;refseq.end_6=131706524;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=331;refseq.mrnaCoord_3=403;refseq.mrnaCoord_4=403;refseq.mrnaCoord_5=127;refseq.mrnaCoord_6=403;refseq.name2_1=P2RX2;refseq.name2_2=P2RX2;refseq.name2_3=P2RX2;refseq.name2_4=P2RX2;refseq.name2_5=P2RX2;refseq.name2_6=P2RX2;refseq.name_1=NM_012226;refseq.name_2=NM_016318;refseq.name_3=NM_170682;refseq.name_4=NM_170683;refseq.name_5=NM_174872;refseq.name_6=NM_174873;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.T111P;refseq.proteinCoordStr_3=p.T135P;refseq.proteinCoordStr_4=p.T135P;refseq.proteinCoordStr_5=p.T43P;refseq.proteinCoordStr_6=p.T135P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.spliceDist_5=22;refseq.spliceDist_6=22;refseq.start_1=131706244;refseq.start_2=131706524;refseq.start_3=131706524;refseq.start_4=131706524;refseq.start_5=131706524;refseq.start_6=131706524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 0/1 chr12 131706669 . T C 100.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.08;MQ0=0;OQ=818.35;QD=35.58;RankSumP=1.00000;SB=-313.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.chr_6=chr12;refseq.codingCoordStr_1=c.252T>C;refseq.codingCoordStr_2=c.396T>C;refseq.codingCoordStr_3=c.468T>C;refseq.codingCoordStr_4=c.468T>C;refseq.codingCoordStr_5=c.192T>C;refseq.codingCoordStr_6=c.468T>C;refseq.codonCoord_1=84;refseq.codonCoord_2=132;refseq.codonCoord_3=156;refseq.codonCoord_4=156;refseq.codonCoord_5=64;refseq.codonCoord_6=156;refseq.end_1=131706669;refseq.end_2=131706669;refseq.end_3=131706669;refseq.end_4=131706669;refseq.end_5=131706669;refseq.end_6=131706669;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=252;refseq.mrnaCoord_2=396;refseq.mrnaCoord_3=468;refseq.mrnaCoord_4=468;refseq.mrnaCoord_5=192;refseq.mrnaCoord_6=468;refseq.name2_1=P2RX2;refseq.name2_2=P2RX2;refseq.name2_3=P2RX2;refseq.name2_4=P2RX2;refseq.name2_5=P2RX2;refseq.name2_6=P2RX2;refseq.name_1=NM_012226;refseq.name_2=NM_016318;refseq.name_3=NM_170682;refseq.name_4=NM_170683;refseq.name_5=NM_174872;refseq.name_6=NM_174873;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.T84T;refseq.proteinCoordStr_2=p.T132T;refseq.proteinCoordStr_3=p.T156T;refseq.proteinCoordStr_4=p.T156T;refseq.proteinCoordStr_5=p.T64T;refseq.proteinCoordStr_6=p.T156T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.referenceCodon_6=ACT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.spliceDist_5=11;refseq.spliceDist_6=11;refseq.start_1=131706669;refseq.start_2=131706669;refseq.start_3=131706669;refseq.start_4=131706669;refseq.start_5=131706669;refseq.start_6=131706669;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;set=Intersection GT 1/1 chr12 131711385 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.6832C>G;refseq.codonCoord=2278;refseq.end=131711385;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6876;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2278V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=85;refseq.start=131711385;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr12 131719052 . T C 254.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=3391.76;QD=38.54;RankSumP=1.00000;SB=-491.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.6252A>G;refseq.codonCoord=2084;refseq.end=131719052;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6296;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2084S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-79;refseq.start=131719052;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr12 131729327 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4790C>G;refseq.codonCoord=1597;refseq.end=131729327;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4834;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1597G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=62;refseq.start=131729327;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr12 131729904 . T C 412.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.87;MQ0=0;OQ=6025.84;QD=36.97;RankSumP=1.00000;SB=-1512.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.4530A>G;refseq.codonCoord=1510;refseq.end=131729904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4574;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1510A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=131729904;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr12 131730599 . T C 170.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=622;Dels=0.00;HRun=0;HaplotypeScore=12.91;MQ=98.25;MQ0=0;OQ=12444.09;QD=20.01;RankSumP=0.333678;SB=-4446.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.4187A>G;refseq.codonCoord=1396;refseq.end=131730599;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4231;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1396S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=38;refseq.start=131730599;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr12 131746073 . C T 314.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=98.48;MQ0=0;OQ=8325.48;QD=40.41;RankSumP=1.00000;SB=-3985.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.3156G>A;refseq.codonCoord=1052;refseq.end=131746073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3200;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1052T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=96;refseq.start=131746073;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr12 131751968 . G A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.370173;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.2461C>T;refseq.codonCoord=821;refseq.end=131751968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2505;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.R821C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=131751968;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/0 chr12 131767910 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.76;MQ0=0;OQ=522.29;QD=11.11;RankSumP=0.180666;SB=-250.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.91G>T;refseq.codonCoord=31;refseq.end=131767910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_006231;refseq.name2=POLE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A31S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=29;refseq.start=131767910;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr12 131805447 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_3=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.codingCoordStr_3=c.746A>G;refseq.codonCoord_3=249;refseq.end_1=131807326;refseq.end_2=131807326;refseq.end_3=131805447;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=816;refseq.name2_1=PGAM5;refseq.name2_2=PGAM5;refseq.name2_3=PGAM5;refseq.name_1=NM_001170543;refseq.name_2=NM_001170544;refseq.name_3=NM_138575;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D249G;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAT;refseq.spliceDist_3=27;refseq.start_1=131804790;refseq.start_2=131804790;refseq.start_3=131805447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGT;set=FilteredInAll GT 0/1 chr12 131834505 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.1216A>C;refseq.codonCoord=406;refseq.end=131834505;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1283;refseq.name=NM_015114;refseq.name2=ANKLE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T406P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=131834505;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr12 131841532 . G C 198.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.75;MQ0=0;OQ=1764.46;QD=21.01;RankSumP=0.423179;SB=-548.80;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.442C>G;refseq.codonCoord=148;refseq.end=131841532;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_015114;refseq.name2=ANKLE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q148E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-199;refseq.start=131841532;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr12 131867485 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=2;HaplotypeScore=4.46;MQ=98.68;MQ0=0;OQ=1979.00;QD=15.96;RankSumP=0.320720;SB=-964.56;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.3554A>G;refseq.codonCoord=1185;refseq.end=131867485;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4113;refseq.name=NM_005895;refseq.name2=GOLGA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1185R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-29;refseq.start=131867485;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr12 131873079 . G A 90.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=95.64;MQ0=0;OQ=1814.99;QD=33.61;RankSumP=1.00000;SB=-801.54;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.3042C>T;refseq.codingCoordStr_2=c.3042C>T;refseq.codonCoord_1=1014;refseq.codonCoord_2=1014;refseq.end_1=131873079;refseq.end_2=131873079;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3263;refseq.mrnaCoord_2=3601;refseq.name2_1=GOLGA3;refseq.name2_2=GOLGA3;refseq.name_1=NM_001172557;refseq.name_2=NM_005895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1014L;refseq.proteinCoordStr_2=p.L1014L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=131873079;refseq.start_2=131873079;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr12 131900009 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.476A>G;refseq.codingCoordStr_2=c.476A>G;refseq.codonCoord_1=159;refseq.codonCoord_2=159;refseq.end_1=131900009;refseq.end_2=131900009;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=1035;refseq.name2_1=GOLGA3;refseq.name2_2=GOLGA3;refseq.name_1=NM_001172557;refseq.name_2=NM_005895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E159G;refseq.proteinCoordStr_2=p.E159G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=131900009;refseq.start_2=131900009;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr12 131903308 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.297T>G;refseq.codingCoordStr_2=c.297T>G;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=131903308;refseq.end_2=131903308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=518;refseq.mrnaCoord_2=856;refseq.name2_1=GOLGA3;refseq.name2_2=GOLGA3;refseq.name_1=NM_001172557;refseq.name_2=NM_005895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G99G;refseq.proteinCoordStr_2=p.G99G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.start_1=131903308;refseq.start_2=131903308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr12 131938315 . G A 367.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.25;MQ0=0;OQ=3134.76;QD=34.83;RankSumP=1.00000;SB=-1032.67;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.codingCoordStr_1=c.1490C>T;refseq.codingCoordStr_2=c.1487C>T;refseq.codingCoordStr_3=c.1454C>T;refseq.codingCoordStr_4=c.1214C>T;refseq.codingCoordStr_5=c.1367C>T;refseq.codonCoord_1=497;refseq.codonCoord_2=496;refseq.codonCoord_3=485;refseq.codonCoord_4=405;refseq.codonCoord_5=456;refseq.end_1=131938315;refseq.end_2=131938315;refseq.end_3=131938315;refseq.end_4=131938315;refseq.end_5=131938315;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1574;refseq.mrnaCoord_2=1571;refseq.mrnaCoord_3=1538;refseq.mrnaCoord_4=1298;refseq.mrnaCoord_5=1451;refseq.name2_1=CHFR;refseq.name2_2=CHFR;refseq.name2_3=CHFR;refseq.name2_4=CHFR;refseq.name2_5=CHFR;refseq.name_1=NM_001161344;refseq.name_2=NM_001161345;refseq.name_3=NM_001161346;refseq.name_4=NM_001161347;refseq.name_5=NM_018223;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A497V;refseq.proteinCoordStr_2=p.A496V;refseq.proteinCoordStr_3=p.A485V;refseq.proteinCoordStr_4=p.A405V;refseq.proteinCoordStr_5=p.A456V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.spliceDist_5=-39;refseq.start_1=131938315;refseq.start_2=131938315;refseq.start_3=131938315;refseq.start_4=131938315;refseq.start_5=131938315;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/1 chr12 131943246 . T C 235.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=7879.52;QD=37.88;RankSumP=1.00000;SB=-3936.52;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.chr_3=chr12;refseq.chr_4=chr12;refseq.chr_5=chr12;refseq.codingCoordStr_1=c.1146A>G;refseq.codingCoordStr_2=c.1146A>G;refseq.codingCoordStr_3=c.1110A>G;refseq.codingCoordStr_4=c.870A>G;refseq.codingCoordStr_5=c.1023A>G;refseq.codonCoord_1=382;refseq.codonCoord_2=382;refseq.codonCoord_3=370;refseq.codonCoord_4=290;refseq.codonCoord_5=341;refseq.end_1=131943246;refseq.end_2=131943246;refseq.end_3=131943246;refseq.end_4=131943246;refseq.end_5=131943246;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1230;refseq.mrnaCoord_3=1194;refseq.mrnaCoord_4=954;refseq.mrnaCoord_5=1107;refseq.name2_1=CHFR;refseq.name2_2=CHFR;refseq.name2_3=CHFR;refseq.name2_4=CHFR;refseq.name2_5=CHFR;refseq.name_1=NM_001161344;refseq.name_2=NM_001161345;refseq.name_3=NM_001161346;refseq.name_4=NM_001161347;refseq.name_5=NM_018223;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R382R;refseq.proteinCoordStr_2=p.R382R;refseq.proteinCoordStr_3=p.R370R;refseq.proteinCoordStr_4=p.R290R;refseq.proteinCoordStr_5=p.R341R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.referenceCodon_5=AGA;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.spliceDist_5=44;refseq.start_1=131943246;refseq.start_2=131943246;refseq.start_3=131943246;refseq.start_4=131943246;refseq.start_5=131943246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;refseq.variantCodon_5=AGG;set=Intersection GT 1/1 chr12 132098053 . C T 228.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=2061.13;QD=21.47;RankSumP=0.223895;SB=-791.68;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.1515C>T;refseq.codonCoord=505;refseq.end=132098053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1886;refseq.name=NM_019591;refseq.name2=ZNF26;refseq.positionType=CDS;refseq.proteinCoordStr=p.T505T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1174;refseq.start=132098053;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr12 132144301 . T C 194.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.15;MQ0=0;OQ=2462.91;QD=16.42;RankSumP=0.220625;SB=-993.24;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.927T>C;refseq.codingCoordStr_2=c.927T>C;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=132144301;refseq.end_2=132144301;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1278;refseq.mrnaCoord_2=1364;refseq.name2_1=ZNF84;refseq.name2_2=ZNF84;refseq.name_1=NM_001127372;refseq.name_2=NM_003428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H309H;refseq.proteinCoordStr_2=p.H309H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=689;refseq.spliceDist_2=689;refseq.start_1=132144301;refseq.start_2=132144301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr12 132144523 . A C 340.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.72;MQ0=0;OQ=6762.81;QD=40.99;RankSumP=1.00000;SB=-2794.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1149A>C;refseq.codingCoordStr_2=c.1149A>C;refseq.codonCoord_1=383;refseq.codonCoord_2=383;refseq.end_1=132144523;refseq.end_2=132144523;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1500;refseq.mrnaCoord_2=1586;refseq.name2_1=ZNF84;refseq.name2_2=ZNF84;refseq.name_1=NM_001127372;refseq.name_2=NM_003428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A383A;refseq.proteinCoordStr_2=p.A383A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=911;refseq.spliceDist_2=911;refseq.start_1=132144523;refseq.start_2=132144523;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr12 132145023 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=2;HaplotypeScore=11.13;MQ=98.84;MQ0=0;OQ=4303.22;QD=20.39;RankSumP=0.315291;SB=-1844.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1649A>G;refseq.codingCoordStr_2=c.1649A>G;refseq.codonCoord_1=550;refseq.codonCoord_2=550;refseq.end_1=132145023;refseq.end_2=132145023;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2000;refseq.mrnaCoord_2=2086;refseq.name2_1=ZNF84;refseq.name2_2=ZNF84;refseq.name_1=NM_001127372;refseq.name_2=NM_003428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K550R;refseq.proteinCoordStr_2=p.K550R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=1411;refseq.spliceDist_2=1411;refseq.start_1=132145023;refseq.start_2=132145023;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr12 132145219 . T C 181.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.86;MQ0=0;OQ=1929.11;QD=15.81;RankSumP=0.376262;SB=-987.42;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr12;refseq.chr_2=chr12;refseq.codingCoordStr_1=c.1845T>C;refseq.codingCoordStr_2=c.1845T>C;refseq.codonCoord_1=615;refseq.codonCoord_2=615;refseq.end_1=132145219;refseq.end_2=132145219;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2196;refseq.mrnaCoord_2=2282;refseq.name2_1=ZNF84;refseq.name2_2=ZNF84;refseq.name_1=NM_001127372;refseq.name_2=NM_003428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I615I;refseq.proteinCoordStr_2=p.I615I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=1607;refseq.spliceDist_2=1607;refseq.start_1=132145219;refseq.start_2=132145219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr12 132192728 . A G 233.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.64;MQ0=0;OQ=1994.15;QD=14.88;RankSumP=0.493333;SB=-884.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.792A>G;refseq.codonCoord=264;refseq.end=132192728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1462;refseq.name=NM_003440;refseq.name2=ZNF140;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q264Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=560;refseq.start=132192728;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr12 132238558 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=150;Dels=0.00;HRun=3;HaplotypeScore=3.66;MQ=98.87;MQ0=0;OQ=2101.59;QD=14.01;RankSumP=0.115324;SB=-531.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr12;refseq.codingCoordStr=c.251A>C;refseq.codonCoord=84;refseq.end=132238558;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_015394;refseq.name2=ZNF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H84P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=132238558;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr12 132242697 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=99.00;MQ0=0;OQ=2365.23;QD=19.23;RankSumP=0.201693;SB=-953.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr12;refseq.codingCoordStr=c.792C>T;refseq.codonCoord=264;refseq.end=132242697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_015394;refseq.name2=ZNF10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P264P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=536;refseq.start=132242697;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr13 18646038 . C T 122.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=86.07;MQ0=1;OQ=3007.48;QD=13.80;RankSumP=0.304237;SB=-1249.58;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1318G>A;refseq.codonCoord=440;refseq.end=18646038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V440M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-121;refseq.start=18646038;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr13 18649229 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1004;Dels=0.00;HRun=1;HaplotypeScore=18.09;MQ=71.12;MQ0=42;OQ=13146.70;QD=13.09;RankSumP=0.0535298;SB=-4607.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.894A>G;refseq.codonCoord=298;refseq.end=18649229;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P298P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-163;refseq.start=18649229;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr13 18649262 rs1052318 G A 10.32 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=798;Dels=0.00;HRun=0;HaplotypeScore=25.23;MQ=79.14;MQ0=31;QD=0.01;SB=-1.54;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.861C>T;refseq.codonCoord=287;refseq.end=18649262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S287S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-196;refseq.start=18649262;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:710,85:670:-206.09,-201.82,-2374.46:42.74 chr13 18649657 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=12.09;MQ=45.53;MQ0=45;OQ=2231.86;QD=7.86;RankSumP=0.427725;SB=-687.15;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.466C>A;refseq.codonCoord=156;refseq.end=18649657;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R156R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=91;refseq.start=18649657;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr13 18649694 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=10.69;MQ=69.31;MQ0=40;OQ=1908.82;QD=7.89;RankSumP=0.0367514;SB=-751.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.429T>C;refseq.codonCoord=143;refseq.end=18649694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G143G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=54;refseq.start=18649694;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr13 18651554 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=522;Dels=0.00;HRun=0;HaplotypeScore=18.58;MQ=62.87;MQ0=136;OQ=2493.22;QD=4.78;RankSumP=0.000308946;SB=-1108.53;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.153G>A;refseq.codonCoord=51;refseq.end=18651554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T51T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-74;refseq.start=18651554;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr13 18651575 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=0;HaplotypeScore=9.74;MQ=63.15;MQ0=68;OQ=4731.12;QD=8.81;RankSumP=0.107379;SB=-1296.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.132T>C;refseq.codonCoord=44;refseq.end=18651575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_006001;refseq.name2=TUBA3C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G44G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-95;refseq.start=18651575;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr13 18897107 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.399576;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.1113G>A;refseq.codingCoordStr_2=c.1215G>A;refseq.codingCoordStr_3=c.1446G>A;refseq.codonCoord_1=371;refseq.codonCoord_2=405;refseq.codonCoord_3=482;refseq.end_1=18897107;refseq.end_2=18897107;refseq.end_3=18897107;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1426;refseq.mrnaCoord_3=1657;refseq.name2_1=TPTE2;refseq.name2_2=TPTE2;refseq.name2_3=TPTE2;refseq.name_1=NM_001141968;refseq.name_2=NM_130785;refseq.name_3=NM_199254;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T371T;refseq.proteinCoordStr_2=p.T405T;refseq.proteinCoordStr_3=p.T482T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=18897107;refseq.start_2=18897107;refseq.start_3=18897107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=FilteredInAll GT 0/1 chr13 18898630 . T C 315.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=96.76;MQ0=2;OQ=12022.48;QD=41.74;RankSumP=1.00000;SB=-4066.32;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.997A>G;refseq.codingCoordStr_2=c.1099A>G;refseq.codingCoordStr_3=c.1330A>G;refseq.codonCoord_1=333;refseq.codonCoord_2=367;refseq.codonCoord_3=444;refseq.end_1=18898630;refseq.end_2=18898630;refseq.end_3=18898630;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1400;refseq.mrnaCoord_2=1310;refseq.mrnaCoord_3=1541;refseq.name2_1=TPTE2;refseq.name2_2=TPTE2;refseq.name2_3=TPTE2;refseq.name_1=NM_001141968;refseq.name_2=NM_130785;refseq.name_3=NM_199254;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I333V;refseq.proteinCoordStr_2=p.I367V;refseq.proteinCoordStr_3=p.I444V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=18898630;refseq.start_2=18898630;refseq.start_3=18898630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr13 18904639 . T A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.420562;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.863A>T;refseq.codingCoordStr_2=c.965A>T;refseq.codingCoordStr_3=c.1196A>T;refseq.codonCoord_1=288;refseq.codonCoord_2=322;refseq.codonCoord_3=399;refseq.end_1=18904639;refseq.end_2=18904639;refseq.end_3=18904639;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1266;refseq.mrnaCoord_2=1176;refseq.mrnaCoord_3=1407;refseq.name2_1=TPTE2;refseq.name2_2=TPTE2;refseq.name2_3=TPTE2;refseq.name_1=NM_001141968;refseq.name_2=NM_130785;refseq.name_3=NM_199254;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K288I;refseq.proteinCoordStr_2=p.K322I;refseq.proteinCoordStr_3=p.K399I;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=18904639;refseq.start_2=18904639;refseq.start_3=18904639;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=soap GT 1/0 chr13 18964994 . T C 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.412584;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.115A>G;refseq.codingCoordStr_2=c.115A>G;refseq.codingCoordStr_3=c.115A>G;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.end_1=18964994;refseq.end_2=18964994;refseq.end_3=18964994;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=518;refseq.mrnaCoord_2=326;refseq.mrnaCoord_3=326;refseq.name2_1=TPTE2;refseq.name2_2=TPTE2;refseq.name2_3=TPTE2;refseq.name_1=NM_001141968;refseq.name_2=NM_130785;refseq.name_3=NM_199254;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K39E;refseq.proteinCoordStr_2=p.K39E;refseq.proteinCoordStr_3=p.K39E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=18964994;refseq.start_2=18964994;refseq.start_3=18964994;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=soap GT 1/0 chr13 18965011 . A C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=549;Dels=0.00;HRun=2;HaplotypeScore=3.28;MQ=24.67;MQ0=170;OQ=301.95;QD=0.55;RankSumP=0.338476;SB=99.31;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.98T>G;refseq.codingCoordStr_2=c.98T>G;refseq.codingCoordStr_3=c.98T>G;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.codonCoord_3=33;refseq.end_1=18965011;refseq.end_2=18965011;refseq.end_3=18965011;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=501;refseq.mrnaCoord_2=309;refseq.mrnaCoord_3=309;refseq.name2_1=TPTE2;refseq.name2_2=TPTE2;refseq.name2_3=TPTE2;refseq.name_1=NM_001141968;refseq.name_2=NM_130785;refseq.name_3=NM_199254;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L33R;refseq.proteinCoordStr_2=p.L33R;refseq.proteinCoordStr_3=p.L33R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=18965011;refseq.start_2=18965011;refseq.start_3=18965011;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=soap-filterIngatk GT 0/1 chr13 19118696 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.414703;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.483A>G;refseq.codonCoord=161;refseq.end=19118696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=584;refseq.name=NM_017520;refseq.name2=MPHOSPH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E161E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=114;refseq.start=19118696;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chr13 19122387 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=689;Dels=0.00;HRun=1;HaplotypeScore=24.52;MQ=98.52;MQ0=0;OQ=11321.40;QD=16.43;RankSumP=0.0122457;SB=-3768.14;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1563A>G;refseq.codonCoord=521;refseq.end=19122387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_017520;refseq.name2=MPHOSPH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A521A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-14;refseq.start=19122387;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr13 19175413 . T C 19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=38.10;MQ=30.70;MQ0=130;OQ=6217.23;QD=12.53;RankSumP=0.00601810;SB=-2211.77;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1474A>G;refseq.codonCoord_2=492;refseq.end_1=19202368;refseq.end_2=19175413;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1660;refseq.name2_1=PSPC1;refseq.name2_2=PSPC1;refseq.name_1=NR_003272;refseq.name_2=NM_001042414;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M492V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=88;refseq.start_1=19149974;refseq.start_2=19175413;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 1/0 chr13 19223466 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1355;Dels=0.00;HRun=0;HaplotypeScore=22.27;MQ=46.96;MQ0=855;OQ=9798.83;QD=7.23;RankSumP=0.431160;SB=-3245.92;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.912G>A;refseq.codonCoord_2=304;refseq.end_1=19223466;refseq.end_2=19223466;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1098;refseq.mrnaCoord_2=1098;refseq.name2_1=PSPC1;refseq.name2_2=PSPC1;refseq.name_1=NR_003272;refseq.name_2=NM_001042414;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L304L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=19223466;refseq.start_2=19223466;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTA;set=soap-filterIngatk GT 0/1 chr13 19309701 . C T 306.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.68;MQ0=0;OQ=4262.55;QD=16.52;RankSumP=0.379377;SB=-1541.02;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.*220G>A;refseq.codingCoordStr_3=c.1133G>A;refseq.codonCoord_3=378;refseq.end_1=19309785;refseq.end_2=19309701;refseq.end_3=19309701;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1112;refseq.mrnaCoord_3=1398;refseq.name2_1=ZMYM5;refseq.name2_2=ZMYM5;refseq.name2_3=ZMYM5;refseq.name_1=NM_001142684;refseq.name_2=NM_001039649;refseq.name_3=NM_001039650;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R378H;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGT;refseq.spliceDist_2=-108;refseq.spliceDist_3=-108;refseq.start_1=19307840;refseq.start_2=19309701;refseq.start_3=19309701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=His;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr13 19311021 . T C 139.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=620;Dels=0.00;HRun=0;HaplotypeScore=17.09;MQ=98.51;MQ0=0;OQ=13226.62;QD=21.33;RankSumP=0.388248;SB=-3227.41;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.691A>G;refseq.codingCoordStr_3=c.691A>G;refseq.codonCoord_2=231;refseq.codonCoord_3=231;refseq.end_1=19323484;refseq.end_2=19311021;refseq.end_3=19311021;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=956;refseq.mrnaCoord_3=956;refseq.name2_1=ZMYM5;refseq.name2_2=ZMYM5;refseq.name2_3=ZMYM5;refseq.name_1=NM_001039649;refseq.name_2=NM_001039650;refseq.name_3=NM_001142684;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T231A;refseq.proteinCoordStr_3=p.T231A;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_2=105;refseq.spliceDist_3=105;refseq.start_1=19309972;refseq.start_2=19311021;refseq.start_3=19311021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr13 19323911 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=4;HaplotypeScore=3.33;MQ=98.84;MQ0=0;OQ=2741.40;QD=13.50;RankSumP=0.000117923;SB=-815.52;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.410G>T;refseq.codingCoordStr_2=c.410G>T;refseq.codingCoordStr_3=c.410G>T;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.codonCoord_3=137;refseq.end_1=19323911;refseq.end_2=19323911;refseq.end_3=19323911;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=675;refseq.mrnaCoord_2=675;refseq.mrnaCoord_3=675;refseq.name2_1=ZMYM5;refseq.name2_2=ZMYM5;refseq.name2_3=ZMYM5;refseq.name_1=NM_001039649;refseq.name_2=NM_001039650;refseq.name_3=NM_001142684;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C137F;refseq.proteinCoordStr_2=p.C137F;refseq.proteinCoordStr_3=p.C137F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.spliceDist_3=-83;refseq.start_1=19323911;refseq.start_2=19323911;refseq.start_3=19323911;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=filterInsoap-gatk GT 1/0 chr13 19323948 . T C 173.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=1767.89;QD=13.10;RankSumP=0.443180;SB=-796.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.373A>G;refseq.codingCoordStr_2=c.373A>G;refseq.codingCoordStr_3=c.373A>G;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.codonCoord_3=125;refseq.end_1=19323948;refseq.end_2=19323948;refseq.end_3=19323948;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=638;refseq.mrnaCoord_3=638;refseq.name2_1=ZMYM5;refseq.name2_2=ZMYM5;refseq.name2_3=ZMYM5;refseq.name_1=NM_001039649;refseq.name_2=NM_001039650;refseq.name_3=NM_001142684;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I125V;refseq.proteinCoordStr_2=p.I125V;refseq.proteinCoordStr_3=p.I125V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.spliceDist_3=-120;refseq.start_1=19323948;refseq.start_2=19323948;refseq.start_3=19323948;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr13 19661221 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.500T>G;refseq.codonCoord=167;refseq.end=19661221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_004004;refseq.name2=GJB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V167G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=522;refseq.start=19661221;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 19961524 . A G 280.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.71;MQ0=0;OQ=4535.45;QD=15.43;RankSumP=0.165007;SB=-1525.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.261T>C;refseq.codonCoord=87;refseq.end=19961524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_015974;refseq.name2=CRYL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G87G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-16;refseq.start=19961524;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr13 19984599 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1142.83;QD=11.78;RankSumP=0.00407155;SB=-425.90;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.132C>T;refseq.codonCoord=44;refseq.end=19984599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_015974;refseq.name2=CRYL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N44N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-18;refseq.start=19984599;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/0 chr13 20103192 . G A 126.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=10.29;MQ=96.71;MQ0=0;OQ=10918.28;QD=42.99;RankSumP=1.00000;SB=-4983.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1337G>A;refseq.codingCoordStr_2=c.1364G>A;refseq.codonCoord_1=446;refseq.codonCoord_2=455;refseq.end_1=20103192;refseq.end_2=20103192;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1531;refseq.mrnaCoord_2=1760;refseq.name2_1=IFT88;refseq.name2_2=IFT88;refseq.name_1=NM_006531;refseq.name_2=NM_175605;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S446N;refseq.proteinCoordStr_2=p.S455N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=20103192;refseq.start_2=20103192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr13 20259137 . G C 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=28;Dels=0.00;HRun=2;HaplotypeScore=2.72;MQ=95.92;MQ0=0;QD=1.78;RankSumP=0.500001;SB=29.13;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3225C>G;refseq.codonCoord=1075;refseq.end=20259137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3261;refseq.name=NM_022459;refseq.name2=XPO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1075G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-34;refseq.start=20259137;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr13 20460832 . C T 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=97.94;MQ0=0;OQ=993.17;QD=28.38;RankSumP=1.00000;SB=-373.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1087G>A;refseq.codonCoord=363;refseq.end=20460832;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1529;refseq.name=NM_014572;refseq.name2=LATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G363S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=612;refseq.start=20460832;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr13 20460948 . G A 250.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=280.73;QD=35.09;RankSumP=1.00000;SB=-52.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.971C>T;refseq.codonCoord=324;refseq.end=20460948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1413;refseq.name=NM_014572;refseq.name2=LATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A324V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=496;refseq.start=20460948;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr13 20518085 . T C 292.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=9.94;MQ=98.65;MQ0=0;OQ=10150.04;QD=39.49;RankSumP=1.00000;SB=-4747.55;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.81A>G;refseq.codonCoord=27;refseq.end=20518085;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_014572;refseq.name2=LATS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K27K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-262;refseq.start=20518085;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr13 20618956 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=94.68;MQ0=0;OQ=1667.15;QD=18.32;RankSumP=0.484461;SB=-117.95;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=20618956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_005870;refseq.name2=SAP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T84T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=13;refseq.start=20618956;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr13 20627951 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.15045e-06;SecondBestBaseQ=12;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1120-1;refseq.end_1=20630050;refseq.end_2=20627951;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_2=-1;refseq.spliceInfo_2=splice-acceptor_-1;refseq.start_1=20627300;refseq.start_2=20627951;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 1/0 chr13 20627952 . T A 50 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=12;RankSumP=2.57319e-06;SecondBestBaseQ=21;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1120-2;refseq.end_1=20630050;refseq.end_2=20627952;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_2=-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.start_1=20627300;refseq.start_2=20627952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 1/0 chr13 20630060 . C G 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=11.10;MQ=96.85;MQ0=0;OQ=108.31;QD=1.15;SB=-13.33;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1119+1;refseq.codingCoordStr_2=c.1119+1;refseq.end_1=20630060;refseq.end_2=20630060;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-donor_1;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=20630060;refseq.start_2=20630060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:79,15:78:-37.61,-23.50,-306.98:99 chr13 20630094 . C T 367.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=97.73;MQ0=0;OQ=10156.33;QD=42.67;RankSumP=1.00000;SB=-3209.83;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1086G>A;refseq.codingCoordStr_2=c.1086G>A;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.end_1=20630094;refseq.end_2=20630094;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1211;refseq.mrnaCoord_2=1211;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P362P;refseq.proteinCoordStr_2=p.P362P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=20630094;refseq.start_2=20630094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr13 20630266 . T A 37.49 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.34;MQ0=0;QD=0.83;SB=19.54;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.916-2;refseq.codingCoordStr_2=c.916-2;refseq.end_1=20630266;refseq.end_2=20630266;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.start_1=20630266;refseq.start_2=20630266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:38,7:42:-19.68,-12.65,-147.65:70.33 chr13 20640311 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=566;Dels=0.00;HRun=0;HaplotypeScore=20.52;MQ=98.64;MQ0=0;OQ=7673.19;QD=13.56;RankSumP=0.404246;SB=-2859.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.559G>A;refseq.codingCoordStr_2=c.559G>A;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.end_1=20640311;refseq.end_2=20640311;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=684;refseq.mrnaCoord_2=684;refseq.name2_1=SKA3;refseq.name2_2=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_145061;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V187I;refseq.proteinCoordStr_2=p.V187I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-185;refseq.spliceDist_2=-185;refseq.start_1=20640311;refseq.start_2=20640311;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr13 20648538 . G A 10 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=96.22;MQ0=0;OQ=155.21;QD=4.19;RankSumP=0.381391;SB=-93.58;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.79C>T;refseq.codingCoordStr_2=c.-324G>A;refseq.codingCoordStr_3=c.79C>T;refseq.codonCoord_1=27;refseq.codonCoord_3=27;refseq.end_1=20648538;refseq.end_2=20648538;refseq.end_3=20648538;refseq.frame_1=0;refseq.frame_3=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=204;refseq.mrnaCoord_2=167;refseq.mrnaCoord_3=204;refseq.name2_1=SKA3;refseq.name2_2=MRP63;refseq.name2_3=SKA3;refseq.name_1=NM_001166017;refseq.name_2=NM_024026;refseq.name_3=NM_145061;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R27*;refseq.proteinCoordStr_3=p.R27*;refseq.referenceAA_1=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=-25;refseq.spliceDist_2=167;refseq.spliceDist_3=-25;refseq.start_1=20648538;refseq.start_2=20648538;refseq.start_3=20648538;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_3=TGA;set=FilteredInAll GT 1/0 chr13 20975136 . G T 0.03 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=88;Dels=0.00;HRun=1;HaplotypeScore=9.70;MQ=97.29;MQ0=0;OQ=145.89;QD=1.66;RankSumP=0.00000;SB=80.28;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.862C>A;refseq.codonCoord=288;refseq.end=20975136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_152726;refseq.name2=EFHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L288I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-72;refseq.start=20975136;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 0/1 chr13 21076258 . C T 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=93.38;MQ0=0;OQ=73.77;QD=9.22;RankSumP=0.721429;SB=-3.98;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.30G>A;refseq.codonCoord=10;refseq.end=21076258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_152726;refseq.name2=EFHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R10R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=98;refseq.start=21076258;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr13 21144317 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.266A>C;refseq.codonCoord=89;refseq.end=21144317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1103;refseq.name=NM_002010;refseq.name2=FGF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H89P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-12;refseq.start=21144317;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 21173394 . A G 404.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.80;MQ0=0;OQ=9203.20;QD=37.56;RankSumP=1.00000;SB=-2659.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.447A>G;refseq.codonCoord=149;refseq.end=21173394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1284;refseq.name=NM_002010;refseq.name2=FGF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S149S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=66;refseq.start=21173394;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr13 22675927 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.94A>G;refseq.codonCoord=32;refseq.end=22675927;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_000231;refseq.name2=SGCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=94;refseq.start=22675927;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr13 22706782 . T C 252.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=97.62;MQ0=0;OQ=2754.26;QD=14.81;RankSumP=0.246262;SB=-1145.93;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=22706782;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_000231;refseq.name2=SGCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.D76D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=33;refseq.start=22706782;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr13 22722783 . T G 441.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.59;MQ0=0;OQ=7656.65;QD=40.30;RankSumP=1.00000;SB=-1909.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.312T>G;refseq.codonCoord=104;refseq.end=22722783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_000231;refseq.name2=SGCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=15;refseq.start=22722783;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr13 22796509 . T C 353.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.67;MQ0=0;OQ=5307.95;QD=20.49;RankSumP=0.344205;SB=-1661.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.705T>C;refseq.codonCoord=235;refseq.end=22796509;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_000231;refseq.name2=SGCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L235L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=22796509;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr13 22796664 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=23.30;MQ=98.57;MQ0=0;OQ=2903.10;QD=9.25;RankSumP=0.315723;SB=-1027.61;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.860A>G;refseq.codonCoord=287;refseq.end=22796664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_000231;refseq.name2=SGCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.N287S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=158;refseq.start=22796664;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr13 22805677 . C T 216.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.51;MQ0=0;OQ=16045.78;QD=42.56;RankSumP=1.00000;SB=-5760.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.10338G>A;refseq.codonCoord=3446;refseq.end=22805677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10927;refseq.name=NM_014363;refseq.name2=SACS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3446Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4713;refseq.start=22805677;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr13 22806034 . A G 156.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=8.84;MQ=98.82;MQ0=0;OQ=6420.05;QD=18.66;RankSumP=0.272183;SB=-2665.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.9981T>C;refseq.codonCoord=3327;refseq.end=22806034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10570;refseq.name=NM_014363;refseq.name2=SACS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3327A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-5070;refseq.start=22806034;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr13 22809182 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.6833T>G;refseq.codonCoord=2278;refseq.end=22809182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7422;refseq.name=NM_014363;refseq.name2=SACS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2278G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=4648;refseq.start=22809182;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr13 22826671 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.81;MQ0=0;OQ=1339.49;QD=12.52;RankSumP=0.376276;SB=-634.61;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2080G>A;refseq.codonCoord=694;refseq.end=22826671;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2669;refseq.name=NM_014363;refseq.name2=SACS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A694T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-14;refseq.start=22826671;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr13 23065505 . T A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=2;HaplotypeScore=2.19;MQ=98.44;MQ0=0;OQ=15661.41;QD=40.57;RankSumP=1.00000;SB=-3167.34;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.91T>A;refseq.codingCoordStr_2=c.91T>A;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=23065505;refseq.end_2=23065505;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=390;refseq.name2_1=TNFRSF19;refseq.name2_2=TNFRSF19;refseq.name_1=NM_018647;refseq.name_2=NM_148957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S31T;refseq.proteinCoordStr_2=p.S31T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=23065505;refseq.start_2=23065505;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr13 23132517 . A G 120.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=97.71;MQ0=0;OQ=1885.96;QD=11.94;RankSumP=0.429782;SB=-920.09;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.624A>G;refseq.codingCoordStr_2=c.624A>G;refseq.codonCoord_1=208;refseq.codonCoord_2=208;refseq.end_1=23132517;refseq.end_2=23132517;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=688;refseq.mrnaCoord_2=923;refseq.name2_1=TNFRSF19;refseq.name2_2=TNFRSF19;refseq.name_1=NM_018647;refseq.name_2=NM_148957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S208S;refseq.proteinCoordStr_2=p.S208S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=23132517;refseq.start_2=23132517;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr13 23141200 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=16.68;MQ=98.10;MQ0=0;OQ=1489.86;QD=8.56;RankSumP=0.388943;SB=-531.49;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1209T>C;refseq.codingCoordStr_2=c.1209T>C;refseq.codonCoord_1=403;refseq.codonCoord_2=403;refseq.end_1=23141200;refseq.end_2=23141200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1273;refseq.mrnaCoord_2=1508;refseq.name2_1=TNFRSF19;refseq.name2_2=TNFRSF19;refseq.name_1=NM_018647;refseq.name_2=NM_148957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G403G;refseq.proteinCoordStr_2=p.G403G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-213;refseq.spliceDist_2=-37;refseq.start_1=23141200;refseq.start_2=23141200;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr13 23141211 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=155;Dels=0.00;HRun=3;HaplotypeScore=9.74;MQ=98.20;MQ0=0;OQ=55.35;QD=0.36;RankSumP=0.00000;SB=155.53;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1220A>C;refseq.codingCoordStr_2=c.1220A>C;refseq.codonCoord_1=407;refseq.codonCoord_2=407;refseq.end_1=23141211;refseq.end_2=23141211;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1284;refseq.mrnaCoord_2=1519;refseq.name2_1=TNFRSF19;refseq.name2_2=TNFRSF19;refseq.name_1=NM_018647;refseq.name_2=NM_148957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H407P;refseq.proteinCoordStr_2=p.H407P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-202;refseq.spliceDist_2=-26;refseq.start_1=23141211;refseq.start_2=23141211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr13 23228751 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=326;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=98.78;MQ0=0;OQ=6272.03;QD=19.24;RankSumP=0.172242;SB=-1552.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1977C>T;refseq.codonCoord=659;refseq.end=23228751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2077;refseq.name=NM_005932;refseq.name2=MIPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A659A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=23228751;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr13 23309772 . T C 310.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=5.97;MQ=98.97;MQ0=0;OQ=6630.76;QD=41.18;RankSumP=1.00000;SB=-2948.86;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1462A>G;refseq.codonCoord=488;refseq.end=23309772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1562;refseq.name=NM_005932;refseq.name2=MIPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S488G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-82;refseq.start=23309772;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr13 23363717 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=25.79;MQ=33.34;MQ0=276;OQ=882.32;QD=1.61;RankSumP=0.182261;SB=170.76;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_3=c.713T>C;refseq.codonCoord_3=238;refseq.end_1=23363741;refseq.end_2=23363741;refseq.end_3=23363717;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=713;refseq.name2_1=PCOTH;refseq.name2_2=PCOTH;refseq.name2_3=C1QTNF9B;refseq.name_1=NM_001135816;refseq.name_2=NM_001014442;refseq.name_3=NM_001007537;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V238A;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_3=-290;refseq.start_1=23363600;refseq.start_2=23363681;refseq.start_3=23363717;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCG;set=soap-filterIngatk GT 0/1 chr13 23363743 . A G 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=9.54;MQ=25.09;MQ0=273;OQ=3545.60;QD=8.30;RankSumP=1.00000;SB=-1238.08;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.687T>C;refseq.codingCoordStr_2=c.6-9;refseq.codingCoordStr_3=c.33-9;refseq.codonCoord_1=229;refseq.end_1=23363743;refseq.end_2=23363743;refseq.end_3=23363743;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=687;refseq.name2_1=C1QTNF9B;refseq.name2_2=PCOTH;refseq.name2_3=PCOTH;refseq.name_1=NM_001007537;refseq.name_2=NM_001014442;refseq.name_3=NM_001135816;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.proteinCoordStr_1=p.N229N;refseq.referenceAA_1=Asn;refseq.referenceCodon_1=AAT;refseq.spliceDist_1=-316;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_2=splice-acceptor_-9;refseq.spliceInfo_3=splice-acceptor_-9;refseq.start_1=23363743;refseq.start_2=23363743;refseq.start_3=23363743;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantCodon_1=AAC;set=Intersection GT 1/1 chr13 23366329 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.367137;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.178T>C;refseq.codonCoord=60;refseq.end=23366329;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_001007537;refseq.name2=C1QTNF9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C60R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=12;refseq.start=23366329;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 0/1 chr13 23369039 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=692;Dels=0.00;HRun=0;HaplotypeScore=21.29;MQ=39.36;MQ0=559;OQ=1941.18;QD=2.81;RankSumP=0.187461;SB=-237.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.87A>C;refseq.codonCoord=29;refseq.end=23369039;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=87;refseq.name=NM_001007537;refseq.name2=C1QTNF9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G29G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-80;refseq.start=23369039;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr13 23369048 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=700;Dels=0.00;HRun=0;HaplotypeScore=27.44;MQ=42.57;MQ0=545;OQ=2479.49;QD=3.54;RankSumP=0.0126109;SB=-425.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.78G>A;refseq.codonCoord=26;refseq.end=23369048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_001007537;refseq.name2=C1QTNF9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G26G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=78;refseq.start=23369048;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr13 23774752 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=286;Dels=0.00;HRun=3;HaplotypeScore=17.25;MQ=98.17;MQ0=0;OQ=2950.44;QD=10.32;RankSumP=0.0331628;SB=-849.80;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.3675T>C;refseq.codingCoordStr_2=c.1800T>C;refseq.codonCoord_1=1225;refseq.codonCoord_2=600;refseq.end_1=23774752;refseq.end_2=23774752;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3997;refseq.mrnaCoord_2=2233;refseq.name2_1=SPATA13;refseq.name2_2=SPATA13;refseq.name_1=NM_001166271;refseq.name_2=NM_153023;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1225P;refseq.proteinCoordStr_2=p.P600P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=23774752;refseq.start_2=23774752;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr13 23788228 . A C 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.328433;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.87A>C;refseq.codonCoord=29;refseq.end=23788228;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_178540;refseq.name2=C1QTNF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G29G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-80;refseq.start=23788228;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr13 23790967 . C T 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.400124;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.178C>T;refseq.codonCoord=60;refseq.end=23790967;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_178540;refseq.name2=C1QTNF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R60C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=12;refseq.start=23790967;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr13 23793240 . G A 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.336G>A;refseq.codonCoord=112;refseq.end=23793240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_178540;refseq.name2=C1QTNF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K112K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=107;refseq.start=23793240;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/1 chr13 23793559 . A G 291.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=20.38;MQ0=175;OQ=5477.80;QD=14.89;RankSumP=1.00000;SB=-739.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.655A>G;refseq.codonCoord=219;refseq.end=23793559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_178540;refseq.name2=C1QTNF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.M219V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=426;refseq.start=23793559;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr13 23793684 . A G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=555;Dels=0.00;HRun=1;HaplotypeScore=21.46;MQ=22.29;MQ0=384;OQ=4583.83;QD=8.26;RankSumP=1.00000;SB=-1398.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.780A>G;refseq.codonCoord=260;refseq.end=23793684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_178540;refseq.name2=C1QTNF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R260R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=551;refseq.start=23793684;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr13 23893256 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.349327;SecondBestBaseQ=33;refseq.chr=chr13;refseq.codingCoordStr=c.*1G>A;refseq.end=23893256;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=5282;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=utr3;refseq.spliceDist=-188;refseq.start=23893256;refseq.transcriptStrand=-;set=soap GT 0/1 chr13 23893275 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0333728;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.5157C>T;refseq.codonCoord=1719;refseq.end=23893275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5263;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1719L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=178;refseq.start=23893275;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 1/0 chr13 23906588 . A G 305.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=91.01;MQ0=0;OQ=11050.30;QD=41.70;RankSumP=1.00000;SB=-5320.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4691T>C;refseq.codonCoord=1564;refseq.end=23906588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4797;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1564T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-56;refseq.start=23906588;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr13 23906630 . A G 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=2;HaplotypeScore=3.13;MQ=97.80;MQ0=0;OQ=10657.26;QD=38.06;RankSumP=1.00000;SB=-4945.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4649T>C;refseq.codonCoord=1550;refseq.end=23906630;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4755;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1550P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-98;refseq.start=23906630;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr13 23906903 . G T 27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=79.70;MQ0=12;OQ=1727.94;QD=25.79;RankSumP=1.00000;SB=-503.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4376C>A;refseq.codonCoord=1459;refseq.end=23906903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4482;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1459Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-371;refseq.start=23906903;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr13 23907099 . A C 437.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=97.30;MQ0=0;OQ=2960.10;QD=37.95;RankSumP=1.00000;SB=-1346.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4180T>G;refseq.codonCoord=1394;refseq.end=23907099;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4286;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1394A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=514;refseq.start=23907099;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr13 23914762 . G A 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.435363;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3509C>T;refseq.codonCoord=1170;refseq.end=23914762;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3615;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1170I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-35;refseq.start=23914762;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 1/0 chr13 23918863 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.06;MQ0=0;OQ=9612.24;QD=42.91;RankSumP=1.00000;SB=-3682.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3322C>T;refseq.codonCoord=1108;refseq.end=23918863;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3428;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1108C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=37;refseq.start=23918863;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr13 23919154 rs61947037 C T 1495.12 HARD_TO_VALIDATE;Indel AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=69.94;MQ0=9;QD=29.90;SB=-225.34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3285G>A;refseq.codonCoord=1095;refseq.end=23919154;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3391;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1095Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=23919154;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:5,45:41:-164.57,-12.35,-11.61:7.36 chr13 23919200 . A C 88.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=61.70;MQ0=46;OQ=2475.72;QD=22.71;RankSumP=1.00000;SB=-403.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3239T>G;refseq.codonCoord=1080;refseq.end=23919200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3345;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1080R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-47;refseq.start=23919200;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr13 23919201 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=113;Dels=0.00;HRun=3;HaplotypeScore=0.73;MQ=61.95;MQ0=47;OQ=76.23;QD=0.67;RankSumP=0.579899;SB=35.14;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3238C>T;refseq.codonCoord=1080;refseq.end=23919201;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3344;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1080F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-48;refseq.start=23919201;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap-filterIngatk GT 1/0 chr13 23919211 . C T 168.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=59.73;MQ0=47;OQ=2128.73;QD=17.59;RankSumP=0.269976;SB=-731.49;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3228G>A;refseq.codonCoord=1076;refseq.end=23919211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3334;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1076P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-58;refseq.start=23919211;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr13 23919245 . A G 316.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=67.11;MQ0=28;OQ=2831.74;QD=17.92;RankSumP=0.0111199;SB=-1300.77;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3194T>C;refseq.codonCoord=1065;refseq.end=23919245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1065A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=80;refseq.start=23919245;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr13 23919263 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=176;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=71.93;MQ0=14;OQ=1060.49;QD=6.03;RankSumP=0.150904;SB=-497.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3176A>G;refseq.codonCoord=1059;refseq.end=23919263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3282;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1059R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=62;refseq.start=23919263;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr13 23919323 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=69.53;MQ0=7;OQ=616.56;QD=5.46;RankSumP=0.159870;SB=-196.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3116T>C;refseq.codonCoord=1039;refseq.end=23919323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3222;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1039T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=23919323;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 0/1 chr13 23921936 . C T 342.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=8.92;MQ=84.81;MQ0=25;OQ=4394.09;QD=17.37;RankSumP=0.102468;SB=-1552.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3034G>A;refseq.codonCoord=1012;refseq.end=23921936;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3140;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1012I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=20;refseq.start=23921936;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr13 23925744 . A G 142.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=546;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.54;MQ0=0;OQ=20826.40;QD=38.14;RankSumP=1.00000;SB=-8866.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2807T>C;refseq.codonCoord=936;refseq.end=23925744;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2913;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M936T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-20;refseq.start=23925744;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr13 23927218 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1174;Dels=0.00;HRun=0;HaplotypeScore=6.41;MQ=98.81;MQ0=0;OQ=23025.24;QD=19.61;RankSumP=0.000209759;SB=-8644.31;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2695G>A;refseq.codonCoord=899;refseq.end=23927218;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2801;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A899T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-64;refseq.start=23927218;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr13 23927295 . C T 190.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=472;Dels=0.00;HRun=1;HaplotypeScore=6.21;MQ=98.93;MQ0=0;OQ=10812.69;QD=22.91;RankSumP=0.398412;SB=-1784.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2618G>A;refseq.codonCoord=873;refseq.end=23927295;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2724;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S873N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=56;refseq.start=23927295;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr13 23931200 . T A 160.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=2153.45;QD=18.10;RankSumP=0.283519;SB=-843.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2406A>T;refseq.codonCoord=802;refseq.end=23931200;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2512;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T802T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-19;refseq.start=23931200;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr13 23931227 . A G 296.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.86;MQ0=0;OQ=2184.40;QD=17.62;RankSumP=0.412371;SB=-958.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2379T>C;refseq.codonCoord=793;refseq.end=23931227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2485;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y793Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=34;refseq.start=23931227;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr13 23949844 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.199501;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1784T>A;refseq.codonCoord=595;refseq.end=23949844;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1890;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V595D;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=23949844;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 0/1 chr13 23949918 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.464136;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1710G>A;refseq.codonCoord=570;refseq.end=23949918;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1816;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q570Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=78;refseq.start=23949918;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr13 23949935 . A G 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.399993;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1693T>C;refseq.codonCoord=565;refseq.end=23949935;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1799;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S565P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=61;refseq.start=23949935;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr13 23950261 . C T 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=16.81;MQ=73.51;MQ0=55;OQ=9028.72;QD=28.13;RankSumP=1.00000;SB=-4122.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1602G>A;refseq.codonCoord=534;refseq.end=23950261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S534S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-31;refseq.start=23950261;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr13 23950393 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=278;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=76.55;MQ0=10;OQ=691.64;QD=2.49;RankSumP=0.209394;SB=-239.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1470C>A;refseq.codonCoord=490;refseq.end=23950393;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1576;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H490Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=22;refseq.start=23950393;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr13 23956797 . G A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.427902;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1442C>T;refseq.codonCoord=481;refseq.end=23956797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1548;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S481L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=23956797;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr13 23958313 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=225;Dels=0.00;HRun=1;HaplotypeScore=3.23;MQ=85.28;MQ0=0;OQ=4595.31;QD=20.42;RankSumP=0.436864;SB=-1201.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1345T>C;refseq.codonCoord=449;refseq.end=23958313;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L449L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=23958313;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr13 23958330 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.366366;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1328A>G;refseq.codonCoord=443;refseq.end=23958330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1434;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q443R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-25;refseq.start=23958330;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=soap GT 1/0 chr13 23958331 . G A 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.353591;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1327C>T;refseq.codonCoord=443;refseq.end=23958331;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1433;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q443*;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-26;refseq.start=23958331;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap GT 1/0 chr13 23966808 . A T 252.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=2388.93;QD=17.31;RankSumP=0.440662;SB=-931.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.644T>A;refseq.codonCoord=215;refseq.end=23966808;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F215Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=53;refseq.start=23966808;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr13 23972490 . C T 196.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.66;MQ0=0;OQ=2313.42;QD=19.77;RankSumP=0.188798;SB=-1103.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.365G>A;refseq.codonCoord=122;refseq.end=23972490;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S122N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=31;refseq.start=23972490;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr13 23973859 . C T 294.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.83;MQ0=0;OQ=13840.31;QD=42.72;RankSumP=1.00000;SB=-5046.83;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.246G>A;refseq.codonCoord=82;refseq.end=23973859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R82R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-89;refseq.start=23973859;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr13 23975795 . C T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.395803;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.120G>A;refseq.codonCoord=40;refseq.end=23975795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S40S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-13;refseq.start=23975795;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 0/1 chr13 23975856 . T C 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.477938;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.59A>G;refseq.codonCoord=20;refseq.end=23975856;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_006437;refseq.name2=PARP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q20R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=60;refseq.start=23975856;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr13 24163256 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.936A>G;refseq.codonCoord=312;refseq.end=24163256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1123;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G312G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-133;refseq.start=24163256;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 24170870 . C T 345.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.36;MQ0=0;OQ=7329.62;QD=38.99;RankSumP=1.00000;SB=-2703.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1587C>T;refseq.codonCoord=529;refseq.end=24170870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1774;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I529I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=75;refseq.start=24170870;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr13 24178603 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr13;refseq.codingCoordStr=c.2169+2;refseq.end=24178603;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=24178603;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr13 24181590 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=7.62633e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2582A>C;refseq.codonCoord=861;refseq.end=24181590;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2769;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N861T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-36;refseq.start=24181590;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr13 24183479 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=3.08995e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3023T>G;refseq.codonCoord=1008;refseq.end=24183479;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3210;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1008G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=24;refseq.start=24183479;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 24183637 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3097T>G;refseq.codonCoord=1033;refseq.end=24183637;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3284;refseq.name=NM_001676;refseq.name2=ATP12A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1033G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=24183637;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 24265371 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1127T>C;refseq.codonCoord=376;refseq.end=24265371;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_031277;refseq.name2=RNF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.F376S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-114;refseq.start=24265371;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr13 24276476 . A G 413.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=3775.22;QD=38.13;RankSumP=1.00000;SB=-1658.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2000A>G;refseq.codonCoord=667;refseq.end=24276476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2041;refseq.name=NM_031277;refseq.name2=RNF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.H667R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=51;refseq.start=24276476;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr13 24317176 . A G 304.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=6.58;MQ=98.65;MQ0=0;OQ=7952.17;QD=39.17;RankSumP=1.00000;SB=-3164.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3060A>G;refseq.codonCoord=1020;refseq.end=24317176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3101;refseq.name=NM_031277;refseq.name2=RNF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1020T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-42;refseq.start=24317176;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr13 24338318 . G A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.50;MQ0=0;OQ=10420.54;QD=43.24;RankSumP=1.00000;SB=-4724.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4138G>A;refseq.codonCoord=1380;refseq.end=24338318;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4179;refseq.name=NM_031277;refseq.name2=RNF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1380K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-24;refseq.start=24338318;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr13 24364828 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3169G>A;refseq.codonCoord=1057;refseq.end=24364828;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3422;refseq.name=NM_018451;refseq.name2=CENPJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1057K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-48;refseq.start=24364828;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr13 24378627 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1549T>G;refseq.codonCoord=517;refseq.end=24378627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1802;refseq.name=NM_018451;refseq.name2=CENPJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.W517G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=472;refseq.start=24378627;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 24569369 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1033G>A;refseq.codonCoord=345;refseq.end=24569369;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_030979;refseq.name2=PABPC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E345K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1094;refseq.start=24569369;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr13 24723889 . T C 343.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.63;MQ0=0;OQ=2019.77;QD=37.40;RankSumP=1.00000;SB=-427.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1503A>G;refseq.codonCoord=501;refseq.end=24723889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1822;refseq.name=NM_004685;refseq.name2=MTMR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q501Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=25;refseq.start=24723889;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr13 24729888 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=98.35;MQ0=0;OQ=6842.85;QD=30.69;RankSumP=1.00000;SB=-317.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.955A>G;refseq.codonCoord=319;refseq.end=24729888;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1274;refseq.name=NM_004685;refseq.name2=MTMR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I319V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-15;refseq.start=24729888;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr13 24740016 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=431;Dels=0.00;HRun=0;HaplotypeScore=8.59;MQ=98.66;MQ0=0;OQ=9101.75;QD=21.12;RankSumP=0.460177;SB=-3514.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.205G>C;refseq.codonCoord=69;refseq.end=24740016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_004685;refseq.name2=MTMR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=64;refseq.start=24740016;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr13 24774011 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=97.96;MQ0=0;OQ=503.29;QD=10.49;RankSumP=0.200816;SB=-43.64;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.100G>A;refseq.codingCoordStr_2=c.100G>A;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=24774011;refseq.end_2=24774011;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=346;refseq.mrnaCoord_2=346;refseq.name2_1=NUPL1;refseq.name2_2=NUPL1;refseq.name_1=NM_001008564;refseq.name_2=NM_014089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A34T;refseq.proteinCoordStr_2=p.A34T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=24774011;refseq.start_2=24774011;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr13 24780049 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.213A>C;refseq.codingCoordStr_2=c.213A>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=24780049;refseq.end_2=24780049;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=459;refseq.mrnaCoord_2=459;refseq.name2_1=NUPL1;refseq.name2_2=NUPL1;refseq.name_1=NM_001008564;refseq.name_2=NM_014089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K71N;refseq.proteinCoordStr_2=p.K71N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=24780049;refseq.start_2=24780049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr13 24785790 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.439A>C;refseq.codingCoordStr_2=c.475A>C;refseq.codonCoord_1=147;refseq.codonCoord_2=159;refseq.end_1=24785790;refseq.end_2=24785790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=685;refseq.mrnaCoord_2=721;refseq.name2_1=NUPL1;refseq.name2_2=NUPL1;refseq.name_1=NM_001008564;refseq.name_2=NM_014089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T147P;refseq.proteinCoordStr_2=p.T159P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=24785790;refseq.start_2=24785790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr13 24844418 . C G 35.48 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=7.10;RankSumP=0.400000;SB=-28.40;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.68C>G;refseq.codonCoord=23;refseq.end=24844418;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S23W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=24844418;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr13 24941182 . A C 344.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.76;MQ0=0;OQ=4597.63;QD=17.35;RankSumP=0.305619;SB=-1664.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.144A>C;refseq.codonCoord=48;refseq.end=24941182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G48G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=68;refseq.start=24941182;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr13 25046966 . C T 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=9001.72;QD=43.70;RankSumP=1.00000;SB=-2971.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1683C>T;refseq.codonCoord=561;refseq.end=25046966;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1825;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F561F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=21;refseq.start=25046966;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr13 25051950 . G T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=7.19834e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1872G>T;refseq.codonCoord=624;refseq.end=25051950;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2014;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L624F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=25051950;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr13 25171385 . G C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=291;Dels=0.00;HRun=0;HaplotypeScore=6.57;MQ=98.78;MQ0=0;OQ=14561.70;QD=50.04;RankSumP=1.00000;SB=-3679.02;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2286G>C;refseq.codonCoord=762;refseq.end=25171385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2428;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L762L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=75;refseq.start=25171385;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr13 25171403 . C A 204.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=6.26;MQ=98.70;MQ0=0;OQ=4627.65;QD=18.51;RankSumP=0.406264;SB=-782.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2304C>A;refseq.codonCoord=768;refseq.end=25171403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2446;refseq.name=NM_016529;refseq.name2=ATP8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T768T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-81;refseq.start=25171403;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr13 25686114 . A G 317.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=98.78;MQ0=0;OQ=8548.37;QD=18.83;RankSumP=0.458261;SB=-3155.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.1905T>C;refseq.codingCoordStr_2=c.1905T>C;refseq.codingCoordStr_3=c.1905T>C;refseq.codonCoord_1=635;refseq.codonCoord_2=635;refseq.codonCoord_3=635;refseq.end_1=25686114;refseq.end_2=25686114;refseq.end_3=25686114;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2375;refseq.mrnaCoord_2=2116;refseq.mrnaCoord_3=2196;refseq.name2_1=RNF6;refseq.name2_2=RNF6;refseq.name2_3=RNF6;refseq.name_1=NM_005977;refseq.name_2=NM_183043;refseq.name_3=NM_183044;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C635C;refseq.proteinCoordStr_2=p.C635C;refseq.proteinCoordStr_3=p.C635C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-1210;refseq.spliceDist_2=-1209;refseq.spliceDist_3=-1210;refseq.start_1=25686114;refseq.start_2=25686114;refseq.start_3=25686114;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr13 26148823 . T C 321.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=12.94;MQ=98.94;MQ0=0;OQ=6151.82;QD=17.53;RankSumP=0.432144;SB=-1995.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.678T>C;refseq.codonCoord=226;refseq.end=26148823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_006646;refseq.name2=WASF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H226H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-39;refseq.start=26148823;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr13 26725961 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=208;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=96.21;MQ0=2;OQ=2524.83;QD=12.14;RankSumP=0.304531;SB=-1135.31;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.48T>C;refseq.codonCoord_2=16;refseq.end_1=26725961;refseq.end_2=26725961;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=90;refseq.mrnaCoord_2=91;refseq.name2_1=RPL21P28;refseq.name2_2=RPL21;refseq.name_1=NR_026911;refseq.name_2=NM_000982;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S16S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=26725961;refseq.start_2=26725961;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr13 26743797 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.203T>G;refseq.codonCoord=68;refseq.end=26743797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_206827;refseq.name2=RASL11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V68G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=22;refseq.start=26743797;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr13 26745166 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=10.46;MQ=98.74;MQ0=0;OQ=4814.72;QD=19.65;RankSumP=0.0342867;SB=-1035.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.264C>T;refseq.codonCoord=88;refseq.end=26745166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_206827;refseq.name2=RASL11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I88I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=26745166;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr13 26907920 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=625;Dels=0.00;HRun=0;HaplotypeScore=9.51;MQ=98.23;MQ0=0;OQ=16403.93;QD=26.25;RankSumP=0.491482;SB=-4985.25;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_1=c.729C>G;refseq.codingCoordStr_2=c.729C>G;refseq.codingCoordStr_3=c.729C>G;refseq.codingCoordStr_4=c.729C>G;refseq.codonCoord_1=243;refseq.codonCoord_2=243;refseq.codonCoord_3=243;refseq.codonCoord_4=243;refseq.end_1=26907920;refseq.end_2=26907920;refseq.end_3=26907920;refseq.end_4=26907920;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=855;refseq.mrnaCoord_2=925;refseq.mrnaCoord_3=954;refseq.mrnaCoord_4=893;refseq.name2_1=MTIF3;refseq.name2_2=MTIF3;refseq.name2_3=MTIF3;refseq.name2_4=MTIF3;refseq.name_1=NM_001166261;refseq.name_2=NM_001166262;refseq.name_3=NM_001166263;refseq.name_4=NM_152912;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F243L;refseq.proteinCoordStr_2=p.F243L;refseq.proteinCoordStr_3=p.F243L;refseq.proteinCoordStr_4=p.F243L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.spliceDist_3=111;refseq.spliceDist_4=111;refseq.start_1=26907920;refseq.start_2=26907920;refseq.start_3=26907920;refseq.start_4=26907920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=Intersection GT 0/1 chr13 27041229 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=240;Dels=0.00;HRun=2;HaplotypeScore=5.63;MQ=98.68;MQ0=0;OQ=4480.98;QD=18.67;RankSumP=0.188743;SB=-800.69;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.592T>C;refseq.codonCoord=198;refseq.end=27041229;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_153371;refseq.name2=LNX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S198P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-64;refseq.start=27041229;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr13 27137940 . G C 115.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.12;MQ0=0;OQ=1901.81;QD=20.90;RankSumP=0.462884;SB=-855.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.219G>C;refseq.codonCoord=73;refseq.end=27137940;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_152705;refseq.name2=POLR1D;refseq.positionType=CDS;refseq.proteinCoordStr=p.A73A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=118;refseq.start=27137940;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr13 27137970 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=2.89;MQ=97.93;MQ0=0;OQ=1284.36;QD=15.29;RankSumP=0.0147630;SB=-634.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.249G>A;refseq.codonCoord=83;refseq.end=27137970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_152705;refseq.name2=POLR1D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P83P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=148;refseq.start=27137970;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr13 27265061 . A G 3.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=53.84;QD=26.92;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=27265061;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_145657;refseq.name2=GSX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L78L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-179;refseq.start=27265061;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr13 27392301 . C A 30.44 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=5.07;RankSumP=0.266667;SB=-40.36;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.26C>A;refseq.codonCoord=9;refseq.end=27392301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_000209;refseq.name2=PDX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A9E;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=134;refseq.start=27392301;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr13 27435317 . G A 462.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.40;MQ0=0;OQ=3962.97;QD=39.63;RankSumP=1.00000;SB=-1831.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.877C>T;refseq.codonCoord=293;refseq.end=27435317;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1051;refseq.name=NM_001265;refseq.name2=CDX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P293S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=190;refseq.start=27435317;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr13 27509382 . T G 207.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.67;MQ0=0;OQ=6694.49;QD=20.47;RankSumP=0.450991;SB=-2693.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1249A>C;refseq.codonCoord=417;refseq.end=27509382;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_004119;refseq.name2=FLT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I417L;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=44;refseq.start=27509382;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr13 27534084 . G A 285.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=9.85;MQ=98.86;MQ0=0;OQ=14375.51;QD=39.71;RankSumP=1.00000;SB=-6076.50;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.288C>T;refseq.codonCoord=96;refseq.end=27534084;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_004119;refseq.name2=FLT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D96D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-81;refseq.start=27534084;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr13 27781061 . G A 326.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.63;MQ0=0;OQ=4297.53;QD=18.68;RankSumP=0.433121;SB=-1058.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3639C>T;refseq.codonCoord=1213;refseq.end=27781061;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3924;refseq.name=NM_002019;refseq.name2=FLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1213Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=27781061;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr13 27791642 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.76;MQ0=0;OQ=2377.01;QD=14.58;RankSumP=0.168658;SB=-958.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3204T>C;refseq.codonCoord=1068;refseq.end=27791642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3489;refseq.name=NM_002019;refseq.name2=FLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1068P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=30;refseq.start=27791642;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr13 28989714 . G A 312.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=4101.89;QD=40.61;RankSumP=1.00000;SB=-1571.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1506C>T;refseq.codonCoord=502;refseq.end=28989714;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1893;refseq.name=NM_003045;refseq.name2=SLC7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L502L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=28989714;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr13 28989819 . G C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=3;HaplotypeScore=16.11;MQ=98.39;MQ0=0;OQ=5615.81;QD=47.59;RankSumP=1.00000;SB=-2609.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1401C>G;refseq.codonCoord=467;refseq.end=28989819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1788;refseq.name=NM_003045;refseq.name2=SLC7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G467G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=109;refseq.start=28989819;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr13 29005118 . A C 44.84 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=88;Dels=0.00;HRun=2;HaplotypeScore=6.39;MQ=97.63;MQ0=0;QD=0.51;RankSumP=0.00000;SB=50.18;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.372T>G;refseq.codonCoord=124;refseq.end=29005118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_003045;refseq.name2=SLC7A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G124G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=29005118;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 29933512 . T A 45.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=62.94;MQ0=21;QD=0.90;RankSumP=0.174278;SB=-23.90;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.630A>T;refseq.codonCoord=210;refseq.end=29933512;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_002128;refseq.name2=HMGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E210D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=159;refseq.start=29933512;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 1/0 chr13 29934681 . A G 203.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=92.08;MQ0=10;OQ=10195.99;QD=33.32;RankSumP=1.00000;SB=-4270.30;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.465T>C;refseq.codonCoord=155;refseq.end=29934681;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_002128;refseq.name2=HMGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y155Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=29934681;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr13 29935445 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.305351;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.195A>G;refseq.codonCoord=65;refseq.end=29935445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_002128;refseq.name2=HMGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K65K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=45;refseq.start=29935445;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr13 30119106 . C T 285.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=2997.42;QD=16.12;RankSumP=0.365839;SB=-1498.79;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1150C>T;refseq.codonCoord=384;refseq.end=30119106;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1582;refseq.name=NM_005800;refseq.name2=USPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P384S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=38;refseq.start=30119106;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr13 30129806 . T C 176.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=578;Dels=0.00;HRun=0;HaplotypeScore=11.75;MQ=98.75;MQ0=0;OQ=9963.66;QD=17.24;RankSumP=0.247356;SB=-3998.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1592T>C;refseq.codonCoord=531;refseq.end=30129806;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2024;refseq.name=NM_005800;refseq.name2=USPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L531S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=196;refseq.start=30129806;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr13 30131063 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=732;Dels=0.00;HRun=1;HaplotypeScore=30.41;MQ=98.80;MQ0=0;OQ=15496.97;QD=21.17;RankSumP=0.367512;SB=-5036.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2849G>A;refseq.codonCoord=950;refseq.end=30131063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3281;refseq.name=NM_005800;refseq.name2=USPL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S950N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-624;refseq.start=30131063;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr13 30378827 . A G 31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=324.79;QD=27.07;RankSumP=1.00000;SB=-106.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.175A>G;refseq.codonCoord=59;refseq.end=30378827;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_032849;refseq.name2=C13orf33;refseq.positionType=CDS;refseq.proteinCoordStr=p.R59G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-104;refseq.start=30378827;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr13 30393158 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=4694.40;QD=25.65;RankSumP=0.429416;SB=-951.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.396G>A;refseq.codonCoord=132;refseq.end=30393158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_032849;refseq.name2=C13orf33;refseq.positionType=CDS;refseq.proteinCoordStr=p.T132T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=30393158;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr13 30393179 . G A 248.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=98.85;MQ0=0;OQ=4204.78;QD=16.49;RankSumP=0.227732;SB=-1256.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.417G>A;refseq.codonCoord=139;refseq.end=30393179;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_032849;refseq.name2=C13orf33;refseq.positionType=CDS;refseq.proteinCoordStr=p.T139T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=29;refseq.start=30393179;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr13 30393733 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=2783.70;QD=14.35;RankSumP=0.359837;SB=-987.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.537C>T;refseq.codonCoord=179;refseq.end=30393733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_032849;refseq.name2=C13orf33;refseq.positionType=CDS;refseq.proteinCoordStr=p.P179P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=36;refseq.start=30393733;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr13 30623260 . A G 236.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1589.75;QD=17.86;RankSumP=0.423830;SB=-678.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.732T>C;refseq.codonCoord=244;refseq.end=30623260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_006644;refseq.name2=HSPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F244F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=69;refseq.start=30623260;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr13 30627729 . A G 266.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=16.97;MQ=98.96;MQ0=0;OQ=6607.72;QD=19.32;RankSumP=0.257180;SB=-2286.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=30627729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_006644;refseq.name2=HSPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N76N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=63;refseq.start=30627729;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr13 30719992 . T C 363.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=2360.12;QD=40.00;RankSumP=1.00000;SB=-547.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.348T>C;refseq.codonCoord=116;refseq.end=30719992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_194318;refseq.name2=B3GALTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H116H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=30719992;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr13 30795911 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=1.90020e-08;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1208T>G;refseq.codonCoord=403;refseq.end=30795911;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1318;refseq.name=NM_194318;refseq.name2=B3GALTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V403G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=24;refseq.start=30795911;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr13 31233880 . G A 255.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=1;HaplotypeScore=6.37;MQ=98.79;MQ0=0;OQ=6441.60;QD=18.95;RankSumP=0.0141153;SB=-2170.43;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.261G>A;refseq.codingCoordStr_2=c.261G>A;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=31233880;refseq.end_2=31233880;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=332;refseq.mrnaCoord_2=332;refseq.name2_1=RXFP2;refseq.name2_2=RXFP2;refseq.name_1=NM_001166058;refseq.name_2=NM_130806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A87A;refseq.proteinCoordStr_2=p.A87A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=31233880;refseq.start_2=31233880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr13 31250714 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=123;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=99.00;MQ0=0;OQ=1947.72;QD=15.84;RankSumP=0.169680;SB=-769.67;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.779A>G;refseq.codingCoordStr_2=c.779A>G;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=31250714;refseq.end_2=31250714;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=850;refseq.mrnaCoord_2=850;refseq.name2_1=RXFP2;refseq.name2_2=RXFP2;refseq.name_1=NM_001166058;refseq.name_2=NM_130806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N260S;refseq.proteinCoordStr_2=p.N260S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=31250714;refseq.start_2=31250714;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr13 31258547 . A G 235.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.77;MQ0=0;OQ=12380.63;QD=42.11;RankSumP=1.00000;SB=-6170.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.885A>G;refseq.codingCoordStr_2=c.957A>G;refseq.codonCoord_1=295;refseq.codonCoord_2=319;refseq.end_1=31258547;refseq.end_2=31258547;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=956;refseq.mrnaCoord_2=1028;refseq.name2_1=RXFP2;refseq.name2_2=RXFP2;refseq.name_1=NM_001166058;refseq.name_2=NM_130806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E295E;refseq.proteinCoordStr_2=p.E319E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=31258547;refseq.start_2=31258547;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr13 31574114 . A G 337.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=98.50;MQ0=0;OQ=4205.52;QD=20.32;RankSumP=0.0810122;SB=-1407.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.285A>G;refseq.codonCoord=95;refseq.end=31574114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.T95T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=15;refseq.start=31574114;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr13 31645654 . C A 265.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=7179.36;QD=18.13;RankSumP=0.215927;SB=-1999.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2302C>A;refseq.codonCoord=768;refseq.end=31645654;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2798;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.R768R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-33;refseq.start=31645654;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr13 31674153 . T C 201.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=9.34;MQ=98.79;MQ0=0;OQ=10280.75;QD=20.40;RankSumP=0.388079;SB=-3452.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3822T>C;refseq.codonCoord=1274;refseq.end=31674153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4318;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1274Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-25;refseq.start=31674153;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr13 31674603 . T C 300.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.97;MQ0=0;OQ=3033.49;QD=16.22;RankSumP=0.248520;SB=-1343.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3957T>C;refseq.codonCoord=1319;refseq.end=31674603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4453;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1319L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-62;refseq.start=31674603;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr13 31674616 . T A 169.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=5.64;MQ=98.95;MQ0=0;OQ=4127.58;QD=19.66;RankSumP=0.161042;SB=-1487.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3970T>A;refseq.codonCoord=1324;refseq.end=31674616;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4466;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1324S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-49;refseq.start=31674616;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr13 31683086 . G A 160.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=243;Dels=0.00;HRun=1;HaplotypeScore=9.84;MQ=98.55;MQ0=0;OQ=5263.96;QD=21.66;RankSumP=0.0959288;SB=-1989.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4506G>A;refseq.codonCoord=1502;refseq.end=31683086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5002;refseq.name=NM_023037;refseq.name2=FRY;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1502E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=84;refseq.start=31683086;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr13 31809888 . A G 228.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.90;MQ0=0;OQ=4029.06;QD=22.26;RankSumP=0.265485;SB=-965.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3396A>G;refseq.codonCoord=1132;refseq.end=31809888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3623;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1132K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1487;refseq.start=31809888;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr13 31811055 . A G 428.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.92;MQ0=0;OQ=5434.10;QD=39.38;RankSumP=1.00000;SB=-2505.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4563A>G;refseq.codonCoord=1521;refseq.end=31811055;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4790;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1521L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-2279;refseq.start=31811055;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr13 31812168 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.5676T>G;refseq.codonCoord=1892;refseq.end=31812168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5903;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1892G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-1166;refseq.start=31812168;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 31813005 . G C 201.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=6991.28;QD=48.89;RankSumP=1.00000;SB=-3055.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.6513G>C;refseq.codonCoord=2171;refseq.end=31813005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6740;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2171V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-329;refseq.start=31813005;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr13 31827232 . A G 139.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=16.98;MQ=98.94;MQ0=0;OQ=2489.18;QD=15.96;RankSumP=0.104232;SB=-740.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.7242A>G;refseq.codonCoord=2414;refseq.end=31827232;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7469;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2414S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-194;refseq.start=31827232;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr13 31827387 . T C 352.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7655.12;QD=42.29;RankSumP=1.00000;SB=-3742.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.7397T>C;refseq.codonCoord=2466;refseq.end=31827387;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7624;refseq.name=NM_000059;refseq.name2=BRCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2466A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-39;refseq.start=31827387;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr13 32130435 . A G 429.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3459.03;QD=40.22;RankSumP=1.00000;SB=-1576.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.372A>G;refseq.codonCoord=124;refseq.end=32130435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_015032;refseq.name2=PDS5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q124Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-28;refseq.start=32130435;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr13 32182147 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2027G>T;refseq.codonCoord=676;refseq.end=32182147;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2185;refseq.name=NM_015032;refseq.name2=PDS5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C676F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=65;refseq.start=32182147;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr13 32488851 . T C 183.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.63;MQ0=0;OQ=1480.88;QD=34.44;RankSumP=1.00000;SB=-427.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.273T>C;refseq.codonCoord=91;refseq.end=32488851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=281;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D91D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=281;refseq.start=32488851;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr13 32526138 . T G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=633;Dels=0.00;HRun=0;HaplotypeScore=5.48;MQ=98.32;MQ0=0;OQ=25886.82;QD=40.90;RankSumP=1.00000;SB=-10538.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1054T>G;refseq.codonCoord=352;refseq.end=32526138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.F352V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=235;refseq.start=32526138;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr13 32526193 . G C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=652;Dels=0.00;HRun=1;HaplotypeScore=15.00;MQ=98.29;MQ0=0;OQ=31694.63;QD=48.61;RankSumP=1.00000;SB=-15476.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1109G>C;refseq.codonCoord=370;refseq.end=32526193;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C370S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-222;refseq.start=32526193;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr13 32526239 . G A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=662;Dels=0.00;HRun=2;HaplotypeScore=2.94;MQ=98.69;MQ0=0;OQ=28108.18;QD=42.46;RankSumP=1.00000;SB=-13287.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1155G>A;refseq.codonCoord=385;refseq.end=32526239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.K385K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-176;refseq.start=32526239;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr13 32533463 . T C 237.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=7.47;MQ=98.84;MQ0=0;OQ=5606.54;QD=36.41;RankSumP=1.00000;SB=-2253.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2247T>C;refseq.codonCoord=749;refseq.end=32533463;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2255;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A749A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-455;refseq.start=32533463;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr13 32533835 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=602;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=98.77;MQ0=0;OQ=21943.56;QD=36.45;RankSumP=1.00000;SB=-9145.32;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2619T>C;refseq.codonCoord=873;refseq.end=32533835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2627;refseq.name=NM_004795;refseq.name2=KL;refseq.positionType=CDS;refseq.proteinCoordStr=p.N873N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-83;refseq.start=32533835;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr13 32585045 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.1951C>G;refseq.codingCoordStr_2=c.2305C>G;refseq.codingCoordStr_3=c.2281C>G;refseq.codonCoord_1=651;refseq.codonCoord_2=769;refseq.codonCoord_3=761;refseq.end_1=32585045;refseq.end_2=32585045;refseq.end_3=32585045;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2368;refseq.mrnaCoord_2=2431;refseq.mrnaCoord_3=2338;refseq.name2_1=STARD13;refseq.name2_2=STARD13;refseq.name2_3=STARD13;refseq.name_1=NM_052851;refseq.name_2=NM_178006;refseq.name_3=NM_178007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q651E;refseq.proteinCoordStr_2=p.Q769E;refseq.proteinCoordStr_3=p.Q761E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=32585045;refseq.start_2=32585045;refseq.start_3=32585045;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=FilteredInAll GT 0/1 chr13 32598374 . T G 301.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=4032.59;QD=38.77;RankSumP=1.00000;SB=-1500.17;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.1572A>C;refseq.codingCoordStr_2=c.1926A>C;refseq.codingCoordStr_3=c.1902A>C;refseq.codonCoord_1=524;refseq.codonCoord_2=642;refseq.codonCoord_3=634;refseq.end_1=32598374;refseq.end_2=32598374;refseq.end_3=32598374;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1989;refseq.mrnaCoord_2=2052;refseq.mrnaCoord_3=1959;refseq.name2_1=STARD13;refseq.name2_2=STARD13;refseq.name2_3=STARD13;refseq.name_1=NM_052851;refseq.name_2=NM_178006;refseq.name_3=NM_178007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S524S;refseq.proteinCoordStr_2=p.S642S;refseq.proteinCoordStr_3=p.S634S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=32598374;refseq.start_2=32598374;refseq.start_3=32598374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr13 32601656 . T C 104.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=15.48;MQ=98.42;MQ0=0;OQ=13158.70;QD=33.23;RankSumP=1.00000;SB=-2519.61;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.804A>G;refseq.codingCoordStr_2=c.1158A>G;refseq.codingCoordStr_3=c.1134A>G;refseq.codonCoord_1=268;refseq.codonCoord_2=386;refseq.codonCoord_3=378;refseq.end_1=32601656;refseq.end_2=32601656;refseq.end_3=32601656;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1221;refseq.mrnaCoord_2=1284;refseq.mrnaCoord_3=1191;refseq.name2_1=STARD13;refseq.name2_2=STARD13;refseq.name2_3=STARD13;refseq.name_1=NM_052851;refseq.name_2=NM_178006;refseq.name_3=NM_178007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E268E;refseq.proteinCoordStr_2=p.E386E;refseq.proteinCoordStr_3=p.E378E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-591;refseq.spliceDist_2=-591;refseq.spliceDist_3=-591;refseq.start_1=32601656;refseq.start_2=32601656;refseq.start_3=32601656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr13 32602065 . T C 320.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=2.18;MQ=98.83;MQ0=0;OQ=8907.13;QD=39.07;RankSumP=1.00000;SB=-4006.30;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.395A>G;refseq.codingCoordStr_2=c.749A>G;refseq.codingCoordStr_3=c.725A>G;refseq.codonCoord_1=132;refseq.codonCoord_2=250;refseq.codonCoord_3=242;refseq.end_1=32602065;refseq.end_2=32602065;refseq.end_3=32602065;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=812;refseq.mrnaCoord_2=875;refseq.mrnaCoord_3=782;refseq.name2_1=STARD13;refseq.name2_2=STARD13;refseq.name2_3=STARD13;refseq.name_1=NM_052851;refseq.name_2=NM_178006;refseq.name_3=NM_178007;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K132R;refseq.proteinCoordStr_2=p.K250R;refseq.proteinCoordStr_3=p.K242R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=362;refseq.spliceDist_2=362;refseq.spliceDist_3=362;refseq.start_1=32602065;refseq.start_2=32602065;refseq.start_3=32602065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr13 35283031 . G T 189.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.66;MQ0=0;OQ=2835.75;QD=13.63;RankSumP=0.0874384;SB=-1314.95;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1629C>A;refseq.codonCoord_2=543;refseq.end_1=35413347;refseq.end_2=35283031;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1862;refseq.name2_1=MIR548F5;refseq.name2_2=DCLK1;refseq.name_1=NR_031646;refseq.name_2=NM_004734;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P543P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-60;refseq.start_1=35214748;refseq.start_2=35283031;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr13 35299838 . A G 207.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=409;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=8639.62;QD=21.12;RankSumP=0.162976;SB=-2410.54;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1341T>C;refseq.codonCoord_2=447;refseq.end_1=35413347;refseq.end_2=35299838;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1574;refseq.name2_1=MIR548F5;refseq.name2_2=DCLK1;refseq.name_1=NR_031646;refseq.name_2=NM_004734;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N447N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=54;refseq.start_1=35214748;refseq.start_2=35299838;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr13 35300426 . A G 369.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=1857.20;QD=37.90;RankSumP=1.00000;SB=-736.24;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1248T>C;refseq.codonCoord_2=416;refseq.end_1=35413347;refseq.end_2=35300426;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1481;refseq.name2_1=MIR548F5;refseq.name2_2=DCLK1;refseq.name_1=NR_031646;refseq.name_2=NM_004734;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y416Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAT;refseq.spliceDist_2=19;refseq.start_1=35214748;refseq.start_2=35300426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr13 35584138 . T C 136.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=99.00;MQ0=0;OQ=2429.60;QD=12.52;RankSumP=0.259755;SB=-736.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.591A>G;refseq.codonCoord=197;refseq.end=35584138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_004734;refseq.name2=DCLK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P197P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-133;refseq.start=35584138;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr13 35642800 . G A 149.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=585;Dels=0.00;HRun=0;HaplotypeScore=14.74;MQ=98.49;MQ0=0;OQ=12140.19;QD=20.75;RankSumP=0.443623;SB=-4556.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1125C>T;refseq.codonCoord=375;refseq.end=35642800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1214;refseq.name=NM_017826;refseq.name2=SOHLH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y375Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=125;refseq.start=35642800;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr13 35910866 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=256;Dels=0.00;HRun=2;HaplotypeScore=6.12;MQ=97.28;MQ0=0;OQ=473.71;QD=1.85;RankSumP=0.00000;SB=287.94;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_1=c.752T>G;refseq.codingCoordStr_2=c.623T>G;refseq.codingCoordStr_3=c.623T>G;refseq.codingCoordStr_4=c.755T>G;refseq.codonCoord_1=251;refseq.codonCoord_2=208;refseq.codonCoord_3=208;refseq.codonCoord_4=252;refseq.end_1=35910866;refseq.end_2=35910866;refseq.end_3=35910866;refseq.end_4=35910866;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1102;refseq.mrnaCoord_2=984;refseq.mrnaCoord_3=981;refseq.mrnaCoord_4=1105;refseq.name2_1=CCNA1;refseq.name2_2=CCNA1;refseq.name2_3=CCNA1;refseq.name2_4=CCNA1;refseq.name_1=NM_001111045;refseq.name_2=NM_001111046;refseq.name_3=NM_001111047;refseq.name_4=NM_003914;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V251G;refseq.proteinCoordStr_2=p.V208G;refseq.proteinCoordStr_3=p.V208G;refseq.proteinCoordStr_4=p.V252G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.spliceDist_3=86;refseq.spliceDist_4=86;refseq.start_1=35910866;refseq.start_2=35910866;refseq.start_3=35910866;refseq.start_4=35910866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr13 35910869 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_1=c.755A>G;refseq.codingCoordStr_2=c.626A>G;refseq.codingCoordStr_3=c.626A>G;refseq.codingCoordStr_4=c.758A>G;refseq.codonCoord_1=252;refseq.codonCoord_2=209;refseq.codonCoord_3=209;refseq.codonCoord_4=253;refseq.end_1=35910869;refseq.end_2=35910869;refseq.end_3=35910869;refseq.end_4=35910869;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1105;refseq.mrnaCoord_2=987;refseq.mrnaCoord_3=984;refseq.mrnaCoord_4=1108;refseq.name2_1=CCNA1;refseq.name2_2=CCNA1;refseq.name2_3=CCNA1;refseq.name2_4=CCNA1;refseq.name_1=NM_001111045;refseq.name_2=NM_001111046;refseq.name_3=NM_001111047;refseq.name_4=NM_003914;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E252G;refseq.proteinCoordStr_2=p.E209G;refseq.proteinCoordStr_3=p.E209G;refseq.proteinCoordStr_4=p.E253G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.spliceDist_4=89;refseq.start_1=35910869;refseq.start_2=35910869;refseq.start_3=35910869;refseq.start_4=35910869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr13 36478139 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.62;MQ0=0;OQ=2576.25;QD=18.80;RankSumP=0.308406;SB=-632.11;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.321G>A;refseq.codonCoord=107;refseq.end=36478139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_181503;refseq.name2=EXOSC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q107Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-24;refseq.start=36478139;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr13 36481831 . G A 227.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=98.62;MQ0=0;OQ=10376.79;QD=22.32;RankSumP=0.272065;SB=-3871.33;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2318C>T;refseq.codingCoordStr_2=c.*15C>T;refseq.codonCoord_1=773;refseq.end_1=36481831;refseq.end_2=36481831;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2566;refseq.mrnaCoord_2=2544;refseq.name2_1=FAM48A;refseq.name2_2=FAM48A;refseq.name_1=NM_001014286;refseq.name_2=NM_017569;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.T773M;refseq.referenceAA_1=Thr;refseq.referenceCodon_1=ACG;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.start_1=36481831;refseq.start_2=36481831;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantCodon_1=ATG;set=Intersection GT 1/0 chr13 36577268 . G T 251.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=1;HaplotypeScore=4.73;MQ=98.70;MQ0=0;OQ=5483.79;QD=18.10;RankSumP=0.150708;SB=-2131.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.126C>A;refseq.codonCoord=42;refseq.end=36577268;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_145203;refseq.name2=CSNK1A1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.D42E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=534;refseq.start=36577268;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr13 37832867 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.000696269;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.210T>A;refseq.codonCoord=70;refseq.end=37832867;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_016617;refseq.name2=UFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H70Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=20;refseq.start=37832867;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr13 37832899 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.392994;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.242G>A;refseq.codonCoord=81;refseq.end=37832899;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_016617;refseq.name2=UFM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R81H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=52;refseq.start=37832899;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr13 38160057 . G A 161.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.40;MQ0=0;OQ=971.93;QD=40.50;RankSumP=1.00000;SB=-451.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.576G>A;refseq.codonCoord=192;refseq.end=38160057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E192E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=885;refseq.start=38160057;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr13 38161714 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=250;Dels=0.00;HRun=5;HaplotypeScore=9.00;MQ=98.46;MQ0=0;OQ=8360.05;QD=33.44;RankSumP=1.00000;SB=-2693.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2233T>C;refseq.codonCoord=745;refseq.end=38161714;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2542;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S745P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=2542;refseq.start=38161714;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr13 38162690 . T C 175.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=12.22;MQ=98.67;MQ0=0;OQ=10970.89;QD=19.80;RankSumP=0.179311;SB=-4404.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3209T>C;refseq.codonCoord=1070;refseq.end=38162690;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3518;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1070S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-1965;refseq.start=38162690;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr13 38241822 . C T 271.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=98.99;MQ0=0;OQ=2729.76;QD=21.66;RankSumP=0.00329924;SB=-1077.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.5518C>T;refseq.codonCoord=1840;refseq.end=38241822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5827;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1840W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=108;refseq.start=38241822;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=filterInsoap-gatk GT 0/1 chr13 38328314 . C T 255.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=98.73;MQ0=0;OQ=11576.41;QD=42.72;RankSumP=1.00000;SB=-5621.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.6977C>T;refseq.codonCoord=2326;refseq.end=38328314;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7286;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2326I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=52;refseq.start=38328314;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr13 38331606 . A G 283.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=98.42;MQ0=0;OQ=12515.96;QD=37.03;RankSumP=1.00000;SB=-4233.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.7398A>G;refseq.codonCoord=2466;refseq.end=38331606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7707;refseq.name=NM_207361;refseq.name2=FREM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2466T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-122;refseq.start=38331606;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr13 38484343 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=2;HaplotypeScore=2.37;MQ=98.42;MQ0=0;OQ=2605.26;QD=21.71;RankSumP=0.408504;SB=-773.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2589C>G;refseq.codingCoordStr_2=c.2523C>G;refseq.codonCoord_1=863;refseq.codonCoord_2=841;refseq.end_1=38484343;refseq.end_2=38484343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3462;refseq.mrnaCoord_2=3396;refseq.name2_1=C13orf23;refseq.name2_2=C13orf23;refseq.name_1=NM_025138;refseq.name_2=NM_170719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G863G;refseq.proteinCoordStr_2=p.G841G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=38484343;refseq.start_2=38484343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr13 38485166 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=2;HaplotypeScore=7.16;MQ=98.85;MQ0=0;OQ=2775.31;QD=23.93;RankSumP=0.254428;SB=-748.99;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2223T>C;refseq.codingCoordStr_2=c.2157T>C;refseq.codonCoord_1=741;refseq.codonCoord_2=719;refseq.end_1=38485166;refseq.end_2=38485166;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3096;refseq.mrnaCoord_2=3030;refseq.name2_1=C13orf23;refseq.name2_2=C13orf23;refseq.name_1=NM_025138;refseq.name_2=NM_170719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P741P;refseq.proteinCoordStr_2=p.P719P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-339;refseq.spliceDist_2=-339;refseq.start_1=38485166;refseq.start_2=38485166;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr13 38485677 . A G 221.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.57;MQ0=0;OQ=1077.07;QD=16.83;RankSumP=0.0654588;SB=-371.33;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1712T>C;refseq.codingCoordStr_2=c.1646T>C;refseq.codonCoord_1=571;refseq.codonCoord_2=549;refseq.end_1=38485677;refseq.end_2=38485677;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2585;refseq.mrnaCoord_2=2519;refseq.name2_1=C13orf23;refseq.name2_2=C13orf23;refseq.name_1=NM_025138;refseq.name_2=NM_170719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V571A;refseq.proteinCoordStr_2=p.V549A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-850;refseq.spliceDist_2=-850;refseq.start_1=38485677;refseq.start_2=38485677;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr13 38485865 . A C 180.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=99.00;MQ0=0;OQ=1585.25;QD=17.42;RankSumP=0.116906;SB=-692.71;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1524T>G;refseq.codingCoordStr_2=c.1458T>G;refseq.codonCoord_1=508;refseq.codonCoord_2=486;refseq.end_1=38485865;refseq.end_2=38485865;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2397;refseq.mrnaCoord_2=2331;refseq.name2_1=C13orf23;refseq.name2_2=C13orf23;refseq.name_1=NM_025138;refseq.name_2=NM_170719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S508S;refseq.proteinCoordStr_2=p.S486S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=749;refseq.spliceDist_2=749;refseq.start_1=38485865;refseq.start_2=38485865;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr13 38485889 . T C 269.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=12.10;MQ=99.00;MQ0=0;OQ=2010.87;QD=17.04;RankSumP=0.122466;SB=-991.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1500A>G;refseq.codingCoordStr_2=c.1434A>G;refseq.codonCoord_1=500;refseq.codonCoord_2=478;refseq.end_1=38485889;refseq.end_2=38485889;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2373;refseq.mrnaCoord_2=2307;refseq.name2_1=C13orf23;refseq.name2_2=C13orf23;refseq.name_1=NM_025138;refseq.name_2=NM_170719;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L500L;refseq.proteinCoordStr_2=p.L478L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=725;refseq.spliceDist_2=725;refseq.start_1=38485889;refseq.start_2=38485889;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr13 39072988 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=301;Dels=0.00;HRun=2;HaplotypeScore=16.71;MQ=98.40;MQ0=0;OQ=301.50;QD=1.00;RankSumP=0.00000;SB=495.70;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.366A>G;refseq.codonCoord=122;refseq.end=39072988;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_005780;refseq.name2=LHFP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G122G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-20;refseq.start=39072988;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 39127891 . G A 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=91.89;MQ0=0;OQ=217.17;QD=9.87;RankSumP=0.503497;SB=-79.30;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.28G>A;refseq.codingCoordStr_3=c.28G>A;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.end_1=39127891;refseq.end_2=39127891;refseq.end_3=39127891;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=128;refseq.mrnaCoord_2=128;refseq.mrnaCoord_3=128;refseq.name2_1=COG6;refseq.name2_2=COG6;refseq.name2_3=COG6;refseq.name_1=NR_026745;refseq.name_2=NM_001145079;refseq.name_3=NM_020751;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A10T;refseq.proteinCoordStr_3=p.A10T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.spliceDist_3=-126;refseq.start_1=39127891;refseq.start_2=39127891;refseq.start_3=39127891;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr13 39127957 . T A 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=93.63;MQ0=0;OQ=303.16;QD=7.98;RankSumP=0.0191711;SB=-164.80;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.94T>A;refseq.codingCoordStr_3=c.94T>A;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.end_1=39127957;refseq.end_2=39127957;refseq.end_3=39127957;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=194;refseq.mrnaCoord_2=194;refseq.mrnaCoord_3=194;refseq.name2_1=COG6;refseq.name2_2=COG6;refseq.name2_3=COG6;refseq.name_1=NR_026745;refseq.name_2=NM_001145079;refseq.name_3=NM_020751;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C32S;refseq.proteinCoordStr_3=p.C32S;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=39127957;refseq.start_2=39127957;refseq.start_3=39127957;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/0 chr13 40271254 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=98.95;MQ0=0;OQ=10704.69;QD=19.53;RankSumP=0.184884;SB=-4103.03;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.117G>A;refseq.codonCoord_2=39;refseq.end_1=40271254;refseq.end_2=40271254;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2058;refseq.mrnaCoord_2=439;refseq.name2_1=SUGT1L1;refseq.name2_2=SLC25A15;refseq.name_1=NR_003365;refseq.name_2=NM_014252;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T39T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=1607;refseq.spliceDist_2=62;refseq.start_1=40271254;refseq.start_2=40271254;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr13 40277272 . C T 251.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=14.18;MQ=98.75;MQ0=0;OQ=2629.11;QD=19.05;RankSumP=0.389155;SB=-1102.94;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.333C>T;refseq.codonCoord_2=111;refseq.end_1=40298631;refseq.end_2=40277272;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=655;refseq.name2_1=SUGT1L1;refseq.name2_2=SLC25A15;refseq.name_1=NR_003365;refseq.name_2=NM_014252;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A111A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=19;refseq.start_1=40272871;refseq.start_2=40277272;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr13 40413286 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=16.04;MQ=98.72;MQ0=0;OQ=7191.23;QD=19.38;RankSumP=0.248969;SB=-2536.56;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.955A>T;refseq.codingCoordStr_2=c.1027A>T;refseq.codonCoord_1=319;refseq.codonCoord_2=343;refseq.end_1=40413286;refseq.end_2=40413286;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1183;refseq.mrnaCoord_2=1400;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T319S;refseq.proteinCoordStr_2=p.T343S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=221;refseq.spliceDist_2=221;refseq.start_1=40413286;refseq.start_2=40413286;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr13 40413337 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.904A>C;refseq.codingCoordStr_2=c.976A>C;refseq.codonCoord_1=302;refseq.codonCoord_2=326;refseq.end_1=40413337;refseq.end_2=40413337;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1349;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T302P;refseq.proteinCoordStr_2=p.T326P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=170;refseq.spliceDist_2=170;refseq.start_1=40413337;refseq.start_2=40413337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr13 40413371 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=26.98;MQ=97.60;MQ0=0;OQ=1953.61;QD=9.72;RankSumP=0.286741;SB=-347.33;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.870G>A;refseq.codingCoordStr_2=c.942G>A;refseq.codonCoord_1=290;refseq.codonCoord_2=314;refseq.end_1=40413371;refseq.end_2=40413371;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1098;refseq.mrnaCoord_2=1315;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S290S;refseq.proteinCoordStr_2=p.S314S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.start_1=40413371;refseq.start_2=40413371;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr13 40415985 . A G 171.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.89;MQ0=0;OQ=1782.64;QD=13.11;RankSumP=0.166990;SB=-847.54;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.534T>C;refseq.codingCoordStr_2=c.606T>C;refseq.codonCoord_1=178;refseq.codonCoord_2=202;refseq.end_1=40415985;refseq.end_2=40415985;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=979;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D178D;refseq.proteinCoordStr_2=p.D202D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=40415985;refseq.start_2=40415985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr13 40416032 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.487T>C;refseq.codingCoordStr_2=c.559T>C;refseq.codonCoord_1=163;refseq.codonCoord_2=187;refseq.end_1=40416032;refseq.end_2=40416032;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=715;refseq.mrnaCoord_2=932;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S163P;refseq.proteinCoordStr_2=p.S187P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=40416032;refseq.start_2=40416032;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr13 40431052 . T C 229.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=582;Dels=0.00;HRun=0;HaplotypeScore=17.74;MQ=98.95;MQ0=0;OQ=10563.30;QD=18.15;RankSumP=0.498970;SB=-3162.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.173A>G;refseq.codingCoordStr_2=c.173A>G;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=40431052;refseq.end_2=40431052;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=401;refseq.mrnaCoord_2=546;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N58S;refseq.proteinCoordStr_2=p.N58S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=40431052;refseq.start_2=40431052;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr13 40431132 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.93T>C;refseq.codingCoordStr_2=c.93T>C;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=40431132;refseq.end_2=40431132;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=466;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F31F;refseq.proteinCoordStr_2=p.F31F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=40431132;refseq.start_2=40431132;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr13 40454183 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=469;Dels=0.00;HRun=1;HaplotypeScore=57.95;MQ=98.67;MQ0=0;OQ=189.35;QD=0.40;RankSumP=0.00000;SB=622.15;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.8C>G;refseq.codingCoordStr_2=c.8C>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=40454183;refseq.end_2=40454183;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=236;refseq.mrnaCoord_2=381;refseq.name2_1=ELF1;refseq.name2_2=ELF1;refseq.name_1=NM_001145353;refseq.name_2=NM_172373;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A3G;refseq.proteinCoordStr_2=p.A3G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=40454183;refseq.start_2=40454183;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr13 40603495 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=683;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=97.73;MQ0=0;OQ=28471.70;QD=41.69;RankSumP=1.00000;SB=-14193.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1153T>C;refseq.codonCoord=385;refseq.end=40603495;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1442;refseq.name=NM_152903;refseq.name2=KBTBD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L385L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=1442;refseq.start=40603495;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr13 40603905 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.743A>G;refseq.codonCoord=248;refseq.end=40603905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_152903;refseq.name2=KBTBD6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E248G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1032;refseq.start=40603905;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 40665338 . A G 84.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=86.45;MQ0=12;OQ=4751.69;QD=36.83;RankSumP=1.00000;SB=-2094.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1056T>C;refseq.codonCoord=352;refseq.end=40665338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_032138;refseq.name2=KBTBD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P352P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=1365;refseq.start=40665338;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr13 40665341 . A G 92.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=123;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=85.87;MQ0=12;OQ=4400.47;QD=35.78;RankSumP=1.00000;SB=-1864.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1053T>C;refseq.codonCoord=351;refseq.end=40665341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_032138;refseq.name2=KBTBD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H351H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=1362;refseq.start=40665341;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr13 40732744 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=878;Dels=0.00;HRun=1;HaplotypeScore=22.62;MQ=98.78;MQ0=0;OQ=38341.67;QD=43.67;RankSumP=1.00000;SB=-15803.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.300G>A;refseq.codonCoord=100;refseq.end=40732744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_004294;refseq.name2=MTRF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E100E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-116;refseq.start=40732744;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr13 40800939 . T C 432.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.78;MQ0=0;OQ=5312.59;QD=42.16;RankSumP=1.00000;SB=-1689.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.771T>C;refseq.codingCoordStr_2=c.771T>C;refseq.codingCoordStr_3=c.771T>C;refseq.codonCoord_1=257;refseq.codonCoord_2=257;refseq.codonCoord_3=257;refseq.end_1=40800939;refseq.end_2=40800939;refseq.end_3=40800939;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1095;refseq.mrnaCoord_2=1018;refseq.mrnaCoord_3=1095;refseq.name2_1=NAA16;refseq.name2_2=NAA16;refseq.name2_3=NAA16;refseq.name_1=NM_001110798;refseq.name_2=NM_018527;refseq.name_3=NM_024561;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N257N;refseq.proteinCoordStr_2=p.N257N;refseq.proteinCoordStr_3=p.N257N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=40800939;refseq.start_2=40800939;refseq.start_3=40800939;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/1 chr13 40930572 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.03;MQ0=0;OQ=429.43;QD=14.31;RankSumP=0.301034;SB=-229.60;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.201T>C;refseq.codonCoord=67;refseq.end=40930572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_014059;refseq.name2=C13orf15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S67S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-35;refseq.start=40930572;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr13 41305526 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1567A>C;refseq.codingCoordStr_2=c.1567A>C;refseq.codonCoord_1=523;refseq.codonCoord_2=523;refseq.end_1=41305526;refseq.end_2=41305526;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1637;refseq.mrnaCoord_2=1637;refseq.name2_1=KIAA0564;refseq.name2_2=KIAA0564;refseq.name_1=NM_001009814;refseq.name_2=NM_015058;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T523P;refseq.proteinCoordStr_2=p.T523P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=41305526;refseq.start_2=41305526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr13 41340546 . A G 355.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=5.21;MQ=98.90;MQ0=0;OQ=5559.99;QD=18.72;RankSumP=0.0707517;SB=-1394.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1148T>C;refseq.codingCoordStr_2=c.1148T>C;refseq.codonCoord_1=383;refseq.codonCoord_2=383;refseq.end_1=41340546;refseq.end_2=41340546;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1218;refseq.mrnaCoord_2=1218;refseq.name2_1=KIAA0564;refseq.name2_2=KIAA0564;refseq.name_1=NM_001009814;refseq.name_2=NM_015058;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M383T;refseq.proteinCoordStr_2=p.M383T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=41340546;refseq.start_2=41340546;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr13 41363713 . C T 281.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.83;MQ0=0;OQ=4169.22;QD=20.74;RankSumP=0.00143522;SB=-1115.07;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.494G>A;refseq.codingCoordStr_2=c.494G>A;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=41363713;refseq.end_2=41363713;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=564;refseq.mrnaCoord_2=564;refseq.name2_1=KIAA0564;refseq.name2_2=KIAA0564;refseq.name_1=NM_001009814;refseq.name_2=NM_015058;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R165H;refseq.proteinCoordStr_2=p.R165H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=41363713;refseq.start_2=41363713;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=filterInsoap-gatk GT 0/1 chr13 41627441 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.76;MQ0=0;OQ=2044.43;QD=21.30;RankSumP=0.168727;SB=-564.79;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.399C>T;refseq.codingCoordStr_2=c.399C>T;refseq.codonCoord_1=133;refseq.codonCoord_2=133;refseq.end_1=41627441;refseq.end_2=41627441;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=420;refseq.mrnaCoord_2=420;refseq.name2_1=DGKH;refseq.name2_2=DGKH;refseq.name_1=NM_152910;refseq.name_2=NM_178009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F133F;refseq.proteinCoordStr_2=p.F133F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=41627441;refseq.start_2=41627441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr13 41662564 . C G 231.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=98.59;MQ0=0;OQ=8532.81;QD=21.88;RankSumP=0.345300;SB=-3653.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1938C>G;refseq.codingCoordStr_2=c.1938C>G;refseq.codonCoord_1=646;refseq.codonCoord_2=646;refseq.end_1=41662564;refseq.end_2=41662564;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1959;refseq.mrnaCoord_2=1959;refseq.name2_1=DGKH;refseq.name2_2=DGKH;refseq.name_1=NM_152910;refseq.name_2=NM_178009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P646P;refseq.proteinCoordStr_2=p.P646P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=41662564;refseq.start_2=41662564;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr13 41670717 . G T 326.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=6.30;MQ=97.88;MQ0=0;OQ=6200.57;QD=21.91;RankSumP=0.0960543;SB=-2521.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2271G>T;refseq.codingCoordStr_2=c.2271G>T;refseq.codonCoord_1=757;refseq.codonCoord_2=757;refseq.end_1=41670717;refseq.end_2=41670717;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2292;refseq.mrnaCoord_2=2292;refseq.name2_1=DGKH;refseq.name2_2=DGKH;refseq.name_1=NM_152910;refseq.name_2=NM_178009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P757P;refseq.proteinCoordStr_2=p.P757P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=41670717;refseq.start_2=41670717;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr13 41691479 . G A 273.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=5.44;MQ=98.84;MQ0=0;OQ=3201.21;QD=17.49;RankSumP=0.278292;SB=-1442.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.3327G>A;refseq.codingCoordStr_2=c.3327G>A;refseq.codonCoord_1=1109;refseq.codonCoord_2=1109;refseq.end_1=41691479;refseq.end_2=41691479;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3348;refseq.mrnaCoord_2=3348;refseq.name2_1=DGKH;refseq.name2_2=DGKH;refseq.name_1=NM_152910;refseq.name_2=NM_178009;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1109E;refseq.proteinCoordStr_2=p.E1109E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=41691479;refseq.start_2=41691479;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr13 41775753 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4871G>C;refseq.codonCoord=1624;refseq.end=41775753;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5046;refseq.name=NM_016248;refseq.name2=AKAP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1624T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-247;refseq.start=41775753;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr13 42046565 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.03;HRun=5;HaplotypeScore=1.37;MQ=98.34;MQ0=0;OQ=540.73;QD=14.61;RankSumP=0.141029;SB=-38.94;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.126T>C;refseq.codonCoord_2=42;refseq.end_1=42053251;refseq.end_2=42046565;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=275;refseq.name2_1=TNFSF11;refseq.name2_2=TNFSF11;refseq.name_1=NM_033012;refseq.name_2=NM_003701;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P42P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=-94;refseq.start_1=42043885;refseq.start_2=42046565;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/0 chr13 42367157 . G A 396.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.46;MQ0=0;OQ=2900.75;QD=38.68;RankSumP=1.00000;SB=-750.51;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.936C>T;refseq.codingCoordStr_2=c.903C>T;refseq.codonCoord_1=312;refseq.codonCoord_2=301;refseq.end_1=42367157;refseq.end_2=42367157;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=979;refseq.name2_1=EPSTI1;refseq.name2_2=EPSTI1;refseq.name_1=NM_001002264;refseq.name_2=NM_033255;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S312S;refseq.proteinCoordStr_2=p.S301S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=42367157;refseq.start_2=42367157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr13 42367211 . G A 442.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=4761.53;QD=40.35;RankSumP=1.00000;SB=-2090.75;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.882C>T;refseq.codingCoordStr_2=c.849C>T;refseq.codonCoord_1=294;refseq.codonCoord_2=283;refseq.end_1=42367211;refseq.end_2=42367211;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=958;refseq.mrnaCoord_2=925;refseq.name2_1=EPSTI1;refseq.name2_2=EPSTI1;refseq.name_1=NM_001002264;refseq.name_2=NM_033255;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G294G;refseq.proteinCoordStr_2=p.G283G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=42367211;refseq.start_2=42367211;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr13 42686158 . G A 142.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.77;MQ0=0;OQ=2025.54;QD=15.82;RankSumP=0.0946940;SB=-526.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1900C>T;refseq.codingCoordStr_2=c.1900C>T;refseq.codonCoord_1=634;refseq.codonCoord_2=634;refseq.end_1=42686158;refseq.end_2=42686158;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2200;refseq.mrnaCoord_2=2540;refseq.name2_1=ENOX1;refseq.name2_2=ENOX1;refseq.name_1=NM_001127615;refseq.name_2=NM_017993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L634L;refseq.proteinCoordStr_2=p.L634L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.start_1=42686158;refseq.start_2=42686158;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr13 42816778 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.932A>C;refseq.codingCoordStr_2=c.932A>C;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=42816778;refseq.end_2=42816778;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=1572;refseq.name2_1=ENOX1;refseq.name2_2=ENOX1;refseq.name_1=NM_001127615;refseq.name_2=NM_017993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N311T;refseq.proteinCoordStr_2=p.N311T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-105;refseq.spliceDist_2=-105;refseq.start_1=42816778;refseq.start_2=42816778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr13 42828113 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=2.24263e-08;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.765G>C;refseq.codingCoordStr_2=c.765G>C;refseq.codonCoord_1=255;refseq.codonCoord_2=255;refseq.end_1=42828113;refseq.end_2=42828113;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=1405;refseq.name2_1=ENOX1;refseq.name2_2=ENOX1;refseq.name_1=NM_001127615;refseq.name_2=NM_017993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P255P;refseq.proteinCoordStr_2=p.P255P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=42828113;refseq.start_2=42828113;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr13 42833468 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.329T>G;refseq.codingCoordStr_2=c.329T>G;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=42833468;refseq.end_2=42833468;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=629;refseq.mrnaCoord_2=969;refseq.name2_1=ENOX1;refseq.name2_2=ENOX1;refseq.name_1=NM_001127615;refseq.name_2=NM_017993;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V110G;refseq.proteinCoordStr_2=p.V110G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=42833468;refseq.start_2=42833468;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr13 44045811 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2400T>C;refseq.codonCoord=800;refseq.end=44045811;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2891;refseq.name=NM_183422;refseq.name2=TSC22D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P800P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-513;refseq.start=44045811;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 44046257 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=500;Dels=0.00;HRun=1;HaplotypeScore=25.31;MQ=98.61;MQ0=0;OQ=8745.78;QD=17.49;RankSumP=0.000161209;SB=-2693.45;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1954C>T;refseq.codonCoord=652;refseq.end=44046257;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2445;refseq.name=NM_183422;refseq.name2=TSC22D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P652S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-959;refseq.start=44046257;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=filterInsoap-gatk GT 1/0 chr13 44047445 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=277;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.61;MQ0=0;OQ=5191.83;QD=18.74;RankSumP=0.0377227;SB=-1318.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.766A>G;refseq.codonCoord=256;refseq.end=44047445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1257;refseq.name=NM_183422;refseq.name2=TSC22D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S256G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1257;refseq.start=44047445;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr13 44047662 . G A 220.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=6.64;MQ=98.79;MQ0=0;OQ=1795.11;QD=14.25;RankSumP=0.352201;SB=-817.51;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.549C>T;refseq.codonCoord=183;refseq.end=44047662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_183422;refseq.name2=TSC22D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A183A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1040;refseq.start=44047662;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr13 44964309 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1110T>G;refseq.codonCoord=370;refseq.end=44964309;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1211;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C370W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=15;refseq.start=44964309;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr13 44965594 . G A 171.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=339;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.92;MQ0=0;OQ=7587.06;QD=22.38;RankSumP=0.458747;SB=-2411.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1299G>A;refseq.codonCoord=433;refseq.end=44965594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1400;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E433E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-29;refseq.start=44965594;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr13 44975382 . G A 271.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.77;MQ0=0;OQ=11039.80;QD=44.34;RankSumP=1.00000;SB=-2333.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1491G>A;refseq.codonCoord=497;refseq.end=44975382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q497Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=44975382;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr13 45001936 . A G 374.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.68;MQ0=0;OQ=4954.12;QD=40.61;RankSumP=1.00000;SB=-583.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2240A>G;refseq.codonCoord=747;refseq.end=45001936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2341;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N747S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=45001936;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr13 45006854 . T C 233.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.58;MQ0=0;OQ=690.83;QD=38.38;RankSumP=1.00000;SB=-254.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2474T>C;refseq.codonCoord=825;refseq.end=45006854;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2575;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L825S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=17;refseq.start=45006854;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr13 45006855 . G A 237.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.58;MQ0=0;OQ=703.27;QD=39.07;RankSumP=1.00000;SB=-263.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2475G>A;refseq.codonCoord=825;refseq.end=45006855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2576;refseq.name=NM_031431;refseq.name2=COG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L825L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=18;refseq.start=45006855;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr13 45186146 . A G 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=2.23;MQ=97.45;MQ0=0;OQ=121.27;QD=7.13;RankSumP=0.330586;SB=-82.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.985A>G;refseq.codonCoord=329;refseq.end=45186146;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_152719;refseq.name2=SPERT;refseq.positionType=CDS;refseq.proteinCoordStr=p.K329E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-549;refseq.start=45186146;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr13 45539482 . T C 258.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=1;HaplotypeScore=5.67;MQ=98.72;MQ0=0;OQ=5727.48;QD=17.46;RankSumP=0.00915966;SB=-1985.00;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.663A>G;refseq.codonCoord_2=221;refseq.end_1=45545998;refseq.end_2=45539482;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=730;refseq.name2_1=CPB2;refseq.name2_2=CPB2;refseq.name_1=NM_016413;refseq.name_2=NM_001872;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P221P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=-40;refseq.start_1=45536888;refseq.start_2=45539482;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=filterInsoap-gatk GT 1/0 chr13 45554670 . A G 340.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=10.94;MQ=98.89;MQ0=0;OQ=6938.11;QD=17.88;RankSumP=0.0444946;SB=-1713.52;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.291T>C;refseq.codingCoordStr_2=c.291T>C;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=45554670;refseq.end_2=45554670;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=358;refseq.name2_1=CPB2;refseq.name2_2=CPB2;refseq.name_1=NM_001872;refseq.name_2=NM_016413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D97D;refseq.proteinCoordStr_2=p.D97D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=45554670;refseq.start_2=45554670;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr13 45606292 . T C 274.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.79;MQ0=0;OQ=7851.17;QD=22.82;RankSumP=0.00000;SB=-3129.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1597A>G;refseq.codonCoord=533;refseq.end=45606292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1835;refseq.name=NM_002298;refseq.name2=LCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K533E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-30;refseq.start=45606292;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/0 chr13 45615462 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1332A>C;refseq.codonCoord=444;refseq.end=45615462;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_002298;refseq.name2=LCP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K444N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-37;refseq.start=45615462;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr13 46158055 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2205.95;QD=39.39;RankSumP=1.00000;SB=-87.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.700T>C;refseq.codingCoordStr_2=c.700T>C;refseq.codingCoordStr_3=c.700T>C;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.codonCoord_3=234;refseq.end_1=46158055;refseq.end_2=46158055;refseq.end_3=46158055;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=936;refseq.mrnaCoord_2=936;refseq.mrnaCoord_3=936;refseq.name2_1=LRCH1;refseq.name2_2=LRCH1;refseq.name2_3=LRCH1;refseq.name_1=NM_001164211;refseq.name_2=NM_001164213;refseq.name_3=NM_015116;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S234P;refseq.proteinCoordStr_2=p.S234P;refseq.proteinCoordStr_3=p.S234P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=46158055;refseq.start_2=46158055;refseq.start_3=46158055;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/1 chr13 46206110 . A G 435.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.15;MQ0=0;OQ=6338.55;QD=38.89;RankSumP=1.00000;SB=-2939.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.2061A>G;refseq.codingCoordStr_2=c.1956A>G;refseq.codingCoordStr_3=c.1956A>G;refseq.codonCoord_1=687;refseq.codonCoord_2=652;refseq.codonCoord_3=652;refseq.end_1=46206110;refseq.end_2=46206110;refseq.end_3=46206110;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2297;refseq.mrnaCoord_2=2192;refseq.mrnaCoord_3=2192;refseq.name2_1=LRCH1;refseq.name2_2=LRCH1;refseq.name2_3=LRCH1;refseq.name_1=NM_001164211;refseq.name_2=NM_001164213;refseq.name_3=NM_015116;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A687A;refseq.proteinCoordStr_2=p.A652A;refseq.proteinCoordStr_3=p.A652A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=46206110;refseq.start_2=46206110;refseq.start_3=46206110;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr13 46213985 . T C 279.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.58;MQ0=0;OQ=8495.85;QD=37.43;RankSumP=1.00000;SB=-2881.48;SecondBestBaseQ=0;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.*1T>C;refseq.codingCoordStr_3=c.*1T>C;refseq.end_1=46222665;refseq.end_2=46213985;refseq.end_3=46213985;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=2529;refseq.mrnaCoord_3=2424;refseq.name2_1=LRCH1;refseq.name2_2=LRCH1;refseq.name2_3=LRCH1;refseq.name_1=NM_001164213;refseq.name_2=NM_001164211;refseq.name_3=NM_015116;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_2=208;refseq.spliceDist_3=208;refseq.start_1=46206145;refseq.start_2=46213985;refseq.start_3=46213985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/1 chr13 46252102 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=7245.66;QD=20.88;RankSumP=0.438462;SB=-2707.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.569G>A;refseq.codonCoord=190;refseq.end=46252102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_001984;refseq.name2=ESD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-32;refseq.start=46252102;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr13 46307035 . G A 258.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=4.81;MQ=98.52;MQ0=0;OQ=7452.05;QD=17.45;RankSumP=0.228430;SB=-3019.35;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1354C>T;refseq.codingCoordStr_2=c.1102C>T;refseq.codonCoord_1=452;refseq.codonCoord_2=368;refseq.end_1=46307035;refseq.end_2=46307035;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2043;refseq.mrnaCoord_2=1303;refseq.name2_1=HTR2A;refseq.name2_2=HTR2A;refseq.name_1=NM_000621;refseq.name_2=NM_001165947;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H452Y;refseq.proteinCoordStr_2=p.H368Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=741;refseq.spliceDist_2=741;refseq.start_1=46307035;refseq.start_2=46307035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr13 46367941 . G A 278.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.86;MQ0=0;OQ=4537.82;QD=21.61;RankSumP=0.378992;SB=-1554.21;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.102C>T;refseq.codonCoord_2=34;refseq.end_1=46368799;refseq.end_2=46367941;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=791;refseq.name2_1=HTR2A;refseq.name2_2=HTR2A;refseq.name_1=NM_001165947;refseq.name_2=NM_000621;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S34S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-311;refseq.start_1=46364737;refseq.start_2=46367941;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr13 47445468 . A T 333.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.43;MQ0=0;OQ=6740.98;QD=38.08;RankSumP=1.00000;SB=-2658.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.595T>A;refseq.codonCoord=199;refseq.end=47445468;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_003850;refseq.name2=SUCLA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=61;refseq.start=47445468;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr13 47931836 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1972G>A;refseq.codonCoord=658;refseq.end=47931836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2138;refseq.name=NM_000321;refseq.name2=RB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A658T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=12;refseq.start=47931836;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr13 48948621 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=595.92;QD=13.86;RankSumP=0.115339;SB=-145.63;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.314A>G;refseq.codingCoordStr_2=c.350A>G;refseq.codonCoord_1=105;refseq.codonCoord_2=117;refseq.end_1=48948621;refseq.end_2=48948621;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=656;refseq.mrnaCoord_2=1256;refseq.name2_1=SETDB2;refseq.name2_2=SETDB2;refseq.name_1=NM_001160308;refseq.name_2=NM_031915;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E105G;refseq.proteinCoordStr_2=p.E117G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=48948621;refseq.start_2=48948621;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr13 48955098 . G A 365.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=3989.98;QD=40.71;RankSumP=1.00000;SB=-573.32;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1381G>A;refseq.codingCoordStr_2=c.1417G>A;refseq.codonCoord_1=461;refseq.codonCoord_2=473;refseq.end_1=48955098;refseq.end_2=48955098;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1723;refseq.mrnaCoord_2=2323;refseq.name2_1=SETDB2;refseq.name2_2=SETDB2;refseq.name_1=NM_001160308;refseq.name_2=NM_031915;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V461M;refseq.proteinCoordStr_2=p.V473M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=48955098;refseq.start_2=48955098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr13 48978828 . G T 104.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=258;Dels=0.00;HRun=0;HaplotypeScore=8.52;MQ=98.60;MQ0=0;OQ=4804.66;QD=18.62;RankSumP=0.479306;SB=-1821.41;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.151G>T;refseq.codingCoordStr_2=c.34G>T;refseq.codonCoord_1=51;refseq.codonCoord_2=12;refseq.end_1=48978828;refseq.end_2=48978828;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=310;refseq.name2_1=PHF11;refseq.name2_2=PHF11;refseq.name_1=NM_001040443;refseq.name_2=NM_001040444;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D51Y;refseq.proteinCoordStr_2=p.D12Y;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=48978828;refseq.start_2=48978828;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr13 48978848 . A G 191.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=12.50;MQ=98.48;MQ0=0;OQ=7495.06;QD=40.30;RankSumP=1.00000;SB=-2756.61;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.171A>G;refseq.codingCoordStr_2=c.54A>G;refseq.codonCoord_1=57;refseq.codonCoord_2=18;refseq.end_1=48978848;refseq.end_2=48978848;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=508;refseq.mrnaCoord_2=330;refseq.name2_1=PHF11;refseq.name2_2=PHF11;refseq.name_1=NM_001040443;refseq.name_2=NM_001040444;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L57L;refseq.proteinCoordStr_2=p.L18L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=48978848;refseq.start_2=48978848;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr13 49021650 . G A 236.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=89.36;MQ0=2;OQ=3984.82;QD=34.35;RankSumP=1.00000;SB=-904.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.990C>T;refseq.codonCoord=330;refseq.end=49021650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1251;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D330D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-56;refseq.start=49021650;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr13 49021689 . G T 223 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=86.83;MQ0=13;OQ=6512.37;QD=33.23;RankSumP=1.00000;SB=-1396.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.951C>A;refseq.codonCoord=317;refseq.end=49021689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S317S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-95;refseq.start=49021689;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr13 49024383 . G A 58.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.09;MQ0=0;OQ=1766.65;QD=27.18;RankSumP=1.00000;SB=-601.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.643C>T;refseq.codonCoord=215;refseq.end=49024383;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L215L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=40;refseq.start=49024383;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr13 49032100 . T C 90.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=12.79;MQ=97.73;MQ0=0;OQ=11236.59;QD=40.42;RankSumP=1.00000;SB=-4810.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.399A>G;refseq.codonCoord=133;refseq.end=49032100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-46;refseq.start=49032100;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr13 49032151 . A G 438.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.76;MQ0=0;OQ=7445.66;QD=38.38;RankSumP=1.00000;SB=-2897.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.348T>C;refseq.codonCoord=116;refseq.end=49032151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I116I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=71;refseq.start=49032151;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr13 49039363 . G A 78.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=12.52;MQ=98.50;MQ0=0;OQ=10412.26;QD=40.51;RankSumP=1.00000;SB=-3607.57;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.54C>T;refseq.codonCoord=18;refseq.end=49039363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_018191;refseq.name2=RCBTB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I18I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-73;refseq.start=49039363;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr13 49194116 . C T 255.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.56;MQ0=0;OQ=10822.94;QD=36.44;RankSumP=1.00000;SB=-5368.26;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.702G>A;refseq.codonCoord=234;refseq.end=49194116;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_002267;refseq.name2=KPNA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P234P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-25;refseq.start=49194116;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr13 49485158 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.chr_5=chr13;refseq.codingCoordStr_2=c.1090A>C;refseq.codingCoordStr_3=c.1081A>C;refseq.codingCoordStr_4=c.1081A>C;refseq.codingCoordStr_5=c.1081A>C;refseq.codonCoord_2=364;refseq.codonCoord_3=361;refseq.codonCoord_4=361;refseq.codonCoord_5=361;refseq.end_1=49499333;refseq.end_2=49485158;refseq.end_3=49485158;refseq.end_4=49485158;refseq.end_5=49485158;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1508;refseq.mrnaCoord_3=1309;refseq.mrnaCoord_4=1394;refseq.mrnaCoord_5=1844;refseq.name2_1=DLEU2;refseq.name2_2=TRIM13;refseq.name2_3=TRIM13;refseq.name2_4=TRIM13;refseq.name2_5=TRIM13;refseq.name_1=NR_002612;refseq.name_2=NM_001007278;refseq.name_3=NM_005798;refseq.name_4=NM_052811;refseq.name_5=NM_213590;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.T364P;refseq.proteinCoordStr_3=p.T361P;refseq.proteinCoordStr_4=p.T361P;refseq.proteinCoordStr_5=p.T361P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_2=1087;refseq.spliceDist_3=1087;refseq.spliceDist_4=1087;refseq.spliceDist_5=1087;refseq.start_1=49469567;refseq.start_2=49485158;refseq.start_3=49485158;refseq.start_4=49485158;refseq.start_5=49485158;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=FilteredInAll GT 0/1 chr13 50924179 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.86A>C;refseq.codingCoordStr_2=c.125A>C;refseq.codingCoordStr_3=c.125A>C;refseq.codonCoord_1=29;refseq.codonCoord_2=42;refseq.codonCoord_3=42;refseq.end_1=50924179;refseq.end_2=50924179;refseq.end_3=50924179;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=247;refseq.mrnaCoord_2=739;refseq.mrnaCoord_3=739;refseq.name2_1=INTS6;refseq.name2_2=INTS6;refseq.name2_3=INTS6;refseq.name_1=NM_001039937;refseq.name_2=NM_001039938;refseq.name_3=NM_012141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D29A;refseq.proteinCoordStr_2=p.D42A;refseq.proteinCoordStr_3=p.D42A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=50924179;refseq.start_2=50924179;refseq.start_3=50924179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 1/0 chr13 51241392 . C T 144.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.16;MQ0=0;OQ=523.61;QD=14.15;RankSumP=0.572966;SB=-270.23;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.598G>A;refseq.codonCoord=200;refseq.end=51241392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_024705;refseq.name2=DHRS12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G200R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=39;refseq.start=51241392;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr13 51338131 . A G 239.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=1496.57;QD=15.92;RankSumP=0.243342;SB=-733.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.616A>G;refseq.codonCoord=206;refseq.end=51338131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_031290;refseq.name2=CCDC70;refseq.positionType=CDS;refseq.proteinCoordStr=p.I206V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-243;refseq.start=51338131;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr13 51406980 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=472;Dels=0.00;HRun=2;HaplotypeScore=11.68;MQ=98.66;MQ0=0;OQ=8246.12;QD=17.47;RankSumP=0.120928;SB=-3143.77;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.4311G>A;refseq.codingCoordStr_2=c.3690G>A;refseq.codonCoord_1=1437;refseq.codonCoord_2=1230;refseq.end_1=51406980;refseq.end_2=51406980;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4468;refseq.mrnaCoord_2=3847;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K1437K;refseq.proteinCoordStr_2=p.K1230K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=187;refseq.spliceDist_2=187;refseq.start_1=51406980;refseq.start_2=51406980;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr13 51413355 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=338;Dels=0.00;HRun=5;HaplotypeScore=2.59;MQ=98.91;MQ0=0;OQ=6985.31;QD=20.67;RankSumP=0.451283;SB=-2660.97;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.3419T>C;refseq.codingCoordStr_2=c.2798T>C;refseq.codonCoord_1=1140;refseq.codonCoord_2=933;refseq.end_1=51413355;refseq.end_2=51413355;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3576;refseq.mrnaCoord_2=2955;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1140A;refseq.proteinCoordStr_2=p.V933A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=51413355;refseq.start_2=51413355;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr13 51421809 . C T 168.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=9.93;MQ=98.58;MQ0=0;OQ=2983.45;QD=19.12;RankSumP=0.493316;SB=-1376.74;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.2855G>A;refseq.codonCoord_2=952;refseq.end_1=51422133;refseq.end_2=51421809;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3012;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_001005918;refseq.name_2=NM_000053;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R952K;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGA;refseq.spliceDist_2=-11;refseq.start_1=51418626;refseq.start_2=51421809;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr13 51422489 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=2;HaplotypeScore=13.76;MQ=98.81;MQ0=0;OQ=6177.49;QD=17.80;RankSumP=0.0757223;SB=-1786.86;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2495A>G;refseq.codingCoordStr_2=c.2009A>G;refseq.codonCoord_1=832;refseq.codonCoord_2=670;refseq.end_1=51422489;refseq.end_2=51422489;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2652;refseq.mrnaCoord_2=2166;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K832R;refseq.proteinCoordStr_2=p.K670R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=51422489;refseq.start_2=51422489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr13 51429705 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2395C>A;refseq.codingCoordStr_2=c.1909C>A;refseq.codonCoord_1=799;refseq.codonCoord_2=637;refseq.end_1=51429705;refseq.end_2=51429705;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2552;refseq.mrnaCoord_2=2066;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q799K;refseq.proteinCoordStr_2=p.Q637K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=51429705;refseq.start_2=51429705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr13 51442806 . C G 145.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=15.13;MQ=98.70;MQ0=0;OQ=9378.65;QD=24.17;RankSumP=0.475623;SB=-2151.47;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1366G>C;refseq.codingCoordStr_2=c.1366G>C;refseq.codonCoord_1=456;refseq.codonCoord_2=456;refseq.end_1=51442806;refseq.end_2=51442806;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1523;refseq.mrnaCoord_2=1523;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V456L;refseq.proteinCoordStr_2=p.V456L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=51442806;refseq.start_2=51442806;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr13 51446141 . A C 349.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.88;MQ0=0;OQ=5498.84;QD=20.22;RankSumP=0.420877;SB=-1497.32;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1216T>G;refseq.codingCoordStr_2=c.1216T>G;refseq.codonCoord_1=406;refseq.codonCoord_2=406;refseq.end_1=51446141;refseq.end_2=51446141;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1373;refseq.mrnaCoord_2=1373;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S406A;refseq.proteinCoordStr_2=p.S406A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=51446141;refseq.start_2=51446141;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr13 51446900 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.457A>C;refseq.codingCoordStr_2=c.457A>C;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=51446900;refseq.end_2=51446900;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=614;refseq.mrnaCoord_2=614;refseq.name2_1=ATP7B;refseq.name2_2=ATP7B;refseq.name_1=NM_000053;refseq.name_2=NM_001005918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T153P;refseq.proteinCoordStr_2=p.T153P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=406;refseq.spliceDist_2=406;refseq.start_1=51446900;refseq.start_2=51446900;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr13 51501195 . G T 84.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=18.04;MQ=96.25;MQ0=0;OQ=8147.25;QD=36.70;RankSumP=1.00000;SB=-3182.61;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.*468G>T;refseq.codingCoordStr_2=c.254G>T;refseq.codonCoord_2=85;refseq.end_1=51501195;refseq.end_2=51501195;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1952;refseq.mrnaCoord_2=987;refseq.name2_1=ALG11;refseq.name2_2=UTP14C;refseq.name_1=NM_001004127;refseq.name_2=NM_021645;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G85V;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-587;refseq.spliceDist_2=740;refseq.start_1=51501195;refseq.start_2=51501195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr13 51501242 . A G 115.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=95.73;MQ0=0;OQ=2028.30;QD=12.00;RankSumP=0.396764;SB=-1014.37;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.*515A>G;refseq.codingCoordStr_2=c.301A>G;refseq.codonCoord_2=101;refseq.end_1=51501242;refseq.end_2=51501242;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1999;refseq.mrnaCoord_2=1034;refseq.name2_1=ALG11;refseq.name2_2=UTP14C;refseq.name_1=NM_001004127;refseq.name_2=NM_021645;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T101A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-540;refseq.spliceDist_2=787;refseq.start_1=51501242;refseq.start_2=51501242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr13 51501776 . C T 216.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=96.88;MQ0=0;OQ=4798.98;QD=42.85;RankSumP=1.00000;SB=-2238.44;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.*1049C>T;refseq.codingCoordStr_2=c.835C>T;refseq.codonCoord_2=279;refseq.end_1=51501776;refseq.end_2=51501776;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2533;refseq.mrnaCoord_2=1568;refseq.name2_1=ALG11;refseq.name2_2=UTP14C;refseq.name_1=NM_001004127;refseq.name_2=NM_021645;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L279L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=1321;refseq.spliceInfo_1=splice-donor_-6;refseq.start_1=51501776;refseq.start_2=51501776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr13 51850073 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2033C>G;refseq.codingCoordStr_2=c.1874C>G;refseq.codonCoord_1=678;refseq.codonCoord_2=625;refseq.end_1=51850073;refseq.end_2=51850073;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2578;refseq.mrnaCoord_2=2419;refseq.name2_1=THSD1;refseq.name2_2=THSD1;refseq.name_1=NM_018676;refseq.name_2=NM_199263;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A678G;refseq.proteinCoordStr_2=p.A625G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-769;refseq.spliceDist_2=-769;refseq.start_1=51850073;refseq.start_2=51850073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr13 51869894 . G A 215.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=9.35;MQ=98.50;MQ0=0;OQ=9283.72;QD=39.67;RankSumP=1.00000;SB=-4183.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.495C>T;refseq.codingCoordStr_2=c.495C>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=51869894;refseq.end_2=51869894;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1040;refseq.mrnaCoord_2=1040;refseq.name2_1=THSD1;refseq.name2_2=THSD1;refseq.name_1=NM_018676;refseq.name_2=NM_199263;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I165I;refseq.proteinCoordStr_2=p.I165I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=437;refseq.spliceDist_2=437;refseq.start_1=51869894;refseq.start_2=51869894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr13 51933784 . T C 283.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.96;MQ0=0;OQ=9684.50;QD=41.56;RankSumP=1.00000;SB=-4535.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.825T>C;refseq.codingCoordStr_2=c.822T>C;refseq.codonCoord_1=275;refseq.codonCoord_2=274;refseq.end_1=51933784;refseq.end_2=51933784;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=1019;refseq.name2_1=CKAP2;refseq.name2_2=CKAP2;refseq.name_1=NM_001098525;refseq.name_2=NM_018204;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T275T;refseq.proteinCoordStr_2=p.T274T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-279;refseq.spliceDist_2=-279;refseq.start_1=51933784;refseq.start_2=51933784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr13 51933926 . A G 263.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=98.98;MQ0=0;OQ=13131.07;QD=41.55;RankSumP=1.00000;SB=-5927.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.967A>G;refseq.codingCoordStr_2=c.964A>G;refseq.codonCoord_1=323;refseq.codonCoord_2=322;refseq.end_1=51933926;refseq.end_2=51933926;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1164;refseq.mrnaCoord_2=1161;refseq.name2_1=CKAP2;refseq.name2_2=CKAP2;refseq.name_1=NM_001098525;refseq.name_2=NM_018204;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I323V;refseq.proteinCoordStr_2=p.I322V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-137;refseq.spliceDist_2=-137;refseq.start_1=51933926;refseq.start_2=51933926;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr13 52115036 . C A 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=314;Dels=0.00;HRun=1;HaplotypeScore=3.08;MQ=17.30;MQ0=100;OQ=2031.95;QD=6.47;RankSumP=0.800000;SB=-1031.96;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.408C>A;refseq.codingCoordStr_2=c.408C>A;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=52115036;refseq.end_2=52115036;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1481;refseq.mrnaCoord_2=1340;refseq.name2_1=HNRNPA1L2;refseq.name2_2=HNRNPA1L2;refseq.name_1=NM_001011724;refseq.name_2=NM_001011725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I136I;refseq.proteinCoordStr_2=p.I136I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=495;refseq.spliceDist_2=495;refseq.start_1=52115036;refseq.start_2=52115036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr13 52115271 . A G 283.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=54.42;MQ0=1;OQ=3105.27;QD=16.26;RankSumP=0.400557;SB=-1235.61;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.643A>G;refseq.codingCoordStr_2=c.643A>G;refseq.codonCoord_1=215;refseq.codonCoord_2=215;refseq.end_1=52115271;refseq.end_2=52115271;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1716;refseq.mrnaCoord_2=1575;refseq.name2_1=HNRNPA1L2;refseq.name2_2=HNRNPA1L2;refseq.name_1=NM_001011724;refseq.name_2=NM_001011725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N215D;refseq.proteinCoordStr_2=p.N215D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-650;refseq.spliceDist_2=-650;refseq.start_1=52115271;refseq.start_2=52115271;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr13 52115492 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.185276;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.864C>T;refseq.codingCoordStr_2=c.864C>T;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=52115492;refseq.end_2=52115492;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1937;refseq.mrnaCoord_2=1796;refseq.name2_1=HNRNPA1L2;refseq.name2_2=HNRNPA1L2;refseq.name_1=NM_001011724;refseq.name_2=NM_001011725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P288P;refseq.proteinCoordStr_2=p.P288P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-429;refseq.spliceDist_2=-429;refseq.start_1=52115492;refseq.start_2=52115492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT 0/1 chr13 52115494 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=382;Dels=0.00;HRun=0;HaplotypeScore=22.21;MQ=35.11;MQ0=225;OQ=2397.53;QD=6.28;RankSumP=0.00828326;SB=-1038.59;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.866A>G;refseq.codingCoordStr_2=c.866A>G;refseq.codonCoord_1=289;refseq.codonCoord_2=289;refseq.end_1=52115494;refseq.end_2=52115494;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1939;refseq.mrnaCoord_2=1798;refseq.name2_1=HNRNPA1L2;refseq.name2_2=HNRNPA1L2;refseq.name_1=NM_001011724;refseq.name_2=NM_001011725;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y289C;refseq.proteinCoordStr_2=p.Y289C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-427;refseq.spliceDist_2=-427;refseq.start_1=52115494;refseq.start_2=52115494;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=filterInsoap-gatk GT 0/1 chr13 52320554 . A G 230.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.77;MQ0=0;OQ=2705.48;QD=15.03;RankSumP=0.172925;SB=-674.47;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.19T>C;refseq.codingCoordStr_2=c.19T>C;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=52320554;refseq.end_2=52320554;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=222;refseq.mrnaCoord_2=222;refseq.name2_1=PCDH8;refseq.name2_2=PCDH8;refseq.name_1=NM_002590;refseq.name_2=NM_032949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W7R;refseq.proteinCoordStr_2=p.W7R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=222;refseq.spliceDist_2=222;refseq.start_1=52320554;refseq.start_2=52320554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr13 52501078 . T C 99.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=1;HaplotypeScore=10.35;MQ=98.60;MQ0=0;OQ=6577.21;QD=17.97;RankSumP=0.407749;SB=-1921.14;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.106T>C;refseq.codonCoord=36;refseq.end=52501078;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_006418;refseq.name2=OLFM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-99;refseq.start=52501078;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr13 57107217 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2536A>C;refseq.codonCoord=846;refseq.end=57107217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3428;refseq.name=NM_001040429;refseq.name2=PCDH17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T846P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-30;refseq.start=57107217;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 59138830 . C T 209.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=526;Dels=0.00;HRun=0;HaplotypeScore=10.34;MQ=98.89;MQ0=0;OQ=10631.11;QD=20.21;RankSumP=0.480682;SB=-3369.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3471G>A;refseq.codonCoord=1157;refseq.end=59138830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3690;refseq.name=NM_001042517;refseq.name2=DIAPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1157A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=152;refseq.start=59138830;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr13 59138962 . C T 221.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.97;MQ0=0;OQ=4565.35;QD=19.76;RankSumP=0.272294;SB=-1119.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3339G>A;refseq.codonCoord=1113;refseq.end=59138962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3558;refseq.name=NM_001042517;refseq.name2=DIAPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1113L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=20;refseq.start=59138962;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr13 59464645 . T C 122.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=98.79;MQ0=0;OQ=2659.44;QD=15.28;RankSumP=0.0505689;SB=-880.60;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1088A>G;refseq.codingCoordStr_2=c.299A>G;refseq.codonCoord_1=363;refseq.codonCoord_2=100;refseq.end_1=59464645;refseq.end_2=59464645;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1307;refseq.mrnaCoord_2=478;refseq.name2_1=DIAPH3;refseq.name2_2=DIAPH3;refseq.name_1=NM_001042517;refseq.name_2=NM_030932;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N363S;refseq.proteinCoordStr_2=p.N100S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=59464645;refseq.start_2=59464645;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr13 60884919 . C A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=416;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=98.87;MQ0=0;OQ=16253.84;QD=39.07;RankSumP=1.00000;SB=-7749.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1314G>T;refseq.codonCoord=438;refseq.end=60884919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_022843;refseq.name2=PCDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.V438V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1182;refseq.start=60884919;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr13 60887168 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.62138e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.125A>C;refseq.codonCoord=42;refseq.end=60887168;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_022843;refseq.name2=PCDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.N42T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=60887168;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr13 66698936 . G A 293.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=8.86;MQ=98.91;MQ0=0;OQ=15284.39;QD=40.76;RankSumP=1.00000;SB=-6047.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1638C>T;refseq.codingCoordStr_2=c.1638C>T;refseq.codonCoord_1=546;refseq.codonCoord_2=546;refseq.end_1=66698936;refseq.end_2=66698936;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2330;refseq.mrnaCoord_2=2330;refseq.name2_1=PCDH9;refseq.name2_2=PCDH9;refseq.name_1=NM_020403;refseq.name_2=NM_203487;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D546D;refseq.proteinCoordStr_2=p.D546D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-1399;refseq.spliceDist_2=-1399;refseq.start_1=66698936;refseq.start_2=66698936;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr13 66700340 . A T 408.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.55;MQ0=0;OQ=5162.81;QD=36.62;RankSumP=1.00000;SB=-1632.24;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.234T>A;refseq.codingCoordStr_2=c.234T>A;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.end_1=66700340;refseq.end_2=66700340;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=926;refseq.mrnaCoord_2=926;refseq.name2_1=PCDH9;refseq.name2_2=PCDH9;refseq.name_1=NM_020403;refseq.name_2=NM_203487;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V78V;refseq.proteinCoordStr_2=p.V78V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=369;refseq.spliceDist_2=369;refseq.start_1=66700340;refseq.start_2=66700340;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr13 72199724 . A C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.501465;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.18T>G;refseq.codonCoord=6;refseq.end=72199724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_001071775;refseq.name2=C13orf37;refseq.positionType=CDS;refseq.proteinCoordStr=p.G6G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-62;refseq.start=72199724;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 72199729 . T C 72.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=90.71;MQ0=0;OQ=116.23;QD=12.91;RankSumP=1.00000;SB=-52.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.13A>G;refseq.codonCoord=5;refseq.end=72199729;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_001071775;refseq.name2=C13orf37;refseq.positionType=CDS;refseq.proteinCoordStr=p.S5G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-67;refseq.start=72199729;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr13 72241040 . C T 159.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.74;MQ0=0;OQ=1579.12;QD=13.85;RankSumP=0.418424;SB=-660.62;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1677G>A;refseq.codingCoordStr_2=c.1767G>A;refseq.codonCoord_1=559;refseq.codonCoord_2=589;refseq.end_1=72241040;refseq.end_2=72241040;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2051;refseq.mrnaCoord_2=2141;refseq.name2_1=DIS3;refseq.name2_2=DIS3;refseq.name_1=NM_001128226;refseq.name_2=NM_014953;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T559T;refseq.proteinCoordStr_2=p.T589T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=72241040;refseq.start_2=72241040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr13 72247360 . G C 109.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.60;MQ0=0;OQ=3887.39;QD=24.00;RankSumP=0.289546;SB=-783.30;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.887C>G;refseq.codingCoordStr_2=c.977C>G;refseq.codonCoord_1=296;refseq.codonCoord_2=326;refseq.end_1=72247360;refseq.end_2=72247360;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1261;refseq.mrnaCoord_2=1351;refseq.name2_1=DIS3;refseq.name2_2=DIS3;refseq.name_1=NM_001128226;refseq.name_2=NM_014953;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T296R;refseq.proteinCoordStr_2=p.T326R;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=72247360;refseq.start_2=72247360;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr13 72247456 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.791T>G;refseq.codingCoordStr_2=c.881T>G;refseq.codonCoord_1=264;refseq.codonCoord_2=294;refseq.end_1=72247456;refseq.end_2=72247456;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1165;refseq.mrnaCoord_2=1255;refseq.name2_1=DIS3;refseq.name2_2=DIS3;refseq.name_1=NM_001128226;refseq.name_2=NM_014953;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V264G;refseq.proteinCoordStr_2=p.V294G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=72247456;refseq.start_2=72247456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr13 72267643 . A G 215.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=99.00;MQ0=0;OQ=1955.24;QD=22.74;RankSumP=0.426818;SB=-974.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.499A>G;refseq.codonCoord=167;refseq.end=72267643;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_006346;refseq.name2=PIBF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I167V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-54;refseq.start=72267643;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr13 74761246 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3488T>G;refseq.codonCoord=1163;refseq.end=74761246;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3835;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1163G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=74761246;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr13 74771575 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3048A>G;refseq.codonCoord=1016;refseq.end=74771575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3395;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1016G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-109;refseq.start=74771575;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr13 74774390 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=1;HaplotypeScore=12.14;MQ=98.93;MQ0=0;OQ=8117.18;QD=19.80;RankSumP=0.428736;SB=-2913.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2901C>T;refseq.codonCoord=967;refseq.end=74774390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3248;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L967L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-11;refseq.start=74774390;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr13 74782217 . C T 349.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=2132.28;QD=38.08;RankSumP=1.00000;SB=-468.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2455G>A;refseq.codonCoord=819;refseq.end=74782217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2802;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V819I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=72;refseq.start=74782217;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr13 74798511 . G A 269.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=98.88;MQ0=0;OQ=5099.33;QD=19.17;RankSumP=1.03354e-06;SB=-2132.54;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1856C>T;refseq.codonCoord=619;refseq.end=74798511;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2203;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P619L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=50;refseq.start=74798511;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/0 chr13 74813262 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=1;HaplotypeScore=20.28;MQ=95.22;MQ0=0;OQ=7706.96;QD=18.98;RankSumP=0.146528;SB=-1342.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1611T>G;refseq.codonCoord=537;refseq.end=74813262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1958;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S537S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=74813262;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr13 74834520 . C G 208.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=6.90;MQ=98.72;MQ0=0;OQ=7051.77;QD=41.00;RankSumP=1.00000;SB=-1336.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.723G>C;refseq.codonCoord=241;refseq.end=74834520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1070;refseq.name=NM_014832;refseq.name2=TBC1D4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G241G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=225;refseq.start=74834520;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr13 75276460 . T C 314.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.86;MQ0=0;OQ=10568.35;QD=41.94;RankSumP=1.00000;SB=-4794.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.852T>C;refseq.codingCoordStr_2=c.-4T>C;refseq.codonCoord_1=284;refseq.end_1=75276460;refseq.end_2=75276460;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2112;refseq.mrnaCoord_2=757;refseq.name2_1=LMO7;refseq.name2_2=LMO7;refseq.name_1=NM_005358;refseq.name_2=NM_015842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.F284F;refseq.referenceAA_1=Phe;refseq.referenceCodon_1=TTT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=75276460;refseq.start_2=75276460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantCodon_1=TTC;set=Intersection GT 1/1 chr13 76472984 . A G 280.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.91;MQ0=0;OQ=1909.06;QD=19.09;RankSumP=0.371290;SB=-715.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1103A>G;refseq.codonCoord=368;refseq.end=76472984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1131;refseq.name=NM_006493;refseq.name2=CLN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K368R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=391;refseq.start=76472984;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr13 76523234 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.13820T>G;refseq.codonCoord=4607;refseq.end=76523234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14087;refseq.name=NM_015057;refseq.name2=MYCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4607G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=65;refseq.start=76523234;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr13 76570810 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=163;Dels=0.00;HRun=3;HaplotypeScore=14.48;MQ=97.47;MQ0=0;OQ=365.84;QD=2.24;RankSumP=0.00000;SB=167.59;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.8480T>C;refseq.codonCoord=2827;refseq.end=76570810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8747;refseq.name=NM_015057;refseq.name2=MYCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2827P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=340;refseq.start=76570810;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 76571118 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.8172A>C;refseq.codonCoord=2724;refseq.end=76571118;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8439;refseq.name=NM_015057;refseq.name2=MYCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2724N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=32;refseq.start=76571118;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr13 76649893 . C T 181.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.85;MQ0=0;OQ=2141.26;QD=14.67;RankSumP=0.258663;SB=-499.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.5331G>A;refseq.codonCoord=1777;refseq.end=76649893;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5598;refseq.name=NM_015057;refseq.name2=MYCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1777L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=76649893;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr13 76732628 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.32;MQ0=0;OQ=1582.50;QD=12.76;RankSumP=0.443700;SB=-668.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1953T>G;refseq.codonCoord=651;refseq.end=76732628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2220;refseq.name=NM_015057;refseq.name2=MYCBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S651S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-65;refseq.start=76732628;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr13 77044302 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=342;Dels=0.00;HRun=1;HaplotypeScore=21.42;MQ=98.54;MQ0=0;OQ=14547.89;QD=42.54;RankSumP=1.00000;SB=-7014.82;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.522C>T;refseq.codingCoordStr_3=c.522C>T;refseq.codonCoord_2=174;refseq.codonCoord_3=174;refseq.end_1=77061269;refseq.end_2=77044302;refseq.end_3=77044302;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=692;refseq.mrnaCoord_3=692;refseq.name2_1=SCEL;refseq.name2_2=SCEL;refseq.name2_3=SCEL;refseq.name_1=NM_001160706;refseq.name_2=NM_003843;refseq.name_3=NM_144777;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S174S;refseq.proteinCoordStr_3=p.S174S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=77041598;refseq.start_2=77044302;refseq.start_3=77044302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chr13 77076551 . G A 147.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=98.97;MQ0=0;OQ=1405.66;QD=15.97;RankSumP=0.422744;SB=-678.56;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_2=c.1097G>A;refseq.codingCoordStr_3=c.1157G>A;refseq.codonCoord_2=366;refseq.codonCoord_3=386;refseq.end_1=77080181;refseq.end_2=77076551;refseq.end_3=77076551;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1267;refseq.mrnaCoord_3=1327;refseq.name2_1=SCEL;refseq.name2_2=SCEL;refseq.name2_3=SCEL;refseq.name_1=NM_001160706;refseq.name_2=NM_003843;refseq.name_3=NM_144777;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R366K;refseq.proteinCoordStr_3=p.R386K;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.start_1=77075282;refseq.start_2=77076551;refseq.start_3=77076551;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/0 chr13 77373314 . T C 258.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.71;MQ0=0;OQ=3777.76;QD=21.96;RankSumP=0.428145;SB=-1268.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.831A>G;refseq.codingCoordStr_2=c.831A>G;refseq.codingCoordStr_3=c.831A>G;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.codonCoord_3=277;refseq.end_1=77373314;refseq.end_2=77373314;refseq.end_3=77373314;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=1089;refseq.mrnaCoord_3=1089;refseq.name2_1=EDNRB;refseq.name2_2=EDNRB;refseq.name2_3=EDNRB;refseq.name_1=NM_000115;refseq.name_2=NM_001122659;refseq.name_3=NM_003991;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L277L;refseq.proteinCoordStr_2=p.L277L;refseq.proteinCoordStr_3=p.L277L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=77373314;refseq.start_2=77373314;refseq.start_3=77373314;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr13 77375675 . A G 247.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.96;MQ0=0;OQ=12343.26;QD=37.86;RankSumP=1.00000;SB=-4664.80;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.552T>C;refseq.codingCoordStr_2=c.552T>C;refseq.codingCoordStr_3=c.552T>C;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.codonCoord_3=184;refseq.end_1=77375675;refseq.end_2=77375675;refseq.end_3=77375675;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=786;refseq.mrnaCoord_2=810;refseq.mrnaCoord_3=810;refseq.name2_1=EDNRB;refseq.name2_2=EDNRB;refseq.name2_3=EDNRB;refseq.name_1=NM_000115;refseq.name_2=NM_001122659;refseq.name_3=NM_003991;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S184S;refseq.proteinCoordStr_2=p.S184S;refseq.proteinCoordStr_3=p.S184S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=77375675;refseq.start_2=77375675;refseq.start_3=77375675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr13 78838812 . T C 125.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.26;MQ0=0;OQ=1918.79;QD=29.07;RankSumP=1.00000;SB=-978.63;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1092A>G;refseq.codonCoord=364;refseq.end=78838812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_022118;refseq.name2=RBM26;refseq.positionType=CDS;refseq.proteinCoordStr=p.V364V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-44;refseq.start=78838812;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr13 79809512 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=404;Dels=0.00;HRun=0;HaplotypeScore=4.91;MQ=97.94;MQ0=0;OQ=6709.99;QD=16.61;RankSumP=0.148398;SB=-2563.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.330C>T;refseq.codonCoord=110;refseq.end=79809512;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_005842;refseq.name2=SPRY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S110S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=381;refseq.start=79809512;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr13 79809526 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=23.12;MQ=97.88;MQ0=0;OQ=5600.21;QD=13.37;RankSumP=0.321001;SB=-1853.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.316C>T;refseq.codonCoord=106;refseq.end=79809526;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_005842;refseq.name2=SPRY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P106S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=367;refseq.start=79809526;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr13 85267121 . C T 346.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.85;MQ0=0;OQ=11563.19;QD=41.15;RankSumP=1.00000;SB=-4333.73;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1524G>A;refseq.codonCoord=508;refseq.end=85267121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1983;refseq.name=NM_032229;refseq.name2=SLITRK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L508L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=1548;refseq.start=85267121;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr13 91143580 . C T 326.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=98.90;MQ0=0;OQ=10871.43;QD=41.34;RankSumP=1.00000;SB=-4550.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.464C>T;refseq.codonCoord=155;refseq.end=91143580;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_004466;refseq.name2=GPC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A155V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=139;refseq.start=91143580;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr13 93756380 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr13;refseq.codingCoordStr=c.1152+2;refseq.end=93756380;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_005708;refseq.name2=GPC6;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=93756380;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr13 93832750 . G A 305.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.79;MQ0=0;OQ=2900.46;QD=18.83;RankSumP=0.256677;SB=-1303.11;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1234G>A;refseq.codonCoord=412;refseq.end=93832750;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1866;refseq.name=NM_005708;refseq.name2=GPC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V412M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-56;refseq.start=93832750;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr13 94062605 . C T 147.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=21.59;MQ=98.68;MQ0=0;OQ=8478.06;QD=19.95;RankSumP=0.111391;SB=-3241.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.465C>T;refseq.codonCoord=155;refseq.end=94062605;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_180989;refseq.name2=GPR180;refseq.positionType=CDS;refseq.proteinCoordStr=p.A155A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-41;refseq.start=94062605;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr13 94162047 . C G 132.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=4.81;MQ=98.41;MQ0=0;OQ=2506.03;QD=13.92;RankSumP=0.128929;SB=-556.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.258G>C;refseq.codonCoord=86;refseq.end=94162047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=344;refseq.name=NM_007084;refseq.name2=SOX21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=344;refseq.start=94162047;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr13 94512977 . C T 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=2;HaplotypeScore=6.24;MQ=98.94;MQ0=0;OQ=10635.36;QD=43.59;RankSumP=1.00000;SB=-5140.50;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3348G>A;refseq.codonCoord=1116;refseq.end=94512977;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3467;refseq.name=NM_005845;refseq.name2=ABCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1116K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-19;refseq.start=94512977;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr13 94524542 . A G 356.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.75;MQ0=0;OQ=10442.23;QD=37.16;RankSumP=1.00000;SB=-3537.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2844T>C;refseq.codonCoord=948;refseq.end=94524542;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2963;refseq.name=NM_005845;refseq.name2=ABCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F948F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=38;refseq.start=94524542;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr13 94525781 . T C 311.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=5571.01;QD=42.85;RankSumP=1.00000;SB=-432.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2712A>G;refseq.codonCoord=904;refseq.end=94525781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2831;refseq.name=NM_005845;refseq.name2=ABCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L904L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=26;refseq.start=94525781;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr13 94533508 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2573T>G;refseq.codonCoord=858;refseq.end=94533508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2692;refseq.name=NM_005845;refseq.name2=ABCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V858G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=94533508;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 94656979 . T C 156.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.55;MQ0=0;OQ=1199.72;QD=13.63;RankSumP=0.383020;SB=-496.96;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.969A>G;refseq.codingCoordStr_2=c.969A>G;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=94656979;refseq.end_2=94656979;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1088;refseq.mrnaCoord_2=1088;refseq.name2_1=ABCC4;refseq.name2_2=ABCC4;refseq.name_1=NM_001105515;refseq.name_2=NM_005845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S323S;refseq.proteinCoordStr_2=p.S323S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=94656979;refseq.start_2=94656979;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr13 94656997 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.56;MQ0=0;OQ=1533.79;QD=17.23;RankSumP=0.150915;SB=-749.92;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.951A>G;refseq.codingCoordStr_2=c.951A>G;refseq.codonCoord_1=317;refseq.codonCoord_2=317;refseq.end_1=94656997;refseq.end_2=94656997;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1070;refseq.name2_1=ABCC4;refseq.name2_2=ABCC4;refseq.name_1=NM_001105515;refseq.name_2=NM_005845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R317R;refseq.proteinCoordStr_2=p.R317R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=94656997;refseq.start_2=94656997;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr13 94659805 . A G 381.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=4142.71;QD=39.08;RankSumP=1.00000;SB=-755.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.669T>C;refseq.codingCoordStr_2=c.669T>C;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.end_1=94659805;refseq.end_2=94659805;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=788;refseq.mrnaCoord_2=788;refseq.name2_1=ABCC4;refseq.name2_2=ABCC4;refseq.name_1=NM_001105515;refseq.name_2=NM_005845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I223I;refseq.proteinCoordStr_2=p.I223I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=94659805;refseq.start_2=94659805;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr13 95037806 . G A 148.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=380;Dels=0.00;HRun=1;HaplotypeScore=11.15;MQ=98.84;MQ0=0;OQ=6739.68;QD=17.74;RankSumP=0.0320751;SB=-2128.37;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2149C>T;refseq.codingCoordStr_2=c.2206C>T;refseq.codonCoord_1=717;refseq.codonCoord_2=736;refseq.end_1=95037806;refseq.end_2=95037806;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3001;refseq.mrnaCoord_2=3058;refseq.name2_1=DZIP1;refseq.name2_2=DZIP1;refseq.name_1=NM_014934;refseq.name_2=NM_198968;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P717S;refseq.proteinCoordStr_2=p.P736S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=95037806;refseq.start_2=95037806;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr13 95287397 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4345T>G;refseq.codonCoord=1449;refseq.end=95287397;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4515;refseq.name=NM_020121;refseq.name2=UGGT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1449G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-57;refseq.start=95287397;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 95304665 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=209;Dels=0.00;HRun=2;HaplotypeScore=5.14;MQ=98.63;MQ0=0;OQ=4362.16;QD=20.87;RankSumP=0.345359;SB=-770.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4074T>C;refseq.codonCoord=1358;refseq.end=95304665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4244;refseq.name=NM_020121;refseq.name2=UGGT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1358T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=66;refseq.start=95304665;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr13 95338205 . T G 126.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=8.65;MQ=98.65;MQ0=0;OQ=2604.94;QD=16.70;RankSumP=0.433603;SB=-725.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2980A>C;refseq.codonCoord=994;refseq.end=95338205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3150;refseq.name=NM_020121;refseq.name2=UGGT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M994L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=22;refseq.start=95338205;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr13 95436637 . A C 318.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=98.88;MQ0=0;OQ=5878.55;QD=20.48;RankSumP=0.423749;SB=-2275.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.982T>G;refseq.codonCoord=328;refseq.end=95436637;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1152;refseq.name=NM_020121;refseq.name2=UGGT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S328A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-50;refseq.start=95436637;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr13 96437415 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=633;Dels=0.00;HRun=1;HaplotypeScore=8.51;MQ=98.90;MQ0=0;OQ=12192.04;QD=19.26;RankSumP=0.00511249;SB=-3699.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.600G>A;refseq.codonCoord=200;refseq.end=96437415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_080818;refseq.name2=OXGR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L200L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=674;refseq.start=96437415;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=filterInsoap-gatk GT 0/1 chr13 96816791 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.1072A>C;refseq.codonCoord_2=358;refseq.end_1=96841566;refseq.end_2=96816791;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1888;refseq.name2_1=MBNL2;refseq.name2_2=MBNL2;refseq.name_1=NM_207304;refseq.name_2=NM_144778;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T358P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=-18;refseq.start_1=96807901;refseq.start_2=96816791;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr13 97443254 . A G 329.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.72;MQ0=0;OQ=5484.02;QD=18.98;RankSumP=0.247091;SB=-1933.92;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.831A>G;refseq.codonCoord=277;refseq.end=97443254;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_002271;refseq.name2=IPO5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L277L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-16;refseq.start=97443254;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr13 97450835 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=2;RankSumP=0.00000;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1097G>T;refseq.codonCoord=366;refseq.end=97450835;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1277;refseq.name=NM_002271;refseq.name2=IPO5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C366F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=42;refseq.start=97450835;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr13 97450836 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1098C>T;refseq.codonCoord=366;refseq.end=97450836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1278;refseq.name=NM_002271;refseq.name2=IPO5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C366C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=43;refseq.start=97450836;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr13 97627177 . T C 111.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=98.17;MQ0=0;OQ=7361.78;QD=34.40;RankSumP=1.00000;SB=-3512.71;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_3=c.315A>G;refseq.codonCoord_3=105;refseq.end_1=97663464;refseq.end_2=97663464;refseq.end_3=97627177;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=346;refseq.name2_1=FARP1;refseq.name2_2=FARP1;refseq.name2_3=RNF113B;refseq.name_1=NM_001001715;refseq.name_2=NM_005766;refseq.name_3=NM_178861;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P105P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCA;refseq.spliceDist_3=346;refseq.start_1=97593758;refseq.start_2=97593758;refseq.start_3=97627177;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr13 97694777 . C T 194.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=14.49;MQ=98.64;MQ0=0;OQ=2430.66;QD=15.58;RankSumP=0.0877703;SB=-899.56;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.203C>T;refseq.codonCoord_2=68;refseq.end_1=97794006;refseq.end_2=97694777;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=539;refseq.name2_1=FARP1;refseq.name2_2=FARP1;refseq.name_1=NM_005766;refseq.name_2=NM_001001715;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T68I;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=32;refseq.start_1=97663679;refseq.start_2=97694777;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr13 97898548 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=654;Dels=0.00;HRun=1;HaplotypeScore=9.70;MQ=98.86;MQ0=0;OQ=12829.47;QD=19.62;RankSumP=0.0959479;SB=-4231.20;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3114T>C;refseq.codonCoord=1038;refseq.end=97898548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3450;refseq.name=NM_005766;refseq.name2=FARP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1038S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=58;refseq.start=97898548;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr13 97910681 . C T 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=2;HaplotypeScore=2.98;MQ=98.81;MQ0=0;OQ=6350.65;QD=41.51;RankSumP=1.00000;SB=-2713.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1068G>A;refseq.codingCoordStr_2=c.1104G>A;refseq.codonCoord_1=356;refseq.codonCoord_2=368;refseq.end_1=97910681;refseq.end_2=97910681;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1424;refseq.mrnaCoord_2=1339;refseq.name2_1=STK24;refseq.name2_2=STK24;refseq.name_1=NM_001032296;refseq.name_2=NM_003576;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P356P;refseq.proteinCoordStr_2=p.P368P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=97910681;refseq.start_2=97910681;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr13 98154613 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=573;Dels=0.00;HRun=1;HaplotypeScore=24.60;MQ=98.86;MQ0=0;OQ=11712.60;QD=20.44;RankSumP=0.315360;SB=-3946.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1347T>C;refseq.codonCoord=449;refseq.end=98154613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1424;refseq.name=NM_005073;refseq.name2=SLC15A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A449A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-70;refseq.start=98154613;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr13 98746098 . A G 354.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=10.26;MQ=98.73;MQ0=0;OQ=5922.71;QD=18.39;RankSumP=0.141938;SB=-1828.19;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_4=c.303T>C;refseq.codonCoord_4=101;refseq.end_1=98764341;refseq.end_2=98764341;refseq.end_3=98764341;refseq.end_4=98746098;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=477;refseq.name2_1=UBAC2;refseq.name2_2=UBAC2;refseq.name2_3=UBAC2;refseq.name2_4=GPR183;refseq.name_1=NM_177967;refseq.name_2=NM_001144072;refseq.name_3=NR_026644;refseq.name_4=NM_004951;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.D101D;refseq.referenceAA_4=Asp;refseq.referenceCodon_4=GAT;refseq.spliceDist_4=321;refseq.start_1=98688820;refseq.start_2=98694890;refseq.start_3=98694890;refseq.start_4=98746098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Asp;refseq.variantCodon_4=GAC;set=Intersection GT 0/1 chr13 98746179 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=1;HaplotypeScore=14.79;MQ=98.94;MQ0=0;OQ=6290.24;QD=18.45;RankSumP=0.0847443;SB=-1970.84;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_4=c.222G>T;refseq.codonCoord_4=74;refseq.end_1=98764341;refseq.end_2=98764341;refseq.end_3=98764341;refseq.end_4=98746179;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=396;refseq.name2_1=UBAC2;refseq.name2_2=UBAC2;refseq.name2_3=UBAC2;refseq.name2_4=GPR183;refseq.name_1=NM_177967;refseq.name_2=NM_001144072;refseq.name_3=NR_026644;refseq.name_4=NM_004951;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.V74V;refseq.referenceAA_4=Val;refseq.referenceCodon_4=GTG;refseq.spliceDist_4=240;refseq.start_1=98688820;refseq.start_2=98694890;refseq.start_3=98694890;refseq.start_4=98746179;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Val;refseq.variantCodon_4=GTT;set=Intersection GT 1/0 chr13 98986947 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.546T>G;refseq.codonCoord=182;refseq.end=98986947;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_004800;refseq.name2=TM9SF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C182W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-46;refseq.start=98986947;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr13 99316581 . A G 235.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=10.12;MQ=98.33;MQ0=0;OQ=8402.19;QD=35.60;RankSumP=1.00000;SB=-2693.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.721A>G;refseq.codonCoord=241;refseq.end=99316581;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_206808;refseq.name2=CLYBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I241V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-82;refseq.start=99316581;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr13 100085341 . C T 435.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.74;MQ0=0;OQ=4907.05;QD=41.94;RankSumP=1.00000;SB=-1630.09;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1255G>A;refseq.codingCoordStr_2=c.1312G>A;refseq.codonCoord_1=419;refseq.codonCoord_2=438;refseq.end_1=100085341;refseq.end_2=100085341;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1415;refseq.mrnaCoord_2=1625;refseq.name2_1=TMTC4;refseq.name2_2=TMTC4;refseq.name_1=NM_001079669;refseq.name_2=NM_032813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V419I;refseq.proteinCoordStr_2=p.V438I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=100085341;refseq.start_2=100085341;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr13 100085366 . T C 233.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=2785.17;QD=36.65;RankSumP=1.00000;SB=-745.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1230A>G;refseq.codingCoordStr_2=c.1287A>G;refseq.codonCoord_1=410;refseq.codonCoord_2=429;refseq.end_1=100085366;refseq.end_2=100085366;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1390;refseq.mrnaCoord_2=1600;refseq.name2_1=TMTC4;refseq.name2_2=TMTC4;refseq.name_1=NM_001079669;refseq.name_2=NM_032813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A410A;refseq.proteinCoordStr_2=p.A429A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=100085366;refseq.start_2=100085366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr13 100114519 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.235A>C;refseq.codingCoordStr_2=c.292A>C;refseq.codonCoord_1=79;refseq.codonCoord_2=98;refseq.end_1=100114519;refseq.end_2=100114519;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=395;refseq.mrnaCoord_2=605;refseq.name2_1=TMTC4;refseq.name2_2=TMTC4;refseq.name_1=NM_001079669;refseq.name_2=NM_032813;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T79P;refseq.proteinCoordStr_2=p.T98P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=100114519;refseq.start_2=100114519;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr13 100518301 . T G 427.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=5516.86;QD=42.11;RankSumP=1.00000;SB=-1999.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4416A>C;refseq.codonCoord=1472;refseq.end=100518301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4605;refseq.name=NM_052867;refseq.name2=NALCN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1472I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-31;refseq.start=100518301;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr13 100534076 . A G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=2;HaplotypeScore=1.15;MQ=98.88;MQ0=0;OQ=5306.79;QD=42.12;RankSumP=1.00000;SB=-1865.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3570T>C;refseq.codonCoord=1190;refseq.end=100534076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3759;refseq.name=NM_052867;refseq.name2=NALCN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1190L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-14;refseq.start=100534076;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr13 100626655 . T C 218.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=7.48;MQ=98.86;MQ0=0;OQ=4020.56;QD=22.84;RankSumP=0.183825;SB=-1078.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1836A>G;refseq.codonCoord=612;refseq.end=100626655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2025;refseq.name=NM_052867;refseq.name2=NALCN;refseq.positionType=CDS;refseq.proteinCoordStr=p.K612K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=100626655;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr13 100679778 . G A 110.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=99.00;MQ0=0;OQ=1837.12;QD=20.19;RankSumP=0.295173;SB=-677.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1593C>T;refseq.codonCoord=531;refseq.end=100679778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1782;refseq.name=NM_052867;refseq.name2=NALCN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V531V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-34;refseq.start=100679778;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr13 101018194 . G T 177.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.92;MQ0=0;OQ=3013.58;QD=17.22;RankSumP=0.447829;SB=-843.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.460G>T;refseq.codonCoord=154;refseq.end=101018194;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_004791;refseq.name2=ITGBL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A154S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=101018194;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr13 101025796 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.484T>G;refseq.codonCoord=162;refseq.end=101025796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_004791;refseq.name2=ITGBL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C162G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=21;refseq.start=101025796;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr13 101164826 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=649;Dels=0.00;HRun=1;HaplotypeScore=35.15;MQ=98.90;MQ0=0;OQ=13647.91;QD=21.03;RankSumP=8.56745e-05;SB=-4645.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1317A>G;refseq.codonCoord=439;refseq.end=101164826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_004791;refseq.name2=ITGBL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E439E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=38;refseq.start=101164826;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 0/1 chr13 102073387 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=557;Dels=0.00;HRun=0;HaplotypeScore=19.76;MQ=98.87;MQ0=0;OQ=9419.33;QD=16.91;RankSumP=0.00444971;SB=-3480.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.780T>C;refseq.codonCoord=260;refseq.end=102073387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=883;refseq.name=NM_003291;refseq.name2=TPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S260S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=102073387;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/0 chr13 102137366 . A G 290.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=98.70;MQ0=0;OQ=4493.94;QD=22.36;RankSumP=0.165764;SB=-1758.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.325T>C;refseq.codonCoord=109;refseq.end=102137366;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_001010977;refseq.name2=C13orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.L109L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=43;refseq.start=102137366;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr13 102144807 . C G 250.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=95.14;MQ0=0;OQ=1498.29;QD=39.43;RankSumP=1.00000;SB=-262.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.43G>C;refseq.codonCoord=15;refseq.end=102144807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_001010977;refseq.name2=C13orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.G15R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=49;refseq.start=102144807;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr13 102302518 . T C 392.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2835.66;QD=38.84;RankSumP=1.00000;SB=-923.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.138T>C;refseq.codonCoord=46;refseq.end=102302518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_000123;refseq.name2=ERCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H46H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=50;refseq.start=102302518;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr13 102325850 . G C 360.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5933.86;QD=45.30;RankSumP=1.00000;SB=-2292.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3157G>C;refseq.codonCoord=1053;refseq.end=102325850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3600;refseq.name=NM_000123;refseq.name2=ERCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1053R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=193;refseq.start=102325850;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr13 102325931 . G C 389.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2448.10;QD=40.80;RankSumP=1.00000;SB=-800.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.3238G>C;refseq.codonCoord=1080;refseq.end=102325931;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3681;refseq.name=NM_000123;refseq.name2=ERCC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1080R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=274;refseq.start=102325931;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr13 102503045 . A C 320.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.64;MQ0=0;OQ=8250.50;QD=41.46;RankSumP=1.00000;SB=-3482.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.511T>G;refseq.codonCoord=171;refseq.end=102503045;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1108;refseq.name=NM_000452;refseq.name2=SLC10A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S171A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=15;refseq.start=102503045;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr13 104917447 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=141;Dels=0.00;HRun=3;HaplotypeScore=2.78;MQ=98.45;MQ0=0;OQ=2308.06;QD=16.37;RankSumP=0.146236;SB=-1176.49;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.-105G>A;refseq.codingCoordStr_2=c.-125G>A;refseq.codingCoordStr_3=c.89G>A;refseq.codonCoord_3=30;refseq.end_1=104917447;refseq.end_2=104917447;refseq.end_3=104917447;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=208;refseq.mrnaCoord_2=402;refseq.mrnaCoord_3=363;refseq.name2_1=DAOA;refseq.name2_2=DAOA;refseq.name2_3=DAOA;refseq.name_1=NM_001161812;refseq.name_2=NM_001161814;refseq.name_3=NM_172370;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R30K;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=104917447;refseq.start_2=104917447;refseq.start_3=104917447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAG;set=Intersection GT 1/0 chr13 105943464 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=2;HaplotypeScore=5.28;MQ=98.06;MQ0=0;OQ=9939.37;QD=46.02;RankSumP=1.00000;SB=-4590.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.927C>G;refseq.codonCoord=309;refseq.end=105943464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=952;refseq.name=NM_004093;refseq.name2=EFNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G309G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=314;refseq.start=105943464;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr13 108294814 . T C 251.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=16.77;MQ=98.83;MQ0=0;OQ=6260.92;QD=17.06;RankSumP=0.151678;SB=-2467.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1154T>C;refseq.codonCoord=385;refseq.end=108294814;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1280;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M385T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-29;refseq.start=108294814;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr13 108412780 . A G 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=64;Dels=0.00;HRun=2;HaplotypeScore=11.86;MQ=98.19;MQ0=0;OQ=167.41;QD=2.62;RankSumP=0.00000;SB=65.25;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2097A>G;refseq.codonCoord=699;refseq.end=108412780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2223;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.G699G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=108412780;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 108459360 . C G 200.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.82;MQ0=0;OQ=6080.01;QD=24.62;RankSumP=0.438094;SB=-2523.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2491C>G;refseq.codonCoord=831;refseq.end=108459360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2617;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P831A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-39;refseq.start=108459360;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr13 108591247 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=47;Dels=0.00;HRun=4;HaplotypeScore=10.68;MQ=97.45;MQ0=0;OQ=736.51;QD=15.67;RankSumP=0.504537;SB=-260.71;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4620G>C;refseq.codonCoord=1540;refseq.end=108591247;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4746;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1540P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-479;refseq.start=108591247;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr13 108591475 . T C 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=95.76;MQ0=0;OQ=864.61;QD=32.02;RankSumP=1.00000;SB=-173.85;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4848T>C;refseq.codonCoord=1616;refseq.end=108591475;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4974;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1616V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-251;refseq.start=108591475;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr13 108591721 . A C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=99.00;MQ0=0;OQ=901.35;QD=32.19;RankSumP=1.00000;SB=-355.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.5094A>C;refseq.codonCoord=1698;refseq.end=108591721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5220;refseq.name=NM_015011;refseq.name2=MYO16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1698A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=108591721;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr13 109233915 . G A 5.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=72.01;QD=10.29;RankSumP=0.0666667;SB=-48.54;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2487C>T;refseq.codonCoord=829;refseq.end=109233915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3001;refseq.name=NM_003749;refseq.name2=IRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P829P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1526;refseq.start=109233915;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr13 109233954 . A G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=64.44;QD=8.06;RankSumP=0.571429;SB=-35.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2448T>C;refseq.codonCoord=816;refseq.end=109233954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2962;refseq.name=NM_003749;refseq.name2=IRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C816C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1565;refseq.start=109233954;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr13 109234233 . G A 32.23 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=88.33;MQ0=0;QD=3.58;RankSumP=0.400000;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2169C>T;refseq.codonCoord=723;refseq.end=109234233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2683;refseq.name=NM_003749;refseq.name2=IRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S723S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1844;refseq.start=109234233;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/0 chr13 109235803 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.599T>G;refseq.codonCoord=200;refseq.end=109235803;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1113;refseq.name=NM_003749;refseq.name2=IRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V200G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1113;refseq.start=109235803;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr13 109611710 . G A 364.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.29;MQ0=0;OQ=2127.46;QD=39.40;RankSumP=1.00000;SB=-396.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4470C>T;refseq.codonCoord=1490;refseq.end=109611710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4592;refseq.name=NM_001845;refseq.name2=COL4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1490A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=109611710;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr13 109637551 . T G 283.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.10;MQ0=0;OQ=3753.64;QD=36.80;RankSumP=1.00000;SB=-1145.15;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1663A>C;refseq.codonCoord=555;refseq.end=109637551;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_001845;refseq.name2=COL4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T555P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-66;refseq.start=109637551;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr13 109648843 . A G 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.01;HRun=4;HaplotypeScore=7.29;MQ=98.75;MQ0=0;OQ=6402.36;QD=35.77;RankSumP=1.00000;SB=-2997.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1257T>C;refseq.codonCoord=419;refseq.end=109648843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_001845;refseq.name2=COL4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P419P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-29;refseq.start=109648843;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr13 109875198 . G A 363.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.54;MQ0=0;OQ=2501.71;QD=41.70;RankSumP=1.00000;SB=-702.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.297G>A;refseq.codonCoord=99;refseq.end=109875198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T99T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-19;refseq.start=109875198;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr13 109900719 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=98.69;MQ0=0;OQ=1534.76;QD=15.66;RankSumP=0.385695;SB=-479.51;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1256C>T;refseq.codonCoord=419;refseq.end=109900719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A419V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=67;refseq.start=109900719;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr13 109909174 . G A 337.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=3996.80;QD=40.37;RankSumP=1.00000;SB=-1371.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.1488G>A;refseq.codonCoord=496;refseq.end=109909174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1777;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P496P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=56;refseq.start=109909174;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr13 109909236 . G A 231.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.21;MQ0=0;OQ=1071.53;QD=38.27;RankSumP=1.00000;SB=-180.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1550G>A;refseq.codonCoord=517;refseq.end=109909236;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1839;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R517K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-47;refseq.start=109909236;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr13 109919621 . C T 192.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.99;MQ0=0;OQ=1008.71;QD=32.54;RankSumP=1.00000;SB=-409.54;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.2152C>T;refseq.codonCoord=718;refseq.end=109919621;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2441;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P718S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-52;refseq.start=109919621;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr13 109952059 . T A 327.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.98;MQ0=0;OQ=8319.54;QD=38.34;RankSumP=1.00000;SB=-3121.15;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3804T>A;refseq.codonCoord=1268;refseq.end=109952059;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4093;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1268P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=44;refseq.start=109952059;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr13 109952062 . T C 413.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.98;MQ0=0;OQ=8346.10;QD=39.74;RankSumP=1.00000;SB=-3461.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.3807T>C;refseq.codonCoord=1269;refseq.end=109952062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4096;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1269G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=47;refseq.start=109952062;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr13 109953774 . T C 66.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=97.30;MQ0=0;OQ=842.16;QD=33.69;RankSumP=1.00000;SB=-439.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4083T>C;refseq.codonCoord=1361;refseq.end=109953774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4372;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1361T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=44;refseq.start=109953774;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr13 109953780 . G A 15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.87;MQ0=0;OQ=215.20;QD=10.76;RankSumP=0.688278;SB=-116.93;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4089G>A;refseq.codonCoord=1363;refseq.end=109953780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4378;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1363A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-50;refseq.start=109953780;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr13 109954500 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=3;HaplotypeScore=1.92;MQ=98.46;MQ0=0;OQ=4014.41;QD=38.97;RankSumP=1.00000;SB=-1851.86;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4290C>T;refseq.codonCoord=1430;refseq.end=109954500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4579;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1430F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=109954500;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr13 109956875 . A G 142.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=6.03;MQ=97.56;MQ0=0;OQ=2618.71;QD=31.55;RankSumP=1.00000;SB=-1232.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4515A>G;refseq.codonCoord=1505;refseq.end=109956875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4804;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1505P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-80;refseq.start=109956875;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr13 109958419 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=296;Dels=0.00;HRun=0;HaplotypeScore=7.38;MQ=98.85;MQ0=0;OQ=5040.35;QD=17.03;RankSumP=0.274176;SB=-1907.88;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.4731C>T;refseq.codonCoord=1577;refseq.end=109958419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5020;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1577P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=137;refseq.start=109958419;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr13 109962390 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.4990A>C;refseq.codonCoord=1664;refseq.end=109962390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5279;refseq.name=NM_001846;refseq.name2=COL4A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1664P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=109;refseq.start=109962390;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 109974394 . A G 229.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.29;MQ0=0;OQ=2379.97;QD=14.69;RankSumP=0.318483;SB=-1212.62;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.324T>C;refseq.codonCoord=108;refseq.end=109974394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_017817;refseq.name2=RAB20;refseq.positionType=CDS;refseq.proteinCoordStr=p.F108F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=152;refseq.start=109974394;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr13 110077827 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.427C>G;refseq.codonCoord=143;refseq.end=110077827;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=441;refseq.name=NM_018210;refseq.name2=CARKD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P143A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=41;refseq.start=110077827;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr13 110085036 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.563T>G;refseq.codonCoord=188;refseq.end=110085036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_018210;refseq.name2=CARKD;refseq.positionType=CDS;refseq.proteinCoordStr=p.V188G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=17;refseq.start=110085036;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr13 110117755 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=21.97;MQ=98.79;MQ0=0;OQ=15474.29;QD=41.60;RankSumP=1.00000;SB=-7552.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.852A>G;refseq.codonCoord=284;refseq.end=110117755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_024537;refseq.name2=CARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E284E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=67;refseq.start=110117755;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr13 110138102 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=42;Dels=0.00;HRun=2;HaplotypeScore=2.32;MQ=98.92;MQ0=0;OQ=786.11;QD=18.72;RankSumP=0.735509;SB=-348.39;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.538A>T;refseq.codonCoord=180;refseq.end=110138102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_024537;refseq.name2=CARS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I180F;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-34;refseq.start=110138102;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr13 110166165 . T G 38.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=11.89;MQ=95.90;MQ0=0;OQ=378.16;QD=14.54;RankSumP=1.00000;SB=-137.01;SecondBestBaseQ=2;refseq.changesAA_4=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_4=c.374T>G;refseq.codonCoord_4=125;refseq.end_1=110169566;refseq.end_2=110169566;refseq.end_3=110169566;refseq.end_4=110166165;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=806;refseq.name2_1=ING1;refseq.name2_2=ING1;refseq.name2_3=ING1;refseq.name2_4=ING1;refseq.name_1=NM_198217;refseq.name_2=NM_198218;refseq.name_3=NM_198219;refseq.name_4=NM_005537;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.L125R;refseq.referenceAA_4=Leu;refseq.referenceCodon_4=CTG;refseq.spliceDist_4=-192;refseq.start_1=110163336;refseq.start_2=110163945;refseq.start_3=110164644;refseq.start_4=110166165;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr13 110166317 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=9.40;MQ=96.09;MQ0=0;OQ=890.29;QD=9.37;RankSumP=0.322955;SB=-368.78;SecondBestBaseQ=22;refseq.changesAA_4=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.chr_4=chr13;refseq.codingCoordStr_4=c.526C>T;refseq.codonCoord_4=176;refseq.end_1=110169566;refseq.end_2=110169566;refseq.end_3=110169566;refseq.end_4=110166317;refseq.frame_4=0;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=958;refseq.name2_1=ING1;refseq.name2_2=ING1;refseq.name2_3=ING1;refseq.name2_4=ING1;refseq.name_1=NM_198217;refseq.name_2=NM_198218;refseq.name_3=NM_198219;refseq.name_4=NM_005537;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.L176L;refseq.referenceAA_4=Leu;refseq.referenceCodon_4=CTG;refseq.spliceDist_4=-40;refseq.start_1=110163336;refseq.start_2=110163945;refseq.start_3=110164644;refseq.start_4=110166317;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Leu;refseq.variantCodon_4=TTG;set=Intersection GT 0/1 chr13 110778538 . C T 344.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=98.68;MQ0=0;OQ=5713.47;QD=19.84;RankSumP=0.262502;SB=-1522.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.66C>T;refseq.codonCoord=22;refseq.end=110778538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_152324;refseq.name2=C13orf16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D22D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=110778538;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr13 112100389 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=64.88;MQ0=17;OQ=5840.69;QD=33.19;RankSumP=1.00000;SB=-2136.46;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=112100389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_145248;refseq.name2=C13orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.L59L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=26;refseq.start=112100389;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr13 112101471 . T A 430.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=5401.41;QD=39.72;RankSumP=1.00000;SB=-1685.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.332T>A;refseq.codonCoord=111;refseq.end=112101471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_145248;refseq.name2=C13orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.V111D;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-18;refseq.start=112101471;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr13 112188350 . A G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.2682T>C;refseq.codonCoord=894;refseq.end=112188350;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2869;refseq.name=NM_006322;refseq.name2=TUBGCP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R894R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=117;refseq.start=112188350;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr13 112258445 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.643C>A;refseq.codonCoord=215;refseq.end=112258445;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_006322;refseq.name2=TUBGCP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q215K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-79;refseq.start=112258445;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr13 112381878 . G C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.500003;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.184G>C;refseq.codonCoord=62;refseq.end=112381878;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_207440;refseq.name2=C13orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.D62H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-76;refseq.start=112381878;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr13 112381879 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.503798;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.185A>C;refseq.codonCoord=62;refseq.end=112381879;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_207440;refseq.name2=C13orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.D62A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-75;refseq.start=112381879;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr13 112527821 . A G 289.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.89;MQ0=0;OQ=13217.09;QD=38.09;RankSumP=1.00000;SB=-5075.43;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.949A>G;refseq.codingCoordStr_2=c.949A>G;refseq.codonCoord_1=317;refseq.codonCoord_2=317;refseq.end_1=112527821;refseq.end_2=112527821;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1037;refseq.mrnaCoord_2=1037;refseq.name2_1=ATP11A;refseq.name2_2=ATP11A;refseq.name_1=NM_015205;refseq.name_2=NM_032189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M317V;refseq.proteinCoordStr_2=p.M317V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=112527821;refseq.start_2=112527821;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr13 112556840 . G C 195.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.87;MQ0=0;OQ=729.51;QD=16.21;RankSumP=0.262518;SB=-173.79;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.2238G>C;refseq.codingCoordStr_2=c.2238G>C;refseq.codonCoord_1=746;refseq.codonCoord_2=746;refseq.end_1=112556840;refseq.end_2=112556840;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2326;refseq.mrnaCoord_2=2326;refseq.name2_1=ATP11A;refseq.name2_2=ATP11A;refseq.name_1=NM_015205;refseq.name_2=NM_032189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L746L;refseq.proteinCoordStr_2=p.L746L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=112556840;refseq.start_2=112556840;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr13 112584133 . T C 333.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.63;MQ0=0;OQ=4034.34;QD=34.48;RankSumP=1.00000;SB=-1663.10;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_2=c.3330T>C;refseq.codonCoord_2=1110;refseq.end_1=112584180;refseq.end_2=112584133;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3418;refseq.name2_1=ATP11A;refseq.name2_2=ATP11A;refseq.name_1=NM_015205;refseq.name_2=NM_032189;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N1110N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=112580629;refseq.start_2=112584133;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr13 112768477 . C T 201.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=98.49;MQ0=0;OQ=2074.56;QD=13.92;RankSumP=0.206934;SB=-930.30;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1044C>T;refseq.codingCoordStr_2=c.885C>T;refseq.codonCoord_1=348;refseq.codonCoord_2=295;refseq.end_1=112768477;refseq.end_2=112768477;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1066;refseq.mrnaCoord_2=1212;refseq.name2_1=MCF2L;refseq.name2_2=MCF2L;refseq.name_1=NM_001112732;refseq.name_2=NM_024979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T348T;refseq.proteinCoordStr_2=p.T295T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=112768477;refseq.start_2=112768477;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr13 112776782 . G A 198.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.96;MQ0=0;OQ=4395.81;QD=21.87;RankSumP=0.0485780;SB=-1818.63;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.1191G>A;refseq.codingCoordStr_2=c.1032G>A;refseq.codonCoord_1=397;refseq.codonCoord_2=344;refseq.end_1=112776782;refseq.end_2=112776782;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1213;refseq.mrnaCoord_2=1359;refseq.name2_1=MCF2L;refseq.name2_2=MCF2L;refseq.name_1=NM_001112732;refseq.name_2=NM_024979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A397A;refseq.proteinCoordStr_2=p.A344A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=112776782;refseq.start_2=112776782;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr13 112813156 . G T 24.46 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=93.63;MQ0=0;QD=4.08;SB=-26.35;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.282G>T;refseq.codingCoordStr_2=c.216G>T;refseq.codonCoord_1=94;refseq.codonCoord_2=72;refseq.end_1=112813156;refseq.end_2=112813156;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=333;refseq.mrnaCoord_2=267;refseq.name2_1=F7;refseq.name2_2=F7;refseq.name_1=NM_000131;refseq.name_2=NM_019616;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A94A;refseq.proteinCoordStr_2=p.A72A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=112813156;refseq.start_2=112813156;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3,2:5:-7.23,-1.51,-12.87:57.28 chr13 112849738 . C T 421.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.73;MQ0=0;OQ=7251.66;QD=40.06;RankSumP=1.00000;SB=-3447.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.792C>T;refseq.codonCoord=264;refseq.end=112849738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_000504;refseq.name2=F10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T264T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=45;refseq.start=112849738;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr13 112866901 . A G 357.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=97.90;MQ0=0;OQ=7645.27;QD=37.48;RankSumP=1.00000;SB=-3503.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.447A>G;refseq.codonCoord=149;refseq.end=112866901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_003891;refseq.name2=PROZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.T149T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-59;refseq.start=112866901;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr13 113013177 . C A 176.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=14.63;MQ=98.70;MQ0=0;OQ=13763.87;QD=35.75;RankSumP=1.00000;SB=-5481.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.556C>A;refseq.codonCoord=186;refseq.end=113013177;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_005561;refseq.name2=LAMP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R186R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=113013177;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr13 113360355 . T G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.79;MQ0=0;OQ=702.73;QD=21.96;RankSumP=1.00000;SB=-118.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr13;refseq.codingCoordStr=c.106A>C;refseq.codonCoord=36;refseq.end=113360355;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_000705;refseq.name2=ATP4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R36R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=113360355;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr13 113572892 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.580A>C;refseq.codonCoord=194;refseq.end=113572892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_000820;refseq.name2=GAS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T194P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=113572892;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr13 113576360 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.500036;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.775A>C;refseq.codingCoordStr_2=c.-45A>C;refseq.codonCoord_1=259;refseq.end_1=113576360;refseq.end_2=113576360;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=928;refseq.mrnaCoord_2=595;refseq.name2_1=GAS6;refseq.name2_2=GAS6;refseq.name_1=NM_000820;refseq.name_2=NM_001143945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.T259P;refseq.referenceAA_1=Thr;refseq.referenceCodon_1=ACC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=113576360;refseq.start_2=113576360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCC;set=soap GT 0/1 chr13 113783242 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr13;refseq.codingCoordStr=c.1853A>C;refseq.codonCoord=618;refseq.end=113783242;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1984;refseq.name=NM_007368;refseq.name2=RASA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D618A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=113783242;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr13 114065598 . G C 18 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=48.74;MQ0=2;OQ=72.92;QD=4.86;RankSumP=0.314286;SB=-48.91;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.208G>C;refseq.codingCoordStr_2=c.208G>C;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=114065598;refseq.end_2=114065598;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=245;refseq.mrnaCoord_2=245;refseq.name2_1=UPF3A;refseq.name2_2=UPF3A;refseq.name_1=NM_023011;refseq.name_2=NM_080687;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V70L;refseq.proteinCoordStr_2=p.V70L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=114065598;refseq.start_2=114065598;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 0/1 chr13 114065661 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.0779412;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.codingCoordStr_1=c.271C>T;refseq.codingCoordStr_2=c.271C>T;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=114065661;refseq.end_2=114065661;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=308;refseq.mrnaCoord_2=308;refseq.name2_1=UPF3A;refseq.name2_2=UPF3A;refseq.name_1=NM_023011;refseq.name_2=NM_080687;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L91L;refseq.proteinCoordStr_2=p.L91L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=114065661;refseq.start_2=114065661;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=FilteredInAll GT 0/1 chr13 114107953 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr13;refseq.chr_2=chr13;refseq.chr_3=chr13;refseq.codingCoordStr_1=c.534A>C;refseq.codingCoordStr_2=c.534A>C;refseq.codingCoordStr_3=c.534A>C;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.codonCoord_3=178;refseq.end_1=114107953;refseq.end_2=114107953;refseq.end_3=114107953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=827;refseq.mrnaCoord_3=866;refseq.name2_1=ZNF828;refseq.name2_2=ZNF828;refseq.name2_3=ZNF828;refseq.name_1=NM_001164144;refseq.name_2=NM_001164145;refseq.name_3=NM_032436;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K178N;refseq.proteinCoordStr_2=p.K178N;refseq.proteinCoordStr_3=p.K178N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=586;refseq.spliceDist_2=589;refseq.spliceDist_3=589;refseq.start_1=114107953;refseq.start_2=114107953;refseq.start_3=114107953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 0/1 chr14 18447614 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.405023;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.21G>T;refseq.codonCoord=7;refseq.end=18447614;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=21;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q7H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=21;refseq.start=18447614;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr14 18447690 . A T 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.495028;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.97A>T;refseq.codonCoord=33;refseq.end=18447690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=97;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T33S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=97;refseq.start=18447690;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 0/1 chr14 18447739 . C T 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.382672;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.146C>T;refseq.codonCoord=49;refseq.end=18447739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T49I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=146;refseq.start=18447739;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr14 18447781 . T C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.152563;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.188T>C;refseq.codonCoord=63;refseq.end=18447781;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V63A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=188;refseq.start=18447781;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr14 18447795 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.416575;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.202T>C;refseq.codonCoord=68;refseq.end=18447795;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.W68R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=202;refseq.start=18447795;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr14 18447831 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.427940;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.238A>G;refseq.codonCoord=80;refseq.end=18447831;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N80D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=238;refseq.start=18447831;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr14 18447859 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.186281;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.266T>C;refseq.codonCoord=89;refseq.end=18447859;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V89A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=266;refseq.start=18447859;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr14 18447862 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.360960;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.269C>T;refseq.codonCoord=90;refseq.end=18447862;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S90F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=269;refseq.start=18447862;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 0/1 chr14 18447907 . A C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.000245019;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.314A>C;refseq.codonCoord=105;refseq.end=18447907;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.K105T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=314;refseq.start=18447907;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 0/1 chr14 18447910 . A C 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.391047;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.317A>C;refseq.codonCoord=106;refseq.end=18447910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N106T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=317;refseq.start=18447910;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr14 18447938 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=5.79995e-05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.345G>A;refseq.codonCoord=115;refseq.end=18447938;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q115Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=345;refseq.start=18447938;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr14 18448030 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1889;Dels=0.00;HRun=0;HaplotypeScore=57.58;MQ=14.50;MQ0=1215;OQ=1276.05;QD=0.68;RankSumP=0.212190;SB=182.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.437T>A;refseq.codonCoord=146;refseq.end=18448030;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L146H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=437;refseq.start=18448030;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr14 18448060 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.360915;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.467G>A;refseq.codonCoord=156;refseq.end=18448060;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.C156Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=467;refseq.start=18448060;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chr14 18448135 . T A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.338845;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.542T>A;refseq.codonCoord=181;refseq.end=18448135;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.M181K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-440;refseq.start=18448135;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr14 18448189 . G T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1257;Dels=0.00;HRun=0;HaplotypeScore=27.24;MQ=2.75;MQ0=1241;OQ=330.66;QD=0.26;RankSumP=0.624830;SB=-0.98;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.596G>T;refseq.codonCoord=199;refseq.end=18448189;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R199L;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-386;refseq.start=18448189;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap-filterIngatk GT 0/1 chr14 18448312 rs61969158 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1185;Dels=0.00;HRun=1;HaplotypeScore=65.74;MQ=4.06;MQ0=1137;OQ=84.07;QD=0.07;SB=-42.99;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.719T>G;refseq.codonCoord=240;refseq.end=18448312;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V240G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-263;refseq.start=18448312;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:910,274:26:-19.52,-7.83,-80.21:99 chr14 18448395 rs2259909 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1373;Dels=0.00;HRun=1;HaplotypeScore=29.17;MQ=3.77;MQ0=1324;OQ=327.97;QD=0.24;SB=-69.83;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.802A>G;refseq.codonCoord=268;refseq.end=18448395;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S268G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-180;refseq.start=18448395;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1096,276:27:-44.21,-8.13,-63.48:99 chr14 18448459 . A T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.725514;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.866A>T;refseq.codonCoord=289;refseq.end=18448459;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E289V;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-116;refseq.start=18448459;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr14 18448484 . C A 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.450193;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.891C>A;refseq.codonCoord=297;refseq.end=18448484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T297T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-91;refseq.start=18448484;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 1/0 chr14 18448556 . A G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.110633;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.963A>G;refseq.codonCoord=321;refseq.end=18448556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_001013354;refseq.name2=OR11H12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G321G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-19;refseq.start=18448556;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr14 18623436 . C T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.20C>T;refseq.codonCoord_2=7;refseq.end_1=18623436;refseq.end_2=18623436;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=72;refseq.mrnaCoord_2=72;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S7L;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=18623436;refseq.start_2=18623436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTA;set=FilteredInAll GT 1/1 chr14 18623443 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.27G>A;refseq.codonCoord_2=9;refseq.end_1=18623443;refseq.end_2=18623443;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=79;refseq.mrnaCoord_2=79;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P9P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.start_1=18623443;refseq.start_2=18623443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr14 18623524 . G A 0.08 PASS AC=1;AF=0.50;AN=2;DP=823;Dels=0.00;HRun=0;HaplotypeScore=17.06;MQ=14.42;MQ0=668;OQ=478.44;QD=0.58;SB=-223.56;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.108G>A;refseq.codonCoord_2=36;refseq.end_1=18623524;refseq.end_2=18623524;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=160;refseq.mrnaCoord_2=160;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R36R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=160;refseq.spliceDist_2=160;refseq.start_1=18623524;refseq.start_2=18623524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=gatk GT:AD:DP:GL:GQ 0/1:682,141:62:-69.79,-18.67,-198.50:99 chr14 18623586 . T C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=758;Dels=0.00;HRun=1;HaplotypeScore=41.66;MQ=15.89;MQ0=424;OQ=1282.70;QD=1.69;RankSumP=0.585994;SB=-123.69;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.170T>C;refseq.codonCoord_2=57;refseq.end_1=18623586;refseq.end_2=18623586;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=222;refseq.mrnaCoord_2=222;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L57P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=222;refseq.spliceDist_2=222;refseq.start_1=18623586;refseq.start_2=18623586;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/0 chr14 18623642 . A G 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.506137;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.226A>G;refseq.codonCoord_2=76;refseq.end_1=18623642;refseq.end_2=18623642;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=278;refseq.mrnaCoord_2=278;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S76G;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=278;refseq.spliceDist_2=278;refseq.start_1=18623642;refseq.start_2=18623642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=soap GT 0/1 chr14 18623764 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1434;Dels=0.00;HRun=1;HaplotypeScore=37.49;MQ=24.30;MQ0=365;OQ=14406.13;QD=10.05;RankSumP=0.165932;SB=-5331.14;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.348A>G;refseq.codonCoord_2=116;refseq.end_1=18623764;refseq.end_2=18623764;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=400;refseq.mrnaCoord_2=400;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K116K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-174;refseq.spliceDist_2=-174;refseq.start_1=18623764;refseq.start_2=18623764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=soap-filterIngatk GT 0/1 chr14 18623795 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1281;Dels=0.00;HRun=0;HaplotypeScore=27.47;MQ=21.85;MQ0=500;OQ=5809.73;QD=4.54;RankSumP=0.0299116;SB=-1870.58;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.379G>A;refseq.codonCoord_2=127;refseq.end_1=18623795;refseq.end_2=18623795;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=431;refseq.mrnaCoord_2=431;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A127T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-143;refseq.spliceDist_2=-143;refseq.start_1=18623795;refseq.start_2=18623795;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=soap-filterIngatk GT 1/0 chr14 18623808 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1125;Dels=0.00;HRun=0;HaplotypeScore=30.86;MQ=19.20;MQ0=576;OQ=689.47;QD=0.61;RankSumP=0.471114;SB=-273.18;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.392C>T;refseq.codonCoord_2=131;refseq.end_1=18623808;refseq.end_2=18623808;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=444;refseq.mrnaCoord_2=444;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P131L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-130;refseq.spliceDist_2=-130;refseq.start_1=18623808;refseq.start_2=18623808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=soap-filterIngatk GT 0/1 chr14 18623845 . C A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=833;Dels=0.00;HRun=0;HaplotypeScore=18.12;MQ=7.17;MQ0=798;OQ=157.75;QD=0.19;RankSumP=0.343764;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.429C>A;refseq.codonCoord_2=143;refseq.end_1=18623845;refseq.end_2=18623845;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=481;refseq.mrnaCoord_2=481;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L143L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-93;refseq.spliceDist_2=-93;refseq.start_1=18623845;refseq.start_2=18623845;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr14 18623852 . G A 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=825;Dels=0.00;HRun=1;HaplotypeScore=12.20;MQ=6.84;MQ0=805;OQ=58.76;QD=0.07;RankSumP=0.399321;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.436G>A;refseq.codonCoord_2=146;refseq.end_1=18623852;refseq.end_2=18623852;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=488;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A146T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.start_1=18623852;refseq.start_2=18623852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr14 18628994 . G A 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.687888;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.640G>A;refseq.codonCoord_2=214;refseq.end_1=18628994;refseq.end_2=18628994;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=692;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V214I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=18628994;refseq.start_2=18628994;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=soap GT 1/0 chr14 18629004 . G A 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.650G>A;refseq.codonCoord_2=217;refseq.end_1=18629004;refseq.end_2=18629004;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=702;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R217Q;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=18629004;refseq.start_2=18629004;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=soap GT 1/1 chr14 18629050 . G A 11 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=232;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=1.88;MQ0=230;QD=0.04;RankSumP=0.451124;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.696G>A;refseq.codonCoord_2=232;refseq.end_1=18629050;refseq.end_2=18629050;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=748;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P232P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=18629050;refseq.start_2=18629050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr14 18633437 . G A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0227068;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.951G>A;refseq.codonCoord_2=317;refseq.end_1=18633437;refseq.end_2=18633437;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=1003;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S317S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=18633437;refseq.start_2=18633437;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=soap GT 1/0 chr14 18633532 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.261733;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1046A>G;refseq.codonCoord_2=349;refseq.end_1=18633532;refseq.end_2=18633532;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1098;refseq.mrnaCoord_2=1098;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H349R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=18633532;refseq.start_2=18633532;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=soap GT 0/1 chr14 18636036 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=16.55;MQ=23.17;MQ0=40;OQ=4899.40;QD=11.21;RankSumP=0.0539259;SB=-1246.52;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1080C>T;refseq.codonCoord_2=360;refseq.end_1=18636036;refseq.end_2=18636036;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1132;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y360Y;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=18636036;refseq.start_2=18636036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr14 18636051 . G A 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.463344;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1095G>A;refseq.codonCoord_2=365;refseq.end_1=18636051;refseq.end_2=18636051;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1147;refseq.mrnaCoord_2=1147;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M365I;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=18636051;refseq.start_2=18636051;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=soap GT 1/0 chr14 18641357 . T C 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.420870;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1136T>C;refseq.codonCoord_2=379;refseq.end_1=18641357;refseq.end_2=18641357;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1188;refseq.mrnaCoord_2=1188;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L379S;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=18641357;refseq.start_2=18641357;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=soap GT 1/0 chr14 18644243 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.287846;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1300C>A;refseq.codonCoord_2=434;refseq.end_1=18644243;refseq.end_2=18644243;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1352;refseq.mrnaCoord_2=1352;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P434T;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=18644243;refseq.start_2=18644243;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=soap GT 1/0 chr14 18644244 . C G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.286644;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1301C>G;refseq.codonCoord_2=434;refseq.end_1=18644244;refseq.end_2=18644244;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1353;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P434R;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=18644244;refseq.start_2=18644244;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=soap GT 1/0 chr14 18652995 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.423829;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1434G>A;refseq.codonCoord_2=478;refseq.end_1=18652995;refseq.end_2=18652995;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1535;refseq.mrnaCoord_2=1486;refseq.name2_1=POTEG;refseq.name2_2=POTEG;refseq.name_1=NR_027480;refseq.name_2=NM_001005356;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K478K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=18652995;refseq.start_2=18652995;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=soap GT 1/0 chr14 19286138 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=1;HaplotypeScore=17.58;MQ=86.07;MQ0=7;OQ=9208.49;QD=20.42;RankSumP=0.00963110;SB=-2519.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.712T>C;refseq.codonCoord=238;refseq.end=19286138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=712;refseq.name=NM_172194;refseq.name2=OR4Q3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F238L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-231;refseq.start=19286138;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 1/0 chr14 19365467 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=349;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=91.43;MQ0=19;OQ=7569.32;QD=21.69;RankSumP=0.111557;SB=-1798.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.20C>G;refseq.codonCoord=7;refseq.end=19365467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=20;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T7R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=20;refseq.start=19365467;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr14 19365603 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=679;Dels=0.00;HRun=0;HaplotypeScore=60.50;MQ=52.22;MQ0=93;OQ=7174.39;QD=10.57;RankSumP=0.382884;SB=-2639.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=19365603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D52D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=156;refseq.start=19365603;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 0/1 chr14 19365618 rs11621883 C A 1.86 PASS AC=1;AF=0.50;AN=2;DB;DP=736;Dels=0.00;HRun=0;HaplotypeScore=6.92;MQ=49.23;MQ0=141;OQ=5830.18;QD=7.92;SB=-1422.66;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.171C>A;refseq.codonCoord=57;refseq.end=19365618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A57A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=171;refseq.start=19365618;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=gatk GT:AD:DP:GL:GQ 0/1:550,186:543:-582.02,-163.51,-1570.59:99 chr14 19365619 rs11621884 C G 1.84 PASS AC=1;AF=0.50;AN=2;DB;DP=734;Dels=0.00;HRun=0;HaplotypeScore=6.92;MQ=48.09;MQ0=150;OQ=6829.17;QD=9.30;SB=-2050.98;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.172C>G;refseq.codonCoord=58;refseq.end=19365619;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P58A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=172;refseq.start=19365619;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:552,182:535:-681.92,-161.10,-1960.70:99 chr14 19365674 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=652;Dels=0.00;HRun=0;HaplotypeScore=20.56;MQ=37.03;MQ0=273;OQ=4792.00;QD=7.35;RankSumP=0.130350;SB=-1464.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.227T>C;refseq.codonCoord=76;refseq.end=19365674;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I76T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=227;refseq.start=19365674;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 19365844 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=921;Dels=0.00;HRun=1;HaplotypeScore=3.54;MQ=76.27;MQ0=45;OQ=15937.22;QD=17.30;RankSumP=0.486944;SB=-6599.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.397C>T;refseq.codonCoord=133;refseq.end=19365844;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=397;refseq.start=19365844;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr14 19365850 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=932;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=76.09;MQ0=35;OQ=18889.14;QD=20.27;RankSumP=0.482823;SB=-7441.75;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.403G>C;refseq.codonCoord=135;refseq.end=19365850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_001004723;refseq.name2=OR4N2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V135L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=403;refseq.start=19365850;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr14 19473749 . T C 122.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=724;Dels=0.00;HRun=0;HaplotypeScore=7.60;MQ=98.81;MQ0=0;OQ=12966.97;QD=17.91;RankSumP=0.192960;SB=-3788.03;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.84T>C;refseq.codonCoord=28;refseq.end=19473749;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=143;refseq.name=NM_001004063;refseq.name2=OR4K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F28F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=143;refseq.start=19473749;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr14 19474159 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.494A>C;refseq.codonCoord=165;refseq.end=19474159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_001004063;refseq.name2=OR4K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D165A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-524;refseq.start=19474159;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr14 19474576 . G A 314.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.73;MQ0=0;OQ=4486.99;QD=18.09;RankSumP=0.253920;SB=-1129.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.911G>A;refseq.codonCoord=304;refseq.end=19474576;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_001004063;refseq.name2=OR4K1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R304H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-107;refseq.start=19474576;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr14 19513712 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=3;HaplotypeScore=6.49;MQ=33.39;MQ0=276;OQ=6106.12;QD=11.37;RankSumP=0.257947;SB=-2640.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.195C>G;refseq.codonCoord=65;refseq.end=19513712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G65G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=195;refseq.start=19513712;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr14 19513783 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=582;Dels=0.00;HRun=0;HaplotypeScore=18.70;MQ=36.91;MQ0=301;OQ=5882.43;QD=10.11;RankSumP=0.183917;SB=-2189.81;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.266A>G;refseq.codonCoord=89;refseq.end=19513783;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.N89S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=266;refseq.start=19513783;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr14 19513852 . A T 169.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=20.38;MQ=67.16;MQ0=1;OQ=7887.08;QD=18.09;RankSumP=0.0700093;SB=-3250.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.335A>T;refseq.codonCoord=112;refseq.end=19513852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.E112V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=335;refseq.start=19513852;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr14 19513866 . T G 331.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=8.96;MQ=67.63;MQ0=6;OQ=8303.15;QD=18.70;RankSumP=0.290277;SB=-2955.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.349T>G;refseq.codonCoord=117;refseq.end=19513866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S117A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=349;refseq.start=19513866;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr14 19514033 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=782;Dels=0.00;HRun=1;HaplotypeScore=26.18;MQ=89.43;MQ0=24;OQ=12964.98;QD=16.58;RankSumP=0.000643538;SB=-4449.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.516A>C;refseq.codonCoord=172;refseq.end=19514033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S172S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=516;refseq.start=19514033;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 0/1 chr14 19514281 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=342;Dels=0.00;HRun=2;HaplotypeScore=8.12;MQ=70.67;MQ0=31;OQ=5540.08;QD=16.20;RankSumP=0.415258;SB=-2324.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.764C>A;refseq.codonCoord=255;refseq.end=19514281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A255E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-284;refseq.start=19514281;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr14 19514330 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=73.13;MQ0=5;OQ=8094.82;QD=20.65;RankSumP=0.277749;SB=-2804.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.813C>T;refseq.codonCoord=271;refseq.end=19514330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=813;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V271V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-235;refseq.start=19514330;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr14 19514428 . T C 73.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=501;Dels=0.00;HRun=1;HaplotypeScore=10.33;MQ=55.31;MQ0=106;OQ=6019.39;QD=12.01;RankSumP=0.00000;SB=-1360.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.911T>C;refseq.codonCoord=304;refseq.end=19514428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L304P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-137;refseq.start=19514428;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr14 19514447 . C G 113.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=22.21;MQ=59.21;MQ0=55;OQ=6822.95;QD=16.89;RankSumP=0.441893;SB=-1938.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.930C>G;refseq.codonCoord=310;refseq.end=19514447;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_001005486;refseq.name2=OR4K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.I310M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-118;refseq.start=19514447;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr14 19552311 . C T 200.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=1;HaplotypeScore=8.17;MQ=98.79;MQ0=0;OQ=4951.72;QD=16.18;RankSumP=0.316235;SB=-2006.08;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.882G>A;refseq.codonCoord=294;refseq.end=19552311;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_001004712;refseq.name2=OR4K14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E294E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-52;refseq.start=19552311;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 19571884 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=96.28;MQ0=0;OQ=309.13;QD=15.46;RankSumP=0.631222;SB=-148.72;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.874C>A;refseq.codonCoord=292;refseq.end=19571884;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=874;refseq.name=NM_001004714;refseq.name2=OR4K13;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q292K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-42;refseq.start=19571884;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr14 19571960 . C T 227.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=2133.86;QD=18.08;RankSumP=0.360902;SB=-356.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.798G>A;refseq.codonCoord=266;refseq.end=19571960;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_001004714;refseq.name2=OR4K13;refseq.positionType=CDS;refseq.proteinCoordStr=p.S266S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-118;refseq.start=19571960;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr14 19598047 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=21.80;MQ=98.70;MQ0=0;OQ=5673.79;QD=18.13;RankSumP=0.419116;SB=-1150.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4G>A;refseq.codonCoord=2;refseq.end=19598047;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=19598047;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 19598090 . G T 203.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=512;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.60;MQ0=0;OQ=8581.43;QD=16.76;RankSumP=1.11131e-05;SB=-2718.85;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.47G>T;refseq.codonCoord=16;refseq.end=19598090;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=47;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=47;refseq.start=19598090;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=filterInsoap-gatk GT 0/1 chr14 19598161 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=494;Dels=0.00;HRun=1;HaplotypeScore=24.85;MQ=98.36;MQ0=0;OQ=9386.94;QD=19.00;RankSumP=0.436786;SB=-3918.08;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.118A>G;refseq.codonCoord=40;refseq.end=19598161;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=118;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M40V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=118;refseq.start=19598161;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr14 19598199 . G T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=538;Dels=0.00;HRun=1;HaplotypeScore=6.58;MQ=97.33;MQ0=0;OQ=20681.17;QD=38.44;RankSumP=1.00000;SB=-10341.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.156G>T;refseq.codonCoord=52;refseq.end=19598199;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R52S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=156;refseq.start=19598199;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr14 19598202 . A G 203.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=535;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=97.36;MQ0=0;OQ=8694.36;QD=16.25;RankSumP=0.266434;SB=-3253.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.159A>G;refseq.codonCoord=53;refseq.end=19598202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S53S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=159;refseq.start=19598202;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr14 19598522 . T C 221.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=489;Dels=0.00;HRun=0;HaplotypeScore=13.33;MQ=98.94;MQ0=0;OQ=9458.11;QD=19.34;RankSumP=0.398973;SB=-2932.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.479T>C;refseq.codonCoord=160;refseq.end=19598522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_001004717;refseq.name2=OR4L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I160T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-461;refseq.start=19598522;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr14 19655882 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=4;HaplotypeScore=2.57;MQ=98.89;MQ0=0;OQ=6055.78;QD=20.95;RankSumP=0.428158;SB=-2198.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.477G>C;refseq.codonCoord=159;refseq.end=19655882;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_001004715;refseq.name2=OR4K17;refseq.positionType=CDS;refseq.proteinCoordStr=p.K159N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=477;refseq.start=19655882;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr14 19656272 . C T 284.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=98.82;MQ0=0;OQ=2794.95;QD=17.80;RankSumP=0.339836;SB=-696.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.867C>T;refseq.codonCoord=289;refseq.end=19656272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_001004715;refseq.name2=OR4K17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y289Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-166;refseq.start=19656272;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr14 19735630 . T A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=499;Dels=0.00;HRun=1;HaplotypeScore=9.02;MQ=98.15;MQ0=0;OQ=18970.26;QD=38.02;RankSumP=1.00000;SB=-7707.26;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.296T>A;refseq.codonCoord=99;refseq.end=19735630;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_001005503;refseq.name2=OR11G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I99N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=296;refseq.start=19735630;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 19735680 . G A 185.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=8.38;MQ=98.23;MQ0=0;OQ=7024.64;QD=39.46;RankSumP=1.00000;SB=-1547.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.346G>A;refseq.codonCoord=116;refseq.end=19735680;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_001005503;refseq.name2=OR11G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V116I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=346;refseq.start=19735680;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr14 19735727 . G C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=98.45;MQ0=0;OQ=4045.04;QD=48.74;RankSumP=1.00000;SB=-1226.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.393G>C;refseq.codonCoord=131;refseq.end=19735727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_001005503;refseq.name2=OR11G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S131S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=393;refseq.start=19735727;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr14 19736015 . C A 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=6;RankSumP=0.421186;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.681C>A;refseq.codonCoord=227;refseq.end=19736015;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_001005503;refseq.name2=OR11G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C227*;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-358;refseq.start=19736015;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr14 19762028 . T C 387.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.85;MQ0=0;OQ=10625.36;QD=39.94;RankSumP=1.00000;SB=-2550.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.320T>C;refseq.codonCoord=107;refseq.end=19762028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=320;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I107T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=320;refseq.start=19762028;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr14 19762131 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=17.33;MQ=98.74;MQ0=0;OQ=24182.82;QD=42.35;RankSumP=1.00000;SB=-9372.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.423C>T;refseq.codonCoord=141;refseq.end=19762131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y141Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=423;refseq.start=19762131;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr14 19762293 . G T 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=4591.47;QD=38.91;RankSumP=1.00000;SB=-1330.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.585G>T;refseq.codonCoord=195;refseq.end=19762293;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L195F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-409;refseq.start=19762293;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr14 19762414 . T C 410.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.88;MQ0=0;OQ=7422.36;QD=42.17;RankSumP=1.00000;SB=-3443.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.706T>C;refseq.codonCoord=236;refseq.end=19762414;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y236H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-288;refseq.start=19762414;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr14 19762435 . G C 140.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.89;MQ0=0;OQ=2901.54;QD=14.80;RankSumP=0.324280;SB=-1371.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.727G>C;refseq.codonCoord=243;refseq.end=19762435;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=727;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V243L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-267;refseq.start=19762435;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr14 19762483 . T C 381.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=9522.16;QD=38.55;RankSumP=1.00000;SB=-3005.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.775T>C;refseq.codonCoord=259;refseq.end=19762483;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_001004480;refseq.name2=OR11H6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C259R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-219;refseq.start=19762483;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr14 19834425 . A C 279.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.89;MQ0=0;OQ=2627.42;QD=16.12;RankSumP=0.105676;SB=-1040.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.660T>G;refseq.codonCoord=220;refseq.end=19834425;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_138376;refseq.name2=TTC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A220A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=21;refseq.start=19834425;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 19839876 . T C 118.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=1;HaplotypeScore=10.91;MQ=98.90;MQ0=0;OQ=14456.12;QD=38.24;RankSumP=1.00000;SB=-5977.88;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.140A>G;refseq.codonCoord=47;refseq.end=19839876;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_138376;refseq.name2=TTC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q47R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-45;refseq.start=19839876;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr14 19854286 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.237A>G;refseq.codingCoordStr_2=c.237A>G;refseq.codingCoordStr_3=c.237A>G;refseq.codingCoordStr_4=c.237A>G;refseq.codonCoord_1=79;refseq.codonCoord_2=79;refseq.codonCoord_3=79;refseq.codonCoord_4=79;refseq.end_1=19854286;refseq.end_2=19854286;refseq.end_3=19854286;refseq.end_4=19854286;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=712;refseq.mrnaCoord_2=512;refseq.mrnaCoord_3=886;refseq.mrnaCoord_4=849;refseq.name2_1=CCNB1IP1;refseq.name2_2=CCNB1IP1;refseq.name2_3=CCNB1IP1;refseq.name2_4=CCNB1IP1;refseq.name_1=NM_021178;refseq.name_2=NM_182849;refseq.name_3=NM_182851;refseq.name_4=NM_182852;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G79G;refseq.proteinCoordStr_2=p.G79G;refseq.proteinCoordStr_3=p.G79G;refseq.proteinCoordStr_4=p.G79G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.start_1=19854286;refseq.start_2=19854286;refseq.start_3=19854286;refseq.start_4=19854286;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr14 19883046 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.162A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=19883046;refseq.end_2=19883046;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=190;refseq.mrnaCoord_2=190;refseq.name2_1=PARP2;refseq.name2_2=PARP2;refseq.name_1=NM_001042618;refseq.name_2=NM_005484;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G54G;refseq.proteinCoordStr_2=p.G54G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-80;refseq.start_1=19883046;refseq.start_2=19883046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr14 19894021 . T C 231.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.91;MQ0=0;OQ=9924.22;QD=19.73;RankSumP=0.483994;SB=-3897.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1092T>C;refseq.codingCoordStr_2=c.1131T>C;refseq.codonCoord_1=364;refseq.codonCoord_2=377;refseq.end_1=19894021;refseq.end_2=19894021;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1159;refseq.name2_1=PARP2;refseq.name2_2=PARP2;refseq.name_1=NM_001042618;refseq.name_2=NM_005484;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y364Y;refseq.proteinCoordStr_2=p.Y377Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=19894021;refseq.start_2=19894021;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr14 19917078 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.5154T>G;refseq.codonCoord=1718;refseq.end=19917078;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5194;refseq.name=NM_007110;refseq.name2=TEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1718W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=27;refseq.start=19917078;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr14 19924574 . A G 238.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.74;MQ0=0;OQ=3565.17;QD=31.00;RankSumP=1.00000;SB=-1614.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2733T>C;refseq.codonCoord=911;refseq.end=19924574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2773;refseq.name=NM_007110;refseq.name2=TEP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H911H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=49;refseq.start=19924574;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr14 19986798 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=253;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=98.97;MQ0=0;OQ=4348.12;QD=17.19;RankSumP=0.353281;SB=-471.60;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.570A>G;refseq.codonCoord=190;refseq.end=19986798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=926;refseq.name=NM_017807;refseq.name2=OSGEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L190L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=13;refseq.start=19986798;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr14 19990090 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=25.60;MQ=97.20;MQ0=0;OQ=1577.55;QD=11.69;RankSumP=0.452700;SB=-515.19;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.294A>G;refseq.codonCoord=98;refseq.end=19990090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_017807;refseq.name2=OSGEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q98Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=59;refseq.start=19990090;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr14 19990112 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.272T>G;refseq.codonCoord=91;refseq.end=19990112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_017807;refseq.name2=OSGEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V91G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=37;refseq.start=19990112;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr14 19994028 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.174A>C;refseq.codingCoordStr_2=c.174A>C;refseq.codingCoordStr_3=c.174A>C;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.codonCoord_3=58;refseq.end_1=19994028;refseq.end_2=19994028;refseq.end_3=19994028;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=506;refseq.mrnaCoord_2=440;refseq.mrnaCoord_3=450;refseq.name2_1=APEX1;refseq.name2_2=APEX1;refseq.name2_3=APEX1;refseq.name_1=NM_001641;refseq.name_2=NM_080648;refseq.name_3=NM_080649;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K58N;refseq.proteinCoordStr_2=p.K58N;refseq.proteinCoordStr_3=p.K58N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.start_1=19994028;refseq.start_2=19994028;refseq.start_3=19994028;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 0/1 chr14 19994994 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=5.43;MQ=98.70;MQ0=0;OQ=805.82;QD=9.83;RankSumP=0.336242;SB=-129.10;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.444T>G;refseq.codingCoordStr_2=c.444T>G;refseq.codingCoordStr_3=c.444T>G;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.codonCoord_3=148;refseq.end_1=19994994;refseq.end_2=19994994;refseq.end_3=19994994;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=776;refseq.mrnaCoord_2=710;refseq.mrnaCoord_3=720;refseq.name2_1=APEX1;refseq.name2_2=APEX1;refseq.name2_3=APEX1;refseq.name_1=NM_001641;refseq.name_2=NM_080648;refseq.name_3=NM_080649;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D148E;refseq.proteinCoordStr_2=p.D148E;refseq.proteinCoordStr_3=p.D148E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceDist_3=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.spliceInfo_3=splice-acceptor_5;refseq.start_1=19994994;refseq.start_2=19994994;refseq.start_3=19994994;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr14 19998740 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.268A>C;refseq.codingCoordStr_2=c.247A>C;refseq.codonCoord_1=90;refseq.codonCoord_2=83;refseq.end_1=19998740;refseq.end_2=19998740;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=421;refseq.mrnaCoord_2=400;refseq.name2_1=TMEM55B;refseq.name2_2=TMEM55B;refseq.name_1=NM_001100814;refseq.name_2=NM_144568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T90P;refseq.proteinCoordStr_2=p.T83P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=19998740;refseq.start_2=19998740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr14 20094459 . A G 349.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=1.87;MQ=98.90;MQ0=0;OQ=8317.20;QD=41.59;RankSumP=1.00000;SB=-3168.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.codingCoordStr_1=c.610T>C;refseq.codingCoordStr_2=c.610T>C;refseq.codingCoordStr_3=c.610T>C;refseq.codingCoordStr_4=c.625T>C;refseq.codingCoordStr_5=c.625T>C;refseq.codingCoordStr_6=c.625T>C;refseq.codingCoordStr_7=c.625T>C;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.codonCoord_3=204;refseq.codonCoord_4=209;refseq.codonCoord_5=209;refseq.codonCoord_6=209;refseq.codonCoord_7=209;refseq.end_1=20094459;refseq.end_2=20094459;refseq.end_3=20094459;refseq.end_4=20094459;refseq.end_5=20094459;refseq.end_6=20094459;refseq.end_7=20094459;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=734;refseq.mrnaCoord_3=717;refseq.mrnaCoord_4=770;refseq.mrnaCoord_5=880;refseq.mrnaCoord_6=845;refseq.mrnaCoord_7=805;refseq.name2_1=RNASE9;refseq.name2_2=RNASE9;refseq.name2_3=RNASE9;refseq.name2_4=RNASE9;refseq.name2_5=RNASE9;refseq.name2_6=RNASE9;refseq.name2_7=RNASE9;refseq.name_1=NM_001001673;refseq.name_2=NM_001110356;refseq.name_3=NM_001110357;refseq.name_4=NM_001110358;refseq.name_5=NM_001110359;refseq.name_6=NM_001110360;refseq.name_7=NM_001110361;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.S204P;refseq.proteinCoordStr_2=p.S204P;refseq.proteinCoordStr_3=p.S204P;refseq.proteinCoordStr_4=p.S209P;refseq.proteinCoordStr_5=p.S209P;refseq.proteinCoordStr_6=p.S209P;refseq.proteinCoordStr_7=p.S209P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.referenceCodon_7=TCG;refseq.spliceDist_1=-368;refseq.spliceDist_2=-368;refseq.spliceDist_3=-368;refseq.spliceDist_4=-368;refseq.spliceDist_5=-368;refseq.spliceDist_6=-368;refseq.spliceDist_7=-368;refseq.start_1=20094459;refseq.start_2=20094459;refseq.start_3=20094459;refseq.start_4=20094459;refseq.start_5=20094459;refseq.start_6=20094459;refseq.start_7=20094459;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;refseq.variantCodon_6=CCG;refseq.variantCodon_7=CCG;set=Intersection GT 1/1 chr14 20094626 . A G 432.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=3706.01;QD=40.73;RankSumP=1.00000;SB=-1704.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.codingCoordStr_1=c.443T>C;refseq.codingCoordStr_2=c.443T>C;refseq.codingCoordStr_3=c.443T>C;refseq.codingCoordStr_4=c.458T>C;refseq.codingCoordStr_5=c.458T>C;refseq.codingCoordStr_6=c.458T>C;refseq.codingCoordStr_7=c.458T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.codonCoord_3=148;refseq.codonCoord_4=153;refseq.codonCoord_5=153;refseq.codonCoord_6=153;refseq.codonCoord_7=153;refseq.end_1=20094626;refseq.end_2=20094626;refseq.end_3=20094626;refseq.end_4=20094626;refseq.end_5=20094626;refseq.end_6=20094626;refseq.end_7=20094626;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=567;refseq.mrnaCoord_3=550;refseq.mrnaCoord_4=603;refseq.mrnaCoord_5=713;refseq.mrnaCoord_6=678;refseq.mrnaCoord_7=638;refseq.name2_1=RNASE9;refseq.name2_2=RNASE9;refseq.name2_3=RNASE9;refseq.name2_4=RNASE9;refseq.name2_5=RNASE9;refseq.name2_6=RNASE9;refseq.name2_7=RNASE9;refseq.name_1=NM_001001673;refseq.name_2=NM_001110356;refseq.name_3=NM_001110357;refseq.name_4=NM_001110358;refseq.name_5=NM_001110359;refseq.name_6=NM_001110360;refseq.name_7=NM_001110361;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.F148S;refseq.proteinCoordStr_2=p.F148S;refseq.proteinCoordStr_3=p.F148S;refseq.proteinCoordStr_4=p.F153S;refseq.proteinCoordStr_5=p.F153S;refseq.proteinCoordStr_6=p.F153S;refseq.proteinCoordStr_7=p.F153S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceAA_6=Phe;refseq.referenceAA_7=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.referenceCodon_5=TTT;refseq.referenceCodon_6=TTT;refseq.referenceCodon_7=TTT;refseq.spliceDist_1=457;refseq.spliceDist_2=457;refseq.spliceDist_3=457;refseq.spliceDist_4=457;refseq.spliceDist_5=457;refseq.spliceDist_6=457;refseq.spliceDist_7=457;refseq.start_1=20094626;refseq.start_2=20094626;refseq.start_3=20094626;refseq.start_4=20094626;refseq.start_5=20094626;refseq.start_6=20094626;refseq.start_7=20094626;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;refseq.variantCodon_7=TCT;set=Intersection GT 1/1 chr14 20178981 . C T 441.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.60;MQ0=0;OQ=3451.05;QD=39.67;RankSumP=1.00000;SB=-1670.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.710G>A;refseq.codonCoord=237;refseq.end=20178981;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_001001968;refseq.name2=OR6S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R237H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-287;refseq.start=20178981;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr14 20179010 . T A 441.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.57;MQ0=0;OQ=3945.50;QD=39.06;RankSumP=1.00000;SB=-1975.25;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.681A>T;refseq.codonCoord=227;refseq.end=20179010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_001001968;refseq.name2=OR6S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A227A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-316;refseq.start=20179010;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr14 20285837 . C T 231.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.76;MQ0=0;OQ=2170.04;QD=14.86;RankSumP=0.495837;SB=-1014.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.258C>T;refseq.codonCoord=86;refseq.end=20285837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_006683;refseq.name2=EDDM3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S86S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=284;refseq.start=20285837;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr14 20308158 . G A 303.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=98.49;MQ0=0;OQ=7774.26;QD=38.68;RankSumP=1.00000;SB=-2298.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.9G>A;refseq.codonCoord=3;refseq.end=20308158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_022360;refseq.name2=EDDM3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=27;refseq.start=20308158;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr14 20319964 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=98.69;MQ0=0;OQ=2202.79;QD=11.72;RankSumP=0.236480;SB=-671.30;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.266G>A;refseq.codonCoord=89;refseq.end=20319964;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_005615;refseq.name2=RNASE6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R89Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=271;refseq.start=20319964;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr14 20430056 . C G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=1;HaplotypeScore=6.74;MQ=98.62;MQ0=0;OQ=16368.37;QD=48.72;RankSumP=1.00000;SB=-7703.82;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.371C>G;refseq.codonCoord=124;refseq.end=20430056;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_002935;refseq.name2=RNASE3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T124R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-292;refseq.start=20430056;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr14 20530540 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=1;RankSumP=4.24489e-07;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.447C>G;refseq.codingCoordStr_2=c.447C>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=20530540;refseq.end_2=20530540;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=644;refseq.mrnaCoord_2=644;refseq.name2_1=METT11D1;refseq.name2_2=METT11D1;refseq.name_1=NM_001029991;refseq.name_2=NM_022734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S149R;refseq.proteinCoordStr_2=p.S149R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=20530540;refseq.start_2=20530540;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 1/0 chr14 20530588 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.495T>G;refseq.codingCoordStr_2=c.495T>G;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=20530588;refseq.end_2=20530588;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=692;refseq.mrnaCoord_2=692;refseq.name2_1=METT11D1;refseq.name2_2=METT11D1;refseq.name_1=NM_001029991;refseq.name_2=NM_022734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G165G;refseq.proteinCoordStr_2=p.G165G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=20530588;refseq.start_2=20530588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr14 20534712 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1267T>G;refseq.codingCoordStr_2=c.1265+2;refseq.codonCoord_1=423;refseq.end_1=20534712;refseq.end_2=20534712;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1464;refseq.name2_1=METT11D1;refseq.name2_2=METT11D1;refseq.name_1=NM_001029991;refseq.name_2=NM_022734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.proteinCoordStr_1=p.Y423D;refseq.referenceAA_1=Tyr;refseq.referenceCodon_1=TAT;refseq.spliceDist_1=187;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=20534712;refseq.start_2=20534712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantCodon_1=GAT;set=FilteredInAll GT 1/0 chr14 20537753 . T G 323.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=98.96;MQ0=0;OQ=4757.42;QD=16.99;RankSumP=0.362795;SB=-1195.14;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.128T>G;refseq.codonCoord_2=43;refseq.end_1=20537753;refseq.end_2=20537753;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=320;refseq.mrnaCoord_2=320;refseq.name2_1=SLC39A2;refseq.name2_2=SLC39A2;refseq.name_1=NR_033419;refseq.name_2=NM_014579;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L43R;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=20537753;refseq.start_2=20537753;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=Intersection GT 1/0 chr14 20581298 . G C 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=2;HaplotypeScore=2.11;MQ=98.66;MQ0=0;OQ=8540.51;QD=47.19;RankSumP=1.00000;SB=-3183.26;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.307G>C;refseq.codonCoord=103;refseq.end=20581298;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_032572;refseq.name2=RNASE7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A103P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=347;refseq.start=20581298;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr14 20581337 . C T 420.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.56;MQ0=0;OQ=4843.87;QD=38.75;RankSumP=1.00000;SB=-1131.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.346C>T;refseq.codonCoord=116;refseq.end=20581337;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=603;refseq.name=NM_032572;refseq.name2=RNASE7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H116Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=386;refseq.start=20581337;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr14 20595919 . C T 353.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.70;MQ0=0;OQ=8148.07;QD=38.80;RankSumP=1.00000;SB=-2637.27;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.28C>T;refseq.codonCoord=10;refseq.end=20595919;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=28;refseq.name=NM_138331;refseq.name2=RNASE8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P10S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=28;refseq.start=20595919;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr14 20612180 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.451C>A;refseq.codonCoord=151;refseq.end=20612180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=480;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q151K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=250;refseq.start=20612180;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr14 20619733 . G C 22.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.51;MQ0=0;OQ=61.31;QD=30.65;RankSumP=1.00000;SB=-54.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2866G>C;refseq.codonCoord=956;refseq.end=20619733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2895;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.V956L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=226;refseq.start=20619733;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr14 20620260 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=6.43297e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3269T>G;refseq.codonCoord=1090;refseq.end=20620260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3298;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1090G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=18;refseq.start=20620260;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 20620898 . G A 210.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=97.98;MQ0=0;OQ=12236.74;QD=40.93;RankSumP=1.00000;SB=-3833.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.3555G>A;refseq.codonCoord=1185;refseq.end=20620898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3584;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1185A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-19;refseq.start=20620898;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr14 20620909 . T C 212.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=9.83;MQ=97.95;MQ0=0;OQ=11104.87;QD=42.06;RankSumP=1.00000;SB=-2734.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3566T>C;refseq.codonCoord=1189;refseq.end=20620909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3595;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1189S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=20620909;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr14 20625321 . G A 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=107.64;QD=13.45;RankSumP=0.500000;SB=-28.50;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4246G>A;refseq.codonCoord=1416;refseq.end=20625321;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4275;refseq.name=NM_018071;refseq.name2=FLJ10357;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1416T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=20625321;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr14 20630860 . T G 45 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=1.80200e-09;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.436A>C;refseq.codingCoordStr_2=c.436A>C;refseq.codingCoordStr_3=c.436A>C;refseq.codonCoord_1=146;refseq.codonCoord_2=146;refseq.codonCoord_3=146;refseq.end_1=20630860;refseq.end_2=20630860;refseq.end_3=20630860;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=713;refseq.mrnaCoord_3=857;refseq.name2_1=ZNF219;refseq.name2_2=ZNF219;refseq.name2_3=ZNF219;refseq.name_1=NM_001101672;refseq.name_2=NM_001102454;refseq.name_3=NM_016423;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T146P;refseq.proteinCoordStr_2=p.T146P;refseq.proteinCoordStr_3=p.T146P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=430;refseq.spliceDist_2=430;refseq.spliceDist_3=430;refseq.start_1=20630860;refseq.start_2=20630860;refseq.start_3=20630860;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr14 20693130 . T C 388.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.99;MQ0=0;OQ=8386.79;QD=36.78;RankSumP=1.00000;SB=-3220.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.895A>G;refseq.codonCoord=299;refseq.end=20693130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=895;refseq.name=NM_001004731;refseq.name2=OR5AU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I299V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-195;refseq.start=20693130;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr14 20693488 . G A 327.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.65;MQ0=0;OQ=5480.52;QD=41.52;RankSumP=1.00000;SB=-1805.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.537C>T;refseq.codonCoord=179;refseq.end=20693488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_001004731;refseq.name2=OR5AU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N179N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=537;refseq.start=20693488;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr14 20693676 . G A 312.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=99.00;MQ0=0;OQ=7279.34;QD=43.59;RankSumP=1.00000;SB=-3441.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.349C>T;refseq.codonCoord=117;refseq.end=20693676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_001004731;refseq.name2=OR5AU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L117F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=349;refseq.start=20693676;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr14 20749550 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.379011;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.692A>T;refseq.codingCoordStr_2=c.653A>T;refseq.codingCoordStr_3=c.653A>T;refseq.codingCoordStr_4=c.692A>T;refseq.codonCoord_1=231;refseq.codonCoord_2=218;refseq.codonCoord_3=218;refseq.codonCoord_4=231;refseq.end_1=20749550;refseq.end_2=20749550;refseq.end_3=20749550;refseq.end_4=20749550;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=910;refseq.mrnaCoord_2=871;refseq.mrnaCoord_3=897;refseq.mrnaCoord_4=936;refseq.name2_1=HNRNPC;refseq.name2_2=HNRNPC;refseq.name2_3=HNRNPC;refseq.name2_4=HNRNPC;refseq.name_1=NM_001077442;refseq.name_2=NM_001077443;refseq.name_3=NM_004500;refseq.name_4=NM_031314;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D231V;refseq.proteinCoordStr_2=p.D218V;refseq.proteinCoordStr_3=p.D218V;refseq.proteinCoordStr_4=p.D231V;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.spliceDist_4=16;refseq.start_1=20749550;refseq.start_2=20749550;refseq.start_3=20749550;refseq.start_4=20749550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=FilteredInAll GT 1/0 chr14 20749892 . T C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.152669;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.593A>G;refseq.codingCoordStr_2=c.554A>G;refseq.codingCoordStr_3=c.554A>G;refseq.codingCoordStr_4=c.593A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=185;refseq.codonCoord_3=185;refseq.codonCoord_4=198;refseq.end_1=20749892;refseq.end_2=20749892;refseq.end_3=20749892;refseq.end_4=20749892;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=772;refseq.mrnaCoord_3=798;refseq.mrnaCoord_4=837;refseq.name2_1=HNRNPC;refseq.name2_2=HNRNPC;refseq.name2_3=HNRNPC;refseq.name2_4=HNRNPC;refseq.name_1=NM_001077442;refseq.name_2=NM_001077443;refseq.name_3=NM_004500;refseq.name_4=NM_031314;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K198R;refseq.proteinCoordStr_2=p.K185R;refseq.proteinCoordStr_3=p.K185R;refseq.proteinCoordStr_4=p.K198R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=20749892;refseq.start_2=20749892;refseq.start_3=20749892;refseq.start_4=20749892;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=FilteredInAll GT 1/0 chr14 20898969 . C G 306.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=98.70;MQ0=0;OQ=5152.95;QD=21.93;RankSumP=0.480972;SB=-1866.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1932G>C;refseq.codonCoord=644;refseq.end=20898969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2271;refseq.name=NM_007192;refseq.name2=SUPT16H;refseq.positionType=CDS;refseq.proteinCoordStr=p.G644G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=20898969;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr14 20900892 . T C 312.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=91.48;MQ0=0;OQ=7285.01;QD=19.12;RankSumP=0.425423;SB=-2050.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1566A>G;refseq.codonCoord=522;refseq.end=20900892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_007192;refseq.name2=SUPT16H;refseq.positionType=CDS;refseq.proteinCoordStr=p.P522P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=55;refseq.start=20900892;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr14 20930200 . G A 252.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.92;MQ0=0;OQ=1805.65;QD=15.98;RankSumP=0.342351;SB=-927.36;SecondBestBaseQ=33;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.end_1=20930495;refseq.end_2=20930495;refseq.end_3=20930200;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=53;refseq.name2_1=CHD8;refseq.name2_2=CHD8;refseq.name2_3=SNORD9;refseq.name_1=NM_001170629;refseq.name_2=NM_020920;refseq.name_3=NR_003029;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-51;refseq.start_1=20929956;refseq.start_2=20929956;refseq.start_3=20930200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/0 chr14 21030656 . T C 246.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=62.73;MQ0=8;OQ=7334.33;QD=18.90;RankSumP=0.149957;SB=-2479.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1041T>C;refseq.codonCoord=347;refseq.end=21030656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1144;refseq.name=NM_014828;refseq.name2=TOX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L347L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=150;refseq.start=21030656;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr14 21030809 . G A 133.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=96.94;MQ0=0;OQ=8238.79;QD=24.09;RankSumP=0.481238;SB=-1857.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1194G>A;refseq.codonCoord=398;refseq.end=21030809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_014828;refseq.name2=TOX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R398R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=303;refseq.start=21030809;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr14 21037756 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=577;Dels=0.00;HRun=1;HaplotypeScore=12.68;MQ=98.68;MQ0=0;OQ=12665.01;QD=21.95;RankSumP=0.455763;SB=-5054.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1335T>C;refseq.codonCoord=445;refseq.end=21037756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1427;refseq.name=NM_019852;refseq.name2=METTL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N445N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=21037756;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr14 21061466 . C G 309.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.34;MQ=98.38;MQ0=0;OQ=2294.60;QD=17.00;RankSumP=0.151550;SB=-1037.10;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2236G>C;refseq.codonCoord=746;refseq.end=21061466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2518;refseq.name=NM_005407;refseq.name2=SALL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G746R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=2163;refseq.start=21061466;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr14 21063338 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.22;MQ0=0;OQ=502.55;QD=13.96;RankSumP=0.0274069;SB=-113.58;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.364C>T;refseq.codonCoord=122;refseq.end=21063338;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_005407;refseq.name2=SALL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P122S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=291;refseq.start=21063338;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr14 21108002 . A C 259.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=98.16;MQ0=0;OQ=1733.68;QD=15.76;RankSumP=0.0599809;SB=-787.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.714T>G;refseq.codonCoord=238;refseq.end=21108002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_001005465;refseq.name2=OR10G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A238A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-229;refseq.start=21108002;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 21108050 . G T 178.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=98.58;MQ0=0;OQ=2135.16;QD=14.73;RankSumP=0.351398;SB=-848.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.666C>A;refseq.codonCoord=222;refseq.end=21108050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=666;refseq.name=NM_001005465;refseq.name2=OR10G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I222I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-277;refseq.start=21108050;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr14 21108272 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.444A>G;refseq.codonCoord=148;refseq.end=21108272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_001005465;refseq.name2=OR10G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G148G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=444;refseq.start=21108272;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 21108290 . G A 291.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.43;MQ0=0;OQ=2145.48;QD=16.13;RankSumP=0.126847;SB=-1010.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.426C>T;refseq.codonCoord=142;refseq.end=21108290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_001005465;refseq.name2=OR10G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S142S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=426;refseq.start=21108290;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr14 21108499 . T C 346.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.82;MQ0=0;OQ=7508.57;QD=40.81;RankSumP=1.00000;SB=-2987.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.217A>G;refseq.codonCoord=73;refseq.end=21108499;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_001005465;refseq.name2=OR10G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S73G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=217;refseq.start=21108499;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr14 21172279 rs35963889 C G 0.04 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=30.74;MQ0=16;OQ=116.98;QD=1.98;SB=-9.32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.560G>C;refseq.codonCoord=187;refseq.end=21172279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_001005466;refseq.name2=OR10G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R187P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-374;refseq.start=21172279;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=gatk GT:AD:DP:GL:GQ 0/1:32,27:34:-25.22,-10.24,-136.20:99 chr14 21172432 . T C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.104545;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.407A>G;refseq.codonCoord=136;refseq.end=21172432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_001005466;refseq.name2=OR10G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H136R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=407;refseq.start=21172432;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr14 21172452 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=51.02;MQ0=12;QD=0.56;RankSumP=0.512590;SB=77.27;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=21172452;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_001005466;refseq.name2=OR10G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L129L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=387;refseq.start=21172452;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/0 chr14 21172585 . C A 193.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=94.88;MQ0=6;OQ=3026.24;QD=15.44;RankSumP=0.254940;SB=-1302.50;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.254G>T;refseq.codonCoord=85;refseq.end=21172585;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_001005466;refseq.name2=OR10G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R85L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=254;refseq.start=21172585;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr14 21203488 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1154;Dels=0.00;HRun=0;HaplotypeScore=37.42;MQ=98.91;MQ0=0;OQ=47996.77;QD=41.59;RankSumP=1.00000;SB=-17334.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.352G>A;refseq.codonCoord=118;refseq.end=21203488;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_001001912;refseq.name2=OR4E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V118M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=352;refseq.start=21203488;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/1 chr14 21203689 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=551;Dels=0.00;HRun=0;HaplotypeScore=15.98;MQ=98.68;MQ0=0;OQ=11625.63;QD=21.10;RankSumP=0.231240;SB=-4912.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.553A>G;refseq.codonCoord=185;refseq.end=21203689;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_001001912;refseq.name2=OR4E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I185V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-390;refseq.start=21203689;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr14 21203837 . A G 228.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=98.32;MQ0=0;OQ=7828.90;QD=35.91;RankSumP=1.00000;SB=-3790.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.701A>G;refseq.codonCoord=234;refseq.end=21203837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=701;refseq.name=NM_001001912;refseq.name2=OR4E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q234R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-242;refseq.start=21203837;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr14 22113842 . G T 230.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.68;MQ0=0;OQ=5825.22;QD=40.17;RankSumP=1.00000;SB=-2626.19;SecondBestBaseQ=0;refseq.chr=chr14;refseq.codingCoordStr=c.*1C>A;refseq.end=22113842;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=423;refseq.name=NM_001344;refseq.name2=DAD1;refseq.positionType=utr3;refseq.spliceDist=-44;refseq.start=22113842;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr14 22113844 . C T 178.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.69;MQ0=0;OQ=2662.47;QD=17.99;RankSumP=0.422359;SB=-1042.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.341G>A;refseq.codonCoord=114;refseq.end=22113844;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_001344;refseq.name2=DAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.*114*;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=-46;refseq.start=22113844;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 0/1 chr14 22142801 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=6.56551e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.617T>G;refseq.codonCoord=206;refseq.end=22142801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=686;refseq.name=NM_022060;refseq.name2=ABHD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V206G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-24;refseq.start=22142801;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr14 22148650 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=98.74;MQ0=0;OQ=3059.38;QD=16.81;RankSumP=0.0452182;SB=-880.41;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.933A>T;refseq.codonCoord=311;refseq.end=22148650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_022060;refseq.name2=ABHD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R311R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=22148650;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr14 22305648 . G A 361.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.70;MQ0=0;OQ=4238.18;QD=19.62;RankSumP=0.464125;SB=-1571.61;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.78G>A;refseq.codonCoord=26;refseq.end=22305648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_005015;refseq.name2=OXA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L26L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=78;refseq.start=22305648;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr14 22306364 . C T 89.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=6.41;MQ=98.62;MQ0=0;OQ=2860.86;QD=29.49;RankSumP=1.00000;SB=-633.64;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.311C>T;refseq.codonCoord=104;refseq.end=22306364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_005015;refseq.name2=OXA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A104V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=68;refseq.start=22306364;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr14 22310168 . T A 304.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=11.00;MQ=98.44;MQ0=0;OQ=4776.86;QD=16.82;RankSumP=0.193607;SB=-1324.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1221T>A;refseq.codonCoord=407;refseq.end=22310168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_005015;refseq.name2=OXA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R407R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-62;refseq.start=22310168;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr14 22310567 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.105302;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1448A>G;refseq.codonCoord=483;refseq.end=22310567;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1448;refseq.name=NM_005015;refseq.name2=OXA1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.K483R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=85;refseq.start=22310567;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 0/1 chr14 22312668 . T C 343.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.87;MQ0=0;OQ=7601.59;QD=39.39;RankSumP=1.00000;SB=-2133.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1527A>G;refseq.codingCoordStr_2=c.1527A>G;refseq.codingCoordStr_3=c.1527A>G;refseq.codonCoord_1=509;refseq.codonCoord_2=509;refseq.codonCoord_3=509;refseq.end_1=22312668;refseq.end_2=22312668;refseq.end_3=22312668;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1734;refseq.mrnaCoord_2=1869;refseq.mrnaCoord_3=2113;refseq.name2_1=SLC7A7;refseq.name2_2=SLC7A7;refseq.name2_3=SLC7A7;refseq.name_1=NM_001126105;refseq.name_2=NM_001126106;refseq.name_3=NM_003982;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K509K;refseq.proteinCoordStr_2=p.K509K;refseq.proteinCoordStr_3=p.K509K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.start_1=22312668;refseq.start_2=22312668;refseq.start_3=22312668;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr14 22317952 . A G 226.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.74;MQ0=0;OQ=2829.51;QD=14.01;RankSumP=0.273634;SB=-1115.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.660T>C;refseq.codingCoordStr_2=c.660T>C;refseq.codingCoordStr_3=c.660T>C;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.codonCoord_3=220;refseq.end_1=22317952;refseq.end_2=22317952;refseq.end_3=22317952;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=867;refseq.mrnaCoord_2=1002;refseq.mrnaCoord_3=1246;refseq.name2_1=SLC7A7;refseq.name2_2=SLC7A7;refseq.name2_3=SLC7A7;refseq.name_1=NM_001126105;refseq.name_2=NM_001126106;refseq.name_3=NM_003982;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G220G;refseq.proteinCoordStr_2=p.G220G;refseq.proteinCoordStr_3=p.G220G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=22317952;refseq.start_2=22317952;refseq.start_3=22317952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 0/1 chr14 22368975 . G T 40.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=95.97;MQ0=0;OQ=666.83;QD=23.82;RankSumP=1.00000;SB=-213.65;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_6=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.codingCoordStr_1=c.14G>T;refseq.codingCoordStr_2=c.14G>T;refseq.codingCoordStr_3=c.-347G>T;refseq.codingCoordStr_4=c.-273G>T;refseq.codingCoordStr_5=c.-172G>T;refseq.codingCoordStr_6=c.14G>T;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.codonCoord_6=5;refseq.end_1=22368975;refseq.end_2=22368975;refseq.end_3=22368975;refseq.end_4=22368975;refseq.end_5=22368975;refseq.end_6=22368975;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=44;refseq.mrnaCoord_2=44;refseq.mrnaCoord_3=44;refseq.mrnaCoord_4=44;refseq.mrnaCoord_5=44;refseq.mrnaCoord_6=44;refseq.name2_1=MRPL52;refseq.name2_2=MRPL52;refseq.name2_3=MRPL52;refseq.name2_4=MRPL52;refseq.name2_5=MRPL52;refseq.name2_6=MRPL52;refseq.name_1=NM_178336;refseq.name_2=NM_180982;refseq.name_3=NM_181304;refseq.name_4=NM_181305;refseq.name_5=NM_181306;refseq.name_6=NM_181307;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=utr5;refseq.positionType_5=utr5;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G5V;refseq.proteinCoordStr_2=p.G5V;refseq.proteinCoordStr_6=p.G5V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_6=GGG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.spliceDist_5=-23;refseq.spliceDist_6=-15;refseq.start_1=22368975;refseq.start_2=22368975;refseq.start_3=22368975;refseq.start_4=22368975;refseq.start_5=22368975;refseq.start_6=22368975;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_6=GTG;set=Intersection GT 1/1 chr14 22369126 . T C 175.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.86;MQ0=0;OQ=806.88;QD=32.28;RankSumP=1.00000;SB=-216.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_6=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.codingCoordStr_1=c.56T>C;refseq.codingCoordStr_2=c.53T>C;refseq.codingCoordStr_3=c.-196T>C;refseq.codingCoordStr_4=c.-122T>C;refseq.codingCoordStr_5=c.-122T>C;refseq.codingCoordStr_6=c.56T>C;refseq.codonCoord_1=19;refseq.codonCoord_2=18;refseq.codonCoord_6=19;refseq.end_1=22369126;refseq.end_2=22369126;refseq.end_3=22369126;refseq.end_4=22369126;refseq.end_5=22369126;refseq.end_6=22369126;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=86;refseq.mrnaCoord_2=83;refseq.mrnaCoord_3=195;refseq.mrnaCoord_4=195;refseq.mrnaCoord_5=94;refseq.mrnaCoord_6=86;refseq.name2_1=MRPL52;refseq.name2_2=MRPL52;refseq.name2_3=MRPL52;refseq.name2_4=MRPL52;refseq.name2_5=MRPL52;refseq.name2_6=MRPL52;refseq.name_1=NM_178336;refseq.name_2=NM_180982;refseq.name_3=NM_181304;refseq.name_4=NM_181305;refseq.name_5=NM_181306;refseq.name_6=NM_181307;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=utr5;refseq.positionType_5=utr5;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V19A;refseq.proteinCoordStr_2=p.V18A;refseq.proteinCoordStr_6=p.V19A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_6=GTA;refseq.spliceDist_1=28;refseq.spliceDist_2=25;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.spliceDist_5=28;refseq.spliceDist_6=28;refseq.start_1=22369126;refseq.start_2=22369126;refseq.start_3=22369126;refseq.start_4=22369126;refseq.start_5=22369126;refseq.start_6=22369126;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_6=GCA;set=Intersection GT 1/1 chr14 22375888 . C T 404.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=96.96;MQ0=0;OQ=3223.06;QD=39.79;RankSumP=1.00000;SB=-833.36;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.22C>T;refseq.codonCoord=8;refseq.end=22375888;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_004995;refseq.name2=MMP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P8S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-87;refseq.start=22375888;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr14 22382330 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.713T>G;refseq.codonCoord=238;refseq.end=22382330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=947;refseq.name=NM_004995;refseq.name2=MMP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V238G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=25;refseq.start=22382330;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 22382434 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=646;Dels=0.00;HRun=1;HaplotypeScore=41.30;MQ=98.45;MQ0=0;OQ=10875.64;QD=16.84;RankSumP=0.443262;SB=-3667.25;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.817G>A;refseq.codonCoord=273;refseq.end=22382434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1051;refseq.name=NM_004995;refseq.name2=MMP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.D273N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-34;refseq.start=22382434;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 22382763 . T C 182.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.51;MQ0=0;OQ=6265.25;QD=15.10;RankSumP=8.54528e-05;SB=-1653.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.855T>C;refseq.codonCoord=285;refseq.end=22382763;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_004995;refseq.name2=MMP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G285G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=22382763;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr14 22414160 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.272T>C;refseq.codonCoord=91;refseq.end=22414160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_014045;refseq.name2=LRP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L91P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=57;refseq.start=22414160;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr14 22441108 . A G 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.699443;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1167T>C;refseq.codingCoordStr_2=c.1065T>C;refseq.codingCoordStr_3=c.1119T>C;refseq.codonCoord_1=389;refseq.codonCoord_2=355;refseq.codonCoord_3=373;refseq.end_1=22441108;refseq.end_2=22441108;refseq.end_3=22441108;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1366;refseq.mrnaCoord_2=1264;refseq.mrnaCoord_3=1318;refseq.name2_1=RBM23;refseq.name2_2=RBM23;refseq.name2_3=RBM23;refseq.name_1=NM_001077351;refseq.name_2=NM_001077352;refseq.name_3=NM_018107;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A389A;refseq.proteinCoordStr_2=p.A355A;refseq.proteinCoordStr_3=p.A373A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.start_1=22441108;refseq.start_2=22441108;refseq.start_3=22441108;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=soap GT 0/1 chr14 22444275 . G A 206.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=3.32;MQ=98.86;MQ0=0;OQ=5732.33;QD=21.96;RankSumP=0.232598;SB=-2378.58;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.594C>T;refseq.codingCoordStr_2=c.492C>T;refseq.codingCoordStr_3=c.546C>T;refseq.codonCoord_1=198;refseq.codonCoord_2=164;refseq.codonCoord_3=182;refseq.end_1=22444275;refseq.end_2=22444275;refseq.end_3=22444275;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=793;refseq.mrnaCoord_2=691;refseq.mrnaCoord_3=745;refseq.name2_1=RBM23;refseq.name2_2=RBM23;refseq.name2_3=RBM23;refseq.name_1=NM_001077351;refseq.name_2=NM_001077352;refseq.name_3=NM_018107;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I198I;refseq.proteinCoordStr_2=p.I164I;refseq.proteinCoordStr_3=p.I182I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=22444275;refseq.start_2=22444275;refseq.start_3=22444275;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr14 22444702 . C T 139.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=11.20;MQ=98.63;MQ0=0;OQ=1632.33;QD=13.95;RankSumP=0.420106;SB=-451.85;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.408G>A;refseq.codingCoordStr_3=c.360G>A;refseq.codonCoord_2=136;refseq.codonCoord_3=120;refseq.end_1=22445233;refseq.end_2=22444702;refseq.end_3=22444702;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=607;refseq.mrnaCoord_3=559;refseq.name2_1=RBM23;refseq.name2_2=RBM23;refseq.name2_3=RBM23;refseq.name_1=NM_001077352;refseq.name_2=NM_001077351;refseq.name_3=NM_018107;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R136R;refseq.proteinCoordStr_3=p.R120R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=22444513;refseq.start_2=22444702;refseq.start_3=22444702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr14 22537504 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=99.00;MQ0=0;OQ=652.21;QD=13.59;RankSumP=0.560150;SB=-54.01;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.569C>T;refseq.codingCoordStr_2=c.569C>T;refseq.codingCoordStr_3=c.569C>T;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.codonCoord_3=190;refseq.end_1=22537504;refseq.end_2=22537504;refseq.end_3=22537504;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=753;refseq.mrnaCoord_3=999;refseq.name2_1=C14orf93;refseq.name2_2=C14orf93;refseq.name2_3=C14orf93;refseq.name_1=NM_001130706;refseq.name_2=NM_001130708;refseq.name_3=NM_021944;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A190V;refseq.proteinCoordStr_2=p.A190V;refseq.proteinCoordStr_3=p.A190V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=22537504;refseq.start_2=22537504;refseq.start_3=22537504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr14 22572570 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.43T>G;refseq.codingCoordStr_2=c.352T>G;refseq.codingCoordStr_3=c.352T>G;refseq.codonCoord_1=15;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=22572570;refseq.end_2=22572570;refseq.end_3=22572570;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=616;refseq.mrnaCoord_3=616;refseq.name2_1=PSMB5;refseq.name2_2=PSMB5;refseq.name2_3=PSMB5;refseq.name_1=NM_001130725;refseq.name_2=NM_001144932;refseq.name_3=NM_002797;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L15V;refseq.proteinCoordStr_2=p.L118V;refseq.proteinCoordStr_3=p.L118V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=154;refseq.spliceDist_2=154;refseq.spliceDist_3=154;refseq.start_1=22572570;refseq.start_2=22572570;refseq.start_3=22572570;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr14 22588758 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=596.96;QD=10.47;RankSumP=0.628278;SB=-217.59;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1629A>G;refseq.codingCoordStr_2=c.1515A>G;refseq.codonCoord_1=543;refseq.codonCoord_2=505;refseq.end_1=22588758;refseq.end_2=22588758;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1889;refseq.mrnaCoord_2=1775;refseq.name2_1=CDH24;refseq.name2_2=CDH24;refseq.name_1=NM_022478;refseq.name_2=NM_144985;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R543R;refseq.proteinCoordStr_2=p.R505R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=22588758;refseq.start_2=22588758;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr14 22600462 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=36.98;MQ=97.62;MQ0=0;OQ=2768.42;QD=10.22;RankSumP=0.343285;SB=-315.28;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.3444A>G;refseq.codingCoordStr_2=c.3363A>G;refseq.codingCoordStr_3=c.1302A>G;refseq.codingCoordStr_4=c.1209A>G;refseq.codingCoordStr_5=c.3483A>G;refseq.codonCoord_1=1148;refseq.codonCoord_2=1121;refseq.codonCoord_3=434;refseq.codonCoord_4=403;refseq.codonCoord_5=1161;refseq.end_1=22600462;refseq.end_2=22600462;refseq.end_3=22600462;refseq.end_4=22600462;refseq.end_5=22600462;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3772;refseq.mrnaCoord_2=3691;refseq.mrnaCoord_3=1330;refseq.mrnaCoord_4=1392;refseq.mrnaCoord_5=3811;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name2_4=ACIN1;refseq.name2_5=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_001164816;refseq.name_4=NM_001164817;refseq.name_5=NM_014977;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S1148S;refseq.proteinCoordStr_2=p.S1121S;refseq.proteinCoordStr_3=p.S434S;refseq.proteinCoordStr_4=p.S403S;refseq.proteinCoordStr_5=p.S1161S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.spliceDist_1=-116;refseq.spliceDist_2=-116;refseq.spliceDist_3=-116;refseq.spliceDist_4=-116;refseq.spliceDist_5=-116;refseq.start_1=22600462;refseq.start_2=22600462;refseq.start_3=22600462;refseq.start_4=22600462;refseq.start_5=22600462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;set=Intersection GT 1/0 chr14 22601571 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.3020T>G;refseq.codingCoordStr_2=c.2939T>G;refseq.codingCoordStr_3=c.878T>G;refseq.codingCoordStr_4=c.785T>G;refseq.codingCoordStr_5=c.3059T>G;refseq.codonCoord_1=1007;refseq.codonCoord_2=980;refseq.codonCoord_3=293;refseq.codonCoord_4=262;refseq.codonCoord_5=1020;refseq.end_1=22601571;refseq.end_2=22601571;refseq.end_3=22601571;refseq.end_4=22601571;refseq.end_5=22601571;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3348;refseq.mrnaCoord_2=3267;refseq.mrnaCoord_3=906;refseq.mrnaCoord_4=968;refseq.mrnaCoord_5=3387;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name2_4=ACIN1;refseq.name2_5=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_001164816;refseq.name_4=NM_001164817;refseq.name_5=NM_014977;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V1007G;refseq.proteinCoordStr_2=p.V980G;refseq.proteinCoordStr_3=p.V293G;refseq.proteinCoordStr_4=p.V262G;refseq.proteinCoordStr_5=p.V1020G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.spliceInfo_5=splice-acceptor_2;refseq.start_1=22601571;refseq.start_2=22601571;refseq.start_3=22601571;refseq.start_4=22601571;refseq.start_5=22601571;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;set=FilteredInAll GT 0/1 chr14 22618638 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.459703;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1920G>T;refseq.codingCoordStr_2=c.1800G>T;refseq.codingCoordStr_3=c.1920G>T;refseq.codonCoord_1=640;refseq.codonCoord_2=600;refseq.codonCoord_3=640;refseq.end_1=22618638;refseq.end_2=22618638;refseq.end_3=22618638;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2248;refseq.mrnaCoord_2=2128;refseq.mrnaCoord_3=2248;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R640S;refseq.proteinCoordStr_2=p.R600S;refseq.proteinCoordStr_3=p.R640S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=22618638;refseq.start_2=22618638;refseq.start_3=22618638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=soap GT 1/0 chr14 22618640 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.166458;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1918A>C;refseq.codingCoordStr_2=c.1798A>C;refseq.codingCoordStr_3=c.1918A>C;refseq.codonCoord_1=640;refseq.codonCoord_2=600;refseq.codonCoord_3=640;refseq.end_1=22618640;refseq.end_2=22618640;refseq.end_3=22618640;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2246;refseq.mrnaCoord_2=2126;refseq.mrnaCoord_3=2246;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R640R;refseq.proteinCoordStr_2=p.R600R;refseq.proteinCoordStr_3=p.R640R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=22618640;refseq.start_2=22618640;refseq.start_3=22618640;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=soap GT 1/0 chr14 22619159 . A G 115.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=1809.04;QD=15.87;RankSumP=0.311993;SB=-584.85;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1399T>C;refseq.codingCoordStr_2=c.1279T>C;refseq.codingCoordStr_3=c.1399T>C;refseq.codonCoord_1=467;refseq.codonCoord_2=427;refseq.codonCoord_3=467;refseq.end_1=22619159;refseq.end_2=22619159;refseq.end_3=22619159;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1727;refseq.mrnaCoord_2=1607;refseq.mrnaCoord_3=1727;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S467P;refseq.proteinCoordStr_2=p.S427P;refseq.proteinCoordStr_3=p.S467P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-564;refseq.spliceDist_2=-564;refseq.spliceDist_3=-564;refseq.start_1=22619159;refseq.start_2=22619159;refseq.start_3=22619159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 0/1 chr14 22619219 . C G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=5;HaplotypeScore=5.29;MQ=98.89;MQ0=0;OQ=5963.55;QD=47.71;RankSumP=1.00000;SB=-2907.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1339G>C;refseq.codingCoordStr_2=c.1219G>C;refseq.codingCoordStr_3=c.1339G>C;refseq.codonCoord_1=447;refseq.codonCoord_2=407;refseq.codonCoord_3=447;refseq.end_1=22619219;refseq.end_2=22619219;refseq.end_3=22619219;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1547;refseq.mrnaCoord_3=1667;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A447P;refseq.proteinCoordStr_2=p.A407P;refseq.proteinCoordStr_3=p.A447P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-624;refseq.spliceDist_2=-624;refseq.spliceDist_3=-624;refseq.start_1=22619219;refseq.start_2=22619219;refseq.start_3=22619219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr14 22619625 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=518;Dels=0.00;HRun=0;HaplotypeScore=22.14;MQ=98.88;MQ0=0;OQ=10623.10;QD=20.51;RankSumP=0.393284;SB=-4446.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.933A>G;refseq.codingCoordStr_2=c.813A>G;refseq.codingCoordStr_3=c.933A>G;refseq.codonCoord_1=311;refseq.codonCoord_2=271;refseq.codonCoord_3=311;refseq.end_1=22619625;refseq.end_2=22619625;refseq.end_3=22619625;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1261;refseq.mrnaCoord_2=1141;refseq.mrnaCoord_3=1261;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164814;refseq.name_2=NM_001164815;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I311M;refseq.proteinCoordStr_2=p.I271M;refseq.proteinCoordStr_3=p.I311M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=234;refseq.spliceDist_2=234;refseq.spliceDist_3=234;refseq.start_1=22619625;refseq.start_2=22619625;refseq.start_3=22619625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr14 22629099 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.542C>T;refseq.codingCoordStr_3=c.542C>T;refseq.codonCoord_2=181;refseq.codonCoord_3=181;refseq.end_1=22629560;refseq.end_2=22629099;refseq.end_3=22629099;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=870;refseq.mrnaCoord_3=870;refseq.name2_1=ACIN1;refseq.name2_2=ACIN1;refseq.name2_3=ACIN1;refseq.name_1=NM_001164815;refseq.name_2=NM_001164814;refseq.name_3=NM_014977;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S181F;refseq.proteinCoordStr_3=p.S181F;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=22620896;refseq.start_2=22629099;refseq.start_3=22629099;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=FilteredInAll GT 1/0 chr14 22705383 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr14;refseq.codingCoordStr=c.356+2;refseq.end=22705383;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_012244;refseq.name2=SLC7A8;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=22705383;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr14 22846939 . G A 235.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=1821.80;QD=33.74;RankSumP=1.00000;SB=-424.68;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.123G>A;refseq.codonCoord=41;refseq.end=22846939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_004050;refseq.name2=BCL2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P41P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=131;refseq.start=22846939;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr14 22847214 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=96.34;MQ0=0;OQ=1713.78;QD=29.55;RankSumP=1.00000;SB=-246.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.398A>G;refseq.codonCoord=133;refseq.end=22847214;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=586;refseq.name=NM_004050;refseq.name2=BCL2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q133R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-35;refseq.start=22847214;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr14 22862476 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.585T>G;refseq.codonCoord=195;refseq.end=22862476;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1867;refseq.name=NM_004643;refseq.name2=PABPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C195W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=51;refseq.start=22862476;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr14 22932437 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3059A>C;refseq.codonCoord=1020;refseq.end=22932437;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3130;refseq.name=NM_002471;refseq.name2=MYH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1020T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-47;refseq.start=22932437;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr14 22937789 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1879A>C;refseq.codonCoord=627;refseq.end=22937789;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1950;refseq.name=NM_002471;refseq.name2=MYH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T627P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-13;refseq.start=22937789;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr14 22962728 . A G 265.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=468;Dels=0.00;HRun=0;HaplotypeScore=12.08;MQ=98.82;MQ0=0;OQ=8845.58;QD=18.90;RankSumP=0.349943;SB=-3647.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2967T>C;refseq.codonCoord=989;refseq.end=22962728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3073;refseq.name=NM_000257;refseq.name2=MYH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I989I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=45;refseq.start=22962728;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr14 22968867 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=230;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.32;MQ0=0;OQ=4435.23;QD=19.28;RankSumP=0.251401;SB=-1341.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1095G>A;refseq.codonCoord=365;refseq.end=22968867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_000257;refseq.name2=MYH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K365K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-44;refseq.start=22968867;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr14 22972593 . G A 266.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=10.04;MQ=98.74;MQ0=0;OQ=10036.23;QD=22.50;RankSumP=0.257969;SB=-3449.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.189C>T;refseq.codonCoord=63;refseq.end=22972593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_000257;refseq.name2=MYH7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T63T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=22972593;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 23014345 . G A 279.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.43;MQ0=0;OQ=3383.83;QD=42.83;RankSumP=1.00000;SB=-175.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.270G>A;refseq.codingCoordStr_2=c.270G>A;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=23014345;refseq.end_2=23014345;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=297;refseq.name2_1=NGDN;refseq.name2_2=NGDN;refseq.name_1=NM_001042635;refseq.name_2=NM_015514;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V90V;refseq.proteinCoordStr_2=p.V90V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=23014345;refseq.start_2=23014345;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr14 23014354 . C A 140.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.25;MQ0=0;OQ=2328.88;QD=38.81;RankSumP=1.00000;SB=-84.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.279C>A;refseq.codingCoordStr_2=c.279C>A;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=23014354;refseq.end_2=23014354;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=306;refseq.mrnaCoord_2=306;refseq.name2_1=NGDN;refseq.name2_2=NGDN;refseq.name_1=NM_001042635;refseq.name_2=NM_015514;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R93R;refseq.proteinCoordStr_2=p.R93R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=23014354;refseq.start_2=23014354;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr14 23096129 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.323C>G;refseq.codingCoordStr_3=c.323C>G;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.end_1=23097733;refseq.end_2=23096129;refseq.end_3=23096129;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=693;refseq.mrnaCoord_3=1092;refseq.name2_1=THTPA;refseq.name2_2=THTPA;refseq.name2_3=THTPA;refseq.name_1=NR_023314;refseq.name_2=NM_001126339;refseq.name_3=NM_024328;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A108G;refseq.proteinCoordStr_3=p.A108G;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_2=-225;refseq.spliceDist_3=-225;refseq.start_1=23095403;refseq.start_2=23096129;refseq.start_3=23096129;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr14 23102867 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.84;MQ0=0;OQ=816.69;QD=15.41;RankSumP=0.355559;SB=-192.87;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1130C>T;refseq.codonCoord=377;refseq.end=23102867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1467;refseq.name=NM_003917;refseq.name2=AP1G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S377F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=39;refseq.start=23102867;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr14 23183164 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.390993;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.493G>T;refseq.codingCoordStr_2=c.493G>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=23183164;refseq.end_2=23183164;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=940;refseq.mrnaCoord_2=940;refseq.name2_1=DHRS2;refseq.name2_2=DHRS2;refseq.name_1=NM_005794;refseq.name_2=NM_182908;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G165C;refseq.proteinCoordStr_2=p.G165C;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=23183164;refseq.start_2=23183164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=FilteredInAll GT 0/1 chr14 23504984 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=512;Dels=0.00;HRun=0;HaplotypeScore=11.53;MQ=62.03;MQ0=227;OQ=6002.47;QD=11.72;RankSumP=0.240202;SB=-2157.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.483C>T;refseq.codonCoord=161;refseq.end=23504984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_021004;refseq.name2=DHRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G161G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=23504984;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr14 23528002 . G C 192.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.57;MQ0=0;OQ=2240.17;QD=45.72;RankSumP=1.00000;SB=-1107.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.6G>C;refseq.codonCoord=2;refseq.end=23528002;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=136;refseq.name=NM_198083;refseq.name2=DHRS4L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-123;refseq.start=23528002;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr14 23529322 . G T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.218182;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.220G>T;refseq.codonCoord=74;refseq.end=23529322;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_198083;refseq.name2=DHRS4L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A74S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-87;refseq.start=23529322;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr14 23596046 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=2.37;MQ=98.48;MQ0=0;OQ=756.64;QD=9.58;RankSumP=0.0444270;SB=-323.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=23596046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_138360;refseq.name2=LRRC16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P345P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-28;refseq.start=23596046;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr14 23596878 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.00172219;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1167C>G;refseq.codonCoord=389;refseq.end=23596878;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1324;refseq.name=NM_138360;refseq.name2=LRRC16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C389W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=27;refseq.start=23596878;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr14 23599730 . A G 288.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=97.85;MQ0=0;OQ=3174.73;QD=32.73;RankSumP=1.00000;SB=-1212.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2115A>G;refseq.codonCoord=705;refseq.end=23599730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2272;refseq.name=NM_138360;refseq.name2=LRRC16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L705L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=54;refseq.start=23599730;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr14 23603379 . C A 184.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.88;MQ0=0;OQ=1323.61;QD=16.34;RankSumP=0.269697;SB=-305.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3064C>A;refseq.codonCoord=1022;refseq.end=23603379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3221;refseq.name=NM_138360;refseq.name2=LRRC16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1022M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-17;refseq.start=23603379;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr14 23613648 . G C 281.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=98.66;MQ0=0;OQ=7746.05;QD=23.05;RankSumP=0.439925;SB=-2851.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.567G>C;refseq.codonCoord=189;refseq.end=23613648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=666;refseq.name=NM_006032;refseq.name2=CPNE6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L189L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-16;refseq.start=23613648;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr14 23615206 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=24.89;MQ=97.70;MQ0=0;OQ=1557.37;QD=11.29;RankSumP=0.113241;SB=-403.96;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.933T>C;refseq.codonCoord=311;refseq.end=23615206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_006032;refseq.name2=CPNE6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I311I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=23615206;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr14 23615215 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=24.40;MQ=97.75;MQ0=0;OQ=1859.47;QD=13.67;RankSumP=0.0651392;SB=-639.08;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.942C>T;refseq.codonCoord=314;refseq.end=23615215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_006032;refseq.name2=CPNE6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T314T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=18;refseq.start=23615215;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr14 23637338 . A C 257.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.94;MQ0=0;OQ=3150.91;QD=36.22;RankSumP=1.00000;SB=-1244.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.362A>C;refseq.codingCoordStr_2=c.362A>C;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=23637338;refseq.end_2=23637338;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=494;refseq.mrnaCoord_2=494;refseq.name2_1=PCK2;refseq.name2_2=PCK2;refseq.name_1=NM_001018073;refseq.name_2=NM_004563;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q121P;refseq.proteinCoordStr_2=p.Q121P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=23637338;refseq.start_2=23637338;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr14 23670853 . G C 16.76 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=301;Dels=0.00;HRun=2;HaplotypeScore=51.43;MQ=97.46;MQ0=0;QD=0.06;RankSumP=0.00000;SB=300.03;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.241G>C;refseq.codonCoord=81;refseq.end=23670853;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_203402;refseq.name2=FITM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A81P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-26;refseq.start=23670853;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 23684201 . T G 97.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=92.63;MQ0=0;OQ=3953.45;QD=39.93;RankSumP=1.00000;SB=-1782.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.266A>C;refseq.codonCoord=89;refseq.end=23684201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_002818;refseq.name2=PSME2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H89P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=23684201;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr14 23716254 . C A 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.522455;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.689C>A;refseq.codingCoordStr_2=c.689C>A;refseq.codonCoord_1=230;refseq.codonCoord_2=230;refseq.end_1=23716254;refseq.end_2=23716254;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1217;refseq.mrnaCoord_2=1116;refseq.name2_1=REC8;refseq.name2_2=REC8;refseq.name_1=NM_001048205;refseq.name_2=NM_005132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A230D;refseq.proteinCoordStr_2=p.A230D;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=23716254;refseq.start_2=23716254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr14 23716255 . T A 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.344456;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.690T>A;refseq.codingCoordStr_2=c.690T>A;refseq.codonCoord_1=230;refseq.codonCoord_2=230;refseq.end_1=23716255;refseq.end_2=23716255;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1218;refseq.mrnaCoord_2=1117;refseq.name2_1=REC8;refseq.name2_2=REC8;refseq.name_1=NM_001048205;refseq.name_2=NM_005132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A230A;refseq.proteinCoordStr_2=p.A230A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=23716255;refseq.start_2=23716255;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/0 chr14 23717654 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=2;HaplotypeScore=6.98;MQ=98.02;MQ0=0;OQ=1136.32;QD=12.63;RankSumP=0.0258376;SB=-456.27;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.996T>C;refseq.codingCoordStr_2=c.996T>C;refseq.codonCoord_1=332;refseq.codonCoord_2=332;refseq.end_1=23717654;refseq.end_2=23717654;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1524;refseq.mrnaCoord_2=1423;refseq.name2_1=REC8;refseq.name2_2=REC8;refseq.name_1=NM_001048205;refseq.name_2=NM_005132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P332P;refseq.proteinCoordStr_2=p.P332P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=23717654;refseq.start_2=23717654;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr14 23723363 . G C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.07;MQ0=0;OQ=103.34;QD=6.89;RankSumP=0.346154;SB=-37.86;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1738C>G;refseq.codonCoord=580;refseq.end=23723363;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1869;refseq.name=NM_024658;refseq.name2=IPO4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P580A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-20;refseq.start=23723363;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr14 23731790 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=7.96445e-07;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.871A>G;refseq.codingCoordStr_2=c.871A>G;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.end_1=23731790;refseq.end_2=23731790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1219;refseq.mrnaCoord_2=1219;refseq.name2_1=TM9SF1;refseq.name2_2=TM9SF1;refseq.name_1=NM_001014842;refseq.name_2=NM_006405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K291E;refseq.proteinCoordStr_2=p.K291E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.start_1=23731790;refseq.start_2=23731790;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr14 23749717 . C T 265.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=8.58;MQ=98.83;MQ0=0;OQ=15630.99;QD=41.68;RankSumP=1.00000;SB=-3503.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.586G>A;refseq.codonCoord=196;refseq.end=23749717;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_014169;refseq.name2=CHMP4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G196R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-18;refseq.start=23749717;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr14 23752454 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.96;MQ0=0;OQ=428.44;QD=11.27;RankSumP=0.732814;SB=-32.42;SecondBestBaseQ=27;refseq.chr=chr14;refseq.codingCoordStr=c.160+1;refseq.end=23752454;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_014169;refseq.name2=CHMP4A;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=23752454;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr14 23801249 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.150C>G;refseq.codonCoord=50;refseq.end=23801249;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_000359;refseq.name2=TGM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C50W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=152;refseq.start=23801249;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr14 23839716 . T G 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.0720244;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.510T>G;refseq.codonCoord=170;refseq.end=23839716;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_174913;refseq.name2=C14orf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.D170E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-188;refseq.start=23839716;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr14 23841096 . T C 324.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.99;MQ0=0;OQ=6793.58;QD=39.96;RankSumP=1.00000;SB=-3069.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.894T>C;refseq.codonCoord=298;refseq.end=23841096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_174913;refseq.name2=C14orf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.H298H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-57;refseq.start=23841096;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr14 23855624 . C T 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=88.90;QD=29.63;RankSumP=1.00000;SB=-52.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.927C>T;refseq.codingCoordStr_2=c.927C>T;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.end_1=23855624;refseq.end_2=23855624;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1248;refseq.mrnaCoord_2=2856;refseq.name2_1=LTB4R;refseq.name2_2=LTB4R;refseq.name_1=NM_001143919;refseq.name_2=NM_181657;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G309G;refseq.proteinCoordStr_2=p.G309G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=942;refseq.spliceDist_2=942;refseq.start_1=23855624;refseq.start_2=23855624;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 1/1 chr14 23873538 . A C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=3;RankSumP=0.221892;SecondBestBaseQ=11;refseq.chr=chr14;refseq.codingCoordStr=c.159+2;refseq.end=23873538;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_139247;refseq.name2=ADCY4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=23873538;refseq.transcriptStrand=-;set=soap GT 0/1 chr14 23908923 . G C 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=0.81;MQ=98.78;MQ0=0;OQ=888.83;QD=34.19;RankSumP=1.00000;SB=-165.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.668G>C;refseq.codingCoordStr_2=c.479G>C;refseq.codonCoord_1=223;refseq.codonCoord_2=160;refseq.end_1=23908923;refseq.end_2=23908923;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=800;refseq.name2_1=NFATC4;refseq.name2_2=NFATC4;refseq.name_1=NM_001136022;refseq.name_2=NM_004554;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G223A;refseq.proteinCoordStr_2=p.G160A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=379;refseq.spliceDist_2=379;refseq.start_1=23908923;refseq.start_2=23908923;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr14 23913460 . T C 158.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.21;MQ0=0;OQ=1212.53;QD=34.64;RankSumP=1.00000;SB=-537.44;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2010T>C;refseq.codingCoordStr_2=c.1821T>C;refseq.codonCoord_1=670;refseq.codonCoord_2=607;refseq.end_1=23913460;refseq.end_2=23913460;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2126;refseq.mrnaCoord_2=2142;refseq.name2_1=NFATC4;refseq.name2_2=NFATC4;refseq.name_1=NM_001136022;refseq.name_2=NM_004554;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T670T;refseq.proteinCoordStr_2=p.T607T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=23913460;refseq.start_2=23913460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr14 23915681 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=131;Dels=0.00;HRun=3;HaplotypeScore=14.37;MQ=98.34;MQ0=0;OQ=4496.93;QD=34.33;RankSumP=1.00000;SB=-1986.03;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2587T>C;refseq.codingCoordStr_2=c.2398T>C;refseq.codonCoord_1=863;refseq.codonCoord_2=800;refseq.end_1=23915681;refseq.end_2=23915681;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2703;refseq.mrnaCoord_2=2719;refseq.name2_1=NFATC4;refseq.name2_2=NFATC4;refseq.name_1=NM_001136022;refseq.name_2=NM_004554;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S863P;refseq.proteinCoordStr_2=p.S800P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=342;refseq.spliceDist_2=-244;refseq.start_1=23915681;refseq.start_2=23915681;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr14 23916718 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=2.66826e-09;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.*729C>T;refseq.codingCoordStr_2=c.2676C>T;refseq.codonCoord_2=892;refseq.end_1=23916718;refseq.end_2=23916718;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3740;refseq.mrnaCoord_2=2997;refseq.name2_1=NFATC4;refseq.name2_2=NFATC4;refseq.name_1=NM_001136022;refseq.name_2=NM_004554;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F892F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=1379;refseq.spliceDist_2=35;refseq.start_1=23916718;refseq.start_2=23916718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr14 23971116 . G T 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=1012.57;QD=34.92;RankSumP=1.00000;SB=-417.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.809G>T;refseq.codonCoord=270;refseq.end=23971116;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_015299;refseq.name2=KHNYN;refseq.positionType=CDS;refseq.proteinCoordStr=p.W270L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-541;refseq.start=23971116;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr14 23971273 . C T 160.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=265.90;QD=16.62;RankSumP=0.703702;SB=-149.12;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.966C>T;refseq.codonCoord=322;refseq.end=23971273;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_015299;refseq.name2=KHNYN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H322H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-384;refseq.start=23971273;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr14 24045275 . G T 240.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=8046.13;QD=36.24;RankSumP=1.00000;SB=-3982.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.399C>A;refseq.codonCoord=133;refseq.end=24045275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_001836;refseq.name2=CMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S133S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=54;refseq.start=24045275;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr14 24046414 . T C 240.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=98.75;MQ0=0;OQ=2329.27;QD=15.13;RankSumP=0.253646;SB=-855.23;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.197A>G;refseq.codonCoord=66;refseq.end=24046414;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_001836;refseq.name2=CMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H66R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-13;refseq.start=24046414;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr14 24146676 rs41469548 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1079;Dels=0.00;HRun=0;HaplotypeScore=74.65;MQ=59.49;MQ0=476;OQ=1267.38;QD=1.17;SB=71.23;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=24146676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_033423;refseq.name2=GZMH;refseq.positionType=CDS;refseq.proteinCoordStr=p.N107N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-19;refseq.start=24146676;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:910,166:514:-284.79,-154.77,-1767.21:99 chr14 24170122 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=599;Dels=0.00;HRun=1;HaplotypeScore=19.95;MQ=98.66;MQ0=0;OQ=10601.32;QD=17.70;RankSumP=0.114711;SB=-3909.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.739T>C;refseq.codonCoord=247;refseq.end=24170122;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=805;refseq.name=NM_004131;refseq.name2=GZMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y247H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-119;refseq.start=24170122;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr14 24171388 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.370428;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=24171388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_004131;refseq.name2=GZMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N107N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-19;refseq.start=24171388;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr14 24171429 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=51.57;MQ0=172;OQ=792.22;QD=2.37;RankSumP=0.505248;SB=-214.20;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.280C>G;refseq.codonCoord=94;refseq.end=24171429;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=346;refseq.name=NM_004131;refseq.name2=GZMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P94A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-60;refseq.start=24171429;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr14 24171469 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=3.89;MQ=60.43;MQ0=43;OQ=1322.02;QD=6.01;RankSumP=0.484424;SB=-114.06;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.240A>G;refseq.codonCoord=80;refseq.end=24171469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_004131;refseq.name2=GZMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.K80K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=37;refseq.start=24171469;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr14 24172000 . C T 270.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=3.89;MQ=98.99;MQ0=0;OQ=5384.47;QD=17.20;RankSumP=0.419150;SB=-1588.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.164G>A;refseq.codonCoord=55;refseq.end=24172000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_004131;refseq.name2=GZMB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-40;refseq.start=24172000;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr14 29136680 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=7.66;MQ=98.93;MQ0=0;OQ=2073.86;QD=15.36;RankSumP=0.382687;SB=-175.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2202T>C;refseq.codonCoord=734;refseq.end=29136680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2383;refseq.name=NM_002742;refseq.name2=PRKD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I734I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=36;refseq.start=29136680;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr14 30161341 . C A 24.44 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=99.00;MQ0=0;QD=2.44;RankSumP=0.333333;SB=-35.90;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.46C>A;refseq.codingCoordStr_2=c.-85C>A;refseq.codonCoord_1=16;refseq.end_1=30161341;refseq.end_2=30161341;refseq.frame_1=0;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=70;refseq.mrnaCoord_2=70;refseq.name2_1=SCFD1;refseq.name2_2=SCFD1;refseq.name_1=NM_016106;refseq.name_2=NM_182835;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.R16R;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=CGG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=30161341;refseq.start_2=30161341;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantCodon_1=AGG;set=FilteredInAll GT 1/0 chr14 30424776 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.984C>T;refseq.codingCoordStr_2=c.984C>T;refseq.codonCoord_1=328;refseq.codonCoord_2=328;refseq.end_1=30424776;refseq.end_2=30424776;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1388;refseq.mrnaCoord_2=1064;refseq.name2_1=COCH;refseq.name2_2=COCH;refseq.name_1=NM_001135058;refseq.name_2=NM_004086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F328F;refseq.proteinCoordStr_2=p.F328F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=30424776;refseq.start_2=30424776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr14 30424847 . C G 199.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.81;MQ0=0;OQ=16682.59;QD=46.21;RankSumP=1.00000;SB=-6017.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1055C>G;refseq.codingCoordStr_2=c.1055C>G;refseq.codonCoord_1=352;refseq.codonCoord_2=352;refseq.end_1=30424847;refseq.end_2=30424847;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1459;refseq.mrnaCoord_2=1135;refseq.name2_1=COCH;refseq.name2_2=COCH;refseq.name_1=NM_001135058;refseq.name_2=NM_004086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T352S;refseq.proteinCoordStr_2=p.T352S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.start_1=30424847;refseq.start_2=30424847;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr14 30428636 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1541C>T;refseq.codingCoordStr_2=c.1541C>T;refseq.codonCoord_1=514;refseq.codonCoord_2=514;refseq.end_1=30428636;refseq.end_2=30428636;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1945;refseq.mrnaCoord_2=1621;refseq.name2_1=COCH;refseq.name2_2=COCH;refseq.name_1=NM_001135058;refseq.name_2=NM_004086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S514F;refseq.proteinCoordStr_2=p.S514F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=30428636;refseq.start_2=30428636;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr14 30451102 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=619;Dels=0.00;HRun=0;HaplotypeScore=18.35;MQ=98.73;MQ0=0;OQ=20824.08;QD=33.64;RankSumP=1.00000;SB=-7581.96;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1412A>G;refseq.codingCoordStr_2=c.1160A>G;refseq.codonCoord_1=471;refseq.codonCoord_2=387;refseq.end_1=30451102;refseq.end_2=30451102;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1628;refseq.mrnaCoord_2=1376;refseq.name2_1=STRN3;refseq.name2_2=STRN3;refseq.name_1=NM_001083893;refseq.name_2=NM_014574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N471S;refseq.proteinCoordStr_2=p.N387S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=30451102;refseq.start_2=30451102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr14 30564977 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.100000;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_3=c.166G>C;refseq.codingCoordStr_4=c.166G>C;refseq.codonCoord_3=56;refseq.codonCoord_4=56;refseq.end_1=30605072;refseq.end_2=30605072;refseq.end_3=30564977;refseq.end_4=30564977;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=382;refseq.mrnaCoord_4=382;refseq.name2_1=AP4S1;refseq.name2_2=AP4S1;refseq.name2_3=STRN3;refseq.name2_4=STRN3;refseq.name_1=NM_001128126;refseq.name_2=NM_007077;refseq.name_3=NM_001083893;refseq.name_4=NM_014574;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E56Q;refseq.proteinCoordStr_4=p.E56Q;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_3=-117;refseq.spliceDist_4=-117;refseq.start_1=30564755;refseq.start_2=30564755;refseq.start_3=30564977;refseq.start_4=30564977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=FilteredInAll GT 1/0 chr14 30648513 . C T 205.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=1.07;MQ=98.89;MQ0=0;OQ=3199.57;QD=18.60;RankSumP=0.221370;SB=-1093.09;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.6321G>A;refseq.codonCoord=2107;refseq.end=30648513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6810;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2107E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=43;refseq.start=30648513;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 30652131 . A G 249.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.22;MQ0=0;OQ=1878.48;QD=39.13;RankSumP=1.00000;SB=-361.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.6080T>C;refseq.codonCoord=2027;refseq.end=30652131;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6569;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2027P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=16;refseq.start=30652131;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr14 30652277 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=98.70;MQ0=0;OQ=6683.98;QD=27.39;RankSumP=0.425787;SB=-2794.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.6021A>G;refseq.codonCoord=2007;refseq.end=30652277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6510;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2007L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-44;refseq.start=30652277;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr14 30667999 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=579;Dels=0.00;HRun=1;HaplotypeScore=16.91;MQ=98.76;MQ0=0;OQ=11721.75;QD=20.24;RankSumP=0.369890;SB=-4369.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.4329T>C;refseq.codonCoord=1443;refseq.end=30667999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4818;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1443S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=407;refseq.start=30667999;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr14 30668178 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.29;MQ0=0;OQ=939.43;QD=14.68;RankSumP=0.588544;SB=-401.32;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4150A>G;refseq.codonCoord=1384;refseq.end=30668178;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4639;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1384G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=228;refseq.start=30668178;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr14 30689031 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2080T>G;refseq.codonCoord=694;refseq.end=30689031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2569;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F694V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-76;refseq.start=30689031;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr14 30689143 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1088;Dels=0.00;HRun=0;HaplotypeScore=10.91;MQ=98.83;MQ0=0;OQ=22367.75;QD=20.56;RankSumP=0.0684526;SB=-7305.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1968A>G;refseq.codonCoord=656;refseq.end=30689143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2457;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q656Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=36;refseq.start=30689143;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr14 30716992 . G A 346.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=372;Dels=0.00;HRun=0;HaplotypeScore=10.23;MQ=98.91;MQ0=0;OQ=7312.60;QD=19.66;RankSumP=0.217508;SB=-1673.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.360C>T;refseq.codonCoord=120;refseq.end=30716992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_015382;refseq.name2=HECTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A120A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-16;refseq.start=30716992;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr14 32084765 . G A 211.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.64;MQ0=0;OQ=3134.37;QD=18.12;RankSumP=0.167760;SB=-1327.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1155G>A;refseq.codonCoord=385;refseq.end=32084765;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_004274;refseq.name2=AKAP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T385T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=579;refseq.start=32084765;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr14 32116139 . A G 117.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=19.79;MQ=98.86;MQ0=0;OQ=8799.24;QD=22.45;RankSumP=0.240537;SB=-2183.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2409A>G;refseq.codonCoord=803;refseq.end=32116139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2579;refseq.name=NM_004274;refseq.name2=AKAP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E803E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-61;refseq.start=32116139;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr14 32362809 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.6039A>G;refseq.codonCoord=2013;refseq.end=32362809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6209;refseq.name=NM_004274;refseq.name2=AKAP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2013G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-964;refseq.start=32362809;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 34132063 . C T 188.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.82;MQ0=0;OQ=3081.25;QD=14.01;RankSumP=0.154730;SB=-1317.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.309G>A;refseq.codingCoordStr_2=c.693G>A;refseq.codonCoord_1=103;refseq.codonCoord_2=231;refseq.end_1=34132063;refseq.end_2=34132063;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=806;refseq.mrnaCoord_2=701;refseq.name2_1=SNX6;refseq.name2_2=SNX6;refseq.name_1=NM_021249;refseq.name_2=NM_152233;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E103E;refseq.proteinCoordStr_2=p.E231E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=34132063;refseq.start_2=34132063;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr14 34312579 . G A 253.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=4187.66;QD=16.95;RankSumP=0.00162082;SB=-1647.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3102C>T;refseq.codingCoordStr_2=c.3006C>T;refseq.codonCoord_1=1034;refseq.codonCoord_2=1002;refseq.end_1=34312579;refseq.end_2=34312579;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3670;refseq.mrnaCoord_2=3574;refseq.name2_1=BAZ1A;refseq.name2_2=BAZ1A;refseq.name_1=NM_013448;refseq.name_2=NM_182648;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1034D;refseq.proteinCoordStr_2=p.D1002D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=34312579;refseq.start_2=34312579;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=filterInsoap-gatk GT 1/0 chr14 34315146 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2563G>T;refseq.codingCoordStr_2=c.2467G>T;refseq.codonCoord_1=855;refseq.codonCoord_2=823;refseq.end_1=34315146;refseq.end_2=34315146;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3131;refseq.mrnaCoord_2=3035;refseq.name2_1=BAZ1A;refseq.name2_2=BAZ1A;refseq.name_1=NM_013448;refseq.name_2=NM_182648;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V855L;refseq.proteinCoordStr_2=p.V823L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-271;refseq.spliceDist_2=-271;refseq.start_1=34315146;refseq.start_2=34315146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT 1/0 chr14 34333734 . T C 179.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=3186.28;QD=19.19;RankSumP=0.360575;SB=-959.52;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1335A>G;refseq.codingCoordStr_2=c.1335A>G;refseq.codonCoord_1=445;refseq.codonCoord_2=445;refseq.end_1=34333734;refseq.end_2=34333734;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1903;refseq.mrnaCoord_2=1903;refseq.name2_1=BAZ1A;refseq.name2_2=BAZ1A;refseq.name_1=NM_013448;refseq.name_2=NM_182648;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q445Q;refseq.proteinCoordStr_2=p.Q445Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=34333734;refseq.start_2=34333734;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr14 34616124 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=763;Dels=0.00;HRun=3;HaplotypeScore=11.75;MQ=98.94;MQ0=0;OQ=13284.50;QD=17.41;RankSumP=0.402467;SB=-4293.15;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.288T>C;refseq.codingCoordStr_2=c.357T>C;refseq.codonCoord_1=96;refseq.codonCoord_2=119;refseq.end_1=34616124;refseq.end_2=34616124;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=417;refseq.name2_1=FAM177A1;refseq.name2_2=FAM177A1;refseq.name_1=NM_001079519;refseq.name_2=NM_173607;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G96G;refseq.proteinCoordStr_2=p.G119G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=34616124;refseq.start_2=34616124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr14 34940968 . G A 102.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1252.22;QD=16.48;RankSumP=0.0202484;SB=-353.82;SecondBestBaseQ=30;refseq.chr=chr14;refseq.codingCoordStr=c.*2C>T;refseq.end=34940968;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1066;refseq.name=NM_020529;refseq.name2=NFKBIA;refseq.positionType=utr3;refseq.spliceDist=50;refseq.start=34940968;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr14 34942677 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=121;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=98.59;MQ0=0;OQ=2028.27;QD=16.76;RankSumP=0.375045;SB=-843.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=34942677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_020529;refseq.name2=NFKBIA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A102A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-31;refseq.start=34942677;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr14 34943521 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=10;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=15.05;MQ=94.43;MQ0=0;OQ=242.96;QD=4.67;RankSumP=0.689312;SB=-10.00;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=34943521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_020529;refseq.name2=NFKBIA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D27D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-147;refseq.start=34943521;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr14 35073826 . A G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.21;MQ0=0;OQ=341.82;QD=28.48;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.617A>G;refseq.codonCoord=206;refseq.end=35073826;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=828;refseq.name=NM_032594;refseq.name2=INSM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D206G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=828;refseq.start=35073826;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr14 35166230 . T C 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0382317;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.5156A>G;refseq.codingCoordStr_2=c.5156A>G;refseq.codonCoord_1=1719;refseq.codonCoord_2=1719;refseq.end_1=35166230;refseq.end_2=35166230;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5547;refseq.mrnaCoord_2=5547;refseq.name2_1=RALGAPA1;refseq.name2_2=RALGAPA1;refseq.name_1=NM_014990;refseq.name_2=NM_194301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1719S;refseq.proteinCoordStr_2=p.N1719S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-184;refseq.spliceDist_2=-184;refseq.start_1=35166230;refseq.start_2=35166230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 1/0 chr14 35166337 . C T 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.204966;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.5049G>A;refseq.codingCoordStr_2=c.5049G>A;refseq.codonCoord_1=1683;refseq.codonCoord_2=1683;refseq.end_1=35166337;refseq.end_2=35166337;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5440;refseq.mrnaCoord_2=5440;refseq.name2_1=RALGAPA1;refseq.name2_2=RALGAPA1;refseq.name_1=NM_014990;refseq.name_2=NM_194301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1683E;refseq.proteinCoordStr_2=p.E1683E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-291;refseq.spliceDist_2=-291;refseq.start_1=35166337;refseq.start_2=35166337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=soap GT 0/1 chr14 35173548 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.4460T>C;refseq.codingCoordStr_2=c.4460T>C;refseq.codonCoord_1=1487;refseq.codonCoord_2=1487;refseq.end_1=35173548;refseq.end_2=35173548;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4851;refseq.mrnaCoord_2=4851;refseq.name2_1=RALGAPA1;refseq.name2_2=RALGAPA1;refseq.name_1=NM_014990;refseq.name_2=NM_194301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1487P;refseq.proteinCoordStr_2=p.L1487P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=35173548;refseq.start_2=35173548;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr14 35210362 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3668C>T;refseq.codingCoordStr_2=c.3668C>T;refseq.codonCoord_1=1223;refseq.codonCoord_2=1223;refseq.end_1=35210362;refseq.end_2=35210362;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4059;refseq.mrnaCoord_2=4059;refseq.name2_1=RALGAPA1;refseq.name2_2=RALGAPA1;refseq.name_1=NM_014990;refseq.name_2=NM_194301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1223F;refseq.proteinCoordStr_2=p.S1223F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=35210362;refseq.start_2=35210362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr14 35287724 . T C 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.693419;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1069A>G;refseq.codingCoordStr_2=c.1069A>G;refseq.codonCoord_1=357;refseq.codonCoord_2=357;refseq.end_1=35287724;refseq.end_2=35287724;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1460;refseq.mrnaCoord_2=1460;refseq.name2_1=RALGAPA1;refseq.name2_2=RALGAPA1;refseq.name_1=NM_014990;refseq.name_2=NM_194301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T357A;refseq.proteinCoordStr_2=p.T357A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=35287724;refseq.start_2=35287724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=soap GT 1/0 chr14 35859480 . T G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=1.11;MQ=94.81;MQ0=0;OQ=1603.34;QD=35.63;RankSumP=1.00000;SB=-706.07;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.66A>C;refseq.codingCoordStr_2=c.66A>C;refseq.codonCoord_1=22;refseq.codonCoord_2=22;refseq.end_1=35859480;refseq.end_2=35859480;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=154;refseq.mrnaCoord_2=154;refseq.name2_1=MBIP;refseq.name2_2=MBIP;refseq.name_1=NM_001144891;refseq.name_2=NM_016586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R22S;refseq.proteinCoordStr_2=p.R22S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=35859480;refseq.start_2=35859480;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr14 35859526 . A T 46.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=92.35;MQ0=0;OQ=769.29;QD=25.64;RankSumP=1.00000;SB=-209.92;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.20T>A;refseq.codingCoordStr_2=c.20T>A;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=35859526;refseq.end_2=35859526;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=108;refseq.mrnaCoord_2=108;refseq.name2_1=MBIP;refseq.name2_2=MBIP;refseq.name_1=NM_001144891;refseq.name_2=NM_016586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L7H;refseq.proteinCoordStr_2=p.L7H;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.start_1=35859526;refseq.start_2=35859526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr14 35859546 . G A 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=96.44;MQ0=0;OQ=407.38;QD=15.67;RankSumP=1.00000;SB=-46.56;SecondBestBaseQ=0;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.-1C>T;refseq.codingCoordStr_2=c.-1C>T;refseq.end_1=35859546;refseq.end_2=35859546;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=88;refseq.mrnaCoord_2=88;refseq.name2_1=MBIP;refseq.name2_2=MBIP;refseq.name_1=NM_001144891;refseq.name_2=NM_016586;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=35859546;refseq.start_2=35859546;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr14 36205504 . G C 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=134.32;QD=13.43;RankSumP=0.380952;SB=-47.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.718G>C;refseq.codonCoord=240;refseq.end=36205504;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_006194;refseq.name2=PAX9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A240P;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-54;refseq.start=36205504;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr14 37131493 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=11.79;MQ=98.06;MQ0=0;OQ=1740.61;QD=14.27;RankSumP=0.0384708;SB=-152.57;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.247G>A;refseq.codonCoord=83;refseq.end=37131493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_004496;refseq.name2=FOXA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A83T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=175;refseq.start=37131493;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr14 37347750 . C T 302.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=10.34;MQ=98.66;MQ0=0;OQ=7923.20;QD=17.26;RankSumP=0.394605;SB=-2914.45;SecondBestBaseQ=33;set=Intersection GT 0/1 chr14 37749007 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.662T>G;refseq.codonCoord=221;refseq.end=37749007;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1279;refseq.name=NM_001049;refseq.name2=SSTR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V221G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1006;refseq.start=37749007;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 37749224 . C T 217.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.73;MQ0=0;OQ=5241.18;QD=19.06;RankSumP=0.380207;SB=-2214.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.879C>T;refseq.codonCoord=293;refseq.end=37749224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_001049;refseq.name2=SSTR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V293V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=1223;refseq.start=37749224;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr14 38587676 . T C 176.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.53;MQ0=0;OQ=1012.20;QD=16.33;RankSumP=0.726888;SB=-291.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1668A>G;refseq.codonCoord=556;refseq.end=38587676;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1891;refseq.name=NM_006364;refseq.name2=SEC23A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K556K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=38587676;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr14 38625936 . G C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=98.96;MQ0=0;OQ=11787.80;QD=49.32;RankSumP=1.00000;SB=-4289.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.631C>G;refseq.codonCoord=211;refseq.end=38625936;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_006364;refseq.name2=SEC23A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=28;refseq.start=38625936;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr14 38661459 . A C 37 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.45486e-06;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.480A>C;refseq.codingCoordStr_2=c.480A>C;refseq.codingCoordStr_3=c.480A>C;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.codonCoord_3=160;refseq.end_1=38661459;refseq.end_2=38661459;refseq.end_3=38661459;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=502;refseq.mrnaCoord_2=502;refseq.mrnaCoord_3=502;refseq.name2_1=SIP1;refseq.name2_2=SIP1;refseq.name2_3=SIP1;refseq.name_1=NM_001009182;refseq.name_2=NM_001009183;refseq.name_3=NM_003616;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G160G;refseq.proteinCoordStr_2=p.G160G;refseq.proteinCoordStr_3=p.G160G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=38661459;refseq.start_2=38661459;refseq.start_3=38661459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr14 38670941 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=258;Dels=0.00;HRun=2;HaplotypeScore=37.47;MQ=94.97;MQ0=0;OQ=90.32;QD=0.35;RankSumP=0.00000;SB=194.67;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.617G>T;refseq.codingCoordStr_2=c.662G>T;refseq.codingCoordStr_3=c.662G>T;refseq.codonCoord_1=206;refseq.codonCoord_2=221;refseq.codonCoord_3=221;refseq.end_1=38670941;refseq.end_2=38670941;refseq.end_3=38670941;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=684;refseq.mrnaCoord_3=684;refseq.name2_1=SIP1;refseq.name2_2=SIP1;refseq.name2_3=SIP1;refseq.name_1=NM_001009182;refseq.name_2=NM_001009183;refseq.name_3=NM_003616;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C206F;refseq.proteinCoordStr_2=p.C221F;refseq.proteinCoordStr_3=p.C221F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=38670941;refseq.start_2=38670941;refseq.start_3=38670941;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr14 38670943 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.619C>T;refseq.codingCoordStr_2=c.664C>T;refseq.codingCoordStr_3=c.664C>T;refseq.codonCoord_1=207;refseq.codonCoord_2=222;refseq.codonCoord_3=222;refseq.end_1=38670943;refseq.end_2=38670943;refseq.end_3=38670943;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=641;refseq.mrnaCoord_2=686;refseq.mrnaCoord_3=686;refseq.name2_1=SIP1;refseq.name2_2=SIP1;refseq.name2_3=SIP1;refseq.name_1=NM_001009182;refseq.name_2=NM_001009183;refseq.name_3=NM_003616;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L207F;refseq.proteinCoordStr_2=p.L222F;refseq.proteinCoordStr_3=p.L222F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.start_1=38670943;refseq.start_2=38670943;refseq.start_3=38670943;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr14 38719985 . A T 436.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=5785.10;QD=40.46;RankSumP=1.00000;SB=-2056.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1321A>T;refseq.codonCoord=441;refseq.end=38719985;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1418;refseq.name=NM_002687;refseq.name2=PNN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T441S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=528;refseq.start=38719985;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr14 38773075 . A G 288.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.57;MQ0=0;OQ=2191.60;QD=16.99;RankSumP=0.259906;SB=-725.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.6A>G;refseq.codonCoord=2;refseq.end=38773075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_054024;refseq.name2=MIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-110;refseq.start=38773075;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 38806431 . T C 429.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.60;MQ0=0;OQ=3689.04;QD=36.53;RankSumP=1.00000;SB=-1726.68;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_3=c.17T>C;refseq.codingCoordStr_4=c.17T>C;refseq.codonCoord_3=6;refseq.codonCoord_4=6;refseq.end_1=38815878;refseq.end_2=38815878;refseq.end_3=38806431;refseq.end_4=38806431;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=353;refseq.mrnaCoord_4=353;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_203354;refseq.name_2=NM_203356;refseq.name_3=NM_005930;refseq.name_4=NM_203355;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V6A;refseq.proteinCoordStr_4=p.V6A;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.start_1=38804387;refseq.start_2=38805493;refseq.start_3=38806431;refseq.start_4=38806431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr14 38815912 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.87T>G;refseq.codingCoordStr_2=c.51T>G;refseq.codingCoordStr_3=c.87T>G;refseq.codingCoordStr_4=c.-1T>G;refseq.codonCoord_1=29;refseq.codonCoord_2=17;refseq.codonCoord_3=29;refseq.end_1=38815912;refseq.end_2=38815912;refseq.end_3=38815912;refseq.end_4=38815912;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=423;refseq.mrnaCoord_2=174;refseq.mrnaCoord_3=423;refseq.mrnaCoord_4=254;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_005930;refseq.name_2=NM_203354;refseq.name_3=NM_203355;refseq.name_4=NM_203356;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=utr5;refseq.proteinCoordStr_1=p.G29G;refseq.proteinCoordStr_2=p.G17G;refseq.proteinCoordStr_3=p.G29G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=38815912;refseq.start_2=38815912;refseq.start_3=38815912;refseq.start_4=38815912;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr14 38833927 . G C 169.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=97.63;MQ0=0;OQ=1432.17;QD=19.62;RankSumP=0.447973;SB=-694.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.615G>C;refseq.codingCoordStr_2=c.579G>C;refseq.codingCoordStr_3=c.615G>C;refseq.codingCoordStr_4=c.528G>C;refseq.codonCoord_1=205;refseq.codonCoord_2=193;refseq.codonCoord_3=205;refseq.codonCoord_4=176;refseq.end_1=38833927;refseq.end_2=38833927;refseq.end_3=38833927;refseq.end_4=38833927;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=951;refseq.mrnaCoord_2=702;refseq.mrnaCoord_3=951;refseq.mrnaCoord_4=782;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_005930;refseq.name_2=NM_203354;refseq.name_3=NM_203355;refseq.name_4=NM_203356;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K205N;refseq.proteinCoordStr_2=p.K193N;refseq.proteinCoordStr_3=p.K205N;refseq.proteinCoordStr_4=p.K176N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.spliceDist_4=48;refseq.start_1=38833927;refseq.start_2=38833927;refseq.start_3=38833927;refseq.start_4=38833927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 0/1 chr14 38847427 . G C 208.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.91;MQ0=0;OQ=1253.12;QD=19.28;RankSumP=0.457823;SB=-473.04;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1078G>C;refseq.codingCoordStr_2=c.1042G>C;refseq.codingCoordStr_3=c.1078G>C;refseq.codingCoordStr_4=c.991G>C;refseq.codonCoord_1=360;refseq.codonCoord_2=348;refseq.codonCoord_3=360;refseq.codonCoord_4=331;refseq.end_1=38847427;refseq.end_2=38847427;refseq.end_3=38847427;refseq.end_4=38847427;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1414;refseq.mrnaCoord_2=1165;refseq.mrnaCoord_3=1414;refseq.mrnaCoord_4=1245;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_005930;refseq.name_2=NM_203354;refseq.name_3=NM_203355;refseq.name_4=NM_203356;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E360Q;refseq.proteinCoordStr_2=p.E348Q;refseq.proteinCoordStr_3=p.E360Q;refseq.proteinCoordStr_4=p.E331Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=38847427;refseq.start_2=38847427;refseq.start_3=38847427;refseq.start_4=38847427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 0/1 chr14 38887779 . A G 325.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=95.43;MQ0=0;OQ=3987.86;QD=18.13;RankSumP=0.327053;SB=-1349.72;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.2095A>G;refseq.codingCoordStr_2=c.2059A>G;refseq.codingCoordStr_3=c.1966A>G;refseq.codingCoordStr_4=c.2008A>G;refseq.codonCoord_1=699;refseq.codonCoord_2=687;refseq.codonCoord_3=656;refseq.codonCoord_4=670;refseq.end_1=38887779;refseq.end_2=38887779;refseq.end_3=38887779;refseq.end_4=38887779;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2431;refseq.mrnaCoord_2=2182;refseq.mrnaCoord_3=2302;refseq.mrnaCoord_4=2262;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_005930;refseq.name_2=NM_203354;refseq.name_3=NM_203355;refseq.name_4=NM_203356;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I699V;refseq.proteinCoordStr_2=p.I687V;refseq.proteinCoordStr_3=p.I656V;refseq.proteinCoordStr_4=p.I670V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.spliceDist_4=82;refseq.start_1=38887779;refseq.start_2=38887779;refseq.start_3=38887779;refseq.start_4=38887779;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 0/1 chr14 38887896 . G A 117.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.34;MQ=93.14;MQ0=0;OQ=1751.97;QD=18.84;RankSumP=0.461109;SB=-540.09;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.2212G>A;refseq.codingCoordStr_2=c.2176G>A;refseq.codingCoordStr_3=c.2083G>A;refseq.codingCoordStr_4=c.2125G>A;refseq.codonCoord_1=738;refseq.codonCoord_2=726;refseq.codonCoord_3=695;refseq.codonCoord_4=709;refseq.end_1=38887896;refseq.end_2=38887896;refseq.end_3=38887896;refseq.end_4=38887896;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2548;refseq.mrnaCoord_2=2299;refseq.mrnaCoord_3=2419;refseq.mrnaCoord_4=2379;refseq.name2_1=CTAGE5;refseq.name2_2=CTAGE5;refseq.name2_3=CTAGE5;refseq.name2_4=CTAGE5;refseq.name_1=NM_005930;refseq.name_2=NM_203354;refseq.name_3=NM_203355;refseq.name_4=NM_203356;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G738R;refseq.proteinCoordStr_2=p.G726R;refseq.proteinCoordStr_3=p.G695R;refseq.proteinCoordStr_4=p.G709R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.start_1=38887896;refseq.start_2=38887896;refseq.start_3=38887896;refseq.start_4=38887896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 1/0 chr14 38970715 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.403T>G;refseq.codonCoord=135;refseq.end=38970715;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_203301;refseq.name2=FBXO33;refseq.positionType=CDS;refseq.proteinCoordStr=p.F135V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-197;refseq.start=38970715;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr14 41430383 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1062;Dels=0.00;HRun=1;HaplotypeScore=16.58;MQ=98.88;MQ0=0;OQ=20487.05;QD=19.29;RankSumP=0.0146480;SB=-7404.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1566T>C;refseq.codonCoord=522;refseq.end=41430383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2764;refseq.name=NM_152447;refseq.name2=LRFN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S522S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=181;refseq.start=41430383;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr14 44043939 . C A 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=58.28;MQ0=29;OQ=378.98;QD=5.57;RankSumP=0.380913;SB=-119.46;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2002G>T;refseq.codonCoord=668;refseq.end=44043939;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2311;refseq.name=NM_032135;refseq.name2=FSCB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A668S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-838;refseq.start=44043939;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr14 44044672 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.36;MQ0=0;OQ=790.81;QD=11.98;RankSumP=0.527021;SB=-231.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1269T>A;refseq.codonCoord=423;refseq.end=44044672;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1578;refseq.name=NM_032135;refseq.name2=FSCB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D423E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-1571;refseq.start=44044672;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 44045028 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.913G>C;refseq.codonCoord=305;refseq.end=44045028;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_032135;refseq.name2=FSCB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A305P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=1222;refseq.start=44045028;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr14 44045260 . C T 207.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=7.01;MQ=98.96;MQ0=0;OQ=5493.88;QD=22.70;RankSumP=0.194135;SB=-2199.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.681G>A;refseq.codonCoord=227;refseq.end=44045260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_032135;refseq.name2=FSCB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P227P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=990;refseq.start=44045260;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr14 44473366 . T C 234.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=4.55;MQ=98.84;MQ0=0;OQ=7391.61;QD=19.98;RankSumP=0.146219;SB=-2614.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1045A>G;refseq.codonCoord=349;refseq.end=44473366;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_017658;refseq.name2=KLHL28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I349V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=146;refseq.start=44473366;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr14 44676137 . A G 189.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.82;MQ0=0;OQ=4416.72;QD=21.65;RankSumP=0.197736;SB=-1305.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.624A>G;refseq.codonCoord=208;refseq.end=44676137;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_020937;refseq.name2=FANCM;refseq.positionType=CDS;refseq.proteinCoordStr=p.I208M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-58;refseq.start=44676137;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr14 46574027 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=681;Dels=0.00;HRun=2;HaplotypeScore=62.87;MQ=97.86;MQ0=0;OQ=148.80;QD=0.22;RankSumP=0.00000;SB=1057.76;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1549A>C;refseq.codingCoordStr_2=c.862A>C;refseq.codonCoord_1=517;refseq.codonCoord_2=288;refseq.end_1=46574027;refseq.end_2=46574027;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1745;refseq.mrnaCoord_2=1609;refseq.name2_1=MDGA2;refseq.name2_2=MDGA2;refseq.name_1=NM_001113498;refseq.name_2=NM_182830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T517P;refseq.proteinCoordStr_2=p.T288P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=46574027;refseq.start_2=46574027;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr14 49158707 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=725;Dels=0.00;HRun=0;HaplotypeScore=12.75;MQ=98.88;MQ0=0;OQ=16506.86;QD=22.77;RankSumP=0.123796;SB=-6975.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.971C>G;refseq.codonCoord=324;refseq.end=49158707;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1469;refseq.name=NM_002408;refseq.name2=MGAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T324S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1243;refseq.start=49158707;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr14 49265429 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=0;HaplotypeScore=25.24;MQ=98.56;MQ0=0;OQ=19288.76;QD=38.42;RankSumP=1.00000;SB=-9205.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=49265429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=631;refseq.name=NM_172193;refseq.name2=KLHDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T201T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=36;refseq.start=49265429;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr14 49316780 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.873A>C;refseq.codonCoord=291;refseq.end=49316780;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_014315;refseq.name2=KLHDC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K291N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-11;refseq.start=49316780;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr14 49321119 . A G 362.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=2778.51;QD=37.55;RankSumP=1.00000;SB=-710.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.3216T>C;refseq.codonCoord=1072;refseq.end=49321119;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3284;refseq.name=NM_004713;refseq.name2=SDCCAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1072N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=63;refseq.start=49321119;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 49368712 . T A 321.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=98.51;MQ0=0;OQ=9777.36;QD=39.58;RankSumP=1.00000;SB=-4109.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.769A>T;refseq.codonCoord=257;refseq.end=49368712;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=837;refseq.name=NM_004713;refseq.name2=SDCCAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S257C;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=34;refseq.start=49368712;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr14 49686628 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=927;Dels=0.00;HRun=0;HaplotypeScore=23.50;MQ=98.79;MQ0=0;OQ=19388.65;QD=20.92;RankSumP=0.109645;SB=-7263.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2232C>T;refseq.codonCoord=744;refseq.end=49686628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2330;refseq.name=NM_006939;refseq.name2=SOS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N744N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=71;refseq.start=49686628;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 49820449 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=111;Dels=0.00;HRun=2;HaplotypeScore=14.83;MQ=97.65;MQ0=0;OQ=162.47;QD=1.46;RankSumP=0.00000;SB=164.55;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.593T>G;refseq.codonCoord=198;refseq.end=49820449;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_024884;refseq.name2=L2HGDH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V198G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=53;refseq.start=49820449;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 49866631 . G C 158.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.87;MQ0=0;OQ=5596.32;QD=22.30;RankSumP=0.224071;SB=-1381.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.988C>G;refseq.codonCoord=330;refseq.end=49866631;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_004196;refseq.name2=CDKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L330V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=19;refseq.start=49866631;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr14 50127477 . G A 354.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=3.83;MQ=98.83;MQ0=0;OQ=7793.29;QD=41.02;RankSumP=1.00000;SB=-3036.06;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.351G>A;refseq.codingCoordStr_2=c.351G>A;refseq.codingCoordStr_3=c.351G>A;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.codonCoord_3=117;refseq.end_1=50127477;refseq.end_2=50127477;refseq.end_3=50127477;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=776;refseq.mrnaCoord_2=592;refseq.mrnaCoord_3=592;refseq.name2_1=ATL1;refseq.name2_2=ATL1;refseq.name2_3=ATL1;refseq.name_1=NM_001127713;refseq.name_2=NM_015915;refseq.name_3=NM_181598;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E117E;refseq.proteinCoordStr_2=p.E117E;refseq.proteinCoordStr_3=p.E117E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=50127477;refseq.start_2=50127477;refseq.start_3=50127477;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr14 50164718 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1339A>C;refseq.codingCoordStr_2=c.1339A>C;refseq.codingCoordStr_3=c.1339A>C;refseq.codonCoord_1=447;refseq.codonCoord_2=447;refseq.codonCoord_3=447;refseq.end_1=50164718;refseq.end_2=50164718;refseq.end_3=50164718;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1764;refseq.mrnaCoord_2=1580;refseq.mrnaCoord_3=1580;refseq.name2_1=ATL1;refseq.name2_2=ATL1;refseq.name2_3=ATL1;refseq.name_1=NM_001127713;refseq.name_2=NM_015915;refseq.name_3=NM_181598;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T447P;refseq.proteinCoordStr_2=p.T447P;refseq.proteinCoordStr_3=p.T447P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-213;refseq.spliceDist_2=220;refseq.spliceDist_3=-213;refseq.start_1=50164718;refseq.start_2=50164718;refseq.start_3=50164718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr14 50177326 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.842A>C;refseq.codonCoord=281;refseq.end=50177326;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1180;refseq.name=NM_021818;refseq.name2=SAV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y281S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=36;refseq.start=50177326;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr14 50262409 . G A 93.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=577;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=98.86;MQ0=0;OQ=24868.42;QD=43.10;RankSumP=1.00000;SB=-10276.35;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.4065C>T;refseq.codingCoordStr_3=c.6204C>T;refseq.codonCoord_2=1355;refseq.codonCoord_3=2068;refseq.end_1=50262410;refseq.end_2=50262409;refseq.end_3=50262409;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=4256;refseq.mrnaCoord_3=6395;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name_1=NM_020921;refseq.name_2=NM_016350;refseq.name_3=NM_182946;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P1355P;refseq.proteinCoordStr_3=p.P2068P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_2=-111;refseq.spliceDist_3=-113;refseq.start_1=50260151;refseq.start_2=50262409;refseq.start_3=50262409;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr14 50274746 . C T 328.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.92;MQ0=0;OQ=10712.50;QD=43.02;RankSumP=1.00000;SB=-3243.17;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.3498G>A;refseq.codingCoordStr_2=c.5637G>A;refseq.codingCoordStr_3=c.5637G>A;refseq.codingCoordStr_4=c.5637G>A;refseq.codonCoord_1=1166;refseq.codonCoord_2=1879;refseq.codonCoord_3=1879;refseq.codonCoord_4=1879;refseq.end_1=50274746;refseq.end_2=50274746;refseq.end_3=50274746;refseq.end_4=50274746;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3689;refseq.mrnaCoord_2=5828;refseq.mrnaCoord_3=5828;refseq.mrnaCoord_4=5828;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q1166Q;refseq.proteinCoordStr_2=p.Q1879Q;refseq.proteinCoordStr_3=p.Q1879Q;refseq.proteinCoordStr_4=p.Q1879Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=50274746;refseq.start_2=50274746;refseq.start_3=50274746;refseq.start_4=50274746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 1/1 chr14 50275895 . A T 361.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=10.02;MQ=98.87;MQ0=0;OQ=8278.94;QD=18.69;RankSumP=0.130171;SB=-2163.79;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.3370T>A;refseq.codingCoordStr_2=c.5509T>A;refseq.codingCoordStr_3=c.5509T>A;refseq.codingCoordStr_4=c.5509T>A;refseq.codonCoord_1=1124;refseq.codonCoord_2=1837;refseq.codonCoord_3=1837;refseq.codonCoord_4=1837;refseq.end_1=50275895;refseq.end_2=50275895;refseq.end_3=50275895;refseq.end_4=50275895;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3561;refseq.mrnaCoord_2=5700;refseq.mrnaCoord_3=5700;refseq.mrnaCoord_4=5700;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S1124T;refseq.proteinCoordStr_2=p.S1837T;refseq.proteinCoordStr_3=p.S1837T;refseq.proteinCoordStr_4=p.S1837T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.spliceDist_3=61;refseq.spliceDist_4=61;refseq.start_1=50275895;refseq.start_2=50275895;refseq.start_3=50275895;refseq.start_4=50275895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 0/1 chr14 50293539 . C T 285.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=99.04;MQ0=0;OQ=4043.29;QD=17.13;RankSumP=0.271008;SB=-1271.49;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_2=c.3959G>A;refseq.codingCoordStr_3=c.3959G>A;refseq.codingCoordStr_4=c.3959G>A;refseq.codonCoord_2=1320;refseq.codonCoord_3=1320;refseq.codonCoord_4=1320;refseq.end_1=50296314;refseq.end_2=50293539;refseq.end_3=50293539;refseq.end_4=50293539;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=4150;refseq.mrnaCoord_3=4150;refseq.mrnaCoord_4=4150;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G1320E;refseq.proteinCoordStr_3=p.G1320E;refseq.proteinCoordStr_4=p.G1320E;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_2=-580;refseq.spliceDist_3=-580;refseq.spliceDist_4=-580;refseq.start_1=50291346;refseq.start_2=50293539;refseq.start_3=50293539;refseq.start_4=50293539;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 0/1 chr14 50294124 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=454;Dels=0.00;HRun=1;HaplotypeScore=15.19;MQ=98.84;MQ0=0;OQ=7514.42;QD=16.55;RankSumP=0.226386;SB=-1866.61;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_2=c.3374A>C;refseq.codingCoordStr_3=c.3374A>C;refseq.codingCoordStr_4=c.3374A>C;refseq.codonCoord_2=1125;refseq.codonCoord_3=1125;refseq.codonCoord_4=1125;refseq.end_1=50296314;refseq.end_2=50294124;refseq.end_3=50294124;refseq.end_4=50294124;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=3565;refseq.mrnaCoord_3=3565;refseq.mrnaCoord_4=3565;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Q1125P;refseq.proteinCoordStr_3=p.Q1125P;refseq.proteinCoordStr_4=p.Q1125P;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_2=975;refseq.spliceDist_3=975;refseq.spliceDist_4=975;refseq.start_1=50291346;refseq.start_2=50294124;refseq.start_3=50294124;refseq.start_4=50294124;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr14 50296750 . A G 326.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.17;MQ0=0;OQ=6514.26;QD=19.68;RankSumP=0.248264;SB=-2660.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1974T>C;refseq.codingCoordStr_2=c.1974T>C;refseq.codingCoordStr_3=c.1974T>C;refseq.codingCoordStr_4=c.1974T>C;refseq.codonCoord_1=658;refseq.codonCoord_2=658;refseq.codonCoord_3=658;refseq.codonCoord_4=658;refseq.end_1=50296750;refseq.end_2=50296750;refseq.end_3=50296750;refseq.end_4=50296750;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2165;refseq.mrnaCoord_2=2165;refseq.mrnaCoord_3=2165;refseq.mrnaCoord_4=2165;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H658H;refseq.proteinCoordStr_2=p.H658H;refseq.proteinCoordStr_3=p.H658H;refseq.proteinCoordStr_4=p.H658H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.spliceDist_3=78;refseq.spliceDist_4=78;refseq.start_1=50296750;refseq.start_2=50296750;refseq.start_3=50296750;refseq.start_4=50296750;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 0/1 chr14 50307451 . A G 294.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.84;MQ0=0;OQ=5291.10;QD=19.10;RankSumP=0.420564;SB=-1929.31;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1128T>C;refseq.codingCoordStr_2=c.1128T>C;refseq.codingCoordStr_3=c.1128T>C;refseq.codingCoordStr_4=c.1128T>C;refseq.codonCoord_1=376;refseq.codonCoord_2=376;refseq.codonCoord_3=376;refseq.codonCoord_4=376;refseq.end_1=50307451;refseq.end_2=50307451;refseq.end_3=50307451;refseq.end_4=50307451;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1319;refseq.mrnaCoord_3=1319;refseq.mrnaCoord_4=1319;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V376V;refseq.proteinCoordStr_2=p.V376V;refseq.proteinCoordStr_3=p.V376V;refseq.proteinCoordStr_4=p.V376V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=50307451;refseq.start_2=50307451;refseq.start_3=50307451;refseq.start_4=50307451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 0/1 chr14 50308817 . C G 387.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.95;MQ0=0;OQ=7923.70;QD=44.02;RankSumP=1.00000;SB=-3054.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.933G>C;refseq.codingCoordStr_2=c.933G>C;refseq.codingCoordStr_3=c.933G>C;refseq.codingCoordStr_4=c.933G>C;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.codonCoord_3=311;refseq.codonCoord_4=311;refseq.end_1=50308817;refseq.end_2=50308817;refseq.end_3=50308817;refseq.end_4=50308817;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1124;refseq.mrnaCoord_2=1124;refseq.mrnaCoord_3=1124;refseq.mrnaCoord_4=1124;refseq.name2_1=NIN;refseq.name2_2=NIN;refseq.name2_3=NIN;refseq.name2_4=NIN;refseq.name_1=NM_016350;refseq.name_2=NM_020921;refseq.name_3=NM_182944;refseq.name_4=NM_182946;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L311L;refseq.proteinCoordStr_2=p.L311L;refseq.proteinCoordStr_3=p.L311L;refseq.proteinCoordStr_4=p.L311L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.start_1=50308817;refseq.start_2=50308817;refseq.start_3=50308817;refseq.start_4=50308817;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=Intersection GT 1/1 chr14 50440602 . C G 192.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=11.99;MQ=98.79;MQ0=0;OQ=6302.34;QD=22.43;RankSumP=0.333080;SB=-2533.64;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.682C>G;refseq.codingCoordStr_2=c.772C>G;refseq.codonCoord_1=228;refseq.codonCoord_2=258;refseq.end_1=50440602;refseq.end_2=50440602;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=890;refseq.mrnaCoord_2=787;refseq.name2_1=ABHD12B;refseq.name2_2=ABHD12B;refseq.name_1=NM_181533;refseq.name_2=NM_181814;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P228A;refseq.proteinCoordStr_2=p.P258A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=50440602;refseq.start_2=50440602;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr14 50515966 . T G 296.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.68;MQ0=0;OQ=1761.27;QD=19.57;RankSumP=0.263759;SB=-822.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1959A>C;refseq.codonCoord=653;refseq.end=50515966;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2724;refseq.name=NM_015163;refseq.name2=TRIM9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L653F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=52;refseq.start=50515966;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr14 50630633 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.775T>C;refseq.codingCoordStr_2=c.775T>C;refseq.codonCoord_1=259;refseq.codonCoord_2=259;refseq.end_1=50630633;refseq.end_2=50630633;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1540;refseq.mrnaCoord_2=1540;refseq.name2_1=TRIM9;refseq.name2_2=TRIM9;refseq.name_1=NM_015163;refseq.name_2=NM_052978;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S259P;refseq.proteinCoordStr_2=p.S259P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=50630633;refseq.start_2=50630633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr14 50785938 . T G 250.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=546;Dels=0.00;HRun=0;HaplotypeScore=14.46;MQ=98.14;MQ0=0;OQ=8606.70;QD=15.76;RankSumP=0.344550;SB=-1764.88;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.492T>G;refseq.codonCoord=164;refseq.end=50785938;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_030755;refseq.name2=TMX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T164T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=50785938;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr14 50786211 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=9.61699e-08;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.642A>C;refseq.codonCoord=214;refseq.end=50786211;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_030755;refseq.name2=TMX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P214P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-23;refseq.start=50786211;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 50786217 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=20.56;MQ=97.66;MQ0=0;OQ=1898.32;QD=15.82;RankSumP=0.496322;SB=-701.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.648G>A;refseq.codonCoord=216;refseq.end=50786217;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_030755;refseq.name2=TMX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P216P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-17;refseq.start=50786217;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr14 51251831 . T A 464.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=97.50;MQ0=0;OQ=5587.98;QD=39.91;RankSumP=1.00000;SB=-2186.07;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.864T>A;refseq.codingCoordStr_2=c.864T>A;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=51251831;refseq.end_2=51251831;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1149;refseq.name2_1=FRMD6;refseq.name2_2=FRMD6;refseq.name_1=NM_001042481;refseq.name_2=NM_152330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S288S;refseq.proteinCoordStr_2=p.S288S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=51251831;refseq.start_2=51251831;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr14 51256722 . A G 201.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=3.61;MQ=98.94;MQ0=0;OQ=2671.28;QD=14.76;RankSumP=0.0151763;SB=-1002.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1200A>G;refseq.codingCoordStr_2=c.1200A>G;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=51256722;refseq.end_2=51256722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1693;refseq.mrnaCoord_2=1485;refseq.name2_1=FRMD6;refseq.name2_2=FRMD6;refseq.name_1=NM_001042481;refseq.name_2=NM_152330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P400P;refseq.proteinCoordStr_2=p.P400P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-137;refseq.spliceDist_2=-137;refseq.start_1=51256722;refseq.start_2=51256722;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr14 51548065 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=563;Dels=0.00;HRun=1;HaplotypeScore=13.29;MQ=98.84;MQ0=0;OQ=8953.74;QD=15.90;RankSumP=0.435082;SB=-3078.51;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.3507T>C;refseq.codonCoord=1169;refseq.end=51548065;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3741;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1169A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-44;refseq.start=51548065;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr14 51551667 . C T 242.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.75;MQ0=0;OQ=1498.56;QD=19.98;RankSumP=0.384474;SB=-616.45;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.3105G>A;refseq.codonCoord=1035;refseq.end=51551667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3339;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1035R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=77;refseq.start=51551667;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr14 51566137 . C A 294.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.36;MQ0=0;OQ=1863.99;QD=35.85;RankSumP=1.00000;SB=-227.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2279G>T;refseq.codonCoord=760;refseq.end=51566137;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2513;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G760V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=22;refseq.start=51566137;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr14 51566157 . C T 219.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.02;MQ0=0;OQ=1409.75;QD=41.46;RankSumP=1.00000;SB=-183.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2259G>A;refseq.codonCoord=753;refseq.end=51566157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2493;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E753E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=51566157;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr14 51577179 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=630;Dels=0.00;HRun=1;HaplotypeScore=13.91;MQ=98.86;MQ0=0;OQ=10993.27;QD=17.45;RankSumP=0.0261244;SB=-4060.05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1966T>C;refseq.codonCoord=656;refseq.end=51577179;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S656P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-61;refseq.start=51577179;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr14 51579251 . T C 138.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=308;Dels=0.00;HRun=2;HaplotypeScore=6.55;MQ=98.90;MQ0=0;OQ=4966.15;QD=16.12;RankSumP=0.434861;SB=-1626.23;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1578A>G;refseq.codonCoord=526;refseq.end=51579251;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1812;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E526E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=51579251;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr14 51590118 . C T 330.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=508;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.93;MQ0=0;OQ=11068.26;QD=21.79;RankSumP=0.340051;SB=-2479.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1358G>A;refseq.codonCoord=453;refseq.end=51590118;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1592;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G453D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-72;refseq.start=51590118;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr14 51590496 . G T 253.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=98.91;MQ0=0;OQ=5559.70;QD=17.82;RankSumP=0.281670;SB=-1961.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1061C>A;refseq.codonCoord=354;refseq.end=51590496;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P354H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=51590496;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr14 51590603 . A G 446.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.79;MQ0=0;OQ=6856.62;QD=37.67;RankSumP=1.00000;SB=-2119.64;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.954T>C;refseq.codonCoord=318;refseq.end=51590603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1188;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y318Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-116;refseq.start=51590603;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr14 51605398 . G T 390.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=99.00;MQ0=0;OQ=4582.09;QD=34.71;RankSumP=1.00000;SB=-1864.46;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.65C>A;refseq.codonCoord=22;refseq.end=51605398;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_007361;refseq.name2=NID2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P22Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-164;refseq.start=51605398;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr14 51975831 . T G 188.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1667.24;QD=16.35;RankSumP=0.0132007;SB=-410.77;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2020A>C;refseq.codingCoordStr_2=c.2035A>C;refseq.codonCoord_1=674;refseq.codonCoord_2=679;refseq.end_1=51975831;refseq.end_2=51975831;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2469;refseq.mrnaCoord_2=2484;refseq.name2_1=TXNDC16;refseq.name2_2=TXNDC16;refseq.name_1=NM_001160047;refseq.name_2=NM_020784;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R674R;refseq.proteinCoordStr_2=p.R679R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=51975831;refseq.start_2=51975831;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr14 51977103 . C T 208.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=98.89;MQ0=0;OQ=1848.79;QD=18.87;RankSumP=0.445410;SB=-914.38;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1917G>A;refseq.codingCoordStr_2=c.1932G>A;refseq.codonCoord_1=639;refseq.codonCoord_2=644;refseq.end_1=51977103;refseq.end_2=51977103;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2366;refseq.mrnaCoord_2=2381;refseq.name2_1=TXNDC16;refseq.name2_2=TXNDC16;refseq.name_1=NM_001160047;refseq.name_2=NM_020784;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q639Q;refseq.proteinCoordStr_2=p.Q644Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=51977103;refseq.start_2=51977103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr14 52264059 . T G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0102806;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1186T>G;refseq.codonCoord=396;refseq.end=52264059;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1186;refseq.name=NM_002806;refseq.name2=PSMC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S396A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=93;refseq.start=52264059;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr14 52396918 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=132;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=98.93;MQ0=0;OQ=1823.81;QD=13.82;RankSumP=0.282078;SB=-632.92;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1639T>C;refseq.codingCoordStr_2=c.1639T>C;refseq.codingCoordStr_3=c.1618T>C;refseq.codonCoord_1=547;refseq.codonCoord_2=547;refseq.codonCoord_3=540;refseq.end_1=52396918;refseq.end_2=52396918;refseq.end_3=52396918;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1825;refseq.mrnaCoord_2=1825;refseq.mrnaCoord_3=1804;refseq.name2_1=FERMT2;refseq.name2_2=FERMT2;refseq.name2_3=FERMT2;refseq.name_1=NM_001134999;refseq.name_2=NM_001135000;refseq.name_3=NM_006832;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L547L;refseq.proteinCoordStr_2=p.L547L;refseq.proteinCoordStr_3=p.L540L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=52396918;refseq.start_2=52396918;refseq.start_3=52396918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr14 52415128 . G A 418.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=7995.17;QD=41.86;RankSumP=1.00000;SB=-2778.14;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.885C>T;refseq.codingCoordStr_2=c.885C>T;refseq.codingCoordStr_3=c.885C>T;refseq.codonCoord_1=295;refseq.codonCoord_2=295;refseq.codonCoord_3=295;refseq.end_1=52415128;refseq.end_2=52415128;refseq.end_3=52415128;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1071;refseq.mrnaCoord_2=1071;refseq.mrnaCoord_3=1071;refseq.name2_1=FERMT2;refseq.name2_2=FERMT2;refseq.name2_3=FERMT2;refseq.name_1=NM_001134999;refseq.name_2=NM_001135000;refseq.name_3=NM_006832;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y295Y;refseq.proteinCoordStr_2=p.Y295Y;refseq.proteinCoordStr_3=p.Y295Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=52415128;refseq.start_2=52415128;refseq.start_3=52415128;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/1 chr14 52599419 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=182;Dels=0.00;HRun=3;HaplotypeScore=2.00;MQ=98.74;MQ0=0;OQ=2987.08;QD=16.41;RankSumP=0.191874;SB=-410.59;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1779T>A;refseq.codingCoordStr_2=c.1758T>A;refseq.codingCoordStr_3=c.1758T>A;refseq.codonCoord_1=593;refseq.codonCoord_2=586;refseq.codonCoord_3=586;refseq.end_1=52599419;refseq.end_2=52599419;refseq.end_3=52599419;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2009;refseq.mrnaCoord_2=1988;refseq.mrnaCoord_3=1988;refseq.name2_1=DDHD1;refseq.name2_2=DDHD1;refseq.name2_3=DDHD1;refseq.name_1=NM_001160147;refseq.name_2=NM_001160148;refseq.name_3=NM_030637;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T593T;refseq.proteinCoordStr_2=p.T586T;refseq.proteinCoordStr_3=p.T586T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceDist_3=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.spliceInfo_3=splice-donor_-9;refseq.start_1=52599419;refseq.start_2=52599419;refseq.start_3=52599419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr14 52689213 . G A 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=94.20;MQ0=0;OQ=211.95;QD=15.14;RankSumP=0.537995;SB=-10.00;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.354C>T;refseq.codingCoordStr_2=c.354C>T;refseq.codingCoordStr_3=c.354C>T;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=52689213;refseq.end_2=52689213;refseq.end_3=52689213;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=584;refseq.mrnaCoord_3=584;refseq.name2_1=DDHD1;refseq.name2_2=DDHD1;refseq.name2_3=DDHD1;refseq.name_1=NM_001160147;refseq.name_2=NM_001160148;refseq.name_3=NM_030637;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H118H;refseq.proteinCoordStr_2=p.H118H;refseq.proteinCoordStr_3=p.H118H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-485;refseq.spliceDist_2=-485;refseq.spliceDist_3=-485;refseq.start_1=52689213;refseq.start_2=52689213;refseq.start_3=52689213;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr14 52689294 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=1.59;MQ=97.79;MQ0=0;OQ=1018.53;QD=14.35;RankSumP=0.298239;SB=-217.18;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.273C>T;refseq.codingCoordStr_2=c.273C>T;refseq.codingCoordStr_3=c.273C>T;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.codonCoord_3=91;refseq.end_1=52689294;refseq.end_2=52689294;refseq.end_3=52689294;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=503;refseq.mrnaCoord_2=503;refseq.mrnaCoord_3=503;refseq.name2_1=DDHD1;refseq.name2_2=DDHD1;refseq.name2_3=DDHD1;refseq.name_1=NM_001160147;refseq.name_2=NM_001160148;refseq.name_3=NM_030637;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F91F;refseq.proteinCoordStr_2=p.F91F;refseq.proteinCoordStr_3=p.F91F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=503;refseq.spliceDist_2=503;refseq.spliceDist_3=503;refseq.start_1=52689294;refseq.start_2=52689294;refseq.start_3=52689294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/0 chr14 54527738 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=234;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.79;MQ0=0;OQ=5891.42;QD=25.18;RankSumP=0.199613;SB=-2093.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.915C>G;refseq.codingCoordStr_2=c.1284C>G;refseq.codonCoord_1=305;refseq.codonCoord_2=428;refseq.end_1=54527738;refseq.end_2=54527738;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1269;refseq.mrnaCoord_2=1362;refseq.name2_1=WDHD1;refseq.name2_2=WDHD1;refseq.name_1=NM_001008396;refseq.name_2=NM_007086;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P305P;refseq.proteinCoordStr_2=p.P428P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=54527738;refseq.start_2=54527738;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr14 54674688 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.14;MQ0=0;OQ=521.31;QD=11.85;RankSumP=0.561904;SB=-224.88;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.191C>A;refseq.codingCoordStr_3=c.191C>A;refseq.codonCoord_2=64;refseq.codonCoord_3=64;refseq.end_1=54674688;refseq.end_2=54674688;refseq.end_3=54674688;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1235;refseq.mrnaCoord_2=279;refseq.mrnaCoord_3=279;refseq.name2_1=LGALS3;refseq.name2_2=LGALS3;refseq.name2_3=LGALS3;refseq.name_1=NR_003225;refseq.name_2=NM_001177388;refseq.name_3=NM_002306;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P64H;refseq.proteinCoordStr_3=p.P64H;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-152;refseq.spliceDist_2=-152;refseq.spliceDist_3=-152;refseq.start_1=54674688;refseq.start_2=54674688;refseq.start_3=54674688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr14 54674789 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=24.38;MQ=95.48;MQ0=0;OQ=372.14;QD=7.02;RankSumP=0.000482690;SB=-36.98;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.292A>C;refseq.codingCoordStr_3=c.292A>C;refseq.codonCoord_2=98;refseq.codonCoord_3=98;refseq.end_1=54674789;refseq.end_2=54674789;refseq.end_3=54674789;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1336;refseq.mrnaCoord_2=380;refseq.mrnaCoord_3=380;refseq.name2_1=LGALS3;refseq.name2_2=LGALS3;refseq.name2_3=LGALS3;refseq.name_1=NR_003225;refseq.name_2=NM_001177388;refseq.name_3=NM_002306;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T98P;refseq.proteinCoordStr_3=p.T98P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=54674789;refseq.start_2=54674789;refseq.start_3=54674789;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr14 54674799 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.302A>C;refseq.codingCoordStr_3=c.302A>C;refseq.codonCoord_2=101;refseq.codonCoord_3=101;refseq.end_1=54674799;refseq.end_2=54674799;refseq.end_3=54674799;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1346;refseq.mrnaCoord_2=390;refseq.mrnaCoord_3=390;refseq.name2_1=LGALS3;refseq.name2_2=LGALS3;refseq.name2_3=LGALS3;refseq.name_1=NR_003225;refseq.name_2=NM_001177388;refseq.name_3=NM_002306;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y101S;refseq.proteinCoordStr_3=p.Y101S;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=54674799;refseq.start_2=54674799;refseq.start_3=54674799;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr14 54689064 . A G 102.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.04;MQ=98.53;MQ0=0;OQ=974.16;QD=13.72;RankSumP=0.688004;SB=-465.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2118T>C;refseq.codingCoordStr_2=c.2118T>C;refseq.codonCoord_1=706;refseq.codonCoord_2=706;refseq.end_1=54689064;refseq.end_2=54689064;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2335;refseq.mrnaCoord_2=2335;refseq.name2_1=DLGAP5;refseq.name2_2=DLGAP5;refseq.name_1=NM_001146015;refseq.name_2=NM_014750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N706N;refseq.proteinCoordStr_2=p.N706N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=54689064;refseq.start_2=54689064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr14 54887461 . T C 281.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.82;MQ0=0;OQ=2423.47;QD=17.19;RankSumP=0.0650403;SB=-664.60;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.600T>C;refseq.codingCoordStr_2=c.600T>C;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=54887461;refseq.end_2=54887461;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=845;refseq.mrnaCoord_2=738;refseq.name2_1=FBXO34;refseq.name2_2=FBXO34;refseq.name_1=NM_017943;refseq.name_2=NM_152231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y200Y;refseq.proteinCoordStr_2=p.Y200Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=610;refseq.spliceDist_2=610;refseq.start_1=54887461;refseq.start_2=54887461;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr14 54888270 . T A 163.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=1;HaplotypeScore=4.76;MQ=98.86;MQ0=0;OQ=7643.26;QD=18.83;RankSumP=0.175071;SB=-2723.37;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1409T>A;refseq.codingCoordStr_2=c.1409T>A;refseq.codonCoord_1=470;refseq.codonCoord_2=470;refseq.end_1=54888270;refseq.end_2=54888270;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1654;refseq.mrnaCoord_2=1547;refseq.name2_1=FBXO34;refseq.name2_2=FBXO34;refseq.name_1=NM_017943;refseq.name_2=NM_152231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I470N;refseq.proteinCoordStr_2=p.I470N;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=1419;refseq.spliceDist_2=-1285;refseq.start_1=54888270;refseq.start_2=54888270;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr14 54888459 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.70;MQ0=0;OQ=920.88;QD=14.39;RankSumP=0.562978;SB=-404.07;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1598T>C;refseq.codingCoordStr_2=c.1598T>C;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=54888459;refseq.end_2=54888459;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1843;refseq.mrnaCoord_2=1736;refseq.name2_1=FBXO34;refseq.name2_2=FBXO34;refseq.name_1=NM_017943;refseq.name_2=NM_152231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L533P;refseq.proteinCoordStr_2=p.L533P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=1608;refseq.spliceDist_2=-1096;refseq.start_1=54888459;refseq.start_2=54888459;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr14 54933883 . A G 317.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.84;MQ0=0;OQ=2248.21;QD=19.22;RankSumP=0.321044;SB=-1047.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.244T>C;refseq.codonCoord=82;refseq.end=54933883;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=280;refseq.name=NM_014924;refseq.name2=KIAA0831;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=23;refseq.start=54933883;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr14 54973305 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.335A>C;refseq.codonCoord=112;refseq.end=54973305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_199047;refseq.name2=TBPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D112A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=185;refseq.start=54973305;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr14 54976925 . C G 107 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=4.44;MQ=95.44;MQ0=0;OQ=1117.37;QD=16.68;RankSumP=0.393476;SB=-320.18;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.92G>C;refseq.codonCoord=31;refseq.end=54976925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=92;refseq.name=NM_199047;refseq.name2=TBPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R31P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-59;refseq.start=54976925;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr14 55833106 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=304;Dels=0.00;HRun=0;HaplotypeScore=14.51;MQ=98.80;MQ0=0;OQ=7395.53;QD=24.33;RankSumP=0.246713;SB=-3053.39;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.732C>T;refseq.codonCoord=244;refseq.end=55833106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_021255;refseq.name2=PELI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S244S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=36;refseq.start=55833106;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr14 55833639 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=525.68;QD=11.95;RankSumP=0.251212;SB=5.05;SecondBestBaseQ=32;refseq.chr=chr14;refseq.codingCoordStr=c.*2G>A;refseq.end=55833639;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1551;refseq.name=NM_021255;refseq.name2=PELI2;refseq.positionType=utr3;refseq.spliceDist=569;refseq.start=55833639;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr14 56122264 . G T 242.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=8.61;MQ=98.77;MQ0=0;OQ=11079.66;QD=19.40;RankSumP=0.419150;SB=-3847.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.225G>T;refseq.codonCoord=75;refseq.end=56122264;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_017799;refseq.name2=C14orf101;refseq.positionType=CDS;refseq.proteinCoordStr=p.T75T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=33;refseq.start=56122264;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr14 56145673 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=767;Dels=0.00;HRun=0;HaplotypeScore=39.37;MQ=98.70;MQ0=0;OQ=15541.22;QD=20.26;RankSumP=0.194647;SB=-4054.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.733G>T;refseq.codonCoord=245;refseq.end=56145673;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_017799;refseq.name2=C14orf101;refseq.positionType=CDS;refseq.proteinCoordStr=p.A245S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-84;refseq.start=56145673;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr14 56169612 . G A 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=5;HaplotypeScore=1.78;MQ=98.21;MQ0=0;OQ=8868.18;QD=41.63;RankSumP=1.00000;SB=-4329.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1694G>A;refseq.codonCoord=565;refseq.end=56169612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1816;refseq.name=NM_017799;refseq.name2=C14orf101;refseq.positionType=CDS;refseq.proteinCoordStr=p.S565N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-31;refseq.start=56169612;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr14 57007877 . C T 105.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=11.48;MQ=98.48;MQ0=0;OQ=12287.68;QD=41.94;RankSumP=1.00000;SB=-4761.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.840G>A;refseq.codonCoord=280;refseq.end=57007877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=983;refseq.name=NM_018168;refseq.name2=C14orf105;refseq.positionType=CDS;refseq.proteinCoordStr=p.R280R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=185;refseq.start=57007877;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr14 57008013 . T C 315.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.04;MQ0=0;OQ=2220.20;QD=41.89;RankSumP=1.00000;SB=-299.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.704A>G;refseq.codonCoord=235;refseq.end=57008013;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_018168;refseq.name2=C14orf105;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y235C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=49;refseq.start=57008013;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr14 57018127 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.398T>G;refseq.codonCoord=133;refseq.end=57018127;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=541;refseq.name=NM_018168;refseq.name2=C14orf105;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=57018127;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr14 57018133 . T C 274.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=98.87;MQ0=0;OQ=8374.64;QD=42.95;RankSumP=1.00000;SB=-1521.61;SecondBestBaseQ=0;refseq.chr=chr14;refseq.codingCoordStr=c.394-2;refseq.end=57018133;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018168;refseq.name2=C14orf105;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=57018133;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr14 57674603 . A C 235.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2745.94;QD=16.44;RankSumP=0.112965;SB=-919.64;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1227T>G;refseq.codonCoord=409;refseq.end=57674603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1338;refseq.name=NM_001001872;refseq.name2=C14orf37;refseq.positionType=CDS;refseq.proteinCoordStr=p.V409V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-143;refseq.start=57674603;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr14 57890321 . T C 311.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=98.79;MQ0=0;OQ=3995.48;QD=18.58;RankSumP=0.267464;SB=-1172.15;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.1848T>C;refseq.codingCoordStr_2=c.1848T>C;refseq.codingCoordStr_3=c.1848T>C;refseq.codonCoord_1=616;refseq.codonCoord_2=616;refseq.codonCoord_3=616;refseq.end_1=57890321;refseq.end_2=57890321;refseq.end_3=57890321;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2102;refseq.mrnaCoord_2=2102;refseq.mrnaCoord_3=2102;refseq.name2_1=ARID4A;refseq.name2_2=ARID4A;refseq.name2_3=ARID4A;refseq.name_1=NM_002892;refseq.name_2=NM_023000;refseq.name_3=NM_023001;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N616N;refseq.proteinCoordStr_2=p.N616N;refseq.proteinCoordStr_3=p.N616N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=57890321;refseq.start_2=57890321;refseq.start_3=57890321;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr14 57908421 . A G 443.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.94;MQ0=0;OQ=5142.46;QD=37.54;RankSumP=1.00000;SB=-2131.65;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.3735A>G;refseq.codingCoordStr_2=c.3573A>G;refseq.codingCoordStr_3=c.3528A>G;refseq.codonCoord_1=1245;refseq.codonCoord_2=1191;refseq.codonCoord_3=1176;refseq.end_1=57908421;refseq.end_2=57908421;refseq.end_3=57908421;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3989;refseq.mrnaCoord_2=3827;refseq.mrnaCoord_3=3782;refseq.name2_1=ARID4A;refseq.name2_2=ARID4A;refseq.name2_3=ARID4A;refseq.name_1=NM_002892;refseq.name_2=NM_023000;refseq.name_3=NM_023001;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1245S;refseq.proteinCoordStr_2=p.S1191S;refseq.proteinCoordStr_3=p.S1176S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.start_1=57908421;refseq.start_2=57908421;refseq.start_3=57908421;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr14 57908454 . C T 397.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=4215.94;QD=40.93;RankSumP=1.00000;SB=-1005.31;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.3768C>T;refseq.codingCoordStr_2=c.3606C>T;refseq.codingCoordStr_3=c.3561C>T;refseq.codonCoord_1=1256;refseq.codonCoord_2=1202;refseq.codonCoord_3=1187;refseq.end_1=57908454;refseq.end_2=57908454;refseq.end_3=57908454;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4022;refseq.mrnaCoord_2=3860;refseq.mrnaCoord_3=3815;refseq.name2_1=ARID4A;refseq.name2_2=ARID4A;refseq.name2_3=ARID4A;refseq.name_1=NM_002892;refseq.name_2=NM_023000;refseq.name_3=NM_023001;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C1256C;refseq.proteinCoordStr_2=p.C1202C;refseq.proteinCoordStr_3=p.C1187C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.start_1=57908454;refseq.start_2=57908454;refseq.start_3=57908454;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/1 chr14 58174941 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=97.42;MQ0=0;OQ=446.50;QD=11.75;RankSumP=0.570400;SB=-105.92;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.268C>T;refseq.codingCoordStr_2=c.268C>T;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=58174941;refseq.end_2=58174941;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=432;refseq.mrnaCoord_2=432;refseq.name2_1=DACT1;refseq.name2_2=DACT1;refseq.name_1=NM_001079520;refseq.name_2=NM_016651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L90L;refseq.proteinCoordStr_2=p.L90L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-78;refseq.spliceDist_2=-78;refseq.start_1=58174941;refseq.start_2=58174941;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr14 59009480 . T C 312.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.87;MQ0=0;OQ=7481.89;QD=21.32;RankSumP=0.0976984;SB=-3060.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1021A>G;refseq.codonCoord=341;refseq.end=59009480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_144581;refseq.name2=C14orf149;refseq.positionType=CDS;refseq.proteinCoordStr=p.I341V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=82;refseq.start=59009480;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr14 59012338 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=55;Dels=0.00;HRun=2;HaplotypeScore=8.00;MQ=98.86;MQ0=0;OQ=537.63;QD=9.78;RankSumP=0.212663;SB=-175.77;SecondBestBaseQ=31;refseq.chr=chr14;refseq.codingCoordStr=c.939+2;refseq.end=59012338;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_144581;refseq.name2=C14orf149;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=59012338;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr14 59020443 . A C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=82.80;QD=7.53;RankSumP=0.396104;SB=-39.00;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.345T>G;refseq.codonCoord=115;refseq.end=59020443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_144581;refseq.name2=C14orf149;refseq.positionType=CDS;refseq.proteinCoordStr=p.A115A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-164;refseq.start=59020443;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 59133225 . A G 389.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=7074.55;QD=38.66;RankSumP=1.00000;SB=-3492.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.2322T>C;refseq.codingCoordStr_2=c.618T>C;refseq.codingCoordStr_3=c.1062T>C;refseq.codonCoord_1=774;refseq.codonCoord_2=206;refseq.codonCoord_3=354;refseq.end_1=59133225;refseq.end_2=59133225;refseq.end_3=59133225;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2531;refseq.mrnaCoord_2=914;refseq.mrnaCoord_3=1352;refseq.name2_1=RTN1;refseq.name2_2=RTN1;refseq.name2_3=RTN1;refseq.name_1=NM_021136;refseq.name_2=NM_206852;refseq.name_3=NM_206857;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H774H;refseq.proteinCoordStr_2=p.H206H;refseq.proteinCoordStr_3=p.H354H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=59133225;refseq.start_2=59133225;refseq.start_3=59133225;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr14 59282942 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=384;Dels=0.00;HRun=2;HaplotypeScore=61.64;MQ=98.43;MQ0=0;OQ=231.16;QD=0.60;RankSumP=0.00000;SB=435.44;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.252T>G;refseq.codonCoord=84;refseq.end=59282942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=461;refseq.name=NM_021136;refseq.name2=RTN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G84G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=11;refseq.start=59282942;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 59993536 . C T 289.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=98.55;MQ0=0;OQ=4074.50;QD=43.35;RankSumP=1.00000;SB=-1906.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1210G>A;refseq.codonCoord=404;refseq.end=59993536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_174978;refseq.name2=C14orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.V404I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=31;refseq.start=59993536;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr14 60045890 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.69;MQ0=0;OQ=1502.71;QD=13.66;RankSumP=0.295052;SB=-715.14;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.21G>A;refseq.codonCoord=7;refseq.end=60045890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_007374;refseq.name2=SIX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L7L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=200;refseq.start=60045890;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr14 60046290 . C A 213.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.32;MQ0=0;OQ=4329.00;QD=38.65;RankSumP=1.00000;SB=-1806.19;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.421C>A;refseq.codonCoord=141;refseq.end=60046290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=600;refseq.name=NM_007374;refseq.name2=SIX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H141N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-152;refseq.start=60046290;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 60250410 . T G 233.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=98.88;MQ0=0;OQ=2493.55;QD=15.58;RankSumP=0.0607847;SB=-1172.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1814A>C;refseq.codonCoord=605;refseq.end=60250410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1814;refseq.name=NM_017420;refseq.name2=SIX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H605P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=265;refseq.start=60250410;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr14 60416240 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.743A>C;refseq.codonCoord=248;refseq.end=60416240;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_002431;refseq.name2=MNAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y248S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=56;refseq.start=60416240;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr14 60515720 . A G 292.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=12072.22;QD=42.36;RankSumP=1.00000;SB=-3936.25;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.649T>C;refseq.codonCoord=217;refseq.end=60515720;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_020810;refseq.name2=TRMT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S217P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-19;refseq.start=60515720;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr14 60519081 . T A 185.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.68;MQ0=0;OQ=14854.64;QD=39.61;RankSumP=1.00000;SB=-7068.17;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.208T>A;refseq.codingCoordStr_3=c.208T>A;refseq.codonCoord_2=70;refseq.codonCoord_3=70;refseq.end_1=60519081;refseq.end_2=60519081;refseq.end_3=60519081;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=548;refseq.mrnaCoord_2=372;refseq.mrnaCoord_3=372;refseq.name2_1=SLC38A6;refseq.name2_2=SLC38A6;refseq.name2_3=SLC38A6;refseq.name_1=NR_033344;refseq.name_2=NM_001172702;refseq.name_3=NM_153811;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L70M;refseq.proteinCoordStr_3=p.L70M;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=60519081;refseq.start_2=60519081;refseq.start_3=60519081;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr14 60579677 . T C 258.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=98.65;MQ0=0;OQ=5969.00;QD=42.64;RankSumP=1.00000;SB=-2198.21;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.684T>C;refseq.codingCoordStr_3=c.684T>C;refseq.codonCoord_2=228;refseq.codonCoord_3=228;refseq.end_1=60579677;refseq.end_2=60579677;refseq.end_3=60579677;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1024;refseq.mrnaCoord_2=848;refseq.mrnaCoord_3=848;refseq.name2_1=SLC38A6;refseq.name2_2=SLC38A6;refseq.name2_3=SLC38A6;refseq.name_1=NR_033344;refseq.name_2=NM_001172702;refseq.name_3=NM_153811;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G228G;refseq.proteinCoordStr_3=p.G228G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=60579677;refseq.start_2=60579677;refseq.start_3=60579677;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr14 60817397 . A G 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=94.81;MQ0=0;OQ=84.80;QD=8.48;RankSumP=0.294372;SB=-6.99;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.222T>C;refseq.codonCoord=74;refseq.end=60817397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_001017970;refseq.name2=TMEM30B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G74G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=887;refseq.start=60817397;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr14 61066979 . C T 415.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2948.07;QD=40.95;RankSumP=1.00000;SB=-1292.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1674C>T;refseq.codonCoord=558;refseq.end=61066979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1979;refseq.name=NM_006255;refseq.name2=PRKCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.N558N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-88;refseq.start=61066979;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr14 62244369 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=25.85;MQ=98.54;MQ0=0;OQ=15806.15;QD=40.32;RankSumP=1.00000;SB=-6130.93;SecondBestBaseQ=35;refseq.changesAA_1=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2577A>G;refseq.codingCoordStr_2=c.*544A>G;refseq.codonCoord_1=859;refseq.end_1=62244369;refseq.end_2=62244369;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2628;refseq.mrnaCoord_2=2431;refseq.name2_1=KCNH5;refseq.name2_2=KCNH5;refseq.name_1=NM_139318;refseq.name_2=NM_172375;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.R859R;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=AGA;refseq.spliceDist_1=558;refseq.spliceDist_2=558;refseq.start_1=62244369;refseq.start_2=62244369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantCodon_1=AGG;set=Intersection GT 1/1 chr14 62244713 . C T 315.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=5176.74;QD=41.41;RankSumP=1.00000;SB=-1881.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2233G>A;refseq.codingCoordStr_2=c.*200G>A;refseq.codonCoord_1=745;refseq.end_1=62244713;refseq.end_2=62244713;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2284;refseq.mrnaCoord_2=2087;refseq.name2_1=KCNH5;refseq.name2_2=KCNH5;refseq.name_1=NM_139318;refseq.name_2=NM_172375;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A745T;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCC;refseq.spliceDist_1=214;refseq.spliceDist_2=214;refseq.start_1=62244713;refseq.start_2=62244713;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantCodon_1=ACC;set=Intersection GT 1/1 chr14 63538479 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=7.80126e-09;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3713A>C;refseq.codingCoordStr_2=c.3713A>C;refseq.codonCoord_1=1238;refseq.codonCoord_2=1238;refseq.end_1=63538479;refseq.end_2=63538479;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3943;refseq.mrnaCoord_2=3943;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1238A;refseq.proteinCoordStr_2=p.D1238A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=63538479;refseq.start_2=63538479;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr14 63561448 . T C 291.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=98.85;MQ0=0;OQ=10842.46;QD=37.52;RankSumP=1.00000;SB=-3898.76;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.5906T>C;refseq.codingCoordStr_2=c.5906T>C;refseq.codonCoord_1=1969;refseq.codonCoord_2=1969;refseq.end_1=63561448;refseq.end_2=63561448;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6136;refseq.mrnaCoord_2=6136;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1969T;refseq.proteinCoordStr_2=p.M1969T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=63561448;refseq.start_2=63561448;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr14 63564031 . C T 310.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=99.00;MQ0=0;OQ=7136.84;QD=43.25;RankSumP=1.00000;SB=-3158.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.6481C>T;refseq.codingCoordStr_2=c.6481C>T;refseq.codonCoord_1=2161;refseq.codonCoord_2=2161;refseq.end_1=63564031;refseq.end_2=63564031;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6711;refseq.mrnaCoord_2=6711;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2161L;refseq.proteinCoordStr_2=p.L2161L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=63564031;refseq.start_2=63564031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr14 63566502 . C T 436.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=5691.85;QD=41.85;RankSumP=1.00000;SB=-2248.49;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.6851C>T;refseq.codingCoordStr_2=c.6851C>T;refseq.codonCoord_1=2284;refseq.codonCoord_2=2284;refseq.end_1=63566502;refseq.end_2=63566502;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7081;refseq.mrnaCoord_2=7081;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A2284V;refseq.proteinCoordStr_2=p.A2284V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=63566502;refseq.start_2=63566502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr14 63567683 . G A 305.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.47;MQ0=0;OQ=3812.86;QD=41.44;RankSumP=1.00000;SB=-1503.97;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.7076G>A;refseq.codingCoordStr_2=c.7076G>A;refseq.codonCoord_1=2359;refseq.codonCoord_2=2359;refseq.end_1=63567683;refseq.end_2=63567683;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7306;refseq.mrnaCoord_2=7306;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2359N;refseq.proteinCoordStr_2=p.S2359N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-146;refseq.spliceDist_2=-146;refseq.start_1=63567683;refseq.start_2=63567683;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr14 63567790 . G A 453.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.98;MQ0=0;OQ=6016.35;QD=40.93;RankSumP=1.00000;SB=-2479.43;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.7183G>A;refseq.codingCoordStr_2=c.7183G>A;refseq.codonCoord_1=2395;refseq.codonCoord_2=2395;refseq.end_1=63567790;refseq.end_2=63567790;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7413;refseq.mrnaCoord_2=7413;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A2395T;refseq.proteinCoordStr_2=p.A2395T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=63567790;refseq.start_2=63567790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr14 63588788 . A G 250.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=7.99;MQ=98.63;MQ0=0;OQ=11001.87;QD=39.29;RankSumP=1.00000;SB=-2693.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.8404A>G;refseq.codingCoordStr_2=c.8404A>G;refseq.codonCoord_1=2802;refseq.codonCoord_2=2802;refseq.end_1=63588788;refseq.end_2=63588788;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8634;refseq.mrnaCoord_2=8634;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2802G;refseq.proteinCoordStr_2=p.S2802G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=761;refseq.spliceDist_2=761;refseq.start_1=63588788;refseq.start_2=63588788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr14 63589208 . A G 308.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4825.08;QD=40.89;RankSumP=1.00000;SB=-1517.94;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.8824A>G;refseq.codingCoordStr_2=c.8824A>G;refseq.codonCoord_1=2942;refseq.codonCoord_2=2942;refseq.end_1=63589208;refseq.end_2=63589208;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9054;refseq.mrnaCoord_2=9054;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I2942V;refseq.proteinCoordStr_2=p.I2942V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-921;refseq.spliceDist_2=-921;refseq.start_1=63589208;refseq.start_2=63589208;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr14 63589813 . A C 51 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=1.79325e-07;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.9429A>C;refseq.codingCoordStr_2=c.9429A>C;refseq.codonCoord_1=3143;refseq.codonCoord_2=3143;refseq.end_1=63589813;refseq.end_2=63589813;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9659;refseq.mrnaCoord_2=9659;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E3143D;refseq.proteinCoordStr_2=p.E3143D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-316;refseq.spliceDist_2=-316;refseq.start_1=63589813;refseq.start_2=63589813;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr14 63592427 . G C 233.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.80;MQ0=0;OQ=7607.68;QD=47.85;RankSumP=1.00000;SB=-1734.49;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.9757G>C;refseq.codingCoordStr_2=c.9757G>C;refseq.codonCoord_1=3253;refseq.codonCoord_2=3253;refseq.end_1=63592427;refseq.end_2=63592427;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9987;refseq.mrnaCoord_2=9987;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D3253H;refseq.proteinCoordStr_2=p.D3253H;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=63592427;refseq.start_2=63592427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr14 63592596 . A G 299.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=98.79;MQ0=0;OQ=12497.00;QD=38.69;RankSumP=1.00000;SB=-5560.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.9926A>G;refseq.codingCoordStr_2=c.9926A>G;refseq.codonCoord_1=3309;refseq.codonCoord_2=3309;refseq.end_1=63592596;refseq.end_2=63592596;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=10156;refseq.mrnaCoord_2=10156;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H3309R;refseq.proteinCoordStr_2=p.H3309R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-142;refseq.spliceDist_2=-142;refseq.start_1=63592596;refseq.start_2=63592596;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr14 63746504 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=14.60;MQ=98.07;MQ0=0;OQ=2815.40;QD=14.29;RankSumP=0.262728;SB=-657.70;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.18632C>T;refseq.codingCoordStr_2=c.18632C>T;refseq.codonCoord_1=6211;refseq.codonCoord_2=6211;refseq.end_1=63746504;refseq.end_2=63746504;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=18862;refseq.mrnaCoord_2=18862;refseq.name2_1=SYNE2;refseq.name2_2=SYNE2;refseq.name_1=NM_015180;refseq.name_2=NM_182914;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T6211M;refseq.proteinCoordStr_2=p.T6211M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=63746504;refseq.start_2=63746504;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr14 63952133 . A G 194.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.92;MQ0=0;OQ=5134.49;QD=22.82;RankSumP=0.0596108;SB=-1183.92;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.401A>G;refseq.codonCoord=134;refseq.end=63952133;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_005956;refseq.name2=MTHFD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K134R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=24;refseq.start=63952133;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr14 63954460 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=246;Dels=0.00;HRun=2;HaplotypeScore=21.69;MQ=97.96;MQ0=0;OQ=364.62;QD=1.48;RankSumP=0.00000;SB=336.09;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.580A>C;refseq.codonCoord=194;refseq.end=63954460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_005956;refseq.name2=MTHFD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T194P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-36;refseq.start=63954460;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 63978598 . G A 242.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.91;MQ0=0;OQ=15090.53;QD=43.24;RankSumP=1.00000;SB=-6994.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1958G>A;refseq.codonCoord=653;refseq.end=63978598;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2345;refseq.name=NM_005956;refseq.name2=MTHFD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R653Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-39;refseq.start=63978598;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr14 64005473 . C T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=16.95;MQ=99.00;MQ0=0;OQ=7237.95;QD=41.84;RankSumP=1.00000;SB=-2955.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.608C>T;refseq.codonCoord=203;refseq.end=64005473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_004857;refseq.name2=AKAP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T203I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=871;refseq.start=64005473;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr14 64078004 . C T 304.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=97.65;MQ0=0;OQ=4067.81;QD=38.02;RankSumP=1.00000;SB=-1129.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.684C>T;refseq.codonCoord=228;refseq.end=64078004;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_021979;refseq.name2=HSPA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D228D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1066;refseq.start=64078004;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr14 64101287 . C T 322.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=98.75;MQ0=0;OQ=6327.86;QD=43.05;RankSumP=1.00000;SB=-2714.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.248C>T;refseq.codonCoord=83;refseq.end=64101287;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=344;refseq.name=NM_172365;refseq.name2=C14orf50;refseq.positionType=CDS;refseq.proteinCoordStr=p.T83I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-22;refseq.start=64101287;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr14 64278134 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1978T>G;refseq.codonCoord=660;refseq.end=64278134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2247;refseq.name=NM_015549;refseq.name2=PLEKHG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L660V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=628;refseq.start=64278134;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr14 64315709 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=98.43;MQ0=0;OQ=634.41;QD=6.75;RankSumP=0.159401;SB=-193.17;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.4482G>A;refseq.codingCoordStr_2=c.4482G>A;refseq.codonCoord_1=1494;refseq.codonCoord_2=1494;refseq.end_1=64315709;refseq.end_2=64315709;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4536;refseq.mrnaCoord_2=4536;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1494V;refseq.proteinCoordStr_2=p.V1494V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=64315709;refseq.start_2=64315709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr14 64315715 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.37;MQ0=0;OQ=602.90;QD=7.09;RankSumP=0.251250;SB=-130.73;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.4476T>C;refseq.codingCoordStr_2=c.4476T>C;refseq.codonCoord_1=1492;refseq.codonCoord_2=1492;refseq.end_1=64315715;refseq.end_2=64315715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4530;refseq.mrnaCoord_2=4530;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1492L;refseq.proteinCoordStr_2=p.L1492L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=64315715;refseq.start_2=64315715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr14 64316376 . T C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=141.00;QD=10.07;RankSumP=0.284848;SB=-71.84;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.4293A>G;refseq.codingCoordStr_2=c.4293A>G;refseq.codonCoord_1=1431;refseq.codonCoord_2=1431;refseq.end_1=64316376;refseq.end_2=64316376;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4347;refseq.mrnaCoord_2=4347;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1431R;refseq.proteinCoordStr_2=p.R1431R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=64316376;refseq.start_2=64316376;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr14 64322985 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=11.11;MQ=91.77;MQ0=0;OQ=404.61;QD=7.49;RankSumP=0.111819;SB=-102.83;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3451A>G;refseq.codingCoordStr_2=c.3451A>G;refseq.codonCoord_1=1151;refseq.codonCoord_2=1151;refseq.end_1=64322985;refseq.end_2=64322985;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3505;refseq.mrnaCoord_2=3505;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1151D;refseq.proteinCoordStr_2=p.N1151D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-111;refseq.spliceDist_2=-111;refseq.start_1=64322985;refseq.start_2=64322985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr14 64323502 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=136;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=97.90;MQ0=0;OQ=1527.64;QD=11.23;RankSumP=0.0965816;SB=-565.93;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2934G>A;refseq.codingCoordStr_2=c.2934G>A;refseq.codonCoord_1=978;refseq.codonCoord_2=978;refseq.end_1=64323502;refseq.end_2=64323502;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2988;refseq.mrnaCoord_2=2988;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E978E;refseq.proteinCoordStr_2=p.E978E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.start_1=64323502;refseq.start_2=64323502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr14 64329980 . T G 364.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=98.91;MQ0=0;OQ=5090.51;QD=18.18;RankSumP=0.322895;SB=-1830.06;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2154A>C;refseq.codingCoordStr_2=c.2154A>C;refseq.codonCoord_1=718;refseq.codonCoord_2=718;refseq.end_1=64329980;refseq.end_2=64329980;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2208;refseq.mrnaCoord_2=2208;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I718I;refseq.proteinCoordStr_2=p.I718I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=359;refseq.spliceDist_2=359;refseq.start_1=64329980;refseq.start_2=64329980;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr14 64331879 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=12.10;MQ=97.57;MQ0=0;OQ=2122.49;QD=13.78;RankSumP=0.189892;SB=-774.11;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1573G>A;refseq.codingCoordStr_2=c.1573G>A;refseq.codonCoord_1=525;refseq.codonCoord_2=525;refseq.end_1=64331879;refseq.end_2=64331879;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1627;refseq.mrnaCoord_2=1627;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E525K;refseq.proteinCoordStr_2=p.E525K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=64331879;refseq.start_2=64331879;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr14 64333053 . C T 271.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=326;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=98.62;MQ0=0;OQ=6060.57;QD=18.59;RankSumP=0.0244336;SB=-1998.35;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1316G>A;refseq.codingCoordStr_2=c.1316G>A;refseq.codonCoord_1=439;refseq.codonCoord_2=439;refseq.end_1=64333053;refseq.end_2=64333053;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1370;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S439N;refseq.proteinCoordStr_2=p.S439N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=64333053;refseq.start_2=64333053;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr14 64333100 . C T 303.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.30;MQ0=0;OQ=2673.65;QD=15.82;RankSumP=0.442430;SB=-1249.70;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1269G>A;refseq.codingCoordStr_2=c.1269G>A;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.end_1=64333100;refseq.end_2=64333100;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1323;refseq.mrnaCoord_2=1323;refseq.name2_1=SPTB;refseq.name2_2=SPTB;refseq.name_1=NM_000347;refseq.name_2=NM_001024858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L423L;refseq.proteinCoordStr_2=p.L423L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=64333100;refseq.start_2=64333100;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr14 64486818 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.523T>G;refseq.codonCoord=175;refseq.end=64486818;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=604;refseq.name=NM_198686;refseq.name2=RAB15;refseq.positionType=CDS;refseq.proteinCoordStr=p.W175G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-23;refseq.start=64486818;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 66705421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1895T>G;refseq.codingCoordStr_2=c.1994T>G;refseq.codonCoord_1=632;refseq.codonCoord_2=665;refseq.end_1=66705421;refseq.end_2=66705421;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3016;refseq.mrnaCoord_2=3115;refseq.name2_1=GPHN;refseq.name2_2=GPHN;refseq.name_1=NM_001024218;refseq.name_2=NM_020806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V632G;refseq.proteinCoordStr_2=p.V665G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=66705421;refseq.start_2=66705421;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr14 67304292 . T C 291.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=395;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.85;MQ0=0;OQ=16591.19;QD=42.00;RankSumP=1.00000;SB=-6055.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.5672A>G;refseq.codonCoord=1891;refseq.end=67304292;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5811;refseq.name=NM_015346;refseq.name2=ZFYVE26;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1891S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=19;refseq.start=67304292;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr14 67319252 . C T 341.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=98.80;MQ0=0;OQ=4753.53;QD=19.09;RankSumP=0.316915;SB=-1712.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4370G>A;refseq.codonCoord=1457;refseq.end=67319252;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4509;refseq.name=NM_015346;refseq.name2=ZFYVE26;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1457Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=67319252;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr14 67327238 . C T 155.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.65;MQ0=0;OQ=2726.58;QD=12.80;RankSumP=0.116633;SB=-1127.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2559G>A;refseq.codonCoord=853;refseq.end=67327238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2698;refseq.name=NM_015346;refseq.name2=ZFYVE26;refseq.positionType=CDS;refseq.proteinCoordStr=p.L853L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=67327238;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr14 67334620 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=3;HaplotypeScore=7.32;MQ=98.45;MQ0=0;OQ=2016.48;QD=18.17;RankSumP=0.399975;SB=-863.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2112T>C;refseq.codonCoord=704;refseq.end=67334620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2251;refseq.name=NM_015346;refseq.name2=ZFYVE26;refseq.positionType=CDS;refseq.proteinCoordStr=p.P704P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-137;refseq.start=67334620;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr14 68590446 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2710A>C;refseq.codonCoord=904;refseq.end=68590446;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2929;refseq.name=NM_003861;refseq.name2=DCAF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T904P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1636;refseq.start=68590446;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr14 68591070 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2086A>C;refseq.codonCoord=696;refseq.end=68591070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2305;refseq.name=NM_003861;refseq.name2=DCAF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T696P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1012;refseq.start=68591070;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr14 68591427 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=138;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.77;MQ0=0;OQ=2287.95;QD=16.58;RankSumP=0.288717;SB=-232.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1729C>T;refseq.codonCoord=577;refseq.end=68591427;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1948;refseq.name=NM_003861;refseq.name2=DCAF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R577C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=655;refseq.start=68591427;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr14 68774306 . G T 346.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.89;MQ0=0;OQ=2140.87;QD=35.68;RankSumP=1.00000;SB=-497.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1179G>T;refseq.codonCoord=393;refseq.end=68774306;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_018199;refseq.name2=EXD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q393H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-96;refseq.start=68774306;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr14 68857325 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.322A>C;refseq.codingCoordStr_2=c.322A>C;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.end_1=68857325;refseq.end_2=68857325;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=649;refseq.mrnaCoord_2=649;refseq.name2_1=GALNTL1;refseq.name2_2=GALNTL1;refseq.name_1=NM_001168368;refseq.name_2=NM_020692;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T108P;refseq.proteinCoordStr_2=p.T108P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=68857325;refseq.start_2=68857325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr14 68865015 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.664C>G;refseq.codingCoordStr_2=c.664C>G;refseq.codonCoord_1=222;refseq.codonCoord_2=222;refseq.end_1=68865015;refseq.end_2=68865015;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=991;refseq.mrnaCoord_2=991;refseq.name2_1=GALNTL1;refseq.name2_2=GALNTL1;refseq.name_1=NM_001168368;refseq.name_2=NM_020692;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P222A;refseq.proteinCoordStr_2=p.P222A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=68865015;refseq.start_2=68865015;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/0 chr14 69240028 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.285A>C;refseq.codonCoord=95;refseq.end=69240028;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=601;refseq.name=NM_014734;refseq.name2=KIAA0247;refseq.positionType=CDS;refseq.proteinCoordStr=p.K95N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-35;refseq.start=69240028;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr14 69241125 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.91773e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.371C>T;refseq.codonCoord=124;refseq.end=69241125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_014734;refseq.name2=KIAA0247;refseq.positionType=CDS;refseq.proteinCoordStr=p.S124F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=52;refseq.start=69241125;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr14 69304638 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.12T>G;refseq.codingCoordStr_2=c.12T>G;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.end_1=69304638;refseq.end_2=69304638;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=166;refseq.name2_1=SFRS5;refseq.name2_2=SFRS5;refseq.name_1=NM_001039465;refseq.name_2=NM_006925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C4W;refseq.proteinCoordStr_2=p.C4W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=69304638;refseq.start_2=69304638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr14 69333401 . C T 201.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.78;MQ0=0;OQ=2549.08;QD=13.78;RankSumP=0.233390;SB=-1104.64;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.225G>A;refseq.codonCoord=75;refseq.end=69333401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_003049;refseq.name2=SLC10A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T75T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-132;refseq.start=69333401;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr14 69703840 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=25.55;MQ=97.93;MQ0=0;OQ=4927.24;QD=24.51;RankSumP=1.00000;SB=-1256.49;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1053T>C;refseq.codingCoordStr_2=c.1053T>C;refseq.codingCoordStr_3=c.1053T>C;refseq.codingCoordStr_4=c.1053T>C;refseq.codonCoord_1=351;refseq.codonCoord_2=351;refseq.codonCoord_3=351;refseq.codonCoord_4=351;refseq.end_1=69703840;refseq.end_2=69703840;refseq.end_3=69703840;refseq.end_4=69703840;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1807;refseq.mrnaCoord_2=1807;refseq.mrnaCoord_3=1807;refseq.mrnaCoord_4=1807;refseq.name2_1=SLC8A3;refseq.name2_2=SLC8A3;refseq.name2_3=SLC8A3;refseq.name2_4=SLC8A3;refseq.name_1=NM_033262;refseq.name_2=NM_058240;refseq.name_3=NM_182932;refseq.name_4=NM_183002;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R351R;refseq.proteinCoordStr_2=p.R351R;refseq.proteinCoordStr_3=p.R351R;refseq.proteinCoordStr_4=p.R351R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=-732;refseq.spliceDist_2=-732;refseq.spliceDist_3=-732;refseq.spliceDist_4=-732;refseq.start_1=69703840;refseq.start_2=69703840;refseq.start_3=69703840;refseq.start_4=69703840;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/1 chr14 69704299 . C T 58.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=2;HaplotypeScore=8.40;MQ=98.90;MQ0=0;OQ=10036.84;QD=40.80;RankSumP=1.00000;SB=-4268.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.594G>A;refseq.codingCoordStr_2=c.594G>A;refseq.codingCoordStr_3=c.594G>A;refseq.codingCoordStr_4=c.594G>A;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.codonCoord_3=198;refseq.codonCoord_4=198;refseq.end_1=69704299;refseq.end_2=69704299;refseq.end_3=69704299;refseq.end_4=69704299;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1348;refseq.mrnaCoord_2=1348;refseq.mrnaCoord_3=1348;refseq.mrnaCoord_4=1348;refseq.name2_1=SLC8A3;refseq.name2_2=SLC8A3;refseq.name2_3=SLC8A3;refseq.name2_4=SLC8A3;refseq.name_1=NM_033262;refseq.name_2=NM_058240;refseq.name_3=NM_182932;refseq.name_4=NM_183002;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K198K;refseq.proteinCoordStr_2=p.K198K;refseq.proteinCoordStr_3=p.K198K;refseq.proteinCoordStr_4=p.K198K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=656;refseq.spliceDist_2=656;refseq.spliceDist_3=656;refseq.spliceDist_4=656;refseq.start_1=69704299;refseq.start_2=69704299;refseq.start_3=69704299;refseq.start_4=69704299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=Intersection GT 1/1 chr14 69994203 rs3751522 C T 0.89 PASS AC=1;AF=0.50;AN=2;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=36.51;MQ0=68;OQ=927.44;QD=4.44;SB=-384.64;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.234C>T;refseq.codonCoord=78;refseq.end=69994203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V78V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=234;refseq.start=69994203;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=gatk GT:AD:DP:GL:GQ 0/1:133,76:128:-134.57,-38.54,-405.20:99 chr14 69994215 . A G 189.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=37.22;MQ0=72;OQ=3597.55;QD=21.54;RankSumP=1.00000;SB=-1733.51;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.246A>G;refseq.codonCoord=82;refseq.end=69994215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L82L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=246;refseq.start=69994215;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr14 69994254 . C G 165.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=50.08;MQ0=81;OQ=2302.22;QD=17.71;RankSumP=1.00000;SB=-220.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.285C>G;refseq.codonCoord=95;refseq.end=69994254;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.D95E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=285;refseq.start=69994254;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr14 69994260 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=5.77;MQ=56.09;MQ0=71;OQ=1242.22;QD=8.87;RankSumP=0.433917;SB=-208.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.291A>C;refseq.codonCoord=97;refseq.end=69994260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=291;refseq.start=69994260;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr14 69994355 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=179;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=85.41;MQ0=4;OQ=2735.76;QD=15.28;RankSumP=5.06753e-08;SB=-1139.51;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.386T>G;refseq.codonCoord=129;refseq.end=69994355;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.F129C;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=386;refseq.start=69994355;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=filterInsoap-gatk GT 1/0 chr14 69994396 . T C 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.479926;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.427T>C;refseq.codonCoord=143;refseq.end=69994396;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y143H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=427;refseq.start=69994396;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr14 69994605 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.745243;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.636A>C;refseq.codonCoord=212;refseq.end=69994605;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L212L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=636;refseq.start=69994605;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr14 69994708 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.414264;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.739A>C;refseq.codonCoord=247;refseq.end=69994708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=739;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.K247Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=739;refseq.start=69994708;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr14 69995010 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=37.70;MQ0=174;OQ=1363.34;QD=6.46;RankSumP=1.00000;SB=-54.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1041A>G;refseq.codonCoord=347;refseq.end=69995010;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L347L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=1041;refseq.start=69995010;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr14 69995254 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=279;Dels=0.00;HRun=0;HaplotypeScore=11.58;MQ=67.63;MQ0=96;OQ=3799.93;QD=13.62;RankSumP=0.274732;SB=-1461.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1285G>C;refseq.codonCoord=429;refseq.end=69995254;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1285;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.E429Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-1122;refseq.start=69995254;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr14 69995571 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.166887;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1602T>C;refseq.codonCoord=534;refseq.end=69995571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1602;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.N534N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-805;refseq.start=69995571;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr14 69995616 . A C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.377403;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1647A>C;refseq.codonCoord=549;refseq.end=69995616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1647;refseq.name=NM_003813;refseq.name2=ADAM21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T549T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-760;refseq.start=69995616;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr14 70269205 . G A 321.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=11.49;MQ=98.84;MQ0=0;OQ=6476.00;QD=18.94;RankSumP=0.233993;SB=-1403.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2676C>T;refseq.codonCoord=892;refseq.end=70269205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2676;refseq.name=NM_033141;refseq.name2=MAP3K9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N892N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-197;refseq.start=70269205;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 70269602 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2279A>C;refseq.codonCoord=760;refseq.end=70269602;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2279;refseq.name=NM_033141;refseq.name2=MAP3K9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H760P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=211;refseq.start=70269602;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr14 70270932 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=459;Dels=0.00;HRun=1;HaplotypeScore=9.42;MQ=98.87;MQ0=0;OQ=9838.67;QD=21.44;RankSumP=0.118845;SB=-3739.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1950G>C;refseq.codonCoord=650;refseq.end=70270932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1950;refseq.name=NM_033141;refseq.name2=MAP3K9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S650S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=37;refseq.start=70270932;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr14 70270945 . T C 260.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=417;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=98.91;MQ0=0;OQ=7523.26;QD=18.04;RankSumP=0.186711;SB=-2098.59;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1937A>G;refseq.codonCoord=646;refseq.end=70270945;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1937;refseq.name=NM_033141;refseq.name2=MAP3K9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y646C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=24;refseq.start=70270945;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr14 70276571 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1631A>C;refseq.codonCoord=544;refseq.end=70276571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_033141;refseq.name2=MAP3K9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N544T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-60;refseq.start=70276571;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr14 70444455 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.30;MQ0=0;OQ=839.44;QD=12.91;RankSumP=0.189435;SB=-265.12;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.135G>A;refseq.codonCoord=45;refseq.end=70444455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_014982;refseq.name2=PCNX;refseq.positionType=CDS;refseq.proteinCoordStr=p.L45L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-19;refseq.start=70444455;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr14 70514272 . G A 72 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=2.80488e-08;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1465G>A;refseq.codonCoord=489;refseq.end=70514272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1911;refseq.name=NM_014982;refseq.name2=PCNX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E489K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-847;refseq.start=70514272;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr14 70514541 . G A 317.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=13.95;MQ=98.85;MQ0=0;OQ=8124.60;QD=18.01;RankSumP=0.0672212;SB=-2197.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1734G>A;refseq.codonCoord=578;refseq.end=70514541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2180;refseq.name=NM_014982;refseq.name2=PCNX;refseq.positionType=CDS;refseq.proteinCoordStr=p.R578R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-578;refseq.start=70514541;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr14 71125221 . A C 189.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.96;MQ0=0;OQ=4619.21;QD=17.37;RankSumP=0.236022;SB=-1734.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.879A>C;refseq.codonCoord=293;refseq.end=71125221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1227;refseq.name=NM_015556;refseq.name2=SIPA1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S293S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-620;refseq.start=71125221;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr14 71186909 . T C 166.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=3.15;MQ=98.73;MQ0=0;OQ=1563.84;QD=15.04;RankSumP=0.437823;SB=-672.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1923T>C;refseq.codonCoord=641;refseq.end=71186909;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2271;refseq.name=NM_015556;refseq.name2=SIPA1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F641F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-71;refseq.start=71186909;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr14 71208992 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.79890e-08;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3004G>T;refseq.codonCoord=1002;refseq.end=71208992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3352;refseq.name=NM_015556;refseq.name2=SIPA1L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1002L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-101;refseq.start=71208992;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr14 72492007 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1011C>G;refseq.codingCoordStr_2=c.966C>G;refseq.codingCoordStr_3=c.1029C>G;refseq.codingCoordStr_4=c.729C>G;refseq.codingCoordStr_5=c.849C>G;refseq.codonCoord_1=337;refseq.codonCoord_2=322;refseq.codonCoord_3=343;refseq.codonCoord_4=243;refseq.codonCoord_5=283;refseq.end_1=72492007;refseq.end_2=72492007;refseq.end_3=72492007;refseq.end_4=72492007;refseq.end_5=72492007;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1231;refseq.mrnaCoord_2=1220;refseq.mrnaCoord_3=1249;refseq.mrnaCoord_4=1149;refseq.mrnaCoord_5=1069;refseq.name2_1=DCAF4;refseq.name2_2=DCAF4;refseq.name2_3=DCAF4;refseq.name2_4=DCAF4;refseq.name2_5=DCAF4;refseq.name_1=NM_001163508;refseq.name_2=NM_001163509;refseq.name_3=NM_015604;refseq.name_4=NM_181340;refseq.name_5=NM_181341;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.C337W;refseq.proteinCoordStr_2=p.C322W;refseq.proteinCoordStr_3=p.C343W;refseq.proteinCoordStr_4=p.C243W;refseq.proteinCoordStr_5=p.C283W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.start_1=72492007;refseq.start_2=72492007;refseq.start_3=72492007;refseq.start_4=72492007;refseq.start_5=72492007;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantAA_5=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;refseq.variantCodon_5=TGG;set=FilteredInAll GT 1/0 chr14 72492103 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=13.99;MQ=98.56;MQ0=0;OQ=1983.50;QD=10.78;RankSumP=0.343974;SB=-830.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1107T>G;refseq.codingCoordStr_2=c.1062T>G;refseq.codingCoordStr_3=c.1125T>G;refseq.codingCoordStr_4=c.825T>G;refseq.codingCoordStr_5=c.945T>G;refseq.codonCoord_1=369;refseq.codonCoord_2=354;refseq.codonCoord_3=375;refseq.codonCoord_4=275;refseq.codonCoord_5=315;refseq.end_1=72492103;refseq.end_2=72492103;refseq.end_3=72492103;refseq.end_4=72492103;refseq.end_5=72492103;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1327;refseq.mrnaCoord_2=1316;refseq.mrnaCoord_3=1345;refseq.mrnaCoord_4=1245;refseq.mrnaCoord_5=1165;refseq.name2_1=DCAF4;refseq.name2_2=DCAF4;refseq.name2_3=DCAF4;refseq.name2_4=DCAF4;refseq.name2_5=DCAF4;refseq.name_1=NM_001163508;refseq.name_2=NM_001163509;refseq.name_3=NM_015604;refseq.name_4=NM_181340;refseq.name_5=NM_181341;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S369S;refseq.proteinCoordStr_2=p.S354S;refseq.proteinCoordStr_3=p.S375S;refseq.proteinCoordStr_4=p.S275S;refseq.proteinCoordStr_5=p.S315S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.referenceCodon_5=TCT;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.spliceDist_5=-55;refseq.start_1=72492103;refseq.start_2=72492103;refseq.start_3=72492103;refseq.start_4=72492103;refseq.start_5=72492103;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;set=Intersection GT 1/0 chr14 72492154 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1158A>G;refseq.codingCoordStr_2=c.1113A>G;refseq.codingCoordStr_3=c.1176A>G;refseq.codingCoordStr_4=c.876A>G;refseq.codingCoordStr_5=c.996A>G;refseq.codonCoord_1=386;refseq.codonCoord_2=371;refseq.codonCoord_3=392;refseq.codonCoord_4=292;refseq.codonCoord_5=332;refseq.end_1=72492154;refseq.end_2=72492154;refseq.end_3=72492154;refseq.end_4=72492154;refseq.end_5=72492154;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1378;refseq.mrnaCoord_2=1367;refseq.mrnaCoord_3=1396;refseq.mrnaCoord_4=1296;refseq.mrnaCoord_5=1216;refseq.name2_1=DCAF4;refseq.name2_2=DCAF4;refseq.name2_3=DCAF4;refseq.name2_4=DCAF4;refseq.name2_5=DCAF4;refseq.name_1=NM_001163508;refseq.name_2=NM_001163509;refseq.name_3=NM_015604;refseq.name_4=NM_181340;refseq.name_5=NM_181341;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G386G;refseq.proteinCoordStr_2=p.G371G;refseq.proteinCoordStr_3=p.G392G;refseq.proteinCoordStr_4=p.G292G;refseq.proteinCoordStr_5=p.G332G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceDist_4=-4;refseq.spliceDist_5=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.spliceInfo_4=splice-donor_-4;refseq.spliceInfo_5=splice-donor_-4;refseq.start_1=72492154;refseq.start_2=72492154;refseq.start_3=72492154;refseq.start_4=72492154;refseq.start_5=72492154;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr14 72507518 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2159A>C;refseq.codingCoordStr_2=c.914A>C;refseq.codonCoord_1=720;refseq.codonCoord_2=305;refseq.end_1=72507518;refseq.end_2=72507518;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2799;refseq.mrnaCoord_2=1021;refseq.name2_1=ZFYVE1;refseq.name2_2=ZFYVE1;refseq.name_1=NM_021260;refseq.name_2=NM_178441;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H720P;refseq.proteinCoordStr_2=p.H305P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=72507518;refseq.start_2=72507518;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr14 72734504 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=59;Dels=0.00;HRun=1;HaplotypeScore=6.70;MQ=96.67;MQ0=0;QD=0.27;RankSumP=0.500000;SB=59.22;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.782T>G;refseq.codingCoordStr_2=c.770T>G;refseq.codonCoord_1=261;refseq.codonCoord_2=257;refseq.end_1=72734504;refseq.end_2=72734504;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1066;refseq.mrnaCoord_2=1054;refseq.name2_1=PSEN1;refseq.name2_2=PSEN1;refseq.name_1=NM_000021;refseq.name_2=NM_007318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V261G;refseq.proteinCoordStr_2=p.V257G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=72734504;refseq.start_2=72734504;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap-filterIngatk GT 1/0 chr14 72753652 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1195A>C;refseq.codingCoordStr_2=c.1183A>C;refseq.codonCoord_1=399;refseq.codonCoord_2=395;refseq.end_1=72753652;refseq.end_2=72753652;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1479;refseq.mrnaCoord_2=1467;refseq.name2_1=PSEN1;refseq.name2_2=PSEN1;refseq.name_1=NM_000021;refseq.name_2=NM_007318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T399P;refseq.proteinCoordStr_2=p.T395P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=72753652;refseq.start_2=72753652;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr14 72797262 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=96.72;MQ0=0;OQ=942.24;QD=13.86;RankSumP=0.477664;SB=-443.82;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1997T>G;refseq.codonCoord=666;refseq.end=72797262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2099;refseq.name=NM_173462;refseq.name2=PAPLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.M666R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-29;refseq.start=72797262;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr14 72823631 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.595A>C;refseq.codingCoordStr_2=c.595A>C;refseq.codingCoordStr_3=c.562A>C;refseq.codingCoordStr_4=c.562A>C;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.codonCoord_3=188;refseq.codonCoord_4=188;refseq.end_1=72823631;refseq.end_2=72823631;refseq.end_3=72823631;refseq.end_4=72823631;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=915;refseq.mrnaCoord_2=915;refseq.mrnaCoord_3=882;refseq.mrnaCoord_4=882;refseq.name2_1=NUMB;refseq.name2_2=NUMB;refseq.name2_3=NUMB;refseq.name2_4=NUMB;refseq.name_1=NM_001005743;refseq.name_2=NM_001005744;refseq.name_3=NM_001005745;refseq.name_4=NM_003744;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T199P;refseq.proteinCoordStr_2=p.T199P;refseq.proteinCoordStr_3=p.T188P;refseq.proteinCoordStr_4=p.T188P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.start_1=72823631;refseq.start_2=72823631;refseq.start_3=72823631;refseq.start_4=72823631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr14 73033136 . T C 334.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.91;MQ0=0;OQ=9379.19;QD=42.44;RankSumP=1.00000;SB=-2636.06;SecondBestBaseQ=0;refseq.chr=chr14;refseq.codingCoordStr=c.2407-1;refseq.end=73033136;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_203309;refseq.name2=HEATR4;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=73033136;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr14 73059142 . G A 206.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.80;MQ0=0;OQ=2529.76;QD=16.32;RankSumP=0.424703;SB=-1197.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.327C>T;refseq.codonCoord=109;refseq.end=73059142;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_203309;refseq.name2=HEATR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-414;refseq.start=73059142;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 73074159 . T G 17.12 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=17;DP=26;Dels=0.00;HRun=2;HaplotypeScore=3.33;MQ=30.46;MQ0=6;QD=0.66;RankSumP=1.00000;SB=20.09;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.281T>G;refseq.codonCoord_2=94;refseq.end_1=73095197;refseq.end_2=73074159;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=479;refseq.name2_1=HEATR4;refseq.name2_2=ACOT1;refseq.name_1=NM_203309;refseq.name_2=NM_001037161;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V94G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-177;refseq.start_1=73059692;refseq.start_2=73074159;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/1 chr14 73106164 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.599223;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.467T>G;refseq.codonCoord=156;refseq.end=73106164;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_006821;refseq.name2=ACOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V156G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-177;refseq.start=73106164;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 73111501 . A G 49.28 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.62;MQ0=25;QD=1.83;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.983A>G;refseq.codonCoord=328;refseq.end=73111501;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_006821;refseq.name2=ACOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H328R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=137;refseq.start=73111501;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/1 chr14 73111942 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=708;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=33.53;MQ0=610;OQ=850.97;QD=1.20;RankSumP=0.450092;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1424A>G;refseq.codonCoord=475;refseq.end=73111942;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_006821;refseq.name2=ACOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H475R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-171;refseq.start=73111942;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr14 73128585 . C T 107.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=96.23;MQ0=0;OQ=340.52;QD=17.03;RankSumP=0.272380;SB=-146.60;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.169C>T;refseq.codonCoord=57;refseq.end=73128585;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_152331;refseq.name2=ACOT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R57C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-289;refseq.start=73128585;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr14 73131721 . T C 267.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.22;MQ0=6;OQ=9117.20;QD=38.15;RankSumP=1.00000;SB=-4221.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.876T>C;refseq.codonCoord=292;refseq.end=73131721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_152331;refseq.name2=ACOT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I292I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=216;refseq.start=73131721;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr14 73155775 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.103A>C;refseq.codonCoord=35;refseq.end=73155775;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_001037162;refseq.name2=ACOT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T35P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=85;refseq.start=73155775;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr14 73156168 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.49;MQ0=0;OQ=2094.04;QD=12.46;RankSumP=0.355098;SB=-916.30;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.496G>A;refseq.codonCoord=166;refseq.end=73156168;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_001037162;refseq.name2=ACOT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E166K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-178;refseq.start=73156168;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr14 73249518 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.578T>G;refseq.codonCoord=193;refseq.end=73249518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1364;refseq.name=NM_006029;refseq.name2=PNMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V193G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1280;refseq.start=73249518;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 73266334 . G A 103.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=98.56;MQ0=0;OQ=1332.78;QD=16.25;RankSumP=0.00805075;SB=-319.78;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1857C>T;refseq.codingCoordStr_2=c.1857C>T;refseq.codonCoord_1=619;refseq.codonCoord_2=619;refseq.end_1=73266334;refseq.end_2=73266334;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2196;refseq.mrnaCoord_2=2640;refseq.name2_1=C14orf43;refseq.name2_2=C14orf43;refseq.name_1=NM_001043318;refseq.name_2=NM_194278;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I619I;refseq.proteinCoordStr_2=p.I619I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.start_1=73266334;refseq.start_2=73266334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=filterInsoap-gatk GT 1/0 chr14 73266439 . T C 101.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.28;MQ=98.97;MQ0=0;OQ=1464.71;QD=17.03;RankSumP=0.0598402;SB=-364.65;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1752A>G;refseq.codingCoordStr_2=c.1752A>G;refseq.codonCoord_1=584;refseq.codonCoord_2=584;refseq.end_1=73266439;refseq.end_2=73266439;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2091;refseq.mrnaCoord_2=2535;refseq.name2_1=C14orf43;refseq.name2_2=C14orf43;refseq.name_1=NM_001043318;refseq.name_2=NM_194278;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A584A;refseq.proteinCoordStr_2=p.A584A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=73266439;refseq.start_2=73266439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr14 73276234 . T C 169.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=7.05;MQ=98.39;MQ0=0;OQ=2565.20;QD=34.66;RankSumP=1.00000;SB=-589.88;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.231A>G;refseq.codingCoordStr_2=c.231A>G;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=73276234;refseq.end_2=73276234;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=570;refseq.mrnaCoord_2=1014;refseq.name2_1=C14orf43;refseq.name2_2=C14orf43;refseq.name_1=NM_001043318;refseq.name_2=NM_194278;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V77V;refseq.proteinCoordStr_2=p.V77V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=478;refseq.spliceDist_2=478;refseq.start_1=73276234;refseq.start_2=73276234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr14 73416521 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.740A>C;refseq.codingCoordStr_2=c.740A>C;refseq.codingCoordStr_3=c.740A>C;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.codonCoord_3=247;refseq.end_1=73416521;refseq.end_2=73416521;refseq.end_3=73416521;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=900;refseq.mrnaCoord_2=948;refseq.mrnaCoord_3=990;refseq.name2_1=PTGR2;refseq.name2_2=PTGR2;refseq.name2_3=PTGR2;refseq.name_1=NM_001146154;refseq.name_2=NM_001146155;refseq.name_3=NM_152444;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N247T;refseq.proteinCoordStr_2=p.N247T;refseq.proteinCoordStr_3=p.N247T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=73416521;refseq.start_2=73416521;refseq.start_3=73416521;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr14 73481098 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=1.58314e-08;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.618T>G;refseq.codonCoord=206;refseq.end=73481098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_152445;refseq.name2=FAM161B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G206G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=244;refseq.start=73481098;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 73593622 . A G 336.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.92;MQ0=0;OQ=5207.10;QD=18.80;RankSumP=0.499658;SB=-1302.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1486A>G;refseq.codonCoord=496;refseq.end=73593622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_025057;refseq.name2=C14orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.K496E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=23;refseq.start=73593622;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 73593702 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=8.27;MQ=99.00;MQ0=0;OQ=3198.85;QD=14.15;RankSumP=0.486042;SB=-666.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1566G>A;refseq.codonCoord=522;refseq.end=73593702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_025057;refseq.name2=C14orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q522Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-13;refseq.start=73593702;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr14 73605327 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.841C>A;refseq.codonCoord=281;refseq.end=73605327;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_005589;refseq.name2=ALDH6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q281K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-12;refseq.start=73605327;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr14 73781636 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=1058.07;QD=13.56;RankSumP=0.266694;SB=-328.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.471C>T;refseq.codonCoord=157;refseq.end=73781636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_182894;refseq.name2=VSX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S157S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=16;refseq.start=73781636;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr14 73826529 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.88621e-09;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1373T>C;refseq.codonCoord_2=458;refseq.end_1=73826529;refseq.end_2=73826529;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1525;refseq.name2_1=ABCD4;refseq.name2_2=ABCD4;refseq.name_1=NR_003256;refseq.name_2=NM_005050;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F458S;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=73826529;refseq.start_2=73826529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr14 73893755 . C T 316.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=13.04;MQ=98.49;MQ0=0;OQ=7640.07;QD=17.98;RankSumP=0.175622;SB=-2749.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.516C>T;refseq.codonCoord=172;refseq.end=73893755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_018228;refseq.name2=C14orf115;refseq.positionType=CDS;refseq.proteinCoordStr=p.N172N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=517;refseq.start=73893755;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr14 73893921 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.682A>C;refseq.codonCoord=228;refseq.end=73893921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_018228;refseq.name2=C14orf115;refseq.positionType=CDS;refseq.proteinCoordStr=p.T228P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=683;refseq.start=73893921;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 73946108 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.15;MQ0=0;OQ=758.67;QD=19.45;RankSumP=0.744247;SB=-393.50;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.93C>G;refseq.codonCoord=31;refseq.end=73946108;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_001105579;refseq.name2=TMEM90A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S31R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=150;refseq.start=73946108;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr14 74061608 . A G 287.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.54;MQ0=0;OQ=4184.16;QD=36.38;RankSumP=1.00000;SB=-1897.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2502T>C;refseq.codonCoord=834;refseq.end=74061608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2889;refseq.name=NM_000428;refseq.name2=LTBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T834T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-29;refseq.start=74061608;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr14 74062553 . A G 107.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=2.30;MQ=98.02;MQ0=0;OQ=942.71;QD=14.28;RankSumP=0.174717;SB=-406.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2406T>C;refseq.codonCoord=802;refseq.end=74062553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2793;refseq.name=NM_000428;refseq.name2=LTBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T802T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=18;refseq.start=74062553;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr14 74203959 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.58873e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2006C>G;refseq.codonCoord=669;refseq.end=74203959;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2511;refseq.name=NM_001039479;refseq.name2=KIAA0317;refseq.positionType=CDS;refseq.proteinCoordStr=p.A669G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-39;refseq.start=74203959;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr14 74456329 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=90.44;MQ0=0;OQ=582.04;QD=9.39;RankSumP=0.612659;SB=-232.72;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.362C>T;refseq.codonCoord=121;refseq.end=74456329;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=847;refseq.name=NM_031464;refseq.name2=RPS6KL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P121L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-29;refseq.start=74456329;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr14 74457936 . C T 109.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=98.71;MQ0=0;OQ=6875.33;QD=23.47;RankSumP=0.498636;SB=-1200.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.62G>A;refseq.codonCoord=21;refseq.end=74457936;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_031464;refseq.name2=RPS6KL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R21Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=82;refseq.start=74457936;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr14 74485949 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.179A>G;refseq.codonCoord=60;refseq.end=74485949;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_002632;refseq.name2=PGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.D60G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=61;refseq.start=74485949;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr14 74485952 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.176T>G;refseq.codonCoord=59;refseq.end=74485952;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_002632;refseq.name2=PGF;refseq.positionType=CDS;refseq.proteinCoordStr=p.V59G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=58;refseq.start=74485952;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 74539853 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr14;refseq.codingCoordStr=c.284+2;refseq.end=74539853;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014239;refseq.name2=EIF2B2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=74539853;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr14 74553565 . T C 101.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=675;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.72;MQ0=0;OQ=27985.51;QD=41.46;RankSumP=1.00000;SB=-10322.57;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.4335A>G;refseq.codingCoordStr_2=c.4263A>G;refseq.codonCoord_1=1445;refseq.codonCoord_2=1421;refseq.end_1=74553565;refseq.end_2=74553565;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4551;refseq.mrnaCoord_2=4479;refseq.name2_1=MLH3;refseq.name2_2=MLH3;refseq.name_1=NM_001040108;refseq.name_2=NM_014381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1445Q;refseq.proteinCoordStr_2=p.Q1421Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=74553565;refseq.start_2=74553565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr14 74583636 . T C 233.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=354;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.58;MQ0=0;OQ=14750.08;QD=41.67;RankSumP=1.00000;SB=-6449.38;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2476A>G;refseq.codingCoordStr_2=c.2476A>G;refseq.codonCoord_1=826;refseq.codonCoord_2=826;refseq.end_1=74583636;refseq.end_2=74583636;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2692;refseq.mrnaCoord_2=2692;refseq.name2_1=MLH3;refseq.name2_2=MLH3;refseq.name_1=NM_001040108;refseq.name_2=NM_014381;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N826D;refseq.proteinCoordStr_2=p.N826D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-805;refseq.spliceDist_2=-805;refseq.start_1=74583636;refseq.start_2=74583636;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr14 74607134 . C T 288.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4141.03;QD=42.26;RankSumP=1.00000;SB=-1094.42;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.105C>T;refseq.codingCoordStr_2=c.105C>T;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=74607134;refseq.end_2=74607134;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=278;refseq.mrnaCoord_2=278;refseq.name2_1=FAM164C;refseq.name2_2=FAM164C;refseq.name_1=NM_001042430;refseq.name_2=NM_024643;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y35Y;refseq.proteinCoordStr_2=p.Y35Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=124;refseq.spliceDist_2=124;refseq.start_1=74607134;refseq.start_2=74607134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr14 74607970 . G T 315.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=4663.58;QD=39.19;RankSumP=1.00000;SB=-2207.02;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.941G>T;refseq.codonCoord_2=314;refseq.end_1=74613977;refseq.end_2=74607970;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1114;refseq.name2_1=FAM164C;refseq.name2_2=FAM164C;refseq.name_1=NM_001042430;refseq.name_2=NM_024643;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G314V;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=-398;refseq.start_1=74607863;refseq.start_2=74607970;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr14 74643840 . C T 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=20.36;MQ=98.74;MQ0=0;OQ=15053.22;QD=41.58;RankSumP=1.00000;SB=-6157.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1286G>A;refseq.codonCoord=429;refseq.end=74643840;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_033116;refseq.name2=NEK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R429H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-42;refseq.start=74643840;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr14 74646216 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1107T>G;refseq.codonCoord=369;refseq.end=74646216;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_033116;refseq.name2=NEK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C369W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-76;refseq.start=74646216;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr14 74660575 . G A 361.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=99.00;MQ0=0;OQ=9183.24;QD=41.74;RankSumP=1.00000;SB=-3854.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.324C>T;refseq.codonCoord=108;refseq.end=74660575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_033116;refseq.name2=NEK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H108H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-74;refseq.start=74660575;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr14 74663317 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.285714;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.61G>C;refseq.codonCoord=21;refseq.end=74663317;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=215;refseq.name=NM_033116;refseq.name2=NEK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E21Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-159;refseq.start=74663317;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr14 74816421 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.230T>G;refseq.codonCoord=77;refseq.end=74816421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_005252;refseq.name2=FOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V77G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=89;refseq.start=74816421;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 74816443 . C T 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=17.03;MQ=97.56;MQ0=0;OQ=5094.90;QD=35.38;RankSumP=1.00000;SB=-182.22;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=74816443;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_005252;refseq.name2=FOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S84S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=111;refseq.start=74816443;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr14 74974413 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=540.97;QD=10.02;RankSumP=0.748365;SB=-224.59;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.37A>G;refseq.codingCoordStr_2=c.37A>G;refseq.codingCoordStr_3=c.70A>G;refseq.codingCoordStr_4=c.37A>G;refseq.codonCoord_1=13;refseq.codonCoord_2=13;refseq.codonCoord_3=24;refseq.codonCoord_4=13;refseq.end_1=74974413;refseq.end_2=74974413;refseq.end_3=74974413;refseq.end_4=74974413;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=104;refseq.mrnaCoord_2=96;refseq.mrnaCoord_3=263;refseq.mrnaCoord_4=310;refseq.name2_1=JDP2;refseq.name2_2=JDP2;refseq.name2_3=JDP2;refseq.name2_4=JDP2;refseq.name_1=NM_001135047;refseq.name_2=NM_001135048;refseq.name_3=NM_001135049;refseq.name_4=NM_130469;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T13A;refseq.proteinCoordStr_2=p.T13A;refseq.proteinCoordStr_3=p.T24A;refseq.proteinCoordStr_4=p.T13A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.start_1=74974413;refseq.start_2=74974413;refseq.start_3=74974413;refseq.start_4=74974413;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 0/1 chr14 75115444 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=686;Dels=0.00;HRun=1;HaplotypeScore=13.06;MQ=99.03;MQ0=0;OQ=14044.83;QD=20.47;RankSumP=0.297648;SB=-5262.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.376C>T;refseq.codonCoord=126;refseq.end=75115444;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_017791;refseq.name2=FLVCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L126L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-294;refseq.start=75115444;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr14 75226362 . C T 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=4;HaplotypeScore=6.15;MQ=99.00;MQ0=0;OQ=6804.90;QD=42.27;RankSumP=1.00000;SB=-2729.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.446C>T;refseq.codonCoord=149;refseq.end=75226362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_015072;refseq.name2=TTLL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A149V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-57;refseq.start=75226362;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr14 75507231 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.637T>G;refseq.codonCoord_2=213;refseq.end_1=75577141;refseq.end_2=75507231;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1493;refseq.name2_1=BCYRN1;refseq.name2_2=TGFB3;refseq.name_1=NR_001568;refseq.name_2=NM_003239;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L213V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=75406467;refseq.start_2=75507231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr14 75612757 . G A 157.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.86;MQ0=0;OQ=6198.28;QD=19.99;RankSumP=0.224731;SB=-2267.16;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_3=c.280G>A;refseq.codonCoord_3=94;refseq.end_1=75658510;refseq.end_2=75618380;refseq.end_3=75612757;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=314;refseq.name2_1=BCYRN1;refseq.name2_2=C14orf179;refseq.name2_3=C14orf179;refseq.name_1=NR_001568;refseq.name_2=NM_001102564;refseq.name_3=NM_052873;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D94N;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAT;refseq.spliceDist_3=-31;refseq.start_1=75577175;refseq.start_2=75595480;refseq.start_3=75612757;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asn;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr14 76027640 . T C 284.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=1816.78;QD=34.28;RankSumP=1.00000;SB=-900.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.885T>C;refseq.codonCoord=295;refseq.end=76027640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_004452;refseq.name2=ESRRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y295Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=98;refseq.start=76027640;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr14 76562644 . G A 347.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.75;MQ0=0;OQ=8637.84;QD=41.33;RankSumP=1.00000;SB=-4307.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1245C>T;refseq.codonCoord=415;refseq.end=76562644;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2144;refseq.name=NM_024496;refseq.name2=C14orf4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y415Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-2006;refseq.start=76562644;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr14 76814946 . A C 303.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.34;MQ0=0;OQ=986.87;QD=37.96;RankSumP=1.00000;SB=-48.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1911T>G;refseq.codonCoord=637;refseq.end=76814946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2112;refseq.name=NM_013382;refseq.name2=POMT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L637L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=20;refseq.start=76814946;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr14 76821678 . C T 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=3605.83;QD=41.93;RankSumP=1.00000;SB=-1786.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1383G>A;refseq.codonCoord=461;refseq.end=76821678;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1584;refseq.name=NM_013382;refseq.name2=POMT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R461R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=51;refseq.start=76821678;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr14 76862960 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=98.71;MQ0=0;OQ=2239.81;QD=20.00;RankSumP=0.144758;SB=-798.25;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.-72G>A;refseq.codingCoordStr_2=c.94G>A;refseq.codingCoordStr_3=c.94G>A;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.end_1=76862960;refseq.end_2=76862960;refseq.end_3=76862960;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=466;refseq.mrnaCoord_2=376;refseq.mrnaCoord_3=376;refseq.name2_1=GSTZ1;refseq.name2_2=GSTZ1;refseq.name2_3=GSTZ1;refseq.name_1=NM_001513;refseq.name_2=NM_145870;refseq.name_3=NM_145871;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E32K;refseq.proteinCoordStr_3=p.E32K;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=76862960;refseq.start_2=76862960;refseq.start_3=76862960;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/0 chr14 76864036 . T C 347.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.43;MQ0=0;OQ=6728.18;QD=35.60;RankSumP=1.00000;SB=-3270.64;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.80T>C;refseq.codingCoordStr_3=c.245T>C;refseq.codonCoord_2=27;refseq.codonCoord_3=82;refseq.end_1=76865208;refseq.end_2=76864036;refseq.end_3=76864036;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=617;refseq.mrnaCoord_3=527;refseq.name2_1=GSTZ1;refseq.name2_2=GSTZ1;refseq.name2_3=GSTZ1;refseq.name_1=NM_145871;refseq.name_2=NM_001513;refseq.name_3=NM_145870;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.M27T;refseq.proteinCoordStr_3=p.M82T;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=76863659;refseq.start_2=76864036;refseq.start_3=76864036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr14 76913567 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.67;MQ0=0;OQ=932.08;QD=13.13;RankSumP=0.113393;SB=-464.93;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.53T>C;refseq.codonCoord=18;refseq.end=76913567;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=53;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.L18P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=53;refseq.start=76913567;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr14 76913724 . C T 186.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=99.00;MQ0=0;OQ=1213.84;QD=18.39;RankSumP=0.406505;SB=-624.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.210C>T;refseq.codonCoord=70;refseq.end=76913724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.D70D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=210;refseq.start=76913724;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr14 76914018 . G A 190.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=98.73;MQ0=0;OQ=2713.50;QD=16.06;RankSumP=0.302447;SB=-972.05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.504G>A;refseq.codonCoord=168;refseq.end=76914018;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.M168I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=504;refseq.start=76914018;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr14 76914345 . T A 102.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=534.12;QD=22.25;RankSumP=0.658970;SB=-207.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.831T>A;refseq.codonCoord=277;refseq.end=76914345;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.G277G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=831;refseq.start=76914345;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr14 76914622 . A G 110.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.82;MQ0=0;OQ=1800.58;QD=16.83;RankSumP=0.0478252;SB=-445.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1108A>G;refseq.codonCoord=370;refseq.end=76914622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1108;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.K370E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-582;refseq.start=76914622;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 76914874 . A G 293.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.82;MQ0=0;OQ=4348.85;QD=21.64;RankSumP=0.411377;SB=-1845.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1360A>G;refseq.codonCoord=454;refseq.end=76914874;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1360;refseq.name=NM_001010860;refseq.name2=C14orf174;refseq.positionType=CDS;refseq.proteinCoordStr=p.K454E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-330;refseq.start=76914874;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 76950058 . C T 156.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=98.69;MQ0=0;OQ=1745.90;QD=14.80;RankSumP=0.453031;SB=-679.69;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.321G>A;refseq.codingCoordStr_2=c.321G>A;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=76950058;refseq.end_2=76950058;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=468;refseq.mrnaCoord_2=321;refseq.name2_1=C14orf148;refseq.name2_2=C14orf148;refseq.name_1=NM_001113475;refseq.name_2=NM_138791;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R107R;refseq.proteinCoordStr_2=p.R107R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=76950058;refseq.start_2=76950058;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 0/1 chr14 76995764 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=667;Dels=0.00;HRun=1;HaplotypeScore=10.62;MQ=98.81;MQ0=0;OQ=14904.64;QD=22.35;RankSumP=0.402038;SB=-5583.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.133C>T;refseq.codonCoord=45;refseq.end=76995764;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_012111;refseq.name2=AHSA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L45L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=53;refseq.start=76995764;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr14 76998278 . A G 344.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=98.89;MQ0=0;OQ=4203.11;QD=17.96;RankSumP=0.491852;SB=-1243.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.294A>G;refseq.codonCoord=98;refseq.end=76998278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_012111;refseq.name2=AHSA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q98Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=23;refseq.start=76998278;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr14 77005273 . G A 230.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.61;MQ0=0;OQ=2088.80;QD=18.32;RankSumP=0.230982;SB=-311.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.945G>A;refseq.codonCoord=315;refseq.end=77005273;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1105;refseq.name=NM_012111;refseq.name2=AHSA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T315T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=101;refseq.start=77005273;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr14 77020877 . C T 357.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.82;MQ0=0;OQ=2194.48;QD=37.84;RankSumP=1.00000;SB=-585.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.280G>A;refseq.codingCoordStr_2=c.280G>A;refseq.codonCoord_1=94;refseq.codonCoord_2=94;refseq.end_1=77020877;refseq.end_2=77020877;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=354;refseq.mrnaCoord_2=354;refseq.name2_1=ISM2;refseq.name2_2=ISM2;refseq.name_1=NM_182509;refseq.name_2=NM_199296;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A94T;refseq.proteinCoordStr_2=p.A94T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-105;refseq.spliceDist_2=-105;refseq.start_1=77020877;refseq.start_2=77020877;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr14 77098556 . A G 328.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.84;MQ0=0;OQ=4494.28;QD=39.77;RankSumP=1.00000;SB=-1803.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.786T>C;refseq.codonCoord=262;refseq.end=77098556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_004863;refseq.name2=SPTLC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N262N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=30;refseq.start=77098556;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 77210082 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=34.37;MQ=98.20;MQ0=0;OQ=2221.08;QD=9.92;RankSumP=0.200504;SB=-812.40;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.996C>T;refseq.codonCoord=332;refseq.end=77210082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_006020;refseq.name2=ALKBH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S332S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=256;refseq.start=77210082;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr14 77210092 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.986T>G;refseq.codonCoord=329;refseq.end=77210092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_006020;refseq.name2=ALKBH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V329G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=246;refseq.start=77210092;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 77210108 . T A 133.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.50;MQ0=0;OQ=2435.42;QD=13.61;RankSumP=0.373047;SB=-779.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.970A>T;refseq.codonCoord=324;refseq.end=77210108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_006020;refseq.name2=ALKBH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M324L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=230;refseq.start=77210108;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr14 77244226 . A C 299.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=98.60;MQ0=0;OQ=4081.82;QD=32.65;RankSumP=1.00000;SB=-1186.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.19A>C;refseq.codonCoord=7;refseq.end=77244226;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_031210;refseq.name2=C14orf156;refseq.positionType=CDS;refseq.proteinCoordStr=p.R7R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=49;refseq.start=77244226;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr14 77254319 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=97.09;MQ0=1;OQ=2126.22;QD=15.75;RankSumP=0.183127;SB=-438.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1476G>T;refseq.codonCoord=492;refseq.end=77254319;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1503;refseq.name=NM_012245;refseq.name2=SNW1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V492V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=64;refseq.start=77254319;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr14 77304549 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=8.30;MQ=51.19;MQ0=101;OQ=1194.27;QD=7.42;RankSumP=0.254081;SB=-476.84;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.76C>T;refseq.codonCoord_2=26;refseq.end_1=77305483;refseq.end_2=77304549;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=289;refseq.name2_1=C14orf178;refseq.name2_2=C14orf178;refseq.name_1=NM_001173978;refseq.name_2=NM_174943;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H26Y;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=77297223;refseq.start_2=77304549;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr14 80321008 . T C 341.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.72;MQ0=0;OQ=7141.52;QD=19.95;RankSumP=0.423902;SB=-2239.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2195A>G;refseq.codonCoord=732;refseq.end=80321008;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2366;refseq.name=NM_152446;refseq.name2=C14orf145;refseq.positionType=CDS;refseq.proteinCoordStr=p.H732R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-17;refseq.start=80321008;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr14 80644712 . A G 241.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=97.28;MQ0=0;OQ=5792.61;QD=36.66;RankSumP=1.00000;SB=-2411.64;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.696A>G;refseq.codingCoordStr_3=c.759A>G;refseq.codonCoord_2=232;refseq.codonCoord_3=253;refseq.end_1=80675765;refseq.end_2=80644712;refseq.end_3=80644712;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=852;refseq.mrnaCoord_3=915;refseq.name2_1=TSHR;refseq.name2_2=TSHR;refseq.name2_3=TSHR;refseq.name_1=NM_000369;refseq.name_2=NM_001018036;refseq.name_3=NM_001142626;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L232L;refseq.proteinCoordStr_3=p.L253L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_2=4;refseq.spliceDist_3=67;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=80644560;refseq.start_2=80644712;refseq.start_3=80644712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr14 80644758 . C A 274.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=3.28;MQ=98.22;MQ0=0;OQ=5451.91;QD=35.63;RankSumP=1.00000;SB=-2019.08;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_2=c.742C>A;refseq.codingCoordStr_3=c.805C>A;refseq.codonCoord_2=248;refseq.codonCoord_3=269;refseq.end_1=80675765;refseq.end_2=80644758;refseq.end_3=80644758;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=898;refseq.mrnaCoord_3=961;refseq.name2_1=TSHR;refseq.name2_2=TSHR;refseq.name2_3=TSHR;refseq.name_1=NM_000369;refseq.name_2=NM_001018036;refseq.name_3=NM_001142626;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R248S;refseq.proteinCoordStr_3=p.R269S;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_2=50;refseq.spliceDist_3=113;refseq.start_1=80644560;refseq.start_2=80644758;refseq.start_3=80644758;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr14 80679476 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=609;Dels=0.00;HRun=2;HaplotypeScore=53.46;MQ=96.80;MQ0=0;OQ=1644.41;QD=2.70;RankSumP=0.00000;SB=772.44;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1321A>C;refseq.codonCoord=441;refseq.end=80679476;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1477;refseq.name=NM_000369;refseq.name2=TSHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T441P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=440;refseq.start=80679476;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 80680336 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.65;MQ0=0;OQ=18403.77;QD=48.30;RankSumP=1.00000;SB=-8412.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2181G>C;refseq.codonCoord=727;refseq.end=80680336;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2337;refseq.name=NM_000369;refseq.name2=TSHR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E727D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1300;refseq.start=80680336;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr14 80806829 . A C 357.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2035.95;QD=36.36;RankSumP=1.00000;SB=-1030.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2551T>G;refseq.codonCoord=851;refseq.end=80806829;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2752;refseq.name=NM_033104;refseq.name2=STON2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S851A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=141;refseq.start=80806829;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr14 80814489 . A G 342.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=3.01;MQ=99.00;MQ0=0;OQ=6060.95;QD=40.68;RankSumP=1.00000;SB=-2011.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.919T>C;refseq.codonCoord=307;refseq.end=80814489;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_033104;refseq.name2=STON2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S307P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=348;refseq.start=80814489;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr14 85157809 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=1;HaplotypeScore=8.26;MQ=98.98;MQ0=0;OQ=17111.79;QD=37.69;RankSumP=1.00000;SB=-7665.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.198T>C;refseq.codonCoord=66;refseq.end=85157809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=965;refseq.name=NM_013231;refseq.name2=FLRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T66T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=574;refseq.start=85157809;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr14 85159068 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=508;Dels=0.00;HRun=1;HaplotypeScore=7.36;MQ=98.78;MQ0=0;OQ=9598.34;QD=18.89;RankSumP=0.0771911;SB=-4016.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1457G>A;refseq.codonCoord=486;refseq.end=85159068;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2224;refseq.name=NM_013231;refseq.name2=FLRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R486Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1833;refseq.start=85159068;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr14 87470966 . T C 312.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=98.76;MQ0=0;OQ=11235.54;QD=38.35;RankSumP=1.00000;SB=-4589.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1921A>G;refseq.codonCoord=641;refseq.end=87470966;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2320;refseq.name=NM_000153;refseq.name2=GALC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T641A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=87470966;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr14 87477628 . T A 302.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.18;MQ0=0;OQ=8667.88;QD=40.69;RankSumP=1.00000;SB=-4315.53;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1698A>T;refseq.codonCoord=566;refseq.end=87477628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2097;refseq.name=NM_000153;refseq.name2=GALC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V566V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=28;refseq.start=87477628;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr14 87481700 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=453;Dels=0.00;HRun=0;HaplotypeScore=69.37;MQ=97.95;MQ0=0;OQ=11033.65;QD=24.36;RankSumP=1.00000;SB=-518.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1620A>G;refseq.codonCoord=540;refseq.end=87481700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_000153;refseq.name2=GALC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T540T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-51;refseq.start=87481700;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/1 chr14 87501651 . C T 71.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=1;HaplotypeScore=15.77;MQ=98.30;MQ0=0;OQ=11406.70;QD=38.15;RankSumP=1.00000;SB=-4565.74;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.984G>A;refseq.codingCoordStr_2=c.984G>A;refseq.codonCoord_1=328;refseq.codonCoord_2=328;refseq.end_1=87501651;refseq.end_2=87501651;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1383;refseq.mrnaCoord_2=1383;refseq.name2_1=GALC;refseq.name2_2=GALC;refseq.name_1=NM_000153;refseq.name_2=NM_001037525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q328Q;refseq.proteinCoordStr_2=p.Q328Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=87501651;refseq.start_2=87501651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr14 87529246 . G T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.114219;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.16C>A;refseq.codingCoordStr_2=c.16C>A;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=87529246;refseq.end_2=87529246;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=415;refseq.mrnaCoord_2=415;refseq.name2_1=GALC;refseq.name2_2=GALC;refseq.name_1=NM_000153;refseq.name_2=NM_001037525;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L6I;refseq.proteinCoordStr_2=p.L6I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-180;refseq.spliceDist_2=-180;refseq.start_1=87529246;refseq.start_2=87529246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT 0/1 chr14 87547166 . C T 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=605;Dels=0.00;HRun=1;HaplotypeScore=15.43;MQ=98.89;MQ0=0;OQ=26124.89;QD=43.18;RankSumP=1.00000;SB=-9000.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.222C>T;refseq.codonCoord=74;refseq.end=87547166;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=752;refseq.name=NM_003608;refseq.name2=GPR65;refseq.positionType=CDS;refseq.proteinCoordStr=p.T74T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=681;refseq.start=87547166;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr14 87763478 . G C 300.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=15.11;MQ=98.36;MQ0=0;OQ=7226.03;QD=18.92;RankSumP=0.273116;SB=-2057.34;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.660C>G;refseq.codingCoordStr_2=c.675C>G;refseq.codingCoordStr_3=c.675C>G;refseq.codonCoord_1=220;refseq.codonCoord_2=225;refseq.codonCoord_3=225;refseq.end_1=87763478;refseq.end_2=87763478;refseq.end_3=87763478;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1117;refseq.mrnaCoord_2=1126;refseq.mrnaCoord_3=797;refseq.name2_1=KCNK10;refseq.name2_2=KCNK10;refseq.name2_3=KCNK10;refseq.name_1=NM_021161;refseq.name_2=NM_138317;refseq.name_3=NM_138318;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V220V;refseq.proteinCoordStr_2=p.V225V;refseq.proteinCoordStr_3=p.V225V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=87763478;refseq.start_2=87763478;refseq.start_3=87763478;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 0/1 chr14 87763535 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.603A>G;refseq.codingCoordStr_2=c.618A>G;refseq.codingCoordStr_3=c.618A>G;refseq.codonCoord_1=201;refseq.codonCoord_2=206;refseq.codonCoord_3=206;refseq.end_1=87763535;refseq.end_2=87763535;refseq.end_3=87763535;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=1069;refseq.mrnaCoord_3=740;refseq.name2_1=KCNK10;refseq.name2_2=KCNK10;refseq.name2_3=KCNK10;refseq.name_1=NM_021161;refseq.name_2=NM_138317;refseq.name_3=NM_138318;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G201G;refseq.proteinCoordStr_2=p.G206G;refseq.proteinCoordStr_3=p.G206G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.start_1=87763535;refseq.start_2=87763535;refseq.start_3=87763535;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr14 89468660 . G A 307.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.33;MQ0=0;OQ=4449.70;QD=21.92;RankSumP=0.458141;SB=-1563.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.282C>T;refseq.codonCoord=94;refseq.end=89468660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_145231;refseq.name2=C14orf143;refseq.positionType=CDS;refseq.proteinCoordStr=p.N94N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-38;refseq.start=89468660;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 89814473 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3455G>C;refseq.codingCoordStr_2=c.2762G>C;refseq.codonCoord_1=1152;refseq.codonCoord_2=921;refseq.end_1=89814473;refseq.end_2=89814473;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3486;refseq.mrnaCoord_2=3143;refseq.name2_1=C14orf102;refseq.name2_2=C14orf102;refseq.name_1=NM_017970;refseq.name_2=NM_199043;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1152P;refseq.proteinCoordStr_2=p.R921P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=89814473;refseq.start_2=89814473;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr14 89815175 . T C 341.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.67;MQ0=0;OQ=10125.32;QD=40.02;RankSumP=1.00000;SB=-4485.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3353A>G;refseq.codingCoordStr_2=c.2660A>G;refseq.codonCoord_1=1118;refseq.codonCoord_2=887;refseq.end_1=89815175;refseq.end_2=89815175;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3384;refseq.mrnaCoord_2=3041;refseq.name2_1=C14orf102;refseq.name2_2=C14orf102;refseq.name_1=NM_017970;refseq.name_2=NM_199043;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1118S;refseq.proteinCoordStr_2=p.N887S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=89815175;refseq.start_2=89815175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr14 89837360 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=3;HaplotypeScore=3.97;MQ=98.70;MQ0=0;OQ=15680.75;QD=41.16;RankSumP=1.00000;SB=-5887.48;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1521G>A;refseq.codingCoordStr_2=c.828G>A;refseq.codonCoord_1=507;refseq.codonCoord_2=276;refseq.end_1=89837360;refseq.end_2=89837360;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1552;refseq.mrnaCoord_2=1209;refseq.name2_1=C14orf102;refseq.name2_2=C14orf102;refseq.name_1=NM_017970;refseq.name_2=NM_199043;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V507V;refseq.proteinCoordStr_2=p.V276V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=89837360;refseq.start_2=89837360;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr14 90193328 . T C 257.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=4.48;MQ=98.79;MQ0=0;OQ=2555.80;QD=16.49;RankSumP=0.262148;SB=-1276.70;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1284A>G;refseq.codonCoord=428;refseq.end=90193328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1406;refseq.name=NM_001010854;refseq.name2=TTC7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P428P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=48;refseq.start=90193328;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr14 90231615 . C T 249.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=98.44;MQ0=0;OQ=4354.13;QD=20.07;RankSumP=0.174701;SB=-1409.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.759G>A;refseq.codonCoord=253;refseq.end=90231615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_001010854;refseq.name2=TTC7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T253T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-19;refseq.start=90231615;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr14 90706148 . C T 239.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.41;MQ0=0;OQ=8298.05;QD=38.42;RankSumP=1.00000;SB=-4097.45;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.306C>T;refseq.codingCoordStr_2=c.306C>T;refseq.codingCoordStr_3=c.306C>T;refseq.codingCoordStr_4=c.306C>T;refseq.codingCoordStr_5=c.306C>T;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.codonCoord_3=102;refseq.codonCoord_4=102;refseq.codonCoord_5=102;refseq.end_1=90706148;refseq.end_2=90706148;refseq.end_3=90706148;refseq.end_4=90706148;refseq.end_5=90706148;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1074;refseq.mrnaCoord_2=840;refseq.mrnaCoord_3=658;refseq.mrnaCoord_4=829;refseq.mrnaCoord_5=903;refseq.name2_1=C14orf159;refseq.name2_2=C14orf159;refseq.name2_3=C14orf159;refseq.name2_4=C14orf159;refseq.name2_5=C14orf159;refseq.name_1=NM_001102366;refseq.name_2=NM_001102367;refseq.name_3=NM_001102368;refseq.name_4=NM_001102369;refseq.name_5=NM_024952;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G102G;refseq.proteinCoordStr_2=p.G102G;refseq.proteinCoordStr_3=p.G102G;refseq.proteinCoordStr_4=p.G102G;refseq.proteinCoordStr_5=p.G102G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.spliceDist_4=49;refseq.spliceDist_5=49;refseq.start_1=90706148;refseq.start_2=90706148;refseq.start_3=90706148;refseq.start_4=90706148;refseq.start_5=90706148;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=Intersection GT 1/1 chr14 90706285 . C T 241.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.49;MQ0=0;OQ=1530.58;QD=41.37;RankSumP=1.00000;SB=-427.04;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.441+2;refseq.codingCoordStr_2=c.441+2;refseq.codingCoordStr_3=c.443C>T;refseq.codingCoordStr_4=c.441+2;refseq.codingCoordStr_5=c.441+2;refseq.codonCoord_3=148;refseq.end_1=90706285;refseq.end_2=90706285;refseq.end_3=90706285;refseq.end_4=90706285;refseq.end_5=90706285;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.mrnaCoord_3=795;refseq.name2_1=C14orf159;refseq.name2_2=C14orf159;refseq.name2_3=C14orf159;refseq.name2_4=C14orf159;refseq.name2_5=C14orf159;refseq.name_1=NM_001102366;refseq.name_2=NM_001102367;refseq.name_3=NM_001102368;refseq.name_4=NM_001102369;refseq.name_5=NM_024952;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.proteinCoordStr_3=p.A148V;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=-14;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.spliceInfo_5=splice-donor_2;refseq.start_1=90706285;refseq.start_2=90706285;refseq.start_3=90706285;refseq.start_4=90706285;refseq.start_5=90706285;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr14 90751641 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=19.66;MQ=98.75;MQ0=0;OQ=4988.73;QD=14.98;RankSumP=0.495930;SB=-1828.69;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1689G>A;refseq.codingCoordStr_2=c.1689G>A;refseq.codingCoordStr_3=c.1704G>A;refseq.codingCoordStr_4=c.1533G>A;refseq.codingCoordStr_5=c.1689G>A;refseq.codonCoord_1=563;refseq.codonCoord_2=563;refseq.codonCoord_3=568;refseq.codonCoord_4=511;refseq.codonCoord_5=563;refseq.end_1=90751641;refseq.end_2=90751641;refseq.end_3=90751641;refseq.end_4=90751641;refseq.end_5=90751641;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2457;refseq.mrnaCoord_2=2223;refseq.mrnaCoord_3=2056;refseq.mrnaCoord_4=2056;refseq.mrnaCoord_5=2286;refseq.name2_1=C14orf159;refseq.name2_2=C14orf159;refseq.name2_3=C14orf159;refseq.name2_4=C14orf159;refseq.name2_5=C14orf159;refseq.name_1=NM_001102366;refseq.name_2=NM_001102367;refseq.name_3=NM_001102368;refseq.name_4=NM_001102369;refseq.name_5=NM_024952;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P563P;refseq.proteinCoordStr_2=p.P563P;refseq.proteinCoordStr_3=p.P568P;refseq.proteinCoordStr_4=p.P511P;refseq.proteinCoordStr_5=p.P563P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.spliceDist_5=-13;refseq.start_1=90751641;refseq.start_2=90751641;refseq.start_3=90751641;refseq.start_4=90751641;refseq.start_5=90751641;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=Intersection GT 1/0 chr14 91153757 . C G 104.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6669.89;QD=50.53;RankSumP=1.00000;SB=-2031.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2337G>C;refseq.codonCoord=779;refseq.end=91153757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2477;refseq.name=NM_024764;refseq.name2=CATSPERB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V779V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-64;refseq.start=91153757;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr14 91157769 . G A 148.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=6.89;MQ=98.40;MQ0=0;OQ=14535.34;QD=43.39;RankSumP=1.00000;SB=-6812.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2196C>T;refseq.codonCoord=732;refseq.end=91157769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2336;refseq.name=NM_024764;refseq.name2=CATSPERB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I732I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-65;refseq.start=91157769;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr14 91338368 . T G 235.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=11.21;MQ=98.58;MQ0=0;OQ=15604.09;QD=36.72;RankSumP=1.00000;SB=-6385.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.452A>C;refseq.codingCoordStr_2=c.452A>C;refseq.codingCoordStr_3=c.452A>C;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.end_1=91338368;refseq.end_2=91338368;refseq.end_3=91338368;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=643;refseq.mrnaCoord_2=783;refseq.mrnaCoord_3=831;refseq.name2_1=TC2N;refseq.name2_2=TC2N;refseq.name2_3=TC2N;refseq.name_1=NM_001128595;refseq.name_2=NM_001128596;refseq.name_3=NM_152332;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K151T;refseq.proteinCoordStr_2=p.K151T;refseq.proteinCoordStr_3=p.K151T;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=91338368;refseq.start_2=91338368;refseq.start_3=91338368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr14 91417433 . A G 192.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=13.46;MQ=98.40;MQ0=0;OQ=8588.99;QD=35.79;RankSumP=1.00000;SB=-3143.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.945T>C;refseq.codonCoord=315;refseq.end=91417433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1418;refseq.name=NM_006329;refseq.name2=FBLN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I315I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-45;refseq.start=91417433;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr14 91607132 . T C 1116.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=93.17;MQ0=0;QD=19.26;RankSumP=0.0181137;SB=-71.35;SecondBestBaseQ=33;refseq.changesAA_20=false;refseq.changesAA_21=false;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.changesAA_24=true;refseq.changesAA_25=true;refseq.changesAA_26=false;refseq.changesAA_27=false;refseq.changesAA_28=false;refseq.changesAA_29=true;refseq.changesAA_30=false;refseq.changesAA_31=false;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_12=chr14;refseq.chr_13=chr14;refseq.chr_14=chr14;refseq.chr_15=chr14;refseq.chr_16=chr14;refseq.chr_17=chr14;refseq.chr_18=chr14;refseq.chr_19=chr14;refseq.chr_2=chr14;refseq.chr_20=chr14;refseq.chr_21=chr14;refseq.chr_22=chr14;refseq.chr_23=chr14;refseq.chr_24=chr14;refseq.chr_25=chr14;refseq.chr_26=chr14;refseq.chr_27=chr14;refseq.chr_28=chr14;refseq.chr_29=chr14;refseq.chr_3=chr14;refseq.chr_30=chr14;refseq.chr_31=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_20=c.846A>G;refseq.codingCoordStr_21=c.738A>G;refseq.codingCoordStr_22=c.208A>G;refseq.codingCoordStr_23=c.253A>G;refseq.codingCoordStr_24=c.88A>G;refseq.codingCoordStr_25=c.406A>G;refseq.codingCoordStr_26=c.528A>G;refseq.codingCoordStr_27=c.354A>G;refseq.codingCoordStr_28=c.681A>G;refseq.codingCoordStr_29=c.43A>G;refseq.codingCoordStr_30=c.891A>G;refseq.codingCoordStr_31=c.726A>G;refseq.codonCoord_20=282;refseq.codonCoord_21=246;refseq.codonCoord_22=70;refseq.codonCoord_23=85;refseq.codonCoord_24=30;refseq.codonCoord_25=136;refseq.codonCoord_26=176;refseq.codonCoord_27=118;refseq.codonCoord_28=227;refseq.codonCoord_29=15;refseq.codonCoord_30=297;refseq.codonCoord_31=242;refseq.end_1=91607132;refseq.end_10=91607132;refseq.end_11=91607132;refseq.end_12=91607132;refseq.end_13=91607132;refseq.end_14=91607132;refseq.end_15=91607132;refseq.end_16=91607132;refseq.end_17=91607132;refseq.end_18=91607132;refseq.end_19=91607132;refseq.end_2=91607132;refseq.end_20=91607132;refseq.end_21=91607132;refseq.end_22=91607132;refseq.end_23=91607132;refseq.end_24=91607132;refseq.end_25=91607132;refseq.end_26=91607132;refseq.end_27=91607132;refseq.end_28=91607132;refseq.end_29=91607132;refseq.end_3=91607132;refseq.end_30=91607132;refseq.end_31=91607132;refseq.end_4=91607132;refseq.end_5=91607132;refseq.end_6=91607132;refseq.end_7=91607132;refseq.end_8=91607132;refseq.end_9=91607132;refseq.frame_20=2;refseq.frame_21=2;refseq.frame_22=0;refseq.frame_23=0;refseq.frame_24=0;refseq.frame_25=0;refseq.frame_26=2;refseq.frame_27=2;refseq.frame_28=2;refseq.frame_29=0;refseq.frame_30=2;refseq.frame_31=2;refseq.functionalClass_20=silent;refseq.functionalClass_21=silent;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.functionalClass_24=missense;refseq.functionalClass_25=missense;refseq.functionalClass_26=silent;refseq.functionalClass_27=silent;refseq.functionalClass_28=silent;refseq.functionalClass_29=missense;refseq.functionalClass_30=silent;refseq.functionalClass_31=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_10=*;refseq.haplotypeAlternate_11=*;refseq.haplotypeAlternate_12=*;refseq.haplotypeAlternate_13=*;refseq.haplotypeAlternate_14=*;refseq.haplotypeAlternate_15=*;refseq.haplotypeAlternate_16=*;refseq.haplotypeAlternate_17=*;refseq.haplotypeAlternate_18=*;refseq.haplotypeAlternate_19=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_20=C;refseq.haplotypeAlternate_21=C;refseq.haplotypeAlternate_22=C;refseq.haplotypeAlternate_23=C;refseq.haplotypeAlternate_24=C;refseq.haplotypeAlternate_25=C;refseq.haplotypeAlternate_26=C;refseq.haplotypeAlternate_27=C;refseq.haplotypeAlternate_28=C;refseq.haplotypeAlternate_29=C;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_30=C;refseq.haplotypeAlternate_31=C;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=*;refseq.haplotypeAlternate_6=*;refseq.haplotypeAlternate_7=*;refseq.haplotypeAlternate_8=*;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=T;refseq.haplotypeReference_21=T;refseq.haplotypeReference_22=T;refseq.haplotypeReference_23=T;refseq.haplotypeReference_24=T;refseq.haplotypeReference_25=T;refseq.haplotypeReference_26=T;refseq.haplotypeReference_27=T;refseq.haplotypeReference_28=T;refseq.haplotypeReference_29=T;refseq.haplotypeReference_3=*;refseq.haplotypeReference_30=T;refseq.haplotypeReference_31=T;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_20=true;refseq.inCodingRegion_21=true;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_24=true;refseq.inCodingRegion_25=true;refseq.inCodingRegion_26=true;refseq.inCodingRegion_27=true;refseq.inCodingRegion_28=true;refseq.inCodingRegion_29=true;refseq.inCodingRegion_30=true;refseq.inCodingRegion_31=true;refseq.mrnaCoord_1=874;refseq.mrnaCoord_10=851;refseq.mrnaCoord_11=563;refseq.mrnaCoord_12=861;refseq.mrnaCoord_13=883;refseq.mrnaCoord_14=509;refseq.mrnaCoord_15=875;refseq.mrnaCoord_16=707;refseq.mrnaCoord_17=721;refseq.mrnaCoord_18=179;refseq.mrnaCoord_19=376;refseq.mrnaCoord_2=709;refseq.mrnaCoord_20=915;refseq.mrnaCoord_21=807;refseq.mrnaCoord_22=277;refseq.mrnaCoord_23=322;refseq.mrnaCoord_24=157;refseq.mrnaCoord_25=475;refseq.mrnaCoord_26=597;refseq.mrnaCoord_27=664;refseq.mrnaCoord_28=750;refseq.mrnaCoord_29=112;refseq.mrnaCoord_3=928;refseq.mrnaCoord_30=960;refseq.mrnaCoord_31=795;refseq.mrnaCoord_4=763;refseq.mrnaCoord_5=1019;refseq.mrnaCoord_6=863;refseq.mrnaCoord_7=1014;refseq.mrnaCoord_8=389;refseq.mrnaCoord_9=872;refseq.name2_1=ATXN3;refseq.name2_10=ATXN3;refseq.name2_11=ATXN3;refseq.name2_12=ATXN3;refseq.name2_13=ATXN3;refseq.name2_14=ATXN3;refseq.name2_15=ATXN3;refseq.name2_16=ATXN3;refseq.name2_17=ATXN3;refseq.name2_18=ATXN3;refseq.name2_19=ATXN3;refseq.name2_2=ATXN3;refseq.name2_20=ATXN3;refseq.name2_21=ATXN3;refseq.name2_22=ATXN3;refseq.name2_23=ATXN3;refseq.name2_24=ATXN3;refseq.name2_25=ATXN3;refseq.name2_26=ATXN3;refseq.name2_27=ATXN3;refseq.name2_28=ATXN3;refseq.name2_29=ATXN3;refseq.name2_3=ATXN3;refseq.name2_30=ATXN3;refseq.name2_31=ATXN3;refseq.name2_4=ATXN3;refseq.name2_5=ATXN3;refseq.name2_6=ATXN3;refseq.name2_7=ATXN3;refseq.name2_8=ATXN3;refseq.name2_9=ATXN3;refseq.name_1=NR_028453;refseq.name_10=NR_028462;refseq.name_11=NR_028463;refseq.name_12=NR_028464;refseq.name_13=NR_028465;refseq.name_14=NR_028466;refseq.name_15=NR_028467;refseq.name_16=NR_028468;refseq.name_17=NR_028469;refseq.name_18=NR_028470;refseq.name_19=NR_031765;refseq.name_2=NR_028454;refseq.name_20=NM_001127696;refseq.name_21=NM_001127697;refseq.name_22=NM_001164774;refseq.name_23=NM_001164776;refseq.name_24=NM_001164777;refseq.name_25=NM_001164778;refseq.name_26=NM_001164779;refseq.name_27=NM_001164780;refseq.name_28=NM_001164781;refseq.name_29=NM_001164782;refseq.name_3=NR_028455;refseq.name_30=NM_004993;refseq.name_31=NM_030660;refseq.name_4=NR_028456;refseq.name_5=NR_028457;refseq.name_6=NR_028458;refseq.name_7=NR_028459;refseq.name_8=NR_028460;refseq.name_9=NR_028461;refseq.numMatchingRecords=31;refseq.positionType_1=non_coding_exon;refseq.positionType_10=non_coding_exon;refseq.positionType_11=non_coding_exon;refseq.positionType_12=non_coding_exon;refseq.positionType_13=non_coding_exon;refseq.positionType_14=non_coding_exon;refseq.positionType_15=non_coding_exon;refseq.positionType_16=non_coding_exon;refseq.positionType_17=non_coding_exon;refseq.positionType_18=non_coding_exon;refseq.positionType_19=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_20=CDS;refseq.positionType_21=CDS;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_24=CDS;refseq.positionType_25=CDS;refseq.positionType_26=CDS;refseq.positionType_27=CDS;refseq.positionType_28=CDS;refseq.positionType_29=CDS;refseq.positionType_3=non_coding_exon;refseq.positionType_30=CDS;refseq.positionType_31=CDS;refseq.positionType_4=non_coding_exon;refseq.positionType_5=non_coding_exon;refseq.positionType_6=non_coding_exon;refseq.positionType_7=non_coding_exon;refseq.positionType_8=non_coding_exon;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_20=p.Q282Q;refseq.proteinCoordStr_21=p.Q246Q;refseq.proteinCoordStr_22=p.T70A;refseq.proteinCoordStr_23=p.T85A;refseq.proteinCoordStr_24=p.T30A;refseq.proteinCoordStr_25=p.T136A;refseq.proteinCoordStr_26=p.Q176Q;refseq.proteinCoordStr_27=p.Q118Q;refseq.proteinCoordStr_28=p.Q227Q;refseq.proteinCoordStr_29=p.T15A;refseq.proteinCoordStr_30=p.Q297Q;refseq.proteinCoordStr_31=p.Q242Q;refseq.referenceAA_20=Gln;refseq.referenceAA_21=Gln;refseq.referenceAA_22=Thr;refseq.referenceAA_23=Thr;refseq.referenceAA_24=Thr;refseq.referenceAA_25=Thr;refseq.referenceAA_26=Gln;refseq.referenceAA_27=Gln;refseq.referenceAA_28=Gln;refseq.referenceAA_29=Thr;refseq.referenceAA_30=Gln;refseq.referenceAA_31=Gln;refseq.referenceCodon_20=CAA;refseq.referenceCodon_21=CAA;refseq.referenceCodon_22=ACA;refseq.referenceCodon_23=ACA;refseq.referenceCodon_24=ACA;refseq.referenceCodon_25=ACA;refseq.referenceCodon_26=CAA;refseq.referenceCodon_27=CAA;refseq.referenceCodon_28=CAA;refseq.referenceCodon_29=ACA;refseq.referenceCodon_30=CAA;refseq.referenceCodon_31=CAA;refseq.spliceDist_1=19;refseq.spliceDist_10=19;refseq.spliceDist_11=19;refseq.spliceDist_12=19;refseq.spliceDist_13=19;refseq.spliceDist_14=19;refseq.spliceDist_15=19;refseq.spliceDist_16=19;refseq.spliceDist_17=19;refseq.spliceDist_18=19;refseq.spliceDist_19=19;refseq.spliceDist_2=19;refseq.spliceDist_20=19;refseq.spliceDist_21=19;refseq.spliceDist_22=19;refseq.spliceDist_23=19;refseq.spliceDist_24=19;refseq.spliceDist_25=19;refseq.spliceDist_26=19;refseq.spliceDist_27=19;refseq.spliceDist_28=19;refseq.spliceDist_29=19;refseq.spliceDist_3=19;refseq.spliceDist_30=19;refseq.spliceDist_31=19;refseq.spliceDist_4=19;refseq.spliceDist_5=19;refseq.spliceDist_6=19;refseq.spliceDist_7=19;refseq.spliceDist_8=19;refseq.spliceDist_9=19;refseq.start_1=91607132;refseq.start_10=91607132;refseq.start_11=91607132;refseq.start_12=91607132;refseq.start_13=91607132;refseq.start_14=91607132;refseq.start_15=91607132;refseq.start_16=91607132;refseq.start_17=91607132;refseq.start_18=91607132;refseq.start_19=91607132;refseq.start_2=91607132;refseq.start_20=91607132;refseq.start_21=91607132;refseq.start_22=91607132;refseq.start_23=91607132;refseq.start_24=91607132;refseq.start_25=91607132;refseq.start_26=91607132;refseq.start_27=91607132;refseq.start_28=91607132;refseq.start_29=91607132;refseq.start_3=91607132;refseq.start_30=91607132;refseq.start_31=91607132;refseq.start_4=91607132;refseq.start_5=91607132;refseq.start_6=91607132;refseq.start_7=91607132;refseq.start_8=91607132;refseq.start_9=91607132;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_19=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_20=-;refseq.transcriptStrand_21=-;refseq.transcriptStrand_22=-;refseq.transcriptStrand_23=-;refseq.transcriptStrand_24=-;refseq.transcriptStrand_25=-;refseq.transcriptStrand_26=-;refseq.transcriptStrand_27=-;refseq.transcriptStrand_28=-;refseq.transcriptStrand_29=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_30=-;refseq.transcriptStrand_31=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_20=Gln;refseq.variantAA_21=Gln;refseq.variantAA_22=Ala;refseq.variantAA_23=Ala;refseq.variantAA_24=Ala;refseq.variantAA_25=Ala;refseq.variantAA_26=Gln;refseq.variantAA_27=Gln;refseq.variantAA_28=Gln;refseq.variantAA_29=Ala;refseq.variantAA_30=Gln;refseq.variantAA_31=Gln;refseq.variantCodon_20=CAG;refseq.variantCodon_21=CAG;refseq.variantCodon_22=GCA;refseq.variantCodon_23=GCA;refseq.variantCodon_24=GCA;refseq.variantCodon_25=GCA;refseq.variantCodon_26=CAG;refseq.variantCodon_27=CAG;refseq.variantCodon_28=CAG;refseq.variantCodon_29=GCA;refseq.variantCodon_30=CAG;refseq.variantCodon_31=CAG;set=soap-filterIngatk GT 1/0 chr14 91607140 . T G 483.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=91.79;MQ0=0;QD=12.73;RankSumP=0.285679;SB=-40.00;SecondBestBaseQ=29;refseq.changesAA_20=true;refseq.changesAA_21=true;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.changesAA_24=true;refseq.changesAA_25=true;refseq.changesAA_26=true;refseq.changesAA_27=true;refseq.changesAA_28=true;refseq.changesAA_29=true;refseq.changesAA_30=true;refseq.changesAA_31=true;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_12=chr14;refseq.chr_13=chr14;refseq.chr_14=chr14;refseq.chr_15=chr14;refseq.chr_16=chr14;refseq.chr_17=chr14;refseq.chr_18=chr14;refseq.chr_19=chr14;refseq.chr_2=chr14;refseq.chr_20=chr14;refseq.chr_21=chr14;refseq.chr_22=chr14;refseq.chr_23=chr14;refseq.chr_24=chr14;refseq.chr_25=chr14;refseq.chr_26=chr14;refseq.chr_27=chr14;refseq.chr_28=chr14;refseq.chr_29=chr14;refseq.chr_3=chr14;refseq.chr_30=chr14;refseq.chr_31=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_20=c.838A>C;refseq.codingCoordStr_21=c.730A>C;refseq.codingCoordStr_22=c.200A>C;refseq.codingCoordStr_23=c.245A>C;refseq.codingCoordStr_24=c.80A>C;refseq.codingCoordStr_25=c.398A>C;refseq.codingCoordStr_26=c.520A>C;refseq.codingCoordStr_27=c.346A>C;refseq.codingCoordStr_28=c.673A>C;refseq.codingCoordStr_29=c.35A>C;refseq.codingCoordStr_30=c.883A>C;refseq.codingCoordStr_31=c.718A>C;refseq.codonCoord_20=280;refseq.codonCoord_21=244;refseq.codonCoord_22=67;refseq.codonCoord_23=82;refseq.codonCoord_24=27;refseq.codonCoord_25=133;refseq.codonCoord_26=174;refseq.codonCoord_27=116;refseq.codonCoord_28=225;refseq.codonCoord_29=12;refseq.codonCoord_30=295;refseq.codonCoord_31=240;refseq.end_1=91607140;refseq.end_10=91607140;refseq.end_11=91607140;refseq.end_12=91607140;refseq.end_13=91607140;refseq.end_14=91607140;refseq.end_15=91607140;refseq.end_16=91607140;refseq.end_17=91607140;refseq.end_18=91607140;refseq.end_19=91607140;refseq.end_2=91607140;refseq.end_20=91607140;refseq.end_21=91607140;refseq.end_22=91607140;refseq.end_23=91607140;refseq.end_24=91607140;refseq.end_25=91607140;refseq.end_26=91607140;refseq.end_27=91607140;refseq.end_28=91607140;refseq.end_29=91607140;refseq.end_3=91607140;refseq.end_30=91607140;refseq.end_31=91607140;refseq.end_4=91607140;refseq.end_5=91607140;refseq.end_6=91607140;refseq.end_7=91607140;refseq.end_8=91607140;refseq.end_9=91607140;refseq.frame_20=0;refseq.frame_21=0;refseq.frame_22=1;refseq.frame_23=1;refseq.frame_24=1;refseq.frame_25=1;refseq.frame_26=0;refseq.frame_27=0;refseq.frame_28=0;refseq.frame_29=1;refseq.frame_30=0;refseq.frame_31=0;refseq.functionalClass_20=missense;refseq.functionalClass_21=missense;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.functionalClass_24=missense;refseq.functionalClass_25=missense;refseq.functionalClass_26=missense;refseq.functionalClass_27=missense;refseq.functionalClass_28=missense;refseq.functionalClass_29=missense;refseq.functionalClass_30=missense;refseq.functionalClass_31=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_10=*;refseq.haplotypeAlternate_11=*;refseq.haplotypeAlternate_12=*;refseq.haplotypeAlternate_13=*;refseq.haplotypeAlternate_14=*;refseq.haplotypeAlternate_15=*;refseq.haplotypeAlternate_16=*;refseq.haplotypeAlternate_17=*;refseq.haplotypeAlternate_18=*;refseq.haplotypeAlternate_19=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_20=G;refseq.haplotypeAlternate_21=G;refseq.haplotypeAlternate_22=G;refseq.haplotypeAlternate_23=G;refseq.haplotypeAlternate_24=G;refseq.haplotypeAlternate_25=G;refseq.haplotypeAlternate_26=G;refseq.haplotypeAlternate_27=G;refseq.haplotypeAlternate_28=G;refseq.haplotypeAlternate_29=G;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_30=G;refseq.haplotypeAlternate_31=G;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=*;refseq.haplotypeAlternate_6=*;refseq.haplotypeAlternate_7=*;refseq.haplotypeAlternate_8=*;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=T;refseq.haplotypeReference_21=T;refseq.haplotypeReference_22=T;refseq.haplotypeReference_23=T;refseq.haplotypeReference_24=T;refseq.haplotypeReference_25=T;refseq.haplotypeReference_26=T;refseq.haplotypeReference_27=T;refseq.haplotypeReference_28=T;refseq.haplotypeReference_29=T;refseq.haplotypeReference_3=*;refseq.haplotypeReference_30=T;refseq.haplotypeReference_31=T;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_20=true;refseq.inCodingRegion_21=true;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_24=true;refseq.inCodingRegion_25=true;refseq.inCodingRegion_26=true;refseq.inCodingRegion_27=true;refseq.inCodingRegion_28=true;refseq.inCodingRegion_29=true;refseq.inCodingRegion_30=true;refseq.inCodingRegion_31=true;refseq.mrnaCoord_1=866;refseq.mrnaCoord_10=843;refseq.mrnaCoord_11=555;refseq.mrnaCoord_12=853;refseq.mrnaCoord_13=875;refseq.mrnaCoord_14=501;refseq.mrnaCoord_15=867;refseq.mrnaCoord_16=699;refseq.mrnaCoord_17=713;refseq.mrnaCoord_18=171;refseq.mrnaCoord_19=368;refseq.mrnaCoord_2=701;refseq.mrnaCoord_20=907;refseq.mrnaCoord_21=799;refseq.mrnaCoord_22=269;refseq.mrnaCoord_23=314;refseq.mrnaCoord_24=149;refseq.mrnaCoord_25=467;refseq.mrnaCoord_26=589;refseq.mrnaCoord_27=656;refseq.mrnaCoord_28=742;refseq.mrnaCoord_29=104;refseq.mrnaCoord_3=920;refseq.mrnaCoord_30=952;refseq.mrnaCoord_31=787;refseq.mrnaCoord_4=755;refseq.mrnaCoord_5=1011;refseq.mrnaCoord_6=855;refseq.mrnaCoord_7=1006;refseq.mrnaCoord_8=381;refseq.mrnaCoord_9=864;refseq.name2_1=ATXN3;refseq.name2_10=ATXN3;refseq.name2_11=ATXN3;refseq.name2_12=ATXN3;refseq.name2_13=ATXN3;refseq.name2_14=ATXN3;refseq.name2_15=ATXN3;refseq.name2_16=ATXN3;refseq.name2_17=ATXN3;refseq.name2_18=ATXN3;refseq.name2_19=ATXN3;refseq.name2_2=ATXN3;refseq.name2_20=ATXN3;refseq.name2_21=ATXN3;refseq.name2_22=ATXN3;refseq.name2_23=ATXN3;refseq.name2_24=ATXN3;refseq.name2_25=ATXN3;refseq.name2_26=ATXN3;refseq.name2_27=ATXN3;refseq.name2_28=ATXN3;refseq.name2_29=ATXN3;refseq.name2_3=ATXN3;refseq.name2_30=ATXN3;refseq.name2_31=ATXN3;refseq.name2_4=ATXN3;refseq.name2_5=ATXN3;refseq.name2_6=ATXN3;refseq.name2_7=ATXN3;refseq.name2_8=ATXN3;refseq.name2_9=ATXN3;refseq.name_1=NR_028453;refseq.name_10=NR_028462;refseq.name_11=NR_028463;refseq.name_12=NR_028464;refseq.name_13=NR_028465;refseq.name_14=NR_028466;refseq.name_15=NR_028467;refseq.name_16=NR_028468;refseq.name_17=NR_028469;refseq.name_18=NR_028470;refseq.name_19=NR_031765;refseq.name_2=NR_028454;refseq.name_20=NM_001127696;refseq.name_21=NM_001127697;refseq.name_22=NM_001164774;refseq.name_23=NM_001164776;refseq.name_24=NM_001164777;refseq.name_25=NM_001164778;refseq.name_26=NM_001164779;refseq.name_27=NM_001164780;refseq.name_28=NM_001164781;refseq.name_29=NM_001164782;refseq.name_3=NR_028455;refseq.name_30=NM_004993;refseq.name_31=NM_030660;refseq.name_4=NR_028456;refseq.name_5=NR_028457;refseq.name_6=NR_028458;refseq.name_7=NR_028459;refseq.name_8=NR_028460;refseq.name_9=NR_028461;refseq.numMatchingRecords=31;refseq.positionType_1=non_coding_exon;refseq.positionType_10=non_coding_exon;refseq.positionType_11=non_coding_exon;refseq.positionType_12=non_coding_exon;refseq.positionType_13=non_coding_exon;refseq.positionType_14=non_coding_exon;refseq.positionType_15=non_coding_exon;refseq.positionType_16=non_coding_exon;refseq.positionType_17=non_coding_exon;refseq.positionType_18=non_coding_exon;refseq.positionType_19=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_20=CDS;refseq.positionType_21=CDS;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_24=CDS;refseq.positionType_25=CDS;refseq.positionType_26=CDS;refseq.positionType_27=CDS;refseq.positionType_28=CDS;refseq.positionType_29=CDS;refseq.positionType_3=non_coding_exon;refseq.positionType_30=CDS;refseq.positionType_31=CDS;refseq.positionType_4=non_coding_exon;refseq.positionType_5=non_coding_exon;refseq.positionType_6=non_coding_exon;refseq.positionType_7=non_coding_exon;refseq.positionType_8=non_coding_exon;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_20=p.K280Q;refseq.proteinCoordStr_21=p.K244Q;refseq.proteinCoordStr_22=p.K67T;refseq.proteinCoordStr_23=p.K82T;refseq.proteinCoordStr_24=p.K27T;refseq.proteinCoordStr_25=p.K133T;refseq.proteinCoordStr_26=p.K174Q;refseq.proteinCoordStr_27=p.K116Q;refseq.proteinCoordStr_28=p.K225Q;refseq.proteinCoordStr_29=p.K12T;refseq.proteinCoordStr_30=p.K295Q;refseq.proteinCoordStr_31=p.K240Q;refseq.referenceAA_20=Lys;refseq.referenceAA_21=Lys;refseq.referenceAA_22=Lys;refseq.referenceAA_23=Lys;refseq.referenceAA_24=Lys;refseq.referenceAA_25=Lys;refseq.referenceAA_26=Lys;refseq.referenceAA_27=Lys;refseq.referenceAA_28=Lys;refseq.referenceAA_29=Lys;refseq.referenceAA_30=Lys;refseq.referenceAA_31=Lys;refseq.referenceCodon_20=AAG;refseq.referenceCodon_21=AAG;refseq.referenceCodon_22=AAA;refseq.referenceCodon_23=AAA;refseq.referenceCodon_24=AAA;refseq.referenceCodon_25=AAA;refseq.referenceCodon_26=AAG;refseq.referenceCodon_27=AAG;refseq.referenceCodon_28=AAG;refseq.referenceCodon_29=AAA;refseq.referenceCodon_30=AAG;refseq.referenceCodon_31=AAG;refseq.spliceDist_1=11;refseq.spliceDist_10=11;refseq.spliceDist_11=11;refseq.spliceDist_12=11;refseq.spliceDist_13=11;refseq.spliceDist_14=11;refseq.spliceDist_15=11;refseq.spliceDist_16=11;refseq.spliceDist_17=11;refseq.spliceDist_18=11;refseq.spliceDist_19=11;refseq.spliceDist_2=11;refseq.spliceDist_20=11;refseq.spliceDist_21=11;refseq.spliceDist_22=11;refseq.spliceDist_23=11;refseq.spliceDist_24=11;refseq.spliceDist_25=11;refseq.spliceDist_26=11;refseq.spliceDist_27=11;refseq.spliceDist_28=11;refseq.spliceDist_29=11;refseq.spliceDist_3=11;refseq.spliceDist_30=11;refseq.spliceDist_31=11;refseq.spliceDist_4=11;refseq.spliceDist_5=11;refseq.spliceDist_6=11;refseq.spliceDist_7=11;refseq.spliceDist_8=11;refseq.spliceDist_9=11;refseq.start_1=91607140;refseq.start_10=91607140;refseq.start_11=91607140;refseq.start_12=91607140;refseq.start_13=91607140;refseq.start_14=91607140;refseq.start_15=91607140;refseq.start_16=91607140;refseq.start_17=91607140;refseq.start_18=91607140;refseq.start_19=91607140;refseq.start_2=91607140;refseq.start_20=91607140;refseq.start_21=91607140;refseq.start_22=91607140;refseq.start_23=91607140;refseq.start_24=91607140;refseq.start_25=91607140;refseq.start_26=91607140;refseq.start_27=91607140;refseq.start_28=91607140;refseq.start_29=91607140;refseq.start_3=91607140;refseq.start_30=91607140;refseq.start_31=91607140;refseq.start_4=91607140;refseq.start_5=91607140;refseq.start_6=91607140;refseq.start_7=91607140;refseq.start_8=91607140;refseq.start_9=91607140;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_19=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_20=-;refseq.transcriptStrand_21=-;refseq.transcriptStrand_22=-;refseq.transcriptStrand_23=-;refseq.transcriptStrand_24=-;refseq.transcriptStrand_25=-;refseq.transcriptStrand_26=-;refseq.transcriptStrand_27=-;refseq.transcriptStrand_28=-;refseq.transcriptStrand_29=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_30=-;refseq.transcriptStrand_31=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_20=Gln;refseq.variantAA_21=Gln;refseq.variantAA_22=Thr;refseq.variantAA_23=Thr;refseq.variantAA_24=Thr;refseq.variantAA_25=Thr;refseq.variantAA_26=Gln;refseq.variantAA_27=Gln;refseq.variantAA_28=Gln;refseq.variantAA_29=Thr;refseq.variantAA_30=Gln;refseq.variantAA_31=Gln;refseq.variantCodon_20=CAG;refseq.variantCodon_21=CAG;refseq.variantCodon_22=ACA;refseq.variantCodon_23=ACA;refseq.variantCodon_24=ACA;refseq.variantCodon_25=ACA;refseq.variantCodon_26=CAG;refseq.variantCodon_27=CAG;refseq.variantCodon_28=CAG;refseq.variantCodon_29=ACA;refseq.variantCodon_30=CAG;refseq.variantCodon_31=CAG;set=soap-filterIngatk GT 1/0 chr14 91607141 rs12896589 T C 447.36 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=92.03;MQ0=0;QD=11.77;SB=-10.00;refseq.changesAA_20=false;refseq.changesAA_21=false;refseq.changesAA_22=true;refseq.changesAA_23=true;refseq.changesAA_24=true;refseq.changesAA_25=true;refseq.changesAA_26=false;refseq.changesAA_27=false;refseq.changesAA_28=false;refseq.changesAA_29=true;refseq.changesAA_30=false;refseq.changesAA_31=false;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_12=chr14;refseq.chr_13=chr14;refseq.chr_14=chr14;refseq.chr_15=chr14;refseq.chr_16=chr14;refseq.chr_17=chr14;refseq.chr_18=chr14;refseq.chr_19=chr14;refseq.chr_2=chr14;refseq.chr_20=chr14;refseq.chr_21=chr14;refseq.chr_22=chr14;refseq.chr_23=chr14;refseq.chr_24=chr14;refseq.chr_25=chr14;refseq.chr_26=chr14;refseq.chr_27=chr14;refseq.chr_28=chr14;refseq.chr_29=chr14;refseq.chr_3=chr14;refseq.chr_30=chr14;refseq.chr_31=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_20=c.837A>G;refseq.codingCoordStr_21=c.729A>G;refseq.codingCoordStr_22=c.199A>G;refseq.codingCoordStr_23=c.244A>G;refseq.codingCoordStr_24=c.79A>G;refseq.codingCoordStr_25=c.397A>G;refseq.codingCoordStr_26=c.519A>G;refseq.codingCoordStr_27=c.345A>G;refseq.codingCoordStr_28=c.672A>G;refseq.codingCoordStr_29=c.34A>G;refseq.codingCoordStr_30=c.882A>G;refseq.codingCoordStr_31=c.717A>G;refseq.codonCoord_20=279;refseq.codonCoord_21=243;refseq.codonCoord_22=67;refseq.codonCoord_23=82;refseq.codonCoord_24=27;refseq.codonCoord_25=133;refseq.codonCoord_26=173;refseq.codonCoord_27=115;refseq.codonCoord_28=224;refseq.codonCoord_29=12;refseq.codonCoord_30=294;refseq.codonCoord_31=239;refseq.end_1=91607141;refseq.end_10=91607141;refseq.end_11=91607141;refseq.end_12=91607141;refseq.end_13=91607141;refseq.end_14=91607141;refseq.end_15=91607141;refseq.end_16=91607141;refseq.end_17=91607141;refseq.end_18=91607141;refseq.end_19=91607141;refseq.end_2=91607141;refseq.end_20=91607141;refseq.end_21=91607141;refseq.end_22=91607141;refseq.end_23=91607141;refseq.end_24=91607141;refseq.end_25=91607141;refseq.end_26=91607141;refseq.end_27=91607141;refseq.end_28=91607141;refseq.end_29=91607141;refseq.end_3=91607141;refseq.end_30=91607141;refseq.end_31=91607141;refseq.end_4=91607141;refseq.end_5=91607141;refseq.end_6=91607141;refseq.end_7=91607141;refseq.end_8=91607141;refseq.end_9=91607141;refseq.frame_20=2;refseq.frame_21=2;refseq.frame_22=0;refseq.frame_23=0;refseq.frame_24=0;refseq.frame_25=0;refseq.frame_26=2;refseq.frame_27=2;refseq.frame_28=2;refseq.frame_29=0;refseq.frame_30=2;refseq.frame_31=2;refseq.functionalClass_20=silent;refseq.functionalClass_21=silent;refseq.functionalClass_22=missense;refseq.functionalClass_23=missense;refseq.functionalClass_24=missense;refseq.functionalClass_25=missense;refseq.functionalClass_26=silent;refseq.functionalClass_27=silent;refseq.functionalClass_28=silent;refseq.functionalClass_29=missense;refseq.functionalClass_30=silent;refseq.functionalClass_31=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_10=*;refseq.haplotypeAlternate_11=*;refseq.haplotypeAlternate_12=*;refseq.haplotypeAlternate_13=*;refseq.haplotypeAlternate_14=*;refseq.haplotypeAlternate_15=*;refseq.haplotypeAlternate_16=*;refseq.haplotypeAlternate_17=*;refseq.haplotypeAlternate_18=*;refseq.haplotypeAlternate_19=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_20=C;refseq.haplotypeAlternate_21=C;refseq.haplotypeAlternate_22=C;refseq.haplotypeAlternate_23=C;refseq.haplotypeAlternate_24=C;refseq.haplotypeAlternate_25=C;refseq.haplotypeAlternate_26=C;refseq.haplotypeAlternate_27=C;refseq.haplotypeAlternate_28=C;refseq.haplotypeAlternate_29=C;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_30=C;refseq.haplotypeAlternate_31=C;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=*;refseq.haplotypeAlternate_6=*;refseq.haplotypeAlternate_7=*;refseq.haplotypeAlternate_8=*;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=T;refseq.haplotypeReference_21=T;refseq.haplotypeReference_22=T;refseq.haplotypeReference_23=T;refseq.haplotypeReference_24=T;refseq.haplotypeReference_25=T;refseq.haplotypeReference_26=T;refseq.haplotypeReference_27=T;refseq.haplotypeReference_28=T;refseq.haplotypeReference_29=T;refseq.haplotypeReference_3=*;refseq.haplotypeReference_30=T;refseq.haplotypeReference_31=T;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_20=true;refseq.inCodingRegion_21=true;refseq.inCodingRegion_22=true;refseq.inCodingRegion_23=true;refseq.inCodingRegion_24=true;refseq.inCodingRegion_25=true;refseq.inCodingRegion_26=true;refseq.inCodingRegion_27=true;refseq.inCodingRegion_28=true;refseq.inCodingRegion_29=true;refseq.inCodingRegion_30=true;refseq.inCodingRegion_31=true;refseq.mrnaCoord_1=865;refseq.mrnaCoord_10=842;refseq.mrnaCoord_11=554;refseq.mrnaCoord_12=852;refseq.mrnaCoord_13=874;refseq.mrnaCoord_14=500;refseq.mrnaCoord_15=866;refseq.mrnaCoord_16=698;refseq.mrnaCoord_17=712;refseq.mrnaCoord_18=170;refseq.mrnaCoord_19=367;refseq.mrnaCoord_2=700;refseq.mrnaCoord_20=906;refseq.mrnaCoord_21=798;refseq.mrnaCoord_22=268;refseq.mrnaCoord_23=313;refseq.mrnaCoord_24=148;refseq.mrnaCoord_25=466;refseq.mrnaCoord_26=588;refseq.mrnaCoord_27=655;refseq.mrnaCoord_28=741;refseq.mrnaCoord_29=103;refseq.mrnaCoord_3=919;refseq.mrnaCoord_30=951;refseq.mrnaCoord_31=786;refseq.mrnaCoord_4=754;refseq.mrnaCoord_5=1010;refseq.mrnaCoord_6=854;refseq.mrnaCoord_7=1005;refseq.mrnaCoord_8=380;refseq.mrnaCoord_9=863;refseq.name2_1=ATXN3;refseq.name2_10=ATXN3;refseq.name2_11=ATXN3;refseq.name2_12=ATXN3;refseq.name2_13=ATXN3;refseq.name2_14=ATXN3;refseq.name2_15=ATXN3;refseq.name2_16=ATXN3;refseq.name2_17=ATXN3;refseq.name2_18=ATXN3;refseq.name2_19=ATXN3;refseq.name2_2=ATXN3;refseq.name2_20=ATXN3;refseq.name2_21=ATXN3;refseq.name2_22=ATXN3;refseq.name2_23=ATXN3;refseq.name2_24=ATXN3;refseq.name2_25=ATXN3;refseq.name2_26=ATXN3;refseq.name2_27=ATXN3;refseq.name2_28=ATXN3;refseq.name2_29=ATXN3;refseq.name2_3=ATXN3;refseq.name2_30=ATXN3;refseq.name2_31=ATXN3;refseq.name2_4=ATXN3;refseq.name2_5=ATXN3;refseq.name2_6=ATXN3;refseq.name2_7=ATXN3;refseq.name2_8=ATXN3;refseq.name2_9=ATXN3;refseq.name_1=NR_028453;refseq.name_10=NR_028462;refseq.name_11=NR_028463;refseq.name_12=NR_028464;refseq.name_13=NR_028465;refseq.name_14=NR_028466;refseq.name_15=NR_028467;refseq.name_16=NR_028468;refseq.name_17=NR_028469;refseq.name_18=NR_028470;refseq.name_19=NR_031765;refseq.name_2=NR_028454;refseq.name_20=NM_001127696;refseq.name_21=NM_001127697;refseq.name_22=NM_001164774;refseq.name_23=NM_001164776;refseq.name_24=NM_001164777;refseq.name_25=NM_001164778;refseq.name_26=NM_001164779;refseq.name_27=NM_001164780;refseq.name_28=NM_001164781;refseq.name_29=NM_001164782;refseq.name_3=NR_028455;refseq.name_30=NM_004993;refseq.name_31=NM_030660;refseq.name_4=NR_028456;refseq.name_5=NR_028457;refseq.name_6=NR_028458;refseq.name_7=NR_028459;refseq.name_8=NR_028460;refseq.name_9=NR_028461;refseq.numMatchingRecords=31;refseq.positionType_1=non_coding_exon;refseq.positionType_10=non_coding_exon;refseq.positionType_11=non_coding_exon;refseq.positionType_12=non_coding_exon;refseq.positionType_13=non_coding_exon;refseq.positionType_14=non_coding_exon;refseq.positionType_15=non_coding_exon;refseq.positionType_16=non_coding_exon;refseq.positionType_17=non_coding_exon;refseq.positionType_18=non_coding_exon;refseq.positionType_19=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_20=CDS;refseq.positionType_21=CDS;refseq.positionType_22=CDS;refseq.positionType_23=CDS;refseq.positionType_24=CDS;refseq.positionType_25=CDS;refseq.positionType_26=CDS;refseq.positionType_27=CDS;refseq.positionType_28=CDS;refseq.positionType_29=CDS;refseq.positionType_3=non_coding_exon;refseq.positionType_30=CDS;refseq.positionType_31=CDS;refseq.positionType_4=non_coding_exon;refseq.positionType_5=non_coding_exon;refseq.positionType_6=non_coding_exon;refseq.positionType_7=non_coding_exon;refseq.positionType_8=non_coding_exon;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_20=p.Q279Q;refseq.proteinCoordStr_21=p.Q243Q;refseq.proteinCoordStr_22=p.K67E;refseq.proteinCoordStr_23=p.K82E;refseq.proteinCoordStr_24=p.K27E;refseq.proteinCoordStr_25=p.K133E;refseq.proteinCoordStr_26=p.Q173Q;refseq.proteinCoordStr_27=p.Q115Q;refseq.proteinCoordStr_28=p.Q224Q;refseq.proteinCoordStr_29=p.K12E;refseq.proteinCoordStr_30=p.Q294Q;refseq.proteinCoordStr_31=p.Q239Q;refseq.referenceAA_20=Gln;refseq.referenceAA_21=Gln;refseq.referenceAA_22=Lys;refseq.referenceAA_23=Lys;refseq.referenceAA_24=Lys;refseq.referenceAA_25=Lys;refseq.referenceAA_26=Gln;refseq.referenceAA_27=Gln;refseq.referenceAA_28=Gln;refseq.referenceAA_29=Lys;refseq.referenceAA_30=Gln;refseq.referenceAA_31=Gln;refseq.referenceCodon_20=CAA;refseq.referenceCodon_21=CAA;refseq.referenceCodon_22=AAA;refseq.referenceCodon_23=AAA;refseq.referenceCodon_24=AAA;refseq.referenceCodon_25=AAA;refseq.referenceCodon_26=CAA;refseq.referenceCodon_27=CAA;refseq.referenceCodon_28=CAA;refseq.referenceCodon_29=AAA;refseq.referenceCodon_30=CAA;refseq.referenceCodon_31=CAA;refseq.spliceDist_1=10;refseq.spliceDist_10=10;refseq.spliceDist_11=10;refseq.spliceDist_12=10;refseq.spliceDist_13=10;refseq.spliceDist_14=10;refseq.spliceDist_15=10;refseq.spliceDist_16=10;refseq.spliceDist_17=10;refseq.spliceDist_18=10;refseq.spliceDist_19=10;refseq.spliceDist_2=10;refseq.spliceDist_20=10;refseq.spliceDist_21=10;refseq.spliceDist_22=10;refseq.spliceDist_23=10;refseq.spliceDist_24=10;refseq.spliceDist_25=10;refseq.spliceDist_26=10;refseq.spliceDist_27=10;refseq.spliceDist_28=10;refseq.spliceDist_29=10;refseq.spliceDist_3=10;refseq.spliceDist_30=10;refseq.spliceDist_31=10;refseq.spliceDist_4=10;refseq.spliceDist_5=10;refseq.spliceDist_6=10;refseq.spliceDist_7=10;refseq.spliceDist_8=10;refseq.spliceDist_9=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_10=splice-acceptor_10;refseq.spliceInfo_11=splice-acceptor_10;refseq.spliceInfo_12=splice-acceptor_10;refseq.spliceInfo_13=splice-acceptor_10;refseq.spliceInfo_14=splice-acceptor_10;refseq.spliceInfo_15=splice-acceptor_10;refseq.spliceInfo_16=splice-acceptor_10;refseq.spliceInfo_17=splice-acceptor_10;refseq.spliceInfo_18=splice-acceptor_10;refseq.spliceInfo_19=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_20=splice-acceptor_10;refseq.spliceInfo_21=splice-acceptor_10;refseq.spliceInfo_22=splice-acceptor_10;refseq.spliceInfo_23=splice-acceptor_10;refseq.spliceInfo_24=splice-acceptor_10;refseq.spliceInfo_25=splice-acceptor_10;refseq.spliceInfo_26=splice-acceptor_10;refseq.spliceInfo_27=splice-acceptor_10;refseq.spliceInfo_28=splice-acceptor_10;refseq.spliceInfo_29=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_30=splice-acceptor_10;refseq.spliceInfo_31=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.spliceInfo_5=splice-acceptor_10;refseq.spliceInfo_6=splice-acceptor_10;refseq.spliceInfo_7=splice-acceptor_10;refseq.spliceInfo_8=splice-acceptor_10;refseq.spliceInfo_9=splice-acceptor_10;refseq.start_1=91607141;refseq.start_10=91607141;refseq.start_11=91607141;refseq.start_12=91607141;refseq.start_13=91607141;refseq.start_14=91607141;refseq.start_15=91607141;refseq.start_16=91607141;refseq.start_17=91607141;refseq.start_18=91607141;refseq.start_19=91607141;refseq.start_2=91607141;refseq.start_20=91607141;refseq.start_21=91607141;refseq.start_22=91607141;refseq.start_23=91607141;refseq.start_24=91607141;refseq.start_25=91607141;refseq.start_26=91607141;refseq.start_27=91607141;refseq.start_28=91607141;refseq.start_29=91607141;refseq.start_3=91607141;refseq.start_30=91607141;refseq.start_31=91607141;refseq.start_4=91607141;refseq.start_5=91607141;refseq.start_6=91607141;refseq.start_7=91607141;refseq.start_8=91607141;refseq.start_9=91607141;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_19=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_20=-;refseq.transcriptStrand_21=-;refseq.transcriptStrand_22=-;refseq.transcriptStrand_23=-;refseq.transcriptStrand_24=-;refseq.transcriptStrand_25=-;refseq.transcriptStrand_26=-;refseq.transcriptStrand_27=-;refseq.transcriptStrand_28=-;refseq.transcriptStrand_29=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_30=-;refseq.transcriptStrand_31=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_20=Gln;refseq.variantAA_21=Gln;refseq.variantAA_22=Glu;refseq.variantAA_23=Glu;refseq.variantAA_24=Glu;refseq.variantAA_25=Glu;refseq.variantAA_26=Gln;refseq.variantAA_27=Gln;refseq.variantAA_28=Gln;refseq.variantAA_29=Glu;refseq.variantAA_30=Gln;refseq.variantAA_31=Gln;refseq.variantCodon_20=CAG;refseq.variantCodon_21=CAG;refseq.variantCodon_22=GAA;refseq.variantCodon_23=GAA;refseq.variantCodon_24=GAA;refseq.variantCodon_25=GAA;refseq.variantCodon_26=CAG;refseq.variantCodon_27=CAG;refseq.variantCodon_28=CAG;refseq.variantCodon_29=GAA;refseq.variantCodon_30=CAG;refseq.variantCodon_31=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:11,26:25:-55.55,-7.53,-49.74:99 chr14 91619339 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=6.66;MQ=98.79;MQ0=0;OQ=2786.40;QD=17.41;RankSumP=0.0361484;SB=-508.49;SecondBestBaseQ=32;refseq.changesAA_25=false;refseq.changesAA_26=false;refseq.changesAA_27=false;refseq.changesAA_29=false;refseq.changesAA_30=false;refseq.changesAA_31=false;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_12=chr14;refseq.chr_13=chr14;refseq.chr_14=chr14;refseq.chr_15=chr14;refseq.chr_16=chr14;refseq.chr_17=chr14;refseq.chr_18=chr14;refseq.chr_19=chr14;refseq.chr_2=chr14;refseq.chr_20=chr14;refseq.chr_21=chr14;refseq.chr_22=chr14;refseq.chr_23=chr14;refseq.chr_24=chr14;refseq.chr_25=chr14;refseq.chr_26=chr14;refseq.chr_27=chr14;refseq.chr_28=chr14;refseq.chr_29=chr14;refseq.chr_3=chr14;refseq.chr_30=chr14;refseq.chr_31=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_25=c.447C>T;refseq.codingCoordStr_26=c.339C>T;refseq.codingCoordStr_27=c.129C>T;refseq.codingCoordStr_28=c.-46C>T;refseq.codingCoordStr_29=c.282C>T;refseq.codingCoordStr_30=c.492C>T;refseq.codingCoordStr_31=c.327C>T;refseq.codonCoord_25=149;refseq.codonCoord_26=113;refseq.codonCoord_27=43;refseq.codonCoord_29=94;refseq.codonCoord_30=164;refseq.codonCoord_31=109;refseq.end_1=91629338;refseq.end_10=91619339;refseq.end_11=91619339;refseq.end_12=91619339;refseq.end_13=91619339;refseq.end_14=91619339;refseq.end_15=91619339;refseq.end_16=91619339;refseq.end_17=91619339;refseq.end_18=91619339;refseq.end_19=91619339;refseq.end_2=91629338;refseq.end_20=91619339;refseq.end_21=91619339;refseq.end_22=91619339;refseq.end_23=91619339;refseq.end_24=91619339;refseq.end_25=91619339;refseq.end_26=91619339;refseq.end_27=91619339;refseq.end_28=91619339;refseq.end_29=91619339;refseq.end_3=91629338;refseq.end_30=91619339;refseq.end_31=91619339;refseq.end_4=91632179;refseq.end_5=91632179;refseq.end_6=91632760;refseq.end_7=91642615;refseq.end_8=91642615;refseq.end_9=91619339;refseq.frame_25=2;refseq.frame_26=2;refseq.frame_27=2;refseq.frame_29=2;refseq.frame_30=2;refseq.frame_31=2;refseq.functionalClass_25=silent;refseq.functionalClass_26=silent;refseq.functionalClass_27=silent;refseq.functionalClass_29=silent;refseq.functionalClass_30=silent;refseq.functionalClass_31=silent;refseq.haplotypeAlternate_10=*;refseq.haplotypeAlternate_11=*;refseq.haplotypeAlternate_12=*;refseq.haplotypeAlternate_13=*;refseq.haplotypeAlternate_14=*;refseq.haplotypeAlternate_15=*;refseq.haplotypeAlternate_16=*;refseq.haplotypeAlternate_17=*;refseq.haplotypeAlternate_18=*;refseq.haplotypeAlternate_19=*;refseq.haplotypeAlternate_20=*;refseq.haplotypeAlternate_21=*;refseq.haplotypeAlternate_22=*;refseq.haplotypeAlternate_23=*;refseq.haplotypeAlternate_24=*;refseq.haplotypeAlternate_25=A;refseq.haplotypeAlternate_26=A;refseq.haplotypeAlternate_27=A;refseq.haplotypeAlternate_28=A;refseq.haplotypeAlternate_29=A;refseq.haplotypeAlternate_30=A;refseq.haplotypeAlternate_31=A;refseq.haplotypeAlternate_9=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=*;refseq.haplotypeReference_23=*;refseq.haplotypeReference_24=*;refseq.haplotypeReference_25=G;refseq.haplotypeReference_26=G;refseq.haplotypeReference_27=G;refseq.haplotypeReference_28=G;refseq.haplotypeReference_29=G;refseq.haplotypeReference_3=*;refseq.haplotypeReference_30=G;refseq.haplotypeReference_31=G;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_25=true;refseq.inCodingRegion_26=true;refseq.inCodingRegion_27=true;refseq.inCodingRegion_28=false;refseq.inCodingRegion_29=true;refseq.inCodingRegion_30=true;refseq.inCodingRegion_31=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.mrnaCoord_10=310;refseq.mrnaCoord_11=475;refseq.mrnaCoord_12=310;refseq.mrnaCoord_13=566;refseq.mrnaCoord_15=561;refseq.mrnaCoord_16=473;refseq.mrnaCoord_18=110;refseq.mrnaCoord_19=408;refseq.mrnaCoord_20=430;refseq.mrnaCoord_21=110;refseq.mrnaCoord_23=475;refseq.mrnaCoord_24=310;refseq.mrnaCoord_25=516;refseq.mrnaCoord_26=408;refseq.mrnaCoord_27=198;refseq.mrnaCoord_28=265;refseq.mrnaCoord_29=351;refseq.mrnaCoord_30=561;refseq.mrnaCoord_31=396;refseq.mrnaCoord_9=475;refseq.name2_1=ATXN3;refseq.name2_10=ATXN3;refseq.name2_11=ATXN3;refseq.name2_12=ATXN3;refseq.name2_13=ATXN3;refseq.name2_14=ATXN3;refseq.name2_15=ATXN3;refseq.name2_16=ATXN3;refseq.name2_17=ATXN3;refseq.name2_18=ATXN3;refseq.name2_19=ATXN3;refseq.name2_2=ATXN3;refseq.name2_20=ATXN3;refseq.name2_21=ATXN3;refseq.name2_22=ATXN3;refseq.name2_23=ATXN3;refseq.name2_24=ATXN3;refseq.name2_25=ATXN3;refseq.name2_26=ATXN3;refseq.name2_27=ATXN3;refseq.name2_28=ATXN3;refseq.name2_29=ATXN3;refseq.name2_3=ATXN3;refseq.name2_30=ATXN3;refseq.name2_31=ATXN3;refseq.name2_4=ATXN3;refseq.name2_5=ATXN3;refseq.name2_6=ATXN3;refseq.name2_7=ATXN3;refseq.name2_8=ATXN3;refseq.name2_9=ATXN3;refseq.name_1=NM_001164778;refseq.name_10=NR_028454;refseq.name_11=NR_028455;refseq.name_12=NR_028456;refseq.name_13=NR_028457;refseq.name_14=NR_028458;refseq.name_15=NR_028459;refseq.name_16=NR_028461;refseq.name_17=NR_028462;refseq.name_18=NR_028463;refseq.name_19=NR_028464;refseq.name_2=NR_028460;refseq.name_20=NR_028465;refseq.name_21=NR_028466;refseq.name_22=NR_028467;refseq.name_23=NR_028468;refseq.name_24=NR_028469;refseq.name_25=NM_001127696;refseq.name_26=NM_001127697;refseq.name_27=NM_001164779;refseq.name_28=NM_001164780;refseq.name_29=NM_001164781;refseq.name_3=NR_028470;refseq.name_30=NM_004993;refseq.name_31=NM_030660;refseq.name_4=NM_001164776;refseq.name_5=NM_001164777;refseq.name_6=NM_001164774;refseq.name_7=NM_001164782;refseq.name_8=NR_031765;refseq.name_9=NR_028453;refseq.numMatchingRecords=31;refseq.positionType_1=intron;refseq.positionType_10=non_coding_exon;refseq.positionType_11=non_coding_exon;refseq.positionType_12=non_coding_exon;refseq.positionType_13=non_coding_exon;refseq.positionType_14=non_coding_intron;refseq.positionType_15=non_coding_exon;refseq.positionType_16=non_coding_exon;refseq.positionType_17=non_coding_intron;refseq.positionType_18=non_coding_exon;refseq.positionType_19=non_coding_exon;refseq.positionType_2=non_coding_intron;refseq.positionType_20=non_coding_exon;refseq.positionType_21=non_coding_exon;refseq.positionType_22=non_coding_intron;refseq.positionType_23=non_coding_exon;refseq.positionType_24=non_coding_exon;refseq.positionType_25=CDS;refseq.positionType_26=CDS;refseq.positionType_27=CDS;refseq.positionType_28=utr5;refseq.positionType_29=CDS;refseq.positionType_3=non_coding_intron;refseq.positionType_30=CDS;refseq.positionType_31=CDS;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.positionType_8=non_coding_intron;refseq.positionType_9=non_coding_exon;refseq.proteinCoordStr_25=p.V149V;refseq.proteinCoordStr_26=p.V113V;refseq.proteinCoordStr_27=p.V43V;refseq.proteinCoordStr_29=p.V94V;refseq.proteinCoordStr_30=p.V164V;refseq.proteinCoordStr_31=p.V109V;refseq.referenceAA_25=Val;refseq.referenceAA_26=Val;refseq.referenceAA_27=Val;refseq.referenceAA_29=Val;refseq.referenceAA_30=Val;refseq.referenceAA_31=Val;refseq.referenceCodon_25=GTC;refseq.referenceCodon_26=GTC;refseq.referenceCodon_27=GTC;refseq.referenceCodon_29=GTC;refseq.referenceCodon_30=GTC;refseq.referenceCodon_31=GTC;refseq.spliceDist_10=17;refseq.spliceDist_11=17;refseq.spliceDist_12=17;refseq.spliceDist_13=17;refseq.spliceDist_14=-7;refseq.spliceDist_15=17;refseq.spliceDist_16=17;refseq.spliceDist_17=-7;refseq.spliceDist_18=17;refseq.spliceDist_19=17;refseq.spliceDist_20=17;refseq.spliceDist_21=17;refseq.spliceDist_22=-7;refseq.spliceDist_23=17;refseq.spliceDist_24=17;refseq.spliceDist_25=17;refseq.spliceDist_26=17;refseq.spliceDist_27=17;refseq.spliceDist_28=17;refseq.spliceDist_29=17;refseq.spliceDist_30=17;refseq.spliceDist_31=17;refseq.spliceDist_9=17;refseq.spliceInfo_14=splice-acceptor_-7;refseq.spliceInfo_17=splice-acceptor_-7;refseq.spliceInfo_22=splice-acceptor_-7;refseq.start_1=91607161;refseq.start_10=91619339;refseq.start_11=91619339;refseq.start_12=91619339;refseq.start_13=91619339;refseq.start_14=91619339;refseq.start_15=91619339;refseq.start_16=91619339;refseq.start_17=91619339;refseq.start_18=91619339;refseq.start_19=91619339;refseq.start_2=91607161;refseq.start_20=91619339;refseq.start_21=91619339;refseq.start_22=91619339;refseq.start_23=91619339;refseq.start_24=91619339;refseq.start_25=91619339;refseq.start_26=91619339;refseq.start_27=91619339;refseq.start_28=91619339;refseq.start_29=91619339;refseq.start_3=91607161;refseq.start_30=91619339;refseq.start_31=91619339;refseq.start_4=91607161;refseq.start_5=91607161;refseq.start_6=91607161;refseq.start_7=91607161;refseq.start_8=91618574;refseq.start_9=91619339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_19=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_20=-;refseq.transcriptStrand_21=-;refseq.transcriptStrand_22=-;refseq.transcriptStrand_23=-;refseq.transcriptStrand_24=-;refseq.transcriptStrand_25=-;refseq.transcriptStrand_26=-;refseq.transcriptStrand_27=-;refseq.transcriptStrand_28=-;refseq.transcriptStrand_29=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_30=-;refseq.transcriptStrand_31=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_25=Val;refseq.variantAA_26=Val;refseq.variantAA_27=Val;refseq.variantAA_29=Val;refseq.variantAA_30=Val;refseq.variantAA_31=Val;refseq.variantCodon_25=GTT;refseq.variantCodon_26=GTT;refseq.variantCodon_27=GTT;refseq.variantCodon_29=GTT;refseq.variantCodon_30=GTT;refseq.variantCodon_31=GTT;set=Intersection GT 1/0 chr14 91657755 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=97.49;MQ0=0;OQ=555.50;QD=9.92;RankSumP=0.395046;SB=-109.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.120A>C;refseq.codonCoord=40;refseq.end=91657755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_004545;refseq.name2=NDUFB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V40V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-17;refseq.start=91657755;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr14 91657822 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=2.00567e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.53T>G;refseq.codonCoord=18;refseq.end=91657822;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=85;refseq.name=NM_004545;refseq.name2=NDUFB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V18G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-84;refseq.start=91657822;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr14 91862008 . G A 314.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=99.00;MQ0=0;OQ=5344.20;QD=42.08;RankSumP=1.00000;SB=-1668.18;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.123G>A;refseq.codingCoordStr_2=c.123G>A;refseq.codingCoordStr_3=c.-19G>A;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=91862008;refseq.end_2=91862008;refseq.end_3=91862008;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=147;refseq.mrnaCoord_2=147;refseq.mrnaCoord_3=99;refseq.name2_1=SLC24A4;refseq.name2_2=SLC24A4;refseq.name2_3=SLC24A4;refseq.name_1=NM_153646;refseq.name_2=NM_153647;refseq.name_3=NM_153648;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.T41T;refseq.proteinCoordStr_2=p.T41T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=91862008;refseq.start_2=91862008;refseq.start_3=91862008;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.uorfChange_3=+1;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr14 91978215 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.372A>G;refseq.codingCoordStr_2=c.372A>G;refseq.codingCoordStr_3=c.231A>G;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.codonCoord_3=77;refseq.end_1=91978215;refseq.end_2=91978215;refseq.end_3=91978215;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=396;refseq.mrnaCoord_2=396;refseq.mrnaCoord_3=348;refseq.name2_1=SLC24A4;refseq.name2_2=SLC24A4;refseq.name2_3=SLC24A4;refseq.name_1=NM_153646;refseq.name_2=NM_153647;refseq.name_3=NM_153648;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G124G;refseq.proteinCoordStr_2=p.G124G;refseq.proteinCoordStr_3=p.G77G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=91978215;refseq.start_2=91978215;refseq.start_3=91978215;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr14 91978826 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=25.69;MQ=98.68;MQ0=0;OQ=4947.39;QD=16.22;RankSumP=0.130540;SB=-949.69;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.444T>C;refseq.codingCoordStr_2=c.444T>C;refseq.codingCoordStr_3=c.303T>C;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.codonCoord_3=101;refseq.end_1=91978826;refseq.end_2=91978826;refseq.end_3=91978826;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=468;refseq.mrnaCoord_2=468;refseq.mrnaCoord_3=420;refseq.name2_1=SLC24A4;refseq.name2_2=SLC24A4;refseq.name2_3=SLC24A4;refseq.name_1=NM_153646;refseq.name_2=NM_153647;refseq.name_3=NM_153648;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H148H;refseq.proteinCoordStr_2=p.H148H;refseq.proteinCoordStr_3=p.H101H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=91978826;refseq.start_2=91978826;refseq.start_3=91978826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/0 chr14 91990124 . C T 422.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=7178.36;QD=41.73;RankSumP=1.00000;SB=-1600.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.957C>T;refseq.codingCoordStr_2=c.900C>T;refseq.codingCoordStr_3=c.816C>T;refseq.codonCoord_1=319;refseq.codonCoord_2=300;refseq.codonCoord_3=272;refseq.end_1=91990124;refseq.end_2=91990124;refseq.end_3=91990124;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=981;refseq.mrnaCoord_2=924;refseq.mrnaCoord_3=933;refseq.name2_1=SLC24A4;refseq.name2_2=SLC24A4;refseq.name2_3=SLC24A4;refseq.name_1=NM_153646;refseq.name_2=NM_153647;refseq.name_3=NM_153648;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P319P;refseq.proteinCoordStr_2=p.P300P;refseq.proteinCoordStr_3=p.P272P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=91990124;refseq.start_2=91990124;refseq.start_3=91990124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr14 92187951 . C T 267.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=98.65;MQ0=0;OQ=2961.01;QD=17.42;RankSumP=0.239997;SB=-525.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.804C>T;refseq.codonCoord=268;refseq.end=92187951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_024832;refseq.name2=RIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A268A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=272;refseq.start=92187951;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr14 92188421 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.05;MQ0=0;OQ=720.64;QD=12.64;RankSumP=0.357406;SB=-245.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1274C>T;refseq.codonCoord=425;refseq.end=92188421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1426;refseq.name=NM_024832;refseq.name2=RIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T425M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=742;refseq.start=92188421;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr14 92188422 . G A 230.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.05;MQ0=0;OQ=1049.08;QD=18.40;RankSumP=0.0558094;SB=-495.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1275G>A;refseq.codonCoord=425;refseq.end=92188422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1427;refseq.name=NM_024832;refseq.name2=RIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T425T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=743;refseq.start=92188422;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr14 92224305 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.000425367;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.2913C>G;refseq.codonCoord=971;refseq.end=92224305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3065;refseq.name=NM_024832;refseq.name2=RIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G971G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=282;refseq.start=92224305;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 92240746 . C T 226.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.61;MQ0=0;OQ=1823.40;QD=19.61;RankSumP=0.0941163;SB=-620.41;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1251G>A;refseq.codingCoordStr_2=c.1251G>A;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.end_1=92240746;refseq.end_2=92240746;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1577;refseq.mrnaCoord_2=1459;refseq.name2_1=LGMN;refseq.name2_2=LGMN;refseq.name_1=NM_001008530;refseq.name_2=NM_005606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P417P;refseq.proteinCoordStr_2=p.P417P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=92240746;refseq.start_2=92240746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr14 92247786 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.790A>C;refseq.codingCoordStr_2=c.790A>C;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=92247786;refseq.end_2=92247786;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1116;refseq.mrnaCoord_2=998;refseq.name2_1=LGMN;refseq.name2_2=LGMN;refseq.name_1=NM_001008530;refseq.name_2=NM_005606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T264P;refseq.proteinCoordStr_2=p.T264P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=92247786;refseq.start_2=92247786;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr14 92247944 . A G 213.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=6.29;MQ=96.16;MQ0=1;OQ=7474.99;QD=39.34;RankSumP=1.00000;SB=-3200.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.720T>C;refseq.codingCoordStr_2=c.720T>C;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=92247944;refseq.end_2=92247944;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1046;refseq.mrnaCoord_2=928;refseq.name2_1=LGMN;refseq.name2_2=LGMN;refseq.name_1=NM_001008530;refseq.name_2=NM_005606;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D240D;refseq.proteinCoordStr_2=p.D240D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=92247944;refseq.start_2=92247944;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr14 92333735 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=98.44;MQ0=0;OQ=5962.59;QD=27.10;RankSumP=0.193615;SB=-1924.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.200C>G;refseq.codonCoord=67;refseq.end=92333735;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_005113;refseq.name2=GOLGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A67G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=230;refseq.start=92333735;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr14 92345594 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=1.88;MQ=99.00;MQ0=0;OQ=732.22;QD=23.62;RankSumP=0.445803;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.969A>G;refseq.codonCoord=323;refseq.end=92345594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_005113;refseq.name2=GOLGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E323E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-24;refseq.start=92345594;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr14 92346407 . T C 261.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.98;MQ0=0;OQ=2296.59;QD=17.01;RankSumP=0.443876;SB=-549.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1048T>C;refseq.codonCoord=350;refseq.end=92346407;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_005113;refseq.name2=GOLGA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F350L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=56;refseq.start=92346407;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr14 92468834 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=15.36;MQ=95.67;MQ0=0;OQ=598.97;QD=10.70;RankSumP=0.694629;SB=-195.85;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1175G>A;refseq.codonCoord=392;refseq.end=92468834;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1435;refseq.name=NM_001275;refseq.name2=CHGA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R392Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-116;refseq.start=92468834;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr14 92468922 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=96.24;MQ0=0;OQ=241.43;QD=13.41;RankSumP=0.198446;SB=-3.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1263G>A;refseq.codonCoord=421;refseq.end=92468922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1523;refseq.name=NM_001275;refseq.name2=CHGA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E421E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-28;refseq.start=92468922;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr14 92470931 . A G 108.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.68;MQ0=0;OQ=874.07;QD=16.19;RankSumP=0.576838;SB=-456.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1323A>G;refseq.codonCoord=441;refseq.end=92470931;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1583;refseq.name=NM_001275;refseq.name2=CHGA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E441E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=33;refseq.start=92470931;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr14 92719751 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.590T>G;refseq.codonCoord=197;refseq.end=92719751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_022151;refseq.name2=MOAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=710;refseq.start=92719751;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 92755443 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.715A>C;refseq.codingCoordStr_2=c.943A>C;refseq.codonCoord_1=239;refseq.codonCoord_2=315;refseq.end_1=92755443;refseq.end_2=92755443;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1045;refseq.mrnaCoord_2=1179;refseq.name2_1=UBR7;refseq.name2_2=UBR7;refseq.name_1=NM_001100417;refseq.name_2=NM_175748;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T239P;refseq.proteinCoordStr_2=p.T315P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=92755443;refseq.start_2=92755443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr14 93064707 . G A 219.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=4.28;MQ=98.96;MQ0=0;OQ=11692.79;QD=40.46;RankSumP=1.00000;SB=-5019.14;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=93064707;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_020818;refseq.name2=KIAA1409;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-39;refseq.start=93064707;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr14 93076828 . C T 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=27.67;MQ=98.20;MQ0=0;OQ=9125.01;QD=27.48;RankSumP=1.00000;SB=-2311.65;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.891C>T;refseq.codonCoord=297;refseq.end=93076828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1546;refseq.name=NM_020818;refseq.name2=KIAA1409;refseq.positionType=CDS;refseq.proteinCoordStr=p.G297G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=70;refseq.start=93076828;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr14 93158340 . G A 220.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=9.35;MQ=98.56;MQ0=0;OQ=17068.99;QD=40.26;RankSumP=1.00000;SB=-8225.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4477G>A;refseq.codonCoord=1493;refseq.end=93158340;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5132;refseq.name=NM_020818;refseq.name2=KIAA1409;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1493I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-601;refseq.start=93158340;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr14 93173355 . G A 117.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=487;Dels=0.00;HRun=0;HaplotypeScore=14.17;MQ=98.66;MQ0=0;OQ=19473.59;QD=39.99;RankSumP=1.00000;SB=-8953.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.5343G>A;refseq.codonCoord=1781;refseq.end=93173355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5998;refseq.name=NM_020818;refseq.name2=KIAA1409;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1781T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=41;refseq.start=93173355;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr14 93257585 . C T 326.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.80;MQ0=0;OQ=6142.90;QD=19.20;RankSumP=0.186807;SB=-2601.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.420G>A;refseq.codonCoord=140;refseq.end=93257585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_178013;refseq.name2=PRIMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S140S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=61;refseq.start=93257585;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr14 93461452 . G A 412.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.48;MQ0=0;OQ=10594.92;QD=40.59;RankSumP=1.00000;SB=-3536.15;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.82G>A;refseq.codonCoord_2=28;refseq.end_1=93462364;refseq.end_2=93461452;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=389;refseq.name2_1=C14orf86;refseq.name2_2=FAM181A;refseq.name_1=NR_027004;refseq.name_2=NM_138344;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A28T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-18;refseq.start_1=93460110;refseq.start_2=93461452;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr14 93475624 . G C 103.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=96.85;MQ0=0;OQ=2060.83;QD=34.93;RankSumP=1.00000;SB=-556.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1056C>G;refseq.codonCoord=352;refseq.end=93475624;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_016150;refseq.name2=ASB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A352A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=148;refseq.start=93475624;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr14 93487174 . G A 239.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.94;MQ0=0;OQ=1588.87;QD=15.73;RankSumP=0.293763;SB=-686.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.660C>T;refseq.codonCoord=220;refseq.end=93487174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_016150;refseq.name2=ASB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N220N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-77;refseq.start=93487174;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr14 93487294 . A G 94.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=7.64;MQ=97.31;MQ0=0;OQ=1896.94;QD=27.90;RankSumP=1.00000;SB=-974.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.540T>C;refseq.codonCoord=180;refseq.end=93487294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_016150;refseq.name2=ASB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N180N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=50;refseq.start=93487294;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 93487339 . G A 277.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=6.72;MQ=98.11;MQ0=0;OQ=1408.00;QD=16.96;RankSumP=0.290266;SB=-663.14;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.495C>T;refseq.codonCoord=165;refseq.end=93487339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_016150;refseq.name2=ASB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C165C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=93487339;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr14 93580717 . T C 115.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.77;MQ0=0;OQ=3004.80;QD=11.92;RankSumP=0.331109;SB=-1342.04;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.336T>C;refseq.codonCoord=112;refseq.end=93580717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_023112;refseq.name2=OTUB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D112D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=33;refseq.start=93580717;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr14 93587320 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2550A>C;refseq.codonCoord=850;refseq.end=93587320;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2649;refseq.name=NM_020414;refseq.name2=DDX24;refseq.positionType=CDS;refseq.proteinCoordStr=p.E850D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=242;refseq.start=93587320;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr14 93587481 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2389T>C;refseq.codonCoord=797;refseq.end=93587481;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2488;refseq.name=NM_020414;refseq.name2=DDX24;refseq.positionType=CDS;refseq.proteinCoordStr=p.S797P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=81;refseq.start=93587481;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr14 93591282 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1991T>G;refseq.codonCoord=664;refseq.end=93591282;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2090;refseq.name=NM_020414;refseq.name2=DDX24;refseq.positionType=CDS;refseq.proteinCoordStr=p.V664G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=93591282;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr14 93593969 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=22.11;MQ=97.31;MQ0=0;OQ=2327.60;QD=11.47;RankSumP=0.451351;SB=-1178.33;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1941A>G;refseq.codonCoord=647;refseq.end=93593969;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2040;refseq.name=NM_020414;refseq.name2=DDX24;refseq.positionType=CDS;refseq.proteinCoordStr=p.A647A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=28;refseq.start=93593969;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr14 93637922 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=8.60745e-08;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.71T>G;refseq.codingCoordStr_2=c.71T>G;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=93637922;refseq.end_2=93637922;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=279;refseq.name2_1=IFI27L1;refseq.name2_2=IFI27L1;refseq.name_1=NM_145249;refseq.name_2=NM_206949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V24G;refseq.proteinCoordStr_2=p.V24G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=93637922;refseq.start_2=93637922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr14 93651889 . T G 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.502717;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.131T>G;refseq.codonCoord=44;refseq.end=93651889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_005532;refseq.name2=IFI27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V44G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=93651889;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr14 93826203 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.52;MQ0=0;OQ=1682.34;QD=11.29;RankSumP=0.238179;SB=-488.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.481A>T;refseq.codingCoordStr_2=c.481A>T;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=93826203;refseq.end_2=93826203;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=602;refseq.mrnaCoord_2=947;refseq.name2_1=SERPINA10;refseq.name2_2=SERPINA10;refseq.name_1=NM_001100607;refseq.name_2=NM_016186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T161S;refseq.proteinCoordStr_2=p.T161S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-238;refseq.spliceDist_2=-238;refseq.start_1=93826203;refseq.start_2=93826203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr14 93826503 . T C 105.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=4.78;MQ=98.89;MQ0=0;OQ=2023.41;QD=13.49;RankSumP=0.0477851;SB=-433.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.181A>G;refseq.codingCoordStr_2=c.181A>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=93826503;refseq.end_2=93826503;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=647;refseq.name2_1=SERPINA10;refseq.name2_2=SERPINA10;refseq.name_1=NM_001100607;refseq.name_2=NM_016186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S61G;refseq.proteinCoordStr_2=p.S61G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=231;refseq.spliceDist_2=231;refseq.start_1=93826503;refseq.start_2=93826503;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr14 93826547 . T C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.00;MQ0=0;OQ=2722.73;QD=39.46;RankSumP=1.00000;SB=-851.35;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.137A>G;refseq.codingCoordStr_2=c.137A>G;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=93826547;refseq.end_2=93826547;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=258;refseq.mrnaCoord_2=603;refseq.name2_1=SERPINA10;refseq.name2_2=SERPINA10;refseq.name_1=NM_001100607;refseq.name_2=NM_016186;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K46R;refseq.proteinCoordStr_2=p.K46R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=187;refseq.spliceDist_2=187;refseq.start_1=93826547;refseq.start_2=93826547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr14 93842182 . G A 193.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.99;MQ0=0;OQ=4085.83;QD=15.71;RankSumP=0.188800;SB=-1282.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1011C>T;refseq.codonCoord=337;refseq.end=93842182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1115;refseq.name=NM_001756;refseq.name2=SERPINA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D337D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-22;refseq.start=93842182;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr14 93845974 . A C 215.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.88;MQ0=0;OQ=6910.32;QD=16.07;RankSumP=0.104455;SB=-2499.51;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.736T>G;refseq.codonCoord=246;refseq.end=93845974;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=840;refseq.name=NM_001756;refseq.name2=SERPINA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S246A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=123;refseq.start=93845974;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 93914596 . T G 209.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=98.75;MQ0=0;OQ=10786.88;QD=40.86;RankSumP=1.00000;SB=-5202.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_1=c.1200A>C;refseq.codingCoordStr_10=c.1200A>C;refseq.codingCoordStr_11=c.1200A>C;refseq.codingCoordStr_2=c.1200A>C;refseq.codingCoordStr_3=c.1200A>C;refseq.codingCoordStr_4=c.1200A>C;refseq.codingCoordStr_5=c.1200A>C;refseq.codingCoordStr_6=c.1200A>C;refseq.codingCoordStr_7=c.1200A>C;refseq.codingCoordStr_8=c.1200A>C;refseq.codingCoordStr_9=c.1200A>C;refseq.codonCoord_1=400;refseq.codonCoord_10=400;refseq.codonCoord_11=400;refseq.codonCoord_2=400;refseq.codonCoord_3=400;refseq.codonCoord_4=400;refseq.codonCoord_5=400;refseq.codonCoord_6=400;refseq.codonCoord_7=400;refseq.codonCoord_8=400;refseq.codonCoord_9=400;refseq.end_1=93914596;refseq.end_10=93914596;refseq.end_11=93914596;refseq.end_2=93914596;refseq.end_3=93914596;refseq.end_4=93914596;refseq.end_5=93914596;refseq.end_6=93914596;refseq.end_7=93914596;refseq.end_8=93914596;refseq.end_9=93914596;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1461;refseq.mrnaCoord_10=1544;refseq.mrnaCoord_11=1541;refseq.mrnaCoord_2=1440;refseq.mrnaCoord_3=1754;refseq.mrnaCoord_4=1477;refseq.mrnaCoord_5=1773;refseq.mrnaCoord_6=1581;refseq.mrnaCoord_7=1736;refseq.mrnaCoord_8=1733;refseq.mrnaCoord_9=1751;refseq.name2_1=SERPINA1;refseq.name2_10=SERPINA1;refseq.name2_11=SERPINA1;refseq.name2_2=SERPINA1;refseq.name2_3=SERPINA1;refseq.name2_4=SERPINA1;refseq.name2_5=SERPINA1;refseq.name2_6=SERPINA1;refseq.name2_7=SERPINA1;refseq.name2_8=SERPINA1;refseq.name2_9=SERPINA1;refseq.name_1=NM_000295;refseq.name_10=NM_001127706;refseq.name_11=NM_001127707;refseq.name_2=NM_001002235;refseq.name_3=NM_001002236;refseq.name_4=NM_001127700;refseq.name_5=NM_001127701;refseq.name_6=NM_001127702;refseq.name_7=NM_001127703;refseq.name_8=NM_001127704;refseq.name_9=NM_001127705;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.E400D;refseq.proteinCoordStr_10=p.E400D;refseq.proteinCoordStr_11=p.E400D;refseq.proteinCoordStr_2=p.E400D;refseq.proteinCoordStr_3=p.E400D;refseq.proteinCoordStr_4=p.E400D;refseq.proteinCoordStr_5=p.E400D;refseq.proteinCoordStr_6=p.E400D;refseq.proteinCoordStr_7=p.E400D;refseq.proteinCoordStr_8=p.E400D;refseq.proteinCoordStr_9=p.E400D;refseq.referenceAA_1=Glu;refseq.referenceAA_10=Glu;refseq.referenceAA_11=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceAA_8=Glu;refseq.referenceAA_9=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_10=GAA;refseq.referenceCodon_11=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.referenceCodon_6=GAA;refseq.referenceCodon_7=GAA;refseq.referenceCodon_8=GAA;refseq.referenceCodon_9=GAA;refseq.spliceDist_1=135;refseq.spliceDist_10=135;refseq.spliceDist_11=135;refseq.spliceDist_2=135;refseq.spliceDist_3=135;refseq.spliceDist_4=135;refseq.spliceDist_5=135;refseq.spliceDist_6=135;refseq.spliceDist_7=135;refseq.spliceDist_8=135;refseq.spliceDist_9=135;refseq.start_1=93914596;refseq.start_10=93914596;refseq.start_11=93914596;refseq.start_2=93914596;refseq.start_3=93914596;refseq.start_4=93914596;refseq.start_5=93914596;refseq.start_6=93914596;refseq.start_7=93914596;refseq.start_8=93914596;refseq.start_9=93914596;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Asp;refseq.variantAA_10=Asp;refseq.variantAA_11=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantAA_7=Asp;refseq.variantAA_8=Asp;refseq.variantAA_9=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_10=GAC;refseq.variantCodon_11=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;refseq.variantCodon_6=GAC;refseq.variantCodon_7=GAC;refseq.variantCodon_8=GAC;refseq.variantCodon_9=GAC;set=Intersection GT 1/1 chr14 93918904 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=98.36;MQ0=0;OQ=1886.08;QD=19.44;RankSumP=0.463420;SB=-539.52;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr14;refseq.chr_10=chr14;refseq.chr_11=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.chr_6=chr14;refseq.chr_7=chr14;refseq.chr_8=chr14;refseq.chr_9=chr14;refseq.codingCoordStr_1=c.424C>T;refseq.codingCoordStr_10=c.424C>T;refseq.codingCoordStr_11=c.424C>T;refseq.codingCoordStr_2=c.424C>T;refseq.codingCoordStr_3=c.424C>T;refseq.codingCoordStr_4=c.424C>T;refseq.codingCoordStr_5=c.424C>T;refseq.codingCoordStr_6=c.424C>T;refseq.codingCoordStr_7=c.424C>T;refseq.codingCoordStr_8=c.424C>T;refseq.codingCoordStr_9=c.424C>T;refseq.codonCoord_1=142;refseq.codonCoord_10=142;refseq.codonCoord_11=142;refseq.codonCoord_2=142;refseq.codonCoord_3=142;refseq.codonCoord_4=142;refseq.codonCoord_5=142;refseq.codonCoord_6=142;refseq.codonCoord_7=142;refseq.codonCoord_8=142;refseq.codonCoord_9=142;refseq.end_1=93918904;refseq.end_10=93918904;refseq.end_11=93918904;refseq.end_2=93918904;refseq.end_3=93918904;refseq.end_4=93918904;refseq.end_5=93918904;refseq.end_6=93918904;refseq.end_7=93918904;refseq.end_8=93918904;refseq.end_9=93918904;refseq.frame_1=0;refseq.frame_10=0;refseq.frame_11=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.frame_9=0;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_10=A;refseq.haplotypeAlternate_11=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeAlternate_9=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=685;refseq.mrnaCoord_10=768;refseq.mrnaCoord_11=765;refseq.mrnaCoord_2=664;refseq.mrnaCoord_3=978;refseq.mrnaCoord_4=701;refseq.mrnaCoord_5=997;refseq.mrnaCoord_6=805;refseq.mrnaCoord_7=960;refseq.mrnaCoord_8=957;refseq.mrnaCoord_9=975;refseq.name2_1=SERPINA1;refseq.name2_10=SERPINA1;refseq.name2_11=SERPINA1;refseq.name2_2=SERPINA1;refseq.name2_3=SERPINA1;refseq.name2_4=SERPINA1;refseq.name2_5=SERPINA1;refseq.name2_6=SERPINA1;refseq.name2_7=SERPINA1;refseq.name2_8=SERPINA1;refseq.name2_9=SERPINA1;refseq.name_1=NM_000295;refseq.name_10=NM_001127706;refseq.name_11=NM_001127707;refseq.name_2=NM_001002235;refseq.name_3=NM_001002236;refseq.name_4=NM_001127700;refseq.name_5=NM_001127701;refseq.name_6=NM_001127702;refseq.name_7=NM_001127703;refseq.name_8=NM_001127704;refseq.name_9=NM_001127705;refseq.numMatchingRecords=11;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.L142L;refseq.proteinCoordStr_10=p.L142L;refseq.proteinCoordStr_11=p.L142L;refseq.proteinCoordStr_2=p.L142L;refseq.proteinCoordStr_3=p.L142L;refseq.proteinCoordStr_4=p.L142L;refseq.proteinCoordStr_5=p.L142L;refseq.proteinCoordStr_6=p.L142L;refseq.proteinCoordStr_7=p.L142L;refseq.proteinCoordStr_8=p.L142L;refseq.proteinCoordStr_9=p.L142L;refseq.referenceAA_1=Leu;refseq.referenceAA_10=Leu;refseq.referenceAA_11=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceAA_8=Leu;refseq.referenceAA_9=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_10=CTG;refseq.referenceCodon_11=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.referenceCodon_7=CTG;refseq.referenceCodon_8=CTG;refseq.referenceCodon_9=CTG;refseq.spliceDist_1=-223;refseq.spliceDist_10=-223;refseq.spliceDist_11=-223;refseq.spliceDist_2=-223;refseq.spliceDist_3=-223;refseq.spliceDist_4=-223;refseq.spliceDist_5=-223;refseq.spliceDist_6=-223;refseq.spliceDist_7=-223;refseq.spliceDist_8=-223;refseq.spliceDist_9=-223;refseq.start_1=93918904;refseq.start_10=93918904;refseq.start_11=93918904;refseq.start_2=93918904;refseq.start_3=93918904;refseq.start_4=93918904;refseq.start_5=93918904;refseq.start_6=93918904;refseq.start_7=93918904;refseq.start_8=93918904;refseq.start_9=93918904;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Leu;refseq.variantAA_10=Leu;refseq.variantAA_11=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantAA_8=Leu;refseq.variantAA_9=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_10=TTG;refseq.variantCodon_11=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;refseq.variantCodon_5=TTG;refseq.variantCodon_6=TTG;refseq.variantCodon_7=TTG;refseq.variantCodon_8=TTG;refseq.variantCodon_9=TTG;set=Intersection GT 1/0 chr14 93982552 . G A 266.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.88;MQ0=0;OQ=2004.57;QD=17.43;RankSumP=0.470037;SB=-1008.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.786C>T;refseq.codonCoord=262;refseq.end=93982552;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_001080451;refseq.name2=SERPINA11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T262T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-132;refseq.start=93982552;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 93982649 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=89;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=99.00;MQ0=0;OQ=1184.68;QD=13.31;RankSumP=0.465822;SB=-595.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.689A>C;refseq.codonCoord=230;refseq.end=93982649;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_001080451;refseq.name2=SERPINA11;refseq.positionType=CDS;refseq.proteinCoordStr=p.E230A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=46;refseq.start=93982649;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr14 93999294 . G A 330.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=5.23;MQ=98.94;MQ0=0;OQ=10190.73;QD=39.81;RankSumP=1.00000;SB=-4070.46;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.897C>T;refseq.codingCoordStr_2=c.1197C>T;refseq.codonCoord_1=299;refseq.codonCoord_2=399;refseq.end_1=93999294;refseq.end_2=93999294;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=1358;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G299G;refseq.proteinCoordStr_2=p.G399G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=93999294;refseq.start_2=93999294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr14 94000858 . A G 308.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=7824.76;QD=40.54;RankSumP=1.00000;SB=-3522.82;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.743T>C;refseq.codingCoordStr_2=c.1043T>C;refseq.codonCoord_1=248;refseq.codonCoord_2=348;refseq.end_1=94000858;refseq.end_2=94000858;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=904;refseq.mrnaCoord_2=1204;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V248A;refseq.proteinCoordStr_2=p.V348A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=94000858;refseq.start_2=94000858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr14 94003226 . C A 136 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=12.55;MQ=98.73;MQ0=0;OQ=5817.61;QD=14.58;RankSumP=0.487712;SB=-1883.59;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.629G>T;refseq.codingCoordStr_2=c.929G>T;refseq.codonCoord_1=210;refseq.codonCoord_2=310;refseq.end_1=94003226;refseq.end_2=94003226;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=790;refseq.mrnaCoord_2=1090;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R210I;refseq.proteinCoordStr_2=p.R310I;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=94003226;refseq.start_2=94003226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr14 94003393 . A T 107.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=5.37;MQ=98.81;MQ0=0;OQ=2226.49;QD=14.36;RankSumP=0.203751;SB=-974.00;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.462T>A;refseq.codingCoordStr_2=c.762T>A;refseq.codonCoord_1=154;refseq.codonCoord_2=254;refseq.end_1=94003393;refseq.end_2=94003393;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=623;refseq.mrnaCoord_2=923;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H154Q;refseq.proteinCoordStr_2=p.H254Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=94003393;refseq.start_2=94003393;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr14 94003448 . G A 132.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=98.54;MQ0=0;OQ=4923.51;QD=23.67;RankSumP=0.388700;SB=-2140.46;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.407C>T;refseq.codingCoordStr_2=c.707C>T;refseq.codonCoord_1=136;refseq.codonCoord_2=236;refseq.end_1=94003448;refseq.end_2=94003448;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=568;refseq.mrnaCoord_2=868;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P136L;refseq.proteinCoordStr_2=p.P236L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=94003448;refseq.start_2=94003448;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr14 94003462 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.58;MQ0=0;OQ=4041.53;QD=20.83;RankSumP=0.454694;SB=-1321.70;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.393G>A;refseq.codingCoordStr_2=c.693G>A;refseq.codonCoord_1=131;refseq.codonCoord_2=231;refseq.end_1=94003462;refseq.end_2=94003462;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=554;refseq.mrnaCoord_2=854;refseq.name2_1=SERPINA9;refseq.name2_2=SERPINA9;refseq.name_1=NM_001042518;refseq.name_2=NM_175739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E131E;refseq.proteinCoordStr_2=p.E231E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=94003462;refseq.start_2=94003462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr14 94123643 . G A 327.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=3.28;MQ=98.32;MQ0=0;OQ=3726.04;QD=39.22;RankSumP=1.00000;SB=-1532.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.191G>A;refseq.codonCoord=64;refseq.end=94123643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_000624;refseq.name2=SERPINA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S64N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=208;refseq.start=94123643;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr14 94123929 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=3;HaplotypeScore=2.74;MQ=98.60;MQ0=0;OQ=9270.16;QD=40.84;RankSumP=1.00000;SB=-3708.76;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=94123929;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_000624;refseq.name2=SERPINA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P159P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-143;refseq.start=94123929;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr14 94128215 . A C 132.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=99.00;MQ0=0;OQ=1958.99;QD=29.68;RankSumP=1.00000;SB=-418.06;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1107A>C;refseq.codonCoord=369;refseq.end=94128215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_000624;refseq.name2=SERPINA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I369I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=69;refseq.start=94128215;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr14 94150556 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.68;MQ0=0;OQ=1427.32;QD=25.04;RankSumP=0.162387;SB=-228.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.25G>A;refseq.codonCoord=9;refseq.end=94150556;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=104;refseq.name=NM_001085;refseq.name2=SERPINA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A9T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=33;refseq.start=94150556;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 94155460 . C T 102.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=96.75;MQ0=0;OQ=1819.99;QD=14.56;RankSumP=0.0584789;SB=-621.56;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.819C>T;refseq.codonCoord=273;refseq.end=94155460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=898;refseq.name=NM_001085;refseq.name2=SERPINA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S273S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-99;refseq.start=94155460;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr14 94642167 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2951A>C;refseq.codingCoordStr_2=c.2951A>C;refseq.codonCoord_1=984;refseq.codonCoord_2=984;refseq.end_1=94642167;refseq.end_2=94642167;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3133;refseq.mrnaCoord_2=3189;refseq.name2_1=DICER1;refseq.name2_2=DICER1;refseq.name_1=NM_030621;refseq.name_2=NM_177438;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N984T;refseq.proteinCoordStr_2=p.N984T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=94642167;refseq.start_2=94642167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr14 94954076 . G A 80.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=9.94;MQ=98.48;MQ0=0;OQ=2289.77;QD=25.44;RankSumP=1.00000;SB=-552.68;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2768C>T;refseq.codonCoord=923;refseq.end=94954076;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2783;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.A923V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=41;refseq.start=94954076;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr14 94975867 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2081T>G;refseq.codonCoord=694;refseq.end=94975867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2096;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.V694G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=94975867;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 94976074 . G A 189.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.43;MQ0=0;OQ=2366.73;QD=30.34;RankSumP=1.00000;SB=-889.03;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2003C>T;refseq.codonCoord=668;refseq.end=94976074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2018;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.T668M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-71;refseq.start=94976074;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr14 94988378 . T C 336.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=93.32;MQ0=0;OQ=4507.22;QD=33.39;RankSumP=1.00000;SB=-2157.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1233A>G;refseq.codonCoord=411;refseq.end=94988378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.P411P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-42;refseq.start=94988378;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr14 94991494 . C T 156.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=4.44;MQ=96.74;MQ0=0;OQ=2704.80;QD=34.24;RankSumP=1.00000;SB=-391.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1110G>A;refseq.codonCoord=370;refseq.end=94991494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.E370E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-28;refseq.start=94991494;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr14 94993423 . A C 214.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=98.38;MQ0=0;OQ=4284.99;QD=34.01;RankSumP=1.00000;SB=-1848.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.633T>G;refseq.codonCoord=211;refseq.end=94993423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_152592;refseq.name2=C14orf49;refseq.positionType=CDS;refseq.proteinCoordStr=p.R211R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=94993423;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr14 95199708 . A C 117.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=382;Dels=0.00;HRun=2;HaplotypeScore=5.53;MQ=98.90;MQ0=0;OQ=7157.35;QD=18.74;RankSumP=0.321443;SB=-2565.96;SecondBestBaseQ=33;refseq.chr=chr14;refseq.end=95205630;refseq.haplotypeReference=*;refseq.name=NR_028288;refseq.name2=TCL6;refseq.positionType=non_coding_intron;refseq.start=95198765;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr14 95204342 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=514;Dels=0.00;HRun=1;HaplotypeScore=12.42;MQ=98.83;MQ0=0;OQ=10972.94;QD=21.35;RankSumP=0.000447188;SB=-3876.68;SecondBestBaseQ=31;refseq.chr=chr14;refseq.end=95205630;refseq.haplotypeReference=*;refseq.name=NR_028288;refseq.name2=TCL6;refseq.positionType=non_coding_intron;refseq.start=95198765;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 0/1 chr14 95206547 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=24.23;MQ=97.73;MQ0=0;OQ=3965.99;QD=14.22;RankSumP=0.473855;SB=-539.21;SecondBestBaseQ=26;refseq.chr=chr14;refseq.end=95206547;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1548;refseq.name=NR_028288;refseq.name2=TCL6;refseq.positionType=non_coding_exon;refseq.spliceDist=16;refseq.start=95206547;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr14 95777210 . A G 154.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=9.71;MQ=98.86;MQ0=0;OQ=6247.69;QD=17.45;RankSumP=0.295570;SB=-2412.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.792A>G;refseq.codonCoord=264;refseq.end=95777210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_000623;refseq.name2=BDKRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T264T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=718;refseq.start=95777210;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr14 95799895 . A G 187.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.92;MQ0=0;OQ=2370.37;QD=13.94;RankSumP=0.402692;SB=-878.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.123A>G;refseq.codonCoord=41;refseq.end=95799895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_000710;refseq.name2=BDKRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P41P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=133;refseq.start=95799895;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr14 95825801 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.5951A>C;refseq.codonCoord=1984;refseq.end=95825801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6316;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1984P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-56;refseq.start=95825801;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr14 95831576 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=143;Dels=0.00;HRun=1;HaplotypeScore=5.79;MQ=98.86;MQ0=0;OQ=1892.17;QD=13.23;RankSumP=0.187490;SB=-505.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.5214A>G;refseq.codonCoord=1738;refseq.end=95831576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5579;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1738P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=95831576;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr14 95841712 . A G 397.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=6191.37;QD=42.70;RankSumP=1.00000;SB=-1370.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4700T>C;refseq.codonCoord=1567;refseq.end=95841712;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5065;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1567T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-34;refseq.start=95841712;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr14 95841812 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=268;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.95;MQ0=0;OQ=4740.80;QD=17.69;RankSumP=0.227497;SB=-1895.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4600A>T;refseq.codonCoord=1534;refseq.end=95841812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4965;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1534S;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=94;refseq.start=95841812;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr14 95847221 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=780;Dels=0.00;HRun=0;HaplotypeScore=25.99;MQ=98.77;MQ0=0;OQ=17270.02;QD=22.14;RankSumP=0.315086;SB=-7349.14;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4147C>G;refseq.codonCoord=1383;refseq.end=95847221;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4512;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1383E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-15;refseq.start=95847221;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 95851665 . T C 296.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=1.81;MQ=98.83;MQ0=0;OQ=4838.75;QD=42.45;RankSumP=1.00000;SB=-1512.61;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.3370A>G;refseq.codonCoord=1124;refseq.end=95851665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3735;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1124D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=95851665;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr14 95867477 . G A 326.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.60;MQ0=0;OQ=8713.85;QD=41.69;RankSumP=1.00000;SB=-4133.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1719C>T;refseq.codonCoord=573;refseq.end=95867477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2084;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H573H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-12;refseq.start=95867477;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr14 95868459 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1404A>C;refseq.codonCoord=468;refseq.end=95868459;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E468D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=42;refseq.start=95868459;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr14 95899043 . G A 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=14.01;MQ=98.49;MQ0=0;OQ=3961.01;QD=27.13;RankSumP=1.00000;SB=-964.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.24C>T;refseq.codonCoord=8;refseq.end=95899043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S8S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-139;refseq.start=95899043;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr14 95899055 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=145;Dels=0.00;HRun=0;HaplotypeScore=14.75;MQ=98.26;MQ0=0;OQ=1769.00;QD=12.20;RankSumP=0.138284;SB=-387.85;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=95899055;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_018036;refseq.name2=ATG2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-151;refseq.start=95899055;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr14 95992505 . C G 295.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=11.71;MQ=98.91;MQ0=0;OQ=6836.93;QD=22.13;RankSumP=0.141136;SB=-2962.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1167C>G;refseq.codonCoord=389;refseq.end=95992505;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1211;refseq.name=NM_152327;refseq.name2=AK7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N389K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-61;refseq.start=95992505;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr14 96064047 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.446T>G;refseq.codonCoord=149;refseq.end=96064047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=656;refseq.name=NM_032632;refseq.name2=PAPOLA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V149G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=96064047;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr14 96369606 . A G 353.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=98.84;MQ0=0;OQ=5970.28;QD=20.59;RankSumP=0.223773;SB=-2478.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.45A>G;refseq.codonCoord=15;refseq.end=96369606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_003384;refseq.name2=VRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A15A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=50;refseq.start=96369606;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr14 96391442 . C T 352.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=11.35;MQ=98.81;MQ0=0;OQ=8619.90;QD=19.46;RankSumP=2.46655e-05;SB=-2481.85;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.705C>T;refseq.codonCoord=235;refseq.end=96391442;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_003384;refseq.name2=VRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G235G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=96391442;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr14 98252379 . T C 179.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=8.74;MQ=98.73;MQ0=0;OQ=2588.96;QD=13.35;RankSumP=0.165485;SB=-1043.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.98T>C;refseq.codonCoord=33;refseq.end=98252379;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=517;refseq.name=NM_182560;refseq.name2=C14orf177;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-102;refseq.start=98252379;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr14 98710658 . G A 1.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.37;MQ0=0;OQ=126.33;QD=25.27;RankSumP=0.250000;SB=-10.00;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2055C>T;refseq.codingCoordStr_2=c.2268C>T;refseq.codonCoord_1=685;refseq.codonCoord_2=756;refseq.end_1=98710658;refseq.end_2=98710658;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2322;refseq.mrnaCoord_2=2535;refseq.name2_1=BCL11B;refseq.name2_2=BCL11B;refseq.name_1=NM_022898;refseq.name_2=NM_138576;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P685P;refseq.proteinCoordStr_2=p.P756P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=1628;refseq.spliceDist_2=1628;refseq.start_1=98710658;refseq.start_2=98710658;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=filterInsoap-gatk GT 1/0 chr14 98710788 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=4.01678e-09;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1925T>G;refseq.codingCoordStr_2=c.2138T>G;refseq.codonCoord_1=642;refseq.codonCoord_2=713;refseq.end_1=98710788;refseq.end_2=98710788;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2192;refseq.mrnaCoord_2=2405;refseq.name2_1=BCL11B;refseq.name2_2=BCL11B;refseq.name_1=NM_022898;refseq.name_2=NM_138576;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V642G;refseq.proteinCoordStr_2=p.V713G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=1498;refseq.spliceDist_2=1498;refseq.start_1=98710788;refseq.start_2=98710788;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr14 98712113 . C G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=1.48;MQ=96.26;MQ0=0;OQ=75.85;QD=9.48;RankSumP=0.698052;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.600G>C;refseq.codingCoordStr_2=c.813G>C;refseq.codonCoord_1=200;refseq.codonCoord_2=271;refseq.end_1=98712113;refseq.end_2=98712113;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=867;refseq.mrnaCoord_2=1080;refseq.name2_1=BCL11B;refseq.name2_2=BCL11B;refseq.name_1=NM_022898;refseq.name_2=NM_138576;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P200P;refseq.proteinCoordStr_2=p.P271P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.start_1=98712113;refseq.start_2=98712113;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr14 99195789 . C G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.459310;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1318C>G;refseq.codingCoordStr_2=c.1318C>G;refseq.codonCoord_1=440;refseq.codonCoord_2=440;refseq.end_1=99195789;refseq.end_2=99195789;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1383;refseq.mrnaCoord_2=1383;refseq.name2_1=HHIPL1;refseq.name2_2=HHIPL1;refseq.name_1=NM_001127258;refseq.name_2=NM_032425;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R440G;refseq.proteinCoordStr_2=p.R440G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=99195789;refseq.start_2=99195789;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr14 99445460 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.73;MQ0=0;OQ=1587.82;QD=20.62;RankSumP=0.447888;SB=-174.64;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1187C>T;refseq.codingCoordStr_2=c.1130C>T;refseq.codonCoord_1=396;refseq.codonCoord_2=377;refseq.end_1=99445460;refseq.end_2=99445460;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_2=1199;refseq.name2_1=EML1;refseq.name2_2=EML1;refseq.name_1=NM_001008707;refseq.name_2=NM_004434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A396V;refseq.proteinCoordStr_2=p.A377V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=99445460;refseq.start_2=99445460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr14 99450701 . T C 351.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.94;MQ0=0;OQ=8131.30;QD=40.25;RankSumP=1.00000;SB=-2662.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1723T>C;refseq.codingCoordStr_2=c.1666T>C;refseq.codonCoord_1=575;refseq.codonCoord_2=556;refseq.end_1=99450701;refseq.end_2=99450701;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1792;refseq.mrnaCoord_2=1735;refseq.name2_1=EML1;refseq.name2_2=EML1;refseq.name_1=NM_001008707;refseq.name_2=NM_004434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S575P;refseq.proteinCoordStr_2=p.S556P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=99450701;refseq.start_2=99450701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr14 99685418 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.04;MQ0=0;OQ=494.29;QD=8.24;RankSumP=0.551126;SB=-155.96;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.465A>G;refseq.codonCoord=155;refseq.end=99685418;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_206918;refseq.name2=DEGS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T155T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-361;refseq.start=99685418;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr14 99828799 . C A 173.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=6.22;MQ=97.82;MQ0=0;OQ=615.26;QD=14.65;RankSumP=0.595074;SB=-249.95;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.486G>T;refseq.codonCoord=162;refseq.end=99828799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_001039355;refseq.name2=SLC25A29;refseq.positionType=CDS;refseq.proteinCoordStr=p.T162T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=324;refseq.start=99828799;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr14 99829030 . C T 131.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.45;MQ0=0;OQ=836.89;QD=16.74;RankSumP=0.418944;SB=-288.29;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.255G>A;refseq.codonCoord=85;refseq.end=99829030;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_001039355;refseq.name2=SLC25A29;refseq.positionType=CDS;refseq.proteinCoordStr=p.R85R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=93;refseq.start=99829030;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr14 99864892 . G T 128.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=98.11;MQ0=0;OQ=947.81;QD=21.06;RankSumP=1.00000;SB=-159.78;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.404G>T;refseq.codonCoord=135;refseq.end=99864892;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_207117;refseq.name2=C14orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.R135L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=77;refseq.start=99864892;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr14 99871084 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=230;Dels=0.00;HRun=0;HaplotypeScore=3.55;MQ=98.37;MQ0=0;OQ=3159.27;QD=13.74;RankSumP=0.364086;SB=-1238.62;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1297G>A;refseq.codingCoordStr_2=c.1297G>A;refseq.codingCoordStr_3=c.1174G>A;refseq.codingCoordStr_4=c.1174G>A;refseq.codonCoord_1=433;refseq.codonCoord_2=433;refseq.codonCoord_3=392;refseq.codonCoord_4=392;refseq.end_1=99871084;refseq.end_2=99871084;refseq.end_3=99871084;refseq.end_4=99871084;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1678;refseq.mrnaCoord_2=1454;refseq.mrnaCoord_3=1282;refseq.mrnaCoord_4=1506;refseq.name2_1=WARS;refseq.name2_2=WARS;refseq.name2_3=WARS;refseq.name2_4=WARS;refseq.name_1=NM_004184;refseq.name_2=NM_173701;refseq.name_3=NM_213645;refseq.name_4=NM_213646;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A433T;refseq.proteinCoordStr_2=p.A433T;refseq.proteinCoordStr_3=p.A392T;refseq.proteinCoordStr_4=p.A392T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.start_1=99871084;refseq.start_2=99871084;refseq.start_3=99871084;refseq.start_4=99871084;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 0/1 chr14 99878598 . G A 280.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1889.15;QD=38.55;RankSumP=1.00000;SB=-972.29;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_1=c.1003C>T;refseq.codingCoordStr_2=c.1003C>T;refseq.codingCoordStr_3=c.880C>T;refseq.codingCoordStr_4=c.880C>T;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.codonCoord_3=294;refseq.codonCoord_4=294;refseq.end_1=99878598;refseq.end_2=99878598;refseq.end_3=99878598;refseq.end_4=99878598;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1384;refseq.mrnaCoord_2=1160;refseq.mrnaCoord_3=988;refseq.mrnaCoord_4=1212;refseq.name2_1=WARS;refseq.name2_2=WARS;refseq.name2_3=WARS;refseq.name2_4=WARS;refseq.name_1=NM_004184;refseq.name_2=NM_173701;refseq.name_3=NM_213645;refseq.name_4=NM_213646;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L335L;refseq.proteinCoordStr_2=p.L335L;refseq.proteinCoordStr_3=p.L294L;refseq.proteinCoordStr_4=p.L294L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.spliceDist_4=64;refseq.start_1=99878598;refseq.start_2=99878598;refseq.start_3=99878598;refseq.start_4=99878598;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=Intersection GT 1/1 chr14 99917276 . T C 350.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.52;MQ0=0;OQ=3436.76;QD=34.03;RankSumP=1.00000;SB=-1583.99;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.262T>C;refseq.codingCoordStr_2=c.262T>C;refseq.codonCoord_1=88;refseq.codonCoord_2=88;refseq.end_1=99917276;refseq.end_2=99917276;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=486;refseq.name2_1=WDR25;refseq.name2_2=WDR25;refseq.name_1=NM_001161476;refseq.name_2=NM_024515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W88R;refseq.proteinCoordStr_2=p.W88R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=277;refseq.spliceDist_2=277;refseq.start_1=99917276;refseq.start_2=99917276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr14 99917460 . A G 390.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.84;MQ0=0;OQ=9546.98;QD=37.59;RankSumP=1.00000;SB=-3548.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.446A>G;refseq.codingCoordStr_2=c.446A>G;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.end_1=99917460;refseq.end_2=99917460;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=539;refseq.mrnaCoord_2=670;refseq.name2_1=WDR25;refseq.name2_2=WDR25;refseq.name_1=NM_001161476;refseq.name_2=NM_024515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H149R;refseq.proteinCoordStr_2=p.H149R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-377;refseq.spliceDist_2=-377;refseq.start_1=99917460;refseq.start_2=99917460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr14 99917683 . A G 203.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=1824.07;QD=32.57;RankSumP=1.00000;SB=-752.22;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.669A>G;refseq.codingCoordStr_2=c.669A>G;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.end_1=99917683;refseq.end_2=99917683;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=893;refseq.name2_1=WDR25;refseq.name2_2=WDR25;refseq.name_1=NM_001161476;refseq.name_2=NM_024515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P223P;refseq.proteinCoordStr_2=p.P223P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-154;refseq.spliceDist_2=-154;refseq.start_1=99917683;refseq.start_2=99917683;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr14 100066065 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=363;Dels=0.00;HRun=1;HaplotypeScore=16.04;MQ=98.16;MQ0=0;OQ=5688.91;QD=15.67;RankSumP=0.00329834;SB=-1487.59;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1569T>C;refseq.codingCoordStr_2=c.1569T>C;refseq.codonCoord_1=523;refseq.codonCoord_2=523;refseq.end_1=100066065;refseq.end_2=100066065;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1662;refseq.mrnaCoord_2=1793;refseq.name2_1=WDR25;refseq.name2_2=WDR25;refseq.name_1=NM_001161476;refseq.name_2=NM_024515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y523Y;refseq.proteinCoordStr_2=p.Y523Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.start_1=100066065;refseq.start_2=100066065;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=filterInsoap-gatk GT 1/0 chr14 100074968 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=95.99;MQ0=0;OQ=438.72;QD=9.54;RankSumP=0.534560;SB=-157.23;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.873A>G;refseq.codingCoordStr_2=c.873A>G;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.end_1=100074968;refseq.end_2=100074968;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1019;refseq.mrnaCoord_2=945;refseq.name2_1=BEGAIN;refseq.name2_2=BEGAIN;refseq.name_1=NM_001159531;refseq.name_2=NM_020836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A291A;refseq.proteinCoordStr_2=p.A291A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=438;refseq.spliceDist_2=438;refseq.start_1=100074968;refseq.start_2=100074968;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr14 100074989 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=7.28;MQ=96.30;MQ0=0;OQ=349.61;QD=6.86;RankSumP=0.0577873;SB=-151.52;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.852T>C;refseq.codingCoordStr_2=c.852T>C;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.end_1=100074989;refseq.end_2=100074989;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=998;refseq.mrnaCoord_2=924;refseq.name2_1=BEGAIN;refseq.name2_2=BEGAIN;refseq.name_1=NM_001159531;refseq.name_2=NM_020836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H284H;refseq.proteinCoordStr_2=p.H284H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=417;refseq.spliceDist_2=417;refseq.start_1=100074989;refseq.start_2=100074989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr14 100268170 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=223;Dels=0.00;HRun=2;HaplotypeScore=3.01;MQ=98.67;MQ0=0;OQ=7714.35;QD=34.59;RankSumP=1.00000;SB=-2728.04;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.301A>G;refseq.codonCoord=101;refseq.end=100268170;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_003836;refseq.name2=DLK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R101G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=39;refseq.start=100268170;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr14 100270398 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=12.88;MQ=98.59;MQ0=0;OQ=2014.56;QD=10.83;RankSumP=0.229244;SB=-923.89;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.564T>C;refseq.codonCoord=188;refseq.end=100270398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_003836;refseq.name2=DLK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I188I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=160;refseq.start=100270398;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr14 100487946 . G T 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.258333;SecondBestBaseQ=23;refseq.chr=chr14;refseq.end=100487946;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1;refseq.name=NR_003194;refseq.name2=SNORD114-2;refseq.positionType=non_coding_exon;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=100487946;refseq.transcriptStrand=+;set=soap GT 0/1 chr14 100499212 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=283;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=98.82;MQ0=0;OQ=6157.60;QD=21.76;RankSumP=0.108797;SB=-1571.78;SecondBestBaseQ=32;refseq.chr=chr14;refseq.end=100499212;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=69;refseq.name=NR_003199;refseq.name2=SNORD114-7;refseq.positionType=non_coding_exon;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=100499212;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr14 100511971 . A G 119.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=435;Dels=0.00;HRun=1;HaplotypeScore=8.22;MQ=98.96;MQ0=0;OQ=18316.44;QD=42.11;RankSumP=1.00000;SB=-7217.65;SecondBestBaseQ=0;refseq.chr=chr14;refseq.end=100511971;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=57;refseq.name=NR_003211;refseq.name2=SNORD114-18;refseq.positionType=non_coding_exon;refseq.spliceDist=-15;refseq.start=100511971;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr14 100517126 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=720;Dels=0.00;HRun=1;HaplotypeScore=16.40;MQ=98.78;MQ0=0;OQ=14726.95;QD=20.45;RankSumP=0.00257816;SB=-6284.80;SecondBestBaseQ=31;refseq.chr=chr14;refseq.end=100517126;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=33;refseq.name=NR_003213;refseq.name2=SNORD114-20;refseq.positionType=non_coding_exon;refseq.spliceDist=33;refseq.start=100517126;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 1/0 chr14 101553308 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=316;Dels=0.00;HRun=2;HaplotypeScore=32.71;MQ=98.36;MQ0=0;OQ=734.97;QD=2.33;RankSumP=0.00000;SB=486.56;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.7979T>G;refseq.codonCoord=2660;refseq.end=101553308;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8143;refseq.name=NM_001376;refseq.name2=DYNC1H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2660G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-77;refseq.start=101553308;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr14 101565969 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.9703G>C;refseq.codonCoord=3235;refseq.end=101565969;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9867;refseq.name=NM_001376;refseq.name2=DYNC1H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3235P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-60;refseq.start=101565969;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr14 101620556 . G A 325.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=90.36;MQ0=0;OQ=9050.87;QD=40.77;RankSumP=1.00000;SB=-3042.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1446C>T;refseq.codingCoordStr_2=c.1080C>T;refseq.codonCoord_1=482;refseq.codonCoord_2=360;refseq.end_1=101620556;refseq.end_2=101620556;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1791;refseq.mrnaCoord_2=1270;refseq.name2_1=HSP90AA1;refseq.name2_2=HSP90AA1;refseq.name_1=NM_001017963;refseq.name_2=NM_005348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N482N;refseq.proteinCoordStr_2=p.N360N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=101620556;refseq.start_2=101620556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr14 101638049 . G A 322.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.86;MQ0=0;OQ=10214.11;QD=40.53;RankSumP=1.00000;SB=-4739.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.282C>T;refseq.codonCoord=94;refseq.end=101638049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_001017963;refseq.name2=HSP90AA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T94T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-85;refseq.start=101638049;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr14 101638120 . T A 301.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=98.10;MQ0=0;OQ=10002.88;QD=38.18;RankSumP=1.00000;SB=-4371.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.211A>T;refseq.codonCoord=71;refseq.end=101638120;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=556;refseq.name=NM_001017963;refseq.name2=HSP90AA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M71L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=56;refseq.start=101638120;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr14 101731106 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.codingCoordStr_3=c.328A>C;refseq.codingCoordStr_4=c.328A>C;refseq.codonCoord_3=110;refseq.codonCoord_4=110;refseq.end_1=101744682;refseq.end_2=101744682;refseq.end_3=101731106;refseq.end_4=101731106;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=377;refseq.mrnaCoord_4=377;refseq.name2_1=WDR20;refseq.name2_2=WDR20;refseq.name2_3=WDR20;refseq.name2_4=WDR20;refseq.name_1=NM_181308;refseq.name_2=NM_181302;refseq.name_3=NM_144574;refseq.name_4=NM_181291;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T110P;refseq.proteinCoordStr_4=p.T110P;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_3=79;refseq.spliceDist_4=79;refseq.start_1=101676273;refseq.start_2=101729576;refseq.start_3=101731106;refseq.start_4=101731106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 0/1 chr14 101884698 . G A 258.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=98.03;MQ0=0;OQ=2161.74;QD=15.90;RankSumP=0.0654048;SB=-874.97;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.588C>T;refseq.codonCoord=196;refseq.end=101884698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_032630;refseq.name2=CINP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S196S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=152;refseq.start=101884698;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr14 101884795 . C T 263.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.75;MQ0=0;OQ=2025.19;QD=15.23;RankSumP=0.363376;SB=-951.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.491G>A;refseq.codonCoord=164;refseq.end=101884795;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=556;refseq.name=NM_032630;refseq.name2=CINP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R164H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=101884795;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr14 101964346 . G A 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=2.23;MQ=96.96;MQ0=0;OQ=769.85;QD=29.61;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.958G>A;refseq.codingCoordStr_2=c.958G>A;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.end_1=101964346;refseq.end_2=101964346;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1184;refseq.mrnaCoord_2=1184;refseq.name2_1=TECPR2;refseq.name2_2=TECPR2;refseq.name_1=NM_001172631;refseq.name_2=NM_014844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V320I;refseq.proteinCoordStr_2=p.V320I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=101964346;refseq.start_2=101964346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr14 101970954 . A G 313.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.24;MQ0=0;OQ=4872.14;QD=32.70;RankSumP=1.00000;SB=-1900.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2047A>G;refseq.codingCoordStr_2=c.2047A>G;refseq.codonCoord_1=683;refseq.codonCoord_2=683;refseq.end_1=101970954;refseq.end_2=101970954;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2273;refseq.mrnaCoord_2=2273;refseq.name2_1=TECPR2;refseq.name2_2=TECPR2;refseq.name_1=NM_001172631;refseq.name_2=NM_014844;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I683V;refseq.proteinCoordStr_2=p.I683V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-348;refseq.spliceDist_2=-348;refseq.start_1=101970954;refseq.start_2=101970954;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr14 102411802 . T C 277.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.81;MQ0=0;OQ=8386.50;QD=19.78;RankSumP=0.343265;SB=-2589.12;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.386T>C;refseq.codingCoordStr_2=c.386T>C;refseq.codingCoordStr_3=c.386T>C;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.codonCoord_3=129;refseq.end_1=102411802;refseq.end_2=102411802;refseq.end_3=102411802;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=600;refseq.mrnaCoord_2=739;refseq.mrnaCoord_3=739;refseq.name2_1=TRAF3;refseq.name2_2=TRAF3;refseq.name2_3=TRAF3;refseq.name_1=NM_003300;refseq.name_2=NM_145725;refseq.name_3=NM_145726;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M129T;refseq.proteinCoordStr_2=p.M129T;refseq.proteinCoordStr_3=p.M129T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=102411802;refseq.start_2=102411802;refseq.start_3=102411802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/0 chr14 102475710 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.4817A>C;refseq.codonCoord=1606;refseq.end=102475710;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5049;refseq.name=NM_006035;refseq.name2=CDC42BPB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1606A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-11;refseq.start=102475710;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr14 102510226 . G C 116.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=1.39;MQ=98.76;MQ0=0;OQ=6747.18;QD=47.52;RankSumP=1.00000;SB=-1871.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1521C>G;refseq.codonCoord=507;refseq.end=102510226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1753;refseq.name=NM_006035;refseq.name2=CDC42BPB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L507L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=14;refseq.start=102510226;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr14 102636538 . C T 251.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.92;MQ0=0;OQ=1799.63;QD=17.14;RankSumP=0.339707;SB=-743.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.229C>T;refseq.codonCoord=77;refseq.end=102636538;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_001077594;refseq.name2=C14orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.R77W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-166;refseq.start=102636538;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr14 102636588 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=107;Dels=0.00;HRun=2;HaplotypeScore=4.69;MQ=98.71;MQ0=0;OQ=1970.95;QD=18.42;RankSumP=0.429437;SB=-884.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.279C>G;refseq.codonCoord=93;refseq.end=102636588;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_001077594;refseq.name2=C14orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.D93E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-116;refseq.start=102636588;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr14 102638367 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=97.67;MQ0=0;OQ=525.54;QD=11.94;RankSumP=0.246077;SB=-280.69;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.554T>A;refseq.codonCoord=185;refseq.end=102638367;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_001077594;refseq.name2=C14orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.L185H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=160;refseq.start=102638367;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr14 102638482 . A G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.466667;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.669A>G;refseq.codonCoord=223;refseq.end=102638482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=745;refseq.name=NM_001077594;refseq.name2=C14orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.E223E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=275;refseq.start=102638482;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr14 102646168 . A G 51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.02;MQ0=0;OQ=1058.70;QD=28.61;RankSumP=1.00000;SB=-312.57;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.2024A>G;refseq.codonCoord=675;refseq.end=102646168;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2100;refseq.name=NM_001077594;refseq.name2=C14orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q675R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=48;refseq.start=102646168;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr14 102663703 . C G 137.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=776.92;QD=37.00;RankSumP=1.00000;SB=-211.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.844C>G;refseq.codonCoord=282;refseq.end=102663703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=975;refseq.name=NM_006291;refseq.name2=TNFAIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q282E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-17;refseq.start=102663703;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr14 102941208 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.94A>C;refseq.codingCoordStr_2=c.94A>C;refseq.codingCoordStr_3=c.94A>C;refseq.codingCoordStr_4=c.94A>C;refseq.codingCoordStr_5=c.94A>C;refseq.codonCoord_1=32;refseq.codonCoord_2=32;refseq.codonCoord_3=32;refseq.codonCoord_4=32;refseq.codonCoord_5=32;refseq.end_1=102941208;refseq.end_2=102941208;refseq.end_3=102941208;refseq.end_4=102941208;refseq.end_5=102941208;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=760;refseq.mrnaCoord_2=760;refseq.mrnaCoord_3=760;refseq.mrnaCoord_4=760;refseq.mrnaCoord_5=760;refseq.name2_1=MARK3;refseq.name2_2=MARK3;refseq.name2_3=MARK3;refseq.name2_4=MARK3;refseq.name2_5=MARK3;refseq.name_1=NM_001128918;refseq.name_2=NM_001128919;refseq.name_3=NM_001128920;refseq.name_4=NM_001128921;refseq.name_5=NM_002376;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T32P;refseq.proteinCoordStr_2=p.T32P;refseq.proteinCoordStr_3=p.T32P;refseq.proteinCoordStr_4=p.T32P;refseq.proteinCoordStr_5=p.T32P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.spliceDist_5=43;refseq.start_1=102941208;refseq.start_2=102941208;refseq.start_3=102941208;refseq.start_4=102941208;refseq.start_5=102941208;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr14 103004241 . T C 230.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=12.85;MQ=98.79;MQ0=0;OQ=14478.83;QD=40.33;RankSumP=1.00000;SB=-6024.05;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1229T>C;refseq.codingCoordStr_2=c.1229T>C;refseq.codingCoordStr_3=c.1181T>C;refseq.codingCoordStr_4=c.992T>C;refseq.codingCoordStr_5=c.1229T>C;refseq.codonCoord_1=410;refseq.codonCoord_2=410;refseq.codonCoord_3=394;refseq.codonCoord_4=331;refseq.codonCoord_5=410;refseq.end_1=103004241;refseq.end_2=103004241;refseq.end_3=103004241;refseq.end_4=103004241;refseq.end_5=103004241;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1895;refseq.mrnaCoord_2=1895;refseq.mrnaCoord_3=1847;refseq.mrnaCoord_4=1658;refseq.mrnaCoord_5=1895;refseq.name2_1=MARK3;refseq.name2_2=MARK3;refseq.name2_3=MARK3;refseq.name2_4=MARK3;refseq.name2_5=MARK3;refseq.name_1=NM_001128918;refseq.name_2=NM_001128919;refseq.name_3=NM_001128920;refseq.name_4=NM_001128921;refseq.name_5=NM_002376;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.F410S;refseq.proteinCoordStr_2=p.F410S;refseq.proteinCoordStr_3=p.F394S;refseq.proteinCoordStr_4=p.F331S;refseq.proteinCoordStr_5=p.F410S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.referenceCodon_4=TTT;refseq.referenceCodon_5=TTT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.spliceDist_4=-36;refseq.spliceDist_5=-36;refseq.start_1=103004241;refseq.start_2=103004241;refseq.start_3=103004241;refseq.start_4=103004241;refseq.start_5=103004241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;set=Intersection GT 1/1 chr14 103011216 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1398T>C;refseq.codingCoordStr_2=c.1398T>C;refseq.codingCoordStr_3=c.1350T>C;refseq.codingCoordStr_4=c.1161T>C;refseq.codingCoordStr_5=c.1398T>C;refseq.codonCoord_1=466;refseq.codonCoord_2=466;refseq.codonCoord_3=450;refseq.codonCoord_4=387;refseq.codonCoord_5=466;refseq.end_1=103011216;refseq.end_2=103011216;refseq.end_3=103011216;refseq.end_4=103011216;refseq.end_5=103011216;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2064;refseq.mrnaCoord_2=2064;refseq.mrnaCoord_3=2016;refseq.mrnaCoord_4=1827;refseq.mrnaCoord_5=2064;refseq.name2_1=MARK3;refseq.name2_2=MARK3;refseq.name2_3=MARK3;refseq.name2_4=MARK3;refseq.name2_5=MARK3;refseq.name_1=NM_001128918;refseq.name_2=NM_001128919;refseq.name_3=NM_001128920;refseq.name_4=NM_001128921;refseq.name_5=NM_002376;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A466A;refseq.proteinCoordStr_2=p.A466A;refseq.proteinCoordStr_3=p.A450A;refseq.proteinCoordStr_4=p.A387A;refseq.proteinCoordStr_5=p.A466A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=-85;refseq.spliceDist_2=-85;refseq.spliceDist_3=-85;refseq.spliceDist_4=-85;refseq.spliceDist_5=-85;refseq.start_1=103011216;refseq.start_2=103011216;refseq.start_3=103011216;refseq.start_4=103011216;refseq.start_5=103011216;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=FilteredInAll GT 1/0 chr14 103028020 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_1=c.1740T>C;refseq.codingCoordStr_2=c.1740T>C;refseq.codingCoordStr_3=c.1692T>C;refseq.codingCoordStr_4=c.1503T>C;refseq.codingCoordStr_5=c.1740T>C;refseq.codonCoord_1=580;refseq.codonCoord_2=580;refseq.codonCoord_3=564;refseq.codonCoord_4=501;refseq.codonCoord_5=580;refseq.end_1=103028020;refseq.end_2=103028020;refseq.end_3=103028020;refseq.end_4=103028020;refseq.end_5=103028020;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2406;refseq.mrnaCoord_2=2406;refseq.mrnaCoord_3=2358;refseq.mrnaCoord_4=2169;refseq.mrnaCoord_5=2406;refseq.name2_1=MARK3;refseq.name2_2=MARK3;refseq.name2_3=MARK3;refseq.name2_4=MARK3;refseq.name2_5=MARK3;refseq.name_1=NM_001128918;refseq.name_2=NM_001128919;refseq.name_3=NM_001128920;refseq.name_4=NM_001128921;refseq.name_5=NM_002376;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P580P;refseq.proteinCoordStr_2=p.P580P;refseq.proteinCoordStr_3=p.P564P;refseq.proteinCoordStr_4=p.P501P;refseq.proteinCoordStr_5=p.P580P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.spliceDist_1=-105;refseq.spliceDist_2=-105;refseq.spliceDist_3=-105;refseq.spliceDist_4=-105;refseq.spliceDist_5=-105;refseq.start_1=103028020;refseq.start_2=103028020;refseq.start_3=103028020;refseq.start_4=103028020;refseq.start_5=103028020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr14 103056008 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=98.29;MQ0=0;OQ=817.47;QD=15.72;RankSumP=0.565679;SB=-299.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1092G>A;refseq.codonCoord=364;refseq.end=103056008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_001823;refseq.name2=CKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E364E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=125;refseq.start=103056008;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr14 103057933 . G T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=94.08;MQ0=0;OQ=100.87;QD=8.41;RankSumP=0.534632;SB=-10.00;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.456C>A;refseq.codonCoord=152;refseq.end=103057933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_001823;refseq.name2=CKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R152R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-26;refseq.start=103057933;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr14 103066149 . G A 208.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=13.20;MQ=98.33;MQ0=0;OQ=6743.88;QD=38.54;RankSumP=1.00000;SB=-3224.15;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.81G>A;refseq.codonCoord=27;refseq.end=103066149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_152307;refseq.name2=TRMT61A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A27A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=110;refseq.start=103066149;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr14 103099131 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.500000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.79C>G;refseq.codonCoord=27;refseq.end=103099131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=80;refseq.name=NM_032374;refseq.name2=C14orf153;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=80;refseq.start=103099131;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr14 103235506 . G A 109.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=288.89;QD=14.44;RankSumP=0.568072;SB=-37.51;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.chr_4=chr14;refseq.chr_5=chr14;refseq.codingCoordStr_3=c.722C>T;refseq.codingCoordStr_4=c.722C>T;refseq.codingCoordStr_5=c.722C>T;refseq.codonCoord_3=241;refseq.codonCoord_4=241;refseq.codonCoord_5=241;refseq.end_1=103236734;refseq.end_2=103236734;refseq.end_3=103235506;refseq.end_4=103235506;refseq.end_5=103235506;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=1045;refseq.mrnaCoord_4=1139;refseq.mrnaCoord_5=1102;refseq.name2_1=KLC1;refseq.name2_2=KLC1;refseq.name2_3=XRCC3;refseq.name2_4=XRCC3;refseq.name2_5=XRCC3;refseq.name_1=NM_182923;refseq.name_2=NM_001130107;refseq.name_3=NM_001100118;refseq.name_4=NM_001100119;refseq.name_5=NM_005432;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.T241M;refseq.proteinCoordStr_4=p.T241M;refseq.proteinCoordStr_5=p.T241M;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_3=-53;refseq.spliceDist_4=-53;refseq.spliceDist_5=-53;refseq.start_1=103215646;refseq.start_2=103223312;refseq.start_3=103235506;refseq.start_4=103235506;refseq.start_5=103235506;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;set=Intersection GT 1/0 chr14 103263949 . C G 248.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.84;MQ0=0;OQ=4853.68;QD=44.53;RankSumP=1.00000;SB=-1894.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.303C>G;refseq.codonCoord=101;refseq.end=103263949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_024071;refseq.name2=ZFYVE21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L101L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-56;refseq.start=103263949;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr14 103269109 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=19.25;MQ=98.92;MQ0=0;OQ=6462.74;QD=16.96;RankSumP=0.196186;SB=-2161.99;SecondBestBaseQ=30;refseq.chr=chr14;refseq.codingCoordStr=c.*1C>T;refseq.end=103269109;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=740;refseq.name=NM_024071;refseq.name2=ZFYVE21;refseq.positionType=utr3;refseq.spliceDist=37;refseq.start=103269109;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr14 103278753 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.77;MQ0=0;OQ=1396.14;QD=12.93;RankSumP=0.470344;SB=-685.70;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.1311G>A;refseq.codonCoord=437;refseq.end=103278753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_015316;refseq.name2=PPP1R13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T437T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=103278753;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr14 103289121 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.797T>G;refseq.codonCoord=266;refseq.end=103289121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_015316;refseq.name2=PPP1R13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V266G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-32;refseq.start=103289121;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr14 103293789 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.407C>G;refseq.codonCoord=136;refseq.end=103293789;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_015316;refseq.name2=PPP1R13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A136G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-50;refseq.start=103293789;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr14 104125676 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.262A>C;refseq.codonCoord=88;refseq.end=104125676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_001008404;refseq.name2=C14orf180;refseq.positionType=CDS;refseq.proteinCoordStr=p.T88P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-16;refseq.start=104125676;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr14 104141836 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=93.24;MQ0=0;OQ=451.09;QD=12.89;RankSumP=0.0329708;SB=-214.60;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.288C>A;refseq.codonCoord=96;refseq.end=104141836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_207379;refseq.name2=TMEM179;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-18;refseq.start=104141836;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr14 104238852 . C T 119.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=95.39;MQ0=0;OQ=753.59;QD=30.14;RankSumP=1.00000;SB=-356.35;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.chr_3=chr14;refseq.codingCoordStr_1=c.105C>T;refseq.codingCoordStr_2=c.105C>T;refseq.codingCoordStr_3=c.105C>T;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.codonCoord_3=35;refseq.end_1=104238852;refseq.end_2=104238852;refseq.end_3=104238852;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=248;refseq.mrnaCoord_2=248;refseq.mrnaCoord_3=233;refseq.name2_1=INF2;refseq.name2_2=INF2;refseq.name2_3=INF2;refseq.name_1=NM_001031714;refseq.name_2=NM_022489;refseq.name_3=NM_032714;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P35P;refseq.proteinCoordStr_2=p.P35P;refseq.proteinCoordStr_3=p.P35P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.spliceDist_3=114;refseq.start_1=104238852;refseq.start_2=104238852;refseq.start_3=104238852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr14 104532112 . C T 298.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=6.84;MQ=98.81;MQ0=0;OQ=6574.42;QD=40.09;RankSumP=1.00000;SB=-3059.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.949C>T;refseq.codonCoord=317;refseq.end=104532112;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_174891;refseq.name2=C14orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.L317L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=133;refseq.start=104532112;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr14 104549147 . G A 456.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.27;MQ0=0;OQ=6024.78;QD=38.62;RankSumP=1.00000;SB=-2079.71;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.165C>T;refseq.codingCoordStr_2=c.165C>T;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.end_1=104549147;refseq.end_2=104549147;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=261;refseq.mrnaCoord_2=261;refseq.name2_1=CDCA4;refseq.name2_2=CDCA4;refseq.name_1=NM_017955;refseq.name_2=NM_145701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N55N;refseq.proteinCoordStr_2=p.N55N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=171;refseq.spliceDist_2=171;refseq.start_1=104549147;refseq.start_2=104549147;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr14 104680380 . A G 74.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.24;MQ0=0;OQ=3835.11;QD=30.20;RankSumP=1.00000;SB=-1920.62;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3414T>C;refseq.codingCoordStr_2=c.3300T>C;refseq.codonCoord_1=1138;refseq.codonCoord_2=1100;refseq.end_1=104680380;refseq.end_2=104680380;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3818;refseq.mrnaCoord_2=3704;refseq.name2_1=JAG2;refseq.name2_2=JAG2;refseq.name_1=NM_002226;refseq.name_2=NM_145159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1138I;refseq.proteinCoordStr_2=p.I1100I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.start_1=104680380;refseq.start_2=104680380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr14 104682327 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=99.00;MQ0=0;OQ=1252.36;QD=30.55;RankSumP=1.00000;SB=-487.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.3069T>C;refseq.codingCoordStr_2=c.2955T>C;refseq.codonCoord_1=1023;refseq.codonCoord_2=985;refseq.end_1=104682327;refseq.end_2=104682327;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3473;refseq.mrnaCoord_2=3359;refseq.name2_1=JAG2;refseq.name2_2=JAG2;refseq.name_1=NM_002226;refseq.name_2=NM_145159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1023A;refseq.proteinCoordStr_2=p.A985A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=104682327;refseq.start_2=104682327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr14 104686693 . C T 119.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=10.03;MQ=98.97;MQ0=0;OQ=4103.02;QD=33.36;RankSumP=1.00000;SB=-1319.71;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1612G>A;refseq.codingCoordStr_2=c.1498G>A;refseq.codonCoord_1=538;refseq.codonCoord_2=500;refseq.end_1=104686693;refseq.end_2=104686693;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2016;refseq.mrnaCoord_2=1902;refseq.name2_1=JAG2;refseq.name2_2=JAG2;refseq.name_1=NM_002226;refseq.name_2=NM_145159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D538N;refseq.proteinCoordStr_2=p.D500N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=104686693;refseq.start_2=104686693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr14 104688087 . C T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=1;RankSumP=0.726190;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1501G>A;refseq.codingCoordStr_2=c.1387G>A;refseq.codonCoord_1=501;refseq.codonCoord_2=463;refseq.end_1=104688087;refseq.end_2=104688087;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1905;refseq.mrnaCoord_2=1791;refseq.name2_1=JAG2;refseq.name2_2=JAG2;refseq.name_1=NM_002226;refseq.name_2=NM_145159;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E501K;refseq.proteinCoordStr_2=p.E463K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=104688087;refseq.start_2=104688087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=soap GT 0/1 chr14 104747960 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.2007T>G;refseq.codingCoordStr_2=c.1395T>G;refseq.codonCoord_1=669;refseq.codonCoord_2=465;refseq.end_1=104747960;refseq.end_2=104747960;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2370;refseq.mrnaCoord_2=2278;refseq.name2_1=BRF1;refseq.name2_2=BRF1;refseq.name_1=NM_001519;refseq.name_2=NM_145685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C669W;refseq.proteinCoordStr_2=p.C465W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=104747960;refseq.start_2=104747960;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr14 104759127 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=95.65;MQ0=0;OQ=415.48;QD=13.40;RankSumP=0.705182;SB=-39.51;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1218G>A;refseq.codingCoordStr_2=c.606G>A;refseq.codonCoord_1=406;refseq.codonCoord_2=202;refseq.end_1=104759127;refseq.end_2=104759127;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1581;refseq.mrnaCoord_2=1489;refseq.name2_1=BRF1;refseq.name2_2=BRF1;refseq.name_1=NM_001519;refseq.name_2=NM_145685;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P406P;refseq.proteinCoordStr_2=p.P202P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=104759127;refseq.start_2=104759127;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr14 104787619 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=4.76;MQ=97.53;MQ0=0;OQ=1512.89;QD=11.29;RankSumP=0.0614557;SB=-708.57;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_2=c.1023C>T;refseq.codonCoord_2=341;refseq.end_1=104789878;refseq.end_2=104787619;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1131;refseq.name2_1=BRF1;refseq.name2_2=BTBD6;refseq.name_1=NM_001519;refseq.name_2=NM_033271;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F341F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=598;refseq.start_1=104778807;refseq.start_2=104787619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr14 104919303 . G A 23.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.47;MQ0=0;QD=2.92;RankSumP=0.0666667;SB=-37.63;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr14;refseq.chr_2=chr14;refseq.codingCoordStr_1=c.1276G>A;refseq.codingCoordStr_2=c.1276G>A;refseq.codonCoord_1=426;refseq.codonCoord_2=426;refseq.end_1=104919303;refseq.end_2=104919303;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1451;refseq.mrnaCoord_2=1451;refseq.name2_1=PACS2;refseq.name2_2=PACS2;refseq.name_1=NM_001100913;refseq.name_2=NM_015197;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G426R;refseq.proteinCoordStr_2=p.G426R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=104919303;refseq.start_2=104919303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 1/0 chr14 104987465 . C T 370.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=2224.07;QD=37.70;RankSumP=1.00000;SB=-700.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr14;refseq.codingCoordStr=c.267C>T;refseq.codonCoord=89;refseq.end=104987465;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_004689;refseq.name2=MTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N89N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=26;refseq.start=104987465;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr14 105006869 . G A 311.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2766.32;QD=41.29;RankSumP=1.00000;SB=-1258.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr14;refseq.codingCoordStr=c.1834G>A;refseq.codonCoord=612;refseq.end=105006869;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2021;refseq.name=NM_004689;refseq.name2=MTA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A612T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-12;refseq.start=105006869;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr14 105024640 . T C 46.56 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.28;RankSumP=1.00000;SB=-45.69;SecondBestBaseQ=0;refseq.chr=chr14;refseq.codingCoordStr=c.-2T>C;refseq.end=105024640;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=113;refseq.name=NM_001311;refseq.name2=CRIP1;refseq.positionType=utr5;refseq.spliceDist=-42;refseq.start=105024640;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chr15 18911300 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;set=FilteredInAll GT 1/1 chr15 19305316 . C T 298.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=94.29;MQ0=0;OQ=8394.30;QD=42.18;RankSumP=1.00000;SB=-3651.79;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1702G>A;refseq.codonCoord=568;refseq.end=19305316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2069;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A568T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-64;refseq.start=19305316;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr15 19305414 . A T 120.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=7.82;MQ=45.30;MQ0=29;OQ=12082.84;QD=37.52;RankSumP=0.470077;SB=-5325.11;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1604T>A;refseq.codonCoord=535;refseq.end=19305414;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M535K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=71;refseq.start=19305414;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr15 19305429 . C T 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.214348;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1589G>A;refseq.codonCoord=530;refseq.end=19305429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R530Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=56;refseq.start=19305429;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr15 19305436 . T C 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.362915;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1582A>G;refseq.codonCoord=528;refseq.end=19305436;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1949;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M528V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=49;refseq.start=19305436;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr15 19307169 . T C 274.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.74;MQ0=79;OQ=3568.91;QD=20.63;RankSumP=1.00000;SB=-727.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1531A>G;refseq.codonCoord=511;refseq.end=19307169;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1898;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.K511E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=19307169;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 19331011 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=20.91;MQ=36.00;MQ0=231;OQ=1281.09;QD=3.34;RankSumP=0.0908790;SB=-226.43;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.749A>G;refseq.codonCoord=250;refseq.end=19331011;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1116;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E250G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-62;refseq.start=19331011;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr15 19331070 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=670;Dels=0.00;HRun=1;HaplotypeScore=53.78;MQ=54.94;MQ0=55;OQ=14063.36;QD=20.99;RankSumP=0.416728;SB=-5892.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.690T>C;refseq.codonCoord=230;refseq.end=19331070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A230A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=54;refseq.start=19331070;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr15 19335953 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=839;Dels=0.00;HRun=0;HaplotypeScore=15.60;MQ=23.28;MQ0=111;OQ=5850.85;QD=6.97;RankSumP=0.0906439;SB=-2135.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.348C>T;refseq.codonCoord=116;refseq.end=19335953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N116N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-174;refseq.start=19335953;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr15 19336039 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=13.53;MQ=30.97;MQ0=18;OQ=1845.96;QD=3.67;RankSumP=0.349395;SB=-487.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.262A>G;refseq.codonCoord=88;refseq.end=19336039;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.N88D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-260;refseq.start=19336039;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr15 19336043 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=465;Dels=0.00;HRun=0;HaplotypeScore=13.60;MQ=31.79;MQ0=14;OQ=1350.89;QD=2.91;RankSumP=0.342233;SB=-262.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.258T>C;refseq.codonCoord=86;refseq.end=19336043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.H86H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-264;refseq.start=19336043;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr15 19336104 . T C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.647794;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.197A>G;refseq.codonCoord=66;refseq.end=19336104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=564;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.H66R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-325;refseq.start=19336104;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr15 19336109 . A C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.669118;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.192T>G;refseq.codonCoord=64;refseq.end=19336109;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.C64W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-330;refseq.start=19336109;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr15 19336133 . C T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=588;Dels=0.00;HRun=0;HaplotypeScore=19.32;MQ=25.51;MQ0=90;OQ=645.81;QD=1.10;RankSumP=0.0168253;SB=-268.59;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.168G>A;refseq.codonCoord=56;refseq.end=19336133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T56T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-354;refseq.start=19336133;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr15 19336174 . T C 89 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=720;Dels=0.00;HRun=0;HaplotypeScore=36.81;MQ=18.46;MQ0=414;OQ=1104.18;QD=1.53;RankSumP=0.00178693;SB=-499.71;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.127A>G;refseq.codonCoord=43;refseq.end=19336174;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_207355;refseq.name2=POTEB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M43V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-395;refseq.start=19336174;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr15 19870226 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=486;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=94.97;MQ0=0;OQ=21045.24;QD=43.30;RankSumP=1.00000;SB=-10102.19;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.287G>A;refseq.codonCoord_2=96;refseq.end_1=19870226;refseq.end_2=19870226;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=385;refseq.name2_1=LOC727924;refseq.name2_2=OR4M2;refseq.name_1=NR_015416;refseq.name_2=NM_001004719;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G96E;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=55;refseq.spliceDist_2=385;refseq.start_1=19870226;refseq.start_2=19870226;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr15 19870269 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=12.44;MQ=97.09;MQ0=0;OQ=20314.92;QD=43.04;RankSumP=1.00000;SB=-10049.17;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.330G>A;refseq.codonCoord_2=110;refseq.end_1=19870269;refseq.end_2=19870269;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1362;refseq.mrnaCoord_2=428;refseq.name2_1=LOC727924;refseq.name2_2=OR4M2;refseq.name_1=NR_015416;refseq.name_2=NM_001004719;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S110S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=98;refseq.spliceDist_2=428;refseq.start_1=19870269;refseq.start_2=19870269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr15 19870612 . T C 133.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=717;Dels=0.00;HRun=0;HaplotypeScore=15.26;MQ=26.55;MQ0=409;OQ=11210.29;QD=15.63;RankSumP=1.00000;SB=-4127.93;SecondBestBaseQ=21;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.673T>C;refseq.codonCoord_2=225;refseq.end_1=19872351;refseq.end_2=19870612;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=771;refseq.name2_1=LOC727924;refseq.name2_2=OR4M2;refseq.name_1=NR_015416;refseq.name_2=NM_001004719;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F225L;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=-314;refseq.start_1=19870427;refseq.start_2=19870612;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr15 19884019 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=911;Dels=0.00;HRun=0;HaplotypeScore=7.74;MQ=30.47;MQ0=598;OQ=2114.62;QD=2.32;RankSumP=0.0713372;SB=-577.48;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.183A>C;refseq.codonCoord=61;refseq.end=19884019;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L61F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=183;refseq.start=19884019;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr15 19884068 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=759;Dels=0.00;HRun=1;HaplotypeScore=13.12;MQ=26.74;MQ0=418;OQ=5175.18;QD=6.82;RankSumP=0.367635;SB=-2195.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.232G>C;refseq.codonCoord=78;refseq.end=19884068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A78P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=232;refseq.start=19884068;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr15 19884092 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=1;HaplotypeScore=25.65;MQ=28.74;MQ0=302;OQ=2215.05;QD=4.13;RankSumP=0.280638;SB=-832.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.256C>T;refseq.codonCoord=86;refseq.end=19884092;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L86F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=256;refseq.start=19884092;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr15 19884103 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=30.45;MQ0=299;OQ=3358.40;QD=7.94;RankSumP=1.00000;SB=-1281.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.267A>G;refseq.codonCoord=89;refseq.end=19884103;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K89K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=267;refseq.start=19884103;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr15 19884185 . G C 213.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=528;Dels=0.00;HRun=0;HaplotypeScore=12.48;MQ=68.33;MQ0=189;OQ=8877.49;QD=16.81;RankSumP=0.464758;SB=-1995.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.349G>C;refseq.codonCoord=117;refseq.end=19884185;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V117L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=349;refseq.start=19884185;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr15 19884192 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=570;Dels=0.00;HRun=0;HaplotypeScore=21.21;MQ=72.80;MQ0=169;OQ=7923.24;QD=13.90;RankSumP=0.00105763;SB=-1774.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.356C>A;refseq.codonCoord=119;refseq.end=19884192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=356;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=356;refseq.start=19884192;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/0 chr15 19884261 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=675;Dels=0.00;HRun=0;HaplotypeScore=19.89;MQ=82.32;MQ0=43;OQ=11753.21;QD=17.41;RankSumP=0.0445457;SB=-4852.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.425A>G;refseq.codonCoord=142;refseq.end=19884261;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=425;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y142C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=425;refseq.start=19884261;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr15 19884428 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=69.95;MQ0=70;OQ=2972.94;QD=8.93;RankSumP=0.00215324;SB=-1249.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.592C>A;refseq.codonCoord=198;refseq.end=19884428;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L198I;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-360;refseq.start=19884428;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=filterInsoap-gatk GT 1/0 chr15 19884430 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=70.56;MQ0=68;OQ=4390.58;QD=13.03;RankSumP=0.352598;SB=-1221.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.594A>G;refseq.codonCoord=198;refseq.end=19884430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_001005241;refseq.name2=OR4N4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L198L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-358;refseq.start=19884430;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr15 20387380 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.170A>C;refseq.codingCoordStr_2=c.170A>C;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=20387380;refseq.end_2=20387380;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=300;refseq.name2_1=TUBGCP5;refseq.name2_2=TUBGCP5;refseq.name_1=NM_001102610;refseq.name_2=NM_052903;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N57T;refseq.proteinCoordStr_2=p.N57T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=20387380;refseq.start_2=20387380;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr15 20513770 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.864A>G;refseq.codingCoordStr_2=c.2157A>G;refseq.codonCoord_1=288;refseq.codonCoord_2=719;refseq.end_1=20513770;refseq.end_2=20513770;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1166;refseq.mrnaCoord_2=2261;refseq.name2_1=CYFIP1;refseq.name2_2=CYFIP1;refseq.name_1=NM_001033028;refseq.name_2=NM_014608;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G288G;refseq.proteinCoordStr_2=p.G719G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=20513770;refseq.start_2=20513770;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 20557887 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.858C>T;refseq.codingCoordStr_2=c.858C>T;refseq.codingCoordStr_3=c.801C>T;refseq.codingCoordStr_4=c.858C>T;refseq.codonCoord_1=286;refseq.codonCoord_2=286;refseq.codonCoord_3=267;refseq.codonCoord_4=286;refseq.end_1=20557887;refseq.end_2=20557887;refseq.end_3=20557887;refseq.end_4=20557887;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1349;refseq.mrnaCoord_2=1213;refseq.mrnaCoord_3=1156;refseq.mrnaCoord_4=1471;refseq.name2_1=NIPA2;refseq.name2_2=NIPA2;refseq.name2_3=NIPA2;refseq.name2_4=NIPA2;refseq.name_1=NM_001008860;refseq.name_2=NM_001008892;refseq.name_3=NM_001008894;refseq.name_4=NM_030922;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F286F;refseq.proteinCoordStr_2=p.F286F;refseq.proteinCoordStr_3=p.F267F;refseq.proteinCoordStr_4=p.F286F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=410;refseq.spliceDist_2=410;refseq.spliceDist_3=410;refseq.spliceDist_4=410;refseq.start_1=20557887;refseq.start_2=20557887;refseq.start_3=20557887;refseq.start_4=20557887;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=FilteredInAll GT 1/0 chr15 20565926 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=122;Dels=0.00;HRun=2;HaplotypeScore=20.17;MQ=97.36;MQ0=0;OQ=187.40;QD=1.54;RankSumP=0.00000;SB=173.59;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.240A>C;refseq.codingCoordStr_2=c.240A>C;refseq.codingCoordStr_3=c.183A>C;refseq.codingCoordStr_4=c.240A>C;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.codonCoord_3=61;refseq.codonCoord_4=80;refseq.end_1=20565926;refseq.end_2=20565926;refseq.end_3=20565926;refseq.end_4=20565926;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=731;refseq.mrnaCoord_2=595;refseq.mrnaCoord_3=538;refseq.mrnaCoord_4=853;refseq.name2_1=NIPA2;refseq.name2_2=NIPA2;refseq.name2_3=NIPA2;refseq.name2_4=NIPA2;refseq.name_1=NM_001008860;refseq.name_2=NM_001008892;refseq.name_3=NM_001008894;refseq.name_4=NM_030922;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A80A;refseq.proteinCoordStr_2=p.A80A;refseq.proteinCoordStr_3=p.A61A;refseq.proteinCoordStr_4=p.A80A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.start_1=20565926;refseq.start_2=20565926;refseq.start_3=20565926;refseq.start_4=20565926;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr15 20604073 . T C 260.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=11.44;MQ=98.73;MQ0=0;OQ=8133.28;QD=38.73;RankSumP=1.00000;SB=-3840.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.216A>G;refseq.codingCoordStr_2=c.441A>G;refseq.codonCoord_1=72;refseq.codonCoord_2=147;refseq.end_1=20604073;refseq.end_2=20604073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=287;refseq.mrnaCoord_2=466;refseq.name2_1=NIPA1;refseq.name2_2=NIPA1;refseq.name_1=NM_001142275;refseq.name_2=NM_144599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T72T;refseq.proteinCoordStr_2=p.T147T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=20604073;refseq.start_2=20604073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr15 20612340 . A C 24 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=9.62635e-07;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.8T>G;refseq.codingCoordStr_2=c.233T>G;refseq.codonCoord_1=3;refseq.codonCoord_2=78;refseq.end_1=20612340;refseq.end_2=20612340;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=79;refseq.mrnaCoord_2=258;refseq.name2_1=NIPA1;refseq.name2_2=NIPA1;refseq.name_1=NM_001142275;refseq.name_2=NM_144599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V3G;refseq.proteinCoordStr_2=p.V78G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=20612340;refseq.start_2=20612340;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr15 20996764 . G T 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chr15;refseq.end=20996764;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=2169;refseq.name=NR_033350;refseq.name2=GOLGA8E;refseq.positionType=non_coding_exon;refseq.spliceDist=46;refseq.start=20996764;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chr15 20996889 . A G 27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=674;Dels=0.00;HRun=1;HaplotypeScore=18.28;MQ=11.53;MQ0=496;OQ=3031.23;QD=4.50;RankSumP=1.00000;SB=-656.19;SecondBestBaseQ=18;refseq.chr=chr15;refseq.end=20996889;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=2294;refseq.name=NR_033350;refseq.name2=GOLGA8E;refseq.positionType=non_coding_exon;refseq.spliceDist=171;refseq.start=20996889;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr15 21483031 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.427A>C;refseq.codonCoord=143;refseq.end=21483031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_002487;refseq.name2=NDN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T143P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=513;refseq.start=21483031;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 22850476 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=572;Dels=0.00;HRun=0;HaplotypeScore=27.46;MQ=93.84;MQ0=11;OQ=10673.17;QD=18.66;RankSumP=0.0708083;SB=-3669.69;SecondBestBaseQ=31;refseq.chr=chr15;refseq.end=22850476;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=28;refseq.name=NR_003317;refseq.name2=SNORD116-2;refseq.positionType=non_coding_exon;refseq.spliceDist=28;refseq.start=22850476;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr15 22858655 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=530;Dels=0.00;HRun=1;HaplotypeScore=27.36;MQ=61.44;MQ0=189;OQ=12617.20;QD=23.81;RankSumP=1.00000;SB=-5287.31;SecondBestBaseQ=0;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.end_1=22858655;refseq.end_2=22858655;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=84;refseq.mrnaCoord_2=84;refseq.name2_1=SNORD116-5;refseq.name2_2=SNORD116-7;refseq.name_1=NR_003320;refseq.name_2=NR_003322;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=22858655;refseq.start_2=22858655;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr15 22881643 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=636;Dels=0.00;HRun=0;HaplotypeScore=14.74;MQ=83.61;MQ0=75;OQ=9811.69;QD=15.43;RankSumP=0.432307;SB=-3477.23;SecondBestBaseQ=33;refseq.chr=chr15;refseq.end=22881643;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=20;refseq.name=NR_003333;refseq.name2=SNORD116-18;refseq.positionType=non_coding_exon;refseq.spliceDist=20;refseq.start=22881643;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr15 22975049 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=997;Dels=0.00;HRun=0;HaplotypeScore=34.17;MQ=80.79;MQ0=133;OQ=15130.82;QD=15.18;RankSumP=0.344165;SB=-4628.72;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.end_1=22975049;refseq.end_2=22975049;refseq.end_3=22975049;refseq.end_4=22975049;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.mrnaCoord_1=72;refseq.mrnaCoord_2=69;refseq.mrnaCoord_3=69;refseq.mrnaCoord_4=69;refseq.name2_1=SNORD115-5;refseq.name2_2=SNORD115-9;refseq.name2_3=SNORD115-10;refseq.name2_4=SNORD115-12;refseq.name_1=NR_003297;refseq.name_2=NR_003301;refseq.name_3=NR_003302;refseq.name_4=NR_003304;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.spliceDist_4=-11;refseq.start_1=22975049;refseq.start_2=22975049;refseq.start_3=22975049;refseq.start_4=22975049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=Intersection GT 0/1 chr15 22980551 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=775;Dels=0.00;HRun=0;HaplotypeScore=42.71;MQ=91.03;MQ0=12;OQ=12797.80;QD=16.51;RankSumP=0.0744101;SB=-4990.10;SecondBestBaseQ=24;refseq.chr=chr15;refseq.end=22980551;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=6;refseq.name=NR_003300;refseq.name2=SNORD115-8;refseq.positionType=non_coding_exon;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=22980551;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr15 22989586 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1074;Dels=0.00;HRun=0;HaplotypeScore=27.41;MQ=85.73;MQ0=88;OQ=19370.82;QD=18.04;RankSumP=0.163172;SB=-8167.62;SecondBestBaseQ=32;refseq.chr=chr15;refseq.end=22989586;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=26;refseq.name=NR_003305;refseq.name2=SNORD115-13;refseq.positionType=non_coding_exon;refseq.spliceDist=26;refseq.start=22989586;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr15 22993888 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=867;Dels=0.00;HRun=1;HaplotypeScore=16.71;MQ=83.47;MQ0=108;OQ=16903.87;QD=19.50;RankSumP=0.0760251;SB=-5311.67;SecondBestBaseQ=33;refseq.chr=chr15;refseq.end=22993888;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=73;refseq.name=NR_003307;refseq.name2=SNORD115-15;refseq.positionType=non_coding_exon;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=22993888;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr15 23004324 . G C 6461.99 Indel AC=1;AF=0.50;AN=2;DP=453;Dels=0.00;HRun=0;HaplotypeScore=25.84;MQ=90.16;MQ0=0;QD=14.26;SB=-1978.85;refseq.chr=chr15;refseq.end=23028642;refseq.haplotypeReference=*;refseq.name=NR_003313;refseq.name2=SNORD115-21;refseq.positionType=non_coding_intron;refseq.start=23002537;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:312,141:442:-645.20,-133.11,-1506.51:99 chr15 23011853 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=931;Dels=0.00;HRun=0;HaplotypeScore=19.49;MQ=88.20;MQ0=6;OQ=19176.72;QD=20.60;RankSumP=0.0975226;SB=-7436.57;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.end_1=23028642;refseq.end_2=23011853;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=73;refseq.name2_1=SNORD115-21;refseq.name2_2=SNORD115-25;refseq.name_1=NR_003313;refseq.name_2=NR_003342;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=23002537;refseq.start_2=23011853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr15 23039879 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1030;Dels=0.00;HRun=0;HaplotypeScore=24.33;MQ=82.77;MQ0=118;OQ=18580.03;QD=18.04;RankSumP=0.0701500;SB=-7540.10;SecondBestBaseQ=31;refseq.chr=chr15;refseq.end=23039879;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=26;refseq.name=NR_003355;refseq.name2=SNORD115-40;refseq.positionType=non_coding_exon;refseq.spliceDist=26;refseq.start=23039879;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr15 23476187 . C G 181.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2954.84;QD=46.17;RankSumP=1.00000;SB=-336.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3894G>C;refseq.codonCoord=1298;refseq.end=23476187;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4000;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1298S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=28;refseq.start=23476187;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr15 23477279 . G A 316.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.28;MQ0=0;OQ=3139.88;QD=42.43;RankSumP=1.00000;SB=-1567.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3528C>T;refseq.codonCoord=1176;refseq.end=23477279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3634;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1176A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=36;refseq.start=23477279;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr15 23477291 rs2076742 C G 65.58 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=97.92;MQ0=0;OQ=898.26;QD=13.21;SB=-460.24;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3516G>C;refseq.codonCoord=1172;refseq.end=23477291;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3622;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1172C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=24;refseq.start=23477291;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=gatk GT:AD:DP:GL:GQ 0/1:45,23:67:-113.28,-20.17,-221.00:99 chr15 23477297 rs2076741 C G 73.15 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=97.77;MQ0=0;OQ=773.47;QD=12.89;SB=-373.32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3510G>C;refseq.codonCoord=1170;refseq.end=23477297;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3616;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1170T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=18;refseq.start=23477297;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:40,20:60:-98.70,-18.07,-184.76:99 chr15 23504535 . C T 295.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=5.03;MQ=98.67;MQ0=0;OQ=5001.60;QD=17.67;RankSumP=0.492419;SB=-734.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2350G>A;refseq.codonCoord=784;refseq.end=23504535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2456;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A784T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=23504535;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr15 23513057 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=392;Dels=0.00;HRun=2;HaplotypeScore=12.11;MQ=98.85;MQ0=0;OQ=13986.12;QD=35.68;RankSumP=1.00000;SB=-5283.20;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1689T>C;refseq.codonCoord=563;refseq.end=23513057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1795;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P563P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-88;refseq.start=23513057;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr15 23577281 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.632T>G;refseq.codonCoord=211;refseq.end=23577281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_024490;refseq.name2=ATP10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V211G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-23;refseq.start=23577281;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 24569890 . G A 43.46 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.87;RankSumP=0.333333;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.75C>T;refseq.codonCoord=25;refseq.end=24569890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=131;refseq.name=NM_021912;refseq.name2=GABRB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=24569890;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr15 25770133 . A G 119.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=3.77;MQ=97.87;MQ0=0;OQ=1061.38;QD=16.85;RankSumP=0.202453;SB=-372.29;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2328T>C;refseq.codonCoord=776;refseq.end=25770133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2438;refseq.name=NM_000275;refseq.name2=OCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A776A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-11;refseq.start=25770133;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr15 25885516 . G A 393.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4657.67;QD=40.86;RankSumP=1.00000;SB=-944.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1551C>T;refseq.codonCoord=517;refseq.end=25885516;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1661;refseq.name=NM_000275;refseq.name2=OCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C517C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=48;refseq.start=25885516;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 25905375 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=348;Dels=0.00;HRun=1;HaplotypeScore=57.93;MQ=98.26;MQ0=0;OQ=114.35;QD=0.33;RankSumP=0.00000;SB=516.73;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1192G>T;refseq.codonCoord=398;refseq.end=25905375;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_000275;refseq.name2=OCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V398L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=25905375;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr15 25909368 . C T 379.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.58;MQ0=0;OQ=4508.35;QD=42.53;RankSumP=1.00000;SB=-1642.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1065G>A;refseq.codonCoord=355;refseq.end=25909368;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1175;refseq.name=NM_000275;refseq.name2=OCA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A355A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=21;refseq.start=25909368;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr15 26030659 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.14350G>C;refseq.codonCoord=4784;refseq.end=26030659;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14456;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4784P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=118;refseq.start=26030659;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 26034227 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.13665C>G;refseq.codonCoord=4555;refseq.end=26034227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13771;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4555A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=56;refseq.start=26034227;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr15 26060221 . C T 172.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=98.53;MQ0=0;OQ=2146.95;QD=14.91;RankSumP=0.0799503;SB=-954.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.11967G>A;refseq.codonCoord=3989;refseq.end=26060221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12073;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q3989Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-49;refseq.start=26060221;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr15 26088260 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=25.91;MQ=55.35;MQ0=112;OQ=4936.76;QD=16.57;RankSumP=1.00000;SB=-1412.41;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.10194A>G;refseq.codonCoord=3398;refseq.end=26088260;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10300;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3398S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-36;refseq.start=26088260;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr15 26129816 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.6996G>A;refseq.codonCoord=2332;refseq.end=26129816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7102;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2332L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=71;refseq.start=26129816;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT 1/1 chr15 26155753 . C G 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.735505;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3954G>C;refseq.codonCoord=1318;refseq.end=26155753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4060;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1318S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-50;refseq.start=26155753;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 1/0 chr15 26157460 . G A 42.97 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=71.96;MQ0=7;QD=0.25;SB=88.08;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3631C>T;refseq.codonCoord=1211;refseq.end=26157460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3737;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1211C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=54;refseq.start=26157460;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:149,21:159:-55.46,-47.88,-570.42:75.81 chr15 26157498 . C A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=183;Dels=0.00;HRun=1;HaplotypeScore=6.22;MQ=62.33;MQ0=34;OQ=402.99;QD=2.20;SB=-131.74;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3593G>T;refseq.codonCoord=1198;refseq.end=26157498;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3699;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1198V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=16;refseq.start=26157498;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:145,38:137:-84.83,-41.25,-480.97:99 chr15 26175874 . A G 106.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=9.86;MQ=79.80;MQ0=54;OQ=8608.99;QD=26.82;RankSumP=1.00000;SB=-3571.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2445T>C;refseq.codonCoord=815;refseq.end=26175874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2551;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G815G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-73;refseq.start=26175874;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 26193030 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr15;refseq.codingCoordStr=c.800+2;refseq.end=26193030;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_004667;refseq.name2=HERC2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=26193030;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr15 26566774 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26566774;refseq.end_2=26566774;refseq.end_3=26566774;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_1=2294;refseq.mrnaCoord_2=1853;refseq.mrnaCoord_3=2306;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033351;refseq.name_2=NR_033352;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_1=171;refseq.spliceDist_2=171;refseq.spliceDist_3=171;refseq.start_1=26566774;refseq.start_2=26566774;refseq.start_3=26566774;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 1/0 chr15 26568149 . A G 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.668778;SecondBestBaseQ=29;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26570587;refseq.end_2=26568149;refseq.end_3=26568149;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_2=1749;refseq.mrnaCoord_3=1761;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033352;refseq.name_2=NR_033351;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=26567518;refseq.start_2=26568149;refseq.start_3=26568149;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=soap GT 0/1 chr15 26570499 . T C 9 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.00000;SecondBestBaseQ=2;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26570587;refseq.end_2=26570499;refseq.end_3=26570499;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_2=1474;refseq.mrnaCoord_3=1474;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033352;refseq.name_2=NR_033351;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=26567518;refseq.start_2=26570499;refseq.start_3=26570499;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 1/1 chr15 26570500 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.166667;SecondBestBaseQ=2;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26570587;refseq.end_2=26570500;refseq.end_3=26570500;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_2=1473;refseq.mrnaCoord_3=1473;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033352;refseq.name_2=NR_033351;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=26567518;refseq.start_2=26570500;refseq.start_3=26570500;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr15 26571127 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.708916;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26571127;refseq.end_2=26571127;refseq.end_3=26571127;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_1=1236;refseq.mrnaCoord_2=1236;refseq.mrnaCoord_3=1236;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033351;refseq.name_2=NR_033352;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=26571127;refseq.start_2=26571127;refseq.start_3=26571127;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=soap GT 1/0 chr15 26571378 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.673019;SecondBestBaseQ=30;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.end_1=26571378;refseq.end_2=26571378;refseq.end_3=26571378;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1180;refseq.mrnaCoord_3=1180;refseq.name2_1=GOLGA8F;refseq.name2_2=GOLGA8F;refseq.name2_3=GOLGA8G;refseq.name_1=NR_033351;refseq.name_2=NR_033352;refseq.name_3=NR_033353;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=26571378;refseq.start_2=26571378;refseq.start_3=26571378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=soap GT 0/1 chr15 27155588 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1069+2;refseq.codingCoordStr_2=c.1069+2;refseq.end_1=27155588;refseq.end_2=27155588;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=APBA2;refseq.name2_2=APBA2;refseq.name_1=NM_001130414;refseq.name_2=NM_005503;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=27155588;refseq.start_2=27155588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr15 27796148 . C A 412.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.22;MQ0=0;OQ=3570.63;QD=39.67;RankSumP=1.00000;SB=-1186.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.4161G>T;refseq.codingCoordStr_2=c.3921G>T;refseq.codonCoord_1=1387;refseq.codonCoord_2=1307;refseq.end_1=27796148;refseq.end_2=27796148;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4636;refseq.mrnaCoord_2=4396;refseq.name2_1=TJP1;refseq.name2_2=TJP1;refseq.name_1=NM_003257;refseq.name_2=NM_175610;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1387A;refseq.proteinCoordStr_2=p.A1307A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=27796148;refseq.start_2=27796148;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr15 28451745 . C T 39.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=15.06;MQ0=219;OQ=3422.71;QD=11.04;RankSumP=1.00000;SB=-1673.75;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.420G>A;refseq.codingCoordStr_2=c.147G>A;refseq.codonCoord_1=140;refseq.codonCoord_2=49;refseq.end_1=28451745;refseq.end_2=28451745;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=986;refseq.mrnaCoord_2=922;refseq.name2_1=CHRFAM7A;refseq.name2_2=CHRFAM7A;refseq.name_1=NM_139320;refseq.name_2=NM_148911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T140T;refseq.proteinCoordStr_2=p.T49T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=92;refseq.spliceDist_2=92;refseq.start_1=28451745;refseq.start_2=28451745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=filterInsoap-gatk GT 1/1 chr15 28451781 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.508991;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.384T>C;refseq.codingCoordStr_2=c.111T>C;refseq.codonCoord_1=128;refseq.codonCoord_2=37;refseq.end_1=28451781;refseq.end_2=28451781;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=886;refseq.name2_1=CHRFAM7A;refseq.name2_2=CHRFAM7A;refseq.name_1=NM_139320;refseq.name_2=NM_148911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P128P;refseq.proteinCoordStr_2=p.P37P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=28451781;refseq.start_2=28451781;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr15 28452573 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.333333;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.228G>A;refseq.codingCoordStr_2=c.-46G>A;refseq.codonCoord_1=76;refseq.end_1=28452573;refseq.end_2=28452573;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=730;refseq.name2_1=CHRFAM7A;refseq.name2_2=CHRFAM7A;refseq.name_1=NM_139320;refseq.name_2=NM_148911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.L76L;refseq.referenceAA_1=Leu;refseq.referenceCodon_1=CTG;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=28452573;refseq.start_2=28452573;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTA;set=FilteredInAll GT 0/1 chr15 28452574 . A T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.227T>A;refseq.codingCoordStr_2=c.-47T>A;refseq.codonCoord_1=76;refseq.end_1=28452574;refseq.end_2=28452574;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=793;refseq.mrnaCoord_2=729;refseq.name2_1=CHRFAM7A;refseq.name2_2=CHRFAM7A;refseq.name_1=NM_139320;refseq.name_2=NM_148911;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.L76Q;refseq.referenceAA_1=Leu;refseq.referenceCodon_1=CTG;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=28452574;refseq.start_2=28452574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantCodon_1=CAG;set=FilteredInAll GT 0/1 chr15 28706335 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.20T>G;refseq.codonCoord=7;refseq.end=28706335;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_001039841;refseq.name2=ARHGAP11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V7G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-110;refseq.start=28706335;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 28714986 . T C 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.665T>C;refseq.codonCoord=222;refseq.end=28714986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_001039841;refseq.name2=ARHGAP11B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V222A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=28714986;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr15 28984856 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=2;HaplotypeScore=11.81;MQ=98.47;MQ0=0;OQ=2891.64;QD=17.42;RankSumP=0.475907;SB=-1083.04;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.698G>A;refseq.codingCoordStr_2=c.698G>A;refseq.codingCoordStr_3=c.698G>A;refseq.codingCoordStr_4=c.698G>A;refseq.codonCoord_1=233;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.codonCoord_4=233;refseq.end_1=28984856;refseq.end_2=28984856;refseq.end_3=28984856;refseq.end_4=28984856;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=989;refseq.mrnaCoord_2=886;refseq.mrnaCoord_3=1002;refseq.mrnaCoord_4=989;refseq.name2_1=MTMR15;refseq.name2_2=MTMR15;refseq.name2_3=MTMR15;refseq.name2_4=MTMR15;refseq.name_1=NM_001146094;refseq.name_2=NM_001146095;refseq.name_3=NM_001146096;refseq.name_4=NM_014967;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G233E;refseq.proteinCoordStr_2=p.G233E;refseq.proteinCoordStr_3=p.G233E;refseq.proteinCoordStr_4=p.G233E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-537;refseq.spliceDist_2=-537;refseq.spliceDist_3=-537;refseq.spliceDist_4=-537;refseq.start_1=28984856;refseq.start_2=28984856;refseq.start_3=28984856;refseq.start_4=28984856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr15 29016712 . T C 239.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.71;MQ0=0;OQ=5574.41;QD=36.43;RankSumP=1.00000;SB=-2767.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3015T>C;refseq.codonCoord=1005;refseq.end=29016712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3306;refseq.name=NM_014967;refseq.name2=MTMR15;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1005H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-43;refseq.start=29016712;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr15 29117572 . A G 385.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=6919.73;QD=38.23;RankSumP=1.00000;SB=-2966.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2340T>C;refseq.codonCoord=780;refseq.end=29117572;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2468;refseq.name=NM_002420;refseq.name2=TRPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N780N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-34;refseq.start=29117572;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr15 29130036 . C T 245.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=98.38;MQ0=0;OQ=6269.32;QD=39.43;RankSumP=1.00000;SB=-1937.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1239G>A;refseq.codonCoord=413;refseq.end=29130036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_002420;refseq.name2=TRPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T413T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=42;refseq.start=29130036;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr15 29149644 . C T 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=1856.89;QD=42.20;RankSumP=1.00000;SB=-393.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.95G>A;refseq.codonCoord=32;refseq.end=29149644;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_002420;refseq.name2=TRPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S32N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=78;refseq.start=29149644;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr15 29156415 . A G 229.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.83;MQ0=0;OQ=13086.95;QD=38.72;RankSumP=1.00000;SB=-5573.90;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2T>C;refseq.codonCoord=1;refseq.end=29156415;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_002420;refseq.name2=TRPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-16;refseq.start=29156415;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr15 29581222 . A G 353.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=9.63;MQ=98.91;MQ0=0;OQ=5499.06;QD=17.85;RankSumP=0.297125;SB=-1813.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1113T>C;refseq.codonCoord=371;refseq.end=29581222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_130901;refseq.name2=OTUD7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L371L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-38;refseq.start=29581222;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr15 30237996 . G A 22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=493;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=15.00;MQ0=332;OQ=2604.75;QD=5.28;RankSumP=1.00000;SB=-1324.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.690G>A;refseq.codonCoord=230;refseq.end=30237996;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_000746;refseq.name2=CHRNA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T230T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=92;refseq.start=30237996;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr15 30695724 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.20T>G;refseq.codingCoordStr_2=c.20T>G;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=30695724;refseq.end_2=30695724;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=742;refseq.mrnaCoord_2=742;refseq.name2_1=ARHGAP11A;refseq.name2_2=ARHGAP11A;refseq.name_1=NM_014783;refseq.name_2=NM_199357;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V7G;refseq.proteinCoordStr_2=p.V7G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.start_1=30695724;refseq.start_2=30695724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr15 30712518 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=497;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.78;MQ0=0;OQ=9528.31;QD=19.17;RankSumP=0.0924624;SB=-3017.45;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1152T>G;refseq.codingCoordStr_2=c.1152T>G;refseq.codonCoord_1=384;refseq.codonCoord_2=384;refseq.end_1=30712518;refseq.end_2=30712518;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1874;refseq.mrnaCoord_2=1874;refseq.name2_1=ARHGAP11A;refseq.name2_2=ARHGAP11A;refseq.name_1=NM_014783;refseq.name_2=NM_199357;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S384S;refseq.proteinCoordStr_2=p.S384S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=30712518;refseq.start_2=30712518;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr15 32182163 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.139G>A;refseq.codonCoord=47;refseq.end=32182163;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_152595;refseq.name2=PGBD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E47K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=598;refseq.start=32182163;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr15 32316240 . G A 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=590;Dels=0.00;HRun=1;HaplotypeScore=10.36;MQ=98.50;MQ0=0;OQ=24501.09;QD=41.53;RankSumP=1.00000;SB=-10691.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.chr_6=chr15;refseq.codingCoordStr_1=c.2826C>T;refseq.codingCoordStr_2=c.2826C>T;refseq.codingCoordStr_3=c.2976C>T;refseq.codingCoordStr_4=c.2958C>T;refseq.codingCoordStr_5=c.2850C>T;refseq.codingCoordStr_6=c.3003C>T;refseq.codonCoord_1=942;refseq.codonCoord_2=942;refseq.codonCoord_3=992;refseq.codonCoord_4=986;refseq.codonCoord_5=950;refseq.codonCoord_6=1001;refseq.end_1=32316240;refseq.end_2=32316240;refseq.end_3=32316240;refseq.end_4=32316240;refseq.end_5=32316240;refseq.end_6=32316240;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=3353;refseq.mrnaCoord_2=3028;refseq.mrnaCoord_3=3419;refseq.mrnaCoord_4=3122;refseq.mrnaCoord_5=2992;refseq.mrnaCoord_6=3167;refseq.name2_1=SLC12A6;refseq.name2_2=SLC12A6;refseq.name2_3=SLC12A6;refseq.name2_4=SLC12A6;refseq.name2_5=SLC12A6;refseq.name2_6=SLC12A6;refseq.name_1=NM_001042494;refseq.name_2=NM_001042495;refseq.name_3=NM_001042496;refseq.name_4=NM_001042497;refseq.name_5=NM_005135;refseq.name_6=NM_133647;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.L942L;refseq.proteinCoordStr_2=p.L942L;refseq.proteinCoordStr_3=p.L992L;refseq.proteinCoordStr_4=p.L986L;refseq.proteinCoordStr_5=p.L950L;refseq.proteinCoordStr_6=p.L1001L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.spliceDist_5=-40;refseq.spliceDist_6=-40;refseq.start_1=32316240;refseq.start_2=32316240;refseq.start_3=32316240;refseq.start_4=32316240;refseq.start_5=32316240;refseq.start_6=32316240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;refseq.variantCodon_6=CTT;set=Intersection GT 1/1 chr15 32427510 . C T 157.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=11.36;MQ=98.82;MQ0=0;OQ=14865.32;QD=41.76;RankSumP=1.00000;SB=-5480.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.65C>T;refseq.codonCoord=22;refseq.end=32427510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_175741;refseq.name2=C15orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.P22L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=49;refseq.start=32427510;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 32427670 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=531;Dels=0.00;HRun=0;HaplotypeScore=20.97;MQ=98.73;MQ0=0;OQ=18731.19;QD=35.28;RankSumP=1.00000;SB=-7490.63;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.225T>C;refseq.codonCoord=75;refseq.end=32427670;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_175741;refseq.name2=C15orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.D75D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=209;refseq.start=32427670;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr15 32430265 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.794T>G;refseq.codonCoord=265;refseq.end=32430265;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_175741;refseq.name2=C15orf55;refseq.positionType=CDS;refseq.proteinCoordStr=p.V265G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-61;refseq.start=32430265;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 32461014 . C T 29.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=13.68;MQ=22.03;MQ0=73;OQ=7709.85;QD=28.55;RankSumP=1.00000;SB=-1100.96;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1702G>A;refseq.codonCoord_2=568;refseq.end_1=32461014;refseq.end_2=32461014;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4073;refseq.mrnaCoord_2=1811;refseq.name2_1=GOLGA8A;refseq.name2_2=GOLGA8A;refseq.name_1=NR_027409;refseq.name_2=NM_181077;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V568I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=32461014;refseq.start_2=32461014;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=filterInsoap-gatk GT 1/1 chr15 32832349 . G A 218.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=7805.82;QD=22.89;RankSumP=0.167165;SB=-2343.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.588C>T;refseq.codonCoord=196;refseq.end=32832349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_020660;refseq.name2=GJD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S196S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-379;refseq.start=32832349;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr15 32832568 . G A 239.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=10.59;MQ=98.58;MQ0=0;OQ=6984.49;QD=17.37;RankSumP=0.290280;SB=-2239.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.369C>T;refseq.codonCoord=123;refseq.end=32832568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_020660;refseq.name2=GJD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S123S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=298;refseq.start=32832568;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr15 32832604 . T A 268.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=7.63;MQ=98.41;MQ0=0;OQ=15272.84;QD=38.37;RankSumP=1.00000;SB=-6891.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.333A>T;refseq.codonCoord=111;refseq.end=32832604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_020660;refseq.name2=GJD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T111T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=262;refseq.start=32832604;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr15 32936300 . C T 319.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.82;MQ0=0;OQ=14284.60;QD=41.28;RankSumP=1.00000;SB=-4664.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4443G>A;refseq.codonCoord=1481;refseq.end=32936300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4624;refseq.name=NM_014691;refseq.name2=AQR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1481P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=300;refseq.start=32936300;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr15 32936431 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4312A>C;refseq.codonCoord=1438;refseq.end=32936431;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4493;refseq.name=NM_014691;refseq.name2=AQR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1438P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=169;refseq.start=32936431;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 33060912 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=8.32;MQ=95.30;MQ0=2;OQ=5166.15;QD=21.17;RankSumP=0.400761;SB=-874.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2016G>A;refseq.codonCoord=672;refseq.end=33060912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2327;refseq.name=NM_014106;refseq.name2=ZNF770;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q672Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=2072;refseq.start=33060912;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr15 36401817 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.67;MQ0=0;OQ=1323.69;QD=15.04;RankSumP=0.230201;SB=-413.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.291G>A;refseq.codonCoord=97;refseq.end=36401817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_152594;refseq.name2=SPRED1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K97K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=84;refseq.start=36401817;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr15 36430866 . T C 267.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.87;MQ0=0;OQ=10117.50;QD=20.40;RankSumP=0.397227;SB=-3221.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1044T>C;refseq.codonCoord=348;refseq.end=36430866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_152594;refseq.name2=SPRED1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V348V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=360;refseq.start=36430866;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr15 37667009 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=97.41;MQ0=0;OQ=1035.46;QD=16.97;RankSumP=0.620117;SB=-276.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1290G>A;refseq.codonCoord=430;refseq.end=37667009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1469;refseq.name=NM_003246;refseq.name2=THBS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K430K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=37667009;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr15 37667650 . C T 201.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=98.31;MQ0=0;OQ=4908.03;QD=23.15;RankSumP=0.337350;SB=-1201.22;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1410C>T;refseq.codonCoord=470;refseq.end=37667650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1589;refseq.name=NM_003246;refseq.name2=THBS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N470N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-62;refseq.start=37667650;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr15 37668114 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=99.00;MQ0=0;OQ=1507.67;QD=12.06;RankSumP=0.461135;SB=-574.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1567A>G;refseq.codonCoord=523;refseq.end=37668114;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_003246;refseq.name2=THBS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T523A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-79;refseq.start=37668114;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr15 37697344 . C G 167.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.54;MQ0=0;OQ=5665.29;QD=23.12;RankSumP=0.487685;SB=-2241.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1583G>C;refseq.codonCoord=528;refseq.end=37697344;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1801;refseq.name=NM_152597;refseq.name2=FSIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G528A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-117;refseq.start=37697344;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr15 37697696 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=2820.76;QD=12.48;RankSumP=0.273085;SB=-1429.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1231C>T;refseq.codonCoord=411;refseq.end=37697696;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_152597;refseq.name2=FSIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L411F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=43;refseq.start=37697696;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr15 37697723 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=2446.42;QD=11.02;RankSumP=0.358632;SB=-1185.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1204T>C;refseq.codonCoord=402;refseq.end=37697723;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_152597;refseq.name2=FSIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C402R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=16;refseq.start=37697723;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr15 38013787 . T C 317.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=5.18;MQ=98.09;MQ0=0;OQ=3466.03;QD=37.67;RankSumP=1.00000;SB=-1596.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=38013787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_001013703;refseq.name2=EIF2AK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I33I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-46;refseq.start=38013787;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr15 38053091 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=567;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.71;MQ0=0;OQ=24007.00;QD=42.34;RankSumP=1.00000;SB=-9708.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1667A>G;refseq.codonCoord=556;refseq.end=38053091;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1717;refseq.name=NM_001013703;refseq.name2=EIF2AK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E556G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=38053091;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr15 38100433 . C T 218.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=10.98;MQ=98.70;MQ0=0;OQ=16178.31;QD=41.70;RankSumP=1.00000;SB=-7700.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4215C>T;refseq.codonCoord=1405;refseq.end=38100433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4265;refseq.name=NM_001013703;refseq.name2=EIF2AK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1405G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=42;refseq.start=38100433;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr15 38115867 . G C 375.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=94.82;MQ0=0;OQ=3453.09;QD=39.24;RankSumP=1.00000;SB=-523.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.370C>G;refseq.codonCoord=124;refseq.end=38115867;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_003134;refseq.name2=SRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P124A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=127;refseq.start=38115867;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr15 38115889 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=2.44843e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.348A>C;refseq.codonCoord=116;refseq.end=38115889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_003134;refseq.name2=SRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A116A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=105;refseq.start=38115889;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr15 38115957 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=92.92;MQ0=5;OQ=2330.19;QD=10.59;RankSumP=0.124303;SB=-547.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.280C>T;refseq.codonCoord=94;refseq.end=38115957;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_003134;refseq.name2=SRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L94L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=37;refseq.start=38115957;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr15 38117810 . T G 238.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=9.73;MQ=91.64;MQ0=5;OQ=6567.84;QD=17.47;RankSumP=0.476633;SB=-2450.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.175A>C;refseq.codonCoord=59;refseq.end=38117810;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=247;refseq.name=NM_003134;refseq.name2=SRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R59R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-36;refseq.start=38117810;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr15 38117856 . C T 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=359;Dels=0.00;HRun=2;HaplotypeScore=3.36;MQ=92.69;MQ0=5;OQ=13668.08;QD=38.07;RankSumP=1.00000;SB=-5411.85;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.129G>A;refseq.codonCoord=43;refseq.end=38117856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_003134;refseq.name2=SRP14;refseq.positionType=CDS;refseq.proteinCoordStr=p.K43K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=32;refseq.start=38117856;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr15 38183813 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.000696443;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_2=c.313C>T;refseq.codingCoordStr_3=c.313C>T;refseq.codingCoordStr_4=c.313C>T;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.codonCoord_4=105;refseq.end_1=38185277;refseq.end_2=38183813;refseq.end_3=38183813;refseq.end_4=38183813;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=548;refseq.mrnaCoord_3=313;refseq.mrnaCoord_4=399;refseq.name2_1=BMF;refseq.name2_2=BMF;refseq.name2_3=BMF;refseq.name2_4=BMF;refseq.name_1=NM_001003943;refseq.name_2=NM_001003940;refseq.name_3=NM_001003942;refseq.name_4=NM_033503;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.P105S;refseq.proteinCoordStr_3=p.P105S;refseq.proteinCoordStr_4=p.P105S;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=38171392;refseq.start_2=38183813;refseq.start_3=38183813;refseq.start_4=38183813;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;set=FilteredInAll GT 1/0 chr15 38265123 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=12.32;MQ=98.90;MQ0=0;OQ=4677.85;QD=23.63;RankSumP=0.124611;SB=-1324.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1046G>A;refseq.codonCoord=349;refseq.end=38265123;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1258;refseq.name=NM_001211;refseq.name2=BUB1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R349Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-13;refseq.start=38265123;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr15 38276143 . G A 231.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2685.93;QD=15.44;RankSumP=0.185648;SB=-925.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1164G>A;refseq.codonCoord=388;refseq.end=38276143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_001211;refseq.name2=BUB1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A388A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=106;refseq.start=38276143;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr15 38331785 . A G 37.76 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=92.19;MQ0=0;QD=6.29;RankSumP=0.133333;SB=-42.93;SecondBestBaseQ=34;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_4=c.479T>C;refseq.codonCoord_4=160;refseq.end_1=38332660;refseq.end_2=38332660;refseq.end_3=38332660;refseq.end_4=38331785;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=500;refseq.name2_1=PAK6;refseq.name2_2=PAK6;refseq.name2_3=PAK6;refseq.name2_4=C15orf56;refseq.name_1=NM_001128629;refseq.name_2=NM_001128628;refseq.name_3=NM_020168;refseq.name_4=NM_001039905;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.I160T;refseq.referenceAA_4=Ile;refseq.referenceCodon_4=ATC;refseq.spliceDist_4=248;refseq.start_1=38297171;refseq.start_2=38320185;refseq.start_3=38320185;refseq.start_4=38331785;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACC;set=FilteredInAll GT 0/1 chr15 38331812 . G C 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=93.94;MQ0=0;OQ=88.96;QD=11.12;RankSumP=0.607143;SB=-51.91;SecondBestBaseQ=18;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_4=c.452C>G;refseq.codonCoord_4=151;refseq.end_1=38332660;refseq.end_2=38332660;refseq.end_3=38332660;refseq.end_4=38331812;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=473;refseq.name2_1=PAK6;refseq.name2_2=PAK6;refseq.name2_3=PAK6;refseq.name2_4=C15orf56;refseq.name_1=NM_001128629;refseq.name_2=NM_001128628;refseq.name_3=NM_020168;refseq.name_4=NM_001039905;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P151R;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCG;refseq.spliceDist_4=221;refseq.start_1=38297171;refseq.start_2=38320185;refseq.start_3=38320185;refseq.start_4=38331812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGG;set=Intersection GT 0/1 chr15 38331909 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=502.57;QD=18.61;RankSumP=0.289384;SB=-113.61;SecondBestBaseQ=31;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_4=c.355C>T;refseq.codonCoord_4=119;refseq.end_1=38332660;refseq.end_2=38332660;refseq.end_3=38332660;refseq.end_4=38331909;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=376;refseq.name2_1=PAK6;refseq.name2_2=PAK6;refseq.name2_3=PAK6;refseq.name2_4=C15orf56;refseq.name_1=NM_001128629;refseq.name_2=NM_001128628;refseq.name_3=NM_020168;refseq.name_4=NM_001039905;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P119S;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCA;refseq.spliceDist_4=124;refseq.start_1=38297171;refseq.start_2=38320185;refseq.start_3=38320185;refseq.start_4=38331909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Ser;refseq.variantCodon_4=TCA;set=Intersection GT 1/0 chr15 38332279 . G A 24.32 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.04;RankSumP=0.238095;SB=-27.50;SecondBestBaseQ=29;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_4=c.103C>T;refseq.codonCoord_4=35;refseq.end_1=38332660;refseq.end_2=38332660;refseq.end_3=38332660;refseq.end_4=38332279;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=124;refseq.name2_1=PAK6;refseq.name2_2=PAK6;refseq.name2_3=PAK6;refseq.name2_4=C15orf56;refseq.name_1=NM_001128629;refseq.name_2=NM_001128628;refseq.name_3=NM_020168;refseq.name_4=NM_001039905;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P35S;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCG;refseq.spliceDist_4=124;refseq.start_1=38297171;refseq.start_2=38320185;refseq.start_3=38320185;refseq.start_4=38332279;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.variantAA_4=Ser;refseq.variantCodon_4=TCG;set=FilteredInAll GT 1/0 chr15 38351793 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.935A>C;refseq.codingCoordStr_2=c.935A>C;refseq.codingCoordStr_3=c.935A>C;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.codonCoord_3=312;refseq.end_1=38351793;refseq.end_2=38351793;refseq.end_3=38351793;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1375;refseq.mrnaCoord_2=1292;refseq.mrnaCoord_3=1397;refseq.name2_1=PAK6;refseq.name2_2=PAK6;refseq.name2_3=PAK6;refseq.name_1=NM_001128628;refseq.name_2=NM_001128629;refseq.name_3=NM_020168;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D312A;refseq.proteinCoordStr_2=p.D312A;refseq.proteinCoordStr_3=p.D312A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.start_1=38351793;refseq.start_2=38351793;refseq.start_3=38351793;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr15 38370852 . G T 78.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=75.85;QD=18.96;RankSumP=0.750000;SB=-49.94;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2776C>A;refseq.codonCoord=926;refseq.end=38370852;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3077;refseq.name=NM_004573;refseq.name2=PLCB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R926R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-95;refseq.start=38370852;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr15 38372481 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2264T>G;refseq.codonCoord=755;refseq.end=38372481;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2565;refseq.name=NM_004573;refseq.name2=PLCB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V755G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=38372481;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 38377426 . G A 350.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=9.40;MQ=98.72;MQ0=0;OQ=6763.62;QD=20.88;RankSumP=0.437536;SB=-2430.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1182C>T;refseq.codonCoord=394;refseq.end=38377426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1483;refseq.name=NM_004573;refseq.name2=PLCB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S394S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=27;refseq.start=38377426;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr15 38415137 . G A 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.87;MQ0=0;OQ=143.07;QD=14.31;RankSumP=0.0317460;SB=-84.31;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1119C>T;refseq.codonCoord=373;refseq.end=38415137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1135;refseq.name=NM_207380;refseq.name2=C15orf52;refseq.positionType=CDS;refseq.proteinCoordStr=p.S373S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=57;refseq.start=38415137;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr15 38444016 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.39;MQ0=0;OQ=604.61;QD=14.75;RankSumP=0.662596;SB=-78.07;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.582C>T;refseq.codonCoord=194;refseq.end=38444016;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_033510;refseq.name2=DISP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P194P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-22;refseq.start=38444016;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr15 38494452 . T G 47.36 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=115;Dels=0.00;HRun=2;HaplotypeScore=10.01;MQ=97.74;MQ0=0;QD=0.41;RankSumP=0.00000;SB=188.61;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.776T>G;refseq.codingCoordStr_2=c.866T>G;refseq.codonCoord_1=259;refseq.codonCoord_2=289;refseq.end_1=38494452;refseq.end_2=38494452;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1110;refseq.mrnaCoord_2=1200;refseq.name2_1=IVD;refseq.name2_2=IVD;refseq.name_1=NM_001159508;refseq.name_2=NM_002225;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V259G;refseq.proteinCoordStr_2=p.V289G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=38494452;refseq.start_2=38494452;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr15 38642502 . T A 257.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=98.70;MQ0=0;OQ=1794.61;QD=19.94;RankSumP=0.365654;SB=-618.29;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.32A>T;refseq.codingCoordStr_2=c.5A>T;refseq.codingCoordStr_3=c.5A>T;refseq.codonCoord_1=11;refseq.codonCoord_2=2;refseq.codonCoord_3=2;refseq.end_1=38642502;refseq.end_2=38642502;refseq.end_3=38642502;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=305;refseq.mrnaCoord_2=95;refseq.mrnaCoord_3=280;refseq.name2_1=C15orf57;refseq.name2_2=C15orf57;refseq.name2_3=C15orf57;refseq.name_1=NM_001080791;refseq.name_2=NM_001080792;refseq.name_3=NM_052849;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K11I;refseq.proteinCoordStr_2=p.K2I;refseq.proteinCoordStr_3=p.K2I;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=38642502;refseq.start_2=38642502;refseq.start_3=38642502;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/0 chr15 38649356 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=3.86;MQ=99.00;MQ0=0;OQ=839.91;QD=13.55;RankSumP=0.582780;SB=-265.74;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.528C>T;refseq.codonCoord=176;refseq.end=38649356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_152260;refseq.name2=RPUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A176A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-79;refseq.start=38649356;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr15 38651393 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr=chr15;refseq.codingCoordStr=c.903+2;refseq.end=38651393;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_152260;refseq.name2=RPUSD2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=38651393;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr15 38653628 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=9.22346e-09;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1514T>G;refseq.codonCoord=505;refseq.end=38653628;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1514;refseq.name=NM_152260;refseq.name2=RPUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V505G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-326;refseq.start=38653628;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 38685935 . G C 160.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.46;MQ0=0;OQ=4838.52;QD=24.94;RankSumP=0.374377;SB=-1603.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.128G>C;refseq.codingCoordStr_2=c.128G>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=38685935;refseq.end_2=38685935;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=289;refseq.mrnaCoord_2=289;refseq.name2_1=CASC5;refseq.name2_2=CASC5;refseq.name_1=NM_144508;refseq.name_2=NM_170589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R43T;refseq.proteinCoordStr_2=p.R43T;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=38685935;refseq.start_2=38685935;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr15 38701132 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=2.82;MQ=98.75;MQ0=0;OQ=1619.07;QD=12.17;RankSumP=0.252199;SB=-602.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1378G>T;refseq.codingCoordStr_2=c.1456G>T;refseq.codonCoord_1=460;refseq.codonCoord_2=486;refseq.end_1=38701132;refseq.end_2=38701132;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1539;refseq.mrnaCoord_2=1617;refseq.name2_1=CASC5;refseq.name2_2=CASC5;refseq.name_1=NM_144508;refseq.name_2=NM_170589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A460S;refseq.proteinCoordStr_2=p.A486S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=1003;refseq.spliceDist_2=1003;refseq.start_1=38701132;refseq.start_2=38701132;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr15 38701757 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=282;Dels=0.00;HRun=2;HaplotypeScore=14.33;MQ=98.22;MQ0=0;OQ=196.80;QD=0.70;RankSumP=0.00000;SB=278.95;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2003C>A;refseq.codingCoordStr_2=c.2081C>A;refseq.codonCoord_1=668;refseq.codonCoord_2=694;refseq.end_1=38701757;refseq.end_2=38701757;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2164;refseq.mrnaCoord_2=2242;refseq.name2_1=CASC5;refseq.name2_2=CASC5;refseq.name_1=NM_144508;refseq.name_2=NM_170589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T668K;refseq.proteinCoordStr_2=p.T694K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1628;refseq.spliceDist_2=1628;refseq.start_1=38701757;refseq.start_2=38701757;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr15 38702482 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=323;Dels=0.00;HRun=2;HaplotypeScore=10.40;MQ=98.57;MQ0=0;OQ=5261.28;QD=16.29;RankSumP=0.436771;SB=-2078.48;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2728A>G;refseq.codingCoordStr_2=c.2806A>G;refseq.codonCoord_1=910;refseq.codonCoord_2=936;refseq.end_1=38702482;refseq.end_2=38702482;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2889;refseq.mrnaCoord_2=2967;refseq.name2_1=CASC5;refseq.name2_2=CASC5;refseq.name_1=NM_144508;refseq.name_2=NM_170589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R910G;refseq.proteinCoordStr_2=p.R936G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=2353;refseq.spliceDist_2=2353;refseq.start_1=38702482;refseq.start_2=38702482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr15 38703529 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=3;HaplotypeScore=4.94;MQ=98.92;MQ0=0;OQ=5872.20;QD=20.39;RankSumP=0.359731;SB=-2269.42;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3775A>G;refseq.codingCoordStr_2=c.3853A>G;refseq.codonCoord_1=1259;refseq.codonCoord_2=1285;refseq.end_1=38703529;refseq.end_2=38703529;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3936;refseq.mrnaCoord_2=4014;refseq.name2_1=CASC5;refseq.name2_2=CASC5;refseq.name_1=NM_144508;refseq.name_2=NM_170589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K1259E;refseq.proteinCoordStr_2=p.K1285E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-1602;refseq.spliceDist_2=-1602;refseq.start_1=38703529;refseq.start_2=38703529;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr15 38817215 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1127T>G;refseq.codonCoord=376;refseq.end=38817215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1312;refseq.name=NM_018145;refseq.name2=FAM82A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V376G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=38817215;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 38853239 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.000239002;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.770G>C;refseq.codonCoord=257;refseq.end=38853239;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_018163;refseq.name2=DNAJC17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R257P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-23;refseq.start=38853239;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 38893218 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=98.67;MQ0=0;OQ=1728.34;QD=8.96;RankSumP=0.0328877;SB=-519.04;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1126T>G;refseq.codonCoord=376;refseq.end=38893218;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_001077268;refseq.name2=ZFYVE19;refseq.positionType=CDS;refseq.proteinCoordStr=p.S376A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=16;refseq.start=38893218;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr15 38934172 . T C 181.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=610;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=98.84;MQ0=0;OQ=9929.60;QD=16.28;RankSumP=0.000102450;SB=-3627.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1110T>C;refseq.codingCoordStr_2=c.1110T>C;refseq.codingCoordStr_3=c.1158T>C;refseq.codonCoord_1=370;refseq.codonCoord_2=370;refseq.codonCoord_3=386;refseq.end_1=38934172;refseq.end_2=38934172;refseq.end_3=38934172;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=1314;refseq.mrnaCoord_3=1362;refseq.name2_1=SPINT1;refseq.name2_2=SPINT1;refseq.name2_3=SPINT1;refseq.name_1=NM_001032367;refseq.name_2=NM_003710;refseq.name_3=NM_181642;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S370S;refseq.proteinCoordStr_2=p.S370S;refseq.proteinCoordStr_3=p.S386S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=38934172;refseq.start_2=38934172;refseq.start_3=38934172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=filterInsoap-gatk GT 1/0 chr15 38935491 . C T 226.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.86;MQ0=0;OQ=1747.79;QD=15.75;RankSumP=0.359316;SB=-683.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1227C>T;refseq.codingCoordStr_2=c.1227C>T;refseq.codingCoordStr_3=c.1275C>T;refseq.codonCoord_1=409;refseq.codonCoord_2=409;refseq.codonCoord_3=425;refseq.end_1=38935491;refseq.end_2=38935491;refseq.end_3=38935491;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1337;refseq.mrnaCoord_2=1431;refseq.mrnaCoord_3=1479;refseq.name2_1=SPINT1;refseq.name2_2=SPINT1;refseq.name2_3=SPINT1;refseq.name_1=NM_001032367;refseq.name_2=NM_003710;refseq.name_3=NM_181642;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y409Y;refseq.proteinCoordStr_2=p.Y409Y;refseq.proteinCoordStr_3=p.Y425Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.spliceDist_3=-62;refseq.start_1=38935491;refseq.start_2=38935491;refseq.start_3=38935491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 0/1 chr15 38936453 . G C 129.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=2.24;MQ=99.00;MQ0=0;OQ=1321.79;QD=16.12;RankSumP=0.203616;SB=-442.86;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1530G>C;refseq.codingCoordStr_2=c.1530G>C;refseq.codingCoordStr_3=c.1578G>C;refseq.codonCoord_1=510;refseq.codonCoord_2=510;refseq.codonCoord_3=526;refseq.end_1=38936453;refseq.end_2=38936453;refseq.end_3=38936453;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1640;refseq.mrnaCoord_2=1734;refseq.mrnaCoord_3=1782;refseq.name2_1=SPINT1;refseq.name2_2=SPINT1;refseq.name2_3=SPINT1;refseq.name_1=NM_001032367;refseq.name_2=NM_003710;refseq.name_3=NM_181642;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T510T;refseq.proteinCoordStr_2=p.T510T;refseq.proteinCoordStr_3=p.T526T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=194;refseq.spliceDist_2=194;refseq.spliceDist_3=194;refseq.start_1=38936453;refseq.start_2=38936453;refseq.start_3=38936453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 0/1 chr15 38979832 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=97.54;MQ0=0;OQ=1190.28;QD=12.15;RankSumP=0.0706341;SB=-455.95;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1524C>T;refseq.codonCoord=508;refseq.end=38979832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1863;refseq.name=NM_020857;refseq.name2=VPS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.G508G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-673;refseq.start=38979832;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr15 39095657 . A C 154.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=7.99;MQ=98.89;MQ0=0;OQ=4312.89;QD=18.12;RankSumP=0.322257;SB=-1720.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3323T>G;refseq.codonCoord=1108;refseq.end=39095657;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3536;refseq.name=NM_017553;refseq.name2=INO80;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1108G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=49;refseq.start=39095657;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr15 39128905 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.50757e-08;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2448T>G;refseq.codonCoord=816;refseq.end=39128905;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2661;refseq.name=NM_017553;refseq.name2=INO80;refseq.positionType=CDS;refseq.proteinCoordStr=p.C816W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=39128905;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr15 39149114 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.279408;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1728G>A;refseq.codonCoord=576;refseq.end=39149114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1941;refseq.name=NM_017553;refseq.name2=INO80;refseq.positionType=CDS;refseq.proteinCoordStr=p.A576A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=42;refseq.start=39149114;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr15 39263501 . T C 160.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=1;HaplotypeScore=5.64;MQ=98.81;MQ0=0;OQ=7259.49;QD=18.47;RankSumP=0.327878;SB=-2731.02;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1465A>G;refseq.codonCoord=489;refseq.end=39263501;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1656;refseq.name=NM_152596;refseq.name2=EXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T489A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=583;refseq.start=39263501;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr15 39263757 . G A 252.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.93;MQ0=0;OQ=9457.35;QD=20.51;RankSumP=0.133815;SB=-3237.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1209C>T;refseq.codonCoord=403;refseq.end=39263757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1400;refseq.name=NM_152596;refseq.name2=EXD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T403T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=327;refseq.start=39263757;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr15 39476458 . C A 145.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=1147.40;QD=14.90;RankSumP=0.263813;SB=-323.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.92G>T;refseq.codonCoord=31;refseq.end=39476458;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_016013;refseq.name2=NDUFAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R31L;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=173;refseq.start=39476458;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr15 39476524 . C T 272.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=97.73;MQ0=1;OQ=2142.88;QD=18.80;RankSumP=0.0853942;SB=-838.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.26G>A;refseq.codonCoord=9;refseq.end=39476524;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_016013;refseq.name2=NDUFAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R9H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=107;refseq.start=39476524;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr15 39549766 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.909A>C;refseq.codonCoord=303;refseq.end=39549766;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_015138;refseq.name2=RTF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K303N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=20;refseq.start=39549766;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr15 39600368 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=2.30058e-07;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3308T>C;refseq.codonCoord=1103;refseq.end=39600368;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3432;refseq.name=NM_015540;refseq.name2=RPAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1103S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=270;refseq.start=39600368;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr15 39600571 . C T 141.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=9.46;MQ=98.02;MQ0=0;OQ=1700.93;QD=13.50;RankSumP=0.374600;SB=-503.09;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3105G>A;refseq.codonCoord=1035;refseq.end=39600571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3229;refseq.name=NM_015540;refseq.name2=RPAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1035R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=67;refseq.start=39600571;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr15 39601721 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00478617;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2762C>G;refseq.codonCoord=921;refseq.end=39601721;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2886;refseq.name=NM_015540;refseq.name2=RPAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A921G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=20;refseq.start=39601721;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 39602808 . G C 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=21.69;MQ=97.35;MQ0=0;OQ=5799.84;QD=36.94;RankSumP=1.00000;SB=-56.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2473C>G;refseq.codonCoord=825;refseq.end=39602808;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2597;refseq.name=NM_015540;refseq.name2=RPAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q825E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=39602808;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 39616522 . A G 99.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=399;Dels=0.00;HRun=0;HaplotypeScore=16.86;MQ=98.67;MQ0=0;OQ=14598.17;QD=36.59;RankSumP=1.00000;SB=-2550.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.94T>C;refseq.codonCoord=32;refseq.end=39616522;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_015540;refseq.name2=RPAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L32L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-88;refseq.start=39616522;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 39647782 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=91.06;MQ0=0;OQ=1692.07;QD=19.45;RankSumP=0.0886844;SB=-362.10;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1037T>A;refseq.codonCoord=346;refseq.end=39647782;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_006293;refseq.name2=TYRO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I346N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-71;refseq.start=39647782;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr15 39650594 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1646T>G;refseq.codonCoord=549;refseq.end=39650594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1870;refseq.name=NM_006293;refseq.name2=TYRO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V549G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-15;refseq.start=39650594;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 39854773 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.8T>G;refseq.codingCoordStr_2=c.8T>G;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=39854773;refseq.end_2=39854773;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=294;refseq.mrnaCoord_2=294;refseq.name2_1=MAPKBP1;refseq.name2_2=MAPKBP1;refseq.name_1=NM_001128608;refseq.name_2=NM_014994;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V3G;refseq.proteinCoordStr_2=p.V3G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.start_1=39854773;refseq.start_2=39854773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr15 39854781 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.16T>G;refseq.codingCoordStr_2=c.16T>G;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=39854781;refseq.end_2=39854781;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=302;refseq.name2_1=MAPKBP1;refseq.name2_2=MAPKBP1;refseq.name_1=NM_001128608;refseq.name_2=NM_014994;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S6A;refseq.proteinCoordStr_2=p.S6A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.start_1=39854781;refseq.start_2=39854781;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 1/0 chr15 39891535 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.416G>T;refseq.codingCoordStr_2=c.416G>T;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.end_1=39891535;refseq.end_2=39891535;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=702;refseq.name2_1=MAPKBP1;refseq.name2_2=MAPKBP1;refseq.name_1=NM_001128608;refseq.name_2=NM_014994;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C139F;refseq.proteinCoordStr_2=p.C139F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=39891535;refseq.start_2=39891535;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr15 39893210 . C G 366.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=98.76;MQ0=0;OQ=6097.20;QD=19.93;RankSumP=0.315495;SB=-2003.33;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.937C>G;refseq.codingCoordStr_2=c.919C>G;refseq.codonCoord_1=313;refseq.codonCoord_2=307;refseq.end_1=39893210;refseq.end_2=39893210;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1223;refseq.mrnaCoord_2=1205;refseq.name2_1=MAPKBP1;refseq.name2_2=MAPKBP1;refseq.name_1=NM_001128608;refseq.name_2=NM_014994;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L313V;refseq.proteinCoordStr_2=p.L307V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=39893210;refseq.start_2=39893210;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr15 39896515 . T C 214.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.38;MQ0=0;OQ=1160.67;QD=16.58;RankSumP=0.460170;SB=-219.00;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1719T>C;refseq.codingCoordStr_2=c.1701T>C;refseq.codonCoord_1=573;refseq.codonCoord_2=567;refseq.end_1=39896515;refseq.end_2=39896515;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2005;refseq.mrnaCoord_2=1987;refseq.name2_1=MAPKBP1;refseq.name2_2=MAPKBP1;refseq.name_1=NM_001128608;refseq.name_2=NM_014994;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V573V;refseq.proteinCoordStr_2=p.V567V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=39896515;refseq.start_2=39896515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr15 39921389 . C T 237.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=98.78;MQ0=0;OQ=803.87;QD=17.10;RankSumP=0.517292;SB=-416.91;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.571C>T;refseq.codingCoordStr_3=c.1264C>T;refseq.codonCoord_2=191;refseq.codonCoord_3=422;refseq.end_1=39921389;refseq.end_2=39921389;refseq.end_3=39921389;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4783;refseq.mrnaCoord_2=672;refseq.mrnaCoord_3=1304;refseq.name2_1=JMJD7-PLA2G4B;refseq.name2_2=PLA2G4B;refseq.name2_3=JMJD7-PLA2G4B;refseq.name_1=NR_015346;refseq.name_2=NM_001114633;refseq.name_3=NM_005090;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R191C;refseq.proteinCoordStr_3=p.R422C;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=39921389;refseq.start_2=39921389;refseq.start_3=39921389;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr15 39923280 . C T 301.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.89;MQ0=0;OQ=2050.00;QD=33.06;RankSumP=1.00000;SB=-863.12;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.858C>T;refseq.codingCoordStr_3=c.1551C>T;refseq.codonCoord_2=286;refseq.codonCoord_3=517;refseq.end_1=39923280;refseq.end_2=39923280;refseq.end_3=39923280;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5445;refseq.mrnaCoord_2=959;refseq.mrnaCoord_3=1591;refseq.name2_1=JMJD7-PLA2G4B;refseq.name2_2=PLA2G4B;refseq.name2_3=JMJD7-PLA2G4B;refseq.name_1=NR_015346;refseq.name_2=NM_001114633;refseq.name_3=NM_005090;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D286D;refseq.proteinCoordStr_3=p.D517D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=39923280;refseq.start_2=39923280;refseq.start_3=39923280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr15 39925748 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=458;Dels=0.00;HRun=1;HaplotypeScore=11.99;MQ=98.75;MQ0=0;OQ=9247.08;QD=20.19;RankSumP=0.00269830;SB=-3891.75;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.1656G>A;refseq.codingCoordStr_3=c.2349G>A;refseq.codonCoord_2=552;refseq.codonCoord_3=783;refseq.end_1=39925748;refseq.end_2=39925748;refseq.end_3=39925748;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6243;refseq.mrnaCoord_2=1757;refseq.mrnaCoord_3=2389;refseq.name2_1=JMJD7-PLA2G4B;refseq.name2_2=PLA2G4B;refseq.name2_3=JMJD7-PLA2G4B;refseq.name_1=NR_015346;refseq.name_2=NM_001114633;refseq.name_3=NM_005090;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R552R;refseq.proteinCoordStr_3=p.R783R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=39925748;refseq.start_2=39925748;refseq.start_3=39925748;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=filterInsoap-gatk GT 1/0 chr15 39926934 . C T 104 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.94;MQ0=0;OQ=1004.61;QD=19.70;RankSumP=0.115784;SB=-275.74;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.2055C>T;refseq.codingCoordStr_3=c.2748C>T;refseq.codonCoord_2=685;refseq.codonCoord_3=916;refseq.end_1=39926934;refseq.end_2=39926934;refseq.end_3=39926934;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=6642;refseq.mrnaCoord_2=2156;refseq.mrnaCoord_3=2788;refseq.name2_1=JMJD7-PLA2G4B;refseq.name2_2=PLA2G4B;refseq.name2_3=JMJD7-PLA2G4B;refseq.name_1=NR_015346;refseq.name_2=NM_001114633;refseq.name_3=NM_005090;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S685S;refseq.proteinCoordStr_3=p.S916S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.spliceDist_3=-80;refseq.start_1=39926934;refseq.start_2=39926934;refseq.start_3=39926934;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr15 39998778 . A G 307.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=99.00;MQ0=0;OQ=2075.54;QD=19.04;RankSumP=0.497635;SB=-1053.98;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.846T>C;refseq.codonCoord=282;refseq.end=39998778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=909;refseq.name=NM_139265;refseq.name2=EHD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F282F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-79;refseq.start=39998778;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr15 40022608 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=99.00;MQ0=0;OQ=799.23;QD=10.25;RankSumP=0.437278;SB=-271.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.460G>A;refseq.codonCoord=154;refseq.end=40022608;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_139265;refseq.name2=EHD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V154I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=47;refseq.start=40022608;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr15 40149506 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.125000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2123A>C;refseq.codonCoord=708;refseq.end=40149506;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_178034;refseq.name2=PLA2G4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.H708P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=80;refseq.start=40149506;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 40150620 . G A 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.78;MQ0=0;OQ=227.04;QD=9.87;RankSumP=0.212166;SB=-76.05;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1869C>T;refseq.codonCoord=623;refseq.end=40150620;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_178034;refseq.name2=PLA2G4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T623T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=40150620;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr15 40159044 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=99.00;MQ0=0;OQ=608.34;QD=13.52;RankSumP=0.184485;SB=-142.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1300T>A;refseq.codonCoord=434;refseq.end=40159044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1395;refseq.name=NM_178034;refseq.name2=PLA2G4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.S434T;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-18;refseq.start=40159044;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr15 40161102 . G C 344.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.54;MQ0=0;OQ=3138.91;QD=19.99;RankSumP=0.0927091;SB=-1377.46;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.824C>G;refseq.codonCoord=275;refseq.end=40161102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_178034;refseq.name2=PLA2G4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P275R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=40161102;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr15 40221546 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=11.94;MQ=97.83;MQ0=0;OQ=1333.77;QD=10.84;RankSumP=0.328653;SB=-335.26;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.2478C>T;refseq.codonCoord_2=826;refseq.end_1=40221546;refseq.end_2=40221546;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2497;refseq.mrnaCoord_2=2570;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N826N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=40221546;refseq.start_2=40221546;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr15 40221577 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.2447T>G;refseq.codonCoord_2=816;refseq.end_1=40221577;refseq.end_2=40221577;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2466;refseq.mrnaCoord_2=2539;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V816G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=40221577;refseq.start_2=40221577;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 40222129 . T C 361.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=98.79;MQ0=0;OQ=4691.89;QD=18.05;RankSumP=0.252273;SB=-1802.67;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.2218A>G;refseq.codonCoord_2=740;refseq.end_1=40222129;refseq.end_2=40222129;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2237;refseq.mrnaCoord_2=2310;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M740V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.start_1=40222129;refseq.start_2=40222129;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr15 40226668 . G A 257.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=98.68;MQ0=0;OQ=1622.69;QD=15.45;RankSumP=0.0650697;SB=-733.28;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1365C>T;refseq.codonCoord_2=455;refseq.end_1=40226668;refseq.end_2=40226668;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1384;refseq.mrnaCoord_2=1457;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S455S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=40226668;refseq.start_2=40226668;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr15 40227213 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.000773025;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1099C>G;refseq.codonCoord_2=367;refseq.end_1=40227213;refseq.end_2=40227213;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1118;refseq.mrnaCoord_2=1191;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R367G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=40227213;refseq.start_2=40227213;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr15 40227236 . A C 42 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.00186579;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1076T>G;refseq.codonCoord_2=359;refseq.end_1=40227236;refseq.end_2=40227236;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1095;refseq.mrnaCoord_2=1168;refseq.name2_1=PLA2G4F;refseq.name2_2=PLA2G4F;refseq.name_1=NR_033151;refseq.name_2=NM_213600;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V359G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=40227236;refseq.start_2=40227236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 40308200 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr15;refseq.codingCoordStr=c.1240+2;refseq.end=40308200;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_015497;refseq.name2=TMEM87A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=40308200;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr15 40355839 . C G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.63;MQ0=0;OQ=4155.87;QD=49.47;RankSumP=1.00000;SB=-1162.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.31C>G;refseq.codonCoord=11;refseq.end=40355839;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_198141;refseq.name2=GANC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=40355839;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr15 40358010 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=2;HaplotypeScore=7.64;MQ=98.72;MQ0=0;OQ=10089.96;QD=38.51;RankSumP=1.00000;SB=-4557.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.131A>G;refseq.codonCoord=44;refseq.end=40358010;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_198141;refseq.name2=GANC;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q44R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=39;refseq.start=40358010;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr15 40367240 . T C 449.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.84;MQ0=0;OQ=8187.62;QD=38.08;RankSumP=1.00000;SB=-2269.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.261T>C;refseq.codonCoord=87;refseq.end=40367240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_198141;refseq.name2=GANC;refseq.positionType=CDS;refseq.proteinCoordStr=p.N87N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=60;refseq.start=40367240;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr15 40405823 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=607;Dels=0.00;HRun=1;HaplotypeScore=19.30;MQ=98.91;MQ0=0;OQ=11118.55;QD=18.32;RankSumP=0.214644;SB=-4115.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1329T>A;refseq.codonCoord=443;refseq.end=40405823;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1643;refseq.name=NM_198141;refseq.name2=GANC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D443E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=36;refseq.start=40405823;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr15 40419342 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2027T>C;refseq.codonCoord=676;refseq.end=40419342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2341;refseq.name=NM_198141;refseq.name2=GANC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L676P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-61;refseq.start=40419342;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 40530322 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1371T>C;refseq.codonCoord=457;refseq.end=40530322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1698;refseq.name=NM_022473;refseq.name2=ZFP106;refseq.positionType=CDS;refseq.proteinCoordStr=p.C457C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1062;refseq.start=40530322;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr15 40810488 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1934T>C;refseq.codonCoord=645;refseq.end=40810488;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2051;refseq.name=NM_138477;refseq.name2=CDAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F645S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=74;refseq.start=40810488;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr15 40810699 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr15;refseq.codingCoordStr=c.1860+2;refseq.end=40810699;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_138477;refseq.name2=CDAN1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=40810699;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr15 40811863 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1493A>C;refseq.codonCoord=498;refseq.end=40811863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_138477;refseq.name2=CDAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H498P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=36;refseq.start=40811863;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 40825309 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3711G>C;refseq.codonCoord=1237;refseq.end=40825309;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4150;refseq.name=NM_173500;refseq.name2=TTBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1237N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=439;refseq.start=40825309;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr15 40825447 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3573T>C;refseq.codonCoord=1191;refseq.end=40825447;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4012;refseq.name=NM_173500;refseq.name2=TTBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1191P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=301;refseq.start=40825447;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr15 40896570 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.555T>G;refseq.codonCoord=185;refseq.end=40896570;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_173500;refseq.name2=TTBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G185G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=18;refseq.start=40896570;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 40919892 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.249T>G;refseq.codonCoord=83;refseq.end=40919892;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_173500;refseq.name2=TTBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C83W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=32;refseq.start=40919892;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr15 40958085 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=410;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=97.69;MQ0=0;OQ=15697.11;QD=38.29;RankSumP=1.00000;SB=-7665.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.23T>C;refseq.codonCoord=8;refseq.end=40958085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_173500;refseq.name2=TTBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-47;refseq.start=40958085;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr15 41315306 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1121T>G;refseq.codingCoordStr_2=c.1367T>G;refseq.codonCoord_1=374;refseq.codonCoord_2=456;refseq.end_1=41315306;refseq.end_2=41315306;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1129;refseq.mrnaCoord_2=1375;refseq.name2_1=TGM5;refseq.name2_2=TGM5;refseq.name_1=NM_004245;refseq.name_2=NM_201631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V374G;refseq.proteinCoordStr_2=p.V456G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=41315306;refseq.start_2=41315306;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 41318703 . G C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=480;Dels=0.00;HRun=1;HaplotypeScore=10.59;MQ=98.60;MQ0=0;OQ=22758.12;QD=47.41;RankSumP=1.00000;SB=-9418.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.809C>G;refseq.codingCoordStr_2=c.1055C>G;refseq.codonCoord_1=270;refseq.codonCoord_2=352;refseq.end_1=41318703;refseq.end_2=41318703;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=817;refseq.mrnaCoord_2=1063;refseq.name2_1=TGM5;refseq.name2_2=TGM5;refseq.name_1=NM_004245;refseq.name_2=NM_201631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A270G;refseq.proteinCoordStr_2=p.A352G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=41318703;refseq.start_2=41318703;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr15 41333020 . G A 465.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=97.86;MQ0=0;OQ=5890.21;QD=40.34;RankSumP=1.00000;SB=-2136.80;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.414C>T;refseq.codingCoordStr_2=c.660C>T;refseq.codonCoord_1=138;refseq.codonCoord_2=220;refseq.end_1=41333020;refseq.end_2=41333020;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=668;refseq.name2_1=TGM5;refseq.name2_2=TGM5;refseq.name_1=NM_004245;refseq.name_2=NM_201631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y138Y;refseq.proteinCoordStr_2=p.Y220Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=41333020;refseq.start_2=41333020;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr15 41358682 . C G 325.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.81;MQ0=0;OQ=7101.03;QD=42.78;RankSumP=1.00000;SB=-3373.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1764G>C;refseq.codonCoord=588;refseq.end=41358682;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_052955;refseq.name2=TGM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A588A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-76;refseq.start=41358682;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 41366858 . A G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=20.57;MQ=98.33;MQ0=0;OQ=4591.14;QD=29.43;RankSumP=1.00000;SB=-1515.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.777T>C;refseq.codonCoord=259;refseq.end=41366858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_052955;refseq.name2=TGM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S259S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-89;refseq.start=41366858;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr15 41409239 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=16.71;MQ=98.92;MQ0=0;OQ=2066.59;QD=11.42;RankSumP=0.0278558;SB=-939.34;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=41409239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=945;refseq.name=NM_014793;refseq.name2=LCMT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R247R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=945;refseq.start=41409239;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr15 41409557 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.75;MQ0=0;OQ=363.01;QD=7.89;RankSumP=0.209436;SB=-153.58;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.423G>T;refseq.codonCoord=141;refseq.end=41409557;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_014793;refseq.name2=LCMT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R141S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=627;refseq.start=41409557;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr15 41419841 . T C 255.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=6257.87;QD=36.60;RankSumP=1.00000;SB=-1564.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.342T>C;refseq.codingCoordStr_2=c.342T>C;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=41419841;refseq.end_2=41419841;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=815;refseq.mrnaCoord_2=916;refseq.name2_1=ADAL;refseq.name2_2=ADAL;refseq.name_1=NM_001012969;refseq.name_2=NM_001159280;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T114T;refseq.proteinCoordStr_2=p.T114T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=41419841;refseq.start_2=41419841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr15 41440614 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=718.66;QD=15.29;RankSumP=0.626194;SB=-23.48;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2508C>T;refseq.codonCoord=836;refseq.end=41440614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2655;refseq.name=NM_152455;refseq.name2=ZSCAN29;refseq.positionType=CDS;refseq.proteinCoordStr=p.H836H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=818;refseq.start=41440614;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr15 41445949 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.873C>T;refseq.codonCoord=291;refseq.end=41445949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_152455;refseq.name2=ZSCAN29;refseq.positionType=CDS;refseq.proteinCoordStr=p.F291F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=350;refseq.start=41445949;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr15 41446227 . C T 201.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.84;MQ0=0;OQ=8940.19;QD=20.46;RankSumP=0.0500435;SB=-3595.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.595G>A;refseq.codonCoord=199;refseq.end=41446227;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_152455;refseq.name2=ZSCAN29;refseq.positionType=CDS;refseq.proteinCoordStr=p.G199S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=72;refseq.start=41446227;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr15 41449094 . T C 307.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=98.93;MQ0=0;OQ=11758.91;QD=41.26;RankSumP=1.00000;SB=-4491.06;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.310A>G;refseq.codonCoord=104;refseq.end=41449094;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_152455;refseq.name2=ZSCAN29;refseq.positionType=CDS;refseq.proteinCoordStr=p.R104G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=41449094;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr15 41492663 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.5245G>C;refseq.codingCoordStr_2=c.5251G>C;refseq.codingCoordStr_3=c.5236G>C;refseq.codonCoord_1=1749;refseq.codonCoord_2=1751;refseq.codonCoord_3=1746;refseq.end_1=41492663;refseq.end_2=41492663;refseq.end_3=41492663;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5358;refseq.mrnaCoord_2=5364;refseq.mrnaCoord_3=5384;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1749P;refseq.proteinCoordStr_2=p.A1751P;refseq.proteinCoordStr_3=p.A1746P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.start_1=41492663;refseq.start_2=41492663;refseq.start_3=41492663;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr15 41495100 . A T 208.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=8.12;MQ=98.61;MQ0=0;OQ=8039.98;QD=16.34;RankSumP=0.0891750;SB=-2336.31;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.5073T>A;refseq.codingCoordStr_2=c.5073T>A;refseq.codingCoordStr_3=c.5058T>A;refseq.codonCoord_1=1691;refseq.codonCoord_2=1691;refseq.codonCoord_3=1686;refseq.end_1=41495100;refseq.end_2=41495100;refseq.end_3=41495100;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5186;refseq.mrnaCoord_2=5186;refseq.mrnaCoord_3=5206;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S1691S;refseq.proteinCoordStr_2=p.S1691S;refseq.proteinCoordStr_3=p.S1686S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=41495100;refseq.start_2=41495100;refseq.start_3=41495100;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 0/1 chr15 41511938 . T G 115.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=499;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.76;MQ0=0;OQ=20423.01;QD=40.93;RankSumP=1.00000;SB=-10069.36;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3421A>C;refseq.codingCoordStr_2=c.3421A>C;refseq.codingCoordStr_3=c.3406A>C;refseq.codonCoord_1=1141;refseq.codonCoord_2=1141;refseq.codonCoord_3=1136;refseq.end_1=41511938;refseq.end_2=41511938;refseq.end_3=41511938;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3534;refseq.mrnaCoord_2=3534;refseq.mrnaCoord_3=3554;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K1141Q;refseq.proteinCoordStr_2=p.K1141Q;refseq.proteinCoordStr_3=p.K1136Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=230;refseq.spliceDist_2=230;refseq.spliceDist_3=230;refseq.start_1=41511938;refseq.start_2=41511938;refseq.start_3=41511938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr15 41535596 . A G 162.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=9.47;MQ=98.98;MQ0=0;OQ=20438.11;QD=40.55;RankSumP=1.00000;SB=-9306.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2502T>C;refseq.codingCoordStr_2=c.2502T>C;refseq.codingCoordStr_3=c.2487T>C;refseq.codonCoord_1=834;refseq.codonCoord_2=834;refseq.codonCoord_3=829;refseq.end_1=41535596;refseq.end_2=41535596;refseq.end_3=41535596;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2615;refseq.mrnaCoord_2=2615;refseq.mrnaCoord_3=2635;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D834D;refseq.proteinCoordStr_2=p.D834D;refseq.proteinCoordStr_3=p.D829D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-215;refseq.spliceDist_2=-215;refseq.spliceDist_3=-215;refseq.start_1=41535596;refseq.start_2=41535596;refseq.start_3=41535596;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr15 41549488 . C T 315.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.93;MQ0=0;OQ=6114.93;QD=21.53;RankSumP=0.456389;SB=-2038.74;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1249G>A;refseq.codingCoordStr_2=c.1249G>A;refseq.codingCoordStr_3=c.1234G>A;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.codonCoord_3=412;refseq.end_1=41549488;refseq.end_2=41549488;refseq.end_3=41549488;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1362;refseq.mrnaCoord_2=1362;refseq.mrnaCoord_3=1382;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G417S;refseq.proteinCoordStr_2=p.G417S;refseq.proteinCoordStr_3=p.G412S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=41549488;refseq.start_2=41549488;refseq.start_3=41549488;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr15 41555066 . G C 163.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.53;MQ0=0;OQ=2646.27;QD=47.25;RankSumP=1.00000;SB=-735.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1074C>G;refseq.codingCoordStr_2=c.1074C>G;refseq.codingCoordStr_3=c.1059C>G;refseq.codonCoord_1=358;refseq.codonCoord_2=358;refseq.codonCoord_3=353;refseq.end_1=41555066;refseq.end_2=41555066;refseq.end_3=41555066;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1187;refseq.mrnaCoord_2=1187;refseq.mrnaCoord_3=1207;refseq.name2_1=TP53BP1;refseq.name2_2=TP53BP1;refseq.name2_3=TP53BP1;refseq.name_1=NM_001141979;refseq.name_2=NM_001141980;refseq.name_3=NM_005657;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D358E;refseq.proteinCoordStr_2=p.D358E;refseq.proteinCoordStr_3=p.D353E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.start_1=41555066;refseq.start_2=41555066;refseq.start_3=41555066;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/1 chr15 41603291 . C T 122.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=95.82;MQ0=0;OQ=1086.36;QD=14.68;RankSumP=0.282856;SB=-33.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2328C>T;refseq.codonCoord=776;refseq.end=41603291;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2795;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P776P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=2478;refseq.start=41603291;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr15 41603327 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2364A>C;refseq.codonCoord=788;refseq.end=41603327;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2831;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q788H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=2514;refseq.start=41603327;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr15 41603416 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.34339e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2453C>G;refseq.codonCoord=818;refseq.end=41603416;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2920;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A818G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=2603;refseq.start=41603416;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr15 41604209 . G A 382.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2811.32;QD=41.96;RankSumP=1.00000;SB=-967.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3246G>A;refseq.codonCoord=1082;refseq.end=41604209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3713;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1082G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=3396;refseq.start=41604209;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr15 41604696 . G A 240.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=97.81;MQ0=0;OQ=2677.68;QD=17.85;RankSumP=0.470914;SB=-1100.58;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3733G>A;refseq.codonCoord=1245;refseq.end=41604696;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4200;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1245N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=3883;refseq.start=41604696;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr15 41604698 . T C 418.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.75;MQ0=0;OQ=5425.72;QD=36.91;RankSumP=1.00000;SB=-2235.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3735T>C;refseq.codonCoord=1245;refseq.end=41604698;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4202;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1245D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=3885;refseq.start=41604698;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr15 41605344 . G A 163.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1668.48;QD=17.56;RankSumP=0.316691;SB=-752.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4381G>A;refseq.codonCoord=1461;refseq.end=41605344;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4848;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1461N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-3655;refseq.start=41605344;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr15 41605371 . G A 122.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1944.95;QD=21.37;RankSumP=0.270156;SB=-835.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4408G>A;refseq.codonCoord=1470;refseq.end=41605371;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4875;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1470T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-3628;refseq.start=41605371;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr15 41609281 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.8177A>C;refseq.codonCoord=2726;refseq.end=41609281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8644;refseq.name=NM_002373;refseq.name2=MAP1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2726A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-80;refseq.start=41609281;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr15 41680139 . G C 105.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=81.04;MQ0=23;OQ=4818.62;QD=14.30;RankSumP=0.159234;SB=-1870.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4878C>G;refseq.codonCoord=1626;refseq.end=41680139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4956;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1626L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=34;refseq.start=41680139;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr15 41680364 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=644;Dels=0.00;HRun=2;HaplotypeScore=17.34;MQ=80.35;MQ0=87;OQ=8488.63;QD=13.18;RankSumP=0.406800;SB=-2763.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4842C>T;refseq.codonCoord=1614;refseq.end=41680364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4920;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1614F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=41680364;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr15 41684165 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.285714;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4102C>T;refseq.codonCoord=1368;refseq.end=41684165;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4180;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1368L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-26;refseq.start=41684165;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 1/0 chr15 41684791 . T C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.65;MQ=30.38;MQ0=71;OQ=93.80;QD=1.17;RankSumP=0.365079;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3893A>G;refseq.codonCoord=1298;refseq.end=41684791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3971;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1298R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-38;refseq.start=41684791;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/0 chr15 41687445 . C T 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1277;Dels=0.00;HRun=1;HaplotypeScore=17.63;MQ=14.69;MQ0=897;OQ=7671.64;QD=6.01;RankSumP=1.00000;SB=-2307.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3702G>A;refseq.codonCoord=1234;refseq.end=41687445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3780;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1234E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=21;refseq.start=41687445;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/1 chr15 41687455 . A G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.114286;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3692T>C;refseq.codonCoord=1231;refseq.end=41687455;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3770;refseq.name=NM_153700;refseq.name2=STRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1231T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=11;refseq.start=41687455;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr15 41712426 rs56265533 T A 0.07 PASS AC=2;AF=1.00;AN=2;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=32.03;MQ0=230;OQ=1280.03;QD=4.87;SB=-10.00;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1179-8;refseq.codingCoordStr_2=c.1179-2;refseq.end_1=41712426;refseq.end_2=41712426;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CATSPER2;refseq.name2_2=CATSPER2;refseq.name_1=NM_054020;refseq.name_2=NM_172095;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-8;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-acceptor_-8;refseq.spliceInfo_2=splice-acceptor_-2;refseq.start_1=41712426;refseq.start_2=41712426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=gatk GT:AD:DP:GL:GQ 1/1:185,77:33:-131.59,-9.94,-0.00:99 chr15 41719253 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.597A>T;refseq.codingCoordStr_2=c.597A>T;refseq.codingCoordStr_3=c.*522A>T;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.end_1=41719253;refseq.end_2=41719253;refseq.end_3=41719253;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=812;refseq.mrnaCoord_2=812;refseq.mrnaCoord_3=1337;refseq.name2_1=CATSPER2;refseq.name2_2=CATSPER2;refseq.name2_3=CATSPER2;refseq.name_1=NM_054020;refseq.name_2=NM_172095;refseq.name_3=NM_172097;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.V199V;refseq.proteinCoordStr_2=p.V199V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=-328;refseq.start_1=41719253;refseq.start_2=41719253;refseq.start_3=41719253;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 1/0 chr15 41719986 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.166667;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.389A>G;refseq.codingCoordStr_2=c.389A>G;refseq.codingCoordStr_3=c.389A>G;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.codonCoord_3=130;refseq.end_1=41719986;refseq.end_2=41719986;refseq.end_3=41719986;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=604;refseq.mrnaCoord_3=604;refseq.name2_1=CATSPER2;refseq.name2_2=CATSPER2;refseq.name2_3=CATSPER2;refseq.name_1=NM_054020;refseq.name_2=NM_172095;refseq.name_3=NM_172097;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E130G;refseq.proteinCoordStr_2=p.E130G;refseq.proteinCoordStr_3=p.E130G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=41719986;refseq.start_2=41719986;refseq.start_3=41719986;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 1/0 chr15 41726934 . C T 328.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=93.99;MQ0=2;OQ=6838.06;QD=18.99;RankSumP=0.296728;SB=-2640.98;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.169G>A;refseq.codingCoordStr_2=c.169G>A;refseq.codingCoordStr_3=c.169G>A;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.end_1=41726934;refseq.end_2=41726934;refseq.end_3=41726934;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=384;refseq.mrnaCoord_2=384;refseq.mrnaCoord_3=384;refseq.name2_1=CATSPER2;refseq.name2_2=CATSPER2;refseq.name2_3=CATSPER2;refseq.name_1=NM_054020;refseq.name_2=NM_172095;refseq.name_3=NM_172097;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V57I;refseq.proteinCoordStr_2=p.V57I;refseq.proteinCoordStr_3=p.V57I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=41726934;refseq.start_2=41726934;refseq.start_3=41726934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 0/1 chr15 41856361 . G C 187.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.89;MQ0=0;OQ=849.62;QD=15.45;RankSumP=0.0934778;SB=-396.08;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.31C>G;refseq.codonCoord=11;refseq.end=41856361;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_025165;refseq.name2=ELL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q11E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-102;refseq.start=41856361;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr15 41881219 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=453;Dels=0.00;HRun=1;HaplotypeScore=26.84;MQ=98.64;MQ0=0;OQ=9071.62;QD=20.03;RankSumP=0.373693;SB=-2843.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.313T>C;refseq.codonCoord=105;refseq.end=41881219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_016400;refseq.name2=C15orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.S105P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=19;refseq.start=41881219;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr15 41889302 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=555;Dels=0.00;HRun=1;HaplotypeScore=17.39;MQ=98.90;MQ0=0;OQ=9969.26;QD=17.96;RankSumP=0.181051;SB=-3008.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.990T>G;refseq.codonCoord=330;refseq.end=41889302;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1174;refseq.name=NM_005926;refseq.name2=MFAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A330A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-58;refseq.start=41889302;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr15 41907851 . T G 312.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=98.91;MQ0=0;OQ=5134.30;QD=16.78;RankSumP=0.143400;SB=-1116.30;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.265T>G;refseq.codingCoordStr_2=c.457T>G;refseq.codonCoord_1=89;refseq.codonCoord_2=153;refseq.end_1=41907851;refseq.end_2=41907851;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=466;refseq.mrnaCoord_2=576;refseq.name2_1=WDR76;refseq.name2_2=WDR76;refseq.name_1=NM_001167941;refseq.name_2=NM_024908;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S89A;refseq.proteinCoordStr_2=p.S153A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=41907851;refseq.start_2=41907851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr15 41985341 . A G 115.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=1;HaplotypeScore=11.49;MQ=98.85;MQ0=0;OQ=8695.22;QD=18.42;RankSumP=0.492842;SB=-2601.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.528T>C;refseq.codonCoord=176;refseq.end=41985341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_032892;refseq.name2=FRMD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A176A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-24;refseq.start=41985341;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr15 42834426 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=591;Dels=0.00;HRun=1;HaplotypeScore=7.01;MQ=98.85;MQ0=0;OQ=11887.69;QD=20.11;RankSumP=0.357121;SB=-4922.53;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.43G>A;refseq.codonCoord_2=15;refseq.end_1=42835847;refseq.end_2=42834426;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=386;refseq.name2_1=TRIM69;refseq.name2_2=TRIM69;refseq.name_1=NM_080745;refseq.name_2=NM_182985;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D15N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=37;refseq.start_1=42816211;refseq.start_2=42834426;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr15 42834865 . C T 417.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5670.99;QD=42.64;RankSumP=1.00000;SB=-1807.31;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.482C>T;refseq.codonCoord_2=161;refseq.end_1=42835847;refseq.end_2=42834865;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=825;refseq.name2_1=TRIM69;refseq.name2_2=TRIM69;refseq.name_1=NM_080745;refseq.name_2=NM_182985;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T161M;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=42816211;refseq.start_2=42834865;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr15 43041044 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.377268;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.318G>A;refseq.codonCoord=106;refseq.end=43041044;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_152448;refseq.name2=C15orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.W106*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-31;refseq.start=43041044;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr15 43045708 . G T 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.733978;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.409G>T;refseq.codonCoord=137;refseq.end=43045708;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_152448;refseq.name2=C15orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.E137*;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-26;refseq.start=43045708;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=soap GT 0/1 chr15 43148472 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=7.90;MQ=89.78;MQ0=3;OQ=1167.27;QD=12.69;RankSumP=0.412315;SB=-192.66;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.716A>T;refseq.codonCoord=239;refseq.end=43148472;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_003104;refseq.name2=SORD;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q239L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-71;refseq.start=43148472;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr15 43153016 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=526;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=80.09;MQ0=112;OQ=4875.49;QD=9.27;RankSumP=0.215179;SB=-1758.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1070C>T;refseq.codonCoord=357;refseq.end=43153016;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1211;refseq.name=NM_003104;refseq.name2=SORD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P357L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=162;refseq.start=43153016;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr15 43179367 . G A 262 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.84;MQ0=0;OQ=5086.54;QD=38.24;RankSumP=1.00000;SB=-472.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3200C>T;refseq.codonCoord=1067;refseq.end=43179367;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3403;refseq.name=NM_014080;refseq.name2=DUOX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1067L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=16;refseq.start=43179367;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr15 43187650 . C G 338.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.62;MQ0=0;OQ=5360.56;QD=42.54;RankSumP=1.00000;SB=-2295.83;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1461G>C;refseq.codonCoord=487;refseq.end=43187650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_014080;refseq.name2=DUOX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G487G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=63;refseq.start=43187650;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 43191358 . G A 77.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=16.14;MQ=97.16;MQ0=0;OQ=4878.04;QD=39.66;RankSumP=1.00000;SB=-1884.40;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.413C>T;refseq.codonCoord=138;refseq.end=43191358;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_014080;refseq.name2=DUOX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P138L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=88;refseq.start=43191358;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr15 43192513 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.000327185;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.124T>G;refseq.codonCoord=42;refseq.end=43192513;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_014080;refseq.name2=DUOX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F42V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-37;refseq.start=43192513;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr15 43195706 . C G 141.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=1.41;MQ=98.24;MQ0=0;OQ=4420.60;QD=44.65;RankSumP=1.00000;SB=-447.20;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.298C>G;refseq.codonCoord=100;refseq.end=43195706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_207581;refseq.name2=DUOXA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R100G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-43;refseq.start=43195706;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr15 43197077 . A T 14.58 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;QD=1.33;RankSumP=0.214286;SB=-22.31;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1380T>A;refseq.codonCoord_2=460;refseq.end_1=43197195;refseq.end_2=43197077;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1780;refseq.name2_1=DUOXA2;refseq.name2_2=DUOXA1;refseq.name_1=NM_207581;refseq.name_2=NM_144565;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R460R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=-100;refseq.start_1=43196806;refseq.start_2=43197077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=FilteredInAll GT 0/1 chr15 43201726 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=4.92151e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.154T>G;refseq.codonCoord=52;refseq.end=43201726;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_144565;refseq.name2=DUOXA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F52V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=43201726;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr15 43231810 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=11.97;MQ=98.49;MQ0=0;OQ=2961.20;QD=12.29;RankSumP=0.337422;SB=-388.21;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3228A>G;refseq.codingCoordStr_2=c.3228A>G;refseq.codonCoord_1=1076;refseq.codonCoord_2=1076;refseq.end_1=43231810;refseq.end_2=43231810;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3574;refseq.mrnaCoord_2=3382;refseq.name2_1=DUOX1;refseq.name2_2=DUOX1;refseq.name_1=NM_017434;refseq.name_2=NM_175940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1076T;refseq.proteinCoordStr_2=p.T1076T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=43231810;refseq.start_2=43231810;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr15 43233448 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=17.55;MQ=97.59;MQ0=0;OQ=5418.30;QD=20.92;RankSumP=0.000289018;SB=-1917.22;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3532C>T;refseq.codingCoordStr_2=c.3532C>T;refseq.codonCoord_1=1178;refseq.codonCoord_2=1178;refseq.end_1=43233448;refseq.end_2=43233448;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3878;refseq.mrnaCoord_2=3686;refseq.name2_1=DUOX1;refseq.name2_2=DUOX1;refseq.name_1=NM_017434;refseq.name_2=NM_175940;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1178F;refseq.proteinCoordStr_2=p.L1178F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=43233448;refseq.start_2=43233448;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=filterInsoap-gatk GT 0/1 chr15 43332770 . C T 198.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=97.14;MQ0=0;OQ=5975.77;QD=42.38;RankSumP=1.00000;SB=-2185.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.65C>T;refseq.codonCoord=22;refseq.end=43332770;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_004212;refseq.name2=SLC28A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P22L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-17;refseq.start=43332770;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 43341559 . C A 385.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.71;MQ0=0;OQ=7487.99;QD=39.00;RankSumP=1.00000;SB=-3652.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.225C>A;refseq.codonCoord=75;refseq.end=43341559;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_004212;refseq.name2=SLC28A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S75R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-38;refseq.start=43341559;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr15 43344246 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.690A>G;refseq.codonCoord=230;refseq.end=43344246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_004212;refseq.name2=SLC28A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G230G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-13;refseq.start=43344246;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 43482737 . C G 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=137.41;QD=17.18;RankSumP=0.100000;SB=-51.90;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.818C>G;refseq.codonCoord_2=273;refseq.end_1=43482737;refseq.end_2=43482737;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=927;refseq.name2_1=SPATA5L1;refseq.name2_2=SPATA5L1;refseq.name_1=NR_027635;refseq.name_2=NM_024063;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S273C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-272;refseq.spliceDist_2=-272;refseq.start_1=43482737;refseq.start_2=43482737;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr15 43512547 . C G 163.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=99.00;MQ0=0;OQ=1117.57;QD=18.03;RankSumP=0.730963;SB=-533.83;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.*41C>G;refseq.codingCoordStr_3=c.*41C>G;refseq.end_1=43512547;refseq.end_2=43512547;refseq.end_3=43512547;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=8;refseq.mrnaCoord_2=525;refseq.mrnaCoord_3=411;refseq.name2_1=MIR147B;refseq.name2_2=C15orf48;refseq.name2_3=C15orf48;refseq.name_1=NR_030599;refseq.name_2=NM_032413;refseq.name_3=NM_197955;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=8;refseq.spliceDist_2=110;refseq.spliceDist_3=110;refseq.spliceInfo_1=splice-acceptor_8;refseq.start_1=43512547;refseq.start_2=43512547;refseq.start_3=43512547;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/0 chr15 43567102 . G A 245.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=11.30;MQ=98.91;MQ0=0;OQ=6851.12;QD=23.30;RankSumP=0.465505;SB=-2061.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.915C>T;refseq.codonCoord=305;refseq.end=43567102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1227;refseq.name=NM_013309;refseq.name2=SLC30A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D305D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=21;refseq.start=43567102;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr15 45845363 . G A 179.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=98.85;MQ0=0;OQ=15894.49;QD=41.18;RankSumP=1.00000;SB=-6141.91;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_1=c.1433G>A;refseq.codingCoordStr_2=c.1433G>A;refseq.codingCoordStr_3=c.1433G>A;refseq.codingCoordStr_4=c.1433G>A;refseq.codingCoordStr_5=c.1433G>A;refseq.codonCoord_1=478;refseq.codonCoord_2=478;refseq.codonCoord_3=478;refseq.codonCoord_4=478;refseq.codonCoord_5=478;refseq.end_1=45845363;refseq.end_2=45845363;refseq.end_3=45845363;refseq.end_4=45845363;refseq.end_5=45845363;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1872;refseq.mrnaCoord_2=1872;refseq.mrnaCoord_3=1872;refseq.mrnaCoord_4=1872;refseq.mrnaCoord_5=1872;refseq.name2_1=SEMA6D;refseq.name2_2=SEMA6D;refseq.name2_3=SEMA6D;refseq.name2_4=SEMA6D;refseq.name2_5=SEMA6D;refseq.name_1=NM_020858;refseq.name_2=NM_153616;refseq.name_3=NM_153617;refseq.name_4=NM_153618;refseq.name_5=NM_153619;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S478N;refseq.proteinCoordStr_2=p.S478N;refseq.proteinCoordStr_3=p.S478N;refseq.proteinCoordStr_4=p.S478N;refseq.proteinCoordStr_5=p.S478N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.referenceCodon_5=AGT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceDist_4=6;refseq.spliceDist_5=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.spliceInfo_4=splice-acceptor_6;refseq.spliceInfo_5=splice-acceptor_6;refseq.start_1=45845363;refseq.start_2=45845363;refseq.start_3=45845363;refseq.start_4=45845363;refseq.start_5=45845363;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 1/1 chr15 45845631 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_1=c.1606T>G;refseq.codingCoordStr_2=c.1606T>G;refseq.codingCoordStr_3=c.1606T>G;refseq.codingCoordStr_4=c.1606T>G;refseq.codingCoordStr_5=c.1606T>G;refseq.codonCoord_1=536;refseq.codonCoord_2=536;refseq.codonCoord_3=536;refseq.codonCoord_4=536;refseq.codonCoord_5=536;refseq.end_1=45845631;refseq.end_2=45845631;refseq.end_3=45845631;refseq.end_4=45845631;refseq.end_5=45845631;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2045;refseq.mrnaCoord_2=2045;refseq.mrnaCoord_3=2045;refseq.mrnaCoord_4=2045;refseq.mrnaCoord_5=2045;refseq.name2_1=SEMA6D;refseq.name2_2=SEMA6D;refseq.name2_3=SEMA6D;refseq.name2_4=SEMA6D;refseq.name2_5=SEMA6D;refseq.name_1=NM_020858;refseq.name_2=NM_153616;refseq.name_3=NM_153617;refseq.name_4=NM_153618;refseq.name_5=NM_153619;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L536V;refseq.proteinCoordStr_2=p.L536V;refseq.proteinCoordStr_3=p.L536V;refseq.proteinCoordStr_4=p.L536V;refseq.proteinCoordStr_5=p.L536V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.referenceCodon_4=TTA;refseq.referenceCodon_5=TTA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.spliceDist_4=38;refseq.spliceDist_5=38;refseq.start_1=45845631;refseq.start_2=45845631;refseq.start_3=45845631;refseq.start_4=45845631;refseq.start_5=45845631;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;set=FilteredInAll GT 1/0 chr15 45850368 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=303;Dels=0.00;HRun=2;HaplotypeScore=9.69;MQ=98.64;MQ0=0;OQ=11608.13;QD=38.31;RankSumP=1.00000;SB=-5420.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_1=c.2130T>C;refseq.codingCoordStr_2=c.2091T>C;refseq.codingCoordStr_3=c.2148T>C;refseq.codingCoordStr_4=c.2316T>C;refseq.codingCoordStr_5=c.*332T>C;refseq.codonCoord_1=710;refseq.codonCoord_2=697;refseq.codonCoord_3=716;refseq.codonCoord_4=772;refseq.end_1=45850368;refseq.end_2=45850368;refseq.end_3=45850368;refseq.end_4=45850368;refseq.end_5=45850368;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.mrnaCoord_1=2569;refseq.mrnaCoord_2=2530;refseq.mrnaCoord_3=2587;refseq.mrnaCoord_4=2755;refseq.mrnaCoord_5=2565;refseq.name2_1=SEMA6D;refseq.name2_2=SEMA6D;refseq.name2_3=SEMA6D;refseq.name2_4=SEMA6D;refseq.name2_5=SEMA6D;refseq.name_1=NM_020858;refseq.name_2=NM_153616;refseq.name_3=NM_153617;refseq.name_4=NM_153618;refseq.name_5=NM_153619;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.proteinCoordStr_1=p.P710P;refseq.proteinCoordStr_2=p.P697P;refseq.proteinCoordStr_3=p.P716P;refseq.proteinCoordStr_4=p.P772P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=383;refseq.spliceDist_2=383;refseq.spliceDist_3=383;refseq.spliceDist_4=383;refseq.spliceDist_5=383;refseq.start_1=45850368;refseq.start_2=45850368;refseq.start_3=45850368;refseq.start_4=45850368;refseq.start_5=45850368;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/1 chr15 46216313 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.732A>C;refseq.codonCoord=244;refseq.end=46216313;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=805;refseq.name=NM_205850;refseq.name2=SLC24A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q244H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-140;refseq.start=46216313;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr15 46230991 . T C 314.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=98.73;MQ0=0;OQ=6206.49;QD=38.79;RankSumP=1.00000;SB=-1983.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1277A>G;refseq.codonCoord=426;refseq.end=46230991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1401;refseq.name=NM_016132;refseq.name2=MYEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q426R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-30;refseq.start=46230991;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr15 46248219 . C T 310.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=5.07;MQ=98.76;MQ0=0;OQ=15776.30;QD=42.07;RankSumP=1.00000;SB=-4113.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.271G>A;refseq.codonCoord=91;refseq.end=46248219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_016132;refseq.name2=MYEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A91T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-100;refseq.start=46248219;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr15 46495087 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.7989T>G;refseq.codonCoord=2663;refseq.end=46495087;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8384;refseq.name=NM_000138;refseq.name2=FBN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2663W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-63;refseq.start=46495087;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr15 46594929 . C T 308.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.88;MQ0=0;OQ=14113.01;QD=40.21;RankSumP=1.00000;SB=-5614.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1415G>A;refseq.codonCoord=472;refseq.end=46594929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1810;refseq.name=NM_000138;refseq.name2=FBN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C472Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-54;refseq.start=46594929;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr15 46914426 . G A 234.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.77;MQ0=0;OQ=1334.75;QD=17.80;RankSumP=0.170804;SB=-556.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1569C>T;refseq.codonCoord=523;refseq.end=46914426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1998;refseq.name=NM_203349;refseq.name2=SHC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S523S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=86;refseq.start=46914426;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr15 46970262 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.695C>A;refseq.codonCoord=232;refseq.end=46970262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_203349;refseq.name2=SHC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A232E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-26;refseq.start=46970262;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr15 47562691 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.338T>G;refseq.codonCoord_2=113;refseq.end_1=47587689;refseq.end_2=47562691;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=867;refseq.name2_1=C15orf33;refseq.name2_2=FGF7;refseq.name_1=NM_152647;refseq.name_2=NM_002009;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V113G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=52;refseq.start_1=47450899;refseq.start_2=47562691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr15 47704710 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.271948;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.54A>C;refseq.codingCoordStr_2=c.54A>C;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=47704710;refseq.end_2=47704710;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=203;refseq.mrnaCoord_2=331;refseq.name2_1=DTWD1;refseq.name2_2=DTWD1;refseq.name_1=NM_001144955;refseq.name_2=NM_020234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K18N;refseq.proteinCoordStr_2=p.K18N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=47704710;refseq.start_2=47704710;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr15 47939875 . G T 239.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=4.45;MQ=98.88;MQ0=0;OQ=10103.51;QD=34.96;RankSumP=1.00000;SB=-4722.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3387C>A;refseq.codonCoord=1129;refseq.end=47939875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3529;refseq.name=NM_024837;refseq.name2=ATP8B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1129G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=90;refseq.start=47939875;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr15 47999864 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=140;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.93;MQ0=0;OQ=1755.37;QD=12.54;RankSumP=0.189987;SB=-426.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1794C>A;refseq.codonCoord=598;refseq.end=47999864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1936;refseq.name=NM_024837;refseq.name2=ATP8B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I598I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=36;refseq.start=47999864;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr15 48013605 . G T 73.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=232;Dels=0.00;HRun=1;HaplotypeScore=13.07;MQ=98.93;MQ0=0;OQ=8741.36;QD=37.68;RankSumP=1.00000;SB=-2513.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1354C>A;refseq.codonCoord=452;refseq.end=48013605;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_024837;refseq.name2=ATP8B4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H452N;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=67;refseq.start=48013605;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr15 48262058 . A C 136.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=96.46;MQ0=0;OQ=365.05;QD=15.21;RankSumP=0.275037;SB=-6.99;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.142A>C;refseq.codingCoordStr_2=c.142A>C;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=48262058;refseq.end_2=48262058;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=374;refseq.mrnaCoord_2=374;refseq.name2_1=SLC27A2;refseq.name2_2=SLC27A2;refseq.name_1=NM_001159629;refseq.name_2=NM_003645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K48Q;refseq.proteinCoordStr_2=p.K48Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-337;refseq.spliceDist_2=-337;refseq.start_1=48262058;refseq.start_2=48262058;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr15 48262192 . C T 102.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=97.83;MQ0=0;OQ=1096.96;QD=13.89;RankSumP=0.196490;SB=-530.73;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.276C>T;refseq.codingCoordStr_2=c.276C>T;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=48262192;refseq.end_2=48262192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=508;refseq.mrnaCoord_2=508;refseq.name2_1=SLC27A2;refseq.name2_2=SLC27A2;refseq.name_1=NM_001159629;refseq.name_2=NM_003645;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A92A;refseq.proteinCoordStr_2=p.A92A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-203;refseq.spliceDist_2=-203;refseq.start_1=48262192;refseq.start_2=48262192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr15 48282136 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.847+2;refseq.end_1=48284717;refseq.end_2=48282136;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=SLC27A2;refseq.name2_2=SLC27A2;refseq.name_1=NM_001159629;refseq.name_2=NM_003645;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_2=2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=48277209;refseq.start_2=48282136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr15 48342836 . G A 242.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=98.98;MQ0=0;OQ=7474.50;QD=20.70;RankSumP=0.373341;SB=-779.66;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.92C>T;refseq.codonCoord=31;refseq.end=48342836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_002112;refseq.name2=HDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=61;refseq.start=48342836;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr15 48561047 . G A 174.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=0.68;MQ=97.83;MQ0=0;OQ=6235.52;QD=42.42;RankSumP=1.00000;SB=-1040.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1296G>A;refseq.codingCoordStr_2=c.1296G>A;refseq.codingCoordStr_3=c.1296G>A;refseq.codonCoord_1=432;refseq.codonCoord_2=432;refseq.codonCoord_3=432;refseq.end_1=48561047;refseq.end_2=48561047;refseq.end_3=48561047;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1634;refseq.mrnaCoord_2=1796;refseq.mrnaCoord_3=1494;refseq.name2_1=USP8;refseq.name2_2=USP8;refseq.name2_3=USP8;refseq.name_1=NM_001128610;refseq.name_2=NM_001128611;refseq.name_3=NM_005154;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q432Q;refseq.proteinCoordStr_2=p.Q432Q;refseq.proteinCoordStr_3=p.Q432Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.spliceDist_3=78;refseq.start_1=48561047;refseq.start_2=48561047;refseq.start_3=48561047;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr15 48572242 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=334;Dels=0.00;HRun=2;HaplotypeScore=1.48;MQ=93.41;MQ0=9;OQ=181.69;QD=0.54;RankSumP=0.418399;SB=207.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2287C>T;refseq.codingCoordStr_2=c.2287C>T;refseq.codingCoordStr_3=c.2287C>T;refseq.codonCoord_1=763;refseq.codonCoord_2=763;refseq.codonCoord_3=763;refseq.end_1=48572242;refseq.end_2=48572242;refseq.end_3=48572242;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2625;refseq.mrnaCoord_2=2787;refseq.mrnaCoord_3=2485;refseq.name2_1=USP8;refseq.name2_2=USP8;refseq.name2_3=USP8;refseq.name_1=NM_001128610;refseq.name_2=NM_001128611;refseq.name_3=NM_005154;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R763W;refseq.proteinCoordStr_2=p.R763W;refseq.proteinCoordStr_3=p.R763W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=48572242;refseq.start_2=48572242;refseq.start_3=48572242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=soap-filterIngatk GT 0/1 chr15 48572247 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=347;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=92.15;MQ0=13;OQ=330.22;QD=0.95;RankSumP=0.473820;SB=89.92;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2292C>A;refseq.codingCoordStr_2=c.2292C>A;refseq.codingCoordStr_3=c.2292C>A;refseq.codonCoord_1=764;refseq.codonCoord_2=764;refseq.codonCoord_3=764;refseq.end_1=48572247;refseq.end_2=48572247;refseq.end_3=48572247;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2630;refseq.mrnaCoord_2=2792;refseq.mrnaCoord_3=2490;refseq.name2_1=USP8;refseq.name2_2=USP8;refseq.name2_3=USP8;refseq.name_1=NM_001128610;refseq.name_2=NM_001128611;refseq.name_3=NM_005154;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N764K;refseq.proteinCoordStr_2=p.N764K;refseq.proteinCoordStr_3=p.N764K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=48572247;refseq.start_2=48572247;refseq.start_3=48572247;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=soap-filterIngatk GT 1/0 chr15 48572346 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.458466;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2391C>T;refseq.codingCoordStr_2=c.2391C>T;refseq.codingCoordStr_3=c.2391C>T;refseq.codonCoord_1=797;refseq.codonCoord_2=797;refseq.codonCoord_3=797;refseq.end_1=48572346;refseq.end_2=48572346;refseq.end_3=48572346;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2729;refseq.mrnaCoord_2=2891;refseq.mrnaCoord_3=2589;refseq.name2_1=USP8;refseq.name2_2=USP8;refseq.name2_3=USP8;refseq.name_1=NM_001128610;refseq.name_2=NM_001128611;refseq.name_3=NM_005154;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N797N;refseq.proteinCoordStr_2=p.N797N;refseq.proteinCoordStr_3=p.N797N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=48572346;refseq.start_2=48572346;refseq.start_3=48572346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=soap GT 0/1 chr15 48684460 . T C 13.05 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=116;Dels=0.00;HRun=2;HaplotypeScore=1.15;MQ=98.70;MQ0=0;QD=0.11;RankSumP=0.00000;SB=185.65;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2883A>G;refseq.codonCoord=961;refseq.end=48684460;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3147;refseq.name=NM_017672;refseq.name2=TRPM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G961G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-106;refseq.start=48684460;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 48689427 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2304A>C;refseq.codonCoord=768;refseq.end=48689427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2568;refseq.name=NM_017672;refseq.name2=TRPM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P768P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=24;refseq.start=48689427;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 49316404 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=647;Dels=0.00;HRun=0;HaplotypeScore=38.40;MQ=98.62;MQ0=0;OQ=11568.90;QD=17.88;RankSumP=0.252815;SB=-4717.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.240A>G;refseq.codingCoordStr_2=c.240A>G;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.end_1=49316404;refseq.end_2=49316404;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=382;refseq.mrnaCoord_2=491;refseq.name2_1=CYP19A1;refseq.name2_2=CYP19A1;refseq.name_1=NM_000103;refseq.name_2=NM_031226;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V80V;refseq.proteinCoordStr_2=p.V80V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=49316404;refseq.start_2=49316404;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr15 49481105 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=608;Dels=0.00;HRun=1;HaplotypeScore=13.32;MQ=98.73;MQ0=0;OQ=11014.34;QD=18.12;RankSumP=0.220743;SB=-4557.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1051G>A;refseq.codonCoord=351;refseq.end=49481105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1220;refseq.name=NM_181789;refseq.name2=GLDN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D351N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=24;refseq.start=49481105;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr15 49545118 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2160.22;QD=14.21;RankSumP=0.294790;SB=-966.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.7543A>G;refseq.codingCoordStr_2=c.5632A>G;refseq.codingCoordStr_3=c.7540A>G;refseq.codonCoord_1=2515;refseq.codonCoord_2=1878;refseq.codonCoord_3=2514;refseq.end_1=49545118;refseq.end_2=49545118;refseq.end_3=49545118;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7768;refseq.mrnaCoord_2=5857;refseq.mrnaCoord_3=7765;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M2515V;refseq.proteinCoordStr_2=p.M1878V;refseq.proteinCoordStr_3=p.M2514V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=49545118;refseq.start_2=49545118;refseq.start_3=49545118;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr15 49553929 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.7117G>T;refseq.codingCoordStr_2=c.5206G>T;refseq.codingCoordStr_3=c.7114G>T;refseq.codonCoord_1=2373;refseq.codonCoord_2=1736;refseq.codonCoord_3=2372;refseq.end_1=49553929;refseq.end_2=49553929;refseq.end_3=49553929;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7342;refseq.mrnaCoord_2=5431;refseq.mrnaCoord_3=7339;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A2373S;refseq.proteinCoordStr_2=p.A1736S;refseq.proteinCoordStr_3=p.A2372S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.spliceDist_3=-97;refseq.start_1=49553929;refseq.start_2=49553929;refseq.start_3=49553929;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=FilteredInAll GT 1/0 chr15 49571112 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=436;Dels=0.00;HRun=2;HaplotypeScore=6.27;MQ=98.58;MQ0=0;OQ=9181.91;QD=21.06;RankSumP=0.491871;SB=-3914.29;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.4908A>G;refseq.codingCoordStr_2=c.3000A>G;refseq.codingCoordStr_3=c.4908A>G;refseq.codonCoord_1=1636;refseq.codonCoord_2=1000;refseq.codonCoord_3=1636;refseq.end_1=49571112;refseq.end_2=49571112;refseq.end_3=49571112;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5133;refseq.mrnaCoord_2=3225;refseq.mrnaCoord_3=5133;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1636G;refseq.proteinCoordStr_2=p.G1000G;refseq.proteinCoordStr_3=p.G1636G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.start_1=49571112;refseq.start_2=49571112;refseq.start_3=49571112;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/0 chr15 49578851 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=944;Dels=0.00;HRun=1;HaplotypeScore=24.75;MQ=98.76;MQ0=0;OQ=19844.79;QD=21.02;RankSumP=0.0948037;SB=-5816.21;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.3862T>C;refseq.codingCoordStr_3=c.3862T>C;refseq.codonCoord_2=1288;refseq.codonCoord_3=1288;refseq.end_1=49586612;refseq.end_2=49578851;refseq.end_3=49578851;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=4087;refseq.mrnaCoord_3=4087;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174117;refseq.name_2=NM_001174116;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S1288P;refseq.proteinCoordStr_3=p.S1288P;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_2=-811;refseq.spliceDist_3=-811;refseq.start_1=49574634;refseq.start_2=49578851;refseq.start_3=49578851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 0/1 chr15 49582464 . G A 143.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.62;MQ0=0;OQ=1926.59;QD=15.92;RankSumP=0.258820;SB=-490.47;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.2823C>T;refseq.codingCoordStr_3=c.2823C>T;refseq.codonCoord_2=941;refseq.codonCoord_3=941;refseq.end_1=49586612;refseq.end_2=49582464;refseq.end_3=49582464;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=3048;refseq.mrnaCoord_3=3048;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174117;refseq.name_2=NM_001174116;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N941N;refseq.proteinCoordStr_3=p.N941N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=49574634;refseq.start_2=49582464;refseq.start_3=49582464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr15 49617104 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=817;Dels=0.00;HRun=0;HaplotypeScore=25.37;MQ=98.85;MQ0=0;OQ=16809.17;QD=20.57;RankSumP=0.187501;SB=-6033.81;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1490C>T;refseq.codingCoordStr_2=c.1490C>T;refseq.codingCoordStr_3=c.1490C>T;refseq.codonCoord_1=497;refseq.codonCoord_2=497;refseq.codonCoord_3=497;refseq.end_1=49617104;refseq.end_2=49617104;refseq.end_3=49617104;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1715;refseq.mrnaCoord_3=1715;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T497M;refseq.proteinCoordStr_2=p.T497M;refseq.proteinCoordStr_3=p.T497M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.spliceDist_3=-128;refseq.start_1=49617104;refseq.start_2=49617104;refseq.start_3=49617104;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr15 49621833 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1094A>C;refseq.codingCoordStr_2=c.1094A>C;refseq.codingCoordStr_3=c.1094A>C;refseq.codonCoord_1=365;refseq.codonCoord_2=365;refseq.codonCoord_3=365;refseq.end_1=49621833;refseq.end_2=49621833;refseq.end_3=49621833;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1319;refseq.mrnaCoord_2=1319;refseq.mrnaCoord_3=1319;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N365T;refseq.proteinCoordStr_2=p.N365T;refseq.proteinCoordStr_3=p.N365T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.start_1=49621833;refseq.start_2=49621833;refseq.start_3=49621833;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr15 49655665 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=20.28;MQ=98.04;MQ0=0;OQ=2568.24;QD=12.91;RankSumP=0.0987003;SB=-119.70;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.93T>C;refseq.codingCoordStr_2=c.93T>C;refseq.codingCoordStr_3=c.93T>C;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.codonCoord_3=31;refseq.end_1=49655665;refseq.end_2=49655665;refseq.end_3=49655665;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=318;refseq.mrnaCoord_2=318;refseq.mrnaCoord_3=318;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y31Y;refseq.proteinCoordStr_2=p.Y31Y;refseq.proteinCoordStr_3=p.Y31Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=49655665;refseq.start_2=49655665;refseq.start_3=49655665;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chr15 49701954 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=289.72;QD=11.59;RankSumP=0.620823;SB=-73.04;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.81C>T;refseq.codingCoordStr_2=c.81C>T;refseq.codingCoordStr_3=c.81C>T;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.codonCoord_3=27;refseq.end_1=49701954;refseq.end_2=49701954;refseq.end_3=49701954;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=306;refseq.mrnaCoord_2=306;refseq.mrnaCoord_3=306;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P27P;refseq.proteinCoordStr_2=p.P27P;refseq.proteinCoordStr_3=p.P27P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=49701954;refseq.start_2=49701954;refseq.start_3=49701954;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr15 49702008 . T C 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=656.93;QD=22.65;RankSumP=0.00493328;SB=-304.39;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.27A>G;refseq.codingCoordStr_2=c.27A>G;refseq.codingCoordStr_3=c.27A>G;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.codonCoord_3=9;refseq.end_1=49702008;refseq.end_2=49702008;refseq.end_3=49702008;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=252;refseq.mrnaCoord_2=252;refseq.mrnaCoord_3=252;refseq.name2_1=DMXL2;refseq.name2_2=DMXL2;refseq.name2_3=DMXL2;refseq.name_1=NM_001174116;refseq.name_2=NM_001174117;refseq.name_3=NM_015263;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G9G;refseq.proteinCoordStr_2=p.G9G;refseq.proteinCoordStr_3=p.G9G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.start_1=49702008;refseq.start_2=49702008;refseq.start_3=49702008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=filterInsoap-gatk GT 1/0 chr15 50140790 . C G 141.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=407;Dels=0.00;HRun=0;HaplotypeScore=8.91;MQ=98.27;MQ0=0;OQ=9759.84;QD=23.98;RankSumP=0.344836;SB=-2070.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.868C>G;refseq.codonCoord=290;refseq.end=50140790;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L290V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=50140790;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr15 50143728 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.428571;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1405G>A;refseq.codonCoord=469;refseq.end=50143728;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2199;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E469K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=338;refseq.start=50143728;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr15 50143794 . G A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.550000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1471G>A;refseq.codonCoord=491;refseq.end=50143794;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2265;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G491S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=404;refseq.start=50143794;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr15 50143796 . C A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1473C>A;refseq.codonCoord=491;refseq.end=50143796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2267;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G491G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=406;refseq.start=50143796;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr15 50143858 . A G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.833333;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1535A>G;refseq.codonCoord=512;refseq.end=50143858;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2329;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q512R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=468;refseq.start=50143858;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr15 50144086 . T C 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.436249;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1763T>C;refseq.codonCoord=588;refseq.end=50144086;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2557;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L588S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=696;refseq.start=50144086;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT 1/0 chr15 50144093 . G A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.469733;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1770G>A;refseq.codonCoord=590;refseq.end=50144093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2564;refseq.name=NM_002748;refseq.name2=MAPK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q590Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=703;refseq.start=50144093;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr15 50319233 . A G 344.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.78;MQ0=0;OQ=11371.64;QD=42.43;RankSumP=1.00000;SB=-4229.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2692T>C;refseq.codonCoord=898;refseq.end=50319233;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2829;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L898L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-12;refseq.start=50319233;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 50321636 . G A 453.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.02;MQ0=0;OQ=5350.81;QD=37.95;RankSumP=1.00000;SB=-2482.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2457C>T;refseq.codonCoord=819;refseq.end=50321636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2594;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R819R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=67;refseq.start=50321636;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr15 50321665 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2428G>C;refseq.codonCoord=810;refseq.end=50321665;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2565;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A810P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=38;refseq.start=50321665;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr15 50326965 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=591;Dels=0.00;HRun=1;HaplotypeScore=5.53;MQ=98.79;MQ0=0;OQ=25208.35;QD=42.65;RankSumP=1.00000;SB=-12432.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1863G>A;refseq.codonCoord=621;refseq.end=50326965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2000;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R621R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-19;refseq.start=50326965;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr15 50343721 . A G 234.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.53;MQ0=0;OQ=9540.02;QD=37.71;RankSumP=1.00000;SB=-4715.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1005T>C;refseq.codonCoord=335;refseq.end=50343721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1142;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N335N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-43;refseq.start=50343721;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr15 50355143 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=603;Dels=0.00;HRun=1;HaplotypeScore=19.31;MQ=98.72;MQ0=0;OQ=11642.72;QD=19.31;RankSumP=0.136497;SB=-4391.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.514C>T;refseq.codonCoord=172;refseq.end=50355143;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_018728;refseq.name2=MYO5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R172C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=65;refseq.start=50355143;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr15 50400922 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.4802T>G;refseq.codingCoordStr_2=c.4721T>G;refseq.codonCoord_1=1601;refseq.codonCoord_2=1574;refseq.end_1=50400922;refseq.end_2=50400922;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5046;refseq.mrnaCoord_2=4965;refseq.name2_1=MYO5A;refseq.name2_2=MYO5A;refseq.name_1=NM_000259;refseq.name_2=NM_001142495;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1601G;refseq.proteinCoordStr_2=p.V1574G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=50400922;refseq.start_2=50400922;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 50422633 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.4013T>G;refseq.codonCoord_2=1338;refseq.end_1=50425839;refseq.end_2=50422633;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4257;refseq.name2_1=MYO5A;refseq.name2_2=MYO5A;refseq.name_1=NM_001142495;refseq.name_2=NM_000259;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V1338G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=-28;refseq.start_1=50419894;refseq.start_2=50422633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr15 50454844 . G A 172.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=12220.53;QD=42.29;RankSumP=1.00000;SB=-5774.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2526C>T;refseq.codingCoordStr_2=c.2526C>T;refseq.codonCoord_1=842;refseq.codonCoord_2=842;refseq.end_1=50454844;refseq.end_2=50454844;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2770;refseq.mrnaCoord_2=2770;refseq.name2_1=MYO5A;refseq.name2_2=MYO5A;refseq.name_1=NM_000259;refseq.name_2=NM_001142495;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I842I;refseq.proteinCoordStr_2=p.I842I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=50454844;refseq.start_2=50454844;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr15 50476818 . T C 265.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.91;MQ0=0;OQ=11370.01;QD=34.88;RankSumP=1.00000;SB=-4166.91;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1191A>G;refseq.codingCoordStr_2=c.1191A>G;refseq.codonCoord_1=397;refseq.codonCoord_2=397;refseq.end_1=50476818;refseq.end_2=50476818;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1435;refseq.mrnaCoord_2=1435;refseq.name2_1=MYO5A;refseq.name2_2=MYO5A;refseq.name_1=NM_000259;refseq.name_2=NM_001142495;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T397T;refseq.proteinCoordStr_2=p.T397T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-129;refseq.spliceDist_2=-129;refseq.start_1=50476818;refseq.start_2=50476818;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr15 50476923 . T G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=418;Dels=0.00;HRun=1;HaplotypeScore=13.29;MQ=98.72;MQ0=0;OQ=16907.06;QD=40.45;RankSumP=1.00000;SB=-7886.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1086A>C;refseq.codingCoordStr_2=c.1086A>C;refseq.codonCoord_1=362;refseq.codonCoord_2=362;refseq.end_1=50476923;refseq.end_2=50476923;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1330;refseq.mrnaCoord_2=1330;refseq.name2_1=MYO5A;refseq.name2_2=MYO5A;refseq.name_1=NM_000259;refseq.name_2=NM_001142495;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E362D;refseq.proteinCoordStr_2=p.E362D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=50476923;refseq.start_2=50476923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr15 50868769 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.605A>C;refseq.codonCoord=202;refseq.end=50868769;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_004498;refseq.name2=ONECUT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H202P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-501;refseq.start=50868769;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 51695072 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2623A>C;refseq.codonCoord=875;refseq.end=51695072;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2665;refseq.name=NM_182758;refseq.name2=WDR72;refseq.positionType=CDS;refseq.proteinCoordStr=p.T875P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-158;refseq.start=51695072;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr15 51781785 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=460;Dels=0.00;HRun=2;HaplotypeScore=7.82;MQ=98.83;MQ0=0;OQ=8491.96;QD=18.46;RankSumP=0.0661883;SB=-3256.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1407T>C;refseq.codonCoord=469;refseq.end=51781785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_182758;refseq.name2=WDR72;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y469Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=59;refseq.start=51781785;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr15 51790383 . G A 224.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=2.60;MQ=98.83;MQ0=0;OQ=5629.13;QD=19.89;RankSumP=0.488799;SB=-2246.43;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.917C>T;refseq.codonCoord=306;refseq.end=51790383;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_182758;refseq.name2=WDR72;refseq.positionType=CDS;refseq.proteinCoordStr=p.P306L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-38;refseq.start=51790383;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr15 51796137 . T C 180.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=472;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=95.69;MQ0=0;OQ=18069.06;QD=38.28;RankSumP=1.00000;SB=-8446.42;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.298A>G;refseq.codonCoord=100;refseq.end=51796137;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_182758;refseq.name2=WDR72;refseq.positionType=CDS;refseq.proteinCoordStr=p.M100V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=38;refseq.start=51796137;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr15 53456471 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.422G>C;refseq.codingCoordStr_2=c.422G>C;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.end_1=53456471;refseq.end_2=53456471;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=587;refseq.name2_1=CCPG1;refseq.name2_2=CCPG1;refseq.name_1=NM_004748;refseq.name_2=NM_020739;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S141T;refseq.proteinCoordStr_2=p.S141T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=53456471;refseq.start_2=53456471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr15 53519065 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=6.20842e-09;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.790C>A;refseq.codingCoordStr_2=c.790C>A;refseq.codingCoordStr_3=c.790C>A;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.codonCoord_3=264;refseq.end_1=53519065;refseq.end_2=53519065;refseq.end_3=53519065;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1158;refseq.mrnaCoord_2=1158;refseq.mrnaCoord_3=1158;refseq.name2_1=DYX1C1;refseq.name2_2=DYX1C1;refseq.name2_3=DYX1C1;refseq.name_1=NM_001033559;refseq.name_2=NM_001033560;refseq.name_3=NM_130810;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H264N;refseq.proteinCoordStr_2=p.H264N;refseq.proteinCoordStr_3=p.H264N;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=53519065;refseq.start_2=53519065;refseq.start_3=53519065;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=FilteredInAll GT 0/1 chr15 53546485 . T C 208.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.63;MQ0=0;OQ=957.71;QD=41.64;RankSumP=1.00000;SB=-90.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.572A>G;refseq.codingCoordStr_2=c.572A>G;refseq.codingCoordStr_3=c.572A>G;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.end_1=53546485;refseq.end_2=53546485;refseq.end_3=53546485;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=940;refseq.mrnaCoord_2=940;refseq.mrnaCoord_3=940;refseq.name2_1=DYX1C1;refseq.name2_2=DYX1C1;refseq.name2_3=DYX1C1;refseq.name_1=NM_001033559;refseq.name_2=NM_001033560;refseq.name_3=NM_130810;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E191G;refseq.proteinCoordStr_2=p.E191G;refseq.proteinCoordStr_3=p.E191G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.spliceDist_3=-66;refseq.start_1=53546485;refseq.start_2=53546485;refseq.start_3=53546485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/1 chr15 53626396 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.377A>C;refseq.codonCoord=126;refseq.end=53626396;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_015617;refseq.name2=PYGO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N126T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=242;refseq.start=53626396;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr15 53716674 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2609T>G;refseq.codonCoord=870;refseq.end=53716674;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2657;refseq.name=NM_173814;refseq.name2=PRTG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V870G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-15;refseq.start=53716674;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 53719190 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2266A>C;refseq.codonCoord=756;refseq.end=53719190;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2314;refseq.name=NM_173814;refseq.name2=PRTG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T756P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-59;refseq.start=53719190;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 53940021 . T C 268.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.68;MQ0=0;OQ=5911.49;QD=23.27;RankSumP=0.293409;SB=-2400.42;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.836A>G;refseq.codingCoordStr_2=c.1877A>G;refseq.codonCoord_1=279;refseq.codonCoord_2=626;refseq.end_1=53940021;refseq.end_2=53940021;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=918;refseq.mrnaCoord_2=2177;refseq.name2_1=NEDD4;refseq.name2_2=NEDD4;refseq.name_1=NM_006154;refseq.name_2=NM_198400;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N279S;refseq.proteinCoordStr_2=p.N626S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=53940021;refseq.start_2=53940021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr15 53940164 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=511;Dels=0.00;HRun=1;HaplotypeScore=12.83;MQ=98.76;MQ0=0;OQ=11059.72;QD=21.64;RankSumP=0.414596;SB=-4641.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.779G>A;refseq.codingCoordStr_2=c.1820G>A;refseq.codonCoord_1=260;refseq.codonCoord_2=607;refseq.end_1=53940164;refseq.end_2=53940164;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=861;refseq.mrnaCoord_2=2120;refseq.name2_1=NEDD4;refseq.name2_2=NEDD4;refseq.name_1=NM_006154;refseq.name_2=NM_198400;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R260Q;refseq.proteinCoordStr_2=p.R607Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=53940164;refseq.start_2=53940164;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr15 53995103 . T G 205.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=99.00;MQ0=0;OQ=3226.07;QD=18.02;RankSumP=0.269819;SB=-1121.53;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1219A>C;refseq.codonCoord_2=407;refseq.end_1=54004125;refseq.end_2=53995103;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1519;refseq.name2_1=NEDD4;refseq.name2_2=NEDD4;refseq.name_1=NM_006154;refseq.name_2=NM_198400;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N407H;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=-330;refseq.start_1=53953509;refseq.start_2=53995103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr15 53995827 . G A 262.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=9.23;MQ=98.90;MQ0=0;OQ=10978.86;QD=19.47;RankSumP=0.441240;SB=-2476.47;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.495C>T;refseq.codonCoord_2=165;refseq.end_1=54004125;refseq.end_2=53995827;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=795;refseq.name2_1=NEDD4;refseq.name2_2=NEDD4;refseq.name_1=NM_006154;refseq.name_2=NM_198400;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N165N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=795;refseq.start_1=53953509;refseq.start_2=53995827;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr15 54711006 . G A 203.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.98;MQ0=0;OQ=19520.76;QD=42.53;RankSumP=1.00000;SB=-8183.60;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2883C>T;refseq.codingCoordStr_2=c.2922C>T;refseq.codonCoord_1=961;refseq.codonCoord_2=974;refseq.end_1=54711006;refseq.end_2=54711006;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3070;refseq.mrnaCoord_2=3139;refseq.name2_1=ZNF280D;refseq.name2_2=ZNF280D;refseq.name_1=NM_001002843;refseq.name_2=NM_017661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D961D;refseq.proteinCoordStr_2=p.D974D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=607;refseq.spliceDist_2=607;refseq.start_1=54711006;refseq.start_2=54711006;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr15 54733925 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2087C>A;refseq.codingCoordStr_2=c.2126C>A;refseq.codonCoord_1=696;refseq.codonCoord_2=709;refseq.end_1=54733925;refseq.end_2=54733925;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2274;refseq.mrnaCoord_2=2343;refseq.name2_1=ZNF280D;refseq.name2_2=ZNF280D;refseq.name_1=NM_001002843;refseq.name_2=NM_017661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T696K;refseq.proteinCoordStr_2=p.T709K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=54733925;refseq.start_2=54733925;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr15 54746320 . C T 202.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=98.92;MQ0=0;OQ=3220.76;QD=14.64;RankSumP=0.268305;SB=-1448.71;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1663G>A;refseq.codingCoordStr_2=c.1702G>A;refseq.codonCoord_1=555;refseq.codonCoord_2=568;refseq.end_1=54746320;refseq.end_2=54746320;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1850;refseq.mrnaCoord_2=1919;refseq.name2_1=ZNF280D;refseq.name2_2=ZNF280D;refseq.name_1=NM_001002843;refseq.name_2=NM_017661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V555I;refseq.proteinCoordStr_2=p.V568I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-152;refseq.spliceDist_2=-152;refseq.start_1=54746320;refseq.start_2=54746320;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr15 54772586 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.460+2;refseq.codingCoordStr_2=c.499+2;refseq.end_1=54772586;refseq.end_2=54772586;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ZNF280D;refseq.name2_2=ZNF280D;refseq.name_1=NM_001002843;refseq.name_2=NM_017661;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=54772586;refseq.start_2=54772586;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr15 55518627 . A C 347.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=99.00;MQ0=0;OQ=5948.59;QD=41.60;RankSumP=1.00000;SB=-2565.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1138A>C;refseq.codonCoord=380;refseq.end=55518627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1214;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T380P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-465;refseq.start=55518627;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr15 55518865 . C T 163.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=2.21;MQ=99.00;MQ0=0;OQ=2097.92;QD=18.24;RankSumP=0.0874312;SB=-675.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1376C>T;refseq.codonCoord=459;refseq.end=55518865;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1452;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S459F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-227;refseq.start=55518865;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr15 55519020 . A G 382.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.52;MQ=98.74;MQ0=0;OQ=2962.26;QD=37.03;RankSumP=1.00000;SB=-844.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1531A>G;refseq.codonCoord=511;refseq.end=55519020;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1607;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T511A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-72;refseq.start=55519020;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr15 55623195 . T G 128.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=5.81;MQ=98.53;MQ0=0;OQ=2817.04;QD=12.92;RankSumP=0.0631063;SB=-772.92;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3301T>G;refseq.codonCoord=1101;refseq.end=55623195;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3377;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1101V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=55623195;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr15 55623271 . T G 36 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.000132359;SecondBestBaseQ=11;refseq.chr=chr15;refseq.codingCoordStr=c.3375+2;refseq.end=55623271;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=55623271;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr15 55625600 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3644T>G;refseq.codonCoord=1215;refseq.end=55625600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3720;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1215G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=55625600;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 55625726 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.677778;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3770T>A;refseq.codonCoord=1257;refseq.end=55625726;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3846;refseq.name=NM_032866;refseq.name2=CGNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1257*;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=55625726;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr15 55705361 . A G 280.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=5015.39;QD=18.24;RankSumP=0.168065;SB=-1182.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.504A>G;refseq.codingCoordStr_2=c.504A>G;refseq.codingCoordStr_3=c.504A>G;refseq.codingCoordStr_4=c.504A>G;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.codonCoord_3=168;refseq.codonCoord_4=168;refseq.end_1=55705361;refseq.end_2=55705361;refseq.end_3=55705361;refseq.end_4=55705361;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=623;refseq.mrnaCoord_2=623;refseq.mrnaCoord_3=623;refseq.mrnaCoord_4=623;refseq.name2_1=GCOM1;refseq.name2_2=GCOM1;refseq.name2_3=GCOM1;refseq.name2_4=GCOM1;refseq.name_1=NM_001018090;refseq.name_2=NM_001018091;refseq.name_3=NM_001018100;refseq.name_4=NM_152451;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A168A;refseq.proteinCoordStr_2=p.A168A;refseq.proteinCoordStr_3=p.A168A;refseq.proteinCoordStr_4=p.A168A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.start_1=55705361;refseq.start_2=55705361;refseq.start_3=55705361;refseq.start_4=55705361;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 0/1 chr15 55705382 . A G 332.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.98;MQ0=0;OQ=7548.44;QD=39.52;RankSumP=1.00000;SB=-1652.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.525A>G;refseq.codingCoordStr_2=c.525A>G;refseq.codingCoordStr_3=c.525A>G;refseq.codingCoordStr_4=c.525A>G;refseq.codonCoord_1=175;refseq.codonCoord_2=175;refseq.codonCoord_3=175;refseq.codonCoord_4=175;refseq.end_1=55705382;refseq.end_2=55705382;refseq.end_3=55705382;refseq.end_4=55705382;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=644;refseq.mrnaCoord_2=644;refseq.mrnaCoord_3=644;refseq.mrnaCoord_4=644;refseq.name2_1=GCOM1;refseq.name2_2=GCOM1;refseq.name2_3=GCOM1;refseq.name2_4=GCOM1;refseq.name_1=NM_001018090;refseq.name_2=NM_001018091;refseq.name_3=NM_001018100;refseq.name_4=NM_152451;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q175Q;refseq.proteinCoordStr_2=p.Q175Q;refseq.proteinCoordStr_3=p.Q175Q;refseq.proteinCoordStr_4=p.Q175Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.start_1=55705382;refseq.start_2=55705382;refseq.start_3=55705382;refseq.start_4=55705382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/1 chr15 55713136 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=3.44635e-07;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.838G>A;refseq.codingCoordStr_2=c.838G>A;refseq.codingCoordStr_3=c.838G>A;refseq.codingCoordStr_4=c.838G>A;refseq.codonCoord_1=280;refseq.codonCoord_2=280;refseq.codonCoord_3=280;refseq.codonCoord_4=280;refseq.end_1=55713136;refseq.end_2=55713136;refseq.end_3=55713136;refseq.end_4=55713136;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=957;refseq.mrnaCoord_2=957;refseq.mrnaCoord_3=957;refseq.mrnaCoord_4=957;refseq.name2_1=GCOM1;refseq.name2_2=GCOM1;refseq.name2_3=GCOM1;refseq.name2_4=GCOM1;refseq.name_1=NM_001018090;refseq.name_2=NM_001018091;refseq.name_3=NM_001018100;refseq.name_4=NM_152451;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E280K;refseq.proteinCoordStr_2=p.E280K;refseq.proteinCoordStr_3=p.E280K;refseq.proteinCoordStr_4=p.E280K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.start_1=55713136;refseq.start_2=55713136;refseq.start_3=55713136;refseq.start_4=55713136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 1/0 chr15 55754511 . T C 309.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=1;HaplotypeScore=4.14;MQ=98.07;MQ0=0;OQ=9434.96;QD=38.20;RankSumP=1.00000;SB=-4252.50;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.1257T>C;refseq.codingCoordStr_2=c.1257T>C;refseq.codingCoordStr_3=c.1257T>C;refseq.codingCoordStr_4=c.1173T>C;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.codonCoord_3=419;refseq.codonCoord_4=391;refseq.end_1=55754511;refseq.end_2=55754511;refseq.end_3=55754511;refseq.end_4=55754511;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=1376;refseq.mrnaCoord_3=1376;refseq.mrnaCoord_4=1292;refseq.name2_1=GCOM1;refseq.name2_2=GCOM1;refseq.name2_3=GCOM1;refseq.name2_4=GCOM1;refseq.name_1=NM_001018090;refseq.name_2=NM_001018091;refseq.name_3=NM_001018100;refseq.name_4=NM_152451;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T419T;refseq.proteinCoordStr_2=p.T419T;refseq.proteinCoordStr_3=p.T419T;refseq.proteinCoordStr_4=p.T391T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.spliceDist_4=-48;refseq.start_1=55754511;refseq.start_2=55754511;refseq.start_3=55754511;refseq.start_4=55754511;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr15 55788273 . C T 425.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=83.93;MQ0=0;OQ=8225.36;QD=42.40;RankSumP=1.00000;SB=-2284.08;SecondBestBaseQ=0;refseq.changesAA_5=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_5=c.183C>T;refseq.codonCoord_5=61;refseq.end_1=55791463;refseq.end_2=55794015;refseq.end_3=55788664;refseq.end_4=55788273;refseq.end_5=55788273;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_4=513;refseq.mrnaCoord_5=323;refseq.name2_1=GCOM1;refseq.name2_2=GCOM1;refseq.name2_3=GRINL1A;refseq.name2_4=GRINL1A;refseq.name2_5=GRINL1A;refseq.name_1=NM_001018090;refseq.name_2=NM_001018091;refseq.name_3=NM_001018102;refseq.name_4=NR_027390;refseq.name_5=NM_015532;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.A61A;refseq.referenceAA_5=Ala;refseq.referenceCodon_5=GCC;refseq.spliceDist_4=70;refseq.spliceDist_5=70;refseq.start_1=55754569;refseq.start_2=55754569;refseq.start_3=55786456;refseq.start_4=55788273;refseq.start_5=55788273;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Ala;refseq.variantCodon_5=GCT;set=Intersection GT 1/1 chr15 56043419 . C T 256.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=8.43;MQ=98.69;MQ0=0;OQ=16482.25;QD=42.15;RankSumP=1.00000;SB=-7344.56;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1042G>A;refseq.codingCoordStr_2=c.928G>A;refseq.codingCoordStr_3=c.754G>A;refseq.codonCoord_1=348;refseq.codonCoord_2=310;refseq.codonCoord_3=252;refseq.end_1=56043419;refseq.end_2=56043419;refseq.end_3=56043419;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1100;refseq.mrnaCoord_2=986;refseq.mrnaCoord_3=859;refseq.name2_1=ALDH1A2;refseq.name2_2=ALDH1A2;refseq.name2_3=ALDH1A2;refseq.name_1=NM_003888;refseq.name_2=NM_170696;refseq.name_3=NM_170697;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V348I;refseq.proteinCoordStr_2=p.V310I;refseq.proteinCoordStr_3=p.V252I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=56043419;refseq.start_2=56043419;refseq.start_3=56043419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/1 chr15 56246181 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.129T>G;refseq.codonCoord=43;refseq.end=56246181;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_020980;refseq.name2=AQP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.C43W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=18;refseq.start=56246181;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr15 56258660 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=3;HaplotypeScore=8.68;MQ=98.74;MQ0=0;OQ=7221.70;QD=18.71;RankSumP=0.260022;SB=-2666.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.537C>T;refseq.codonCoord=179;refseq.end=56258660;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_020980;refseq.name2=AQP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I179I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=42;refseq.start=56258660;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr15 56263573 . A G 212.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=343;Dels=0.00;HRun=1;HaplotypeScore=2.45;MQ=98.87;MQ0=0;OQ=7485.51;QD=21.82;RankSumP=0.451147;SB=-2179.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.835A>G;refseq.codonCoord=279;refseq.end=56263573;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_020980;refseq.name2=AQP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T279A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=122;refseq.start=56263573;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr15 56622033 . G T 276.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=5.61;MQ=99.00;MQ0=0;OQ=5522.94;QD=19.18;RankSumP=0.0296648;SB=-1952.47;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.465G>T;refseq.codonCoord=155;refseq.end=56622033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_000236;refseq.name2=LIPC;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=56622033;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr15 56625330 . C G 290.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.62;MQ0=0;OQ=10775.73;QD=43.98;RankSumP=1.00000;SB=-4726.87;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.672C>G;refseq.codonCoord=224;refseq.end=56625330;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_000236;refseq.name2=LIPC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T224T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=98;refseq.start=56625330;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr15 56640371 . C A 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=89.70;MQ0=0;OQ=1027.47;QD=35.43;RankSumP=1.00000;SB=-94.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1068C>A;refseq.codonCoord=356;refseq.end=56640371;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_000236;refseq.name2=LIPC;refseq.positionType=CDS;refseq.proteinCoordStr=p.F356L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=17;refseq.start=56640371;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr15 56640401 . A G 329.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.35;MQ0=0;OQ=2205.71;QD=36.76;RankSumP=1.00000;SB=-463.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1098A>G;refseq.codonCoord=366;refseq.end=56640401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_000236;refseq.name2=LIPC;refseq.positionType=CDS;refseq.proteinCoordStr=p.T366T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=47;refseq.start=56640401;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr15 56911294 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1255A>C;refseq.codingCoordStr_2=c.1255A>C;refseq.codonCoord_1=419;refseq.codonCoord_2=419;refseq.end_1=56911294;refseq.end_2=56911294;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1457;refseq.mrnaCoord_2=1457;refseq.name2_1=FAM63B;refseq.name2_2=FAM63B;refseq.name_1=NM_001040450;refseq.name_2=NM_001040453;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T419P;refseq.proteinCoordStr_2=p.T419P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=56911294;refseq.start_2=56911294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr15 57110340 . C G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=1;HaplotypeScore=5.73;MQ=98.69;MQ0=0;OQ=17518.06;QD=49.35;RankSumP=1.00000;SB=-6156.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.27C>G;refseq.codonCoord=9;refseq.end=57110340;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_017610;refseq.name2=RNF111;refseq.positionType=CDS;refseq.proteinCoordStr=p.N9K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=46;refseq.start=57110340;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr15 57194291 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.521T>G;refseq.codonCoord=174;refseq.end=57194291;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_004701;refseq.name2=CCNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V174G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-77;refseq.start=57194291;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr15 57297481 . G A 341.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=99.00;MQ0=0;OQ=2692.57;QD=18.32;RankSumP=0.368211;SB=-1170.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1008C>T;refseq.codonCoord=336;refseq.end=57297481;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_004998;refseq.name2=MYO1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S336S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=98;refseq.start=57297481;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr15 58440497 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=85.49;MQ0=45;OQ=2496.27;QD=9.25;RankSumP=0.285008;SB=-1040.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.292G>T;refseq.codingCoordStr_2=c.346G>T;refseq.codingCoordStr_3=c.292G>T;refseq.codingCoordStr_4=c.292G>T;refseq.codonCoord_1=98;refseq.codonCoord_2=116;refseq.codonCoord_3=98;refseq.codonCoord_4=98;refseq.end_1=58440497;refseq.end_2=58440497;refseq.end_3=58440497;refseq.end_4=58440497;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=428;refseq.mrnaCoord_2=419;refseq.mrnaCoord_3=452;refseq.mrnaCoord_4=347;refseq.name2_1=ANXA2;refseq.name2_2=ANXA2;refseq.name2_3=ANXA2;refseq.name2_4=ANXA2;refseq.name_1=NM_001002857;refseq.name_2=NM_001002858;refseq.name_3=NM_001136015;refseq.name_4=NM_004039;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V98L;refseq.proteinCoordStr_2=p.V116L;refseq.proteinCoordStr_3=p.V98L;refseq.proteinCoordStr_4=p.V98L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.spliceDist_4=49;refseq.start_1=58440497;refseq.start_2=58440497;refseq.start_3=58440497;refseq.start_4=58440497;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;set=Intersection GT 1/0 chr15 58477381 . A G 91.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.43;MQ0=0;OQ=251.27;QD=16.75;RankSumP=0.710317;SB=-122.77;SecondBestBaseQ=27;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_4=c.24T>C;refseq.codonCoord_4=8;refseq.end_1=58477423;refseq.end_2=58477423;refseq.end_3=58477423;refseq.end_4=58477381;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=97;refseq.name2_1=ANXA2;refseq.name2_2=ANXA2;refseq.name2_3=ANXA2;refseq.name2_4=ANXA2;refseq.name_1=NM_004039;refseq.name_2=NM_001136015;refseq.name_3=NM_001002857;refseq.name_4=NM_001002858;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.C8C;refseq.referenceAA_4=Cys;refseq.referenceCodon_4=TGT;refseq.spliceDist_4=-20;refseq.start_1=58465588;refseq.start_2=58469819;refseq.start_3=58476840;refseq.start_4=58477381;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Cys;refseq.variantCodon_4=TGC;set=Intersection GT 0/1 chr15 58577090 . G T 182.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=14.14;MQ=98.71;MQ0=0;OQ=16719.65;QD=39.43;RankSumP=1.00000;SB=-7168.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.1503C>A;refseq.codingCoordStr_2=c.1527C>A;refseq.codingCoordStr_3=c.1428C>A;refseq.codingCoordStr_4=c.1263C>A;refseq.codonCoord_1=501;refseq.codonCoord_2=509;refseq.codonCoord_3=476;refseq.codonCoord_4=421;refseq.end_1=58577090;refseq.end_2=58577090;refseq.end_3=58577090;refseq.end_4=58577090;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1659;refseq.mrnaCoord_2=1683;refseq.mrnaCoord_3=1513;refseq.mrnaCoord_4=1354;refseq.name2_1=RORA;refseq.name2_2=RORA;refseq.name2_3=RORA;refseq.name2_4=RORA;refseq.name_1=NM_002943;refseq.name_2=NM_134260;refseq.name_3=NM_134261;refseq.name_4=NM_134262;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T501T;refseq.proteinCoordStr_2=p.T509T;refseq.proteinCoordStr_3=p.T476T;refseq.proteinCoordStr_4=p.T421T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=58577090;refseq.start_2=58577090;refseq.start_3=58577090;refseq.start_4=58577090;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/1 chr15 58585082 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.934A>C;refseq.codingCoordStr_2=c.958A>C;refseq.codingCoordStr_3=c.859A>C;refseq.codingCoordStr_4=c.694A>C;refseq.codonCoord_1=312;refseq.codonCoord_2=320;refseq.codonCoord_3=287;refseq.codonCoord_4=232;refseq.end_1=58585082;refseq.end_2=58585082;refseq.end_3=58585082;refseq.end_4=58585082;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1090;refseq.mrnaCoord_2=1114;refseq.mrnaCoord_3=944;refseq.mrnaCoord_4=785;refseq.name2_1=RORA;refseq.name2_2=RORA;refseq.name2_3=RORA;refseq.name2_4=RORA;refseq.name_1=NM_002943;refseq.name_2=NM_134260;refseq.name_3=NM_134261;refseq.name_4=NM_134262;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T312P;refseq.proteinCoordStr_2=p.T320P;refseq.proteinCoordStr_3=p.T287P;refseq.proteinCoordStr_4=p.T232P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.spliceDist_4=39;refseq.start_1=58585082;refseq.start_2=58585082;refseq.start_3=58585082;refseq.start_4=58585082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr15 59998858 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=194;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.96;MQ0=0;OQ=4474.40;QD=23.06;RankSumP=0.268535;SB=-1545.18;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.7560C>G;refseq.codingCoordStr_2=c.7431C>G;refseq.codingCoordStr_3=c.7431C>G;refseq.codingCoordStr_4=c.7560C>G;refseq.codonCoord_1=2520;refseq.codonCoord_2=2477;refseq.codonCoord_3=2477;refseq.codonCoord_4=2520;refseq.end_1=59998858;refseq.end_2=59998858;refseq.end_3=59998858;refseq.end_4=59998858;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=7634;refseq.mrnaCoord_2=7505;refseq.mrnaCoord_3=7505;refseq.mrnaCoord_4=7634;refseq.name2_1=VPS13C;refseq.name2_2=VPS13C;refseq.name2_3=VPS13C;refseq.name2_4=VPS13C;refseq.name_1=NM_001018088;refseq.name_2=NM_017684;refseq.name_3=NM_018080;refseq.name_4=NM_020821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A2520A;refseq.proteinCoordStr_2=p.A2477A;refseq.proteinCoordStr_3=p.A2477A;refseq.proteinCoordStr_4=p.A2520A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.spliceDist_3=-79;refseq.spliceDist_4=-79;refseq.start_1=59998858;refseq.start_2=59998858;refseq.start_3=59998858;refseq.start_4=59998858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 0/1 chr15 60041928 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.3537T>G;refseq.codingCoordStr_2=c.3408T>G;refseq.codingCoordStr_3=c.3408T>G;refseq.codingCoordStr_4=c.3537T>G;refseq.codonCoord_1=1179;refseq.codonCoord_2=1136;refseq.codonCoord_3=1136;refseq.codonCoord_4=1179;refseq.end_1=60041928;refseq.end_2=60041928;refseq.end_3=60041928;refseq.end_4=60041928;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3611;refseq.mrnaCoord_2=3482;refseq.mrnaCoord_3=3482;refseq.mrnaCoord_4=3611;refseq.name2_1=VPS13C;refseq.name2_2=VPS13C;refseq.name2_3=VPS13C;refseq.name2_4=VPS13C;refseq.name_1=NM_001018088;refseq.name_2=NM_017684;refseq.name_3=NM_018080;refseq.name_4=NM_020821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G1179G;refseq.proteinCoordStr_2=p.G1136G;refseq.proteinCoordStr_3=p.G1136G;refseq.proteinCoordStr_4=p.G1179G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.spliceDist_4=-67;refseq.start_1=60041928;refseq.start_2=60041928;refseq.start_3=60041928;refseq.start_4=60041928;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr15 60046929 . C T 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=4803.05;QD=44.47;RankSumP=1.00000;SB=-1442.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.2921G>A;refseq.codingCoordStr_2=c.2792G>A;refseq.codingCoordStr_3=c.2792G>A;refseq.codingCoordStr_4=c.2921G>A;refseq.codonCoord_1=974;refseq.codonCoord_2=931;refseq.codonCoord_3=931;refseq.codonCoord_4=974;refseq.end_1=60046929;refseq.end_2=60046929;refseq.end_3=60046929;refseq.end_4=60046929;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2995;refseq.mrnaCoord_2=2866;refseq.mrnaCoord_3=2866;refseq.mrnaCoord_4=2995;refseq.name2_1=VPS13C;refseq.name2_2=VPS13C;refseq.name2_3=VPS13C;refseq.name2_4=VPS13C;refseq.name_1=NM_001018088;refseq.name_2=NM_017684;refseq.name_3=NM_018080;refseq.name_4=NM_020821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R974K;refseq.proteinCoordStr_2=p.R931K;refseq.proteinCoordStr_3=p.R931K;refseq.proteinCoordStr_4=p.R974K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=60046929;refseq.start_2=60046929;refseq.start_3=60046929;refseq.start_4=60046929;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr15 60090087 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.887T>C;refseq.codingCoordStr_2=c.758T>C;refseq.codingCoordStr_3=c.758T>C;refseq.codingCoordStr_4=c.887T>C;refseq.codonCoord_1=296;refseq.codonCoord_2=253;refseq.codonCoord_3=253;refseq.codonCoord_4=296;refseq.end_1=60090087;refseq.end_2=60090087;refseq.end_3=60090087;refseq.end_4=60090087;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=832;refseq.mrnaCoord_3=832;refseq.mrnaCoord_4=961;refseq.name2_1=VPS13C;refseq.name2_2=VPS13C;refseq.name2_3=VPS13C;refseq.name2_4=VPS13C;refseq.name_1=NM_001018088;refseq.name_2=NM_017684;refseq.name_3=NM_018080;refseq.name_4=NM_020821;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.F296S;refseq.proteinCoordStr_2=p.F253S;refseq.proteinCoordStr_3=p.F253S;refseq.proteinCoordStr_4=p.F296S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.start_1=60090087;refseq.start_2=60090087;refseq.start_3=60090087;refseq.start_4=60090087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;set=FilteredInAll GT 0/1 chr15 60243650 . A C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.826T>G;refseq.codonCoord=276;refseq.end=60243650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_001007595;refseq.name2=C2CD4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F276V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-622;refseq.start=60243650;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/1 chr15 60797096 . C T 210.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.11;MQ0=0;OQ=1918.83;QD=23.12;RankSumP=1.00000;SB=-686.39;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2793C>T;refseq.codonCoord=931;refseq.end=60797096;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2793;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A931A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=30;refseq.start=60797096;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr15 60835070 . C T 166.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=98.59;MQ0=0;OQ=5889.21;QD=32.36;RankSumP=1.00000;SB=-1859.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4524C>T;refseq.codonCoord=1508;refseq.end=60835070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4524;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1508C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=48;refseq.start=60835070;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 60850454 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=8.81423e-08;SecondBestBaseQ=11;refseq.chr=chr15;refseq.codingCoordStr=c.5197-1;refseq.end=60850454;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=60850454;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr15 60898792 . T C 175.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=8.60;MQ=98.62;MQ0=0;OQ=2569.07;QD=13.45;RankSumP=0.418117;SB=-856.52;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.6796T>C;refseq.codonCoord=2266;refseq.end=60898792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6796;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F2266L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=25;refseq.start=60898792;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr15 60915036 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=708;Dels=0.00;HRun=1;HaplotypeScore=41.22;MQ=98.64;MQ0=0;OQ=13764.10;QD=19.44;RankSumP=0.284803;SB=-3714.06;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.7176G>A;refseq.codonCoord=2392;refseq.end=60915036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7176;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2392Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-16;refseq.start=60915036;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr15 60918170 . T A 229.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.50;MQ0=0;OQ=8834.19;QD=19.63;RankSumP=0.109732;SB=-3623.17;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.7437T>A;refseq.codonCoord=2479;refseq.end=60918170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7437;refseq.name=NM_015059;refseq.name2=TLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2479A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=63;refseq.start=60918170;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr15 61138893 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=150;Dels=0.00;HRun=2;HaplotypeScore=4.16;MQ=98.69;MQ0=0;OQ=2106.49;QD=14.04;RankSumP=0.328999;SB=-928.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.chr_6=chr15;refseq.chr_7=chr15;refseq.codingCoordStr_1=c.453C>A;refseq.codingCoordStr_2=c.453C>A;refseq.codingCoordStr_3=c.453C>A;refseq.codingCoordStr_4=c.453C>A;refseq.codingCoordStr_5=c.453C>A;refseq.codingCoordStr_6=c.345C>A;refseq.codingCoordStr_7=c.453C>A;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.codonCoord_4=151;refseq.codonCoord_5=151;refseq.codonCoord_6=115;refseq.codonCoord_7=151;refseq.end_1=61138893;refseq.end_2=61138893;refseq.end_3=61138893;refseq.end_4=61138893;refseq.end_5=61138893;refseq.end_6=61138893;refseq.end_7=61138893;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=644;refseq.mrnaCoord_2=644;refseq.mrnaCoord_3=644;refseq.mrnaCoord_4=644;refseq.mrnaCoord_5=644;refseq.mrnaCoord_6=484;refseq.mrnaCoord_7=644;refseq.name2_1=TPM1;refseq.name2_2=TPM1;refseq.name2_3=TPM1;refseq.name2_4=TPM1;refseq.name2_5=TPM1;refseq.name2_6=TPM1;refseq.name2_7=TPM1;refseq.name_1=NM_000366;refseq.name_2=NM_001018004;refseq.name_3=NM_001018005;refseq.name_4=NM_001018006;refseq.name_5=NM_001018007;refseq.name_6=NM_001018008;refseq.name_7=NM_001018020;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A151A;refseq.proteinCoordStr_2=p.A151A;refseq.proteinCoordStr_3=p.A151A;refseq.proteinCoordStr_4=p.A151A;refseq.proteinCoordStr_5=p.A151A;refseq.proteinCoordStr_6=p.A115A;refseq.proteinCoordStr_7=p.A151A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.spliceDist_5=-40;refseq.spliceDist_6=-40;refseq.spliceDist_7=-40;refseq.start_1=61138893;refseq.start_2=61138893;refseq.start_3=61138893;refseq.start_4=61138893;refseq.start_5=61138893;refseq.start_6=61138893;refseq.start_7=61138893;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;set=Intersection GT 1/0 chr15 61201136 . A C 29.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=15;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.37;MQ0=0;OQ=163.14;QD=18.13;RankSumP=1.00000;SB=-90.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.13A>C;refseq.codingCoordStr_2=c.13A>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=61201136;refseq.end_2=61201136;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=52;refseq.mrnaCoord_2=52;refseq.name2_1=LACTB;refseq.name2_2=LACTB;refseq.name_1=NM_032857;refseq.name_2=NM_171846;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M5L;refseq.proteinCoordStr_2=p.M5L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=61201136;refseq.start_2=61201136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=filterInsoap-gatk GT 1/1 chr15 61220819 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=3;HaplotypeScore=0.41;MQ=98.94;MQ0=0;OQ=5394.15;QD=19.83;RankSumP=0.113348;SB=-2175.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1406G>A;refseq.codonCoord=469;refseq.end=61220819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1445;refseq.name=NM_032857;refseq.name2=LACTB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R469K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=288;refseq.start=61220819;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr15 61335840 . G A 253.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=4851.19;QD=20.82;RankSumP=0.338544;SB=-1091.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.408G>A;refseq.codonCoord=136;refseq.end=61335840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_016530;refseq.name2=RAB8B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G136G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=61335840;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr15 61356954 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=4.77910e-09;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.79A>C;refseq.codingCoordStr_2=c.79A>C;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=61356954;refseq.end_2=61356954;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=153;refseq.mrnaCoord_2=153;refseq.name2_1=APH1B;refseq.name2_2=APH1B;refseq.name_1=NM_001145646;refseq.name_2=NM_031301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T27P;refseq.proteinCoordStr_2=p.T27P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=61356954;refseq.start_2=61356954;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr15 61418091 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.854T>G;refseq.codingCoordStr_2=c.854T>G;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=61418091;refseq.end_2=61418091;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1010;refseq.mrnaCoord_2=1010;refseq.name2_1=CA12;refseq.name2_2=CA12;refseq.name_1=NM_001218;refseq.name_2=NM_206925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V285G;refseq.proteinCoordStr_2=p.V285G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=61418091;refseq.start_2=61418091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chr15 61418174 . C A 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.155471;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.771G>T;refseq.codingCoordStr_2=c.771G>T;refseq.codonCoord_1=257;refseq.codonCoord_2=257;refseq.end_1=61418174;refseq.end_2=61418174;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=927;refseq.name2_1=CA12;refseq.name2_2=CA12;refseq.name_1=NM_001218;refseq.name_2=NM_206925;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L257L;refseq.proteinCoordStr_2=p.L257L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=61418174;refseq.start_2=61418174;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=soap GT 1/0 chr15 62062857 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.242T>G;refseq.codonCoord=81;refseq.end=62062857;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_014326;refseq.name2=DAPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V81G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-73;refseq.start=62062857;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 62172904 . T C 272.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=3129.47;QD=37.26;RankSumP=1.00000;SB=-1479.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.117A>G;refseq.codingCoordStr_2=c.117A>G;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=62172904;refseq.end_2=62172904;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=357;refseq.mrnaCoord_2=357;refseq.name2_1=FAM96A;refseq.name2_2=FAM96A;refseq.name_1=NM_001014812;refseq.name_2=NM_032231;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E39E;refseq.proteinCoordStr_2=p.E39E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=62172904;refseq.start_2=62172904;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr15 62205450 . G A 429.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.76;MQ0=0;OQ=7077.19;QD=38.05;RankSumP=1.00000;SB=-2995.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.630G>A;refseq.codingCoordStr_2=c.435G>A;refseq.codingCoordStr_3=c.630G>A;refseq.codonCoord_1=210;refseq.codonCoord_2=145;refseq.codonCoord_3=210;refseq.end_1=62205450;refseq.end_2=62205450;refseq.end_3=62205450;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=666;refseq.mrnaCoord_2=471;refseq.mrnaCoord_3=666;refseq.name2_1=SNX1;refseq.name2_2=SNX1;refseq.name2_3=SNX1;refseq.name_1=NM_003099;refseq.name_2=NM_148955;refseq.name_3=NM_152826;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P210P;refseq.proteinCoordStr_2=p.P145P;refseq.proteinCoordStr_3=p.P210P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.start_1=62205450;refseq.start_2=62205450;refseq.start_3=62205450;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/1 chr15 62206427 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=1330.11;QD=13.86;RankSumP=0.367048;SB=-446.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.654G>T;refseq.codingCoordStr_2=c.459G>T;refseq.codingCoordStr_3=c.654G>T;refseq.codonCoord_1=218;refseq.codonCoord_2=153;refseq.codonCoord_3=218;refseq.end_1=62206427;refseq.end_2=62206427;refseq.end_3=62206427;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=495;refseq.mrnaCoord_3=690;refseq.name2_1=SNX1;refseq.name2_2=SNX1;refseq.name2_3=SNX1;refseq.name_1=NM_003099;refseq.name_2=NM_148955;refseq.name_3=NM_152826;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G218G;refseq.proteinCoordStr_2=p.G153G;refseq.proteinCoordStr_3=p.G218G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=62206427;refseq.start_2=62206427;refseq.start_3=62206427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr15 62295816 . G A 187.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=237;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=4895.16;QD=20.65;RankSumP=0.124703;SB=-1556.48;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.442C>T;refseq.codonCoord=148;refseq.end=62295816;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_022048;refseq.name2=CSNK1G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=62295816;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr15 62493385 . A G 244.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=10.05;MQ=98.19;MQ0=1;OQ=5737.13;QD=17.44;RankSumP=0.0523645;SB=-1844.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1092A>G;refseq.codonCoord=364;refseq.end=62493385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1135;refseq.name=NM_016213;refseq.name2=TRIP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P364P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=49;refseq.start=62493385;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr15 62524278 . G A 194.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.93;MQ0=0;OQ=5744.77;QD=42.87;RankSumP=1.00000;SB=-1609.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1596G>A;refseq.codonCoord=532;refseq.end=62524278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1639;refseq.name=NM_016213;refseq.name2=TRIP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E532E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=21;refseq.start=62524278;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr15 62702159 . C T 293.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.49;MQ0=0;OQ=6248.28;QD=42.22;RankSumP=1.00000;SB=-1458.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.828C>T;refseq.codonCoord=276;refseq.end=62702159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=828;refseq.name=NM_015042;refseq.name2=ZNF609;refseq.positionType=CDS;refseq.proteinCoordStr=p.P276P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=81;refseq.start=62702159;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr15 62749683 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=376;Dels=0.00;HRun=5;HaplotypeScore=3.98;MQ=98.85;MQ0=0;OQ=7464.27;QD=19.85;RankSumP=0.432910;SB=-1376.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1059A>C;refseq.codonCoord=353;refseq.end=62749683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_015042;refseq.name2=ZNF609;refseq.positionType=CDS;refseq.proteinCoordStr=p.P353P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=62749683;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr15 62754707 . C T 204.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1110.91;QD=17.09;RankSumP=0.715310;SB=-449.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2601C>T;refseq.codonCoord=867;refseq.end=62754707;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2601;refseq.name=NM_015042;refseq.name2=ZNF609;refseq.positionType=CDS;refseq.proteinCoordStr=p.A867A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-802;refseq.start=62754707;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr15 62895557 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=235;Dels=0.00;HRun=2;HaplotypeScore=4.93;MQ=98.96;MQ0=0;OQ=2897.68;QD=12.33;RankSumP=0.197928;SB=-1415.44;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1919T>A;refseq.codonCoord=640;refseq.end=62895557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1985;refseq.name=NM_025049;refseq.name2=PIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I640N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=53;refseq.start=62895557;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr15 62901557 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.778G>C;refseq.codonCoord=260;refseq.end=62901557;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_025049;refseq.name2=PIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A260P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-40;refseq.start=62901557;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 62901558 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.777A>C;refseq.codonCoord=259;refseq.end=62901558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=843;refseq.name=NM_025049;refseq.name2=PIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A259A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-41;refseq.start=62901558;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr15 62901809 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=104;Dels=0.00;HRun=2;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=1690.97;QD=16.26;RankSumP=0.0349562;SB=-688.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.612G>A;refseq.codonCoord=204;refseq.end=62901809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_025049;refseq.name2=PIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K204K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=54;refseq.start=62901809;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr15 63023928 . T C 205.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=4.42;MQ=98.70;MQ0=0;OQ=3063.85;QD=15.63;RankSumP=0.0678061;SB=-852.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1092T>C;refseq.codonCoord=364;refseq.end=63023928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_182703;refseq.name2=ANKDD1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A364A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=27;refseq.start=63023928;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr15 63134458 . G A 205.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=99.00;MQ0=0;OQ=661.15;QD=16.95;RankSumP=0.629958;SB=-274.59;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.633C>T;refseq.codonCoord=211;refseq.end=63134458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_016563;refseq.name2=RASL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T211T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=208;refseq.start=63134458;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr15 63276181 . C T 395.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=98.52;MQ0=0;OQ=2410.01;QD=36.52;RankSumP=1.00000;SB=-914.19;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3496G>A;refseq.codonCoord=1166;refseq.end=63276181;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3677;refseq.name=NM_003613;refseq.name2=CILP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1166S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-792;refseq.start=63276181;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr15 63276741 . T C 264.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=7.01;MQ=98.57;MQ0=0;OQ=10569.97;QD=36.96;RankSumP=1.00000;SB=-3851.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2936A>G;refseq.codonCoord=979;refseq.end=63276741;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3117;refseq.name=NM_003613;refseq.name2=CILP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q979R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-1352;refseq.start=63276741;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr15 63277954 . T C 370.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=7972.12;QD=39.47;RankSumP=1.00000;SB=-3362.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1723A>G;refseq.codonCoord=575;refseq.end=63277954;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1904;refseq.name=NM_003613;refseq.name2=CILP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K575E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=537;refseq.start=63277954;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 63281265 . A G 290.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.80;MQ0=0;OQ=2843.47;QD=16.63;RankSumP=0.209318;SB=-808.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1184T>C;refseq.codonCoord=395;refseq.end=63281265;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_003613;refseq.name2=CILP;refseq.positionType=CDS;refseq.proteinCoordStr=p.I395T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=63281265;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr15 63287101 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.116A>C;refseq.codonCoord=39;refseq.end=63287101;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=297;refseq.name=NM_003613;refseq.name2=CILP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N39T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-39;refseq.start=63287101;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr15 63340299 . C T 205.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=98.98;MQ0=0;OQ=2349.50;QD=13.99;RankSumP=0.131763;SB=-985.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.810G>A;refseq.codonCoord=270;refseq.end=63340299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1064;refseq.name=NM_017851;refseq.name2=PARP16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V270V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-24;refseq.start=63340299;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr15 63408494 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.04;MQ0=0;OQ=363.64;QD=9.32;RankSumP=0.606462;SB=-77.05;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2251G>T;refseq.codonCoord=751;refseq.end=63408494;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2503;refseq.name=NM_004884;refseq.name2=IGDCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V751L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=46;refseq.start=63408494;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr15 63408910 . T C 260.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.57;MQ0=0;OQ=2268.41;QD=37.81;RankSumP=1.00000;SB=-511.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2076A>G;refseq.codonCoord=692;refseq.end=63408910;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2328;refseq.name=NM_004884;refseq.name2=IGDCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L692L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=79;refseq.start=63408910;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 63454777 . A G 145.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=97.86;MQ0=0;OQ=3720.29;QD=32.63;RankSumP=1.00000;SB=-887.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.120T>C;refseq.codonCoord=40;refseq.end=63454777;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_004884;refseq.name2=IGDCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A40A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=17;refseq.start=63454777;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 63472825 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1812T>G;refseq.codonCoord=604;refseq.end=63472825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2022;refseq.name=NM_020962;refseq.name2=IGDCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G604G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-74;refseq.start=63472825;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 63490546 . A G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=3;RankSumP=0.000327177;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.286T>C;refseq.codonCoord=96;refseq.end=63490546;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_020962;refseq.name2=IGDCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S96P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-136;refseq.start=63490546;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr15 63535711 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_2=c.2023A>C;refseq.codingCoordStr_3=c.2071A>C;refseq.codingCoordStr_4=c.2071A>C;refseq.codonCoord_2=675;refseq.codonCoord_3=691;refseq.codonCoord_4=691;refseq.end_1=63543141;refseq.end_2=63535711;refseq.end_3=63535711;refseq.end_4=63535711;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=2246;refseq.mrnaCoord_3=2236;refseq.mrnaCoord_4=2382;refseq.name2_1=DPP8;refseq.name2_2=DPP8;refseq.name2_3=DPP8;refseq.name2_4=DPP8;refseq.name_1=NM_017743;refseq.name_2=NM_130434;refseq.name_3=NM_197960;refseq.name_4=NM_197961;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T675P;refseq.proteinCoordStr_3=p.T691P;refseq.proteinCoordStr_4=p.T691P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.spliceDist_4=52;refseq.start_1=63531504;refseq.start_2=63535711;refseq.start_3=63535711;refseq.start_4=63535711;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr15 64408400 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=650;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=98.92;MQ0=0;OQ=12145.76;QD=18.69;RankSumP=0.151732;SB=-5040.30;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2240A>G;refseq.codingCoordStr_2=c.1991A>G;refseq.codonCoord_1=747;refseq.codonCoord_2=664;refseq.end_1=64408400;refseq.end_2=64408400;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2255;refseq.mrnaCoord_2=2174;refseq.name2_1=DIS3L;refseq.name2_2=DIS3L;refseq.name_1=NM_001143688;refseq.name_2=NM_133375;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N747S;refseq.proteinCoordStr_2=p.N664S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=64408400;refseq.start_2=64408400;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr15 64416448 . T C 215.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=9.82;MQ=98.81;MQ0=0;OQ=7786.55;QD=20.17;RankSumP=0.285162;SB=-3302.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.808A>G;refseq.codonCoord=270;refseq.end=64416448;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_017858;refseq.name2=TIPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N270D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=126;refseq.start=64416448;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr15 64416457 . C A 146.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=4.04;MQ=98.87;MQ0=0;OQ=6999.92;QD=18.57;RankSumP=0.457960;SB=-2739.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.799G>T;refseq.codonCoord=267;refseq.end=64416457;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_017858;refseq.name2=TIPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A267S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=117;refseq.start=64416457;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr15 64428471 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=527.37;QD=13.52;RankSumP=0.0822643;SB=-231.61;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.456A>G;refseq.codonCoord=152;refseq.end=64428471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_017858;refseq.name2=TIPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E152E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-20;refseq.start=64428471;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr15 64431575 . C G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=7161.30;QD=49.39;RankSumP=1.00000;SB=-2687.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.158G>C;refseq.codonCoord=53;refseq.end=64431575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_017858;refseq.name2=TIPIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R53P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=25;refseq.start=64431575;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr15 64580667 . T G 319.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=8.94;MQ=98.79;MQ0=0;OQ=4484.08;QD=20.11;RankSumP=0.387865;SB=-1237.71;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.end_1=64580756;refseq.end_2=64580667;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=44;refseq.name2_1=RPL4;refseq.name2_2=SNORD18C;refseq.name_1=NM_000968;refseq.name_2=NR_002443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-24;refseq.start_1=64580508;refseq.start_2=64580667;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr15 64582639 . T G 217.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=14.05;MQ=98.88;MQ0=0;OQ=6502.09;QD=18.06;RankSumP=0.487363;SB=-2107.82;SecondBestBaseQ=33;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.end_1=64582739;refseq.end_2=64582639;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=68;refseq.name2_1=RPL4;refseq.name2_2=SNORD18A;refseq.name_1=NM_000968;refseq.name_2=NR_002441;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=64582567;refseq.start_2=64582639;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr15 65244389 . A G 445.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=96.17;MQ0=0;OQ=3860.69;QD=37.12;RankSumP=1.00000;SB=-1855.39;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.-7A>G;refseq.codingCoordStr_2=c.177A>G;refseq.codingCoordStr_3=c.309A>G;refseq.codonCoord_2=59;refseq.codonCoord_3=103;refseq.end_1=65244389;refseq.end_2=65244389;refseq.end_3=65244389;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=372;refseq.mrnaCoord_2=183;refseq.mrnaCoord_3=607;refseq.name2_1=SMAD3;refseq.name2_2=SMAD3;refseq.name2_3=SMAD3;refseq.name_1=NM_001145102;refseq.name_2=NM_001145103;refseq.name_3=NM_005902;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L59L;refseq.proteinCoordStr_3=p.L103L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.spliceDist_3=-92;refseq.start_1=65244389;refseq.start_2=65244389;refseq.start_3=65244389;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr15 65479556 . T C 414.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.88;MQ0=0;OQ=7326.29;QD=41.63;RankSumP=1.00000;SB=-3289.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1956T>C;refseq.codonCoord=652;refseq.end=65479556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2053;refseq.name=NM_001031715;refseq.name2=IQCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R652R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=51;refseq.start=65479556;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr15 65555205 . G C 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=11.23;MQ=98.34;MQ0=0;OQ=13051.60;QD=47.98;RankSumP=1.00000;SB=-4828.68;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2794G>C;refseq.codonCoord=932;refseq.end=65555205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2891;refseq.name=NM_001031715;refseq.name2=IQCH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V932L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=65555205;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr15 65906417 . C T 31 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=0.000890211;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1065C>T;refseq.codonCoord=355;refseq.end=65906417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_001031807;refseq.name2=LBXCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F355F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=266;refseq.start=65906417;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr15 65911719 . C A 45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=1390.64;QD=37.58;RankSumP=1.00000;SB=-674.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2509C>A;refseq.codonCoord=837;refseq.end=65911719;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2509;refseq.name=NM_001031807;refseq.name2=LBXCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R837R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-22;refseq.start=65911719;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr15 66370229 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=641;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.93;MQ0=0;OQ=26212.74;QD=40.89;RankSumP=1.00000;SB=-10745.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1479T>C;refseq.codonCoord=493;refseq.end=66370229;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2094;refseq.name=NM_015322;refseq.name2=FEM1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N493N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-466;refseq.start=66370229;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr15 67025499 . G A 219.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=98.84;MQ0=0;OQ=12089.31;QD=22.22;RankSumP=0.192727;SB=-3661.38;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.572G>A;refseq.codonCoord_2=191;refseq.end_1=67054111;refseq.end_2=67025499;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=700;refseq.name2_1=NOX5;refseq.name2_2=SPESP1;refseq.name_1=NM_024505;refseq.name_2=NM_145658;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G191E;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=508;refseq.start_1=67010121;refseq.start_2=67025499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr15 67112635 . C T 300.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=97.72;MQ0=0;OQ=4274.40;QD=36.85;RankSumP=1.00000;SB=-1962.10;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.765C>T;refseq.codonCoord=255;refseq.end=67112635;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1066;refseq.name=NM_024505;refseq.name2=NOX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C255C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-37;refseq.start=67112635;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 67114879 . C T 271.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.82;MQ0=0;OQ=8143.08;QD=41.76;RankSumP=1.00000;SB=-3392.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.933C>T;refseq.codonCoord=311;refseq.end=67114879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1234;refseq.name=NM_024505;refseq.name2=NOX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T311T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-23;refseq.start=67114879;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr15 67115280 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=97.95;MQ0=0;OQ=1098.59;QD=13.40;RankSumP=0.128945;SB=-327.79;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1084C>T;refseq.codonCoord=362;refseq.end=67115280;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1385;refseq.name=NM_024505;refseq.name2=NOX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L362F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-51;refseq.start=67115280;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr15 67335353 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.154T>G;refseq.codonCoord=52;refseq.end=67335353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_015554;refseq.name2=GLCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.F52V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=167;refseq.start=67335353;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr15 67348572 . G A 249.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=6.68;MQ=98.82;MQ0=0;OQ=6785.31;QD=40.88;RankSumP=1.00000;SB=-1858.06;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1789G>A;refseq.codonCoord=597;refseq.end=67348572;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2017;refseq.name=NM_015554;refseq.name2=GLCE;refseq.positionType=CDS;refseq.proteinCoordStr=p.V597I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=960;refseq.start=67348572;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr15 67516003 . A G 271 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=98.88;MQ0=0;OQ=13127.99;QD=38.61;RankSumP=1.00000;SB=-6542.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1443A>G;refseq.codingCoordStr_2=c.1443A>G;refseq.codonCoord_1=481;refseq.codonCoord_2=481;refseq.end_1=67516003;refseq.end_2=67516003;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1560;refseq.mrnaCoord_2=1560;refseq.name2_1=KIF23;refseq.name2_2=KIF23;refseq.name_1=NM_004856;refseq.name_2=NM_138555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P481P;refseq.proteinCoordStr_2=p.P481P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=67516003;refseq.start_2=67516003;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr15 67519790 . C T 449.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.38;MQ0=0;OQ=7015.47;QD=41.51;RankSumP=1.00000;SB=-2402.43;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1977C>T;refseq.codingCoordStr_2=c.1977C>T;refseq.codonCoord_1=659;refseq.codonCoord_2=659;refseq.end_1=67519790;refseq.end_2=67519790;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2094;refseq.mrnaCoord_2=2094;refseq.name2_1=KIF23;refseq.name2_2=KIF23;refseq.name_1=NM_004856;refseq.name_2=NM_138555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T659T;refseq.proteinCoordStr_2=p.T659T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.start_1=67519790;refseq.start_2=67519790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr15 68747122 . G A 155.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=463;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.96;MQ0=0;OQ=9571.50;QD=20.67;RankSumP=0.444992;SB=-3719.09;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2916C>T;refseq.codingCoordStr_2=c.2955C>T;refseq.codonCoord_1=972;refseq.codonCoord_2=985;refseq.end_1=68747122;refseq.end_2=68747122;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3282;refseq.mrnaCoord_2=3059;refseq.name2_1=UACA;refseq.name2_2=UACA;refseq.name_1=NM_001008224;refseq.name_2=NM_018003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y972Y;refseq.proteinCoordStr_2=p.Y985Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-1006;refseq.spliceDist_2=-1006;refseq.start_1=68747122;refseq.start_2=68747122;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr15 68778979 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=498;Dels=0.00;HRun=0;HaplotypeScore=26.72;MQ=98.92;MQ0=0;OQ=11222.55;QD=22.54;RankSumP=0.345544;SB=-4326.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.114C>G;refseq.codingCoordStr_2=c.153C>G;refseq.codonCoord_1=38;refseq.codonCoord_2=51;refseq.end_1=68778979;refseq.end_2=68778979;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=257;refseq.name2_1=UACA;refseq.name2_2=UACA;refseq.name_1=NM_001008224;refseq.name_2=NM_018003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T38T;refseq.proteinCoordStr_2=p.T51T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=68778979;refseq.start_2=68778979;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr15 68971332 . G T 268.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.67;MQ0=0;OQ=2187.89;QD=35.29;RankSumP=1.00000;SB=-918.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.334C>A;refseq.codonCoord=112;refseq.end=68971332;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_020147;refseq.name2=THAP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R112R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-96;refseq.start=68971332;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr15 68971549 . A G 169.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=98.54;MQ0=0;OQ=2204.40;QD=31.05;RankSumP=1.00000;SB=-720.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.117T>C;refseq.codonCoord=39;refseq.end=68971549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_020147;refseq.name2=THAP10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G39G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=259;refseq.start=68971549;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 69063536 . A T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.304762;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1055A>T;refseq.codonCoord=352;refseq.end=69063536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_017691;refseq.name2=LRRC49;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q352L;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=50;refseq.start=69063536;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap GT 0/1 chr15 69063537 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.547619;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1056A>G;refseq.codonCoord=352;refseq.end=69063537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_017691;refseq.name2=LRRC49;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q352Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=51;refseq.start=69063537;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr15 69322469 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.892T>G;refseq.codonCoord=298;refseq.end=69322469;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y298D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-21;refseq.start=69322469;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr15 69336049 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=211;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.93;MQ0=0;OQ=2437.10;QD=11.55;RankSumP=0.225653;SB=-967.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.956C>T;refseq.codonCoord=319;refseq.end=69336049;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A319V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=44;refseq.start=69336049;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr15 69420557 . C T 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.521162;SecondBestBaseQ=31;refseq.chr=chr15;refseq.end=69491069;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=intron;refseq.start=69336119;refseq.transcriptStrand=+;set=soap GT 0/1 chr15 69420616 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.205180;SecondBestBaseQ=26;refseq.chr=chr15;refseq.end=69491069;refseq.haplotypeReference=*;refseq.inCodingRegion=false;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=intron;refseq.start=69336119;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr15 69739953 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=98.16;MQ0=0;OQ=587.14;QD=13.05;RankSumP=0.649828;SB=-236.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1183G>A;refseq.codonCoord=395;refseq.end=69739953;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1262;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D395N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=31;refseq.start=69739953;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr15 69740099 . G A 171.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.64;MQ0=0;OQ=3854.76;QD=21.18;RankSumP=0.237333;SB=-1053.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1329G>A;refseq.codonCoord=443;refseq.end=69740099;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T443T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-29;refseq.start=69740099;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr15 69827828 . C T 307.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=7.23;MQ=98.53;MQ0=0;OQ=14084.20;QD=40.94;RankSumP=1.00000;SB=-5605.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2256C>T;refseq.codonCoord=752;refseq.end=69827828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2335;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C752C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=15;refseq.start=69827828;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 69844523 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=6;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2700A>C;refseq.codonCoord=900;refseq.end=69844523;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2779;refseq.name=NM_024817;refseq.name2=THSD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K900N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-70;refseq.start=69844523;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr15 69978127 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=491;Dels=0.00;HRun=1;HaplotypeScore=23.51;MQ=98.67;MQ0=0;OQ=19491.94;QD=39.70;RankSumP=1.00000;SB=-8066.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3771A>G;refseq.codonCoord=1257;refseq.end=69978127;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4244;refseq.name=NM_006901;refseq.name2=MYO9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1257R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=301;refseq.start=69978127;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr15 69978320 . C T 248.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=10874.76;QD=43.33;RankSumP=1.00000;SB=-4637.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3578G>A;refseq.codonCoord=1193;refseq.end=69978320;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4051;refseq.name=NM_006901;refseq.name2=MYO9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1193E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=108;refseq.start=69978320;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr15 69979325 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3227G>A;refseq.codonCoord=1076;refseq.end=69979325;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3700;refseq.name=NM_006901;refseq.name2=MYO9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1076N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=77;refseq.start=69979325;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 0/1 chr15 70219637 . A G 382.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.80;MQ0=0;OQ=9296.65;QD=41.32;RankSumP=1.00000;SB=-3834.59;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_1=c.619A>G;refseq.codingCoordStr_2=c.619A>G;refseq.codingCoordStr_3=c.619A>G;refseq.codingCoordStr_4=c.619A>G;refseq.codingCoordStr_5=c.619A>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.codonCoord_3=207;refseq.codonCoord_4=207;refseq.codonCoord_5=207;refseq.end_1=70219637;refseq.end_2=70219637;refseq.end_3=70219637;refseq.end_4=70219637;refseq.end_5=70219637;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=952;refseq.mrnaCoord_2=1106;refseq.mrnaCoord_3=948;refseq.mrnaCoord_4=965;refseq.mrnaCoord_5=841;refseq.name2_1=SENP8;refseq.name2_2=SENP8;refseq.name2_3=SENP8;refseq.name2_4=SENP8;refseq.name2_5=SENP8;refseq.name_1=NM_001166340;refseq.name_2=NM_001172109;refseq.name_3=NM_001172110;refseq.name_4=NM_001172111;refseq.name_5=NM_145204;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T207A;refseq.proteinCoordStr_2=p.T207A;refseq.proteinCoordStr_3=p.T207A;refseq.proteinCoordStr_4=p.T207A;refseq.proteinCoordStr_5=p.T207A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=666;refseq.spliceDist_2=666;refseq.spliceDist_3=666;refseq.spliceDist_4=666;refseq.spliceDist_5=666;refseq.start_1=70219637;refseq.start_2=70219637;refseq.start_3=70219637;refseq.start_4=70219637;refseq.start_5=70219637;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;set=Intersection GT 1/1 chr15 70241404 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1065A>C;refseq.codonCoord=355;refseq.end=70241404;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_001012642;refseq.name2=GRAMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.*355Y;refseq.referenceAA=Stop;refseq.referenceCodon=TAA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=70241404;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr15 70424849 . T C 245.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=11.91;MQ=98.65;MQ0=0;OQ=10153.88;QD=39.51;RankSumP=1.00000;SB=-3789.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1518A>G;refseq.codonCoord=506;refseq.end=70424849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1725;refseq.name=NM_000520;refseq.name2=HEXA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E506E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=70424849;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 70425946 . T C 411.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.40;MQ0=0;OQ=4471.09;QD=36.95;RankSumP=1.00000;SB=-1980.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1306A>G;refseq.codonCoord=436;refseq.end=70425946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1513;refseq.name=NM_000520;refseq.name2=HEXA;refseq.positionType=CDS;refseq.proteinCoordStr=p.I436V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-25;refseq.start=70425946;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr15 70427103 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=227;Dels=0.00;HRun=2;HaplotypeScore=17.79;MQ=98.55;MQ0=0;OQ=107.43;QD=0.47;RankSumP=0.00000;SB=423.44;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1124A>G;refseq.codonCoord=375;refseq.end=70427103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1331;refseq.name=NM_000520;refseq.name2=HEXA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E375G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-23;refseq.start=70427103;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 70432494 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.539A>C;refseq.codonCoord=180;refseq.end=70432494;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_000520;refseq.name2=HEXA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y180S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-32;refseq.start=70432494;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr15 70810778 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.791G>T;refseq.codonCoord=264;refseq.end=70810778;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_033028;refseq.name2=BBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C264F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-74;refseq.start=70810778;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr15 70810990 . T C 136.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=551;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.85;MQ0=0;OQ=21208.65;QD=38.49;RankSumP=1.00000;SB=-9319.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.906T>C;refseq.codonCoord=302;refseq.end=70810990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_033028;refseq.name2=BBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F302F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=42;refseq.start=70810990;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr15 70814531 . T C 455.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.85;MQ0=0;OQ=4831.72;QD=40.60;RankSumP=1.00000;SB=-1871.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1061T>C;refseq.codonCoord=354;refseq.end=70814531;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1104;refseq.name=NM_033028;refseq.name2=BBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I354T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=25;refseq.start=70814531;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr15 70816269 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1362A>C;refseq.codonCoord=454;refseq.end=70816269;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_033028;refseq.name2=BBS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K454N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-89;refseq.start=70816269;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr15 70831882 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=439;Dels=0.00;HRun=3;HaplotypeScore=39.93;MQ=98.08;MQ0=0;OQ=499.03;QD=1.14;RankSumP=0.00000;SB=622.07;SecondBestBaseQ=17;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_3=c.1344C>A;refseq.codonCoord_3=448;refseq.end_1=70831882;refseq.end_2=70831882;refseq.end_3=70831882;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1651;refseq.mrnaCoord_2=1152;refseq.mrnaCoord_3=1438;refseq.name2_1=ADPGK;refseq.name2_2=ADPGK;refseq.name2_3=ADPGK;refseq.name_1=NR_023318;refseq.name_2=NR_023319;refseq.name_3=NM_031284;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.N448K;refseq.referenceAA_3=Asn;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=405;refseq.spliceDist_2=408;refseq.spliceDist_3=405;refseq.start_1=70831882;refseq.start_2=70831882;refseq.start_3=70831882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Lys;refseq.variantCodon_3=AAA;set=FilteredInAll GT 0/1 chr15 70854287 . T C 430.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=98.79;MQ0=0;OQ=9329.56;QD=39.04;RankSumP=1.00000;SB=-3124.67;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_3=c.438A>G;refseq.codonCoord_3=146;refseq.end_1=70862842;refseq.end_2=70854287;refseq.end_3=70854287;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=745;refseq.mrnaCoord_3=532;refseq.name2_1=ADPGK;refseq.name2_2=ADPGK;refseq.name2_3=ADPGK;refseq.name_1=NR_023319;refseq.name_2=NR_023318;refseq.name_3=NM_031284;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A146A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=70839932;refseq.start_2=70854287;refseq.start_3=70854287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr15 71315742 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1293A>C;refseq.codingCoordStr_2=c.1293A>C;refseq.codingCoordStr_3=c.1293A>C;refseq.codonCoord_1=431;refseq.codonCoord_2=431;refseq.codonCoord_3=431;refseq.end_1=71315742;refseq.end_2=71315742;refseq.end_3=71315742;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1485;refseq.mrnaCoord_2=1485;refseq.mrnaCoord_3=1485;refseq.name2_1=NEO1;refseq.name2_2=NEO1;refseq.name2_3=NEO1;refseq.name_1=NM_001172623;refseq.name_2=NM_001172624;refseq.name_3=NM_002499;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A431A;refseq.proteinCoordStr_2=p.A431A;refseq.proteinCoordStr_3=p.A431A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=71315742;refseq.start_2=71315742;refseq.start_3=71315742;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr15 71401887 . T C 158.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=692.43;QD=16.10;RankSumP=0.631170;SB=-180.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3600A>G;refseq.codonCoord=1200;refseq.end=71401887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4594;refseq.name=NM_005477;refseq.name2=HCN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1200P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1457;refseq.start=71401887;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr15 71447078 . G C 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.000140695;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.587C>G;refseq.codonCoord=196;refseq.end=71447078;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_005477;refseq.name2=HCN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A196G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-199;refseq.start=71447078;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 71819346 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=11;DP=499;Dels=0.00;HRun=1;HaplotypeScore=64.20;MQ=97.65;MQ0=0;OQ=88.21;QD=0.18;RankSumP=2.39146e-05;SB=348.11;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.847A>C;refseq.codonCoord=283;refseq.end=71819346;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_001039614;refseq.name2=C15orf59;refseq.positionType=CDS;refseq.proteinCoordStr=p.T283P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-153;refseq.start=71819346;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr15 71819836 . A G 128.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=2.80;MQ=98.48;MQ0=0;OQ=3887.59;QD=34.10;RankSumP=1.00000;SB=-1709.22;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.357T>C;refseq.codonCoord=119;refseq.end=71819836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_001039614;refseq.name2=C15orf59;refseq.positionType=CDS;refseq.proteinCoordStr=p.S119S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=201;refseq.start=71819836;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr15 72006599 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=97.63;MQ0=0;OQ=672.05;QD=14.61;RankSumP=0.518316;SB=-106.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.422G>T;refseq.codonCoord=141;refseq.end=72006599;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_005576;refseq.name2=LOXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R141L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-681;refseq.start=72006599;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr15 72006731 . T C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=1;RankSumP=2.04361e-08;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.554T>C;refseq.codonCoord=185;refseq.end=72006731;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_005576;refseq.name2=LOXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V185A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-549;refseq.start=72006731;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr15 72064848 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=181.75;QD=13.98;RankSumP=0.615851;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.654A>G;refseq.codonCoord=218;refseq.end=72064848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_004809;refseq.name2=STOML1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A218A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=60;refseq.start=72064848;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr15 72114967 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_6=false;refseq.changesAA_9=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.chr_6=chr15;refseq.chr_7=chr15;refseq.chr_8=chr15;refseq.chr_9=chr15;refseq.codingCoordStr_6=c.2112T>C;refseq.codingCoordStr_7=c.*917T>C;refseq.codingCoordStr_8=c.*437T>C;refseq.codingCoordStr_9=c.1968T>C;refseq.codonCoord_6=704;refseq.codonCoord_9=656;refseq.end_1=72115390;refseq.end_2=72122372;refseq.end_3=72122372;refseq.end_4=72122372;refseq.end_5=72122372;refseq.end_6=72114967;refseq.end_7=72114967;refseq.end_8=72114967;refseq.end_9=72114967;refseq.frame_6=2;refseq.frame_9=2;refseq.functionalClass_6=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=false;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=true;refseq.mrnaCoord_6=2252;refseq.mrnaCoord_7=2893;refseq.mrnaCoord_8=2260;refseq.mrnaCoord_9=2108;refseq.name2_1=PML;refseq.name2_2=PML;refseq.name2_3=PML;refseq.name2_4=PML;refseq.name2_5=PML;refseq.name2_6=PML;refseq.name2_7=PML;refseq.name2_8=PML;refseq.name2_9=PML;refseq.name_1=NM_033247;refseq.name_2=NM_002675;refseq.name_3=NM_033238;refseq.name_4=NM_033246;refseq.name_5=NM_033249;refseq.name_6=NM_033239;refseq.name_7=NM_033240;refseq.name_8=NM_033244;refseq.name_9=NM_033250;refseq.numMatchingRecords=9;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=CDS;refseq.positionType_7=utr3;refseq.positionType_8=utr3;refseq.positionType_9=CDS;refseq.proteinCoordStr_6=p.H704H;refseq.proteinCoordStr_9=p.H656H;refseq.referenceAA_6=His;refseq.referenceAA_9=His;refseq.referenceCodon_6=CAT;refseq.referenceCodon_9=CAT;refseq.spliceDist_6=402;refseq.spliceDist_7=-822;refseq.spliceDist_8=402;refseq.spliceDist_9=402;refseq.start_1=72104332;refseq.start_2=72113935;refseq.start_3=72113935;refseq.start_4=72113935;refseq.start_5=72113935;refseq.start_6=72114967;refseq.start_7=72114967;refseq.start_8=72114967;refseq.start_9=72114967;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_6=His;refseq.variantAA_9=His;refseq.variantCodon_6=CAC;refseq.variantCodon_9=CAC;set=FilteredInAll GT 1/0 chr15 72123686 . T C 60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=12.74;MQ=98.55;MQ0=0;OQ=5350.44;QD=39.93;RankSumP=1.00000;SB=-1907.44;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1933T>C;refseq.codonCoord=645;refseq.end=72123686;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2073;refseq.name=NM_033238;refseq.name2=PML;refseq.positionType=CDS;refseq.proteinCoordStr=p.F645L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=72;refseq.start=72123686;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr15 72150360 . C T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.285714;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2026G>A;refseq.codonCoord=676;refseq.end=72150360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2067;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D676N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=72;refseq.start=72150360;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr15 72150431 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.406767;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1955T>A;refseq.codonCoord=652;refseq.end=72150431;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1996;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V652D;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=72150431;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr15 72150527 . C A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1945G>T;refseq.codonCoord=649;refseq.end=72150527;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1986;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E649*;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=72150527;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 1/0 chr15 72150955 . G A 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.160714;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1689C>T;refseq.codonCoord=563;refseq.end=72150955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1730;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D563D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=72150955;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr15 72152186 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0652239;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1451A>G;refseq.codonCoord=484;refseq.end=72152186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1492;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q484R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=26;refseq.start=72152186;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr15 72152188 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.253823;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1449C>G;refseq.codonCoord=483;refseq.end=72152188;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1490;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H483Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=24;refseq.start=72152188;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr15 72153914 . G C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=0.359880;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1329C>G;refseq.codonCoord=443;refseq.end=72153914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1370;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A443A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-28;refseq.start=72153914;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr15 72153950 . C A 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.0573142;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1293G>T;refseq.codonCoord=431;refseq.end=72153950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A431A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-64;refseq.start=72153950;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr15 72154191 . G A 52 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00729787;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1052C>T;refseq.codonCoord=351;refseq.end=72154191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A351V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=205;refseq.start=72154191;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr15 72154286 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.404519;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.957G>A;refseq.codonCoord=319;refseq.end=72154286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=998;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q319Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=110;refseq.start=72154286;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr15 72154376 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.573467;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.867G>A;refseq.codonCoord=289;refseq.end=72154376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A289A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=20;refseq.start=72154376;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 0/1 chr15 72154393 . C T 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.482707;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=72154393;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E284K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=72154393;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 0/1 chr15 72154815 . C A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.660714;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.829G>T;refseq.codonCoord=277;refseq.end=72154815;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E277*;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=72154815;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr15 72155346 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.199887;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.598T>C;refseq.codonCoord=200;refseq.end=72155346;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.W200R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=34;refseq.start=72155346;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr15 72155350 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.236819;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.594G>C;refseq.codonCoord=198;refseq.end=72155350;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q198H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=30;refseq.start=72155350;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 1/0 chr15 72156446 . C G 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.466667;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.530G>C;refseq.codonCoord=177;refseq.end=72156446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C177S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-35;refseq.start=72156446;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr15 72156473 . C T 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.142191;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.503G>A;refseq.codonCoord=168;refseq.end=72156473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R168H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=46;refseq.start=72156473;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr15 72156804 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.403682;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.368G>A;refseq.codonCoord=123;refseq.end=72156804;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R123Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=72156804;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr15 72157142 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0449169;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.291G>A;refseq.codonCoord=97;refseq.end=72157142;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q97Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=72157142;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr15 72160027 . A C 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.443748;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.187T>G;refseq.codonCoord=63;refseq.end=72160027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=228;refseq.name=NM_001038640;refseq.name2=GOLGA6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C63G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-18;refseq.start=72160027;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr15 72214318 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.2170C>G;refseq.codingCoordStr_2=c.2170C>G;refseq.codingCoordStr_3=c.2170C>G;refseq.codingCoordStr_4=c.2170C>G;refseq.codonCoord_1=724;refseq.codonCoord_2=724;refseq.codonCoord_3=724;refseq.codonCoord_4=724;refseq.end_1=72214318;refseq.end_2=72214318;refseq.end_3=72214318;refseq.end_4=72214318;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2939;refseq.mrnaCoord_2=2675;refseq.mrnaCoord_3=2383;refseq.mrnaCoord_4=2508;refseq.name2_1=ISLR2;refseq.name2_2=ISLR2;refseq.name2_3=ISLR2;refseq.name2_4=ISLR2;refseq.name_1=NM_001130136;refseq.name_2=NM_001130137;refseq.name_3=NM_001130138;refseq.name_4=NM_020851;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P724A;refseq.proteinCoordStr_2=p.P724A;refseq.proteinCoordStr_3=p.P724A;refseq.proteinCoordStr_4=p.P724A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=-1879;refseq.spliceDist_2=-1879;refseq.spliceDist_3=-1879;refseq.spliceDist_4=-1879;refseq.start_1=72214318;refseq.start_2=72214318;refseq.start_3=72214318;refseq.start_4=72214318;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chr15 72214322 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.2174T>C;refseq.codingCoordStr_2=c.2174T>C;refseq.codingCoordStr_3=c.2174T>C;refseq.codingCoordStr_4=c.2174T>C;refseq.codonCoord_1=725;refseq.codonCoord_2=725;refseq.codonCoord_3=725;refseq.codonCoord_4=725;refseq.end_1=72214322;refseq.end_2=72214322;refseq.end_3=72214322;refseq.end_4=72214322;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2943;refseq.mrnaCoord_2=2679;refseq.mrnaCoord_3=2387;refseq.mrnaCoord_4=2512;refseq.name2_1=ISLR2;refseq.name2_2=ISLR2;refseq.name2_3=ISLR2;refseq.name2_4=ISLR2;refseq.name_1=NM_001130136;refseq.name_2=NM_001130137;refseq.name_3=NM_001130138;refseq.name_4=NM_020851;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L725P;refseq.proteinCoordStr_2=p.L725P;refseq.proteinCoordStr_3=p.L725P;refseq.proteinCoordStr_4=p.L725P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.spliceDist_1=-1875;refseq.spliceDist_2=-1875;refseq.spliceDist_3=-1875;refseq.spliceDist_4=-1875;refseq.start_1=72214322;refseq.start_2=72214322;refseq.start_3=72214322;refseq.start_4=72214322;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=FilteredInAll GT 1/0 chr15 72254909 . G A 144.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=97.46;MQ0=0;OQ=2177.77;QD=33.50;RankSumP=1.00000;SB=-793.57;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.657G>A;refseq.codingCoordStr_2=c.657G>A;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=72254909;refseq.end_2=72254909;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=755;refseq.name2_1=ISLR;refseq.name2_2=ISLR;refseq.name_1=NM_005545;refseq.name_2=NM_201526;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T219T;refseq.proteinCoordStr_2=p.T219T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=665;refseq.spliceDist_2=665;refseq.start_1=72254909;refseq.start_2=72254909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr15 72277202 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.codingCoordStr_1=c.124T>C;refseq.codingCoordStr_2=c.124T>C;refseq.codingCoordStr_3=c.124T>C;refseq.codingCoordStr_4=c.124T>C;refseq.codingCoordStr_5=c.124T>C;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.codonCoord_3=42;refseq.codonCoord_4=42;refseq.codonCoord_5=42;refseq.end_1=72277202;refseq.end_2=72277202;refseq.end_3=72277202;refseq.end_4=72277202;refseq.end_5=72277202;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=352;refseq.mrnaCoord_3=370;refseq.mrnaCoord_4=370;refseq.mrnaCoord_5=306;refseq.name2_1=STRA6;refseq.name2_2=STRA6;refseq.name2_3=STRA6;refseq.name2_4=STRA6;refseq.name2_5=STRA6;refseq.name_1=NM_001142617;refseq.name_2=NM_001142618;refseq.name_3=NM_001142619;refseq.name_4=NM_001142620;refseq.name_5=NM_022369;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S42P;refseq.proteinCoordStr_2=p.S42P;refseq.proteinCoordStr_3=p.S42P;refseq.proteinCoordStr_4=p.S42P;refseq.proteinCoordStr_5=p.S42P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.spliceDist_4=11;refseq.spliceDist_5=11;refseq.start_1=72277202;refseq.start_2=72277202;refseq.start_3=72277202;refseq.start_4=72277202;refseq.start_5=72277202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr15 72409731 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=97.32;MQ0=0;OQ=463.03;QD=19.29;RankSumP=0.407702;SB=-122.93;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1439G>A;refseq.codingCoordStr_2=c.218G>A;refseq.codonCoord_1=480;refseq.codonCoord_2=73;refseq.end_1=72409731;refseq.end_2=72409731;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1833;refseq.mrnaCoord_2=249;refseq.name2_1=CCDC33;refseq.name2_2=CCDC33;refseq.name_1=NM_025055;refseq.name_2=NM_182791;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S480N;refseq.proteinCoordStr_2=p.S73N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=72409731;refseq.start_2=72409731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr15 72623493 . G T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.190476;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.163G>T;refseq.codonCoord=55;refseq.end=72623493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_006465;refseq.name2=ARID3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A55S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=240;refseq.start=72623493;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr15 72623513 . T C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.233333;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.183T>C;refseq.codonCoord=61;refseq.end=72623513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_006465;refseq.name2=ARID3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S61S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=260;refseq.start=72623513;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr15 72671210 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr15;refseq.codingCoordStr=c.1420+2;refseq.end=72671210;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_006465;refseq.name2=ARID3B;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=72671210;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr15 72709254 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.666667;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1894A>C;refseq.codingCoordStr_2=c.1450A>C;refseq.codonCoord_1=632;refseq.codonCoord_2=484;refseq.end_1=72709254;refseq.end_2=72709254;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2355;refseq.mrnaCoord_2=1505;refseq.name2_1=CLK3;refseq.name2_2=CLK3;refseq.name_1=NM_001130028;refseq.name_2=NM_003992;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T632P;refseq.proteinCoordStr_2=p.T484P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=154;refseq.spliceDist_2=154;refseq.start_1=72709254;refseq.start_2=72709254;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr15 72831544 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1069C>G;refseq.codonCoord=357;refseq.end=72831544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_000761;refseq.name2=CYP1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P357A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=27;refseq.start=72831544;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr15 72832652 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1241T>G;refseq.codonCoord=414;refseq.end=72832652;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_000761;refseq.name2=CYP1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V414G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-13;refseq.start=72832652;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr15 72834231 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1300A>C;refseq.codonCoord=434;refseq.end=72834231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1364;refseq.name=NM_000761;refseq.name2=CYP1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T434P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=47;refseq.start=72834231;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr15 72834479 . C T 126.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=98.05;MQ0=0;OQ=5527.68;QD=31.95;RankSumP=1.00000;SB=-1245.16;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1548C>T;refseq.codonCoord=516;refseq.end=72834479;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1612;refseq.name=NM_000761;refseq.name2=CYP1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N516N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=295;refseq.start=72834479;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr15 72969995 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.91T>G;refseq.codonCoord=31;refseq.end=72969995;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_002435;refseq.name2=MPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.L31V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-54;refseq.start=72969995;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr15 72975628 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.753C>G;refseq.codonCoord=251;refseq.end=72975628;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_002435;refseq.name2=MPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.C251W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=83;refseq.start=72975628;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr15 72976983 . A G 330.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=3330.58;QD=41.63;RankSumP=1.00000;SB=-384.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1131A>G;refseq.codonCoord=377;refseq.end=72976983;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_002435;refseq.name2=MPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.V377V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=78;refseq.start=72976983;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr15 73123782 . A G 312.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.81;MQ0=0;OQ=10786.27;QD=40.40;RankSumP=1.00000;SB=-4298.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.234A>G;refseq.codonCoord=78;refseq.end=73123782;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_021823;refseq.name2=PPCDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I78M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=73123782;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr15 73285601 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=97.51;MQ0=0;OQ=1986.42;QD=35.47;RankSumP=1.00000;SB=-811.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.159A>G;refseq.codonCoord=53;refseq.end=73285601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=209;refseq.start=73285601;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr15 73286655 . C A 305.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=97.93;MQ0=0;OQ=1767.78;QD=33.35;RankSumP=1.00000;SB=-889.90;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1213C>A;refseq.codonCoord=405;refseq.end=73286655;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.R405R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1263;refseq.start=73286655;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr15 73286672 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=98.20;MQ0=0;OQ=1757.52;QD=28.35;RankSumP=1.00000;SB=-766.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1230T>C;refseq.codonCoord=410;refseq.end=73286672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.P410P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=1280;refseq.start=73286672;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr15 73286914 . G A 257.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=12.04;MQ=98.36;MQ0=0;OQ=12377.83;QD=38.56;RankSumP=1.00000;SB=-5493.29;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1472G>A;refseq.codonCoord=491;refseq.end=73286914;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1702;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.G491D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1305;refseq.start=73286914;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr15 73287575 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2133T>C;refseq.codonCoord=711;refseq.end=73287575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2363;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.P711P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-644;refseq.start=73287575;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 73290200 . G A 450.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.54;MQ0=0;OQ=5779.51;QD=39.32;RankSumP=1.00000;SB=-1486.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2834G>A;refseq.codonCoord=945;refseq.end=73290200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3064;refseq.name=NM_015492;refseq.name2=C15orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.G945D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=58;refseq.start=73290200;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr15 73437889 . G A 370.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.66;MQ0=0;OQ=2065.62;QD=36.24;RankSumP=1.00000;SB=-724.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2370C>T;refseq.codonCoord=790;refseq.end=73437889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2387;refseq.name=NM_006715;refseq.name2=MAN2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D790D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-34;refseq.start=73437889;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr15 73492266 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.647T>C;refseq.codingCoordStr_2=c.647T>C;refseq.codingCoordStr_3=c.647T>C;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.codonCoord_3=216;refseq.end_1=73492266;refseq.end_2=73492266;refseq.end_3=73492266;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=1004;refseq.mrnaCoord_3=906;refseq.name2_1=SIN3A;refseq.name2_2=SIN3A;refseq.name2_3=SIN3A;refseq.name_1=NM_001145357;refseq.name_2=NM_001145358;refseq.name_3=NM_015477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I216T;refseq.proteinCoordStr_2=p.I216T;refseq.proteinCoordStr_3=p.I216T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.spliceDist_3=-110;refseq.start_1=73492266;refseq.start_2=73492266;refseq.start_3=73492266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr15 73492276 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.637A>C;refseq.codingCoordStr_2=c.637A>C;refseq.codingCoordStr_3=c.637A>C;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.codonCoord_3=213;refseq.end_1=73492276;refseq.end_2=73492276;refseq.end_3=73492276;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=819;refseq.mrnaCoord_2=994;refseq.mrnaCoord_3=896;refseq.name2_1=SIN3A;refseq.name2_2=SIN3A;refseq.name2_3=SIN3A;refseq.name_1=NM_001145357;refseq.name_2=NM_001145358;refseq.name_3=NM_015477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T213P;refseq.proteinCoordStr_2=p.T213P;refseq.proteinCoordStr_3=p.T213P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.spliceDist_3=-120;refseq.start_1=73492276;refseq.start_2=73492276;refseq.start_3=73492276;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr15 73757125 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=16.90;MQ=98.04;MQ0=0;OQ=1018.19;QD=7.66;RankSumP=0.321569;SB=-471.46;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.5108G>A;refseq.codonCoord=1703;refseq.end=73757125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5201;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1703H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-27;refseq.start=73757125;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr15 73764975 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=2.70;MQ=66.26;MQ0=12;OQ=339.90;QD=6.07;RankSumP=0.203258;SB=-151.26;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3912T>C;refseq.codonCoord=1304;refseq.end=73764975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4005;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1304P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=123;refseq.start=73764975;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr15 73766837 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=88.33;MQ0=0;OQ=410.23;QD=8.92;RankSumP=0.545924;SB=-219.59;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3624C>A;refseq.codonCoord=1208;refseq.end=73766837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3717;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1208R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-166;refseq.start=73766837;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr15 73767167 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=98.02;MQ0=0;OQ=845.86;QD=9.30;RankSumP=0.365318;SB=-410.93;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3294T>C;refseq.codonCoord=1098;refseq.end=73767167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3387;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1098A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-496;refseq.start=73767167;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr15 73768562 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=3.43;MQ=75.25;MQ0=7;OQ=561.79;QD=8.51;RankSumP=0.398190;SB=-142.74;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1899T>C;refseq.codonCoord=633;refseq.end=73768562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1992;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G633G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1647;refseq.start=73768562;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr15 73768999 . C T 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0148834;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1462G>A;refseq.codonCoord=488;refseq.end=73768999;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A488T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1210;refseq.start=73768999;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr15 73769000 . T G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.182697;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1461A>C;refseq.codonCoord=487;refseq.end=73769000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1554;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G487G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=1209;refseq.start=73769000;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr15 73769483 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=49.42;MQ0=30;OQ=307.59;QD=4.27;RankSumP=0.679324;SB=-166.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.978G>A;refseq.codonCoord=326;refseq.end=73769483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_001897;refseq.name2=CSPG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G326G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=726;refseq.start=73769483;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 0/1 chr15 73806702 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.591A>G;refseq.codonCoord=197;refseq.end=73806702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=813;refseq.name=NM_175881;refseq.name2=ODF3L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G197G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=248;refseq.start=73806702;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 74236050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.278T>G;refseq.codonCoord=93;refseq.end=74236050;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=433;refseq.name=NM_152335;refseq.name2=C15orf27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=51;refseq.start=74236050;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr15 74417358 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=15.37;MQ=98.09;MQ0=0;OQ=6722.20;QD=30.42;RankSumP=1.00000;SB=-1737.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.243T>C;refseq.codonCoord=81;refseq.end=74417358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_145805;refseq.name2=ISL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y81Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=74417358;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr15 75131848 . T A 230.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=1;HaplotypeScore=7.29;MQ=98.54;MQ0=0;OQ=14818.54;QD=40.05;RankSumP=1.00000;SB=-5716.91;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.411A>T;refseq.codingCoordStr_2=c.603A>T;refseq.codingCoordStr_3=c.528A>T;refseq.codonCoord_1=137;refseq.codonCoord_2=201;refseq.codonCoord_3=176;refseq.end_1=75131848;refseq.end_2=75131848;refseq.end_3=75131848;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=685;refseq.mrnaCoord_2=877;refseq.mrnaCoord_3=802;refseq.name2_1=TSPAN3;refseq.name2_2=TSPAN3;refseq.name2_3=TSPAN3;refseq.name_1=NM_001168412;refseq.name_2=NM_005724;refseq.name_3=NM_198902;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V137V;refseq.proteinCoordStr_2=p.V201V;refseq.proteinCoordStr_3=p.V176V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=75131848;refseq.start_2=75131848;refseq.start_3=75131848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr15 75238019 . C T 257.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=6.16;MQ=98.82;MQ0=0;OQ=12171.84;QD=43.32;RankSumP=1.00000;SB=-4917.17;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3212G>A;refseq.codonCoord=1071;refseq.end=75238019;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3520;refseq.name=NM_024776;refseq.name2=SGK269;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1071K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=75;refseq.start=75238019;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr15 75259148 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2176T>C;refseq.codonCoord=726;refseq.end=75259148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2484;refseq.name=NM_024776;refseq.name2=SGK269;refseq.positionType=CDS;refseq.proteinCoordStr=p.S726P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-962;refseq.start=75259148;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr15 75557872 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=5.55773e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.872T>G;refseq.codonCoord=291;refseq.end=75557872;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1073;refseq.name=NM_018200;refseq.name2=HMG20A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V291G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-36;refseq.start=75557872;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 76185201 . G A 227.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=98.84;MQ0=0;OQ=2530.97;QD=16.43;RankSumP=0.259250;SB=-393.93;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.477C>T;refseq.codonCoord=159;refseq.end=76185201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_006383;refseq.name2=CIB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D159D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-66;refseq.start=76185201;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr15 76352533 . C T 295.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=3558.70;QD=42.37;RankSumP=1.00000;SB=-1678.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.355C>T;refseq.codingCoordStr_2=c.274C>T;refseq.codingCoordStr_3=c.442C>T;refseq.codonCoord_1=119;refseq.codonCoord_2=92;refseq.codonCoord_3=148;refseq.end_1=76352533;refseq.end_2=76352533;refseq.end_3=76352533;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=472;refseq.mrnaCoord_2=299;refseq.mrnaCoord_3=611;refseq.name2_1=DNAJA4;refseq.name2_2=DNAJA4;refseq.name2_3=DNAJA4;refseq.name_1=NM_001130182;refseq.name_2=NM_001130183;refseq.name_3=NM_018602;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L119L;refseq.proteinCoordStr_2=p.L92L;refseq.proteinCoordStr_3=p.L148L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=76352533;refseq.start_2=76352533;refseq.start_3=76352533;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=Intersection GT 1/1 chr15 76359814 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=80;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.71;MQ0=0;OQ=1127.42;QD=14.09;RankSumP=0.0967636;SB=-394.44;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1151A>G;refseq.codingCoordStr_2=c.1070A>G;refseq.codingCoordStr_3=c.1238A>G;refseq.codonCoord_1=384;refseq.codonCoord_2=357;refseq.codonCoord_3=413;refseq.end_1=76359814;refseq.end_2=76359814;refseq.end_3=76359814;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1268;refseq.mrnaCoord_2=1095;refseq.mrnaCoord_3=1407;refseq.name2_1=DNAJA4;refseq.name2_2=DNAJA4;refseq.name2_3=DNAJA4;refseq.name_1=NM_001130182;refseq.name_2=NM_001130183;refseq.name_3=NM_018602;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D384G;refseq.proteinCoordStr_2=p.D357G;refseq.proteinCoordStr_3=p.D413G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.spliceDist_3=173;refseq.start_1=76359814;refseq.start_2=76359814;refseq.start_3=76359814;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 0/1 chr15 76545732 . G C 193.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.74;MQ0=0;OQ=5402.22;QD=44.28;RankSumP=1.00000;SB=-1463.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.475G>C;refseq.codonCoord=159;refseq.end=76545732;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_004136;refseq.name2=IREB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V159L;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=65;refseq.start=76545732;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr15 76555611 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=253;Dels=0.00;HRun=2;HaplotypeScore=12.25;MQ=97.95;MQ0=0;OQ=275.34;QD=1.09;RankSumP=0.00000;SB=357.22;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1050A>G;refseq.codonCoord=350;refseq.end=76555611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_004136;refseq.name2=IREB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G350G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=27;refseq.start=76555611;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 76567159 . T C 123.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.72;MQ0=0;OQ=14904.31;QD=40.50;RankSumP=1.00000;SB=-7165.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1739T>C;refseq.codonCoord=580;refseq.end=76567159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1901;refseq.name=NM_004136;refseq.name2=IREB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I580T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=30;refseq.start=76567159;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr15 76576543 . C T 322.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.89;MQ0=0;OQ=4733.91;QD=16.67;RankSumP=0.307748;SB=-1640.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2616C>T;refseq.codonCoord=872;refseq.end=76576543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2778;refseq.name=NM_004136;refseq.name2=IREB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A872A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=21;refseq.start=76576543;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr15 76612972 . A G 143.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=2;HaplotypeScore=6.14;MQ=98.85;MQ0=0;OQ=4499.13;QD=18.44;RankSumP=9.67137e-07;SB=-1324.38;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.1027A>G;refseq.codonCoord_2=343;refseq.end_1=76616686;refseq.end_2=76612972;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1140;refseq.name2_1=AGPHD1;refseq.name2_2=AGPHD1;refseq.name_1=NM_001083612;refseq.name_2=NM_001013619;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K343E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=-96;refseq.start_1=76606971;refseq.start_2=76612972;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=filterInsoap-gatk GT 0/1 chr15 76628275 . T C 365.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=3573.43;QD=36.46;RankSumP=1.00000;SB=-1157.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.720T>C;refseq.codingCoordStr_2=c.507T>C;refseq.codingCoordStr_3=c.720T>C;refseq.codonCoord_1=240;refseq.codonCoord_2=169;refseq.codonCoord_3=240;refseq.end_1=76628275;refseq.end_2=76628275;refseq.end_3=76628275;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=715;refseq.mrnaCoord_3=878;refseq.name2_1=PSMA4;refseq.name2_2=PSMA4;refseq.name2_3=PSMA4;refseq.name_1=NM_001102667;refseq.name_2=NM_001102668;refseq.name_3=NM_002789;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H240H;refseq.proteinCoordStr_2=p.H169H;refseq.proteinCoordStr_3=p.H240H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.spliceDist_3=89;refseq.start_1=76628275;refseq.start_2=76628275;refseq.start_3=76628275;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr15 76669980 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=316;Dels=0.00;HRun=1;HaplotypeScore=17.37;MQ=98.73;MQ0=0;OQ=6447.44;QD=20.40;RankSumP=0.0389272;SB=-2214.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1192G>A;refseq.codonCoord=398;refseq.end=76669980;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1348;refseq.name=NM_000745;refseq.name2=CHRNA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D398N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-54;refseq.start=76669980;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr15 76681394 . G A 261.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.88;MQ0=0;OQ=4198.14;QD=20.89;RankSumP=0.428717;SB=-792.26;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.645C>T;refseq.codingCoordStr_2=c.645C>T;refseq.codonCoord_1=215;refseq.codonCoord_2=215;refseq.end_1=76681394;refseq.end_2=76681394;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1146;refseq.mrnaCoord_2=1146;refseq.name2_1=CHRNA3;refseq.name2_2=CHRNA3;refseq.name_1=NM_000743;refseq.name_2=NM_001166694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y215Y;refseq.proteinCoordStr_2=p.Y215Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=268;refseq.spliceDist_2=268;refseq.start_1=76681394;refseq.start_2=76681394;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr15 76696507 . T C 459.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=98.63;MQ0=0;OQ=7351.17;QD=41.07;RankSumP=1.00000;SB=-2497.35;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.291A>G;refseq.codingCoordStr_2=c.291A>G;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=76696507;refseq.end_2=76696507;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=792;refseq.name2_1=CHRNA3;refseq.name2_2=CHRNA3;refseq.name_1=NM_000743;refseq.name_2=NM_001166694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K97K;refseq.proteinCoordStr_2=p.K97K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=76696507;refseq.start_2=76696507;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr15 76698236 . T C 143.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=8.65;MQ=97.50;MQ0=0;OQ=2965.43;QD=13.73;RankSumP=0.489738;SB=-1219.90;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.159A>G;refseq.codingCoordStr_2=c.159A>G;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=76698236;refseq.end_2=76698236;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=660;refseq.name2_1=CHRNA3;refseq.name2_2=CHRNA3;refseq.name_1=NM_000743;refseq.name_2=NM_001166694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V53V;refseq.proteinCoordStr_2=p.V53V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=76698236;refseq.start_2=76698236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr15 76698268 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.127T>G;refseq.codingCoordStr_2=c.127T>G;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=76698268;refseq.end_2=76698268;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=628;refseq.name2_1=CHRNA3;refseq.name2_2=CHRNA3;refseq.name_1=NM_000743;refseq.name_2=NM_001166694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F43V;refseq.proteinCoordStr_2=p.F43V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=76698268;refseq.start_2=76698268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=FilteredInAll GT 0/1 chr15 76704643 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1384T>G;refseq.codonCoord=462;refseq.end=76704643;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_000750;refseq.name2=CHRNB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F462V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=46;refseq.start=76704643;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr15 76841955 . C G 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=31;Dels=0.00;HRun=4;HaplotypeScore=0.79;MQ=81.97;MQ0=3;OQ=1220.33;QD=39.37;RankSumP=1.00000;SB=-572.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4748G>C;refseq.codonCoord=1583;refseq.end=76841955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4959;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1583A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=76841955;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 76845068 . C T 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=37.17;MQ0=23;OQ=317.86;QD=7.57;RankSumP=1.00000;SB=-97.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4240G>A;refseq.codonCoord=1414;refseq.end=76845068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4451;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1414S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-27;refseq.start=76845068;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr15 76845234 . A G 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4074T>C;refseq.codonCoord=1358;refseq.end=76845234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4285;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1358G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-193;refseq.start=76845234;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 76845353 . T C 11 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=4.14;MQ0=103;OQ=50.28;QD=0.48;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3955A>G;refseq.codonCoord=1319;refseq.end=76845353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4166;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1319A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-312;refseq.start=76845353;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/1 chr15 76845372 rs12439672 C T 35.22 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=6.93;MQ0=93;QD=0.36;SB=-10.00;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3936G>A;refseq.codonCoord=1312;refseq.end=76845372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4147;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1312P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-331;refseq.start=76845372;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:73,26:6:-8.61,-1.81,-16.27:68.05 chr15 76845384 . A G 22 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=7.67;MQ=15.84;MQ0=101;QD=0.19;SB=-10.00;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3924T>C;refseq.codonCoord=1308;refseq.end=76845384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4135;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1308S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-343;refseq.start=76845384;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:107,6:11:-8.79,-3.31,-38.40:54.81 chr15 76845394 . A C 12.43 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=2;HaplotypeScore=10.65;MQ=17.11;MQ0=120;QD=0.09;SB=-10.00;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3914T>G;refseq.codonCoord=1305;refseq.end=76845394;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4125;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1305G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-353;refseq.start=76845394;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:110,25:14:-8.72,-4.22,-44.67:45.01 chr15 76845430 . A G 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=161;Dels=0.00;HRun=2;HaplotypeScore=6.17;MQ=21.22;MQ0=115;OQ=94.78;QD=0.59;RankSumP=0.148561;SB=-64.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3878T>C;refseq.codonCoord=1293;refseq.end=76845430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4089;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1293P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-389;refseq.start=76845430;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 0/1 chr15 76845433 . A G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=164;Dels=0.00;HRun=2;HaplotypeScore=10.02;MQ=22.76;MQ0=112;OQ=70.72;QD=0.43;RankSumP=0.378344;SB=-45.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3875T>C;refseq.codonCoord=1292;refseq.end=76845433;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4086;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1292P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-392;refseq.start=76845433;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr15 76845627 . T G 156.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=97.23;MQ0=0;OQ=2165.93;QD=30.08;RankSumP=1.00000;SB=-707.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3681A>C;refseq.codonCoord=1227;refseq.end=76845627;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3892;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1227R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-586;refseq.start=76845627;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr15 76845978 . G A 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=14;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=66.90;MQ0=3;OQ=99.79;QD=7.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3330C>T;refseq.codonCoord=1110;refseq.end=76845978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3541;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1110P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=471;refseq.start=76845978;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/1 chr15 76846006 . T C 106.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=28;Dels=0.04;HRun=0;HaplotypeScore=10.15;MQ=57.79;MQ0=4;OQ=403.72;QD=14.42;RankSumP=1.00000;SB=-192.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3302A>G;refseq.codonCoord=1101;refseq.end=76846006;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3513;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1101R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=443;refseq.start=76846006;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr15 76851135 . G A 98.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=76.90;MQ0=2;OQ=7831.11;QD=32.63;RankSumP=1.00000;SB=-3292.33;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2223C>T;refseq.codonCoord=741;refseq.end=76851135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2434;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S741S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=92;refseq.start=76851135;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr15 76851198 . C G 112.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=2.92;MQ=74.80;MQ0=19;OQ=5636.67;QD=33.96;RankSumP=1.00000;SB=-2449.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2160G>C;refseq.codonCoord=720;refseq.end=76851198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2371;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A720A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=29;refseq.start=76851198;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 76854110 . C T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=40.69;MQ=50.23;MQ0=37;OQ=540.38;QD=2.77;RankSumP=0.183954;SB=-98.08;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1787G>A;refseq.codonCoord=596;refseq.end=76854110;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1998;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R596H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=81;refseq.start=76854110;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr15 76854154 . G C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.373696;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1743C>G;refseq.codonCoord=581;refseq.end=76854154;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1954;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R581R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=37;refseq.start=76854154;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 0/1 chr15 76856176 . A G 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=63.43;MQ0=8;OQ=413.70;QD=18.80;RankSumP=1.00000;SB=-175.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1530T>C;refseq.codonCoord=510;refseq.end=76856176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1741;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A510A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-31;refseq.start=76856176;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 76876062 . T C 268.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.00;MQ0=0;OQ=4031.97;QD=40.32;RankSumP=1.00000;SB=-594.57;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.744A>G;refseq.codonCoord=248;refseq.end=76876062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V248V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-76;refseq.start=76876062;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr15 76876166 . A G 16.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=88.73;QD=22.18;RankSumP=1.00000;SB=-43.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.640T>C;refseq.codonCoord=214;refseq.end=76876166;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S214P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=18;refseq.start=76876166;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/1 chr15 76879805 . G C 109.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=92.67;MQ0=0;OQ=1164.57;QD=31.47;RankSumP=1.00000;SB=-543.60;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.240C>G;refseq.codonCoord=80;refseq.end=76879805;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_014272;refseq.name2=ADAMTS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A80A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=140;refseq.start=76879805;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr15 76973486 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=3.88652e-08;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.661A>G;refseq.codingCoordStr_2=c.778A>G;refseq.codonCoord_1=221;refseq.codonCoord_2=260;refseq.end_1=76973486;refseq.end_2=76973486;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=849;refseq.mrnaCoord_2=966;refseq.name2_1=MORF4L1;refseq.name2_2=MORF4L1;refseq.name_1=NM_006791;refseq.name_2=NM_206839;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I221V;refseq.proteinCoordStr_2=p.I260V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=76973486;refseq.start_2=76973486;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=FilteredInAll GT 0/1 chr15 76973527 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=360;Dels=0.00;HRun=1;HaplotypeScore=12.97;MQ=74.80;MQ0=31;OQ=6524.25;QD=18.12;RankSumP=0.185082;SB=-1863.75;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.702C>T;refseq.codingCoordStr_2=c.819C>T;refseq.codonCoord_1=234;refseq.codonCoord_2=273;refseq.end_1=76973527;refseq.end_2=76973527;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=890;refseq.mrnaCoord_2=1007;refseq.name2_1=MORF4L1;refseq.name2_2=MORF4L1;refseq.name_1=NM_006791;refseq.name_2=NM_206839;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L234L;refseq.proteinCoordStr_2=p.L273L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=76973527;refseq.start_2=76973527;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr15 77002465 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.857T>G;refseq.codingCoordStr_2=c.821T>G;refseq.codonCoord_1=286;refseq.codonCoord_2=274;refseq.end_1=77002465;refseq.end_2=77002465;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=954;refseq.mrnaCoord_2=918;refseq.name2_1=CTSH;refseq.name2_2=CTSH;refseq.name_1=NM_004390;refseq.name_2=NM_148979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V286G;refseq.proteinCoordStr_2=p.V274G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=77002465;refseq.start_2=77002465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr15 77004745 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.97;MQ0=0;OQ=6730.69;QD=45.48;RankSumP=1.00000;SB=-1360.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.792C>G;refseq.codingCoordStr_2=c.756C>G;refseq.codonCoord_1=264;refseq.codonCoord_2=252;refseq.end_1=77004745;refseq.end_2=77004745;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=853;refseq.name2_1=CTSH;refseq.name2_2=CTSH;refseq.name_1=NM_004390;refseq.name_2=NM_148979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T264T;refseq.proteinCoordStr_2=p.T252T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=77004745;refseq.start_2=77004745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr15 77024302 . C G 222.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=115.89;QD=38.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.77G>C;refseq.codingCoordStr_2=c.41G>C;refseq.codonCoord_1=26;refseq.codonCoord_2=14;refseq.end_1=77024302;refseq.end_2=77024302;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=174;refseq.mrnaCoord_2=138;refseq.name2_1=CTSH;refseq.name2_2=CTSH;refseq.name_1=NM_004390;refseq.name_2=NM_148979;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C26S;refseq.proteinCoordStr_2=p.C14S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-15;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=77024302;refseq.start_2=77024302;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=filterInsoap-gatk GT 1/1 chr15 77024379 . C A 119.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=92.80;MQ0=0;OQ=77.95;QD=19.49;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.-1G>T;refseq.codingCoordStr_2=c.-1G>T;refseq.end_1=77024379;refseq.end_2=77024379;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=97;refseq.mrnaCoord_2=97;refseq.name2_1=CTSH;refseq.name2_2=CTSH;refseq.name_1=NM_004390;refseq.name_2=NM_148979;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=-92;refseq.spliceDist_2=-32;refseq.start_1=77024379;refseq.start_2=77024379;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=filterInsoap-gatk GT 1/1 chr15 77064566 . A G 163.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=580;Dels=0.00;HRun=0;HaplotypeScore=11.08;MQ=98.82;MQ0=0;OQ=8706.33;QD=15.01;RankSumP=0.338134;SB=-1935.46;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3252T>C;refseq.codingCoordStr_2=c.3300T>C;refseq.codingCoordStr_3=c.948T>C;refseq.codonCoord_1=1084;refseq.codonCoord_2=1100;refseq.codonCoord_3=316;refseq.end_1=77064566;refseq.end_2=77064566;refseq.end_3=77064566;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3627;refseq.mrnaCoord_2=3675;refseq.mrnaCoord_3=2121;refseq.name2_1=RASGRF1;refseq.name2_2=RASGRF1;refseq.name2_3=RASGRF1;refseq.name_1=NM_001145648;refseq.name_2=NM_002891;refseq.name_3=NM_153815;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N1084N;refseq.proteinCoordStr_2=p.N1100N;refseq.proteinCoordStr_3=p.N316N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.start_1=77064566;refseq.start_2=77064566;refseq.start_3=77064566;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 0/1 chr15 77083227 . G A 160.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.63;MQ0=0;OQ=486.03;QD=17.36;RankSumP=0.158104;SB=-74.06;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2421C>T;refseq.codingCoordStr_2=c.2469C>T;refseq.codingCoordStr_3=c.117C>T;refseq.codonCoord_1=807;refseq.codonCoord_2=823;refseq.codonCoord_3=39;refseq.end_1=77083227;refseq.end_2=77083227;refseq.end_3=77083227;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2796;refseq.mrnaCoord_2=2844;refseq.mrnaCoord_3=1290;refseq.name2_1=RASGRF1;refseq.name2_2=RASGRF1;refseq.name2_3=RASGRF1;refseq.name_1=NM_001145648;refseq.name_2=NM_002891;refseq.name_3=NM_153815;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P807P;refseq.proteinCoordStr_2=p.P823P;refseq.proteinCoordStr_3=p.P39P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=77083227;refseq.start_2=77083227;refseq.start_3=77083227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr15 77393192 . G A 342.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=99.00;MQ0=0;OQ=8451.50;QD=39.49;RankSumP=1.00000;SB=-1212.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.207G>A;refseq.codonCoord=69;refseq.end=77393192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=308;refseq.name=NM_007364;refseq.name2=TMED3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=39;refseq.start=77393192;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr15 77401473 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=258;Dels=0.00;HRun=1;HaplotypeScore=18.88;MQ=98.57;MQ0=0;OQ=6836.52;QD=26.50;RankSumP=1.00000;SB=-2287.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.516A>G;refseq.codonCoord=172;refseq.end=77401473;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_007364;refseq.name2=TMED3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=99;refseq.start=77401473;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr15 77535628 . G A 123.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=326;Dels=0.00;HRun=1;HaplotypeScore=9.22;MQ=98.73;MQ0=0;OQ=6349.53;QD=19.48;RankSumP=0.473932;SB=-2009.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.84G>A;refseq.codonCoord=28;refseq.end=77535628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_015206;refseq.name2=KIAA1024;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q28Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=134;refseq.start=77535628;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr15 77536470 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.926A>C;refseq.codonCoord=309;refseq.end=77536470;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1001;refseq.name=NM_015206;refseq.name2=KIAA1024;refseq.positionType=CDS;refseq.proteinCoordStr=p.N309T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=976;refseq.start=77536470;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr15 77537182 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=8.47;MQ=98.70;MQ0=0;OQ=1737.71;QD=12.32;RankSumP=0.445844;SB=-773.47;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1638A>G;refseq.codonCoord=546;refseq.end=77537182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1713;refseq.name=NM_015206;refseq.name2=KIAA1024;refseq.positionType=CDS;refseq.proteinCoordStr=p.G546G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-661;refseq.start=77537182;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr15 77537362 . T C 410.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.71;MQ0=0;OQ=6037.13;QD=38.21;RankSumP=1.00000;SB=-2514.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1818T>C;refseq.codonCoord=606;refseq.end=77537362;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1893;refseq.name=NM_015206;refseq.name2=KIAA1024;refseq.positionType=CDS;refseq.proteinCoordStr=p.I606I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-481;refseq.start=77537362;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr15 77542659 . A G 295.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=380;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=97.82;MQ0=0;OQ=5906.95;QD=15.54;RankSumP=0.199174;SB=-1738.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2494A>G;refseq.codonCoord=832;refseq.end=77542659;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2569;refseq.name=NM_015206;refseq.name2=KIAA1024;refseq.positionType=CDS;refseq.proteinCoordStr=p.I832V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-60;refseq.start=77542659;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr15 77978398 . G A 352.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=8.03;MQ=98.29;MQ0=0;OQ=6457.65;QD=20.50;RankSumP=0.464044;SB=-2642.41;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.170C>T;refseq.codingCoordStr_2=c.170C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=77978398;refseq.end_2=77978398;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=850;refseq.mrnaCoord_2=465;refseq.name2_1=ST20;refseq.name2_2=ST20;refseq.name_1=NM_001100879;refseq.name_2=NM_001100880;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P57L;refseq.proteinCoordStr_2=p.P57L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=125;refseq.spliceDist_2=125;refseq.start_1=77978398;refseq.start_2=77978398;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr15 78050272 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=878;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.94;MQ0=0;OQ=14447.26;QD=16.45;RankSumP=0.399452;SB=-5388.19;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.245G>A;refseq.codingCoordStr_2=c.245G>A;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.end_1=78050272;refseq.end_2=78050272;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=427;refseq.mrnaCoord_2=427;refseq.name2_1=BCL2A1;refseq.name2_2=BCL2A1;refseq.name_1=NM_001114735;refseq.name_2=NM_004049;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G82D;refseq.proteinCoordStr_2=p.G82D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-176;refseq.spliceDist_2=-176;refseq.start_1=78050272;refseq.start_2=78050272;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr15 78050400 . A C 149.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=448;Dels=0.00;HRun=1;HaplotypeScore=6.38;MQ=98.93;MQ0=0;OQ=7692.97;QD=17.17;RankSumP=0.332570;SB=-2625.92;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.117T>G;refseq.codingCoordStr_2=c.117T>G;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=78050400;refseq.end_2=78050400;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=299;refseq.mrnaCoord_2=299;refseq.name2_1=BCL2A1;refseq.name2_2=BCL2A1;refseq.name_1=NM_001114735;refseq.name_2=NM_004049;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N39K;refseq.proteinCoordStr_2=p.N39K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=299;refseq.spliceDist_2=299;refseq.start_1=78050400;refseq.start_2=78050400;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr15 78050461 . C T 208.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=98.73;MQ0=0;OQ=3977.81;QD=14.57;RankSumP=0.263604;SB=-1549.97;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.56G>A;refseq.codingCoordStr_2=c.56G>A;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=78050461;refseq.end_2=78050461;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=238;refseq.mrnaCoord_2=238;refseq.name2_1=BCL2A1;refseq.name2_2=BCL2A1;refseq.name_1=NM_001114735;refseq.name_2=NM_004049;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C19Y;refseq.proteinCoordStr_2=p.C19Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=238;refseq.spliceDist_2=238;refseq.start_1=78050461;refseq.start_2=78050461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr15 78958123 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.101C>G;refseq.codonCoord=34;refseq.end=78958123;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_018689;refseq.name2=KIAA1199;refseq.positionType=CDS;refseq.proteinCoordStr=p.A34G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=78958123;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr15 78975458 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr15;refseq.codingCoordStr=c.1411+2;refseq.end=78975458;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018689;refseq.name2=KIAA1199;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=78975458;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr15 78999663 . G A 297.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=98.98;MQ0=0;OQ=16198.92;QD=41.86;RankSumP=1.00000;SB=-5945.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1971G>A;refseq.codonCoord=657;refseq.end=78999663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2231;refseq.name=NM_018689;refseq.name2=KIAA1199;refseq.positionType=CDS;refseq.proteinCoordStr=p.P657P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-33;refseq.start=78999663;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr15 79352576 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.766G>C;refseq.codingCoordStr_2=c.766G>C;refseq.codonCoord_1=256;refseq.codonCoord_2=256;refseq.end_1=79352576;refseq.end_2=79352576;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=867;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_172217;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A256P;refseq.proteinCoordStr_2=p.A256P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=79352576;refseq.start_2=79352576;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr15 79372118 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=1.91376e-06;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1587T>G;refseq.codingCoordStr_2=c.1587T>G;refseq.codonCoord_1=529;refseq.codonCoord_2=529;refseq.end_1=79372118;refseq.end_2=79372118;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1948;refseq.mrnaCoord_2=1688;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_172217;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S529R;refseq.proteinCoordStr_2=p.S529R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=167;refseq.spliceDist_2=167;refseq.start_1=79372118;refseq.start_2=79372118;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 1/0 chr15 79379715 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.2993T>G;refseq.codingCoordStr_2=c.890T>G;refseq.codingCoordStr_3=c.2993T>G;refseq.codonCoord_1=998;refseq.codonCoord_2=297;refseq.codonCoord_3=998;refseq.end_1=79379715;refseq.end_2=79379715;refseq.end_3=79379715;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3354;refseq.mrnaCoord_2=1106;refseq.mrnaCoord_3=3094;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name2_3=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_004513;refseq.name_3=NM_172217;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V998G;refseq.proteinCoordStr_2=p.V297G;refseq.proteinCoordStr_3=p.V998G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-157;refseq.spliceDist_2=-157;refseq.spliceDist_3=-157;refseq.start_1=79379715;refseq.start_2=79379715;refseq.start_3=79379715;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr15 79379857 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=3;HaplotypeScore=7.70;MQ=98.78;MQ0=0;OQ=5191.04;QD=20.36;RankSumP=0.203885;SB=-978.19;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3135A>G;refseq.codingCoordStr_2=c.1032A>G;refseq.codingCoordStr_3=c.3135A>G;refseq.codonCoord_1=1045;refseq.codonCoord_2=344;refseq.codonCoord_3=1045;refseq.end_1=79379857;refseq.end_2=79379857;refseq.end_3=79379857;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3496;refseq.mrnaCoord_2=1248;refseq.mrnaCoord_3=3236;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name2_3=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_004513;refseq.name_3=NM_172217;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1045T;refseq.proteinCoordStr_2=p.T344T;refseq.proteinCoordStr_3=p.T1045T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=79379857;refseq.start_2=79379857;refseq.start_3=79379857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chr15 79385324 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=446;Dels=0.00;HRun=3;HaplotypeScore=10.39;MQ=98.81;MQ0=0;OQ=8940.99;QD=20.05;RankSumP=0.293704;SB=-3320.36;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3441T>G;refseq.codingCoordStr_2=c.1338T>G;refseq.codingCoordStr_3=c.3441T>G;refseq.codonCoord_1=1147;refseq.codonCoord_2=446;refseq.codonCoord_3=1147;refseq.end_1=79385324;refseq.end_2=79385324;refseq.end_3=79385324;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3802;refseq.mrnaCoord_2=1554;refseq.mrnaCoord_3=3542;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name2_3=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_004513;refseq.name_3=NM_172217;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N1147K;refseq.proteinCoordStr_2=p.N446K;refseq.proteinCoordStr_3=p.N1147K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=79385324;refseq.start_2=79385324;refseq.start_3=79385324;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/0 chr15 79385471 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=2;HaplotypeScore=6.59;MQ=98.48;MQ0=0;OQ=2042.55;QD=15.13;RankSumP=0.359451;SB=-991.88;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3588G>A;refseq.codingCoordStr_2=c.1485G>A;refseq.codingCoordStr_3=c.3588G>A;refseq.codonCoord_1=1196;refseq.codonCoord_2=495;refseq.codonCoord_3=1196;refseq.end_1=79385471;refseq.end_2=79385471;refseq.end_3=79385471;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3949;refseq.mrnaCoord_2=1701;refseq.mrnaCoord_3=3689;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name2_3=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_004513;refseq.name_3=NM_172217;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R1196R;refseq.proteinCoordStr_2=p.R495R;refseq.proteinCoordStr_3=p.R1196R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.spliceDist_3=-92;refseq.start_1=79385471;refseq.start_2=79385471;refseq.start_3=79385471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr15 79388050 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=17.40;MQ=98.84;MQ0=0;OQ=18586.24;QD=40.94;RankSumP=1.00000;SB=-9067.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.3852A>G;refseq.codingCoordStr_2=c.1752A>G;refseq.codingCoordStr_3=c.3855A>G;refseq.codonCoord_1=1284;refseq.codonCoord_2=584;refseq.codonCoord_3=1285;refseq.end_1=79388050;refseq.end_2=79388050;refseq.end_3=79388050;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4213;refseq.mrnaCoord_2=1968;refseq.mrnaCoord_3=3956;refseq.name2_1=IL16;refseq.name2_2=IL16;refseq.name2_3=IL16;refseq.name_1=NM_001172128;refseq.name_2=NM_004513;refseq.name_3=NM_172217;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L1284L;refseq.proteinCoordStr_2=p.L584L;refseq.proteinCoordStr_3=p.L1285L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.referenceCodon_3=TTA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=79388050;refseq.start_2=79388050;refseq.start_3=79388050;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr15 80218200 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=510;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.93;MQ0=0;OQ=9422.89;QD=18.48;RankSumP=0.365666;SB=-3615.28;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2875G>A;refseq.codingCoordStr_2=c.3028G>A;refseq.codonCoord_1=959;refseq.codonCoord_2=1010;refseq.end_1=80218200;refseq.end_2=80218200;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3044;refseq.mrnaCoord_2=3197;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V959I;refseq.proteinCoordStr_2=p.V1010I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=80218200;refseq.start_2=80218200;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr15 80231209 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=277;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=98.70;MQ0=0;OQ=4124.27;QD=14.89;RankSumP=8.94913e-07;SB=-1576.24;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2488C>A;refseq.codingCoordStr_2=c.2641C>A;refseq.codonCoord_1=830;refseq.codonCoord_2=881;refseq.end_1=80231209;refseq.end_2=80231209;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2657;refseq.mrnaCoord_2=2810;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P830T;refseq.proteinCoordStr_2=p.P881T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-349;refseq.spliceDist_2=-349;refseq.start_1=80231209;refseq.start_2=80231209;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 0/1 chr15 80231492 . A G 448.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.93;MQ0=0;OQ=7783.21;QD=39.11;RankSumP=1.00000;SB=-2846.90;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2205T>C;refseq.codingCoordStr_2=c.2358T>C;refseq.codonCoord_1=735;refseq.codonCoord_2=786;refseq.end_1=80231492;refseq.end_2=80231492;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2374;refseq.mrnaCoord_2=2527;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G735G;refseq.proteinCoordStr_2=p.G786G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=328;refseq.spliceDist_2=328;refseq.start_1=80231492;refseq.start_2=80231492;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr15 80299145 . A G 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.217176;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1361T>C;refseq.codingCoordStr_2=c.1514T>C;refseq.codonCoord_1=454;refseq.codonCoord_2=505;refseq.end_1=80299145;refseq.end_2=80299145;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1530;refseq.mrnaCoord_2=1683;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F454S;refseq.proteinCoordStr_2=p.F505S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=80299145;refseq.start_2=80299145;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=soap GT 0/1 chr15 80299183 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.370109;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1323T>C;refseq.codingCoordStr_2=c.1476T>C;refseq.codonCoord_1=441;refseq.codonCoord_2=492;refseq.end_1=80299183;refseq.end_2=80299183;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1492;refseq.mrnaCoord_2=1645;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P441P;refseq.proteinCoordStr_2=p.P492P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=80299183;refseq.start_2=80299183;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr15 80299484 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=5.52;MQ=31.55;MQ0=209;OQ=1277.96;QD=4.08;RankSumP=0.000994358;SB=-578.24;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1281G>C;refseq.codingCoordStr_2=c.1434G>C;refseq.codonCoord_1=427;refseq.codonCoord_2=478;refseq.end_1=80299484;refseq.end_2=80299484;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1450;refseq.mrnaCoord_2=1603;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E427D;refseq.proteinCoordStr_2=p.E478D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=80299484;refseq.start_2=80299484;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=filterInsoap-gatk GT 1/0 chr15 80304617 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.691874;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1083A>G;refseq.codingCoordStr_2=c.1236A>G;refseq.codonCoord_1=361;refseq.codonCoord_2=412;refseq.end_1=80304617;refseq.end_2=80304617;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1252;refseq.mrnaCoord_2=1405;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I361M;refseq.proteinCoordStr_2=p.I412M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=80304617;refseq.start_2=80304617;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap GT 1/0 chr15 80304620 . A G 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.407626;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1080T>C;refseq.codingCoordStr_2=c.1233T>C;refseq.codonCoord_1=360;refseq.codonCoord_2=411;refseq.end_1=80304620;refseq.end_2=80304620;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1249;refseq.mrnaCoord_2=1402;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I360I;refseq.proteinCoordStr_2=p.I411I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=80304620;refseq.start_2=80304620;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr15 80307592 . A G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0924832;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.911T>C;refseq.codingCoordStr_2=c.1064T>C;refseq.codonCoord_1=304;refseq.codonCoord_2=355;refseq.end_1=80307592;refseq.end_2=80307592;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1080;refseq.mrnaCoord_2=1233;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V304A;refseq.proteinCoordStr_2=p.V355A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=80307592;refseq.start_2=80307592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap GT 0/1 chr15 80307602 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.273398;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.901T>C;refseq.codingCoordStr_2=c.1054T>C;refseq.codonCoord_1=301;refseq.codonCoord_2=352;refseq.end_1=80307602;refseq.end_2=80307602;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1223;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S301P;refseq.proteinCoordStr_2=p.S352P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=80307602;refseq.start_2=80307602;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr15 80307668 . G A 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.326715;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.835C>T;refseq.codingCoordStr_2=c.988C>T;refseq.codonCoord_1=279;refseq.codonCoord_2=330;refseq.end_1=80307668;refseq.end_2=80307668;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1004;refseq.mrnaCoord_2=1157;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R279W;refseq.proteinCoordStr_2=p.R330W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=80307668;refseq.start_2=80307668;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=soap GT 1/0 chr15 80317841 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.409003;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.440T>C;refseq.codingCoordStr_2=c.593T>C;refseq.codonCoord_1=147;refseq.codonCoord_2=198;refseq.end_1=80317841;refseq.end_2=80317841;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=609;refseq.mrnaCoord_2=762;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V147A;refseq.proteinCoordStr_2=p.V198A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=80317841;refseq.start_2=80317841;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 0/1 chr15 80338497 . C T 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.460029;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_2=c.146G>A;refseq.codonCoord_2=49;refseq.end_1=80341073;refseq.end_2=80338497;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=315;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R49H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-14;refseq.start_1=80320810;refseq.start_2=80338497;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=soap GT 0/1 chr15 80341086 . T C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.426879;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.89A>G;refseq.codingCoordStr_2=c.89A>G;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=80341086;refseq.end_2=80341086;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=258;refseq.mrnaCoord_2=258;refseq.name2_1=EFTUD1;refseq.name2_2=EFTUD1;refseq.name_1=NM_001040610;refseq.name_2=NM_024580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H30R;refseq.proteinCoordStr_2=p.H30R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=80341086;refseq.start_2=80341086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=soap GT 1/0 chr15 80342297 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.03;MQ0=0;OQ=340.56;QD=8.73;RankSumP=0.517772;SB=-86.90;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.22A>G;refseq.codonCoord=8;refseq.end=80342297;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=91;refseq.name=NM_001008226;refseq.name2=FAM154B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S8G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-32;refseq.start=80342297;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr15 80351046 . C T 198.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.76;MQ0=0;OQ=2510.66;QD=14.94;RankSumP=0.442012;SB=-602.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.101C>T;refseq.codonCoord=34;refseq.end=80351046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_001008226;refseq.name2=FAM154B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P34L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=48;refseq.start=80351046;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr15 80361934 . T C 271.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=65.54;MQ0=5;OQ=6322.42;QD=16.29;RankSumP=0.290471;SB=-2090.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.673T>C;refseq.codonCoord=225;refseq.end=80361934;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_001008226;refseq.name2=FAM154B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W225R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=420;refseq.start=80361934;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr15 81012306 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=718.90;QD=14.38;RankSumP=0.323187;SB=-247.63;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.1305A>G;refseq.codingCoordStr_2=c.1290A>G;refseq.codingCoordStr_3=c.1290A>G;refseq.codingCoordStr_4=c.1515A>G;refseq.codonCoord_1=435;refseq.codonCoord_2=430;refseq.codonCoord_3=430;refseq.codonCoord_4=505;refseq.end_1=81012306;refseq.end_2=81012306;refseq.end_3=81012306;refseq.end_4=81012306;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1530;refseq.mrnaCoord_2=1515;refseq.mrnaCoord_3=1616;refseq.mrnaCoord_4=1622;refseq.name2_1=CPEB1;refseq.name2_2=CPEB1;refseq.name2_3=CPEB1;refseq.name2_4=CPEB1;refseq.name_1=NM_001079533;refseq.name_2=NM_001079534;refseq.name_3=NM_001079535;refseq.name_4=NM_030594;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L435L;refseq.proteinCoordStr_2=p.L430L;refseq.proteinCoordStr_3=p.L430L;refseq.proteinCoordStr_4=p.L505L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=81012306;refseq.start_2=81012306;refseq.start_3=81012306;refseq.start_4=81012306;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/0 chr15 81021751 . C T 326.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.90;MQ=98.12;MQ0=0;OQ=3601.92;QD=37.91;RankSumP=1.00000;SB=-1488.38;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.558G>A;refseq.codingCoordStr_2=c.558G>A;refseq.codingCoordStr_3=c.558G>A;refseq.codingCoordStr_4=c.783G>A;refseq.codonCoord_1=186;refseq.codonCoord_2=186;refseq.codonCoord_3=186;refseq.codonCoord_4=261;refseq.end_1=81021751;refseq.end_2=81021751;refseq.end_3=81021751;refseq.end_4=81021751;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=783;refseq.mrnaCoord_2=783;refseq.mrnaCoord_3=884;refseq.mrnaCoord_4=890;refseq.name2_1=CPEB1;refseq.name2_2=CPEB1;refseq.name2_3=CPEB1;refseq.name2_4=CPEB1;refseq.name_1=NM_001079533;refseq.name_2=NM_001079534;refseq.name_3=NM_001079535;refseq.name_4=NM_030594;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P186P;refseq.proteinCoordStr_2=p.P186P;refseq.proteinCoordStr_3=p.P186P;refseq.proteinCoordStr_4=p.P261P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.spliceDist_3=-77;refseq.spliceDist_4=-77;refseq.start_1=81021751;refseq.start_2=81021751;refseq.start_3=81021751;refseq.start_4=81021751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/1 chr15 82279640 . A G 252.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=98.94;MQ0=0;OQ=2221.63;QD=15.01;RankSumP=0.274714;SB=-1032.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.437A>G;refseq.codonCoord=146;refseq.end=82279640;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H146R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=74;refseq.start=82279640;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr15 82330623 . C G 143.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.76;MQ0=0;OQ=7054.32;QD=49.68;RankSumP=1.00000;SB=-2161.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.868C>G;refseq.codonCoord=290;refseq.end=82330623;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1092;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L290V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=66;refseq.start=82330623;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr15 82372908 . T C 242.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=16.62;MQ=98.58;MQ0=0;OQ=7204.96;QD=16.56;RankSumP=0.0464043;SB=-2086.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1761T>C;refseq.codonCoord=587;refseq.end=82372908;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1985;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R587R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=61;refseq.start=82372908;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr15 82373128 . G T 195.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.49;MQ0=0;OQ=2801.00;QD=14.15;RankSumP=0.206416;SB=-1295.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1981G>T;refseq.codonCoord=661;refseq.end=82373128;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2205;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V661L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=82373128;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr15 82402371 . G C 203.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.84;MQ0=0;OQ=9225.62;QD=22.23;RankSumP=0.0380751;SB=-2167.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2137G>C;refseq.codonCoord=713;refseq.end=82402371;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2361;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G713R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=20;refseq.start=82402371;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr15 82430354 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=465;Dels=0.00;HRun=1;HaplotypeScore=3.67;MQ=98.73;MQ0=0;OQ=19226.83;QD=41.35;RankSumP=1.00000;SB=-8218.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2605C>T;refseq.codonCoord=869;refseq.end=82430354;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2829;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L869F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-40;refseq.start=82430354;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr15 82442189 . C A 248.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=8.43;MQ=98.70;MQ0=0;OQ=8680.64;QD=17.26;RankSumP=0.000683243;SB=-3393.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2805C>A;refseq.codonCoord=935;refseq.end=82442189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3029;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P935P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=161;refseq.start=82442189;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/0 chr15 82442294 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=19.56;MQ=98.93;MQ0=0;OQ=13166.72;QD=35.59;RankSumP=1.00000;SB=-6477.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2910T>C;refseq.codonCoord=970;refseq.end=82442294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3134;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H970H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=266;refseq.start=82442294;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr15 82497465 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=99.00;MQ0=0;OQ=985.81;QD=12.17;RankSumP=0.298032;SB=-251.48;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4979C>T;refseq.codonCoord=1660;refseq.end=82497465;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5203;refseq.name=NM_207517;refseq.name2=ADAMTSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1660I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=82497465;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr15 82950775 . G T 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=2;HaplotypeScore=5.06;MQ=98.74;MQ0=0;OQ=11832.37;QD=41.08;RankSumP=1.00000;SB=-4186.41;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_3=c.418G>T;refseq.codonCoord_3=140;refseq.end_1=82960533;refseq.end_2=82964826;refseq.end_3=82950775;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=644;refseq.name2_1=ZSCAN2;refseq.name2_2=ZSCAN2;refseq.name2_3=ZSCAN2;refseq.name_1=NM_001007072;refseq.name_2=NM_181877;refseq.name_3=NM_017894;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V140F;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTT;refseq.spliceDist_3=12;refseq.start_1=82948579;refseq.start_2=82948579;refseq.start_3=82950775;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Phe;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr15 82965002 . G C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=99;Dels=0.00;HRun=3;HaplotypeScore=1.29;MQ=98.63;MQ0=0;OQ=4462.28;QD=45.07;RankSumP=1.00000;SB=-1186.15;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.572G>C;refseq.codonCoord=191;refseq.end=82965002;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_181877;refseq.name2=ZSCAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S191T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=166;refseq.start=82965002;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr15 82999610 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=1015.98;QD=14.72;RankSumP=0.721424;SB=-193.69;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.365G>A;refseq.codingCoordStr_2=c.360G>A;refseq.codonCoord_1=122;refseq.codonCoord_2=120;refseq.end_1=82999610;refseq.end_2=82999610;refseq.frame_1=1;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=779;refseq.name2_1=NMB;refseq.name2_2=NMB;refseq.name_1=NM_021077;refseq.name_2=NM_205858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.*122*;refseq.proteinCoordStr_2=p.M120I;refseq.referenceAA_1=Stop;refseq.referenceAA_2=Met;refseq.referenceCodon_1=TGA;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=35;refseq.spliceDist_2=30;refseq.start_1=82999610;refseq.start_2=82999610;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Ile;refseq.variantCodon_1=TAA;refseq.variantCodon_2=ATA;set=Intersection GT 0/1 chr15 83001524 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=99.00;MQ0=0;OQ=494.00;QD=14.11;RankSumP=0.347128;SB=-38.93;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.217C>A;refseq.codingCoordStr_2=c.217C>A;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=83001524;refseq.end_2=83001524;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=636;refseq.mrnaCoord_2=636;refseq.name2_1=NMB;refseq.name2_2=NMB;refseq.name_1=NM_021077;refseq.name_2=NM_205858;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P73T;refseq.proteinCoordStr_2=p.P73T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=83001524;refseq.start_2=83001524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr15 83134957 . A G 206.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=542;Dels=0.00;HRun=0;HaplotypeScore=18.40;MQ=98.81;MQ0=0;OQ=9959.54;QD=18.38;RankSumP=0.305178;SB=-3389.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2238A>G;refseq.codonCoord=746;refseq.end=83134957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2574;refseq.name=NM_014630;refseq.name2=ZNF592;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q746Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=18;refseq.start=83134957;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr15 83142924 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2838A>C;refseq.codonCoord=946;refseq.end=83142924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3174;refseq.name=NM_014630;refseq.name2=ZNF592;refseq.positionType=CDS;refseq.proteinCoordStr=p.P946P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=102;refseq.start=83142924;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr15 83161105 . T C 99.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=97.15;MQ0=0;OQ=1308.82;QD=15.40;RankSumP=1.00000;SB=-34.92;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.24T>C;refseq.codonCoord=8;refseq.end=83161105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y8Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=191;refseq.start=83161105;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr15 83161117 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=7.89143e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.36A>C;refseq.codonCoord=12;refseq.end=83161117;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=203;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q12H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=203;refseq.start=83161117;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr15 83161158 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=83161158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=244;refseq.start=83161158;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 83184149 . C G 339.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.17;MQ=99.00;MQ0=0;OQ=1348.44;QD=37.46;RankSumP=1.00000;SB=-264.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1241C>G;refseq.codonCoord=414;refseq.end=83184149;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T414S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=213;refseq.start=83184149;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr15 83184644 . G A 301.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=99.00;MQ0=0;OQ=715.33;QD=35.77;RankSumP=1.00000;SB=-79.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1736G>A;refseq.codonCoord=579;refseq.end=83184644;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1903;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G579E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-524;refseq.start=83184644;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 83184843 . G A 370.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.29;MQ0=0;OQ=1935.95;QD=39.51;RankSumP=1.00000;SB=-613.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1935G>A;refseq.codonCoord=645;refseq.end=83184843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2102;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G645G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-325;refseq.start=83184843;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr15 83202263 . C T 258.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.46;MQ0=0;OQ=1024.47;QD=37.94;RankSumP=1.00000;SB=-512.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3896C>T;refseq.codonCoord=1299;refseq.end=83202263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4063;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1299L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-528;refseq.start=83202263;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr15 83202423 . T C 253.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=868.51;QD=39.48;RankSumP=1.00000;SB=-399.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4056T>C;refseq.codonCoord=1352;refseq.end=83202423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4223;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1352G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-368;refseq.start=83202423;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 83206999 . T C 90.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=98.60;MQ0=0;OQ=2929.89;QD=38.55;RankSumP=1.00000;SB=-1340.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4865T>C;refseq.codonCoord=1622;refseq.end=83206999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5032;refseq.name=NM_020778;refseq.name2=ALPK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1622P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=130;refseq.start=83206999;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr15 83233048 . G T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.699510;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.138G>T;refseq.codingCoordStr_2=c.138G>T;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=83233048;refseq.end_2=83233048;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=340;refseq.mrnaCoord_2=340;refseq.name2_1=SLC28A1;refseq.name2_2=SLC28A1;refseq.name_1=NM_004213;refseq.name_2=NM_201651;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E46D;refseq.proteinCoordStr_2=p.E46D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=83233048;refseq.start_2=83233048;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 0/1 chr15 83248435 . G A 322.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=463;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.77;MQ0=0;OQ=9418.83;QD=20.34;RankSumP=0.168470;SB=-3143.62;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.565G>A;refseq.codonCoord=189;refseq.end=83248435;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V189I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-39;refseq.start=83248435;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr15 83249879 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=13.11;MQ=98.75;MQ0=0;OQ=2251.00;QD=13.24;RankSumP=0.450633;SB=-103.47;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.709C>A;refseq.codonCoord=237;refseq.end=83249879;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q237K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=83249879;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr15 83265257 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.910A>C;refseq.codonCoord=304;refseq.end=83265257;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1112;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T304P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=34;refseq.start=83265257;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr15 83277445 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=584;Dels=0.00;HRun=2;HaplotypeScore=25.55;MQ=98.77;MQ0=0;OQ=10677.57;QD=18.28;RankSumP=0.278670;SB=-1454.85;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1149G>A;refseq.codonCoord=383;refseq.end=83277445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1351;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K383K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-66;refseq.start=83277445;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr15 83279414 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=351;Dels=0.00;HRun=3;HaplotypeScore=4.12;MQ=98.66;MQ0=0;OQ=13272.27;QD=37.81;RankSumP=1.00000;SB=-4809.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1368A>G;refseq.codonCoord=456;refseq.end=83279414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q456Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-16;refseq.start=83279414;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr15 83279733 . G A 102.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=452;Dels=0.00;HRun=1;HaplotypeScore=13.91;MQ=98.52;MQ0=0;OQ=8654.25;QD=19.15;RankSumP=0.313760;SB=-2065.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1561G>A;refseq.codonCoord=521;refseq.end=83279733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1763;refseq.name=NM_004213;refseq.name2=SLC28A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D521N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-21;refseq.start=83279733;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr15 83470456 . C T 180.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=99.00;MQ0=0;OQ=2657.80;QD=13.42;RankSumP=0.00336810;SB=-837.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2100C>T;refseq.codingCoordStr_2=c.1962C>T;refseq.codonCoord_1=700;refseq.codonCoord_2=654;refseq.end_1=83470456;refseq.end_2=83470456;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2289;refseq.mrnaCoord_2=2151;refseq.name2_1=PDE8A;refseq.name2_2=PDE8A;refseq.name_1=NM_002605;refseq.name_2=NM_173454;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N700N;refseq.proteinCoordStr_2=p.N654N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=83470456;refseq.start_2=83470456;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=filterInsoap-gatk GT 0/1 chr15 83923658 . T C 295.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.90;MQ0=0;OQ=3126.59;QD=17.09;RankSumP=0.0626897;SB=-1551.24;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1355T>C;refseq.codingCoordStr_2=c.1355T>C;refseq.codonCoord_1=452;refseq.codonCoord_2=452;refseq.end_1=83923658;refseq.end_2=83923658;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1525;refseq.mrnaCoord_2=1525;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M452T;refseq.proteinCoordStr_2=p.M452T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=494;refseq.spliceDist_2=494;refseq.start_1=83923658;refseq.start_2=83923658;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr15 83923783 . T C 198.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.44;MQ0=0;OQ=1501.86;QD=14.72;RankSumP=0.383198;SB=-766.22;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1480T>C;refseq.codingCoordStr_2=c.1480T>C;refseq.codonCoord_1=494;refseq.codonCoord_2=494;refseq.end_1=83923783;refseq.end_2=83923783;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1650;refseq.mrnaCoord_2=1650;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W494R;refseq.proteinCoordStr_2=p.W494R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=619;refseq.spliceDist_2=619;refseq.start_1=83923783;refseq.start_2=83923783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr15 83923920 . T C 162.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=8.76;MQ=98.90;MQ0=0;OQ=6990.31;QD=18.25;RankSumP=0.320227;SB=-2590.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1617T>C;refseq.codingCoordStr_2=c.1617T>C;refseq.codonCoord_1=539;refseq.codonCoord_2=539;refseq.end_1=83923920;refseq.end_2=83923920;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1787;refseq.mrnaCoord_2=1787;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A539A;refseq.proteinCoordStr_2=p.A539A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=756;refseq.spliceDist_2=756;refseq.start_1=83923920;refseq.start_2=83923920;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr15 83923974 . T C 236.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=98.88;MQ0=0;OQ=4178.77;QD=18.57;RankSumP=0.234969;SB=-1109.90;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1671T>C;refseq.codingCoordStr_2=c.1671T>C;refseq.codonCoord_1=557;refseq.codonCoord_2=557;refseq.end_1=83923974;refseq.end_2=83923974;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1841;refseq.mrnaCoord_2=1841;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N557N;refseq.proteinCoordStr_2=p.N557N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=810;refseq.spliceDist_2=810;refseq.start_1=83923974;refseq.start_2=83923974;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr15 83924023 . C T 124.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.74;MQ0=0;OQ=1724.68;QD=15.54;RankSumP=0.297076;SB=-689.12;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1720C>T;refseq.codingCoordStr_2=c.1720C>T;refseq.codonCoord_1=574;refseq.codonCoord_2=574;refseq.end_1=83924023;refseq.end_2=83924023;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1890;refseq.mrnaCoord_2=1890;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R574C;refseq.proteinCoordStr_2=p.R574C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=859;refseq.spliceDist_2=859;refseq.start_1=83924023;refseq.start_2=83924023;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr15 83924837 . T C 165.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=98.76;MQ0=0;OQ=1443.67;QD=13.12;RankSumP=0.0513540;SB=-688.82;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2534T>C;refseq.codingCoordStr_2=c.2534T>C;refseq.codonCoord_1=845;refseq.codonCoord_2=845;refseq.end_1=83924837;refseq.end_2=83924837;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2704;refseq.mrnaCoord_2=2704;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V845A;refseq.proteinCoordStr_2=p.V845A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-1506;refseq.spliceDist_2=-1506;refseq.start_1=83924837;refseq.start_2=83924837;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr15 83924928 . C T 169.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.81;MQ0=0;OQ=2656.59;QD=15.63;RankSumP=0.209768;SB=-920.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2625C>T;refseq.codingCoordStr_2=c.2625C>T;refseq.codonCoord_1=875;refseq.codonCoord_2=875;refseq.end_1=83924928;refseq.end_2=83924928;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2795;refseq.mrnaCoord_2=2795;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P875P;refseq.proteinCoordStr_2=p.P875P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-1415;refseq.spliceDist_2=-1415;refseq.start_1=83924928;refseq.start_2=83924928;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr15 83924992 . G A 299.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.85;MQ0=0;OQ=5465.04;QD=21.77;RankSumP=0.249962;SB=-2291.66;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2689G>A;refseq.codingCoordStr_2=c.2689G>A;refseq.codonCoord_1=897;refseq.codonCoord_2=897;refseq.end_1=83924992;refseq.end_2=83924992;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2859;refseq.mrnaCoord_2=2859;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V897M;refseq.proteinCoordStr_2=p.V897M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-1351;refseq.spliceDist_2=-1351;refseq.start_1=83924992;refseq.start_2=83924992;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr15 83925423 . C T 238.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=7.43;MQ=98.83;MQ0=0;OQ=2255.64;QD=14.94;RankSumP=0.00862935;SB=-772.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3120C>T;refseq.codingCoordStr_2=c.3120C>T;refseq.codonCoord_1=1040;refseq.codonCoord_2=1040;refseq.end_1=83925423;refseq.end_2=83925423;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3290;refseq.mrnaCoord_2=3290;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1040S;refseq.proteinCoordStr_2=p.S1040S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-920;refseq.spliceDist_2=-920;refseq.start_1=83925423;refseq.start_2=83925423;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=filterInsoap-gatk GT 0/1 chr15 83925487 . C G 240.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=2.84;MQ=98.84;MQ0=0;OQ=4500.38;QD=21.33;RankSumP=0.168453;SB=-1909.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3184C>G;refseq.codingCoordStr_2=c.3184C>G;refseq.codonCoord_1=1062;refseq.codonCoord_2=1062;refseq.end_1=83925487;refseq.end_2=83925487;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3354;refseq.mrnaCoord_2=3354;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1062A;refseq.proteinCoordStr_2=p.P1062A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-856;refseq.spliceDist_2=-856;refseq.start_1=83925487;refseq.start_2=83925487;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr15 83925559 . G A 251.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=4.59;MQ=98.88;MQ0=0;OQ=3922.26;QD=20.43;RankSumP=0.265273;SB=-1448.82;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3256G>A;refseq.codingCoordStr_2=c.3256G>A;refseq.codonCoord_1=1086;refseq.codonCoord_2=1086;refseq.end_1=83925559;refseq.end_2=83925559;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3426;refseq.mrnaCoord_2=3426;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1086N;refseq.proteinCoordStr_2=p.D1086N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-784;refseq.spliceDist_2=-784;refseq.start_1=83925559;refseq.start_2=83925559;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr15 83925950 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=98.82;MQ0=0;OQ=2562.34;QD=11.14;RankSumP=0.109539;SB=-1241.24;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3647T>C;refseq.codingCoordStr_2=c.3647T>C;refseq.codonCoord_1=1216;refseq.codonCoord_2=1216;refseq.end_1=83925950;refseq.end_2=83925950;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3817;refseq.mrnaCoord_2=3817;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1216T;refseq.proteinCoordStr_2=p.M1216T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-393;refseq.spliceDist_2=-393;refseq.start_1=83925950;refseq.start_2=83925950;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr15 83925972 . G A 122.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.84;MQ0=0;OQ=2729.00;QD=12.58;RankSumP=0.100592;SB=-1240.13;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3669G>A;refseq.codingCoordStr_2=c.3669G>A;refseq.codonCoord_1=1223;refseq.codonCoord_2=1223;refseq.end_1=83925972;refseq.end_2=83925972;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3839;refseq.mrnaCoord_2=3839;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1223R;refseq.proteinCoordStr_2=p.R1223R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-371;refseq.spliceDist_2=-371;refseq.start_1=83925972;refseq.start_2=83925972;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr15 83926035 . G A 216.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=7.05;MQ=98.80;MQ0=0;OQ=2476.28;QD=13.83;RankSumP=0.00340658;SB=-1117.52;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3732G>A;refseq.codingCoordStr_2=c.3732G>A;refseq.codonCoord_1=1244;refseq.codonCoord_2=1244;refseq.end_1=83926035;refseq.end_2=83926035;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3902;refseq.mrnaCoord_2=3902;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1244G;refseq.proteinCoordStr_2=p.G1244G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-308;refseq.spliceDist_2=-308;refseq.start_1=83926035;refseq.start_2=83926035;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=filterInsoap-gatk GT 1/0 chr15 83926308 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.79;MQ0=0;OQ=720.07;QD=15.65;RankSumP=0.725260;SB=-243.23;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.4005C>T;refseq.codingCoordStr_2=c.4005C>T;refseq.codonCoord_1=1335;refseq.codonCoord_2=1335;refseq.end_1=83926308;refseq.end_2=83926308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4175;refseq.mrnaCoord_2=4175;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1335I;refseq.proteinCoordStr_2=p.I1335I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=83926308;refseq.start_2=83926308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr15 83983674 . G A 136.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=237;Dels=0.00;HRun=2;HaplotypeScore=4.13;MQ=98.86;MQ0=0;OQ=5193.18;QD=21.91;RankSumP=0.411618;SB=-2015.15;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.4227G>A;refseq.codingCoordStr_2=c.4227G>A;refseq.codonCoord_1=1409;refseq.codonCoord_2=1409;refseq.end_1=83983674;refseq.end_2=83983674;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4397;refseq.mrnaCoord_2=4397;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K1409K;refseq.proteinCoordStr_2=p.K1409K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=83983674;refseq.start_2=83983674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr15 84085346 . C T 128.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.80;MQ0=0;OQ=1631.96;QD=17.36;RankSumP=0.272571;SB=-530.98;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.7686C>T;refseq.codingCoordStr_2=c.7674C>T;refseq.codingCoordStr_3=c.2409C>T;refseq.codonCoord_1=2562;refseq.codonCoord_2=2558;refseq.codonCoord_3=803;refseq.end_1=84085346;refseq.end_2=84085346;refseq.end_3=84085346;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=7856;refseq.mrnaCoord_2=7844;refseq.mrnaCoord_3=2635;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name2_3=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.name_3=NM_144767;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L2562L;refseq.proteinCoordStr_2=p.L2558L;refseq.proteinCoordStr_3=p.L803L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.start_1=84085346;refseq.start_2=84085346;refseq.start_3=84085346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 0/1 chr15 84087791 . C T 137.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=99.00;MQ0=0;OQ=5311.87;QD=24.14;RankSumP=0.00492113;SB=-2221.04;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.8135C>T;refseq.codingCoordStr_2=c.8123C>T;refseq.codingCoordStr_3=c.2858C>T;refseq.codonCoord_1=2712;refseq.codonCoord_2=2708;refseq.codonCoord_3=953;refseq.end_1=84087791;refseq.end_2=84087791;refseq.end_3=84087791;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8305;refseq.mrnaCoord_2=8293;refseq.mrnaCoord_3=3084;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name2_3=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.name_3=NM_144767;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P2712L;refseq.proteinCoordStr_2=p.P2708L;refseq.proteinCoordStr_3=p.P953L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.start_1=84087791;refseq.start_2=84087791;refseq.start_3=84087791;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=filterInsoap-gatk GT 0/1 chr15 84088039 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=42;Dels=0.00;HRun=2;HaplotypeScore=8.09;MQ=98.55;MQ0=0;OQ=111.90;QD=2.66;RankSumP=1.36591e-08;SB=38.15;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.8383A>C;refseq.codingCoordStr_2=c.8371A>C;refseq.codingCoordStr_3=c.3106A>C;refseq.codonCoord_1=2795;refseq.codonCoord_2=2791;refseq.codonCoord_3=1036;refseq.end_1=84088039;refseq.end_2=84088039;refseq.end_3=84088039;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=8553;refseq.mrnaCoord_2=8541;refseq.mrnaCoord_3=3332;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name2_3=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.name_3=NM_144767;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T2795P;refseq.proteinCoordStr_2=p.T2791P;refseq.proteinCoordStr_3=p.T1036P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.start_1=84088039;refseq.start_2=84088039;refseq.start_3=84088039;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr15 84088914 . C T 265.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=99.00;MQ0=0;OQ=1419.51;QD=16.32;RankSumP=0.127368;SB=-669.13;SecondBestBaseQ=30;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.*2C>T;refseq.codingCoordStr_2=c.*2C>T;refseq.codingCoordStr_3=c.*2C>T;refseq.end_1=84088914;refseq.end_2=84088914;refseq.end_3=84088914;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=8626;refseq.mrnaCoord_2=8614;refseq.mrnaCoord_3=3405;refseq.name2_1=AKAP13;refseq.name2_2=AKAP13;refseq.name2_3=AKAP13;refseq.name_1=NM_006738;refseq.name_2=NM_007200;refseq.name_3=NM_144767;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=84088914;refseq.start_2=84088914;refseq.start_3=84088914;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 0/1 chr15 84113846 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.200C>T;refseq.codonCoord=67;refseq.end=84113846;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_022480;refseq.name2=KLHL25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S67F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=210;refseq.start=84113846;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr15 86284862 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1712T>G;refseq.codingCoordStr_2=c.1712T>G;refseq.codonCoord_1=571;refseq.codonCoord_2=571;refseq.end_1=86284862;refseq.end_2=86284862;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1874;refseq.mrnaCoord_2=1874;refseq.name2_1=NTRK3;refseq.name2_2=NTRK3;refseq.name_1=NM_001012338;refseq.name_2=NM_002530;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V571G;refseq.proteinCoordStr_2=p.V571G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=86284862;refseq.start_2=86284862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr15 86377139 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.1538A>C;refseq.codingCoordStr_2=c.1538A>C;refseq.codingCoordStr_3=c.1538A>C;refseq.codonCoord_1=513;refseq.codonCoord_2=513;refseq.codonCoord_3=513;refseq.end_1=86377139;refseq.end_2=86377139;refseq.end_3=86377139;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1700;refseq.mrnaCoord_2=1700;refseq.mrnaCoord_3=1700;refseq.name2_1=NTRK3;refseq.name2_2=NTRK3;refseq.name2_3=NTRK3;refseq.name_1=NM_001007156;refseq.name_2=NM_001012338;refseq.name_3=NM_002530;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N513T;refseq.proteinCoordStr_2=p.N513T;refseq.proteinCoordStr_3=p.N513T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=86377139;refseq.start_2=86377139;refseq.start_3=86377139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr15 86480789 . G A 378.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=98.53;MQ0=0;OQ=8122.38;QD=41.65;RankSumP=1.00000;SB=-3948.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.678C>T;refseq.codingCoordStr_2=c.678C>T;refseq.codingCoordStr_3=c.678C>T;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.codonCoord_3=226;refseq.end_1=86480789;refseq.end_2=86480789;refseq.end_3=86480789;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=840;refseq.mrnaCoord_3=840;refseq.name2_1=NTRK3;refseq.name2_2=NTRK3;refseq.name2_3=NTRK3;refseq.name_1=NM_001007156;refseq.name_2=NM_001012338;refseq.name_3=NM_002530;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N226N;refseq.proteinCoordStr_2=p.N226N;refseq.proteinCoordStr_3=p.N226N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=86480789;refseq.start_2=86480789;refseq.start_3=86480789;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr15 86481688 . G A 178.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=99.01;MQ0=0;OQ=2859.12;QD=15.21;RankSumP=0.499491;SB=-1029.14;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.573C>T;refseq.codingCoordStr_2=c.573C>T;refseq.codingCoordStr_3=c.573C>T;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.end_1=86481688;refseq.end_2=86481688;refseq.end_3=86481688;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=735;refseq.mrnaCoord_3=735;refseq.name2_1=NTRK3;refseq.name2_2=NTRK3;refseq.name2_3=NTRK3;refseq.name_1=NM_001007156;refseq.name_2=NM_001012338;refseq.name_3=NM_002530;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N191N;refseq.proteinCoordStr_2=p.N191N;refseq.proteinCoordStr_3=p.N191N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=86481688;refseq.start_2=86481688;refseq.start_3=86481688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr15 86952348 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr15;refseq.end=86952348;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=7;refseq.name=NR_031590;refseq.name2=MIR1179;refseq.positionType=non_coding_exon;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=86952348;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chr15 86970618 . A G 165.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=389.04;QD=32.42;RankSumP=1.00000;SB=-198.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.174A>G;refseq.codonCoord=58;refseq.end=86970618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_022767;refseq.name2=AEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E58E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=238;refseq.start=86970618;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 86970862 . A G 264.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=506;Dels=0.00;HRun=0;HaplotypeScore=5.01;MQ=98.91;MQ0=0;OQ=19205.22;QD=37.95;RankSumP=1.00000;SB=-6409.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.418A>G;refseq.codonCoord=140;refseq.end=86970862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_022767;refseq.name2=AEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N140D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-123;refseq.start=86970862;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr15 86973562 . G C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=342;Dels=0.00;HRun=1;HaplotypeScore=15.88;MQ=98.49;MQ0=0;OQ=14788.39;QD=43.24;RankSumP=1.00000;SB=-6098.20;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.642G>C;refseq.codonCoord=214;refseq.end=86973562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_022767;refseq.name2=AEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T214T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-100;refseq.start=86973562;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr15 86974357 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=224;Dels=0.00;HRun=2;HaplotypeScore=91.89;MQ=98.08;MQ0=0;OQ=50.77;QD=0.23;RankSumP=0.00000;SB=408.22;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.806T>G;refseq.codonCoord=269;refseq.end=86974357;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_022767;refseq.name2=AEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V269G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=65;refseq.start=86974357;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 86974360 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.809A>G;refseq.codonCoord=270;refseq.end=86974360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_022767;refseq.name2=AEN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E270G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=68;refseq.start=86974360;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 86983600 . A G 326.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=93.38;MQ0=0;OQ=925.67;QD=38.57;RankSumP=1.00000;SB=-77.36;SecondBestBaseQ=0;refseq.chr=chr15;refseq.codingCoordStr=c.-2A>G;refseq.end=86983600;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=292;refseq.name=NM_002201;refseq.name2=ISG20;refseq.positionType=utr5;refseq.spliceDist=23;refseq.start=86983600;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr15 86996530 . A G 266.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.71;MQ0=0;OQ=4355.78;QD=39.24;RankSumP=1.00000;SB=-583.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.414A>G;refseq.codonCoord=138;refseq.end=86996530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_002201;refseq.name2=ISG20;refseq.positionType=CDS;refseq.proteinCoordStr=p.L138L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-16;refseq.start=86996530;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr15 87222331 . A G 165.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.30;MQ0=0;OQ=2078.55;QD=30.12;RankSumP=1.00000;SB=-769.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.957T>C;refseq.codonCoord=319;refseq.end=87222331;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_178232;refseq.name2=HAPLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=161;refseq.start=87222331;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 87222409 . G A 165.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.80;MQ0=0;OQ=1597.83;QD=19.49;RankSumP=0.324020;SB=-823.31;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.879C>T;refseq.codonCoord=293;refseq.end=87222409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_178232;refseq.name2=HAPLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I293I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=83;refseq.start=87222409;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr15 87223290 . C T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=97.93;MQ0=0;OQ=88.61;QD=3.41;RankSumP=0.750000;SB=-38.52;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=87223290;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_178232;refseq.name2=HAPLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P236P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-89;refseq.start=87223290;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr15 87225881 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.204G>C;refseq.codonCoord=68;refseq.end=87225881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_178232;refseq.name2=HAPLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L68L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=80;refseq.start=87225881;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr15 87231510 . C T 119.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=439.48;QD=15.15;RankSumP=0.306434;SB=-48.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=87231510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_178232;refseq.name2=HAPLN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P8P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=71;refseq.start=87231510;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr15 87251550 . C T 270.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=98.06;MQ0=0;OQ=9289.79;QD=37.76;RankSumP=1.00000;SB=-3467.09;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.267G>A;refseq.codingCoordStr_2=c.267G>A;refseq.codonCoord_1=89;refseq.codonCoord_2=89;refseq.end_1=87251550;refseq.end_2=87251550;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=380;refseq.mrnaCoord_2=380;refseq.name2_1=MFGE8;refseq.name2_2=MFGE8;refseq.name_1=NM_001114614;refseq.name_2=NM_005928;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S89S;refseq.proteinCoordStr_2=p.S89S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=87251550;refseq.start_2=87251550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr15 87251591 . G T 232.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=97.98;MQ0=0;OQ=10960.76;QD=34.69;RankSumP=1.00000;SB=-4979.78;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.226C>A;refseq.codingCoordStr_2=c.226C>A;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=87251591;refseq.end_2=87251591;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=339;refseq.mrnaCoord_2=339;refseq.name2_1=MFGE8;refseq.name2_2=MFGE8;refseq.name_1=NM_001114614;refseq.name_2=NM_005928;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L76M;refseq.proteinCoordStr_2=p.L76M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=87251591;refseq.start_2=87251591;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr15 87254143 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.89A>C;refseq.codingCoordStr_2=c.89A>C;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=87254143;refseq.end_2=87254143;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=202;refseq.mrnaCoord_2=202;refseq.name2_1=MFGE8;refseq.name2_2=MFGE8;refseq.name_1=NM_001114614;refseq.name_2=NM_005928;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N30T;refseq.proteinCoordStr_2=p.N30T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=87254143;refseq.start_2=87254143;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr15 87605047 . C T 309.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=98.84;MQ0=0;OQ=8464.04;QD=17.86;RankSumP=0.000408409;SB=-2902.65;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.257C>T;refseq.codingCoordStr_2=c.257C>T;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=87605047;refseq.end_2=87605047;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=347;refseq.mrnaCoord_2=347;refseq.name2_1=FANCI;refseq.name2_2=FANCI;refseq.name_1=NM_001113378;refseq.name_2=NM_018193;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A86V;refseq.proteinCoordStr_2=p.A86V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=87605047;refseq.start_2=87605047;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 0/1 chr15 87618444 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=20;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=300.87;QD=15.04;RankSumP=0.663908;SB=-49.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1017G>A;refseq.codingCoordStr_2=c.1017G>A;refseq.codonCoord_1=339;refseq.codonCoord_2=339;refseq.end_1=87618444;refseq.end_2=87618444;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1107;refseq.mrnaCoord_2=1107;refseq.name2_1=FANCI;refseq.name2_2=FANCI;refseq.name_1=NM_001113378;refseq.name_2=NM_018193;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K339K;refseq.proteinCoordStr_2=p.K339K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=87618444;refseq.start_2=87618444;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/0 chr15 87637232 . G C 194.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1816.03;QD=15.13;RankSumP=0.444516;SB=-840.26;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2225G>C;refseq.codingCoordStr_2=c.2225G>C;refseq.codonCoord_1=742;refseq.codonCoord_2=742;refseq.end_1=87637232;refseq.end_2=87637232;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2315;refseq.mrnaCoord_2=2315;refseq.name2_1=FANCI;refseq.name2_2=FANCI;refseq.name_1=NM_001113378;refseq.name_2=NM_018193;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C742S;refseq.proteinCoordStr_2=p.C742S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=87637232;refseq.start_2=87637232;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr15 87659606 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.84;MQ0=0;OQ=1901.72;QD=11.67;RankSumP=0.156658;SB=-574.21;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.3906T>C;refseq.codingCoordStr_2=c.3726T>C;refseq.codonCoord_1=1302;refseq.codonCoord_2=1242;refseq.end_1=87659606;refseq.end_2=87659606;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3996;refseq.mrnaCoord_2=3816;refseq.name2_1=FANCI;refseq.name2_2=FANCI;refseq.name_1=NM_001113378;refseq.name_2=NM_018193;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1302G;refseq.proteinCoordStr_2=p.G1242G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=87659606;refseq.start_2=87659606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr15 87663575 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2992T>G;refseq.codingCoordStr_2=c.2992T>G;refseq.codonCoord_1=998;refseq.codonCoord_2=998;refseq.end_1=87663575;refseq.end_2=87663575;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3262;refseq.mrnaCoord_2=3274;refseq.name2_1=POLG;refseq.name2_2=POLG;refseq.name_1=NM_001126131;refseq.name_2=NM_002693;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S998A;refseq.proteinCoordStr_2=p.S998A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=87663575;refseq.start_2=87663575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 0/1 chr15 87674383 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.788A>G;refseq.codingCoordStr_2=c.788A>G;refseq.codonCoord_1=263;refseq.codonCoord_2=263;refseq.end_1=87674383;refseq.end_2=87674383;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1058;refseq.mrnaCoord_2=1070;refseq.name2_1=POLG;refseq.name2_2=POLG;refseq.name_1=NM_001126131;refseq.name_2=NM_002693;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E263G;refseq.proteinCoordStr_2=p.E263G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=87674383;refseq.start_2=87674383;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr15 87939674 . C T 220.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.55;MQ0=0;OQ=14051.20;QD=41.82;RankSumP=1.00000;SB=-6767.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1728C>T;refseq.codonCoord=576;refseq.end=87939674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1728;refseq.name=NM_152259;refseq.name2=C15orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.C576C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=47;refseq.start=87939674;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 87951033 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2695T>C;refseq.codonCoord=899;refseq.end=87951033;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2695;refseq.name=NM_152259;refseq.name2=C15orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.S899P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-28;refseq.start=87951033;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 87969112 . C T 394.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.70;MQ0=0;OQ=11093.07;QD=41.55;RankSumP=1.00000;SB=-3757.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.4567C>T;refseq.codonCoord=1523;refseq.end=87969112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4567;refseq.name=NM_152259;refseq.name2=C15orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1523C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-910;refseq.start=87969112;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr15 87969697 . T A 306.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.88;MQ0=0;OQ=3627.78;QD=35.57;RankSumP=1.00000;SB=-181.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.5152T>A;refseq.codonCoord=1718;refseq.end=87969697;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5152;refseq.name=NM_152259;refseq.name2=C15orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1718T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-325;refseq.start=87969697;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr15 87971241 . C T 313.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.74;MQ0=0;OQ=4285.60;QD=41.61;RankSumP=1.00000;SB=-1511.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.5653C>T;refseq.codonCoord=1885;refseq.end=87971241;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5653;refseq.name=NM_152259;refseq.name2=C15orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1885C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=51;refseq.start=87971241;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr15 87977436 . T G 163.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=97.22;MQ0=0;OQ=1369.43;QD=38.04;RankSumP=1.00000;SB=-397.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2658A>C;refseq.codonCoord=886;refseq.end=87977436;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2735;refseq.name=NM_198525;refseq.name2=KIF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A886A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-61;refseq.start=87977436;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr15 87978081 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2432T>G;refseq.codonCoord=811;refseq.end=87978081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2509;refseq.name=NM_198525;refseq.name2=KIF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V811G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=87978081;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 87989396 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=62;Dels=0.00;HRun=0;HaplotypeScore=6.71;MQ=98.55;MQ0=0;OQ=508.88;QD=8.21;RankSumP=0.130683;SB=-193.19;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2043T>A;refseq.codonCoord=681;refseq.end=87989396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2120;refseq.name=NM_198525;refseq.name2=KIF7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V681V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=87989396;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr15 88011267 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=110;Dels=0.00;HRun=4;HaplotypeScore=4.38;MQ=98.82;MQ0=0;OQ=1577.92;QD=14.34;RankSumP=0.296560;SB=-621.80;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.1113T>C;refseq.codingCoordStr_2=c.1113T>C;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.end_1=88011267;refseq.end_2=88011267;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1223;refseq.mrnaCoord_2=1294;refseq.name2_1=PLIN1;refseq.name2_2=PLIN1;refseq.name_1=NM_001145311;refseq.name_2=NM_002666;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P371P;refseq.proteinCoordStr_2=p.P371P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.start_1=88011267;refseq.start_2=88011267;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr15 88014233 . G C 372.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.91;MQ0=0;OQ=2186.39;QD=35.84;RankSumP=1.00000;SB=-787.38;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.580C>G;refseq.codingCoordStr_2=c.580C>G;refseq.codonCoord_1=194;refseq.codonCoord_2=194;refseq.end_1=88014233;refseq.end_2=88014233;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=690;refseq.mrnaCoord_2=761;refseq.name2_1=PLIN1;refseq.name2_2=PLIN1;refseq.name_1=NM_001145311;refseq.name_2=NM_002666;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P194A;refseq.proteinCoordStr_2=p.P194A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=88014233;refseq.start_2=88014233;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr15 88049823 . A T 385.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1871.34;QD=38.19;RankSumP=1.00000;SB=-913.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.531A>T;refseq.codonCoord=177;refseq.end=88049823;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_020212;refseq.name2=WDR93;refseq.positionType=CDS;refseq.proteinCoordStr=p.G177G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-31;refseq.start=88049823;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr15 88094798 . G C 12.86 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.00;MQ0=0;QD=12.86;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.669C>G;refseq.codonCoord=223;refseq.end=88094798;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_018670;refseq.name2=MESP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F223L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-55;refseq.start=88094798;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr15 88095310 . C G 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.35;MQ0=0;OQ=111.44;QD=27.86;RankSumP=1.00000;SB=-59.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.157G>C;refseq.codonCoord=53;refseq.end=88095310;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_018670;refseq.name2=MESP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53P;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=235;refseq.start=88095310;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr15 88121150 . G A 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=50.14;QD=25.07;RankSumP=1.00000;SB=-49.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.558G>A;refseq.codonCoord=186;refseq.end=88121150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=558;refseq.name=NM_001039958;refseq.name2=MESP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q186Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-367;refseq.start=88121150;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=filterInsoap-gatk GT 1/1 chr15 88148787 . C T 318.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.06;MQ0=0;OQ=2530.12;QD=20.24;RankSumP=0.241443;SB=-1119.07;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.963G>A;refseq.codonCoord=321;refseq.end=88148787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1255;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T321T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-62;refseq.start=88148787;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr15 88148796 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=8.39;MQ=97.91;MQ0=0;OQ=2136.41;QD=16.06;RankSumP=0.0803992;SB=-877.62;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.954G>T;refseq.codonCoord=318;refseq.end=88148796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L318L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=57;refseq.start=88148796;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr15 88148818 . G A 329.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=98.26;MQ0=0;OQ=2348.15;QD=18.94;RankSumP=0.145010;SB=-1048.59;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.932C>T;refseq.codonCoord=311;refseq.end=88148818;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1224;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A311V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=35;refseq.start=88148818;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr15 88150301 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.518A>C;refseq.codonCoord=173;refseq.end=88150301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D173A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-97;refseq.start=88150301;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr15 88150465 . G A 129.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=98.20;MQ0=0;OQ=1630.41;QD=14.30;RankSumP=0.421007;SB=-827.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.354C>T;refseq.codonCoord=118;refseq.end=88150465;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D118D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-261;refseq.start=88150465;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr15 88150562 . C T 282.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=8.12;MQ=98.54;MQ0=0;OQ=4501.33;QD=22.97;RankSumP=0.466165;SB=-1948.19;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.257G>A;refseq.codonCoord=86;refseq.end=88150562;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_001150;refseq.name2=ANPEP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R86Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-358;refseq.start=88150562;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr15 88411811 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=38;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=96.22;MQ0=0;OQ=496.07;QD=13.05;RankSumP=0.100185;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.438C>A;refseq.codonCoord=146;refseq.end=88411811;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_198526;refseq.name2=ZNF710;refseq.positionType=CDS;refseq.proteinCoordStr=p.G146G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=466;refseq.start=88411811;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr15 88424056 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=808.16;QD=14.18;RankSumP=0.213594;SB=-29.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1986T>C;refseq.codonCoord=662;refseq.end=88424056;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_198526;refseq.name2=ZNF710;refseq.positionType=CDS;refseq.proteinCoordStr=p.N662N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=161;refseq.start=88424056;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr15 88585211 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.99;MQ0=0;OQ=6474.30;QD=38.77;RankSumP=1.00000;SB=-2438.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.67A>G;refseq.codonCoord=23;refseq.end=88585211;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_001013657;refseq.name2=C15orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.R23G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=76;refseq.start=88585211;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr15 88585254 . T C 343.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2972.33;QD=36.25;RankSumP=1.00000;SB=-821.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.110T>C;refseq.codonCoord=37;refseq.end=88585254;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_001013657;refseq.name2=C15orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.M37T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=119;refseq.start=88585254;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr15 88585934 . C A 246.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=7.21;MQ=98.95;MQ0=0;OQ=3186.07;QD=15.47;RankSumP=0.287189;SB=-682.39;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.790C>A;refseq.codonCoord=264;refseq.end=88585934;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_001013657;refseq.name2=C15orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.P264T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-383;refseq.start=88585934;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr15 88586064 . C T 349.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=8.27;MQ=98.69;MQ0=0;OQ=5422.68;QD=18.83;RankSumP=0.200297;SB=-1400.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.920C>T;refseq.codonCoord=307;refseq.end=88586064;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1099;refseq.name=NM_001013657;refseq.name2=C15orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.T307I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-253;refseq.start=88586064;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr15 88704315 . A G 161.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=0.86;MQ=98.79;MQ0=0;OQ=3915.49;QD=24.47;RankSumP=0.405385;SB=-1663.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.248A>G;refseq.codonCoord=83;refseq.end=88704315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_001004309;refseq.name2=ZNF774;refseq.positionType=CDS;refseq.proteinCoordStr=p.N83S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=37;refseq.start=88704315;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr15 88704506 . G A 366.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.79;MQ0=0;OQ=5327.53;QD=19.59;RankSumP=0.294858;SB=-1734.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.439G>A;refseq.codonCoord=147;refseq.end=88704506;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_001004309;refseq.name2=ZNF774;refseq.positionType=CDS;refseq.proteinCoordStr=p.V147I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=228;refseq.start=88704506;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr15 88811780 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=2;HaplotypeScore=18.57;MQ=98.77;MQ0=0;OQ=5317.28;QD=20.45;RankSumP=0.379932;SB=-2272.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2130T>C;refseq.codonCoord=710;refseq.end=88811780;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2231;refseq.name=NM_003870;refseq.name2=IQGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P710P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-49;refseq.start=88811780;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr15 88884357 . G A 212.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=8.10;MQ=98.82;MQ0=0;OQ=5953.42;QD=19.08;RankSumP=0.299640;SB=-1334.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.215G>A;refseq.codingCoordStr_2=c.215G>A;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=88884357;refseq.end_2=88884357;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=321;refseq.mrnaCoord_2=321;refseq.name2_1=CRTC3;refseq.name2_2=CRTC3;refseq.name_1=NM_001042574;refseq.name_2=NM_022769;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S72N;refseq.proteinCoordStr_2=p.S72N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=88884357;refseq.start_2=88884357;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr15 89220709 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.290A>G;refseq.codonCoord=97;refseq.end=89220709;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_002569;refseq.name2=FURIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E97G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=14;refseq.start=89220709;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr15 89225578 . G C 148.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=98.20;MQ0=0;OQ=8321.88;QD=46.23;RankSumP=1.00000;SB=-3768.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1851G>C;refseq.codonCoord=617;refseq.end=89225578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2067;refseq.name=NM_002569;refseq.name2=FURIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G617G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=59;refseq.start=89225578;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr15 89229294 . C T 288.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=6.25;MQ=98.92;MQ0=0;OQ=6065.07;QD=39.38;RankSumP=1.00000;SB=-2316.31;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.15C>T;refseq.codingCoordStr_2=c.15C>T;refseq.codingCoordStr_3=c.15C>T;refseq.codingCoordStr_4=c.15C>T;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.codonCoord_3=5;refseq.codonCoord_4=5;refseq.end_1=89229294;refseq.end_2=89229294;refseq.end_3=89229294;refseq.end_4=89229294;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=15;refseq.mrnaCoord_2=15;refseq.mrnaCoord_3=134;refseq.mrnaCoord_4=111;refseq.name2_1=FES;refseq.name2_2=FES;refseq.name2_3=FES;refseq.name2_4=FES;refseq.name_1=NM_001143783;refseq.name_2=NM_001143784;refseq.name_3=NM_001143785;refseq.name_4=NM_002005;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S5S;refseq.proteinCoordStr_2=p.S5S;refseq.proteinCoordStr_3=p.S5S;refseq.proteinCoordStr_4=p.S5S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=89229294;refseq.start_2=89229294;refseq.start_3=89229294;refseq.start_4=89229294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;set=Intersection GT 1/1 chr15 89231440 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=655;Dels=0.00;HRun=1;HaplotypeScore=11.67;MQ=98.32;MQ0=0;OQ=24322.82;QD=37.13;RankSumP=1.00000;SB=-10693.18;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.330T>C;refseq.codingCoordStr_2=c.504T>C;refseq.codingCoordStr_3=c.330T>C;refseq.codingCoordStr_4=c.504T>C;refseq.codonCoord_1=110;refseq.codonCoord_2=168;refseq.codonCoord_3=110;refseq.codonCoord_4=168;refseq.end_1=89231440;refseq.end_2=89231440;refseq.end_3=89231440;refseq.end_4=89231440;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=330;refseq.mrnaCoord_2=504;refseq.mrnaCoord_3=449;refseq.mrnaCoord_4=600;refseq.name2_1=FES;refseq.name2_2=FES;refseq.name2_3=FES;refseq.name2_4=FES;refseq.name_1=NM_001143783;refseq.name_2=NM_001143784;refseq.name_3=NM_001143785;refseq.name_4=NM_002005;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A110A;refseq.proteinCoordStr_2=p.A168A;refseq.proteinCoordStr_3=p.A110A;refseq.proteinCoordStr_4=p.A168A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.start_1=89231440;refseq.start_2=89231440;refseq.start_3=89231440;refseq.start_4=89231440;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr15 89250720 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.824A>G;refseq.codonCoord=275;refseq.end=89250720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_006122;refseq.name2=MAN2A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E275G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-12;refseq.start=89250720;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr15 89293956 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.2028+2;refseq.codingCoordStr_2=c.2073+2;refseq.end_1=89293956;refseq.end_2=89293956;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=UNC45A;refseq.name2_2=UNC45A;refseq.name_1=NM_001039675;refseq.name_2=NM_018671;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=89293956;refseq.start_2=89293956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr15 89325731 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.672+2;refseq.codingCoordStr_2=c.672+2;refseq.codingCoordStr_3=c.672+2;refseq.end_1=89325731;refseq.end_2=89325731;refseq.end_3=89325731;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=PRC1;refseq.name2_2=PRC1;refseq.name2_3=PRC1;refseq.name_1=NM_003981;refseq.name_2=NM_199413;refseq.name_3=NM_199414;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=89325731;refseq.start_2=89325731;refseq.start_3=89325731;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr15 89325845 . G T 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=16.34;MQ=98.92;MQ0=0;OQ=9508.13;QD=37.88;RankSumP=1.00000;SB=-4457.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_1=c.560C>A;refseq.codingCoordStr_2=c.560C>A;refseq.codingCoordStr_3=c.560C>A;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.codonCoord_3=187;refseq.end_1=89325845;refseq.end_2=89325845;refseq.end_3=89325845;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=717;refseq.mrnaCoord_2=717;refseq.mrnaCoord_3=717;refseq.name2_1=PRC1;refseq.name2_2=PRC1;refseq.name2_3=PRC1;refseq.name_1=NM_003981;refseq.name_2=NM_199413;refseq.name_3=NM_199414;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A187E;refseq.proteinCoordStr_2=p.A187E;refseq.proteinCoordStr_3=p.A187E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=89325845;refseq.start_2=89325845;refseq.start_3=89325845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr15 89349287 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr15;refseq.codingCoordStr=c.1170+2;refseq.end=89349287;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_018668;refseq.name2=VPS33B;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=89349287;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr15 89351711 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.595T>G;refseq.codonCoord=199;refseq.end=89351711;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_018668;refseq.name2=VPS33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C199G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=89351711;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr15 90260511 . G C 4 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.465G>C;refseq.codingCoordStr_2=c.465G>C;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.end_1=90260511;refseq.end_2=90260511;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=666;refseq.mrnaCoord_2=666;refseq.name2_1=SLCO3A1;refseq.name2_2=SLCO3A1;refseq.name_1=NM_001145044;refseq.name_2=NM_013272;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S155S;refseq.proteinCoordStr_2=p.S155S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-182;refseq.spliceDist_2=-182;refseq.start_1=90260511;refseq.start_2=90260511;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/1 chr15 90448649 . G C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=223;Dels=0.00;HRun=3;HaplotypeScore=3.78;MQ=98.19;MQ0=0;OQ=9207.47;QD=41.29;RankSumP=1.00000;SB=-3876.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.882G>C;refseq.codingCoordStr_2=c.882G>C;refseq.codonCoord_1=294;refseq.codonCoord_2=294;refseq.end_1=90448649;refseq.end_2=90448649;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1083;refseq.mrnaCoord_2=1083;refseq.name2_1=SLCO3A1;refseq.name2_2=SLCO3A1;refseq.name_1=NM_001145044;refseq.name_2=NM_013272;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E294D;refseq.proteinCoordStr_2=p.E294D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.start_1=90448649;refseq.start_2=90448649;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr15 90808508 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1017C>A;refseq.codonCoord=339;refseq.end=90808508;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_006011;refseq.name2=ST8SIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y339*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=175;refseq.start=90808508;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr15 91311607 . A G 411.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=7115.49;QD=42.35;RankSumP=1.00000;SB=-2862.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2049A>G;refseq.codonCoord=683;refseq.end=91311607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2624;refseq.name=NM_001271;refseq.name2=CHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E683E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=49;refseq.start=91311607;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr15 91322608 . A G 308.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=0;HaplotypeScore=6.69;MQ=98.53;MQ0=0;OQ=10163.94;QD=40.49;RankSumP=1.00000;SB=-3932.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2718A>G;refseq.codonCoord=906;refseq.end=91322608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3293;refseq.name=NM_001271;refseq.name2=CHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q906Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=91322608;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr15 91337201 . C T 240.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.82;MQ0=0;OQ=1360.96;QD=16.40;RankSumP=0.410659;SB=-568.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3564C>T;refseq.codonCoord=1188;refseq.end=91337201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4139;refseq.name=NM_001271;refseq.name2=CHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1188Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-32;refseq.start=91337201;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr15 91368868 . A C 341.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=10.05;MQ=98.91;MQ0=0;OQ=4309.06;QD=20.62;RankSumP=0.105544;SB=-1829.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.5416A>C;refseq.codonCoord=1806;refseq.end=91368868;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5991;refseq.name=NM_001271;refseq.name2=CHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1806R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=263;refseq.start=91368868;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr15 92702749 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.codingCoordStr_2=c.1205A>G;refseq.codingCoordStr_3=c.1205A>G;refseq.codonCoord_2=402;refseq.codonCoord_3=402;refseq.end_1=92702769;refseq.end_2=92702749;refseq.end_3=92702749;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1270;refseq.mrnaCoord_3=1270;refseq.name2_1=MCTP2;refseq.name2_2=MCTP2;refseq.name2_3=MCTP2;refseq.name_1=NM_001159644;refseq.name_2=NM_001159643;refseq.name_3=NM_018349;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E402G;refseq.proteinCoordStr_3=p.E402G;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=92700545;refseq.start_2=92702749;refseq.start_3=92702749;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chr15 96305104 . G C 7.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=56.85;QD=28.42;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.9G>C;refseq.codonCoord=3;refseq.end=96305104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_183376;refseq.name2=ARRDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=168;refseq.start=96305104;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr15 96305326 . C T 10.16 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.16;SB=-10.00;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=96305326;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_183376;refseq.name2=ARRDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A77A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-77;refseq.start=96305326;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.26,-0.30,-0.00:1.76 chr15 96314849 . T C 175.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.55;MQ0=0;OQ=4052.83;QD=20.16;RankSumP=0.164755;SB=-1147.10;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1072T>C;refseq.codonCoord=358;refseq.end=96314849;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1231;refseq.name=NM_183376;refseq.name2=ARRDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S358P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=27;refseq.start=96314849;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr15 97068495 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.276C>G;refseq.codonCoord=92;refseq.end=97068495;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_000875;refseq.name2=IGF1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=182;refseq.start=97068495;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr15 97532875 . A G 237.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=2792.72;QD=21.16;RankSumP=0.415380;SB=-836.91;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.chr_5=chr15;refseq.chr_6=chr15;refseq.chr_7=chr15;refseq.codingCoordStr_1=c.768T>C;refseq.codingCoordStr_2=c.768T>C;refseq.codingCoordStr_3=c.768T>C;refseq.codingCoordStr_4=c.768T>C;refseq.codingCoordStr_5=c.768T>C;refseq.codingCoordStr_6=c.768T>C;refseq.codingCoordStr_7=c.768T>C;refseq.codonCoord_1=256;refseq.codonCoord_2=256;refseq.codonCoord_3=256;refseq.codonCoord_4=256;refseq.codonCoord_5=256;refseq.codonCoord_6=256;refseq.codonCoord_7=256;refseq.end_1=97532875;refseq.end_2=97532875;refseq.end_3=97532875;refseq.end_4=97532875;refseq.end_5=97532875;refseq.end_6=97532875;refseq.end_7=97532875;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1545;refseq.mrnaCoord_2=1228;refseq.mrnaCoord_3=1177;refseq.mrnaCoord_4=1104;refseq.mrnaCoord_5=982;refseq.mrnaCoord_6=1423;refseq.mrnaCoord_7=1299;refseq.name2_1=TTC23;refseq.name2_2=TTC23;refseq.name2_3=TTC23;refseq.name2_4=TTC23;refseq.name2_5=TTC23;refseq.name2_6=TTC23;refseq.name2_7=TTC23;refseq.name_1=NM_001040655;refseq.name_2=NM_001040656;refseq.name_3=NM_001040657;refseq.name_4=NM_001040658;refseq.name_5=NM_001040659;refseq.name_6=NM_001040660;refseq.name_7=NM_022905;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L256L;refseq.proteinCoordStr_2=p.L256L;refseq.proteinCoordStr_3=p.L256L;refseq.proteinCoordStr_4=p.L256L;refseq.proteinCoordStr_5=p.L256L;refseq.proteinCoordStr_6=p.L256L;refseq.proteinCoordStr_7=p.L256L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.referenceCodon_4=CTT;refseq.referenceCodon_5=CTT;refseq.referenceCodon_6=CTT;refseq.referenceCodon_7=CTT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceDist_5=9;refseq.spliceDist_6=9;refseq.spliceDist_7=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.spliceInfo_5=splice-acceptor_9;refseq.spliceInfo_6=splice-acceptor_9;refseq.spliceInfo_7=splice-acceptor_9;refseq.start_1=97532875;refseq.start_2=97532875;refseq.start_3=97532875;refseq.start_4=97532875;refseq.start_5=97532875;refseq.start_6=97532875;refseq.start_7=97532875;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_5=CTC;refseq.variantCodon_6=CTC;refseq.variantCodon_7=CTC;set=Intersection GT 0/1 chr15 97691838 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=399;Dels=0.00;HRun=1;HaplotypeScore=12.24;MQ=98.99;MQ0=0;OQ=6249.15;QD=15.66;RankSumP=0.00490781;SB=-1056.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.573T>C;refseq.codonCoord=191;refseq.end=97691838;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_144598;refseq.name2=LRRC28;refseq.positionType=CDS;refseq.proteinCoordStr=p.R191R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-20;refseq.start=97691838;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/0 chr15 98087158 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.42;MQ0=0;OQ=819.00;QD=18.20;RankSumP=0.331332;SB=-263.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.587C>G;refseq.codonCoord=196;refseq.end=98087158;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_152449;refseq.name2=LYSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T196S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=302;refseq.start=98087158;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr15 98087203 . G C 113.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=98.58;MQ0=0;OQ=1340.41;QD=17.41;RankSumP=0.500000;SB=-450.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.542C>G;refseq.codonCoord=181;refseq.end=98087203;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_152449;refseq.name2=LYSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A181G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=257;refseq.start=98087203;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr15 98087260 . G A 271.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=7.37;MQ=97.66;MQ0=0;OQ=2728.04;QD=20.21;RankSumP=0.376758;SB=-757.36;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.485C>T;refseq.codonCoord=162;refseq.end=98087260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_152449;refseq.name2=LYSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A162V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=200;refseq.start=98087260;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr15 98087272 . G A 324.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=97.59;MQ0=0;OQ=3039.50;QD=19.12;RankSumP=0.0500155;SB=-1053.14;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=98087272;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_152449;refseq.name2=LYSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A158V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=188;refseq.start=98087272;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr15 98087319 . A G 182.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=4.22;MQ=97.77;MQ0=0;OQ=9554.52;QD=35.39;RankSumP=1.00000;SB=-4739.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=98087319;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=699;refseq.name=NM_152449;refseq.name2=LYSMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S142S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=141;refseq.start=98087319;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr15 98332137 . T C 251.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=9.74;MQ=97.47;MQ0=0;OQ=4520.46;QD=14.72;RankSumP=0.433292;SB=-1812.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.3281A>G;refseq.codonCoord=1094;refseq.end=98332137;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3360;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1094S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=154;refseq.start=98332137;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr15 98406600 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2576A>C;refseq.codonCoord=859;refseq.end=98406600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2655;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.H859P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-16;refseq.start=98406600;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 98454129 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2092A>C;refseq.codonCoord=698;refseq.end=98454129;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2171;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T698P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-46;refseq.start=98454129;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr15 98466771 . G A 178.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.88;MQ0=0;OQ=2356.44;QD=15.82;RankSumP=0.262996;SB=-799.67;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1962C>T;refseq.codonCoord=654;refseq.end=98466771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2041;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.D654D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-55;refseq.start=98466771;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr15 98489760 . T G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=24.05;MQ=97.01;MQ0=0;OQ=7547.25;QD=30.93;RankSumP=1.00000;SB=-1274.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1696A>C;refseq.codonCoord=566;refseq.end=98489760;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1775;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.R566R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-26;refseq.start=98489760;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr15 98510368 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=27.31;MQ=98.43;MQ0=0;OQ=7965.43;QD=14.40;RankSumP=0.384790;SB=-2842.44;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1445T>C;refseq.codonCoord=482;refseq.end=98510368;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.M482T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-29;refseq.start=98510368;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr15 98510476 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DP=221;Dels=0.00;HRun=0;HaplotypeScore=6.17;MQ=98.53;MQ0=0;OQ=6298.56;QD=28.50;RankSumP=1.00000;SB=-1991.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1337C>T;refseq.codonCoord=446;refseq.end=98510476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1416;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T446I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=15;refseq.start=98510476;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr15 98611886 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=4628.89;QD=20.85;RankSumP=0.450983;SB=-1735.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1053G>A;refseq.codonCoord=351;refseq.end=98611886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.K351K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=22;refseq.start=98611886;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr15 98619221 . G A 207.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=11.07;MQ=98.43;MQ0=0;OQ=9725.27;QD=34.00;RankSumP=1.00000;SB=-3902.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.1017C>T;refseq.codonCoord=339;refseq.end=98619221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1096;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A339A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-15;refseq.start=98619221;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr15 98638990 . G A 245.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.18;MQ0=0;OQ=2305.07;QD=21.95;RankSumP=0.277324;SB=-1140.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.756C>T;refseq.codonCoord=252;refseq.end=98638990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A252A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-34;refseq.start=98638990;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr15 98639099 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=97.16;MQ0=0;OQ=728.63;QD=22.08;RankSumP=0.448682;SB=-237.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.647C>T;refseq.codonCoord=216;refseq.end=98639099;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=726;refseq.name=NM_139057;refseq.name2=ADAMTS17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S216L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=31;refseq.start=98639099;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr15 98760485 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=3;HaplotypeScore=1.75;MQ=98.84;MQ0=0;OQ=8370.25;QD=36.39;RankSumP=1.00000;SB=-4079.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1108A>G;refseq.codonCoord=370;refseq.end=98760485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1532;refseq.name=NM_178842;refseq.name2=LASS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R370G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=109;refseq.start=98760485;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr15 98859419 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=31.26;MQ=98.77;MQ0=0;OQ=6131.20;QD=21.29;RankSumP=0.00513563;SB=-2458.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.159A>G;refseq.codonCoord=53;refseq.end=98859419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_178842;refseq.name2=LASS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R53R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-15;refseq.start=98859419;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/0 chr15 98931385 . C T 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=3291.40;QD=42.20;RankSumP=1.00000;SB=-407.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.chr_3=chr15;refseq.chr_4=chr15;refseq.codingCoordStr_1=c.1216G>A;refseq.codingCoordStr_2=c.1216G>A;refseq.codingCoordStr_3=c.1216G>A;refseq.codingCoordStr_4=c.1216G>A;refseq.codonCoord_1=406;refseq.codonCoord_2=406;refseq.codonCoord_3=406;refseq.codonCoord_4=406;refseq.end_1=98931385;refseq.end_2=98931385;refseq.end_3=98931385;refseq.end_4=98931385;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1507;refseq.mrnaCoord_2=1402;refseq.mrnaCoord_3=1398;refseq.mrnaCoord_4=1511;refseq.name2_1=LINS1;refseq.name2_2=LINS1;refseq.name2_3=LINS1;refseq.name2_4=LINS1;refseq.name_1=NM_001040614;refseq.name_2=NM_001040615;refseq.name_3=NM_001040616;refseq.name_4=NM_018148;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V406M;refseq.proteinCoordStr_2=p.V406M;refseq.proteinCoordStr_3=p.V406M;refseq.proteinCoordStr_4=p.V406M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceDist_4=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.spliceInfo_4=splice-donor_-7;refseq.start_1=98931385;refseq.start_2=98931385;refseq.start_3=98931385;refseq.start_4=98931385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/1 chr15 99282438 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=5.77;MQ=98.52;MQ0=0;OQ=2851.26;QD=10.41;RankSumP=0.00226113;SB=-994.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.78T>C;refseq.codonCoord=26;refseq.end=99282438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R26R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-20;refseq.start=99282438;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/0 chr15 99380316 . G A 191.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=98.35;MQ0=0;OQ=1241.89;QD=35.48;RankSumP=1.00000;SB=-196.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2058G>A;refseq.codonCoord=686;refseq.end=99380316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2377;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S686S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=99380316;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr15 99409446 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=8.22;MQ=95.48;MQ0=0;OQ=2604.88;QD=9.01;RankSumP=0.385264;SB=-976.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.3447A>G;refseq.codonCoord=1149;refseq.end=99409446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3766;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1149T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=99409446;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr15 99415723 . G A 249.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=98.82;MQ0=0;OQ=6278.77;QD=18.15;RankSumP=0.391799;SB=-2283.78;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4533G>A;refseq.codonCoord=1511;refseq.end=99415723;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4852;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1511P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=99415723;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr15 99415837 . C T 189.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=98.80;MQ0=0;OQ=2583.04;QD=16.88;RankSumP=0.423786;SB=-864.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.4647C>T;refseq.codonCoord=1549;refseq.end=99415837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4966;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1549T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-33;refseq.start=99415837;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr15 99424412 . G A 120.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=98.39;MQ0=0;OQ=2397.50;QD=13.70;RankSumP=0.149352;SB=-1088.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.5813G>A;refseq.codonCoord=1938;refseq.end=99424412;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6132;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1938D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=45;refseq.start=99424412;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr15 99424413 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=98.40;MQ0=0;OQ=2162.97;QD=12.22;RankSumP=0.400558;SB=-1028.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.5814C>A;refseq.codonCoord=1938;refseq.end=99424413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6133;refseq.name=NM_024652;refseq.name2=LRRK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1938G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=46;refseq.start=99424413;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr15 99535177 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.2348A>G;refseq.codonCoord=783;refseq.end=99535177;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2824;refseq.name=NM_014918;refseq.name2=CHSY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E783G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1532;refseq.start=99535177;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr15 99535203 . G T 331.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.88;MQ0=0;OQ=4368.22;QD=19.24;RankSumP=0.0375396;SB=-1653.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr15;refseq.codingCoordStr=c.2322C>A;refseq.codonCoord=774;refseq.end=99535203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2798;refseq.name=NM_014918;refseq.name2=CHSY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T774T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1506;refseq.start=99535203;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr15 99536450 . G A 277.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.95;MQ0=0;OQ=2758.23;QD=16.52;RankSumP=0.0264505;SB=-1192.59;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.1075C>T;refseq.codonCoord=359;refseq.end=99536450;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1551;refseq.name=NM_014918;refseq.name2=CHSY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P359S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=259;refseq.start=99536450;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr15 100010071 . A C 76.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.19;MQ0=0;OQ=1529.18;QD=28.85;RankSumP=1.00000;SB=-547.96;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr15;refseq.chr_2=chr15;refseq.codingCoordStr_1=c.17T>G;refseq.codingCoordStr_2=c.17T>G;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=100010071;refseq.end_2=100010071;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=47;refseq.mrnaCoord_2=47;refseq.name2_1=TM2D3;refseq.name2_2=TM2D3;refseq.name_1=NM_025141;refseq.name_2=NM_078474;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L6R;refseq.proteinCoordStr_2=p.L6R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=100010071;refseq.start_2=100010071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr15 100081827 . G C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=6;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=92.57;MQ0=0;OQ=96.53;QD=16.09;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.287C>G;refseq.codonCoord=96;refseq.end=100081827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_152334;refseq.name2=TARSL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A96G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-11;refseq.start=100081827;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr15 100081999 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=87.57;MQ0=0;OQ=367.50;QD=14.13;RankSumP=0.341477;SB=-141.78;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.115G>T;refseq.codonCoord=39;refseq.end=100081999;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_152334;refseq.name2=TARSL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A39S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=170;refseq.start=100081999;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr15 100279908 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.0189569;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.878G>A;refseq.codonCoord=293;refseq.end=100279908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=878;refseq.name=NM_001004195;refseq.name2=OR4F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R293Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-41;refseq.start=100279908;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr15 100280125 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.314662;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.661T>C;refseq.codonCoord=221;refseq.end=100280125;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_001004195;refseq.name2=OR4F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C221R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-258;refseq.start=100280125;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr15 100280448 . A C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.338T>G;refseq.codonCoord=113;refseq.end=100280448;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_001004195;refseq.name2=OR4F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F113C;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=338;refseq.start=100280448;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr15 100280742 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.351808;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr15;refseq.codingCoordStr=c.44A>G;refseq.codonCoord=15;refseq.end=100280742;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=44;refseq.name=NM_001004195;refseq.name2=OR4F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E15G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=44;refseq.start=100280742;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 1/0 chr15 100318277 . C A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.400000;SecondBestBaseQ=34;set=soap GT 1/0 chr15 100318312 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=635;Dels=0.00;HRun=1;HaplotypeScore=16.44;MQ=1.26;MQ0=633;OQ=51.02;QD=0.08;RankSumP=0.373829;SB=-10.00;SecondBestBaseQ=31;set=Intersection GT 1/0 chr16 43517 . A C 277.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=97.08;MQ0=0;OQ=7572.08;QD=33.80;RankSumP=1.00000;SB=-2290.03;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.70T>G;refseq.codonCoord=24;refseq.end=43517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=109;refseq.name=NM_016310;refseq.name2=POLR3K;refseq.positionType=CDS;refseq.proteinCoordStr=p.S24A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-42;refseq.start=43517;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr16 48585 . T C 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.03;MQ0=1;OQ=4980.91;QD=37.45;RankSumP=1.00000;SB=-2422.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2322A>G;refseq.codonCoord=774;refseq.end=48585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2465;refseq.name=NM_022450;refseq.name2=RHBDF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S774S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=174;refseq.start=48585;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr16 48991 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2129T>C;refseq.codonCoord=710;refseq.end=48991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2272;refseq.name=NM_022450;refseq.name2=RHBDF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F710S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-20;refseq.start=48991;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr16 244515 . C T 333.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=10.70;MQ=98.54;MQ0=0;OQ=4615.63;QD=18.17;RankSumP=0.289869;SB=-1457.49;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.102C>T;refseq.codonCoord=34;refseq.end=244515;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=297;refseq.name=NM_032039;refseq.name2=ITFG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N34N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=135;refseq.start=244515;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr16 254656 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1387A>C;refseq.codonCoord=463;refseq.end=254656;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1582;refseq.name=NM_032039;refseq.name2=ITFG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T463P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=43;refseq.start=254656;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 260584 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.91;MQ0=0;OQ=422.46;QD=13.20;RankSumP=0.434542;SB=-214.73;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1082G>A;refseq.codingCoordStr_2=c.1145G>A;refseq.codonCoord_1=361;refseq.codonCoord_2=382;refseq.end_1=260584;refseq.end_2=260584;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1159;refseq.mrnaCoord_2=1148;refseq.name2_1=RGS11;refseq.name2_2=RGS11;refseq.name_1=NM_003834;refseq.name_2=NM_183337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R361H;refseq.proteinCoordStr_2=p.R382H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=260584;refseq.start_2=260584;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr16 260630 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.91;MQ0=0;OQ=508.25;QD=15.40;RankSumP=0.132243;SB=-222.25;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1036G>A;refseq.codingCoordStr_2=c.1099G>A;refseq.codonCoord_1=346;refseq.codonCoord_2=367;refseq.end_1=260630;refseq.end_2=260630;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1102;refseq.name2_1=RGS11;refseq.name2_2=RGS11;refseq.name_1=NM_003834;refseq.name_2=NM_183337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V346I;refseq.proteinCoordStr_2=p.V367I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=260630;refseq.start_2=260630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr16 274544 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=2053.71;QD=23.88;RankSumP=0.0334726;SB=-1012.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.356C>G;refseq.codonCoord=119;refseq.end=274544;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_006849;refseq.name2=PDIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T119R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-51;refseq.start=274544;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr16 274581 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=82;Dels=0.00;HRun=3;HaplotypeScore=4.68;MQ=98.45;MQ0=0;OQ=1379.05;QD=16.82;RankSumP=0.348195;SB=-585.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.393G>C;refseq.codonCoord=131;refseq.end=274581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_006849;refseq.name2=PDIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P131P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-14;refseq.start=274581;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr16 274733 . C T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=12;Dels=0.08;HRun=0;HaplotypeScore=9.82;MQ=89.67;MQ0=0;OQ=82.11;QD=6.84;RankSumP=0.0818182;SB=-3.98;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.480C>T;refseq.codonCoord=160;refseq.end=274733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_006849;refseq.name2=PDIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D160D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-61;refseq.start=274733;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 276422 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=162;Dels=0.00;HRun=2;HaplotypeScore=7.91;MQ=98.70;MQ0=0;OQ=3816.16;QD=23.56;RankSumP=0.348519;SB=-1639.12;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=276422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_006849;refseq.name2=PDIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K396K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-53;refseq.start=276422;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr16 276661 . G A 173.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.64;MQ0=0;OQ=2026.30;QD=15.12;RankSumP=0.487930;SB=-984.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1347G>A;refseq.codonCoord=449;refseq.end=276661;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_006849;refseq.name2=PDIA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T449T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-76;refseq.start=276661;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 281192 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.309677;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.2293G>T;refseq.codonCoord_2=765;refseq.end_1=283478;refseq.end_2=281192;refseq.frame_2=0;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2470;refseq.name2_1=AXIN1;refseq.name2_2=AXIN1;refseq.name_1=NM_181050;refseq.name_2=NM_003502;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E765*;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=279619;refseq.start_2=281192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Stop;refseq.variantCodon_2=TAG;set=FilteredInAll GT 1/0 chr16 336265 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=615;Dels=0.00;HRun=0;HaplotypeScore=28.91;MQ=98.75;MQ0=0;OQ=9909.03;QD=16.11;RankSumP=0.337906;SB=-3843.31;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.762T>C;refseq.codingCoordStr_2=c.762T>C;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.end_1=336265;refseq.end_2=336265;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=939;refseq.name2_1=AXIN1;refseq.name2_2=AXIN1;refseq.name_1=NM_003502;refseq.name_2=NM_181050;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D254D;refseq.proteinCoordStr_2=p.D254D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-117;refseq.spliceDist_2=-117;refseq.start_1=336265;refseq.start_2=336265;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr16 359093 . A G 333.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=7.37;MQ=98.45;MQ0=0;OQ=4297.55;QD=16.85;RankSumP=0.427645;SB=-1377.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.417T>C;refseq.codonCoord=139;refseq.end=359093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_006428;refseq.name2=MRPL28;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y139Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-25;refseq.start=359093;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr16 359155 . G A 212.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=352;Dels=0.00;HRun=1;HaplotypeScore=8.17;MQ=98.11;MQ0=0;OQ=7107.58;QD=20.19;RankSumP=0.434878;SB=-2356.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.355C>T;refseq.codonCoord=119;refseq.end=359155;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_006428;refseq.name2=MRPL28;refseq.positionType=CDS;refseq.proteinCoordStr=p.L119L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=67;refseq.start=359155;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 360141 . G A 149.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=361.98;QD=15.74;RankSumP=0.287146;SB=-109.60;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.79C>T;refseq.codonCoord=27;refseq.end=360141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=128;refseq.name=NM_006428;refseq.name2=MRPL28;refseq.positionType=CDS;refseq.proteinCoordStr=p.H27Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=86;refseq.start=360141;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr16 360180 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=97.69;MQ0=0;OQ=838.05;QD=19.49;RankSumP=0.611173;SB=-354.36;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.40C>T;refseq.codonCoord=14;refseq.end=360180;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=89;refseq.name=NM_006428;refseq.name2=MRPL28;refseq.positionType=CDS;refseq.proteinCoordStr=p.L14L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=47;refseq.start=360180;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 362046 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2258T>C;refseq.codonCoord=753;refseq.end=362046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2387;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F753S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=239;refseq.start=362046;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr16 366330 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=208;Dels=0.00;HRun=3;HaplotypeScore=29.42;MQ=97.18;MQ0=0;OQ=693.17;QD=3.33;RankSumP=5.36225e-08;SB=137.35;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1031T>G;refseq.codonCoord=344;refseq.end=366330;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V344G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=127;refseq.start=366330;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 366433 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.66;MQ0=0;OQ=697.78;QD=7.67;RankSumP=0.170389;SB=-240.91;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.928A>G;refseq.codonCoord=310;refseq.end=366433;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I310V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=24;refseq.start=366433;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr16 367480 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.24;MQ0=0;OQ=560.53;QD=14.01;RankSumP=0.506624;SB=-298.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.406A>G;refseq.codonCoord=136;refseq.end=367480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T136A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-102;refseq.start=367480;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr16 367517 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=98.97;MQ0=0;OQ=393.09;QD=13.55;RankSumP=0.523849;SB=-193.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.369A>G;refseq.codonCoord=123;refseq.end=367517;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V123V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=70;refseq.start=367517;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 367683 . C T 10.64 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=95.74;MQ0=0;QD=0.51;SB=-30.60;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.288G>A;refseq.codonCoord=96;refseq.end=367683;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A96A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=367683;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:19,2:15:-8.83,-4.52,-47.28:43.09 chr16 367785 . G A 133.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.52;MQ0=0;OQ=298.80;QD=14.94;RankSumP=0.315264;SB=-74.05;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.186C>T;refseq.codonCoord=62;refseq.end=367785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y62Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=65;refseq.start=367785;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr16 367821 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=194.74;QD=16.23;RankSumP=0.438131;SB=-122.95;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.150G>A;refseq.codonCoord=50;refseq.end=367821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_021259;refseq.name2=TMEM8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S50S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=29;refseq.start=367821;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr16 472713 . G A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.500000;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.203G>A;refseq.codingCoordStr_2=c.1091G>A;refseq.codonCoord_1=68;refseq.codonCoord_2=364;refseq.end_1=472713;refseq.end_2=472713;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=384;refseq.mrnaCoord_2=1430;refseq.name2_1=RAB11FIP3;refseq.name2_2=RAB11FIP3;refseq.name_1=NM_001142272;refseq.name_2=NM_014700;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G68D;refseq.proteinCoordStr_2=p.G364D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=472713;refseq.start_2=472713;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr16 510234 . G A 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.47;MQ0=0;OQ=120.67;QD=15.08;RankSumP=0.0357143;SB=-45.54;SecondBestBaseQ=35;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1084G>A;refseq.codingCoordStr_2=c.1972G>A;refseq.codonCoord_1=362;refseq.codonCoord_2=658;refseq.end_1=510234;refseq.end_2=510234;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1265;refseq.mrnaCoord_2=2311;refseq.name2_1=RAB11FIP3;refseq.name2_2=RAB11FIP3;refseq.name_1=NM_001142272;refseq.name_2=NM_014700;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A362T;refseq.proteinCoordStr_2=p.A658T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=510234;refseq.start_2=510234;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr16 510265 . G A 21.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=99.00;MQ0=0;QD=1.94;RankSumP=0.444444;SB=-31.61;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1115G>A;refseq.codingCoordStr_2=c.2003G>A;refseq.codonCoord_1=372;refseq.codonCoord_2=668;refseq.end_1=510265;refseq.end_2=510265;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1296;refseq.mrnaCoord_2=2342;refseq.name2_1=RAB11FIP3;refseq.name2_2=RAB11FIP3;refseq.name_1=NM_001142272;refseq.name_2=NM_014700;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R372H;refseq.proteinCoordStr_2=p.R668H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=510265;refseq.start_2=510265;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chr16 539392 . T G 33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=68;Dels=0.00;HRun=1;HaplotypeScore=7.74;MQ=97.55;MQ0=0;QD=0.16;RankSumP=5.48982e-08;SB=77.27;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1762T>G;refseq.codonCoord=588;refseq.end=539392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2125;refseq.name=NM_005632;refseq.name2=SOLH;refseq.positionType=CDS;refseq.proteinCoordStr=p.C588G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-81;refseq.start=539392;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr16 542371 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=95.57;MQ0=0;OQ=204.05;QD=6.80;RankSumP=0.650456;SB=-37.64;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2577C>T;refseq.codonCoord=859;refseq.end=542371;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2940;refseq.name=NM_005632;refseq.name2=SOLH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S859S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=70;refseq.start=542371;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr16 564115 . A G 99.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=6.73;MQ=98.25;MQ0=0;OQ=2108.76;QD=11.85;RankSumP=0.383859;SB=-981.85;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.40A>G;refseq.codingCoordStr_2=c.40A>G;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=564115;refseq.end_2=564115;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=142;refseq.mrnaCoord_2=142;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T14A;refseq.proteinCoordStr_2=p.T14A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=564115;refseq.start_2=564115;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr16 564714 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=7.50;MQ=97.91;MQ0=0;OQ=1172.12;QD=11.27;RankSumP=0.166658;SB=-497.98;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.639C>T;refseq.codingCoordStr_2=c.639C>T;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.end_1=564714;refseq.end_2=564714;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=741;refseq.mrnaCoord_2=741;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C213C;refseq.proteinCoordStr_2=p.C213C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=564714;refseq.start_2=564714;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr16 570903 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=8.45;MQ=98.49;MQ0=0;OQ=1907.01;QD=13.62;RankSumP=0.196814;SB=-375.43;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1461C>G;refseq.codingCoordStr_2=c.1461C>G;refseq.codonCoord_1=487;refseq.codonCoord_2=487;refseq.end_1=570903;refseq.end_2=570903;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1563;refseq.mrnaCoord_2=1563;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L487L;refseq.proteinCoordStr_2=p.L487L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=570903;refseq.start_2=570903;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr16 572284 . G A 162.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=93.77;MQ0=0;OQ=1341.98;QD=15.98;RankSumP=0.634296;SB=-604.57;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1567G>A;refseq.codonCoord_2=523;refseq.end_1=572873;refseq.end_2=572284;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1669;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_148920;refseq.name_2=NM_004204;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G523S;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=-27;refseq.start_1=570984;refseq.start_2=572284;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr16 573126 . T C 115.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=155;Dels=0.00;HRun=2;HaplotypeScore=3.01;MQ=98.62;MQ0=0;OQ=5461.67;QD=35.24;RankSumP=1.00000;SB=-1835.92;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.*90T>C;refseq.codingCoordStr_2=c.1774T>C;refseq.codonCoord_2=592;refseq.end_1=573126;refseq.end_2=573126;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1938;refseq.mrnaCoord_2=1876;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C592R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=243;refseq.spliceDist_2=243;refseq.start_1=573126;refseq.start_2=573126;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr16 573354 . T C 286.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=98.70;MQ0=0;OQ=4345.27;QD=33.43;RankSumP=1.00000;SB=-1941.14;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.*318T>C;refseq.codingCoordStr_2=c.2002T>C;refseq.codonCoord_2=668;refseq.end_1=573354;refseq.end_2=573354;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2166;refseq.mrnaCoord_2=2104;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C668R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=471;refseq.spliceDist_2=471;refseq.start_1=573354;refseq.start_2=573354;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr16 573355 . G A 309.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.70;MQ0=0;OQ=4464.56;QD=33.82;RankSumP=1.00000;SB=-1845.44;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.*319G>A;refseq.codingCoordStr_2=c.2003G>A;refseq.codonCoord_2=668;refseq.end_1=573355;refseq.end_2=573355;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2167;refseq.mrnaCoord_2=2105;refseq.name2_1=PIGQ;refseq.name2_2=PIGQ;refseq.name_1=NM_004204;refseq.name_2=NM_148920;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C668Y;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=472;refseq.spliceDist_2=472;refseq.start_1=573355;refseq.start_2=573355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr16 621281 . G T 99.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=89.76;MQ0=0;OQ=179.75;QD=16.34;RankSumP=0.0476190;SB=-115.14;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.27G>T;refseq.codonCoord=9;refseq.end=621281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_053284;refseq.name2=WFIKKN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-145;refseq.start=621281;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 0/1 chr16 621285 . C T 47.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=91.24;MQ0=0;QD=3.67;RankSumP=0.164502;SB=-0.97;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.31C>T;refseq.codonCoord=11;refseq.end=621285;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_053284;refseq.name2=WFIKKN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L11L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-141;refseq.start=621285;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 0/1 chr16 621326 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=24;Dels=0.00;HRun=3;HaplotypeScore=3.22;MQ=95.88;MQ0=0;OQ=166.16;QD=6.92;RankSumP=0.411878;SB=-71.33;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.72A>G;refseq.codonCoord=24;refseq.end=621326;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_053284;refseq.name2=WFIKKN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P24P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-100;refseq.start=621326;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 0/1 chr16 641657 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=13.37;MQ=98.54;MQ0=0;OQ=1046.92;QD=9.69;RankSumP=0.498565;SB=-70.41;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.749C>T;refseq.codonCoord=250;refseq.end=641657;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.P250L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=13;refseq.start=641657;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 643531 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.211705;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1239C>A;refseq.codonCoord=413;refseq.end=643531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.S413S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=643531;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr16 645361 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=97.87;MQ0=0;OQ=440.13;QD=8.80;RankSumP=0.388765;SB=-10.00;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1610T>C;refseq.codonCoord=537;refseq.end=645361;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.V537A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=54;refseq.start=645361;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr16 645845 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.09;MQ0=0;OQ=459.22;QD=15.31;RankSumP=0.126974;SB=-119.60;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1921T>C;refseq.codonCoord=641;refseq.end=645845;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1975;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.L641L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-46;refseq.start=645845;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 646535 . G A 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=95.66;MQ0=0;OQ=162.57;QD=9.03;RankSumP=0.281094;SB=-78.29;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2199G>A;refseq.codonCoord=733;refseq.end=646535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2253;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q733Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=646535;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 647224 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=2;RankSumP=0.400000;SecondBestBaseQ=2;refseq.chr=chr16;refseq.codingCoordStr=c.2473+2;refseq.end=647224;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=647224;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr16 648276 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=5.76;MQ=98.95;MQ0=0;OQ=1269.40;QD=13.65;RankSumP=0.407282;SB=-542.73;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2697C>A;refseq.codonCoord=899;refseq.end=648276;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2751;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.H899Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-70;refseq.start=648276;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 649002 . C A 104.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=98.26;MQ0=0;OQ=1458.90;QD=14.03;RankSumP=0.0593450;SB=-515.94;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3001C>A;refseq.codonCoord=1001;refseq.end=649002;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3055;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1001T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-11;refseq.start=649002;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 650072 . C A 12.62 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.05;RankSumP=0.633333;SB=-30.33;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3198C>A;refseq.codonCoord=1066;refseq.end=650072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3252;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1066T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=14;refseq.start=650072;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr16 651713 . C T 139.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=98.82;MQ0=0;OQ=1623.02;QD=14.62;RankSumP=0.204914;SB=-748.97;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3789C>T;refseq.codonCoord=1263;refseq.end=651713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3843;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1263G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-76;refseq.start=651713;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr16 651906 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=11.01;MQ=98.96;MQ0=0;OQ=2223.27;QD=10.39;RankSumP=0.408623;SB=-995.47;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3879A>G;refseq.codonCoord=1293;refseq.end=651906;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3933;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1293P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=15;refseq.start=651906;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr16 655991 . G A 143.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=99.00;MQ0=0;OQ=682.84;QD=13.66;RankSumP=0.503972;SB=-290.19;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4475G>A;refseq.codonCoord=1492;refseq.end=655991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4529;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1492H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=41;refseq.start=655991;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 657524 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=3.30;MQ=98.88;MQ0=0;OQ=530.86;QD=7.27;RankSumP=0.0878228;SB=-78.02;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.5181G>T;refseq.codonCoord=1727;refseq.end=657524;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5235;refseq.name=NM_145294;refseq.name2=WDR90;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1727P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=92;refseq.start=657524;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr16 658515 . C G 185.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=98.84;MQ0=0;OQ=1999.52;QD=16.26;RankSumP=0.0782336;SB=-859.45;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.123C>G;refseq.codonCoord=41;refseq.end=658515;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_138769;refseq.name2=RHOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T41T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=27;refseq.start=658515;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr16 660987 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=97.05;MQ0=0;OQ=276.56;QD=9.88;RankSumP=0.596040;SB=-140.12;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.734G>A;refseq.codonCoord=245;refseq.end=660987;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=801;refseq.name=NM_138769;refseq.name2=RHOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R245Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-15;refseq.start=660987;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr16 662332 . C T 128.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.53;MQ0=0;OQ=717.32;QD=13.79;RankSumP=0.717865;SB=-146.11;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1273C>T;refseq.codonCoord=425;refseq.end=662332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1340;refseq.name=NM_138769;refseq.name2=RHOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R425C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-54;refseq.start=662332;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr16 662549 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=138;Dels=0.00;HRun=2;HaplotypeScore=6.43;MQ=97.96;MQ0=0;OQ=1510.94;QD=10.95;RankSumP=0.122049;SB=-630.74;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1386A>G;refseq.codonCoord=462;refseq.end=662549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1453;refseq.name=NM_138769;refseq.name2=RHOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G462G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-19;refseq.start=662549;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr16 666824 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.548A>C;refseq.codonCoord=183;refseq.end=666824;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_003961;refseq.name2=RHBDL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D183A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-74;refseq.start=666824;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 675922 . T C 126.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=99.00;MQ0=0;OQ=701.50;QD=13.24;RankSumP=0.0863673;SB=-258.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1521A>G;refseq.codonCoord=507;refseq.end=675922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2281;refseq.name=NM_032259;refseq.name2=WDR24;refseq.positionType=CDS;refseq.proteinCoordStr=p.A507A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-53;refseq.start=675922;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr16 677270 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=96.78;MQ0=0;OQ=664.37;QD=11.86;RankSumP=0.475177;SB=-178.22;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.807G>A;refseq.codonCoord=269;refseq.end=677270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1567;refseq.name=NM_032259;refseq.name2=WDR24;refseq.positionType=CDS;refseq.proteinCoordStr=p.T269T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=148;refseq.start=677270;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 686885 . A C 147.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=7.39;MQ=98.71;MQ0=0;OQ=4679.78;QD=17.40;RankSumP=0.00319620;SB=-1519.12;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.522T>G;refseq.codonCoord=174;refseq.end=686885;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_153350;refseq.name2=FBXL16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V174V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-112;refseq.start=686885;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 0/1 chr16 686915 . G A 269.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=98.76;MQ0=0;OQ=4826.65;QD=19.78;RankSumP=0.221808;SB=-1960.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=686915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_153350;refseq.name2=FBXL16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A164A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-142;refseq.start=686915;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr16 711809 . C T 33.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=4.76;RankSumP=0.714286;SB=-37.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.275C>T;refseq.codonCoord=92;refseq.end=711809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_023933;refseq.name2=FAM173A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A92V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=711809;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr16 714693 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=10.48;MQ=97.74;MQ0=0;OQ=681.30;QD=7.92;RankSumP=0.00818197;SB=-274.33;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.754T>C;refseq.codonCoord=252;refseq.end=714693;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_001031737;refseq.name2=CCDC78;refseq.positionType=CDS;refseq.proteinCoordStr=p.W252R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-12;refseq.start=714693;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 0/1 chr16 719103 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.807T>G;refseq.codonCoord_2=269;refseq.end_1=719278;refseq.end_2=719103;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1088;refseq.name2_1=HAGHL;refseq.name2_2=HAGHL;refseq.name_1=NM_032304;refseq.name_2=NM_207112;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C269W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=309;refseq.start_1=719100;refseq.start_2=719103;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr16 752701 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.20G>C;refseq.codingCoordStr_2=c.20G>C;refseq.codingCoordStr_3=c.20G>C;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.codonCoord_3=7;refseq.end_1=752701;refseq.end_2=752701;refseq.end_3=752701;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=127;refseq.mrnaCoord_2=188;refseq.mrnaCoord_3=131;refseq.name2_1=MSLN;refseq.name2_2=MSLN;refseq.name2_3=MSLN;refseq.name_1=NM_001177355;refseq.name_2=NM_005823;refseq.name_3=NM_013404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R7P;refseq.proteinCoordStr_2=p.R7P;refseq.proteinCoordStr_3=p.R7P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=752701;refseq.start_2=752701;refseq.start_3=752701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr16 753651 . G A 158.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=98.39;MQ0=0;OQ=2114.47;QD=14.79;RankSumP=0.0427659;SB=-916.86;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.138G>A;refseq.codingCoordStr_2=c.138G>A;refseq.codingCoordStr_3=c.138G>A;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.codonCoord_3=46;refseq.end_1=753651;refseq.end_2=753651;refseq.end_3=753651;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=245;refseq.mrnaCoord_2=306;refseq.mrnaCoord_3=249;refseq.name2_1=MSLN;refseq.name2_2=MSLN;refseq.name2_3=MSLN;refseq.name_1=NM_001177355;refseq.name_2=NM_005823;refseq.name_3=NM_013404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A46A;refseq.proteinCoordStr_2=p.A46A;refseq.proteinCoordStr_3=p.A46A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=753651;refseq.start_2=753651;refseq.start_3=753651;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr16 758560 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=142.95;QD=11.91;RankSumP=0.349567;SB=-87.79;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1777A>G;refseq.codingCoordStr_2=c.1777A>G;refseq.codingCoordStr_3=c.1801A>G;refseq.codonCoord_1=593;refseq.codonCoord_2=593;refseq.codonCoord_3=601;refseq.end_1=758560;refseq.end_2=758560;refseq.end_3=758560;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1884;refseq.mrnaCoord_2=1945;refseq.mrnaCoord_3=1912;refseq.name2_1=MSLN;refseq.name2_2=MSLN;refseq.name2_3=MSLN;refseq.name_1=NM_001177355;refseq.name_2=NM_005823;refseq.name_3=NM_013404;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M593V;refseq.proteinCoordStr_2=p.M593V;refseq.proteinCoordStr_3=p.M601V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceDist_3=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.spliceInfo_3=splice-donor_-7;refseq.start_1=758560;refseq.start_2=758560;refseq.start_3=758560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 0/1 chr16 760144 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=267.27;QD=15.72;RankSumP=0.582094;SB=-132.79;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2842A>G;refseq.codonCoord=948;refseq.end=760144;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2842;refseq.name=NM_001025190;refseq.name2=MSLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S948G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-115;refseq.start=760144;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr16 760623 . G A 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=211.27;QD=19.21;RankSumP=0.577381;SB=-122.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2604C>T;refseq.codonCoord=868;refseq.end=760623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2604;refseq.name=NM_001025190;refseq.name2=MSLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G868G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=50;refseq.start=760623;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr16 760889 . T C 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=98.11;MQ0=0;OQ=80.30;QD=3.09;RankSumP=0.181921;SB=-57.29;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2497A>G;refseq.codonCoord=833;refseq.end=760889;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2497;refseq.name=NM_001025190;refseq.name2=MSLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T833A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-58;refseq.start=760889;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 760945 . T A 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=98.14;MQ0=0;OQ=195.46;QD=7.24;RankSumP=0.267910;SB=-96.44;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2441A>T;refseq.codonCoord=814;refseq.end=760945;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2441;refseq.name=NM_001025190;refseq.name2=MSLNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D814V;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=18;refseq.start=760945;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr16 974835 . T C 252.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=97.76;MQ0=0;OQ=6090.60;QD=34.41;RankSumP=1.00000;SB=-2569.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.789T>C;refseq.codonCoord=263;refseq.end=974835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_014587;refseq.name2=SOX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N263N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=134;refseq.start=974835;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr16 974955 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.24;MQ0=0;OQ=288.86;QD=11.55;RankSumP=0.542346;SB=-77.35;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.909T>C;refseq.codonCoord=303;refseq.end=974955;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_014587;refseq.name2=SOX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y303Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=254;refseq.start=974955;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr16 1069873 . C T 126.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.93;MQ0=0;OQ=937.84;QD=13.40;RankSumP=0.195612;SB=-268.74;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_3=c.1004C>T;refseq.codingCoordStr_4=c.1004C>T;refseq.codonCoord_3=335;refseq.codonCoord_4=335;refseq.end_1=1071271;refseq.end_2=1071005;refseq.end_3=1069873;refseq.end_4=1069873;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1092;refseq.mrnaCoord_4=1075;refseq.name2_1=SSTR5;refseq.name2_2=SSTR5;refseq.name2_3=SSTR5;refseq.name2_4=SSTR5;refseq.name_1=NM_001172573;refseq.name_2=NM_001172572;refseq.name_3=NM_001053;refseq.name_4=NM_001172560;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P335L;refseq.proteinCoordStr_4=p.P335L;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_3=1092;refseq.spliceDist_4=1031;refseq.start_1=1069440;refseq.start_2=1069525;refseq.start_3=1069873;refseq.start_4=1069873;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 0/1 chr16 1069913 . A G 104.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.22;MQ0=0;OQ=1332.97;QD=31.00;RankSumP=1.00000;SB=-397.50;SecondBestBaseQ=34;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_3=c.1044A>G;refseq.codingCoordStr_4=c.1044A>G;refseq.codonCoord_3=348;refseq.codonCoord_4=348;refseq.end_1=1071271;refseq.end_2=1071005;refseq.end_3=1069913;refseq.end_4=1069913;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1132;refseq.mrnaCoord_4=1115;refseq.name2_1=SSTR5;refseq.name2_2=SSTR5;refseq.name2_3=SSTR5;refseq.name2_4=SSTR5;refseq.name_1=NM_001172573;refseq.name_2=NM_001172572;refseq.name_3=NM_001053;refseq.name_4=NM_001172560;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P348P;refseq.proteinCoordStr_4=p.P348P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_3=1132;refseq.spliceDist_4=1071;refseq.start_1=1069440;refseq.start_2=1069525;refseq.start_3=1069913;refseq.start_4=1069913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chr16 1211891 . G T 167.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.40;MQ0=0;OQ=1404.51;QD=31.92;RankSumP=1.00000;SB=-618.12;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.864C>A;refseq.codonCoord=288;refseq.end=1211891;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_012467;refseq.name2=TPSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F288L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=207;refseq.start=1211891;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr16 1212039 . G A 147.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=98.44;MQ0=0;OQ=2791.31;QD=34.89;RankSumP=1.00000;SB=-1324.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.716C>T;refseq.codonCoord=239;refseq.end=1212039;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=718;refseq.name=NM_012467;refseq.name2=TPSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T239I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=59;refseq.start=1212039;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr16 1212685 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=95.78;MQ0=0;OQ=629.73;QD=19.68;RankSumP=0.679201;SB=-123.70;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.479G>C;refseq.codonCoord=160;refseq.end=1212685;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_012467;refseq.name2=TPSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W160S;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-33;refseq.start=1212685;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr16 1212866 . G A 270.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.29;MQ0=0;OQ=1603.21;QD=39.10;RankSumP=1.00000;SB=-698.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.298C>T;refseq.codonCoord=100;refseq.end=1212866;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_012467;refseq.name2=TPSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L100L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=53;refseq.start=1212866;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr16 1213491 . C T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=94.71;MQ0=0;OQ=76.54;QD=2.94;RankSumP=0.143083;SB=-35.51;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.178G>A;refseq.codonCoord=60;refseq.end=1213491;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_012467;refseq.name2=TPSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V60M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-68;refseq.start=1213491;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr16 1230948 . A G 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.500000;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.8A>G;refseq.codonCoord=3;refseq.end=1230948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=60;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=1230948;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr16 1230949 . T C 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.642857;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.9T>C;refseq.codonCoord=3;refseq.end=1230949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=61;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=1230949;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 1/0 chr16 1231161 rs1141965 G T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=30.98;MQ0=37;OQ=93.88;QD=2.04;SB=-10.00;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.68G>T;refseq.codonCoord=23;refseq.end=1231161;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G23V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=1231161;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:40,5:6:-14.48,-1.81,-7.60:57.96 chr16 1231176 rs1064770 G A 335.25 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=35.07;MQ0=43;QD=5.16;SB=-144.17;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.83G>A;refseq.codonCoord=28;refseq.end=1231176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R28Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=22;refseq.start=1231176;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:48,16:13:-40.73,-3.92,-10.49:65.75 chr16 1231179 rs1064771 T C 324.89 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=34.08;MQ0=45;QD=4.71;SB=-167.74;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.86T>C;refseq.codonCoord=29;refseq.end=1231179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V29A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=25;refseq.start=1231179;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:53,16:17:-40.89,-5.12,-22.14:99 chr16 1231183 . C T 392.29 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=33.66;MQ0=45;QD=5.30;SB=-219.91;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.90C>T;refseq.codonCoord=30;refseq.end=1231183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G30G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=29;refseq.start=1231183;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:59,15:20:-48.54,-6.02,-32.93:99 chr16 1231189 . C T 518.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.21;MQ=32.19;MQ0=44;QD=6.56;RankSumP=1.00000;SB=-214.89;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.96C>T;refseq.codonCoord=32;refseq.end=1231189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V32V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=35;refseq.start=1231189;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap-filterIngatk GT 1/1 chr16 1231309 rs1141966 A G 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=4.21;MQ=33.55;MQ0=35;OQ=140.27;QD=1.35;SB=-88.45;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.216A>G;refseq.codonCoord=72;refseq.end=1231309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A72A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-18;refseq.start=1231309;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:86,14:48:-31.77,-14.46,-161.19:99 chr16 1231319 rs1141967 G C 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=37.05;MQ0=36;OQ=370.09;QD=4.11;SB=-141.73;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.226G>C;refseq.codonCoord=76;refseq.end=1231319;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V76L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=1231319;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:73,16:38:-51.74,-11.45,-121.23:99 chr16 1231598 . C G 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=40.03;MQ0=26;OQ=162.35;QD=4.78;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.396C>G;refseq.codonCoord=132;refseq.end=1231598;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N132K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-104;refseq.start=1231598;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 1/1 chr16 1231640 rs1064783 A G 47.79 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=50.15;MQ0=8;QD=1.49;SB=26.12;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.438A>G;refseq.codonCoord=146;refseq.end=1231640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_003294;refseq.name2=TPSAB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S146S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-62;refseq.start=1231640;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:26,6:21:-14.39,-6.32,-74.30:80.63 chr16 1246347 rs2272968 C G 10.93 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=163;Dels=0.00;HRun=2;HaplotypeScore=13.81;MQ=70.34;MQ0=12;QD=0.07;SB=-27.99;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.65C>G;refseq.codonCoord=22;refseq.end=1246347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=74;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P22R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-18;refseq.start=1246347;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:132,31:115:-39.00,-34.66,-468.29:43.40 chr16 1246356 . T C 104.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=68.13;MQ0=12;OQ=3366.64;QD=23.88;RankSumP=1.00000;SB=-782.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.74T>C;refseq.codonCoord=25;refseq.end=1246356;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=83;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V25A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=1246356;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr16 1246672 . G A 104.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=86.35;MQ0=4;OQ=3080.04;QD=31.43;RankSumP=1.00000;SB=-864.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.237G>A;refseq.codonCoord=79;refseq.end=1246672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A79A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-18;refseq.start=1246672;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr16 1246682 . G A 229.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=88.31;MQ0=3;OQ=2669.10;QD=33.79;RankSumP=1.00000;SB=-883.02;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.247G>A;refseq.codonCoord=83;refseq.end=1246682;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V83M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=1246682;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr16 1246803 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=57.79;MQ0=13;OQ=164.21;QD=2.08;RankSumP=0.673510;SB=44.18;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.259A>G;refseq.codonCoord=87;refseq.end=1246803;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I87V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=1246803;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr16 1246818 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=61.83;MQ0=11;OQ=373.96;QD=4.73;RankSumP=0.432335;SB=38.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.274G>A;refseq.codonCoord=92;refseq.end=1246818;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A92T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=20;refseq.start=1246818;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr16 1246919 . C T 1946.50 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=204;Dels=0.00;HRun=0;HaplotypeScore=26.92;MQ=93.10;MQ0=0;QD=9.54;RankSumP=0.0978560;SB=-951.09;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.375C>T;refseq.codonCoord=125;refseq.end=1246919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=121;refseq.start=1246919;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 0/1 chr16 1246922 . G A 1990.54 BadSOAPSNP;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=201;Dels=0.00;HRun=0;HaplotypeScore=36.08;MQ=92.86;MQ0=0;QD=9.90;RankSumP=0.384129;SB=-1014.53;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.378G>A;refseq.codonCoord=126;refseq.end=1246922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G126G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=124;refseq.start=1246922;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr16 1246928 . C T 1677.21 SnpCluster AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=92.99;MQ0=0;QD=8.65;SB=-800.07;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.384C>T;refseq.codonCoord=128;refseq.end=1246928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D128D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=130;refseq.start=1246928;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:131,62:152:-216.78,-45.78,-405.81:99 chr16 1246965 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.421T>C;refseq.codonCoord=141;refseq.end=1246965;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-100;refseq.start=1246965;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 1246972 . A G 0.08 PASS AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=20.64;MQ=93.10;MQ0=0;OQ=953.52;QD=8.91;SB=-126.56;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.428A>G;refseq.codonCoord=143;refseq.end=1246972;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H143R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-93;refseq.start=1246972;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=gatk GT:AD:DP:GL:GQ 0/1:71,36:93:-126.65,-28.02,-238.11:99 chr16 1246974 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=31.67;MQ=93.48;MQ0=0;OQ=916.49;QD=8.57;SB=-123.55;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.430A>G;refseq.codonCoord=144;refseq.end=1246974;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I144V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-91;refseq.start=1246974;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:71,36:96:-123.85,-28.92,-252.70:99 chr16 1246987 . C T 7.03 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=92.21;MQ0=0;OQ=1067.09;QD=12.86;SB=-206.15;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.443C>T;refseq.codonCoord=148;refseq.end=1246987;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_012217;refseq.name2=TPSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T148M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-78;refseq.start=1246987;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=gatk GT:AD:DP:GL:GQ 0/1:50,33:80:-134.09,-24.10,-179.46:99 chr16 1332546 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.0753968;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1080C>G;refseq.codonCoord=360;refseq.end=1332546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_003933;refseq.name2=BAIAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G360G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=18;refseq.start=1332546;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 1333406 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.163836;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1382T>G;refseq.codonCoord=461;refseq.end=1333406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1382;refseq.name=NM_003933;refseq.name2=BAIAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V461G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=12;refseq.start=1333406;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr16 1333407 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=0;RankSumP=0.126136;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1383C>G;refseq.codonCoord=461;refseq.end=1333407;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_003933;refseq.name2=BAIAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V461V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=13;refseq.start=1333407;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr16 1334508 . A C 315.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.84;MQ0=0;OQ=7101.36;QD=37.77;RankSumP=1.00000;SB=-3351.62;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1745A>C;refseq.codonCoord=582;refseq.end=1334508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1745;refseq.name=NM_003933;refseq.name2=BAIAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D582A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-20;refseq.start=1334508;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr16 1337816 . C T 186.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=96.99;MQ0=0;OQ=600.29;QD=15.80;RankSumP=0.484200;SB=-151.61;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3123C>T;refseq.codonCoord=1041;refseq.end=1337816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3123;refseq.name=NM_003933;refseq.name2=BAIAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1041D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=1337816;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 1404637 . A C 2.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=96.60;MQ0=0;OQ=173.27;QD=19.25;RankSumP=0.611111;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.57T>G;refseq.codonCoord=19;refseq.end=1404637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=65;refseq.name=NM_001037125;refseq.name2=UNKL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T19T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-21;refseq.start=1404637;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 0/1 chr16 1416331 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=156;Dels=0.00;HRun=0;HaplotypeScore=12.94;MQ=98.43;MQ0=0;OQ=2257.83;QD=14.47;RankSumP=0.411707;SB=-1086.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.293A>G;refseq.codonCoord=98;refseq.end=1416331;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_001010878;refseq.name2=C16orf91;refseq.positionType=CDS;refseq.proteinCoordStr=p.H98R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=55;refseq.start=1416331;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr16 1419251 . C T 135.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=97.64;MQ0=0;OQ=992.40;QD=18.38;RankSumP=0.698715;SB=-371.54;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=1419251;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_001010878;refseq.name2=C16orf91;refseq.positionType=CDS;refseq.proteinCoordStr=p.T32T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-49;refseq.start=1419251;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 1443880 . T A 355.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=98.44;MQ0=0;OQ=5642.16;QD=18.62;RankSumP=0.237247;SB=-2106.86;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1098A>T;refseq.codingCoordStr_2=c.1170A>T;refseq.codonCoord_1=366;refseq.codonCoord_2=390;refseq.end_1=1443880;refseq.end_2=1443880;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1208;refseq.mrnaCoord_2=1280;refseq.name2_1=CLCN7;refseq.name2_2=CLCN7;refseq.name_1=NM_001114331;refseq.name_2=NM_001287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A366A;refseq.proteinCoordStr_2=p.A390A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=1443880;refseq.start_2=1443880;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr16 1446131 . C T 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=99.29;QD=9.03;RankSumP=0.463636;SB=-7.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.828G>A;refseq.codingCoordStr_2=c.900G>A;refseq.codonCoord_1=276;refseq.codonCoord_2=300;refseq.end_1=1446131;refseq.end_2=1446131;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=938;refseq.mrnaCoord_2=1010;refseq.name2_1=CLCN7;refseq.name2_2=CLCN7;refseq.name_1=NM_001114331;refseq.name_2=NM_001287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A276A;refseq.proteinCoordStr_2=p.A300A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=1446131;refseq.start_2=1446131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr16 1476373 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.83;MQ0=0;OQ=778.50;QD=11.80;RankSumP=0.207290;SB=-149.16;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.990C>T;refseq.codonCoord=330;refseq.end=1476373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P330P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=209;refseq.start=1476373;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr16 1476536 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=97.94;MQ0=0;OQ=911.36;QD=23.98;RankSumP=0.178337;SB=-452.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.827G>A;refseq.codonCoord=276;refseq.end=1476536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R276K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=46;refseq.start=1476536;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr16 1477452 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=21;Dels=0.00;HRun=6;HaplotypeScore=0.48;MQ=98.91;MQ0=0;OQ=431.37;QD=20.54;RankSumP=0.0278380;SB=-166.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.647G>C;refseq.codonCoord=216;refseq.end=1477452;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G216A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-135;refseq.start=1477452;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr16 1477456 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=19;Dels=0.00;HRun=4;HaplotypeScore=0.48;MQ=98.90;MQ0=0;OQ=306.77;QD=16.15;RankSumP=0.329500;SB=-117.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.643A>G;refseq.codonCoord=215;refseq.end=1477456;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R215G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-139;refseq.start=1477456;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr16 1477840 . G A 127.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=98.56;MQ0=0;OQ=2565.20;QD=12.04;RankSumP=0.0149698;SB=-1116.92;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.259C>T;refseq.codonCoord=87;refseq.end=1477840;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R87W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=133;refseq.start=1477840;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr16 1478364 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.15;MQ0=0;OQ=549.81;QD=11.22;RankSumP=0.326369;SB=-182.45;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.106G>T;refseq.codonCoord=36;refseq.end=1478364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G36C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-21;refseq.start=1478364;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr16 1478434 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=109;Dels=0.00;HRun=2;HaplotypeScore=7.41;MQ=98.40;MQ0=0;OQ=710.48;QD=6.52;RankSumP=0.167227;SB=-274.44;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.36T>C;refseq.codonCoord=12;refseq.end=1478434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=36;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P12P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=36;refseq.start=1478434;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr16 1478465 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.10;MQ0=0;OQ=1081.86;QD=9.02;RankSumP=0.297157;SB=-559.77;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.5G>A;refseq.codonCoord=2;refseq.end=1478465;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5;refseq.name=NM_001013658;refseq.name2=PTX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=1478465;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr16 1484302 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=10.95;MQ=98.48;MQ0=0;OQ=1306.98;QD=11.46;RankSumP=0.212408;SB=-69.54;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.19G>C;refseq.codonCoord=7;refseq.end=1484302;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_016111;refseq.name2=TELO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E7Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=55;refseq.start=1484302;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr16 1484303 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=11.75;MQ=98.48;MQ0=0;OQ=1056.75;QD=9.27;RankSumP=0.294211;SB=-105.54;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.20A>G;refseq.codonCoord=7;refseq.end=1484303;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=311;refseq.name=NM_016111;refseq.name2=TELO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E7G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=56;refseq.start=1484303;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr16 1492392 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=4;RankSumP=0.0302233;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1639A>C;refseq.codonCoord=547;refseq.end=1492392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1930;refseq.name=NM_016111;refseq.name2=TELO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T547P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-15;refseq.start=1492392;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr16 1754441 . A G 264.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.71;MQ0=0;OQ=1401.94;QD=17.52;RankSumP=0.305069;SB=-595.33;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2239A>G;refseq.codingCoordStr_2=c.2257A>G;refseq.codonCoord_1=747;refseq.codonCoord_2=753;refseq.end_1=1754441;refseq.end_2=1754441;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2359;refseq.mrnaCoord_2=2377;refseq.name2_1=MAPK8IP3;refseq.name2_2=MAPK8IP3;refseq.name_1=NM_001040439;refseq.name_2=NM_015133;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T747A;refseq.proteinCoordStr_2=p.T753A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=1754441;refseq.start_2=1754441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr16 1756652 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500000;SecondBestBaseQ=5;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2918+2;refseq.codingCoordStr_2=c.2936+2;refseq.end_1=1756652;refseq.end_2=1756652;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=MAPK8IP3;refseq.name2_2=MAPK8IP3;refseq.name_1=NM_001040439;refseq.name_2=NM_015133;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=1756652;refseq.start_2=1756652;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr16 1758504 . G C 307.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=374.64;QD=41.63;RankSumP=1.00000;SB=-198.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3747G>C;refseq.codingCoordStr_2=c.3765G>C;refseq.codonCoord_1=1249;refseq.codonCoord_2=1255;refseq.end_1=1758504;refseq.end_2=1758504;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3867;refseq.mrnaCoord_2=3885;refseq.name2_1=MAPK8IP3;refseq.name2_2=MAPK8IP3;refseq.name_1=NM_001040439;refseq.name_2=NM_015133;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1249G;refseq.proteinCoordStr_2=p.G1255G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=1758504;refseq.start_2=1758504;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr16 1760993 . T A 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=2.92;MQ=96.33;MQ0=0;OQ=1346.71;QD=32.06;RankSumP=1.00000;SB=-259.91;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.282A>T;refseq.codonCoord=94;refseq.end=1760993;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=457;refseq.name=NM_002513;refseq.name2=NME3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V94V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=1760993;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr16 1763445 . C G 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=90.73;MQ0=0;OQ=121.29;QD=8.09;RankSumP=0.582251;SB=-36.40;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.216C>G;refseq.codonCoord=72;refseq.end=1763445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=216;refseq.name=NM_001010865;refseq.name2=EME2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V72V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-32;refseq.start=1763445;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 1765856 . C G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.272795;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1032C>G;refseq.codonCoord=344;refseq.end=1765856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_001010865;refseq.name2=EME2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G344G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=58;refseq.start=1765856;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 1767837 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.19;MQ0=0;OQ=799.16;QD=11.10;RankSumP=0.290537;SB=-231.20;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.633A>G;refseq.codonCoord=211;refseq.end=1767837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_080861;refseq.name2=SPSB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S211S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=38;refseq.start=1767837;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr16 1776797 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.12;MQ0=0;OQ=545.96;QD=13.32;RankSumP=0.511206;SB=-138.60;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.174C>A;refseq.codonCoord=58;refseq.end=1776797;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_012225;refseq.name2=NUBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I58I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=39;refseq.start=1776797;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr16 1778641 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=77;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=98.62;MQ0=0;OQ=1180.50;QD=15.33;RankSumP=0.469602;SB=-435.07;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=1778641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_012225;refseq.name2=NUBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P247P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=71;refseq.start=1778641;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr16 1782210 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.01;MQ=98.10;MQ0=0;OQ=374.44;QD=7.80;RankSumP=0.302537;SB=-95.67;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.324T>C;refseq.codingCoordStr_3=c.210T>C;refseq.codonCoord_2=108;refseq.codonCoord_3=70;refseq.end_1=1782210;refseq.end_2=1782210;refseq.end_3=1782210;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=264;refseq.mrnaCoord_2=405;refseq.mrnaCoord_3=291;refseq.name2_1=IGFALS;refseq.name2_2=IGFALS;refseq.name2_3=IGFALS;refseq.name_1=NR_027389;refseq.name_2=NM_001146006;refseq.name_3=NM_004970;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D108D;refseq.proteinCoordStr_3=p.D70D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=194;refseq.spliceDist_2=308;refseq.spliceDist_3=194;refseq.start_1=1782210;refseq.start_2=1782210;refseq.start_3=1782210;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 0/1 chr16 1817495 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=283.60;QD=6.03;RankSumP=0.438171;SB=-156.55;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.264T>C;refseq.codingCoordStr_2=c.264T>C;refseq.codingCoordStr_3=c.264T>C;refseq.codonCoord_1=88;refseq.codonCoord_2=88;refseq.codonCoord_3=88;refseq.end_1=1817495;refseq.end_2=1817495;refseq.end_3=1817495;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=270;refseq.mrnaCoord_2=270;refseq.mrnaCoord_3=270;refseq.name2_1=FAHD1;refseq.name2_2=FAHD1;refseq.name2_3=FAHD1;refseq.name_1=NM_001018104;refseq.name_2=NM_001142398;refseq.name_3=NM_031208;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A88A;refseq.proteinCoordStr_2=p.A88A;refseq.proteinCoordStr_3=p.A88A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=270;refseq.spliceDist_2=270;refseq.spliceDist_3=270;refseq.start_1=1817495;refseq.start_2=1817495;refseq.start_3=1817495;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr16 1817559 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.22;MQ0=0;OQ=1074.74;QD=13.43;RankSumP=0.0146645;SB=-302.73;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.328G>A;refseq.codingCoordStr_2=c.328G>A;refseq.codingCoordStr_3=c.328G>A;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.codonCoord_3=110;refseq.end_1=1817559;refseq.end_2=1817559;refseq.end_3=1817559;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=334;refseq.mrnaCoord_2=334;refseq.mrnaCoord_3=334;refseq.name2_1=FAHD1;refseq.name2_2=FAHD1;refseq.name2_3=FAHD1;refseq.name_1=NM_001018104;refseq.name_2=NM_001142398;refseq.name_3=NM_031208;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D110N;refseq.proteinCoordStr_2=p.D110N;refseq.proteinCoordStr_3=p.D110N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-309;refseq.spliceDist_2=-309;refseq.spliceDist_3=334;refseq.start_1=1817559;refseq.start_2=1817559;refseq.start_3=1817559;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chr16 1834913 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=1.48;MQ=98.75;MQ0=0;OQ=1383.36;QD=16.09;RankSumP=0.327750;SB=-659.03;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.831G>A;refseq.codingCoordStr_2=c.831G>A;refseq.codonCoord_1=277;refseq.codonCoord_2=277;refseq.end_1=1834913;refseq.end_2=1834913;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1026;refseq.mrnaCoord_2=949;refseq.name2_1=C16orf73;refseq.name2_2=C16orf73;refseq.name_1=NM_001163560;refseq.name_2=NM_152764;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T277T;refseq.proteinCoordStr_2=p.T277T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=1834913;refseq.start_2=1834913;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr16 1834962 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=98.66;MQ0=0;OQ=773.64;QD=12.48;RankSumP=0.144619;SB=-221.59;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.782T>C;refseq.codingCoordStr_2=c.782T>C;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.end_1=1834962;refseq.end_2=1834962;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=977;refseq.mrnaCoord_2=900;refseq.name2_1=C16orf73;refseq.name2_2=C16orf73;refseq.name_1=NM_001163560;refseq.name_2=NM_152764;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I261T;refseq.proteinCoordStr_2=p.I261T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=1834962;refseq.start_2=1834962;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr16 1936708 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.870C>G;refseq.codonCoord=290;refseq.end=1936708;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_005061;refseq.name2=RPL3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G290G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=21;refseq.start=1936708;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 1954284 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=2;HaplotypeScore=6.20;MQ=94.09;MQ0=1;OQ=7063.40;QD=40.59;RankSumP=1.00000;SB=-2737.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.261T>C;refseq.codonCoord=87;refseq.end=1954284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_002952;refseq.name2=RPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P87P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=1954284;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr16 1954529 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=81.32;MQ0=0;OQ=272.56;QD=18.17;RankSumP=0.666667;SB=-152.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.99C>T;refseq.codonCoord=33;refseq.end=1954529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=122;refseq.name=NM_002952;refseq.name2=RPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I33I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-79;refseq.start=1954529;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr16 1954592 . C T 120.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=93.21;MQ0=0;OQ=1113.66;QD=20.62;RankSumP=0.599095;SB=-366.16;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.36G>A;refseq.codonCoord=12;refseq.end=1954592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_002952;refseq.name2=RPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G12G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=39;refseq.start=1954592;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr16 1968403 . A C 128.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=6.18;MQ=97.65;MQ0=0;OQ=1402.91;QD=12.64;RankSumP=0.268195;SB=-509.26;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2223A>C;refseq.codonCoord=741;refseq.end=1968403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2325;refseq.name=NM_006453;refseq.name2=TBL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R741R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-71;refseq.start=1968403;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr16 1970128 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=96.31;MQ0=0;OQ=559.21;QD=12.16;RankSumP=0.581663;SB=-160.61;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.454C>T;refseq.codingCoordStr_2=c.457C>T;refseq.codingCoordStr_3=c.472C>T;refseq.codonCoord_1=152;refseq.codonCoord_2=153;refseq.codonCoord_3=158;refseq.end_1=1970128;refseq.end_2=1970128;refseq.end_3=1970128;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=714;refseq.mrnaCoord_2=461;refseq.mrnaCoord_3=476;refseq.name2_1=NOXO1;refseq.name2_2=NOXO1;refseq.name2_3=NOXO1;refseq.name_1=NM_144603;refseq.name_2=NM_172167;refseq.name_3=NM_172168;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L152F;refseq.proteinCoordStr_2=p.L153F;refseq.proteinCoordStr_3=p.L158F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=1970128;refseq.start_2=1970128;refseq.start_3=1970128;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/0 chr16 2071755 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=1.72503e-06;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.3769G>C;refseq.codingCoordStr_2=c.3637G>C;refseq.codingCoordStr_3=c.3769G>C;refseq.codonCoord_1=1257;refseq.codonCoord_2=1213;refseq.codonCoord_3=1257;refseq.end_1=2071755;refseq.end_2=2071755;refseq.end_3=2071755;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3875;refseq.mrnaCoord_2=3743;refseq.mrnaCoord_3=3875;refseq.name2_1=TSC2;refseq.name2_2=TSC2;refseq.name2_3=TSC2;refseq.name_1=NM_000548;refseq.name_2=NM_001077183;refseq.name_3=NM_001114382;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1257P;refseq.proteinCoordStr_2=p.A1213P;refseq.proteinCoordStr_3=p.A1257P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.start_1=2071755;refseq.start_2=2071755;refseq.start_3=2071755;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr16 2079876 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=95.99;MQ0=0;OQ=578.65;QD=14.84;RankSumP=0.585207;SB=-173.67;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.12762C>T;refseq.codingCoordStr_2=c.12765C>T;refseq.codonCoord_1=4254;refseq.codonCoord_2=4255;refseq.end_1=2079876;refseq.end_2=2079876;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12971;refseq.mrnaCoord_2=12974;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P4254P;refseq.proteinCoordStr_2=p.P4255P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=321;refseq.spliceDist_2=321;refseq.start_1=2079876;refseq.start_2=2079876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr16 2082496 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.11252T>G;refseq.codingCoordStr_2=c.11255T>G;refseq.codonCoord_1=3751;refseq.codonCoord_2=3752;refseq.end_1=2082496;refseq.end_2=2082496;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=11461;refseq.mrnaCoord_2=11464;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V3751G;refseq.proteinCoordStr_2=p.V3752G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=2082496;refseq.start_2=2082496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 2090534 . C G 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.9432G>C;refseq.codingCoordStr_2=c.9432G>C;refseq.codonCoord_1=3144;refseq.codonCoord_2=3144;refseq.end_1=2090534;refseq.end_2=2090534;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9641;refseq.mrnaCoord_2=9641;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3144G;refseq.proteinCoordStr_2=p.G3144G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=2090534;refseq.start_2=2090534;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=soap GT 1/0 chr16 2092598 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.8986T>C;refseq.codingCoordStr_2=c.8986T>C;refseq.codonCoord_1=2996;refseq.codonCoord_2=2996;refseq.end_1=2092598;refseq.end_2=2092598;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=9195;refseq.mrnaCoord_2=9195;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2996P;refseq.proteinCoordStr_2=p.S2996P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=2092598;refseq.start_2=2092598;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr16 2098799 . C A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.6370G>T;refseq.codingCoordStr_2=c.6370G>T;refseq.codonCoord_1=2124;refseq.codonCoord_2=2124;refseq.end_1=2098799;refseq.end_2=2098799;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6579;refseq.mrnaCoord_2=6579;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V2124L;refseq.proteinCoordStr_2=p.V2124L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-546;refseq.spliceDist_2=-546;refseq.start_1=2098799;refseq.start_2=2098799;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=FilteredInAll GT 1/0 chr16 2104446 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.592657;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2579G>C;refseq.codingCoordStr_2=c.2579G>C;refseq.codonCoord_1=860;refseq.codonCoord_2=860;refseq.end_1=2104446;refseq.end_2=2104446;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2788;refseq.mrnaCoord_2=2788;refseq.name2_1=PKD1;refseq.name2_2=PKD1;refseq.name_1=NM_000296;refseq.name_2=NM_001009944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R860P;refseq.proteinCoordStr_2=p.R860P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-275;refseq.spliceDist_2=-275;refseq.start_1=2104446;refseq.start_2=2104446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr16 2197106 . C G 365.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.41;MQ0=0;OQ=1171.29;QD=40.39;RankSumP=1.00000;SB=-516.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.414C>G;refseq.codonCoord=138;refseq.end=2197106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_022372;refseq.name2=MLST8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P138P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=2197106;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr16 2200557 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.500001;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.147A>G;refseq.codonCoord=49;refseq.end=2200557;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=324;refseq.name=NM_182563;refseq.name2=C16orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.G49G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-34;refseq.start=2200557;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr16 2200568 . C T 254.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=9.05;MQ=91.90;MQ0=0;OQ=784.65;QD=18.25;RankSumP=1.00000;SB=-159.20;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.136G>A;refseq.codonCoord=46;refseq.end=2200568;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_182563;refseq.name2=C16orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.V46I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-45;refseq.start=2200568;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr16 2200613 . T C 113.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=92.79;MQ0=0;OQ=844.04;QD=36.70;RankSumP=1.00000;SB=-52.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.91A>G;refseq.codonCoord=31;refseq.end=2200613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_182563;refseq.name2=C16orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.S31G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=40;refseq.start=2200613;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr16 2222257 . G A 60.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=1169.34;QD=29.98;RankSumP=1.00000;SB=-593.34;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.500G>A;refseq.codonCoord=167;refseq.end=2222257;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_004424;refseq.name2=E4F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R167H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=85;refseq.start=2222257;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr16 2254610 . T C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.347026;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.36A>G;refseq.codingCoordStr_2=c.36A>G;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=2254610;refseq.end_2=2254610;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=287;refseq.mrnaCoord_2=212;refseq.name2_1=RNPS1;refseq.name2_2=RNPS1;refseq.name_1=NM_006711;refseq.name_2=NM_080594;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L12L;refseq.proteinCoordStr_2=p.L12L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=2254610;refseq.start_2=2254610;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=soap GT 1/0 chr16 2271431 . A G 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=96.93;MQ0=0;OQ=1201.71;QD=36.42;RankSumP=1.00000;SB=-605.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4116T>C;refseq.codonCoord=1372;refseq.end=2271431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4828;refseq.name=NM_001089;refseq.name2=ABCA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1372S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-49;refseq.start=2271431;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 2285710 . G A 264.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.24;MQ0=0;OQ=4409.33;QD=18.22;RankSumP=0.128820;SB=-1795.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2296C>T;refseq.codonCoord=766;refseq.end=2285710;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3008;refseq.name=NM_001089;refseq.name2=ABCA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P766S;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=33;refseq.start=2285710;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr16 2435483 . T G 32 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=5.64426e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.953T>G;refseq.codonCoord=318;refseq.end=2435483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_001761;refseq.name2=CCNF;refseq.positionType=CDS;refseq.proteinCoordStr=p.V318G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=24;refseq.start=2435483;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 2462820 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00279804;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1046A>C;refseq.codonCoord=349;refseq.end=2462820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1249;refseq.name=NM_006181;refseq.name2=NTN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H349P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-72;refseq.start=2462820;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 2487035 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=97.98;MQ0=0;OQ=1777.43;QD=21.41;RankSumP=0.204067;SB=-824.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.885C>G;refseq.codonCoord=295;refseq.end=2487035;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_020705;refseq.name2=TBC1D24;refseq.positionType=CDS;refseq.proteinCoordStr=p.F295L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-81;refseq.start=2487035;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 2519051 . G A 162.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=98.31;MQ0=0;OQ=1024.33;QD=18.97;RankSumP=0.238687;SB=-490.08;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1185G>A;refseq.codingCoordStr_2=c.1185G>A;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.end_1=2519051;refseq.end_2=2519051;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1282;refseq.mrnaCoord_2=1282;refseq.name2_1=AMDHD2;refseq.name2_2=AMDHD2;refseq.name_1=NM_001145815;refseq.name_2=NM_015944;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L395L;refseq.proteinCoordStr_2=p.L395L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=2519051;refseq.start_2=2519051;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/0 chr16 2519546 . C G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=4.00865e-07;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1301C>G;refseq.codonCoord_2=434;refseq.end_1=2520248;refseq.end_2=2519546;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1398;refseq.name2_1=AMDHD2;refseq.name2_2=AMDHD2;refseq.name_1=NM_001145815;refseq.name_2=NM_015944;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A434G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=70;refseq.start_1=2519538;refseq.start_2=2519546;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 2520997 . T G 63 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=1.40726e-06;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.79A>C;refseq.codonCoord=27;refseq.end=2520997;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=424;refseq.name=NM_001048212;refseq.name2=CEMP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T27P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=424;refseq.start=2520997;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 2547731 . C T 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.646839;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.51C>T;refseq.codingCoordStr_2=c.51C>T;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=2547731;refseq.end_2=2547731;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=195;refseq.name2_1=PDPK1;refseq.name2_2=PDPK1;refseq.name_1=NM_002613;refseq.name_2=NM_031268;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S17S;refseq.proteinCoordStr_2=p.S17S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=2547731;refseq.start_2=2547731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chr16 2747902 . C T 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.429523;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.470C>T;refseq.codonCoord=157;refseq.end=2747902;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A157V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-46;refseq.start=2747902;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr16 2752469 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1939T>G;refseq.codonCoord=647;refseq.end=2752469;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2488;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S647A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=907;refseq.start=2752469;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr16 2752891 . A G 420.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=4141.76;QD=41.84;RankSumP=1.00000;SB=-1560.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2361A>G;refseq.codonCoord=787;refseq.end=2752891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2910;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K787K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1329;refseq.start=2752891;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr16 2752940 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=2;HaplotypeScore=2.76;MQ=98.71;MQ0=0;OQ=1909.60;QD=15.16;RankSumP=0.146888;SB=-949.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2410C>A;refseq.codonCoord=804;refseq.end=2752940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2959;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P804T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=1378;refseq.start=2752940;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 2754163 . G A 351.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.51;MQ0=0;OQ=5707.20;QD=41.66;RankSumP=1.00000;SB=-2050.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3633G>A;refseq.codonCoord=1211;refseq.end=2754163;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4182;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1211R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=2601;refseq.start=2754163;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr16 2755238 . A C 337.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3037.38;QD=38.45;RankSumP=1.00000;SB=-318.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4708A>C;refseq.codonCoord=1570;refseq.end=2755238;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5257;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1570R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-3026;refseq.start=2755238;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr16 2756137 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.5607T>C;refseq.codonCoord=1869;refseq.end=2756137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6156;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1869S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-2127;refseq.start=2756137;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr16 2757271 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.72901e-07;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.6741A>C;refseq.codonCoord=2247;refseq.end=2757271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7290;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2247T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-993;refseq.start=2757271;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr16 2758057 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=1.01616e-08;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.7527A>C;refseq.codonCoord=2509;refseq.end=2758057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8076;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2509P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-207;refseq.start=2758057;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 2758162 . T C 193.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=4.33;MQ=98.71;MQ0=0;OQ=2742.17;QD=34.28;RankSumP=1.00000;SB=-878.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.7632T>C;refseq.codonCoord=2544;refseq.end=2758162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8181;refseq.name=NM_016333;refseq.name2=SRRM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2544S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-102;refseq.start=2758162;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr16 2761574 . C T 255.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=279;Dels=0.00;HRun=1;HaplotypeScore=4.06;MQ=98.54;MQ0=0;OQ=5488.99;QD=19.67;RankSumP=0.429200;SB=-2175.94;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.*418G>A;refseq.codingCoordStr_2=c.386G>A;refseq.codonCoord_2=129;refseq.end_1=2761574;refseq.end_2=2761574;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=443;refseq.name2_1=TCEB2;refseq.name2_2=TCEB2;refseq.name_1=NM_007108;refseq.name_2=NM_207013;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S129N;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-159;refseq.spliceDist_2=33;refseq.start_1=2761574;refseq.start_2=2761574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr16 2807933 . C G 43.51 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=97.10;MQ0=0;QD=7.25;RankSumP=0.600000;SB=-40.44;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.222C>G;refseq.codingCoordStr_2=c.222C>G;refseq.codingCoordStr_3=c.222C>G;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.codonCoord_3=74;refseq.end_1=2807933;refseq.end_2=2807933;refseq.end_3=2807933;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=328;refseq.mrnaCoord_2=328;refseq.mrnaCoord_3=328;refseq.name2_1=PRSS21;refseq.name2_2=PRSS21;refseq.name2_3=PRSS21;refseq.name_1=NM_006799;refseq.name_2=NM_144956;refseq.name_3=NM_144957;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H74Q;refseq.proteinCoordStr_2=p.H74Q;refseq.proteinCoordStr_3=p.H74Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=2807933;refseq.start_2=2807933;refseq.start_3=2807933;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=FilteredInAll GT 1/0 chr16 2959784 . G C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=1;RankSumP=0.0767542;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.108G>C;refseq.codonCoord=36;refseq.end=2959784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_152341;refseq.name2=PAQR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-59;refseq.start=2959784;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr16 3005597 . T C 138.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=88.91;MQ0=1;OQ=1413.52;QD=13.09;RankSumP=0.469861;SB=-404.15;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.427A>G;refseq.codonCoord=143;refseq.end=3005597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_021195;refseq.name2=CLDN6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I143V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=448;refseq.start=3005597;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr16 3059305 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=6;HaplotypeScore=10.31;MQ=86.10;MQ0=7;OQ=194.18;QD=1.57;RankSumP=0.136316;SB=92.65;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_1=c.515A>G;refseq.codingCoordStr_2=c.515A>G;refseq.codingCoordStr_3=c.344A>G;refseq.codingCoordStr_4=c.455A>G;refseq.codingCoordStr_5=c.455A>G;refseq.codingCoordStr_6=c.488A>G;refseq.codingCoordStr_7=c.515A>G;refseq.codingCoordStr_8=c.515A>G;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.codonCoord_3=115;refseq.codonCoord_4=152;refseq.codonCoord_5=152;refseq.codonCoord_6=163;refseq.codonCoord_7=172;refseq.codonCoord_8=172;refseq.end_1=3059305;refseq.end_2=3059305;refseq.end_3=3059305;refseq.end_4=3059305;refseq.end_5=3059305;refseq.end_6=3059305;refseq.end_7=3059305;refseq.end_8=3059305;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=793;refseq.mrnaCoord_2=592;refseq.mrnaCoord_3=555;refseq.mrnaCoord_4=533;refseq.mrnaCoord_5=528;refseq.mrnaCoord_6=516;refseq.mrnaCoord_7=729;refseq.mrnaCoord_8=726;refseq.name2_1=IL32;refseq.name2_2=IL32;refseq.name2_3=IL32;refseq.name2_4=IL32;refseq.name2_5=IL32;refseq.name2_6=IL32;refseq.name2_7=IL32;refseq.name2_8=IL32;refseq.name_1=NM_001012631;refseq.name_2=NM_001012632;refseq.name_3=NM_001012633;refseq.name_4=NM_001012634;refseq.name_5=NM_001012635;refseq.name_6=NM_001012636;refseq.name_7=NM_001012718;refseq.name_8=NM_004221;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.D172G;refseq.proteinCoordStr_2=p.D172G;refseq.proteinCoordStr_3=p.D115G;refseq.proteinCoordStr_4=p.D152G;refseq.proteinCoordStr_5=p.D152G;refseq.proteinCoordStr_6=p.D163G;refseq.proteinCoordStr_7=p.D172G;refseq.proteinCoordStr_8=p.D172G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceAA_8=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.referenceCodon_7=GAC;refseq.referenceCodon_8=GAC;refseq.spliceDist_1=314;refseq.spliceDist_2=314;refseq.spliceDist_3=23;refseq.spliceDist_4=314;refseq.spliceDist_5=314;refseq.spliceDist_6=314;refseq.spliceDist_7=314;refseq.spliceDist_8=314;refseq.start_1=3059305;refseq.start_2=3059305;refseq.start_3=3059305;refseq.start_4=3059305;refseq.start_5=3059305;refseq.start_6=3059305;refseq.start_7=3059305;refseq.start_8=3059305;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;refseq.variantCodon_7=GGC;refseq.variantCodon_8=GGC;set=FilteredInAll GT 0/1 chr16 3080617 . T C 231.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1819.96;QD=16.85;RankSumP=0.446595;SB=-744.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.654A>G;refseq.codonCoord=218;refseq.end=3080617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=742;refseq.name=NM_032805;refseq.name2=ZSCAN10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E218E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=32;refseq.start=3080617;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr16 3081561 . C T 101.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=229;Dels=0.00;HRun=0;HaplotypeScore=5.18;MQ=98.91;MQ0=0;OQ=4482.22;QD=19.57;RankSumP=0.175138;SB=-1622.50;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=3081561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_032805;refseq.name2=ZSCAN10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-20;refseq.start=3081561;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr16 3082622 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.524809;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.153G>C;refseq.codonCoord=51;refseq.end=3082622;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_032805;refseq.name2=ZSCAN10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G51G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-79;refseq.start=3082622;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr16 3105426 . A G 191.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=98.68;MQ0=0;OQ=2286.68;QD=13.29;RankSumP=0.407704;SB=-1120.77;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_3=c.127A>G;refseq.codingCoordStr_4=c.127A>G;refseq.codonCoord_3=43;refseq.codonCoord_4=43;refseq.end_1=3105426;refseq.end_2=3105426;refseq.end_3=3105426;refseq.end_4=3105426;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=175;refseq.mrnaCoord_2=175;refseq.mrnaCoord_3=262;refseq.mrnaCoord_4=330;refseq.name2_1=MGC3771;refseq.name2_2=MGC3771;refseq.name2_3=ZNF205;refseq.name2_4=ZNF205;refseq.name_1=NR_024166;refseq.name_2=NR_024167;refseq.name_3=NM_001042428;refseq.name_4=NM_003456;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T43A;refseq.proteinCoordStr_4=p.T43A;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.spliceDist_3=70;refseq.spliceDist_4=70;refseq.start_1=3105426;refseq.start_2=3105426;refseq.start_3=3105426;refseq.start_4=3105426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 0/1 chr16 3233419 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2069T>G;refseq.codonCoord=690;refseq.end=3233419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2109;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.V690G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=277;refseq.start=3233419;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 3233889 . C T 211.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.62;MQ0=0;OQ=2152.99;QD=15.16;RankSumP=0.269351;SB=-748.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1764G>A;refseq.codonCoord=588;refseq.end=3233889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1804;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.P588P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=3233889;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr16 3237074 . A G 255.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.81;MQ0=0;OQ=5911.85;QD=15.00;RankSumP=0.0521442;SB=-1946.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1530T>C;refseq.codonCoord=510;refseq.end=3237074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1570;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.D510D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-58;refseq.start=3237074;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr16 3237176 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=11.12;MQ=98.45;MQ0=0;OQ=3124.14;QD=11.57;RankSumP=0.480966;SB=-843.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1428A>G;refseq.codonCoord=476;refseq.end=3237176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1468;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q476Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=72;refseq.start=3237176;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr16 3237182 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=8.59;MQ=98.36;MQ0=0;OQ=4019.71;QD=16.01;RankSumP=0.232782;SB=-1047.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1422G>A;refseq.codonCoord=474;refseq.end=3237182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1462;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.E474E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=66;refseq.start=3237182;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr16 3239750 . G A 165.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=8.32;MQ=98.77;MQ0=0;OQ=2080.09;QD=15.41;RankSumP=0.306378;SB=-976.21;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.942C>T;refseq.codonCoord=314;refseq.end=3239750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.R314R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=32;refseq.start=3239750;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr16 3244627 . C G 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=15;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.43;MQ0=0;OQ=204.10;QD=13.61;RankSumP=0.510855;SB=-48.44;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.442G>C;refseq.codonCoord=148;refseq.end=3244627;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=482;refseq.name=NM_000243;refseq.name2=MEFV;refseq.positionType=CDS;refseq.proteinCoordStr=p.E148Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=165;refseq.start=3244627;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr16 3307230 . T C 148.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.68;MQ0=0;OQ=1371.50;QD=13.06;RankSumP=0.208396;SB=-572.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.251T>C;refseq.codonCoord=84;refseq.end=3307230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_153028;refseq.name2=ZNF75A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V84A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=3307230;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr16 3345987 . G A 241.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=14.83;MQ=98.58;MQ0=0;OQ=5707.18;QD=22.38;RankSumP=0.142543;SB=-2280.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.46G>A;refseq.codonCoord=16;refseq.end=3345987;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=98;refseq.start=3345987;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr16 3345995 . A G 262.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=4.90;MQ=98.76;MQ0=0;OQ=5080.54;QD=20.24;RankSumP=0.303354;SB=-2134.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.54A>G;refseq.codonCoord=18;refseq.end=3345995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S18S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=106;refseq.start=3345995;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr16 3346388 . C G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=13.07;MQ=98.60;MQ0=0;OQ=10769.35;QD=39.30;RankSumP=1.00000;SB=-3399.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.447C>G;refseq.codonCoord=149;refseq.end=3346388;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C149W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=499;refseq.start=3346388;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr16 3346394 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.453T>G;refseq.codonCoord=151;refseq.end=3346394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G151G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=505;refseq.start=3346394;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 3346517 . A G 343.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=98.79;MQ0=0;OQ=6262.14;QD=17.99;RankSumP=0.384085;SB=-1601.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.576A>G;refseq.codonCoord=192;refseq.end=3346517;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T192T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-409;refseq.start=3346517;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr16 3346627 . G A 334.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.93;MQ0=0;OQ=5466.86;QD=20.10;RankSumP=0.456726;SB=-1803.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.686G>A;refseq.codonCoord=229;refseq.end=3346627;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_012368;refseq.name2=OR2C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R229H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-299;refseq.start=3346627;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 3374700 . A G 303.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.77;MQ0=0;OQ=2468.67;QD=18.02;RankSumP=0.118189;SB=-942.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.358T>C;refseq.codonCoord=120;refseq.end=3374700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1160;refseq.name=NM_017810;refseq.name2=ZNF434;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y120H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-241;refseq.start=3374700;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr16 3392194 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=98.93;MQ0=0;OQ=1584.23;QD=11.74;RankSumP=0.372814;SB=-754.57;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.189T>G;refseq.codingCoordStr_2=c.189T>G;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=3392194;refseq.end_2=3392194;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1004;refseq.mrnaCoord_2=1004;refseq.name2_1=ZNF174;refseq.name2_2=ZNF174;refseq.name_1=NM_001032292;refseq.name_2=NM_003450;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A63A;refseq.proteinCoordStr_2=p.A63A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-214;refseq.spliceDist_2=-214;refseq.start_1=3392194;refseq.start_2=3392194;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr16 3398833 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1137G>A;refseq.codonCoord=379;refseq.end=3398833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1952;refseq.name=NM_003450;refseq.name2=ZNF174;refseq.positionType=CDS;refseq.proteinCoordStr=p.E379E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=512;refseq.start=3398833;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr16 3520642 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1002C>A;refseq.codingCoordStr_2=c.504C>A;refseq.codonCoord_1=334;refseq.codonCoord_2=168;refseq.end_1=3520642;refseq.end_2=3520642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1107;refseq.mrnaCoord_2=583;refseq.name2_1=CLUAP1;refseq.name2_2=CLUAP1;refseq.name_1=NM_015041;refseq.name_2=NM_024793;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P334P;refseq.proteinCoordStr_2=p.P168P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=3520642;refseq.start_2=3520642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr16 3526231 . C T 348.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=11.64;MQ=98.55;MQ0=0;OQ=5452.72;QD=19.76;RankSumP=0.235627;SB=-2143.92;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1201C>T;refseq.codingCoordStr_2=c.703C>T;refseq.codonCoord_1=401;refseq.codonCoord_2=235;refseq.end_1=3526231;refseq.end_2=3526231;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1306;refseq.mrnaCoord_2=782;refseq.name2_1=CLUAP1;refseq.name2_2=CLUAP1;refseq.name_1=NM_015041;refseq.name_2=NM_024793;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R401W;refseq.proteinCoordStr_2=p.R235W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=3526231;refseq.start_2=3526231;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr16 3579140 . A G 312.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.61;MQ0=0;OQ=2922.76;QD=16.42;RankSumP=0.194009;SB=-1152.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4500T>C;refseq.codonCoord=1500;refseq.end=3579140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5127;refseq.name=NM_032444;refseq.name2=BTBD12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1500N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-137;refseq.start=3579140;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr16 3579231 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=96.70;MQ0=0;OQ=1399.20;QD=14.58;RankSumP=0.240162;SB=-717.38;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4409C>T;refseq.codonCoord=1470;refseq.end=3579231;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5036;refseq.name=NM_032444;refseq.name2=BTBD12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1470L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-228;refseq.start=3579231;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 3579252 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4388A>C;refseq.codonCoord=1463;refseq.end=3579252;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5015;refseq.name=NM_032444;refseq.name2=BTBD12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1463A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-249;refseq.start=3579252;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 3579870 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.449766;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3770T>G;refseq.codonCoord=1257;refseq.end=3579870;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4397;refseq.name=NM_032444;refseq.name2=BTBD12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1257G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-867;refseq.start=3579870;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr16 3580998 . T C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=1.47902e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2642A>G;refseq.codonCoord=881;refseq.end=3580998;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3269;refseq.name=NM_032444;refseq.name2=BTBD12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E881G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=315;refseq.start=3580998;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 3647051 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.79156e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.487G>T;refseq.codonCoord=163;refseq.end=3647051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2594;refseq.name=NM_005223;refseq.name2=DNASE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V163L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=51;refseq.start=3647051;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr16 3652964 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=248.84;QD=10.82;RankSumP=0.703851;SB=-144.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1714G>A;refseq.codonCoord=572;refseq.end=3652964;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1803;refseq.name=NM_016292;refseq.name2=TRAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E572K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=3652964;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr16 3664466 . G C 163.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=227;Dels=0.00;HRun=1;HaplotypeScore=10.74;MQ=98.85;MQ0=0;OQ=4136.69;QD=18.22;RankSumP=0.0915709;SB=-1532.53;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.919C>G;refseq.codonCoord=307;refseq.end=3664466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_016292;refseq.name2=TRAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R307G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=31;refseq.start=3664466;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr16 3717837 . T C 236.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=8.39;MQ=98.79;MQ0=0;OQ=6632.11;QD=20.41;RankSumP=0.421607;SB=-1457.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.7098A>G;refseq.codingCoordStr_2=c.7212A>G;refseq.codonCoord_1=2366;refseq.codonCoord_2=2404;refseq.end_1=3717837;refseq.end_2=3717837;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7302;refseq.mrnaCoord_2=7416;refseq.name2_1=CREBBP;refseq.name2_2=CREBBP;refseq.name_1=NM_001079846;refseq.name_2=NM_004380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E2366E;refseq.proteinCoordStr_2=p.E2404E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=2040;refseq.spliceDist_2=2040;refseq.start_1=3717837;refseq.start_2=3717837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr16 3719778 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=1.54124e-09;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.5157C>G;refseq.codingCoordStr_2=c.5271C>G;refseq.codonCoord_1=1719;refseq.codonCoord_2=1757;refseq.end_1=3719778;refseq.end_2=3719778;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5361;refseq.mrnaCoord_2=5475;refseq.name2_1=CREBBP;refseq.name2_2=CREBBP;refseq.name_1=NM_001079846;refseq.name_2=NM_004380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1719G;refseq.proteinCoordStr_2=p.G1757G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=3719778;refseq.start_2=3719778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 3800725 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.855G>C;refseq.codingCoordStr_2=c.855G>C;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=3800725;refseq.end_2=3800725;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1059;refseq.mrnaCoord_2=1059;refseq.name2_1=CREBBP;refseq.name2_2=CREBBP;refseq.name_1=NM_001079846;refseq.name_2=NM_004380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G285G;refseq.proteinCoordStr_2=p.G285G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=3800725;refseq.start_2=3800725;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr16 3956677 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=99.00;MQ0=0;OQ=1066.26;QD=10.35;RankSumP=0.474042;SB=-517.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3162T>C;refseq.codonCoord=1054;refseq.end=3956677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3701;refseq.name=NM_001116;refseq.name2=ADCY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1054H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=292;refseq.start=3956677;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr16 3967606 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=97.60;MQ0=0;OQ=937.48;QD=10.90;RankSumP=0.433116;SB=-201.47;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2706G>A;refseq.codonCoord=902;refseq.end=3967606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3245;refseq.name=NM_001116;refseq.name2=ADCY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A902A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=27;refseq.start=3967606;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr16 3973437 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=99.00;MQ0=0;OQ=485.29;QD=10.33;RankSumP=0.220109;SB=-106.95;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2316A>G;refseq.codonCoord=772;refseq.end=3973437;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2855;refseq.name=NM_001116;refseq.name2=ADCY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.I772M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=3973437;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr16 4104365 . C T 259.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=489;Dels=0.00;HRun=0;HaplotypeScore=8.34;MQ=98.68;MQ0=0;OQ=9829.02;QD=20.10;RankSumP=0.0874968;SB=-3754.57;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1080G>A;refseq.codonCoord=360;refseq.end=4104365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1619;refseq.name=NM_001116;refseq.name2=ADCY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R360R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-614;refseq.start=4104365;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr16 4105433 . T C 12.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=91.43;MQ0=0;OQ=148.21;QD=24.70;RankSumP=0.166667;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.12A>G;refseq.codonCoord=4;refseq.end=4105433;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_001116;refseq.name2=ADCY9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=55;refseq.start=4105433;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr16 4182196 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.306965;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1381G>T;refseq.codonCoord=461;refseq.end=4182196;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_001098814;refseq.name2=SRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G461W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=771;refseq.start=4182196;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr16 4250469 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.18;MQ0=0;OQ=704.75;QD=13.82;RankSumP=0.0709765;SB=-304.31;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.654G>C;refseq.codonCoord=218;refseq.end=4250469;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_003223;refseq.name2=TFAP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q218H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-13;refseq.start=4250469;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 4326815 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=17.82;MQ=97.70;MQ0=0;OQ=4502.51;QD=30.63;RankSumP=1.00000;SB=-766.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.864T>C;refseq.codonCoord=288;refseq.end=4326815;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_032575;refseq.name2=GLIS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y288Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=89;refseq.start=4326815;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr16 4326847 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.896G>C;refseq.codonCoord=299;refseq.end=4326847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_032575;refseq.name2=GLIS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G299A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=121;refseq.start=4326847;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 4371203 . A G 150.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.24;MQ0=0;OQ=1565.33;QD=34.03;RankSumP=1.00000;SB=-721.14;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.324A>G;refseq.codonCoord_2=108;refseq.end_1=4377977;refseq.end_2=4371203;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=479;refseq.name2_1=CORO7;refseq.name2_2=VASN;refseq.name_1=NM_024535;refseq.name_2=NM_138440;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T108T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=333;refseq.start_1=4355558;refseq.start_2=4371203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr16 4372030 . A C 93.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=97.84;MQ0=0;OQ=619.44;QD=23.82;RankSumP=1.00000;SB=-186.29;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1151A>C;refseq.codonCoord_2=384;refseq.end_1=4377977;refseq.end_2=4372030;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1306;refseq.name2_1=CORO7;refseq.name2_2=VASN;refseq.name_1=NM_024535;refseq.name_2=NM_138440;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E384A;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=1160;refseq.start_1=4355558;refseq.start_2=4372030;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr16 4372597 . A C 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.504247;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1718A>C;refseq.codonCoord_2=573;refseq.end_1=4377977;refseq.end_2=4372597;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1873;refseq.name2_1=CORO7;refseq.name2_2=VASN;refseq.name_1=NM_024535;refseq.name_2=NM_138440;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N573T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-934;refseq.start_1=4355558;refseq.start_2=4372597;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr16 4385328 . C T 260.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=98.43;MQ0=0;OQ=6867.17;QD=37.73;RankSumP=1.00000;SB=-2293.41;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.578G>A;refseq.codonCoord=193;refseq.end=4385328;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_024535;refseq.name2=CORO7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R193Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=14;refseq.start=4385328;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 4416090 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=99.13;MQ0=0;OQ=780.41;QD=9.88;RankSumP=0.184618;SB=-374.23;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.207T>C;refseq.codingCoordStr_2=c.207T>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=4416090;refseq.end_2=4416090;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=232;refseq.mrnaCoord_2=232;refseq.name2_1=DNAJA3;refseq.name2_2=DNAJA3;refseq.name_1=NM_001135110;refseq.name_2=NM_005147;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L69L;refseq.proteinCoordStr_2=p.L69L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=4416090;refseq.start_2=4416090;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr16 4424397 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=1;HaplotypeScore=17.16;MQ=98.50;MQ0=0;OQ=5901.15;QD=16.35;RankSumP=0.369989;SB=-1713.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.223A>T;refseq.codingCoordStr_2=c.223A>T;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=4424397;refseq.end_2=4424397;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=248;refseq.mrnaCoord_2=248;refseq.name2_1=DNAJA3;refseq.name2_2=DNAJA3;refseq.name_1=NM_001135110;refseq.name_2=NM_005147;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N75Y;refseq.proteinCoordStr_2=p.N75Y;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=4424397;refseq.start_2=4424397;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr16 4436974 . T A 228.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=1.38;MQ=98.48;MQ0=0;OQ=3884.39;QD=19.52;RankSumP=0.0182523;SB=-1379.92;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1083T>A;refseq.codingCoordStr_2=c.1083T>A;refseq.codonCoord_1=361;refseq.codonCoord_2=361;refseq.end_1=4436974;refseq.end_2=4436974;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1108;refseq.mrnaCoord_2=1108;refseq.name2_1=DNAJA3;refseq.name2_2=DNAJA3;refseq.name_1=NM_001135110;refseq.name_2=NM_005147;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G361G;refseq.proteinCoordStr_2=p.G361G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=4436974;refseq.start_2=4436974;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/0 chr16 4504058 . C G 14.58 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.62;SB=-33.42;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.75G>C;refseq.codonCoord=25;refseq.end=4504058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_013399;refseq.name2=C16orf5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-11;refseq.start=4504058;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:8:-7.14,-2.41,-26.17:47.27 chr16 4688826 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=97.05;MQ0=0;OQ=1288.69;QD=23.43;RankSumP=0.687954;SB=-544.18;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1527G>A;refseq.codonCoord=509;refseq.end=4688826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1822;refseq.name=NM_133450;refseq.name2=ANKS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q509Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-25;refseq.start=4688826;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 4691046 . C T 312.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.75;MQ0=0;OQ=2467.78;QD=17.63;RankSumP=0.470229;SB=-889.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1210G>A;refseq.codonCoord=404;refseq.end=4691046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1505;refseq.name=NM_133450;refseq.name2=ANKS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A404T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-75;refseq.start=4691046;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr16 4692135 . A G 167.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=98.45;MQ0=0;OQ=1379.19;QD=19.43;RankSumP=0.0983414;SB=-552.96;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.978T>C;refseq.codonCoord=326;refseq.end=4692135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_133450;refseq.name2=ANKS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D326D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-32;refseq.start=4692135;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr16 4730274 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=265.56;QD=9.48;RankSumP=0.641535;SB=-87.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.396G>A;refseq.codonCoord=132;refseq.end=4730274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_139170;refseq.name2=C16orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.E132E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=120;refseq.start=4730274;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr16 4734874 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=98.39;MQ0=0;OQ=964.29;QD=11.76;RankSumP=0.407307;SB=-209.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.904C>T;refseq.codonCoord=302;refseq.end=4734874;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_139170;refseq.name2=C16orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.R302C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=4734874;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr16 4736394 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=3;HaplotypeScore=3.59;MQ=98.78;MQ0=0;OQ=2292.08;QD=12.95;RankSumP=0.199326;SB=-1012.45;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1061A>G;refseq.codonCoord=354;refseq.end=4736394;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1523;refseq.name=NM_139170;refseq.name2=C16orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q354R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=18;refseq.start=4736394;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr16 4737458 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.26;MQ0=0;OQ=679.22;QD=12.82;RankSumP=0.363230;SB=-72.07;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1394C>T;refseq.codonCoord=465;refseq.end=4737458;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_139170;refseq.name2=C16orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.P465L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=114;refseq.start=4737458;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr16 4742387 . G T 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=8;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=115.88;QD=14.49;RankSumP=0.392857;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1434C>A;refseq.codonCoord=478;refseq.end=4742387;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1681;refseq.name=NM_021646;refseq.name2=ZNF500;refseq.positionType=CDS;refseq.proteinCoordStr=p.A478A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=674;refseq.start=4742387;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr16 4755609 . A G 159.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.24;MQ0=0;OQ=2460.66;QD=32.38;RankSumP=1.00000;SB=-974.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.372T>C;refseq.codonCoord=124;refseq.end=4755609;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_021646;refseq.name2=ZNF500;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-43;refseq.start=4755609;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr16 4801710 . G C 220.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=5.38;MQ=98.38;MQ0=0;OQ=6359.54;QD=39.02;RankSumP=1.00000;SB=-2120.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1377C>G;refseq.codonCoord=459;refseq.end=4801710;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1414;refseq.name=NM_032569;refseq.name2=GLYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H459Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-86;refseq.start=4801710;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 4873940 . G C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=2;HaplotypeScore=8.94;MQ=98.87;MQ0=0;OQ=16002.67;QD=47.77;RankSumP=1.00000;SB=-6352.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4717C>G;refseq.codonCoord=1573;refseq.end=4873940;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4807;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1573E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-1432;refseq.start=4873940;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr16 4874550 . G A 364.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.66;MQ0=0;OQ=2937.57;QD=39.17;RankSumP=1.00000;SB=-499.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4107C>T;refseq.codonCoord=1369;refseq.end=4874550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4197;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1369S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1500;refseq.start=4874550;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr16 4874565 . C G 191.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=97.62;MQ0=0;OQ=4633.78;QD=41.01;RankSumP=1.00000;SB=-943.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4092G>C;refseq.codonCoord=1364;refseq.end=4874565;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4182;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1364L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1485;refseq.start=4874565;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr16 4878161 . T G 434.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.92;MQ0=0;OQ=8880.10;QD=40.36;RankSumP=1.00000;SB=-2911.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2457A>C;refseq.codonCoord=819;refseq.end=4878161;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2547;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R819S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-58;refseq.start=4878161;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 4880810 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=97.54;MQ0=0;OQ=1424.84;QD=29.68;RankSumP=1.00000;SB=-419.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2082T>C;refseq.codonCoord=694;refseq.end=4880810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2172;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C694C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-81;refseq.start=4880810;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr16 4882100 . C T 290.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=98.66;MQ0=0;OQ=9094.94;QD=38.87;RankSumP=1.00000;SB=-4101.12;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1766G>A;refseq.codonCoord=589;refseq.end=4882100;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1856;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R589Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-64;refseq.start=4882100;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 4884519 . C G 276.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.69;MQ0=0;OQ=4117.81;QD=44.76;RankSumP=1.00000;SB=-1771.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1344G>C;refseq.codonCoord=448;refseq.end=4884519;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1434;refseq.name=NM_002705;refseq.name2=PPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V448V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-51;refseq.start=4884519;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr16 5015634 . G A 228.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.66;MQ0=0;OQ=1822.32;QD=37.97;RankSumP=1.00000;SB=-99.34;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1394C>T;refseq.codonCoord=465;refseq.end=5015634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1415;refseq.name=NM_016256;refseq.name2=NAGPA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T465I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=54;refseq.start=5015634;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr16 5037948 . A G 295.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=3060.00;QD=41.92;RankSumP=1.00000;SB=-1114.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1001T>C;refseq.codingCoordStr_2=c.1001T>C;refseq.codonCoord_1=334;refseq.codonCoord_2=334;refseq.end_1=5037948;refseq.end_2=5037948;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1089;refseq.mrnaCoord_2=1089;refseq.name2_1=C16orf89;refseq.name2_2=C16orf89;refseq.name_1=NM_001098514;refseq.name_2=NM_152459;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L334S;refseq.proteinCoordStr_2=p.L334S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=5037948;refseq.start_2=5037948;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr16 5046185 . C T 386.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=4549.62;QD=42.52;RankSumP=1.00000;SB=-1141.97;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.747G>A;refseq.codingCoordStr_2=c.747G>A;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.end_1=5046185;refseq.end_2=5046185;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=835;refseq.mrnaCoord_2=835;refseq.name2_1=C16orf89;refseq.name2_2=C16orf89;refseq.name_1=NM_001098514;refseq.name_2=NM_152459;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G249G;refseq.proteinCoordStr_2=p.G249G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=5046185;refseq.start_2=5046185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr16 5065482 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.483C>A;refseq.codonCoord=161;refseq.end=5065482;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_019109;refseq.name2=ALG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y161*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-57;refseq.start=5065482;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr16 5068818 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=5.85;MQ=89.44;MQ0=0;OQ=1620.71;QD=15.29;RankSumP=0.110096;SB=-649.01;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.800G>A;refseq.codonCoord=267;refseq.end=5068818;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_019109;refseq.name2=ALG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S267N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=60;refseq.start=5068818;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr16 5074817 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.555556;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1329G>A;refseq.codingCoordStr_2=c.*817C>T;refseq.codingCoordStr_3=c.*817C>T;refseq.codonCoord_1=443;refseq.end_1=5074817;refseq.end_2=5074817;refseq.end_3=5074817;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1859;refseq.mrnaCoord_3=1757;refseq.name2_1=ALG1;refseq.name2_2=FAM86A;refseq.name2_3=FAM86A;refseq.name_1=NM_019109;refseq.name_2=NM_201400;refseq.name_3=NM_201598;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.E443E;refseq.referenceAA_1=Glu;refseq.referenceCodon_1=GAG;refseq.spliceDist_1=66;refseq.spliceDist_2=-515;refseq.spliceDist_3=-515;refseq.start_1=5074817;refseq.start_2=5074817;refseq.start_3=5074817;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantCodon_1=GAA;set=FilteredInAll GT 1/0 chr16 5079187 . G C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=6.49;MQ=63.12;MQ0=14;OQ=3068.01;QD=28.67;RankSumP=1.00000;SB=-1428.48;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.814C>G;refseq.codingCoordStr_2=c.712C>G;refseq.codonCoord_1=272;refseq.codonCoord_2=238;refseq.end_1=5079187;refseq.end_2=5079187;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=761;refseq.name2_1=FAM86A;refseq.name2_2=FAM86A;refseq.name_1=NM_201400;refseq.name_2=NM_201598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H272D;refseq.proteinCoordStr_2=p.H238D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=5079187;refseq.start_2=5079187;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr16 5079218 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=74.22;MQ0=4;OQ=1075.70;QD=12.81;RankSumP=0.400116;SB=-330.04;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.783G>C;refseq.codingCoordStr_2=c.681G>C;refseq.codonCoord_1=261;refseq.codonCoord_2=227;refseq.end_1=5079218;refseq.end_2=5079218;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=730;refseq.name2_1=FAM86A;refseq.name2_2=FAM86A;refseq.name_1=NM_201400;refseq.name_2=NM_201598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G261G;refseq.proteinCoordStr_2=p.G227G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=5079218;refseq.start_2=5079218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr16 5080562 . C T 239.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=92.13;MQ0=0;OQ=1893.79;QD=17.06;RankSumP=0.104434;SB=-533.98;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.348G>A;refseq.codingCoordStr_2=c.246G>A;refseq.codonCoord_1=116;refseq.codonCoord_2=82;refseq.end_1=5080562;refseq.end_2=5080562;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=295;refseq.name2_1=FAM86A;refseq.name2_2=FAM86A;refseq.name_1=NM_201400;refseq.name_2=NM_201598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S116S;refseq.proteinCoordStr_2=p.S82S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=5080562;refseq.start_2=5080562;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr16 5085475 . C T 163.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=38.02;MQ0=45;OQ=4574.82;QD=15.00;RankSumP=0.183010;SB=-1464.86;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.138G>A;refseq.codingCoordStr_2=c.138G>A;refseq.codonCoord_1=46;refseq.codonCoord_2=46;refseq.end_1=5085475;refseq.end_2=5085475;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=187;refseq.mrnaCoord_2=187;refseq.name2_1=FAM86A;refseq.name2_2=FAM86A;refseq.name_1=NM_201400;refseq.name_2=NM_201598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L46L;refseq.proteinCoordStr_2=p.L46L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=5085475;refseq.start_2=5085475;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr16 8630130 . G C 217.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1421.14;QD=16.52;RankSumP=0.457858;SB=-659.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.176G>C;refseq.codonCoord=59;refseq.end=8630130;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.W59S;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=43;refseq.start=8630130;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr16 8636625 . G A 313.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=7.12;MQ=98.19;MQ0=0;OQ=2641.11;QD=17.15;RankSumP=0.454813;SB=-987.06;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.655G>A;refseq.codonCoord=219;refseq.end=8636625;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.A219T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-46;refseq.start=8636625;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 8643529 . T C 146.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=296;Dels=0.00;HRun=1;HaplotypeScore=3.80;MQ=98.66;MQ0=0;OQ=11835.97;QD=39.99;RankSumP=1.00000;SB=-5830.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.871T>C;refseq.codonCoord=291;refseq.end=8643529;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1147;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.L291L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-37;refseq.start=8643529;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 8643898 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.985A>C;refseq.codonCoord=329;refseq.end=8643898;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.T329P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-26;refseq.start=8643898;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr16 8645928 . T C 245.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.10;MQ0=0;OQ=3344.40;QD=33.78;RankSumP=1.00000;SB=-1594.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1024T>C;refseq.codonCoord=342;refseq.end=8645928;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1300;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.L342L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=14;refseq.start=8645928;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 8646000 . G A 194.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=97.86;MQ0=0;OQ=3110.99;QD=37.48;RankSumP=1.00000;SB=-1413.03;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1096G>A;refseq.codonCoord=366;refseq.end=8646000;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1372;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.A366T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-84;refseq.start=8646000;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr16 8646027 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=98.55;MQ0=0;OQ=1154.74;QD=19.25;RankSumP=0.254526;SB=-467.82;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1123G>A;refseq.codonCoord=375;refseq.end=8646027;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.E375K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-57;refseq.start=8646027;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr16 8646080 . A G 215.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1547.29;QD=35.98;RankSumP=1.00000;SB=-387.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1176A>G;refseq.codonCoord=392;refseq.end=8646080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1452;refseq.name=NM_024109;refseq.name2=C16orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q392Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=8646080;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 8747455 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.86;MQ0=0;OQ=2383.30;QD=14.27;RankSumP=0.336474;SB=-439.13;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.167A>G;refseq.codingCoordStr_2=c.167A>G;refseq.codingCoordStr_3=c.167A>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.end_1=8747455;refseq.end_2=8747455;refseq.end_3=8747455;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1105;refseq.mrnaCoord_2=427;refseq.mrnaCoord_3=333;refseq.name2_1=ABAT;refseq.name2_2=ABAT;refseq.name2_3=ABAT;refseq.name_1=NM_000663;refseq.name_2=NM_001127448;refseq.name_3=NM_020686;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q56R;refseq.proteinCoordStr_2=p.Q56R;refseq.proteinCoordStr_3=p.Q56R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=8747455;refseq.start_2=8747455;refseq.start_3=8747455;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr16 8751890 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=620;Dels=0.00;HRun=1;HaplotypeScore=8.34;MQ=98.85;MQ0=0;OQ=12567.56;QD=20.27;RankSumP=0.159491;SB=-5164.10;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.309C>T;refseq.codingCoordStr_2=c.309C>T;refseq.codingCoordStr_3=c.309C>T;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.codonCoord_3=103;refseq.end_1=8751890;refseq.end_2=8751890;refseq.end_3=8751890;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1247;refseq.mrnaCoord_2=569;refseq.mrnaCoord_3=475;refseq.name2_1=ABAT;refseq.name2_2=ABAT;refseq.name2_3=ABAT;refseq.name_1=NM_000663;refseq.name_2=NM_001127448;refseq.name_3=NM_020686;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V103V;refseq.proteinCoordStr_2=p.V103V;refseq.proteinCoordStr_3=p.V103V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.start_1=8751890;refseq.start_2=8751890;refseq.start_3=8751890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr16 8776277 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.77;MQ0=0;OQ=2088.49;QD=11.54;RankSumP=0.397734;SB=-641.61;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.984C>A;refseq.codingCoordStr_2=c.984C>A;refseq.codingCoordStr_3=c.984C>A;refseq.codonCoord_1=328;refseq.codonCoord_2=328;refseq.codonCoord_3=328;refseq.end_1=8776277;refseq.end_2=8776277;refseq.end_3=8776277;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1922;refseq.mrnaCoord_2=1244;refseq.mrnaCoord_3=1150;refseq.name2_1=ABAT;refseq.name2_2=ABAT;refseq.name2_3=ABAT;refseq.name_1=NM_000663;refseq.name_2=NM_001127448;refseq.name_3=NM_020686;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V328V;refseq.proteinCoordStr_2=p.V328V;refseq.proteinCoordStr_3=p.V328V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=8776277;refseq.start_2=8776277;refseq.start_3=8776277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr16 8859749 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.59;MQ0=0;OQ=4031.47;QD=39.14;RankSumP=1.00000;SB=-1297.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.240T>C;refseq.codingCoordStr_2=c.240T>C;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.end_1=8859749;refseq.end_2=8859749;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=288;refseq.name2_1=CARHSP1;refseq.name2_2=CARHSP1;refseq.name_1=NM_001042476;refseq.name_2=NM_014316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T80T;refseq.proteinCoordStr_2=p.T80T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=8859749;refseq.start_2=8859749;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr16 8860582 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=98.93;MQ0=0;OQ=590.43;QD=13.73;RankSumP=0.264596;SB=-267.25;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.105G>C;refseq.codingCoordStr_2=c.105G>C;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=8860582;refseq.end_2=8860582;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=455;refseq.mrnaCoord_2=153;refseq.name2_1=CARHSP1;refseq.name2_2=CARHSP1;refseq.name_1=NM_001042476;refseq.name_2=NM_014316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R35R;refseq.proteinCoordStr_2=p.R35R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=8860582;refseq.start_2=8860582;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr16 9823705 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.81;MQ0=0;OQ=13199.01;QD=50.19;RankSumP=1.00000;SB=-5724.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.2085G>C;refseq.codingCoordStr_2=c.2085G>C;refseq.codingCoordStr_3=c.2085G>C;refseq.codonCoord_1=695;refseq.codonCoord_2=695;refseq.codonCoord_3=695;refseq.end_1=9823705;refseq.end_2=9823705;refseq.end_3=9823705;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2395;refseq.mrnaCoord_2=2633;refseq.mrnaCoord_3=2294;refseq.name2_1=GRIN2A;refseq.name2_2=GRIN2A;refseq.name2_3=GRIN2A;refseq.name_1=NM_000833;refseq.name_2=NM_001134407;refseq.name_3=NM_001134408;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R695R;refseq.proteinCoordStr_2=p.R695R;refseq.proteinCoordStr_3=p.R695R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.spliceDist_3=78;refseq.start_1=9823705;refseq.start_2=9823705;refseq.start_3=9823705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/1 chr16 9851167 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=630;Dels=0.00;HRun=1;HaplotypeScore=20.00;MQ=98.55;MQ0=0;OQ=25656.03;QD=40.72;RankSumP=1.00000;SB=-12239.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1275G>A;refseq.codingCoordStr_2=c.1275G>A;refseq.codingCoordStr_3=c.1275G>A;refseq.codonCoord_1=425;refseq.codonCoord_2=425;refseq.codonCoord_3=425;refseq.end_1=9851167;refseq.end_2=9851167;refseq.end_3=9851167;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1585;refseq.mrnaCoord_2=1823;refseq.mrnaCoord_3=1484;refseq.name2_1=GRIN2A;refseq.name2_2=GRIN2A;refseq.name2_3=GRIN2A;refseq.name_1=NM_000833;refseq.name_2=NM_001134407;refseq.name_3=NM_001134408;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L425L;refseq.proteinCoordStr_2=p.L425L;refseq.proteinCoordStr_3=p.L425L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.spliceDist_3=-54;refseq.start_1=9851167;refseq.start_2=9851167;refseq.start_3=9851167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr16 10432160 . C G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.542857;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.182C>G;refseq.codonCoord=61;refseq.end=10432160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_024997;refseq.name2=ATF7IP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T61R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=192;refseq.start=10432160;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chr16 10432161 . G T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.314286;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.183G>T;refseq.codonCoord=61;refseq.end=10432161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_024997;refseq.name2=ATF7IP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T61T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=193;refseq.start=10432161;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr16 10483325 . C A 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=2;HaplotypeScore=8.31;MQ=98.94;MQ0=0;OQ=10808.48;QD=38.46;RankSumP=1.00000;SB=-5250.17;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1767C>A;refseq.codonCoord=589;refseq.end=10483325;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1926;refseq.name=NM_024997;refseq.name2=ATF7IP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P589P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=132;refseq.start=10483325;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr16 10677459 . T C 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=1;HaplotypeScore=13.73;MQ=98.71;MQ0=0;OQ=11067.99;QD=37.65;RankSumP=1.00000;SB=-4361.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.944A>G;refseq.codonCoord=315;refseq.end=10677459;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_144674;refseq.name2=TEKT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q315R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=81;refseq.start=10677459;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr16 10683356 . G A 452.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=98.76;MQ0=0;OQ=3519.71;QD=40.93;RankSumP=1.00000;SB=-1714.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.858C>T;refseq.codonCoord=286;refseq.end=10683356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_144674;refseq.name2=TEKT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D286D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=10683356;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr16 10695907 . G T 88.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.53;MQ0=0;OQ=1452.44;QD=31.57;RankSumP=1.00000;SB=-316.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.325C>A;refseq.codonCoord=109;refseq.end=10695907;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_144674;refseq.name2=TEKT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R109R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-240;refseq.start=10695907;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr16 10770465 . A G 232.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=98.97;MQ0=0;OQ=2183.65;QD=15.38;RankSumP=0.201558;SB=-783.71;SecondBestBaseQ=33;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.643-6;refseq.codingCoordStr_2=c.*2A>G;refseq.end_1=10770465;refseq.end_2=10770465;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_2=988;refseq.name2_1=FAM18A;refseq.name2_2=NUBP1;refseq.name_1=NM_001079512;refseq.name_2=NM_002484;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.spliceDist_1=-6;refseq.spliceDist_2=61;refseq.spliceInfo_1=splice-acceptor_-6;refseq.start_1=10770465;refseq.start_2=10770465;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr16 10903434 . A G 95.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=7.46;MQ=97.97;MQ0=0;OQ=2484.69;QD=28.89;RankSumP=1.00000;SB=-832.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.520A>G;refseq.codonCoord=174;refseq.end=10903434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_000246;refseq.name2=CIITA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R174G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=39;refseq.start=10903434;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr16 10905175 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.859A>C;refseq.codonCoord=287;refseq.end=10905175;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_000246;refseq.name2=CIITA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T287P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-79;refseq.start=10905175;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 10909244 . G A 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=92.61;MQ0=0;OQ=1356.60;QD=25.60;RankSumP=1.00000;SB=-564.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2394G>A;refseq.codonCoord=798;refseq.end=10909244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2527;refseq.name=NM_000246;refseq.name2=CIITA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P798P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-264;refseq.start=10909244;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr16 10910405 . G A 228.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=1058.07;QD=39.19;RankSumP=1.00000;SB=-179.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2676G>A;refseq.codonCoord=892;refseq.end=10910405;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2809;refseq.name=NM_000246;refseq.name2=CIITA;refseq.positionType=CDS;refseq.proteinCoordStr=p.T892T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=19;refseq.start=10910405;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr16 10910428 . A G 85.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.19;MQ0=0;OQ=1254.02;QD=33.00;RankSumP=1.00000;SB=-253.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2699A>G;refseq.codonCoord=900;refseq.end=10910428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2832;refseq.name=NM_000246;refseq.name2=CIITA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q900R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=42;refseq.start=10910428;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr16 11256207 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=9.43;MQ=98.52;MQ0=0;OQ=945.42;QD=11.53;RankSumP=0.431642;SB=-279.24;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.630G>C;refseq.codonCoord=210;refseq.end=11256207;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_003745;refseq.name2=SOCS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q210H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-433;refseq.start=11256207;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 11282367 . G T 411.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.39;MQ0=0;OQ=3655.90;QD=37.69;RankSumP=1.00000;SB=-1554.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.139C>A;refseq.codonCoord=47;refseq.end=11282367;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_002761;refseq.name2=PRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R47R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=27;refseq.start=11282367;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr16 11346997 . G A 34.46 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.92;MQ0=0;QD=8.62;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.168G>A;refseq.codonCoord=56;refseq.end=11346997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_152308;refseq.name2=C16orf75;refseq.positionType=CDS;refseq.proteinCoordStr=p.A56A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-128;refseq.start=11346997;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr16 11352073 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=486;Dels=0.00;HRun=1;HaplotypeScore=32.12;MQ=98.07;MQ0=0;OQ=7461.11;QD=15.35;RankSumP=0.283656;SB=-2294.44;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.369A>C;refseq.codonCoord=123;refseq.end=11352073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_152308;refseq.name2=C16orf75;refseq.positionType=CDS;refseq.proteinCoordStr=p.T123T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=74;refseq.start=11352073;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr16 11554993 . T C 245.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.72;MQ0=0;OQ=2989.31;QD=14.73;RankSumP=0.219292;SB=-1333.82;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_2=c.274A>G;refseq.codingCoordStr_3=c.274A>G;refseq.codingCoordStr_4=c.274A>G;refseq.codonCoord_2=92;refseq.codonCoord_3=92;refseq.codonCoord_4=92;refseq.end_1=11554993;refseq.end_2=11554993;refseq.end_3=11554993;refseq.end_4=11554993;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=344;refseq.mrnaCoord_3=344;refseq.mrnaCoord_4=507;refseq.name2_1=LITAF;refseq.name2_2=LITAF;refseq.name2_3=LITAF;refseq.name2_4=LITAF;refseq.name_1=NR_024320;refseq.name_2=NM_001136472;refseq.name_3=NM_001136473;refseq.name_4=NM_004862;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I92V;refseq.proteinCoordStr_3=p.I92V;refseq.proteinCoordStr_4=p.I92V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.start_1=11554993;refseq.start_2=11554993;refseq.start_3=11554993;refseq.start_4=11554993;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 1/0 chr16 11558002 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_2=c.86T>G;refseq.codingCoordStr_3=c.86T>G;refseq.codingCoordStr_4=c.86T>G;refseq.codonCoord_2=29;refseq.codonCoord_3=29;refseq.codonCoord_4=29;refseq.end_1=11558002;refseq.end_2=11558002;refseq.end_3=11558002;refseq.end_4=11558002;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=220;refseq.mrnaCoord_2=156;refseq.mrnaCoord_3=156;refseq.mrnaCoord_4=319;refseq.name2_1=LITAF;refseq.name2_2=LITAF;refseq.name2_3=LITAF;refseq.name2_4=LITAF;refseq.name_1=NR_024320;refseq.name_2=NM_001136472;refseq.name_3=NM_001136473;refseq.name_4=NM_004862;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.V29G;refseq.proteinCoordStr_3=p.V29G;refseq.proteinCoordStr_4=p.V29G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.spliceDist_3=91;refseq.spliceDist_4=91;refseq.start_1=11558002;refseq.start_2=11558002;refseq.start_3=11558002;refseq.start_4=11558002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=FilteredInAll GT 0/1 chr16 11680612 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2817A>C;refseq.codonCoord=939;refseq.end=11680612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2879;refseq.name=NM_015914;refseq.name2=TXNDC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P939P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-169;refseq.start=11680612;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 11743899 . C G 15.75 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=15.75;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.189G>C;refseq.codonCoord=63;refseq.end=11743899;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_015914;refseq.name2=TXNDC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P63P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-66;refseq.start=11743899;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 11744009 . G A 70.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=91.13;QD=30.38;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.79C>T;refseq.codonCoord=27;refseq.end=11744009;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=141;refseq.name=NM_015914;refseq.name2=TXNDC11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=141;refseq.start=11744009;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 1/1 chr16 11759855 . A C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=13690.87;QD=41.87;RankSumP=1.00000;SB=-5843.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2361T>G;refseq.codonCoord=787;refseq.end=11759855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2559;refseq.name=NM_014153;refseq.name2=ZC3H7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V787V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=42;refseq.start=11759855;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr16 11764908 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1929T>G;refseq.codonCoord=643;refseq.end=11764908;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2127;refseq.name=NM_014153;refseq.name2=ZC3H7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C643W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-74;refseq.start=11764908;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr16 11967664 . A G 306.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=98.84;MQ0=0;OQ=10896.19;QD=41.75;RankSumP=1.00000;SB=-5136.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.242A>G;refseq.codonCoord=81;refseq.end=11967664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=460;refseq.name=NM_001192;refseq.name2=TNFRSF17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N81S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-36;refseq.start=11967664;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 12666467 . T C 440.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.68;MQ0=0;OQ=6464.06;QD=39.90;RankSumP=1.00000;SB=-1321.54;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.296A>G;refseq.codingCoordStr_2=c.722A>G;refseq.codonCoord_1=99;refseq.codonCoord_2=241;refseq.end_1=12666467;refseq.end_2=12666467;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=407;refseq.mrnaCoord_2=833;refseq.name2_1=CPPED1;refseq.name2_2=CPPED1;refseq.name_1=NM_001099455;refseq.name_2=NM_018340;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K99R;refseq.proteinCoordStr_2=p.K241R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=12666467;refseq.start_2=12666467;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr16 12805111 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=6;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.24T>G;refseq.codingCoordStr_2=c.24T>G;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=12805111;refseq.end_2=12805111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=135;refseq.mrnaCoord_2=135;refseq.name2_1=CPPED1;refseq.name2_2=CPPED1;refseq.name_1=NM_001099455;refseq.name_2=NM_018340;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G8G;refseq.proteinCoordStr_2=p.G8G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=12805111;refseq.start_2=12805111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 13936534 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=369;Dels=0.00;HRun=2;HaplotypeScore=1.58;MQ=98.82;MQ0=0;OQ=7836.47;QD=21.24;RankSumP=0.461754;SB=-3262.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1244G>A;refseq.codonCoord=415;refseq.end=13936534;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_005236;refseq.name2=ERCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R415Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=31;refseq.start=13936534;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 13949459 . T C 295.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=1;HaplotypeScore=5.94;MQ=99.01;MQ0=0;OQ=7764.21;QD=37.15;RankSumP=1.00000;SB=-3507.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2505T>C;refseq.codonCoord=835;refseq.end=13949459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2514;refseq.name=NM_005236;refseq.name2=ERCC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S835S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=488;refseq.start=13949459;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr16 14881436 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2821A>T;refseq.codonCoord=941;refseq.end=14881436;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2887;refseq.name=NM_014287;refseq.name2=NOMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M941L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=64;refseq.start=14881436;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr16 14885840 . G T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3222G>T;refseq.codonCoord=1074;refseq.end=14885840;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3288;refseq.name=NM_014287;refseq.name2=NOMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1074C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=14885840;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chr16 14896369 . A G 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1051;Dels=0.00;HRun=1;HaplotypeScore=38.01;MQ=13.38;MQ0=962;OQ=473.39;QD=0.45;RankSumP=0.392857;SB=-151.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3458A>G;refseq.codonCoord=1153;refseq.end=14896369;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3524;refseq.name=NM_014287;refseq.name2=NOMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1153G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=14;refseq.start=14896369;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap-filterIngatk GT 0/1 chr16 14896921 . C T 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=1634;Dels=0.00;HRun=0;HaplotypeScore=108.91;MQ=23.54;MQ0=364;OQ=26775.39;QD=16.39;RankSumP=0.306049;SB=-8261.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3587C>T;refseq.codonCoord=1196;refseq.end=14896921;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3653;refseq.name=NM_014287;refseq.name2=NOMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1196V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=50;refseq.start=14896921;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 0/1 chr16 14953267 rs1059208 C T 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=682;Dels=0.00;HRun=1;HaplotypeScore=23.78;MQ=7.36;MQ0=574;OQ=161.53;QD=0.24;SB=-71.79;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.937C>T;refseq.codonCoord=313;refseq.end=14953267;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=937;refseq.name=NM_006985;refseq.name2=NPIP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L313F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-166;refseq.start=14953267;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=gatk GT:AD:DP:GL:GQ 0/1:556,117:44:-32.69,-13.25,-140.25:99 chr16 14999735 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.293708;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.133G>A;refseq.codonCoord=45;refseq.end=14999735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-29;refseq.start=14999735;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 1/0 chr16 15003176 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=35.83;MQ0=15;OQ=195.93;QD=2.51;RankSumP=0.305027;SB=-35.61;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.204C>A;refseq.codonCoord=68;refseq.end=15003176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L68L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-39;refseq.start=15003176;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr16 15005548 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=73.90;MQ0=51;OQ=2236.04;QD=6.41;RankSumP=0.172638;SB=-408.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.246C>G;refseq.codonCoord=82;refseq.end=15005548;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I82M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=15005548;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr16 15007929 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.419631;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.567C>G;refseq.codonCoord=189;refseq.end=15007929;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y189*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-13;refseq.start=15007929;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=soap GT 1/0 chr16 15018719 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=509;Dels=0.00;HRun=0;HaplotypeScore=20.17;MQ=79.70;MQ0=135;OQ=5459.27;QD=10.73;RankSumP=0.0899163;SB=-1437.43;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.902C>T;refseq.codonCoord=301;refseq.end=15018719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P301L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=41;refseq.start=15018719;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 15024068 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.383012;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1096C>T;refseq.codonCoord=366;refseq.end=15024068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1320;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R366W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=15024068;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap GT 0/1 chr16 15028048 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.122765;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=15028048;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1412;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q396Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-17;refseq.start=15028048;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr16 15037441 . C T 359.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=98.74;MQ0=0;OQ=7264.26;QD=19.85;RankSumP=0.106011;SB=-1631.53;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2175C>T;refseq.codonCoord=725;refseq.end=15037441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2399;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H725H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=68;refseq.start=15037441;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr16 15037471 . A G 314.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=5.82;MQ=98.84;MQ0=0;OQ=3152.17;QD=16.50;RankSumP=0.349599;SB=-1112.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2205A>G;refseq.codonCoord=735;refseq.end=15037471;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2429;refseq.name=NM_015027;refseq.name2=PDXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L735L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=98;refseq.start=15037471;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 15039463 . A G 209.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=95.02;MQ0=4;OQ=5015.71;QD=20.73;RankSumP=0.428111;SB=-1907.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.859T>C;refseq.codonCoord=287;refseq.end=15039463;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=864;refseq.name=NM_173474;refseq.name2=NTAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S287P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=106;refseq.start=15039463;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr16 15039475 . G T 277.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=3.99;MQ=96.31;MQ0=2;OQ=4130.89;QD=19.58;RankSumP=0.125065;SB=-1703.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.847C>A;refseq.codonCoord=283;refseq.end=15039475;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_173474;refseq.name2=NTAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H283N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=94;refseq.start=15039475;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr16 15041390 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=11.39;MQ=98.30;MQ0=0;OQ=1761.64;QD=11.01;RankSumP=0.0828312;SB=-615.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.576A>C;refseq.codonCoord=192;refseq.end=15041390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_173474;refseq.name2=NTAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A192A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=35;refseq.start=15041390;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 15064608 . C T 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.455487;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1740G>A;refseq.codonCoord=580;refseq.end=15064608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1808;refseq.name=NM_018427;refseq.name2=RRN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V580V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=34;refseq.start=15064608;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr16 15071614 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.214286;SecondBestBaseQ=34;refseq.chr=chr16;refseq.codingCoordStr=c.1260-2;refseq.end=15071614;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_018427;refseq.name2=RRN3;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=15071614;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr16 15086000 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=3.63;MQ=42.27;MQ0=14;OQ=1084.96;QD=6.38;RankSumP=0.139503;SB=-483.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.596C>T;refseq.codonCoord=199;refseq.end=15086000;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_018427;refseq.name2=RRN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=15086000;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 15588143 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.77;MQ0=0;OQ=740.82;QD=9.88;RankSumP=0.262225;SB=-119.07;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.520C>T;refseq.codingCoordStr_2=c.571C>T;refseq.codonCoord_1=174;refseq.codonCoord_2=191;refseq.end_1=15588143;refseq.end_2=15588143;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=576;refseq.mrnaCoord_2=757;refseq.name2_1=C16orf45;refseq.name2_2=C16orf45;refseq.name_1=NM_001142469;refseq.name_2=NM_033201;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L174L;refseq.proteinCoordStr_2=p.L191L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=15588143;refseq.start_2=15588143;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr16 15718524 . C T 449.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.68;MQ0=0;OQ=3392.93;QD=40.88;RankSumP=1.00000;SB=-1630.05;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.codingCoordStr_3=c.5499G>A;refseq.codingCoordStr_4=c.5499G>A;refseq.codingCoordStr_5=c.5478G>A;refseq.codingCoordStr_6=c.5478G>A;refseq.codonCoord_3=1833;refseq.codonCoord_4=1833;refseq.codonCoord_5=1826;refseq.codonCoord_6=1826;refseq.end_1=15725538;refseq.end_2=15725538;refseq.end_3=15718524;refseq.end_4=15718524;refseq.end_5=15718524;refseq.end_6=15718524;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=5606;refseq.mrnaCoord_4=5606;refseq.mrnaCoord_5=5585;refseq.mrnaCoord_6=5585;refseq.name2_1=NDE1;refseq.name2_2=NDE1;refseq.name2_3=MYH11;refseq.name2_4=MYH11;refseq.name2_5=MYH11;refseq.name2_6=MYH11;refseq.name_1=NM_001143979;refseq.name_2=NM_017668;refseq.name_3=NM_001040113;refseq.name_4=NM_001040114;refseq.name_5=NM_002474;refseq.name_6=NM_022844;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.L1833L;refseq.proteinCoordStr_4=p.L1833L;refseq.proteinCoordStr_5=p.L1826L;refseq.proteinCoordStr_6=p.L1826L;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.spliceDist_3=-27;refseq.spliceDist_4=-27;refseq.spliceDist_5=-27;refseq.spliceDist_6=-27;refseq.start_1=15698229;refseq.start_2=15698229;refseq.start_3=15718524;refseq.start_4=15718524;refseq.start_5=15718524;refseq.start_6=15718524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;refseq.variantCodon_5=CTA;refseq.variantCodon_6=CTA;set=Intersection GT 1/1 chr16 15718563 . C T 95.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=4.47;MQ=98.65;MQ0=0;OQ=4065.06;QD=41.06;RankSumP=1.00000;SB=-1822.43;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.codingCoordStr_3=c.5460G>A;refseq.codingCoordStr_4=c.5460G>A;refseq.codingCoordStr_5=c.5439G>A;refseq.codingCoordStr_6=c.5439G>A;refseq.codonCoord_3=1820;refseq.codonCoord_4=1820;refseq.codonCoord_5=1813;refseq.codonCoord_6=1813;refseq.end_1=15725538;refseq.end_2=15725538;refseq.end_3=15718563;refseq.end_4=15718563;refseq.end_5=15718563;refseq.end_6=15718563;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=5567;refseq.mrnaCoord_4=5567;refseq.mrnaCoord_5=5546;refseq.mrnaCoord_6=5546;refseq.name2_1=NDE1;refseq.name2_2=NDE1;refseq.name2_3=MYH11;refseq.name2_4=MYH11;refseq.name2_5=MYH11;refseq.name2_6=MYH11;refseq.name_1=NM_001143979;refseq.name_2=NM_017668;refseq.name_3=NM_001040113;refseq.name_4=NM_001040114;refseq.name_5=NM_002474;refseq.name_6=NM_022844;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.K1820K;refseq.proteinCoordStr_4=p.K1820K;refseq.proteinCoordStr_5=p.K1813K;refseq.proteinCoordStr_6=p.K1813K;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.spliceDist_3=-66;refseq.spliceDist_4=-66;refseq.spliceDist_5=-66;refseq.spliceDist_6=-66;refseq.start_1=15698229;refseq.start_2=15698229;refseq.start_3=15718563;refseq.start_4=15718563;refseq.start_5=15718563;refseq.start_6=15718563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;set=Intersection GT 1/1 chr16 15725642 . A C 373.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=99.00;MQ0=0;OQ=8720.83;QD=36.95;RankSumP=1.00000;SB=-3338.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_4=false;refseq.changesAA_6=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.codingCoordStr_1=c.4263T>G;refseq.codingCoordStr_2=c.4263T>G;refseq.codingCoordStr_3=c.*33A>C;refseq.codingCoordStr_4=c.4242T>G;refseq.codingCoordStr_5=c.*33A>C;refseq.codingCoordStr_6=c.4242T>G;refseq.codonCoord_1=1421;refseq.codonCoord_2=1421;refseq.codonCoord_4=1414;refseq.codonCoord_6=1414;refseq.end_1=15725642;refseq.end_2=15725642;refseq.end_3=15725642;refseq.end_4=15725642;refseq.end_5=15725642;refseq.end_6=15725642;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_4=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_4=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4370;refseq.mrnaCoord_2=4370;refseq.mrnaCoord_3=1867;refseq.mrnaCoord_4=4349;refseq.mrnaCoord_5=1153;refseq.mrnaCoord_6=4349;refseq.name2_1=MYH11;refseq.name2_2=MYH11;refseq.name2_3=NDE1;refseq.name2_4=MYH11;refseq.name2_5=NDE1;refseq.name2_6=MYH11;refseq.name_1=NM_001040113;refseq.name_2=NM_001040114;refseq.name_3=NM_001143979;refseq.name_4=NM_002474;refseq.name_5=NM_017668;refseq.name_6=NM_022844;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A1421A;refseq.proteinCoordStr_2=p.A1421A;refseq.proteinCoordStr_4=p.A1414A;refseq.proteinCoordStr_6=p.A1414A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_1=-124;refseq.spliceDist_2=-124;refseq.spliceDist_3=94;refseq.spliceDist_4=-124;refseq.spliceDist_5=94;refseq.spliceDist_6=-124;refseq.start_1=15725642;refseq.start_2=15725642;refseq.start_3=15725642;refseq.start_4=15725642;refseq.start_5=15725642;refseq.start_6=15725642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_4=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_6=GCG;set=Intersection GT 1/1 chr16 15736746 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.3505A>C;refseq.codingCoordStr_2=c.3505A>C;refseq.codingCoordStr_3=c.3484A>C;refseq.codingCoordStr_4=c.3484A>C;refseq.codonCoord_1=1169;refseq.codonCoord_2=1169;refseq.codonCoord_3=1162;refseq.codonCoord_4=1162;refseq.end_1=15736746;refseq.end_2=15736746;refseq.end_3=15736746;refseq.end_4=15736746;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3612;refseq.mrnaCoord_2=3612;refseq.mrnaCoord_3=3591;refseq.mrnaCoord_4=3591;refseq.name2_1=MYH11;refseq.name2_2=MYH11;refseq.name2_3=MYH11;refseq.name2_4=MYH11;refseq.name_1=NM_001040113;refseq.name_2=NM_001040114;refseq.name_3=NM_002474;refseq.name_4=NM_022844;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1169P;refseq.proteinCoordStr_2=p.T1169P;refseq.proteinCoordStr_3=p.T1162P;refseq.proteinCoordStr_4=p.T1162P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.spliceDist_3=-23;refseq.spliceDist_4=-23;refseq.start_1=15736746;refseq.start_2=15736746;refseq.start_3=15736746;refseq.start_4=15736746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr16 15772973 . G A 350.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=475;Dels=0.00;HRun=0;HaplotypeScore=11.08;MQ=98.74;MQ0=0;OQ=8876.66;QD=18.69;RankSumP=0.00540682;SB=-2509.89;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.1008C>T;refseq.codingCoordStr_2=c.1008C>T;refseq.codingCoordStr_3=c.987C>T;refseq.codingCoordStr_4=c.987C>T;refseq.codonCoord_1=336;refseq.codonCoord_2=336;refseq.codonCoord_3=329;refseq.codonCoord_4=329;refseq.end_1=15772973;refseq.end_2=15772973;refseq.end_3=15772973;refseq.end_4=15772973;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1115;refseq.mrnaCoord_2=1115;refseq.mrnaCoord_3=1094;refseq.mrnaCoord_4=1094;refseq.name2_1=MYH11;refseq.name2_2=MYH11;refseq.name2_3=MYH11;refseq.name2_4=MYH11;refseq.name_1=NM_001040113;refseq.name_2=NM_001040114;refseq.name_3=NM_002474;refseq.name_4=NM_022844;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T336T;refseq.proteinCoordStr_2=p.T336T;refseq.proteinCoordStr_3=p.T329T;refseq.proteinCoordStr_4=p.T329T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.start_1=15772973;refseq.start_2=15772973;refseq.start_3=15772973;refseq.start_4=15772973;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=filterInsoap-gatk GT 1/0 chr16 15824698 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=540;Dels=0.00;HRun=1;HaplotypeScore=5.99;MQ=98.75;MQ0=0;OQ=11177.49;QD=20.70;RankSumP=0.0798715;SB=-4706.61;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.417C>T;refseq.codingCoordStr_2=c.417C>T;refseq.codingCoordStr_3=c.417C>T;refseq.codingCoordStr_4=c.417C>T;refseq.codonCoord_1=139;refseq.codonCoord_2=139;refseq.codonCoord_3=139;refseq.codonCoord_4=139;refseq.end_1=15824698;refseq.end_2=15824698;refseq.end_3=15824698;refseq.end_4=15824698;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=524;refseq.mrnaCoord_2=524;refseq.mrnaCoord_3=524;refseq.mrnaCoord_4=524;refseq.name2_1=MYH11;refseq.name2_2=MYH11;refseq.name2_3=MYH11;refseq.name2_4=MYH11;refseq.name_1=NM_001040113;refseq.name_2=NM_001040114;refseq.name_3=NM_002474;refseq.name_4=NM_022844;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V139V;refseq.proteinCoordStr_2=p.V139V;refseq.proteinCoordStr_3=p.V139V;refseq.proteinCoordStr_4=p.V139V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.spliceDist_4=72;refseq.start_1=15824698;refseq.start_2=15824698;refseq.start_3=15824698;refseq.start_4=15824698;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;set=Intersection GT 1/0 chr16 16045823 . T C 79.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=1277.07;QD=29.02;RankSumP=1.00000;SB=-143.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.825T>C;refseq.codingCoordStr_2=c.825T>C;refseq.codingCoordStr_3=c.825T>C;refseq.codingCoordStr_4=c.825T>C;refseq.codingCoordStr_5=c.825T>C;refseq.codonCoord_1=275;refseq.codonCoord_2=275;refseq.codonCoord_3=275;refseq.codonCoord_4=275;refseq.codonCoord_5=275;refseq.end_1=16045823;refseq.end_2=16045823;refseq.end_3=16045823;refseq.end_4=16045823;refseq.end_5=16045823;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1000;refseq.mrnaCoord_2=1000;refseq.mrnaCoord_3=1000;refseq.mrnaCoord_4=1000;refseq.mrnaCoord_5=1000;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V275V;refseq.proteinCoordStr_2=p.V275V;refseq.proteinCoordStr_3=p.V275V;refseq.proteinCoordStr_4=p.V275V;refseq.proteinCoordStr_5=p.V275V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.spliceDist_4=16;refseq.spliceDist_5=16;refseq.start_1=16045823;refseq.start_2=16045823;refseq.start_3=16045823;refseq.start_4=16045823;refseq.start_5=16045823;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;set=Intersection GT 1/1 chr16 16047215 . T C 228.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=12.23;MQ=97.86;MQ0=0;OQ=7737.29;QD=37.56;RankSumP=1.00000;SB=-3077.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1062T>C;refseq.codingCoordStr_2=c.1062T>C;refseq.codingCoordStr_3=c.1062T>C;refseq.codingCoordStr_4=c.1062T>C;refseq.codingCoordStr_5=c.1062T>C;refseq.codonCoord_1=354;refseq.codonCoord_2=354;refseq.codonCoord_3=354;refseq.codonCoord_4=354;refseq.codonCoord_5=354;refseq.end_1=16047215;refseq.end_2=16047215;refseq.end_3=16047215;refseq.end_4=16047215;refseq.end_5=16047215;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1237;refseq.mrnaCoord_2=1237;refseq.mrnaCoord_3=1237;refseq.mrnaCoord_4=1237;refseq.mrnaCoord_5=1237;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N354N;refseq.proteinCoordStr_2=p.N354N;refseq.proteinCoordStr_3=p.N354N;refseq.proteinCoordStr_4=p.N354N;refseq.proteinCoordStr_5=p.N354N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.spliceDist_5=22;refseq.start_1=16047215;refseq.start_2=16047215;refseq.start_3=16047215;refseq.start_4=16047215;refseq.start_5=16047215;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;set=Intersection GT 1/1 chr16 16049663 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1380+2;refseq.codingCoordStr_2=c.1380+2;refseq.codingCoordStr_3=c.1380+2;refseq.codingCoordStr_4=c.1380+2;refseq.codingCoordStr_5=c.1380+2;refseq.end_1=16049663;refseq.end_2=16049663;refseq.end_3=16049663;refseq.end_4=16049663;refseq.end_5=16049663;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.spliceInfo_5=splice-donor_2;refseq.start_1=16049663;refseq.start_2=16049663;refseq.start_3=16049663;refseq.start_4=16049663;refseq.start_5=16049663;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;set=FilteredInAll GT 1/0 chr16 16054116 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=7;HRun=2;RankSumP=0.00000;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1415T>G;refseq.codingCoordStr_2=c.1415T>G;refseq.codingCoordStr_3=c.1415T>G;refseq.codingCoordStr_4=c.1415T>G;refseq.codingCoordStr_5=c.1415T>G;refseq.codonCoord_1=472;refseq.codonCoord_2=472;refseq.codonCoord_3=472;refseq.codonCoord_4=472;refseq.codonCoord_5=472;refseq.end_1=16054116;refseq.end_2=16054116;refseq.end_3=16054116;refseq.end_4=16054116;refseq.end_5=16054116;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1590;refseq.mrnaCoord_2=1590;refseq.mrnaCoord_3=1590;refseq.mrnaCoord_4=1590;refseq.mrnaCoord_5=1590;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V472G;refseq.proteinCoordStr_2=p.V472G;refseq.proteinCoordStr_3=p.V472G;refseq.proteinCoordStr_4=p.V472G;refseq.proteinCoordStr_5=p.V472G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.spliceDist_5=35;refseq.start_1=16054116;refseq.start_2=16054116;refseq.start_3=16054116;refseq.start_4=16054116;refseq.start_5=16054116;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr16 16069520 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=448;Dels=0.00;HRun=2;HaplotypeScore=7.92;MQ=98.78;MQ0=0;OQ=18236.16;QD=40.71;RankSumP=1.00000;SB=-6960.82;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1684T>C;refseq.codingCoordStr_2=c.1684T>C;refseq.codingCoordStr_3=c.1684T>C;refseq.codingCoordStr_4=c.1684T>C;refseq.codingCoordStr_5=c.1684T>C;refseq.codonCoord_1=562;refseq.codonCoord_2=562;refseq.codonCoord_3=562;refseq.codonCoord_4=562;refseq.codonCoord_5=562;refseq.end_1=16069520;refseq.end_2=16069520;refseq.end_3=16069520;refseq.end_4=16069520;refseq.end_5=16069520;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1859;refseq.mrnaCoord_2=1859;refseq.mrnaCoord_3=1859;refseq.mrnaCoord_4=1859;refseq.mrnaCoord_5=1859;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L562L;refseq.proteinCoordStr_2=p.L562L;refseq.proteinCoordStr_3=p.L562L;refseq.proteinCoordStr_4=p.L562L;refseq.proteinCoordStr_5=p.L562L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceDist_5=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.spliceInfo_5=splice-acceptor_7;refseq.start_1=16069520;refseq.start_2=16069520;refseq.start_3=16069520;refseq.start_4=16069520;refseq.start_5=16069520;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;set=Intersection GT 1/1 chr16 16080733 . G T 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=468;Dels=0.00;HRun=1;HaplotypeScore=15.91;MQ=98.72;MQ0=0;OQ=16809.90;QD=35.92;RankSumP=1.00000;SB=-7517.70;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.2012G>T;refseq.codingCoordStr_2=c.2012G>T;refseq.codingCoordStr_3=c.2012G>T;refseq.codingCoordStr_4=c.2012G>T;refseq.codingCoordStr_5=c.2012G>T;refseq.codonCoord_1=671;refseq.codonCoord_2=671;refseq.codonCoord_3=671;refseq.codonCoord_4=671;refseq.codonCoord_5=671;refseq.end_1=16080733;refseq.end_2=16080733;refseq.end_3=16080733;refseq.end_4=16080733;refseq.end_5=16080733;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2187;refseq.mrnaCoord_2=2187;refseq.mrnaCoord_3=2187;refseq.mrnaCoord_4=2187;refseq.mrnaCoord_5=2187;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G671V;refseq.proteinCoordStr_2=p.G671V;refseq.proteinCoordStr_3=p.G671V;refseq.proteinCoordStr_4=p.G671V;refseq.proteinCoordStr_5=p.G671V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.spliceDist_5=24;refseq.start_1=16080733;refseq.start_2=16080733;refseq.start_3=16080733;refseq.start_4=16080733;refseq.start_5=16080733;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;set=Intersection GT 1/1 chr16 16126167 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.3611A>G;refseq.codingCoordStr_2=c.3434A>G;refseq.codingCoordStr_3=c.3443A>G;refseq.codingCoordStr_4=c.3266A>G;refseq.codingCoordStr_5=c.3611A>G;refseq.codonCoord_1=1204;refseq.codonCoord_2=1145;refseq.codonCoord_3=1148;refseq.codonCoord_4=1089;refseq.codonCoord_5=1204;refseq.end_1=16126167;refseq.end_2=16126167;refseq.end_3=16126167;refseq.end_4=16126167;refseq.end_5=16126167;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3786;refseq.mrnaCoord_2=3609;refseq.mrnaCoord_3=3618;refseq.mrnaCoord_4=3441;refseq.mrnaCoord_5=3786;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E1204G;refseq.proteinCoordStr_2=p.E1145G;refseq.proteinCoordStr_3=p.E1148G;refseq.proteinCoordStr_4=p.E1089G;refseq.proteinCoordStr_5=p.E1204G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.spliceDist_5=21;refseq.start_1=16126167;refseq.start_2=16126167;refseq.start_3=16126167;refseq.start_4=16126167;refseq.start_5=16126167;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr16 16127193 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.3743T>G;refseq.codingCoordStr_2=c.3566T>G;refseq.codingCoordStr_3=c.3575T>G;refseq.codingCoordStr_4=c.3398T>G;refseq.codingCoordStr_5=c.3743T>G;refseq.codonCoord_1=1248;refseq.codonCoord_2=1189;refseq.codonCoord_3=1192;refseq.codonCoord_4=1133;refseq.codonCoord_5=1248;refseq.end_1=16127193;refseq.end_2=16127193;refseq.end_3=16127193;refseq.end_4=16127193;refseq.end_5=16127193;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3918;refseq.mrnaCoord_2=3741;refseq.mrnaCoord_3=3750;refseq.mrnaCoord_4=3573;refseq.mrnaCoord_5=3918;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V1248G;refseq.proteinCoordStr_2=p.V1189G;refseq.proteinCoordStr_3=p.V1192G;refseq.proteinCoordStr_4=p.V1133G;refseq.proteinCoordStr_5=p.V1248G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.referenceCodon_5=GTT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.start_1=16127193;refseq.start_2=16127193;refseq.start_3=16127193;refseq.start_4=16127193;refseq.start_5=16127193;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 1/0 chr16 16135743 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.96;MQ0=0;OQ=1217.57;QD=15.22;RankSumP=0.374120;SB=-384.86;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.4002G>A;refseq.codingCoordStr_2=c.3825G>A;refseq.codingCoordStr_3=c.3834G>A;refseq.codingCoordStr_4=c.3657G>A;refseq.codingCoordStr_5=c.4002G>A;refseq.codonCoord_1=1334;refseq.codonCoord_2=1275;refseq.codonCoord_3=1278;refseq.codonCoord_4=1219;refseq.codonCoord_5=1334;refseq.end_1=16135743;refseq.end_2=16135743;refseq.end_3=16135743;refseq.end_4=16135743;refseq.end_5=16135743;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4177;refseq.mrnaCoord_2=4000;refseq.mrnaCoord_3=4009;refseq.mrnaCoord_4=3832;refseq.mrnaCoord_5=4177;refseq.name2_1=ABCC1;refseq.name2_2=ABCC1;refseq.name2_3=ABCC1;refseq.name2_4=ABCC1;refseq.name2_5=ABCC1;refseq.name_1=NM_004996;refseq.name_2=NM_019862;refseq.name_3=NM_019898;refseq.name_4=NM_019899;refseq.name_5=NM_019900;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S1334S;refseq.proteinCoordStr_2=p.S1275S;refseq.proteinCoordStr_3=p.S1278S;refseq.proteinCoordStr_4=p.S1219S;refseq.proteinCoordStr_5=p.S1334S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.spliceDist_5=36;refseq.start_1=16135743;refseq.start_2=16135743;refseq.start_3=16135743;refseq.start_4=16135743;refseq.start_5=16135743;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;refseq.variantCodon_5=TCA;set=Intersection GT 1/0 chr16 16151557 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4446C>G;refseq.codonCoord=1482;refseq.end=16151557;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4483;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1482R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=43;refseq.start=16151557;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr16 16159100 . C T 317.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=8.66;MQ=98.66;MQ0=0;OQ=2857.33;QD=16.61;RankSumP=0.364123;SB=-1301.16;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3803G>A;refseq.codonCoord=1268;refseq.end=16159100;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3840;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1268Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=68;refseq.start=16159100;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr16 16167036 . G T 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=1;RankSumP=0.371381;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3251C>A;refseq.codonCoord=1084;refseq.end=16167036;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3288;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1084N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-56;refseq.start=16167036;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr16 16178858 . T C 350.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.78;MQ0=0;OQ=4916.41;QD=36.15;RankSumP=1.00000;SB=-2097.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2542A>G;refseq.codonCoord=848;refseq.end=16178858;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2579;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M848V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-49;refseq.start=16178858;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr16 16180171 . T C 101.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=2.75;MQ=98.30;MQ0=0;OQ=3912.85;QD=40.34;RankSumP=1.00000;SB=-1913.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2400A>G;refseq.codonCoord=800;refseq.end=16180171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2437;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G800G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-16;refseq.start=16180171;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr16 16186364 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=8.32;MQ=98.56;MQ0=0;OQ=1664.99;QD=12.81;RankSumP=0.0717000;SB=-465.93;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1896C>A;refseq.codonCoord=632;refseq.end=16186364;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1933;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H632Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=29;refseq.start=16186364;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 16186370 . G C 161.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=7.36;MQ=98.54;MQ0=0;OQ=1997.51;QD=16.11;RankSumP=0.477036;SB=-613.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1890C>G;refseq.codonCoord=630;refseq.end=16186370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1927;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T630T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=23;refseq.start=16186370;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr16 16188508 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.54;MQ0=0;OQ=819.27;QD=18.62;RankSumP=0.199840;SB=-287.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1841T>C;refseq.codonCoord=614;refseq.end=16188508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1878;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V614A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-27;refseq.start=16188508;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr16 16204811 . T C 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.955A>G;refseq.codonCoord=319;refseq.end=16204811;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I319V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-44;refseq.start=16204811;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr16 16210087 . T C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00153494;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.793A>G;refseq.codonCoord=265;refseq.end=16210087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_001171;refseq.name2=ABCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R265G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=16210087;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 16295583 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3595C>G;refseq.codonCoord=1199;refseq.end=16295583;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3730;refseq.name=NM_001004067;refseq.name2=NOMO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1199E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=58;refseq.start=16295583;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr16 17135869 . G A 219.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=98.45;MQ0=0;OQ=11556.37;QD=34.39;RankSumP=1.00000;SB=-4911.32;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1989C>T;refseq.codonCoord=663;refseq.end=17135869;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2074;refseq.name=NM_022166;refseq.name2=XYLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A663A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-39;refseq.start=17135869;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr16 17199575 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=11.04;MQ=97.66;MQ0=0;OQ=578.97;QD=9.05;RankSumP=0.372323;SB=-222.36;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1284C>G;refseq.codonCoord=428;refseq.end=17199575;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_022166;refseq.name2=XYLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P428P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=17199575;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr16 17201849 . G A 152.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=10.38;MQ=98.53;MQ0=0;OQ=4240.10;QD=15.53;RankSumP=0.0287841;SB=-875.80;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1077C>T;refseq.codonCoord=359;refseq.end=17201849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1162;refseq.name=NM_022166;refseq.name2=XYLT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H359H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=17201849;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr16 18418750 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0496085;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3783G>A;refseq.codingCoordStr_2=c.*445G>A;refseq.codonCoord_1=1261;refseq.end_1=18418750;refseq.end_2=18418750;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3855;refseq.mrnaCoord_2=4186;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.T1261T;refseq.referenceAA_1=Thr;refseq.referenceCodon_1=ACG;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=18418750;refseq.start_2=18418750;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantCodon_1=ACA;set=soap GT 0/1 chr16 18418838 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=801;Dels=0.00;HRun=0;HaplotypeScore=20.75;MQ=1.51;MQ0=798;OQ=71.00;QD=0.09;RankSumP=0.497279;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3695T>C;refseq.codingCoordStr_2=c.*357T>C;refseq.codonCoord_1=1232;refseq.end_1=18418838;refseq.end_2=18418838;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3767;refseq.mrnaCoord_2=4098;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.M1232T;refseq.referenceAA_1=Met;refseq.referenceCodon_1=ATG;refseq.spliceDist_1=30;refseq.spliceDist_2=-156;refseq.start_1=18418838;refseq.start_2=18418838;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantCodon_1=ACG;set=Intersection GT 0/1 chr16 18419198 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.425860;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3665+1;refseq.codingCoordStr_2=c.3666G>T;refseq.codonCoord_2=1222;refseq.end_1=18419198;refseq.end_2=18419198;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3738;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1222T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=1;refseq.spliceDist_2=129;refseq.spliceInfo_1=splice-donor_1;refseq.start_1=18419198;refseq.start_2=18419198;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=soap GT 1/0 chr16 18419277 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.459419;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3587C>T;refseq.codingCoordStr_2=c.3587C>T;refseq.codonCoord_1=1196;refseq.codonCoord_2=1196;refseq.end_1=18419277;refseq.end_2=18419277;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3659;refseq.mrnaCoord_2=3659;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1196V;refseq.proteinCoordStr_2=p.A1196V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=18419277;refseq.start_2=18419277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 1/0 chr16 18419281 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.253106;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3583G>C;refseq.codingCoordStr_2=c.3583G>C;refseq.codonCoord_1=1195;refseq.codonCoord_2=1195;refseq.end_1=18419281;refseq.end_2=18419281;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3655;refseq.mrnaCoord_2=3655;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1195R;refseq.proteinCoordStr_2=p.G1195R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=18419281;refseq.start_2=18419281;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=soap GT 1/0 chr16 18427994 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.370898;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3318T>C;refseq.codingCoordStr_2=c.3318T>C;refseq.codonCoord_1=1106;refseq.codonCoord_2=1106;refseq.end_1=18427994;refseq.end_2=18427994;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3390;refseq.mrnaCoord_2=3390;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1106D;refseq.proteinCoordStr_2=p.D1106D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=18427994;refseq.start_2=18427994;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=soap GT 0/1 chr16 18430374 . C T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.405594;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3216G>A;refseq.codingCoordStr_2=c.3216G>A;refseq.codonCoord_1=1072;refseq.codonCoord_2=1072;refseq.end_1=18430374;refseq.end_2=18430374;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3288;refseq.mrnaCoord_2=3288;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1072T;refseq.proteinCoordStr_2=p.T1072T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=18430374;refseq.start_2=18430374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 0/1 chr16 18436075 . A G 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.600000;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2694T>C;refseq.codingCoordStr_2=c.2694T>C;refseq.codonCoord_1=898;refseq.codonCoord_2=898;refseq.end_1=18436075;refseq.end_2=18436075;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2766;refseq.mrnaCoord_2=2766;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S898S;refseq.proteinCoordStr_2=p.S898S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=18436075;refseq.start_2=18436075;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=FilteredInAll GT 0/1 chr16 18438109 . T C 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.649194;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2586A>G;refseq.codingCoordStr_2=c.2586A>G;refseq.codonCoord_1=862;refseq.codonCoord_2=862;refseq.end_1=18438109;refseq.end_2=18438109;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2658;refseq.mrnaCoord_2=2658;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A862A;refseq.proteinCoordStr_2=p.A862A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=18438109;refseq.start_2=18438109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=soap GT 1/0 chr16 18448392 . C T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1738G>A;refseq.codingCoordStr_2=c.1738G>A;refseq.codonCoord_1=580;refseq.codonCoord_2=580;refseq.end_1=18448392;refseq.end_2=18448392;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1810;refseq.mrnaCoord_2=1810;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V580M;refseq.proteinCoordStr_2=p.V580M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=18448392;refseq.start_2=18448392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 0/1 chr16 18451849 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.416519;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1374A>C;refseq.codingCoordStr_2=c.1374A>C;refseq.codonCoord_1=458;refseq.codonCoord_2=458;refseq.end_1=18451849;refseq.end_2=18451849;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1446;refseq.mrnaCoord_2=1446;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K458N;refseq.proteinCoordStr_2=p.K458N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=18451849;refseq.start_2=18451849;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=soap GT 1/0 chr16 18451963 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.335805;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1260G>C;refseq.codingCoordStr_2=c.1260G>C;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.end_1=18451963;refseq.end_2=18451963;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1332;refseq.mrnaCoord_2=1332;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P420P;refseq.proteinCoordStr_2=p.P420P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=18451963;refseq.start_2=18451963;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr16 18451985 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.158459;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1238G>A;refseq.codingCoordStr_2=c.1238G>A;refseq.codonCoord_1=413;refseq.codonCoord_2=413;refseq.end_1=18451985;refseq.end_2=18451985;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1310;refseq.mrnaCoord_2=1310;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R413Q;refseq.proteinCoordStr_2=p.R413Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=18451985;refseq.start_2=18451985;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chr16 18457359 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.717354;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1210G>A;refseq.codingCoordStr_2=c.1210G>A;refseq.codonCoord_1=404;refseq.codonCoord_2=404;refseq.end_1=18457359;refseq.end_2=18457359;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1282;refseq.mrnaCoord_2=1282;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V404I;refseq.proteinCoordStr_2=p.V404I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=18457359;refseq.start_2=18457359;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=soap GT 0/1 chr16 18457384 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.721019;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1185G>A;refseq.codingCoordStr_2=c.1185G>A;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.end_1=18457384;refseq.end_2=18457384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1257;refseq.mrnaCoord_2=1257;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P395P;refseq.proteinCoordStr_2=p.P395P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=18457384;refseq.start_2=18457384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=soap GT 0/1 chr16 18462479 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.491400;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.696G>C;refseq.codingCoordStr_2=c.696G>C;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.end_1=18462479;refseq.end_2=18462479;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=768;refseq.mrnaCoord_2=768;refseq.name2_1=NOMO2;refseq.name2_2=NOMO2;refseq.name_1=NM_001004060;refseq.name_2=NM_173614;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G232G;refseq.proteinCoordStr_2=p.G232G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=18462479;refseq.start_2=18462479;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=soap GT 1/0 chr16 18949096 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=15.39;MQ=98.82;MQ0=0;OQ=17466.57;QD=43.13;RankSumP=1.00000;SB=-5536.54;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.431G>A;refseq.codingCoordStr_2=c.761G>A;refseq.codonCoord_1=144;refseq.codonCoord_2=254;refseq.end_1=18949096;refseq.end_2=18949096;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=989;refseq.mrnaCoord_2=891;refseq.name2_1=TMC7;refseq.name2_2=TMC7;refseq.name_1=NM_001160364;refseq.name_2=NM_024847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G144E;refseq.proteinCoordStr_2=p.G254E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=18949096;refseq.start_2=18949096;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr16 18956754 . A T 264.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=98.82;MQ0=0;OQ=6168.55;QD=19.46;RankSumP=0.0361124;SB=-2222.95;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.733A>T;refseq.codingCoordStr_2=c.1063A>T;refseq.codonCoord_1=245;refseq.codonCoord_2=355;refseq.end_1=18956754;refseq.end_2=18956754;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1291;refseq.mrnaCoord_2=1193;refseq.name2_1=TMC7;refseq.name2_2=TMC7;refseq.name_1=NM_001160364;refseq.name_2=NM_024847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T245S;refseq.proteinCoordStr_2=p.T355S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=18956754;refseq.start_2=18956754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr16 18975434 . G A 170.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.54;MQ0=0;OQ=14031.82;QD=42.39;RankSumP=1.00000;SB=-5856.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1611G>A;refseq.codingCoordStr_2=c.1941G>A;refseq.codonCoord_1=537;refseq.codonCoord_2=647;refseq.end_1=18975434;refseq.end_2=18975434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2169;refseq.mrnaCoord_2=2071;refseq.name2_1=TMC7;refseq.name2_2=TMC7;refseq.name_1=NM_001160364;refseq.name_2=NM_024847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T537T;refseq.proteinCoordStr_2=p.T647T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=18975434;refseq.start_2=18975434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr16 18992799 . C T 419.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.40;MQ0=0;OQ=4747.44;QD=42.77;RankSumP=1.00000;SB=-2351.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.308C>T;refseq.codonCoord=103;refseq.end=18992799;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_016138;refseq.name2=COQ7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T103M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=56;refseq.start=18992799;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr16 19092295 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.76A>C;refseq.codonCoord=26;refseq.end=19092295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_016524;refseq.name2=SYT17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T26P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=43;refseq.start=19092295;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 19362969 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=322;Dels=0.00;HRun=1;HaplotypeScore=7.11;MQ=97.84;MQ0=0;OQ=5644.87;QD=17.53;RankSumP=0.398077;SB=-1451.47;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.854G>T;refseq.codingCoordStr_2=c.854G>T;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=19362969;refseq.end_2=19362969;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1603;refseq.mrnaCoord_2=1603;refseq.name2_1=TMC5;refseq.name2_2=TMC5;refseq.name_1=NM_001105248;refseq.name_2=NM_001105249;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S285I;refseq.proteinCoordStr_2=p.S285I;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=19362969;refseq.start_2=19362969;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr16 19379072 . G A 168.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.99;MQ0=0;OQ=2749.15;QD=19.50;RankSumP=0.173827;SB=-698.21;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1063G>A;refseq.codingCoordStr_2=c.1063G>A;refseq.codingCoordStr_3=c.325G>A;refseq.codonCoord_1=355;refseq.codonCoord_2=355;refseq.codonCoord_3=109;refseq.end_1=19379072;refseq.end_2=19379072;refseq.end_3=19379072;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1812;refseq.mrnaCoord_2=1812;refseq.mrnaCoord_3=582;refseq.name2_1=TMC5;refseq.name2_2=TMC5;refseq.name2_3=TMC5;refseq.name_1=NM_001105248;refseq.name_2=NM_001105249;refseq.name_3=NM_024780;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A355T;refseq.proteinCoordStr_2=p.A355T;refseq.proteinCoordStr_3=p.A109T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.start_1=19379072;refseq.start_2=19379072;refseq.start_3=19379072;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr16 19406066 . A G 121.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=98.81;MQ0=0;OQ=1648.84;QD=14.09;RankSumP=0.330964;SB=-707.51;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.2490A>G;refseq.codingCoordStr_2=c.2490A>G;refseq.codingCoordStr_3=c.1752A>G;refseq.codonCoord_1=830;refseq.codonCoord_2=830;refseq.codonCoord_3=584;refseq.end_1=19406066;refseq.end_2=19406066;refseq.end_3=19406066;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3239;refseq.mrnaCoord_2=3239;refseq.mrnaCoord_3=2009;refseq.name2_1=TMC5;refseq.name2_2=TMC5;refseq.name2_3=TMC5;refseq.name_1=NM_001105248;refseq.name_2=NM_001105249;refseq.name_3=NM_024780;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S830S;refseq.proteinCoordStr_2=p.S830S;refseq.proteinCoordStr_3=p.S584S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=19406066;refseq.start_2=19406066;refseq.start_3=19406066;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chr16 19455248 . C G 107.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.75;MQ0=1;OQ=10676.54;QD=49.66;RankSumP=1.00000;SB=-4378.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.756C>G;refseq.codonCoord=252;refseq.end=19455248;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_014711;refseq.name2=CP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.I252M;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=486;refseq.start=19455248;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr16 19455531 . T A 254.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=99.00;MQ0=0;OQ=2300.29;QD=16.09;RankSumP=0.339938;SB=-963.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1039T>A;refseq.codonCoord=347;refseq.end=19455531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1429;refseq.name=NM_014711;refseq.name2=CP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.F347I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=769;refseq.start=19455531;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr16 19455617 . G A 335.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.74;MQ0=0;OQ=3067.23;QD=19.17;RankSumP=0.108250;SB=-1428.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1125G>A;refseq.codonCoord=375;refseq.end=19455617;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_014711;refseq.name2=CP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.M375I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-794;refseq.start=19455617;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr16 19455791 . G A 317.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=11.29;MQ=98.59;MQ0=0;OQ=6599.29;QD=21.78;RankSumP=0.489497;SB=-2517.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1299G>A;refseq.codonCoord=433;refseq.end=19455791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_014711;refseq.name2=CP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.A433A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-620;refseq.start=19455791;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr16 19461451 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=148;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.53;MQ0=0;OQ=2208.97;QD=14.93;RankSumP=0.468560;SB=-654.63;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2235A>C;refseq.codonCoord=745;refseq.end=19461451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_014711;refseq.name2=CP110;refseq.positionType=CDS;refseq.proteinCoordStr=p.T745T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=19461451;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr16 19588047 . T C 300.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=98.93;MQ0=0;OQ=2787.76;QD=17.00;RankSumP=0.373103;SB=-1378.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2286T>C;refseq.codonCoord=762;refseq.end=19588047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_020314;refseq.name2=C16orf62;refseq.positionType=CDS;refseq.proteinCoordStr=p.D762D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=65;refseq.start=19588047;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr16 19633776 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=1;HaplotypeScore=5.12;MQ=97.63;MQ0=2;OQ=6959.15;QD=19.77;RankSumP=0.378888;SB=-2905.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.83G>A;refseq.codonCoord=28;refseq.end=19633776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_001012991;refseq.name2=C16orf88;refseq.positionType=CDS;refseq.proteinCoordStr=p.R28Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=85;refseq.start=19633776;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 19707714 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=147;Dels=0.00;HRun=3;HaplotypeScore=14.41;MQ=98.37;MQ0=0;OQ=2235.55;QD=15.21;RankSumP=0.00205284;SB=-995.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.659T>C;refseq.codonCoord=220;refseq.end=19707714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1358;refseq.name=NM_153208;refseq.name2=IQCK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L220P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-32;refseq.start=19707714;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/0 chr16 19790865 . G A 134.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=97.80;MQ0=0;OQ=1520.69;QD=14.76;RankSumP=0.337598;SB=-608.01;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.804C>T;refseq.codonCoord=268;refseq.end=19790865;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_016235;refseq.name2=GPRC5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N268N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-227;refseq.start=19790865;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr16 19791124 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=100;Dels=0.00;HRun=2;HaplotypeScore=17.65;MQ=97.19;MQ0=0;OQ=96.77;QD=0.97;RankSumP=0.00000;SB=71.23;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.545T>G;refseq.codonCoord=182;refseq.end=19791124;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_016235;refseq.name2=GPRC5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V182G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-486;refseq.start=19791124;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 20236186 . T C 214.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.95;MQ0=0;OQ=6867.30;QD=21.20;RankSumP=0.208269;SB=-1578.49;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.1275A>G;refseq.codingCoordStr_2=c.834A>G;refseq.codingCoordStr_3=c.825A>G;refseq.codingCoordStr_4=c.1266A>G;refseq.codonCoord_1=425;refseq.codonCoord_2=278;refseq.codonCoord_3=275;refseq.codonCoord_4=422;refseq.end_1=20236186;refseq.end_2=20236186;refseq.end_3=20236186;refseq.end_4=20236186;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1358;refseq.mrnaCoord_2=917;refseq.mrnaCoord_3=908;refseq.mrnaCoord_4=1349;refseq.name2_1=GP2;refseq.name2_2=GP2;refseq.name2_3=GP2;refseq.name2_4=GP2;refseq.name_1=NM_001007240;refseq.name_2=NM_001007241;refseq.name_3=NM_001007242;refseq.name_4=NM_001502;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q425Q;refseq.proteinCoordStr_2=p.Q278Q;refseq.proteinCoordStr_3=p.Q275Q;refseq.proteinCoordStr_4=p.Q422Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.start_1=20236186;refseq.start_2=20236186;refseq.start_3=20236186;refseq.start_4=20236186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/0 chr16 20242897 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_3=c.277T>G;refseq.codingCoordStr_4=c.277T>G;refseq.codonCoord_3=93;refseq.codonCoord_4=93;refseq.end_1=20245150;refseq.end_2=20245150;refseq.end_3=20242897;refseq.end_4=20242897;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=360;refseq.mrnaCoord_4=360;refseq.name2_1=GP2;refseq.name2_2=GP2;refseq.name2_3=GP2;refseq.name2_4=GP2;refseq.name_1=NM_001007242;refseq.name_2=NM_001007241;refseq.name_3=NM_001007240;refseq.name_4=NM_001502;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.Y93D;refseq.proteinCoordStr_4=p.Y93D;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_3=183;refseq.spliceDist_4=183;refseq.start_1=20241813;refseq.start_2=20242223;refseq.start_3=20242897;refseq.start_4=20242897;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 0/1 chr16 20260119 . C A 109.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.75;MQ0=0;OQ=4217.42;QD=16.28;RankSumP=0.00485860;SB=-1563.75;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1372G>T;refseq.codingCoordStr_2=c.1372G>T;refseq.codonCoord_1=458;refseq.codonCoord_2=458;refseq.end_1=20260119;refseq.end_2=20260119;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1438;refseq.mrnaCoord_2=1501;refseq.name2_1=UMOD;refseq.name2_2=UMOD;refseq.name_1=NM_001008389;refseq.name_2=NM_003361;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V458L;refseq.proteinCoordStr_2=p.V458L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=20260119;refseq.start_2=20260119;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=filterInsoap-gatk GT 1/0 chr16 20267602 . G A 60.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=88.51;MQ0=0;OQ=88.90;QD=22.22;RankSumP=1.00000;SB=-54.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.522C>T;refseq.codingCoordStr_2=c.522C>T;refseq.codonCoord_1=174;refseq.codonCoord_2=174;refseq.end_1=20267602;refseq.end_2=20267602;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=588;refseq.mrnaCoord_2=651;refseq.name2_1=UMOD;refseq.name2_2=UMOD;refseq.name_1=NM_001008389;refseq.name_2=NM_003361;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C174C;refseq.proteinCoordStr_2=p.C174C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-344;refseq.spliceDist_2=-344;refseq.start_1=20267602;refseq.start_2=20267602;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=filterInsoap-gatk GT 1/1 chr16 20278311 . C T 342.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=98.99;MQ0=0;OQ=5202.64;QD=21.50;RankSumP=0.186493;SB=-2103.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1586G>A;refseq.codonCoord=529;refseq.end=20278311;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1809;refseq.name=NM_174924;refseq.name2=PDILT;refseq.positionType=CDS;refseq.proteinCoordStr=p.G529E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=80;refseq.start=20278311;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr16 20278317 . C T 130.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=10.86;MQ=99.00;MQ0=0;OQ=5076.77;QD=21.79;RankSumP=0.287780;SB=-2124.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1580G>A;refseq.codonCoord=527;refseq.end=20278317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1803;refseq.name=NM_174924;refseq.name2=PDILT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R527K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=74;refseq.start=20278317;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr16 20284256 . T C 217.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=13.16;MQ=98.80;MQ0=0;OQ=9549.48;QD=19.21;RankSumP=0.412278;SB=-4037.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1224A>G;refseq.codonCoord=408;refseq.end=20284256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1447;refseq.name=NM_174924;refseq.name2=PDILT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V408V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-14;refseq.start=20284256;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 20342798 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.827T>G;refseq.codonCoord=276;refseq.end=20342798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_017888;refseq.name2=ACSM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V276G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=60;refseq.start=20342798;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 20348521 . G A 112.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=428;Dels=0.00;HRun=1;HaplotypeScore=8.44;MQ=49.49;MQ0=88;OQ=6922.48;QD=16.17;RankSumP=0.358648;SB=-1984.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1022G>A;refseq.codonCoord=341;refseq.end=20348521;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_017888;refseq.name2=ACSM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R341K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=21;refseq.start=20348521;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr16 20348554 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=6.38;MQ=43.99;MQ0=130;OQ=3055.11;QD=10.57;RankSumP=0.396617;SB=-884.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1055C>G;refseq.codonCoord=352;refseq.end=20348554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1202;refseq.name=NM_017888;refseq.name2=ACSM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P352R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=54;refseq.start=20348554;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr16 20348578 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=45.23;MQ0=108;OQ=618.25;QD=3.82;RankSumP=0.374714;SB=-252.51;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1079A>G;refseq.codonCoord=360;refseq.end=20348578;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1226;refseq.name=NM_017888;refseq.name2=ACSM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H360R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-47;refseq.start=20348578;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr16 20348585 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=43.93;MQ0=99;OQ=1369.49;QD=9.78;RankSumP=1.00000;SB=-613.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1086T>C;refseq.codonCoord=362;refseq.end=20348585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_017888;refseq.name2=ACSM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T362T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-40;refseq.start=20348585;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr16 20378937 . T C 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.171429;SecondBestBaseQ=34;refseq.chr=chr16;refseq.codingCoordStr=c.-1T>C;refseq.end=20378937;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=239;refseq.name=NM_001010845;refseq.name2=ACSM2A;refseq.positionType=utr5;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=20378937;refseq.transcriptStrand=+;set=soap GT 1/0 chr16 20384353 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=3;HaplotypeScore=3.90;MQ=30.30;MQ0=125;OQ=1100.95;QD=5.00;RankSumP=0.116447;SB=-376.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.191T>C;refseq.codonCoord=64;refseq.end=20384353;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_001010845;refseq.name2=ACSM2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L64P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=14;refseq.start=20384353;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr16 20396197 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=808;Dels=0.00;HRun=0;HaplotypeScore=30.43;MQ=11.73;MQ0=793;OQ=193.79;QD=0.24;RankSumP=0.128459;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1104A>G;refseq.codonCoord=368;refseq.end=20396197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_001010845;refseq.name2=ACSM2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L368L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=20396197;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap-filterIngatk GT 0/1 chr16 20459576 . G T 164.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=431;Dels=0.00;HRun=0;HaplotypeScore=11.27;MQ=87.33;MQ0=16;OQ=15399.95;QD=35.73;RankSumP=1.00000;SB=-7685.37;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1530C>A;refseq.codingCoordStr_2=c.1530C>A;refseq.codonCoord_1=510;refseq.codonCoord_2=510;refseq.end_1=20459576;refseq.end_2=20459576;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1705;refseq.mrnaCoord_2=1740;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I510I;refseq.proteinCoordStr_2=p.I510I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=20459576;refseq.start_2=20459576;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr16 20461961 . C A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.833333;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1406G>T;refseq.codingCoordStr_2=c.1406G>T;refseq.codonCoord_1=469;refseq.codonCoord_2=469;refseq.end_1=20461961;refseq.end_2=20461961;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1581;refseq.mrnaCoord_2=1616;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S469I;refseq.proteinCoordStr_2=p.S469I;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=20461961;refseq.start_2=20461961;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT 1/0 chr16 20461999 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.666667;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1368C>T;refseq.codingCoordStr_2=c.1368C>T;refseq.codonCoord_1=456;refseq.codonCoord_2=456;refseq.end_1=20461999;refseq.end_2=20461999;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1543;refseq.mrnaCoord_2=1578;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F456F;refseq.proteinCoordStr_2=p.F456F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=20461999;refseq.start_2=20461999;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr16 20462083 . T G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1284A>C;refseq.codingCoordStr_2=c.1284A>C;refseq.codonCoord_1=428;refseq.codonCoord_2=428;refseq.end_1=20462083;refseq.end_2=20462083;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1459;refseq.mrnaCoord_2=1494;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E428D;refseq.proteinCoordStr_2=p.E428D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=20462083;refseq.start_2=20462083;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr16 20465292 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.333170;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1104A>G;refseq.codingCoordStr_2=c.1104A>G;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.end_1=20465292;refseq.end_2=20465292;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1279;refseq.mrnaCoord_2=1314;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L368L;refseq.proteinCoordStr_2=p.L368L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=20465292;refseq.start_2=20465292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=soap GT 1/0 chr16 20478162 . T C 1 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=15.11;MQ0=53;OQ=68.99;QD=1.01;RankSumP=0.416667;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.286A>G;refseq.codingCoordStr_2=c.286A>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=20478162;refseq.end_2=20478162;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=461;refseq.mrnaCoord_2=496;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I96V;refseq.proteinCoordStr_2=p.I96V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=20478162;refseq.start_2=20478162;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr16 20483669 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.438509;SecondBestBaseQ=34;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.-1C>T;refseq.codingCoordStr_2=c.-1C>T;refseq.end_1=20483669;refseq.end_2=20483669;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=175;refseq.mrnaCoord_2=210;refseq.name2_1=ACSM2B;refseq.name2_2=ACSM2B;refseq.name_1=NM_001105069;refseq.name_2=NM_182617;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=20483669;refseq.start_2=20483669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 1/0 chr16 20655747 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1018C>A;refseq.codonCoord=340;refseq.end=20655747;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_017736;refseq.name2=THUMPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q340K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=363;refseq.start=20655747;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr16 20656529 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr16;refseq.codingCoordStr=c.655+2;refseq.end=20656529;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_017736;refseq.name2=THUMPD1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=20656529;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr16 20719182 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=3;HaplotypeScore=6.46;MQ=98.69;MQ0=0;OQ=6379.42;QD=18.33;RankSumP=0.146068;SB=-2518.90;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.504G>A;refseq.codingCoordStr_2=c.504G>A;refseq.codonCoord_1=168;refseq.codonCoord_2=168;refseq.end_1=20719182;refseq.end_2=20719182;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=547;refseq.mrnaCoord_2=547;refseq.name2_1=ERI2;refseq.name2_2=ERI2;refseq.name_1=NM_001142725;refseq.name_2=NM_080663;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K168K;refseq.proteinCoordStr_2=p.K168K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=20719182;refseq.start_2=20719182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr16 20762810 . A G 290.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=98.91;MQ0=0;OQ=8277.38;QD=19.61;RankSumP=0.417909;SB=-3376.53;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1680A>G;refseq.codonCoord_2=560;refseq.end_1=20763441;refseq.end_2=20762810;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1943;refseq.name2_1=LOC81691;refseq.name2_2=LOC81691;refseq.name_1=NM_001144924;refseq.name_2=NM_030941;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E560E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-40;refseq.start_1=20759302;refseq.start_2=20762810;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr16 20781268 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=97.56;MQ0=0;OQ=1456.82;QD=12.67;RankSumP=0.288395;SB=-473.68;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.94A>C;refseq.codonCoord=32;refseq.end=20781268;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_173475;refseq.name2=DCUN1D3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=199;refseq.start=20781268;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr16 20916191 . T C 294.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=7.31;MQ=98.62;MQ0=0;OQ=8426.52;QD=18.81;RankSumP=0.0140406;SB=-3276.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.6516A>G;refseq.codonCoord=2172;refseq.end=20916191;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6516;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2172K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-86;refseq.start=20916191;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr16 20945867 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.5523T>C;refseq.codonCoord=1841;refseq.end=20945867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5523;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1841S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-18;refseq.start=20945867;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr16 20986194 . T G 199.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=331;Dels=0.00;HRun=1;HaplotypeScore=8.43;MQ=98.93;MQ0=0;OQ=5118.60;QD=15.46;RankSumP=0.371142;SB=-1570.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3429A>C;refseq.codonCoord=1143;refseq.end=20986194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3429;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1143A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=48;refseq.start=20986194;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 20986210 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3413A>C;refseq.codonCoord=1138;refseq.end=20986210;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3413;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1138A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=32;refseq.start=20986210;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 21053149 . C T 134.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=380;Dels=0.00;HRun=2;HaplotypeScore=7.14;MQ=98.90;MQ0=0;OQ=6286.92;QD=16.54;RankSumP=0.180047;SB=-1989.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1014G>A;refseq.codonCoord=338;refseq.end=21053149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1014;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K338K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-69;refseq.start=21053149;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr16 21059414 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=605;Dels=0.00;HRun=1;HaplotypeScore=10.42;MQ=98.85;MQ0=0;OQ=10749.85;QD=17.77;RankSumP=0.285740;SB=-4190.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.640C>A;refseq.codonCoord=214;refseq.end=21059414;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_017539;refseq.name2=DNAH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q214K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-57;refseq.start=21059414;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr16 21092885 . G A 308.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=534;Dels=0.00;HRun=0;HaplotypeScore=9.96;MQ=98.84;MQ0=0;OQ=11289.62;QD=21.14;RankSumP=0.0800331;SB=-3270.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.319G>A;refseq.codonCoord=107;refseq.end=21092885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_020422;refseq.name2=TMEM159;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=54;refseq.start=21092885;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr16 21098354 . A C 162.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=18.75;MQ=98.94;MQ0=0;OQ=4956.35;QD=17.33;RankSumP=0.194819;SB=-1234.64;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.462A>C;refseq.codonCoord=154;refseq.end=21098354;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_020422;refseq.name2=TMEM159;refseq.positionType=CDS;refseq.proteinCoordStr=p.E154D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=58;refseq.start=21098354;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr16 21123173 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=1.58;MQ=98.91;MQ0=0;OQ=1408.49;QD=14.08;RankSumP=0.425706;SB=-590.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.747T>C;refseq.codonCoord=249;refseq.end=21123173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_003460;refseq.name2=ZP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P249P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-44;refseq.start=21123173;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr16 21130173 . C A 290.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.20;MQ0=0;OQ=1681.42;QD=16.81;RankSumP=0.455943;SB=-797.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.107G>T;refseq.codonCoord=36;refseq.end=21130173;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_003460;refseq.name2=ZP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G36V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=45;refseq.start=21130173;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 21180092 . G C 128.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.93;MQ0=0;OQ=3188.69;QD=18.43;RankSumP=0.455213;SB=-1026.35;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.738C>G;refseq.codingCoordStr_2=c.864C>G;refseq.codonCoord_1=246;refseq.codonCoord_2=288;refseq.end_1=21180092;refseq.end_2=21180092;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=1162;refseq.name2_1=CRYM;refseq.name2_2=CRYM;refseq.name_1=NM_001014444;refseq.name_2=NM_001888;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T246T;refseq.proteinCoordStr_2=p.T288T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=21180092;refseq.start_2=21180092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr16 21186458 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.465T>G;refseq.codingCoordStr_2=c.591T>G;refseq.codonCoord_1=155;refseq.codonCoord_2=197;refseq.end_1=21186458;refseq.end_2=21186458;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=615;refseq.mrnaCoord_2=889;refseq.name2_1=CRYM;refseq.name2_2=CRYM;refseq.name_1=NM_001014444;refseq.name_2=NM_001888;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G155G;refseq.proteinCoordStr_2=p.G197G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=21186458;refseq.start_2=21186458;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 21884263 . G A 214 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=14.28;MQ=98.78;MQ0=0;OQ=6367.04;QD=18.19;RankSumP=0.434230;SB=-2567.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.548G>A;refseq.codonCoord=183;refseq.end=21884263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_003366;refseq.name2=UQCRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R183Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=34;refseq.start=21884263;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr16 22170015 . C A 408.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.57;MQ0=0;OQ=2484.94;QD=37.65;RankSumP=1.00000;SB=-1139.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.489C>A;refseq.codonCoord=163;refseq.end=22170015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_013302;refseq.name2=EEF2K;refseq.positionType=CDS;refseq.proteinCoordStr=p.G163G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=43;refseq.start=22170015;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr16 22177368 . A G 275.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=8.48;MQ=98.75;MQ0=0;OQ=12739.98;QD=37.36;RankSumP=1.00000;SB=-6111.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1082A>G;refseq.codonCoord=361;refseq.end=22177368;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1567;refseq.name=NM_013302;refseq.name2=EEF2K;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q361R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=53;refseq.start=22177368;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr16 22199036 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1906G>A;refseq.codonCoord=636;refseq.end=22199036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2391;refseq.name=NM_013302;refseq.name2=EEF2K;refseq.positionType=CDS;refseq.proteinCoordStr=p.E636K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=17;refseq.start=22199036;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr16 22733840 . A G 195.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=5.05;MQ=98.34;MQ0=0;OQ=2091.11;QD=19.01;RankSumP=0.244560;SB=-727.02;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.408A>G;refseq.codonCoord=136;refseq.end=22733840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=480;refseq.name=NM_006043;refseq.name2=HS3ST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V136V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-78;refseq.start=22733840;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr16 23267700 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=472;Dels=0.00;HRun=3;HaplotypeScore=31.97;MQ=98.36;MQ0=0;OQ=7385.76;QD=15.65;RankSumP=0.00183569;SB=-2717.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.279T>C;refseq.codonCoord=93;refseq.end=23267700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_000336;refseq.name2=SCNN1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P93P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-33;refseq.start=23267700;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/0 chr16 23299587 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.47;MQ0=0;OQ=574.47;QD=13.68;RankSumP=0.112197;SB=-214.87;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1887C>T;refseq.codonCoord=629;refseq.end=23299587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2063;refseq.name=NM_000336;refseq.name2=SCNN1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D629D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=345;refseq.start=23299587;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 23397212 . C G 65.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.49;MQ0=0;OQ=1360.01;QD=46.90;RankSumP=1.00000;SB=-523.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1270G>C;refseq.codonCoord=424;refseq.end=23397212;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1353;refseq.name=NM_015044;refseq.name2=GGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A424P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-23;refseq.start=23397212;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr16 23429144 . G C 12.86 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=74.00;MQ0=0;QD=6.43;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.90C>G;refseq.codonCoord=30;refseq.end=23429144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_015044;refseq.name2=GGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=23429144;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/1 chr16 23444185 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=5.16;MQ=98.91;MQ0=0;OQ=16849.88;QD=40.80;RankSumP=1.00000;SB=-7869.87;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1369A>G;refseq.codonCoord_2=457;refseq.end_1=23444185;refseq.end_2=23444185;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1401;refseq.mrnaCoord_2=1401;refseq.name2_1=EARS2;refseq.name2_2=EARS2;refseq.name_1=NR_003501;refseq.name_2=NM_001083614;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S457G;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=23444185;refseq.start_2=23444185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr16 23454062 . G C 323.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.10;MQ0=0;OQ=2980.92;QD=43.84;RankSumP=1.00000;SB=-766.85;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.606C>G;refseq.codonCoord_2=202;refseq.end_1=23454062;refseq.end_2=23454062;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=638;refseq.name2_1=EARS2;refseq.name2_2=EARS2;refseq.name_1=NR_003501;refseq.name_2=NM_001083614;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V202V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.start_1=23454062;refseq.start_2=23454062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr16 23471002 . C T 92.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=595;Dels=0.00;HRun=0;HaplotypeScore=7.41;MQ=98.75;MQ0=0;OQ=24211.47;QD=40.69;RankSumP=1.00000;SB=-10566.43;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.264G>A;refseq.codonCoord_2=88;refseq.end_1=23471002;refseq.end_2=23471002;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=296;refseq.name2_1=EARS2;refseq.name2_2=EARS2;refseq.name_1=NR_003501;refseq.name_2=NM_001083614;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A88A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=23471002;refseq.start_2=23471002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr16 23584507 . A G 148.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=96.74;MQ0=0;OQ=3078.88;QD=14.32;RankSumP=0.152862;SB=-1309.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.408A>G;refseq.codonCoord=136;refseq.end=23584507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_032486;refseq.name2=DCTN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P136P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-44;refseq.start=23584507;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr16 23619426 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=2;HaplotypeScore=20.42;MQ=98.58;MQ0=0;OQ=2235.45;QD=13.47;RankSumP=0.0888723;SB=-589.50;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1604G>C;refseq.codonCoord=535;refseq.end=23619426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1773;refseq.name=NM_033266;refseq.name2=ERN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S535T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-66;refseq.start=23619426;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr16 23629781 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=561;Dels=0.00;HRun=0;HaplotypeScore=10.75;MQ=98.65;MQ0=0;OQ=11184.02;QD=19.94;RankSumP=0.416277;SB=-4674.11;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.297C>T;refseq.codonCoord=99;refseq.end=23629781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_033266;refseq.name2=ERN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H99H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-47;refseq.start=23629781;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr16 23755076 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=142;Dels=0.00;HRun=0;HaplotypeScore=9.75;MQ=97.73;MQ0=0;OQ=1606.08;QD=11.31;RankSumP=0.316971;SB=-126.68;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.79C>A;refseq.codingCoordStr_2=c.79C>A;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=23755076;refseq.end_2=23755076;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=276;refseq.mrnaCoord_2=276;refseq.name2_1=PRKCB;refseq.name2_2=PRKCB;refseq.name_1=NM_002738;refseq.name_2=NM_212535;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R27R;refseq.proteinCoordStr_2=p.R27R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-95;refseq.spliceDist_2=-95;refseq.start_1=23755076;refseq.start_2=23755076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr16 24490907 . A G 161.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.64;MQ0=0;OQ=1229.41;QD=14.64;RankSumP=0.391012;SB=-388.92;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.5019A>G;refseq.codingCoordStr_2=c.4917A>G;refseq.codonCoord_1=1673;refseq.codonCoord_2=1639;refseq.end_1=24490907;refseq.end_2=24490907;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6059;refseq.mrnaCoord_2=5957;refseq.name2_1=RBBP6;refseq.name2_2=RBBP6;refseq.name_1=NM_006910;refseq.name_2=NM_018703;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1673A;refseq.proteinCoordStr_2=p.A1639A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-778;refseq.spliceDist_2=-778;refseq.start_1=24490907;refseq.start_2=24490907;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr16 24709480 . C T 359.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=4.11;MQ=98.87;MQ0=0;OQ=5342.98;QD=19.43;RankSumP=0.0160173;SB=-1830.74;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2016C>T;refseq.codonCoord=672;refseq.end=24709480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2130;refseq.name=NM_014494;refseq.name2=TNRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S672S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1160;refseq.start=24709480;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr16 24712326 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=301;Dels=0.00;HRun=2;HaplotypeScore=25.76;MQ=98.07;MQ0=0;OQ=573.36;QD=1.90;RankSumP=0.00000;SB=417.42;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3207T>C;refseq.codonCoord=1069;refseq.end=24712326;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3321;refseq.name=NM_014494;refseq.name2=TNRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1069T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=32;refseq.start=24712326;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr16 24734042 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=185;Dels=0.00;HRun=2;HaplotypeScore=19.71;MQ=97.27;MQ0=0;OQ=563.16;QD=3.04;RankSumP=0.00000;SB=116.40;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4746A>C;refseq.codonCoord=1582;refseq.end=24734042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4860;refseq.name=NM_014494;refseq.name2=TNRC6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1582S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=74;refseq.start=24734042;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr16 24796147 . T C 128.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.61;MQ0=0;OQ=1433.18;QD=13.03;RankSumP=0.474289;SB=-661.51;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.545T>C;refseq.codonCoord=182;refseq.end=24796147;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_052944;refseq.name2=SLC5A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V182A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-39;refseq.start=24796147;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr16 24809695 . T C 290.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=866.23;QD=36.09;RankSumP=1.00000;SB=-199.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.669T>C;refseq.codonCoord=223;refseq.end=24809695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_052944;refseq.name2=SLC5A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.F223F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=24809695;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr16 24862665 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1261G>C;refseq.codingCoordStr_2=c.1261G>C;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.end_1=24862665;refseq.end_2=24862665;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1354;refseq.mrnaCoord_2=1354;refseq.name2_1=ARHGAP17;refseq.name2_2=ARHGAP17;refseq.name_1=NM_001006634;refseq.name_2=NM_018054;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A421P;refseq.proteinCoordStr_2=p.A421P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=24862665;refseq.start_2=24862665;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr16 25147306 . G C 268.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=1;HaplotypeScore=6.76;MQ=98.63;MQ0=0;OQ=5245.72;QD=18.09;RankSumP=0.138319;SB=-1785.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.778G>C;refseq.codonCoord=260;refseq.end=25147306;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_001169;refseq.name2=AQP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A260P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=41;refseq.start=25147306;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr16 25163007 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=1527.28;QD=19.33;RankSumP=0.243440;SB=-520.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1581G>A;refseq.codonCoord=527;refseq.end=25163007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1988;refseq.name=NM_001012981;refseq.name2=ZKSCAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K527K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=92;refseq.start=25163007;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr16 25165536 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=600;Dels=0.00;HRun=1;HaplotypeScore=13.23;MQ=98.68;MQ0=0;OQ=12831.33;QD=21.39;RankSumP=0.221613;SB=-3393.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1482T>C;refseq.codonCoord=494;refseq.end=25165536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1889;refseq.name=NM_001012981;refseq.name2=ZKSCAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N494N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=25165536;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr16 25170779 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=278;Dels=0.00;HRun=1;HaplotypeScore=16.30;MQ=98.90;MQ0=0;OQ=5573.02;QD=20.05;RankSumP=0.326923;SB=-1558.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.757C>T;refseq.codonCoord=253;refseq.end=25170779;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_001012981;refseq.name2=ZKSCAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L253F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-49;refseq.start=25170779;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr16 25175869 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=3;HaplotypeScore=17.07;MQ=98.78;MQ0=0;OQ=5739.18;QD=17.82;RankSumP=0.208484;SB=-1644.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.81T>C;refseq.codonCoord=27;refseq.end=25175869;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_001012981;refseq.name2=ZKSCAN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-319;refseq.start=25175869;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr16 27281901 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=133;Dels=0.00;HRun=2;HaplotypeScore=6.99;MQ=98.88;MQ0=0;OQ=1014.06;QD=7.62;RankSumP=0.309675;SB=-480.41;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1727A>G;refseq.codonCoord=576;refseq.end=27281901;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1969;refseq.name=NM_000418;refseq.name2=IL4R;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q576R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=828;refseq.start=27281901;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr16 27356395 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.238A>C;refseq.codingCoordStr_2=c.238A>C;refseq.codingCoordStr_3=c.238A>C;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.codonCoord_3=80;refseq.end_1=27356395;refseq.end_2=27356395;refseq.end_3=27356395;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=471;refseq.mrnaCoord_3=373;refseq.name2_1=IL21R;refseq.name2_2=IL21R;refseq.name2_3=IL21R;refseq.name_1=NM_021798;refseq.name_2=NM_181078;refseq.name_3=NM_181079;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T80P;refseq.proteinCoordStr_2=p.T80P;refseq.proteinCoordStr_3=p.T80P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.spliceDist_3=86;refseq.start_1=27356395;refseq.start_2=27356395;refseq.start_3=27356395;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr16 27622783 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1352T>G;refseq.codonCoord=451;refseq.end=27622783;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1376;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.V451G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-38;refseq.start=27622783;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 27640404 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1630A>C;refseq.codonCoord=544;refseq.end=27640404;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.T544P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=25;refseq.start=27640404;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 27659261 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=2.32241e-05;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2142T>C;refseq.codonCoord=714;refseq.end=27659261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2166;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.A714A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=399;refseq.start=27659261;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 27668541 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=98.98;MQ0=0;OQ=705.42;QD=10.53;RankSumP=0.362269;SB=-305.89;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2759C>T;refseq.codonCoord=920;refseq.end=27668541;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2783;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.P920L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=136;refseq.start=27668541;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 27668845 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3063A>C;refseq.codonCoord=1021;refseq.end=27668845;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3087;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1021F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-284;refseq.start=27668845;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chr16 27680322 . C T 259.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.78;MQ0=0;OQ=4116.57;QD=18.21;RankSumP=0.00464439;SB=-1529.08;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3719C>T;refseq.codonCoord=1240;refseq.end=27680322;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3743;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1240V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=88;refseq.start=27680322;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=filterInsoap-gatk GT 0/1 chr16 27680402 . G A 403.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.74;MQ0=0;OQ=8493.89;QD=40.64;RankSumP=1.00000;SB=-3442.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3799G>A;refseq.codonCoord=1267;refseq.end=27680402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3823;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1267T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-11;refseq.start=27680402;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr16 27696491 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=550;Dels=0.00;HRun=0;HaplotypeScore=34.18;MQ=98.51;MQ0=0;OQ=8591.95;QD=15.62;RankSumP=0.202279;SB=-2762.43;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4611G>A;refseq.codonCoord=1537;refseq.end=27696491;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4635;refseq.name=NM_015202;refseq.name2=KIAA0556;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1537V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=60;refseq.start=27696491;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr16 28052737 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1462C>G;refseq.codonCoord=488;refseq.end=28052737;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1963;refseq.name=NM_015171;refseq.name2=XPO6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R488G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=19;refseq.start=28052737;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 28310856 . C G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.134168;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.885G>C;refseq.codingCoordStr_2=c.885G>C;refseq.codingCoordStr_3=c.885G>C;refseq.codonCoord_1=295;refseq.codonCoord_2=295;refseq.codonCoord_3=295;refseq.end_1=28310856;refseq.end_2=28310856;refseq.end_3=28310856;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=974;refseq.mrnaCoord_3=973;refseq.name2_1=EIF3C;refseq.name2_2=EIF3CL;refseq.name2_3=EIF3C;refseq.name_1=NM_001037808;refseq.name_2=NM_001099661;refseq.name_3=NM_003752;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E295D;refseq.proteinCoordStr_2=p.E295D;refseq.proteinCoordStr_3=p.E295D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.start_1=28310856;refseq.start_2=28310856;refseq.start_3=28310856;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=FilteredInAll GT 1/0 chr16 28310868 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.170536;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.873G>T;refseq.codingCoordStr_2=c.873G>T;refseq.codingCoordStr_3=c.873G>T;refseq.codonCoord_1=291;refseq.codonCoord_2=291;refseq.codonCoord_3=291;refseq.end_1=28310868;refseq.end_2=28310868;refseq.end_3=28310868;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1010;refseq.mrnaCoord_2=962;refseq.mrnaCoord_3=961;refseq.name2_1=EIF3C;refseq.name2_2=EIF3CL;refseq.name2_3=EIF3C;refseq.name_1=NM_001037808;refseq.name_2=NM_001099661;refseq.name_3=NM_003752;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E291D;refseq.proteinCoordStr_2=p.E291D;refseq.proteinCoordStr_3=p.E291D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=28310868;refseq.start_2=28310868;refseq.start_3=28310868;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=soap GT 1/0 chr16 28457009 . G A 154.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=99.00;MQ0=0;OQ=817.56;QD=16.35;RankSumP=0.367579;SB=-45.65;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.135C>T;refseq.codonCoord_2=45;refseq.end_1=28457607;refseq.end_2=28457009;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=402;refseq.name2_1=NUPR1;refseq.name2_2=NUPR1;refseq.name_1=NM_012385;refseq.name_2=NM_001042483;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P45P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=23;refseq.start_1=28456988;refseq.start_2=28457009;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr16 28510492 . A G 144.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=2.28;MQ=98.42;MQ0=0;OQ=2163.12;QD=13.52;RankSumP=0.364075;SB=-1012.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.846A>G;refseq.codonCoord=282;refseq.end=28510492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_138414;refseq.name2=CCDC101;refseq.positionType=CDS;refseq.proteinCoordStr=p.R282R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=81;refseq.start=28510492;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr16 28510513 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.56;MQ0=0;OQ=1929.70;QD=13.40;RankSumP=0.0384481;SB=-890.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.867A>G;refseq.codonCoord=289;refseq.end=28510513;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_138414;refseq.name2=CCDC101;refseq.positionType=CDS;refseq.proteinCoordStr=p.E289E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-99;refseq.start=28510513;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr16 28510894 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=10.48;MQ=56.55;MQ0=88;OQ=2871.74;QD=15.11;RankSumP=1.00000;SB=-387.83;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.844A>G;refseq.codingCoordStr_2=c.844A>G;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.end_1=28510894;refseq.end_2=28510894;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=922;refseq.mrnaCoord_2=1195;refseq.name2_1=SULT1A2;refseq.name2_2=SULT1A2;refseq.name_1=NM_001054;refseq.name_2=NM_177528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K282E;refseq.proteinCoordStr_2=p.K282E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.start_1=28510894;refseq.start_2=28510894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr16 28514697 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=30.32;MQ0=143;OQ=1267.18;QD=4.87;RankSumP=0.570235;SB=-592.43;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.56C>T;refseq.codingCoordStr_2=c.56C>T;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=28514697;refseq.end_2=28514697;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=134;refseq.mrnaCoord_2=407;refseq.name2_1=SULT1A2;refseq.name2_2=SULT1A2;refseq.name_1=NM_001054;refseq.name_2=NM_177528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P19L;refseq.proteinCoordStr_2=p.P19L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=28514697;refseq.start_2=28514697;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr16 28524914 . A G 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.654106;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.739T>C;refseq.codingCoordStr_2=c.739T>C;refseq.codingCoordStr_3=c.739T>C;refseq.codingCoordStr_4=c.739T>C;refseq.codingCoordStr_5=c.505T>C;refseq.codonCoord_1=247;refseq.codonCoord_2=247;refseq.codonCoord_3=247;refseq.codonCoord_4=247;refseq.codonCoord_5=169;refseq.end_1=28524914;refseq.end_2=28524914;refseq.end_3=28524914;refseq.end_4=28524914;refseq.end_5=28524914;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=849;refseq.mrnaCoord_2=880;refseq.mrnaCoord_3=1013;refseq.mrnaCoord_4=1212;refseq.mrnaCoord_5=853;refseq.name2_1=SULT1A1;refseq.name2_2=SULT1A1;refseq.name2_3=SULT1A1;refseq.name2_4=SULT1A1;refseq.name2_5=SULT1A1;refseq.name_1=NM_001055;refseq.name_2=NM_177529;refseq.name_3=NM_177530;refseq.name_4=NM_177534;refseq.name_5=NM_177536;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.F247L;refseq.proteinCoordStr_2=p.F247L;refseq.proteinCoordStr_3=p.F247L;refseq.proteinCoordStr_4=p.F247L;refseq.proteinCoordStr_5=p.F169L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceAA_5=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.referenceCodon_5=TTC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.spliceDist_5=-37;refseq.start_1=28524914;refseq.start_2=28524914;refseq.start_3=28524914;refseq.start_4=28524914;refseq.start_5=28524914;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_5=CTC;set=soap GT 0/1 chr16 28524986 . C T 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=566;Dels=0.00;HRun=0;HaplotypeScore=16.10;MQ=29.85;MQ0=407;OQ=4034.22;QD=7.13;RankSumP=1.00000;SB=-860.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.667G>A;refseq.codingCoordStr_2=c.667G>A;refseq.codingCoordStr_3=c.667G>A;refseq.codingCoordStr_4=c.667G>A;refseq.codingCoordStr_5=c.433G>A;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.codonCoord_3=223;refseq.codonCoord_4=223;refseq.codonCoord_5=145;refseq.end_1=28524986;refseq.end_2=28524986;refseq.end_3=28524986;refseq.end_4=28524986;refseq.end_5=28524986;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=777;refseq.mrnaCoord_2=808;refseq.mrnaCoord_3=941;refseq.mrnaCoord_4=1140;refseq.mrnaCoord_5=781;refseq.name2_1=SULT1A1;refseq.name2_2=SULT1A1;refseq.name2_3=SULT1A1;refseq.name2_4=SULT1A1;refseq.name2_5=SULT1A1;refseq.name_1=NM_001055;refseq.name_2=NM_177529;refseq.name_3=NM_177530;refseq.name_4=NM_177534;refseq.name_5=NM_177536;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V223M;refseq.proteinCoordStr_2=p.V223M;refseq.proteinCoordStr_3=p.V223M;refseq.proteinCoordStr_4=p.V223M;refseq.proteinCoordStr_5=p.V145M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.spliceDist_4=73;refseq.spliceDist_5=73;refseq.start_1=28524986;refseq.start_2=28524986;refseq.start_3=28524986;refseq.start_4=28524986;refseq.start_5=28524986;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;set=Intersection GT 1/1 chr16 28620012 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.111411;SecondBestBaseQ=32;set=soap GT 1/0 chr16 28749812 . A G 228.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.03;MQ0=0;OQ=1191.08;QD=37.22;RankSumP=1.00000;SB=-279.78;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1239A>G;refseq.codingCoordStr_2=c.1239A>G;refseq.codingCoordStr_3=c.1239A>G;refseq.codingCoordStr_4=c.1239A>G;refseq.codingCoordStr_5=c.1239A>G;refseq.codonCoord_1=413;refseq.codonCoord_2=413;refseq.codonCoord_3=413;refseq.codonCoord_4=413;refseq.codonCoord_5=413;refseq.end_1=28749812;refseq.end_2=28749812;refseq.end_3=28749812;refseq.end_4=28749812;refseq.end_5=28749812;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=1406;refseq.mrnaCoord_3=1406;refseq.mrnaCoord_4=1406;refseq.mrnaCoord_5=1406;refseq.name2_1=ATXN2L;refseq.name2_2=ATXN2L;refseq.name2_3=ATXN2L;refseq.name2_4=ATXN2L;refseq.name2_5=ATXN2L;refseq.name_1=NM_007245;refseq.name_2=NM_145714;refseq.name_3=NM_148414;refseq.name_4=NM_148415;refseq.name_5=NM_148416;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q413Q;refseq.proteinCoordStr_2=p.Q413Q;refseq.proteinCoordStr_3=p.Q413Q;refseq.proteinCoordStr_4=p.Q413Q;refseq.proteinCoordStr_5=p.Q413Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.spliceDist_5=29;refseq.start_1=28749812;refseq.start_2=28749812;refseq.start_3=28749812;refseq.start_4=28749812;refseq.start_5=28749812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;set=Intersection GT 1/1 chr16 28751112 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1407G>C;refseq.codingCoordStr_2=c.1407G>C;refseq.codingCoordStr_3=c.1407G>C;refseq.codingCoordStr_4=c.1407G>C;refseq.codingCoordStr_5=c.1407G>C;refseq.codonCoord_1=469;refseq.codonCoord_2=469;refseq.codonCoord_3=469;refseq.codonCoord_4=469;refseq.codonCoord_5=469;refseq.end_1=28751112;refseq.end_2=28751112;refseq.end_3=28751112;refseq.end_4=28751112;refseq.end_5=28751112;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1574;refseq.mrnaCoord_2=1574;refseq.mrnaCoord_3=1574;refseq.mrnaCoord_4=1574;refseq.mrnaCoord_5=1574;refseq.name2_1=ATXN2L;refseq.name2_2=ATXN2L;refseq.name2_3=ATXN2L;refseq.name2_4=ATXN2L;refseq.name2_5=ATXN2L;refseq.name_1=NM_007245;refseq.name_2=NM_145714;refseq.name_3=NM_148414;refseq.name_4=NM_148415;refseq.name_5=NM_148416;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S469S;refseq.proteinCoordStr_2=p.S469S;refseq.proteinCoordStr_3=p.S469S;refseq.proteinCoordStr_4=p.S469S;refseq.proteinCoordStr_5=p.S469S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.spliceDist_3=86;refseq.spliceDist_4=86;refseq.spliceDist_5=86;refseq.start_1=28751112;refseq.start_2=28751112;refseq.start_3=28751112;refseq.start_4=28751112;refseq.start_5=28751112;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;set=FilteredInAll GT 0/1 chr16 28806294 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=517;Dels=0.00;HRun=1;HaplotypeScore=31.29;MQ=98.63;MQ0=0;OQ=7386.36;QD=14.29;RankSumP=0.162337;SB=-1655.29;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.678T>C;refseq.codingCoordStr_2=c.678T>C;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=28806294;refseq.end_2=28806294;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=862;refseq.name2_1=ATP2A1;refseq.name2_2=ATP2A1;refseq.name_1=NM_004320;refseq.name_2=NM_173201;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T226T;refseq.proteinCoordStr_2=p.T226T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=28806294;refseq.start_2=28806294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr16 28823028 . G A 337.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=1;HaplotypeScore=2.18;MQ=98.95;MQ0=0;OQ=6039.93;QD=42.53;RankSumP=1.00000;SB=-2973.12;SecondBestBaseQ=0;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.*64G>A;refseq.codingCoordStr_2=c.*1G>A;refseq.end_1=28823028;refseq.end_2=28823028;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3233;refseq.mrnaCoord_2=3191;refseq.name2_1=ATP2A1;refseq.name2_2=ATP2A1;refseq.name_1=NM_004320;refseq.name_2=NM_173201;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=28823028;refseq.start_2=28823028;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr16 28851897 . C G 276.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=99.00;MQ0=0;OQ=4074.88;QD=46.84;RankSumP=1.00000;SB=-1689.27;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.520C>G;refseq.codonCoord=174;refseq.end=28851897;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_001770;refseq.name2=CD19;refseq.positionType=CDS;refseq.proteinCoordStr=p.L174V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-40;refseq.start=28851897;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr16 28852201 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=7.35;MQ=98.95;MQ0=0;OQ=1810.88;QD=13.12;RankSumP=0.00514568;SB=-739.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.705G>T;refseq.codonCoord=235;refseq.end=28852201;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_001770;refseq.name2=CD19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P235P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-131;refseq.start=28852201;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 0/1 chr16 28898272 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.642A>G;refseq.codingCoordStr_2=c.576A>G;refseq.codingCoordStr_3=c.423A>G;refseq.codingCoordStr_4=c.642A>G;refseq.codingCoordStr_5=c.642A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=192;refseq.codonCoord_3=141;refseq.codonCoord_4=214;refseq.codonCoord_5=214;refseq.end_1=28898272;refseq.end_2=28898272;refseq.end_3=28898272;refseq.end_4=28898272;refseq.end_5=28898272;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=782;refseq.mrnaCoord_2=953;refseq.mrnaCoord_3=932;refseq.mrnaCoord_4=1019;refseq.mrnaCoord_5=1019;refseq.name2_1=SPNS1;refseq.name2_2=SPNS1;refseq.name2_3=SPNS1;refseq.name2_4=SPNS1;refseq.name2_5=SPNS1;refseq.name_1=NM_001142448;refseq.name_2=NM_001142449;refseq.name_3=NM_001142450;refseq.name_4=NM_001142451;refseq.name_5=NM_032038;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G214G;refseq.proteinCoordStr_2=p.G192G;refseq.proteinCoordStr_3=p.G141G;refseq.proteinCoordStr_4=p.G214G;refseq.proteinCoordStr_5=p.G214G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.spliceDist_5=-22;refseq.start_1=28898272;refseq.start_2=28898272;refseq.start_3=28898272;refseq.start_4=28898272;refseq.start_5=28898272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr16 28905498 . G A 320.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=98.57;MQ0=0;OQ=5933.54;QD=20.05;RankSumP=0.00928995;SB=-2386.70;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.360G>A;refseq.codingCoordStr_2=c.357G>A;refseq.codingCoordStr_3=c.468G>A;refseq.codingCoordStr_4=c.447G>A;refseq.codonCoord_1=120;refseq.codonCoord_2=119;refseq.codonCoord_3=156;refseq.codonCoord_4=149;refseq.end_1=28905498;refseq.end_2=28905498;refseq.end_3=28905498;refseq.end_4=28905498;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=712;refseq.mrnaCoord_2=709;refseq.mrnaCoord_3=504;refseq.mrnaCoord_4=799;refseq.name2_1=LAT;refseq.name2_2=LAT;refseq.name2_3=LAT;refseq.name2_4=LAT;refseq.name_1=NM_001014987;refseq.name_2=NM_001014988;refseq.name_3=NM_001014989;refseq.name_4=NM_014387;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A120A;refseq.proteinCoordStr_2=p.A119A;refseq.proteinCoordStr_3=p.A156A;refseq.proteinCoordStr_4=p.A149A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=-39;refseq.start_1=28905498;refseq.start_2=28905498;refseq.start_3=28905498;refseq.start_4=28905498;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=filterInsoap-gatk GT 1/0 chr16 28905640 . A C 43.51 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=232;Dels=0.00;HRun=4;HaplotypeScore=32.39;MQ=98.83;MQ0=0;QD=0.19;RankSumP=0.00000;SB=432.40;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.418A>C;refseq.codingCoordStr_2=c.415A>C;refseq.codingCoordStr_3=c.526A>C;refseq.codingCoordStr_4=c.505A>C;refseq.codonCoord_1=140;refseq.codonCoord_2=139;refseq.codonCoord_3=176;refseq.codonCoord_4=169;refseq.end_1=28905640;refseq.end_2=28905640;refseq.end_3=28905640;refseq.end_4=28905640;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=770;refseq.mrnaCoord_2=767;refseq.mrnaCoord_3=562;refseq.mrnaCoord_4=857;refseq.name2_1=LAT;refseq.name2_2=LAT;refseq.name2_3=LAT;refseq.name2_4=LAT;refseq.name_1=NM_001014987;refseq.name_2=NM_001014988;refseq.name_3=NM_001014989;refseq.name_4=NM_014387;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T140P;refseq.proteinCoordStr_2=p.T139P;refseq.proteinCoordStr_3=p.T176P;refseq.proteinCoordStr_4=p.T169P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.spliceDist_4=20;refseq.start_1=28905640;refseq.start_2=28905640;refseq.start_3=28905640;refseq.start_4=28905640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr16 29383045 rs2230714 A G 0.30 PASS AC=2;AF=1.00;AN=2;DB;DP=698;Dels=0.00;HRun=0;HaplotypeScore=9.29;MQ=1.60;MQ0=695;OQ=75.00;QD=0.11;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.658A>G;refseq.codingCoordStr_2=c.658A>G;refseq.codingCoordStr_3=c.658A>G;refseq.codingCoordStr_4=c.658A>G;refseq.codonCoord_1=220;refseq.codonCoord_2=220;refseq.codonCoord_3=220;refseq.codonCoord_4=220;refseq.end_1=29383045;refseq.end_2=29383045;refseq.end_3=29383045;refseq.end_4=29383045;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=958;refseq.mrnaCoord_2=775;refseq.mrnaCoord_3=958;refseq.mrnaCoord_4=775;refseq.name2_1=SULT1A4;refseq.name2_2=SULT1A4;refseq.name2_3=SULT1A3;refseq.name2_4=SULT1A3;refseq.name_1=NM_001017389;refseq.name_2=NM_001017390;refseq.name_3=NM_003166;refseq.name_4=NM_177552;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M220V;refseq.proteinCoordStr_2=p.M220V;refseq.proteinCoordStr_3=p.M220V;refseq.proteinCoordStr_4=p.M220V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.spliceDist_4=64;refseq.start_1=29383045;refseq.start_2=29383045;refseq.start_3=29383045;refseq.start_4=29383045;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=gatk GT:AD:DP:GL:GQ 1/1:640,57:3:-10.99,-0.90,-0.00:9.03 chr16 29583429 . C T 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.99;MQ0=0;OQ=158.97;QD=5.30;RankSumP=0.492087;SB=-0.98;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.879C>T;refseq.codingCoordStr_2=c.879C>T;refseq.codonCoord_1=293;refseq.codonCoord_2=293;refseq.end_1=29583429;refseq.end_2=29583429;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1015;refseq.mrnaCoord_2=971;refseq.name2_1=SPN;refseq.name2_2=SPN;refseq.name_1=NM_001030288;refseq.name_2=NM_003123;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G293G;refseq.proteinCoordStr_2=p.G293G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=913;refseq.spliceDist_2=913;refseq.start_1=29583429;refseq.start_2=29583429;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr16 29615851 . A G 209.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=10.89;MQ=95.16;MQ0=0;OQ=923.55;QD=18.11;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.583A>G;refseq.codonCoord=195;refseq.end=29615851;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_014298;refseq.name2=QPRT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T195A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=34;refseq.start=29615851;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr16 29732627 . T C 218.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=98.54;MQ0=0;OQ=3642.31;QD=36.06;RankSumP=1.00000;SB=-487.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.751T>C;refseq.codonCoord=251;refseq.end=29732627;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_145239;refseq.name2=PRRT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L251L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-129;refseq.start=29732627;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 29804445 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.1125A>C;refseq.codingCoordStr_2=c.993A>C;refseq.codingCoordStr_3=c.1125A>C;refseq.codingCoordStr_4=c.1335A>C;refseq.codonCoord_1=375;refseq.codonCoord_2=331;refseq.codonCoord_3=375;refseq.codonCoord_4=445;refseq.end_1=29804445;refseq.end_2=29804445;refseq.end_3=29804445;refseq.end_4=29804445;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1365;refseq.mrnaCoord_2=1233;refseq.mrnaCoord_3=1365;refseq.mrnaCoord_4=1575;refseq.name2_1=SEZ6L2;refseq.name2_2=SEZ6L2;refseq.name2_3=SEZ6L2;refseq.name2_4=SEZ6L2;refseq.name_1=NM_001114099;refseq.name_2=NM_001114100;refseq.name_3=NM_012410;refseq.name_4=NM_201575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T375T;refseq.proteinCoordStr_2=p.T331T;refseq.proteinCoordStr_3=p.T375T;refseq.proteinCoordStr_4=p.T445T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=-38;refseq.start_1=29804445;refseq.start_2=29804445;refseq.start_3=29804445;refseq.start_4=29804445;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chr16 29806556 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.913A>C;refseq.codingCoordStr_2=c.781A>C;refseq.codingCoordStr_3=c.913A>C;refseq.codingCoordStr_4=c.1123A>C;refseq.codonCoord_1=305;refseq.codonCoord_2=261;refseq.codonCoord_3=305;refseq.codonCoord_4=375;refseq.end_1=29806556;refseq.end_2=29806556;refseq.end_3=29806556;refseq.end_4=29806556;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1153;refseq.mrnaCoord_2=1021;refseq.mrnaCoord_3=1153;refseq.mrnaCoord_4=1363;refseq.name2_1=SEZ6L2;refseq.name2_2=SEZ6L2;refseq.name2_3=SEZ6L2;refseq.name2_4=SEZ6L2;refseq.name_1=NM_001114099;refseq.name_2=NM_001114100;refseq.name_3=NM_012410;refseq.name_4=NM_201575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T305P;refseq.proteinCoordStr_2=p.T261P;refseq.proteinCoordStr_3=p.T305P;refseq.proteinCoordStr_4=p.T375P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.spliceDist_3=84;refseq.spliceDist_4=84;refseq.start_1=29806556;refseq.start_2=29806556;refseq.start_3=29806556;refseq.start_4=29806556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr16 29806625 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.844A>C;refseq.codingCoordStr_2=c.712A>C;refseq.codingCoordStr_3=c.844A>C;refseq.codingCoordStr_4=c.1054A>C;refseq.codonCoord_1=282;refseq.codonCoord_2=238;refseq.codonCoord_3=282;refseq.codonCoord_4=352;refseq.end_1=29806625;refseq.end_2=29806625;refseq.end_3=29806625;refseq.end_4=29806625;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1084;refseq.mrnaCoord_2=952;refseq.mrnaCoord_3=1084;refseq.mrnaCoord_4=1294;refseq.name2_1=SEZ6L2;refseq.name2_2=SEZ6L2;refseq.name2_3=SEZ6L2;refseq.name2_4=SEZ6L2;refseq.name_1=NM_001114099;refseq.name_2=NM_001114100;refseq.name_3=NM_012410;refseq.name_4=NM_201575;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T282P;refseq.proteinCoordStr_2=p.T238P;refseq.proteinCoordStr_3=p.T282P;refseq.proteinCoordStr_4=p.T352P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.start_1=29806625;refseq.start_2=29806625;refseq.start_3=29806625;refseq.start_4=29806625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr16 29815934 . C G 46.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=96.48;MQ0=0;OQ=950.94;QD=29.72;RankSumP=1.00000;SB=-433.17;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_3=c.221G>C;refseq.codingCoordStr_4=c.221G>C;refseq.codonCoord_3=74;refseq.codonCoord_4=74;refseq.end_1=29816664;refseq.end_2=29816664;refseq.end_3=29815934;refseq.end_4=29815934;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=461;refseq.mrnaCoord_4=461;refseq.name2_1=SEZ6L2;refseq.name2_2=SEZ6L2;refseq.name2_3=SEZ6L2;refseq.name2_4=SEZ6L2;refseq.name_1=NM_001114099;refseq.name_2=NM_012410;refseq.name_3=NM_001114100;refseq.name_4=NM_201575;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.R74P;refseq.proteinCoordStr_4=p.R74P;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=29815744;refseq.start_2=29815744;refseq.start_3=29815934;refseq.start_4=29815934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chr16 29886909 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.418A>C;refseq.codingCoordStr_2=c.418A>C;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.end_1=29886909;refseq.end_2=29886909;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=555;refseq.name2_1=TMEM219;refseq.name2_2=TMEM219;refseq.name_1=NM_001083613;refseq.name_2=NM_194280;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T140P;refseq.proteinCoordStr_2=p.T140P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=29886909;refseq.start_2=29886909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr16 29902423 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=85.39;MQ=97.07;MQ0=0;OQ=7352.94;QD=16.30;RankSumP=0.409766;SB=-1728.98;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1359C>T;refseq.codingCoordStr_2=c.1359C>T;refseq.codonCoord_1=453;refseq.codonCoord_2=453;refseq.end_1=29902423;refseq.end_2=29902423;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2142;refseq.mrnaCoord_2=2142;refseq.name2_1=TAOK2;refseq.name2_2=TAOK2;refseq.name_1=NM_004783;refseq.name_2=NM_016151;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S453S;refseq.proteinCoordStr_2=p.S453S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=29902423;refseq.start_2=29902423;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=soap-filterIngatk GT 0/1 chr16 29905091 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00465265;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1997T>C;refseq.codingCoordStr_2=c.1997T>C;refseq.codonCoord_1=666;refseq.codonCoord_2=666;refseq.end_1=29905091;refseq.end_2=29905091;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2780;refseq.mrnaCoord_2=2780;refseq.name2_1=TAOK2;refseq.name2_2=TAOK2;refseq.name_1=NM_004783;refseq.name_2=NM_016151;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L666P;refseq.proteinCoordStr_2=p.L666P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=29905091;refseq.start_2=29905091;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr16 29905701 . A G 125.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=691.79;QD=13.84;RankSumP=0.655943;SB=-364.38;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.2607A>G;refseq.codonCoord_2=869;refseq.end_1=29908404;refseq.end_2=29905701;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3390;refseq.name2_1=TAOK2;refseq.name2_2=TAOK2;refseq.name_1=NM_004783;refseq.name_2=NM_016151;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T869T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=615;refseq.start_1=29905337;refseq.start_2=29905701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr16 29914190 . A C 49 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.08492e-06;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.161T>G;refseq.codonCoord=54;refseq.end=29914190;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_003609;refseq.name2=HIRIP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V54G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-26;refseq.start=29914190;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 29924081 . G A 29.31 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=94.22;MQ0=0;QD=2.93;SB=-36.51;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.552G>A;refseq.codonCoord=184;refseq.end=29924081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_173618;refseq.name2=INO80E;refseq.positionType=CDS;refseq.proteinCoordStr=p.P184P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=39;refseq.start=29924081;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:8,2:8:-8.62,-2.41,-24.07:62.14 chr16 29926001 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=98.44;MQ0=0;OQ=813.74;QD=14.28;RankSumP=0.0663274;SB=-254.51;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.648G>A;refseq.codonCoord=216;refseq.end=29926001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_003586;refseq.name2=DOC2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q216Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=29926001;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 29928903 . C T 154.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=97.17;MQ0=0;OQ=459.93;QD=20.91;RankSumP=0.670485;SB=-88.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.142G>A;refseq.codonCoord=48;refseq.end=29928903;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_003586;refseq.name2=DOC2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G48S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-121;refseq.start=29928903;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr16 29944629 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=98.78;MQ0=0;OQ=958.24;QD=14.09;RankSumP=0.132552;SB=-297.40;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.459T>G;refseq.codonCoord=153;refseq.end=29944629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_031478;refseq.name2=FAM57B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G153G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=29944629;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr16 29949271 . G C 48 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=9.03800e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.79C>G;refseq.codonCoord=27;refseq.end=29949271;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_031478;refseq.name2=FAM57B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P27A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-47;refseq.start=29949271;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 30005131 . C T 160.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=97.51;MQ0=0;OQ=262.95;QD=14.61;RankSumP=0.750000;SB=-150.16;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1227G>A;refseq.codonCoord=409;refseq.end=30005131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_004608;refseq.name2=TBX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P409P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=130;refseq.start=30005131;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr16 30007902 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=7.49;MQ=97.23;MQ0=0;OQ=957.75;QD=13.49;RankSumP=0.330520;SB=-484.05;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.484G>A;refseq.codonCoord=162;refseq.end=30007902;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_004608;refseq.name2=TBX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G162S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=131;refseq.start=30007902;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr16 30105652 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.36;MQ0=0;OQ=701.81;QD=9.88;RankSumP=0.0381064;SB=-316.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.336A>G;refseq.codonCoord=112;refseq.end=30105652;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_007074;refseq.name2=CORO1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P112P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=15;refseq.start=30105652;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr16 30119655 rs1975350 A G 47.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=577;Dels=0.00;HRun=1;HaplotypeScore=16.71;MQ=4.12;MQ0=575;QD=0.08;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.105A>G;refseq.codingCoordStr_2=c.105A>G;refseq.codingCoordStr_3=c.105A>G;refseq.codingCoordStr_4=c.105A>G;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.codonCoord_3=35;refseq.codonCoord_4=35;refseq.end_1=30119655;refseq.end_2=30119655;refseq.end_3=30119655;refseq.end_4=30119655;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=405;refseq.mrnaCoord_2=222;refseq.mrnaCoord_3=405;refseq.mrnaCoord_4=222;refseq.name2_1=SULT1A4;refseq.name2_2=SULT1A4;refseq.name2_3=SULT1A3;refseq.name2_4=SULT1A3;refseq.name_1=NM_001017389;refseq.name_2=NM_001017390;refseq.name_3=NM_003166;refseq.name_4=NM_177552;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q35Q;refseq.proteinCoordStr_2=p.Q35Q;refseq.proteinCoordStr_3=p.Q35Q;refseq.proteinCoordStr_4=p.Q35Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.spliceDist_4=-44;refseq.start_1=30119655;refseq.start_2=30119655;refseq.start_3=30119655;refseq.start_4=30119655;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:460,114:2:-8.14,-0.60,-0.00:6.02 chr16 30301161 . G A 180.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=8.60;MQ=98.48;MQ0=0;OQ=2724.21;QD=13.42;RankSumP=0.0208751;SB=-961.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.30C>T;refseq.codonCoord=10;refseq.end=30301161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_052838;refseq.name2=SEPT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A10A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=27;refseq.start=30301161;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr16 30316266 . C T 247.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=98.77;MQ0=0;OQ=3844.91;QD=21.24;RankSumP=0.245540;SB=-758.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.194C>T;refseq.codonCoord=65;refseq.end=30316266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_152652;refseq.name2=ZNF48;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=115;refseq.start=30316266;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr16 30316888 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.816C>A;refseq.codonCoord=272;refseq.end=30316888;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_152652;refseq.name2=ZNF48;refseq.positionType=CDS;refseq.proteinCoordStr=p.D272E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=737;refseq.start=30316888;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr16 30317599 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1527A>C;refseq.codonCoord=509;refseq.end=30317599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1586;refseq.name=NM_152652;refseq.name2=ZNF48;refseq.positionType=CDS;refseq.proteinCoordStr=p.P509P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-618;refseq.start=30317599;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 30317602 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=86;Dels=0.00;HRun=2;HaplotypeScore=3.53;MQ=97.15;MQ0=0;OQ=81.74;QD=0.95;RankSumP=1.29486e-09;SB=104.33;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1530A>C;refseq.codonCoord=510;refseq.end=30317602;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1589;refseq.name=NM_152652;refseq.name2=ZNF48;refseq.positionType=CDS;refseq.proteinCoordStr=p.P510P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-615;refseq.start=30317602;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 30400324 . C T 241.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.62;MQ0=0;OQ=4290.12;QD=23.07;RankSumP=0.379553;SB=-1580.29;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.391C>T;refseq.codingCoordStr_2=c.640C>T;refseq.codonCoord_1=131;refseq.codonCoord_2=214;refseq.end_1=30400324;refseq.end_2=30400324;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=567;refseq.mrnaCoord_2=816;refseq.name2_1=ITGAL;refseq.name2_2=ITGAL;refseq.name_1=NM_001114380;refseq.name_2=NM_002209;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R131W;refseq.proteinCoordStr_2=p.R214W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=30400324;refseq.start_2=30400324;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr16 30414953 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1289A>C;refseq.codingCoordStr_2=c.1538A>C;refseq.codonCoord_1=430;refseq.codonCoord_2=513;refseq.end_1=30414953;refseq.end_2=30414953;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1465;refseq.mrnaCoord_2=1714;refseq.name2_1=ITGAL;refseq.name2_2=ITGAL;refseq.name_1=NM_001114380;refseq.name_2=NM_002209;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D430A;refseq.proteinCoordStr_2=p.D513A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=30414953;refseq.start_2=30414953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr16 30415358 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1553T>G;refseq.codingCoordStr_2=c.1802T>G;refseq.codonCoord_1=518;refseq.codonCoord_2=601;refseq.end_1=30415358;refseq.end_2=30415358;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1729;refseq.mrnaCoord_2=1978;refseq.name2_1=ITGAL;refseq.name2_2=ITGAL;refseq.name_1=NM_001114380;refseq.name_2=NM_002209;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V518G;refseq.proteinCoordStr_2=p.V601G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=30415358;refseq.start_2=30415358;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 30425542 . G C 302.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=97.83;MQ0=0;OQ=2898.99;QD=21.32;RankSumP=0.334186;SB=-1321.39;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2120G>C;refseq.codingCoordStr_2=c.2372G>C;refseq.codonCoord_1=707;refseq.codonCoord_2=791;refseq.end_1=30425542;refseq.end_2=30425542;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2296;refseq.mrnaCoord_2=2548;refseq.name2_1=ITGAL;refseq.name2_2=ITGAL;refseq.name_1=NM_001114380;refseq.name_2=NM_002209;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R707T;refseq.proteinCoordStr_2=p.R791T;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=30425542;refseq.start_2=30425542;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr16 30444173 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.38;MQ0=0;OQ=531.56;QD=9.33;RankSumP=0.558491;SB=-197.50;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.789T>C;refseq.codonCoord=263;refseq.end=30444173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=965;refseq.name=NM_024671;refseq.name2=ZNF768;refseq.positionType=CDS;refseq.proteinCoordStr=p.C263C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=701;refseq.start=30444173;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr16 30573075 . G C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.572G>C;refseq.codonCoord=191;refseq.end=30573075;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_024031;refseq.name2=PRR14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R191P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=24;refseq.start=30573075;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 30628336 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.635T>G;refseq.codonCoord=212;refseq.end=30628336;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V212G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=30628336;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 30628339 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.638T>G;refseq.codonCoord=213;refseq.end=30628339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V213G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=30628339;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 30631157 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1889T>G;refseq.codonCoord=630;refseq.end=30631157;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2274;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V630G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=74;refseq.start=30631157;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr16 30631571 . G T 216.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=98.77;MQ0=0;OQ=7193.11;QD=36.89;RankSumP=1.00000;SB=-1527.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2064G>T;refseq.codonCoord=688;refseq.end=30631571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2449;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R688R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-67;refseq.start=30631571;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr16 30639102 . C A 49 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=116;Dels=0.00;HRun=1;HaplotypeScore=16.53;MQ=96.55;MQ0=0;OQ=50.79;QD=0.44;RankSumP=0.000137487;SB=107.34;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2936C>A;refseq.codonCoord=979;refseq.end=30639102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3321;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T979N;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-52;refseq.start=30639102;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr16 30642464 . C A 172.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=12.84;MQ=98.75;MQ0=0;OQ=13790.89;QD=33.55;RankSumP=1.00000;SB=-4240.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4218C>A;refseq.codonCoord=1406;refseq.end=30642464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4603;refseq.name=NM_006662;refseq.name2=SRCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1406S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=59;refseq.start=30642464;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr16 30679141 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.*3222C>A;refseq.codingCoordStr_2=c.323G>T;refseq.codingCoordStr_3=c.*159C>A;refseq.codonCoord_2=108;refseq.end_1=30679141;refseq.end_2=30679141;refseq.end_3=30679141;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=4653;refseq.mrnaCoord_2=1222;refseq.mrnaCoord_3=1494;refseq.name2_1=PHKG2;refseq.name2_2=C16orf93;refseq.name2_3=PHKG2;refseq.name_1=NM_000294;refseq.name_2=NM_001014979;refseq.name_3=NM_001172432;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.C108F;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-856;refseq.spliceDist_2=-36;refseq.spliceDist_3=201;refseq.start_1=30679141;refseq.start_2=30679141;refseq.start_3=30679141;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr16 30681998 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.191A>G;refseq.codonCoord=64;refseq.end=30681998;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_014771;refseq.name2=RNF40;refseq.positionType=CDS;refseq.proteinCoordStr=p.E64G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=59;refseq.start=30681998;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr16 30687217 . A G 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=1349.00;QD=29.98;RankSumP=1.00000;SB=-513.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1844A>G;refseq.codonCoord=615;refseq.end=30687217;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1967;refseq.name=NM_014771;refseq.name2=RNF40;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q615R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-136;refseq.start=30687217;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr16 30688329 . A G 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=96.69;MQ0=0;OQ=954.31;QD=30.78;RankSumP=1.00000;SB=-443.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2493A>G;refseq.codonCoord=831;refseq.end=30688329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2616;refseq.name=NM_014771;refseq.name2=RNF40;refseq.positionType=CDS;refseq.proteinCoordStr=p.L831L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=33;refseq.start=30688329;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 30872441 . A G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=11.16;MQ=97.13;MQ0=0;OQ=2630.43;QD=28.59;RankSumP=1.00000;SB=-1112.78;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.663A>G;refseq.codonCoord=221;refseq.end=30872441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_152288;refseq.name2=ORAI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q221Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=435;refseq.start=30872441;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 30898154 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3546T>C;refseq.codonCoord=1182;refseq.end=30898154;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4232;refseq.name=NM_014712;refseq.name2=SETD1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1182P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=188;refseq.start=30898154;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 30906643 . A G 245.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.81;MQ0=0;OQ=4460.54;QD=31.41;RankSumP=1.00000;SB=-2219.80;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.585A>G;refseq.codingCoordStr_2=c.585A>G;refseq.codingCoordStr_3=c.748A>G;refseq.codonCoord_1=195;refseq.codonCoord_2=195;refseq.codonCoord_3=250;refseq.end_1=30906643;refseq.end_2=30906643;refseq.end_3=30906643;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=884;refseq.mrnaCoord_2=691;refseq.mrnaCoord_3=854;refseq.name2_1=HSD3B7;refseq.name2_2=HSD3B7;refseq.name2_3=HSD3B7;refseq.name_1=NM_001142777;refseq.name_2=NM_001142778;refseq.name_3=NM_025193;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q195Q;refseq.proteinCoordStr_2=p.Q195Q;refseq.proteinCoordStr_3=p.T250A;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=30906643;refseq.start_2=30906643;refseq.start_3=30906643;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Ala;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr16 30906746 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.*97T>G;refseq.codingCoordStr_2=c.*97T>G;refseq.codingCoordStr_3=c.851T>G;refseq.codonCoord_3=284;refseq.end_1=30906746;refseq.end_2=30906746;refseq.end_3=30906746;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=987;refseq.mrnaCoord_2=794;refseq.mrnaCoord_3=957;refseq.name2_1=HSD3B7;refseq.name2_2=HSD3B7;refseq.name2_3=HSD3B7;refseq.name_1=NM_001142777;refseq.name_2=NM_001142778;refseq.name_3=NM_025193;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V284G;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=157;refseq.spliceDist_2=157;refseq.spliceDist_3=157;refseq.start_1=30906746;refseq.start_2=30906746;refseq.start_3=30906746;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr16 30906963 . T C 216.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=953.33;QD=32.87;RankSumP=1.00000;SB=-430.61;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.*314T>C;refseq.codingCoordStr_2=c.*314T>C;refseq.codingCoordStr_3=c.1068T>C;refseq.codonCoord_3=356;refseq.end_1=30906963;refseq.end_2=30906963;refseq.end_3=30906963;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1204;refseq.mrnaCoord_2=1011;refseq.mrnaCoord_3=1174;refseq.name2_1=HSD3B7;refseq.name2_2=HSD3B7;refseq.name2_3=HSD3B7;refseq.name_1=NM_001142777;refseq.name_2=NM_001142778;refseq.name_3=NM_025193;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R356R;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=374;refseq.spliceDist_2=374;refseq.spliceDist_3=374;refseq.start_1=30906963;refseq.start_2=30906963;refseq.start_3=30906963;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGC;set=Intersection GT 1/1 chr16 30980323 . A C 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.500000;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.1427T>G;refseq.codingCoordStr_2=c.1496T>G;refseq.codingCoordStr_3=c.1427T>G;refseq.codingCoordStr_4=c.1427T>G;refseq.codonCoord_1=476;refseq.codonCoord_2=499;refseq.codonCoord_3=476;refseq.codonCoord_4=476;refseq.end_1=30980323;refseq.end_2=30980323;refseq.end_3=30980323;refseq.end_4=30980323;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2212;refseq.mrnaCoord_2=1852;refseq.mrnaCoord_3=1738;refseq.mrnaCoord_4=2111;refseq.name2_1=ZNF668;refseq.name2_2=ZNF668;refseq.name2_3=ZNF668;refseq.name2_4=ZNF668;refseq.name_1=NM_001172668;refseq.name_2=NM_001172669;refseq.name_3=NM_001172670;refseq.name_4=NM_024706;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V476G;refseq.proteinCoordStr_2=p.V499G;refseq.proteinCoordStr_3=p.V476G;refseq.proteinCoordStr_4=p.V476G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-654;refseq.spliceDist_2=-659;refseq.spliceDist_3=-659;refseq.spliceDist_4=-659;refseq.start_1=30980323;refseq.start_2=30980323;refseq.start_3=30980323;refseq.start_4=30980323;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=soap GT 0/1 chr16 30980410 . G A 117.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=98.44;MQ0=0;OQ=782.39;QD=13.73;RankSumP=0.356390;SB=-100.56;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.1340C>T;refseq.codingCoordStr_2=c.1409C>T;refseq.codingCoordStr_3=c.1340C>T;refseq.codingCoordStr_4=c.1340C>T;refseq.codonCoord_1=447;refseq.codonCoord_2=470;refseq.codonCoord_3=447;refseq.codonCoord_4=447;refseq.end_1=30980410;refseq.end_2=30980410;refseq.end_3=30980410;refseq.end_4=30980410;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2125;refseq.mrnaCoord_2=1765;refseq.mrnaCoord_3=1651;refseq.mrnaCoord_4=2024;refseq.name2_1=ZNF668;refseq.name2_2=ZNF668;refseq.name2_3=ZNF668;refseq.name2_4=ZNF668;refseq.name_1=NM_001172668;refseq.name_2=NM_001172669;refseq.name_3=NM_001172670;refseq.name_4=NM_024706;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A447V;refseq.proteinCoordStr_2=p.A470V;refseq.proteinCoordStr_3=p.A447V;refseq.proteinCoordStr_4=p.A447V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=693;refseq.spliceDist_2=693;refseq.spliceDist_3=693;refseq.spliceDist_4=693;refseq.start_1=30980410;refseq.start_2=30980410;refseq.start_3=30980410;refseq.start_4=30980410;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 1/0 chr16 30982676 . G A 167.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.46;MQ0=0;OQ=895.83;QD=21.85;RankSumP=0.106914;SB=-370.52;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.606C>T;refseq.codingCoordStr_2=c.675C>T;refseq.codingCoordStr_3=c.606C>T;refseq.codingCoordStr_4=c.606C>T;refseq.codonCoord_1=202;refseq.codonCoord_2=225;refseq.codonCoord_3=202;refseq.codonCoord_4=202;refseq.end_1=30982676;refseq.end_2=30982676;refseq.end_3=30982676;refseq.end_4=30982676;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1391;refseq.mrnaCoord_2=1031;refseq.mrnaCoord_3=917;refseq.mrnaCoord_4=1290;refseq.name2_1=ZNF668;refseq.name2_2=ZNF668;refseq.name2_3=ZNF668;refseq.name2_4=ZNF668;refseq.name_1=NM_001172668;refseq.name_2=NM_001172669;refseq.name_3=NM_001172670;refseq.name_4=NM_024706;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G202G;refseq.proteinCoordStr_2=p.G225G;refseq.proteinCoordStr_3=p.G202G;refseq.proteinCoordStr_4=p.G202G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.spliceDist_4=-42;refseq.start_1=30982676;refseq.start_2=30982676;refseq.start_3=30982676;refseq.start_4=30982676;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=Intersection GT 1/0 chr16 30983209 . C G 193.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=7.78;MQ=96.44;MQ0=0;OQ=5222.92;QD=39.57;RankSumP=1.00000;SB=-1330.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_1=c.73G>C;refseq.codingCoordStr_2=c.142G>C;refseq.codingCoordStr_3=c.73G>C;refseq.codingCoordStr_4=c.73G>C;refseq.codonCoord_1=25;refseq.codonCoord_2=48;refseq.codonCoord_3=25;refseq.codonCoord_4=25;refseq.end_1=30983209;refseq.end_2=30983209;refseq.end_3=30983209;refseq.end_4=30983209;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=858;refseq.mrnaCoord_2=498;refseq.mrnaCoord_3=384;refseq.mrnaCoord_4=757;refseq.name2_1=ZNF668;refseq.name2_2=ZNF668;refseq.name2_3=ZNF668;refseq.name2_4=ZNF668;refseq.name_1=NM_001172668;refseq.name_2=NM_001172669;refseq.name_3=NM_001172670;refseq.name_4=NM_024706;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V25L;refseq.proteinCoordStr_2=p.V48L;refseq.proteinCoordStr_3=p.V25L;refseq.proteinCoordStr_4=p.V25L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=95;refseq.spliceDist_2=95;refseq.spliceDist_3=95;refseq.spliceDist_4=95;refseq.start_1=30983209;refseq.start_2=30983209;refseq.start_3=30983209;refseq.start_4=30983209;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/1 chr16 30995848 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=634.86;QD=17.63;RankSumP=0.0595831;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.702G>A;refseq.codonCoord=234;refseq.end=30995848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_014699;refseq.name2=ZNF646;refseq.positionType=CDS;refseq.proteinCoordStr=p.E234E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=781;refseq.start=30995848;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr16 30996126 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.54;MQ0=0;OQ=551.11;QD=11.73;RankSumP=0.175213;SB=-127.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.980A>G;refseq.codonCoord=327;refseq.end=30996126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1269;refseq.name=NM_014699;refseq.name2=ZNF646;refseq.positionType=CDS;refseq.proteinCoordStr=p.E327G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1059;refseq.start=30996126;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr16 30998137 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2991T>G;refseq.codonCoord=997;refseq.end=30998137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3280;refseq.name=NM_014699;refseq.name2=ZNF646;refseq.positionType=CDS;refseq.proteinCoordStr=p.G997G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-2387;refseq.start=30998137;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 30999870 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4724A>C;refseq.codonCoord=1575;refseq.end=30999870;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5013;refseq.name=NM_014699;refseq.name2=ZNF646;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1575P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-654;refseq.start=30999870;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 31003996 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=97.20;MQ0=0;OQ=516.53;QD=12.91;RankSumP=0.505441;SB=-258.08;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.970C>G;refseq.codonCoord=324;refseq.end=31003996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=970;refseq.name=NM_001039503;refseq.name2=POL3S;refseq.positionType=CDS;refseq.proteinCoordStr=p.L324V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-65;refseq.start=31003996;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr16 31029294 . G A 199.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.64;MQ0=0;OQ=2109.08;QD=14.15;RankSumP=0.0474526;SB=-903.16;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.615G>A;refseq.codingCoordStr_2=c.615G>A;refseq.codonCoord_1=205;refseq.codonCoord_2=205;refseq.end_1=31029294;refseq.end_2=31029294;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=931;refseq.mrnaCoord_2=931;refseq.name2_1=BCKDK;refseq.name2_2=BCKDK;refseq.name_1=NM_001122957;refseq.name_2=NM_005881;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T205T;refseq.proteinCoordStr_2=p.T205T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=31029294;refseq.start_2=31029294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr16 31049327 . A G 272.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.13;MQ0=0;OQ=2022.32;QD=32.10;RankSumP=1.00000;SB=-1035.75;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1056A>G;refseq.codingCoordStr_2=c.1056A>G;refseq.codonCoord_1=352;refseq.codonCoord_2=352;refseq.end_1=31049327;refseq.end_2=31049327;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1074;refseq.mrnaCoord_2=1074;refseq.name2_1=MYST1;refseq.name2_2=MYST1;refseq.name_1=NM_032188;refseq.name_2=NM_182958;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P352P;refseq.proteinCoordStr_2=p.P352P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=31049327;refseq.start_2=31049327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr16 31049381 . A G 315.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.48;MQ0=0;OQ=2431.25;QD=39.21;RankSumP=1.00000;SB=-1192.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1110A>G;refseq.codingCoordStr_2=c.1110A>G;refseq.codonCoord_1=370;refseq.codonCoord_2=370;refseq.end_1=31049381;refseq.end_2=31049381;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1128;refseq.mrnaCoord_2=1128;refseq.name2_1=MYST1;refseq.name2_2=MYST1;refseq.name_1=NM_032188;refseq.name_2=NM_182958;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L370L;refseq.proteinCoordStr_2=p.L370L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=31049381;refseq.start_2=31049381;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr16 31060606 . A G 451.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.66;MQ0=0;OQ=4414.32;QD=37.41;RankSumP=1.00000;SB=-2003.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1698T>C;refseq.codonCoord=566;refseq.end=31060606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1757;refseq.name=NM_173502;refseq.name2=PRSS36;refseq.positionType=CDS;refseq.proteinCoordStr=p.D566D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-62;refseq.start=31060606;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr16 31061647 . G A 146 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.43;MQ0=0;OQ=1060.35;QD=33.14;RankSumP=1.00000;SB=-275.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1269C>T;refseq.codonCoord=423;refseq.end=31061647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1328;refseq.name=NM_173502;refseq.name2=PRSS36;refseq.positionType=CDS;refseq.proteinCoordStr=p.S423S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-89;refseq.start=31061647;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr16 31101443 . C A 268.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=15.91;MQ=98.58;MQ0=0;OQ=5988.53;QD=17.16;RankSumP=0.00636522;SB=-1985.76;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_2=c.147C>A;refseq.codingCoordStr_3=c.147C>A;refseq.codingCoordStr_4=c.147C>A;refseq.codonCoord_2=49;refseq.codonCoord_3=49;refseq.codonCoord_4=49;refseq.end_1=31101443;refseq.end_2=31101443;refseq.end_3=31101443;refseq.end_4=31101443;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=252;refseq.mrnaCoord_2=252;refseq.mrnaCoord_3=252;refseq.mrnaCoord_4=252;refseq.name2_1=FUS;refseq.name2_2=FUS;refseq.name2_3=FUS;refseq.name2_4=FUS;refseq.name_1=NR_028388;refseq.name_2=NM_001170634;refseq.name_3=NM_001170937;refseq.name_4=NM_004960;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G49G;refseq.proteinCoordStr_3=p.G49G;refseq.proteinCoordStr_4=p.G49G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.spliceDist_4=-44;refseq.start_1=31101443;refseq.start_2=31101443;refseq.start_3=31101443;refseq.start_4=31101443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=filterInsoap-gatk GT 1/0 chr16 31102780 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=10.74;MQ=96.88;MQ0=0;OQ=1197.45;QD=10.89;RankSumP=0.433848;SB=-295.33;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_2=c.288C>T;refseq.codingCoordStr_3=c.291C>T;refseq.codingCoordStr_4=c.291C>T;refseq.codonCoord_2=96;refseq.codonCoord_3=97;refseq.codonCoord_4=97;refseq.end_1=31102780;refseq.end_2=31102780;refseq.end_3=31102780;refseq.end_4=31102780;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=396;refseq.mrnaCoord_2=393;refseq.mrnaCoord_3=396;refseq.mrnaCoord_4=396;refseq.name2_1=FUS;refseq.name2_2=FUS;refseq.name2_3=FUS;refseq.name2_4=FUS;refseq.name_1=NR_028388;refseq.name_2=NM_001170634;refseq.name_3=NM_001170937;refseq.name_4=NM_004960;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y96Y;refseq.proteinCoordStr_3=p.Y97Y;refseq.proteinCoordStr_4=p.Y97Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.start_1=31102780;refseq.start_2=31102780;refseq.start_3=31102780;refseq.start_4=31102780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 0/1 chr16 31137964 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.76;MQ0=0;OQ=133.82;QD=3.72;RankSumP=0.652049;SB=-14.56;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.438C>T;refseq.codonCoord=146;refseq.end=31137964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_001008274;refseq.name2=TRIM72;refseq.positionType=CDS;refseq.proteinCoordStr=p.R146R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=48;refseq.start=31137964;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr16 31295871 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2675A>C;refseq.codonCoord=892;refseq.end=31295871;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2742;refseq.name=NM_000887;refseq.name2=ITGAX;refseq.positionType=CDS;refseq.proteinCoordStr=p.D892A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-31;refseq.start=31295871;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 31329930 . T C 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=93.24;MQ0=2;OQ=3177.02;QD=29.15;RankSumP=1.00000;SB=-931.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1389T>C;refseq.codonCoord=463;refseq.end=31329930;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1438;refseq.name=NM_005353;refseq.name2=ITGAD;refseq.positionType=CDS;refseq.proteinCoordStr=p.S463S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=33;refseq.start=31329930;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr16 31383687 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=97.10;MQ0=0;OQ=746.55;QD=14.93;RankSumP=0.444304;SB=-235.70;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1842C>G;refseq.codingCoordStr_2=c.1842C>G;refseq.codonCoord_1=614;refseq.codonCoord_2=614;refseq.end_1=31383687;refseq.end_2=31383687;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2371;refseq.mrnaCoord_2=2371;refseq.name2_1=ARMC5;refseq.name2_2=ARMC5;refseq.name_1=NM_001105247;refseq.name_2=NM_024742;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L614L;refseq.proteinCoordStr_2=p.L614L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-23;refseq.spliceDist_2=472;refseq.start_1=31383687;refseq.start_2=31383687;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr16 31447435 . G T 169 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.68;MQ0=0;OQ=2824.40;QD=14.56;RankSumP=0.323149;SB=-1006.91;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.231G>T;refseq.codonCoord=77;refseq.end=31447435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_016633;refseq.name2=AHSP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L77L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=156;refseq.start=31447435;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr16 31834120 . G A 412.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=6572.95;QD=41.08;RankSumP=1.00000;SB=-2938.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1049G>A;refseq.codonCoord=350;refseq.end=31834120;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1258;refseq.name=NM_003414;refseq.name2=ZNF267;refseq.positionType=CDS;refseq.proteinCoordStr=p.C350Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=823;refseq.start=31834120;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr16 33873034 . A C 39.85 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=0;HaplotypeScore=25.65;MQ=92.49;MQ0=1;QD=0.28;SB=0.12;refseq.chr=chr16;refseq.end=33873034;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=26;refseq.name=NR_031727;refseq.name2=MIR1826;refseq.positionType=non_coding_exon;refseq.spliceDist=26;refseq.start=33873034;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:112,27:118:-49.65,-42.38,-417.06:72.68 chr16 33873039 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=1;HaplotypeScore=34.87;MQ=93.31;MQ0=0;OQ=95.72;QD=0.69;SB=65.75;refseq.chr=chr16;refseq.end=33873039;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=31;refseq.name=NR_031727;refseq.name2=MIR1826;refseq.positionType=non_coding_exon;refseq.spliceDist=31;refseq.start=33873039;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:112,27:116:-47.79,-34.94,-441.42:99 chr16 33873061 . T A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=25.83;MQ=93.62;MQ0=0;OQ=317.66;QD=2.15;SB=-22.36;refseq.chr=chr16;refseq.end=33873061;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=53;refseq.name=NR_031727;refseq.name2=MIR1826;refseq.positionType=non_coding_exon;refseq.spliceDist=-33;refseq.start=33873061;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:119,27:130:-74.20,-39.15,-449.54:99 chr16 33873083 . C T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=23.18;MQ=93.84;MQ0=0;OQ=68.45;QD=0.58;SB=-36.36;refseq.chr=chr16;refseq.end=33873083;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=75;refseq.name=NR_031727;refseq.name2=MIR1826;refseq.positionType=non_coding_exon;refseq.spliceDist=-11;refseq.start=33873083;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:108,10:108:-42.65,-32.52,-407.42:99 chr16 33873090 rs62030476 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=31.74;MQ=93.23;MQ0=0;OQ=564.75;QD=5.23;SB=-77.79;refseq.chr=chr16;refseq.end=33873090;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=82;refseq.name=NR_031727;refseq.name2=MIR1826;refseq.positionType=non_coding_exon;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=33873090;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:83,24:98:-89.27,-29.51,-299.43:99 chr16 45212711 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=13.85;MQ=98.15;MQ0=0;OQ=4151.01;QD=27.31;RankSumP=1.00000;SB=-869.24;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.62T>C;refseq.codonCoord=21;refseq.end=45212711;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_024745;refseq.name2=SHCBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M21T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-42;refseq.start=45212711;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr16 45253785 . G A 440.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.91;MQ0=0;OQ=6493.48;QD=41.89;RankSumP=1.00000;SB=-2216.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1938C>T;refseq.codonCoord=646;refseq.end=45253785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2037;refseq.name=NM_018206;refseq.name2=VPS35;refseq.positionType=CDS;refseq.proteinCoordStr=p.H646H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=111;refseq.start=45253785;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr16 45273505 . A G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.182143;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.186T>C;refseq.codonCoord=62;refseq.end=45273505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=285;refseq.name=NM_018206;refseq.name2=VPS35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S62S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-14;refseq.start=45273505;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr16 45273586 . G A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.523477;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.105C>T;refseq.codonCoord=35;refseq.end=45273586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_018206;refseq.name2=VPS35;refseq.positionType=CDS;refseq.proteinCoordStr=p.D35D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=45273586;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr16 45274925 . C A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.485037;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.98G>T;refseq.codonCoord=33;refseq.end=45274925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_018206;refseq.name2=VPS35;refseq.positionType=CDS;refseq.proteinCoordStr=p.C33F;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=45274925;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr16 45302190 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=5.48026e-12;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2127G>T;refseq.codonCoord=709;refseq.end=45302190;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2243;refseq.name=NM_182493;refseq.name2=MYLK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L709F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=13;refseq.start=45302190;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr16 46287869 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2972A>C;refseq.codingCoordStr_2=c.2951A>C;refseq.codonCoord_1=991;refseq.codonCoord_2=984;refseq.end_1=46287869;refseq.end_2=46287869;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3024;refseq.mrnaCoord_2=3136;refseq.name2_1=PHKB;refseq.name2_2=PHKB;refseq.name_1=NM_000293;refseq.name_2=NM_001031835;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D991A;refseq.proteinCoordStr_2=p.D984A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=46287869;refseq.start_2=46287869;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr16 46680083 . G A 301.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=6.84;MQ=98.80;MQ0=0;OQ=11788.98;QD=41.51;RankSumP=1.00000;SB=-5876.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3349C>T;refseq.codonCoord=1117;refseq.end=46680083;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3695;refseq.name=NM_033226;refseq.name2=ABCC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1117C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=64;refseq.start=46680083;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr16 46722278 . T C 252.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2408.31;QD=17.58;RankSumP=0.185109;SB=-878.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1158A>G;refseq.codonCoord=386;refseq.end=46722278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1504;refseq.name=NM_033226;refseq.name2=ABCC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V386V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=30;refseq.start=46722278;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 46758709 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.4126A>C;refseq.codingCoordStr_2=c.4126A>C;refseq.codingCoordStr_3=c.4012A>C;refseq.codonCoord_1=1376;refseq.codonCoord_2=1376;refseq.codonCoord_3=1338;refseq.end_1=46758709;refseq.end_2=46758709;refseq.end_3=46758709;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4190;refseq.mrnaCoord_2=4476;refseq.mrnaCoord_3=4076;refseq.name2_1=ABCC11;refseq.name2_2=ABCC11;refseq.name2_3=ABCC11;refseq.name_1=NM_032583;refseq.name_2=NM_033151;refseq.name_3=NM_145186;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1376P;refseq.proteinCoordStr_2=p.T1376P;refseq.proteinCoordStr_3=p.T1338P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.spliceDist_3=70;refseq.start_1=46758709;refseq.start_2=46758709;refseq.start_3=46758709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr16 46843657 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.348G>A;refseq.codonCoord=116;refseq.end=46843657;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_031490;refseq.name2=LONP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E116E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=115;refseq.start=46843657;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr16 46894604 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1682T>G;refseq.codonCoord=561;refseq.end=46894604;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1771;refseq.name=NM_031490;refseq.name2=LONP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V561G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=21;refseq.start=46894604;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr16 47965467 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.116A>G;refseq.codonCoord=39;refseq.end=47965467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_144602;refseq.name2=C16orf78;refseq.positionType=CDS;refseq.proteinCoordStr=p.E39G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-35;refseq.start=47965467;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 47988035 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=188;Dels=0.00;HRun=2;HaplotypeScore=9.33;MQ=98.57;MQ0=0;OQ=2839.68;QD=15.10;RankSumP=0.301662;SB=-1182.38;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.595G>A;refseq.codonCoord=199;refseq.end=47988035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_144602;refseq.name2=C16orf78;refseq.positionType=CDS;refseq.proteinCoordStr=p.E199K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-56;refseq.start=47988035;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr16 48230160 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.404G>C;refseq.codonCoord=135;refseq.end=48230160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_015069;refseq.name2=ZNF423;refseq.positionType=CDS;refseq.proteinCoordStr=p.G135A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=127;refseq.start=48230160;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 48664095 . T C 140.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=2;HaplotypeScore=7.30;MQ=98.77;MQ0=0;OQ=5457.25;QD=18.56;RankSumP=0.0789793;SB=-1387.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.591T>C;refseq.codonCoord=197;refseq.end=48664095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=753;refseq.name=NM_182922;refseq.name2=HEATR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F197F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-32;refseq.start=48664095;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr16 48884162 . A G 182.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=98.54;MQ0=0;OQ=7302.52;QD=34.45;RankSumP=1.00000;SB=-2776.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.612A>G;refseq.codonCoord=204;refseq.end=48884162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_001114;refseq.name2=ADCY7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A204A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=75;refseq.start=48884162;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr16 48959633 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.417534;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.127G>A;refseq.codingCoordStr_2=c.127G>A;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.end_1=48959633;refseq.end_2=48959633;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=187;refseq.mrnaCoord_2=187;refseq.name2_1=BRD7;refseq.name2_2=BRD7;refseq.name_1=NM_001173984;refseq.name_2=NM_013263;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G43R;refseq.proteinCoordStr_2=p.G43R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=48959633;refseq.start_2=48959633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 0/1 chr16 49267224 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=471;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.55;MQ0=0;OQ=10374.83;QD=22.03;RankSumP=0.150316;SB=-4285.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.240C>T;refseq.codingCoordStr_2=c.240C>T;refseq.codingCoordStr_3=c.240C>T;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.codonCoord_3=80;refseq.end_1=49267224;refseq.end_2=49267224;refseq.end_3=49267224;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=413;refseq.mrnaCoord_2=413;refseq.mrnaCoord_3=413;refseq.name2_1=SNX20;refseq.name2_2=SNX20;refseq.name2_3=SNX20;refseq.name_1=NM_001144972;refseq.name_2=NM_153337;refseq.name_3=NM_182854;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I80I;refseq.proteinCoordStr_2=p.I80I;refseq.proteinCoordStr_3=p.I80I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=49267224;refseq.start_2=49267224;refseq.start_3=49267224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/0 chr16 49268858 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.81A>C;refseq.codingCoordStr_2=c.81A>C;refseq.codingCoordStr_3=c.81A>C;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.codonCoord_3=27;refseq.end_1=49268858;refseq.end_2=49268858;refseq.end_3=49268858;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=254;refseq.mrnaCoord_2=254;refseq.mrnaCoord_3=254;refseq.name2_1=SNX20;refseq.name2_2=SNX20;refseq.name2_3=SNX20;refseq.name_1=NM_001144972;refseq.name_2=NM_153337;refseq.name_3=NM_182854;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A27A;refseq.proteinCoordStr_2=p.A27A;refseq.proteinCoordStr_3=p.A27A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=49268858;refseq.start_2=49268858;refseq.start_3=49268858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 1/0 chr16 49291360 . C G 243.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.73;MQ0=0;OQ=1744.79;QD=18.17;RankSumP=0.222186;SB=-418.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.534C>G;refseq.codonCoord=178;refseq.end=49291360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_022162;refseq.name2=NOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S178S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=49291360;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr16 49302125 . C T 137.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.74;MQ0=0;OQ=611.32;QD=14.22;RankSumP=0.515292;SB=-307.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.802C>T;refseq.codonCoord=268;refseq.end=49302125;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=907;refseq.name=NM_022162;refseq.name2=NOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P268S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=156;refseq.start=49302125;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr16 49302700 . C T 244.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=17.99;MQ=98.40;MQ0=0;OQ=5852.04;QD=19.38;RankSumP=0.0383169;SB=-2382.41;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1377C>T;refseq.codonCoord=459;refseq.end=49302700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_022162;refseq.name2=NOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R459R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=731;refseq.start=49302700;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr16 49302774 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1451A>C;refseq.codonCoord=484;refseq.end=49302774;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_022162;refseq.name2=NOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H484P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=805;refseq.start=49302774;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 49303084 . T G 101.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=99.00;MQ0=0;OQ=852.92;QD=17.06;RankSumP=0.694472;SB=-328.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1761T>G;refseq.codonCoord=587;refseq.end=49303084;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1866;refseq.name=NM_022162;refseq.name2=NOD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R587R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-702;refseq.start=49303084;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr16 49728676 . C T 438.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.01;MQ0=0;OQ=5223.66;QD=38.41;RankSumP=1.00000;SB=-2111.64;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3532G>A;refseq.codingCoordStr_2=c.3823G>A;refseq.codonCoord_1=1178;refseq.codonCoord_2=1275;refseq.end_1=49728676;refseq.end_2=49728676;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3964;refseq.mrnaCoord_2=3854;refseq.name2_1=SALL1;refseq.name2_2=SALL1;refseq.name_1=NM_001127892;refseq.name_2=NM_002968;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1178I;refseq.proteinCoordStr_2=p.V1275I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=285;refseq.spliceDist_2=285;refseq.start_1=49728676;refseq.start_2=49728676;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr16 49730178 . G A 226.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=13.55;MQ=98.75;MQ0=0;OQ=5146.17;QD=22.47;RankSumP=0.105864;SB=-1688.24;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3165C>T;refseq.codingCoordStr_2=c.3456C>T;refseq.codonCoord_1=1055;refseq.codonCoord_2=1152;refseq.end_1=49730178;refseq.end_2=49730178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3597;refseq.mrnaCoord_2=3487;refseq.name2_1=SALL1;refseq.name2_2=SALL1;refseq.name_1=NM_001127892;refseq.name_2=NM_002968;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1055H;refseq.proteinCoordStr_2=p.H1152H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.start_1=49730178;refseq.start_2=49730178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr16 52061435 . G A 283.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.66;MQ0=0;OQ=4405.59;QD=17.84;RankSumP=0.0117811;SB=-741.97;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2082G>A;refseq.codonCoord=694;refseq.end=52061435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_005611;refseq.name2=RBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T694T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=107;refseq.start=52061435;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 52062222 . T C 325.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=98.68;MQ0=0;OQ=8106.82;QD=19.58;RankSumP=0.347030;SB=-2892.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2590T>C;refseq.codonCoord=864;refseq.end=52062222;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2708;refseq.name=NM_005611;refseq.name2=RBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L864L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=64;refseq.start=52062222;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 52193501 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=2;HaplotypeScore=1.89;MQ=99.00;MQ0=0;OQ=3045.66;QD=21.45;RankSumP=0.246662;SB=-523.56;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3696C>T;refseq.codingCoordStr_2=c.3936C>T;refseq.codonCoord_1=1232;refseq.codonCoord_2=1312;refseq.end_1=52193501;refseq.end_2=52193501;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3760;refseq.mrnaCoord_2=4000;refseq.name2_1=RPGRIP1L;refseq.name2_2=RPGRIP1L;refseq.name_1=NM_001127897;refseq.name_2=NM_015272;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1232D;refseq.proteinCoordStr_2=p.D1312D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=52193501;refseq.start_2=52193501;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr16 52240450 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=355;Dels=0.00;HRun=1;HaplotypeScore=18.11;MQ=98.92;MQ0=0;OQ=7902.30;QD=22.26;RankSumP=0.400859;SB=-3188.50;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2231G>A;refseq.codingCoordStr_2=c.2231G>A;refseq.codonCoord_1=744;refseq.codonCoord_2=744;refseq.end_1=52240450;refseq.end_2=52240450;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2295;refseq.mrnaCoord_2=2295;refseq.name2_1=RPGRIP1L;refseq.name2_2=RPGRIP1L;refseq.name_1=NM_001127897;refseq.name_2=NM_015272;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R744Q;refseq.proteinCoordStr_2=p.R744Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=52240450;refseq.start_2=52240450;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr16 52417283 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.130C>G;refseq.codonCoord=44;refseq.end=52417283;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=352;refseq.name=NM_001080432;refseq.name2=FTO;refseq.positionType=CDS;refseq.proteinCoordStr=p.L44V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=52417283;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr16 52875673 . C A 146.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=99.00;MQ0=0;OQ=1687.57;QD=14.55;RankSumP=0.0885805;SB=-856.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1437G>T;refseq.codonCoord=479;refseq.end=52875673;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1853;refseq.name=NM_024336;refseq.name2=IRX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q479H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-15;refseq.start=52875673;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr16 53524597 . C A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=92.49;MQ0=0;OQ=85.87;QD=7.81;RankSumP=0.0167832;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.763C>A;refseq.codonCoord=255;refseq.end=53524597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_005853;refseq.name2=IRX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255T;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=108;refseq.start=53524597;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr16 54077036 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.67;MQ0=0;OQ=10939.82;QD=23.58;RankSumP=0.425511;SB=-4761.95;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.528G>C;refseq.codingCoordStr_2=c.678G>C;refseq.codonCoord_1=176;refseq.codonCoord_2=226;refseq.end_1=54077036;refseq.end_2=54077036;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=842;refseq.mrnaCoord_2=989;refseq.name2_1=MMP2;refseq.name2_2=MMP2;refseq.name_1=NM_001127891;refseq.name_2=NM_004530;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G176G;refseq.proteinCoordStr_2=p.G226G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=54077036;refseq.start_2=54077036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr16 54081206 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.40;MQ0=0;OQ=436.06;QD=11.79;RankSumP=0.580811;SB=-135.67;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.999T>C;refseq.codingCoordStr_2=c.1149T>C;refseq.codonCoord_1=333;refseq.codonCoord_2=383;refseq.end_1=54081206;refseq.end_2=54081206;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1313;refseq.mrnaCoord_2=1460;refseq.name2_1=MMP2;refseq.name2_2=MMP2;refseq.name_1=NM_001127891;refseq.name_2=NM_004530;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D333D;refseq.proteinCoordStr_2=p.D383D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=54081206;refseq.start_2=54081206;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr16 54084614 . G A 259.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.86;MQ0=0;OQ=4503.24;QD=17.12;RankSumP=0.266959;SB=-514.96;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1230G>A;refseq.codingCoordStr_2=c.1380G>A;refseq.codonCoord_1=410;refseq.codonCoord_2=460;refseq.end_1=54084614;refseq.end_2=54084614;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1544;refseq.mrnaCoord_2=1691;refseq.name2_1=MMP2;refseq.name2_2=MMP2;refseq.name_1=NM_001127891;refseq.name_2=NM_004530;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T410T;refseq.proteinCoordStr_2=p.T460T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=54084614;refseq.start_2=54084614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr16 54094228 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=2;HaplotypeScore=1.26;MQ=98.88;MQ0=0;OQ=1878.90;QD=16.06;RankSumP=0.313718;SB=-802.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1656C>T;refseq.codingCoordStr_2=c.1806C>T;refseq.codonCoord_1=552;refseq.codonCoord_2=602;refseq.end_1=54094228;refseq.end_2=54094228;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1970;refseq.mrnaCoord_2=2117;refseq.name2_1=MMP2;refseq.name2_2=MMP2;refseq.name_1=NM_001127891;refseq.name_2=NM_004530;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F552F;refseq.proteinCoordStr_2=p.F602F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=54094228;refseq.start_2=54094228;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr16 54119967 . G A 162.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=520;Dels=0.00;HRun=0;HaplotypeScore=18.71;MQ=98.76;MQ0=0;OQ=11100.00;QD=21.35;RankSumP=0.397814;SB=-3856.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.489G>A;refseq.codonCoord=163;refseq.end=54119967;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_017839;refseq.name2=LPCAT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M163I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-41;refseq.start=54119967;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr16 54411869 . G A 8 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=10.13;MQ=14.27;MQ0=377;OQ=116.76;QD=0.30;RankSumP=0.571429;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.714C>T;refseq.codingCoordStr_2=c.717C>T;refseq.codingCoordStr_3=c.714C>T;refseq.codonCoord_1=238;refseq.codonCoord_2=239;refseq.codonCoord_3=238;refseq.end_1=54411869;refseq.end_2=54411869;refseq.end_3=54411869;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=822;refseq.mrnaCoord_2=825;refseq.mrnaCoord_3=822;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N238N;refseq.proteinCoordStr_2=p.N239N;refseq.proteinCoordStr_3=p.N238N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=54411869;refseq.start_2=54411869;refseq.start_3=54411869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=filterInsoap-gatk GT 1/0 chr16 54415041 . T C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.600000;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.458A>G;refseq.codingCoordStr_2=c.461A>G;refseq.codingCoordStr_3=c.458A>G;refseq.codonCoord_1=153;refseq.codonCoord_2=154;refseq.codonCoord_3=153;refseq.end_1=54415041;refseq.end_2=54415041;refseq.end_3=54415041;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=569;refseq.mrnaCoord_3=566;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D153G;refseq.proteinCoordStr_2=p.D154G;refseq.proteinCoordStr_3=p.D153G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=54415041;refseq.start_2=54415041;refseq.start_3=54415041;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 1/0 chr16 54420192 . G A 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=490;Dels=0.00;HRun=1;HaplotypeScore=8.85;MQ=94.94;MQ0=0;OQ=7603.88;QD=15.52;RankSumP=0.0300144;SB=-2761.94;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.245C>T;refseq.codingCoordStr_2=c.248C>T;refseq.codingCoordStr_3=c.245C>T;refseq.codonCoord_1=82;refseq.codonCoord_2=83;refseq.codonCoord_3=82;refseq.end_1=54420192;refseq.end_2=54420192;refseq.end_3=54420192;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=353;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=353;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S82L;refseq.proteinCoordStr_2=p.S83L;refseq.proteinCoordStr_3=p.S82L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=54420192;refseq.start_2=54420192;refseq.start_3=54420192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr16 54420218 . T C 3.37 PASS AC=1;AF=0.50;AN=2;DP=537;Dels=0.00;HRun=0;HaplotypeScore=7.59;MQ=94.60;MQ0=1;OQ=6254.78;QD=11.65;SB=-2036.91;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.219A>G;refseq.codingCoordStr_2=c.222A>G;refseq.codingCoordStr_3=c.219A>G;refseq.codonCoord_1=73;refseq.codonCoord_2=74;refseq.codonCoord_3=73;refseq.end_1=54420218;refseq.end_2=54420218;refseq.end_3=54420218;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=327;refseq.mrnaCoord_2=330;refseq.mrnaCoord_3=327;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P73P;refseq.proteinCoordStr_2=p.P74P;refseq.proteinCoordStr_3=p.P73P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=54420218;refseq.start_2=54420218;refseq.start_3=54420218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:369,167:522:-624.48,-157.22,-1514.02:99 chr16 54420221 . T C 8.19 PASS AC=1;AF=0.50;AN=2;DP=530;Dels=0.00;HRun=0;HaplotypeScore=11.75;MQ=94.62;MQ0=1;OQ=6684.62;QD=12.61;SB=-2042.66;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.216A>G;refseq.codingCoordStr_2=c.219A>G;refseq.codingCoordStr_3=c.216A>G;refseq.codonCoord_1=72;refseq.codonCoord_2=73;refseq.codonCoord_3=72;refseq.end_1=54420221;refseq.end_2=54420221;refseq.end_3=54420221;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=324;refseq.mrnaCoord_2=327;refseq.mrnaCoord_3=324;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E72E;refseq.proteinCoordStr_2=p.E73E;refseq.proteinCoordStr_3=p.E72E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=54420221;refseq.start_2=54420221;refseq.start_3=54420221;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=gatk GT:AD:DP:GL:GQ 0/1:367,162:514:-667.46,-154.80,-1502.25:99 chr16 54420261 . G A 47.47 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=355;Dels=0.00;HRun=1;HaplotypeScore=31.61;MQ=91.24;MQ0=3;QD=0.13;SB=170.52;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.176C>T;refseq.codingCoordStr_2=c.179C>T;refseq.codingCoordStr_3=c.176C>T;refseq.codonCoord_1=59;refseq.codonCoord_2=60;refseq.codonCoord_3=59;refseq.end_1=54420261;refseq.end_2=54420261;refseq.end_3=54420261;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=287;refseq.mrnaCoord_3=284;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P59L;refseq.proteinCoordStr_2=p.P60L;refseq.proteinCoordStr_3=p.P59L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.spliceDist_3=-82;refseq.start_1=54420261;refseq.start_2=54420261;refseq.start_3=54420261;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:329,26:342:-111.01,-102.98,-1295.91:80.31 chr16 54420263 . C G 13 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=2;HaplotypeScore=29.62;MQ=91.03;MQ0=3;OQ=2950.31;QD=8.53;RankSumP=0.463406;SB=-480.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.174G>C;refseq.codingCoordStr_2=c.177G>C;refseq.codingCoordStr_3=c.174G>C;refseq.codonCoord_1=58;refseq.codonCoord_2=59;refseq.codonCoord_3=58;refseq.end_1=54420263;refseq.end_2=54420263;refseq.end_3=54420263;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=282;refseq.mrnaCoord_2=285;refseq.mrnaCoord_3=282;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P58P;refseq.proteinCoordStr_2=p.P59P;refseq.proteinCoordStr_3=p.P58P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.spliceDist_3=-84;refseq.start_1=54420263;refseq.start_2=54420263;refseq.start_3=54420263;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr16 54420292 rs3826193 T C 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=87.70;MQ0=3;OQ=1117.44;QD=5.22;SB=-188.53;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.145A>G;refseq.codingCoordStr_2=c.148A>G;refseq.codingCoordStr_3=c.145A>G;refseq.codonCoord_1=49;refseq.codonCoord_2=50;refseq.codonCoord_3=49;refseq.end_1=54420292;refseq.end_2=54420292;refseq.end_3=54420292;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=253;refseq.mrnaCoord_2=256;refseq.mrnaCoord_3=253;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I49V;refseq.proteinCoordStr_2=p.I50V;refseq.proteinCoordStr_3=p.I49V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=93;refseq.spliceDist_2=96;refseq.spliceDist_3=93;refseq.start_1=54420292;refseq.start_2=54420292;refseq.start_3=54420292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=gatk GT:AD:DP:GL:GQ 0/1:161,49:191:-172.57,-57.54,-597.14:99 chr16 54420325 . C T 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=87.11;MQ0=1;OQ=706.42;QD=6.79;RankSumP=0.452849;SB=-290.29;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.112G>A;refseq.codingCoordStr_2=c.115G>A;refseq.codingCoordStr_3=c.112G>A;refseq.codonCoord_1=38;refseq.codonCoord_2=39;refseq.codonCoord_3=38;refseq.end_1=54420325;refseq.end_2=54420325;refseq.end_3=54420325;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=220;refseq.mrnaCoord_2=223;refseq.mrnaCoord_3=220;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V38I;refseq.proteinCoordStr_2=p.V39I;refseq.proteinCoordStr_3=p.V38I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=60;refseq.spliceDist_2=63;refseq.spliceDist_3=60;refseq.start_1=54420325;refseq.start_2=54420325;refseq.start_3=54420325;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr16 54420337 . G A 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=1.25;MQ=90.10;MQ0=1;OQ=815.40;QD=8.58;RankSumP=0.200553;SB=-398.53;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.100C>T;refseq.codingCoordStr_2=c.103C>T;refseq.codingCoordStr_3=c.100C>T;refseq.codonCoord_1=34;refseq.codonCoord_2=35;refseq.codonCoord_3=34;refseq.end_1=54420337;refseq.end_2=54420337;refseq.end_3=54420337;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=208;refseq.mrnaCoord_2=211;refseq.mrnaCoord_3=208;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L34L;refseq.proteinCoordStr_2=p.L35L;refseq.proteinCoordStr_3=p.L34L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=48;refseq.spliceDist_2=51;refseq.spliceDist_3=48;refseq.start_1=54420337;refseq.start_2=54420337;refseq.start_3=54420337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr16 54420384 . C A 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=93.98;MQ0=0;OQ=465.81;QD=11.65;RankSumP=0.575585;SB=-77.75;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.53G>T;refseq.codingCoordStr_2=c.56G>T;refseq.codingCoordStr_3=c.53G>T;refseq.codonCoord_1=18;refseq.codonCoord_2=19;refseq.codonCoord_3=18;refseq.end_1=54420384;refseq.end_2=54420384;refseq.end_3=54420384;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=161;refseq.mrnaCoord_2=164;refseq.mrnaCoord_3=161;refseq.name2_1=CES1;refseq.name2_2=CES1;refseq.name2_3=CES1;refseq.name_1=NM_001025194;refseq.name_2=NM_001025195;refseq.name_3=NM_001266;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G18V;refseq.proteinCoordStr_2=p.G19V;refseq.proteinCoordStr_3=p.G18V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=1;refseq.spliceDist_2=4;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=54420384;refseq.start_2=54420384;refseq.start_3=54420384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr16 54437981 . A C 241.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.67;MQ0=0;OQ=1596.73;QD=19.01;RankSumP=0.247910;SB=-491.89;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1611T>G;refseq.codingCoordStr_2=c.1461T>G;refseq.codonCoord_1=537;refseq.codonCoord_2=487;refseq.end_1=54437981;refseq.end_2=54437981;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1760;refseq.mrnaCoord_2=1610;refseq.name2_1=CES7;refseq.name2_2=CES7;refseq.name_1=NM_001143685;refseq.name_2=NM_145024;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D537E;refseq.proteinCoordStr_2=p.D487E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.start_1=54437981;refseq.start_2=54437981;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr16 54438035 . G C 229.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.70;MQ0=0;OQ=4278.57;QD=24.04;RankSumP=0.0501084;SB=-1874.09;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1557C>G;refseq.codingCoordStr_2=c.1407C>G;refseq.codonCoord_1=519;refseq.codonCoord_2=469;refseq.end_1=54438035;refseq.end_2=54438035;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1706;refseq.mrnaCoord_2=1556;refseq.name2_1=CES7;refseq.name2_2=CES7;refseq.name_1=NM_001143685;refseq.name_2=NM_145024;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L519L;refseq.proteinCoordStr_2=p.L469L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=54438035;refseq.start_2=54438035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr16 54463137 . A G 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=14.63;MQ=98.47;MQ0=0;OQ=4851.74;QD=28.21;RankSumP=1.00000;SB=-1707.35;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.318T>C;refseq.codingCoordStr_2=c.318T>C;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.end_1=54463137;refseq.end_2=54463137;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=467;refseq.name2_1=CES7;refseq.name2_2=CES7;refseq.name_1=NM_001143685;refseq.name_2=NM_145024;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H106H;refseq.proteinCoordStr_2=p.H106H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=54463137;refseq.start_2=54463137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr16 54463177 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=129;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.85;MQ0=0;OQ=2118.32;QD=16.42;RankSumP=0.258223;SB=-551.93;SecondBestBaseQ=33;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.279-1;refseq.codingCoordStr_2=c.279-1;refseq.end_1=54463177;refseq.end_2=54463177;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CES7;refseq.name2_2=CES7;refseq.name_1=NM_001143685;refseq.name_2=NM_145024;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-acceptor_-1;refseq.spliceInfo_2=splice-acceptor_-1;refseq.start_1=54463177;refseq.start_2=54463177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr16 54926190 . C T 234.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.28;MQ0=0;OQ=1957.94;QD=15.42;RankSumP=0.0958820;SB=-612.14;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.513C>T;refseq.codingCoordStr_2=c.513C>T;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.end_1=54926190;refseq.end_2=54926190;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1410;refseq.mrnaCoord_2=1410;refseq.name2_1=GNAO1;refseq.name2_2=GNAO1;refseq.name_1=NM_020988;refseq.name_2=NM_138736;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T171T;refseq.proteinCoordStr_2=p.T171T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=54926190;refseq.start_2=54926190;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr16 54935249 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=12.37;MQ=99.00;MQ0=0;OQ=3129.14;QD=12.98;RankSumP=0.148997;SB=-989.75;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.951A>G;refseq.codonCoord_2=317;refseq.end_1=54942786;refseq.end_2=54935249;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1848;refseq.name2_1=GNAO1;refseq.name2_2=GNAO1;refseq.name_1=NM_020988;refseq.name_2=NM_138736;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K317K;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=74;refseq.start_1=54928284;refseq.start_2=54935249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr16 55042576 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.96686e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.40C>G;refseq.codonCoord=14;refseq.end=55042576;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_007006;refseq.name2=NUDT21;refseq.positionType=CDS;refseq.proteinCoordStr=p.P14A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-77;refseq.start=55042576;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 55066942 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1431T>G;refseq.codonCoord=477;refseq.end=55066942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1532;refseq.name=NM_018233;refseq.name2=OGFOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G477G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=23;refseq.start=55066942;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 55106002 . C T 263.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=99.00;MQ0=0;OQ=6504.83;QD=42.52;RankSumP=1.00000;SB=-1685.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.209G>A;refseq.codonCoord=70;refseq.end=55106002;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_031885;refseq.name2=BBS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S70N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=92;refseq.start=55106002;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr16 55159221 . A G 284.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=536;Dels=0.00;HRun=0;HaplotypeScore=6.74;MQ=98.44;MQ0=0;OQ=21425.19;QD=39.97;RankSumP=1.00000;SB=-6807.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.89A>G;refseq.codonCoord=30;refseq.end=55159221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_032935;refseq.name2=MT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y30C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=55159221;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr16 55159223 . T C 267.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=98.44;MQ0=0;OQ=18743.67;QD=36.97;RankSumP=1.00000;SB=-5824.62;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.91T>C;refseq.codonCoord=31;refseq.end=55159223;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_032935;refseq.name2=MT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.W31R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=55159223;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr16 55218317 . G A 97.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DP=181;Dels=0.00;HRun=0;HaplotypeScore=5.34;MQ=95.19;MQ0=0;OQ=6864.82;QD=37.93;RankSumP=1.00000;SB=-2733.64;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.119G>A;refseq.codonCoord=40;refseq.end=55218317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_175617;refseq.name2=MT1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.G40D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=25;refseq.start=55218317;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr16 55218342 . C T 129.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=174;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=94.76;MQ0=0;OQ=7015.24;QD=40.32;RankSumP=1.00000;SB=-3086.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=55218342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_175617;refseq.name2=MT1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.C48C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=50;refseq.start=55218342;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr16 55224783 . C A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=74.93;MQ0=48;OQ=7382.43;QD=30.26;RankSumP=1.00000;SB=-3465.77;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.59C>A;refseq.codonCoord=20;refseq.end=55224783;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_176870;refseq.name2=MT1M;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=31;refseq.start=55224783;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr16 55230728 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=8.79;MQ=97.23;MQ0=0;OQ=3220.05;QD=11.80;RankSumP=0.475239;SB=-1427.26;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.80C>A;refseq.codonCoord=27;refseq.end=55230728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_005946;refseq.name2=MT1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T27N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=55230728;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr16 55249471 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=424;Dels=0.00;HRun=0;HaplotypeScore=15.01;MQ=98.78;MQ0=0;OQ=6558.18;QD=15.47;RankSumP=1.12880e-05;SB=-1375.10;SecondBestBaseQ=29;refseq.chr=chr16;refseq.codingCoordStr=c.-1A>T;refseq.end=55249471;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=116;refseq.name=NM_005949;refseq.name2=MT1F;refseq.positionType=utr5;refseq.spliceDist=-29;refseq.start=55249471;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 0/1 chr16 55412997 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=98.58;MQ0=0;OQ=8433.56;QD=22.73;RankSumP=0.471814;SB=-3219.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.645C>G;refseq.codonCoord=215;refseq.end=55412997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_014669;refseq.name2=NUP93;refseq.positionType=CDS;refseq.proteinCoordStr=p.L215L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=55412997;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 55462088 . C G 130.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.99;MQ0=0;OQ=5203.94;QD=47.31;RankSumP=1.00000;SB=-2023.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.791C>G;refseq.codingCoordStr_2=c.788C>G;refseq.codingCoordStr_3=c.791C>G;refseq.codonCoord_1=264;refseq.codonCoord_2=263;refseq.codonCoord_3=264;refseq.end_1=55462088;refseq.end_2=55462088;refseq.end_3=55462088;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=817;refseq.mrnaCoord_3=820;refseq.name2_1=SLC12A3;refseq.name2_2=SLC12A3;refseq.name2_3=SLC12A3;refseq.name_1=NM_000339;refseq.name_2=NM_001126107;refseq.name_3=NM_001126108;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A264G;refseq.proteinCoordStr_2=p.A263G;refseq.proteinCoordStr_3=p.A264G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=55462088;refseq.start_2=55462088;refseq.start_3=55462088;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr16 55470608 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1303A>C;refseq.codingCoordStr_2=c.1300A>C;refseq.codingCoordStr_3=c.1303A>C;refseq.codonCoord_1=435;refseq.codonCoord_2=434;refseq.codonCoord_3=435;refseq.end_1=55470608;refseq.end_2=55470608;refseq.end_3=55470608;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1332;refseq.mrnaCoord_2=1329;refseq.mrnaCoord_3=1332;refseq.name2_1=SLC12A3;refseq.name2_2=SLC12A3;refseq.name2_3=SLC12A3;refseq.name_1=NM_000339;refseq.name_2=NM_001126107;refseq.name_3=NM_001126108;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S435R;refseq.proteinCoordStr_2=p.S434R;refseq.proteinCoordStr_3=p.S435R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=55470608;refseq.start_2=55470608;refseq.start_3=55470608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=FilteredInAll GT 0/1 chr16 55470609 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1304G>C;refseq.codingCoordStr_2=c.1301G>C;refseq.codingCoordStr_3=c.1304G>C;refseq.codonCoord_1=435;refseq.codonCoord_2=434;refseq.codonCoord_3=435;refseq.end_1=55470609;refseq.end_2=55470609;refseq.end_3=55470609;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1333;refseq.mrnaCoord_2=1330;refseq.mrnaCoord_3=1333;refseq.name2_1=SLC12A3;refseq.name2_2=SLC12A3;refseq.name2_3=SLC12A3;refseq.name_1=NM_000339;refseq.name_2=NM_001126107;refseq.name_3=NM_001126108;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S435T;refseq.proteinCoordStr_2=p.S434T;refseq.proteinCoordStr_3=p.S435T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=55470609;refseq.start_2=55470609;refseq.start_3=55470609;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr16 55495821 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.2897T>G;refseq.codingCoordStr_2=c.2894T>G;refseq.codingCoordStr_3=c.2870T>G;refseq.codonCoord_1=966;refseq.codonCoord_2=965;refseq.codonCoord_3=957;refseq.end_1=55495821;refseq.end_2=55495821;refseq.end_3=55495821;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2926;refseq.mrnaCoord_2=2923;refseq.mrnaCoord_3=2899;refseq.name2_1=SLC12A3;refseq.name2_2=SLC12A3;refseq.name2_3=SLC12A3;refseq.name_1=NM_000339;refseq.name_2=NM_001126107;refseq.name_3=NM_001126108;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V966G;refseq.proteinCoordStr_2=p.V965G;refseq.proteinCoordStr_3=p.V957G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=55495821;refseq.start_2=55495821;refseq.start_3=55495821;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr16 55560919 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=7.32332e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.354C>A;refseq.codonCoord=118;refseq.end=55560919;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_000078;refseq.name2=CETP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y118*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-15;refseq.start=55560919;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr16 55573593 . G A 311.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=3.85;MQ=98.64;MQ0=0;OQ=12193.09;QD=39.33;RankSumP=1.00000;SB=-5023.60;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1264G>A;refseq.codonCoord=422;refseq.end=55573593;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1321;refseq.name=NM_000078;refseq.name2=CETP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V422I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=16;refseq.start=55573593;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr16 55617714 . C T 340.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=98.46;MQ0=0;OQ=4656.84;QD=20.61;RankSumP=0.132240;SB=-1493.88;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1358C>T;refseq.codonCoord=453;refseq.end=55617714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1583;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P453L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-718;refseq.start=55617714;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr16 55617841 . T C 103.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.45;MQ0=0;OQ=3182.26;QD=15.83;RankSumP=0.0501015;SB=-976.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1485T>C;refseq.codonCoord=495;refseq.end=55617841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1710;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T495T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-591;refseq.start=55617841;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr16 55617854 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=15.63;MQ=98.50;MQ0=0;OQ=3986.56;QD=17.96;RankSumP=0.152037;SB=-920.16;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1498T>C;refseq.codonCoord=500;refseq.end=55617854;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1723;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C500R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-578;refseq.start=55617854;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr16 55618225 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.91;MQ0=0;OQ=1167.99;QD=17.18;RankSumP=0.156110;SB=-103.60;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1869G>A;refseq.codonCoord=623;refseq.end=55618225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2094;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q623Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-207;refseq.start=55618225;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 55625608 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=14.88;MQ=98.32;MQ0=0;OQ=2475.83;QD=12.08;RankSumP=0.0539243;SB=-1028.61;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2571C>T;refseq.codonCoord=857;refseq.end=55625608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2796;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H857H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=28;refseq.start=55625608;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr16 55628614 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DP=111;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=95.65;MQ0=0;OQ=3198.89;QD=28.82;RankSumP=1.00000;SB=-1108.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2718T>C;refseq.codonCoord=906;refseq.end=55628614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2943;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S906S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=55628614;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 55628615 . A G 53.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=95.74;MQ0=0;OQ=3132.90;QD=26.55;RankSumP=1.00000;SB=-1170.25;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2719A>G;refseq.codonCoord=907;refseq.end=55628615;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2944;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N907D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=55628615;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr16 55632907 . T C 223.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=98.47;MQ0=0;OQ=4350.04;QD=19.59;RankSumP=0.355353;SB=-1139.15;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2949T>C;refseq.codonCoord=983;refseq.end=55632907;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3174;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H983H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=55632907;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 55649478 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.58;MQ0=0;OQ=1521.44;QD=12.89;RankSumP=0.277745;SB=-451.13;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3747T>C;refseq.codonCoord=1249;refseq.end=55649478;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3972;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1249D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=55649478;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr16 55658841 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=5.42;MQ=97.93;MQ0=0;OQ=802.39;QD=7.87;RankSumP=0.400511;SB=-300.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4364T>C;refseq.codonCoord=1455;refseq.end=55658841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4589;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1455A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=42;refseq.start=55658841;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 55658874 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=6.74;MQ=97.63;MQ0=0;OQ=446.94;QD=6.38;RankSumP=0.502125;SB=-80.73;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4397A>G;refseq.codonCoord=1466;refseq.end=55658874;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4622;refseq.name=NM_032206;refseq.name2=NLRC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1466R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=55658874;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr16 55841231 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=495;Dels=0.00;HRun=1;HaplotypeScore=8.68;MQ=98.86;MQ0=0;OQ=9777.12;QD=19.75;RankSumP=0.303276;SB=-3748.19;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.259G>A;refseq.codonCoord=87;refseq.end=55841231;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_012106;refseq.name2=ARL2BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E87K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-35;refseq.start=55841231;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr16 55841848 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.318T>G;refseq.codonCoord=106;refseq.end=55841848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_012106;refseq.name2=ARL2BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G106G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=25;refseq.start=55841848;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 55853413 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.206T>G;refseq.codonCoord=69;refseq.end=55853413;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_015993;refseq.name2=PLLP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=71;refseq.start=55853413;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 55950234 . A C 445.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.86;MQ0=0;OQ=5710.85;QD=39.94;RankSumP=1.00000;SB=-1485.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.5A>C;refseq.codonCoord=2;refseq.end=55950234;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=16;refseq.name=NM_002990;refseq.name2=CCL22;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=16;refseq.start=55950234;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr16 55954950 . C T 174.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=5473.97;QD=20.58;RankSumP=0.156600;SB=-2240.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=55954950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=242;refseq.name=NM_002990;refseq.name2=CCL22;refseq.positionType=CDS;refseq.proteinCoordStr=p.A77A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=34;refseq.start=55954950;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr16 56032188 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.82;MQ0=0;OQ=2536.55;QD=19.51;RankSumP=0.193520;SB=-954.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.154C>G;refseq.codonCoord=52;refseq.end=56032188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_020313;refseq.name2=CIAPIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q52E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=56032188;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr16 56057403 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=462;Dels=0.00;HRun=1;HaplotypeScore=4.01;MQ=98.71;MQ0=0;OQ=19422.87;QD=42.04;RankSumP=1.00000;SB=-9138.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.174T>C;refseq.codonCoord=58;refseq.end=56057403;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_032940;refseq.name2=POLR2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V58V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-32;refseq.start=56057403;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr16 56120305 . G A 367.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=96.90;MQ0=0;OQ=1332.26;QD=37.01;RankSumP=1.00000;SB=-485.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.286C>T;refseq.codonCoord=96;refseq.end=56120305;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=499;refseq.name=NM_033212;refseq.name2=CCDC102A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R96W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-300;refseq.start=56120305;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr16 56154577 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.214A>C;refseq.codonCoord=72;refseq.end=56154577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_153837;refseq.name2=GPR114;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=74;refseq.start=56154577;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 56166279 . C T 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.212726;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1260C>T;refseq.codonCoord=420;refseq.end=56166279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1783;refseq.name=NM_153837;refseq.name2=GPR114;refseq.positionType=CDS;refseq.proteinCoordStr=p.G420G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=52;refseq.start=56166279;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr16 56246886 . C G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=62;Dels=0.00;HRun=4;HaplotypeScore=1.27;MQ=98.85;MQ0=0;OQ=2722.54;QD=43.91;RankSumP=1.00000;SB=-766.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_1=c.843C>G;refseq.codingCoordStr_2=c.843C>G;refseq.codingCoordStr_3=c.843C>G;refseq.codingCoordStr_4=c.858C>G;refseq.codingCoordStr_5=c.843C>G;refseq.codingCoordStr_6=c.843C>G;refseq.codingCoordStr_7=c.843C>G;refseq.codingCoordStr_8=c.843C>G;refseq.codonCoord_1=281;refseq.codonCoord_2=281;refseq.codonCoord_3=281;refseq.codonCoord_4=286;refseq.codonCoord_5=281;refseq.codonCoord_6=281;refseq.codonCoord_7=281;refseq.codonCoord_8=281;refseq.end_1=56246886;refseq.end_2=56246886;refseq.end_3=56246886;refseq.end_4=56246886;refseq.end_5=56246886;refseq.end_6=56246886;refseq.end_7=56246886;refseq.end_8=56246886;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1135;refseq.mrnaCoord_2=1292;refseq.mrnaCoord_3=1318;refseq.mrnaCoord_4=1189;refseq.mrnaCoord_5=1372;refseq.mrnaCoord_6=1135;refseq.mrnaCoord_7=1296;refseq.mrnaCoord_8=1174;refseq.name2_1=GPR56;refseq.name2_2=GPR56;refseq.name2_3=GPR56;refseq.name2_4=GPR56;refseq.name2_5=GPR56;refseq.name2_6=GPR56;refseq.name2_7=GPR56;refseq.name2_8=GPR56;refseq.name_1=NM_001145770;refseq.name_2=NM_001145771;refseq.name_3=NM_001145772;refseq.name_4=NM_001145773;refseq.name_5=NM_001145774;refseq.name_6=NM_005682;refseq.name_7=NM_201524;refseq.name_8=NM_201525;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S281R;refseq.proteinCoordStr_2=p.S281R;refseq.proteinCoordStr_3=p.S281R;refseq.proteinCoordStr_4=p.S286R;refseq.proteinCoordStr_5=p.S281R;refseq.proteinCoordStr_6=p.S281R;refseq.proteinCoordStr_7=p.S281R;refseq.proteinCoordStr_8=p.S281R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.referenceCodon_7=AGC;refseq.referenceCodon_8=AGC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.spliceDist_5=-58;refseq.spliceDist_6=-58;refseq.spliceDist_7=-58;refseq.spliceDist_8=-58;refseq.start_1=56246886;refseq.start_2=56246886;refseq.start_3=56246886;refseq.start_4=56246886;refseq.start_5=56246886;refseq.start_6=56246886;refseq.start_7=56246886;refseq.start_8=56246886;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;refseq.variantCodon_5=AGG;refseq.variantCodon_6=AGG;refseq.variantCodon_7=AGG;refseq.variantCodon_8=AGG;set=Intersection GT 1/1 chr16 56247306 . A C 186.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.80;MQ0=0;OQ=2033.72;QD=13.29;RankSumP=0.170740;SB=-903.43;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_1=c.918A>C;refseq.codingCoordStr_2=c.918A>C;refseq.codingCoordStr_3=c.918A>C;refseq.codingCoordStr_4=c.933A>C;refseq.codingCoordStr_5=c.918A>C;refseq.codingCoordStr_6=c.918A>C;refseq.codingCoordStr_7=c.918A>C;refseq.codingCoordStr_8=c.918A>C;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.codonCoord_3=306;refseq.codonCoord_4=311;refseq.codonCoord_5=306;refseq.codonCoord_6=306;refseq.codonCoord_7=306;refseq.codonCoord_8=306;refseq.end_1=56247306;refseq.end_2=56247306;refseq.end_3=56247306;refseq.end_4=56247306;refseq.end_5=56247306;refseq.end_6=56247306;refseq.end_7=56247306;refseq.end_8=56247306;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1210;refseq.mrnaCoord_2=1367;refseq.mrnaCoord_3=1393;refseq.mrnaCoord_4=1264;refseq.mrnaCoord_5=1447;refseq.mrnaCoord_6=1210;refseq.mrnaCoord_7=1371;refseq.mrnaCoord_8=1249;refseq.name2_1=GPR56;refseq.name2_2=GPR56;refseq.name2_3=GPR56;refseq.name2_4=GPR56;refseq.name2_5=GPR56;refseq.name2_6=GPR56;refseq.name2_7=GPR56;refseq.name2_8=GPR56;refseq.name_1=NM_001145770;refseq.name_2=NM_001145771;refseq.name_3=NM_001145772;refseq.name_4=NM_001145773;refseq.name_5=NM_001145774;refseq.name_6=NM_005682;refseq.name_7=NM_201524;refseq.name_8=NM_201525;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.Q306H;refseq.proteinCoordStr_2=p.Q306H;refseq.proteinCoordStr_3=p.Q306H;refseq.proteinCoordStr_4=p.Q311H;refseq.proteinCoordStr_5=p.Q306H;refseq.proteinCoordStr_6=p.Q306H;refseq.proteinCoordStr_7=p.Q306H;refseq.proteinCoordStr_8=p.Q306H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceAA_8=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.referenceCodon_6=CAA;refseq.referenceCodon_7=CAA;refseq.referenceCodon_8=CAA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.spliceDist_5=18;refseq.spliceDist_6=18;refseq.spliceDist_7=18;refseq.spliceDist_8=18;refseq.start_1=56247306;refseq.start_2=56247306;refseq.start_3=56247306;refseq.start_4=56247306;refseq.start_5=56247306;refseq.start_6=56247306;refseq.start_7=56247306;refseq.start_8=56247306;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantAA_8=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;refseq.variantCodon_8=CAC;set=Intersection GT 0/1 chr16 56247384 . T C 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=160;Dels=0.00;HRun=1;HaplotypeScore=31.21;MQ=97.95;MQ0=0;OQ=3937.92;QD=24.61;RankSumP=1.00000;SB=-789.14;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_1=c.996T>C;refseq.codingCoordStr_2=c.996T>C;refseq.codingCoordStr_3=c.996T>C;refseq.codingCoordStr_4=c.1011T>C;refseq.codingCoordStr_5=c.996T>C;refseq.codingCoordStr_6=c.996T>C;refseq.codingCoordStr_7=c.996T>C;refseq.codingCoordStr_8=c.996T>C;refseq.codonCoord_1=332;refseq.codonCoord_2=332;refseq.codonCoord_3=332;refseq.codonCoord_4=337;refseq.codonCoord_5=332;refseq.codonCoord_6=332;refseq.codonCoord_7=332;refseq.codonCoord_8=332;refseq.end_1=56247384;refseq.end_2=56247384;refseq.end_3=56247384;refseq.end_4=56247384;refseq.end_5=56247384;refseq.end_6=56247384;refseq.end_7=56247384;refseq.end_8=56247384;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1288;refseq.mrnaCoord_2=1445;refseq.mrnaCoord_3=1471;refseq.mrnaCoord_4=1342;refseq.mrnaCoord_5=1525;refseq.mrnaCoord_6=1288;refseq.mrnaCoord_7=1449;refseq.mrnaCoord_8=1327;refseq.name2_1=GPR56;refseq.name2_2=GPR56;refseq.name2_3=GPR56;refseq.name2_4=GPR56;refseq.name2_5=GPR56;refseq.name2_6=GPR56;refseq.name2_7=GPR56;refseq.name2_8=GPR56;refseq.name_1=NM_001145770;refseq.name_2=NM_001145771;refseq.name_3=NM_001145772;refseq.name_4=NM_001145773;refseq.name_5=NM_001145774;refseq.name_6=NM_005682;refseq.name_7=NM_201524;refseq.name_8=NM_201525;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T332T;refseq.proteinCoordStr_2=p.T332T;refseq.proteinCoordStr_3=p.T332T;refseq.proteinCoordStr_4=p.T337T;refseq.proteinCoordStr_5=p.T332T;refseq.proteinCoordStr_6=p.T332T;refseq.proteinCoordStr_7=p.T332T;refseq.proteinCoordStr_8=p.T332T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.referenceCodon_6=ACT;refseq.referenceCodon_7=ACT;refseq.referenceCodon_8=ACT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.spliceDist_5=-22;refseq.spliceDist_6=-22;refseq.spliceDist_7=-22;refseq.spliceDist_8=-22;refseq.start_1=56247384;refseq.start_2=56247384;refseq.start_3=56247384;refseq.start_4=56247384;refseq.start_5=56247384;refseq.start_6=56247384;refseq.start_7=56247384;refseq.start_8=56247384;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;refseq.variantCodon_8=ACC;set=Intersection GT 1/1 chr16 56279829 . C T 175.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.39;MQ0=0;OQ=6387.30;QD=21.22;RankSumP=0.370754;SB=-2441.22;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1605C>T;refseq.codonCoord=535;refseq.end=56279829;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_170776;refseq.name2=GPR97;refseq.positionType=CDS;refseq.proteinCoordStr=p.S535S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=65;refseq.start=56279829;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr16 56289513 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.76;MQ0=0;OQ=1526.26;QD=12.93;RankSumP=0.0358422;SB=-233.65;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.151G>A;refseq.codonCoord=51;refseq.end=56289513;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_032269;refseq.name2=CCDC135;refseq.positionType=CDS;refseq.proteinCoordStr=p.D51N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-53;refseq.start=56289513;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr16 56290363 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.304T>C;refseq.codonCoord=102;refseq.end=56290363;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_032269;refseq.name2=CCDC135;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-75;refseq.start=56290363;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 56319837 . T G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.107779;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2231T>G;refseq.codonCoord=744;refseq.end=56319837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2320;refseq.name=NM_032269;refseq.name2=CCDC135;refseq.positionType=CDS;refseq.proteinCoordStr=p.V744G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=56319837;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr16 56344212 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=7.64;MQ=98.20;MQ0=0;OQ=792.42;QD=10.57;RankSumP=0.00895098;SB=-149.61;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.726C>T;refseq.codonCoord=242;refseq.end=56344212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_005886;refseq.name2=KATNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D242D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=22;refseq.start=56344212;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 0/1 chr16 56352895 . G A 230.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=16.50;MQ=98.47;MQ0=0;OQ=6549.44;QD=21.26;RankSumP=0.373963;SB=-1980.53;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1386C>T;refseq.codingCoordStr_2=c.1803C>T;refseq.codingCoordStr_3=c.1803C>T;refseq.codonCoord_1=462;refseq.codonCoord_2=601;refseq.codonCoord_3=601;refseq.end_1=56352895;refseq.end_2=56352895;refseq.end_3=56352895;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1944;refseq.mrnaCoord_2=2000;refseq.mrnaCoord_3=2000;refseq.name2_1=KIFC3;refseq.name2_2=KIFC3;refseq.name2_3=KIFC3;refseq.name_1=NM_001130099;refseq.name_2=NM_001130100;refseq.name_3=NM_005550;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D462D;refseq.proteinCoordStr_2=p.D601D;refseq.proteinCoordStr_3=p.D601D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=56352895;refseq.start_2=56352895;refseq.start_3=56352895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr16 56361060 . A C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=7.69072e-07;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.749T>G;refseq.codingCoordStr_2=c.1166T>G;refseq.codingCoordStr_3=c.1166T>G;refseq.codonCoord_1=250;refseq.codonCoord_2=389;refseq.codonCoord_3=389;refseq.end_1=56361060;refseq.end_2=56361060;refseq.end_3=56361060;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1307;refseq.mrnaCoord_2=1363;refseq.mrnaCoord_3=1363;refseq.name2_1=KIFC3;refseq.name2_2=KIFC3;refseq.name2_3=KIFC3;refseq.name_1=NM_001130099;refseq.name_2=NM_001130100;refseq.name_3=NM_005550;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V250G;refseq.proteinCoordStr_2=p.V389G;refseq.proteinCoordStr_3=p.V389G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.start_1=56361060;refseq.start_2=56361060;refseq.start_3=56361060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr16 56362677 . A G 194.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.71;MQ0=0;OQ=1800.04;QD=30.51;RankSumP=1.00000;SB=-834.15;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.282T>C;refseq.codingCoordStr_2=c.699T>C;refseq.codingCoordStr_3=c.699T>C;refseq.codonCoord_1=94;refseq.codonCoord_2=233;refseq.codonCoord_3=233;refseq.end_1=56362677;refseq.end_2=56362677;refseq.end_3=56362677;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=896;refseq.mrnaCoord_3=896;refseq.name2_1=KIFC3;refseq.name2_2=KIFC3;refseq.name2_3=KIFC3;refseq.name_1=NM_001130099;refseq.name_2=NM_001130100;refseq.name_3=NM_005550;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L94L;refseq.proteinCoordStr_2=p.L233L;refseq.proteinCoordStr_3=p.L233L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=56362677;refseq.start_2=56362677;refseq.start_3=56362677;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/1 chr16 56495357 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=6.28;MQ=97.53;MQ0=0;OQ=1566.23;QD=14.78;RankSumP=0.314348;SB=-778.44;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2664C>G;refseq.codonCoord=888;refseq.end=56495357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2729;refseq.name=NM_001297;refseq.name2=CNGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A888A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=30;refseq.start=56495357;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr16 56511949 . A G 175.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.47;MQ0=0;OQ=1513.63;QD=14.42;RankSumP=0.351166;SB=-354.25;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1644T>C;refseq.codonCoord=548;refseq.end=56511949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1709;refseq.name=NM_001297;refseq.name2=CNGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D548D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=56511949;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr16 56552291 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.488A>G;refseq.codingCoordStr_2=c.488A>G;refseq.codonCoord_1=163;refseq.codonCoord_2=163;refseq.end_1=56552291;refseq.end_2=56552291;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=553;refseq.mrnaCoord_2=553;refseq.name2_1=CNGB1;refseq.name2_2=CNGB1;refseq.name_1=NM_001135639;refseq.name_2=NM_001297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E163G;refseq.proteinCoordStr_2=p.E163G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=56552291;refseq.start_2=56552291;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 56554433 . G A 385.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.75;MQ0=0;OQ=4555.43;QD=35.87;RankSumP=1.00000;SB=-2256.37;SecondBestBaseQ=3;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.327C>T;refseq.codingCoordStr_2=c.327C>T;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=56554433;refseq.end_2=56554433;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=392;refseq.mrnaCoord_2=392;refseq.name2_1=CNGB1;refseq.name2_2=CNGB1;refseq.name_1=NM_001135639;refseq.name_2=NM_001297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G109G;refseq.proteinCoordStr_2=p.G109G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=56554433;refseq.start_2=56554433;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr16 56554461 . C T 432.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=99.00;MQ0=0;OQ=3686.87;QD=39.64;RankSumP=1.00000;SB=-1211.60;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.299G>A;refseq.codingCoordStr_2=c.299G>A;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=56554461;refseq.end_2=56554461;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=364;refseq.mrnaCoord_2=364;refseq.name2_1=CNGB1;refseq.name2_2=CNGB1;refseq.name_1=NM_001135639;refseq.name_2=NM_001297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R100H;refseq.proteinCoordStr_2=p.R100H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=56554461;refseq.start_2=56554461;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr16 56555912 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.197T>G;refseq.codingCoordStr_2=c.197T>G;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.end_1=56555912;refseq.end_2=56555912;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=262;refseq.mrnaCoord_2=262;refseq.name2_1=CNGB1;refseq.name2_2=CNGB1;refseq.name_1=NM_001135639;refseq.name_2=NM_001297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V66G;refseq.proteinCoordStr_2=p.V66G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=56555912;refseq.start_2=56555912;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 56576104 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.298605;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.514G>A;refseq.codingCoordStr_2=c.514G>A;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=56576104;refseq.end_2=56576104;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=551;refseq.name2_1=TEPP;refseq.name2_2=TEPP;refseq.name_1=NM_199046;refseq.name_2=NM_199456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A172T;refseq.proteinCoordStr_2=p.A172T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.start_1=56576104;refseq.start_2=56576104;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT 1/0 chr16 56576897 . G A 102.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=1169.13;QD=32.48;RankSumP=1.00000;SB=-456.61;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.779G>A;refseq.codingCoordStr_2=c.698G>A;refseq.codonCoord_1=260;refseq.codonCoord_2=233;refseq.end_1=56576897;refseq.end_2=56576897;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=816;refseq.mrnaCoord_2=735;refseq.name2_1=TEPP;refseq.name2_2=TEPP;refseq.name_1=NM_199046;refseq.name_2=NM_199456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S260N;refseq.proteinCoordStr_2=p.S233N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-55;refseq.spliceDist_2=11;refseq.start_1=56576897;refseq.start_2=56576897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr16 56588135 . C T 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=14.13;MQ=96.78;MQ0=0;OQ=1525.14;QD=23.11;RankSumP=1.00000;SB=-747.37;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1536G>A;refseq.codonCoord=512;refseq.end=56588135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2159;refseq.name=NM_020807;refseq.name2=ZNF319;refseq.positionType=CDS;refseq.proteinCoordStr=p.K512K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1793;refseq.start=56588135;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr16 56589527 . G A 173.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=97.29;MQ0=0;OQ=2143.12;QD=33.49;RankSumP=1.00000;SB=-796.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=56589527;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_020807;refseq.name2=ZNF319;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=401;refseq.start=56589527;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr16 56628900 . C A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=1;RankSumP=0.00171243;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.186C>A;refseq.codonCoord=62;refseq.end=56628900;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_002428;refseq.name2=MMP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y62*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=24;refseq.start=56628900;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr16 56633048 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.000155400;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.937A>C;refseq.codonCoord=313;refseq.end=56633048;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1910;refseq.name=NM_002428;refseq.name2=MMP15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T313P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=27;refseq.start=56633048;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 56871934 . T C 228.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=98.58;MQ0=0;OQ=2750.58;QD=15.11;RankSumP=0.164909;SB=-644.62;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.883A>G;refseq.codingCoordStr_2=c.*752T>C;refseq.codingCoordStr_3=c.*752T>C;refseq.codonCoord_1=295;refseq.end_1=56871934;refseq.end_2=56871934;refseq.end_3=56871934;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1278;refseq.mrnaCoord_2=1803;refseq.mrnaCoord_3=1965;refseq.name2_1=KLKBL4;refseq.name2_2=CCDC113;refseq.name2_3=CCDC113;refseq.name_1=NM_001080492;refseq.name_2=NM_001142302;refseq.name_3=NM_014157;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.T295A;refseq.referenceAA_1=Thr;refseq.referenceCodon_1=ACC;refseq.spliceDist_1=229;refseq.spliceDist_2=839;refseq.spliceDist_3=839;refseq.start_1=56871934;refseq.start_2=56871934;refseq.start_3=56871934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCC;set=Intersection GT 1/0 chr16 56872099 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=12.69;MQ=98.89;MQ0=0;OQ=3032.85;QD=16.22;RankSumP=0.0584788;SB=-1111.78;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.718G>A;refseq.codingCoordStr_2=c.*917C>T;refseq.codingCoordStr_3=c.*917C>T;refseq.codonCoord_1=240;refseq.end_1=56872099;refseq.end_2=56872099;refseq.end_3=56872099;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1968;refseq.mrnaCoord_3=2130;refseq.name2_1=KLKBL4;refseq.name2_2=CCDC113;refseq.name2_3=CCDC113;refseq.name_1=NM_001080492;refseq.name_2=NM_001142302;refseq.name_3=NM_014157;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.proteinCoordStr_1=p.V240I;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTC;refseq.spliceDist_1=64;refseq.spliceDist_2=1004;refseq.spliceDist_3=1004;refseq.start_1=56872099;refseq.start_2=56872099;refseq.start_3=56872099;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantCodon_1=ATC;set=Intersection GT 0/1 chr16 56876105 . T C 247.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=98.27;MQ0=0;OQ=5910.48;QD=18.41;RankSumP=0.328671;SB=-2206.45;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.544A>G;refseq.codonCoord=182;refseq.end=56876105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_001080492;refseq.name2=KLKBL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S182G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=22;refseq.start=56876105;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr16 56885147 . A G 401.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.34;MQ0=0;OQ=3110.53;QD=37.03;RankSumP=1.00000;SB=-972.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.75T>C;refseq.codonCoord=25;refseq.end=56885147;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_001080492;refseq.name2=KLKBL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y25Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-11;refseq.start=56885147;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr16 57100402 . G A 124 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=4.48;MQ=98.87;MQ0=0;OQ=2195.32;QD=12.54;RankSumP=0.115631;SB=-841.40;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.921G>A;refseq.codingCoordStr_2=c.861G>A;refseq.codingCoordStr_3=c.861G>A;refseq.codonCoord_1=307;refseq.codonCoord_2=287;refseq.codonCoord_3=287;refseq.end_1=57100402;refseq.end_2=57100402;refseq.end_3=57100402;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1262;refseq.mrnaCoord_2=1037;refseq.mrnaCoord_3=1095;refseq.name2_1=NDRG4;refseq.name2_2=NDRG4;refseq.name2_3=NDRG4;refseq.name_1=NM_001130487;refseq.name_2=NM_020465;refseq.name_3=NM_022910;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T307T;refseq.proteinCoordStr_2=p.T287T;refseq.proteinCoordStr_3=p.T287T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=57100402;refseq.start_2=57100402;refseq.start_3=57100402;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr16 57102927 . A G 163.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.53;MQ0=0;OQ=3987.01;QD=32.68;RankSumP=1.00000;SB=-1322.87;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1122A>G;refseq.codingCoordStr_2=c.1062A>G;refseq.codingCoordStr_3=c.1062A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=354;refseq.codonCoord_3=354;refseq.end_1=57102927;refseq.end_2=57102927;refseq.end_3=57102927;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1463;refseq.mrnaCoord_2=1238;refseq.mrnaCoord_3=1296;refseq.name2_1=NDRG4;refseq.name2_2=NDRG4;refseq.name2_3=NDRG4;refseq.name_1=NM_001130487;refseq.name_2=NM_020465;refseq.name_3=NM_022910;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S374S;refseq.proteinCoordStr_2=p.S354S;refseq.proteinCoordStr_3=p.S354S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.spliceDist_3=101;refseq.start_1=57102927;refseq.start_2=57102927;refseq.start_3=57102927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr16 57107433 . T C 130.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.75;MQ0=0;OQ=551.50;QD=30.64;RankSumP=1.00000;SB=-168.73;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.265T>C;refseq.codingCoordStr_2=c.193T>C;refseq.codonCoord_1=89;refseq.codonCoord_2=65;refseq.end_1=57107433;refseq.end_2=57107433;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=324;refseq.mrnaCoord_2=252;refseq.name2_1=SETD6;refseq.name2_2=SETD6;refseq.name_1=NM_001160305;refseq.name_2=NM_024860;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L89L;refseq.proteinCoordStr_2=p.L65L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=57107433;refseq.start_2=57107433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr16 57109471 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.808G>T;refseq.codingCoordStr_2=c.736G>T;refseq.codonCoord_1=270;refseq.codonCoord_2=246;refseq.end_1=57109471;refseq.end_2=57109471;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=867;refseq.mrnaCoord_2=795;refseq.name2_1=SETD6;refseq.name2_2=SETD6;refseq.name_1=NM_001160305;refseq.name_2=NM_024860;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V270L;refseq.proteinCoordStr_2=p.V246L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=57109471;refseq.start_2=57109471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT 0/1 chr16 57110422 . G A 188.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4588.80;QD=42.10;RankSumP=1.00000;SB=-1268.73;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1410G>A;refseq.codingCoordStr_2=c.1338G>A;refseq.codonCoord_1=470;refseq.codonCoord_2=446;refseq.end_1=57110422;refseq.end_2=57110422;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1469;refseq.mrnaCoord_2=1397;refseq.name2_1=SETD6;refseq.name2_2=SETD6;refseq.name_1=NM_001160305;refseq.name_2=NM_024860;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E470E;refseq.proteinCoordStr_2=p.E446E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=294;refseq.spliceDist_2=294;refseq.start_1=57110422;refseq.start_2=57110422;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr16 57117542 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6455T>G;refseq.codonCoord=2152;refseq.end=57117542;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6748;refseq.name=NM_016284;refseq.name2=CNOT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2152G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=57117542;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 57132990 . G A 160.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=98.73;MQ0=0;OQ=2478.21;QD=15.39;RankSumP=0.295568;SB=-976.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4716C>T;refseq.codonCoord=1572;refseq.end=57132990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5009;refseq.name=NM_016284;refseq.name2=CNOT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1572Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=36;refseq.start=57132990;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr16 57136775 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=467;Dels=0.00;HRun=2;HaplotypeScore=11.26;MQ=98.89;MQ0=0;OQ=9222.47;QD=19.75;RankSumP=0.452722;SB=-2838.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.4128G>A;refseq.codingCoordStr_2=c.4128G>A;refseq.codonCoord_1=1376;refseq.codonCoord_2=1376;refseq.end_1=57136775;refseq.end_2=57136775;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4421;refseq.mrnaCoord_2=4421;refseq.name2_1=CNOT1;refseq.name2_2=CNOT1;refseq.name_1=NM_016284;refseq.name_2=NM_206999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1376L;refseq.proteinCoordStr_2=p.L1376L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=57136775;refseq.start_2=57136775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr16 57136844 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.4059A>C;refseq.codingCoordStr_2=c.4059A>C;refseq.codonCoord_1=1353;refseq.codonCoord_2=1353;refseq.end_1=57136844;refseq.end_2=57136844;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4352;refseq.mrnaCoord_2=4352;refseq.name2_1=CNOT1;refseq.name2_2=CNOT1;refseq.name_1=NM_016284;refseq.name_2=NM_206999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1353P;refseq.proteinCoordStr_2=p.P1353P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=57136844;refseq.start_2=57136844;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr16 57145238 . C T 184.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=7.82;MQ=98.87;MQ0=0;OQ=6234.86;QD=17.92;RankSumP=0.106898;SB=-2492.81;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2919G>A;refseq.codingCoordStr_2=c.2919G>A;refseq.codonCoord_1=973;refseq.codonCoord_2=973;refseq.end_1=57145238;refseq.end_2=57145238;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3212;refseq.mrnaCoord_2=3212;refseq.name2_1=CNOT1;refseq.name2_2=CNOT1;refseq.name_1=NM_016284;refseq.name_2=NM_206999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q973Q;refseq.proteinCoordStr_2=p.Q973Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=57145238;refseq.start_2=57145238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr16 57190669 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.74A>C;refseq.codingCoordStr_2=c.74A>C;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=57190669;refseq.end_2=57190669;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=367;refseq.mrnaCoord_2=367;refseq.name2_1=CNOT1;refseq.name2_2=CNOT1;refseq.name_1=NM_016284;refseq.name_2=NM_206999;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y25S;refseq.proteinCoordStr_2=p.Y25S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=57190669;refseq.start_2=57190669;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr16 57299631 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1238T>G;refseq.codonCoord=413;refseq.end=57299631;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1352;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V413G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=68;refseq.start=57299631;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr16 57300955 . A C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=507;Dels=0.00;HRun=1;HaplotypeScore=6.15;MQ=98.22;MQ0=0;OQ=20105.40;QD=39.66;RankSumP=1.00000;SB=-8744.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1037T>G;refseq.codonCoord=346;refseq.end=57300955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V346G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=18;refseq.start=57300955;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr16 57308105 . G A 122.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=12.18;MQ=86.53;MQ0=5;OQ=6783.37;QD=38.54;RankSumP=1.00000;SB=-2462.26;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.816C>T;refseq.codonCoord=272;refseq.end=57308105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C272C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-38;refseq.start=57308105;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr16 57313553 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr16;refseq.codingCoordStr=c.375+2;refseq.end=57313553;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=57313553;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr16 57315169 . A C 31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1040;Dels=0.00;HRun=0;HaplotypeScore=16.51;MQ=97.16;MQ0=0;OQ=42470.20;QD=40.84;RankSumP=1.00000;SB=-18806.72;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.228T>G;refseq.codonCoord=76;refseq.end=57315169;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=342;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V76V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-19;refseq.start=57315169;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/1 chr16 57315184 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=1080;Dels=0.00;HRun=0;HaplotypeScore=33.53;MQ=94.63;MQ0=7;OQ=40472.26;QD=37.47;RankSumP=1.00000;SB=-18840.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.213T>C;refseq.codonCoord=71;refseq.end=57315184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_002080;refseq.name2=GOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N71N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-34;refseq.start=57315184;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap-filterIngatk GT 1/1 chr16 60409050 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1111C>G;refseq.codonCoord=371;refseq.end=60409050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_001796;refseq.name2=CDH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P371A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=88;refseq.start=60409050;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr16 65179343 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.567A>G;refseq.codonCoord=189;refseq.end=65179343;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=727;refseq.name=NM_144673;refseq.name2=CMTM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G189G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=21;refseq.start=65179343;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 65319629 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1119A>C;refseq.codonCoord=373;refseq.end=65319629;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1150;refseq.name=NM_006141;refseq.name2=DYNC1LI2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q373H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=18;refseq.start=65319629;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/0 chr16 65418123 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.97A>C;refseq.codingCoordStr_3=c.115A>C;refseq.codonCoord_2=33;refseq.codonCoord_3=39;refseq.end_1=65422240;refseq.end_2=65418123;refseq.end_3=65418123;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=290;refseq.mrnaCoord_3=192;refseq.name2_1=NAE1;refseq.name2_2=NAE1;refseq.name2_3=NAE1;refseq.name_1=NM_001018160;refseq.name_2=NM_001018159;refseq.name_3=NM_003905;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T33P;refseq.proteinCoordStr_3=p.T39P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=65417998;refseq.start_2=65418123;refseq.start_3=65418123;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr16 65444857 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.582A>C;refseq.codingCoordStr_2=c.750A>C;refseq.codonCoord_1=194;refseq.codonCoord_2=250;refseq.end_1=65444857;refseq.end_2=65444857;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1007;refseq.mrnaCoord_2=859;refseq.name2_1=CA7;refseq.name2_2=CA7;refseq.name_1=NM_001014435;refseq.name_2=NM_005182;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P194P;refseq.proteinCoordStr_2=p.P250P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=65444857;refseq.start_2=65444857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr16 65477166 . C G 97 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=60;Dels=0.00;HRun=2;HaplotypeScore=12.43;MQ=96.51;MQ0=0;QD=0.46;RankSumP=8.16996e-07;SB=20.10;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1478C>G;refseq.codonCoord=493;refseq.end=65477166;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_020786;refseq.name2=PDP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A493G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=1532;refseq.start=65477166;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 65594555 . A C 181.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=14.92;MQ=98.90;MQ0=0;OQ=6008.80;QD=16.69;RankSumP=0.399137;SB=-2204.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.772A>C;refseq.codonCoord=258;refseq.end=65594555;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_173815;refseq.name2=CES8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S258R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-24;refseq.start=65594555;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr16 65771976 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=6;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.39A>C;refseq.codonCoord=13;refseq.end=65771976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_001040715;refseq.name2=KIAA0895L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A13A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=95;refseq.start=65771976;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 65784445 . T C 14.83 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=95.46;MQ0=0;QD=0.82;SB=-27.61;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.278T>C;refseq.codonCoord=93;refseq.end=65784445;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_001950;refseq.name2=E2F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I93T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=33;refseq.start=65784445;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:14,2:13:-8.67,-3.92,-42.86:47.52 chr16 65793173 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.70;MQ0=0;OQ=1048.03;QD=12.05;RankSumP=0.0236098;SB=-405.69;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1105C>T;refseq.codonCoord=369;refseq.end=65793173;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1148;refseq.name=NM_024712;refseq.name2=ELMO3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R369C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=28;refseq.start=65793173;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr16 65830805 . C A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.497738;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.255G>T;refseq.codonCoord=85;refseq.end=65830805;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_013241;refseq.name2=FHOD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E85D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=54;refseq.start=65830805;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr16 65875827 . C G 22.24 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=76;Dels=0.00;HRun=2;HaplotypeScore=12.70;MQ=97.68;MQ0=0;QD=0.29;RankSumP=0.00000;SB=125.45;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.1658C>G;refseq.codingCoordStr_2=c.1658C>G;refseq.codingCoordStr_3=c.1658C>G;refseq.codingCoordStr_4=c.1415C>G;refseq.codingCoordStr_5=c.1658C>G;refseq.codonCoord_1=553;refseq.codonCoord_2=553;refseq.codonCoord_3=553;refseq.codonCoord_4=472;refseq.codonCoord_5=553;refseq.end_1=65875827;refseq.end_2=65875827;refseq.end_3=65875827;refseq.end_4=65875827;refseq.end_5=65875827;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1981;refseq.mrnaCoord_2=1957;refseq.mrnaCoord_3=1868;refseq.mrnaCoord_4=1871;refseq.mrnaCoord_5=4193;refseq.name2_1=PLEKHG4;refseq.name2_2=PLEKHG4;refseq.name2_3=PLEKHG4;refseq.name2_4=PLEKHG4;refseq.name2_5=PLEKHG4;refseq.name_1=NM_001129727;refseq.name_2=NM_001129728;refseq.name_3=NM_001129729;refseq.name_4=NM_001129731;refseq.name_5=NM_015432;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A553G;refseq.proteinCoordStr_2=p.A553G;refseq.proteinCoordStr_3=p.A553G;refseq.proteinCoordStr_4=p.A472G;refseq.proteinCoordStr_5=p.A553G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.spliceDist_5=-35;refseq.start_1=65875827;refseq.start_2=65875827;refseq.start_3=65875827;refseq.start_4=65875827;refseq.start_5=65875827;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr16 65878421 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.40;MQ0=0;OQ=467.74;QD=13.36;RankSumP=0.547405;SB=-35.63;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_1=c.2943C>T;refseq.codingCoordStr_2=c.2943C>T;refseq.codingCoordStr_3=c.2943C>T;refseq.codingCoordStr_4=c.2700C>T;refseq.codingCoordStr_5=c.2943C>T;refseq.codonCoord_1=981;refseq.codonCoord_2=981;refseq.codonCoord_3=981;refseq.codonCoord_4=900;refseq.codonCoord_5=981;refseq.end_1=65878421;refseq.end_2=65878421;refseq.end_3=65878421;refseq.end_4=65878421;refseq.end_5=65878421;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=3266;refseq.mrnaCoord_2=3242;refseq.mrnaCoord_3=3153;refseq.mrnaCoord_4=3156;refseq.mrnaCoord_5=5478;refseq.name2_1=PLEKHG4;refseq.name2_2=PLEKHG4;refseq.name2_3=PLEKHG4;refseq.name2_4=PLEKHG4;refseq.name2_5=PLEKHG4;refseq.name_1=NM_001129727;refseq.name_2=NM_001129728;refseq.name_3=NM_001129729;refseq.name_4=NM_001129731;refseq.name_5=NM_015432;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L981L;refseq.proteinCoordStr_2=p.L981L;refseq.proteinCoordStr_3=p.L981L;refseq.proteinCoordStr_4=p.L900L;refseq.proteinCoordStr_5=p.L981L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.spliceDist_5=18;refseq.start_1=65878421;refseq.start_2=65878421;refseq.start_3=65878421;refseq.start_4=65878421;refseq.start_5=65878421;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;set=Intersection GT 0/1 chr16 65883071 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2389A>C;refseq.codonCoord=797;refseq.end=65883071;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2440;refseq.name=NM_001100915;refseq.name2=KCTD19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T797P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-22;refseq.start=65883071;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr16 66136156 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2791C>G;refseq.codonCoord=931;refseq.end=66136156;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2878;refseq.name=NM_024519;refseq.name2=FAM65A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L931V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=58;refseq.start=66136156;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr16 66253723 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.710A>C;refseq.codingCoordStr_2=c.713A>C;refseq.codonCoord_1=237;refseq.codonCoord_2=238;refseq.end_1=66253723;refseq.end_2=66253723;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=801;refseq.mrnaCoord_2=804;refseq.name2_1=PARD6A;refseq.name2_2=PARD6A;refseq.name_1=NM_001037281;refseq.name_2=NM_016948;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N237T;refseq.proteinCoordStr_2=p.N238T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=424;refseq.spliceDist_2=427;refseq.start_1=66253723;refseq.start_2=66253723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr16 66415077 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.273C>A;refseq.codonCoord=91;refseq.end=66415077;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_018430;refseq.name2=TSNAXIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y91*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-47;refseq.start=66415077;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr16 66421897 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=8.36;MQ=98.30;MQ0=0;OQ=1143.20;QD=11.79;RankSumP=0.365137;SB=-433.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.759C>T;refseq.codonCoord=253;refseq.end=66421897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1308;refseq.name=NM_025082;refseq.name2=CENPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.N253N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=56;refseq.start=66421897;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr16 66472586 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=1.31769e-08;SecondBestBaseQ=7;refseq.chr=chr16;refseq.codingCoordStr=c.2636+2;refseq.end=66472586;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014329;refseq.name2=EDC4;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=66472586;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr16 66527689 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0836708;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.172C>G;refseq.codonCoord=58;refseq.end=66527689;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_002801;refseq.name2=PSMB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R58G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=28;refseq.start=66527689;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 0/1 chr16 66531474 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=2;RankSumP=0.0254114;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1157G>C;refseq.codonCoord=386;refseq.end=66531474;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_000229;refseq.name2=LCAT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R386P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-187;refseq.start=66531474;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr16 66583302 . G C 121.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=15.26;MQ=98.67;MQ0=0;OQ=17543.81;QD=42.58;RankSumP=1.00000;SB=-7317.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.602C>G;refseq.codonCoord=201;refseq.end=66583302;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_022355;refseq.name2=DPEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P201R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-61;refseq.start=66583302;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr16 66614597 . T C 386.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.71;MQ=98.52;MQ0=0;OQ=3713.86;QD=37.14;RankSumP=1.00000;SB=-1380.85;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=66614597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_018380;refseq.name2=DDX28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=675;refseq.start=66614597;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr16 66647786 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.327T>G;refseq.codonCoord=109;refseq.end=66647786;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_017803;refseq.name2=DUS2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G109G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=19;refseq.start=66647786;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 66827333 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.117T>G;refseq.codonCoord=39;refseq.end=66827333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_024939;refseq.name2=ESRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G39G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-82;refseq.start=66827333;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 66882735 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.917T>G;refseq.codingCoordStr_2=c.917T>G;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.end_1=66882735;refseq.end_2=66882735;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1226;refseq.mrnaCoord_2=1139;refseq.name2_1=SLC7A6;refseq.name2_2=SLC7A6;refseq.name_1=NM_001076785;refseq.name_2=NM_003983;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V306G;refseq.proteinCoordStr_2=p.V306G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=66882735;refseq.start_2=66882735;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 66902197 . C T 215.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.15;MQ0=0;OQ=1832.15;QD=15.53;RankSumP=0.00741409;SB=-453.45;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.134G>A;refseq.codonCoord=45;refseq.end=66902197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_032178;refseq.name2=SLC7A6OS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-59;refseq.start=66902197;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 0/1 chr16 66907439 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=288;Dels=0.00;HRun=2;HaplotypeScore=19.41;MQ=98.27;MQ0=0;OQ=164.86;QD=0.57;RankSumP=0.00000;SB=474.61;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.56A>G;refseq.codonCoord=19;refseq.end=66907439;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_019023;refseq.name2=PRMT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.E19G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-40;refseq.start=66907439;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 66947273 . C T 104.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=12.37;MQ=97.84;MQ0=0;OQ=1862.10;QD=15.39;RankSumP=0.287600;SB=-578.55;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1797C>T;refseq.codonCoord=599;refseq.end=66947273;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2073;refseq.name=NM_019023;refseq.name2=PRMT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T599T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=66947273;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr16 66952662 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=1.06255e-09;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1916A>C;refseq.codonCoord=639;refseq.end=66952662;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2338;refseq.name=NM_018667;refseq.name2=SMPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H639P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=50;refseq.start=66952662;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 66952665 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1913A>C;refseq.codonCoord=638;refseq.end=66952665;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2335;refseq.name=NM_018667;refseq.name2=SMPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D638A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=47;refseq.start=66952665;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 66956425 . C T 222.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.70;MQ0=0;OQ=1162.77;QD=16.85;RankSumP=0.0892583;SB=-464.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1395G>A;refseq.codonCoord=465;refseq.end=66956425;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1817;refseq.name=NM_018667;refseq.name2=SMPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P465P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=66956425;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr16 66963494 . A C 23 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=5.06789e-05;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.92T>G;refseq.codonCoord=31;refseq.end=66963494;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=514;refseq.name=NM_018667;refseq.name2=SMPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=298;refseq.start=66963494;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 67155508 . A G 150.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=1;HaplotypeScore=4.35;MQ=98.92;MQ0=0;OQ=17081.59;QD=41.46;RankSumP=1.00000;SB=-7003.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1317A>G;refseq.codonCoord=439;refseq.end=67155508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1352;refseq.name=NM_133458;refseq.name2=ZFP90;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q439Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1061;refseq.start=67155508;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 67271231 . G A 349.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=98.91;MQ0=0;OQ=6299.83;QD=17.50;RankSumP=0.496932;SB=-2145.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.720G>A;refseq.codonCoord=240;refseq.end=67271231;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1852;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T240T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=29;refseq.start=67271231;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 67271324 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=525;Dels=0.00;HRun=1;HaplotypeScore=13.32;MQ=98.84;MQ0=0;OQ=8126.49;QD=15.48;RankSumP=0.395578;SB=-2879.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.813C>A;refseq.codonCoord=271;refseq.end=67271324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1945;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T271T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=67271324;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 67278971 . T C 302.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=442;Dels=0.00;HRun=0;HaplotypeScore=14.40;MQ=98.38;MQ0=0;OQ=8670.96;QD=19.62;RankSumP=0.00529721;SB=-3018.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1626T>C;refseq.codonCoord=542;refseq.end=67278971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2758;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N542N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=56;refseq.start=67278971;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/0 chr16 67279034 . G C 164.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=98.38;MQ0=0;OQ=6354.77;QD=24.07;RankSumP=0.211593;SB=-1135.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1689G>C;refseq.codonCoord=563;refseq.end=67279034;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2821;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q563H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-107;refseq.start=67279034;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr16 67283284 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=880.56;QD=11.90;RankSumP=0.237825;SB=-224.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1956G>A;refseq.codonCoord=652;refseq.end=67283284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3088;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K652K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-47;refseq.start=67283284;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr16 67287286 . C A 204.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=15.59;MQ=98.54;MQ0=0;OQ=4317.51;QD=16.93;RankSumP=0.0745120;SB=-946.01;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2239C>A;refseq.codonCoord=747;refseq.end=67287286;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3371;refseq.name=NM_001793;refseq.name2=CDH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R747R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-42;refseq.start=67287286;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr16 67414942 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=98.63;MQ0=0;OQ=882.74;QD=10.90;RankSumP=0.387002;SB=-463.64;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2076T>C;refseq.codonCoord=692;refseq.end=67414942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_004360;refseq.name2=CDH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A692A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-89;refseq.start=67414942;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 67701078 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.61;MQ0=0;OQ=1069.51;QD=10.28;RankSumP=0.203642;SB=-514.85;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.279A>G;refseq.codingCoordStr_2=c.279A>G;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=67701078;refseq.end_2=67701078;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=435;refseq.mrnaCoord_2=339;refseq.name2_1=HAS3;refseq.name2_2=HAS3;refseq.name_1=NM_005329;refseq.name_2=NM_138612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A93A;refseq.proteinCoordStr_2=p.A93A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=279;refseq.spliceDist_2=279;refseq.start_1=67701078;refseq.start_2=67701078;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr16 67734769 . C T 318.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=98.95;MQ0=0;OQ=5097.13;QD=18.20;RankSumP=0.428049;SB=-928.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.714C>T;refseq.codonCoord=238;refseq.end=67734769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=810;refseq.name=NM_032830;refseq.name2=CIRH1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D238D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-25;refseq.start=67734769;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 67861549 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=886;Dels=0.00;HRun=0;HaplotypeScore=12.74;MQ=98.77;MQ0=0;OQ=15322.30;QD=17.29;RankSumP=0.166796;SB=-4960.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1008A>G;refseq.codonCoord=336;refseq.end=67861549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1028;refseq.name=NM_006750;refseq.name2=SNTB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A336A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=67861549;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr16 67930915 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=5.71;MQ=97.29;MQ0=0;OQ=817.44;QD=9.29;RankSumP=0.202303;SB=-83.79;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.42A>G;refseq.codonCoord=14;refseq.end=67930915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_032382;refseq.name2=COG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T14T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=113;refseq.start=67930915;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr16 67934971 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=519;Dels=0.00;HRun=0;HaplotypeScore=24.59;MQ=98.63;MQ0=0;OQ=9858.14;QD=18.99;RankSumP=0.204811;SB=-3679.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.563T>C;refseq.codonCoord=188;refseq.end=67934971;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_144676;refseq.name2=TMED6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M188T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=74;refseq.start=67934971;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr16 67935000 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=548;Dels=0.00;HRun=1;HaplotypeScore=14.31;MQ=98.62;MQ0=0;OQ=10773.83;QD=19.66;RankSumP=0.204923;SB=-4189.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.534A>G;refseq.codonCoord=178;refseq.end=67935000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_144676;refseq.name2=TMED6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R178R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=45;refseq.start=67935000;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr16 67939270 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=803;Dels=0.00;HRun=0;HaplotypeScore=18.72;MQ=98.92;MQ0=0;OQ=18030.01;QD=22.45;RankSumP=0.208325;SB=-6796.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.411G>A;refseq.codonCoord=137;refseq.end=67939270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_144676;refseq.name2=TMED6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G137G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=71;refseq.start=67939270;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr16 67941054 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.215T>G;refseq.codonCoord=72;refseq.end=67941054;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_144676;refseq.name2=TMED6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V72G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=67941054;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr16 67943063 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.95A>C;refseq.codonCoord=32;refseq.end=67943063;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_144676;refseq.name2=TMED6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D32A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-119;refseq.start=67943063;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr16 68309874 . C T 189.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=7.09;MQ=98.80;MQ0=0;OQ=3072.67;QD=14.36;RankSumP=0.167844;SB=-1543.87;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.72G>A;refseq.codingCoordStr_2=c.72G>A;refseq.codingCoordStr_3=c.72G>A;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.codonCoord_3=24;refseq.end_1=68309874;refseq.end_2=68309874;refseq.end_3=68309874;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=263;refseq.mrnaCoord_3=263;refseq.name2_1=NQO1;refseq.name2_2=NQO1;refseq.name2_3=NQO1;refseq.name_1=NM_000903;refseq.name_2=NM_001025433;refseq.name_3=NM_001025434;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E24E;refseq.proteinCoordStr_2=p.E24E;refseq.proteinCoordStr_3=p.E24E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.start_1=68309874;refseq.start_2=68309874;refseq.start_3=68309874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 0/1 chr16 68340356 . C T 174.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=87.11;MQ0=4;OQ=1180.49;QD=15.53;RankSumP=0.429152;SB=-387.53;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.692G>A;refseq.codonCoord=231;refseq.end=68340356;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_014062;refseq.name2=NOB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R231Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-35;refseq.start=68340356;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr16 68340376 . A G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.473124;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.672T>C;refseq.codonCoord=224;refseq.end=68340376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_014062;refseq.name2=NOB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C224C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-55;refseq.start=68340376;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr16 68343745 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.227A>C;refseq.codonCoord=76;refseq.end=68343745;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_014062;refseq.name2=NOB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y76S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=31;refseq.start=68343745;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr16 68479460 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.721A>C;refseq.codingCoordStr_2=c.721A>C;refseq.codonCoord_1=241;refseq.codonCoord_2=241;refseq.end_1=68479460;refseq.end_2=68479460;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=810;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T241P;refseq.proteinCoordStr_2=p.T241P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=68479460;refseq.start_2=68479460;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr16 68520856 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=2;HaplotypeScore=1.37;MQ=98.92;MQ0=0;OQ=2911.49;QD=14.63;RankSumP=0.175586;SB=-816.16;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1239G>A;refseq.codingCoordStr_2=c.-79G>A;refseq.codonCoord_1=413;refseq.end_1=68520856;refseq.end_2=68520856;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1328;refseq.mrnaCoord_2=492;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.K413K;refseq.referenceAA_1=Lys;refseq.referenceCodon_1=AAG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=68520856;refseq.start_2=68520856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantCodon_1=AAA;set=Intersection GT 1/0 chr16 68522917 . A C 38 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=5.38468e-06;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1526A>C;refseq.codingCoordStr_2=c.209A>C;refseq.codonCoord_1=509;refseq.codonCoord_2=70;refseq.end_1=68522917;refseq.end_2=68522917;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1615;refseq.mrnaCoord_2=779;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N509T;refseq.proteinCoordStr_2=p.N70T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=68522917;refseq.start_2=68522917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=FilteredInAll GT 0/1 chr16 68525398 . T C 239.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=439;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.69;MQ0=0;OQ=8088.87;QD=18.43;RankSumP=0.364547;SB=-3031.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1707T>C;refseq.codingCoordStr_2=c.390T>C;refseq.codonCoord_1=569;refseq.codonCoord_2=130;refseq.end_1=68525398;refseq.end_2=68525398;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1796;refseq.mrnaCoord_2=960;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H569H;refseq.proteinCoordStr_2=p.H130H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=68525398;refseq.start_2=68525398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr16 68527830 . A G 347.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=3.08;MQ=98.82;MQ0=0;OQ=7141.02;QD=38.60;RankSumP=1.00000;SB=-2378.42;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2091A>G;refseq.codingCoordStr_2=c.774A>G;refseq.codonCoord_1=697;refseq.codonCoord_2=258;refseq.end_1=68527830;refseq.end_2=68527830;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2180;refseq.mrnaCoord_2=1344;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T697T;refseq.proteinCoordStr_2=p.T258T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=68527830;refseq.start_2=68527830;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr16 68531326 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=9.99;MQ=98.50;MQ0=0;OQ=2063.19;QD=17.19;RankSumP=0.0655940;SB=-634.00;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2595G>A;refseq.codingCoordStr_2=c.1278G>A;refseq.codonCoord_1=865;refseq.codonCoord_2=426;refseq.end_1=68531326;refseq.end_2=68531326;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2684;refseq.mrnaCoord_2=1848;refseq.name2_1=WWP2;refseq.name2_2=WWP2;refseq.name_1=NM_007014;refseq.name_2=NM_199424;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E865E;refseq.proteinCoordStr_2=p.E426E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.start_1=68531326;refseq.start_2=68531326;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr16 68542884 . G A 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=429;Dels=0.00;HRun=1;HaplotypeScore=23.77;MQ=12.75;MQ0=294;OQ=759.21;QD=1.77;RankSumP=1.00000;SB=-224.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.114G>A;refseq.codingCoordStr_2=c.114G>A;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.end_1=68542884;refseq.end_2=68542884;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=234;refseq.mrnaCoord_2=353;refseq.name2_1=CLEC18A;refseq.name2_2=CLEC18A;refseq.name_1=NM_001136214;refseq.name_2=NM_182619;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P38P;refseq.proteinCoordStr_2=p.P38P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=68542884;refseq.start_2=68542884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=filterInsoap-gatk GT 1/1 chr16 68545820 rs3869427 T C 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=2;HaplotypeScore=2.42;MQ=26.03;MQ0=23;OQ=520.45;QD=4.41;SB=-199.06;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.299T>C;refseq.codingCoordStr_2=c.299T>C;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=68545820;refseq.end_2=68545820;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=419;refseq.mrnaCoord_2=538;refseq.name2_1=CLEC18A;refseq.name2_2=CLEC18A;refseq.name_1=NM_001136214;refseq.name_2=NM_182619;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L100P;refseq.proteinCoordStr_2=p.L100P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=68545820;refseq.start_2=68545820;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:82,36:70:-76.41,-21.09,-208.88:99 chr16 68545874 . T C 283.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=22.50;MQ0=40;OQ=1524.89;QD=15.10;RankSumP=1.00000;SB=-727.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.353T>C;refseq.codingCoordStr_2=c.353T>C;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.end_1=68545874;refseq.end_2=68545874;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=473;refseq.mrnaCoord_2=592;refseq.name2_1=CLEC18A;refseq.name2_2=CLEC18A;refseq.name_1=NM_001136214;refseq.name_2=NM_182619;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V118A;refseq.proteinCoordStr_2=p.V118A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.start_1=68545874;refseq.start_2=68545874;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=filterInsoap-gatk GT 1/1 chr16 68545973 . C T 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=8.69;MQ=19.43;MQ0=52;OQ=749.92;QD=7.42;RankSumP=1.00000;SB=-301.29;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.452C>T;refseq.codingCoordStr_2=c.452C>T;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=68545973;refseq.end_2=68545973;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=572;refseq.mrnaCoord_2=691;refseq.name2_1=CLEC18A;refseq.name2_2=CLEC18A;refseq.name_1=NM_001136214;refseq.name_2=NM_182619;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T151M;refseq.proteinCoordStr_2=p.T151M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=68545973;refseq.start_2=68545973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=filterInsoap-gatk GT 1/1 chr16 68550442 rs62053355 A G 43.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=290;Dels=0.00;HRun=2;HaplotypeScore=7.18;MQ=2.49;MQ0=286;QD=0.15;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.553A>G;refseq.codingCoordStr_2=c.553A>G;refseq.codonCoord_1=185;refseq.codonCoord_2=185;refseq.end_1=68550442;refseq.end_2=68550442;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=792;refseq.name2_1=CLEC18A;refseq.name2_2=CLEC18A;refseq.name_1=NM_001136214;refseq.name_2=NM_182619;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R185G;refseq.proteinCoordStr_2=p.R185G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=68550442;refseq.start_2=68550442;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:167,123:2:-7.74,-0.60,-0.00:6.02 chr16 68768700 . T C 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.272T>C;refseq.codonCoord=91;refseq.end=68768700;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I91T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=56;refseq.start=68768700;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/1 chr16 68768727 . T C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=179;Dels=0.00;HRun=2;HaplotypeScore=7.16;MQ=5.52;MQ0=167;OQ=162.04;QD=0.91;RankSumP=1.00000;SB=-93.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.299T>C;refseq.codonCoord=100;refseq.end=68768727;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L100P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=83;refseq.start=68768727;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr16 68768791 . T C 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=8.02;MQ=20.47;MQ0=112;OQ=1456.99;QD=5.44;RankSumP=1.00000;SB=-420.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.363T>C;refseq.codonCoord=121;refseq.end=68768791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V121V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-94;refseq.start=68768791;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/1 chr16 68768881 rs3869429 G A 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=17.59;MQ0=98;OQ=65.76;QD=0.59;SB=-0.98;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=68768881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=68768881;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=gatk GT:AD:DP:GL:GQ 0/1:100,12:7:-11.97,-2.11,-14.26:98.60 chr16 68773318 rs62053354 C T 0.29 PASS AC=1;AF=0.50;AN=2;DB;DP=535;Dels=0.00;HRun=0;HaplotypeScore=19.81;MQ=2.91;MQ0=529;OQ=86.12;QD=0.16;SB=-10.00;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.521C>T;refseq.codonCoord=174;refseq.end=68773318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A174V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-34;refseq.start=68773318;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:340,185:5:-13.40,-1.51,-7.59:60.87 chr16 68773350 rs62053355 A G 0.04 PASS AC=2;AF=1.00;AN=2;DB;DP=360;Dels=0.00;HRun=2;HaplotypeScore=3.10;MQ=3.54;MQ0=354;OQ=149.83;QD=0.42;SB=-10.00;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.553A>G;refseq.codonCoord=185;refseq.end=68773350;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=807;refseq.name=NM_173619;refseq.name2=CLEC18C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R185G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=68773350;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=gatk GT:AD:DP:GL:GQ 1/1:200,159:5:-18.54,-1.51,-0.00:15.05 chr16 68844678 . A G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=4;HaplotypeScore=3.57;MQ=98.84;MQ0=0;OQ=6881.91;QD=40.01;RankSumP=1.00000;SB=-1769.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2715T>C;refseq.codonCoord=905;refseq.end=68844678;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2825;refseq.name=NM_001605;refseq.name2=AARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V905V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=68844678;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr16 68861081 . G A 262.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.66;MQ0=0;OQ=2414.40;QD=15.78;RankSumP=0.222720;SB=-747.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.903C>T;refseq.codonCoord=301;refseq.end=68861081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_001605;refseq.name2=AARS;refseq.positionType=CDS;refseq.proteinCoordStr=p.H301H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-60;refseq.start=68861081;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr16 68952888 . C T 252.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.73;MQ0=0;OQ=4173.67;QD=16.05;RankSumP=0.495168;SB=-951.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.360C>T;refseq.codonCoord=120;refseq.end=68952888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_018332;refseq.name2=DDX19A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N120N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-27;refseq.start=68952888;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr16 68989665 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0606546;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.270C>T;refseq.codonCoord=90;refseq.end=68989665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1413;refseq.name=NM_006927;refseq.name2=ST3GAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D90D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-70;refseq.start=68989665;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr16 69054637 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.43A>C;refseq.codonCoord=15;refseq.end=69054637;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=101;refseq.name=NM_145059;refseq.name2=FUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T15P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-40;refseq.start=69054637;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 69064408 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=52;Dels=0.00;HRun=3;HaplotypeScore=3.41;MQ=97.75;MQ0=0;OQ=868.49;QD=16.70;RankSumP=0.0430536;SB=-388.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1428T>C;refseq.codonCoord=476;refseq.end=69064408;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1486;refseq.name=NM_145059;refseq.name2=FUK;refseq.positionType=CDS;refseq.proteinCoordStr=p.P476P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=22;refseq.start=69064408;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr16 69072856 . C T 115.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=98.58;MQ0=0;OQ=1912.29;QD=14.94;RankSumP=0.156480;SB=-446.97;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2142G>A;refseq.codonCoord=714;refseq.end=69072856;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2153;refseq.name=NM_015386;refseq.name2=COG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S714S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=36;refseq.start=69072856;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr16 69100768 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.869A>C;refseq.codonCoord=290;refseq.end=69100768;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_015386;refseq.name2=COG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H290P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=25;refseq.start=69100768;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 69103735 . G A 203.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=6.77;MQ=98.97;MQ0=0;OQ=5128.92;QD=22.50;RankSumP=0.389068;SB=-1928.94;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.646C>T;refseq.codonCoord=216;refseq.end=69103735;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_015386;refseq.name2=COG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-93;refseq.start=69103735;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 69105798 . G A 343.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=98.89;MQ0=0;OQ=6793.09;QD=40.44;RankSumP=1.00000;SB=-3298.30;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.485C>T;refseq.codonCoord=162;refseq.end=69105798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=496;refseq.name=NM_015386;refseq.name2=COG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T162I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-60;refseq.start=69105798;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr16 69120542 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=2.76952e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.336C>G;refseq.codonCoord=112;refseq.end=69120542;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_012426;refseq.name2=SF3B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C112W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-62;refseq.start=69120542;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr16 69120588 . C G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=218;Dels=0.00;HRun=3;HaplotypeScore=38.41;MQ=95.94;MQ0=0;OQ=130.75;QD=0.60;RankSumP=4.86001e-06;SB=95.35;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.382C>G;refseq.codonCoord=128;refseq.end=69120588;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_012426;refseq.name2=SF3B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-16;refseq.start=69120588;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr16 69126716 . A T 112.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=99.00;MQ0=0;OQ=1592.23;QD=15.46;RankSumP=0.349289;SB=-469.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.717A>T;refseq.codonCoord=239;refseq.end=69126716;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=928;refseq.name=NM_012426;refseq.name2=SF3B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P239P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=69126716;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr16 69159722 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=97.94;MQ0=0;OQ=993.87;QD=18.07;RankSumP=0.406698;SB=-431.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2988C>T;refseq.codonCoord=996;refseq.end=69159722;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3199;refseq.name=NM_012426;refseq.name2=SF3B3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I996I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=36;refseq.start=69159722;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr16 69238351 . C G 141.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.76;MQ0=0;OQ=332.49;QD=20.78;RankSumP=0.664835;SB=-185.82;SecondBestBaseQ=33;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.-1C>G;refseq.codingCoordStr_2=c.-1C>G;refseq.codingCoordStr_3=c.-1C>G;refseq.end_1=69238351;refseq.end_2=69238351;refseq.end_3=69238351;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=538;refseq.mrnaCoord_3=555;refseq.name2_1=IL34;refseq.name2_2=IL34;refseq.name2_3=IL34;refseq.name_1=NM_001172771;refseq.name_2=NM_001172772;refseq.name_3=NM_152456;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=69238351;refseq.start_2=69238351;refseq.start_3=69238351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/0 chr16 69248490 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=991.87;QD=30.06;RankSumP=0.650806;SB=-313.20;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.364G>C;refseq.codingCoordStr_2=c.367G>C;refseq.codingCoordStr_3=c.367G>C;refseq.codonCoord_1=122;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.end_1=69248490;refseq.end_2=69248490;refseq.end_3=69248490;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=905;refseq.mrnaCoord_3=922;refseq.name2_1=IL34;refseq.name2_2=IL34;refseq.name2_3=IL34;refseq.name_1=NM_001172771;refseq.name_2=NM_001172772;refseq.name_3=NM_152456;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E122Q;refseq.proteinCoordStr_2=p.E123Q;refseq.proteinCoordStr_3=p.E123Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=69248490;refseq.start_2=69248490;refseq.start_3=69248490;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 0/1 chr16 69255595 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.68;MQ0=0;OQ=795.83;QD=16.58;RankSumP=0.599920;SB=-262.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1730C>T;refseq.codonCoord=577;refseq.end=69255595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_138383;refseq.name2=MTSS1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A577V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=259;refseq.start=69255595;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr16 69256908 . T G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.511995;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1090A>C;refseq.codonCoord=364;refseq.end=69256908;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_138383;refseq.name2=MTSS1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T364P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=37;refseq.start=69256908;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 69284296 . C A 188.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.76;MQ0=0;OQ=1956.13;QD=18.81;RankSumP=0.481125;SB=-719.73;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2115G>T;refseq.codonCoord=705;refseq.end=69284296;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2373;refseq.name=NM_018052;refseq.name2=VAC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P705P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-72;refseq.start=69284296;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr16 69372236 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=8.17271e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1054A>C;refseq.codonCoord=352;refseq.end=69372236;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1312;refseq.name=NM_018052;refseq.name2=VAC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.T352P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-43;refseq.start=69372236;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 69409784 . C T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.47;MQ0=0;OQ=1018.77;QD=5.51;SB=-397.74;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.14617G>A;refseq.codonCoord=4873;refseq.end=69409784;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14745;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4873T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-39;refseq.start=69409784;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:144,40:172:-156.97,-51.81,-502.26:99 chr16 69409798 . C T 330.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=98.44;MQ0=0;OQ=4038.60;QD=19.60;RankSumP=0.225800;SB=-1346.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.14603G>A;refseq.codonCoord=4868;refseq.end=69409798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14731;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4868Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-53;refseq.start=69409798;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr16 69409806 . C T 246.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.49;MQ0=0;OQ=3944.80;QD=19.43;RankSumP=0.308425;SB=-1286.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.14595G>A;refseq.codonCoord=4865;refseq.end=69409806;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14723;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4865T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-61;refseq.start=69409806;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 69421221 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=11.72;MQ=98.92;MQ0=0;OQ=1898.72;QD=5.42;RankSumP=0.281493;SB=-608.60;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13910C>T;refseq.codonCoord=4637;refseq.end=69421221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=14038;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4637M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=14;refseq.start=69421221;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr16 69421222 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.257923;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13909A>G;refseq.codonCoord=4637;refseq.end=69421222;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=14037;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4637A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=13;refseq.start=69421222;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr16 69424261 . C T 226.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=14.68;MQ=98.91;MQ0=0;OQ=5745.62;QD=15.53;RankSumP=0.00415249;SB=-1408.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.13887G>A;refseq.codonCoord=4629;refseq.end=69424261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=14015;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4629A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=69424261;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 0/1 chr16 69424333 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=435;Dels=0.00;HRun=5;HaplotypeScore=9.08;MQ=98.94;MQ0=0;OQ=6323.08;QD=14.54;RankSumP=0.435081;SB=-2170.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13815C>A;refseq.codonCoord=4605;refseq.end=69424333;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13943;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N4605K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-82;refseq.start=69424333;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr16 69425316 . T A 170.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=268;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=97.67;MQ0=0;OQ=4849.96;QD=18.10;RankSumP=0.0551974;SB=-1467.56;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13651A>T;refseq.codonCoord=4551;refseq.end=69425316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13779;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.M4551L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-26;refseq.start=69425316;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr16 69425332 . T C 238.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=97.71;MQ0=0;OQ=4707.94;QD=16.94;RankSumP=0.417942;SB=-1498.77;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.13635A>G;refseq.codonCoord=4545;refseq.end=69425332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13763;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4545T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-42;refseq.start=69425332;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr16 69425563 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=778;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.82;MQ0=0;OQ=12994.48;QD=16.70;RankSumP=0.0570648;SB=-4657.36;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.13404T>C;refseq.codonCoord=4468;refseq.end=69425563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=13532;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4468L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=69425563;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr16 69429102 . T C 156.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=631;Dels=0.00;HRun=0;HaplotypeScore=6.92;MQ=98.74;MQ0=0;OQ=12354.09;QD=19.58;RankSumP=0.00548548;SB=-3711.16;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13231A>G;refseq.codonCoord=4411;refseq.end=69429102;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13359;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4411E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=69429102;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/0 chr16 69429248 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=469;Dels=0.00;HRun=0;HaplotypeScore=19.24;MQ=98.83;MQ0=0;OQ=10394.01;QD=22.16;RankSumP=0.341165;SB=-3736.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.13085C>G;refseq.codonCoord=4362;refseq.end=69429248;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13213;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4362C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=45;refseq.start=69429248;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr16 69442025 . C G 354.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=8.23;MQ=98.87;MQ0=0;OQ=7417.86;QD=19.99;RankSumP=0.463673;SB=-2677.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.12475G>C;refseq.codonCoord=4159;refseq.end=69442025;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12603;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E4159Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=35;refseq.start=69442025;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 69442035 . T A 176.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=12.66;MQ=98.89;MQ0=0;OQ=5356.91;QD=15.90;RankSumP=0.133551;SB=-1502.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.12465A>T;refseq.codonCoord=4155;refseq.end=69442035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12593;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4155T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=25;refseq.start=69442035;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 69446648 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=988;Dels=0.00;HRun=0;HaplotypeScore=15.40;MQ=98.81;MQ0=0;OQ=20409.70;QD=20.66;RankSumP=0.156070;SB=-8683.64;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.12324T>C;refseq.codonCoord=4108;refseq.end=69446648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12452;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I4108I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=32;refseq.start=69446648;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr16 69451477 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1410;Dels=0.00;HRun=3;HaplotypeScore=34.28;MQ=98.88;MQ0=0;OQ=12668.67;QD=8.98;RankSumP=0.124615;SB=-3946.38;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.12121G>A;refseq.codonCoord=4041;refseq.end=69451477;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12249;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4041T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=69451477;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap-filterIngatk GT 0/1 chr16 69451588 . T C 246.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=0;HaplotypeScore=10.80;MQ=98.80;MQ0=0;OQ=7890.09;QD=17.93;RankSumP=0.344954;SB=-1840.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.12010A>G;refseq.codonCoord=4004;refseq.end=69451588;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=12138;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4004A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=23;refseq.start=69451588;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr16 69453619 . A G 238.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=8.23;MQ=98.12;MQ0=0;OQ=4670.14;QD=16.80;RankSumP=0.211691;SB=-1829.83;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.11607T>C;refseq.codonCoord=3869;refseq.end=69453619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11735;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3869H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=41;refseq.start=69453619;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr16 69453623 . A C 153.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=7.23;MQ=98.19;MQ0=0;OQ=4599.11;QD=16.60;RankSumP=0.0600747;SB=-1683.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.11603T>G;refseq.codonCoord=3868;refseq.end=69453623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11731;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.M3868R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=37;refseq.start=69453623;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr16 69454540 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=0;HaplotypeScore=5.66;MQ=98.46;MQ0=0;OQ=10249.63;QD=22.48;RankSumP=0.207452;SB=-4417.38;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.11515G>C;refseq.codonCoord=3839;refseq.end=69454540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11643;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3839L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=47;refseq.start=69454540;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr16 69460060 . C T 161.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.93;MQ0=0;OQ=7925.53;QD=18.09;RankSumP=0.0446216;SB=-3015.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.11221G>A;refseq.codonCoord=3741;refseq.end=69460060;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11349;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3741I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-87;refseq.start=69460060;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr16 69460069 . C T 209.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=432;Dels=0.00;HRun=0;HaplotypeScore=11.81;MQ=98.93;MQ0=0;OQ=7618.66;QD=17.64;RankSumP=0.373000;SB=-2937.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.11212G>A;refseq.codonCoord=3738;refseq.end=69460069;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=11340;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3738T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-96;refseq.start=69460069;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 69460184 . G A 208.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=99.00;MQ0=0;OQ=4214.02;QD=18.09;RankSumP=0.0576742;SB=-893.50;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.11097C>T;refseq.codonCoord=3699;refseq.end=69460184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11225;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3699H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=69460184;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr16 69466237 . A G 159.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=15.40;MQ=98.49;MQ0=0;OQ=6784.51;QD=20.25;RankSumP=0.0958847;SB=-1565.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.10641T>C;refseq.codonCoord=3547;refseq.end=69466237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10769;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3547N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-17;refseq.start=69466237;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr16 69470887 . G A 132.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=568;Dels=0.00;HRun=0;HaplotypeScore=15.93;MQ=98.85;MQ0=0;OQ=8877.48;QD=15.63;RankSumP=0.357481;SB=-2445.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.10368C>T;refseq.codonCoord=3456;refseq.end=69470887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=10496;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3456T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=69470887;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 69475356 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=598;Dels=0.00;HRun=1;HaplotypeScore=7.18;MQ=98.83;MQ0=0;OQ=11421.34;QD=19.10;RankSumP=0.166215;SB=-4331.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.9944T>C;refseq.codonCoord=3315;refseq.end=69475356;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10072;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L3315P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-33;refseq.start=69475356;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr16 69475371 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.9929A>C;refseq.codonCoord=3310;refseq.end=69475371;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10057;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H3310P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-48;refseq.start=69475371;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 69475432 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=363;Dels=0.00;HRun=2;HaplotypeScore=9.46;MQ=98.57;MQ0=0;OQ=7314.29;QD=20.15;RankSumP=0.448597;SB=-2070.35;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.9868G>C;refseq.codonCoord=3290;refseq.end=69475432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9996;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3290P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=97;refseq.start=69475432;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr16 69500189 . A C 202.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=590;Dels=0.00;HRun=0;HaplotypeScore=14.01;MQ=98.77;MQ0=0;OQ=12050.74;QD=20.42;RankSumP=0.389322;SB=-3110.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.8078T>G;refseq.codonCoord=2693;refseq.end=69500189;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8206;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2693S;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=77;refseq.start=69500189;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr16 69512014 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=11.73;MQ=98.65;MQ0=0;OQ=2228.13;QD=15.37;RankSumP=0.0848344;SB=-917.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7763A>G;refseq.codonCoord=2588;refseq.end=69512014;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7891;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2588R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-20;refseq.start=69512014;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr16 69512072 . C T 81.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.24;MQ0=0;OQ=2267.21;QD=17.05;RankSumP=0.482333;SB=-789.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7705G>A;refseq.codonCoord=2569;refseq.end=69512072;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7833;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2569N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-78;refseq.start=69512072;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr16 69512073 . T A 70.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.23;MQ0=0;OQ=2107.73;QD=16.09;RankSumP=0.470962;SB=-704.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.7704A>T;refseq.codonCoord=2568;refseq.end=69512073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7832;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2568L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-79;refseq.start=69512073;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr16 69512107 rs8044142 C T 164.51 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.71;MQ0=0;OQ=852.76;QD=14.21;SB=-324.31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7670G>A;refseq.codonCoord=2557;refseq.end=69512107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7798;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2557E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-113;refseq.start=69512107;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=gatk GT:AD:DP:GL:GQ 0/1:34,26:56:-105.42,-16.86,-132.61:99 chr16 69512219 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7558A>C;refseq.codonCoord=2520;refseq.end=69512219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7686;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2520P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-225;refseq.start=69512219;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr16 69512275 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.90;MQ0=0;OQ=884.97;QD=15.26;RankSumP=0.350096;SB=-6.99;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7502T>C;refseq.codonCoord=2501;refseq.end=69512275;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7630;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2501S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-281;refseq.start=69512275;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr16 69512310 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=8.56;MQ=98.77;MQ0=0;OQ=1697.45;QD=13.06;RankSumP=0.00280305;SB=-195.55;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.7467G>T;refseq.codonCoord=2489;refseq.end=69512310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7595;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2489A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=312;refseq.start=69512310;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/0 chr16 69512416 . G T 264.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=711;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=98.89;MQ0=0;OQ=28576.16;QD=40.19;RankSumP=1.00000;SB=-5311.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7361C>A;refseq.codonCoord=2454;refseq.end=69512416;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7489;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2454Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=206;refseq.start=69512416;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 69512446 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1281;Dels=0.00;HRun=0;HaplotypeScore=58.66;MQ=98.82;MQ0=0;OQ=24105.66;QD=18.82;RankSumP=0.0909361;SB=-5430.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.7331A>T;refseq.codonCoord=2444;refseq.end=69512446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7459;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2444I;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=176;refseq.start=69512446;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr16 69530096 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=98.92;MQ0=0;OQ=1193.10;QD=6.21;RankSumP=0.0555371;SB=-294.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6914A>G;refseq.codonCoord=2305;refseq.end=69530096;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7042;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2305G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=64;refseq.start=69530096;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr16 69530121 . G C 158.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=5.92;MQ=98.78;MQ0=0;OQ=5904.61;QD=21.09;RankSumP=0.373924;SB=-2073.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6889C>G;refseq.codonCoord=2297;refseq.end=69530121;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7017;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2297G;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=39;refseq.start=69530121;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr16 69533168 . T C 109.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=251;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.91;MQ0=0;OQ=4212.36;QD=16.78;RankSumP=0.0940651;SB=-794.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6722A>G;refseq.codonCoord=2241;refseq.end=69533168;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6850;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2241R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=56;refseq.start=69533168;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr16 69535310 . A T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.12;MQ0=0;OQ=67.82;QD=0.56;SB=-40.67;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6572T>A;refseq.codonCoord=2191;refseq.end=69535310;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6700;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2191H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=44;refseq.start=69535310;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:92,29:101:-40.48,-30.41,-355.56:99 chr16 69543981 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=2;HaplotypeScore=9.62;MQ=98.91;MQ0=0;OQ=7226.19;QD=21.57;RankSumP=0.299562;SB=-1924.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.6372C>T;refseq.codonCoord=2124;refseq.end=69543981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6500;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2124T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=59;refseq.start=69543981;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr16 69546800 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=580;Dels=0.00;HRun=0;HaplotypeScore=26.44;MQ=98.74;MQ0=0;OQ=10221.40;QD=17.62;RankSumP=0.0161318;SB=-2937.54;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6292G>A;refseq.codonCoord=2098;refseq.end=69546800;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6420;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2098M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-22;refseq.start=69546800;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr16 69546836 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=679;Dels=0.00;HRun=0;HaplotypeScore=33.64;MQ=98.77;MQ0=0;OQ=11117.28;QD=16.37;RankSumP=0.428043;SB=-4445.03;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6256C>T;refseq.codonCoord=2086;refseq.end=69546836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6384;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2086C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-58;refseq.start=69546836;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr16 69551067 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=502;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=98.74;MQ0=0;OQ=13329.96;QD=26.55;RankSumP=0.132373;SB=-5865.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.6123T>C;refseq.codonCoord=2041;refseq.end=69551067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6251;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2041H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-17;refseq.start=69551067;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr16 69565670 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.42;MQ0=0;OQ=1076.93;QD=12.52;RankSumP=0.243683;SB=-500.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4941A>G;refseq.codonCoord=1647;refseq.end=69565670;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5069;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1647L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=35;refseq.start=69565670;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 69570356 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=753;Dels=0.00;HRun=0;HaplotypeScore=39.11;MQ=98.74;MQ0=0;OQ=12824.56;QD=17.03;RankSumP=0.0126138;SB=-4781.54;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4597A>G;refseq.codonCoord=1533;refseq.end=69570356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4725;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1533V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-39;refseq.start=69570356;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr16 69572830 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.89;MQ0=0;OQ=460.96;QD=5.49;RankSumP=0.332502;SB=-134.97;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.4472C>A;refseq.codonCoord=1491;refseq.end=69572830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4600;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1491H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-36;refseq.start=69572830;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr16 69582746 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=634;Dels=0.00;HRun=3;HaplotypeScore=23.33;MQ=98.88;MQ0=0;OQ=11192.28;QD=17.65;RankSumP=0.0449686;SB=-4334.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3840G>A;refseq.codonCoord=1280;refseq.end=69582746;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3968;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1280T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-50;refseq.start=69582746;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 69583577 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=644;Dels=0.00;HRun=0;HaplotypeScore=16.80;MQ=98.62;MQ0=0;OQ=14420.56;QD=22.39;RankSumP=0.266018;SB=-6240.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3682G>C;refseq.codonCoord=1228;refseq.end=69583577;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3810;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1228L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=69583577;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 69583599 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=628;Dels=0.00;HRun=2;HaplotypeScore=22.39;MQ=98.63;MQ0=0;OQ=12244.92;QD=19.50;RankSumP=0.472091;SB=-4434.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3660G>A;refseq.codonCoord=1220;refseq.end=69583599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3788;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1220P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=16;refseq.start=69583599;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr16 69611679 . T C 174.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=15.18;MQ=98.78;MQ0=0;OQ=9507.61;QD=19.60;RankSumP=0.402367;SB=-3389.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3229A>G;refseq.codonCoord=1077;refseq.end=69611679;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3357;refseq.name=NM_032821;refseq.name2=HYDIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1077V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=43;refseq.start=69611679;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr16 69618996 . A G 354.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=98.85;MQ0=0;OQ=6587.32;QD=20.46;RankSumP=0.125809;SB=-1768.83;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3052T>C;refseq.codingCoordStr_2=c.3042+10;refseq.codonCoord_1=1018;refseq.end_1=69618996;refseq.end_2=69618996;refseq.frame_1=0;refseq.functionalClass_1=readthrough;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3175;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.proteinCoordStr_1=p.*1018Q;refseq.referenceAA_1=Stop;refseq.referenceCodon_1=TAG;refseq.spliceDist_1=284;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-donor_10;refseq.start_1=69618996;refseq.start_2=69618996;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantCodon_1=CAG;set=Intersection GT 0/1 chr16 69651935 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1358;Dels=0.00;HRun=2;HaplotypeScore=21.13;MQ=98.81;MQ0=0;OQ=13809.17;QD=10.17;RankSumP=0.0414763;SB=-4236.93;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2502C>T;refseq.codingCoordStr_2=c.2502C>T;refseq.codonCoord_1=834;refseq.codonCoord_2=834;refseq.end_1=69651935;refseq.end_2=69651935;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2625;refseq.mrnaCoord_2=2630;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F834F;refseq.proteinCoordStr_2=p.F834F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=69651935;refseq.start_2=69651935;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr16 69656150 . T C 161.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=17.19;MQ=98.67;MQ0=0;OQ=5882.82;QD=17.72;RankSumP=0.261648;SB=-2245.42;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2170A>G;refseq.codingCoordStr_2=c.2170A>G;refseq.codonCoord_1=724;refseq.codonCoord_2=724;refseq.end_1=69656150;refseq.end_2=69656150;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2293;refseq.mrnaCoord_2=2298;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N724D;refseq.proteinCoordStr_2=p.N724D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=69656150;refseq.start_2=69656150;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr16 69658701 . T C 188.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=347;Dels=0.00;HRun=0;HaplotypeScore=12.72;MQ=98.70;MQ0=0;OQ=6000.86;QD=17.29;RankSumP=0.152970;SB=-1215.09;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2068A>G;refseq.codingCoordStr_2=c.2068A>G;refseq.codonCoord_1=690;refseq.codonCoord_2=690;refseq.end_1=69658701;refseq.end_2=69658701;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2191;refseq.mrnaCoord_2=2196;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T690A;refseq.proteinCoordStr_2=p.T690A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=69658701;refseq.start_2=69658701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr16 69658771 . C T 175.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=606;Dels=0.00;HRun=0;HaplotypeScore=13.60;MQ=98.75;MQ0=0;OQ=10877.70;QD=17.95;RankSumP=0.420764;SB=-3344.57;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1998G>A;refseq.codingCoordStr_2=c.1998G>A;refseq.codonCoord_1=666;refseq.codonCoord_2=666;refseq.end_1=69658771;refseq.end_2=69658771;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2121;refseq.mrnaCoord_2=2126;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V666V;refseq.proteinCoordStr_2=p.V666V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=69658771;refseq.start_2=69658771;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr16 69660770 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1196;Dels=0.00;HRun=0;HaplotypeScore=21.77;MQ=98.96;MQ0=0;OQ=21820.99;QD=18.24;RankSumP=0.437570;SB=-6341.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1875A>G;refseq.codingCoordStr_2=c.1875A>G;refseq.codonCoord_1=625;refseq.codonCoord_2=625;refseq.end_1=69660770;refseq.end_2=69660770;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1998;refseq.mrnaCoord_2=2003;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P625P;refseq.proteinCoordStr_2=p.P625P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-100;refseq.spliceDist_2=-100;refseq.start_1=69660770;refseq.start_2=69660770;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr16 69679909 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=15.58;MQ=28.00;MQ0=509;OQ=494.60;QD=0.88;RankSumP=0.138115;SB=5.04;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1466G>A;refseq.codingCoordStr_2=c.1466G>A;refseq.codonCoord_1=489;refseq.codonCoord_2=489;refseq.end_1=69679909;refseq.end_2=69679909;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1589;refseq.mrnaCoord_2=1594;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G489D;refseq.proteinCoordStr_2=p.G489D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=69679909;refseq.start_2=69679909;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr16 69721080 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=2;HaplotypeScore=3.15;MQ=98.78;MQ0=0;OQ=5542.34;QD=17.48;RankSumP=0.443675;SB=-2269.74;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1191G>A;refseq.codingCoordStr_2=c.1191G>A;refseq.codonCoord_1=397;refseq.codonCoord_2=397;refseq.end_1=69721080;refseq.end_2=69721080;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1314;refseq.mrnaCoord_2=1319;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K397K;refseq.proteinCoordStr_2=p.K397K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=69721080;refseq.start_2=69721080;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr16 69721107 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=1;HaplotypeScore=13.97;MQ=98.77;MQ0=0;OQ=6014.71;QD=19.98;RankSumP=0.487614;SB=-2287.55;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1164G>A;refseq.codingCoordStr_2=c.1164G>A;refseq.codonCoord_1=388;refseq.codonCoord_2=388;refseq.end_1=69721107;refseq.end_2=69721107;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1287;refseq.mrnaCoord_2=1292;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q388Q;refseq.proteinCoordStr_2=p.Q388Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=69721107;refseq.start_2=69721107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr16 69721194 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.96;MQ0=0;OQ=1724.79;QD=5.16;RankSumP=0.402216;SB=-803.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1077T>C;refseq.codingCoordStr_2=c.1077T>C;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=69721194;refseq.end_2=69721194;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1205;refseq.name2_1=HYDIN;refseq.name2_2=HYDIN;refseq.name_1=NM_017558;refseq.name_2=NM_032821;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D359D;refseq.proteinCoordStr_2=p.D359D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=69721194;refseq.start_2=69721194;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr16 69875354 . A C 11.93 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=100;Dels=0.00;HRun=2;HaplotypeScore=8.25;MQ=97.91;MQ0=0;QD=0.12;RankSumP=0.00000;SB=116.40;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1971T>G;refseq.codingCoordStr_2=c.1971T>G;refseq.codonCoord_1=657;refseq.codonCoord_2=657;refseq.end_1=69875354;refseq.end_2=69875354;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2377;refseq.mrnaCoord_2=2521;refseq.name2_1=FTSJD1;refseq.name2_2=FTSJD1;refseq.name_1=NM_001099642;refseq.name_2=NM_018348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G657G;refseq.proteinCoordStr_2=p.G657G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-1651;refseq.spliceDist_2=-1651;refseq.start_1=69875354;refseq.start_2=69875354;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 69876078 . T C 157.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=850.15;QD=15.46;RankSumP=0.723595;SB=-302.92;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1247A>G;refseq.codingCoordStr_2=c.1247A>G;refseq.codonCoord_1=416;refseq.codonCoord_2=416;refseq.end_1=69876078;refseq.end_2=69876078;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1653;refseq.mrnaCoord_2=1797;refseq.name2_1=FTSJD1;refseq.name2_2=FTSJD1;refseq.name_1=NM_001099642;refseq.name_2=NM_018348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N416S;refseq.proteinCoordStr_2=p.N416S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=1266;refseq.spliceDist_2=1266;refseq.start_1=69876078;refseq.start_2=69876078;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr16 69877040 . C T 90.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=15.47;MQ=98.69;MQ0=0;OQ=12385.01;QD=43.61;RankSumP=1.00000;SB=-4675.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.285G>A;refseq.codingCoordStr_2=c.285G>A;refseq.codonCoord_1=95;refseq.codonCoord_2=95;refseq.end_1=69877040;refseq.end_2=69877040;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=691;refseq.mrnaCoord_2=835;refseq.name2_1=FTSJD1;refseq.name2_2=FTSJD1;refseq.name_1=NM_001099642;refseq.name_2=NM_018348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A95A;refseq.proteinCoordStr_2=p.A95A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=304;refseq.spliceDist_2=304;refseq.start_1=69877040;refseq.start_2=69877040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr16 69877147 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.46;MQ0=0;OQ=9516.94;QD=41.56;RankSumP=1.00000;SB=-4260.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.178C>T;refseq.codingCoordStr_2=c.178C>T;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.end_1=69877147;refseq.end_2=69877147;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=728;refseq.name2_1=FTSJD1;refseq.name2_2=FTSJD1;refseq.name_1=NM_001099642;refseq.name_2=NM_018348;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L60F;refseq.proteinCoordStr_2=p.L60F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=197;refseq.spliceDist_2=197;refseq.start_1=69877147;refseq.start_2=69877147;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr16 70040998 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=318;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.89;MQ0=0;OQ=7840.10;QD=24.65;RankSumP=0.324922;SB=-2564.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.431G>C;refseq.codonCoord=144;refseq.end=70040998;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_145911;refseq.name2=ZNF23;refseq.positionType=CDS;refseq.proteinCoordStr=p.G144A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=289;refseq.start=70040998;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr16 70044707 . T C 110.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.96;MQ0=0;OQ=1167.18;QD=14.77;RankSumP=0.0271848;SB=-473.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.82A>G;refseq.codonCoord=28;refseq.end=70044707;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=896;refseq.name=NM_145911;refseq.name2=ZNF23;refseq.positionType=CDS;refseq.proteinCoordStr=p.S28G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=48;refseq.start=70044707;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr16 70067186 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=99.00;MQ0=0;OQ=7957.38;QD=25.42;RankSumP=0.425947;SB=-3088.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.765G>C;refseq.codonCoord=255;refseq.end=70067186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_006961;refseq.name2=ZNF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T255T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=491;refseq.start=70067186;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr16 70067280 . C T 149.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1446.44;QD=16.44;RankSumP=0.394195;SB=-723.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.671G>A;refseq.codonCoord=224;refseq.end=70067280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=940;refseq.name=NM_006961;refseq.name2=ZNF19;refseq.positionType=CDS;refseq.proteinCoordStr=p.R224Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=397;refseq.start=70067280;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 70128486 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.405A>C;refseq.codingCoordStr_2=c.405A>C;refseq.codonCoord_1=135;refseq.codonCoord_2=135;refseq.end_1=70128486;refseq.end_2=70128486;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=668;refseq.mrnaCoord_2=616;refseq.name2_1=CHST4;refseq.name2_2=CHST4;refseq.name_1=NM_001166395;refseq.name_2=NM_005769;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A135A;refseq.proteinCoordStr_2=p.A135A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=423;refseq.spliceDist_2=423;refseq.start_1=70128486;refseq.start_2=70128486;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr16 70226026 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1025C>G;refseq.codonCoord_2=342;refseq.end_1=70231783;refseq.end_2=70226026;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1088;refseq.name2_1=MARVELD3;refseq.name2_2=MARVELD3;refseq.name_1=NM_001017967;refseq.name_2=NM_052858;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A342G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=430;refseq.start_1=70220909;refseq.start_2=70226026;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 70226135 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=3.03;MQ=96.42;MQ0=0;OQ=1049.05;QD=12.20;RankSumP=0.260326;SB=-58.87;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.1134T>G;refseq.codonCoord_2=378;refseq.end_1=70231783;refseq.end_2=70226135;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1197;refseq.name2_1=MARVELD3;refseq.name2_2=MARVELD3;refseq.name_1=NM_001017967;refseq.name_2=NM_052858;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A378A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=539;refseq.start_1=70220909;refseq.start_2=70226135;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr16 70231906 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=360;Dels=0.00;HRun=0;HaplotypeScore=44.70;MQ=98.67;MQ0=0;OQ=4434.77;QD=12.32;RankSumP=0.000618979;SB=-703.99;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.708T>A;refseq.codonCoord=236;refseq.end=70231906;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_001017967;refseq.name2=MARVELD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F236L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=113;refseq.start=70231906;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=filterInsoap-gatk GT 1/0 chr16 70232383 . C G 136.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=219;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=98.80;MQ0=0;OQ=4176.52;QD=19.07;RankSumP=0.142690;SB=-1465.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1185C>G;refseq.codonCoord=395;refseq.end=70232383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_001017967;refseq.name2=MARVELD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P395P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=590;refseq.start=70232383;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr16 70270227 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1200A>G;refseq.codonCoord=400;refseq.end=70270227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_015020;refseq.name2=PHLPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G400G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-69;refseq.start=70270227;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 70453202 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.436A>C;refseq.codonCoord_2=146;refseq.end_1=70474510;refseq.end_2=70453202;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=812;refseq.name2_1=ATXN1L;refseq.name2_2=ZNF821;refseq.name_1=NR_024612;refseq.name_2=NM_017530;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T146P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-23;refseq.start_1=70439486;refseq.start_2=70453202;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr16 70600183 . A C 159.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=105.26;QD=17.54;RankSumP=0.600000;SB=-75.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.19A>C;refseq.codonCoord=7;refseq.end=70600183;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=40;refseq.name=NM_001361;refseq.name2=DHODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.K7Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=70600183;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr16 70691894 . A G 39 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00777001;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1175A>G;refseq.codonCoord=392;refseq.end=70691894;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_014003;refseq.name2=DHX38;refseq.positionType=CDS;refseq.proteinCoordStr=p.E392G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=59;refseq.start=70691894;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 70700858 . C G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=68;Dels=0.00;HRun=2;HaplotypeScore=36.56;MQ=96.15;MQ0=0;OQ=114.07;QD=1.68;RankSumP=9.08060e-08;SB=113.41;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3425C>G;refseq.codonCoord=1142;refseq.end=70700858;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3780;refseq.name=NM_014003;refseq.name2=DHX38;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1142G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=44;refseq.start=70700858;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 70700861 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3428A>G;refseq.codonCoord=1143;refseq.end=70700861;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3783;refseq.name=NM_014003;refseq.name2=DHX38;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1143G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=47;refseq.start=70700861;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 70700912 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=6.70398e-07;SecondBestBaseQ=17;refseq.chr=chr16;refseq.codingCoordStr=c.3477+2;refseq.end=70700912;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014003;refseq.name2=DHX38;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=70700912;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr16 70714343 . T G 356.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=8.55;MQ=98.79;MQ0=0;OQ=4620.12;QD=20.44;RankSumP=0.0858746;SB=-1876.28;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2304A>C;refseq.codingCoordStr_2=c.2739A>C;refseq.codonCoord_1=768;refseq.codonCoord_2=913;refseq.end_1=70714343;refseq.end_2=70714343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3089;refseq.mrnaCoord_2=2911;refseq.name2_1=PMFBP1;refseq.name2_2=PMFBP1;refseq.name_1=NM_001160213;refseq.name_2=NM_031293;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K768N;refseq.proteinCoordStr_2=p.K913N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=70714343;refseq.start_2=70714343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr16 70720467 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=11.93;MQ=98.74;MQ0=0;OQ=3076.39;QD=12.61;RankSumP=0.435302;SB=-566.31;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1514C>A;refseq.codingCoordStr_2=c.1949C>A;refseq.codonCoord_1=505;refseq.codonCoord_2=650;refseq.end_1=70720467;refseq.end_2=70720467;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2299;refseq.mrnaCoord_2=2121;refseq.name2_1=PMFBP1;refseq.name2_2=PMFBP1;refseq.name_1=NM_001160213;refseq.name_2=NM_031293;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T505K;refseq.proteinCoordStr_2=p.T650K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=70720467;refseq.start_2=70720467;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr16 70742067 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=98.47;MQ0=0;OQ=1752.33;QD=19.47;RankSumP=0.276500;SB=-472.82;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.142G>A;refseq.codingCoordStr_2=c.577G>A;refseq.codonCoord_1=48;refseq.codonCoord_2=193;refseq.end_1=70742067;refseq.end_2=70742067;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=749;refseq.name2_1=PMFBP1;refseq.name2_2=PMFBP1;refseq.name_1=NM_001160213;refseq.name_2=NM_031293;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E48K;refseq.proteinCoordStr_2=p.E193K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=70742067;refseq.start_2=70742067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr16 71379126 . C T 38.71 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=97.26;MQ0=0;QD=3.52;RankSumP=0.107071;SB=-10.00;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.7808G>A;refseq.codingCoordStr_2=c.10550G>A;refseq.codonCoord_1=2603;refseq.codonCoord_2=3517;refseq.end_1=71379126;refseq.end_2=71379126;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7937;refseq.mrnaCoord_2=11223;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2603D;refseq.proteinCoordStr_2=p.G3517D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=1123;refseq.spliceDist_2=1123;refseq.start_1=71379126;refseq.start_2=71379126;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr16 71379920 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.7014A>C;refseq.codingCoordStr_2=c.9756A>C;refseq.codonCoord_1=2338;refseq.codonCoord_2=3252;refseq.end_1=71379920;refseq.end_2=71379920;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7143;refseq.mrnaCoord_2=10429;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E2338D;refseq.proteinCoordStr_2=p.E3252D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=329;refseq.spliceDist_2=329;refseq.start_1=71379920;refseq.start_2=71379920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr16 71385259 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=98.48;MQ0=0;OQ=9005.78;QD=39.85;RankSumP=1.00000;SB=-4328.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.6081A>G;refseq.codingCoordStr_2=c.8823A>G;refseq.codonCoord_1=2027;refseq.codonCoord_2=2941;refseq.end_1=71385259;refseq.end_2=71385259;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6210;refseq.mrnaCoord_2=9496;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2027G;refseq.proteinCoordStr_2=p.G2941G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-605;refseq.spliceDist_2=-605;refseq.start_1=71385259;refseq.start_2=71385259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr16 71389636 . T A 354.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.87;MQ0=0;OQ=4421.39;QD=39.13;RankSumP=1.00000;SB=-2156.05;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1704A>T;refseq.codingCoordStr_2=c.4446A>T;refseq.codonCoord_1=568;refseq.codonCoord_2=1482;refseq.end_1=71389636;refseq.end_2=71389636;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1833;refseq.mrnaCoord_2=5119;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A568A;refseq.proteinCoordStr_2=p.A1482A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=479;refseq.spliceDist_2=479;refseq.start_1=71389636;refseq.start_2=71389636;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr16 71549161 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=6.14;MQ=98.06;MQ0=0;OQ=10045.44;QD=43.87;RankSumP=1.00000;SB=-1638.55;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.2385G>C;refseq.codonCoord_2=795;refseq.end_1=71649919;refseq.end_2=71549161;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3058;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P795P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-335;refseq.start_1=71542376;refseq.start_2=71549161;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr16 71549216 . A G 9 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=23;HRun=0;RankSumP=1.00000;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.2330T>C;refseq.codonCoord_2=777;refseq.end_1=71649919;refseq.end_2=71549216;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3003;refseq.name2_1=ZFHX3;refseq.name2_2=ZFHX3;refseq.name_1=NM_001164766;refseq.name_2=NM_006885;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V777A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-390;refseq.start_1=71542376;refseq.start_2=71549216;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/1 chr16 72976803 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.833333;SecondBestBaseQ=18;set=FilteredInAll GT 1/0 chr16 72976812 . C T 6 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=737;Dels=0.00;HRun=1;HaplotypeScore=87.52;MQ=8.92;MQ0=615;OQ=1394.20;QD=1.89;RankSumP=1.00000;SB=-713.63;SecondBestBaseQ=0;set=FilteredInAll GT 1/1 chr16 72982800 . C T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=46.97;MQ=12.33;MQ0=284;OQ=278.13;QD=0.87;RankSumP=0.117249;SB=-50.66;SecondBestBaseQ=32;set=soap-filterIngatk GT 0/1 chr16 72982859 . G A 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.623225;SecondBestBaseQ=34;set=soap GT 1/0 chr16 72982948 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=57.67;MQ0=82;OQ=2395.78;QD=6.03;RankSumP=0.412422;SB=-762.62;SecondBestBaseQ=32;set=Intersection GT 0/1 chr16 72983049 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=634;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=91.78;MQ0=1;OQ=25736.94;QD=40.59;RankSumP=1.00000;SB=-11316.81;SecondBestBaseQ=0;set=Intersection GT 1/1 chr16 72983070 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=673;Dels=0.00;HRun=0;HaplotypeScore=8.49;MQ=87.73;MQ0=1;OQ=8875.55;QD=13.19;RankSumP=0.0164489;SB=-3290.37;SecondBestBaseQ=32;set=Intersection GT 0/1 chr16 72983203 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=5.34;MQ=46.51;MQ0=75;OQ=67.59;QD=0.47;SB=-47.65;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:122,20:56:-26.91,-16.86,-197.68:99 chr16 72983204 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=5;HaplotypeScore=6.18;MQ=46.48;MQ0=73;OQ=102.62;QD=0.74;SB=-49.65;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:118,20:54:-29.80,-16.26,-193.24:99 chr16 72983233 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=53.58;MQ0=27;OQ=73.07;QD=0.95;SB=-6.99;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:60,17:42:-23.24,-12.65,-154.80:99 chr16 73000991 rs616457 C T 48.98 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=708;Dels=0.00;HRun=1;HaplotypeScore=12.73;MQ=7.49;MQ0=627;QD=0.07;SB=44.14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1288G>A;refseq.codonCoord=430;refseq.end=73000991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1488;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D430N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-43;refseq.start=73000991;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:655,50:56:-25.05,-16.87,-187.12:81.82 chr16 73004220 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.736A>C;refseq.codonCoord=246;refseq.end=73004220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T246P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-49;refseq.start=73004220;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 73005015 . T C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=490;Dels=0.00;HRun=1;HaplotypeScore=33.30;MQ=28.64;MQ0=120;OQ=305.30;QD=0.62;RankSumP=0.0877212;SB=27.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.517A>G;refseq.codonCoord=173;refseq.end=73005015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T173A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-38;refseq.start=73005015;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap-filterIngatk GT 1/0 chr16 73009461 . C T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=10.83;MQ0=73;OQ=123.12;QD=1.32;RankSumP=0.710317;SB=-69.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=73009461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T151T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=73009461;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 0/1 chr16 73009471 . G C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.750000;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.443C>G;refseq.codonCoord=148;refseq.end=73009471;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=643;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T148S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-14;refseq.start=73009471;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 0/1 chr16 73009642 rs62052576 A G 0.04 PASS AC=2;AF=1.00;AN=2;DB;DP=176;Dels=0.00;HRun=3;HaplotypeScore=10.08;MQ=3.15;MQ0=174;OQ=50.84;QD=0.29;SB=-10.00;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.272T>C;refseq.codonCoord=91;refseq.end=73009642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_001011880;refseq.name2=CLEC18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I91T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=56;refseq.start=73009642;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=gatk GT:AD:DP:GL:GQ 1/1:131,44:2:-8.49,-0.60,-0.00:6.02 chr16 73057090 . G A 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=923;Dels=0.00;HRun=0;HaplotypeScore=20.00;MQ=98.72;MQ0=0;OQ=34423.69;QD=37.30;RankSumP=1.00000;SB=-15306.31;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_3=c.2619C>T;refseq.codingCoordStr_4=c.2652C>T;refseq.codingCoordStr_5=c.2652C>T;refseq.codonCoord_3=873;refseq.codonCoord_4=884;refseq.codonCoord_5=884;refseq.end_1=73057090;refseq.end_2=73057090;refseq.end_3=73057090;refseq.end_4=73057090;refseq.end_5=73057090;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2811;refseq.mrnaCoord_2=1699;refseq.mrnaCoord_3=2669;refseq.mrnaCoord_4=2702;refseq.mrnaCoord_5=2702;refseq.name2_1=GLG1;refseq.name2_2=GLG1;refseq.name2_3=GLG1;refseq.name2_4=GLG1;refseq.name2_5=GLG1;refseq.name_1=NR_027264;refseq.name_2=NR_027265;refseq.name_3=NM_001145666;refseq.name_4=NM_001145667;refseq.name_5=NM_012201;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.C873C;refseq.proteinCoordStr_4=p.C884C;refseq.proteinCoordStr_5=p.C884C;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceAA_5=Cys;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.referenceCodon_5=TGC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.spliceDist_5=-16;refseq.start_1=73057090;refseq.start_2=73057090;refseq.start_3=73057090;refseq.start_4=73057090;refseq.start_5=73057090;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;refseq.variantCodon_5=TGT;set=soap-filterIngatk GT 1/1 chr16 73123529 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.358232;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_4=c.462C>T;refseq.codingCoordStr_5=c.462C>T;refseq.codonCoord_4=154;refseq.codonCoord_5=154;refseq.end_1=73198045;refseq.end_2=73123529;refseq.end_3=73123529;refseq.end_4=73123529;refseq.end_5=73123529;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=512;refseq.mrnaCoord_3=512;refseq.mrnaCoord_4=512;refseq.mrnaCoord_5=512;refseq.name2_1=GLG1;refseq.name2_2=GLG1;refseq.name2_3=GLG1;refseq.name2_4=GLG1;refseq.name2_5=GLG1;refseq.name_1=NM_001145666;refseq.name_2=NR_027264;refseq.name_3=NR_027265;refseq.name_4=NM_001145667;refseq.name_5=NM_012201;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.D154D;refseq.proteinCoordStr_5=p.D154D;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceDist_5=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.spliceInfo_5=splice-donor_-10;refseq.start_1=73100335;refseq.start_2=73123529;refseq.start_3=73123529;refseq.start_4=73123529;refseq.start_5=73123529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;set=soap GT 1/0 chr16 73123551 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.664096;SecondBestBaseQ=34;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.codingCoordStr_4=c.440C>T;refseq.codingCoordStr_5=c.440C>T;refseq.codonCoord_4=147;refseq.codonCoord_5=147;refseq.end_1=73198045;refseq.end_2=73123551;refseq.end_3=73123551;refseq.end_4=73123551;refseq.end_5=73123551;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=490;refseq.mrnaCoord_3=490;refseq.mrnaCoord_4=490;refseq.mrnaCoord_5=490;refseq.name2_1=GLG1;refseq.name2_2=GLG1;refseq.name2_3=GLG1;refseq.name2_4=GLG1;refseq.name2_5=GLG1;refseq.name_1=NM_001145666;refseq.name_2=NR_027264;refseq.name_3=NR_027265;refseq.name_4=NM_001145667;refseq.name_5=NM_012201;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_4=p.P147L;refseq.proteinCoordStr_5=p.P147L;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.spliceInfo_5=splice-acceptor_2;refseq.start_1=73100335;refseq.start_2=73123551;refseq.start_3=73123551;refseq.start_4=73123551;refseq.start_5=73123551;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;set=soap GT 1/0 chr16 73307906 . G A 394.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.90;MQ0=0;OQ=4371.48;QD=38.35;RankSumP=1.00000;SB=-1397.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.879C>T;refseq.codonCoord=293;refseq.end=73307906;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_024306;refseq.name2=FA2H;refseq.positionType=CDS;refseq.proteinCoordStr=p.P293P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=93;refseq.start=73307906;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr16 73318712 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.437A>C;refseq.codonCoord=146;refseq.end=73318712;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_024306;refseq.name2=FA2H;refseq.positionType=CDS;refseq.proteinCoordStr=p.H146P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-70;refseq.start=73318712;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 73318748 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.401T>G;refseq.codonCoord=134;refseq.end=73318748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_024306;refseq.name2=FA2H;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=38;refseq.start=73318748;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 73465694 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2839A>C;refseq.codonCoord=947;refseq.end=73465694;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2941;refseq.name=NM_030581;refseq.name2=WDR59;refseq.positionType=CDS;refseq.proteinCoordStr=p.T947P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=150;refseq.start=73465694;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 73477692 . G A 267.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.64;MQ0=0;OQ=2541.50;QD=16.83;RankSumP=0.214641;SB=-1196.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2523C>T;refseq.codonCoord=841;refseq.end=73477692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_030581;refseq.name2=WDR59;refseq.positionType=CDS;refseq.proteinCoordStr=p.R841R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-24;refseq.start=73477692;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr16 73761003 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.494T>C;refseq.codonCoord=165;refseq.end=73761003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_153688;refseq.name2=ZFP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L165P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=352;refseq.start=73761003;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 73795604 . C T 272.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=98.49;MQ0=0;OQ=11561.68;QD=37.06;RankSumP=1.00000;SB=-3561.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.748G>A;refseq.codonCoord=250;refseq.end=73795604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=781;refseq.name=NM_001025200;refseq.name2=CTRB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A250T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-110;refseq.start=73795604;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr16 73816118 . C T 106.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.56;MQ0=0;OQ=760.22;QD=19.49;RankSumP=0.533708;SB=-243.93;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.645C>T;refseq.codonCoord=215;refseq.end=73816118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_001906;refseq.name2=CTRB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G215G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=15;refseq.start=73816118;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr16 73826559 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.chr_9=chr16;refseq.codingCoordStr_1=c.1877T>G;refseq.codingCoordStr_2=c.1793T>G;refseq.codingCoordStr_3=c.1793T>G;refseq.codingCoordStr_4=c.1793T>G;refseq.codingCoordStr_5=c.1739T>G;refseq.codingCoordStr_6=c.1733T>G;refseq.codingCoordStr_7=c.1295T>G;refseq.codingCoordStr_8=c.1109T>G;refseq.codingCoordStr_9=c.1739T>G;refseq.codonCoord_1=626;refseq.codonCoord_2=598;refseq.codonCoord_3=598;refseq.codonCoord_4=598;refseq.codonCoord_5=580;refseq.codonCoord_6=578;refseq.codonCoord_7=432;refseq.codonCoord_8=370;refseq.codonCoord_9=580;refseq.end_1=73826559;refseq.end_2=73826559;refseq.end_3=73826559;refseq.end_4=73826559;refseq.end_5=73826559;refseq.end_6=73826559;refseq.end_7=73826559;refseq.end_8=73826559;refseq.end_9=73826559;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=2161;refseq.mrnaCoord_2=1866;refseq.mrnaCoord_3=1823;refseq.mrnaCoord_4=1939;refseq.mrnaCoord_5=1910;refseq.mrnaCoord_6=2000;refseq.mrnaCoord_7=1571;refseq.mrnaCoord_8=2098;refseq.mrnaCoord_9=1885;refseq.name2_1=BCAR1;refseq.name2_2=BCAR1;refseq.name2_3=BCAR1;refseq.name2_4=BCAR1;refseq.name2_5=BCAR1;refseq.name2_6=BCAR1;refseq.name2_7=BCAR1;refseq.name2_8=BCAR1;refseq.name2_9=BCAR1;refseq.name_1=NM_001170714;refseq.name_2=NM_001170715;refseq.name_3=NM_001170716;refseq.name_4=NM_001170717;refseq.name_5=NM_001170718;refseq.name_6=NM_001170719;refseq.name_7=NM_001170720;refseq.name_8=NM_001170721;refseq.name_9=NM_014567;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.V626G;refseq.proteinCoordStr_2=p.V598G;refseq.proteinCoordStr_3=p.V598G;refseq.proteinCoordStr_4=p.V598G;refseq.proteinCoordStr_5=p.V580G;refseq.proteinCoordStr_6=p.V578G;refseq.proteinCoordStr_7=p.V432G;refseq.proteinCoordStr_8=p.V370G;refseq.proteinCoordStr_9=p.V580G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceAA_8=Val;refseq.referenceAA_9=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.referenceCodon_7=GTG;refseq.referenceCodon_8=GTG;refseq.referenceCodon_9=GTG;refseq.spliceDist_1=-272;refseq.spliceDist_2=-272;refseq.spliceDist_3=-272;refseq.spliceDist_4=-272;refseq.spliceDist_5=-272;refseq.spliceDist_6=-272;refseq.spliceDist_7=-272;refseq.spliceDist_8=-272;refseq.spliceDist_9=-272;refseq.start_1=73826559;refseq.start_2=73826559;refseq.start_3=73826559;refseq.start_4=73826559;refseq.start_5=73826559;refseq.start_6=73826559;refseq.start_7=73826559;refseq.start_8=73826559;refseq.start_9=73826559;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;refseq.variantCodon_8=GGG;refseq.variantCodon_9=GGG;set=FilteredInAll GT 0/1 chr16 73826768 . A G 100.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=8.89;MQ=96.27;MQ0=0;OQ=1110.07;QD=20.18;RankSumP=1.00000;SB=-532.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.chr_9=chr16;refseq.codingCoordStr_1=c.1668T>C;refseq.codingCoordStr_2=c.1584T>C;refseq.codingCoordStr_3=c.1584T>C;refseq.codingCoordStr_4=c.1584T>C;refseq.codingCoordStr_5=c.1530T>C;refseq.codingCoordStr_6=c.1524T>C;refseq.codingCoordStr_7=c.1086T>C;refseq.codingCoordStr_8=c.900T>C;refseq.codingCoordStr_9=c.1530T>C;refseq.codonCoord_1=556;refseq.codonCoord_2=528;refseq.codonCoord_3=528;refseq.codonCoord_4=528;refseq.codonCoord_5=510;refseq.codonCoord_6=508;refseq.codonCoord_7=362;refseq.codonCoord_8=300;refseq.codonCoord_9=510;refseq.end_1=73826768;refseq.end_2=73826768;refseq.end_3=73826768;refseq.end_4=73826768;refseq.end_5=73826768;refseq.end_6=73826768;refseq.end_7=73826768;refseq.end_8=73826768;refseq.end_9=73826768;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1952;refseq.mrnaCoord_2=1657;refseq.mrnaCoord_3=1614;refseq.mrnaCoord_4=1730;refseq.mrnaCoord_5=1701;refseq.mrnaCoord_6=1791;refseq.mrnaCoord_7=1362;refseq.mrnaCoord_8=1889;refseq.mrnaCoord_9=1676;refseq.name2_1=BCAR1;refseq.name2_2=BCAR1;refseq.name2_3=BCAR1;refseq.name2_4=BCAR1;refseq.name2_5=BCAR1;refseq.name2_6=BCAR1;refseq.name2_7=BCAR1;refseq.name2_8=BCAR1;refseq.name2_9=BCAR1;refseq.name_1=NM_001170714;refseq.name_2=NM_001170715;refseq.name_3=NM_001170716;refseq.name_4=NM_001170717;refseq.name_5=NM_001170718;refseq.name_6=NM_001170719;refseq.name_7=NM_001170720;refseq.name_8=NM_001170721;refseq.name_9=NM_014567;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.A556A;refseq.proteinCoordStr_2=p.A528A;refseq.proteinCoordStr_3=p.A528A;refseq.proteinCoordStr_4=p.A528A;refseq.proteinCoordStr_5=p.A510A;refseq.proteinCoordStr_6=p.A508A;refseq.proteinCoordStr_7=p.A362A;refseq.proteinCoordStr_8=p.A300A;refseq.proteinCoordStr_9=p.A510A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.referenceCodon_9=GCT;refseq.spliceDist_1=-481;refseq.spliceDist_2=-481;refseq.spliceDist_3=-481;refseq.spliceDist_4=-481;refseq.spliceDist_5=-481;refseq.spliceDist_6=-481;refseq.spliceDist_7=-481;refseq.spliceDist_8=-481;refseq.spliceDist_9=-481;refseq.start_1=73826768;refseq.start_2=73826768;refseq.start_3=73826768;refseq.start_4=73826768;refseq.start_5=73826768;refseq.start_6=73826768;refseq.start_7=73826768;refseq.start_8=73826768;refseq.start_9=73826768;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;refseq.variantCodon_9=GCC;set=Intersection GT 1/1 chr16 73827035 . C T 313.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=96.84;MQ0=0;OQ=933.89;QD=34.59;RankSumP=1.00000;SB=-402.02;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.chr_9=chr16;refseq.codingCoordStr_1=c.1401G>A;refseq.codingCoordStr_2=c.1317G>A;refseq.codingCoordStr_3=c.1317G>A;refseq.codingCoordStr_4=c.1317G>A;refseq.codingCoordStr_5=c.1263G>A;refseq.codingCoordStr_6=c.1257G>A;refseq.codingCoordStr_7=c.819G>A;refseq.codingCoordStr_8=c.633G>A;refseq.codingCoordStr_9=c.1263G>A;refseq.codonCoord_1=467;refseq.codonCoord_2=439;refseq.codonCoord_3=439;refseq.codonCoord_4=439;refseq.codonCoord_5=421;refseq.codonCoord_6=419;refseq.codonCoord_7=273;refseq.codonCoord_8=211;refseq.codonCoord_9=421;refseq.end_1=73827035;refseq.end_2=73827035;refseq.end_3=73827035;refseq.end_4=73827035;refseq.end_5=73827035;refseq.end_6=73827035;refseq.end_7=73827035;refseq.end_8=73827035;refseq.end_9=73827035;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1685;refseq.mrnaCoord_2=1390;refseq.mrnaCoord_3=1347;refseq.mrnaCoord_4=1463;refseq.mrnaCoord_5=1434;refseq.mrnaCoord_6=1524;refseq.mrnaCoord_7=1095;refseq.mrnaCoord_8=1622;refseq.mrnaCoord_9=1409;refseq.name2_1=BCAR1;refseq.name2_2=BCAR1;refseq.name2_3=BCAR1;refseq.name2_4=BCAR1;refseq.name2_5=BCAR1;refseq.name2_6=BCAR1;refseq.name2_7=BCAR1;refseq.name2_8=BCAR1;refseq.name2_9=BCAR1;refseq.name_1=NM_001170714;refseq.name_2=NM_001170715;refseq.name_3=NM_001170716;refseq.name_4=NM_001170717;refseq.name_5=NM_001170718;refseq.name_6=NM_001170719;refseq.name_7=NM_001170720;refseq.name_8=NM_001170721;refseq.name_9=NM_014567;refseq.numMatchingRecords=9;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.P467P;refseq.proteinCoordStr_2=p.P439P;refseq.proteinCoordStr_3=p.P439P;refseq.proteinCoordStr_4=p.P439P;refseq.proteinCoordStr_5=p.P421P;refseq.proteinCoordStr_6=p.P419P;refseq.proteinCoordStr_7=p.P273P;refseq.proteinCoordStr_8=p.P211P;refseq.proteinCoordStr_9=p.P421P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceAA_9=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.referenceCodon_6=CCG;refseq.referenceCodon_7=CCG;refseq.referenceCodon_8=CCG;refseq.referenceCodon_9=CCG;refseq.spliceDist_1=351;refseq.spliceDist_2=351;refseq.spliceDist_3=351;refseq.spliceDist_4=351;refseq.spliceDist_5=351;refseq.spliceDist_6=351;refseq.spliceDist_7=351;refseq.spliceDist_8=351;refseq.spliceDist_9=351;refseq.start_1=73827035;refseq.start_2=73827035;refseq.start_3=73827035;refseq.start_4=73827035;refseq.start_5=73827035;refseq.start_6=73827035;refseq.start_7=73827035;refseq.start_8=73827035;refseq.start_9=73827035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantAA_9=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;refseq.variantCodon_8=CCA;refseq.variantCodon_9=CCA;set=Intersection GT 1/1 chr16 73834048 . T C 82.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=3.92;MQ=38.35;MQ0=5;OQ=1488.32;QD=14.74;RankSumP=0.424242;SB=-626.65;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_2=c.592A>G;refseq.codingCoordStr_3=c.508A>G;refseq.codingCoordStr_4=c.508A>G;refseq.codingCoordStr_5=c.454A>G;refseq.codingCoordStr_6=c.454A>G;refseq.codingCoordStr_7=c.448A>G;refseq.codingCoordStr_8=c.454A>G;refseq.codonCoord_2=198;refseq.codonCoord_3=170;refseq.codonCoord_4=170;refseq.codonCoord_5=152;refseq.codonCoord_6=152;refseq.codonCoord_7=150;refseq.codonCoord_8=152;refseq.end_1=73834302;refseq.end_2=73834048;refseq.end_3=73834048;refseq.end_4=73834048;refseq.end_5=73834048;refseq.end_6=73834048;refseq.end_7=73834048;refseq.end_8=73834048;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_2=876;refseq.mrnaCoord_3=581;refseq.mrnaCoord_4=538;refseq.mrnaCoord_5=600;refseq.mrnaCoord_6=625;refseq.mrnaCoord_7=715;refseq.mrnaCoord_8=600;refseq.name2_1=BCAR1;refseq.name2_2=BCAR1;refseq.name2_3=BCAR1;refseq.name2_4=BCAR1;refseq.name2_5=BCAR1;refseq.name2_6=BCAR1;refseq.name2_7=BCAR1;refseq.name2_8=BCAR1;refseq.name_1=NM_001170720;refseq.name_2=NM_001170714;refseq.name_3=NM_001170715;refseq.name_4=NM_001170716;refseq.name_5=NM_001170717;refseq.name_6=NM_001170718;refseq.name_7=NM_001170719;refseq.name_8=NM_014567;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.T198A;refseq.proteinCoordStr_3=p.T170A;refseq.proteinCoordStr_4=p.T170A;refseq.proteinCoordStr_5=p.T152A;refseq.proteinCoordStr_6=p.T152A;refseq.proteinCoordStr_7=p.T150A;refseq.proteinCoordStr_8=p.T152A;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.referenceCodon_8=ACA;refseq.spliceDist_2=-180;refseq.spliceDist_3=-180;refseq.spliceDist_4=-180;refseq.spliceDist_5=-180;refseq.spliceDist_6=-180;refseq.spliceDist_7=-180;refseq.spliceDist_8=-180;refseq.start_1=73828754;refseq.start_2=73834048;refseq.start_3=73834048;refseq.start_4=73834048;refseq.start_5=73834048;refseq.start_6=73834048;refseq.start_7=73834048;refseq.start_8=73834048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;refseq.variantCodon_8=GCA;set=filterInsoap-gatk GT 1/0 chr16 73834276 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.700000;SecondBestBaseQ=18;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.chr_8=chr16;refseq.codingCoordStr_2=c.364C>T;refseq.codingCoordStr_3=c.280C>T;refseq.codingCoordStr_4=c.280C>T;refseq.codingCoordStr_5=c.226C>T;refseq.codingCoordStr_6=c.226C>T;refseq.codingCoordStr_7=c.220C>T;refseq.codingCoordStr_8=c.226C>T;refseq.codonCoord_2=122;refseq.codonCoord_3=94;refseq.codonCoord_4=94;refseq.codonCoord_5=76;refseq.codonCoord_6=76;refseq.codonCoord_7=74;refseq.codonCoord_8=76;refseq.end_1=73834302;refseq.end_2=73834276;refseq.end_3=73834276;refseq.end_4=73834276;refseq.end_5=73834276;refseq.end_6=73834276;refseq.end_7=73834276;refseq.end_8=73834276;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_2=648;refseq.mrnaCoord_3=353;refseq.mrnaCoord_4=310;refseq.mrnaCoord_5=372;refseq.mrnaCoord_6=397;refseq.mrnaCoord_7=487;refseq.mrnaCoord_8=372;refseq.name2_1=BCAR1;refseq.name2_2=BCAR1;refseq.name2_3=BCAR1;refseq.name2_4=BCAR1;refseq.name2_5=BCAR1;refseq.name2_6=BCAR1;refseq.name2_7=BCAR1;refseq.name2_8=BCAR1;refseq.name_1=NM_001170720;refseq.name_2=NM_001170714;refseq.name_3=NM_001170715;refseq.name_4=NM_001170716;refseq.name_5=NM_001170717;refseq.name_6=NM_001170718;refseq.name_7=NM_001170719;refseq.name_8=NM_014567;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.P122S;refseq.proteinCoordStr_3=p.P94S;refseq.proteinCoordStr_4=p.P94S;refseq.proteinCoordStr_5=p.P76S;refseq.proteinCoordStr_6=p.P76S;refseq.proteinCoordStr_7=p.P74S;refseq.proteinCoordStr_8=p.P76S;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.referenceCodon_6=CCC;refseq.referenceCodon_7=CCC;refseq.referenceCodon_8=CCC;refseq.spliceDist_2=214;refseq.spliceDist_3=214;refseq.spliceDist_4=214;refseq.spliceDist_5=214;refseq.spliceDist_6=214;refseq.spliceDist_7=214;refseq.spliceDist_8=214;refseq.start_1=73828754;refseq.start_2=73834276;refseq.start_3=73834276;refseq.start_4=73834276;refseq.start_5=73834276;refseq.start_6=73834276;refseq.start_7=73834276;refseq.start_8=73834276;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;refseq.variantCodon_7=TCC;refseq.variantCodon_8=TCC;set=FilteredInAll GT 1/0 chr16 73885417 . A G 216.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=449;Dels=0.00;HRun=0;HaplotypeScore=18.02;MQ=98.87;MQ0=0;OQ=9515.39;QD=21.19;RankSumP=0.408334;SB=-2513.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.834T>C;refseq.codonCoord=278;refseq.end=73885417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_006324;refseq.name2=CFDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L278L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=25;refseq.start=73885417;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr16 74219378 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1794T>C;refseq.codingCoordStr_2=c.1710T>C;refseq.codonCoord_1=598;refseq.codonCoord_2=570;refseq.end_1=74219378;refseq.end_2=74219378;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1938;refseq.mrnaCoord_2=1758;refseq.name2_1=KARS;refseq.name2_2=KARS;refseq.name_1=NM_001130089;refseq.name_2=NM_005548;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F598F;refseq.proteinCoordStr_2=p.F570F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=74219378;refseq.start_2=74219378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr16 75786130 . A G 244.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=7.20;MQ=98.61;MQ0=0;OQ=6022.42;QD=36.28;RankSumP=1.00000;SB=-2405.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.873A>G;refseq.codonCoord=291;refseq.end=75786130;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_014940;refseq.name2=MON1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R291R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=398;refseq.start=75786130;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr16 75786214 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.957T>G;refseq.codonCoord=319;refseq.end=75786214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_014940;refseq.name2=MON1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G319G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-339;refseq.start=75786214;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 75786367 . T C 204.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.28;MQ0=0;OQ=2167.94;QD=15.16;RankSumP=0.233865;SB=-360.23;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1110T>C;refseq.codonCoord=370;refseq.end=75786367;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_014940;refseq.name2=MON1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V370V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-186;refseq.start=75786367;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr16 75789691 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1629G>T;refseq.codonCoord=543;refseq.end=75789691;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_014940;refseq.name2=MON1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L543F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=186;refseq.start=75789691;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr16 75882826 . G T 351.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=98.49;MQ0=0;OQ=6873.29;QD=38.83;RankSumP=1.00000;SB=-2777.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.3240C>A;refseq.codonCoord=1080;refseq.end=75882826;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3659;refseq.name=NM_199355;refseq.name2=ADAMTS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1080R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=51;refseq.start=75882826;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr16 75891716 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2619A>C;refseq.codonCoord=873;refseq.end=75891716;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3038;refseq.name=NM_199355;refseq.name2=ADAMTS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.R873S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-56;refseq.start=75891716;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr16 75891731 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2604A>C;refseq.codonCoord=868;refseq.end=75891731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3023;refseq.name=NM_199355;refseq.name2=ADAMTS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.P868P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-71;refseq.start=75891731;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 75891734 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2601T>C;refseq.codonCoord=867;refseq.end=75891734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3020;refseq.name=NM_199355;refseq.name2=ADAMTS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T867T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=69;refseq.start=75891734;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr16 75947457 . A G 246.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.67;MQ0=0;OQ=10804.84;QD=38.05;RankSumP=1.00000;SB=-4735.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1341T>C;refseq.codonCoord=447;refseq.end=75947457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1760;refseq.name=NM_199355;refseq.name2=ADAMTS18;refseq.positionType=CDS;refseq.proteinCoordStr=p.D447D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=19;refseq.start=75947457;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr16 76327335 . G A 299.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=11.23;MQ=98.68;MQ0=0;OQ=2421.02;QD=18.48;RankSumP=0.0315372;SB=-1091.43;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.299G>A;refseq.codonCoord_2=100;refseq.end_1=76332969;refseq.end_2=76327335;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=368;refseq.name2_1=NUDT7;refseq.name2_2=NUDT7;refseq.name_1=NR_024154;refseq.name_2=NM_001105663;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R100H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=-50;refseq.start_1=76316993;refseq.start_2=76327335;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr16 76569060 . C T 276.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.59;MQ0=0;OQ=3188.97;QD=18.76;RankSumP=0.354313;SB=-1029.05;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1227C>T;refseq.codonCoord=409;refseq.end=76569060;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1324;refseq.name=NM_020927;refseq.name2=VAT1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.S409S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=66;refseq.start=76569060;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr16 76622234 . C A 141.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=2;HaplotypeScore=5.11;MQ=98.89;MQ0=0;OQ=6381.83;QD=19.05;RankSumP=0.260622;SB=-1307.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.589C>A;refseq.codonCoord=197;refseq.end=76622234;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_005752;refseq.name2=CLEC3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q197K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=390;refseq.start=76622234;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr16 76699884 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.171A>G;refseq.codingCoordStr_2=c.171A>G;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=76699884;refseq.end_2=76699884;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=296;refseq.name2_1=WWOX;refseq.name2_2=WWOX;refseq.name_1=NM_016373;refseq.name_2=NM_130791;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G57G;refseq.proteinCoordStr_2=p.G57G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=76699884;refseq.start_2=76699884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 76978276 . G A 101.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=2;HaplotypeScore=11.31;MQ=98.99;MQ0=0;OQ=8184.64;QD=19.72;RankSumP=0.301519;SB=-1994.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.535G>A;refseq.codonCoord=179;refseq.end=76978276;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_016373;refseq.name2=WWOX;refseq.positionType=CDS;refseq.proteinCoordStr=p.A179T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=19;refseq.start=76978276;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 79276380 . A G 227.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=462;Dels=0.00;HRun=0;HaplotypeScore=11.77;MQ=98.80;MQ0=0;OQ=18733.41;QD=40.55;RankSumP=1.00000;SB=-7241.22;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.172T>C;refseq.codonCoord=58;refseq.end=79276380;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_152342;refseq.name2=CDYL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L58L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=148;refseq.start=79276380;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 79608466 . A T 262.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.79;MQ0=0;OQ=15226.03;QD=39.34;RankSumP=1.00000;SB=-7330.51;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.252A>T;refseq.codingCoordStr_2=c.252A>T;refseq.codingCoordStr_3=c.252A>T;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.end_1=79608466;refseq.end_2=79608466;refseq.end_3=79608466;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1042;refseq.mrnaCoord_2=1042;refseq.mrnaCoord_3=1042;refseq.name2_1=CENPN;refseq.name2_2=CENPN;refseq.name2_3=CENPN;refseq.name_1=NM_001100624;refseq.name_2=NM_001100625;refseq.name_3=NM_018455;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E84D;refseq.proteinCoordStr_2=p.E84D;refseq.proteinCoordStr_3=p.E84D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=79608466;refseq.start_2=79608466;refseq.start_3=79608466;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr16 79619328 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=6969.90;QD=41.74;RankSumP=1.00000;SB=-1397.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.862G>A;refseq.codingCoordStr_2=c.862G>A;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=79619328;refseq.end_2=79619328;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1652;refseq.mrnaCoord_2=1652;refseq.name2_1=CENPN;refseq.name2_2=CENPN;refseq.name_1=NM_001100624;refseq.name_2=NM_001100625;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E288K;refseq.proteinCoordStr_2=p.E288K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=79619328;refseq.start_2=79619328;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr16 79635416 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=51.66;MQ0=32;OQ=1782.09;QD=22.85;RankSumP=1.00000;SB=-887.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1812T>C;refseq.codonCoord=604;refseq.end=79635416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1830;refseq.name=NM_015251;refseq.name2=ATMIN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A604A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1150;refseq.start=79635416;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr16 79652592 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=537;Dels=0.00;HRun=0;HaplotypeScore=19.30;MQ=98.49;MQ0=0;OQ=20061.79;QD=37.36;RankSumP=1.00000;SB=-8074.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.863T>C;refseq.codingCoordStr_2=c.863T>C;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=79652592;refseq.end_2=79652592;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1033;refseq.mrnaCoord_2=1122;refseq.name2_1=C16orf46;refseq.name2_2=C16orf46;refseq.name_1=NM_001100873;refseq.name_2=NM_152337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I288T;refseq.proteinCoordStr_2=p.I288T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-281;refseq.spliceDist_2=-507;refseq.start_1=79652592;refseq.start_2=79652592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr16 79652864 . C T 387.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3011.33;QD=38.61;RankSumP=1.00000;SB=-876.16;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.591G>A;refseq.codingCoordStr_2=c.591G>A;refseq.codonCoord_1=197;refseq.codonCoord_2=197;refseq.end_1=79652864;refseq.end_2=79652864;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=761;refseq.mrnaCoord_2=850;refseq.name2_1=C16orf46;refseq.name2_2=C16orf46;refseq.name_1=NM_001100873;refseq.name_2=NM_152337;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L197L;refseq.proteinCoordStr_2=p.L197L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=381;refseq.spliceDist_2=381;refseq.start_1=79652864;refseq.start_2=79652864;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr16 79687301 . C T 10.16 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=51.50;MQ0=1;QD=3.39;SB=-10.00;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.84G>A;refseq.codonCoord_3=28;refseq.end_1=79687301;refseq.end_2=79687301;refseq.end_3=79687301;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=181;refseq.mrnaCoord_3=181;refseq.name2_1=LOC100329108;refseq.name2_2=GCSH;refseq.name2_3=GCSH;refseq.name_1=NR_033247;refseq.name_2=NR_033249;refseq.name_3=NM_004483;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P28P;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=79687301;refseq.start_2=79687301;refseq.start_3=79687301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,2:1:-4.26,-0.30,-0.00:1.76 chr16 79766016 . G A 281.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.88;MQ0=0;OQ=5496.21;QD=22.90;RankSumP=0.249383;SB=-2006.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2588C>T;refseq.codonCoord=863;refseq.end=79766016;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2588;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A863V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=79766016;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr16 79768997 . C A 177.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.81;MQ0=0;OQ=904.11;QD=15.32;RankSumP=0.233973;SB=-436.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2353G>T;refseq.codonCoord=785;refseq.end=79768997;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2353;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G785C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-85;refseq.start=79768997;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr16 79769049 . G A 110.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1215.11;QD=15.78;RankSumP=0.281072;SB=-552.99;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2301C>T;refseq.codonCoord=767;refseq.end=79769049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2301;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I767I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=41;refseq.start=79769049;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr16 79770879 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=3.76;MQ=98.35;MQ0=0;OQ=877.14;QD=8.86;RankSumP=0.252879;SB=-357.20;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2132T>C;refseq.codonCoord=711;refseq.end=79770879;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2132;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L711P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=14;refseq.start=79770879;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr16 79776688 . C T 191.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=97.42;MQ0=0;OQ=1008.32;QD=15.05;RankSumP=0.516400;SB=-384.49;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1907G>A;refseq.codonCoord=636;refseq.end=79776688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1907;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R636H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-91;refseq.start=79776688;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr16 79789776 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=226.18;QD=8.08;RankSumP=0.689873;SB=-26.52;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1535C>T;refseq.codonCoord=512;refseq.end=79789776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1535;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P512L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=79789776;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 79790065 . T G 283.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.62;MQ0=0;OQ=1626.15;QD=17.49;RankSumP=0.100030;SB=-780.66;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1246A>C;refseq.codonCoord=416;refseq.end=79790065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K416Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=108;refseq.start=79790065;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr16 79798599 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=711.98;QD=11.48;RankSumP=0.238932;SB=-202.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.903G>A;refseq.codonCoord=301;refseq.end=79798599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P301P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=79798599;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr16 79799695 . T C 166.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=2;HaplotypeScore=5.27;MQ=98.88;MQ0=0;OQ=6391.53;QD=19.31;RankSumP=0.442581;SB=-1698.25;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.662A>G;refseq.codonCoord=221;refseq.end=79799695;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=662;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E221G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=13;refseq.start=79799695;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr16 79799699 . G A 249.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.87;MQ0=0;OQ=6063.80;QD=18.83;RankSumP=0.0974067;SB=-1285.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.658C>T;refseq.codonCoord=220;refseq.end=79799699;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=658;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q220*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=79799699;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 1/0 chr16 79807428 . C T 217.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=97.28;MQ0=0;OQ=1013.45;QD=15.59;RankSumP=0.0263742;SB=-408.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.386G>A;refseq.codonCoord=129;refseq.end=79807428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=386;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G129D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-78;refseq.start=79807428;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr16 79807455 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=22.50;MQ=96.14;MQ0=0;OQ=735.61;QD=10.98;RankSumP=0.521159;SB=-353.64;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.359A>T;refseq.codonCoord=120;refseq.end=79807455;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q120L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=58;refseq.start=79807455;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 79811260 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=458;Dels=0.00;HRun=0;HaplotypeScore=30.13;MQ=98.75;MQ0=0;OQ=8102.54;QD=17.69;RankSumP=0.148936;SB=-3137.58;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.217T>C;refseq.codonCoord=73;refseq.end=79811260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W73R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-85;refseq.start=79811260;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr16 79811418 . A G 312.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=393;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.74;MQ0=0;OQ=7493.16;QD=19.07;RankSumP=0.323240;SB=-2819.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.59T>C;refseq.codonCoord=20;refseq.end=79811418;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=59;refseq.name=NM_001076780;refseq.name2=PKD1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V20A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=59;refseq.start=79811418;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr16 79859195 . A T 110.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.70;MQ0=0;OQ=2612.54;QD=11.82;RankSumP=0.439625;SB=-1324.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.801A>T;refseq.codonCoord=267;refseq.end=79859195;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_017429;refseq.name2=BCMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R267S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-43;refseq.start=79859195;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr16 79861407 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=7.33244e-08;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.986A>C;refseq.codonCoord=329;refseq.end=79861407;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1204;refseq.name=NM_017429;refseq.name2=BCMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N329T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-116;refseq.start=79861407;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr16 79871997 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=11.35;MQ=98.55;MQ0=0;OQ=2094.32;QD=12.47;RankSumP=0.0656649;SB=-265.28;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1136C>T;refseq.codonCoord=379;refseq.end=79871997;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_017429;refseq.name2=BCMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A379V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=35;refseq.start=79871997;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr16 79956136 . C T 424.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.76;MQ0=0;OQ=3563.21;QD=39.16;RankSumP=1.00000;SB=-1088.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1293C>T;refseq.codonCoord=431;refseq.end=79956136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1441;refseq.name=NM_022041;refseq.name2=GAN;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y431Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=57;refseq.start=79956136;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr16 80377177 . A T 109.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=2.21;MQ=98.89;MQ0=0;OQ=1768.87;QD=16.38;RankSumP=0.369436;SB=-823.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.82A>T;refseq.codonCoord=28;refseq.end=80377177;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M28L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-112;refseq.start=80377177;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr16 80377269 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.19;MQ0=0;OQ=2583.16;QD=30.75;RankSumP=1.00000;SB=-708.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.174T>C;refseq.codonCoord=58;refseq.end=80377269;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A58A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-20;refseq.start=80377269;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr16 80445653 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=689;Dels=0.00;HRun=0;HaplotypeScore=24.24;MQ=98.78;MQ0=0;OQ=14389.69;QD=20.88;RankSumP=0.343265;SB=-3186.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.297A>G;refseq.codonCoord=99;refseq.end=80445653;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L99L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-41;refseq.start=80445653;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 80486989 . C T 164.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=502;Dels=0.00;HRun=0;HaplotypeScore=14.66;MQ=98.83;MQ0=0;OQ=8659.12;QD=17.25;RankSumP=0.484602;SB=-3140.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1149C>T;refseq.codonCoord=383;refseq.end=80486989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D383D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-45;refseq.start=80486989;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 80498820 . C T 152.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=14.86;MQ=97.96;MQ0=0;OQ=4713.98;QD=17.72;RankSumP=0.361337;SB=-1129.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1497C>T;refseq.codonCoord=499;refseq.end=80498820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A499A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=30;refseq.start=80498820;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr16 80499529 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.47;MQ0=0;OQ=2662.33;QD=23.15;RankSumP=0.199255;SB=-885.44;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1565C>G;refseq.codonCoord=522;refseq.end=80499529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1712;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P522R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=80499529;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr16 80528904 . T C 334.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=7.44;MQ=98.71;MQ0=0;OQ=5897.36;QD=16.85;RankSumP=0.0875753;SB=-2075.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3093T>C;refseq.codonCoord=1031;refseq.end=80528904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3240;refseq.name=NM_002661;refseq.name2=PLCG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1031N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=41;refseq.start=80528904;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr16 80739882 . T G 125.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=476;Dels=0.00;HRun=0;HaplotypeScore=10.46;MQ=98.78;MQ0=0;OQ=9963.78;QD=20.93;RankSumP=0.116474;SB=-4162.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.438A>C;refseq.codonCoord=146;refseq.end=80739882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_005792;refseq.name2=MPHOSPH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I146I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=88;refseq.start=80739882;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr16 80761243 rs1134847 T C 317.59 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=75.17;MQ0=0;OQ=1355.98;QD=34.77;SB=-585.57;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.39A>G;refseq.codonCoord=13;refseq.end=80761243;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_005792;refseq.name2=MPHOSPH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-13;refseq.start=80761243;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 1/1:0,39:33:-139.19,-9.94,-0.00:99 chr16 80761259 . C T 42.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=71.66;MQ0=0;OQ=1394.50;QD=36.70;RankSumP=0.666667;SB=-673.33;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.23G>A;refseq.codonCoord=8;refseq.end=80761259;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_005792;refseq.name2=MPHOSPH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-29;refseq.start=80761259;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 0/1 chr16 80761269 . G T 27.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=9;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=74.88;MQ0=0;OQ=969.80;QD=27.71;RankSumP=1.00000;SB=-445.48;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.13C>A;refseq.codonCoord=5;refseq.end=80761269;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=62;refseq.name=NM_005792;refseq.name2=MPHOSPH6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-39;refseq.start=80761269;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=filterInsoap-gatk GT 1/1 chr16 82540572 . C T 330.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.00;MQ0=0;OQ=1376.24;QD=35.29;RankSumP=1.00000;SB=-692.70;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.17C>T;refseq.codingCoordStr_2=c.-73C>T;refseq.codonCoord_1=6;refseq.end_1=82540572;refseq.end_2=82540572;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=400;refseq.mrnaCoord_2=400;refseq.name2_1=OSGIN1;refseq.name2_2=OSGIN1;refseq.name_1=NM_013370;refseq.name_2=NM_182980;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.P6L;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCG;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=82540572;refseq.start_2=82540572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTG;set=Intersection GT 1/1 chr16 82542277 rs28555129 A C 11.09 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.09;SB=-10.00;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.101A>C;refseq.codonCoord_2=34;refseq.end_1=82548735;refseq.end_2=82542277;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=484;refseq.name2_1=OSGIN1;refseq.name2_2=OSGIN1;refseq.name_1=NM_182980;refseq.name_2=NM_013370;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N34T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=44;refseq.start_1=82540623;refseq.start_2=82542277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.36,-0.30,-0.00:1.76 chr16 82542345 . A C 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.51;MQ0=0;OQ=373.30;QD=26.66;RankSumP=1.00000;SB=-52.01;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.169A>C;refseq.codonCoord_2=57;refseq.end_1=82548735;refseq.end_2=82542345;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=552;refseq.name2_1=OSGIN1;refseq.name2_2=OSGIN1;refseq.name_1=NM_182980;refseq.name_2=NM_013370;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M57L;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-49;refseq.start_1=82540623;refseq.start_2=82542345;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr16 82542351 . C G 46.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.50;MQ0=0;OQ=492.27;QD=30.77;RankSumP=1.00000;SB=-105.94;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.175C>G;refseq.codonCoord_2=59;refseq.end_1=82548735;refseq.end_2=82542351;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=558;refseq.name2_1=OSGIN1;refseq.name2_2=OSGIN1;refseq.name_1=NM_182980;refseq.name_2=NM_013370;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L59V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=-43;refseq.start_1=82540623;refseq.start_2=82542351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr16 82556929 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.1499A>C;refseq.codingCoordStr_2=c.1250A>C;refseq.codingCoordStr_3=c.1250A>C;refseq.codonCoord_1=500;refseq.codonCoord_2=417;refseq.codonCoord_3=417;refseq.end_1=82556929;refseq.end_2=82556929;refseq.end_3=82556929;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1882;refseq.mrnaCoord_2=1722;refseq.mrnaCoord_3=1431;refseq.name2_1=OSGIN1;refseq.name2_2=OSGIN1;refseq.name2_3=OSGIN1;refseq.name_1=NM_013370;refseq.name_2=NM_182980;refseq.name_3=NM_182981;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D500A;refseq.proteinCoordStr_2=p.D417A;refseq.proteinCoordStr_3=p.D417A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-510;refseq.spliceDist_2=-510;refseq.spliceDist_3=-510;refseq.start_1=82556929;refseq.start_2=82556929;refseq.start_3=82556929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr16 82569605 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=579;Dels=0.00;HRun=0;HaplotypeScore=19.10;MQ=98.93;MQ0=0;OQ=13156.60;QD=22.72;RankSumP=0.194592;SB=-5527.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.282T>C;refseq.codonCoord=94;refseq.end=82569605;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_019065;refseq.name2=NECAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L94L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-54;refseq.start=82569605;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr16 82585515 . C G 103.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=10.77;MQ=98.72;MQ0=0;OQ=1111.74;QD=13.39;RankSumP=0.184976;SB=-256.40;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.704C>G;refseq.codonCoord=235;refseq.end=82585515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_019065;refseq.name2=NECAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T235S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-12;refseq.start=82585515;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr16 82592947 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.31;MQ0=0;OQ=2903.38;QD=26.64;RankSumP=0.193826;SB=-1391.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1057C>G;refseq.codonCoord=353;refseq.end=82592947;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_019065;refseq.name2=NECAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L353V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=17;refseq.start=82592947;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 82684375 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.765T>G;refseq.codonCoord=255;refseq.end=82684375;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1267;refseq.name=NM_003791;refseq.name2=MBTPS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G255G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=29;refseq.start=82684375;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 82767135 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.94;MQ0=0;OQ=3824.12;QD=28.54;RankSumP=0.368698;SB=-531.98;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1794C>G;refseq.codonCoord=598;refseq.end=82767135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1975;refseq.name=NM_178452;refseq.name2=LRRC50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L598L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=96;refseq.start=82767135;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr16 82767239 . T C 199.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=99.00;MQ0=0;OQ=812.23;QD=15.93;RankSumP=0.363471;SB=-302.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1898T>C;refseq.codonCoord=633;refseq.end=82767239;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2079;refseq.name=NM_178452;refseq.name2=LRRC50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L633S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-168;refseq.start=82767239;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr16 82767317 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=9.58;MQ=98.18;MQ0=0;OQ=1087.53;QD=8.84;RankSumP=0.247852;SB=-315.40;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1976T>C;refseq.codonCoord=659;refseq.end=82767317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2157;refseq.name=NM_178452;refseq.name2=LRRC50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L659P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-90;refseq.start=82767317;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr16 82767365 . G C 127.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.39;MQ0=0;OQ=3037.75;QD=13.15;RankSumP=0.225131;SB=-697.09;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2024G>C;refseq.codonCoord=675;refseq.end=82767365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2205;refseq.name=NM_178452;refseq.name2=LRRC50;refseq.positionType=CDS;refseq.proteinCoordStr=p.S675T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-42;refseq.start=82767365;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr16 82770072 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=394.86;QD=9.87;RankSumP=0.284289;SB=-124.68;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2586G>T;refseq.codingCoordStr_2=c.2304G>T;refseq.codonCoord_1=862;refseq.codonCoord_2=768;refseq.end_1=82770072;refseq.end_2=82770072;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2814;refseq.mrnaCoord_2=2572;refseq.name2_1=TAF1C;refseq.name2_2=TAF1C;refseq.name_1=NM_005679;refseq.name_2=NM_139353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R862R;refseq.proteinCoordStr_2=p.R768R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=887;refseq.spliceDist_2=887;refseq.start_1=82770072;refseq.start_2=82770072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr16 82770615 . C T 120.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=99.00;MQ0=0;OQ=517.78;QD=18.49;RankSumP=0.588030;SB=-258.79;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.2043G>A;refseq.codingCoordStr_2=c.1761G>A;refseq.codonCoord_1=681;refseq.codonCoord_2=587;refseq.end_1=82770615;refseq.end_2=82770615;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2271;refseq.mrnaCoord_2=2029;refseq.name2_1=TAF1C;refseq.name2_2=TAF1C;refseq.name_1=NM_005679;refseq.name_2=NM_139353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V681V;refseq.proteinCoordStr_2=p.V587V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=344;refseq.spliceDist_2=344;refseq.start_1=82770615;refseq.start_2=82770615;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr16 82770935 . A T 160.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=95.41;MQ0=0;OQ=691.36;QD=14.40;RankSumP=0.616402;SB=-326.70;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1723T>A;refseq.codingCoordStr_2=c.1441T>A;refseq.codonCoord_1=575;refseq.codonCoord_2=481;refseq.end_1=82770935;refseq.end_2=82770935;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1951;refseq.mrnaCoord_2=1709;refseq.name2_1=TAF1C;refseq.name2_2=TAF1C;refseq.name_1=NM_005679;refseq.name_2=NM_139353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L575M;refseq.proteinCoordStr_2=p.L481M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=82770935;refseq.start_2=82770935;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr16 82772891 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=23.62;MQ=98.55;MQ0=0;OQ=1533.97;QD=7.71;RankSumP=0.150712;SB=-586.45;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.996A>G;refseq.codingCoordStr_2=c.717A>G;refseq.codonCoord_1=332;refseq.codonCoord_2=239;refseq.end_1=82772891;refseq.end_2=82772891;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1224;refseq.mrnaCoord_2=985;refseq.name2_1=TAF1C;refseq.name2_2=TAF1C;refseq.name_1=NM_005679;refseq.name_2=NM_139353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A332A;refseq.proteinCoordStr_2=p.A239A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=82772891;refseq.start_2=82772891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr16 82774563 . C T 285.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.04;MQ0=0;OQ=1831.48;QD=33.92;RankSumP=1.00000;SB=-881.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.272G>A;refseq.codingCoordStr_2=c.71G>A;refseq.codonCoord_1=91;refseq.codonCoord_2=24;refseq.end_1=82774563;refseq.end_2=82774563;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=500;refseq.mrnaCoord_2=339;refseq.name2_1=TAF1C;refseq.name2_2=TAF1C;refseq.name_1=NM_005679;refseq.name_2=NM_139353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C91Y;refseq.proteinCoordStr_2=p.C24Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=82774563;refseq.start_2=82774563;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr16 82782468 . G A 17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.41;MQ0=0;OQ=52.73;QD=5.27;RankSumP=0.116667;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.131G>A;refseq.codingCoordStr_2=c.131G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.end_1=82782468;refseq.end_2=82782468;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=245;refseq.mrnaCoord_2=245;refseq.name2_1=ADAD2;refseq.name2_2=ADAD2;refseq.name_1=NM_001145400;refseq.name_2=NM_139174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G44E;refseq.proteinCoordStr_2=p.G44E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=245;refseq.spliceDist_2=245;refseq.start_1=82782468;refseq.start_2=82782468;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=filterInsoap-gatk GT 1/0 chr16 82785176 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=207;Dels=0.00;HRun=2;HaplotypeScore=23.99;MQ=98.46;MQ0=0;OQ=138.72;QD=0.67;RankSumP=0.00000;SB=363.18;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.482T>G;refseq.codonCoord_2=161;refseq.end_1=82785538;refseq.end_2=82785176;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=596;refseq.name2_1=ADAD2;refseq.name2_2=ADAD2;refseq.name_1=NM_001145400;refseq.name_2=NM_139174;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V161G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=64;refseq.start_1=82782766;refseq.start_2=82785176;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 82786937 . G A 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.20;MQ=97.62;MQ0=0;OQ=212.56;QD=10.63;RankSumP=0.339216;SB=-47.54;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1068G>A;refseq.codingCoordStr_2=c.1314G>A;refseq.codonCoord_1=356;refseq.codonCoord_2=438;refseq.end_1=82786937;refseq.end_2=82786937;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1428;refseq.name2_1=ADAD2;refseq.name2_2=ADAD2;refseq.name_1=NM_001145400;refseq.name_2=NM_139174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S356S;refseq.proteinCoordStr_2=p.S438S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=82786937;refseq.start_2=82786937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr16 82787060 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.36;MQ0=0;OQ=283.56;QD=8.34;RankSumP=0.565372;SB=-105.96;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1191T>C;refseq.codingCoordStr_2=c.1437T>C;refseq.codonCoord_1=397;refseq.codonCoord_2=479;refseq.end_1=82787060;refseq.end_2=82787060;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1305;refseq.mrnaCoord_2=1551;refseq.name2_1=ADAD2;refseq.name2_2=ADAD2;refseq.name_1=NM_001145400;refseq.name_2=NM_139174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S397S;refseq.proteinCoordStr_2=p.S479S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=82787060;refseq.start_2=82787060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr16 82787081 . C T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=198.42;QD=9.02;RankSumP=0.149123;SB=-70.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1212C>T;refseq.codingCoordStr_2=c.1458C>T;refseq.codonCoord_1=404;refseq.codonCoord_2=486;refseq.end_1=82787081;refseq.end_2=82787081;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1326;refseq.mrnaCoord_2=1572;refseq.name2_1=ADAD2;refseq.name2_2=ADAD2;refseq.name_1=NM_001145400;refseq.name_2=NM_139174;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A404A;refseq.proteinCoordStr_2=p.A486A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=82787081;refseq.start_2=82787081;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr16 82814120 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=98.85;MQ0=0;OQ=1250.43;QD=10.00;RankSumP=0.187567;SB=-344.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.764G>A;refseq.codonCoord=255;refseq.end=82814120;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_172347;refseq.name2=KCNG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C255Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=82814120;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr16 82827882 . G A 441.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.55;MQ0=0;OQ=3100.74;QD=39.25;RankSumP=1.00000;SB=-1379.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.711C>T;refseq.codonCoord=237;refseq.end=82827882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=832;refseq.name=NM_172347;refseq.name2=KCNG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S237S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-46;refseq.start=82827882;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr16 82827977 . G A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.44;MQ0=0;OQ=340.78;QD=9.47;RankSumP=0.633824;SB=-144.11;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.616C>T;refseq.codonCoord=206;refseq.end=82827977;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_172347;refseq.name2=KCNG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R206W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-141;refseq.start=82827977;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr16 82909394 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=164;Dels=0.00;HRun=2;HaplotypeScore=19.16;MQ=97.62;MQ0=0;OQ=396.34;QD=2.42;RankSumP=0.00000;SB=167.52;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.353T>G;refseq.codonCoord=118;refseq.end=82909394;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_021197;refseq.name2=WFDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V118G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=16;refseq.start=82909394;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 83001850 . A C 459.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.76;MQ0=0;OQ=6544.69;QD=41.16;RankSumP=1.00000;SB=-2418.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.493A>C;refseq.codonCoord=165;refseq.end=83001850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_014861;refseq.name2=ATP2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M165L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-23;refseq.start=83001850;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 83039719 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=5;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1583T>C;refseq.codonCoord=528;refseq.end=83039719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1672;refseq.name=NM_014861;refseq.name2=ATP2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I528T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-78;refseq.start=83039719;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr16 83043074 . C A 128.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.88;MQ0=0;OQ=3588.19;QD=29.65;RankSumP=1.00000;SB=-1355.66;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1707C>A;refseq.codonCoord=569;refseq.end=83043074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1796;refseq.name=NM_014861;refseq.name2=ATP2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L569L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=47;refseq.start=83043074;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr16 83043178 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.83;MQ0=0;OQ=1880.17;QD=14.14;RankSumP=0.411862;SB=-754.17;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1811T>A;refseq.codonCoord=604;refseq.end=83043178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1900;refseq.name=NM_014861;refseq.name2=ATP2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L604Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-21;refseq.start=83043178;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr16 83052905 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=134;Dels=0.00;HRun=2;HaplotypeScore=21.71;MQ=97.11;MQ0=0;OQ=99.55;QD=0.74;RankSumP=0.00000;SB=101.34;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2566A>C;refseq.codonCoord=856;refseq.end=83052905;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2655;refseq.name=NM_014861;refseq.name2=ATP2C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T856P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-15;refseq.start=83052905;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 83073810 . G A 240.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=2426.00;QD=17.71;RankSumP=0.183913;SB=-730.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.966C>T;refseq.codonCoord=322;refseq.end=83073810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1073;refseq.name=NM_020947;refseq.name2=KIAA1609;refseq.positionType=CDS;refseq.proteinCoordStr=p.N322N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=83073810;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr16 83077826 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=301;Dels=0.00;HRun=4;HaplotypeScore=6.89;MQ=98.85;MQ0=0;OQ=5137.84;QD=17.07;RankSumP=0.0364244;SB=-1797.23;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.870A>G;refseq.codonCoord=290;refseq.end=83077826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=977;refseq.name=NM_020947;refseq.name2=KIAA1609;refseq.positionType=CDS;refseq.proteinCoordStr=p.G290G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-89;refseq.start=83077826;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr16 83077897 . A G 390.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.52;MQ0=0;OQ=4302.07;QD=35.26;RankSumP=1.00000;SB=-1260.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.799T>C;refseq.codonCoord=267;refseq.end=83077897;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_020947;refseq.name2=KIAA1609;refseq.positionType=CDS;refseq.proteinCoordStr=p.C267R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-160;refseq.start=83077897;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr16 83078038 . T C 383.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=4224.76;QD=36.74;RankSumP=1.00000;SB=-1679.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.658A>G;refseq.codonCoord=220;refseq.end=83078038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_020947;refseq.name2=KIAA1609;refseq.positionType=CDS;refseq.proteinCoordStr=p.I220V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=129;refseq.start=83078038;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr16 83080398 . G C 265.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.77;MQ0=0;OQ=2869.99;QD=15.27;RankSumP=0.326674;SB=-1024.44;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.516C>G;refseq.codonCoord=172;refseq.end=83080398;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=623;refseq.name=NM_020947;refseq.name2=KIAA1609;refseq.positionType=CDS;refseq.proteinCoordStr=p.D172E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-14;refseq.start=83080398;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr16 83248545 . C T 101.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.62;MQ0=0;OQ=1668.52;QD=13.68;RankSumP=0.370172;SB=-837.31;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.631C>T;refseq.codonCoord=211;refseq.end=83248545;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_024731;refseq.name2=KLHL36;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-507;refseq.start=83248545;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr16 83248934 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=21;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=97.56;MQ0=0;OQ=295.55;QD=14.07;RankSumP=0.407404;SB=-154.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1020C>T;refseq.codonCoord=340;refseq.end=83248934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_024731;refseq.name2=KLHL36;refseq.positionType=CDS;refseq.proteinCoordStr=p.V340V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-118;refseq.start=83248934;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr16 83252781 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.88;MQ0=0;OQ=1704.19;QD=13.53;RankSumP=0.320436;SB=-413.18;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1392A>G;refseq.codonCoord=464;refseq.end=83252781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1533;refseq.name=NM_024731;refseq.name2=KLHL36;refseq.positionType=CDS;refseq.proteinCoordStr=p.L464L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=97;refseq.start=83252781;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr16 83252991 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=97.25;MQ0=0;OQ=456.86;QD=13.05;RankSumP=0.413945;SB=-102.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1602C>T;refseq.codonCoord=534;refseq.end=83252991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1743;refseq.name=NM_024731;refseq.name2=KLHL36;refseq.positionType=CDS;refseq.proteinCoordStr=p.H534H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=307;refseq.start=83252991;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr16 83436965 . A G 232.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.38;MQ0=0;OQ=4249.02;QD=36.01;RankSumP=1.00000;SB=-585.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.313A>G;refseq.codonCoord=105;refseq.end=83436965;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_031476;refseq.name2=CRISPLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S105G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-47;refseq.start=83436965;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr16 83567471 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=10.74;MQ=98.96;MQ0=0;OQ=1448.32;QD=11.14;RankSumP=0.0148151;SB=-541.65;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1017T>C;refseq.codingCoordStr_2=c.906T>C;refseq.codonCoord_1=339;refseq.codonCoord_2=302;refseq.end_1=83567471;refseq.end_2=83567471;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1259;refseq.name2_1=ZDHHC7;refseq.name2_2=ZDHHC7;refseq.name_1=NM_001145548;refseq.name_2=NM_017740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G339G;refseq.proteinCoordStr_2=p.G302G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=156;refseq.spliceDist_2=156;refseq.start_1=83567471;refseq.start_2=83567471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr16 83573042 . G A 266.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=11.21;MQ=98.35;MQ0=0;OQ=4628.22;QD=19.45;RankSumP=0.238032;SB=-868.10;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.486C>T;refseq.codingCoordStr_2=c.375C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=125;refseq.end_1=83573042;refseq.end_2=83573042;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=839;refseq.mrnaCoord_2=728;refseq.name2_1=ZDHHC7;refseq.name2_2=ZDHHC7;refseq.name_1=NM_001145548;refseq.name_2=NM_017740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P162P;refseq.proteinCoordStr_2=p.P125P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=83573042;refseq.start_2=83573042;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr16 83690384 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=229;Dels=0.00;HRun=2;HaplotypeScore=10.67;MQ=97.46;MQ0=0;OQ=89.15;QD=0.39;RankSumP=0.00000;SB=167.51;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.823T>G;refseq.codonCoord=275;refseq.end=83690384;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_198491;refseq.name2=FAM92B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F275V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=70;refseq.start=83690384;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr16 83696505 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.466T>C;refseq.codonCoord=156;refseq.end=83696505;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_198491;refseq.name2=FAM92B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S156P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=40;refseq.start=83696505;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 83699162 . G A 214.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=98.74;MQ0=0;OQ=1601.74;QD=14.43;RankSumP=0.424814;SB=-689.71;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.300C>T;refseq.codonCoord=100;refseq.end=83699162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_198491;refseq.name2=FAM92B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y100Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-25;refseq.start=83699162;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr16 84262123 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3125T>G;refseq.codingCoordStr_2=c.3437T>G;refseq.codonCoord_1=1042;refseq.codonCoord_2=1146;refseq.end_1=84262123;refseq.end_2=84262123;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3320;refseq.mrnaCoord_2=3511;refseq.name2_1=KIAA0182;refseq.name2_2=KIAA0182;refseq.name_1=NM_001134473;refseq.name_2=NM_014615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1042G;refseq.proteinCoordStr_2=p.V1146G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=84262123;refseq.start_2=84262123;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr16 84263548 . A C 385.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3940.21;QD=36.82;RankSumP=1.00000;SB=-1715.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.3244A>C;refseq.codingCoordStr_2=c.3556A>C;refseq.codonCoord_1=1082;refseq.codonCoord_2=1186;refseq.end_1=84263548;refseq.end_2=84263548;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3439;refseq.mrnaCoord_2=3630;refseq.name2_1=KIAA0182;refseq.name2_2=KIAA0182;refseq.name_1=NM_001134473;refseq.name_2=NM_014615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1082R;refseq.proteinCoordStr_2=p.R1186R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=84263548;refseq.start_2=84263548;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr16 84269361 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=165;Dels=0.00;HRun=2;HaplotypeScore=14.25;MQ=98.51;MQ0=0;OQ=2586.49;QD=15.68;RankSumP=0.415980;SB=-901.40;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=84269361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=600;refseq.name=NM_016095;refseq.name2=GINS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T172T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=84;refseq.start=84269361;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr16 84396154 . T C 123.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=12.85;MQ=97.77;MQ0=0;OQ=5942.58;QD=26.18;RankSumP=1.00000;SB=-2188.90;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.184T>C;refseq.codonCoord=62;refseq.end=84396154;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_001861;refseq.name2=COX4I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L62L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-58;refseq.start=84396154;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr16 84500144 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=168;Dels=0.00;HRun=2;HaplotypeScore=74.10;MQ=97.45;MQ0=0;OQ=89.13;QD=0.53;RankSumP=0.00000;SB=269.90;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.222A>C;refseq.codonCoord=74;refseq.end=84500144;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_002163;refseq.name2=IRF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E74D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=48;refseq.start=84500144;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr16 84509892 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.970A>C;refseq.codonCoord=324;refseq.end=84509892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_002163;refseq.name2=IRF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T324P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-19;refseq.start=84509892;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr16 84511264 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1037T>G;refseq.codonCoord=346;refseq.end=84511264;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_002163;refseq.name2=IRF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V346G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=49;refseq.start=84511264;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 85123327 . C G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1127.28;QD=40.26;RankSumP=1.00000;SB=-448.21;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_3=c.943G>C;refseq.codingCoordStr_4=c.943G>C;refseq.codingCoordStr_5=c.940G>C;refseq.codingCoordStr_6=c.883G>C;refseq.codingCoordStr_7=c.940G>C;refseq.codonCoord_3=315;refseq.codonCoord_4=315;refseq.codonCoord_5=314;refseq.codonCoord_6=295;refseq.codonCoord_7=314;refseq.end_1=85123327;refseq.end_2=85123327;refseq.end_3=85123327;refseq.end_4=85123327;refseq.end_5=85123327;refseq.end_6=85123327;refseq.end_7=85123327;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1064;refseq.mrnaCoord_2=1054;refseq.mrnaCoord_3=994;refseq.mrnaCoord_4=994;refseq.mrnaCoord_5=991;refseq.mrnaCoord_6=958;refseq.mrnaCoord_7=991;refseq.name2_1=MTHFSD;refseq.name2_2=MTHFSD;refseq.name2_3=MTHFSD;refseq.name2_4=MTHFSD;refseq.name2_5=MTHFSD;refseq.name2_6=MTHFSD;refseq.name2_7=MTHFSD;refseq.name_1=NR_027489;refseq.name_2=NR_027490;refseq.name_3=NM_001159377;refseq.name_4=NM_001159378;refseq.name_5=NM_001159379;refseq.name_6=NM_001159380;refseq.name_7=NM_022764;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.G315R;refseq.proteinCoordStr_4=p.G315R;refseq.proteinCoordStr_5=p.G314R;refseq.proteinCoordStr_6=p.G295R;refseq.proteinCoordStr_7=p.G314R;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.referenceCodon_5=GGG;refseq.referenceCodon_6=GGG;refseq.referenceCodon_7=GGG;refseq.spliceDist_1=262;refseq.spliceDist_2=262;refseq.spliceDist_3=262;refseq.spliceDist_4=262;refseq.spliceDist_5=262;refseq.spliceDist_6=262;refseq.spliceDist_7=262;refseq.start_1=85123327;refseq.start_2=85123327;refseq.start_3=85123327;refseq.start_4=85123327;refseq.start_5=85123327;refseq.start_6=85123327;refseq.start_7=85123327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;refseq.variantCodon_6=CGG;refseq.variantCodon_7=CGG;set=Intersection GT 1/1 chr16 85123383 . G C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.27;MQ0=0;OQ=86.37;QD=5.40;RankSumP=0.649038;SB=-46.43;SecondBestBaseQ=28;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_3=c.887C>G;refseq.codingCoordStr_4=c.887C>G;refseq.codingCoordStr_5=c.884C>G;refseq.codingCoordStr_6=c.827C>G;refseq.codingCoordStr_7=c.884C>G;refseq.codonCoord_3=296;refseq.codonCoord_4=296;refseq.codonCoord_5=295;refseq.codonCoord_6=276;refseq.codonCoord_7=295;refseq.end_1=85123383;refseq.end_2=85123383;refseq.end_3=85123383;refseq.end_4=85123383;refseq.end_5=85123383;refseq.end_6=85123383;refseq.end_7=85123383;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=998;refseq.mrnaCoord_3=938;refseq.mrnaCoord_4=938;refseq.mrnaCoord_5=935;refseq.mrnaCoord_6=902;refseq.mrnaCoord_7=935;refseq.name2_1=MTHFSD;refseq.name2_2=MTHFSD;refseq.name2_3=MTHFSD;refseq.name2_4=MTHFSD;refseq.name2_5=MTHFSD;refseq.name2_6=MTHFSD;refseq.name2_7=MTHFSD;refseq.name_1=NR_027489;refseq.name_2=NR_027490;refseq.name_3=NM_001159377;refseq.name_4=NM_001159378;refseq.name_5=NM_001159379;refseq.name_6=NM_001159380;refseq.name_7=NM_022764;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.S296C;refseq.proteinCoordStr_4=p.S296C;refseq.proteinCoordStr_5=p.S295C;refseq.proteinCoordStr_6=p.S276C;refseq.proteinCoordStr_7=p.S295C;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.referenceCodon_7=TCC;refseq.spliceDist_1=206;refseq.spliceDist_2=206;refseq.spliceDist_3=206;refseq.spliceDist_4=206;refseq.spliceDist_5=206;refseq.spliceDist_6=206;refseq.spliceDist_7=206;refseq.start_1=85123383;refseq.start_2=85123383;refseq.start_3=85123383;refseq.start_4=85123383;refseq.start_5=85123383;refseq.start_6=85123383;refseq.start_7=85123383;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantAA_6=Cys;refseq.variantAA_7=Cys;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;refseq.variantCodon_5=TGC;refseq.variantCodon_6=TGC;refseq.variantCodon_7=TGC;set=Intersection GT 0/1 chr16 85123540 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=282.45;QD=17.65;RankSumP=0.0439560;SB=-158.62;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_3=c.730G>A;refseq.codingCoordStr_4=c.730G>A;refseq.codingCoordStr_5=c.727G>A;refseq.codingCoordStr_6=c.670G>A;refseq.codingCoordStr_7=c.727G>A;refseq.codonCoord_3=244;refseq.codonCoord_4=244;refseq.codonCoord_5=243;refseq.codonCoord_6=224;refseq.codonCoord_7=243;refseq.end_1=85123540;refseq.end_2=85123540;refseq.end_3=85123540;refseq.end_4=85123540;refseq.end_5=85123540;refseq.end_6=85123540;refseq.end_7=85123540;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=851;refseq.mrnaCoord_2=841;refseq.mrnaCoord_3=781;refseq.mrnaCoord_4=781;refseq.mrnaCoord_5=778;refseq.mrnaCoord_6=745;refseq.mrnaCoord_7=778;refseq.name2_1=MTHFSD;refseq.name2_2=MTHFSD;refseq.name2_3=MTHFSD;refseq.name2_4=MTHFSD;refseq.name2_5=MTHFSD;refseq.name2_6=MTHFSD;refseq.name2_7=MTHFSD;refseq.name_1=NR_027489;refseq.name_2=NR_027490;refseq.name_3=NM_001159377;refseq.name_4=NM_001159378;refseq.name_5=NM_001159379;refseq.name_6=NM_001159380;refseq.name_7=NM_022764;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.A244T;refseq.proteinCoordStr_4=p.A244T;refseq.proteinCoordStr_5=p.A243T;refseq.proteinCoordStr_6=p.A224T;refseq.proteinCoordStr_7=p.A243T;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.spliceDist_4=49;refseq.spliceDist_5=49;refseq.spliceDist_6=49;refseq.spliceDist_7=49;refseq.start_1=85123540;refseq.start_2=85123540;refseq.start_3=85123540;refseq.start_4=85123540;refseq.start_5=85123540;refseq.start_6=85123540;refseq.start_7=85123540;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=Intersection GT 0/1 chr16 85123543 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=257.02;QD=18.36;RankSumP=0.114219;SB=-125.62;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_3=c.727C>T;refseq.codingCoordStr_4=c.727C>T;refseq.codingCoordStr_5=c.724C>T;refseq.codingCoordStr_6=c.667C>T;refseq.codingCoordStr_7=c.724C>T;refseq.codonCoord_3=243;refseq.codonCoord_4=243;refseq.codonCoord_5=242;refseq.codonCoord_6=223;refseq.codonCoord_7=242;refseq.end_1=85123543;refseq.end_2=85123543;refseq.end_3=85123543;refseq.end_4=85123543;refseq.end_5=85123543;refseq.end_6=85123543;refseq.end_7=85123543;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=848;refseq.mrnaCoord_2=838;refseq.mrnaCoord_3=778;refseq.mrnaCoord_4=778;refseq.mrnaCoord_5=775;refseq.mrnaCoord_6=742;refseq.mrnaCoord_7=775;refseq.name2_1=MTHFSD;refseq.name2_2=MTHFSD;refseq.name2_3=MTHFSD;refseq.name2_4=MTHFSD;refseq.name2_5=MTHFSD;refseq.name2_6=MTHFSD;refseq.name2_7=MTHFSD;refseq.name_1=NR_027489;refseq.name_2=NR_027490;refseq.name_3=NM_001159377;refseq.name_4=NM_001159378;refseq.name_5=NM_001159379;refseq.name_6=NM_001159380;refseq.name_7=NM_022764;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.R243C;refseq.proteinCoordStr_4=p.R243C;refseq.proteinCoordStr_5=p.R242C;refseq.proteinCoordStr_6=p.R223C;refseq.proteinCoordStr_7=p.R242C;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.referenceCodon_7=CGC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.spliceDist_5=46;refseq.spliceDist_6=46;refseq.spliceDist_7=46;refseq.start_1=85123543;refseq.start_2=85123543;refseq.start_3=85123543;refseq.start_4=85123543;refseq.start_5=85123543;refseq.start_6=85123543;refseq.start_7=85123543;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantAA_6=Cys;refseq.variantAA_7=Cys;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;refseq.variantCodon_5=TGC;refseq.variantCodon_6=TGC;refseq.variantCodon_7=TGC;set=Intersection GT 1/0 chr16 85133238 . C T 300.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=98.76;MQ0=0;OQ=5850.43;QD=15.98;RankSumP=6.77612e-06;SB=-2161.65;SecondBestBaseQ=28;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_3=c.525G>A;refseq.codingCoordStr_4=c.525G>A;refseq.codingCoordStr_5=c.522G>A;refseq.codingCoordStr_6=c.465G>A;refseq.codingCoordStr_7=c.522G>A;refseq.codonCoord_3=175;refseq.codonCoord_4=175;refseq.codonCoord_5=174;refseq.codonCoord_6=155;refseq.codonCoord_7=174;refseq.end_1=85133238;refseq.end_2=85133238;refseq.end_3=85133238;refseq.end_4=85133238;refseq.end_5=85133238;refseq.end_6=85133238;refseq.end_7=85133238;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=646;refseq.mrnaCoord_2=636;refseq.mrnaCoord_3=576;refseq.mrnaCoord_4=576;refseq.mrnaCoord_5=573;refseq.mrnaCoord_6=540;refseq.mrnaCoord_7=573;refseq.name2_1=MTHFSD;refseq.name2_2=MTHFSD;refseq.name2_3=MTHFSD;refseq.name2_4=MTHFSD;refseq.name2_5=MTHFSD;refseq.name2_6=MTHFSD;refseq.name2_7=MTHFSD;refseq.name_1=NR_027489;refseq.name_2=NR_027490;refseq.name_3=NM_001159377;refseq.name_4=NM_001159378;refseq.name_5=NM_001159379;refseq.name_6=NM_001159380;refseq.name_7=NM_022764;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_3=p.T175T;refseq.proteinCoordStr_4=p.T175T;refseq.proteinCoordStr_5=p.T174T;refseq.proteinCoordStr_6=p.T155T;refseq.proteinCoordStr_7=p.T174T;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.spliceDist_6=-31;refseq.spliceDist_7=-31;refseq.start_1=85133238;refseq.start_2=85133238;refseq.start_3=85133238;refseq.start_4=85133238;refseq.start_5=85133238;refseq.start_6=85133238;refseq.start_7=85133238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;set=filterInsoap-gatk GT 0/1 chr16 86003340 . C T 348.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=98.80;MQ0=0;OQ=7105.65;QD=38.62;RankSumP=1.00000;SB=-2604.43;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2077G>A;refseq.codonCoord=693;refseq.end=86003340;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2104;refseq.name=NM_015144;refseq.name2=ZCCHC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.V693M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-718;refseq.start=86003340;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr16 86003554 . G A 236.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=98.77;MQ0=0;OQ=5388.61;QD=36.66;RankSumP=1.00000;SB=-1400.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1863C>T;refseq.codonCoord=621;refseq.end=86003554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1890;refseq.name=NM_015144;refseq.name2=ZCCHC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A621A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=530;refseq.start=86003554;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr16 86005569 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=6;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1144A>C;refseq.codonCoord=382;refseq.end=86005569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_015144;refseq.name2=ZCCHC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.T382P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-49;refseq.start=86005569;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 86235645 . T C 79.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.43;MQ0=0;OQ=1059.49;QD=29.43;RankSumP=1.00000;SB=-464.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=86235645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_020655;refseq.name2=JPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S221S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=281;refseq.start=86235645;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 86235666 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.77;MQ0=0;OQ=441.39;QD=10.77;RankSumP=0.590488;SB=-242.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.684G>A;refseq.codonCoord=228;refseq.end=86235666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_020655;refseq.name2=JPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S228S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=302;refseq.start=86235666;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr16 86235750 . G A 220.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=7.90;MQ=97.67;MQ0=0;OQ=1739.03;QD=14.86;RankSumP=0.228364;SB=-649.68;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.768G>A;refseq.codonCoord=256;refseq.end=86235750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_020655;refseq.name2=JPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T256T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=386;refseq.start=86235750;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr16 86281339 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=43;Dels=0.00;HRun=4;HaplotypeScore=3.17;MQ=98.38;MQ0=0;OQ=636.12;QD=14.79;RankSumP=0.506976;SB=-219.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1872T>C;refseq.codonCoord=624;refseq.end=86281339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2126;refseq.name=NM_020655;refseq.name2=JPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H624H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-295;refseq.start=86281339;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 86299555 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1466A>G;refseq.codonCoord=489;refseq.end=86299555;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1512;refseq.name=NM_017566;refseq.name2=KLHDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E489G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=19;refseq.start=86299555;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 86339897 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=18.09;MQ=97.77;MQ0=0;OQ=941.95;QD=8.41;RankSumP=0.148586;SB=-346.18;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.389G>T;refseq.codonCoord=130;refseq.end=86339897;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_017566;refseq.name2=KLHDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G130V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=20;refseq.start=86339897;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr16 86346337 . G A 266.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.76;MQ0=0;OQ=2189.53;QD=17.80;RankSumP=0.289991;SB=-994.15;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.333C>T;refseq.codonCoord=111;refseq.end=86346337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=379;refseq.name=NM_017566;refseq.name2=KLHDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D111D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-37;refseq.start=86346337;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr16 86346365 . G A 184.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1580.33;QD=16.29;RankSumP=0.398044;SB=-384.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.305C>T;refseq.codonCoord=102;refseq.end=86346365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_017566;refseq.name2=KLHDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T102I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=35;refseq.start=86346365;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr16 86353081 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.31;MQ0=0;OQ=5033.84;QD=27.51;RankSumP=0.294929;SB=-1577.76;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.166C>G;refseq.codonCoord=56;refseq.end=86353081;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_017566;refseq.name2=KLHDC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L56V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-26;refseq.start=86353081;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr16 86460185 . G T 141.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=47.58;MQ0=1;OQ=1286.09;QD=17.62;RankSumP=1.00000;SB=-427.21;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.345C>A;refseq.codonCoord=115;refseq.end=86460185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_003486;refseq.name2=SLC7A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G115G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-194;refseq.start=86460185;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=filterInsoap-gatk GT 1/1 chr16 86482931 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=55;Dels=0.00;HRun=2;HaplotypeScore=3.64;MQ=61.07;MQ0=8;OQ=407.85;QD=7.42;RankSumP=0.694249;SB=-149.26;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.749A>G;refseq.codonCoord=250;refseq.end=86482931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=805;refseq.name=NM_001739;refseq.name2=CA5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E250G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-26;refseq.start=86482931;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr16 86493047 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.590T>G;refseq.codonCoord=197;refseq.end=86493047;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=646;refseq.name=NM_001739;refseq.name2=CA5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-29;refseq.start=86493047;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr16 86575310 . C T 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=79.20;MQ0=6;OQ=250.86;QD=8.65;RankSumP=0.128070;SB=-146.57;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_1=c.306C>T;refseq.codingCoordStr_2=c.324C>T;refseq.codingCoordStr_3=c.306C>T;refseq.codingCoordStr_4=c.306C>T;refseq.codingCoordStr_5=c.282C>T;refseq.codingCoordStr_6=c.306C>T;refseq.codingCoordStr_7=c.306C>T;refseq.codonCoord_1=102;refseq.codonCoord_2=108;refseq.codonCoord_3=102;refseq.codonCoord_4=102;refseq.codonCoord_5=94;refseq.codonCoord_6=102;refseq.codonCoord_7=102;refseq.end_1=86575310;refseq.end_2=86575310;refseq.end_3=86575310;refseq.end_4=86575310;refseq.end_5=86575310;refseq.end_6=86575310;refseq.end_7=86575310;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=458;refseq.mrnaCoord_2=476;refseq.mrnaCoord_3=458;refseq.mrnaCoord_4=497;refseq.mrnaCoord_5=503;refseq.mrnaCoord_6=458;refseq.mrnaCoord_7=458;refseq.name2_1=BANP;refseq.name2_2=BANP;refseq.name2_3=BANP;refseq.name2_4=BANP;refseq.name2_5=BANP;refseq.name2_6=BANP;refseq.name2_7=BANP;refseq.name_1=NM_001173539;refseq.name_2=NM_001173540;refseq.name_3=NM_001173541;refseq.name_4=NM_001173542;refseq.name_5=NM_001173543;refseq.name_6=NM_017869;refseq.name_7=NM_079837;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.V102V;refseq.proteinCoordStr_2=p.V108V;refseq.proteinCoordStr_3=p.V102V;refseq.proteinCoordStr_4=p.V102V;refseq.proteinCoordStr_5=p.V94V;refseq.proteinCoordStr_6=p.V102V;refseq.proteinCoordStr_7=p.V102V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.referenceCodon_5=GTC;refseq.referenceCodon_6=GTC;refseq.referenceCodon_7=GTC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.spliceDist_4=-57;refseq.spliceDist_5=-57;refseq.spliceDist_6=-57;refseq.spliceDist_7=-57;refseq.start_1=86575310;refseq.start_2=86575310;refseq.start_3=86575310;refseq.start_4=86575310;refseq.start_5=86575310;refseq.start_6=86575310;refseq.start_7=86575310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=Intersection GT 0/1 chr16 86609647 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=75.22;MQ0=3;OQ=1346.62;QD=15.84;RankSumP=0.309218;SB=-82.08;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_1=c.768C>T;refseq.codingCoordStr_2=c.669C>T;refseq.codingCoordStr_3=c.651C>T;refseq.codingCoordStr_4=c.768C>T;refseq.codingCoordStr_5=c.744C>T;refseq.codingCoordStr_6=c.651C>T;refseq.codingCoordStr_7=c.651C>T;refseq.codonCoord_1=256;refseq.codonCoord_2=223;refseq.codonCoord_3=217;refseq.codonCoord_4=256;refseq.codonCoord_5=248;refseq.codonCoord_6=217;refseq.codonCoord_7=217;refseq.end_1=86609647;refseq.end_2=86609647;refseq.end_3=86609647;refseq.end_4=86609647;refseq.end_5=86609647;refseq.end_6=86609647;refseq.end_7=86609647;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=920;refseq.mrnaCoord_2=821;refseq.mrnaCoord_3=803;refseq.mrnaCoord_4=959;refseq.mrnaCoord_5=965;refseq.mrnaCoord_6=803;refseq.mrnaCoord_7=803;refseq.name2_1=BANP;refseq.name2_2=BANP;refseq.name2_3=BANP;refseq.name2_4=BANP;refseq.name2_5=BANP;refseq.name2_6=BANP;refseq.name2_7=BANP;refseq.name_1=NM_001173539;refseq.name_2=NM_001173540;refseq.name_3=NM_001173541;refseq.name_4=NM_001173542;refseq.name_5=NM_001173543;refseq.name_6=NM_017869;refseq.name_7=NM_079837;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A256A;refseq.proteinCoordStr_2=p.A223A;refseq.proteinCoordStr_3=p.A217A;refseq.proteinCoordStr_4=p.A256A;refseq.proteinCoordStr_5=p.A248A;refseq.proteinCoordStr_6=p.A217A;refseq.proteinCoordStr_7=p.A217A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.spliceDist_4=113;refseq.spliceDist_5=113;refseq.spliceDist_6=113;refseq.spliceDist_7=113;refseq.start_1=86609647;refseq.start_2=86609647;refseq.start_3=86609647;refseq.start_4=86609647;refseq.start_5=86609647;refseq.start_6=86609647;refseq.start_7=86609647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;refseq.variantCodon_5=GCT;refseq.variantCodon_6=GCT;refseq.variantCodon_7=GCT;set=Intersection GT 0/1 chr16 86609662 . C A 207.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=77.40;MQ0=2;OQ=2200.50;QD=36.68;RankSumP=1.00000;SB=-47.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_1=c.783C>A;refseq.codingCoordStr_2=c.684C>A;refseq.codingCoordStr_3=c.666C>A;refseq.codingCoordStr_4=c.783C>A;refseq.codingCoordStr_5=c.759C>A;refseq.codingCoordStr_6=c.666C>A;refseq.codingCoordStr_7=c.666C>A;refseq.codonCoord_1=261;refseq.codonCoord_2=228;refseq.codonCoord_3=222;refseq.codonCoord_4=261;refseq.codonCoord_5=253;refseq.codonCoord_6=222;refseq.codonCoord_7=222;refseq.end_1=86609662;refseq.end_2=86609662;refseq.end_3=86609662;refseq.end_4=86609662;refseq.end_5=86609662;refseq.end_6=86609662;refseq.end_7=86609662;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=935;refseq.mrnaCoord_2=836;refseq.mrnaCoord_3=818;refseq.mrnaCoord_4=974;refseq.mrnaCoord_5=980;refseq.mrnaCoord_6=818;refseq.mrnaCoord_7=818;refseq.name2_1=BANP;refseq.name2_2=BANP;refseq.name2_3=BANP;refseq.name2_4=BANP;refseq.name2_5=BANP;refseq.name2_6=BANP;refseq.name2_7=BANP;refseq.name_1=NM_001173539;refseq.name_2=NM_001173540;refseq.name_3=NM_001173541;refseq.name_4=NM_001173542;refseq.name_5=NM_001173543;refseq.name_6=NM_017869;refseq.name_7=NM_079837;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L261L;refseq.proteinCoordStr_2=p.L228L;refseq.proteinCoordStr_3=p.L222L;refseq.proteinCoordStr_4=p.L261L;refseq.proteinCoordStr_5=p.L253L;refseq.proteinCoordStr_6=p.L222L;refseq.proteinCoordStr_7=p.L222L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.referenceCodon_7=CTC;refseq.spliceDist_1=-113;refseq.spliceDist_2=-113;refseq.spliceDist_3=-113;refseq.spliceDist_4=-113;refseq.spliceDist_5=-113;refseq.spliceDist_6=-113;refseq.spliceDist_7=-113;refseq.start_1=86609662;refseq.start_2=86609662;refseq.start_3=86609662;refseq.start_4=86609662;refseq.start_5=86609662;refseq.start_6=86609662;refseq.start_7=86609662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;refseq.variantCodon_5=CTA;refseq.variantCodon_6=CTA;refseq.variantCodon_7=CTA;set=Intersection GT 1/1 chr16 86663226 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=94.76;MQ0=0;OQ=421.34;QD=11.39;RankSumP=0.458050;SB=-77.07;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.chr_7=chr16;refseq.codingCoordStr_1=c.1353G>A;refseq.codingCoordStr_2=c.1329G>A;refseq.codingCoordStr_3=c.1236G>A;refseq.codingCoordStr_4=c.1362G>A;refseq.codingCoordStr_5=c.1395G>A;refseq.codingCoordStr_6=c.1245G>A;refseq.codingCoordStr_7=c.1311G>A;refseq.codonCoord_1=451;refseq.codonCoord_2=443;refseq.codonCoord_3=412;refseq.codonCoord_4=454;refseq.codonCoord_5=465;refseq.codonCoord_6=415;refseq.codonCoord_7=437;refseq.end_1=86663226;refseq.end_2=86663226;refseq.end_3=86663226;refseq.end_4=86663226;refseq.end_5=86663226;refseq.end_6=86663226;refseq.end_7=86663226;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1505;refseq.mrnaCoord_2=1481;refseq.mrnaCoord_3=1388;refseq.mrnaCoord_4=1553;refseq.mrnaCoord_5=1616;refseq.mrnaCoord_6=1397;refseq.mrnaCoord_7=1463;refseq.name2_1=BANP;refseq.name2_2=BANP;refseq.name2_3=BANP;refseq.name2_4=BANP;refseq.name2_5=BANP;refseq.name2_6=BANP;refseq.name2_7=BANP;refseq.name_1=NM_001173539;refseq.name_2=NM_001173540;refseq.name_3=NM_001173541;refseq.name_4=NM_001173542;refseq.name_5=NM_001173543;refseq.name_6=NM_017869;refseq.name_7=NM_079837;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A451A;refseq.proteinCoordStr_2=p.A443A;refseq.proteinCoordStr_3=p.A412A;refseq.proteinCoordStr_4=p.A454A;refseq.proteinCoordStr_5=p.A465A;refseq.proteinCoordStr_6=p.A415A;refseq.proteinCoordStr_7=p.A437A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.spliceDist_5=51;refseq.spliceDist_6=51;refseq.spliceDist_7=51;refseq.start_1=86663226;refseq.start_2=86663226;refseq.start_3=86663226;refseq.start_4=86663226;refseq.start_5=86663226;refseq.start_6=86663226;refseq.start_7=86663226;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;refseq.variantCodon_7=GCA;set=Intersection GT 1/0 chr16 87079871 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=98.34;MQ0=0;OQ=648.74;QD=11.00;RankSumP=0.125014;SB=-196.52;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.64A>G;refseq.codonCoord=22;refseq.end=87079871;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=97;refseq.name=NM_153813;refseq.name2=ZFPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R22G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=24;refseq.start=87079871;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr16 87126587 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.287691;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1011G>A;refseq.codonCoord=337;refseq.end=87126587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1044;refseq.name=NM_153813;refseq.name2=ZFPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R337R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-32;refseq.start=87126587;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chr16 87127580 . C G 5 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=3;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=85.86;QD=28.62;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1713C>G;refseq.codonCoord=571;refseq.end=87127580;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_153813;refseq.name2=ZFPM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P571P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=524;refseq.start=87127580;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr16 87147696 . T G 388.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.82;MQ0=0;OQ=7514.41;QD=41.06;RankSumP=1.00000;SB=-3400.67;SecondBestBaseQ=0;set=Intersection GT 1/1 chr16 87147813 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=289.77;QD=8.28;RankSumP=0.305803;SB=-72.33;SecondBestBaseQ=33;set=Intersection GT 1/0 chr16 87147846 rs28424075 A C 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=93.57;QD=2.75;SB=-71.85;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:26,8:32:-22.28,-9.64,-94.95:99 chr16 87171506 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2504.55;QD=41.06;RankSumP=1.00000;SB=-789.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.474A>G;refseq.codonCoord=158;refseq.end=87171506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_144604;refseq.name2=ZC3H18;refseq.positionType=CDS;refseq.proteinCoordStr=p.K158K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-130;refseq.start=87171506;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr16 87217207 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1747T>C;refseq.codonCoord=583;refseq.end=87217207;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1947;refseq.name=NM_144604;refseq.name2=ZC3H18;refseq.positionType=CDS;refseq.proteinCoordStr=p.S583P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-47;refseq.start=87217207;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr16 87233831 . C T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=133.89;QD=8.37;RankSumP=0.523477;SB=-51.66;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.444C>T;refseq.codonCoord=148;refseq.end=87233831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_013278;refseq.name2=IL17C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S148S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=109;refseq.start=87233831;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr16 87240737 . A G 187.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=97.92;MQ0=0;OQ=1512.06;QD=14.54;RankSumP=0.00412789;SB=-375.26;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.214T>C;refseq.codonCoord=72;refseq.end=87240737;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_000101;refseq.name2=CYBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y72H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=11;refseq.start=87240737;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 0/1 chr16 87244887 . T C 272.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.53;MQ0=0;OQ=1189.86;QD=38.38;RankSumP=1.00000;SB=-622.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=87244887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_000101;refseq.name2=CYBA;refseq.positionType=CDS;refseq.proteinCoordStr=p.E12E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-23;refseq.start=87244887;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr16 87248640 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.974C>G;refseq.codonCoord=325;refseq.end=87248640;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_002461;refseq.name2=MVD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A325G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-40;refseq.start=87248640;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr16 87250159 . C G 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=2;RankSumP=0.0951892;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.458G>C;refseq.codonCoord=153;refseq.end=87250159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_002461;refseq.name2=MVD;refseq.positionType=CDS;refseq.proteinCoordStr=p.R153P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=87250159;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr16 87251848 . G T 140.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=14.53;MQ=97.53;MQ0=0;OQ=4202.45;QD=17.44;RankSumP=0.0739100;SB=-952.43;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.232C>A;refseq.codonCoord=78;refseq.end=87251848;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_002461;refseq.name2=MVD;refseq.positionType=CDS;refseq.proteinCoordStr=p.R78R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-25;refseq.start=87251848;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr16 87295270 . G C 116.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=99.00;MQ0=0;OQ=1870.22;QD=22.00;RankSumP=0.0583806;SB=-160.78;SecondBestBaseQ=29;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.-115C>G;refseq.codingCoordStr_3=c.213C>G;refseq.codonCoord_3=71;refseq.end_1=87300110;refseq.end_2=87295270;refseq.end_3=87295270;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=886;refseq.mrnaCoord_3=309;refseq.name2_1=RNF166;refseq.name2_2=RNF166;refseq.name2_3=RNF166;refseq.name_1=NM_001171815;refseq.name_2=NM_001171816;refseq.name_3=NM_178841;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L71L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTC;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=87293607;refseq.start_2=87295270;refseq.start_3=87295270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 0/1 chr16 87305588 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.327A>G;refseq.codingCoordStr_2=c.327A>G;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.end_1=87305588;refseq.end_2=87305588;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=375;refseq.mrnaCoord_2=375;refseq.name2_1=CTU2;refseq.name2_2=CTU2;refseq.name_1=NM_001012759;refseq.name_2=NM_001012762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G109G;refseq.proteinCoordStr_2=p.G109G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=87305588;refseq.start_2=87305588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr16 87306533 . G C 259.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=97.67;MQ0=0;OQ=2126.29;QD=16.11;RankSumP=0.0699772;SB=-855.96;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.456G>C;refseq.codingCoordStr_2=c.456G>C;refseq.codonCoord_1=152;refseq.codonCoord_2=152;refseq.end_1=87306533;refseq.end_2=87306533;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=504;refseq.name2_1=CTU2;refseq.name2_2=CTU2;refseq.name_1=NM_001012759;refseq.name_2=NM_001012762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V152V;refseq.proteinCoordStr_2=p.V152V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=87306533;refseq.start_2=87306533;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr16 87308626 . T C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=97.97;MQ0=0;OQ=122.58;QD=8.17;RankSumP=0.599223;SB=-46.67;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1332T>C;refseq.codingCoordStr_2=c.1332T>C;refseq.codonCoord_1=444;refseq.codonCoord_2=444;refseq.end_1=87308626;refseq.end_2=87308626;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1380;refseq.mrnaCoord_2=1380;refseq.name2_1=CTU2;refseq.name2_2=CTU2;refseq.name_1=NM_001012759;refseq.name_2=NM_001012762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C444C;refseq.proteinCoordStr_2=p.C444C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=87308626;refseq.start_2=87308626;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr16 87399646 . T C 231.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.45;MQ0=0;OQ=1566.43;QD=32.63;RankSumP=1.00000;SB=-728.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.700T>C;refseq.codonCoord=234;refseq.end=87399646;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_030928;refseq.name2=CDT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C234R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=14;refseq.start=87399646;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr16 87400012 . T C 203.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.70;MQ0=0;OQ=726.31;QD=18.16;RankSumP=0.303318;SB=-294.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.915T>C;refseq.codonCoord=305;refseq.end=87400012;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_030928;refseq.name2=CDT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H305H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-19;refseq.start=87400012;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr16 87405549 . G A 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.60;MQ0=0;OQ=201.04;QD=6.93;RankSumP=0.429515;SB=-89.30;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.97C>T;refseq.codingCoordStr_2=c.97C>T;refseq.codonCoord_1=33;refseq.codonCoord_2=33;refseq.end_1=87405549;refseq.end_2=87405549;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=132;refseq.mrnaCoord_2=132;refseq.name2_1=APRT;refseq.name2_2=APRT;refseq.name_1=NM_000485;refseq.name_2=NM_001030018;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L33L;refseq.proteinCoordStr_2=p.L33L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=87405549;refseq.start_2=87405549;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr16 87486382 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=1;RankSumP=0.00000;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.392G>C;refseq.codingCoordStr_2=c.134G>C;refseq.codonCoord_1=131;refseq.codonCoord_2=45;refseq.end_1=87486382;refseq.end_2=87486382;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=578;refseq.mrnaCoord_2=347;refseq.name2_1=CBFA2T3;refseq.name2_2=CBFA2T3;refseq.name_1=NM_005187;refseq.name_2=NM_175931;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S131T;refseq.proteinCoordStr_2=p.S45T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=87486382;refseq.start_2=87486382;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr16 87694595 . T C 177.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.32;MQ0=0;OQ=717.68;QD=35.88;RankSumP=1.00000;SB=-82.92;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.5T>C;refseq.codingCoordStr_3=c.5T>C;refseq.codonCoord_2=2;refseq.codonCoord_3=2;refseq.end_1=87696502;refseq.end_2=87694595;refseq.end_3=87694595;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=176;refseq.mrnaCoord_3=345;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L2P;refseq.proteinCoordStr_3=p.L2P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_2=25;refseq.spliceDist_3=25;refseq.start_1=87687912;refseq.start_2=87694595;refseq.start_3=87694595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=filterInsoap-gatk GT 1/1 chr16 87694639 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=5.90;MQ=95.15;MQ0=0;OQ=1448.85;QD=20.12;RankSumP=0.535675;SB=-664.72;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.49G>C;refseq.codingCoordStr_3=c.49G>C;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.end_1=87696502;refseq.end_2=87694639;refseq.end_3=87694639;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=220;refseq.mrnaCoord_3=389;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A17P;refseq.proteinCoordStr_3=p.A17P;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=87687912;refseq.start_2=87694639;refseq.start_3=87694639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr16 87694641 . G C 257.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=95.18;MQ0=0;OQ=2879.17;QD=40.55;RankSumP=1.00000;SB=-1122.23;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.51G>C;refseq.codingCoordStr_3=c.51G>C;refseq.codonCoord_2=17;refseq.codonCoord_3=17;refseq.end_1=87696502;refseq.end_2=87694641;refseq.end_3=87694641;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=222;refseq.mrnaCoord_3=391;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A17A;refseq.proteinCoordStr_3=p.A17A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.start_1=87687912;refseq.start_2=87694641;refseq.start_3=87694641;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr16 87694896 . C T 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=89.11;MQ0=0;OQ=2029.52;QD=28.58;RankSumP=1.00000;SB=-477.63;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.306C>T;refseq.codingCoordStr_3=c.306C>T;refseq.codonCoord_2=102;refseq.codonCoord_3=102;refseq.end_1=87696502;refseq.end_2=87694896;refseq.end_3=87694896;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=477;refseq.mrnaCoord_3=646;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C102C;refseq.proteinCoordStr_3=p.C102C;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_2=326;refseq.spliceDist_3=326;refseq.start_1=87687912;refseq.start_2=87694896;refseq.start_3=87694896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;set=Intersection GT 1/1 chr16 87694905 . T C 42.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=86.30;MQ0=0;OQ=2005.08;QD=28.64;RankSumP=1.00000;SB=-552.56;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.315T>C;refseq.codingCoordStr_3=c.315T>C;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.end_1=87696502;refseq.end_2=87694905;refseq.end_3=87694905;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=486;refseq.mrnaCoord_3=655;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D105D;refseq.proteinCoordStr_3=p.D105D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_2=335;refseq.spliceDist_3=335;refseq.start_1=87687912;refseq.start_2=87694905;refseq.start_3=87694905;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr16 87694932 . G C 38.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.51;MQ0=0;OQ=3190.78;QD=47.62;RankSumP=1.00000;SB=-1273.63;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.342G>C;refseq.codingCoordStr_3=c.342G>C;refseq.codonCoord_2=114;refseq.codonCoord_3=114;refseq.end_1=87696502;refseq.end_2=87694932;refseq.end_3=87694932;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=513;refseq.mrnaCoord_3=682;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A114A;refseq.proteinCoordStr_3=p.A114A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=-325;refseq.spliceDist_3=-325;refseq.start_1=87687912;refseq.start_2=87694932;refseq.start_3=87694932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=filterInsoap-gatk GT 1/1 chr16 87694944 . T C 227.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=86.48;MQ0=0;OQ=2258.51;QD=34.75;RankSumP=1.00000;SB=-1050.76;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.354T>C;refseq.codingCoordStr_3=c.354T>C;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=87696502;refseq.end_2=87694944;refseq.end_3=87694944;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=525;refseq.mrnaCoord_3=694;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S118S;refseq.proteinCoordStr_3=p.S118S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_2=-313;refseq.spliceDist_3=-313;refseq.start_1=87687912;refseq.start_2=87694944;refseq.start_3=87694944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr16 87694959 . C A 55.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=89.73;MQ0=0;OQ=1538.91;QD=24.43;RankSumP=1.00000;SB=-524.41;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.369C>A;refseq.codingCoordStr_3=c.369C>A;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.end_1=87696502;refseq.end_2=87694959;refseq.end_3=87694959;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=540;refseq.mrnaCoord_3=709;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V123V;refseq.proteinCoordStr_3=p.V123V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_2=-298;refseq.spliceDist_3=-298;refseq.start_1=87687912;refseq.start_2=87694959;refseq.start_3=87694959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chr16 87708384 . G A 318.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=97.86;MQ0=0;OQ=2021.67;QD=18.89;RankSumP=0.358454;SB=-962.39;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.1114G>A;refseq.codingCoordStr_3=c.1114G>A;refseq.codonCoord_2=372;refseq.codonCoord_3=372;refseq.end_1=87708384;refseq.end_2=87708384;refseq.end_3=87708384;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=595;refseq.mrnaCoord_2=1285;refseq.mrnaCoord_3=1454;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V372M;refseq.proteinCoordStr_3=p.V372M;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=87708384;refseq.start_2=87708384;refseq.start_3=87708384;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr16 87739856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_2=c.1511T>G;refseq.codingCoordStr_3=c.1511T>G;refseq.codonCoord_2=504;refseq.codonCoord_3=504;refseq.end_1=87739856;refseq.end_2=87739856;refseq.end_3=87739856;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=992;refseq.mrnaCoord_2=1682;refseq.mrnaCoord_3=1851;refseq.name2_1=ACSF3;refseq.name2_2=ACSF3;refseq.name2_3=ACSF3;refseq.name_1=NR_023316;refseq.name_2=NM_001127214;refseq.name_3=NM_174917;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V504G;refseq.proteinCoordStr_3=p.V504G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=87739856;refseq.start_2=87739856;refseq.start_3=87739856;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr16 87773456 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=99.00;MQ0=0;OQ=920.56;QD=11.80;RankSumP=0.213210;SB=-375.81;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.174C>T;refseq.codonCoord=58;refseq.end=87773456;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_004933;refseq.name2=CDH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.H58H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-28;refseq.start=87773456;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr16 87774171 . T C 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=97.40;MQ0=0;OQ=118.71;QD=7.42;RankSumP=0.521104;SB=-37.93;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=87774171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_004933;refseq.name2=CDH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.D88D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=63;refseq.start=87774171;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr16 87786248 . A C 36.26 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=6.04;RankSumP=0.714286;SB=-7.00;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1750A>C;refseq.codonCoord=584;refseq.end=87786248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1827;refseq.name=NM_004933;refseq.name2=CDH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.K584Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-106;refseq.start=87786248;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 0/1 chr16 87787494 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.49;MQ0=0;OQ=1673.54;QD=37.19;RankSumP=1.00000;SB=-215.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1971A>G;refseq.codonCoord=657;refseq.end=87787494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2048;refseq.name=NM_004933;refseq.name2=CDH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q657Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-22;refseq.start=87787494;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr16 87788983 . C A 78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=94.57;MQ0=0;OQ=153.46;QD=7.67;RankSumP=0.221071;SB=-66.85;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2364C>A;refseq.codonCoord=788;refseq.end=87788983;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2441;refseq.name=NM_004933;refseq.name2=CDH15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y788*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=213;refseq.start=87788983;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=Intersection GT 1/0 chr16 87873664 . G A 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.50;MQ0=0;OQ=81.91;QD=16.38;RankSumP=0.100000;SB=-48.66;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6787C>T;refseq.codonCoord=2263;refseq.end=87873664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7248;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2263S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-684;refseq.start=87873664;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr16 87874384 . C G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=19;Dels=0.00;HRun=4;HaplotypeScore=1.89;MQ=95.07;MQ0=0;OQ=499.90;QD=26.31;RankSumP=0.0423117;SB=-232.54;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.6067G>C;refseq.codonCoord=2023;refseq.end=87874384;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6528;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2023P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1404;refseq.start=87874384;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr16 87875519 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.54;MQ0=0;OQ=616.22;QD=17.12;RankSumP=0.704123;SB=-310.25;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.4932G>A;refseq.codonCoord=1644;refseq.end=87875519;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5393;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1644G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-2539;refseq.start=87875519;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr16 87876629 . G A 199.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.57;MQ0=0;OQ=2339.81;QD=18.57;RankSumP=0.249294;SB=-1132.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3822C>T;refseq.codonCoord=1274;refseq.end=87876629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4283;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1274A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=2930;refseq.start=87876629;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr16 87876878 . G C 115.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=8.77;MQ=98.52;MQ0=0;OQ=5628.81;QD=18.89;RankSumP=0.341634;SB=-2345.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.3573C>G;refseq.codonCoord=1191;refseq.end=87876878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4034;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1191A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=2681;refseq.start=87876878;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr16 87877539 . G A 326.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=98.75;MQ0=0;OQ=7319.73;QD=18.12;RankSumP=0.397988;SB=-2891.25;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2912C>T;refseq.codonCoord=971;refseq.end=87877539;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3373;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A971V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=2020;refseq.start=87877539;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr16 87877679 . G A 410.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.81;MQ0=0;OQ=3987.15;QD=42.87;RankSumP=1.00000;SB=-1510.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.2772C>T;refseq.codonCoord=924;refseq.end=87877679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3233;refseq.name=NM_013275;refseq.name2=ANKRD11;refseq.positionType=CDS;refseq.proteinCoordStr=p.T924T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1880;refseq.start=87877679;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr16 88155574 . G A 185.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=73.09;MQ0=10;OQ=2922.51;QD=15.14;RankSumP=0.493299;SB=-1283.74;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.334G>A;refseq.codingCoordStr_2=c.334G>A;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.end_1=88155574;refseq.end_2=88155574;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=385;refseq.mrnaCoord_2=571;refseq.name2_1=RPL13;refseq.name2_2=RPL13;refseq.name_1=NM_000977;refseq.name_2=NM_033251;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A112T;refseq.proteinCoordStr_2=p.A112T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=88155574;refseq.start_2=88155574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr16 88171502 . T C 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=142.47;QD=12.95;RankSumP=0.206349;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.229T>C;refseq.codingCoordStr_2=c.229T>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=88171502;refseq.end_2=88171502;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=359;refseq.mrnaCoord_2=359;refseq.name2_1=CPNE7;refseq.name2_2=CPNE7;refseq.name_1=NM_014427;refseq.name_2=NM_153636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F77L;refseq.proteinCoordStr_2=p.F77L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=88171502;refseq.start_2=88171502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr16 88189308 . C T 269.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=11.43;MQ=98.57;MQ0=0;OQ=4759.09;QD=15.35;RankSumP=0.211650;SB=-1974.90;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1560C>T;refseq.codingCoordStr_2=c.1335C>T;refseq.codonCoord_1=520;refseq.codonCoord_2=445;refseq.end_1=88189308;refseq.end_2=88189308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1690;refseq.mrnaCoord_2=1465;refseq.name2_1=CPNE7;refseq.name2_2=CPNE7;refseq.name_1=NM_014427;refseq.name_2=NM_153636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G520G;refseq.proteinCoordStr_2=p.G445G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=88189308;refseq.start_2=88189308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr16 88190491 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=98.89;MQ0=0;OQ=1296.90;QD=11.18;RankSumP=0.120991;SB=-171.29;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1863T>C;refseq.codingCoordStr_2=c.1638T>C;refseq.codonCoord_1=621;refseq.codonCoord_2=546;refseq.end_1=88190491;refseq.end_2=88190491;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1993;refseq.mrnaCoord_2=1768;refseq.name2_1=CPNE7;refseq.name2_2=CPNE7;refseq.name_1=NM_014427;refseq.name_2=NM_153636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G621G;refseq.proteinCoordStr_2=p.G546G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.start_1=88190491;refseq.start_2=88190491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/0 chr16 88230496 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=4.71955e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.425G>C;refseq.codingCoordStr_2=c.425G>C;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.end_1=88230496;refseq.end_2=88230496;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=716;refseq.name2_1=DPEP1;refseq.name2_2=DPEP1;refseq.name_1=NM_001128141;refseq.name_2=NM_004413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G142A;refseq.proteinCoordStr_2=p.G142A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=88230496;refseq.start_2=88230496;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr16 88231866 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=782.57;QD=19.09;RankSumP=0.712764;SB=-247.65;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.1051G>C;refseq.codingCoordStr_2=c.1051G>C;refseq.codonCoord_1=351;refseq.codonCoord_2=351;refseq.end_1=88231866;refseq.end_2=88231866;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1254;refseq.mrnaCoord_2=1342;refseq.name2_1=DPEP1;refseq.name2_2=DPEP1;refseq.name_1=NM_001128141;refseq.name_2=NM_004413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E351Q;refseq.proteinCoordStr_2=p.E351Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=88231866;refseq.start_2=88231866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr16 88288924 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=6.60699e-09;SecondBestBaseQ=9;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.chr_5=chr16;refseq.chr_6=chr16;refseq.codingCoordStr_3=c.664T>G;refseq.codingCoordStr_4=c.664T>G;refseq.codingCoordStr_5=c.664T>G;refseq.codingCoordStr_6=c.877T>G;refseq.codonCoord_3=222;refseq.codonCoord_4=222;refseq.codonCoord_5=222;refseq.codonCoord_6=293;refseq.end_1=88288924;refseq.end_2=88288924;refseq.end_3=88288924;refseq.end_4=88288924;refseq.end_5=88288924;refseq.end_6=88288924;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=847;refseq.mrnaCoord_2=847;refseq.mrnaCoord_3=882;refseq.mrnaCoord_4=882;refseq.mrnaCoord_5=882;refseq.mrnaCoord_6=920;refseq.name2_1=CDK10;refseq.name2_2=CDK10;refseq.name2_3=CDK10;refseq.name2_4=CDK10;refseq.name2_5=CDK10;refseq.name2_6=CDK10;refseq.name_1=NR_027702;refseq.name_2=NR_027703;refseq.name_3=NM_001098533;refseq.name_4=NM_001160367;refseq.name_5=NM_052987;refseq.name_6=NM_052988;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.S222A;refseq.proteinCoordStr_4=p.S222A;refseq.proteinCoordStr_5=p.S222A;refseq.proteinCoordStr_6=p.S293A;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-38;refseq.spliceDist_4=-56;refseq.spliceDist_5=-56;refseq.spliceDist_6=-56;refseq.start_1=88288924;refseq.start_2=88288924;refseq.start_3=88288924;refseq.start_4=88288924;refseq.start_5=88288924;refseq.start_6=88288924;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;refseq.variantCodon_6=GCG;set=FilteredInAll GT 1/0 chr16 88291543 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=48;Dels=0.00;HRun=4;HaplotypeScore=1.34;MQ=97.67;MQ0=0;OQ=218.28;QD=4.55;RankSumP=0.348092;SB=5.05;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.975T>C;refseq.codonCoord=325;refseq.end=88291543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_152339;refseq.name2=SPATA2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P325P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=672;refseq.start=88291543;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr16 88305262 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=3.73;MQ=98.44;MQ0=0;OQ=1344.97;QD=13.59;RankSumP=0.123428;SB=-649.66;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.807G>A;refseq.codonCoord=269;refseq.end=88305262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_004913;refseq.name2=C16orf7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V269V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-27;refseq.start=88305262;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr16 88310490 . A G 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=41;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1488.38;QD=36.30;RankSumP=1.00000;SB=-321.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.312T>C;refseq.codonCoord=104;refseq.end=88310490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_004913;refseq.name2=C16orf7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I104I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=44;refseq.start=88310490;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr16 88310688 . C T 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.86;MQ0=0;OQ=1529.37;QD=36.41;RankSumP=1.00000;SB=-497.16;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.219G>A;refseq.codonCoord=73;refseq.end=88310688;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=344;refseq.name=NM_004913;refseq.name2=C16orf7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K73K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=44;refseq.start=88310688;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr16 88317399 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.88;MQ0=0;OQ=589.26;QD=10.91;RankSumP=0.745257;SB=-62.29;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.787T>C;refseq.codingCoordStr_2=c.562T>C;refseq.codonCoord_1=263;refseq.codonCoord_2=188;refseq.end_1=88317399;refseq.end_2=88317399;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=884;refseq.mrnaCoord_2=874;refseq.name2_1=ZNF276;refseq.name2_2=ZNF276;refseq.name_1=NM_001113525;refseq.name_2=NM_152287;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W263R;refseq.proteinCoordStr_2=p.W188R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-220;refseq.spliceDist_2=-220;refseq.start_1=88317399;refseq.start_2=88317399;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr16 88332125 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=420.50;QD=15.02;RankSumP=0.641764;SB=-53.46;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_1=c.*385C>G;refseq.codingCoordStr_2=c.1815G>C;refseq.codingCoordStr_3=c.1590G>C;refseq.codonCoord_2=605;refseq.codonCoord_3=530;refseq.end_1=88332125;refseq.end_2=88332125;refseq.end_3=88332125;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4795;refseq.mrnaCoord_2=1912;refseq.mrnaCoord_3=1902;refseq.name2_1=FANCA;refseq.name2_2=ZNF276;refseq.name2_3=ZNF276;refseq.name_1=NM_000135;refseq.name_2=NM_001113525;refseq.name_3=NM_152287;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E605D;refseq.proteinCoordStr_3=p.E530D;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=493;refseq.spliceDist_2=241;refseq.spliceDist_3=241;refseq.start_1=88332125;refseq.start_2=88332125;refseq.start_3=88332125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 0/1 chr16 88363824 . C T 177.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=1475.33;QD=15.69;RankSumP=0.436911;SB=-282.76;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.2426G>A;refseq.codonCoord=809;refseq.end=88363824;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2468;refseq.name=NM_000135;refseq.name2=FANCA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G809D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-79;refseq.start=88363824;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr16 88376981 . C T 412.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.48;MQ0=0;OQ=9454.62;QD=42.21;RankSumP=1.00000;SB=-3401.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.1501G>A;refseq.codonCoord=501;refseq.end=88376981;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_000135;refseq.name2=FANCA;refseq.positionType=CDS;refseq.proteinCoordStr=p.G501S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=31;refseq.start=88376981;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr16 88393544 . T C 206.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.74;MQ0=0;OQ=2194.19;QD=14.25;RankSumP=0.0917152;SB=-957.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_1=c.796A>G;refseq.codingCoordStr_2=c.796A>G;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.end_1=88393544;refseq.end_2=88393544;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=838;refseq.mrnaCoord_2=838;refseq.name2_1=FANCA;refseq.name2_2=FANCA;refseq.name_1=NM_000135;refseq.name_2=NM_001018112;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T266A;refseq.proteinCoordStr_2=p.T266A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=88393544;refseq.start_2=88393544;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr16 88422595 . C G 12.64 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=0.74;SB=-27.37;refseq.changesAA=true;refseq.chr=chr16;refseq.codingCoordStr=c.136C>G;refseq.codonCoord=46;refseq.end=88422595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_032451;refseq.name2=SPIRE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q46E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-109;refseq.start=88422595;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,2:16:-9.34,-4.82,-66.57:45.23 chr16 88505021 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr16;refseq.codingCoordStr=c.1905T>G;refseq.codonCoord=635;refseq.end=88505021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1987;refseq.name=NM_014972;refseq.name2=TCF25;refseq.positionType=CDS;refseq.proteinCoordStr=p.G635G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=33;refseq.start=88505021;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr16 88622985 rs3785184 C T 39.24 LowQual AC=1;AF=0.50;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=9.81;SB=-10.00;refseq.changesAA_3=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.267G>A;refseq.codonCoord_3=89;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88622985;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=826;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.T89T;refseq.referenceAA_3=Thr;refseq.referenceCodon_3=ACG;refseq.spliceDist_3=-169;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88622985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2,2:3:-8.11,-0.90,-4.17:32.65 chr16 88623059 . C T 0.23 PASS AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.65;MQ0=0;OQ=161.36;QD=10.08;SB=-10.00;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.193G>A;refseq.codonCoord_3=65;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623059;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=752;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G65S;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGC;refseq.spliceDist_3=-243;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=AGC;set=gatk GT:AD:DP:GL:GQ 0/1:10,6:15:-23.94,-4.52,-32.72:99 chr16 88623074 . C T 13.54 PASS AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=94.14;MQ0=0;OQ=560.34;QD=18.68;SB=-7.00;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.178G>A;refseq.codonCoord_3=60;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623074;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=737;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V60I;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTA;refseq.spliceDist_3=-258;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623074;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ile;refseq.variantCodon_3=ATA;set=gatk GT:AD:DP:GL:GQ 0/1:11,19:26:-67.15,-7.83,-31.85:99 chr16 88623083 rs62640380 T C 3.82 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=94.29;MQ0=0;OQ=788.79;QD=21.91;SB=-78.89;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.169A>G;refseq.codonCoord_3=57;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623083;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=728;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S57G;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=AGC;refseq.spliceDist_3=-267;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Gly;refseq.variantCodon_3=GGC;set=gatk GT:AD:DP:GL:GQ 0/1:9,27:32:-91.80,-9.64,-30.36:99 chr16 88623097 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=94.53;MQ0=0;OQ=1354.23;QD=29.44;RankSumP=0.0463051;SB=-156.69;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.155T>C;refseq.codonCoord_3=52;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623097;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=714;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.I52T;refseq.referenceAA_3=Ile;refseq.referenceCodon_3=ATA;refseq.spliceDist_3=-281;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623097;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr16 88623098 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=12.08;MQ=94.63;MQ0=0;OQ=1247.12;QD=26.53;RankSumP=0.559706;SB=-139.79;SecondBestBaseQ=29;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.154A>G;refseq.codonCoord_3=52;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623098;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=713;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.I52V;refseq.referenceAA_3=Ile;refseq.referenceCodon_3=ATA;refseq.spliceDist_3=-282;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr16 88623121 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=1.62560e-05;SecondBestBaseQ=19;refseq.changesAA_3=true;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.codingCoordStr_3=c.131T>C;refseq.codonCoord_3=44;refseq.end_1=88625088;refseq.end_2=88625197;refseq.end_3=88623121;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=690;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name2_3=C16orf3;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.name_3=NM_001214;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V44A;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTA;refseq.spliceDist_3=-305;refseq.start_1=88621642;refseq.start_2=88621642;refseq.start_3=88623121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCA;set=FilteredInAll GT 0/1 chr16 88625249 . C T 275.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=98.07;MQ0=0;OQ=1662.56;QD=16.30;RankSumP=0.479018;SB=-824.86;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.codingCoordStr_2=c.132C>T;refseq.codonCoord_2=44;refseq.end_1=88625249;refseq.end_2=88625249;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=363;refseq.mrnaCoord_2=254;refseq.name2_1=GAS8;refseq.name2_2=GAS8;refseq.name_1=NR_023348;refseq.name_2=NM_001481;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R44R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=151;refseq.spliceDist_2=42;refseq.start_1=88625249;refseq.start_2=88625249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr16 88637212 . A G 200.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=96.30;MQ0=0;OQ=3340.08;QD=33.07;RankSumP=1.00000;SB=-751.17;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr16;refseq.chr_2=chr16;refseq.chr_3=chr16;refseq.chr_4=chr16;refseq.codingCoordStr_4=c.1395A>G;refseq.codonCoord_4=465;refseq.end_1=88637546;refseq.end_2=88637212;refseq.end_3=88637212;refseq.end_4=88637212;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1626;refseq.mrnaCoord_3=980;refseq.mrnaCoord_4=1517;refseq.name2_1=LOC100130015;refseq.name2_2=GAS8;refseq.name2_3=LOC100130015;refseq.name2_4=GAS8;refseq.name_1=NR_027335;refseq.name_2=NR_023348;refseq.name_3=NR_027336;refseq.name_4=NM_001481;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.T465T;refseq.referenceAA_4=Thr;refseq.referenceCodon_4=ACA;refseq.spliceDist_2=108;refseq.spliceDist_3=-402;refseq.spliceDist_4=108;refseq.start_1=88634337;refseq.start_2=88637212;refseq.start_3=88637212;refseq.start_4=88637212;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACG;set=Intersection GT 1/1 chr17 131585 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.412T>G;refseq.codonCoord=138;refseq.end=131585;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_006987;refseq.name2=RPH3AL;refseq.positionType=CDS;refseq.proteinCoordStr=p.C138G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-27;refseq.start=131585;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr17 260458 . T G 98.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=229.95;QD=32.85;RankSumP=1.00000;SB=-139.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=260458;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=25;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=25;refseq.start=260458;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 1/1 chr17 260498 . C T 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=167.41;QD=27.90;RankSumP=1.00000;SB=-93.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.49C>T;refseq.codonCoord=17;refseq.end=260498;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=65;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.L17L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=65;refseq.start=260498;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=filterInsoap-gatk GT 1/1 chr17 263602 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=91.46;MQ0=4;OQ=1839.85;QD=30.66;RankSumP=1.00000;SB=-445.11;SecondBestBaseQ=0;refseq.chr=chr17;refseq.codingCoordStr=c.651+1;refseq.end=263602;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=263602;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr17 263610 . G C 103.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=88.80;MQ0=6;OQ=1734.88;QD=33.36;RankSumP=0.412698;SB=-483.13;SecondBestBaseQ=34;refseq.chr=chr17;refseq.codingCoordStr=c.651+9;refseq.end=263610;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=intron;refseq.spliceDist=9;refseq.spliceInfo=splice-donor_9;refseq.start=263610;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 0/1 chr17 263631 . T C 0.01 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;HRun=3;HaplotypeScore=2.38;MQ=59.12;MQ0=15;OQ=196.60;QD=7.86;SB=-48.69;refseq.chr=chr17;refseq.codingCoordStr=c.652-1;refseq.end=263631;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=263631;refseq.transcriptStrand=+;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,25:7:-23.25,-2.11,-0.01:21.05 chr17 263733 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=180;Dels=0.00;HRun=0;HaplotypeScore=52.08;MQ=35.59;MQ0=51;OQ=2743.91;QD=15.24;RankSumP=1.00000;SB=-402.63;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.753C>T;refseq.codonCoord=251;refseq.end=263733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.A251A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=102;refseq.start=263733;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr17 263821 . A G 99.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=7.86;MQ=65.97;MQ0=8;OQ=6611.36;QD=34.61;RankSumP=1.00000;SB=-2957.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.841A>G;refseq.codonCoord=281;refseq.end=263821;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_001013672;refseq.name2=C17orf97;refseq.positionType=CDS;refseq.proteinCoordStr=p.T281A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=190;refseq.start=263821;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 587846 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=16;DP=693;Dels=0.00;HRun=2;HaplotypeScore=53.55;MQ=98.58;MQ0=0;OQ=2782.95;QD=4.02;RankSumP=0.00000;SB=775.62;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.217G>T;refseq.codonCoord=73;refseq.end=587846;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_024792;refseq.name2=FAM57A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A73S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=11;refseq.start=587846;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr17 632502 . G A 122.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=97.51;MQ0=0;OQ=1024.18;QD=16.00;RankSumP=0.246322;SB=-480.44;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.134G>A;refseq.codonCoord=45;refseq.end=632502;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_018146;refseq.name2=RNMTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G45E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-181;refseq.start=632502;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr17 669439 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=104;Dels=0.00;HRun=0;HaplotypeScore=6.52;MQ=98.59;MQ0=0;OQ=1660.87;QD=15.97;RankSumP=0.383536;SB=-67.07;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.810C>T;refseq.codonCoord=270;refseq.end=669439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_022463;refseq.name2=NXN;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y270Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-11;refseq.start=669439;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr17 917163 . C T 107.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.41;MQ0=0;OQ=1157.25;QD=14.11;RankSumP=0.0149265;SB=-530.48;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.975G>A;refseq.codingCoordStr_2=c.948G>A;refseq.codingCoordStr_3=c.1086G>A;refseq.codonCoord_1=325;refseq.codonCoord_2=316;refseq.codonCoord_3=362;refseq.end_1=917163;refseq.end_2=917163;refseq.end_3=917163;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=991;refseq.mrnaCoord_2=1548;refseq.mrnaCoord_3=1196;refseq.name2_1=ABR;refseq.name2_2=ABR;refseq.name2_3=ABR;refseq.name_1=NM_001092;refseq.name_2=NM_001159746;refseq.name_3=NM_021962;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E325E;refseq.proteinCoordStr_2=p.E316E;refseq.proteinCoordStr_3=p.E362E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.spliceDist_3=70;refseq.start_1=917163;refseq.start_2=917163;refseq.start_3=917163;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 0/1 chr17 1130104 . T C 86.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=2;HaplotypeScore=6.17;MQ=98.49;MQ0=0;OQ=4228.64;QD=39.52;RankSumP=1.00000;SB=-1449.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.59T>C;refseq.codonCoord=20;refseq.end=1130104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_172367;refseq.name2=TUSC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F20S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-329;refseq.start=1130104;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 1130214 . A G 264.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.38;MQ0=0;OQ=4538.79;QD=36.60;RankSumP=1.00000;SB=-1707.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.169A>G;refseq.codonCoord=57;refseq.end=1130214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_172367;refseq.name2=TUSC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-219;refseq.start=1130214;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 1130362 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=428;Dels=0.00;HRun=2;HaplotypeScore=15.16;MQ=98.80;MQ0=0;OQ=7617.63;QD=17.80;RankSumP=0.0131317;SB=-1929.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.317T>C;refseq.codonCoord=106;refseq.end=1130362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=656;refseq.name=NM_172367;refseq.name2=TUSC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I106T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-71;refseq.start=1130362;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr17 1306113 . T G 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=95.83;MQ0=0;OQ=1760.12;QD=28.85;RankSumP=1.00000;SB=-366.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.49A>C;refseq.codingCoordStr_2=c.49A>C;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=1306113;refseq.end_2=1306113;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=182;refseq.mrnaCoord_2=182;refseq.name2_1=CRK;refseq.name2_2=CRK;refseq.name_1=NM_005206;refseq.name_2=NM_016823;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R17R;refseq.proteinCoordStr_2=p.R17R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=182;refseq.spliceDist_2=182;refseq.start_1=1306113;refseq.start_2=1306113;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr17 1320268 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.42;MQ=98.78;MQ0=0;OQ=1538.70;QD=32.06;RankSumP=1.00000;SB=-533.88;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.2477A>G;refseq.codingCoordStr_2=c.2420A>G;refseq.codingCoordStr_3=c.2372A>G;refseq.codonCoord_1=826;refseq.codonCoord_2=807;refseq.codonCoord_3=791;refseq.end_1=1320268;refseq.end_2=1320268;refseq.end_3=1320268;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2697;refseq.mrnaCoord_2=2466;refseq.mrnaCoord_3=2481;refseq.name2_1=MYO1C;refseq.name2_2=MYO1C;refseq.name2_3=MYO1C;refseq.name_1=NM_001080779;refseq.name_2=NM_001080950;refseq.name_3=NM_033375;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q826R;refseq.proteinCoordStr_2=p.Q807R;refseq.proteinCoordStr_3=p.Q791R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.start_1=1320268;refseq.start_2=1320268;refseq.start_3=1320268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr17 1320362 . C T 120.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=168.64;QD=33.73;RankSumP=1.00000;SB=-48.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.2383G>A;refseq.codingCoordStr_2=c.2326G>A;refseq.codingCoordStr_3=c.2278G>A;refseq.codonCoord_1=795;refseq.codonCoord_2=776;refseq.codonCoord_3=760;refseq.end_1=1320362;refseq.end_2=1320362;refseq.end_3=1320362;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2603;refseq.mrnaCoord_2=2372;refseq.mrnaCoord_3=2387;refseq.name2_1=MYO1C;refseq.name2_2=MYO1C;refseq.name2_3=MYO1C;refseq.name_1=NM_001080779;refseq.name_2=NM_001080950;refseq.name_3=NM_033375;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V795I;refseq.proteinCoordStr_2=p.V776I;refseq.proteinCoordStr_3=p.V760I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=1320362;refseq.start_2=1320362;refseq.start_3=1320362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=filterInsoap-gatk GT 1/1 chr17 1330816 . A G 170.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=3373.66;QD=34.43;RankSumP=1.00000;SB=-341.77;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.741T>C;refseq.codingCoordStr_2=c.684T>C;refseq.codingCoordStr_3=c.636T>C;refseq.codonCoord_1=247;refseq.codonCoord_2=228;refseq.codonCoord_3=212;refseq.end_1=1330816;refseq.end_2=1330816;refseq.end_3=1330816;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=961;refseq.mrnaCoord_2=730;refseq.mrnaCoord_3=745;refseq.name2_1=MYO1C;refseq.name2_2=MYO1C;refseq.name2_3=MYO1C;refseq.name_1=NM_001080779;refseq.name_2=NM_001080950;refseq.name_3=NM_033375;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G247G;refseq.proteinCoordStr_2=p.G228G;refseq.proteinCoordStr_3=p.G212G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.start_1=1330816;refseq.start_2=1330816;refseq.start_3=1330816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr17 1359353 . G T 29.98 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=236;Dels=0.00;HRun=1;HaplotypeScore=11.66;MQ=97.91;MQ0=0;QD=0.13;RankSumP=0.00000;SB=368.29;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.195C>A;refseq.codingCoordStr_2=c.423C>A;refseq.codingCoordStr_3=c.195C>A;refseq.codonCoord_1=65;refseq.codonCoord_2=141;refseq.codonCoord_3=65;refseq.end_1=1359353;refseq.end_2=1359353;refseq.end_3=1359353;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1202;refseq.mrnaCoord_2=812;refseq.mrnaCoord_3=1043;refseq.name2_1=INPP5K;refseq.name2_2=INPP5K;refseq.name2_3=INPP5K;refseq.name_1=NM_001135642;refseq.name_2=NM_016532;refseq.name_3=NM_130766;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y65*;refseq.proteinCoordStr_2=p.Y141*;refseq.proteinCoordStr_3=p.Y65*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=1359353;refseq.start_2=1359353;refseq.start_3=1359353;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 0/1 chr17 1433261 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1337A>C;refseq.codonCoord=446;refseq.end=1433261;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1426;refseq.name=NM_152346;refseq.name2=SLC43A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N446T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-14;refseq.start=1433261;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 1441317 . G A 139.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=7.53;MQ=98.38;MQ0=0;OQ=2391.74;QD=14.95;RankSumP=0.311067;SB=-685.19;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.927C>T;refseq.codonCoord=309;refseq.end=1441317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_152346;refseq.name2=SLC43A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A309A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=1441317;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr17 1484923 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_3=c.2372A>G;refseq.codingCoordStr_4=c.*625A>G;refseq.codingCoordStr_5=c.2114A>G;refseq.codonCoord_3=791;refseq.codonCoord_5=705;refseq.end_1=1484923;refseq.end_2=1484923;refseq.end_3=1484923;refseq.end_4=1484923;refseq.end_5=1484923;refseq.frame_3=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2352;refseq.mrnaCoord_2=2829;refseq.mrnaCoord_3=2422;refseq.mrnaCoord_4=2385;refseq.mrnaCoord_5=2164;refseq.name2_1=SCARF1;refseq.name2_2=SCARF1;refseq.name2_3=SCARF1;refseq.name2_4=SCARF1;refseq.name2_5=SCARF1;refseq.name_1=NR_028075;refseq.name_2=NR_028076;refseq.name_3=NM_003693;refseq.name_4=NM_145350;refseq.name_5=NM_145352;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.Q791R;refseq.proteinCoordStr_5=p.Q705R;refseq.referenceAA_3=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_3=CAG;refseq.referenceCodon_5=CAG;refseq.spliceDist_1=739;refseq.spliceDist_2=739;refseq.spliceDist_3=739;refseq.spliceDist_4=739;refseq.spliceDist_5=739;refseq.start_1=1484923;refseq.start_2=1484923;refseq.start_3=1484923;refseq.start_4=1484923;refseq.start_5=1484923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_3=CGG;refseq.variantCodon_5=CGG;set=FilteredInAll GT 1/0 chr17 1485296 . C T 44.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=92.25;MQ0=0;QD=14.75;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_3=c.1999G>A;refseq.codingCoordStr_4=c.*252G>A;refseq.codingCoordStr_5=c.1741G>A;refseq.codonCoord_3=667;refseq.codonCoord_5=581;refseq.end_1=1485296;refseq.end_2=1485296;refseq.end_3=1485296;refseq.end_4=1485296;refseq.end_5=1485296;refseq.frame_3=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1979;refseq.mrnaCoord_2=2456;refseq.mrnaCoord_3=2049;refseq.mrnaCoord_4=2012;refseq.mrnaCoord_5=1791;refseq.name2_1=SCARF1;refseq.name2_2=SCARF1;refseq.name2_3=SCARF1;refseq.name2_4=SCARF1;refseq.name2_5=SCARF1;refseq.name_1=NR_028075;refseq.name_2=NR_028076;refseq.name_3=NM_003693;refseq.name_4=NM_145350;refseq.name_5=NM_145352;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.G667S;refseq.proteinCoordStr_5=p.G581S;refseq.referenceAA_3=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_3=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=366;refseq.spliceDist_2=366;refseq.spliceDist_3=366;refseq.spliceDist_4=366;refseq.spliceDist_5=366;refseq.start_1=1485296;refseq.start_2=1485296;refseq.start_3=1485296;refseq.start_4=1485296;refseq.start_5=1485296;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_3=AGC;refseq.variantCodon_5=AGC;set=FilteredInAll GT 1/1 chr17 1485378 . C G 300.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.81;MQ0=0;OQ=488.73;QD=37.59;RankSumP=1.00000;SB=-52.47;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_3=c.1917G>C;refseq.codingCoordStr_4=c.*170G>C;refseq.codingCoordStr_5=c.1659G>C;refseq.codonCoord_3=639;refseq.codonCoord_5=553;refseq.end_1=1485378;refseq.end_2=1485378;refseq.end_3=1485378;refseq.end_4=1485378;refseq.end_5=1485378;refseq.frame_3=2;refseq.frame_5=2;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1897;refseq.mrnaCoord_2=2374;refseq.mrnaCoord_3=1967;refseq.mrnaCoord_4=1930;refseq.mrnaCoord_5=1709;refseq.name2_1=SCARF1;refseq.name2_2=SCARF1;refseq.name2_3=SCARF1;refseq.name2_4=SCARF1;refseq.name2_5=SCARF1;refseq.name_1=NR_028075;refseq.name_2=NR_028076;refseq.name_3=NM_003693;refseq.name_4=NM_145350;refseq.name_5=NM_145352;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.E639D;refseq.proteinCoordStr_5=p.E553D;refseq.referenceAA_3=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_3=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_1=284;refseq.spliceDist_2=284;refseq.spliceDist_3=284;refseq.spliceDist_4=284;refseq.spliceDist_5=284;refseq.start_1=1485378;refseq.start_2=1485378;refseq.start_3=1485378;refseq.start_4=1485378;refseq.start_5=1485378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_3=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 1/1 chr17 1485419 . C T 22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.34;MQ0=0;OQ=693.54;QD=26.67;RankSumP=1.00000;SB=-185.68;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_3=c.1876G>A;refseq.codingCoordStr_4=c.*129G>A;refseq.codingCoordStr_5=c.1618G>A;refseq.codonCoord_3=626;refseq.codonCoord_5=540;refseq.end_1=1485419;refseq.end_2=1485419;refseq.end_3=1485419;refseq.end_4=1485419;refseq.end_5=1485419;refseq.frame_3=0;refseq.frame_5=0;refseq.functionalClass_3=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1856;refseq.mrnaCoord_2=2333;refseq.mrnaCoord_3=1926;refseq.mrnaCoord_4=1889;refseq.mrnaCoord_5=1668;refseq.name2_1=SCARF1;refseq.name2_2=SCARF1;refseq.name2_3=SCARF1;refseq.name2_4=SCARF1;refseq.name2_5=SCARF1;refseq.name_1=NR_028075;refseq.name_2=NR_028076;refseq.name_3=NM_003693;refseq.name_4=NM_145350;refseq.name_5=NM_145352;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=utr3;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.G626S;refseq.proteinCoordStr_5=p.G540S;refseq.referenceAA_3=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_3=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=243;refseq.spliceDist_2=243;refseq.spliceDist_3=243;refseq.spliceDist_4=243;refseq.spliceDist_5=243;refseq.start_1=1485419;refseq.start_2=1485419;refseq.start_3=1485419;refseq.start_4=1485419;refseq.start_5=1485419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_3=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 1/1 chr17 1528824 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1701C>G;refseq.codonCoord=567;refseq.end=1528824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1815;refseq.name=NM_006445;refseq.name2=PRPF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G567G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-19;refseq.start=1528824;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 1563777 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.end_1=1563777;refseq.end_2=1563777;refseq.end_3=1563777;refseq.end_4=1563777;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=425;refseq.mrnaCoord_3=508;refseq.mrnaCoord_4=425;refseq.name2_1=C17orf91;refseq.name2_2=C17orf91;refseq.name2_3=C17orf91;refseq.name2_4=C17orf91;refseq.name_1=NR_028502;refseq.name_2=NR_028503;refseq.name_3=NR_028504;refseq.name_4=NR_028505;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=non_coding_exon;refseq.spliceDist_1=282;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.start_1=1563777;refseq.start_2=1563777;refseq.start_3=1563777;refseq.start_4=1563777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 1/0 chr17 1583937 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.1247C>G;refseq.codingCoordStr_2=c.4856C>G;refseq.codingCoordStr_3=c.1175C>G;refseq.codingCoordStr_4=c.1703C>G;refseq.codonCoord_1=416;refseq.codonCoord_2=1619;refseq.codonCoord_3=392;refseq.codonCoord_4=568;refseq.end_1=1583937;refseq.end_2=1583937;refseq.end_3=1583937;refseq.end_4=1583937;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1300;refseq.mrnaCoord_2=4985;refseq.mrnaCoord_3=1436;refseq.mrnaCoord_4=1937;refseq.name2_1=WDR81;refseq.name2_2=WDR81;refseq.name2_3=WDR81;refseq.name2_4=WDR81;refseq.name_1=NM_001163673;refseq.name_2=NM_001163809;refseq.name_3=NM_001163811;refseq.name_4=NM_152348;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A416G;refseq.proteinCoordStr_2=p.A1619G;refseq.proteinCoordStr_3=p.A392G;refseq.proteinCoordStr_4=p.A568G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-324;refseq.spliceDist_2=-324;refseq.spliceDist_3=-324;refseq.spliceDist_4=-324;refseq.start_1=1583937;refseq.start_2=1583937;refseq.start_3=1583937;refseq.start_4=1583937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr17 1620026 . C T 280.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.34;MQ0=0;OQ=2770.50;QD=33.38;RankSumP=1.00000;SB=-464.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.215C>T;refseq.codonCoord=72;refseq.end=1620026;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_002615;refseq.name2=SERPINF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-69;refseq.start=1620026;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr17 1626752 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=595;Dels=0.00;HRun=0;HaplotypeScore=32.07;MQ=98.75;MQ0=0;OQ=10531.11;QD=17.70;RankSumP=0.0673979;SB=-2834.93;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.963T>C;refseq.codonCoord=321;refseq.end=1626752;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_002615;refseq.name2=SERPINF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y321Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-35;refseq.start=1626752;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr17 1633160 . T C 327.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=98.94;MQ0=0;OQ=2768.08;QD=17.30;RankSumP=0.315132;SB=-1261.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2180A>G;refseq.codonCoord=727;refseq.end=1633160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2348;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y727C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=43;refseq.start=1633160;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr17 1633500 . A C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.500138;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2041T>G;refseq.codonCoord=681;refseq.end=1633500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2209;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S681A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=21;refseq.start=1633500;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr17 1650293 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=619;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.82;MQ0=0;OQ=13104.75;QD=21.17;RankSumP=0.194315;SB=-5521.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1145C>G;refseq.codonCoord=382;refseq.end=1650293;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1313;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P382R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-393;refseq.start=1650293;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr17 1651046 . C A 187 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=647.27;QD=17.98;RankSumP=0.301835;SB=-267.96;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.392G>T;refseq.codonCoord=131;refseq.end=1651046;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=560;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R131I;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=23;refseq.start=1651046;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr17 1677971 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=220;Dels=0.00;HRun=0;HaplotypeScore=13.78;MQ=98.89;MQ0=0;OQ=4439.70;QD=20.18;RankSumP=0.144056;SB=-1757.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.68T>C;refseq.codonCoord=23;refseq.end=1677971;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-67;refseq.start=1677971;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr17 1678018 . T C 300.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.55;MQ0=0;OQ=10292.38;QD=41.84;RankSumP=1.00000;SB=-4562.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.21A>G;refseq.codonCoord=7;refseq.end=1678018;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_052928;refseq.name2=SMYD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E7E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=33;refseq.start=1678018;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 1680149 . A G 44.56 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=22.28;RankSumP=1.00000;SB=-45.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.12A>G;refseq.codonCoord=4;refseq.end=1680149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_002945;refseq.name2=RPA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-22;refseq.start=1680149;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/1 chr17 1890638 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=2;HaplotypeScore=5.38;MQ=98.82;MQ0=0;OQ=6854.52;QD=18.88;RankSumP=0.432889;SB=-1895.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1011T>C;refseq.codonCoord=337;refseq.end=1890638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1029;refseq.name=NM_001383;refseq.name2=DPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P337P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-12;refseq.start=1890638;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr17 2149693 . T C 147.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.46;MQ0=0;OQ=2568.27;QD=14.27;RankSumP=0.484913;SB=-911.98;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1011A>G;refseq.codingCoordStr_2=c.1104A>G;refseq.codonCoord_1=337;refseq.codonCoord_2=368;refseq.end_1=2149693;refseq.end_2=2149693;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1522;refseq.mrnaCoord_2=1159;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S337S;refseq.proteinCoordStr_2=p.S368S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-744;refseq.spliceDist_2=-744;refseq.start_1=2149693;refseq.start_2=2149693;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr17 2149775 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=427;Dels=0.00;HRun=1;HaplotypeScore=19.28;MQ=98.79;MQ0=0;OQ=8622.28;QD=20.19;RankSumP=0.00148653;SB=-2776.53;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.929A>C;refseq.codingCoordStr_2=c.1022A>C;refseq.codonCoord_1=310;refseq.codonCoord_2=341;refseq.end_1=2149775;refseq.end_2=2149775;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1440;refseq.mrnaCoord_2=1077;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N310T;refseq.proteinCoordStr_2=p.N341T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-826;refseq.spliceDist_2=-826;refseq.start_1=2149775;refseq.start_2=2149775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 1/0 chr17 2149917 . T G 311.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=351;Dels=0.00;HRun=0;HaplotypeScore=11.28;MQ=98.67;MQ0=0;OQ=6298.88;QD=17.95;RankSumP=0.121593;SB=-1248.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.787A>C;refseq.codingCoordStr_2=c.880A>C;refseq.codonCoord_1=263;refseq.codonCoord_2=294;refseq.end_1=2149917;refseq.end_2=2149917;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1298;refseq.mrnaCoord_2=935;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K263Q;refseq.proteinCoordStr_2=p.K294Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=792;refseq.spliceDist_2=792;refseq.start_1=2149917;refseq.start_2=2149917;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr17 2149925 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=7.78;MQ=98.55;MQ0=0;OQ=7995.49;QD=24.08;RankSumP=0.0553771;SB=-3221.61;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.779G>C;refseq.codingCoordStr_2=c.872G>C;refseq.codonCoord_1=260;refseq.codonCoord_2=291;refseq.end_1=2149925;refseq.end_2=2149925;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1290;refseq.mrnaCoord_2=927;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R260P;refseq.proteinCoordStr_2=p.R291P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=784;refseq.spliceDist_2=784;refseq.start_1=2149925;refseq.start_2=2149925;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr17 2150098 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=3.05;MQ=98.04;MQ0=0;OQ=1970.55;QD=32.30;RankSumP=1.00000;SB=-703.21;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.606A>G;refseq.codingCoordStr_2=c.699A>G;refseq.codonCoord_1=202;refseq.codonCoord_2=233;refseq.end_1=2150098;refseq.end_2=2150098;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1117;refseq.mrnaCoord_2=754;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P202P;refseq.proteinCoordStr_2=p.P233P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=611;refseq.spliceDist_2=611;refseq.start_1=2150098;refseq.start_2=2150098;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr17 2150203 . A G 183.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=10323.28;QD=39.10;RankSumP=1.00000;SB=-5143.40;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.501T>C;refseq.codingCoordStr_2=c.594T>C;refseq.codonCoord_1=167;refseq.codonCoord_2=198;refseq.end_1=2150203;refseq.end_2=2150203;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1012;refseq.mrnaCoord_2=649;refseq.name2_1=SMG6;refseq.name2_2=SMG6;refseq.name_1=NM_001170957;refseq.name_2=NM_017575;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A167A;refseq.proteinCoordStr_2=p.A198A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=506;refseq.spliceDist_2=506;refseq.start_1=2150203;refseq.start_2=2150203;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr17 2173769 . C G 44 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=27;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=96.15;MQ0=0;OQ=93.69;QD=3.47;RankSumP=1.18536e-07;SB=-0.97;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.*471G>C;refseq.codingCoordStr_2=c.875C>G;refseq.codonCoord_2=292;refseq.end_1=2173769;refseq.end_2=2173769;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3843;refseq.mrnaCoord_2=943;refseq.name2_1=TSR1;refseq.name2_2=SRR;refseq.name_1=NM_018128;refseq.name_2=NM_021947;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A292G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=650;refseq.spliceDist_2=71;refseq.start_1=2173769;refseq.start_2=2173769;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr17 2180668 . A C 16.59 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=151;Dels=0.00;HRun=2;HaplotypeScore=12.46;MQ=97.94;MQ0=0;QD=0.11;RankSumP=0.00000;SB=122.42;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1661T>G;refseq.codonCoord=554;refseq.end=2180668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2618;refseq.name=NM_018128;refseq.name2=TSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V554G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=2180668;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr17 2183154 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=4179.78;QD=24.44;RankSumP=0.256705;SB=-868.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1156A>G;refseq.codonCoord=386;refseq.end=2183154;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2113;refseq.name=NM_018128;refseq.name2=TSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S386G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=15;refseq.start=2183154;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr17 2213549 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=96.78;MQ0=0;OQ=1082.48;QD=13.88;RankSumP=0.0572028;SB=-375.37;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.713G>A;refseq.codingCoordStr_2=c.713G>A;refseq.codonCoord_1=238;refseq.codonCoord_2=238;refseq.end_1=2213549;refseq.end_2=2213549;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=890;refseq.name2_1=SGSM2;refseq.name2_2=SGSM2;refseq.name_1=NM_001098509;refseq.name_2=NM_014853;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R238K;refseq.proteinCoordStr_2=p.R238K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=2213549;refseq.start_2=2213549;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr17 2213562 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=15.94;MQ=96.83;MQ0=0;OQ=922.58;QD=10.85;RankSumP=0.00415092;SB=-437.14;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.726T>C;refseq.codingCoordStr_2=c.726T>C;refseq.codonCoord_1=242;refseq.codonCoord_2=242;refseq.end_1=2213562;refseq.end_2=2213562;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=901;refseq.mrnaCoord_2=903;refseq.name2_1=SGSM2;refseq.name2_2=SGSM2;refseq.name_1=NM_001098509;refseq.name_2=NM_014853;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C242C;refseq.proteinCoordStr_2=p.C242C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=2213562;refseq.start_2=2213562;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=filterInsoap-gatk GT 1/0 chr17 2215061 . G A 220.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.16;MQ0=0;OQ=1574.04;QD=17.89;RankSumP=0.0325058;SB=-532.97;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1121G>A;refseq.codingCoordStr_2=c.1121G>A;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=2215061;refseq.end_2=2215061;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1296;refseq.mrnaCoord_2=1298;refseq.name2_1=SGSM2;refseq.name2_2=SGSM2;refseq.name_1=NM_001098509;refseq.name_2=NM_014853;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R374Q;refseq.proteinCoordStr_2=p.R374Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=2215061;refseq.start_2=2215061;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr17 2221428 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1411A>C;refseq.codingCoordStr_2=c.1546A>C;refseq.codonCoord_1=471;refseq.codonCoord_2=516;refseq.end_1=2221428;refseq.end_2=2221428;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1586;refseq.mrnaCoord_2=1723;refseq.name2_1=SGSM2;refseq.name2_2=SGSM2;refseq.name_1=NM_001098509;refseq.name_2=NM_014853;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T471P;refseq.proteinCoordStr_2=p.T516P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=2221428;refseq.start_2=2221428;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr17 2245383 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=4;RankSumP=1.45020e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.189A>C;refseq.codonCoord=63;refseq.end=2245383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=441;refseq.name=NM_020310;refseq.name2=MNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.P63P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=116;refseq.start=2245383;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 2942322 . G A 208.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=10.49;MQ=98.60;MQ0=0;OQ=2522.61;QD=14.58;RankSumP=0.308977;SB=-856.89;SecondBestBaseQ=33;set=Intersection GT 1/0 chr17 2942744 . T C 124.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=564;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=74.54;MQ0=13;OQ=10280.87;QD=18.23;RankSumP=0.00300100;SB=-4211.79;SecondBestBaseQ=32;set=filterInsoap-gatk GT 1/0 chr17 3047577 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=98.88;MQ0=0;OQ=3023.98;QD=12.65;RankSumP=4.63911e-05;SB=-1247.02;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.15T>C;refseq.codonCoord=5;refseq.end=3047577;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=15;refseq.name=NM_012352;refseq.name2=OR1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N5N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=15;refseq.start=3047577;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/0 chr17 3047826 . G C 216.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=574;Dels=0.00;HRun=0;HaplotypeScore=11.94;MQ=98.54;MQ0=0;OQ=12992.51;QD=22.64;RankSumP=0.316007;SB=-3895.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.264G>C;refseq.codonCoord=88;refseq.end=3047826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_012352;refseq.name2=OR1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G88G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=264;refseq.start=3047826;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr17 3048328 . G T 346.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=98.76;MQ0=0;OQ=3953.79;QD=18.56;RankSumP=0.495302;SB=-1413.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.766G>T;refseq.codonCoord=256;refseq.end=3048328;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_012352;refseq.name2=OR1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G256C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-165;refseq.start=3048328;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr17 3048441 . G T 223.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.92;MQ0=0;OQ=3233.06;QD=15.18;RankSumP=0.117895;SB=-1521.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.879G>T;refseq.codonCoord=293;refseq.end=3048441;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_012352;refseq.name2=OR1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W293C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-52;refseq.start=3048441;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr17 3065758 . T C 197.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=554;Dels=0.00;HRun=1;HaplotypeScore=9.12;MQ=98.53;MQ0=0;OQ=10847.09;QD=19.58;RankSumP=0.450664;SB=-2319.17;SecondBestBaseQ=33;set=Intersection GT 1/0 chr17 3128134 . C T 382.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=3794.68;QD=43.12;RankSumP=1.00000;SB=-1261.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.846G>A;refseq.codonCoord=282;refseq.end=3128134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=885;refseq.name=NM_002551;refseq.name2=OR3A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G282G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-201;refseq.start=3128134;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 3142253 . C T 299.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=369;Dels=0.00;HRun=1;HaplotypeScore=6.11;MQ=78.33;MQ0=11;OQ=14283.05;QD=38.71;RankSumP=1.00000;SB=-4441.76;SecondBestBaseQ=0;set=Intersection GT 1/1 chr17 3160931 . T G 293.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=552;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=98.52;MQ0=0;OQ=21143.67;QD=38.30;RankSumP=1.00000;SB=-6000.51;SecondBestBaseQ=0;refseq.chr=chr17;refseq.end=3160931;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=643;refseq.name=NR_024128;refseq.name2=OR3A4;refseq.positionType=non_coding_exon;refseq.spliceDist=-560;refseq.start=3160931;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr17 3248299 . G A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=363;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=57.83;MQ0=143;OQ=9476.95;QD=26.11;RankSumP=1.00000;SB=-3233.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=3248299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_003553;refseq.name2=OR1E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D52D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=156;refseq.start=3248299;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 3270836 rs12451522 G A 0.25 PASS AC=2;AF=1.00;AN=2;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=6.76;MQ0=374;OQ=51.02;QD=0.14;SB=-10.00;set=gatk GT:AD:DP:GL:GQ 1/1:194,180:2:-8.51,-0.60,-0.00:6.02 chr17 3283807 . A G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=675;Dels=0.00;HRun=0;HaplotypeScore=20.79;MQ=36.53;MQ0=557;OQ=4234.45;QD=6.27;RankSumP=1.00000;SB=-1201.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.79T>C;refseq.codonCoord=27;refseq.end=3283807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=79;refseq.name=NM_003554;refseq.name2=OR1E2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C27R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=79;refseq.start=3283807;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr17 3290269 . T C 455.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=98.85;MQ0=0;OQ=5384.43;QD=41.42;RankSumP=1.00000;SB=-2240.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.1014A>G;refseq.codingCoordStr_2=c.885A>G;refseq.codingCoordStr_3=c.1014A>G;refseq.codingCoordStr_4=c.1014A>G;refseq.codingCoordStr_5=c.*106A>G;refseq.codingCoordStr_6=c.1014A>G;refseq.codonCoord_1=338;refseq.codonCoord_2=295;refseq.codonCoord_3=338;refseq.codonCoord_4=338;refseq.codonCoord_6=338;refseq.end_1=3290269;refseq.end_2=3290269;refseq.end_3=3290269;refseq.end_4=3290269;refseq.end_5=3290269;refseq.end_6=3290269;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1190;refseq.mrnaCoord_2=1061;refseq.mrnaCoord_3=1196;refseq.mrnaCoord_4=1211;refseq.mrnaCoord_5=1332;refseq.mrnaCoord_6=1252;refseq.name2_1=SPATA22;refseq.name2_2=SPATA22;refseq.name2_3=SPATA22;refseq.name2_4=SPATA22;refseq.name2_5=SPATA22;refseq.name2_6=SPATA22;refseq.name_1=NM_001170695;refseq.name_2=NM_001170696;refseq.name_3=NM_001170697;refseq.name_4=NM_001170698;refseq.name_5=NM_001170699;refseq.name_6=NM_032598;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.E338E;refseq.proteinCoordStr_2=p.E295E;refseq.proteinCoordStr_3=p.E338E;refseq.proteinCoordStr_4=p.E338E;refseq.proteinCoordStr_6=p.E338E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_6=GAA;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.spliceDist_3=114;refseq.spliceDist_4=114;refseq.spliceDist_5=114;refseq.spliceDist_6=114;refseq.start_1=3290269;refseq.start_2=3290269;refseq.start_3=3290269;refseq.start_4=3290269;refseq.start_5=3290269;refseq.start_6=3290269;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantAA_6=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;refseq.variantCodon_6=GAG;set=Intersection GT 1/1 chr17 3299044 . A G 132.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=573;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=98.49;MQ0=0;OQ=23473.26;QD=40.97;RankSumP=1.00000;SB=-9922.19;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.479T>C;refseq.codingCoordStr_2=c.350T>C;refseq.codingCoordStr_3=c.479T>C;refseq.codingCoordStr_4=c.479T>C;refseq.codingCoordStr_5=c.479T>C;refseq.codingCoordStr_6=c.479T>C;refseq.codonCoord_1=160;refseq.codonCoord_2=117;refseq.codonCoord_3=160;refseq.codonCoord_4=160;refseq.codonCoord_5=160;refseq.codonCoord_6=160;refseq.end_1=3299044;refseq.end_2=3299044;refseq.end_3=3299044;refseq.end_4=3299044;refseq.end_5=3299044;refseq.end_6=3299044;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=526;refseq.mrnaCoord_3=661;refseq.mrnaCoord_4=676;refseq.mrnaCoord_5=895;refseq.mrnaCoord_6=717;refseq.name2_1=SPATA22;refseq.name2_2=SPATA22;refseq.name2_3=SPATA22;refseq.name2_4=SPATA22;refseq.name2_5=SPATA22;refseq.name2_6=SPATA22;refseq.name_1=NM_001170695;refseq.name_2=NM_001170696;refseq.name_3=NM_001170697;refseq.name_4=NM_001170698;refseq.name_5=NM_001170699;refseq.name_6=NM_032598;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I160T;refseq.proteinCoordStr_2=p.I117T;refseq.proteinCoordStr_3=p.I160T;refseq.proteinCoordStr_4=p.I160T;refseq.proteinCoordStr_5=p.I160T;refseq.proteinCoordStr_6=p.I160T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.referenceCodon_5=ATA;refseq.referenceCodon_6=ATA;refseq.spliceDist_1=150;refseq.spliceDist_2=150;refseq.spliceDist_3=150;refseq.spliceDist_4=150;refseq.spliceDist_5=150;refseq.spliceDist_6=150;refseq.start_1=3299044;refseq.start_2=3299044;refseq.start_3=3299044;refseq.start_4=3299044;refseq.start_5=3299044;refseq.start_6=3299044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;set=Intersection GT 1/1 chr17 3299081 . C T 185.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=8.63;MQ=98.41;MQ0=0;OQ=16464.50;QD=43.21;RankSumP=1.00000;SB=-4807.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.442G>A;refseq.codingCoordStr_2=c.313G>A;refseq.codingCoordStr_3=c.442G>A;refseq.codingCoordStr_4=c.442G>A;refseq.codingCoordStr_5=c.442G>A;refseq.codingCoordStr_6=c.442G>A;refseq.codonCoord_1=148;refseq.codonCoord_2=105;refseq.codonCoord_3=148;refseq.codonCoord_4=148;refseq.codonCoord_5=148;refseq.codonCoord_6=148;refseq.end_1=3299081;refseq.end_2=3299081;refseq.end_3=3299081;refseq.end_4=3299081;refseq.end_5=3299081;refseq.end_6=3299081;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=489;refseq.mrnaCoord_3=624;refseq.mrnaCoord_4=639;refseq.mrnaCoord_5=858;refseq.mrnaCoord_6=680;refseq.name2_1=SPATA22;refseq.name2_2=SPATA22;refseq.name2_3=SPATA22;refseq.name2_4=SPATA22;refseq.name2_5=SPATA22;refseq.name2_6=SPATA22;refseq.name_1=NM_001170695;refseq.name_2=NM_001170696;refseq.name_3=NM_001170697;refseq.name_4=NM_001170698;refseq.name_5=NM_001170699;refseq.name_6=NM_032598;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V148M;refseq.proteinCoordStr_2=p.V105M;refseq.proteinCoordStr_3=p.V148M;refseq.proteinCoordStr_4=p.V148M;refseq.proteinCoordStr_5=p.V148M;refseq.proteinCoordStr_6=p.V148M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.spliceDist_3=113;refseq.spliceDist_4=113;refseq.spliceDist_5=113;refseq.spliceDist_6=113;refseq.start_1=3299081;refseq.start_2=3299081;refseq.start_3=3299081;refseq.start_4=3299081;refseq.start_5=3299081;refseq.start_6=3299081;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantAA_5=Met;refseq.variantAA_6=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;refseq.variantCodon_5=ATG;refseq.variantCodon_6=ATG;set=Intersection GT 1/1 chr17 3344452 . C T 124.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.73;MQ0=0;OQ=2036.40;QD=14.14;RankSumP=0.481910;SB=-979.87;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.693C>T;refseq.codingCoordStr_2=c.693C>T;refseq.codonCoord_1=231;refseq.codonCoord_2=231;refseq.end_1=3344452;refseq.end_2=3344452;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=851;refseq.mrnaCoord_2=784;refseq.name2_1=ASPA;refseq.name2_2=ASPA;refseq.name_1=NM_000049;refseq.name_2=NM_001128085;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y231Y;refseq.proteinCoordStr_2=p.Y231Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=3344452;refseq.start_2=3344452;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr17 3368782 . G A 387.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.08;MQ0=0;OQ=3311.20;QD=38.50;RankSumP=1.00000;SB=-905.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1923C>T;refseq.codonCoord=641;refseq.end=3368782;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2245;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D641D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=113;refseq.start=3368782;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 3368827 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=98.47;MQ0=0;OQ=4684.34;QD=31.65;RankSumP=1.00000;SB=-452.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1878C>T;refseq.codonCoord=626;refseq.end=3368827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S626S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=68;refseq.start=3368827;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr17 3382830 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=24.03;MQ=98.79;MQ0=0;OQ=7629.69;QD=17.54;RankSumP=0.391354;SB=-2811.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.936G>A;refseq.codonCoord=312;refseq.end=3382830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1258;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T312T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-130;refseq.start=3382830;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 3392651 . T G 325.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.78;MQ0=0;OQ=7510.08;QD=36.28;RankSumP=1.00000;SB=-3154.23;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.558A>C;refseq.codonCoord=186;refseq.end=3392651;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I186I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-86;refseq.start=3392651;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 3394664 . C T 329.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.08;MQ0=0;OQ=4946.43;QD=41.57;RankSumP=1.00000;SB=-2309.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.270G>A;refseq.codonCoord=90;refseq.end=3394664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q90Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-42;refseq.start=3394664;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr17 3404822 . T C 136.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=65;Dels=0.02;HRun=0;HaplotypeScore=10.59;MQ=95.73;MQ0=0;OQ=2109.46;QD=32.45;RankSumP=1.00000;SB=-984.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.73A>G;refseq.codonCoord=25;refseq.end=3404822;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_145068;refseq.name2=TRPV3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I25V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-47;refseq.start=3404822;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr17 3460777 . G C 270.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.87;MQ0=0;OQ=5229.40;QD=46.28;RankSumP=1.00000;SB=-1413.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1263C>G;refseq.codonCoord=421;refseq.end=3460777;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_013276;refseq.name2=SHPK;refseq.positionType=CDS;refseq.proteinCoordStr=p.D421E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=239;refseq.start=3460777;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 3508145 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=26.29;MQ=98.31;MQ0=0;OQ=13485.49;QD=35.96;RankSumP=1.00000;SB=-1901.89;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.779C>T;refseq.codingCoordStr_2=c.779C>T;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=3508145;refseq.end_2=3508145;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1249;refseq.mrnaCoord_2=1372;refseq.name2_1=CTNS;refseq.name2_2=CTNS;refseq.name_1=NM_001031681;refseq.name_2=NM_004937;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T260I;refseq.proteinCoordStr_2=p.T260I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=3508145;refseq.start_2=3508145;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr17 3510712 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=10.06;MQ=98.71;MQ0=0;OQ=1592.45;QD=14.61;RankSumP=0.170283;SB=-362.00;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1138C>G;refseq.codingCoordStr_2=c.*300C>G;refseq.codonCoord_1=380;refseq.end_1=3510712;refseq.end_2=3510712;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1608;refseq.mrnaCoord_2=1997;refseq.name2_1=CTNS;refseq.name2_2=CTNS;refseq.name_1=NM_001031681;refseq.name_2=NM_004937;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P380A;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCA;refseq.spliceDist_1=53;refseq.spliceDist_2=434;refseq.start_1=3510712;refseq.start_2=3510712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCA;set=Intersection GT 1/0 chr17 3514761 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=2;HaplotypeScore=2.24;MQ=98.86;MQ0=0;OQ=8043.05;QD=39.82;RankSumP=1.00000;SB=-3902.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.120T>C;refseq.codonCoord=40;refseq.end=3514761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_014604;refseq.name2=TAX1BP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D40D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-40;refseq.start=3514761;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr17 3541024 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.400000;SecondBestBaseQ=18;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.335A>C;refseq.codingCoordStr_3=c.335A>C;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=3541676;refseq.end_2=3541024;refseq.end_3=3541024;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=619;refseq.mrnaCoord_3=619;refseq.name2_1=P2RX5;refseq.name2_2=P2RX5;refseq.name2_3=P2RX5;refseq.name_1=NM_175080;refseq.name_2=NM_002561;refseq.name_3=NM_175081;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.N112T;refseq.proteinCoordStr_3=p.N112T;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=3540734;refseq.start_2=3541024;refseq.start_3=3541024;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr17 3541026 . G T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.400000;SecondBestBaseQ=18;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.333C>A;refseq.codingCoordStr_3=c.333C>A;refseq.codonCoord_2=111;refseq.codonCoord_3=111;refseq.end_1=3541676;refseq.end_2=3541026;refseq.end_3=3541026;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=617;refseq.mrnaCoord_3=617;refseq.name2_1=P2RX5;refseq.name2_2=P2RX5;refseq.name2_3=P2RX5;refseq.name_1=NM_175080;refseq.name_2=NM_002561;refseq.name_3=NM_175081;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P111P;refseq.proteinCoordStr_3=p.P111P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=3540734;refseq.start_2=3541026;refseq.start_3=3541026;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 0/1 chr17 3575500 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1522G>T;refseq.codonCoord_2=508;refseq.end_1=3577951;refseq.end_2=3575500;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1555;refseq.name2_1=ITGAE;refseq.name2_2=GSG2;refseq.name_1=NM_002208;refseq.name_2=NM_031965;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V508L;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=-1242;refseq.start_1=3573798;refseq.start_2=3575500;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTA;set=FilteredInAll GT 0/1 chr17 3595963 . G A 444.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.46;MQ0=0;OQ=5368.63;QD=38.90;RankSumP=1.00000;SB=-1904.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2163C>T;refseq.codonCoord=721;refseq.end=3595963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2262;refseq.name=NM_002208;refseq.name2=ITGAE;refseq.positionType=CDS;refseq.proteinCoordStr=p.R721R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=3595963;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr17 3603908 . C T 212.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=11.59;MQ=97.97;MQ0=0;OQ=11167.96;QD=34.90;RankSumP=1.00000;SB=-5504.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1445G>A;refseq.codonCoord=482;refseq.end=3603908;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1544;refseq.name=NM_002208;refseq.name2=ITGAE;refseq.positionType=CDS;refseq.proteinCoordStr=p.R482Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=61;refseq.start=3603908;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 3603924 . T C 173.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.21;MQ0=0;OQ=10279.72;QD=32.95;RankSumP=1.00000;SB=-5104.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1429A>G;refseq.codonCoord=477;refseq.end=3603924;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1528;refseq.name=NM_002208;refseq.name2=ITGAE;refseq.positionType=CDS;refseq.proteinCoordStr=p.I477V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=45;refseq.start=3603924;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr17 3605297 . A C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.500380;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1247T>G;refseq.codonCoord=416;refseq.end=3605297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1346;refseq.name=NM_002208;refseq.name2=ITGAE;refseq.positionType=CDS;refseq.proteinCoordStr=p.V416G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=3605297;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 3791536 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=239;Dels=0.00;HRun=5;HaplotypeScore=6.17;MQ=98.41;MQ0=0;OQ=5433.92;QD=22.74;RankSumP=0.155750;SB=-2225.58;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.codingCoordStr_1=c.1707G>C;refseq.codingCoordStr_2=c.1707G>C;refseq.codingCoordStr_3=c.1707G>C;refseq.codingCoordStr_4=c.1707G>C;refseq.codingCoordStr_5=c.1707G>C;refseq.codingCoordStr_6=c.1707G>C;refseq.codingCoordStr_7=c.1707G>C;refseq.codonCoord_1=569;refseq.codonCoord_2=569;refseq.codonCoord_3=569;refseq.codonCoord_4=569;refseq.codonCoord_5=569;refseq.codonCoord_6=569;refseq.codonCoord_7=569;refseq.end_1=3791536;refseq.end_2=3791536;refseq.end_3=3791536;refseq.end_4=3791536;refseq.end_5=3791536;refseq.end_6=3791536;refseq.end_7=3791536;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1858;refseq.mrnaCoord_2=1858;refseq.mrnaCoord_3=1858;refseq.mrnaCoord_4=1858;refseq.mrnaCoord_5=1858;refseq.mrnaCoord_6=1858;refseq.mrnaCoord_7=1858;refseq.name2_1=ATP2A3;refseq.name2_2=ATP2A3;refseq.name2_3=ATP2A3;refseq.name2_4=ATP2A3;refseq.name2_5=ATP2A3;refseq.name2_6=ATP2A3;refseq.name2_7=ATP2A3;refseq.name_1=NM_005173;refseq.name_2=NM_174953;refseq.name_3=NM_174954;refseq.name_4=NM_174955;refseq.name_5=NM_174956;refseq.name_6=NM_174957;refseq.name_7=NM_174958;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A569A;refseq.proteinCoordStr_2=p.A569A;refseq.proteinCoordStr_3=p.A569A;refseq.proteinCoordStr_4=p.A569A;refseq.proteinCoordStr_5=p.A569A;refseq.proteinCoordStr_6=p.A569A;refseq.proteinCoordStr_7=p.A569A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.spliceDist_5=-58;refseq.spliceDist_6=-58;refseq.spliceDist_7=-58;refseq.start_1=3791536;refseq.start_2=3791536;refseq.start_3=3791536;refseq.start_4=3791536;refseq.start_5=3791536;refseq.start_6=3791536;refseq.start_7=3791536;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;set=Intersection GT 1/0 chr17 3793551 . A G 241.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=6.52;MQ=98.88;MQ0=0;OQ=3115.26;QD=14.29;RankSumP=0.135356;SB=-1565.89;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.codingCoordStr_1=c.1302T>C;refseq.codingCoordStr_2=c.1302T>C;refseq.codingCoordStr_3=c.1302T>C;refseq.codingCoordStr_4=c.1302T>C;refseq.codingCoordStr_5=c.1302T>C;refseq.codingCoordStr_6=c.1302T>C;refseq.codingCoordStr_7=c.1302T>C;refseq.codonCoord_1=434;refseq.codonCoord_2=434;refseq.codonCoord_3=434;refseq.codonCoord_4=434;refseq.codonCoord_5=434;refseq.codonCoord_6=434;refseq.codonCoord_7=434;refseq.end_1=3793551;refseq.end_2=3793551;refseq.end_3=3793551;refseq.end_4=3793551;refseq.end_5=3793551;refseq.end_6=3793551;refseq.end_7=3793551;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1453;refseq.mrnaCoord_2=1453;refseq.mrnaCoord_3=1453;refseq.mrnaCoord_4=1453;refseq.mrnaCoord_5=1453;refseq.mrnaCoord_6=1453;refseq.mrnaCoord_7=1453;refseq.name2_1=ATP2A3;refseq.name2_2=ATP2A3;refseq.name2_3=ATP2A3;refseq.name2_4=ATP2A3;refseq.name2_5=ATP2A3;refseq.name2_6=ATP2A3;refseq.name2_7=ATP2A3;refseq.name_1=NM_005173;refseq.name_2=NM_174953;refseq.name_3=NM_174954;refseq.name_4=NM_174955;refseq.name_5=NM_174956;refseq.name_6=NM_174957;refseq.name_7=NM_174958;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.Y434Y;refseq.proteinCoordStr_2=p.Y434Y;refseq.proteinCoordStr_3=p.Y434Y;refseq.proteinCoordStr_4=p.Y434Y;refseq.proteinCoordStr_5=p.Y434Y;refseq.proteinCoordStr_6=p.Y434Y;refseq.proteinCoordStr_7=p.Y434Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.referenceCodon_5=TAT;refseq.referenceCodon_6=TAT;refseq.referenceCodon_7=TAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.spliceDist_5=15;refseq.spliceDist_6=15;refseq.spliceDist_7=15;refseq.start_1=3793551;refseq.start_2=3793551;refseq.start_3=3793551;refseq.start_4=3793551;refseq.start_5=3793551;refseq.start_6=3793551;refseq.start_7=3793551;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;refseq.variantCodon_6=TAC;refseq.variantCodon_7=TAC;set=Intersection GT 0/1 chr17 3794762 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=97.50;MQ0=0;OQ=808.49;QD=5.90;RankSumP=0.455974;SB=-210.61;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.codingCoordStr_1=c.1272T>G;refseq.codingCoordStr_2=c.1272T>G;refseq.codingCoordStr_3=c.1272T>G;refseq.codingCoordStr_4=c.1272T>G;refseq.codingCoordStr_5=c.1272T>G;refseq.codingCoordStr_6=c.1272T>G;refseq.codingCoordStr_7=c.1272T>G;refseq.codonCoord_1=424;refseq.codonCoord_2=424;refseq.codonCoord_3=424;refseq.codonCoord_4=424;refseq.codonCoord_5=424;refseq.codonCoord_6=424;refseq.codonCoord_7=424;refseq.end_1=3794762;refseq.end_2=3794762;refseq.end_3=3794762;refseq.end_4=3794762;refseq.end_5=3794762;refseq.end_6=3794762;refseq.end_7=3794762;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1423;refseq.mrnaCoord_2=1423;refseq.mrnaCoord_3=1423;refseq.mrnaCoord_4=1423;refseq.mrnaCoord_5=1423;refseq.mrnaCoord_6=1423;refseq.mrnaCoord_7=1423;refseq.name2_1=ATP2A3;refseq.name2_2=ATP2A3;refseq.name2_3=ATP2A3;refseq.name2_4=ATP2A3;refseq.name2_5=ATP2A3;refseq.name2_6=ATP2A3;refseq.name2_7=ATP2A3;refseq.name_1=NM_005173;refseq.name_2=NM_174953;refseq.name_3=NM_174954;refseq.name_4=NM_174955;refseq.name_5=NM_174956;refseq.name_6=NM_174957;refseq.name_7=NM_174958;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A424A;refseq.proteinCoordStr_2=p.A424A;refseq.proteinCoordStr_3=p.A424A;refseq.proteinCoordStr_4=p.A424A;refseq.proteinCoordStr_5=p.A424A;refseq.proteinCoordStr_6=p.A424A;refseq.proteinCoordStr_7=p.A424A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.spliceDist_5=-16;refseq.spliceDist_6=-16;refseq.spliceDist_7=-16;refseq.start_1=3794762;refseq.start_2=3794762;refseq.start_3=3794762;refseq.start_4=3794762;refseq.start_5=3794762;refseq.start_6=3794762;refseq.start_7=3794762;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;refseq.variantCodon_5=GCG;refseq.variantCodon_6=GCG;refseq.variantCodon_7=GCG;set=Intersection GT 0/1 chr17 3940824 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1963T>G;refseq.codonCoord=655;refseq.end=3940824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2027;refseq.name=NM_015113;refseq.name2=ZZEF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F655V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=50;refseq.start=3940824;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr17 4035040 . C T 370.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.79;MQ0=0;OQ=3591.92;QD=39.47;RankSumP=1.00000;SB=-494.98;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1521G>A;refseq.codonCoord=507;refseq.end=4035040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1559;refseq.name=NM_016376;refseq.name2=ANKFY1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T507T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=51;refseq.start=4035040;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr17 4296139 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.450G>C;refseq.codonCoord=150;refseq.end=4296139;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S150S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=48;refseq.start=4296139;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr17 4298309 . G A 286.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.45;MQ0=0;OQ=2793.36;QD=37.75;RankSumP=1.00000;SB=-1141.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.732G>A;refseq.codonCoord=244;refseq.end=4298309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R244R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-39;refseq.start=4298309;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr17 4299288 . C T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=192;Dels=0.00;HRun=3;HaplotypeScore=11.58;MQ=98.55;MQ0=0;OQ=7162.75;QD=37.31;RankSumP=1.00000;SB=-3247.37;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.780C>T;refseq.codonCoord=260;refseq.end=4299288;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F260F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=4299288;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr17 4303124 . G T 331.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=98.27;MQ0=0;OQ=6350.31;QD=38.72;RankSumP=1.00000;SB=-2697.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.988G>T;refseq.codonCoord=330;refseq.end=4303124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A330S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=65;refseq.start=4303124;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr17 4337881 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=945.54;QD=9.01;RankSumP=0.364317;SB=-494.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1482C>T;refseq.codonCoord=494;refseq.end=4337881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1526;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N494N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=32;refseq.start=4337881;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr17 4337902 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=8.67;MQ=98.58;MQ0=0;OQ=799.13;QD=8.24;RankSumP=0.399656;SB=-389.22;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1503A>G;refseq.codonCoord=501;refseq.end=4337902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1547;refseq.name=NM_182538;refseq.name2=SPNS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L501L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=53;refseq.start=4337902;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr17 4398247 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1664A>C;refseq.codingCoordStr_2=c.1664A>C;refseq.codonCoord_1=555;refseq.codonCoord_2=555;refseq.end_1=4398247;refseq.end_2=4398247;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1726;refseq.mrnaCoord_2=1726;refseq.name2_1=MYBBP1A;refseq.name2_2=MYBBP1A;refseq.name_1=NM_001105538;refseq.name_2=NM_014520;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H555P;refseq.proteinCoordStr_2=p.H555P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=4398247;refseq.start_2=4398247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 4402249 . T C 269.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.93;MQ0=0;OQ=7861.10;QD=37.43;RankSumP=1.00000;SB=-3782.99;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.825A>G;refseq.codingCoordStr_2=c.825A>G;refseq.codonCoord_1=275;refseq.codonCoord_2=275;refseq.end_1=4402249;refseq.end_2=4402249;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=887;refseq.mrnaCoord_2=887;refseq.name2_1=MYBBP1A;refseq.name2_2=MYBBP1A;refseq.name_1=NM_001105538;refseq.name_2=NM_014520;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A275A;refseq.proteinCoordStr_2=p.A275A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=4402249;refseq.start_2=4402249;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 4409772 . G A 89.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=10.34;MQ=97.04;MQ0=0;OQ=2232.05;QD=28.62;RankSumP=1.00000;SB=-889.22;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.173C>T;refseq.codingCoordStr_2=c.173C>T;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=4409772;refseq.end_2=4409772;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=233;refseq.mrnaCoord_2=233;refseq.name2_1=GGT6;refseq.name2_2=GGT6;refseq.name_1=NM_001122890;refseq.name_2=NM_153338;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A58V;refseq.proteinCoordStr_2=p.A58V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=4409772;refseq.start_2=4409772;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr17 4443066 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=146;Dels=0.00;HRun=4;HaplotypeScore=15.73;MQ=97.99;MQ0=0;OQ=69.23;QD=0.47;RankSumP=1.20606e-06;SB=119.77;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.581A>C;refseq.codingCoordStr_2=c.149A>C;refseq.codonCoord_1=194;refseq.codonCoord_2=50;refseq.end_1=4443066;refseq.end_2=4443066;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=648;refseq.mrnaCoord_2=300;refseq.name2_1=SMTNL2;refseq.name2_2=SMTNL2;refseq.name_1=NM_001114974;refseq.name_2=NM_198501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H194P;refseq.proteinCoordStr_2=p.H50P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=94;refseq.spliceDist_2=94;refseq.start_1=4443066;refseq.start_2=4443066;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr17 4443909 . T C 326.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.87;MQ0=0;OQ=6188.47;QD=17.05;RankSumP=0.485677;SB=-2152.62;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.774T>C;refseq.codingCoordStr_2=c.342T>C;refseq.codonCoord_1=258;refseq.codonCoord_2=114;refseq.end_1=4443909;refseq.end_2=4443909;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=841;refseq.mrnaCoord_2=493;refseq.name2_1=SMTNL2;refseq.name2_2=SMTNL2;refseq.name_1=NM_001114974;refseq.name_2=NM_198501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y258Y;refseq.proteinCoordStr_2=p.Y114Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=4443909;refseq.start_2=4443909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr17 4445234 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.06549e-07;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.852G>C;refseq.codingCoordStr_2=c.420G>C;refseq.codonCoord_1=284;refseq.codonCoord_2=140;refseq.end_1=4445234;refseq.end_2=4445234;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=571;refseq.name2_1=SMTNL2;refseq.name2_2=SMTNL2;refseq.name_1=NM_001114974;refseq.name_2=NM_198501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P284P;refseq.proteinCoordStr_2=p.P140P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=4445234;refseq.start_2=4445234;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr17 4445360 . G A 152.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=98.63;MQ0=0;OQ=521.04;QD=15.79;RankSumP=0.175700;SB=-112.94;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.978G>A;refseq.codingCoordStr_2=c.546G>A;refseq.codonCoord_1=326;refseq.codonCoord_2=182;refseq.end_1=4445360;refseq.end_2=4445360;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1045;refseq.mrnaCoord_2=697;refseq.name2_1=SMTNL2;refseq.name2_2=SMTNL2;refseq.name_1=NM_001114974;refseq.name_2=NM_198501;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T326T;refseq.proteinCoordStr_2=p.T182T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=4445360;refseq.start_2=4445360;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr17 4488353 . C T 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.166667;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.715G>A;refseq.codonCoord=239;refseq.end=4488353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_001140;refseq.name2=ALOX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V239M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=69;refseq.start=4488353;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 0/1 chr17 4489474 rs41509647 C T 0.24 PASS AC=1;AF=0.50;AN=2;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=82.94;MQ0=8;OQ=409.04;QD=3.22;SB=-202.84;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.337G>A;refseq.codonCoord=113;refseq.end=4489474;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_001140;refseq.name2=ALOX15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=4489474;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=gatk GT:AD:DP:GL:GQ 0/1:100,27:109:-77.01,-32.83,-354.39:99 chr17 4569387 . C T 316.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=11.18;MQ=98.64;MQ0=0;OQ=4804.46;QD=19.37;RankSumP=0.118307;SB=-1330.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.840C>T;refseq.codingCoordStr_2=c.795C>T;refseq.codonCoord_1=280;refseq.codonCoord_2=265;refseq.end_1=4569387;refseq.end_2=4569387;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1068;refseq.mrnaCoord_2=1023;refseq.name2_1=ARRB2;refseq.name2_2=ARRB2;refseq.name_1=NM_004313;refseq.name_2=NM_199004;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S280S;refseq.proteinCoordStr_2=p.S265S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=4569387;refseq.start_2=4569387;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr17 4581880 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=3.14768e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.146C>G;refseq.codonCoord=49;refseq.end=4581880;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_001001683;refseq.name2=MED11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A49G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=61;refseq.start=4581880;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 4585233 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.61;MQ0=0;OQ=421.72;QD=11.71;RankSumP=0.616681;SB=-171.59;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.678A>G;refseq.codingCoordStr_2=c.678A>G;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.end_1=4585233;refseq.end_2=4585233;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1210;refseq.mrnaCoord_2=1210;refseq.name2_1=CXCL16;refseq.name2_2=CXCL16;refseq.name_1=NM_001100812;refseq.name_2=NM_022059;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P226P;refseq.proteinCoordStr_2=p.P226P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=4585233;refseq.start_2=4585233;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr17 4585312 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=98.73;MQ0=0;OQ=1672.22;QD=19.22;RankSumP=0.228950;SB=-400.93;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.599C>T;refseq.codingCoordStr_2=c.599C>T;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=4585312;refseq.end_2=4585312;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1131;refseq.mrnaCoord_2=1131;refseq.name2_1=CXCL16;refseq.name2_2=CXCL16;refseq.name_1=NM_001100812;refseq.name_2=NM_022059;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A200V;refseq.proteinCoordStr_2=p.A200V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-177;refseq.spliceDist_2=-177;refseq.start_1=4585312;refseq.start_2=4585312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr17 4585486 . A G 293.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=98.94;MQ0=0;OQ=2651.93;QD=21.22;RankSumP=0.146679;SB=-1145.99;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.425T>C;refseq.codingCoordStr_2=c.425T>C;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.end_1=4585486;refseq.end_2=4585486;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=957;refseq.mrnaCoord_2=957;refseq.name2_1=CXCL16;refseq.name2_2=CXCL16;refseq.name_1=NM_001100812;refseq.name_2=NM_022059;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I142T;refseq.proteinCoordStr_2=p.I142T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=4585486;refseq.start_2=4585486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr17 4588504 . C T 335.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5145.59;QD=41.16;RankSumP=1.00000;SB=-2154.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.306G>A;refseq.codingCoordStr_2=c.306G>A;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.end_1=4588504;refseq.end_2=4588504;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=838;refseq.mrnaCoord_2=838;refseq.name2_1=CXCL16;refseq.name2_2=CXCL16;refseq.name_1=NM_001100812;refseq.name_2=NM_022059;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G102G;refseq.proteinCoordStr_2=p.G102G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=4588504;refseq.start_2=4588504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr17 4592073 . T C 277.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=8.65;MQ=97.97;MQ0=0;OQ=2265.41;QD=16.30;RankSumP=0.0496340;SB=-866.35;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.942T>C;refseq.codingCoordStr_2=c.942T>C;refseq.codonCoord_1=314;refseq.codonCoord_2=314;refseq.end_1=4592073;refseq.end_2=4592073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=999;refseq.mrnaCoord_2=981;refseq.name2_1=ZMYND15;refseq.name2_2=ZMYND15;refseq.name_1=NM_001136046;refseq.name_2=NM_032265;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H314H;refseq.proteinCoordStr_2=p.H314H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=4592073;refseq.start_2=4592073;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr17 4630844 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.70;MQ0=0;OQ=1459.85;QD=12.81;RankSumP=0.00222406;SB=-460.95;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.189G>A;refseq.codonCoord=63;refseq.end=4630844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_003963;refseq.name2=TM4SF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P63P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=12;refseq.start=4630844;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/0 chr17 4633161 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=394;Dels=0.00;HRun=2;HaplotypeScore=12.05;MQ=97.98;MQ0=0;OQ=5944.46;QD=15.09;RankSumP=0.000424078;SB=-2014.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.585A>C;refseq.codonCoord=195;refseq.end=4633161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_003963;refseq.name2=TM4SF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T195T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=4633161;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr17 4636312 . T C 121.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=4.49;MQ=98.49;MQ0=0;OQ=1421.22;QD=20.02;RankSumP=0.428932;SB=-629.39;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.76A>G;refseq.codingCoordStr_2=c.76A>G;refseq.codingCoordStr_3=c.76A>G;refseq.codingCoordStr_4=c.76A>G;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.codonCoord_3=26;refseq.codonCoord_4=26;refseq.end_1=4636312;refseq.end_2=4636312;refseq.end_3=4636312;refseq.end_4=4636312;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=158;refseq.mrnaCoord_2=158;refseq.mrnaCoord_3=158;refseq.mrnaCoord_4=158;refseq.name2_1=VMO1;refseq.name2_2=VMO1;refseq.name2_3=VMO1;refseq.name2_4=VMO1;refseq.name_1=NM_001144939;refseq.name_2=NM_001144940;refseq.name_3=NM_001144941;refseq.name_4=NM_182566;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T26A;refseq.proteinCoordStr_2=p.T26A;refseq.proteinCoordStr_3=p.T26A;refseq.proteinCoordStr_4=p.T26A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-120;refseq.spliceDist_2=-120;refseq.spliceDist_3=-120;refseq.spliceDist_4=-120;refseq.start_1=4636312;refseq.start_2=4636312;refseq.start_3=4636312;refseq.start_4=4636312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr17 4639794 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=97.93;MQ0=0;OQ=603.95;QD=7.64;RankSumP=0.176283;SB=-299.56;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.339A>G;refseq.codonCoord=113;refseq.end=4639794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_001014985;refseq.name2=GLTPD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E113E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=4639794;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 4646510 . G A 171.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=99.00;MQ0=0;OQ=486.89;QD=14.75;RankSumP=0.418667;SB=-205.89;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.63G>A;refseq.codonCoord=21;refseq.end=4646510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_002798;refseq.name2=PSMB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-40;refseq.start=4646510;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr17 4659359 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=313.79;QD=12.07;RankSumP=0.467479;SB=-45.96;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.384A>T;refseq.codonCoord=128;refseq.end=4659359;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_002663;refseq.name2=PLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R128R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=4659359;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr17 4665742 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=2;HaplotypeScore=7.22;MQ=98.55;MQ0=0;OQ=1239.48;QD=13.19;RankSumP=0.240257;SB=-395.87;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1179A>G;refseq.codonCoord=393;refseq.end=4665742;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1280;refseq.name=NM_002663;refseq.name2=PLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E393E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=4665742;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 4667435 . C T 137.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.27;MQ0=0;OQ=1068.40;QD=13.35;RankSumP=0.164273;SB=-492.65;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1730C>T;refseq.codonCoord=577;refseq.end=4667435;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1831;refseq.name=NM_002663;refseq.name2=PLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T577I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=29;refseq.start=4667435;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr17 4668342 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=3;HaplotypeScore=2.79;MQ=98.57;MQ0=0;OQ=3035.03;QD=13.86;RankSumP=0.222268;SB=-773.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1895A>G;refseq.codonCoord=632;refseq.end=4668342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1996;refseq.name=NM_002663;refseq.name2=PLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E632G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-26;refseq.start=4668342;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr17 4669751 . G A 187.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=3.54;MQ=98.21;MQ0=0;OQ=1699.69;QD=17.89;RankSumP=0.113859;SB=-734.71;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2370G>A;refseq.codonCoord=790;refseq.end=4669751;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2471;refseq.name=NM_002663;refseq.name2=PLD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L790L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=62;refseq.start=4669751;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr17 4743108 . G A 116.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.62;MQ0=0;OQ=1153.06;QD=15.58;RankSumP=0.0861510;SB=-472.92;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1293C>T;refseq.codonCoord=431;refseq.end=4743108;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1304;refseq.name=NM_000080;refseq.name2=CHRNE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A431A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-34;refseq.start=4743108;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr17 4797326 . C T 214.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.32;MQ0=0;OQ=1921.64;QD=21.35;RankSumP=0.412814;SB=-876.36;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.254C>T;refseq.codingCoordStr_2=c.254C>T;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=4797326;refseq.end_2=4797326;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=348;refseq.name2_1=ENO3;refseq.name2_2=ENO3;refseq.name_1=NM_001976;refseq.name_2=NM_053013;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A85V;refseq.proteinCoordStr_2=p.A85V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=4797326;refseq.start_2=4797326;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr17 4816290 . T C 189.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=3.87;MQ=98.71;MQ0=0;OQ=3162.21;QD=14.31;RankSumP=0.354917;SB=-1531.52;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.2775A>G;refseq.codingCoordStr_2=c.2838A>G;refseq.codingCoordStr_3=c.2766A>G;refseq.codingCoordStr_4=c.2769A>G;refseq.codonCoord_1=925;refseq.codonCoord_2=946;refseq.codonCoord_3=922;refseq.codonCoord_4=923;refseq.end_1=4816290;refseq.end_2=4816290;refseq.end_3=4816290;refseq.end_4=4816290;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2811;refseq.mrnaCoord_2=3250;refseq.mrnaCoord_3=3178;refseq.mrnaCoord_4=2906;refseq.name2_1=CAMTA2;refseq.name2_2=CAMTA2;refseq.name2_3=CAMTA2;refseq.name2_4=CAMTA2;refseq.name_1=NM_001171166;refseq.name_2=NM_001171167;refseq.name_3=NM_001171168;refseq.name_4=NM_015099;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P925P;refseq.proteinCoordStr_2=p.P946P;refseq.proteinCoordStr_3=p.P922P;refseq.proteinCoordStr_4=p.P923P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=4816290;refseq.start_2=4816290;refseq.start_3=4816290;refseq.start_4=4816290;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr17 4816352 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.67;MQ0=0;OQ=1452.75;QD=17.94;RankSumP=0.202867;SB=-515.32;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.2713T>C;refseq.codingCoordStr_2=c.2776T>C;refseq.codingCoordStr_3=c.2704T>C;refseq.codingCoordStr_4=c.2707T>C;refseq.codonCoord_1=905;refseq.codonCoord_2=926;refseq.codonCoord_3=902;refseq.codonCoord_4=903;refseq.end_1=4816352;refseq.end_2=4816352;refseq.end_3=4816352;refseq.end_4=4816352;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2749;refseq.mrnaCoord_2=3188;refseq.mrnaCoord_3=3116;refseq.mrnaCoord_4=2844;refseq.name2_1=CAMTA2;refseq.name2_2=CAMTA2;refseq.name2_3=CAMTA2;refseq.name2_4=CAMTA2;refseq.name_1=NM_001171166;refseq.name_2=NM_001171167;refseq.name_3=NM_001171168;refseq.name_4=NM_015099;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S905P;refseq.proteinCoordStr_2=p.S926P;refseq.proteinCoordStr_3=p.S902P;refseq.proteinCoordStr_4=p.S903P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.spliceDist_4=-102;refseq.start_1=4816352;refseq.start_2=4816352;refseq.start_3=4816352;refseq.start_4=4816352;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 0/1 chr17 4824542 . C G 211.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=7.05;MQ=98.67;MQ0=0;OQ=7326.18;QD=41.86;RankSumP=1.00000;SB=-1812.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.805G>C;refseq.codingCoordStr_2=c.868G>C;refseq.codingCoordStr_3=c.796G>C;refseq.codingCoordStr_4=c.799G>C;refseq.codonCoord_1=269;refseq.codonCoord_2=290;refseq.codonCoord_3=266;refseq.codonCoord_4=267;refseq.end_1=4824542;refseq.end_2=4824542;refseq.end_3=4824542;refseq.end_4=4824542;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=841;refseq.mrnaCoord_2=1280;refseq.mrnaCoord_3=1208;refseq.mrnaCoord_4=936;refseq.name2_1=CAMTA2;refseq.name2_2=CAMTA2;refseq.name2_3=CAMTA2;refseq.name2_4=CAMTA2;refseq.name_1=NM_001171166;refseq.name_2=NM_001171167;refseq.name_3=NM_001171168;refseq.name_4=NM_015099;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A269P;refseq.proteinCoordStr_2=p.A290P;refseq.proteinCoordStr_3=p.A266P;refseq.proteinCoordStr_4=p.A267P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=99;refseq.spliceDist_2=99;refseq.spliceDist_3=99;refseq.spliceDist_4=99;refseq.start_1=4824542;refseq.start_2=4824542;refseq.start_3=4824542;refseq.start_4=4824542;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 1/1 chr17 4867606 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=16.53;MQ=97.83;MQ0=0;OQ=264.59;QD=4.07;RankSumP=0.501428;SB=-144.83;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2748A>G;refseq.codonCoord=916;refseq.end=4867606;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3105;refseq.name=NM_006612;refseq.name2=KIF1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.P916P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=120;refseq.start=4867606;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr17 4877696 . G A 371.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.45;MQ0=0;OQ=3543.86;QD=38.94;RankSumP=1.00000;SB=-1281.21;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.812C>T;refseq.codingCoordStr_2=c.812C>T;refseq.codonCoord_1=271;refseq.codonCoord_2=271;refseq.end_1=4877696;refseq.end_2=4877696;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1525;refseq.mrnaCoord_2=1491;refseq.name2_1=GPR172B;refseq.name2_2=GPR172B;refseq.name_1=NM_001104577;refseq.name_2=NM_017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A271V;refseq.proteinCoordStr_2=p.A271V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-199;refseq.spliceDist_2=-199;refseq.start_1=4877696;refseq.start_2=4877696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr17 4878075 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=1.34;MQ=98.43;MQ0=0;OQ=1865.04;QD=12.86;RankSumP=0.189950;SB=-670.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.433C>A;refseq.codingCoordStr_2=c.433C>A;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=4878075;refseq.end_2=4878075;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1146;refseq.mrnaCoord_2=1112;refseq.name2_1=GPR172B;refseq.name2_2=GPR172B;refseq.name_1=NM_001104577;refseq.name_2=NM_017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R145R;refseq.proteinCoordStr_2=p.R145R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=303;refseq.spliceDist_2=303;refseq.start_1=4878075;refseq.start_2=4878075;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr17 4878299 . T C 106.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.36;MQ0=0;OQ=1473.65;QD=32.75;RankSumP=1.00000;SB=-517.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.209A>G;refseq.codingCoordStr_2=c.209A>G;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=4878299;refseq.end_2=4878299;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=922;refseq.mrnaCoord_2=888;refseq.name2_1=GPR172B;refseq.name2_2=GPR172B;refseq.name_1=NM_001104577;refseq.name_2=NM_017986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q70R;refseq.proteinCoordStr_2=p.Q70R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.start_1=4878299;refseq.start_2=4878299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr17 4976948 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=916;Dels=0.00;HRun=0;HaplotypeScore=18.33;MQ=93.23;MQ0=0;OQ=299.48;QD=0.33;SB=892.44;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.215C>G;refseq.codonCoord=72;refseq.end=4976948;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1914;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=20;refseq.start=4976948;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:729,184:734:-254.31,-221.08,-3310.62:99 chr17 4976998 . C A 1.71 PASS AC=1;AF=0.50;AN=2;DP=615;Dels=0.00;HRun=1;HaplotypeScore=9.09;MQ=92.34;MQ0=0;OQ=7369.71;QD=11.98;SB=-418.96;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.265C>A;refseq.codonCoord=89;refseq.end=4976998;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1964;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H89N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-12;refseq.start=4976998;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=gatk GT:AD:DP:GL:GQ 0/1:432,183:591:-735.97,-177.95,-1663.31:99 chr17 4977005 . G C 4.68 PASS AC=1;AF=0.50;AN=2;DP=536;Dels=0.00;HRun=1;HaplotypeScore=6.49;MQ=91.34;MQ0=0;OQ=8757.28;QD=16.34;SB=-282.79;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.272G>C;refseq.codonCoord=91;refseq.end=4977005;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S91T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=4977005;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:358,177:513:-874.73,-154.49,-1618.49:99 chr17 4977485 . A C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=465;Dels=0.00;HRun=0;HaplotypeScore=6.40;MQ=86.71;MQ0=0;OQ=92.22;QD=0.20;SB=-13.83;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.300A>C;refseq.codonCoord=100;refseq.end=4977485;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1999;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G100G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=24;refseq.start=4977485;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:427,36:441:-145.29,-132.79,-1619.16:99 chr17 4977919 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=540;Dels=0.00;HRun=1;HaplotypeScore=2.72;MQ=88.14;MQ0=28;OQ=2729.01;QD=5.05;RankSumP=0.177933;SB=-1181.94;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.398G>A;refseq.codonCoord=133;refseq.end=4977919;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2097;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R133K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=14;refseq.start=4977919;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr17 4979301 . G A 39.83 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=317;Dels=0.00;HRun=0;HaplotypeScore=15.10;MQ=96.27;MQ0=1;QD=0.13;SB=-1.18;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.543G>A;refseq.codonCoord=181;refseq.end=4979301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2242;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P181P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=4979301;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:294,23:309:-100.31,-93.05,-1142.88:72.67 chr17 4985447 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.110559;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1502A>G;refseq.codonCoord=501;refseq.end=4985447;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3201;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H501R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=4985447;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr17 4985486 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.376028;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1541C>T;refseq.codonCoord=514;refseq.end=4985486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3240;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T514I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-33;refseq.start=4985486;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr17 4985514 . A C 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.193063;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1569A>C;refseq.codonCoord=523;refseq.end=4985514;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3268;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q523H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=4985514;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr17 4986056 . C T 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.505828;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1608C>T;refseq.codonCoord=536;refseq.end=4986056;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3307;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N536N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=35;refseq.start=4986056;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 0/1 chr17 4986479 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.214459;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1776C>T;refseq.codonCoord=592;refseq.end=4986479;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3475;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L592L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-43;refseq.start=4986479;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr17 4986499 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.167184;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1796G>A;refseq.codonCoord=599;refseq.end=4986499;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3495;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S599N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-23;refseq.start=4986499;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr17 4988807 . C T 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.343364;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1917C>T;refseq.codonCoord=639;refseq.end=4988807;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3616;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L639L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-76;refseq.start=4988807;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 0/1 chr17 4988810 . C T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.311034;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1920C>T;refseq.codonCoord=640;refseq.end=4988810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3619;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N640N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-73;refseq.start=4988810;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 0/1 chr17 4989429 . G A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.139666;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1998G>A;refseq.codonCoord=666;refseq.end=4989429;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3697;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.W666*;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=4989429;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 1/0 chr17 4989460 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.385021;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2029A>G;refseq.codonCoord=677;refseq.end=4989460;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3728;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I677V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=37;refseq.start=4989460;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 0/1 chr17 4989498 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.155508;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2067C>A;refseq.codonCoord=689;refseq.end=4989498;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3766;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V689V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=75;refseq.start=4989498;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 1/0 chr17 4990130 . G T 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.159214;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2256G>T;refseq.codonCoord=752;refseq.end=4990130;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3955;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R752S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-64;refseq.start=4990130;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr17 4999532 . G A 144.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=492;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=89.83;MQ0=1;OQ=21365.54;QD=43.43;RankSumP=1.00000;SB=-9312.73;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2735G>A;refseq.codonCoord=912;refseq.end=4999532;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4434;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R912Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=92;refseq.start=4999532;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 5013040 . C T 151.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=7.42;MQ=78.80;MQ0=25;OQ=4642.48;QD=32.02;RankSumP=1.00000;SB=-1598.53;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3483C>T;refseq.codonCoord=1161;refseq.end=5013040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5182;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1161S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-35;refseq.start=5013040;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 5014610 . C T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.666667;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3630C>T;refseq.codonCoord=1210;refseq.end=5014610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5329;refseq.name=NM_004505;refseq.name2=USP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1210P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=113;refseq.start=5014610;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr17 5026617 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=445;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=95.55;MQ0=0;OQ=19539.38;QD=43.91;RankSumP=1.00000;SB=-8499.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1659G>A;refseq.codonCoord=553;refseq.end=5026617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1815;refseq.name=NM_032530;refseq.name2=ZNF594;refseq.positionType=CDS;refseq.proteinCoordStr=p.E553E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1679;refseq.start=5026617;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr17 5027568 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=5027568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=864;refseq.name=NM_032530;refseq.name2=ZNF594;refseq.positionType=CDS;refseq.proteinCoordStr=p.G236G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=728;refseq.start=5027568;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr17 5027764 . A G 243.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.86;MQ0=0;OQ=12931.23;QD=41.85;RankSumP=1.00000;SB=-5231.80;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.512T>C;refseq.codonCoord=171;refseq.end=5027764;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_032530;refseq.name2=ZNF594;refseq.positionType=CDS;refseq.proteinCoordStr=p.I171T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=532;refseq.start=5027764;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr17 5067398 . A G 317.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=6.11;MQ=98.56;MQ0=0;OQ=6100.73;QD=40.14;RankSumP=1.00000;SB=-2941.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=5067398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_207103;refseq.name2=C17orf87;refseq.positionType=CDS;refseq.proteinCoordStr=p.G33G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-47;refseq.start=5067398;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 5067413 . G A 358.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.60;MQ0=0;OQ=6289.62;QD=40.06;RankSumP=1.00000;SB=-3102.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.84C>T;refseq.codonCoord=28;refseq.end=5067413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_207103;refseq.name2=C17orf87;refseq.positionType=CDS;refseq.proteinCoordStr=p.I28I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-62;refseq.start=5067413;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr17 5288433 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1940A>C;refseq.codonCoord=647;refseq.end=5288433;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1942;refseq.name=NM_020162;refseq.name2=DHX33;refseq.positionType=CDS;refseq.proteinCoordStr=p.H647P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=125;refseq.start=5288433;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 5358817 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_2=c.4271T>C;refseq.codingCoordStr_3=c.4403T>C;refseq.codingCoordStr_4=c.4313T>C;refseq.codingCoordStr_5=c.4181T>C;refseq.codonCoord_2=1424;refseq.codonCoord_3=1468;refseq.codonCoord_4=1438;refseq.codonCoord_5=1394;refseq.end_1=5361779;refseq.end_2=5358817;refseq.end_3=5358817;refseq.end_4=5358817;refseq.end_5=5358817;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=4826;refseq.mrnaCoord_3=4958;refseq.mrnaCoord_4=4868;refseq.mrnaCoord_5=4736;refseq.name2_1=NLRP1;refseq.name2_2=NLRP1;refseq.name2_3=NLRP1;refseq.name2_4=NLRP1;refseq.name2_5=NLRP1;refseq.name_1=NM_001033053;refseq.name_2=NM_014922;refseq.name_3=NM_033004;refseq.name_4=NM_033006;refseq.name_5=NM_033007;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.L1424P;refseq.proteinCoordStr_3=p.L1468P;refseq.proteinCoordStr_4=p.L1438P;refseq.proteinCoordStr_5=p.L1394P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_2=301;refseq.spliceDist_3=301;refseq.spliceDist_4=301;refseq.spliceDist_5=301;refseq.start_1=5345927;refseq.start_2=5358817;refseq.start_3=5358817;refseq.start_4=5358817;refseq.start_5=5358817;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr17 5427888 . C G 223.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=669.77;QD=37.21;RankSumP=1.00000;SB=-319.45;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.114G>C;refseq.codingCoordStr_2=c.114G>C;refseq.codingCoordStr_3=c.114G>C;refseq.codingCoordStr_4=c.114G>C;refseq.codingCoordStr_5=c.114G>C;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.codonCoord_5=38;refseq.end_1=5427888;refseq.end_2=5427888;refseq.end_3=5427888;refseq.end_4=5427888;refseq.end_5=5427888;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=669;refseq.mrnaCoord_3=669;refseq.mrnaCoord_4=669;refseq.mrnaCoord_5=669;refseq.name2_1=NLRP1;refseq.name2_2=NLRP1;refseq.name2_3=NLRP1;refseq.name2_4=NLRP1;refseq.name2_5=NLRP1;refseq.name_1=NM_001033053;refseq.name_2=NM_014922;refseq.name_3=NM_033004;refseq.name_4=NM_033006;refseq.name_5=NM_033007;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S38S;refseq.proteinCoordStr_2=p.S38S;refseq.proteinCoordStr_3=p.S38S;refseq.proteinCoordStr_4=p.S38S;refseq.proteinCoordStr_5=p.S38S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=-158;refseq.spliceDist_2=-158;refseq.spliceDist_3=-158;refseq.spliceDist_4=-158;refseq.spliceDist_5=-158;refseq.start_1=5427888;refseq.start_2=5427888;refseq.start_3=5427888;refseq.start_4=5427888;refseq.start_5=5427888;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;set=Intersection GT 1/1 chr17 5932068 . C T 335.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.66;MQ0=0;OQ=6729.40;QD=17.66;RankSumP=0.164555;SB=-2370.31;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.462C>T;refseq.codonCoord=154;refseq.end=5932068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_015253;refseq.name2=WSCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H154H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=35;refseq.start=5932068;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr17 5954900 . A G 442.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.78;MQ0=0;OQ=5728.23;QD=37.69;RankSumP=1.00000;SB=-2715.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1095A>G;refseq.codonCoord=365;refseq.end=5954900;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_015253;refseq.name2=WSCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T365T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-80;refseq.start=5954900;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 5962103 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1246A>G;refseq.codonCoord=416;refseq.end=5962103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1573;refseq.name=NM_015253;refseq.name2=WSCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R416G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=72;refseq.start=5962103;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 6270792 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=99.00;MQ0=0;OQ=701.72;QD=11.32;RankSumP=0.215333;SB=-231.57;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.462A>G;refseq.codingCoordStr_2=c.471A>G;refseq.codingCoordStr_3=c.651A>G;refseq.codonCoord_1=154;refseq.codonCoord_2=157;refseq.codonCoord_3=217;refseq.end_1=6270792;refseq.end_2=6270792;refseq.end_3=6270792;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=557;refseq.mrnaCoord_2=566;refseq.mrnaCoord_3=746;refseq.name2_1=AIPL1;refseq.name2_2=AIPL1;refseq.name2_3=AIPL1;refseq.name_1=NM_001033054;refseq.name_2=NM_001033055;refseq.name_3=NM_014336;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P154P;refseq.proteinCoordStr_2=p.P157P;refseq.proteinCoordStr_3=p.P217P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=6270792;refseq.start_2=6270792;refseq.start_3=6270792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr17 6272527 . T C 335.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=11.60;MQ=98.29;MQ0=0;OQ=5955.22;QD=18.10;RankSumP=0.348084;SB=-1679.97;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.120A>G;refseq.codingCoordStr_3=c.300A>G;refseq.codonCoord_2=40;refseq.codonCoord_3=100;refseq.end_1=6277952;refseq.end_2=6272527;refseq.end_3=6272527;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=215;refseq.mrnaCoord_3=395;refseq.name2_1=AIPL1;refseq.name2_2=AIPL1;refseq.name2_3=AIPL1;refseq.name_1=NM_001033054;refseq.name_2=NM_001033055;refseq.name_3=NM_014336;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L40L;refseq.proteinCoordStr_3=p.L100L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=6271112;refseq.start_2=6272527;refseq.start_3=6272527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr17 6291547 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.335T>G;refseq.codonCoord=112;refseq.end=6291547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_019013;refseq.name2=FAM64A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V112G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=41;refseq.start=6291547;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 6305477 . A G 166.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.76;MQ0=0;OQ=2821.43;QD=30.34;RankSumP=1.00000;SB=-1212.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2322T>C;refseq.codingCoordStr_2=c.2430T>C;refseq.codonCoord_1=774;refseq.codonCoord_2=810;refseq.end_1=6305477;refseq.end_2=6305477;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2473;refseq.mrnaCoord_2=2581;refseq.name2_1=PITPNM3;refseq.name2_2=PITPNM3;refseq.name_1=NM_001165966;refseq.name_2=NM_031220;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D774D;refseq.proteinCoordStr_2=p.D810D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=6305477;refseq.start_2=6305477;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr17 6322663 . G A 446.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.75;MQ0=0;OQ=3820.71;QD=40.22;RankSumP=1.00000;SB=-1554.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.597C>T;refseq.codingCoordStr_2=c.705C>T;refseq.codonCoord_1=199;refseq.codonCoord_2=235;refseq.end_1=6322663;refseq.end_2=6322663;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=856;refseq.name2_1=PITPNM3;refseq.name2_2=PITPNM3;refseq.name_1=NM_001165966;refseq.name_2=NM_031220;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T199T;refseq.proteinCoordStr_2=p.T235T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=6322663;refseq.start_2=6322663;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr17 6347607 . C T 308.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.53;MQ0=0;OQ=2902.84;QD=18.73;RankSumP=0.0101285;SB=-1192.71;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.130G>A;refseq.codingCoordStr_2=c.238G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=80;refseq.end_1=6347607;refseq.end_2=6347607;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=281;refseq.mrnaCoord_2=389;refseq.name2_1=PITPNM3;refseq.name2_2=PITPNM3;refseq.name_1=NM_001165966;refseq.name_2=NM_031220;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A44T;refseq.proteinCoordStr_2=p.A80T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=6347607;refseq.start_2=6347607;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr17 6382100 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=14.37;MQ=97.71;MQ0=0;OQ=1335.57;QD=13.77;RankSumP=0.343737;SB=-511.46;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.49C>T;refseq.codingCoordStr_2=c.49C>T;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=6382100;refseq.end_2=6382100;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=200;refseq.mrnaCoord_2=200;refseq.name2_1=PITPNM3;refseq.name2_2=PITPNM3;refseq.name_1=NM_001165966;refseq.name_2=NM_031220;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P17S;refseq.proteinCoordStr_2=p.P17S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=6382100;refseq.start_2=6382100;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr17 6433922 . T C 314.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=4.18;MQ=98.80;MQ0=0;OQ=8134.96;QD=36.98;RankSumP=1.00000;SB=-2486.66;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2687A>G;refseq.codonCoord=896;refseq.end=6433922;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3046;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q896R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-100;refseq.start=6433922;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 6452505 . A G 213.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=1818.26;QD=37.11;RankSumP=1.00000;SB=-175.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1716T>C;refseq.codonCoord=572;refseq.end=6452505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2075;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.A572A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=6452505;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 6454053 . G A 221.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=7.49;MQ=98.71;MQ0=0;OQ=1891.23;QD=21.25;RankSumP=0.484871;SB=-616.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1697C>T;refseq.codonCoord=566;refseq.end=6454053;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2056;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.P566L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-16;refseq.start=6454053;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr17 6456111 . A G 307.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=98.72;MQ0=0;OQ=8064.38;QD=37.86;RankSumP=1.00000;SB=-3627.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1397T>C;refseq.codonCoord=466;refseq.end=6456111;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1756;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.L466P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=82;refseq.start=6456111;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 6456178 . C T 291.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=6742.84;QD=42.95;RankSumP=1.00000;SB=-1939.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1330G>A;refseq.codonCoord=444;refseq.end=6456178;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1689;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.D444N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=15;refseq.start=6456178;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr17 6465022 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=96.91;MQ0=0;OQ=438.11;QD=10.69;RankSumP=0.630142;SB=-140.84;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1125A>T;refseq.codonCoord=375;refseq.end=6465022;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1484;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.E375D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=21;refseq.start=6465022;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr17 6472372 . A G 305.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.87;MQ0=0;OQ=8392.69;QD=37.80;RankSumP=1.00000;SB=-2042.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.507T>C;refseq.codonCoord=169;refseq.end=6472372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_014804;refseq.name2=KIAA0753;refseq.positionType=CDS;refseq.proteinCoordStr=p.S169S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-212;refseq.start=6472372;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 6538202 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1094C>A;refseq.codingCoordStr_2=c.1094C>A;refseq.codonCoord_1=365;refseq.codonCoord_2=365;refseq.end_1=6538202;refseq.end_2=6538202;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1182;refseq.name2_1=SLC13A5;refseq.name2_2=SLC13A5;refseq.name_1=NM_001143838;refseq.name_2=NM_177550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T365N;refseq.proteinCoordStr_2=p.T365N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=6538202;refseq.start_2=6538202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr17 6538204 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=30.94;MQ=98.04;MQ0=0;OQ=2354.94;QD=9.65;RankSumP=0.416166;SB=-933.61;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1092C>T;refseq.codingCoordStr_2=c.1092C>T;refseq.codonCoord_1=364;refseq.codonCoord_2=364;refseq.end_1=6538204;refseq.end_2=6538204;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1180;refseq.name2_1=SLC13A5;refseq.name2_2=SLC13A5;refseq.name_1=NM_001143838;refseq.name_2=NM_177550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A364A;refseq.proteinCoordStr_2=p.A364A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=6538204;refseq.start_2=6538204;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr17 6539819 . G A 141.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.96;MQ0=0;OQ=1609.10;QD=15.62;RankSumP=0.200475;SB=-728.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1005C>T;refseq.codingCoordStr_2=c.1005C>T;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.end_1=6539819;refseq.end_2=6539819;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1093;refseq.mrnaCoord_2=1093;refseq.name2_1=SLC13A5;refseq.name2_2=SLC13A5;refseq.name_1=NM_001143838;refseq.name_2=NM_177550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P335P;refseq.proteinCoordStr_2=p.P335P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=6539819;refseq.start_2=6539819;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr17 6548042 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=172;Dels=0.00;HRun=0;HaplotypeScore=15.87;MQ=98.11;MQ0=0;OQ=2756.93;QD=16.03;RankSumP=0.0718802;SB=-446.37;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.426G>A;refseq.codingCoordStr_2=c.426G>A;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.end_1=6548042;refseq.end_2=6548042;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=514;refseq.mrnaCoord_2=514;refseq.name2_1=SLC13A5;refseq.name2_2=SLC13A5;refseq.name_1=NM_001143838;refseq.name_2=NM_177550;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T142T;refseq.proteinCoordStr_2=p.T142T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=6548042;refseq.start_2=6548042;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr17 6615000 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.822T>C;refseq.codingCoordStr_2=c.765T>C;refseq.codonCoord_1=274;refseq.codonCoord_2=255;refseq.end_1=6615000;refseq.end_2=6615000;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1064;refseq.mrnaCoord_2=1007;refseq.name2_1=XAF1;refseq.name2_2=XAF1;refseq.name_1=NM_017523;refseq.name_2=NM_199139;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L274L;refseq.proteinCoordStr_2=p.L255L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=6615000;refseq.start_2=6615000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr17 6644845 . C T 116.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=589;Dels=0.00;HRun=0;HaplotypeScore=20.72;MQ=98.75;MQ0=0;OQ=11199.65;QD=19.01;RankSumP=0.452673;SB=-4204.01;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.994G>A;refseq.codonCoord=332;refseq.end=6644845;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1104;refseq.name=NM_053285;refseq.name2=TEKT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V332I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-56;refseq.start=6644845;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr17 6674396 . T C 116.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1795.30;QD=13.20;RankSumP=0.00454363;SB=-671.57;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.24A>G;refseq.codonCoord=8;refseq.end=6674396;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_053285;refseq.name2=TEKT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P8P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=41;refseq.start=6674396;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr17 6840283 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.123C>G;refseq.codonCoord=41;refseq.end=6840283;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_000697;refseq.name2=ALOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P41P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-13;refseq.start=6840283;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr17 6843467 . G A 356.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=8.84;MQ=98.64;MQ0=0;OQ=5169.36;QD=20.11;RankSumP=0.185211;SB=-1776.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.765G>A;refseq.codonCoord=255;refseq.end=6843467;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_000697;refseq.name2=ALOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S255S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-43;refseq.start=6843467;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr17 6843484 . A G 134.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=248;Dels=0.00;HRun=2;HaplotypeScore=2.62;MQ=98.69;MQ0=0;OQ=4526.93;QD=18.25;RankSumP=0.0692457;SB=-1491.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.782A>G;refseq.codonCoord=261;refseq.end=6843484;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_000697;refseq.name2=ALOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q261R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-26;refseq.start=6843484;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr17 6845658 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=98.49;MQ0=0;OQ=954.08;QD=10.60;RankSumP=0.106330;SB=-95.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.965A>G;refseq.codonCoord=322;refseq.end=6845658;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_000697;refseq.name2=ALOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N322S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=14;refseq.start=6845658;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr17 6845785 . T G 215.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=6.52;MQ=98.76;MQ0=0;OQ=5053.60;QD=16.09;RankSumP=0.367795;SB=-1845.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1092T>G;refseq.codonCoord=364;refseq.end=6845785;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1145;refseq.name=NM_000697;refseq.name2=ALOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T364T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-70;refseq.start=6845785;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr17 6859817 . T C 396.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=98.76;MQ0=0;OQ=4537.95;QD=38.79;RankSumP=1.00000;SB=-699.18;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.117T>C;refseq.codingCoordStr_3=c.117T>C;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.end_1=6860527;refseq.end_2=6859817;refseq.end_3=6859817;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=221;refseq.mrnaCoord_3=221;refseq.name2_1=C17orf49;refseq.name2_2=C17orf49;refseq.name2_3=C17orf49;refseq.name_1=NM_001142799;refseq.name_2=NM_001142798;refseq.name_3=NM_174893;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G39G;refseq.proteinCoordStr_3=p.G39G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=6859210;refseq.start_2=6859817;refseq.start_3=6859817;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr17 6870544 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.934T>G;refseq.codonCoord=312;refseq.end=6870544;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=996;refseq.name=NM_181844;refseq.name2=BCL6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C312G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=45;refseq.start=6870544;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr17 6870648 . T C 309.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.89;MQ0=0;OQ=3983.50;QD=41.07;RankSumP=1.00000;SB=-1306.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1038T>C;refseq.codonCoord=346;refseq.end=6870648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_181844;refseq.name2=BCL6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H346H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-17;refseq.start=6870648;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr17 6882835 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=337;Dels=0.00;HRun=1;HaplotypeScore=13.65;MQ=98.49;MQ0=0;OQ=11984.01;QD=35.56;RankSumP=1.00000;SB=-3121.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.984G>T;refseq.codonCoord=328;refseq.end=6882835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_201566;refseq.name2=SLC16A13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V328V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-98;refseq.start=6882835;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr17 6887081 . C A 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=99.00;MQ0=0;OQ=75.84;QD=5.06;RankSumP=0.511918;SB=-10.00;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.310G>T;refseq.codonCoord=104;refseq.end=6887081;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_153357;refseq.name2=SLC16A11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A104S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=36;refseq.start=6887081;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 1/0 chr17 6919903 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=97.78;MQ0=0;OQ=1256.13;QD=13.36;RankSumP=0.148239;SB=-249.47;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.474T>C;refseq.codingCoordStr_2=c.546T>C;refseq.codonCoord_1=158;refseq.codonCoord_2=182;refseq.end_1=6919903;refseq.end_2=6919903;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=777;refseq.mrnaCoord_2=849;refseq.name2_1=CLEC10A;refseq.name2_2=CLEC10A;refseq.name_1=NM_006344;refseq.name_2=NM_182906;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P158P;refseq.proteinCoordStr_2=p.P182P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=6919903;refseq.start_2=6919903;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr17 6920829 . G A 219.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.79;MQ0=0;OQ=2540.44;QD=16.39;RankSumP=0.0914469;SB=-1223.42;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.299C>T;refseq.codingCoordStr_2=c.299C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=6920829;refseq.end_2=6920829;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=602;refseq.mrnaCoord_2=602;refseq.name2_1=CLEC10A;refseq.name2_2=CLEC10A;refseq.name_1=NM_006344;refseq.name_2=NM_182906;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T100M;refseq.proteinCoordStr_2=p.T100M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=6920829;refseq.start_2=6920829;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr17 6920997 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=0.10;MQ=98.37;MQ0=0;OQ=1439.72;QD=13.98;RankSumP=0.463333;SB=-600.52;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.218G>A;refseq.codingCoordStr_2=c.218G>A;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=6920997;refseq.end_2=6920997;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=521;refseq.mrnaCoord_2=521;refseq.name2_1=CLEC10A;refseq.name2_2=CLEC10A;refseq.name_1=NM_006344;refseq.name_2=NM_182906;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R73K;refseq.proteinCoordStr_2=p.R73K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=6920997;refseq.start_2=6920997;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr17 6922121 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=9.25;MQ=98.55;MQ0=0;OQ=1371.50;QD=16.73;RankSumP=0.483713;SB=-118.73;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.103T>C;refseq.codingCoordStr_2=c.103T>C;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.end_1=6922121;refseq.end_2=6922121;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.name2_1=CLEC10A;refseq.name2_2=CLEC10A;refseq.name_1=NM_006344;refseq.name_2=NM_182906;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C35R;refseq.proteinCoordStr_2=p.C35R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.start_1=6922121;refseq.start_2=6922121;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr17 6952801 rs2304979 C T 17.15 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=95.81;MQ0=0;OQ=357.67;QD=11.54;SB=-186.63;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_2=c.255G>A;refseq.codingCoordStr_3=c.255G>A;refseq.codingCoordStr_4=c.198G>A;refseq.codonCoord_2=85;refseq.codonCoord_3=85;refseq.codonCoord_4=66;refseq.end_1=6952804;refseq.end_2=6952801;refseq.end_3=6952801;refseq.end_4=6952801;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=520;refseq.mrnaCoord_3=608;refseq.mrnaCoord_4=268;refseq.name2_1=ASGR2;refseq.name2_2=ASGR2;refseq.name2_3=ASGR2;refseq.name2_4=ASGR2;refseq.name_1=NM_080913;refseq.name_2=NM_001181;refseq.name_3=NM_080912;refseq.name_4=NM_080914;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G85G;refseq.proteinCoordStr_3=p.G85G;refseq.proteinCoordStr_4=p.G66G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.start_1=6952611;refseq.start_2=6952801;refseq.start_3=6952801;refseq.start_4=6952801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=gatk GT:AD:DP:GL:GQ 0/1:17,14:27:-47.18,-8.13,-66.76:99 chr17 6952803 rs2304978 C T 19.64 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=95.81;MQ0=0;OQ=364.69;QD=11.76;SB=-186.63;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_2=c.253G>A;refseq.codingCoordStr_3=c.253G>A;refseq.codingCoordStr_4=c.196G>A;refseq.codonCoord_2=85;refseq.codonCoord_3=85;refseq.codonCoord_4=66;refseq.end_1=6952804;refseq.end_2=6952803;refseq.end_3=6952803;refseq.end_4=6952803;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=518;refseq.mrnaCoord_3=606;refseq.mrnaCoord_4=266;refseq.name2_1=ASGR2;refseq.name2_2=ASGR2;refseq.name2_3=ASGR2;refseq.name2_4=ASGR2;refseq.name_1=NM_080913;refseq.name_2=NM_001181;refseq.name_3=NM_080912;refseq.name_4=NM_080914;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G85R;refseq.proteinCoordStr_3=p.G85R;refseq.proteinCoordStr_4=p.G66R;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceDist_4=-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.spliceInfo_4=splice-donor_-4;refseq.start_1=6952611;refseq.start_2=6952803;refseq.start_3=6952803;refseq.start_4=6952803;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=gatk GT:AD:DP:GL:GQ 0/1:18,13:28:-48.19,-8.43,-64.76:99 chr17 7018221 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=8.57675e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.554A>G;refseq.codonCoord=185;refseq.end=7018221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_001671;refseq.name2=ASGR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E185G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-41;refseq.start=7018221;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 7021040 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=5.31;MQ=96.84;MQ0=0;OQ=818.04;QD=16.36;RankSumP=0.726170;SB=-207.27;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.267G>A;refseq.codonCoord=89;refseq.end=7021040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=667;refseq.name=NM_001671;refseq.name2=ASGR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K89K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-17;refseq.start=7021040;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr17 7070564 . T C 244.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=98.34;MQ0=0;OQ=3920.34;QD=35.32;RankSumP=1.00000;SB=-850.92;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1662A>G;refseq.codonCoord=554;refseq.end=7070564;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1944;refseq.name=NM_004422;refseq.name2=DVL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q554Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-101;refseq.start=7070564;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 7073280 . C T 230.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=3.29;MQ=98.63;MQ0=0;OQ=2571.99;QD=19.78;RankSumP=0.406054;SB=-1169.90;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.855G>A;refseq.codonCoord=285;refseq.end=7073280;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1137;refseq.name=NM_004422;refseq.name2=DVL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q285Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=38;refseq.start=7073280;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr17 7073886 . G A 180.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=890.81;QD=18.95;RankSumP=0.533115;SB=-241.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.621C>T;refseq.codonCoord=207;refseq.end=7073886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_004422;refseq.name2=DVL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S207S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-36;refseq.start=7073886;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 7074333 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=2;HaplotypeScore=2.11;MQ=98.60;MQ0=0;OQ=1262.36;QD=10.43;RankSumP=0.332059;SB=-607.42;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.405C>T;refseq.codonCoord=135;refseq.end=7074333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_004422;refseq.name2=DVL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S135S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=7074333;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr17 7095258 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=4.17;MQ=91.05;MQ0=0;OQ=1944.43;QD=17.06;RankSumP=0.220856;SB=-693.16;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.82C>T;refseq.codingCoordStr_2=c.82C>T;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=7095258;refseq.end_2=7095258;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=529;refseq.name2_1=DULLARD;refseq.name2_2=DULLARD;refseq.name_1=NM_001143775;refseq.name_2=NM_015343;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L28L;refseq.proteinCoordStr_2=p.L28L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=7095258;refseq.start_2=7095258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr17 7104463 . A G 165.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1455.00;QD=14.70;RankSumP=0.288369;SB=-605.05;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.590T>C;refseq.codonCoord=197;refseq.end=7104463;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_001307;refseq.name2=CLDN7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=117;refseq.start=7104463;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr17 7127684 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.319G>T;refseq.codonCoord=107;refseq.end=7127684;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_001042;refseq.name2=SLC2A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107*;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=7127684;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 0/1 chr17 7127847 . T C 197.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=8.53;MQ=98.81;MQ0=0;OQ=3075.03;QD=13.73;RankSumP=0.166799;SB=-997.17;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.390T>C;refseq.codonCoord=130;refseq.end=7127847;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=590;refseq.name=NM_001042;refseq.name2=SLC2A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N130N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-59;refseq.start=7127847;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr17 7129897 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1272T>G;refseq.codonCoord=424;refseq.end=7129897;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_001042;refseq.name2=SLC2A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G424G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-55;refseq.start=7129897;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 7134529 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.509G>C;refseq.codonCoord=170;refseq.end=7134529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_015982;refseq.name2=YBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G170A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=50;refseq.start=7134529;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr17 7158187 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.85;MQ0=0;OQ=2439.09;QD=17.42;RankSumP=0.176450;SB=-1024.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.333A>G;refseq.codonCoord=111;refseq.end=7158187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_004489;refseq.name2=GPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L111L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=16;refseq.start=7158187;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr17 7162109 . G A 128.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=1611.18;QD=15.95;RankSumP=0.373652;SB=-797.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.4053C>T;refseq.codingCoordStr_2=c.4059C>T;refseq.codonCoord_1=1351;refseq.codonCoord_2=1353;refseq.end_1=7162109;refseq.end_2=7162109;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4060;refseq.mrnaCoord_2=4066;refseq.name2_1=NEURL4;refseq.name2_2=NEURL4;refseq.name_1=NM_001005408;refseq.name_2=NM_032442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1351P;refseq.proteinCoordStr_2=p.P1353P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=7162109;refseq.start_2=7162109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr17 7162184 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3978A>C;refseq.codingCoordStr_2=c.3984A>C;refseq.codonCoord_1=1326;refseq.codonCoord_2=1328;refseq.end_1=7162184;refseq.end_2=7162184;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3985;refseq.mrnaCoord_2=3991;refseq.name2_1=NEURL4;refseq.name2_2=NEURL4;refseq.name_1=NM_001005408;refseq.name_2=NM_032442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1326P;refseq.proteinCoordStr_2=p.P1328P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=7162184;refseq.start_2=7162184;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 7165645 . C G 201.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=201;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.56;MQ0=0;OQ=4600.46;QD=22.89;RankSumP=0.180830;SB=-1778.26;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3051G>C;refseq.codingCoordStr_2=c.3057G>C;refseq.codonCoord_1=1017;refseq.codonCoord_2=1019;refseq.end_1=7165645;refseq.end_2=7165645;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3058;refseq.mrnaCoord_2=3064;refseq.name2_1=NEURL4;refseq.name2_2=NEURL4;refseq.name_1=NM_001005408;refseq.name_2=NM_032442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1017H;refseq.proteinCoordStr_2=p.Q1019H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=7165645;refseq.start_2=7165645;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr17 7166046 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2727C>G;refseq.codingCoordStr_2=c.2733C>G;refseq.codonCoord_1=909;refseq.codonCoord_2=911;refseq.end_1=7166046;refseq.end_2=7166046;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2734;refseq.mrnaCoord_2=2740;refseq.name2_1=NEURL4;refseq.name2_2=NEURL4;refseq.name_1=NM_001005408;refseq.name_2=NM_032442;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G909G;refseq.proteinCoordStr_2=p.G911G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=7166046;refseq.start_2=7166046;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 7200672 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.552G>T;refseq.codonCoord=184;refseq.end=7200672;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_198154;refseq.name2=TMEM95;refseq.positionType=CDS;refseq.proteinCoordStr=p.L184F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=31;refseq.start=7200672;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr17 7234439 . C T 311 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=374.37;QD=37.44;RankSumP=1.00000;SB=-161.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.877G>A;refseq.codonCoord=293;refseq.end=7234439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1086;refseq.name=NM_020360;refseq.name2=PLSCR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V293I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=46;refseq.start=7234439;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 7259120 . C T 203.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.60;MQ0=0;OQ=712.78;QD=16.58;RankSumP=0.711648;SB=-330.88;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.966C>T;refseq.codonCoord=322;refseq.end=7259120;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_020795;refseq.name2=NLGN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S322S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-72;refseq.start=7259120;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 7259659 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=724;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.62;MQ0=0;OQ=12507.68;QD=17.28;RankSumP=0.000317560;SB=-4846.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1143C>T;refseq.codonCoord=381;refseq.end=7259659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1216;refseq.name=NM_020795;refseq.name2=NLGN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G381G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=106;refseq.start=7259659;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr17 7260977 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1643A>C;refseq.codonCoord=548;refseq.end=7260977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1716;refseq.name=NM_020795;refseq.name2=NLGN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N548T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=7260977;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr17 7261647 . G T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.690727;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2313G>T;refseq.codonCoord=771;refseq.end=7261647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2386;refseq.name=NM_020795;refseq.name2=NLGN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L771L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=679;refseq.start=7261647;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr17 7270356 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=586;Dels=0.00;HRun=0;HaplotypeScore=56.93;MQ=97.82;MQ0=0;OQ=4791.15;QD=8.18;RankSumP=0.0425534;SB=-516.84;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.322T>G;refseq.codonCoord=108;refseq.end=7270356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_175734;refseq.name2=C17orf74;refseq.positionType=CDS;refseq.proteinCoordStr=p.S108A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=126;refseq.start=7270356;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr17 7270426 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.392A>C;refseq.codonCoord=131;refseq.end=7270426;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=465;refseq.name=NM_175734;refseq.name2=C17orf74;refseq.positionType=CDS;refseq.proteinCoordStr=p.H131P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=196;refseq.start=7270426;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 7271443 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1409T>G;refseq.codonCoord=470;refseq.end=7271443;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1482;refseq.name=NM_175734;refseq.name2=C17orf74;refseq.positionType=CDS;refseq.proteinCoordStr=p.V470G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-168;refseq.start=7271443;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 7299434 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1152T>G;refseq.codonCoord=384;refseq.end=7299434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1193;refseq.name=NM_000747;refseq.name2=CHRNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G384G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-66;refseq.start=7299434;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 7307375 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.80;MQ0=0;OQ=266.06;QD=11.57;RankSumP=0.608164;SB=-129.71;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1650G>C;refseq.codingCoordStr_2=c.1650G>C;refseq.codonCoord_1=550;refseq.codonCoord_2=550;refseq.end_1=7307375;refseq.end_2=7307375;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1900;refseq.mrnaCoord_2=1976;refseq.name2_1=ZBTB4;refseq.name2_2=ZBTB4;refseq.name_1=NM_001128833;refseq.name_2=NM_020899;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M550I;refseq.proteinCoordStr_2=p.M550I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=559;refseq.spliceDist_2=559;refseq.start_1=7307375;refseq.start_2=7307375;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr17 7309835 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1010A>C;refseq.codingCoordStr_2=c.1010A>C;refseq.codonCoord_1=337;refseq.codonCoord_2=337;refseq.end_1=7309835;refseq.end_2=7309835;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1336;refseq.name2_1=ZBTB4;refseq.name2_2=ZBTB4;refseq.name_1=NM_001128833;refseq.name_2=NM_020899;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y337S;refseq.proteinCoordStr_2=p.Y337S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=7309835;refseq.start_2=7309835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr17 7340590 . G A 227.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.62;MQ0=0;OQ=3297.17;QD=41.74;RankSumP=1.00000;SB=-333.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.471G>A;refseq.codonCoord=157;refseq.end=7340590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-67;refseq.start=7340590;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 7340861 . T C 447.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.58;MQ0=0;OQ=4090.35;QD=37.18;RankSumP=1.00000;SB=-1953.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.592T>C;refseq.codonCoord=198;refseq.end=7340861;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L198L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=55;refseq.start=7340861;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr17 7343374 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1511A>C;refseq.codonCoord=504;refseq.end=7343374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1745;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H504P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=51;refseq.start=7343374;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 7344831 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=580;Dels=0.00;HRun=0;HaplotypeScore=14.89;MQ=98.71;MQ0=0;OQ=23453.47;QD=40.44;RankSumP=1.00000;SB=-10754.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1821T>C;refseq.codonCoord=607;refseq.end=7344831;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2055;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S607S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-61;refseq.start=7344831;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr17 7345715 . T C 325.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1795.09;QD=39.89;RankSumP=1.00000;SB=-192.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2292T>C;refseq.codonCoord=764;refseq.end=7345715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2526;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N764N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-58;refseq.start=7345715;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 7352494 . C T 332.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1687.62;QD=42.19;RankSumP=1.00000;SB=-486.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3441C>T;refseq.codonCoord=1147;refseq.end=7352494;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3675;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1147S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-25;refseq.start=7352494;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 7357323 . G A 61.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=81.92;MQ0=4;OQ=605.22;QD=22.42;RankSumP=1.00000;SB=-93.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5016G>A;refseq.codonCoord=1672;refseq.end=7357323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5250;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1672S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=260;refseq.start=7357323;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr17 7357407 . A G 43.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.06;MQ0=0;OQ=278.48;QD=30.94;RankSumP=1.00000;SB=-123.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5100A>G;refseq.codonCoord=1700;refseq.end=7357407;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5334;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1700S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=344;refseq.start=7357407;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 1/1 chr17 7357810 . G A 137.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=11.00;MQ=98.45;MQ0=0;OQ=12088.79;QD=40.30;RankSumP=1.00000;SB=-3924.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.5503G>A;refseq.codonCoord=1835;refseq.end=7357810;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5737;refseq.name=NM_000937;refseq.name2=POLR2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1835T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=747;refseq.start=7357810;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 7400846 . A G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=3;RankSumP=0.000629305;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.401A>G;refseq.codingCoordStr_2=c.401A>G;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.end_1=7400846;refseq.end_2=7400846;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=497;refseq.mrnaCoord_2=456;refseq.name2_1=TNFSF12;refseq.name2_2=TNFSF12-TNFSF13;refseq.name_1=NM_003809;refseq.name_2=NM_172089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E134G;refseq.proteinCoordStr_2=p.E134G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=7400846;refseq.start_2=7400846;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 7401241 . G C 83.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=96.95;MQ0=0;OQ=1253.32;QD=33.87;RankSumP=1.00000;SB=-504.23;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.600G>C;refseq.codonCoord_2=200;refseq.end_1=7403654;refseq.end_2=7401241;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=696;refseq.name2_1=TNFSF12-TNFSF13;refseq.name2_2=TNFSF12;refseq.name_1=NM_172089;refseq.name_2=NM_003809;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A200A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=102;refseq.start_1=7400954;refseq.start_2=7401241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr17 7401283 . T G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.11;MQ0=0;OQ=1348.78;QD=34.58;RankSumP=1.00000;SB=-617.54;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.642T>G;refseq.codonCoord_2=214;refseq.end_1=7403654;refseq.end_2=7401283;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=738;refseq.name2_1=TNFSF12-TNFSF13;refseq.name2_2=TNFSF12;refseq.name_1=NM_172089;refseq.name_2=NM_003809;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G214G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=144;refseq.start_1=7400954;refseq.start_2=7401283;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr17 7403693 . A G 446.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=98.73;MQ0=0;OQ=5888.18;QD=41.47;RankSumP=1.00000;SB=-2606.73;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.287A>G;refseq.codingCoordStr_2=c.287A>G;refseq.codingCoordStr_3=c.287A>G;refseq.codingCoordStr_4=c.527A>G;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.codonCoord_3=96;refseq.codonCoord_4=176;refseq.end_1=7403693;refseq.end_2=7403693;refseq.end_3=7403693;refseq.end_4=7403693;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1035;refseq.mrnaCoord_2=1035;refseq.mrnaCoord_3=1035;refseq.mrnaCoord_4=582;refseq.name2_1=TNFSF13;refseq.name2_2=TNFSF13;refseq.name2_3=TNFSF13;refseq.name2_4=TNFSF12-TNFSF13;refseq.name_1=NM_003808;refseq.name_2=NM_172087;refseq.name_3=NM_172088;refseq.name_4=NM_172089;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N96S;refseq.proteinCoordStr_2=p.N96S;refseq.proteinCoordStr_3=p.N96S;refseq.proteinCoordStr_4=p.N176S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.start_1=7403693;refseq.start_2=7403693;refseq.start_3=7403693;refseq.start_4=7403693;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/1 chr17 7418662 . G C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=17.51;MQ=89.52;MQ0=11;OQ=12203.70;QD=39.24;RankSumP=1.00000;SB=-5169.55;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.147G>C;refseq.codonCoord=49;refseq.end=7418662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_001416;refseq.name2=EIF4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A49A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-59;refseq.start=7418662;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 7470996 . C T 325.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.98;MQ0=0;OQ=3934.48;QD=41.42;RankSumP=1.00000;SB=-1488.74;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.294G>A;refseq.codonCoord_2=98;refseq.end_1=7474450;refseq.end_2=7470996;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=535;refseq.name2_1=SHBG;refseq.name2_2=SAT2;refseq.name_1=NR_027463;refseq.name_2=NM_133491;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P98P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-11;refseq.start_1=7458165;refseq.start_2=7470996;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr17 7498144 . A G 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=171;Dels=0.00;HRun=2;HaplotypeScore=1.80;MQ=98.92;MQ0=0;OQ=6559.75;QD=38.36;RankSumP=1.00000;SB=-3108.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.396A>G;refseq.codonCoord=132;refseq.end=7498144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_001678;refseq.name2=ATP1B2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G132G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=50;refseq.start=7498144;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr17 7520197 . G C 171.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.30;MQ0=0;OQ=603.37;QD=17.24;RankSumP=0.494374;SB=-10.00;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.215C>G;refseq.codingCoordStr_2=c.215C>G;refseq.codingCoordStr_3=c.215C>G;refseq.codingCoordStr_4=c.215C>G;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.codonCoord_3=72;refseq.codonCoord_4=72;refseq.end_1=7520197;refseq.end_2=7520197;refseq.end_3=7520197;refseq.end_4=7520197;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=409;refseq.mrnaCoord_3=412;refseq.mrnaCoord_4=412;refseq.name2_1=TP53;refseq.name2_2=TP53;refseq.name2_3=TP53;refseq.name2_4=TP53;refseq.name_1=NM_000546;refseq.name_2=NM_001126112;refseq.name_3=NM_001126113;refseq.name_4=NM_001126114;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P72R;refseq.proteinCoordStr_2=p.P72R;refseq.proteinCoordStr_3=p.P72R;refseq.proteinCoordStr_4=p.P72R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=119;refseq.spliceDist_2=119;refseq.spliceDist_3=119;refseq.spliceDist_4=119;refseq.start_1=7520197;refseq.start_2=7520197;refseq.start_3=7520197;refseq.start_4=7520197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 0/1 chr17 7620884 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=98.86;MQ0=0;OQ=1872.41;QD=15.35;RankSumP=0.191735;SB=-809.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5010G>A;refseq.codonCoord=1670;refseq.end=7620884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5024;refseq.name=NM_020877;refseq.name2=DNAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1670A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-49;refseq.start=7620884;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr17 7622137 . C G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=8.21;MQ=98.72;MQ0=0;OQ=12999.59;QD=49.81;RankSumP=1.00000;SB=-3778.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5265C>G;refseq.codonCoord=1755;refseq.end=7622137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5279;refseq.name=NM_020877;refseq.name2=DNAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1755V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=18;refseq.start=7622137;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr17 7630715 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.234256;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.6451C>A;refseq.codonCoord=2151;refseq.end=7630715;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6465;refseq.name=NM_020877;refseq.name2=DNAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2151R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-16;refseq.start=7630715;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr17 7663090 . C T 103.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=98.89;MQ0=0;OQ=1067.03;QD=20.13;RankSumP=0.163703;SB=-550.11;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.10799C>T;refseq.codonCoord=3600;refseq.end=7663090;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10813;refseq.name=NM_020877;refseq.name2=DNAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3600I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-17;refseq.start=7663090;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr17 7665290 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.11020A>C;refseq.codonCoord=3674;refseq.end=7665290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11034;refseq.name=NM_020877;refseq.name2=DNAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3674P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=7665290;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 7691691 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=3;RankSumP=0.529463;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1360G>C;refseq.codonCoord=454;refseq.end=7691691;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_001080424;refseq.name2=KDM6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A454P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=103;refseq.start=7691691;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 0/1 chr17 7695718 . G A 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=98.43;MQ0=0;OQ=963.01;QD=37.04;RankSumP=1.00000;SB=-210.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4044G>A;refseq.codonCoord=1348;refseq.end=7695718;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4420;refseq.name=NM_001080424;refseq.name2=KDM6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1348L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=28;refseq.start=7695718;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr17 7696343 . T G 26.79 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=62;Dels=0.00;HRun=2;HaplotypeScore=7.46;MQ=97.27;MQ0=0;QD=0.43;RankSumP=7.65029e-10;SB=83.28;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4432T>G;refseq.codonCoord=1478;refseq.end=7696343;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4808;refseq.name=NM_001080424;refseq.name2=KDM6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1478G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-37;refseq.start=7696343;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr17 7701459 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.8T>G;refseq.codonCoord=3;refseq.end=7701459;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_032356;refseq.name2=LSMD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-402;refseq.start=7701459;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr17 7749996 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.4499T>G;refseq.codingCoordStr_2=c.4322T>G;refseq.codingCoordStr_3=c.4322T>G;refseq.codonCoord_1=1500;refseq.codonCoord_2=1441;refseq.codonCoord_3=1441;refseq.end_1=7749996;refseq.end_2=7749996;refseq.end_3=7749996;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4501;refseq.mrnaCoord_2=4472;refseq.mrnaCoord_3=4472;refseq.name2_1=CHD3;refseq.name2_2=CHD3;refseq.name2_3=CHD3;refseq.name_1=NM_001005271;refseq.name_2=NM_001005273;refseq.name_3=NM_005852;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1500G;refseq.proteinCoordStr_2=p.V1441G;refseq.proteinCoordStr_3=p.V1441G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=7749996;refseq.start_2=7749996;refseq.start_3=7749996;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 7783778 . C T 150.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=6.77;MQ=98.24;MQ0=0;OQ=1349.60;QD=16.66;RankSumP=0.328918;SB=-647.12;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1150C>T;refseq.codingCoordStr_2=c.1150C>T;refseq.codonCoord_1=384;refseq.codonCoord_2=384;refseq.end_1=7783778;refseq.end_2=7783778;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2075;refseq.mrnaCoord_2=2075;refseq.name2_1=CNTROB;refseq.name2_2=CNTROB;refseq.name_1=NM_001037144;refseq.name_2=NM_053051;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L384L;refseq.proteinCoordStr_2=p.L384L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=7783778;refseq.start_2=7783778;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr17 7788680 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=487;Dels=0.00;HRun=1;HaplotypeScore=15.43;MQ=98.52;MQ0=0;OQ=9318.11;QD=19.13;RankSumP=0.0468890;SB=-2361.25;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1733C>A;refseq.codingCoordStr_2=c.1733C>A;refseq.codonCoord_1=578;refseq.codonCoord_2=578;refseq.end_1=7788680;refseq.end_2=7788680;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2658;refseq.mrnaCoord_2=2658;refseq.name2_1=CNTROB;refseq.name2_2=CNTROB;refseq.name_1=NM_001037144;refseq.name_2=NM_053051;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P578Q;refseq.proteinCoordStr_2=p.P578Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=7788680;refseq.start_2=7788680;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr17 7789812 . C G 105.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=3.20;MQ=98.96;MQ0=0;OQ=3828.69;QD=24.23;RankSumP=0.148336;SB=-1302.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1776C>G;refseq.codingCoordStr_2=c.1776C>G;refseq.codonCoord_1=592;refseq.codonCoord_2=592;refseq.end_1=7789812;refseq.end_2=7789812;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2701;refseq.mrnaCoord_2=2701;refseq.name2_1=CNTROB;refseq.name2_2=CNTROB;refseq.name_1=NM_001037144;refseq.name_2=NM_053051;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P592P;refseq.proteinCoordStr_2=p.P592P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=7789812;refseq.start_2=7789812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr17 7847914 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.61;MQ0=0;OQ=1184.70;QD=15.19;RankSumP=0.470117;SB=-89.87;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.741C>T;refseq.codonCoord=247;refseq.end=7847914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_000180;refseq.name2=GUCY2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.H247H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=20;refseq.start=7847914;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr17 7856645 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.01;MQ0=0;OQ=794.20;QD=19.86;RankSumP=0.691541;SB=-89.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2109G>A;refseq.codonCoord=703;refseq.end=7856645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2183;refseq.name=NM_000180;refseq.name2=GUCY2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.A703A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=7856645;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr17 7858004 . T A 154.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=9.16;MQ=98.55;MQ0=0;OQ=2478.01;QD=12.97;RankSumP=0.0307480;SB=-967.49;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2345T>A;refseq.codonCoord=782;refseq.end=7858004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2419;refseq.name=NM_000180;refseq.name2=GUCY2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.L782H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-68;refseq.start=7858004;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr17 7888900 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=11.84;MQ=97.30;MQ0=0;OQ=1387.45;QD=11.37;RankSumP=0.00377212;SB=-550.73;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.705C>T;refseq.codingCoordStr_2=c.705C>T;refseq.codingCoordStr_3=c.705C>T;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.codonCoord_3=235;refseq.end_1=7888900;refseq.end_2=7888900;refseq.end_3=7888900;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=821;refseq.mrnaCoord_2=821;refseq.mrnaCoord_3=821;refseq.name2_1=ALOX15B;refseq.name2_2=ALOX15B;refseq.name2_3=ALOX15B;refseq.name_1=NM_001039130;refseq.name_2=NM_001039131;refseq.name_3=NM_001141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D235D;refseq.proteinCoordStr_2=p.D235D;refseq.proteinCoordStr_3=p.D235D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=7888900;refseq.start_2=7888900;refseq.start_3=7888900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=filterInsoap-gatk GT 0/1 chr17 7891102 . C T 99.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=6.05;MQ=98.96;MQ0=0;OQ=2063.61;QD=14.64;RankSumP=0.183866;SB=-865.30;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1353C>T;refseq.codingCoordStr_2=c.1353C>T;refseq.codingCoordStr_3=c.1440C>T;refseq.codonCoord_1=451;refseq.codonCoord_2=451;refseq.codonCoord_3=480;refseq.end_1=7891102;refseq.end_2=7891102;refseq.end_3=7891102;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1469;refseq.mrnaCoord_2=1469;refseq.mrnaCoord_3=1556;refseq.name2_1=ALOX15B;refseq.name2_2=ALOX15B;refseq.name2_3=ALOX15B;refseq.name_1=NM_001039130;refseq.name_2=NM_001039131;refseq.name_3=NM_001141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I451I;refseq.proteinCoordStr_2=p.I451I;refseq.proteinCoordStr_3=p.I480I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-5;refseq.spliceDist_3=-18;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=7891102;refseq.start_2=7891102;refseq.start_3=7891102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr17 7891677 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=8.31;MQ=99.00;MQ0=0;OQ=825.73;QD=12.70;RankSumP=0.159514;SB=-250.87;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1563C>A;refseq.codingCoordStr_2=c.1428C>A;refseq.codingCoordStr_3=c.1650C>A;refseq.codonCoord_1=521;refseq.codonCoord_2=476;refseq.codonCoord_3=550;refseq.end_1=7891677;refseq.end_2=7891677;refseq.end_3=7891677;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1679;refseq.mrnaCoord_2=1544;refseq.mrnaCoord_3=1766;refseq.name2_1=ALOX15B;refseq.name2_2=ALOX15B;refseq.name2_3=ALOX15B;refseq.name_1=NM_001039130;refseq.name_2=NM_001039131;refseq.name_3=NM_001141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S521S;refseq.proteinCoordStr_2=p.S476S;refseq.proteinCoordStr_3=p.S550S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.start_1=7891677;refseq.start_2=7891677;refseq.start_3=7891677;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/0 chr17 7892544 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=180;Dels=0.00;HRun=3;HaplotypeScore=8.79;MQ=98.81;MQ0=0;OQ=2213.85;QD=12.30;RankSumP=0.309700;SB=-988.43;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1880A>G;refseq.codingCoordStr_2=c.1745A>G;refseq.codingCoordStr_3=c.1967A>G;refseq.codonCoord_1=627;refseq.codonCoord_2=582;refseq.codonCoord_3=656;refseq.end_1=7892544;refseq.end_2=7892544;refseq.end_3=7892544;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1996;refseq.mrnaCoord_2=1861;refseq.mrnaCoord_3=2083;refseq.name2_1=ALOX15B;refseq.name2_2=ALOX15B;refseq.name2_3=ALOX15B;refseq.name_1=NM_001039130;refseq.name_2=NM_001039131;refseq.name_3=NM_001141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q627R;refseq.proteinCoordStr_2=p.Q582R;refseq.proteinCoordStr_3=p.Q656R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=7892544;refseq.start_2=7892544;refseq.start_3=7892544;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr17 7925204 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=203;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.55;MQ0=0;OQ=3015.64;QD=14.86;RankSumP=0.0415615;SB=-1216.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.379C>T;refseq.codonCoord=127;refseq.end=7925204;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_001139;refseq.name2=ALOX12B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P127S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=27;refseq.start=7925204;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr17 7940682 . G A 176.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=549;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=98.74;MQ0=0;OQ=10614.44;QD=19.33;RankSumP=0.101905;SB=-4066.01;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2520C>T;refseq.codingCoordStr_2=c.2124C>T;refseq.codonCoord_1=840;refseq.codonCoord_2=708;refseq.end_1=7940682;refseq.end_2=7940682;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2658;refseq.mrnaCoord_2=2494;refseq.name2_1=ALOXE3;refseq.name2_2=ALOXE3;refseq.name_1=NM_001165960;refseq.name_2=NM_021628;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S840S;refseq.proteinCoordStr_2=p.S708S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=168;refseq.spliceDist_2=168;refseq.start_1=7940682;refseq.start_2=7940682;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr17 7965864 . G A 16.37 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=91.49;MQ0=0;QD=0.86;RankSumP=0.205128;SB=-30.60;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.443C>T;refseq.codingCoordStr_2=c.428C>T;refseq.codonCoord_1=148;refseq.codonCoord_2=143;refseq.end_1=7965864;refseq.end_2=7965864;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=451;refseq.mrnaCoord_2=436;refseq.name2_1=HES7;refseq.name2_2=HES7;refseq.name_1=NM_001165967;refseq.name_2=NM_032580;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P148L;refseq.proteinCoordStr_2=p.P143L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=217;refseq.spliceDist_2=202;refseq.start_1=7965864;refseq.start_2=7965864;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 1/0 chr17 7987497 . C G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=45;Dels=0.00;HRun=4;HaplotypeScore=2.89;MQ=98.12;MQ0=0;OQ=2120.37;QD=47.12;RankSumP=1.00000;SB=-997.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2884G>C;refseq.codonCoord=962;refseq.end=7987497;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3122;refseq.name=NM_002616;refseq.name2=PER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A962P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-189;refseq.start=7987497;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr17 7987768 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.0666667;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2613A>C;refseq.codonCoord=871;refseq.end=7987768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2851;refseq.name=NM_002616;refseq.name2=PER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P871P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=152;refseq.start=7987768;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 7988894 . T C 107.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.96;MQ0=0;OQ=1298.06;QD=28.85;RankSumP=1.00000;SB=-536.55;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2361A>G;refseq.codonCoord=787;refseq.end=7988894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2599;refseq.name=NM_002616;refseq.name2=PER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T787T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-101;refseq.start=7988894;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 7989008 . G A 377.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2212.13;QD=38.81;RankSumP=1.00000;SB=-611.30;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2247C>T;refseq.codonCoord=749;refseq.end=7989008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2485;refseq.name=NM_002616;refseq.name2=PER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G749G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=29;refseq.start=7989008;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr17 8017503 . C T 329.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=4568.97;QD=41.92;RankSumP=1.00000;SB=-1973.40;SecondBestBaseQ=0;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.*743G>A;refseq.codingCoordStr_2=c.*743G>A;refseq.end_1=8017503;refseq.end_2=8017503;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1294;refseq.mrnaCoord_2=1276;refseq.name2_1=TMEM107;refseq.name2_2=TMEM107;refseq.name_1=NM_032354;refseq.name_2=NM_183065;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=-483;refseq.spliceDist_2=-483;refseq.start_1=8017503;refseq.start_2=8017503;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr17 8017527 . T A 362.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.96;MQ0=0;OQ=4551.48;QD=38.90;RankSumP=1.00000;SB=-1953.25;SecondBestBaseQ=0;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.*719A>T;refseq.codingCoordStr_2=c.*719A>T;refseq.end_1=8017527;refseq.end_2=8017527;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1270;refseq.mrnaCoord_2=1252;refseq.name2_1=TMEM107;refseq.name2_2=TMEM107;refseq.name_1=NM_032354;refseq.name_2=NM_183065;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=-507;refseq.spliceDist_2=-507;refseq.start_1=8017527;refseq.start_2=8017527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr17 8033419 . T G 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=5;HaplotypeScore=0.32;MQ=96.57;MQ0=0;OQ=777.16;QD=33.79;RankSumP=1.00000;SB=-252.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.765A>C;refseq.codonCoord=255;refseq.end=8033419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_017622;refseq.name2=C17orf59;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=871;refseq.start=8033419;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chr17 8049056 . A G 394 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.98;MQ0=0;OQ=3882.90;QD=36.29;RankSumP=1.00000;SB=-1933.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.893T>C;refseq.codonCoord=298;refseq.end=8049056;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_004217;refseq.name2=AURKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.M298T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=32;refseq.start=8049056;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 8049064 . G A 334.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.98;MQ0=0;OQ=4575.09;QD=41.97;RankSumP=1.00000;SB=-2146.39;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.885C>T;refseq.codonCoord=295;refseq.end=8049064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_004217;refseq.name2=AURKB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S295S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=24;refseq.start=8049064;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 8073488 . T C 379.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=98.83;MQ0=0;OQ=3604.39;QD=37.16;RankSumP=1.00000;SB=-1383.50;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3013A>G;refseq.codonCoord=1005;refseq.end=8073488;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3072;refseq.name=NM_025099;refseq.name2=C17orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1005V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=8073488;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr17 8075786 . T C 439.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.63;MQ0=0;OQ=4907.91;QD=36.90;RankSumP=1.00000;SB=-1798.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2458A>G;refseq.codonCoord=820;refseq.end=8075786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2517;refseq.name=NM_025099;refseq.name2=C17orf68;refseq.positionType=CDS;refseq.proteinCoordStr=p.I820V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-18;refseq.start=8075786;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr17 8098035 . C T 246.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.85;MQ0=0;OQ=11905.85;QD=41.92;RankSumP=1.00000;SB=-3944.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.55C>T;refseq.codonCoord=19;refseq.end=8098035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-88;refseq.start=8098035;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 8098256 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.190T>G;refseq.codonCoord=64;refseq.end=8098256;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.F64V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=48;refseq.start=8098256;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr17 8101874 . C T 255.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=98.65;MQ0=0;OQ=5154.93;QD=35.31;RankSumP=1.00000;SB=-2340.91;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1100C>T;refseq.codonCoord=367;refseq.end=8101874;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1241;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P367L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=25;refseq.start=8101874;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr17 8107223 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=5.12;MQ=98.88;MQ0=0;OQ=1410.20;QD=17.20;RankSumP=0.265851;SB=-530.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1482G>A;refseq.codonCoord=494;refseq.end=8107223;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1623;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.K494K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=72;refseq.start=8107223;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr17 8108302 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=8.81338e-09;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1839G>A;refseq.codonCoord=613;refseq.end=8108302;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1980;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q613Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=48;refseq.start=8108302;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr17 8108325 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=69;Dels=0.00;HRun=4;HaplotypeScore=7.45;MQ=96.36;MQ0=0;OQ=2101.34;QD=30.45;RankSumP=1.00000;SB=-574.91;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1862T>C;refseq.codonCoord=621;refseq.end=8108325;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L621P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-56;refseq.start=8108325;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 8108949 . T C 52.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=474.14;QD=33.87;RankSumP=1.00000;SB=-155.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2061T>C;refseq.codonCoord=687;refseq.end=8108949;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2202;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S687S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=12;refseq.start=8108949;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 8109640 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2503A>C;refseq.codonCoord=835;refseq.end=8109640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2644;refseq.name=NM_012393;refseq.name2=PFAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T835P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=42;refseq.start=8109640;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr17 8165001 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=17.62;MQ=98.53;MQ0=0;OQ=3030.36;QD=9.71;RankSumP=0.368349;SB=-1486.68;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2491T>C;refseq.codonCoord=831;refseq.end=8165001;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2612;refseq.name=NM_173728;refseq.name2=ARHGEF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S831P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=117;refseq.start=8165001;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr17 8184194 . T C 105.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.86;MQ0=0;OQ=2924.78;QD=13.93;RankSumP=0.0237608;SB=-1344.18;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.100T>C;refseq.codonCoord=34;refseq.end=8184194;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_153007;refseq.name2=ODF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.W34R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=282;refseq.start=8184194;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 8184386 . G A 138.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.58;MQ0=0;OQ=1186.38;QD=15.02;RankSumP=0.0647607;SB=-616.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.292G>A;refseq.codonCoord=98;refseq.end=8184386;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_153007;refseq.name2=ODF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V98M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-163;refseq.start=8184386;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr17 8184510 . A G 268.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=98.75;MQ0=0;OQ=2341.91;QD=15.11;RankSumP=0.464183;SB=-999.32;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.416A>G;refseq.codonCoord=139;refseq.end=8184510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=598;refseq.name=NM_153007;refseq.name2=ODF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y139C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-39;refseq.start=8184510;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr17 8357626 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=2;HaplotypeScore=16.38;MQ=97.71;MQ0=0;OQ=6459.08;QD=17.89;RankSumP=0.481424;SB=-1239.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2607G>A;refseq.codonCoord=869;refseq.end=8357626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2703;refseq.name=NM_005964;refseq.name2=MYH10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T869T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-46;refseq.start=8357626;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 8364995 . G A 444.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=98.48;MQ0=0;OQ=5575.37;QD=41.30;RankSumP=1.00000;SB=-2727.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2106C>T;refseq.codonCoord=702;refseq.end=8364995;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2202;refseq.name=NM_005964;refseq.name2=MYH10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N702N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=48;refseq.start=8364995;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr17 8587740 . G A 191.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=98.69;MQ0=0;OQ=2755.49;QD=16.40;RankSumP=0.313635;SB=-854.91;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.223C>T;refseq.codingCoordStr_2=c.223C>T;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.end_1=8587740;refseq.end_2=8587740;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=450;refseq.mrnaCoord_2=450;refseq.name2_1=CCDC42;refseq.name2_2=CCDC42;refseq.name_1=NM_001158261;refseq.name_2=NM_144681;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R75C;refseq.proteinCoordStr_2=p.R75C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=8587740;refseq.start_2=8587740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr17 8641841 . G A 167.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=6.04;MQ=98.93;MQ0=0;OQ=2622.68;QD=20.02;RankSumP=0.478295;SB=-919.67;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1323C>T;refseq.codonCoord=441;refseq.end=8641841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1552;refseq.name=NM_152599;refseq.name2=MFSD6L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L441L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-689;refseq.start=8641841;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr17 8642524 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=373;Dels=0.00;HRun=0;HaplotypeScore=15.19;MQ=98.47;MQ0=0;OQ=4969.70;QD=13.32;RankSumP=0.375510;SB=-1284.44;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.640C>A;refseq.codonCoord=214;refseq.end=8642524;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_152599;refseq.name2=MFSD6L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P214T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=869;refseq.start=8642524;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr17 8867427 . T C 10.28 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.28;SB=-10.00;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1012T>C;refseq.codonCoord=338;refseq.end=8867427;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_004822;refseq.name2=NTN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C338R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=8867427;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.27,-0.30,-0.00:1.76 chr17 9335956 . G A 420.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.89;MQ0=0;OQ=5389.58;QD=40.83;RankSumP=1.00000;SB=-1099.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.456C>T;refseq.codonCoord=152;refseq.end=9335956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=606;refseq.name=NM_004853;refseq.name2=STX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D152D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=9335956;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 9412436 . T G 329.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=2219.60;QD=35.80;RankSumP=1.00000;SB=-782.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.94A>C;refseq.codonCoord=32;refseq.end=9412436;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_004853;refseq.name2=STX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-24;refseq.start=9412436;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr17 9762125 . T C 64 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.65648e-08;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.1043A>G;refseq.codingCoordStr_2=c.815A>G;refseq.codingCoordStr_3=c.1055A>G;refseq.codingCoordStr_4=c.1235A>G;refseq.codonCoord_1=348;refseq.codonCoord_2=272;refseq.codonCoord_3=352;refseq.codonCoord_4=412;refseq.end_1=9762125;refseq.end_2=9762125;refseq.end_3=9762125;refseq.end_4=9762125;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1209;refseq.mrnaCoord_2=958;refseq.mrnaCoord_3=1366;refseq.mrnaCoord_4=1396;refseq.name2_1=GAS7;refseq.name2_2=GAS7;refseq.name2_3=GAS7;refseq.name2_4=GAS7;refseq.name_1=NM_001130831;refseq.name_2=NM_003644;refseq.name_3=NM_201432;refseq.name_4=NM_201433;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E348G;refseq.proteinCoordStr_2=p.E272G;refseq.proteinCoordStr_3=p.E352G;refseq.proteinCoordStr_4=p.E412G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.start_1=9762125;refseq.start_2=9762125;refseq.start_3=9762125;refseq.start_4=9762125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr17 9770709 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.796G>C;refseq.codingCoordStr_2=c.568G>C;refseq.codingCoordStr_3=c.808G>C;refseq.codingCoordStr_4=c.988G>C;refseq.codonCoord_1=266;refseq.codonCoord_2=190;refseq.codonCoord_3=270;refseq.codonCoord_4=330;refseq.end_1=9770709;refseq.end_2=9770709;refseq.end_3=9770709;refseq.end_4=9770709;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=962;refseq.mrnaCoord_2=711;refseq.mrnaCoord_3=1119;refseq.mrnaCoord_4=1149;refseq.name2_1=GAS7;refseq.name2_2=GAS7;refseq.name2_3=GAS7;refseq.name2_4=GAS7;refseq.name_1=NM_001130831;refseq.name_2=NM_003644;refseq.name_3=NM_201432;refseq.name_4=NM_201433;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A266P;refseq.proteinCoordStr_2=p.A190P;refseq.proteinCoordStr_3=p.A270P;refseq.proteinCoordStr_4=p.A330P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.spliceDist_4=-27;refseq.start_1=9770709;refseq.start_2=9770709;refseq.start_3=9770709;refseq.start_4=9770709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr17 9787246 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=661;Dels=0.00;HRun=1;HaplotypeScore=13.64;MQ=98.88;MQ0=0;OQ=13173.35;QD=19.93;RankSumP=0.483906;SB=-4926.07;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.456C>G;refseq.codingCoordStr_2=c.228C>G;refseq.codingCoordStr_3=c.468C>G;refseq.codingCoordStr_4=c.648C>G;refseq.codonCoord_1=152;refseq.codonCoord_2=76;refseq.codonCoord_3=156;refseq.codonCoord_4=216;refseq.end_1=9787246;refseq.end_2=9787246;refseq.end_3=9787246;refseq.end_4=9787246;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=622;refseq.mrnaCoord_2=371;refseq.mrnaCoord_3=779;refseq.mrnaCoord_4=809;refseq.name2_1=GAS7;refseq.name2_2=GAS7;refseq.name2_3=GAS7;refseq.name2_4=GAS7;refseq.name_1=NM_001130831;refseq.name_2=NM_003644;refseq.name_3=NM_201432;refseq.name_4=NM_201433;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T152T;refseq.proteinCoordStr_2=p.T76T;refseq.proteinCoordStr_3=p.T156T;refseq.proteinCoordStr_4=p.T216T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=9787246;refseq.start_2=9787246;refseq.start_3=9787246;refseq.start_4=9787246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr17 10259361 . A G 214.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=98.51;MQ0=0;OQ=9063.78;QD=36.26;RankSumP=1.00000;SB=-4156.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.714T>C;refseq.codonCoord=238;refseq.end=10259361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=809;refseq.name=NM_002472;refseq.name2=MYH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T238T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-28;refseq.start=10259361;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 10287506 . T C 178.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=516;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.64;MQ0=0;OQ=18713.42;QD=36.27;RankSumP=1.00000;SB=-7805.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.5731A>G;refseq.codonCoord=1911;refseq.end=10287506;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5842;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1911E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=64;refseq.start=10287506;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 10289079 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=2;HaplotypeScore=11.88;MQ=70.68;MQ0=53;OQ=11546.80;QD=33.47;RankSumP=1.00000;SB=-5497.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.5405A>G;refseq.codonCoord=1802;refseq.end=10289079;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5516;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1802G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-62;refseq.start=10289079;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr17 10296096 . C T 255.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=7.27;MQ=96.78;MQ0=0;OQ=5408.44;QD=37.30;RankSumP=1.00000;SB=-2206.76;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3625G>A;refseq.codonCoord=1209;refseq.end=10296096;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3736;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1209K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-114;refseq.start=10296096;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr17 10296488 . T C 422.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=3623.94;QD=41.65;RankSumP=1.00000;SB=-1582.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3318A>G;refseq.codonCoord=1106;refseq.end=10296488;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3429;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1106M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-31;refseq.start=10296488;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr17 10304135 . A G 112.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=710;Dels=0.00;HRun=0;HaplotypeScore=9.02;MQ=91.36;MQ0=13;OQ=26925.76;QD=37.92;RankSumP=1.00000;SB=-8259.08;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1275T>C;refseq.codonCoord=425;refseq.end=10304135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N425N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=10304135;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 10308535 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.627A>C;refseq.codonCoord=209;refseq.end=10308535;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_017533;refseq.name2=MYH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E209D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-22;refseq.start=10308535;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr17 10340191 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=1.27889e-07;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4970C>A;refseq.codonCoord=1657;refseq.end=10340191;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5064;refseq.name=NM_005963;refseq.name2=MYH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1657N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=10340191;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr17 10356565 . A G 306.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=97.40;MQ0=0;OQ=15551.04;QD=41.36;RankSumP=1.00000;SB=-5374.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1032T>C;refseq.codonCoord=344;refseq.end=10356565;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1126;refseq.name=NM_005963;refseq.name2=MYH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F344F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=24;refseq.start=10356565;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr17 10368649 . G A 193.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=5.90;MQ=71.20;MQ0=62;OQ=5186.89;QD=24.94;RankSumP=1.00000;SB=-1322.19;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.5034C>T;refseq.codingCoordStr_2=c.5034C>T;refseq.codonCoord_1=1678;refseq.codonCoord_2=1678;refseq.end_1=10368649;refseq.end_2=10368649;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5162;refseq.mrnaCoord_2=5162;refseq.name2_1=MYH2;refseq.name2_2=MYH2;refseq.name_1=NM_001100112;refseq.name_2=NM_017534;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1678A;refseq.proteinCoordStr_2=p.A1678A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=10368649;refseq.start_2=10368649;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr17 10389494 . A T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=410;Dels=0.00;HRun=0;HaplotypeScore=14.85;MQ=95.82;MQ0=3;OQ=12403.09;QD=30.25;RankSumP=1.00000;SB=-1678.11;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.399T>A;refseq.codingCoordStr_2=c.399T>A;refseq.codonCoord_1=133;refseq.codonCoord_2=133;refseq.end_1=10389494;refseq.end_2=10389494;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=527;refseq.mrnaCoord_2=527;refseq.name2_1=MYH2;refseq.name2_2=MYH2;refseq.name_1=NM_001100112;refseq.name_2=NM_017534;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P133P;refseq.proteinCoordStr_2=p.P133P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=10389494;refseq.start_2=10389494;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr17 10391541 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=1069;Dels=0.00;HRun=0;HaplotypeScore=28.61;MQ=97.59;MQ0=0;OQ=40255.32;QD=37.66;RankSumP=1.00000;SB=-19437.26;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.324A>G;refseq.codingCoordStr_2=c.324A>G;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.end_1=10391541;refseq.end_2=10391541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=452;refseq.mrnaCoord_2=452;refseq.name2_1=MYH2;refseq.name2_2=MYH2;refseq.name_1=NM_001100112;refseq.name_2=NM_017534;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E108E;refseq.proteinCoordStr_2=p.E108E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=10391541;refseq.start_2=10391541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap-filterIngatk GT 1/1 chr17 10476743 . G A 239.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=99.00;MQ0=0;OQ=1794.75;QD=40.79;RankSumP=1.00000;SB=-432.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4731C>T;refseq.codonCoord=1577;refseq.end=10476743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4798;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1577I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=84;refseq.start=10476743;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr17 10482240 . C T 345.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=95.97;MQ0=0;OQ=6034.15;QD=37.71;RankSumP=1.00000;SB=-1616.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3574G>A;refseq.codonCoord=1192;refseq.end=10482240;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3641;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1192T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-156;refseq.start=10482240;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 10483196 . T G 299.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=8.58;MQ=98.75;MQ0=0;OQ=11496.91;QD=37.82;RankSumP=1.00000;SB=-4821.88;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3138A>C;refseq.codonCoord=1046;refseq.end=10483196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3205;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1046R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=36;refseq.start=10483196;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr17 10483490 . A G 231.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=2938.61;QD=36.28;RankSumP=1.00000;SB=-963.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2952T>C;refseq.codonCoord=984;refseq.end=10483490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3019;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S984S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=27;refseq.start=10483490;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 10483611 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=828;Dels=0.00;HRun=1;HaplotypeScore=12.53;MQ=97.86;MQ0=0;OQ=32288.32;QD=39.00;RankSumP=1.00000;SB=-11570.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2916A>G;refseq.codonCoord=972;refseq.end=10483611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2983;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T972T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=10483611;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 10484188 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=92.23;MQ0=3;OQ=13850.61;QD=37.74;RankSumP=1.00000;SB=-6222.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2532A>G;refseq.codonCoord=844;refseq.end=10484188;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2599;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A844A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=106;refseq.start=10484188;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr17 10485141 . G T 203.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=507;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.89;MQ0=0;OQ=20041.83;QD=39.53;RankSumP=1.00000;SB=-8498.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2151C>A;refseq.codonCoord=717;refseq.end=10485141;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G717G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-15;refseq.start=10485141;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 10495662 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=3.63218e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.397C>G;refseq.codonCoord=133;refseq.end=10495662;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_002470;refseq.name2=MYH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=49;refseq.start=10495662;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr17 10539814 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.333A>G;refseq.codonCoord=111;refseq.end=10539814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_004589;refseq.name2=SCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G111G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-32;refseq.start=10539814;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 11452182 . C T 89.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=438.76;QD=21.94;RankSumP=0.0356037;SB=-42.64;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.429C>T;refseq.codonCoord=143;refseq.end=11452182;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P143P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=12;refseq.start=11452182;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr17 11454532 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=244;Dels=0.00;HRun=3;HaplotypeScore=12.47;MQ=98.39;MQ0=0;OQ=90.95;QD=0.37;RankSumP=0.00000;SB=278.96;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.709T>C;refseq.codonCoord=237;refseq.end=11454532;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S237P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-65;refseq.start=11454532;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 11463807 . A G 310.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=1949.98;QD=36.11;RankSumP=1.00000;SB=-416.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1334A>G;refseq.codonCoord=445;refseq.end=11463807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q445R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-17;refseq.start=11463807;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr17 11473560 . A G 278.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=98.71;MQ0=0;OQ=4668.32;QD=19.29;RankSumP=0.255134;SB=-1833.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1452A>G;refseq.codonCoord=484;refseq.end=11473560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1520;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E484E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-67;refseq.start=11473560;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 11523814 . T C 301.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=98.45;MQ0=0;OQ=16675.40;QD=38.25;RankSumP=1.00000;SB=-5512.19;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3369T>C;refseq.codonCoord=1123;refseq.end=11523814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3437;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1123D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=16;refseq.start=11523814;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr17 11523909 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3464T>G;refseq.codonCoord=1155;refseq.end=11523909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3532;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1155G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=111;refseq.start=11523909;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr17 11589057 . C T 113.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=270;Dels=0.00;HRun=2;HaplotypeScore=7.88;MQ=98.92;MQ0=0;OQ=5999.52;QD=22.22;RankSumP=0.0507491;SB=-1671.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.6330C>T;refseq.codonCoord=2110;refseq.end=11589057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6398;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2110N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-70;refseq.start=11589057;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr17 11591782 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.97;MQ0=0;OQ=1752.64;QD=8.90;RankSumP=0.253246;SB=-859.36;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.6584A>G;refseq.codonCoord=2195;refseq.end=11591782;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6652;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2195S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-27;refseq.start=11591782;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 11698281 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=583;Dels=0.00;HRun=1;HaplotypeScore=10.70;MQ=98.74;MQ0=0;OQ=9755.49;QD=16.73;RankSumP=0.279798;SB=-3353.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.9744C>G;refseq.codonCoord=3248;refseq.end=11698281;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9812;refseq.name=NM_001372;refseq.name2=DNAH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3248P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-190;refseq.start=11698281;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr17 11727676 . T C 325.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=12.48;MQ=98.69;MQ0=0;OQ=4752.51;QD=19.40;RankSumP=0.224250;SB=-1698.84;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.10855T>C;refseq.codingCoordStr_2=c.-210T>C;refseq.codonCoord_1=3619;refseq.end_1=11727676;refseq.end_2=11727676;refseq.frame_1=0;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=10923;refseq.mrnaCoord_2=320;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.L3619L;refseq.referenceAA_1=Leu;refseq.referenceCodon_1=TTG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=11727676;refseq.start_2=11727676;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTG;set=Intersection GT 1/0 chr17 11749784 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.11682A>C;refseq.codingCoordStr_2=c.618A>C;refseq.codonCoord_1=3894;refseq.codonCoord_2=206;refseq.end_1=11749784;refseq.end_2=11749784;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=11750;refseq.mrnaCoord_2=1147;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G3894G;refseq.proteinCoordStr_2=p.G206G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=11749784;refseq.start_2=11749784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr17 11774012 . A G 190.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=7.63;MQ=98.61;MQ0=0;OQ=2289.46;QD=15.68;RankSumP=0.0300385;SB=-1027.93;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.11982A>G;refseq.codingCoordStr_2=c.918A>G;refseq.codonCoord_1=3994;refseq.codonCoord_2=306;refseq.end_1=11774012;refseq.end_2=11774012;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12050;refseq.mrnaCoord_2=1447;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P3994P;refseq.proteinCoordStr_2=p.P306P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=11774012;refseq.start_2=11774012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr17 11774090 . G A 268.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=7.39;MQ=98.65;MQ0=0;OQ=4441.08;QD=18.90;RankSumP=0.0596962;SB=-1738.18;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.12060G>A;refseq.codingCoordStr_2=c.996G>A;refseq.codonCoord_1=4020;refseq.codonCoord_2=332;refseq.end_1=11774090;refseq.end_2=11774090;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12128;refseq.mrnaCoord_2=1525;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T4020T;refseq.proteinCoordStr_2=p.T332T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=11774090;refseq.start_2=11774090;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr17 11776056 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=1259.12;QD=19.99;RankSumP=0.436809;SB=-370.33;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.12106G>A;refseq.codingCoordStr_2=c.1042G>A;refseq.codonCoord_1=4036;refseq.codonCoord_2=348;refseq.end_1=11776056;refseq.end_2=11776056;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=12174;refseq.mrnaCoord_2=1571;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D4036N;refseq.proteinCoordStr_2=p.D348N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=11776056;refseq.start_2=11776056;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr17 11806187 . G A 264.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=13.61;MQ=98.72;MQ0=0;OQ=4202.99;QD=17.89;RankSumP=0.203213;SB=-1100.31;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.13122G>A;refseq.codingCoordStr_2=c.2058G>A;refseq.codonCoord_1=4374;refseq.codonCoord_2=686;refseq.end_1=11806187;refseq.end_2=11806187;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=13190;refseq.mrnaCoord_2=2587;refseq.name2_1=DNAH9;refseq.name2_2=DNAH9;refseq.name_1=NM_001372;refseq.name_2=NM_004662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M4374I;refseq.proteinCoordStr_2=p.M686I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-112;refseq.spliceDist_2=-112;refseq.start_1=11806187;refseq.start_2=11806187;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr17 12596955 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1625T>G;refseq.codingCoordStr_2=c.1337T>G;refseq.codingCoordStr_3=c.1625T>G;refseq.codonCoord_1=542;refseq.codonCoord_2=446;refseq.codonCoord_3=542;refseq.end_1=12596955;refseq.end_2=12596955;refseq.end_3=12596955;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1924;refseq.mrnaCoord_2=1545;refseq.mrnaCoord_3=1924;refseq.name2_1=MYOCD;refseq.name2_2=MYOCD;refseq.name2_3=MYOCD;refseq.name_1=NM_001146312;refseq.name_2=NM_001146313;refseq.name_3=NM_153604;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V542G;refseq.proteinCoordStr_2=p.V446G;refseq.proteinCoordStr_3=p.V542G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-434;refseq.spliceDist_2=-434;refseq.spliceDist_3=-434;refseq.start_1=12596955;refseq.start_2=12596955;refseq.start_3=12596955;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 12597142 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=13.47;MQ=98.62;MQ0=0;OQ=1512.62;QD=11.82;RankSumP=0.251308;SB=-322.64;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1812T>C;refseq.codingCoordStr_2=c.1524T>C;refseq.codingCoordStr_3=c.1812T>C;refseq.codonCoord_1=604;refseq.codonCoord_2=508;refseq.codonCoord_3=604;refseq.end_1=12597142;refseq.end_2=12597142;refseq.end_3=12597142;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2111;refseq.mrnaCoord_2=1732;refseq.mrnaCoord_3=2111;refseq.name2_1=MYOCD;refseq.name2_2=MYOCD;refseq.name2_3=MYOCD;refseq.name_1=NM_001146312;refseq.name_2=NM_001146313;refseq.name_3=NM_153604;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A604A;refseq.proteinCoordStr_2=p.A508A;refseq.proteinCoordStr_3=p.A604A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-247;refseq.spliceDist_2=-247;refseq.spliceDist_3=-247;refseq.start_1=12597142;refseq.start_2=12597142;refseq.start_3=12597142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr17 13340341 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=12.25;MQ=37.80;MQ0=349;OQ=1028.01;QD=2.44;RankSumP=0.496691;SB=-10.00;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1119T>A;refseq.codonCoord=373;refseq.end=13340341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1917;refseq.name=NM_006042;refseq.name2=HS3ST3A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P373P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=520;refseq.start=13340341;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr17 13946164 . G A 265.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=479;Dels=0.00;HRun=0;HaplotypeScore=13.65;MQ=98.61;MQ0=0;OQ=9588.51;QD=20.02;RankSumP=0.000168058;SB=-3641.35;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.504G>A;refseq.codonCoord=168;refseq.end=13946164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_001303;refseq.name2=COX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L168L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=13946164;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=filterInsoap-gatk GT 1/0 chr17 14036034 . A G 143.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=86.09;MQ0=11;OQ=4391.23;QD=14.64;RankSumP=0.229843;SB=-1195.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.699A>G;refseq.codonCoord=233;refseq.end=14036034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=903;refseq.name=NM_001303;refseq.name2=COX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P233P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=14036034;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr17 14051176 . A C 83 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=2;RankSumP=5.08908e-09;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1253A>C;refseq.codonCoord=418;refseq.end=14051176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1457;refseq.name=NM_001303;refseq.name2=COX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H418P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=325;refseq.start=14051176;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 14080039 . G A 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.426C>T;refseq.codonCoord=142;refseq.end=14080039;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_001007530;refseq.name2=CDRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S142S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=15;refseq.start=14080039;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/0 chr17 14080616 rs4791565 A C 103.81 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=18.10;MQ0=19;OQ=560.18;QD=14.00;SB=-294.99;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.260T>G;refseq.codonCoord=87;refseq.end=14080616;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_001007530;refseq.name2=CDRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L87R;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=14080616;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=gatk GT:AD:DP:GL:GQ 1/1:0,40:16:-59.61,-4.82,-0.00:48.15 chr17 14080805 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=88.45;MQ=30.19;MQ0=112;OQ=2226.63;QD=8.60;RankSumP=0.439185;SB=-769.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.71G>A;refseq.codonCoord=24;refseq.end=14080805;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=71;refseq.name=NM_001007530;refseq.name2=CDRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=71;refseq.start=14080805;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap-filterIngatk GT 0/1 chr17 14080806 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=87.94;MQ=29.79;MQ0=119;OQ=539.70;QD=2.03;RankSumP=0.113824;SB=77.28;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.70C>T;refseq.codonCoord=24;refseq.end=14080806;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_001007530;refseq.name2=CDRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=70;refseq.start=14080806;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap-filterIngatk GT 1/0 chr17 14080828 . A G 388.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=33.30;MQ0=185;OQ=6413.47;QD=16.57;RankSumP=1.00000;SB=-1399.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.48T>C;refseq.codonCoord=16;refseq.end=14080828;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=48;refseq.name=NM_001007530;refseq.name2=CDRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.N16N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=48;refseq.start=14080828;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 14189101 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=89.52;MQ0=10;OQ=1702.92;QD=12.52;RankSumP=0.480597;SB=-831.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.586A>G;refseq.codonCoord=196;refseq.end=14189101;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_006041;refseq.name2=HS3ST3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I196V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=32;refseq.start=14189101;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 14189148 . T C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=4;HaplotypeScore=1.27;MQ=87.22;MQ0=2;OQ=1460.42;QD=31.07;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.633T>C;refseq.codonCoord=211;refseq.end=14189148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_006041;refseq.name2=HS3ST3B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P211P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=79;refseq.start=14189148;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr17 14614230 . A C 11.90 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=237;Dels=0.00;HRun=3;HaplotypeScore=19.07;MQ=97.94;MQ0=0;QD=0.05;RankSumP=0.00000;SB=396.30;SecondBestBaseQ=15;set=FilteredInAll GT 0/1 chr17 14614262 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;set=FilteredInAll GT 1/0 chr17 15148089 . T G 212.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=1;HaplotypeScore=8.04;MQ=98.82;MQ0=0;OQ=12382.13;QD=36.96;RankSumP=1.00000;SB=-4805.61;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1362A>C;refseq.codonCoord=454;refseq.end=15148089;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1549;refseq.name=NM_031898;refseq.name2=TEKT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T454T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=106;refseq.start=15148089;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 15158162 . C G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=372;Dels=0.00;HRun=1;HaplotypeScore=9.12;MQ=98.55;MQ0=0;OQ=17020.31;QD=45.75;RankSumP=1.00000;SB=-8260.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.845G>C;refseq.codonCoord=282;refseq.end=15158162;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_031898;refseq.name2=TEKT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G282A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-34;refseq.start=15158162;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 15284256 . T C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.0343407;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.22A>G;refseq.codonCoord=8;refseq.end=15284256;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_173622;refseq.name2=CDRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K8E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=15284256;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr17 15284257 . C T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.260440;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.21G>A;refseq.codonCoord=7;refseq.end=15284257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_173622;refseq.name2=CDRT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K7K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=15284257;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chr17 15389822 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.462+2;refseq.codingCoordStr_2=c.462+2;refseq.end_1=15389822;refseq.end_2=15389822;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=FAM18B2;refseq.name2_2=FAM18B2;refseq.name_1=NM_001135036;refseq.name_2=NM_145301;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=15389822;refseq.start_2=15389822;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr17 15397766 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.491614;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.198T>G;refseq.codingCoordStr_2=c.198T>G;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.end_1=15397766;refseq.end_2=15397766;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=381;refseq.mrnaCoord_2=381;refseq.name2_1=FAM18B2;refseq.name2_2=FAM18B2;refseq.name_1=NM_001135036;refseq.name_2=NM_145301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V66V;refseq.proteinCoordStr_2=p.V66V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=15397766;refseq.start_2=15397766;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 0/1 chr17 15397812 . C T 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0750787;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.152G>A;refseq.codingCoordStr_2=c.152G>A;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.end_1=15397812;refseq.end_2=15397812;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=335;refseq.mrnaCoord_2=335;refseq.name2_1=FAM18B2;refseq.name2_2=FAM18B2;refseq.name_1=NM_001135036;refseq.name_2=NM_145301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C51Y;refseq.proteinCoordStr_2=p.C51Y;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=15397812;refseq.start_2=15397812;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=soap GT 0/1 chr17 15472872 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=42.30;MQ0=92;OQ=1173.15;QD=4.41;RankSumP=0.168813;SB=-427.16;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1477C>T;refseq.codonCoord=493;refseq.end=15472872;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2034;refseq.name=NM_006470;refseq.name2=TRIM16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R493W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=366;refseq.start=15472872;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr17 15476662 . C T 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.586247;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.901G>A;refseq.codonCoord=301;refseq.end=15476662;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1458;refseq.name=NM_006470;refseq.name2=TRIM16;refseq.positionType=CDS;refseq.proteinCoordStr=p.V301I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=52;refseq.start=15476662;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr17 15480285 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.472738;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.639G>A;refseq.codonCoord=213;refseq.end=15480285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_006470;refseq.name2=TRIM16;refseq.positionType=CDS;refseq.proteinCoordStr=p.A213A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=24;refseq.start=15480285;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr17 15560255 . T G 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.274370;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.492T>G;refseq.codingCoordStr_2=c.492T>G;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.end_1=15560255;refseq.end_2=15560255;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=975;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N164K;refseq.proteinCoordStr_2=p.N164K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=158;refseq.spliceDist_2=158;refseq.start_1=15560255;refseq.start_2=15560255;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=soap GT 1/0 chr17 15560331 . A G 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.518207;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.568A>G;refseq.codingCoordStr_2=c.568A>G;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=15560331;refseq.end_2=15560331;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=1051;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K190E;refseq.proteinCoordStr_2=p.K190E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=234;refseq.spliceDist_2=234;refseq.start_1=15560331;refseq.start_2=15560331;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 0/1 chr17 15560664 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.470011;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.901A>C;refseq.codingCoordStr_2=c.901A>C;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.end_1=15560664;refseq.end_2=15560664;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1297;refseq.mrnaCoord_2=1384;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S301R;refseq.proteinCoordStr_2=p.S301R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=567;refseq.spliceDist_2=567;refseq.start_1=15560664;refseq.start_2=15560664;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT 0/1 chr17 15560672 . C T 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.456038;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.909C>T;refseq.codingCoordStr_2=c.909C>T;refseq.codonCoord_1=303;refseq.codonCoord_2=303;refseq.end_1=15560672;refseq.end_2=15560672;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1305;refseq.mrnaCoord_2=1392;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C303C;refseq.proteinCoordStr_2=p.C303C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=575;refseq.spliceDist_2=575;refseq.start_1=15560672;refseq.start_2=15560672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap GT 0/1 chr17 15560818 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.302380;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1055A>G;refseq.codingCoordStr_2=c.1055A>G;refseq.codonCoord_1=352;refseq.codonCoord_2=352;refseq.end_1=15560818;refseq.end_2=15560818;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1451;refseq.mrnaCoord_2=1538;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K352R;refseq.proteinCoordStr_2=p.K352R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=721;refseq.spliceDist_2=721;refseq.start_1=15560818;refseq.start_2=15560818;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=soap GT 0/1 chr17 15561085 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.138629;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1322A>G;refseq.codingCoordStr_2=c.1322A>G;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.end_1=15561085;refseq.end_2=15561085;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1718;refseq.mrnaCoord_2=1805;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N441S;refseq.proteinCoordStr_2=p.N441S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=988;refseq.spliceDist_2=988;refseq.start_1=15561085;refseq.start_2=15561085;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chr17 15561109 . G A 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.249682;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1346G>A;refseq.codingCoordStr_2=c.1346G>A;refseq.codonCoord_1=449;refseq.codonCoord_2=449;refseq.end_1=15561109;refseq.end_2=15561109;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1742;refseq.mrnaCoord_2=1829;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R449Q;refseq.proteinCoordStr_2=p.R449Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=1012;refseq.spliceDist_2=1012;refseq.start_1=15561109;refseq.start_2=15561109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 1/0 chr17 15561206 . C T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.442308;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1443C>T;refseq.codingCoordStr_2=c.1443C>T;refseq.codonCoord_1=481;refseq.codonCoord_2=481;refseq.end_1=15561206;refseq.end_2=15561206;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1839;refseq.mrnaCoord_2=1926;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L481L;refseq.proteinCoordStr_2=p.L481L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=1109;refseq.spliceDist_2=1109;refseq.start_1=15561206;refseq.start_2=15561206;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=FilteredInAll GT 0/1 chr17 15561229 . C G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1466C>G;refseq.codingCoordStr_2=c.1466C>G;refseq.codonCoord_1=489;refseq.codonCoord_2=489;refseq.end_1=15561229;refseq.end_2=15561229;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1862;refseq.mrnaCoord_2=1949;refseq.name2_1=ZNF286A;refseq.name2_2=ZNF286A;refseq.name_1=NM_001130842;refseq.name_2=NM_020652;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T489S;refseq.proteinCoordStr_2=p.T489S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=1132;refseq.spliceDist_2=1132;refseq.start_1=15561229;refseq.start_2=15561229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=soap GT 1/0 chr17 15843684 . G A 16.38 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=97.42;MQ0=0;QD=0.96;SB=-33.61;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.-51C>T;refseq.codingCoordStr_2=c.-51C>T;refseq.codingCoordStr_3=c.160G>A;refseq.codonCoord_3=54;refseq.end_1=15843684;refseq.end_2=15843684;refseq.end_3=15843684;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=48;refseq.mrnaCoord_2=48;refseq.mrnaCoord_3=178;refseq.name2_1=ZSWIM7;refseq.name2_2=ZSWIM7;refseq.name2_3=TTC19;refseq.name_1=NM_001042697;refseq.name_2=NM_001042698;refseq.name_3=NM_017775;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A54T;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=178;refseq.start_1=15843684;refseq.start_2=15843684;refseq.start_3=15843684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,2:12:-8.53,-3.62,-36.85:49.12 chr17 16002859 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=281;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.84;MQ0=0;OQ=5710.98;QD=20.32;RankSumP=0.0404119;SB=-2366.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.672C>G;refseq.codonCoord=224;refseq.end=16002859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S224S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=54;refseq.start=16002859;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr17 16009065 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=3;HaplotypeScore=2.47;MQ=29.36;MQ0=55;OQ=70.99;QD=0.64;SB=56.22;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.571G>A;refseq.codonCoord=191;refseq.end=16009065;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E191K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-48;refseq.start=16009065;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:98,13:51:-25.74,-15.36,-187.19:99 chr17 16009068 . G A 31.04 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=27.44;MQ0=55;QD=0.28;SB=53.19;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.568C>T;refseq.codonCoord=190;refseq.end=16009068;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R190*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-51;refseq.start=16009068;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:100,12:52:-22.05,-15.66,-174.94:63.87 chr17 16009102 . C G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=5.99;MQ=32.77;MQ0=32;OQ=121.37;QD=1.17;SB=37.85;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.534G>C;refseq.codonCoord=178;refseq.end=16009102;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K178N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-85;refseq.start=16009102;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:89,15:70:-36.50,-21.08,-311.38:99 chr17 16009108 . G A 15 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=104;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=31.93;MQ0=29;OQ=129.33;QD=1.24;RankSumP=0.437434;SB=44.77;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.528C>T;refseq.codonCoord=176;refseq.end=16009108;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L176L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-91;refseq.start=16009108;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT 1/0 chr17 16009121 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=111;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=33.29;MQ0=37;OQ=335.18;QD=3.02;RankSumP=0.701295;SB=3.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.515C>T;refseq.codonCoord=172;refseq.end=16009121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S172L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=80;refseq.start=16009121;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=soap-filterIngatk GT 1/0 chr17 16009188 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=19.30;MQ=39.59;MQ0=41;OQ=473.05;QD=2.70;RankSumP=0.456512;SB=-190.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.448G>A;refseq.codonCoord=150;refseq.end=16009188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G150R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=13;refseq.start=16009188;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr17 16009189 . G A 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.232351;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.447C>T;refseq.codonCoord=149;refseq.end=16009189;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F149F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=12;refseq.start=16009189;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap GT 1/0 chr17 16038550 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=89.64;MQ0=2;OQ=363.77;QD=2.89;SB=-92.89;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.59A>C;refseq.codonCoord=20;refseq.end=16038550;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y20S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-50;refseq.start=16038550;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:103,23:102:-70.39,-30.73,-304.54:99 chr17 16038595 . C A 0.04 PASS AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=81.41;MQ0=4;OQ=828.53;QD=7.97;SB=-415.56;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.14G>T;refseq.codonCoord=5;refseq.end=16038595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_006311;refseq.name2=NCOR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G5V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=84;refseq.start=16038595;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=gatk GT:AD:DP:GL:GQ 0/1:65,39:89:-112.93,-26.80,-248.71:99 chr17 16266693 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.76;MQ0=0;OQ=1094.65;QD=17.66;RankSumP=0.0486100;SB=-308.52;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.390A>G;refseq.codonCoord=130;refseq.end=16266693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_016113;refseq.name2=TRPV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G130G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=56;refseq.start=16266693;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr17 16266730 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=452.05;QD=12.92;RankSumP=0.644564;SB=-75.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.427A>C;refseq.codonCoord=143;refseq.end=16266730;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_016113;refseq.name2=TRPV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R143R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=93;refseq.start=16266730;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr17 16277717 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.97;MQ0=0;OQ=1544.65;QD=17.36;RankSumP=0.257345;SB=-376.14;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2094C>G;refseq.codonCoord=698;refseq.end=16277717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2461;refseq.name=NM_016113;refseq.name2=TRPV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P698P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-21;refseq.start=16277717;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr17 16285325 . T C 352.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.45;MQ0=0;OQ=4363.30;QD=20.68;RankSumP=0.493061;SB=-1747.21;SecondBestBaseQ=33;refseq.chr_1=chr17;refseq.chr_10=chr17;refseq.chr_11=chr17;refseq.chr_12=chr17;refseq.chr_13=chr17;refseq.chr_14=chr17;refseq.chr_15=chr17;refseq.chr_16=chr17;refseq.chr_17=chr17;refseq.chr_18=chr17;refseq.chr_19=chr17;refseq.chr_2=chr17;refseq.chr_20=chr17;refseq.chr_21=chr17;refseq.chr_22=chr17;refseq.chr_23=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.chr_8=chr17;refseq.chr_9=chr17;refseq.end_1=16285396;refseq.end_10=16285396;refseq.end_11=16285396;refseq.end_12=16285396;refseq.end_13=16285396;refseq.end_14=16285396;refseq.end_15=16285396;refseq.end_16=16306861;refseq.end_17=16306861;refseq.end_18=16306861;refseq.end_19=16306861;refseq.end_2=16285396;refseq.end_20=16314330;refseq.end_21=16314330;refseq.end_22=16314330;refseq.end_23=16285325;refseq.end_3=16285396;refseq.end_4=16285396;refseq.end_5=16285396;refseq.end_6=16304921;refseq.end_7=16285396;refseq.end_8=16285396;refseq.end_9=16285396;refseq.haplotypeAlternate_23=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=*;refseq.haplotypeReference_23=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.mrnaCoord_23=61;refseq.name2_1=NCRNA00188;refseq.name2_10=NCRNA00188;refseq.name2_11=NCRNA00188;refseq.name2_12=NCRNA00188;refseq.name2_13=NCRNA00188;refseq.name2_14=NCRNA00188;refseq.name2_15=NCRNA00188;refseq.name2_16=NCRNA00188;refseq.name2_17=NCRNA00188;refseq.name2_18=NCRNA00188;refseq.name2_19=NCRNA00188;refseq.name2_2=NCRNA00188;refseq.name2_20=NCRNA00188;refseq.name2_21=NCRNA00188;refseq.name2_22=NCRNA00188;refseq.name2_23=SNORD65;refseq.name2_3=NCRNA00188;refseq.name2_4=NCRNA00188;refseq.name2_5=NCRNA00188;refseq.name2_6=NCRNA00188;refseq.name2_7=NCRNA00188;refseq.name2_8=NCRNA00188;refseq.name2_9=NCRNA00188;refseq.name_1=NR_027158;refseq.name_10=NR_027163;refseq.name_11=NR_027164;refseq.name_12=NR_027166;refseq.name_13=NR_027168;refseq.name_14=NR_027170;refseq.name_15=NR_027667;refseq.name_16=NR_027173;refseq.name_17=NR_027174;refseq.name_18=NR_027177;refseq.name_19=NR_027178;refseq.name_2=NR_027161;refseq.name_20=NR_027171;refseq.name_21=NR_027172;refseq.name_22=NR_027175;refseq.name_23=NR_003054;refseq.name_3=NR_027165;refseq.name_4=NR_027167;refseq.name_5=NR_027169;refseq.name_6=NR_027176;refseq.name_7=NR_027159;refseq.name_8=NR_027160;refseq.name_9=NR_027162;refseq.numMatchingRecords=23;refseq.positionType_1=non_coding_intron;refseq.positionType_10=non_coding_intron;refseq.positionType_11=non_coding_intron;refseq.positionType_12=non_coding_intron;refseq.positionType_13=non_coding_intron;refseq.positionType_14=non_coding_intron;refseq.positionType_15=non_coding_intron;refseq.positionType_16=non_coding_intron;refseq.positionType_17=non_coding_intron;refseq.positionType_18=non_coding_intron;refseq.positionType_19=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_20=non_coding_intron;refseq.positionType_21=non_coding_intron;refseq.positionType_22=non_coding_intron;refseq.positionType_23=non_coding_exon;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=non_coding_intron;refseq.positionType_7=non_coding_intron;refseq.positionType_8=non_coding_intron;refseq.positionType_9=non_coding_intron;refseq.spliceDist_23=-13;refseq.start_1=16284303;refseq.start_10=16285180;refseq.start_11=16285180;refseq.start_12=16285180;refseq.start_13=16285180;refseq.start_14=16285180;refseq.start_15=16285180;refseq.start_16=16285180;refseq.start_17=16285180;refseq.start_18=16285180;refseq.start_19=16285180;refseq.start_2=16284303;refseq.start_20=16285180;refseq.start_21=16285180;refseq.start_22=16285180;refseq.start_23=16285325;refseq.start_3=16284303;refseq.start_4=16284303;refseq.start_5=16284303;refseq.start_6=16284303;refseq.start_7=16285180;refseq.start_8=16285180;refseq.start_9=16285180;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;set=Intersection GT 1/0 chr17 16285326 . G C 285.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.45;MQ0=0;OQ=4874.44;QD=23.10;RankSumP=0.405661;SB=-2122.45;SecondBestBaseQ=33;refseq.chr_1=chr17;refseq.chr_10=chr17;refseq.chr_11=chr17;refseq.chr_12=chr17;refseq.chr_13=chr17;refseq.chr_14=chr17;refseq.chr_15=chr17;refseq.chr_16=chr17;refseq.chr_17=chr17;refseq.chr_18=chr17;refseq.chr_19=chr17;refseq.chr_2=chr17;refseq.chr_20=chr17;refseq.chr_21=chr17;refseq.chr_22=chr17;refseq.chr_23=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.chr_8=chr17;refseq.chr_9=chr17;refseq.end_1=16285396;refseq.end_10=16285396;refseq.end_11=16285396;refseq.end_12=16285396;refseq.end_13=16285396;refseq.end_14=16285396;refseq.end_15=16285396;refseq.end_16=16306861;refseq.end_17=16306861;refseq.end_18=16306861;refseq.end_19=16306861;refseq.end_2=16285396;refseq.end_20=16314330;refseq.end_21=16314330;refseq.end_22=16314330;refseq.end_23=16285326;refseq.end_3=16285396;refseq.end_4=16285396;refseq.end_5=16285396;refseq.end_6=16304921;refseq.end_7=16285396;refseq.end_8=16285396;refseq.end_9=16285396;refseq.haplotypeAlternate_23=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_10=*;refseq.haplotypeReference_11=*;refseq.haplotypeReference_12=*;refseq.haplotypeReference_13=*;refseq.haplotypeReference_14=*;refseq.haplotypeReference_15=*;refseq.haplotypeReference_16=*;refseq.haplotypeReference_17=*;refseq.haplotypeReference_18=*;refseq.haplotypeReference_19=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_20=*;refseq.haplotypeReference_21=*;refseq.haplotypeReference_22=*;refseq.haplotypeReference_23=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=*;refseq.haplotypeReference_8=*;refseq.haplotypeReference_9=*;refseq.mrnaCoord_23=62;refseq.name2_1=NCRNA00188;refseq.name2_10=NCRNA00188;refseq.name2_11=NCRNA00188;refseq.name2_12=NCRNA00188;refseq.name2_13=NCRNA00188;refseq.name2_14=NCRNA00188;refseq.name2_15=NCRNA00188;refseq.name2_16=NCRNA00188;refseq.name2_17=NCRNA00188;refseq.name2_18=NCRNA00188;refseq.name2_19=NCRNA00188;refseq.name2_2=NCRNA00188;refseq.name2_20=NCRNA00188;refseq.name2_21=NCRNA00188;refseq.name2_22=NCRNA00188;refseq.name2_23=SNORD65;refseq.name2_3=NCRNA00188;refseq.name2_4=NCRNA00188;refseq.name2_5=NCRNA00188;refseq.name2_6=NCRNA00188;refseq.name2_7=NCRNA00188;refseq.name2_8=NCRNA00188;refseq.name2_9=NCRNA00188;refseq.name_1=NR_027158;refseq.name_10=NR_027163;refseq.name_11=NR_027164;refseq.name_12=NR_027166;refseq.name_13=NR_027168;refseq.name_14=NR_027170;refseq.name_15=NR_027667;refseq.name_16=NR_027173;refseq.name_17=NR_027174;refseq.name_18=NR_027177;refseq.name_19=NR_027178;refseq.name_2=NR_027161;refseq.name_20=NR_027171;refseq.name_21=NR_027172;refseq.name_22=NR_027175;refseq.name_23=NR_003054;refseq.name_3=NR_027165;refseq.name_4=NR_027167;refseq.name_5=NR_027169;refseq.name_6=NR_027176;refseq.name_7=NR_027159;refseq.name_8=NR_027160;refseq.name_9=NR_027162;refseq.numMatchingRecords=23;refseq.positionType_1=non_coding_intron;refseq.positionType_10=non_coding_intron;refseq.positionType_11=non_coding_intron;refseq.positionType_12=non_coding_intron;refseq.positionType_13=non_coding_intron;refseq.positionType_14=non_coding_intron;refseq.positionType_15=non_coding_intron;refseq.positionType_16=non_coding_intron;refseq.positionType_17=non_coding_intron;refseq.positionType_18=non_coding_intron;refseq.positionType_19=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_20=non_coding_intron;refseq.positionType_21=non_coding_intron;refseq.positionType_22=non_coding_intron;refseq.positionType_23=non_coding_exon;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=non_coding_intron;refseq.positionType_6=non_coding_intron;refseq.positionType_7=non_coding_intron;refseq.positionType_8=non_coding_intron;refseq.positionType_9=non_coding_intron;refseq.spliceDist_23=-12;refseq.start_1=16284303;refseq.start_10=16285180;refseq.start_11=16285180;refseq.start_12=16285180;refseq.start_13=16285180;refseq.start_14=16285180;refseq.start_15=16285180;refseq.start_16=16285180;refseq.start_17=16285180;refseq.start_18=16285180;refseq.start_19=16285180;refseq.start_2=16284303;refseq.start_20=16285180;refseq.start_21=16285180;refseq.start_22=16285180;refseq.start_23=16285326;refseq.start_3=16284303;refseq.start_4=16284303;refseq.start_5=16284303;refseq.start_6=16284303;refseq.start_7=16285180;refseq.start_8=16285180;refseq.start_9=16285180;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_21=+;refseq.transcriptStrand_22=+;refseq.transcriptStrand_23=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;set=Intersection GT 0/1 chr17 16493721 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.63T>G;refseq.codonCoord=21;refseq.end=16493721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_020787;refseq.name2=ZNF624;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-25;refseq.start=16493721;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr17 16493722 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.62C>G;refseq.codonCoord=21;refseq.end=16493722;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_020787;refseq.name2=ZNF624;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-26;refseq.start=16493722;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr17 16783637 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=14.87;MQ=98.68;MQ0=0;OQ=3003.53;QD=10.96;RankSumP=0.425128;SB=-1519.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.831T>C;refseq.codonCoord=277;refseq.end=16783637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_012452;refseq.name2=TNFRSF13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S277S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=200;refseq.start=16783637;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr17 16796603 . C T 139.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=12.57;MQ=98.79;MQ0=0;OQ=3100.21;QD=14.98;RankSumP=0.464119;SB=-1269.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.81G>A;refseq.codonCoord=27;refseq.end=16796603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=94;refseq.name=NM_012452;refseq.name2=TNFRSF13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T27T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=20;refseq.start=16796603;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 16919769 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.144T>G;refseq.codingCoordStr_2=c.144T>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=16919769;refseq.end_2=16919769;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=200;refseq.mrnaCoord_2=200;refseq.name2_1=MPRIP;refseq.name2_2=MPRIP;refseq.name_1=NM_015134;refseq.name_2=NM_201274;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G48G;refseq.proteinCoordStr_2=p.G48G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=16919769;refseq.start_2=16919769;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 16986749 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=89.91;MQ0=3;OQ=1546.95;QD=13.34;RankSumP=0.0959193;SB=-304.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.980C>A;refseq.codingCoordStr_2=c.980C>A;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=16986749;refseq.end_2=16986749;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1036;refseq.mrnaCoord_2=1036;refseq.name2_1=MPRIP;refseq.name2_2=MPRIP;refseq.name_1=NM_015134;refseq.name_2=NM_201274;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P327Q;refseq.proteinCoordStr_2=p.P327Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=16986749;refseq.start_2=16986749;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr17 17002966 . C G 231.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=62.84;MQ0=0;OQ=807.71;QD=40.39;RankSumP=1.00000;SB=-249.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1971C>G;refseq.codingCoordStr_2=c.1971C>G;refseq.codonCoord_1=657;refseq.codonCoord_2=657;refseq.end_1=17002966;refseq.end_2=17002966;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2027;refseq.mrnaCoord_2=2027;refseq.name2_1=MPRIP;refseq.name2_2=MPRIP;refseq.name_1=NM_015134;refseq.name_2=NM_201274;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A657A;refseq.proteinCoordStr_2=p.A657A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=17002966;refseq.start_2=17002966;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 17108889 . G A 220.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=8.97;MQ=98.97;MQ0=0;OQ=4838.30;QD=18.61;RankSumP=0.445929;SB=-1976.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.573C>T;refseq.codonCoord=191;refseq.end=17108889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_003653;refseq.name2=COPS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I191I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-49;refseq.start=17108889;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr17 17190885 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.586G>C;refseq.codonCoord=196;refseq.end=17190885;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_020201;refseq.name2=NT5M;refseq.positionType=CDS;refseq.proteinCoordStr=p.A196P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=42;refseq.start=17190885;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 17335336 . G A 157.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.36;MQ0=0;OQ=2609.71;QD=16.21;RankSumP=0.450003;SB=-1136.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.243G>A;refseq.codonCoord=81;refseq.end=17335336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_018019;refseq.name2=MED9;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=19;refseq.start=17335336;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr17 17350285 . C T 243.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=96.57;MQ0=0;OQ=1191.13;QD=37.22;RankSumP=1.00000;SB=-370.36;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.523G>A;refseq.codingCoordStr_2=c.634G>A;refseq.codingCoordStr_3=c.523G>A;refseq.codonCoord_1=175;refseq.codonCoord_2=212;refseq.codonCoord_3=175;refseq.end_1=17350285;refseq.end_2=17350285;refseq.end_3=17350285;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=703;refseq.mrnaCoord_2=688;refseq.mrnaCoord_3=590;refseq.name2_1=PEMT;refseq.name2_2=PEMT;refseq.name2_3=PEMT;refseq.name_1=NM_007169;refseq.name_2=NM_148172;refseq.name_3=NM_148173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V175M;refseq.proteinCoordStr_2=p.V212M;refseq.proteinCoordStr_3=p.V175M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=17350285;refseq.start_2=17350285;refseq.start_3=17350285;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr17 17366356 . C T 273.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.13;MQ0=0;OQ=2290.75;QD=16.02;RankSumP=0.105885;SB=-935.20;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.172G>A;refseq.codingCoordStr_2=c.283G>A;refseq.codingCoordStr_3=c.172G>A;refseq.codonCoord_1=58;refseq.codonCoord_2=95;refseq.codonCoord_3=58;refseq.end_1=17366356;refseq.end_2=17366356;refseq.end_3=17366356;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=352;refseq.mrnaCoord_2=337;refseq.mrnaCoord_3=239;refseq.name2_1=PEMT;refseq.name2_2=PEMT;refseq.name2_3=PEMT;refseq.name_1=NM_007169;refseq.name_2=NM_148172;refseq.name_3=NM_148173;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V58I;refseq.proteinCoordStr_2=p.V95I;refseq.proteinCoordStr_3=p.V58I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=17366356;refseq.start_2=17366356;refseq.start_3=17366356;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr17 17638979 . G A 389.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.63;MQ0=0;OQ=3192.24;QD=39.90;RankSumP=1.00000;SB=-652.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1992G>A;refseq.codonCoord=664;refseq.end=17638979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2461;refseq.name=NM_030665;refseq.name2=RAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P664P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=2008;refseq.start=17638979;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr17 17647830 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=40.62;MQ=99.60;MQ0=0;OQ=3526.95;QD=25.01;RankSumP=1.00000;SB=-152.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5601T>C;refseq.codonCoord=1867;refseq.end=17647830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6070;refseq.name=NM_030665;refseq.name2=RAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1867I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=36;refseq.start=17647830;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 17654011 . G T 23.50 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=5;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=85.56;MQ0=0;QD=4.70;RankSumP=0.666667;SB=-35.93;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.5712G>T;refseq.codonCoord=1904;refseq.end=17654011;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6181;refseq.name=NM_030665;refseq.name2=RAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1904S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=17654011;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 0/1 chr17 17889200 . G A 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=249;Dels=0.00;HRun=2;HaplotypeScore=7.47;MQ=98.89;MQ0=0;OQ=10232.15;QD=41.09;RankSumP=1.00000;SB=-4956.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=17889200;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_024052;refseq.name2=C17orf39;refseq.positionType=CDS;refseq.proteinCoordStr=p.G151G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=15;refseq.start=17889200;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 17937934 . G A 246.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.70;MQ0=0;OQ=11981.89;QD=40.75;RankSumP=1.00000;SB=-4448.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.147G>A;refseq.codonCoord=49;refseq.end=17937934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=202;refseq.name=NM_001388;refseq.name2=DRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S49S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-79;refseq.start=17937934;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr17 17963862 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1023C>A;refseq.codonCoord=341;refseq.end=17963862;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1361;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y341*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1242;refseq.start=17963862;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr17 17982232 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=13.72;MQ=98.22;MQ0=0;OQ=10532.41;QD=34.88;RankSumP=1.00000;SB=-2726.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4954C>T;refseq.codonCoord=1652;refseq.end=17982232;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5292;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1652L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-54;refseq.start=17982232;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr17 17987623 . T C 65.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.38;MQ0=0;OQ=448.96;QD=29.93;RankSumP=1.00000;SB=-241.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.5929T>C;refseq.codonCoord=1977;refseq.end=17987623;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6267;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1977R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=19;refseq.start=17987623;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr17 17988550 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=552;Dels=0.00;HRun=1;HaplotypeScore=18.02;MQ=93.91;MQ0=0;OQ=9898.16;QD=17.93;RankSumP=0.437589;SB=-2378.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.6192G>A;refseq.codonCoord=2064;refseq.end=17988550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6530;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2064G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=15;refseq.start=17988550;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr17 17993592 . T C 124.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=11.41;MQ=98.74;MQ0=0;OQ=14768.22;QD=34.51;RankSumP=1.00000;SB=-5100.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.7185T>C;refseq.codonCoord=2395;refseq.end=17993592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7523;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F2395F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-28;refseq.start=17993592;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr17 17995954 . G A 285.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=892.54;QD=35.70;RankSumP=1.00000;SB=-250.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.7857G>A;refseq.codonCoord=2619;refseq.end=17995954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8195;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2619G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-37;refseq.start=17995954;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 17997892 . A T 125.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=8.80;MQ=98.67;MQ0=0;OQ=2989.41;QD=32.49;RankSumP=1.00000;SB=-1183.07;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.8045A>T;refseq.codonCoord=2682;refseq.end=17997892;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8383;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2682F;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-44;refseq.start=17997892;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr17 17999246 . C T 129.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=97.10;MQ0=0;OQ=3364.30;QD=30.58;RankSumP=1.00000;SB=-1406.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.8322C>T;refseq.codonCoord=2774;refseq.end=17999246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8660;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2774S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-19;refseq.start=17999246;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 18017900 . T C 297.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.24;MQ0=0;OQ=7111.86;QD=33.39;RankSumP=1.00000;SB=-1737.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.10431T>C;refseq.codonCoord=3477;refseq.end=18017900;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10769;refseq.name=NM_016239;refseq.name2=MYO15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y3477Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-61;refseq.start=18017900;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 18077866 . A G 112.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=98.22;MQ0=0;OQ=4624.10;QD=30.22;RankSumP=1.00000;SB=-962.43;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.442A>G;refseq.codonCoord=148;refseq.end=18077866;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_004140;refseq.name2=LLGL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S148G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=50;refseq.start=18077866;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 18082618 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=156;Dels=0.00;HRun=1;HaplotypeScore=4.64;MQ=98.53;MQ0=0;OQ=3012.13;QD=19.31;RankSumP=0.0919302;SB=-1016.93;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2176C>T;refseq.codonCoord=726;refseq.end=18082618;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2237;refseq.name=NM_004140;refseq.name2=LLGL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L726L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-31;refseq.start=18082618;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr17 18108688 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=2.03381e-07;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.*558T>C;refseq.codingCoordStr_2=c.1250T>C;refseq.codingCoordStr_3=c.1283T>C;refseq.codonCoord_2=417;refseq.codonCoord_3=428;refseq.end_1=18108688;refseq.end_2=18108688;refseq.end_3=18108688;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1387;refseq.mrnaCoord_2=1461;refseq.mrnaCoord_3=1309;refseq.name2_1=SMCR7;refseq.name2_2=SMCR7;refseq.name2_3=SMCR7;refseq.name_1=NM_001144900;refseq.name_2=NM_139162;refseq.name_3=NM_148886;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L417P;refseq.proteinCoordStr_3=p.L428P;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=866;refseq.spliceDist_2=940;refseq.spliceDist_3=940;refseq.start_1=18108688;refseq.start_2=18108688;refseq.start_3=18108688;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=FilteredInAll GT 1/0 chr17 18108689 . G C 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;DP=122;Dels=0.00;HRun=3;HaplotypeScore=27.06;MQ=97.84;MQ0=0;OQ=139.10;QD=1.14;RankSumP=0.0414570;SB=101.38;SecondBestBaseQ=8;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.*559G>C;refseq.codingCoordStr_2=c.1251G>C;refseq.codingCoordStr_3=c.1284G>C;refseq.codonCoord_2=417;refseq.codonCoord_3=428;refseq.end_1=18108689;refseq.end_2=18108689;refseq.end_3=18108689;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1388;refseq.mrnaCoord_2=1462;refseq.mrnaCoord_3=1310;refseq.name2_1=SMCR7;refseq.name2_2=SMCR7;refseq.name2_3=SMCR7;refseq.name_1=NM_001144900;refseq.name_2=NM_139162;refseq.name_3=NM_148886;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L417L;refseq.proteinCoordStr_3=p.L428L;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=867;refseq.spliceDist_2=941;refseq.spliceDist_3=941;refseq.start_1=18108689;refseq.start_2=18108689;refseq.start_3=18108689;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=soap-filterIngatk GT 0/1 chr17 18134666 . G A 263.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=98.87;MQ0=0;OQ=2750.98;QD=14.71;RankSumP=0.249016;SB=-1317.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1527C>T;refseq.codonCoord=509;refseq.end=18134666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1756;refseq.name=NM_004618;refseq.name2=TOP3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D509D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=60;refseq.start=18134666;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr17 18160467 . G A 228.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.88;MQ0=0;OQ=2523.30;QD=17.77;RankSumP=0.402675;SB=-1233.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.639G>A;refseq.codonCoord=213;refseq.end=18160467;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_144775;refseq.name2=SMCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T213T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1149;refseq.start=18160467;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr17 18161399 . C T 238.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=15.43;MQ=98.74;MQ0=0;OQ=2975.64;QD=16.81;RankSumP=0.0188582;SB=-1313.66;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1571C>T;refseq.codonCoord=524;refseq.end=18161399;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2081;refseq.name=NM_144775;refseq.name2=SMCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P524L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-790;refseq.start=18161399;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr17 18161495 . G A 268.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.63;MQ0=0;OQ=2204.89;QD=15.75;RankSumP=0.443736;SB=-918.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1667G>A;refseq.codonCoord=556;refseq.end=18161495;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2177;refseq.name=NM_144775;refseq.name2=SMCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R556H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-694;refseq.start=18161495;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr17 18161859 . C T 348.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=8.32;MQ=98.38;MQ0=0;OQ=6344.58;QD=19.83;RankSumP=0.415237;SB=-1497.46;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2031C>T;refseq.codonCoord=677;refseq.end=18161859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2541;refseq.name=NM_144775;refseq.name2=SMCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y677Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-330;refseq.start=18161859;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr17 18166902 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=322.92;QD=14.04;RankSumP=0.352252;SB=-38.36;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2607G>T;refseq.codonCoord=869;refseq.end=18166902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3117;refseq.name=NM_144775;refseq.name2=SMCR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L869L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=247;refseq.start=18166902;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr17 18172821 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=379.08;QD=18.05;RankSumP=0.705301;SB=-89.08;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1420C>T;refseq.codingCoordStr_2=c.1303C>T;refseq.codonCoord_1=474;refseq.codonCoord_2=435;refseq.end_1=18172821;refseq.end_2=18172821;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1610;refseq.mrnaCoord_2=1493;refseq.name2_1=SHMT1;refseq.name2_2=SHMT1;refseq.name_1=NM_004169;refseq.name_2=NM_148918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L474F;refseq.proteinCoordStr_2=p.L435F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=138;refseq.spliceDist_2=138;refseq.start_1=18172821;refseq.start_2=18172821;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr17 18320910 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=87;Dels=0.00;HRun=2;HaplotypeScore=9.44;MQ=83.90;MQ0=3;OQ=1594.25;QD=18.32;RankSumP=0.581955;SB=-499.45;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.17G>C;refseq.codonCoord=6;refseq.end=18320910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=87;refseq.name=NM_001040078;refseq.name2=LGALS9C;refseq.positionType=CDS;refseq.proteinCoordStr=p.C6S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-23;refseq.start=18320910;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 18330083 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.242C>G;refseq.codonCoord=81;refseq.end=18330083;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=312;refseq.name=NM_001040078;refseq.name2=LGALS9C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T81R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-92;refseq.start=18330083;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/1 chr17 18483244 . T G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=16.84;MQ=23.28;MQ0=67;OQ=2554.47;QD=9.75;RankSumP=0.250000;SB=-1128.32;SecondBestBaseQ=35;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.167A>C;refseq.codonCoord=56;refseq.end=18483244;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_001039397;refseq.name2=TBC1D28;refseq.positionType=CDS;refseq.proteinCoordStr=p.E56A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=18483244;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr17 18571720 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=507;Dels=0.00;HRun=1;HaplotypeScore=14.88;MQ=30.59;MQ0=176;OQ=6355.21;QD=12.53;RankSumP=0.0981500;SB=-2299.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.125G>A;refseq.codonCoord=42;refseq.end=18571720;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_001037330;refseq.name2=TRIM16L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R42K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-77;refseq.start=18571720;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr17 18571761 . A T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0536401;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.166A>T;refseq.codonCoord=56;refseq.end=18571761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_001037330;refseq.name2=TRIM16L;refseq.positionType=CDS;refseq.proteinCoordStr=p.M56L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-36;refseq.start=18571761;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr17 18575159 . A G 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.452381;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.253A>G;refseq.codonCoord=85;refseq.end=18575159;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_001037330;refseq.name2=TRIM16L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I85V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=52;refseq.start=18575159;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 0/1 chr17 18588350 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=377;Dels=0.00;HRun=1;HaplotypeScore=8.71;MQ=33.98;MQ0=125;OQ=9224.35;QD=24.47;RankSumP=0.724204;SB=-3134.16;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.68T>A;refseq.codonCoord=23;refseq.end=18588350;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I23N;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=300;refseq.start=18588350;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr17 18588376 . T C 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.448622;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.94T>C;refseq.codonCoord=32;refseq.end=18588376;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.C32R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=326;refseq.start=18588376;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 1/0 chr17 18588559 . A G 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.380952;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.277A>G;refseq.codonCoord=93;refseq.end=18588559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N93D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-229;refseq.start=18588559;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 0/1 chr17 18592121 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.670494;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.648G>C;refseq.codonCoord=216;refseq.end=18592121;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-23;refseq.start=18592121;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 0/1 chr17 18593784 . G T 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.695G>T;refseq.codonCoord=232;refseq.end=18593784;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=927;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R232L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=25;refseq.start=18593784;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr17 18593795 . G A 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=3;HaplotypeScore=0.92;MQ=25.67;MQ0=24;OQ=1426.07;QD=10.41;RankSumP=1.00000;SB=-36.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.706G>A;refseq.codonCoord=236;refseq.end=18593795;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E236K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=36;refseq.start=18593795;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=filterInsoap-gatk GT 1/1 chr17 18593870 . C G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=655;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=16.49;MQ0=561;OQ=662.74;QD=1.01;SB=-69.82;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.781C>G;refseq.codonCoord=261;refseq.end=18593870;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L261V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-91;refseq.start=18593870;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:498,154:85:-95.16,-25.60,-306.26:99 chr17 18600139 . A G 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1179A>G;refseq.codonCoord=393;refseq.end=18600139;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I393M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-54;refseq.start=18600139;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 0/1 chr17 18622522 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.721019;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2342T>C;refseq.codonCoord=781;refseq.end=18622522;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2574;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V781A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=18622522;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap GT 1/0 chr17 18622654 . A G 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=35;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2474A>G;refseq.codonCoord=825;refseq.end=18622654;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2706;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H825R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=139;refseq.start=18622654;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 0/1 chr17 18623124 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2944A>G;refseq.codonCoord=982;refseq.end=18623124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3176;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T982A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-264;refseq.start=18623124;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/1 chr17 18623230 . T C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.142857;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3050T>C;refseq.codonCoord=1017;refseq.end=18623230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3282;refseq.name=NM_031456;refseq.name2=FBXW10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1017A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-158;refseq.start=18623230;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr17 18634990 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.278225;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.152A>G;refseq.codonCoord=51;refseq.end=18634990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_016078;refseq.name2=FAM18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y51C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=57;refseq.start=18634990;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr17 18635002 . G A 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1001;Dels=0.00;HRun=0;HaplotypeScore=21.73;MQ=15.18;MQ0=560;OQ=13806.11;QD=13.79;RankSumP=1.00000;SB=-5952.95;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.164G>A;refseq.codonCoord=55;refseq.end=18635002;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=189;refseq.name=NM_016078;refseq.name2=FAM18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G55E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=69;refseq.start=18635002;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 18635036 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.338757;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.198G>T;refseq.codonCoord=66;refseq.end=18635036;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_016078;refseq.name2=FAM18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V66V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-43;refseq.start=18635036;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=soap GT 0/1 chr17 18642945 . T C 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=506;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=26.29;MQ0=132;OQ=14525.49;QD=28.71;RankSumP=1.00000;SB=-6275.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.426T>C;refseq.codonCoord=142;refseq.end=18642945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_016078;refseq.name2=FAM18B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A142A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-37;refseq.start=18642945;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 18716625 . A G 426.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4593.72;QD=39.26;RankSumP=1.00000;SB=-1634.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=18716625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_002767;refseq.name2=PRPSAP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T59T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=18716625;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 18796336 . T C 379.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3838.55;QD=36.91;RankSumP=1.00000;SB=-1233.17;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.93T>C;refseq.codingCoordStr_2=c.93T>C;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=18796336;refseq.end_2=18796336;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=134;refseq.mrnaCoord_2=134;refseq.name2_1=SLC5A10;refseq.name2_2=SLC5A10;refseq.name_1=NM_001042450;refseq.name_2=NM_152351;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N31N;refseq.proteinCoordStr_2=p.N31N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=18796336;refseq.start_2=18796336;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr17 18815445 . C G 159.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=2.30;MQ=96.29;MQ0=0;OQ=2662.51;QD=16.75;RankSumP=0.295619;SB=-597.30;SecondBestBaseQ=32;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.2424G>C;refseq.codonCoord_3=808;refseq.end_1=18820881;refseq.end_2=18820881;refseq.end_3=18815445;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=2591;refseq.name2_1=SLC5A10;refseq.name2_2=SLC5A10;refseq.name2_3=FAM83G;refseq.name_1=NM_001042450;refseq.name_2=NM_152351;refseq.name_3=NM_001039999;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S808S;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCG;refseq.spliceDist_3=-340;refseq.start_1=18815267;refseq.start_2=18815267;refseq.start_3=18815445;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr17 18815464 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.2405G>T;refseq.codonCoord_3=802;refseq.end_1=18820881;refseq.end_2=18820881;refseq.end_3=18815464;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=2572;refseq.name2_1=SLC5A10;refseq.name2_2=SLC5A10;refseq.name2_3=FAM83G;refseq.name_1=NM_001042450;refseq.name_2=NM_152351;refseq.name_3=NM_001039999;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G802V;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGT;refseq.spliceDist_3=323;refseq.start_1=18815267;refseq.start_2=18815267;refseq.start_3=18815464;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTT;set=FilteredInAll GT 1/0 chr17 18820993 . C A 242.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=351;Dels=0.00;HRun=1;HaplotypeScore=6.31;MQ=98.51;MQ0=0;OQ=5740.37;QD=16.35;RankSumP=0.174026;SB=-1841.88;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.948C>A;refseq.codingCoordStr_3=c.948C>A;refseq.codonCoord_2=316;refseq.codonCoord_3=316;refseq.end_1=18821611;refseq.end_2=18820993;refseq.end_3=18820993;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=989;refseq.mrnaCoord_3=989;refseq.name2_1=FAM83G;refseq.name2_2=SLC5A10;refseq.name2_3=SLC5A10;refseq.name_1=NM_001039999;refseq.name_2=NM_001042450;refseq.name_3=NM_152351;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I316I;refseq.proteinCoordStr_3=p.I316I;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.start_1=18815797;refseq.start_2=18820993;refseq.start_3=18820993;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/0 chr17 18908097 . G T 12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=17.09;MQ0=273;OQ=334.03;QD=1.18;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;set=filterInsoap-gatk GT 1/1 chr17 19032027 . G C 10 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=2506;Dels=0.00;HRun=0;HaplotypeScore=100.28;MQ=16.34;MQ0=1249;OQ=2348.18;QD=0.94;RankSumP=1.00000;SB=-380.79;SecondBestBaseQ=23;set=FilteredInAll GT 1/1 chr17 19032046 . T A 16 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=2578;Dels=0.00;HRun=0;HaplotypeScore=72.02;MQ=13.70;MQ0=1705;OQ=969.24;QD=0.38;RankSumP=1.00000;SB=2.40;SecondBestBaseQ=27;set=FilteredInAll GT 1/1 chr17 19127560 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.500002;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.535A>C;refseq.codingCoordStr_3=c.535A>C;refseq.codonCoord_2=179;refseq.codonCoord_3=179;refseq.end_1=19153780;refseq.end_2=19127560;refseq.end_3=19127560;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=983;refseq.mrnaCoord_3=983;refseq.name2_1=EPN2;refseq.name2_2=EPN2;refseq.name2_3=EPN2;refseq.name_1=NM_001102664;refseq.name_2=NM_014964;refseq.name_3=NM_148921;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T179P;refseq.proteinCoordStr_3=p.T179P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.start_1=19081448;refseq.start_2=19127560;refseq.start_3=19127560;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=soap GT 0/1 chr17 19157169 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=21.59;MQ=98.63;MQ0=0;OQ=1874.64;QD=12.33;RankSumP=0.419356;SB=-375.83;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.276C>T;refseq.codingCoordStr_2=c.1131C>T;refseq.codingCoordStr_3=c.960C>T;refseq.codonCoord_1=92;refseq.codonCoord_2=377;refseq.codonCoord_3=320;refseq.end_1=19157169;refseq.end_2=19157169;refseq.end_3=19157169;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=520;refseq.mrnaCoord_2=1579;refseq.mrnaCoord_3=1408;refseq.name2_1=EPN2;refseq.name2_2=EPN2;refseq.name2_3=EPN2;refseq.name_1=NM_001102664;refseq.name_2=NM_014964;refseq.name_3=NM_148921;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D92D;refseq.proteinCoordStr_2=p.D377D;refseq.proteinCoordStr_3=p.D320D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=19157169;refseq.start_2=19157169;refseq.start_3=19157169;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr17 19172671 . T C 448.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.36;MQ0=0;OQ=4631.56;QD=37.35;RankSumP=1.00000;SB=-2151.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.347T>C;refseq.codingCoordStr_2=c.1202T>C;refseq.codingCoordStr_3=c.1031T>C;refseq.codonCoord_1=116;refseq.codonCoord_2=401;refseq.codonCoord_3=344;refseq.end_1=19172671;refseq.end_2=19172671;refseq.end_3=19172671;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=591;refseq.mrnaCoord_2=1650;refseq.mrnaCoord_3=1479;refseq.name2_1=EPN2;refseq.name2_2=EPN2;refseq.name2_3=EPN2;refseq.name_1=NM_001102664;refseq.name_2=NM_014964;refseq.name_3=NM_148921;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V116A;refseq.proteinCoordStr_2=p.V401A;refseq.proteinCoordStr_3=p.V344A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=19172671;refseq.start_2=19172671;refseq.start_3=19172671;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr17 19224729 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.614G>C;refseq.codingCoordStr_2=c.197G>C;refseq.codingCoordStr_3=c.614G>C;refseq.codingCoordStr_4=c.614G>C;refseq.codonCoord_1=205;refseq.codonCoord_2=66;refseq.codonCoord_3=205;refseq.codonCoord_4=205;refseq.end_1=19224729;refseq.end_2=19224729;refseq.end_3=19224729;refseq.end_4=19224729;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=789;refseq.mrnaCoord_2=597;refseq.mrnaCoord_3=1000;refseq.mrnaCoord_4=701;refseq.name2_1=MAPK7;refseq.name2_2=MAPK7;refseq.name2_3=MAPK7;refseq.name2_4=MAPK7;refseq.name_1=NM_002749;refseq.name_2=NM_139032;refseq.name_3=NM_139033;refseq.name_4=NM_139034;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R205P;refseq.proteinCoordStr_2=p.R66P;refseq.proteinCoordStr_3=p.R205P;refseq.proteinCoordStr_4=p.R205P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=216;refseq.spliceDist_2=216;refseq.spliceDist_3=216;refseq.spliceDist_4=216;refseq.start_1=19224729;refseq.start_2=19224729;refseq.start_3=19224729;refseq.start_4=19224729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=FilteredInAll GT 0/1 chr17 19227049 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=3;RankSumP=3.84562e-06;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.2363A>C;refseq.codingCoordStr_2=c.1946A>C;refseq.codingCoordStr_3=c.2363A>C;refseq.codingCoordStr_4=c.2363A>C;refseq.codonCoord_1=788;refseq.codonCoord_2=649;refseq.codonCoord_3=788;refseq.codonCoord_4=788;refseq.end_1=19227049;refseq.end_2=19227049;refseq.end_3=19227049;refseq.end_4=19227049;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2538;refseq.mrnaCoord_2=2346;refseq.mrnaCoord_3=2749;refseq.mrnaCoord_4=2450;refseq.name2_1=MAPK7;refseq.name2_2=MAPK7;refseq.name2_3=MAPK7;refseq.name2_4=MAPK7;refseq.name_1=NM_002749;refseq.name_2=NM_139032;refseq.name_3=NM_139033;refseq.name_4=NM_139034;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N788T;refseq.proteinCoordStr_2=p.N649T;refseq.proteinCoordStr_3=p.N788T;refseq.proteinCoordStr_4=p.N788T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.spliceDist_3=66;refseq.spliceDist_4=66;refseq.start_1=19227049;refseq.start_2=19227049;refseq.start_3=19227049;refseq.start_4=19227049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 0/1 chr17 19519465 . A T 101.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=98.82;MQ0=0;OQ=22997.01;QD=41.07;RankSumP=1.00000;SB=-10447.92;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1446A>T;refseq.codingCoordStr_2=c.*44A>T;refseq.codonCoord_1=482;refseq.end_1=19519465;refseq.end_2=19519465;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1792;refseq.name2_1=ALDH3A2;refseq.name2_2=ALDH3A2;refseq.name_1=NM_000382;refseq.name_2=NM_001031806;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A482A;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=19519465;refseq.start_2=19519465;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantCodon_1=GCT;set=Intersection GT 1/1 chr17 19549365 . G A 370.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=96.75;MQ0=0;OQ=3490.84;QD=37.94;RankSumP=1.00000;SB=-1525.97;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.885C>T;refseq.codingCoordStr_2=c.993C>T;refseq.codonCoord_1=295;refseq.codonCoord_2=331;refseq.end_1=19549365;refseq.end_2=19549365;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1060;refseq.mrnaCoord_2=1168;refseq.name2_1=SLC47A2;refseq.name2_2=SLC47A2;refseq.name_1=NM_001099646;refseq.name_2=NM_152908;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y295Y;refseq.proteinCoordStr_2=p.Y331Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=19549365;refseq.start_2=19549365;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr17 19557828 . G T 177.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=98.74;MQ0=0;OQ=2340.03;QD=32.50;RankSumP=1.00000;SB=-732.07;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.345C>A;refseq.codingCoordStr_2=c.345C>A;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=19557828;refseq.end_2=19557828;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=520;refseq.mrnaCoord_2=520;refseq.name2_1=SLC47A2;refseq.name2_2=SLC47A2;refseq.name_1=NM_001099646;refseq.name_2=NM_152908;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G115G;refseq.proteinCoordStr_2=p.G115G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=19557828;refseq.start_2=19557828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr17 19583544 . G C 461.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.18;MQ0=0;OQ=3749.50;QD=39.47;RankSumP=1.00000;SB=-1796.80;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.985C>G;refseq.codingCoordStr_2=c.985C>G;refseq.codingCoordStr_3=c.985C>G;refseq.codonCoord_1=329;refseq.codonCoord_2=329;refseq.codonCoord_3=329;refseq.end_1=19583544;refseq.end_2=19583544;refseq.end_3=19583544;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1165;refseq.mrnaCoord_2=1160;refseq.mrnaCoord_3=1315;refseq.name2_1=ALDH3A1;refseq.name2_2=ALDH3A1;refseq.name2_3=ALDH3A1;refseq.name_1=NM_000691;refseq.name_2=NM_001135167;refseq.name_3=NM_001135168;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P329A;refseq.proteinCoordStr_2=p.P329A;refseq.proteinCoordStr_3=p.P329A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.start_1=19583544;refseq.start_2=19583544;refseq.start_3=19583544;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr17 19586530 . A C 334.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.84;MQ0=0;OQ=3569.21;QD=33.99;RankSumP=1.00000;SB=-1040.71;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.400T>G;refseq.codingCoordStr_2=c.400T>G;refseq.codingCoordStr_3=c.400T>G;refseq.codonCoord_1=134;refseq.codonCoord_2=134;refseq.codonCoord_3=134;refseq.end_1=19586530;refseq.end_2=19586530;refseq.end_3=19586530;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=580;refseq.mrnaCoord_2=575;refseq.mrnaCoord_3=730;refseq.name2_1=ALDH3A1;refseq.name2_2=ALDH3A1;refseq.name2_3=ALDH3A1;refseq.name_1=NM_000691;refseq.name_2=NM_001135167;refseq.name_3=NM_001135168;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S134A;refseq.proteinCoordStr_2=p.S134A;refseq.proteinCoordStr_3=p.S134A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.start_1=19586530;refseq.start_2=19586530;refseq.start_3=19586530;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chr17 19654332 . C T 317 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.98;MQ0=0;OQ=8130.76;QD=42.57;RankSumP=1.00000;SB=-3512.53;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1108G>A;refseq.codingCoordStr_2=c.1108G>A;refseq.codonCoord_1=370;refseq.codonCoord_2=370;refseq.end_1=19654332;refseq.end_2=19654332;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1617;refseq.mrnaCoord_2=1617;refseq.name2_1=ULK2;refseq.name2_2=ULK2;refseq.name_1=NM_001142610;refseq.name_2=NM_014683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V370M;refseq.proteinCoordStr_2=p.V370M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=19654332;refseq.start_2=19654332;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr17 19670087 . T C 299.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.96;MQ0=0;OQ=8979.05;QD=37.73;RankSumP=1.00000;SB=-3927.83;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.792A>G;refseq.codingCoordStr_2=c.792A>G;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=19670087;refseq.end_2=19670087;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1301;refseq.name2_1=ULK2;refseq.name2_2=ULK2;refseq.name_1=NM_001142610;refseq.name_2=NM_014683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A264A;refseq.proteinCoordStr_2=p.A264A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=19670087;refseq.start_2=19670087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 20048783 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=6.24076e-09;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.829A>C;refseq.codingCoordStr_2=c.586A>C;refseq.codingCoordStr_3=c.586A>C;refseq.codingCoordStr_4=c.829A>C;refseq.codonCoord_1=277;refseq.codonCoord_2=196;refseq.codonCoord_3=196;refseq.codonCoord_4=277;refseq.end_1=20048783;refseq.end_2=20048783;refseq.end_3=20048783;refseq.end_4=20048783;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=694;refseq.mrnaCoord_3=694;refseq.mrnaCoord_4=880;refseq.name2_1=CYTSB;refseq.name2_2=CYTSB;refseq.name2_3=CYTSB;refseq.name2_4=CYTSB;refseq.name_1=NM_001033553;refseq.name_2=NM_001033554;refseq.name_3=NM_001033555;refseq.name_4=NM_152904;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T277P;refseq.proteinCoordStr_2=p.T196P;refseq.proteinCoordStr_3=p.T196P;refseq.proteinCoordStr_4=p.T277P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=546;refseq.spliceDist_2=546;refseq.spliceDist_3=546;refseq.spliceDist_4=546;refseq.start_1=20048783;refseq.start_2=20048783;refseq.start_3=20048783;refseq.start_4=20048783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 0/1 chr17 20091125 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.49210e-07;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2499T>G;refseq.codingCoordStr_2=c.2256T>G;refseq.codonCoord_1=833;refseq.codonCoord_2=752;refseq.end_1=20091125;refseq.end_2=20091125;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2550;refseq.mrnaCoord_2=2364;refseq.name2_1=CYTSB;refseq.name2_2=CYTSB;refseq.name_1=NM_001033553;refseq.name_2=NM_001033555;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G833G;refseq.proteinCoordStr_2=p.G752G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=20091125;refseq.start_2=20091125;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 20293970 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.364985;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.976G>C;refseq.codonCoord=326;refseq.end=20293970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V326L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=55;refseq.start=20293970;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 1/0 chr17 20296262 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.174572;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.663T>C;refseq.codonCoord=221;refseq.end=20296262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P221P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=20296262;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr17 20299286 . G A 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.750000;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.462C>T;refseq.codonCoord=154;refseq.end=20299286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P154P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=18;refseq.start=20299286;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 1/0 chr17 20299294 . T C 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=0.0854701;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.454A>G;refseq.codonCoord=152;refseq.end=20299294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T152A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=20299294;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr17 20299301 . A G 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.726190;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.447T>C;refseq.codonCoord=149;refseq.end=20299301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N149N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=20299301;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr17 20302179 . C G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.242G>C;refseq.codonCoord=81;refseq.end=20302179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_001042685;refseq.name2=LGALS9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R81T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-92;refseq.start=20302179;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/1 chr17 20710454 . T A 44.38 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=41.33;MQ0=11;QD=0.81;SB=-15.87;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.570A>T;refseq.codonCoord=190;refseq.end=20710454;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_001004306;refseq.name2=CCDC144NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G190G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=20710454;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:43,7:31:-17.06,-9.34,-102.21:77.22 chr17 20710458 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=44.33;MQ0=7;OQ=83.76;QD=1.78;SB=-23.57;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.566C>T;refseq.codonCoord=189;refseq.end=20710458;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=686;refseq.name=NM_001004306;refseq.name2=CCDC144NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P189L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=20710458;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:40,7:32:-21.30,-9.64,-104.53:99 chr17 20856751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.928A>C;refseq.codonCoord=310;refseq.end=20856751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_015276;refseq.name2=USP22;refseq.positionType=CDS;refseq.proteinCoordStr=p.T310P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-17;refseq.start=20856751;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 21142784 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=193;Dels=0.01;HRun=1;HaplotypeScore=16.92;MQ=97.04;MQ0=0;OQ=2109.17;QD=10.93;RankSumP=7.76811e-06;SB=-362.93;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.31C>A;refseq.codingCoordStr_2=c.118C>A;refseq.codonCoord_1=11;refseq.codonCoord_2=40;refseq.end_1=21142784;refseq.end_2=21142784;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=125;refseq.mrnaCoord_2=383;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P11T;refseq.proteinCoordStr_2=p.P40T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=21142784;refseq.start_2=21142784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 1/0 chr17 21142830 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=22.19;MQ=96.29;MQ0=0;OQ=4370.74;QD=15.72;RankSumP=0.203587;SB=-1536.27;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.77G>C;refseq.codingCoordStr_2=c.164G>C;refseq.codonCoord_1=26;refseq.codonCoord_2=55;refseq.end_1=21142830;refseq.end_2=21142830;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=171;refseq.mrnaCoord_2=429;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R26T;refseq.proteinCoordStr_2=p.R55T;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=21142830;refseq.start_2=21142830;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr17 21144486 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=96.84;MQ0=0;OQ=948.07;QD=12.47;RankSumP=0.610644;SB=-489.85;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.115T>C;refseq.codingCoordStr_2=c.202T>C;refseq.codonCoord_1=39;refseq.codonCoord_2=68;refseq.end_1=21144486;refseq.end_2=21144486;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=209;refseq.mrnaCoord_2=467;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S39P;refseq.proteinCoordStr_2=p.S68P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=21144486;refseq.start_2=21144486;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr17 21144500 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=96.62;MQ0=0;OQ=171.22;QD=2.09;SB=-96.34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.129T>C;refseq.codingCoordStr_2=c.216T>C;refseq.codonCoord_1=43;refseq.codonCoord_2=72;refseq.end_1=21144500;refseq.end_2=21144500;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=223;refseq.mrnaCoord_2=481;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R43R;refseq.proteinCoordStr_2=p.R72R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=21144500;refseq.start_2=21144500;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:69,13:78:-43.90,-23.49,-279.27:99 chr17 21144527 rs62057672 G A 1.49 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=10.83;MQ=96.57;MQ0=0;OQ=549.39;QD=7.96;SB=-77.82;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.156G>A;refseq.codingCoordStr_2=c.243G>A;refseq.codonCoord_1=52;refseq.codonCoord_2=81;refseq.end_1=21144527;refseq.end_2=21144527;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=250;refseq.mrnaCoord_2=508;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V52V;refseq.proteinCoordStr_2=p.V81V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=21144527;refseq.start_2=21144527;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=gatk GT:AD:DP:GL:GQ 0/1:48,21:65:-77.79,-19.57,-192.40:99 chr17 21144534 rs2305873 G A 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=8.20;MQ=96.99;MQ0=0;OQ=61.49;QD=1.01;SB=32.12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.163G>A;refseq.codingCoordStr_2=c.250G>A;refseq.codonCoord_1=55;refseq.codonCoord_2=84;refseq.end_1=21144534;refseq.end_2=21144534;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=257;refseq.mrnaCoord_2=515;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A55T;refseq.proteinCoordStr_2=p.A84T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=21144534;refseq.start_2=21144534;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=gatk GT:AD:DP:GL:GQ 0/1:53,8:57:-26.60,-17.17,-195.71:94.33 chr17 21144542 . C T 2.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=96.87;MQ0=0;OQ=459.01;QD=8.66;RankSumP=0.0945180;SB=-79.54;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.171C>T;refseq.codingCoordStr_2=c.258C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=86;refseq.end_1=21144542;refseq.end_2=21144542;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=265;refseq.mrnaCoord_2=523;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S57S;refseq.proteinCoordStr_2=p.S86S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=21144542;refseq.start_2=21144542;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=filterInsoap-gatk GT 0/1 chr17 21144780 rs56067280 G T 1.67 PASS AC=1;AF=0.50;AN=2;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=95.89;MQ0=0;OQ=1661.28;QD=5.69;SB=-702.43;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.194G>T;refseq.codingCoordStr_2=c.281G>T;refseq.codonCoord_1=65;refseq.codonCoord_2=94;refseq.end_1=21144780;refseq.end_2=21144780;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=288;refseq.mrnaCoord_2=546;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R65L;refseq.proteinCoordStr_2=p.R94L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=21144780;refseq.start_2=21144780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:223,69:271:-251.03,-81.62,-753.01:99 chr17 21144785 rs56216806 C T 1.87 PASS AC=1;AF=0.50;AN=2;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=95.74;MQ0=0;OQ=2113.09;QD=7.02;SB=-1010.42;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.199C>T;refseq.codingCoordStr_2=c.286C>T;refseq.codonCoord_1=67;refseq.codonCoord_2=96;refseq.end_1=21144785;refseq.end_2=21144785;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=293;refseq.mrnaCoord_2=551;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R67W;refseq.proteinCoordStr_2=p.R96W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=21144785;refseq.start_2=21144785;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=gatk GT:AD:DP:GL:GQ 0/1:226,75:279:-298.64,-84.05,-786.42:99 chr17 21144803 rs55796947 C T 1.83 PASS AC=1;AF=0.50;AN=2;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=94.79;MQ0=0;OQ=2198.13;QD=6.60;SB=-1000.38;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.217C>T;refseq.codingCoordStr_2=c.304C>T;refseq.codonCoord_1=73;refseq.codonCoord_2=102;refseq.end_1=21144803;refseq.end_2=21144803;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=311;refseq.mrnaCoord_2=569;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q73*;refseq.proteinCoordStr_2=p.Q102*;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=21144803;refseq.start_2=21144803;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=gatk GT:AD:DP:GL:GQ 0/1:252,81:316:-318.26,-95.16,-970.33:99 chr17 21144850 . G A 12 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=526;Dels=0.00;HRun=0;HaplotypeScore=140.06;MQ=96.05;MQ0=0;OQ=2779.90;QD=5.28;RankSumP=0.105196;SB=-1350.15;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.264G>A;refseq.codingCoordStr_2=c.351G>A;refseq.codonCoord_1=88;refseq.codonCoord_2=117;refseq.end_1=21144850;refseq.end_2=21144850;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=616;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T88T;refseq.proteinCoordStr_2=p.T117T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=21144850;refseq.start_2=21144850;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 1/0 chr17 21144859 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=614;Dels=0.00;HRun=0;HaplotypeScore=136.39;MQ=95.99;MQ0=0;OQ=13257.62;QD=21.59;RankSumP=0.0343724;SB=-4845.20;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.273T>C;refseq.codingCoordStr_2=c.360T>C;refseq.codonCoord_1=91;refseq.codonCoord_2=120;refseq.end_1=21144859;refseq.end_2=21144859;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=367;refseq.mrnaCoord_2=625;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C91C;refseq.proteinCoordStr_2=p.C120C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=21144859;refseq.start_2=21144859;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=soap-filterIngatk GT 1/0 chr17 21146053 . C T 131.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=98.22;MQ0=0;OQ=2164.20;QD=14.43;RankSumP=0.374360;SB=-895.33;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.318C>T;refseq.codingCoordStr_2=c.405C>T;refseq.codonCoord_1=106;refseq.codonCoord_2=135;refseq.end_1=21146053;refseq.end_2=21146053;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=670;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D106D;refseq.proteinCoordStr_2=p.D135D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=21146053;refseq.start_2=21146053;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr17 21148427 . C T 426.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=22.07;MQ=95.95;MQ0=0;QD=4.79;RankSumP=0.182472;SB=-145.64;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.578C>T;refseq.codingCoordStr_2=c.665C>T;refseq.codonCoord_1=193;refseq.codonCoord_2=222;refseq.end_1=21148427;refseq.end_2=21148427;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=672;refseq.mrnaCoord_2=930;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T193M;refseq.proteinCoordStr_2=p.T222M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=21148427;refseq.start_2=21148427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=soap-filterIngatk GT 0/1 chr17 21148428 . G A 24 ESPStandard;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=1;HaplotypeScore=22.54;MQ=95.95;MQ0=0;QD=0.27;SB=-1.55;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.579G>A;refseq.codingCoordStr_2=c.666G>A;refseq.codonCoord_1=193;refseq.codonCoord_2=222;refseq.end_1=21148428;refseq.end_2=21148428;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=931;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T193T;refseq.proteinCoordStr_2=p.T222T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=21148428;refseq.start_2=21148428;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:80,9:67:-25.86,-20.18,-241.79:56.82 chr17 21148437 . C T 300.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=29.90;MQ=96.08;MQ0=0;QD=3.23;RankSumP=0.153397;SB=-63.01;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.588C>T;refseq.codingCoordStr_2=c.675C>T;refseq.codonCoord_1=196;refseq.codonCoord_2=225;refseq.end_1=21148437;refseq.end_2=21148437;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=940;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A196A;refseq.proteinCoordStr_2=p.A225A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=21148437;refseq.start_2=21148437;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap-filterIngatk GT 0/1 chr17 21149006 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=9.36;MQ=98.54;MQ0=0;OQ=2342.16;QD=7.97;RankSumP=0.275126;SB=-1074.48;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.660C>T;refseq.codingCoordStr_2=c.747C>T;refseq.codonCoord_1=220;refseq.codonCoord_2=249;refseq.end_1=21149006;refseq.end_2=21149006;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=754;refseq.mrnaCoord_2=1012;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S220S;refseq.proteinCoordStr_2=p.S249S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=21149006;refseq.start_2=21149006;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr17 21156076 rs55935757 C T 0.45 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.74;MQ0=0;OQ=583.48;QD=7.29;SB=-263.12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.717C>T;refseq.codingCoordStr_2=c.804C>T;refseq.codonCoord_1=239;refseq.codonCoord_2=268;refseq.end_1=21156076;refseq.end_2=21156076;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=1069;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y239Y;refseq.proteinCoordStr_2=p.Y268Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=21156076;refseq.start_2=21156076;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=gatk GT:AD:DP:GL:GQ 0/1:58,21:72:-83.32,-21.69,-195.11:99 chr17 21156130 rs55736474 C A 0.27 PASS AC=1;AF=0.50;AN=2;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=97.83;MQ0=0;OQ=659.62;QD=5.64;SB=-228.11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.771C>A;refseq.codingCoordStr_2=c.858C>A;refseq.codonCoord_1=257;refseq.codonCoord_2=286;refseq.end_1=21156130;refseq.end_2=21156130;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=865;refseq.mrnaCoord_2=1123;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S257S;refseq.proteinCoordStr_2=p.S286S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=21156130;refseq.start_2=21156130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=gatk GT:AD:DP:GL:GQ 0/1:89,28:106:-101.16,-31.92,-318.36:99 chr17 21156145 . C T 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=97.22;MQ0=0;OQ=1204.54;QD=9.19;RankSumP=0.483361;SB=-422.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.786C>T;refseq.codingCoordStr_2=c.873C>T;refseq.codonCoord_1=262;refseq.codonCoord_2=291;refseq.end_1=21156145;refseq.end_2=21156145;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=1138;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A262A;refseq.proteinCoordStr_2=p.A291A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=21156145;refseq.start_2=21156145;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr17 21156150 . G A 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=97.23;MQ0=0;OQ=1297.02;QD=9.26;RankSumP=0.173852;SB=-373.20;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.791G>A;refseq.codingCoordStr_2=c.878G>A;refseq.codonCoord_1=264;refseq.codonCoord_2=293;refseq.end_1=21156150;refseq.end_2=21156150;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=1143;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R264H;refseq.proteinCoordStr_2=p.R293H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=21156150;refseq.start_2=21156150;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr17 21157439 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=96.32;MQ0=0;OQ=1828.00;QD=12.35;RankSumP=0.416045;SB=-696.87;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.870G>C;refseq.codingCoordStr_2=c.957G>C;refseq.codonCoord_1=290;refseq.codonCoord_2=319;refseq.end_1=21157439;refseq.end_2=21157439;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=1222;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L290L;refseq.proteinCoordStr_2=p.L319L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=21157439;refseq.start_2=21157439;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr17 21158106 . G A 346.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=97.13;MQ0=0;OQ=4064.81;QD=18.91;RankSumP=0.457854;SB=-1357.92;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.928G>A;refseq.codingCoordStr_2=c.1015G>A;refseq.codonCoord_1=310;refseq.codonCoord_2=339;refseq.end_1=21158106;refseq.end_2=21158106;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=1280;refseq.name2_1=MAP2K3;refseq.name2_2=MAP2K3;refseq.name_1=NM_002756;refseq.name_2=NM_145109;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V310M;refseq.proteinCoordStr_2=p.V339M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.start_1=21158106;refseq.start_2=21158106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr17 21259256 . G A 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=113;Dels=0.00;HRun=0;HaplotypeScore=8.87;MQ=97.22;MQ0=0;OQ=864.49;QD=7.65;RankSumP=0.137146;SB=-287.24;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.9G>A;refseq.codonCoord=3;refseq.end=21259256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=65;refseq.start=21259256;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr17 21259291 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=174;Dels=0.00;HRun=1;HaplotypeScore=9.80;MQ=97.73;MQ0=0;OQ=1996.99;QD=11.48;RankSumP=0.0475833;SB=-780.73;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.44C>T;refseq.codonCoord=15;refseq.end=21259291;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S15L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=100;refseq.start=21259291;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 21259363 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=98.79;MQ0=0;OQ=571.15;QD=4.57;RankSumP=0.215473;SB=-144.19;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.116G>A;refseq.codonCoord=39;refseq.end=21259363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R39Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=172;refseq.start=21259363;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 21259366 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=51.50;MQ=98.78;MQ0=0;OQ=577.79;QD=4.86;RankSumP=0.353502;SB=-149.24;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.119G>A;refseq.codonCoord=40;refseq.end=21259366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R40H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=175;refseq.start=21259366;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr17 21259375 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=120;Dels=0.00;HRun=0;HaplotypeScore=24.51;MQ=98.59;MQ0=0;OQ=766.14;QD=6.38;RankSumP=0.189712;SB=-274.11;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.128G>A;refseq.codonCoord=43;refseq.end=21259375;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=833;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R43H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=184;refseq.start=21259375;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 1/0 chr17 21259414 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=9.02;MQ=98.21;MQ0=0;OQ=786.64;QD=5.43;RankSumP=0.472442;SB=-324.37;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.167A>C;refseq.codonCoord=56;refseq.end=21259414;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E56A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=223;refseq.start=21259414;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr17 21259460 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=106;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=97.79;MQ0=0;OQ=595.86;QD=5.62;RankSumP=0.418387;SB=-225.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.213G>A;refseq.codonCoord=71;refseq.end=21259460;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.M71I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=269;refseq.start=21259460;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap-filterIngatk GT 1/0 chr17 21259490 . G C 131.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=95.91;MQ0=0;OQ=1090.79;QD=16.78;RankSumP=0.184905;SB=-248.65;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.243G>C;refseq.codonCoord=81;refseq.end=21259490;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=948;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R81R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=299;refseq.start=21259490;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr17 21259505 rs35011501 C A 0.58 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=10.78;MQ=95.08;MQ0=0;OQ=200.04;QD=4.08;SB=-47.69;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.258C>A;refseq.codonCoord=86;refseq.end=21259505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=963;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I86I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=314;refseq.start=21259505;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=gatk GT:AD:DP:GL:GQ 0/1:39,10:47:-37.44,-14.15,-150.82:99 chr17 21259511 . G A 4.61 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=8.95;MQ=95.66;MQ0=0;OQ=597.71;QD=12.72;SB=-156.59;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.264G>A;refseq.codonCoord=88;refseq.end=21259511;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S88S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=320;refseq.start=21259511;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=gatk GT:AD:DP:GL:GQ 0/1:27,20:44:-76.31,-13.25,-99.95:99 chr17 21259541 . C T 384.57 SnpCluster AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=2;HaplotypeScore=8.00;MQ=93.17;MQ0=0;QD=13.26;SB=-90.53;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.294C>T;refseq.codonCoord=98;refseq.end=21259541;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=999;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.F98F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=350;refseq.start=21259541;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:16,13:28:-50.17,-8.43,-62.14:99 chr17 21259544 . C T 291.33 SnpCluster AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=95.02;MQ0=0;QD=9.71;SB=-32.96;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.297C>T;refseq.codonCoord=99;refseq.end=21259544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G99G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=353;refseq.start=21259544;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:19,11:29:-41.15,-8.73,-73.74:99 chr17 21259545 . A G 674.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=95.15;MQ0=0;QD=21.75;RankSumP=0.474858;SB=-362.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.298A>G;refseq.codonCoord=100;refseq.end=21259545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I100V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=354;refseq.start=21259545;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap-filterIngatk GT 0/1 chr17 21259562 . C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.97;MQ0=0;OQ=257.22;QD=6.43;SB=-10.84;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.315C>T;refseq.codonCoord=105;refseq.end=21259562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1020;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I105I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=371;refseq.start=21259562;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:30,10:40:-41.05,-12.05,-119.37:99 chr17 21259574 rs9909970 C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=95.93;MQ0=0;OQ=188.37;QD=3.62;SB=-10.29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.327C>T;refseq.codonCoord=109;refseq.end=21259574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.H109H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=383;refseq.start=21259574;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:42,10:50:-37.18,-15.06,-157.89:99 chr17 21259600 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=12.74;MQ=94.99;MQ0=0;OQ=1089.34;QD=14.52;RankSumP=0.561106;SB=-172.64;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.353G>A;refseq.codonCoord=118;refseq.end=21259600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R118Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=409;refseq.start=21259600;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 21259601 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=94.99;MQ0=0;OQ=1722.66;QD=22.97;RankSumP=0.442528;SB=-373.15;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.354G>C;refseq.codonCoord=118;refseq.end=21259601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R118R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=410;refseq.start=21259601;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr17 21259662 . G A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=190;Dels=0.00;HRun=1;HaplotypeScore=22.54;MQ=94.73;MQ0=0;OQ=464.47;QD=2.44;SB=-208.42;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.415G>A;refseq.codonCoord=139;refseq.end=21259662;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1120;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E139K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=471;refseq.start=21259662;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:138,36:111:-83.17,-33.44,-342.77:99 chr17 21259672 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=1;HaplotypeScore=29.64;MQ=95.40;MQ0=0;OQ=602.55;QD=2.69;SB=-194.90;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.425C>A;refseq.codonCoord=142;refseq.end=21259672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T142N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=481;refseq.start=21259672;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:178,46:153:-109.61,-46.07,-489.84:99 chr17 21259680 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=0;HaplotypeScore=26.15;MQ=95.62;MQ0=0;OQ=838.34;QD=3.54;SB=-273.47;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.433G>A;refseq.codonCoord=145;refseq.end=21259680;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G145S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=489;refseq.start=21259680;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:181,43:179:-141.04,-53.92,-543.71:99 chr17 21259703 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=309;Dels=0.00;HRun=0;HaplotypeScore=20.13;MQ=96.73;MQ0=0;OQ=1815.14;QD=5.87;RankSumP=0.0682036;SB=-385.50;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.456G>A;refseq.codonCoord=152;refseq.end=21259703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1161;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T152T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=512;refseq.start=21259703;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr17 21259714 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=31.60;MQ=97.10;MQ0=0;OQ=4257.26;QD=11.83;RankSumP=0.0135660;SB=-1283.46;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.467C>T;refseq.codonCoord=156;refseq.end=21259714;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1172;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P156L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=523;refseq.start=21259714;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr17 21259764 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=522;Dels=0.00;HRun=1;HaplotypeScore=9.11;MQ=97.94;MQ0=0;OQ=5904.55;QD=11.31;RankSumP=0.226095;SB=-2022.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.517G>A;refseq.codonCoord=173;refseq.end=21259764;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D173N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=573;refseq.start=21259764;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr17 21259801 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=438;Dels=0.00;HRun=0;HaplotypeScore=13.91;MQ=97.85;MQ0=0;OQ=3101.74;QD=7.08;RankSumP=0.438913;SB=-992.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.554C>T;refseq.codonCoord=185;refseq.end=21259801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1259;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A185V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=610;refseq.start=21259801;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr17 21259823 . G C 250.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=8.44;MQ=97.78;MQ0=0;OQ=5319.10;QD=14.57;RankSumP=0.0131806;SB=-1361.23;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.576G>C;refseq.codonCoord=192;refseq.end=21259823;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q192H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=632;refseq.start=21259823;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 21259844 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=310;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=96.95;MQ0=0;OQ=2122.01;QD=6.85;RankSumP=0.390104;SB=-509.27;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.597C>T;refseq.codonCoord=199;refseq.end=21259844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N199N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=653;refseq.start=21259844;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr17 21259865 . C T 0.05 PASS AC=1;AF=0.50;AN=2;DP=275;Dels=0.00;HRun=0;HaplotypeScore=4.01;MQ=95.48;MQ0=0;OQ=1692.04;QD=6.15;SB=-582.36;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.618C>T;refseq.codonCoord=206;refseq.end=21259865;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1323;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D206D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=674;refseq.start=21259865;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=gatk GT:AD:DP:GL:GQ 0/1:211,63:254:-249.00,-76.51,-712.57:99 chr17 21259878 . C T 0.13 PASS AC=1;AF=0.50;AN=2;DP=247;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=95.28;MQ0=0;OQ=1638.79;QD=6.63;SB=-594.27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.631C>T;refseq.codonCoord=211;refseq.end=21259878;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1336;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L211F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=687;refseq.start=21259878;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=gatk GT:AD:DP:GL:GQ 0/1:192,54:224:-234.61,-67.45,-696.96:99 chr17 21259895 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=44.96;MQ=94.50;MQ0=0;OQ=4640.57;QD=21.19;RankSumP=0.0964953;SB=-1781.67;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.648T>C;refseq.codonCoord=216;refseq.end=21259895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1353;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G216G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=704;refseq.start=21259895;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr17 21259904 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=234;Dels=0.00;HRun=0;HaplotypeScore=56.76;MQ=95.19;MQ0=0;OQ=954.65;QD=4.08;SB=-323.83;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=21259904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1362;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R219R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=713;refseq.start=21259904;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:189,43:203:-159.89,-61.14,-661.76:99 chr17 21259962 . G A 0.10 PASS AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=1;HaplotypeScore=8.11;MQ=95.89;MQ0=0;OQ=801.82;QD=3.35;SB=-375.48;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.715G>A;refseq.codonCoord=239;refseq.end=21259962;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E239K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=771;refseq.start=21259962;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:204,35:222:-150.34,-66.87,-702.76:99 chr17 21259985 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=267;Dels=0.00;HRun=0;HaplotypeScore=38.87;MQ=96.13;MQ0=0;OQ=546.50;QD=2.05;SB=-286.53;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.738G>A;refseq.codonCoord=246;refseq.end=21259985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L246L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=794;refseq.start=21259985;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:233,34:248:-132.61,-74.68,-899.85:99 chr17 21259992 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=61.09;MQ=96.27;MQ0=0;OQ=1072.42;QD=3.99;RankSumP=0.133967;SB=-345.95;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.745A>G;refseq.codonCoord=249;refseq.end=21259992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1450;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I249V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=801;refseq.start=21259992;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap-filterIngatk GT 0/1 chr17 21260000 rs16962951 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=38.52;MQ=96.07;MQ0=0;OQ=411.64;QD=1.39;SB=-196.57;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.753C>T;refseq.codonCoord=251;refseq.end=21260000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1458;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I251I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=809;refseq.start=21260000;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:266,31:280:-128.78,-84.33,-968.36:99 chr17 21260066 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=32.49;MQ=85.61;MQ0=1;OQ=6437.13;QD=18.60;RankSumP=0.0686686;SB=-2643.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.819G>A;refseq.codonCoord=273;refseq.end=21260066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E273E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=875;refseq.start=21260066;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr17 21260136 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=432;Dels=0.00;HRun=0;HaplotypeScore=23.84;MQ=52.31;MQ0=117;OQ=571.64;QD=1.32;SB=274.37;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.889G>A;refseq.codonCoord=297;refseq.end=21260136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1594;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V297I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=945;refseq.start=21260136;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:390,36:262:-139.35,-78.90,-918.89:99 chr17 21260153 . G T 7 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=471;Dels=0.00;HRun=1;HaplotypeScore=41.32;MQ=47.44;MQ0=115;OQ=1175.72;QD=2.50;RankSumP=0.177404;SB=156.99;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.906G>T;refseq.codonCoord=302;refseq.end=21260153;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1611;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.M302I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=962;refseq.start=21260153;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 0/1 chr17 21260275 . C T 0.19 PASS AC=1;AF=0.50;AN=2;DP=734;Dels=0.00;HRun=1;HaplotypeScore=18.46;MQ=65.78;MQ0=3;OQ=1276.56;QD=1.74;SB=-654.22;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1028C>T;refseq.codonCoord=343;refseq.end=21260275;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1733;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S343L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=1084;refseq.start=21260275;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=gatk GT:AD:DP:GL:GQ 0/1:648,84:704:-346.15,-215.21,-2420.16:99 chr17 21260309 . G A 0.08 PASS AC=1;AF=0.50;AN=2;DP=508;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=76.66;MQ0=2;OQ=1214.93;QD=2.39;SB=-328.77;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1062G>A;refseq.codonCoord=354;refseq.end=21260309;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1767;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T354T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1118;refseq.start=21260309;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=gatk GT:AD:DP:GL:GQ 0/1:439,68:490:-272.35,-147.58,-1650.86:99 chr17 21260321 . T C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=444;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=82.34;MQ0=2;OQ=954.91;QD=2.15;SB=-94.44;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1074T>C;refseq.codonCoord=358;refseq.end=21260321;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1779;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S358S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1130;refseq.start=21260321;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:375,64:422:-225.88,-127.10,-1516.55:99 chr17 21260336 . A G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=386;Dels=0.00;HRun=1;HaplotypeScore=6.46;MQ=89.26;MQ0=1;OQ=818.43;QD=2.12;SB=6.80;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1089A>G;refseq.codonCoord=363;refseq.end=21260336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1794;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V363V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=1145;refseq.start=21260336;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:337,49:373:-197.46,-112.33,-1390.78:99 chr17 21260360 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=74.02;MQ=95.20;MQ0=0;OQ=10075.84;QD=26.04;RankSumP=0.111959;SB=-2810.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1113C>T;refseq.codonCoord=371;refseq.end=21260360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S371S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1169;refseq.start=21260360;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 0/1 chr17 21260378 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=92.53;MQ=92.87;MQ0=1;OQ=7014.11;QD=17.32;RankSumP=0.102303;SB=-2406.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1131C>T;refseq.codonCoord=377;refseq.end=21260378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1836;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y377Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=1187;refseq.start=21260378;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap-filterIngatk GT 0/1 chr17 21260379 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=404;Dels=0.00;HRun=1;HaplotypeScore=91.85;MQ=92.73;MQ0=1;OQ=2258.65;QD=5.59;SB=-1145.74;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1132G>A;refseq.codonCoord=378;refseq.end=21260379;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1837;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E378K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1188;refseq.start=21260379;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:319,85:376:-342.37,-113.22,-1204.27:99 chr17 21260438 . C T 0.05 PASS AC=1;AF=0.50;AN=2;DP=234;Dels=0.00;HRun=0;HaplotypeScore=20.70;MQ=86.02;MQ0=1;OQ=858.34;QD=3.67;SB=-84.57;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1191C>T;refseq.codonCoord=397;refseq.end=21260438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1896;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D397D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1247;refseq.start=21260438;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=gatk GT:AD:DP:GL:GQ 0/1:171,50:160:-137.35,-48.23,-434.55:99 chr17 21260453 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=76.18;MQ=87.31;MQ0=0;OQ=1709.89;QD=9.88;RankSumP=0.120261;SB=-200.59;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1206C>T;refseq.codonCoord=402;refseq.end=21260453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1911;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D402D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1262;refseq.start=21260453;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 0/1 chr17 21260461 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=68.59;MQ=90.65;MQ0=0;OQ=809.41;QD=5.62;SB=-270.29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1214G>T;refseq.codonCoord=405;refseq.end=21260461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1919;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S405I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1270;refseq.start=21260461;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:107,37:122:-120.96,-36.74,-373.33:99 chr17 21260501 . C T 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=109;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=93.39;MQ0=0;OQ=628.28;QD=5.76;RankSumP=0.127120;SB=-304.25;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1254C>T;refseq.codonCoord=418;refseq.end=21260501;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G418G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1310;refseq.start=21260501;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 21260536 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=74;Dels=0.00;HRun=3;HaplotypeScore=5.08;MQ=91.85;MQ0=2;OQ=673.19;QD=9.10;RankSumP=0.744118;SB=-73.87;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1289A>G;refseq.codonCoord=430;refseq.end=21260536;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1994;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E430G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1345;refseq.start=21260536;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr17 21260548 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=89.80;MQ0=2;OQ=254.50;QD=4.63;SB=-86.31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1301G>A;refseq.codonCoord=434;refseq.end=21260548;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2006;refseq.name=NM_021012;refseq.name2=KCNJ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.*434*;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=1357;refseq.start=21260548;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:41,13:44:-41.98,-13.25,-137.56:99 chr17 22652947 . T C 236.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.90;MQ0=0;OQ=7682.45;QD=22.80;RankSumP=0.355909;SB=-1629.47;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.47T>C;refseq.codonCoord_2=16;refseq.end_1=22655922;refseq.end_2=22652947;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=363;refseq.name2_1=WSB1;refseq.name2_2=WSB1;refseq.name_1=NM_134265;refseq.name_2=NM_015626;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L16S;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTA;refseq.spliceDist_2=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=22645599;refseq.start_2=22652947;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr17 23113994 . T C 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=96.74;MQ0=0;OQ=321.87;QD=22.99;RankSumP=1.00000;SB=-86.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2757A>G;refseq.codonCoord=919;refseq.end=23113994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3021;refseq.name=NM_000625;refseq.name2=NOS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T919T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-44;refseq.start=23113994;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 23116758 . A G 294.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=96.24;MQ0=0;OQ=6011.99;QD=37.11;RankSumP=1.00000;SB=-2751.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2358T>C;refseq.codonCoord=786;refseq.end=23116758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2622;refseq.name=NM_000625;refseq.name2=NOS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G786G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-71;refseq.start=23116758;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 23670432 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.40C>G;refseq.codonCoord=14;refseq.end=23670432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_014573;refseq.name2=TMEM97;refseq.positionType=CDS;refseq.proteinCoordStr=p.L14V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-87;refseq.start=23670432;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr17 23846826 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_2=c.1482A>G;refseq.codingCoordStr_3=c.1206A>G;refseq.codingCoordStr_4=c.1335A>G;refseq.codonCoord_2=494;refseq.codonCoord_3=402;refseq.codonCoord_4=445;refseq.end_1=23846826;refseq.end_2=23846826;refseq.end_3=23846826;refseq.end_4=23846826;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1543;refseq.mrnaCoord_2=1549;refseq.mrnaCoord_3=1273;refseq.mrnaCoord_4=1402;refseq.name2_1=SLC13A2;refseq.name2_2=SLC13A2;refseq.name2_3=SLC13A2;refseq.name2_4=SLC13A2;refseq.name_1=NR_027384;refseq.name_2=NM_001145975;refseq.name_3=NM_001145976;refseq.name_4=NM_003984;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.G494G;refseq.proteinCoordStr_3=p.G402G;refseq.proteinCoordStr_4=p.G445G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=23846826;refseq.start_2=23846826;refseq.start_3=23846826;refseq.start_4=23846826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr17 23880331 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.792G>C;refseq.codonCoord=264;refseq.end=23880331;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=821;refseq.name=NM_003593;refseq.name2=FOXN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G264G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-39;refseq.start=23880331;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr17 23880333 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=169;Dels=0.00;HRun=2;HaplotypeScore=23.28;MQ=96.21;MQ0=0;OQ=138.21;QD=0.82;RankSumP=0.00000;SB=188.62;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.794A>C;refseq.codonCoord=265;refseq.end=23880333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_003593;refseq.name2=FOXN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H265P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-37;refseq.start=23880333;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 23886004 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=785.08;QD=17.84;RankSumP=0.391072;SB=-391.51;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1288C>T;refseq.codonCoord=430;refseq.end=23886004;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_003593;refseq.name2=FOXN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P430S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=153;refseq.start=23886004;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr17 23898485 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.680T>G;refseq.codingCoordStr_2=c.*284T>G;refseq.codonCoord_1=227;refseq.end_1=23898485;refseq.end_2=23898485;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=751;refseq.mrnaCoord_2=1018;refseq.name2_1=UNC119;refseq.name2_2=UNC119;refseq.name_1=NM_005148;refseq.name_2=NM_054035;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.V227G;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTG;refseq.spliceDist_1=70;refseq.spliceDist_2=510;refseq.start_1=23898485;refseq.start_2=23898485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGG;set=FilteredInAll GT 0/1 chr17 23979457 . A C 180.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=331;Dels=0.00;HRun=1;HaplotypeScore=7.50;MQ=98.95;MQ0=0;OQ=6516.08;QD=19.69;RankSumP=0.467181;SB=-2685.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4547T>G;refseq.codonCoord=1516;refseq.end=23979457;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4646;refseq.name=NM_014680;refseq.name2=KIAA0100;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1516G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-48;refseq.start=23979457;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 24038523 . C T 140.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=298;Dels=0.00;HRun=1;HaplotypeScore=7.91;MQ=98.84;MQ0=0;OQ=5795.97;QD=19.45;RankSumP=0.494908;SB=-1513.79;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2913C>T;refseq.codonCoord=971;refseq.end=24038523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3003;refseq.name=NM_003170;refseq.name2=SUPT6H;refseq.positionType=CDS;refseq.proteinCoordStr=p.V971V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=75;refseq.start=24038523;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr17 24038610 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.46;MQ0=0;OQ=1905.86;QD=13.71;RankSumP=0.256471;SB=-372.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3000C>A;refseq.codonCoord=1000;refseq.end=24038610;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3090;refseq.name=NM_003170;refseq.name2=SUPT6H;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1000L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=24038610;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr17 24040708 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr17;refseq.codingCoordStr=c.3342+2;refseq.end=24040708;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_003170;refseq.name2=SUPT6H;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=24040708;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr17 24046560 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3838A>C;refseq.codonCoord=1280;refseq.end=24046560;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3928;refseq.name=NM_003170;refseq.name2=SUPT6H;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1280P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=64;refseq.start=24046560;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 24051352 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4596A>C;refseq.codonCoord=1532;refseq.end=24051352;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4686;refseq.name=NM_003170;refseq.name2=SUPT6H;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1532T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=35;refseq.start=24051352;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr17 24055450 . A C 40 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00766798;SecondBestBaseQ=14;refseq.chr=chr17;refseq.codingCoordStr=c.356+2;refseq.end=24055450;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_152465;refseq.name2=PROCA1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=24055450;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr17 24076485 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=105.77;MQ=98.46;MQ0=0;OQ=3061.90;QD=8.28;RankSumP=0.336222;SB=-281.19;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.183G>A;refseq.codingCoordStr_2=c.324G>A;refseq.codonCoord_1=61;refseq.codonCoord_2=108;refseq.end_1=24076485;refseq.end_2=24076485;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=306;refseq.mrnaCoord_2=439;refseq.name2_1=TLCD1;refseq.name2_2=TLCD1;refseq.name_1=NM_001160407;refseq.name_2=NM_138463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T61T;refseq.proteinCoordStr_2=p.T108T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=24076485;refseq.start_2=24076485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=soap-filterIngatk GT 0/1 chr17 24076495 . C T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=1.97258e-06;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.173G>A;refseq.codingCoordStr_2=c.314G>A;refseq.codonCoord_1=58;refseq.codonCoord_2=105;refseq.end_1=24076495;refseq.end_2=24076495;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=429;refseq.name2_1=TLCD1;refseq.name2_2=TLCD1;refseq.name_1=NM_001160407;refseq.name_2=NM_138463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S58N;refseq.proteinCoordStr_2=p.S105N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=24076495;refseq.start_2=24076495;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr17 24088990 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.916G>A;refseq.codonCoord=306;refseq.end=24088990;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_178170;refseq.name2=NEK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A306T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=27;refseq.start=24088990;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 24088991 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.917C>A;refseq.codonCoord=306;refseq.end=24088991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_178170;refseq.name2=NEK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A306D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=28;refseq.start=24088991;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr17 24089338 . T C 144.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.53;MQ0=0;OQ=2504.13;QD=12.46;RankSumP=0.0552940;SB=-811.27;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1170T>C;refseq.codonCoord=390;refseq.end=24089338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_178170;refseq.name2=NEK8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G390G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-53;refseq.start=24089338;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr17 24099055 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=1.22961e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.263A>G;refseq.codonCoord=88;refseq.end=24099055;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_004295;refseq.name2=TRAF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E88G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-38;refseq.start=24099055;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 24099550 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=97.53;MQ0=0;OQ=2623.75;QD=16.82;RankSumP=0.274822;SB=-960.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.606C>T;refseq.codonCoord=202;refseq.end=24099550;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=714;refseq.name=NM_004295;refseq.name2=TRAF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F202F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-19;refseq.start=24099550;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr17 24209953 . C T 234.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.86;MQ0=0;OQ=2573.65;QD=14.54;RankSumP=0.168254;SB=-808.71;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.945C>T;refseq.codonCoord=315;refseq.end=24209953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_005702;refseq.name2=ERAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D315D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=24209953;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr17 24234374 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.224T>G;refseq.codonCoord=75;refseq.end=24234374;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_004475;refseq.name2=FLOT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V75G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=24234374;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 24252324 . G A 284.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.70;MQ0=0;OQ=3024.58;QD=19.77;RankSumP=0.251672;SB=-1002.51;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=24252324;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_144683;refseq.name2=DHRS13;refseq.positionType=CDS;refseq.proteinCoordStr=p.R164R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=122;refseq.start=24252324;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr17 24604882 . C T 222.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=6.91;MQ=98.85;MQ0=0;OQ=3022.84;QD=17.99;RankSumP=0.282800;SB=-1112.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.456C>T;refseq.codonCoord=152;refseq.end=24604882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=463;refseq.name=NM_005208;refseq.name2=CRYBA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G152G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-45;refseq.start=24604882;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 24637803 . G A 350.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=98.56;MQ0=0;OQ=5893.80;QD=19.91;RankSumP=0.00705195;SB=-1441.69;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1335C>T;refseq.codonCoord=445;refseq.end=24637803;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1424;refseq.name=NM_020772;refseq.name2=NUFIP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P445P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-668;refseq.start=24637803;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr17 24913704 . T C 464.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.70;MQ0=0;OQ=7167.27;QD=39.38;RankSumP=1.00000;SB=-2428.87;SecondBestBaseQ=0;refseq.chr=chr17;refseq.codingCoordStr=c.*1A>G;refseq.end=24913704;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=1466;refseq.name=NM_198147;refseq.name2=ABHD15;refseq.positionType=utr3;refseq.spliceDist=527;refseq.start=24913704;refseq.transcriptStrand=-;set=Intersection GT 1/1 chr17 24914112 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=25.46;MQ=98.31;MQ0=0;OQ=11801.62;QD=35.23;RankSumP=1.00000;SB=-3406.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1000A>G;refseq.codonCoord=334;refseq.end=24914112;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_198147;refseq.name2=ABHD15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T334A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=119;refseq.start=24914112;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 24928837 . G A 190.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.85;MQ=98.79;MQ0=0;OQ=5159.50;QD=35.58;RankSumP=1.00000;SB=-1978.04;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.960C>T;refseq.codingCoordStr_2=c.933C>T;refseq.codonCoord_1=320;refseq.codonCoord_2=311;refseq.end_1=24928837;refseq.end_2=24928837;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1174;refseq.mrnaCoord_2=1147;refseq.name2_1=GIT1;refseq.name2_2=GIT1;refseq.name_1=NM_001085454;refseq.name_2=NM_014030;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A320A;refseq.proteinCoordStr_2=p.A311A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=24928837;refseq.start_2=24928837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr17 24959220 . C G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.514814;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.341C>G;refseq.codonCoord=114;refseq.end=24959220;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_152345;refseq.name2=ANKRD13B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A114G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-35;refseq.start=24959220;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr17 24999394 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1240A>G;refseq.codonCoord=414;refseq.end=24999394;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_033389;refseq.name2=SSH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N414D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=95;refseq.start=24999394;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr17 25468309 . A C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=213.45;QD=35.58;RankSumP=1.00000;SB=-97.15;SecondBestBaseQ=0;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.end_1=25469213;refseq.end_2=25468309;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=87;refseq.name2_1=CCDC55;refseq.name2_2=MIR423;refseq.name_1=NM_032141;refseq.name_2=NR_029945;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=25468018;refseq.start_2=25468309;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=filterInsoap-gatk GT 1/1 chr17 25536104 . G A 199.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=327;Dels=0.00;HRun=1;HaplotypeScore=8.29;MQ=91.97;MQ0=3;OQ=13696.56;QD=41.89;RankSumP=1.00000;SB=-5751.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.963G>A;refseq.codonCoord=321;refseq.end=25536104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_032141;refseq.name2=CCDC55;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q321Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=346;refseq.start=25536104;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr17 25772888 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1218T>G;refseq.codonCoord=406;refseq.end=25772888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_001304;refseq.name2=CPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.G406G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=81;refseq.start=25772888;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 25802943 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.74;MQ=98.59;MQ0=0;OQ=4727.24;QD=22.62;RankSumP=0.158090;SB=-1194.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3158T>C;refseq.codonCoord=1053;refseq.end=25802943;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3173;refseq.name=NM_001304;refseq.name2=CPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1053T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-48;refseq.start=25802943;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr17 26185629 . A G 291.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2700.69;QD=40.92;RankSumP=1.00000;SB=-975.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.404A>G;refseq.codonCoord=135;refseq.end=26185629;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_024857;refseq.name2=ATAD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E135G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=338;refseq.start=26185629;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 26244662 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4665A>C;refseq.codonCoord=1555;refseq.end=26244662;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5008;refseq.name=NM_024857;refseq.name2=ATAD5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1555D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=225;refseq.start=26244662;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr17 26322261 . C G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=2;RankSumP=0.571429;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.44C>G;refseq.codingCoordStr_2=c.44C>G;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=26322261;refseq.end_2=26322261;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=180;refseq.mrnaCoord_2=180;refseq.name2_1=RNF135;refseq.name2_2=RNF135;refseq.name_1=NM_032322;refseq.name_2=NM_197939;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A15G;refseq.proteinCoordStr_2=p.A15G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=180;refseq.spliceDist_2=180;refseq.start_1=26322261;refseq.start_2=26322261;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr17 26532931 . T G 13.23 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=215;Dels=0.00;HRun=2;HaplotypeScore=29.59;MQ=96.41;MQ0=0;QD=0.06;RankSumP=0.00000;SB=356.98;SecondBestBaseQ=12;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.730+2;refseq.codingCoordStr_2=c.730+2;refseq.codingCoordStr_3=c.730+2;refseq.end_1=26532931;refseq.end_2=26532931;refseq.end_3=26532931;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name2_3=NF1;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.name_3=NM_001128147;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=26532931;refseq.start_2=26532931;refseq.start_3=26532931;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr17 26577611 . G A 310.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=4.93;MQ=94.54;MQ0=0;OQ=7897.39;QD=37.08;RankSumP=1.00000;SB=-2501.16;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2034G>A;refseq.codingCoordStr_2=c.2034G>A;refseq.codonCoord_1=678;refseq.codonCoord_2=678;refseq.end_1=26577611;refseq.end_2=26577611;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2417;refseq.mrnaCoord_2=2417;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P678P;refseq.proteinCoordStr_2=p.P678P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=26577611;refseq.start_2=26577611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr17 26580454 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2695T>G;refseq.codingCoordStr_2=c.2695T>G;refseq.codonCoord_1=899;refseq.codonCoord_2=899;refseq.end_1=26580454;refseq.end_2=26580454;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3078;refseq.mrnaCoord_2=3078;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L899V;refseq.proteinCoordStr_2=p.L899V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-156;refseq.spliceDist_2=-156;refseq.start_1=26580454;refseq.start_2=26580454;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr17 26647414 . C T 322.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.76;MQ0=0;OQ=9928.39;QD=41.20;RankSumP=1.00000;SB=-4099.85;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.62G>A;refseq.codonCoord_3=21;refseq.end_1=26676953;refseq.end_2=26676953;refseq.end_3=26647414;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=275;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name2_3=OMG;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.name_3=NM_002544;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.G21D;refseq.referenceAA_3=Gly;refseq.referenceCodon_3=GGT;refseq.spliceDist_3=68;refseq.start_1=26616494;refseq.start_2=26616494;refseq.start_3=26647414;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr17 26689931 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=2.60716e-09;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.6840A>C;refseq.codingCoordStr_2=c.6903A>C;refseq.codonCoord_1=2280;refseq.codonCoord_2=2301;refseq.end_1=26689931;refseq.end_2=26689931;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7223;refseq.mrnaCoord_2=7286;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2280F;refseq.proteinCoordStr_2=p.L2301F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=26689931;refseq.start_2=26689931;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 0/1 chr17 26710132 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.8070G>T;refseq.codingCoordStr_2=c.8133G>T;refseq.codonCoord_1=2690;refseq.codonCoord_2=2711;refseq.end_1=26710132;refseq.end_2=26710132;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8453;refseq.mrnaCoord_2=8516;refseq.name2_1=NF1;refseq.name2_2=NF1;refseq.name_1=NM_000267;refseq.name_2=NM_001042492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L2690F;refseq.proteinCoordStr_2=p.L2711F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=26710132;refseq.start_2=26710132;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr17 27207970 . T C 185.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=98.78;MQ0=0;OQ=2419.63;QD=14.58;RankSumP=0.324288;SB=-1149.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.127A>G;refseq.codonCoord=43;refseq.end=27207970;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=235;refseq.name=NM_018405;refseq.name2=C17orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.S43G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=28;refseq.start=27207970;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr17 27246115 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=999.40;QD=21.73;RankSumP=0.505106;SB=-464.18;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.206A>G;refseq.codonCoord=69;refseq.end=27246115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=289;refseq.name=NM_018428;refseq.name2=UTP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q69R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-14;refseq.start=27246115;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 27288598 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.285714;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.220C>A;refseq.codonCoord=74;refseq.end=27288598;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=442;refseq.name=NM_015355;refseq.name2=SUZ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P74T;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-55;refseq.start=27288598;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 1/0 chr17 27327695 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.444444;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.866A>G;refseq.codonCoord=289;refseq.end=27327695;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_015355;refseq.name2=SUZ12;refseq.positionType=CDS;refseq.proteinCoordStr=p.E289G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=43;refseq.start=27327695;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 27375871 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.604425;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1708C>A;refseq.codonCoord=570;refseq.end=27375871;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1719;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L570I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=29;refseq.start=27375871;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr17 27378933 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.438090;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1784C>A;refseq.codonCoord=595;refseq.end=27378933;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1795;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P595H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=33;refseq.start=27378933;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 1/0 chr17 27378960 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.174212;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1811A>C;refseq.codonCoord=604;refseq.end=27378960;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1822;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y604S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-13;refseq.start=27378960;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr17 27378973 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.446806;SecondBestBaseQ=33;refseq.chr=chr17;refseq.codingCoordStr=c.1823+1;refseq.end=27378973;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=27378973;refseq.transcriptStrand=+;set=soap GT 1/0 chr17 27381827 . A T 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.518266;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1863A>T;refseq.codonCoord=621;refseq.end=27381827;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1874;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q621H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-33;refseq.start=27381827;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr17 27382535 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.303956;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1921A>G;refseq.codonCoord=641;refseq.end=27382535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1932;refseq.name=NM_052888;refseq.name2=LRRC37B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K641E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=26;refseq.start=27382535;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 0/1 chr17 27558083 . A G 111.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=98.79;MQ0=0;OQ=4426.20;QD=22.93;RankSumP=0.293653;SB=-372.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1458A>G;refseq.codingCoordStr_2=c.1458A>G;refseq.codingCoordStr_3=c.1458A>G;refseq.codonCoord_1=486;refseq.codonCoord_2=486;refseq.codonCoord_3=486;refseq.end_1=27558083;refseq.end_2=27558083;refseq.end_3=27558083;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1697;refseq.mrnaCoord_2=1697;refseq.mrnaCoord_3=1697;refseq.name2_1=RHOT1;refseq.name2_2=RHOT1;refseq.name2_3=RHOT1;refseq.name_1=NM_001033566;refseq.name_2=NM_001033568;refseq.name_3=NM_018307;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E486E;refseq.proteinCoordStr_2=p.E486E;refseq.proteinCoordStr_3=p.E486E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=27558083;refseq.start_2=27558083;refseq.start_3=27558083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr17 27649318 . G A 219.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.47;MQ0=0;OQ=1917.19;QD=16.25;RankSumP=0.102496;SB=-374.46;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.763G>A;refseq.codonCoord=255;refseq.end=27649318;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=777;refseq.name=NM_138328;refseq.name2=RHBDL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V255M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-19;refseq.start=27649318;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr17 27716509 . G T 233.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=14.34;MQ=99.00;MQ0=0;OQ=4037.95;QD=16.22;RankSumP=0.166448;SB=-1135.34;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.718G>T;refseq.codingCoordStr_2=c.718G>T;refseq.codingCoordStr_3=c.670G>T;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.codonCoord_3=224;refseq.end_1=27716509;refseq.end_2=27716509;refseq.end_3=27716509;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=866;refseq.mrnaCoord_2=866;refseq.mrnaCoord_3=818;refseq.name2_1=ZNF207;refseq.name2_2=ZNF207;refseq.name2_3=ZNF207;refseq.name_1=NM_001032293;refseq.name_2=NM_001098507;refseq.name_3=NM_003457;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A240S;refseq.proteinCoordStr_2=p.A240S;refseq.proteinCoordStr_3=p.A224S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.spliceDist_3=48;refseq.start_1=27716509;refseq.start_2=27716509;refseq.start_3=27716509;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 0/1 chr17 29607382 . T C 311.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=11.65;MQ=98.84;MQ0=0;OQ=8041.67;QD=19.42;RankSumP=0.205428;SB=-3260.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.105T>C;refseq.codonCoord=35;refseq.end=29607382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_002982;refseq.name2=CCL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C35C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=29;refseq.start=29607382;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr17 29928699 . C T 169.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3440.50;QD=43.55;RankSumP=1.00000;SB=-234.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.464G>A;refseq.codonCoord=155;refseq.end=29928699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=553;refseq.name=NM_207454;refseq.name2=C17orf102;refseq.positionType=CDS;refseq.proteinCoordStr=p.R155K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=54;refseq.start=29928699;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr17 29977371 . G A 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=96.71;MQ0=0;OQ=122.34;QD=5.83;RankSumP=0.530728;SB=-3.98;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.180G>A;refseq.codonCoord=60;refseq.end=29977371;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_207313;refseq.name2=TMEM132E;refseq.positionType=CDS;refseq.proteinCoordStr=p.E60E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=113;refseq.start=29977371;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr17 29980199 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=489;Dels=0.00;HRun=2;HaplotypeScore=50.74;MQ=97.35;MQ0=0;OQ=166.28;QD=0.34;RankSumP=0.00000;SB=739.37;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.931A>C;refseq.codonCoord=311;refseq.end=29980199;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1259;refseq.name=NM_207313;refseq.name2=TMEM132E;refseq.positionType=CDS;refseq.proteinCoordStr=p.T311P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=56;refseq.start=29980199;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 29986107 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1595T>G;refseq.codonCoord=532;refseq.end=29986107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1923;refseq.name=NM_207313;refseq.name2=TMEM132E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V532G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-113;refseq.start=29986107;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 29986110 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1598A>G;refseq.codonCoord=533;refseq.end=29986110;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1926;refseq.name=NM_207313;refseq.name2=TMEM132E;refseq.positionType=CDS;refseq.proteinCoordStr=p.E533G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-110;refseq.start=29986110;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 30310777 . A G 214 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=98.90;MQ0=0;OQ=6838.80;QD=19.54;RankSumP=0.327223;SB=-2328.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.143T>C;refseq.codonCoord=48;refseq.end=30310777;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_006584;refseq.name2=CCT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V48A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=30310777;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr17 30312476 . C T 311.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=6.68;MQ=97.68;MQ0=0;OQ=4083.23;QD=19.54;RankSumP=0.141889;SB=-954.18;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.50G>A;refseq.codonCoord=17;refseq.end=30312476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=144;refseq.name=NM_006584;refseq.name2=CCT6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R17Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-88;refseq.start=30312476;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr17 30312768 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.70T>G;refseq.codonCoord=24;refseq.end=30312768;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_052857;refseq.name2=ZNF830;refseq.positionType=CDS;refseq.proteinCoordStr=p.L24V;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=107;refseq.start=30312768;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 1/0 chr17 30312995 . T G 442.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.94;MQ0=0;OQ=3936.85;QD=39.37;RankSumP=1.00000;SB=-1575.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.297T>G;refseq.codonCoord=99;refseq.end=30312995;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_052857;refseq.name2=ZNF830;refseq.positionType=CDS;refseq.proteinCoordStr=p.H99Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=334;refseq.start=30312995;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 30353091 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2529A>G;refseq.codingCoordStr_2=c.2529A>G;refseq.codonCoord_1=843;refseq.codonCoord_2=843;refseq.end_1=30353091;refseq.end_2=30353091;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2637;refseq.mrnaCoord_2=2637;refseq.name2_1=LIG3;refseq.name2_2=LIG3;refseq.name_1=NM_002311;refseq.name_2=NM_013975;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G843G;refseq.proteinCoordStr_2=p.G843G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=30353091;refseq.start_2=30353091;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 30457600 . C T 421.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=5347.88;QD=41.78;RankSumP=1.00000;SB=-1406.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.554G>A;refseq.codingCoordStr_2=c.494G>A;refseq.codingCoordStr_3=c.158G>A;refseq.codonCoord_1=185;refseq.codonCoord_2=165;refseq.codonCoord_3=53;refseq.end_1=30457600;refseq.end_2=30457600;refseq.end_3=30457600;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=750;refseq.mrnaCoord_3=414;refseq.name2_1=RAD51L3;refseq.name2_2=RAD51L3;refseq.name2_3=RAD51L3;refseq.name_1=NM_001142571;refseq.name_2=NM_002878;refseq.name_3=NM_133629;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R185Q;refseq.proteinCoordStr_2=p.R165Q;refseq.proteinCoordStr_3=p.R53Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=30457600;refseq.start_2=30457600;refseq.start_3=30457600;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chr17 30469631 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.263+2;refseq.end_1=30470232;refseq.end_2=30470232;refseq.end_3=30469631;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=RAD51L3;refseq.name2_2=RAD51L3;refseq.name2_3=RAD51L3;refseq.name_1=NM_133629;refseq.name_2=NM_001142571;refseq.name_3=NM_002878;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_3=2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=30457624;refseq.start_2=30468180;refseq.start_3=30469631;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr17 30469662 . G A 223.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=12.44;MQ=98.15;MQ0=0;OQ=6280.29;QD=18.26;RankSumP=0.448852;SB=-1585.31;SecondBestBaseQ=30;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.234C>T;refseq.codonCoord_3=78;refseq.end_1=30470232;refseq.end_2=30470232;refseq.end_3=30469662;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=490;refseq.name2_1=RAD51L3;refseq.name2_2=RAD51L3;refseq.name2_3=RAD51L3;refseq.name_1=NM_133629;refseq.name_2=NM_001142571;refseq.name_3=NM_002878;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S78S;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCC;refseq.spliceDist_3=-30;refseq.start_1=30457624;refseq.start_2=30468180;refseq.start_3=30469662;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCT;set=Intersection GT 1/0 chr17 30472931 . T C 229.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=257;Dels=0.00;HRun=1;HaplotypeScore=8.84;MQ=98.87;MQ0=0;OQ=9850.54;QD=38.33;RankSumP=1.00000;SB=-4202.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.106T>C;refseq.codonCoord=36;refseq.end=30472931;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_017559;refseq.name2=FNDC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-104;refseq.start=30472931;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr17 30488977 . C T 168.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=11812.85;QD=43.91;RankSumP=1.00000;SB=-5906.66;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.-371G>A;refseq.codingCoordStr_2=c.506G>A;refseq.codonCoord_2=169;refseq.end_1=30488977;refseq.end_2=30488977;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=534;refseq.name2_1=NLE1;refseq.name2_2=NLE1;refseq.name_1=NM_001014445;refseq.name_2=NM_018096;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R169K;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=30488977;refseq.start_2=30488977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr17 30491086 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.-602A>C;refseq.codingCoordStr_2=c.275A>C;refseq.codonCoord_2=92;refseq.end_1=30491086;refseq.end_2=30491086;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=438;refseq.mrnaCoord_2=303;refseq.name2_1=NLE1;refseq.name2_2=NLE1;refseq.name_1=NM_001014445;refseq.name_2=NM_018096;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y92S;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=30491086;refseq.start_2=30491086;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chr17 30493392 . G C 57.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=92.96;MQ0=0;OQ=57.85;QD=14.46;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.-996C>G;refseq.codingCoordStr_2=c.16C>G;refseq.codonCoord_2=6;refseq.end_1=30493392;refseq.end_2=30493392;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=44;refseq.mrnaCoord_2=44;refseq.name2_1=NLE1;refseq.name2_2=NLE1;refseq.name_1=NM_001014445;refseq.name_2=NM_018096;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P6A;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=44;refseq.spliceDist_2=-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=30493392;refseq.start_2=30493392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=filterInsoap-gatk GT 1/1 chr17 30502300 . A G 171.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=86.88;MQ0=0;OQ=2365.99;QD=34.79;RankSumP=1.00000;SB=-1096.45;SecondBestBaseQ=0;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.end_1=30504014;refseq.end_2=30504014;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=UNC45B;refseq.name2_2=UNC45B;refseq.name_1=NM_001033576;refseq.name_2=NM_173167;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.start_1=30501366;refseq.start_2=30501366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr17 30502329 rs12165042 T C 189.50 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=82.95;MQ0=0;OQ=1458.46;QD=18.70;SB=-677.93;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.end_1=30504014;refseq.end_2=30504014;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=UNC45B;refseq.name2_2=UNC45B;refseq.name_1=NM_001033576;refseq.name_2=NM_173167;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.start_1=30501366;refseq.start_2=30501366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=gatk GT:AD:DP:GL:GQ 0/1:32,44:72:-170.81,-21.68,-129.26:99 chr17 30502342 . A T 206.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=82.39;MQ0=0;OQ=2346.57;QD=35.02;RankSumP=0.692308;SB=-1159.34;SecondBestBaseQ=33;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.end_1=30504014;refseq.end_2=30504014;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=UNC45B;refseq.name2_2=UNC45B;refseq.name_1=NM_001033576;refseq.name_2=NM_173167;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.start_1=30501366;refseq.start_2=30501366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr17 30610143 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.321T>G;refseq.codonCoord=107;refseq.end=30610143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_144975;refseq.name2=SLFN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=361;refseq.start=30610143;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 30704953 . T C 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=82.37;MQ0=12;OQ=1956.30;QD=31.05;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.1437A>G;refseq.codingCoordStr_2=c.1437A>G;refseq.codingCoordStr_3=c.1437A>G;refseq.codingCoordStr_4=c.1437A>G;refseq.codingCoordStr_5=c.1437A>G;refseq.codonCoord_1=479;refseq.codonCoord_2=479;refseq.codonCoord_3=479;refseq.codonCoord_4=479;refseq.codonCoord_5=479;refseq.end_1=30704953;refseq.end_2=30704953;refseq.end_3=30704953;refseq.end_4=30704953;refseq.end_5=30704953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1961;refseq.mrnaCoord_2=1879;refseq.mrnaCoord_3=1801;refseq.mrnaCoord_4=1791;refseq.mrnaCoord_5=1684;refseq.name2_1=SLFN11;refseq.name2_2=SLFN11;refseq.name2_3=SLFN11;refseq.name2_4=SLFN11;refseq.name2_5=SLFN11;refseq.name_1=NM_001104587;refseq.name_2=NM_001104588;refseq.name_3=NM_001104589;refseq.name_4=NM_001104590;refseq.name_5=NM_152270;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.Q479Q;refseq.proteinCoordStr_2=p.Q479Q;refseq.proteinCoordStr_3=p.Q479Q;refseq.proteinCoordStr_4=p.Q479Q;refseq.proteinCoordStr_5=p.Q479Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_1=239;refseq.spliceDist_2=239;refseq.spliceDist_3=239;refseq.spliceDist_4=239;refseq.spliceDist_5=239;refseq.start_1=30704953;refseq.start_2=30704953;refseq.start_3=30704953;refseq.start_4=30704953;refseq.start_5=30704953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;set=Intersection GT 1/1 chr17 30714039 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=691;Dels=0.00;HRun=1;HaplotypeScore=23.06;MQ=98.66;MQ0=0;OQ=28400.96;QD=41.10;RankSumP=1.00000;SB=-13633.44;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.901A>G;refseq.codingCoordStr_2=c.901A>G;refseq.codingCoordStr_3=c.901A>G;refseq.codingCoordStr_4=c.901A>G;refseq.codingCoordStr_5=c.901A>G;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.codonCoord_3=301;refseq.codonCoord_4=301;refseq.codonCoord_5=301;refseq.end_1=30714039;refseq.end_2=30714039;refseq.end_3=30714039;refseq.end_4=30714039;refseq.end_5=30714039;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1425;refseq.mrnaCoord_2=1343;refseq.mrnaCoord_3=1265;refseq.mrnaCoord_4=1255;refseq.mrnaCoord_5=1148;refseq.name2_1=SLFN11;refseq.name2_2=SLFN11;refseq.name2_3=SLFN11;refseq.name2_4=SLFN11;refseq.name2_5=SLFN11;refseq.name_1=NM_001104587;refseq.name_2=NM_001104588;refseq.name_3=NM_001104589;refseq.name_4=NM_001104590;refseq.name_5=NM_152270;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N301D;refseq.proteinCoordStr_2=p.N301D;refseq.proteinCoordStr_3=p.N301D;refseq.proteinCoordStr_4=p.N301D;refseq.proteinCoordStr_5=p.N301D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.spliceDist_1=-169;refseq.spliceDist_2=-169;refseq.spliceDist_3=-169;refseq.spliceDist_4=-169;refseq.spliceDist_5=-169;refseq.start_1=30714039;refseq.start_2=30714039;refseq.start_3=30714039;refseq.start_4=30714039;refseq.start_5=30714039;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;set=Intersection GT 1/1 chr17 30714732 . G T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=536;Dels=0.00;HRun=0;HaplotypeScore=21.96;MQ=98.73;MQ0=0;OQ=19927.82;QD=37.18;RankSumP=1.00000;SB=-7716.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.208C>A;refseq.codingCoordStr_2=c.208C>A;refseq.codingCoordStr_3=c.208C>A;refseq.codingCoordStr_4=c.208C>A;refseq.codingCoordStr_5=c.208C>A;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.codonCoord_3=70;refseq.codonCoord_4=70;refseq.codonCoord_5=70;refseq.end_1=30714732;refseq.end_2=30714732;refseq.end_3=30714732;refseq.end_4=30714732;refseq.end_5=30714732;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=732;refseq.mrnaCoord_2=650;refseq.mrnaCoord_3=572;refseq.mrnaCoord_4=562;refseq.mrnaCoord_5=455;refseq.name2_1=SLFN11;refseq.name2_2=SLFN11;refseq.name2_3=SLFN11;refseq.name2_4=SLFN11;refseq.name2_5=SLFN11;refseq.name_1=NM_001104587;refseq.name_2=NM_001104588;refseq.name_3=NM_001104589;refseq.name_4=NM_001104590;refseq.name_5=NM_152270;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P70T;refseq.proteinCoordStr_2=p.P70T;refseq.proteinCoordStr_3=p.P70T;refseq.proteinCoordStr_4=p.P70T;refseq.proteinCoordStr_5=p.P70T;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.referenceCodon_5=CCC;refseq.spliceDist_1=227;refseq.spliceDist_2=227;refseq.spliceDist_3=227;refseq.spliceDist_4=227;refseq.spliceDist_5=227;refseq.start_1=30714732;refseq.start_2=30714732;refseq.start_3=30714732;refseq.start_4=30714732;refseq.start_5=30714732;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=Intersection GT 1/1 chr17 30774032 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=432;Dels=0.00;HRun=1;HaplotypeScore=14.20;MQ=98.85;MQ0=0;OQ=8828.46;QD=20.44;RankSumP=0.292250;SB=-3705.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.129T>G;refseq.codonCoord=43;refseq.end=30774032;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=506;refseq.name=NM_018042;refseq.name2=SLFN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S43R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=169;refseq.start=30774032;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr17 30792312 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=1;HaplotypeScore=9.17;MQ=98.47;MQ0=0;OQ=10175.64;QD=21.65;RankSumP=0.161920;SB=-3551.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2109C>T;refseq.codonCoord=703;refseq.end=30792312;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2385;refseq.name=NM_144682;refseq.name2=SLFN13;refseq.positionType=CDS;refseq.proteinCoordStr=p.D703D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=187;refseq.start=30792312;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr17 30792467 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=3;HaplotypeScore=3.15;MQ=65.21;MQ0=39;OQ=1177.69;QD=7.41;RankSumP=0.401848;SB=-122.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1954G>A;refseq.codonCoord=652;refseq.end=30792467;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2230;refseq.name=NM_144682;refseq.name2=SLFN13;refseq.positionType=CDS;refseq.proteinCoordStr=p.E652K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=32;refseq.start=30792467;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr17 30792743 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.681818;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1874A>C;refseq.codonCoord=625;refseq.end=30792743;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2150;refseq.name=NM_144682;refseq.name2=SLFN13;refseq.positionType=CDS;refseq.proteinCoordStr=p.H625P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-49;refseq.start=30792743;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 30796802 . T C 279.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=98.53;MQ0=0;OQ=2625.39;QD=18.23;RankSumP=0.361069;SB=-688.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.11A>G;refseq.codonCoord=4;refseq.end=30796802;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_144682;refseq.name2=SLFN13;refseq.positionType=CDS;refseq.proteinCoordStr=p.N4S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=24;refseq.start=30796802;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 31022915 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=91.30;MQ0=0;OQ=1372.45;QD=24.95;RankSumP=0.646883;SB=-154.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2061G>C;refseq.codingCoordStr_2=c.2019G>C;refseq.codonCoord_1=687;refseq.codonCoord_2=673;refseq.end_1=31022915;refseq.end_2=31022915;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2250;refseq.mrnaCoord_2=2208;refseq.name2_1=AP2B1;refseq.name2_2=AP2B1;refseq.name_1=NM_001030006;refseq.name_2=NM_001282;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V687V;refseq.proteinCoordStr_2=p.V673V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=31022915;refseq.start_2=31022915;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr17 31096144 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=15.35;MQ=97.84;MQ0=0;OQ=2556.80;QD=14.36;RankSumP=0.276341;SB=-876.81;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2485C>T;refseq.codonCoord=829;refseq.end=31096144;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2513;refseq.name=NM_139285;refseq.name2=GAS2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R829W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-495;refseq.start=31096144;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr17 31288940 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.233A>C;refseq.codonCoord=78;refseq.end=31288940;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_020426;refseq.name2=LYZL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N78T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-66;refseq.start=31288940;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 31335514 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_3=c.215A>C;refseq.codingCoordStr_4=c.167A>C;refseq.codonCoord_3=72;refseq.codonCoord_4=56;refseq.end_1=31335514;refseq.end_2=31335514;refseq.end_3=31335514;refseq.end_4=31335514;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1227;refseq.mrnaCoord_2=1179;refseq.mrnaCoord_3=294;refseq.mrnaCoord_4=246;refseq.name2_1=CCL14-CCL15;refseq.name2_2=CCL14-CCL15;refseq.name2_3=CCL14;refseq.name2_4=CCL14;refseq.name_1=NR_027921;refseq.name_2=NR_027922;refseq.name_3=NM_032962;refseq.name_4=NM_032963;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.N72T;refseq.proteinCoordStr_4=p.N56T;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=31335514;refseq.start_2=31335514;refseq.start_3=31335514;refseq.start_4=31335514;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chr17 31352574 . A G 185.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=12.34;MQ=95.73;MQ0=0;OQ=7188.62;QD=38.65;RankSumP=1.00000;SB=-1950.07;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.71T>C;refseq.codonCoord_3=24;refseq.end_1=31352574;refseq.end_2=31352574;refseq.end_3=31352574;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=640;refseq.mrnaCoord_2=640;refseq.mrnaCoord_3=640;refseq.name2_1=CCL14-CCL15;refseq.name2_2=CCL14-CCL15;refseq.name2_3=CCL15;refseq.name_1=NR_027921;refseq.name_2=NR_027922;refseq.name_3=NM_032965;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.I24T;refseq.referenceAA_3=Ile;refseq.referenceCodon_3=ATA;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceDist_3=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.spliceInfo_3=splice-donor_-6;refseq.start_1=31352574;refseq.start_2=31352574;refseq.start_3=31352574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=Intersection GT 1/1 chr17 31364397 . C T 408.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3760.28;QD=43.22;RankSumP=1.00000;SB=-1880.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.367G>A;refseq.codingCoordStr_2=c.316G>A;refseq.codonCoord_1=123;refseq.codonCoord_2=106;refseq.end_1=31364397;refseq.end_2=31364397;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=438;refseq.mrnaCoord_2=387;refseq.name2_1=CCL23;refseq.name2_2=CCL23;refseq.name_1=NM_005064;refseq.name_2=NM_145898;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V123M;refseq.proteinCoordStr_2=p.V106M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=31364397;refseq.start_2=31364397;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr17 31440650 . G A 323.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=72.61;MQ0=39;OQ=12606.22;QD=36.97;RankSumP=1.00000;SB=-3645.06;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.180C>T;refseq.codonCoord=60;refseq.end=31440650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_002983;refseq.name2=CCL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P60P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=31440650;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 31456074 . T C 109.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=84.74;MQ0=6;OQ=3534.07;QD=36.43;RankSumP=1.00000;SB=-81.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.117T>C;refseq.codonCoord=39;refseq.end=31456074;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_002984;refseq.name2=CCL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T39T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=41;refseq.start=31456074;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 31456776 . A G 253.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=90.53;MQ0=10;OQ=12660.36;QD=40.06;RankSumP=1.00000;SB=-6178.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.237A>G;refseq.codonCoord=79;refseq.end=31456776;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_002984;refseq.name2=CCL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E79E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=46;refseq.start=31456776;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 31456777 . T A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=2;HaplotypeScore=1.92;MQ=90.29;MQ0=11;OQ=11756.70;QD=37.44;RankSumP=1.00000;SB=-5658.42;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.238T>A;refseq.codonCoord=80;refseq.end=31456777;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=317;refseq.name=NM_002984;refseq.name2=CCL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S80T;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=47;refseq.start=31456777;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 31523353 rs11550755 C T -0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=1750;Dels=0.00;HRun=0;HaplotypeScore=216.51;MQ=0.90;MQ0=1747;OQ=84.78;QD=0.05;SB=-10.00;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.471G>A;refseq.codonCoord=157;refseq.end=31523353;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_001001417;refseq.name2=TBC1D3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M157I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-27;refseq.start=31523353;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1562,181:3:-11.97,-0.90,-0.00:9.03 chr17 31523360 . T C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.444444;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.464A>G;refseq.codonCoord=155;refseq.end=31523360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=614;refseq.name=NM_001001417;refseq.name2=TBC1D3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K155R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-34;refseq.start=31523360;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chr17 31605977 rs513363 A G 42.28 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=3.86;MQ=49.62;MQ0=5;QD=4.23;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1186T>C;refseq.codingCoordStr_2=c.1186T>C;refseq.codonCoord_1=396;refseq.codonCoord_2=396;refseq.end_1=31605977;refseq.end_2=31605977;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1331;refseq.mrnaCoord_2=1343;refseq.name2_1=TBC1D3C;refseq.name2_2=TBC1D3F;refseq.name_1=NM_001001418;refseq.name_2=NM_032258;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W396R;refseq.proteinCoordStr_2=p.W396R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=31605977;refseq.start_2=31605977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:5,2:2:-7.64,-0.60,-0.00:6.02 chr17 31967439 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=684;Dels=0.00;HRun=0;HaplotypeScore=22.65;MQ=98.82;MQ0=0;OQ=12834.76;QD=18.76;RankSumP=0.189074;SB=-4312.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.376A>G;refseq.codonCoord=126;refseq.end=31967439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_178517;refseq.name2=PIGW;refseq.positionType=CDS;refseq.proteinCoordStr=p.N126D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=384;refseq.start=31967439;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr17 32016708 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.89;MQ0=0;OQ=1967.39;QD=17.26;RankSumP=0.226723;SB=-780.00;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1608G>A;refseq.codonCoord=536;refseq.end=32016708;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1857;refseq.name=NM_024835;refseq.name2=GGNBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K536K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-34;refseq.start=32016708;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr17 32032711 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.90;MQ0=0;OQ=501.33;QD=16.17;RankSumP=0.176777;SB=-130.68;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.359G>C;refseq.codonCoord=120;refseq.end=32032711;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_024864;refseq.name2=MRM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C120S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-184;refseq.start=32032711;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 32384434 . G A 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=148;Dels=0.00;HRun=2;HaplotypeScore=11.62;MQ=97.79;MQ0=0;OQ=120.37;QD=0.81;RankSumP=0.00000;SB=137.49;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.419G>A;refseq.codonCoord=140;refseq.end=32384434;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_012138;refseq.name2=AATF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R140K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=136;refseq.start=32384434;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr17 32420754 . T C 147.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.22;MQ0=0;OQ=2279.88;QD=34.03;RankSumP=1.00000;SB=-713.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1245T>C;refseq.codonCoord=415;refseq.end=32420754;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_012138;refseq.name2=AATF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S415S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-70;refseq.start=32420754;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 32552475 . T C 196.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.89;MQ0=0;OQ=2455.95;QD=31.49;RankSumP=1.00000;SB=-1137.42;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.6189A>G;refseq.codingCoordStr_2=c.6078A>G;refseq.codingCoordStr_3=c.5904A>G;refseq.codingCoordStr_4=c.5844A>G;refseq.codingCoordStr_5=c.6078A>G;refseq.codonCoord_1=2063;refseq.codonCoord_2=2026;refseq.codonCoord_3=1968;refseq.codonCoord_4=1948;refseq.codonCoord_5=2026;refseq.end_1=32552475;refseq.end_2=32552475;refseq.end_3=32552475;refseq.end_4=32552475;refseq.end_5=32552475;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=6702;refseq.mrnaCoord_2=6269;refseq.mrnaCoord_3=6339;refseq.mrnaCoord_4=6450;refseq.mrnaCoord_5=7376;refseq.name2_1=ACACA;refseq.name2_2=ACACA;refseq.name2_3=ACACA;refseq.name2_4=ACACA;refseq.name2_5=ACACA;refseq.name_1=NM_198834;refseq.name_2=NM_198836;refseq.name_3=NM_198837;refseq.name_4=NM_198838;refseq.name_5=NM_198839;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T2063T;refseq.proteinCoordStr_2=p.T2026T;refseq.proteinCoordStr_3=p.T1968T;refseq.proteinCoordStr_4=p.T1948T;refseq.proteinCoordStr_5=p.T2026T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.spliceDist_5=51;refseq.start_1=32552475;refseq.start_2=32552475;refseq.start_3=32552475;refseq.start_4=32552475;refseq.start_5=32552475;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/1 chr17 32622287 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.4459C>A;refseq.codingCoordStr_2=c.4348C>A;refseq.codingCoordStr_3=c.4174C>A;refseq.codingCoordStr_4=c.4114C>A;refseq.codingCoordStr_5=c.4348C>A;refseq.codonCoord_1=1487;refseq.codonCoord_2=1450;refseq.codonCoord_3=1392;refseq.codonCoord_4=1372;refseq.codonCoord_5=1450;refseq.end_1=32622287;refseq.end_2=32622287;refseq.end_3=32622287;refseq.end_4=32622287;refseq.end_5=32622287;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=4972;refseq.mrnaCoord_2=4539;refseq.mrnaCoord_3=4609;refseq.mrnaCoord_4=4720;refseq.mrnaCoord_5=5646;refseq.name2_1=ACACA;refseq.name2_2=ACACA;refseq.name2_3=ACACA;refseq.name2_4=ACACA;refseq.name2_5=ACACA;refseq.name_1=NM_198834;refseq.name_2=NM_198836;refseq.name_3=NM_198837;refseq.name_4=NM_198838;refseq.name_5=NM_198839;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L1487I;refseq.proteinCoordStr_2=p.L1450I;refseq.proteinCoordStr_3=p.L1392I;refseq.proteinCoordStr_4=p.L1372I;refseq.proteinCoordStr_5=p.L1450I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.spliceDist_5=43;refseq.start_1=32622287;refseq.start_2=32622287;refseq.start_3=32622287;refseq.start_4=32622287;refseq.start_5=32622287;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;refseq.variantCodon_5=ATC;set=FilteredInAll GT 0/1 chr17 32705282 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.923A>G;refseq.codingCoordStr_2=c.812A>G;refseq.codingCoordStr_3=c.638A>G;refseq.codingCoordStr_4=c.578A>G;refseq.codingCoordStr_5=c.812A>G;refseq.codonCoord_1=308;refseq.codonCoord_2=271;refseq.codonCoord_3=213;refseq.codonCoord_4=193;refseq.codonCoord_5=271;refseq.end_1=32705282;refseq.end_2=32705282;refseq.end_3=32705282;refseq.end_4=32705282;refseq.end_5=32705282;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1436;refseq.mrnaCoord_2=1003;refseq.mrnaCoord_3=1073;refseq.mrnaCoord_4=1184;refseq.mrnaCoord_5=2110;refseq.name2_1=ACACA;refseq.name2_2=ACACA;refseq.name2_3=ACACA;refseq.name2_4=ACACA;refseq.name2_5=ACACA;refseq.name_1=NM_198834;refseq.name_2=NM_198836;refseq.name_3=NM_198837;refseq.name_4=NM_198838;refseq.name_5=NM_198839;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.E308G;refseq.proteinCoordStr_2=p.E271G;refseq.proteinCoordStr_3=p.E213G;refseq.proteinCoordStr_4=p.E193G;refseq.proteinCoordStr_5=p.E271G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.spliceDist_5=22;refseq.start_1=32705282;refseq.start_2=32705282;refseq.start_3=32705282;refseq.start_4=32705282;refseq.start_5=32705282;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;set=FilteredInAll GT 1/0 chr17 32770917 . G A 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=94.84;MQ0=0;OQ=5955.20;QD=43.79;RankSumP=1.00000;SB=-2055.12;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.45C>T;refseq.codingCoordStr_2=c.-67C>T;refseq.codingCoordStr_3=c.-67C>T;refseq.codonCoord_1=15;refseq.end_1=32770917;refseq.end_2=32770917;refseq.end_3=32770917;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=125;refseq.mrnaCoord_3=1232;refseq.name2_1=ACACA;refseq.name2_2=ACACA;refseq.name2_3=ACACA;refseq.name_1=NM_198834;refseq.name_2=NM_198836;refseq.name_3=NM_198839;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.F15F;refseq.referenceAA_1=Phe;refseq.referenceCodon_1=TTC;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=32770917;refseq.start_2=32770917;refseq.start_3=32770917;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantCodon_1=TTT;set=Intersection GT 1/1 chr17 32845581 . C T 235.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=4.68;MQ=98.76;MQ0=0;OQ=18646.71;QD=42.28;RankSumP=1.00000;SB=-6003.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.16C>T;refseq.codingCoordStr_2=c.16C>T;refseq.codingCoordStr_3=c.16C>T;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.codonCoord_3=6;refseq.end_1=32845581;refseq.end_2=32845581;refseq.end_3=32845581;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=177;refseq.mrnaCoord_2=385;refseq.mrnaCoord_3=385;refseq.name2_1=TADA2A;refseq.name2_2=TADA2A;refseq.name2_3=TADA2A;refseq.name_1=NM_001166105;refseq.name_2=NM_001488;refseq.name_3=NM_133439;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P6S;refseq.proteinCoordStr_2=p.P6S;refseq.proteinCoordStr_3=p.P6S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=32845581;refseq.start_2=32845581;refseq.start_3=32845581;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/1 chr17 32988215 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.codingCoordStr_1=c.1489A>C;refseq.codingCoordStr_2=c.1486A>C;refseq.codingCoordStr_3=c.1489A>C;refseq.codingCoordStr_4=c.1240A>C;refseq.codingCoordStr_5=c.1723A>C;refseq.codingCoordStr_6=c.1489A>C;refseq.codingCoordStr_7=c.1489A>C;refseq.codonCoord_1=497;refseq.codonCoord_2=496;refseq.codonCoord_3=497;refseq.codonCoord_4=414;refseq.codonCoord_5=575;refseq.codonCoord_6=497;refseq.codonCoord_7=497;refseq.end_1=32988215;refseq.end_2=32988215;refseq.end_3=32988215;refseq.end_4=32988215;refseq.end_5=32988215;refseq.end_6=32988215;refseq.end_7=32988215;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1572;refseq.mrnaCoord_2=1569;refseq.mrnaCoord_3=1572;refseq.mrnaCoord_4=1323;refseq.mrnaCoord_5=1806;refseq.mrnaCoord_6=1572;refseq.mrnaCoord_7=1572;refseq.name2_1=SYNRG;refseq.name2_2=SYNRG;refseq.name2_3=SYNRG;refseq.name2_4=SYNRG;refseq.name2_5=SYNRG;refseq.name2_6=SYNRG;refseq.name2_7=SYNRG;refseq.name_1=NM_001163544;refseq.name_2=NM_001163545;refseq.name_3=NM_001163546;refseq.name_4=NM_001163547;refseq.name_5=NM_007247;refseq.name_6=NM_080550;refseq.name_7=NM_198882;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T497P;refseq.proteinCoordStr_2=p.T496P;refseq.proteinCoordStr_3=p.T497P;refseq.proteinCoordStr_4=p.T414P;refseq.proteinCoordStr_5=p.T575P;refseq.proteinCoordStr_6=p.T497P;refseq.proteinCoordStr_7=p.T497P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.referenceCodon_6=ACA;refseq.referenceCodon_7=ACA;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.spliceDist_5=60;refseq.spliceDist_6=60;refseq.spliceDist_7=60;refseq.start_1=32988215;refseq.start_2=32988215;refseq.start_3=32988215;refseq.start_4=32988215;refseq.start_5=32988215;refseq.start_6=32988215;refseq.start_7=32988215;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;refseq.variantCodon_6=CCA;refseq.variantCodon_7=CCA;set=FilteredInAll GT 1/0 chr17 33058523 . T C 327.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.65;MQ0=0;OQ=9215.96;QD=39.05;RankSumP=1.00000;SB=-3765.08;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1207A>G;refseq.codingCoordStr_2=c.883A>G;refseq.codonCoord_1=403;refseq.codonCoord_2=295;refseq.end_1=33058523;refseq.end_2=33058523;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=1360;refseq.name2_1=DDX52;refseq.name2_2=DDX52;refseq.name_1=NM_007010;refseq.name_2=NM_152300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M403V;refseq.proteinCoordStr_2=p.M295V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=33058523;refseq.start_2=33058523;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr17 33062785 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=13.01;MQ=98.43;MQ0=0;OQ=13215.37;QD=42.63;RankSumP=1.00000;SB=-4727.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.792G>A;refseq.codingCoordStr_2=c.468G>A;refseq.codonCoord_1=264;refseq.codonCoord_2=156;refseq.end_1=33062785;refseq.end_2=33062785;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=830;refseq.mrnaCoord_2=945;refseq.name2_1=DDX52;refseq.name2_2=DDX52;refseq.name_1=NM_007010;refseq.name_2=NM_152300;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R264R;refseq.proteinCoordStr_2=p.R156R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=33062785;refseq.start_2=33062785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr17 33359950 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.385413;SecondBestBaseQ=33;set=soap GT 0/1 chr17 33361565 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.0347779;SecondBestBaseQ=27;set=soap GT 0/1 chr17 33363070 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00427780;SecondBestBaseQ=31;set=FilteredInAll GT 1/0 chr17 33363096 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.372159;SecondBestBaseQ=33;set=soap GT 0/1 chr17 33364420 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0302165;SecondBestBaseQ=32;set=soap GT 0/1 chr17 33365014 . C T 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.367627;SecondBestBaseQ=29;set=soap GT 0/1 chr17 33365020 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0588325;SecondBestBaseQ=29;set=soap GT 0/1 chr17 33365083 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.476365;SecondBestBaseQ=33;set=soap GT 0/1 chr17 33365830 . G A 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=0;RankSumP=0.456710;SecondBestBaseQ=18;set=soap GT 1/0 chr17 33365861 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=0;RankSumP=0.331996;SecondBestBaseQ=14;set=soap GT 1/0 chr17 33365878 . C T 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.0102297;SecondBestBaseQ=29;set=soap GT 0/1 chr17 33367283 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.107229;SecondBestBaseQ=31;set=soap GT 1/0 chr17 33367313 . G A 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.186167;SecondBestBaseQ=29;set=FilteredInAll GT 1/0 chr17 33367328 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.239518;SecondBestBaseQ=27;set=soap GT 1/0 chr17 33367344 . A G 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.429799;SecondBestBaseQ=28;set=soap GT 0/1 chr17 33367361 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.452149;SecondBestBaseQ=28;set=soap GT 0/1 chr17 33367413 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;set=soap GT 1/1 chr17 33367426 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0421197;SecondBestBaseQ=32;set=soap GT 1/0 chr17 33368456 . G A 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.153984;SecondBestBaseQ=33;set=soap GT 1/0 chr17 33368495 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.125657;SecondBestBaseQ=29;set=soap GT 1/0 chr17 33368714 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.442615;SecondBestBaseQ=32;set=soap GT 0/1 chr17 33368728 . A G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=7.15786e-05;SecondBestBaseQ=34;set=FilteredInAll GT 0/1 chr17 33368731 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00513668;SecondBestBaseQ=33;set=FilteredInAll GT 1/0 chr17 33368911 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.372140;SecondBestBaseQ=29;set=soap GT 0/1 chr17 33368912 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.149462;SecondBestBaseQ=30;set=soap GT 1/0 chr17 33598225 . C T 8 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=1563;Dels=0.00;HRun=0;HaplotypeScore=61.64;MQ=4.01;MQ0=1449;OQ=109.72;QD=0.07;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.294G>A;refseq.codonCoord=98;refseq.end=33598225;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_032258;refseq.name2=TBC1D3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.A98A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=15;refseq.start=33598225;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/1 chr17 33706711 . G T 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=4;HaplotypeScore=9.92;MQ=62.08;MQ0=15;OQ=2723.03;QD=28.97;RankSumP=1.00000;SB=-1295.11;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.43G>T;refseq.codonCoord=15;refseq.end=33706711;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_032351;refseq.name2=MRPL45;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-24;refseq.start=33706711;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr17 33706727 . C T 57.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=9.75;MQ=67.10;MQ0=15;OQ=2831.39;QD=31.11;RankSumP=1.00000;SB=-1304.17;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.59C>T;refseq.codonCoord=20;refseq.end=33706727;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_032351;refseq.name2=MRPL45;refseq.positionType=CDS;refseq.proteinCoordStr=p.S20F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=33706727;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr17 33707994 . C T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.547619;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.127C>T;refseq.codonCoord=43;refseq.end=33707994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_032351;refseq.name2=MRPL45;refseq.positionType=CDS;refseq.proteinCoordStr=p.P43S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=61;refseq.start=33707994;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 0/1 chr17 33731977 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.62;MQ0=0;OQ=2348.17;QD=11.34;RankSumP=0.262882;SB=-1068.19;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.893G>T;refseq.codonCoord=298;refseq.end=33731977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_032351;refseq.name2=MRPL45;refseq.positionType=CDS;refseq.proteinCoordStr=p.G298V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=59;refseq.start=33731977;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr17 33739037 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3941T>G;refseq.codonCoord=1314;refseq.end=33739037;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3962;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1314G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1904;refseq.start=33739037;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 33739279 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=304;Dels=0.00;HRun=2;HaplotypeScore=3.84;MQ=98.42;MQ0=0;OQ=6359.00;QD=20.92;RankSumP=0.0451368;SB=-2650.94;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3699C>G;refseq.codonCoord=1233;refseq.end=33739279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3720;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1233L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=1662;refseq.start=33739279;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr17 33739530 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=700;Dels=0.00;HRun=0;HaplotypeScore=24.36;MQ=98.68;MQ0=0;OQ=10594.39;QD=15.13;RankSumP=0.323118;SB=-3052.57;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3448A>G;refseq.codonCoord=1150;refseq.end=33739530;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3469;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1150E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1411;refseq.start=33739530;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr17 33740328 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.40;MQ0=0;OQ=504.47;QD=14.84;RankSumP=0.382889;SB=-149.17;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2650C>T;refseq.codonCoord=884;refseq.end=33740328;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2671;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.R884W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=613;refseq.start=33740328;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr17 33740486 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=1;RankSumP=0.628458;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2492G>A;refseq.codonCoord=831;refseq.end=33740486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2513;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.R831K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=455;refseq.start=33740486;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr17 33740490 . G T 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=1;RankSumP=0.458735;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2488C>A;refseq.codonCoord=830;refseq.end=33740490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2509;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.P830T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=451;refseq.start=33740490;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr17 33745041 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1365T>G;refseq.codonCoord=455;refseq.end=33745041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1386;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.G455G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-42;refseq.start=33745041;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 33745046 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1360C>G;refseq.codonCoord=454;refseq.end=33745046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1381;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.L454V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-47;refseq.start=33745046;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr17 33747124 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=91;Dels=0.00;HRun=4;HaplotypeScore=3.35;MQ=98.23;MQ0=0;OQ=1042.28;QD=11.45;RankSumP=0.460344;SB=-223.61;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.909T>C;refseq.codonCoord=303;refseq.end=33747124;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_001004334;refseq.name2=GPR179;refseq.positionType=CDS;refseq.proteinCoordStr=p.V303V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=33747124;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 33761911 . T C 33.78 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=4;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;QD=8.45;RankSumP=0.250000;SB=-39.94;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.258T>C;refseq.codonCoord=86;refseq.end=33761911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_014598;refseq.name2=SOCS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P86P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=381;refseq.start=33761911;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 34115509 . T C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=98.14;MQ0=0;OQ=2737.62;QD=32.59;RankSumP=1.00000;SB=-332.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.98T>C;refseq.codonCoord=33;refseq.end=34115509;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=111;refseq.name=NM_005937;refseq.name2=MLLT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-12;refseq.start=34115509;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 34148365 . G A 76.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.69;MQ0=0;OQ=1423.88;QD=40.68;RankSumP=1.00000;SB=-537.03;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.435C>T;refseq.codonCoord=145;refseq.end=34148365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_007144;refseq.name2=PCGF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D145D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=34148365;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 34180257 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=689;Dels=0.00;HRun=1;HaplotypeScore=25.10;MQ=98.83;MQ0=0;OQ=12968.62;QD=18.82;RankSumP=3.21553e-06;SB=-5406.66;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1128A>C;refseq.codonCoord=376;refseq.end=34180257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_003559;refseq.name2=PIP4K2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T376T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-43;refseq.start=34180257;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr17 34180293 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=534;Dels=0.00;HRun=3;HaplotypeScore=20.28;MQ=98.73;MQ0=0;OQ=10222.84;QD=19.14;RankSumP=0.0319177;SB=-2852.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1092C>T;refseq.codonCoord=364;refseq.end=34180293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1573;refseq.name=NM_003559;refseq.name2=PIP4K2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F364F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=26;refseq.start=34180293;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr17 34308298 . C T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.357C>T;refseq.codonCoord=119;refseq.end=34308298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_006148;refseq.name2=LASP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N119N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=34308298;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 0/1 chr17 34324184 . A G 104.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=8.88;MQ=97.58;MQ0=0;OQ=2086.93;QD=25.14;RankSumP=1.00000;SB=-647.59;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.438A>G;refseq.codonCoord=146;refseq.end=34324184;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_006148;refseq.name2=LASP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S146S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-71;refseq.start=34324184;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr17 34352615 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1025G>A;refseq.codonCoord=342;refseq.end=34352615;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_001008777;refseq.name2=FBXO47;refseq.positionType=CDS;refseq.proteinCoordStr=p.S342N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-59;refseq.start=34352615;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 0/1 chr17 34354906 . T C 284.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.97;MQ0=0;OQ=11445.52;QD=38.28;RankSumP=1.00000;SB=-4725.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.626A>G;refseq.codonCoord=209;refseq.end=34354906;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_001008777;refseq.name2=FBXO47;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q209R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=34354906;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr17 34497453 . A G 177.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=3.89;MQ=98.77;MQ0=0;OQ=1329.00;QD=15.82;RankSumP=0.470906;SB=-663.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.840T>C;refseq.codonCoord=280;refseq.end=34497453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_020405;refseq.name2=PLXDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y280Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=29;refseq.start=34497453;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr17 34585414 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1355A>C;refseq.codonCoord=452;refseq.end=34585414;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1508;refseq.name=NM_000723;refseq.name2=CACNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D452A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=23;refseq.start=34585414;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr17 34817659 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=1.02868e-06;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4341T>C;refseq.codonCoord=1447;refseq.end=34817659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4553;refseq.name=NM_004774;refseq.name2=MED1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1447S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=2842;refseq.start=34817659;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr17 34921383 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2742A>C;refseq.codingCoordStr_2=c.2742A>C;refseq.codonCoord_1=914;refseq.codonCoord_2=914;refseq.end_1=34921383;refseq.end_2=34921383;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3328;refseq.mrnaCoord_2=3328;refseq.name2_1=CDK12;refseq.name2_2=CDK12;refseq.name_1=NM_015083;refseq.name_2=NM_016507;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T914T;refseq.proteinCoordStr_2=p.T914T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=34921383;refseq.start_2=34921383;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr17 35067606 . G A 339.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=98.25;MQ0=0;OQ=5015.39;QD=20.98;RankSumP=0.367578;SB=-2039.96;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.350G>A;refseq.codingCoordStr_2=c.350G>A;refseq.codingCoordStr_3=c.350G>A;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.codonCoord_3=117;refseq.end_1=35067606;refseq.end_2=35067606;refseq.end_3=35067606;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=553;refseq.mrnaCoord_2=553;refseq.mrnaCoord_3=553;refseq.name2_1=STARD3;refseq.name2_2=STARD3;refseq.name2_3=STARD3;refseq.name_1=NM_001165937;refseq.name_2=NM_001165938;refseq.name_3=NM_006804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R117Q;refseq.proteinCoordStr_2=p.R117Q;refseq.proteinCoordStr_3=p.R117Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=35067606;refseq.start_2=35067606;refseq.start_3=35067606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/0 chr17 35075837 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.95;MQ0=0;OQ=282.16;QD=8.55;RankSumP=0.512019;SB=-133.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.453A>C;refseq.codonCoord=151;refseq.end=35075837;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_003673;refseq.name2=TCAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=343;refseq.start=35075837;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr17 35080063 . C A 87 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.17;MQ=97.57;MQ0=0;QD=0.23;RankSumP=0.000189191;SB=44.17;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.744C>A;refseq.codonCoord=248;refseq.end=35080063;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_002686;refseq.name2=PNMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y248*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-192;refseq.start=35080063;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr17 35084426 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.465T>C;refseq.codonCoord=155;refseq.end=35084426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_033419;refseq.name2=PGAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-31;refseq.start=35084426;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr17 35116799 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.14T>C;refseq.codingCoordStr_2=c.104T>C;refseq.codonCoord_1=5;refseq.codonCoord_2=35;refseq.end_1=35116799;refseq.end_2=35116799;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=534;refseq.mrnaCoord_2=342;refseq.name2_1=ERBB2;refseq.name2_2=ERBB2;refseq.name_1=NM_001005862;refseq.name_2=NM_004448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L5P;refseq.proteinCoordStr_2=p.L35P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=35116799;refseq.start_2=35116799;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 35137087 . A C 89 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=4.15736e-05;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3083A>C;refseq.codingCoordStr_2=c.3173A>C;refseq.codonCoord_1=1028;refseq.codonCoord_2=1058;refseq.end_1=35137087;refseq.end_2=35137087;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3603;refseq.mrnaCoord_2=3411;refseq.name2_1=ERBB2;refseq.name2_2=ERBB2;refseq.name_1=NM_001005862;refseq.name_2=NM_004448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1028A;refseq.proteinCoordStr_2=p.D1058A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=35137087;refseq.start_2=35137087;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr17 35137563 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=1.15;MQ=98.75;MQ0=0;OQ=652.83;QD=13.32;RankSumP=0.656446;SB=-290.23;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3418C>G;refseq.codingCoordStr_2=c.3508C>G;refseq.codonCoord_1=1140;refseq.codonCoord_2=1170;refseq.end_1=35137563;refseq.end_2=35137563;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3938;refseq.mrnaCoord_2=3746;refseq.name2_1=ERBB2;refseq.name2_2=ERBB2;refseq.name_1=NM_001005862;refseq.name_2=NM_004448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1140A;refseq.proteinCoordStr_2=p.P1170A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=35137563;refseq.start_2=35137563;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr17 35175785 . G A 252.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=11.66;MQ=98.91;MQ0=0;OQ=5443.77;QD=18.64;RankSumP=0.330069;SB=-738.50;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.1314C>T;refseq.codingCoordStr_2=c.1146C>T;refseq.codingCoordStr_3=c.1197C>T;refseq.codingCoordStr_4=c.1197C>T;refseq.codingCoordStr_5=c.1029C>T;refseq.codingCoordStr_6=c.1080C>T;refseq.codonCoord_1=438;refseq.codonCoord_2=382;refseq.codonCoord_3=399;refseq.codonCoord_4=399;refseq.codonCoord_5=343;refseq.codonCoord_6=360;refseq.end_1=35175785;refseq.end_2=35175785;refseq.end_3=35175785;refseq.end_4=35175785;refseq.end_5=35175785;refseq.end_6=35175785;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=1208;refseq.mrnaCoord_3=1259;refseq.mrnaCoord_4=1259;refseq.mrnaCoord_5=1091;refseq.mrnaCoord_6=1142;refseq.name2_1=IKZF3;refseq.name2_2=IKZF3;refseq.name2_3=IKZF3;refseq.name2_4=IKZF3;refseq.name2_5=IKZF3;refseq.name2_6=IKZF3;refseq.name_1=NM_012481;refseq.name_2=NM_183228;refseq.name_3=NM_183229;refseq.name_4=NM_183230;refseq.name_5=NM_183231;refseq.name_6=NM_183232;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.S438S;refseq.proteinCoordStr_2=p.S382S;refseq.proteinCoordStr_3=p.S399S;refseq.proteinCoordStr_4=p.S399S;refseq.proteinCoordStr_5=p.S343S;refseq.proteinCoordStr_6=p.S360S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.spliceDist_1=488;refseq.spliceDist_2=488;refseq.spliceDist_3=488;refseq.spliceDist_4=488;refseq.spliceDist_5=488;refseq.spliceDist_6=488;refseq.start_1=35175785;refseq.start_2=35175785;refseq.start_3=35175785;refseq.start_4=35175785;refseq.start_5=35175785;refseq.start_6=35175785;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;refseq.variantCodon_6=TCT;set=Intersection GT 1/0 chr17 35278152 . C T 107.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.75;MQ=96.81;MQ0=0;OQ=1001.18;QD=19.63;RankSumP=0.615884;SB=-513.48;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.19C>T;refseq.codingCoordStr_2=c.19C>T;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=35278152;refseq.end_2=35278152;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=172;refseq.mrnaCoord_2=172;refseq.name2_1=ZPBP2;refseq.name2_2=ZPBP2;refseq.name_1=NM_198844;refseq.name_2=NM_199321;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L7L;refseq.proteinCoordStr_2=p.L7L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=35278152;refseq.start_2=35278152;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 0/1 chr17 35282160 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=7.45;MQ=98.88;MQ0=0;OQ=2493.37;QD=12.79;RankSumP=0.425784;SB=-539.58;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.452G>T;refseq.codingCoordStr_2=c.518G>T;refseq.codonCoord_1=151;refseq.codonCoord_2=173;refseq.end_1=35282160;refseq.end_2=35282160;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=605;refseq.mrnaCoord_2=671;refseq.name2_1=ZPBP2;refseq.name2_2=ZPBP2;refseq.name_1=NM_198844;refseq.name_2=NM_199321;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S151I;refseq.proteinCoordStr_2=p.S173I;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-108;refseq.spliceDist_2=-108;refseq.start_1=35282160;refseq.start_2=35282160;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr17 35285200 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.61;MQ0=0;OQ=1661.78;QD=14.20;RankSumP=0.298351;SB=-412.38;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.810C>T;refseq.codingCoordStr_2=c.876C>T;refseq.codonCoord_1=270;refseq.codonCoord_2=292;refseq.end_1=35285200;refseq.end_2=35285200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=963;refseq.mrnaCoord_2=1029;refseq.name2_1=ZPBP2;refseq.name2_2=ZPBP2;refseq.name_1=NM_198844;refseq.name_2=NM_199321;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C270C;refseq.proteinCoordStr_2=p.C292C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=35285200;refseq.start_2=35285200;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr17 35315722 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=20.70;MQ=98.60;MQ0=0;OQ=1080.44;QD=10.00;RankSumP=0.426976;SB=-352.08;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.892C>T;refseq.codingCoordStr_2=c.931C>T;refseq.codingCoordStr_3=c.904C>T;refseq.codingCoordStr_4=c.865C>T;refseq.codonCoord_1=298;refseq.codonCoord_2=311;refseq.codonCoord_3=302;refseq.codonCoord_4=289;refseq.end_1=35315722;refseq.end_2=35315722;refseq.end_3=35315722;refseq.end_4=35315722;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1023;refseq.mrnaCoord_2=1062;refseq.mrnaCoord_3=1026;refseq.mrnaCoord_4=1089;refseq.name2_1=GSDMB;refseq.name2_2=GSDMB;refseq.name2_3=GSDMB;refseq.name2_4=GSDMB;refseq.name_1=NM_001042471;refseq.name_2=NM_001165958;refseq.name_3=NM_001165959;refseq.name_4=NM_018530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P298S;refseq.proteinCoordStr_2=p.P311S;refseq.proteinCoordStr_3=p.P302S;refseq.proteinCoordStr_4=p.P289S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.start_1=35315722;refseq.start_2=35315722;refseq.start_3=35315722;refseq.start_4=35315722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 1/0 chr17 35315743 . C T 176.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.46;MQ0=0;OQ=1646.37;QD=13.28;RankSumP=0.115055;SB=-713.71;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.871G>A;refseq.codingCoordStr_2=c.910G>A;refseq.codingCoordStr_3=c.883G>A;refseq.codingCoordStr_4=c.844G>A;refseq.codonCoord_1=291;refseq.codonCoord_2=304;refseq.codonCoord_3=295;refseq.codonCoord_4=282;refseq.end_1=35315743;refseq.end_2=35315743;refseq.end_3=35315743;refseq.end_4=35315743;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1002;refseq.mrnaCoord_2=1041;refseq.mrnaCoord_3=1005;refseq.mrnaCoord_4=1068;refseq.name2_1=GSDMB;refseq.name2_2=GSDMB;refseq.name2_3=GSDMB;refseq.name2_4=GSDMB;refseq.name_1=NM_001042471;refseq.name_2=NM_001165958;refseq.name_3=NM_001165959;refseq.name_4=NM_018530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G291R;refseq.proteinCoordStr_2=p.G304R;refseq.proteinCoordStr_3=p.G295R;refseq.proteinCoordStr_4=p.G282R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.spliceDist_4=22;refseq.start_1=35315743;refseq.start_2=35315743;refseq.start_3=35315743;refseq.start_4=35315743;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 0/1 chr17 35390890 . G A 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.141G>A;refseq.codonCoord=47;refseq.end=35390890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_002809;refseq.name2=PSMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S47S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-80;refseq.start=35390890;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/1 chr17 35399680 . T C 188.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.76;MQ0=0;OQ=2139.17;QD=15.61;RankSumP=0.360604;SB=-466.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.849T>C;refseq.codonCoord=283;refseq.end=35399680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_002809;refseq.name2=PSMD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N283N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-29;refseq.start=35399680;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr17 35426669 . G A 305.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.66;MQ0=0;OQ=2177.92;QD=18.15;RankSumP=0.261120;SB=-963.54;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.555G>A;refseq.codingCoordStr_2=c.546G>A;refseq.codingCoordStr_3=c.534G>A;refseq.codonCoord_1=185;refseq.codonCoord_2=182;refseq.codonCoord_3=178;refseq.end_1=35426669;refseq.end_2=35426669;refseq.end_3=35426669;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=595;refseq.mrnaCoord_2=586;refseq.mrnaCoord_3=762;refseq.name2_1=CSF3;refseq.name2_2=CSF3;refseq.name2_3=CSF3;refseq.name_1=NM_000759;refseq.name_2=NM_172219;refseq.name_3=NM_172220;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L185L;refseq.proteinCoordStr_2=p.L182L;refseq.proteinCoordStr_3=p.L178L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.spliceDist_3=96;refseq.start_1=35426669;refseq.start_2=35426669;refseq.start_3=35426669;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/0 chr17 35429392 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=14.90;MQ=97.91;MQ0=0;OQ=2413.48;QD=12.07;RankSumP=0.351022;SB=-830.37;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2847C>T;refseq.codingCoordStr_2=c.2886C>T;refseq.codonCoord_1=949;refseq.codonCoord_2=962;refseq.end_1=35429392;refseq.end_2=35429392;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3182;refseq.mrnaCoord_2=3199;refseq.name2_1=MED24;refseq.name2_2=MED24;refseq.name_1=NM_001079518;refseq.name_2=NM_014815;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S949S;refseq.proteinCoordStr_2=p.S962S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=35429392;refseq.start_2=35429392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr17 35429423 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2816T>G;refseq.codingCoordStr_2=c.2855T>G;refseq.codonCoord_1=939;refseq.codonCoord_2=952;refseq.end_1=35429423;refseq.end_2=35429423;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3151;refseq.mrnaCoord_2=3168;refseq.name2_1=MED24;refseq.name2_2=MED24;refseq.name_1=NM_001079518;refseq.name_2=NM_014815;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V939G;refseq.proteinCoordStr_2=p.V952G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=35429423;refseq.start_2=35429423;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 35433018 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=15.74;MQ=98.06;MQ0=0;OQ=1433.56;QD=10.39;RankSumP=0.139523;SB=-606.83;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2103T>C;refseq.codingCoordStr_2=c.2142T>C;refseq.codonCoord_1=701;refseq.codonCoord_2=714;refseq.end_1=35433018;refseq.end_2=35433018;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2438;refseq.mrnaCoord_2=2455;refseq.name2_1=MED24;refseq.name2_2=MED24;refseq.name_1=NM_001079518;refseq.name_2=NM_014815;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I701I;refseq.proteinCoordStr_2=p.I714I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-109;refseq.spliceDist_2=-109;refseq.start_1=35433018;refseq.start_2=35433018;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr17 35439632 . C T 136.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.67;MQ0=0;OQ=3131.81;QD=15.43;RankSumP=0.293748;SB=-839.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1122G>A;refseq.codingCoordStr_2=c.1161G>A;refseq.codonCoord_1=374;refseq.codonCoord_2=387;refseq.end_1=35439632;refseq.end_2=35439632;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1457;refseq.mrnaCoord_2=1474;refseq.name2_1=MED24;refseq.name2_2=MED24;refseq.name_1=NM_001079518;refseq.name_2=NM_014815;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A374A;refseq.proteinCoordStr_2=p.A387A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=35439632;refseq.start_2=35439632;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr17 35507147 . A G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=4;RankSumP=0.500112;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.67T>C;refseq.codonCoord=23;refseq.end=35507147;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_021724;refseq.name2=NR1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S23P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=36;refseq.start=35507147;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr17 35710677 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1353.21;QD=15.04;RankSumP=0.423532;SB=-478.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1321G>A;refseq.codonCoord=441;refseq.end=35710677;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_001254;refseq.name2=CDC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V441I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=72;refseq.start=35710677;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr17 35853618 rs598892 G A 23.45 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;QD=2.13;SB=-0.99;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.105G>A;refseq.codonCoord=35;refseq.end=35853618;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_001552;refseq.name2=IGFBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L35L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-245;refseq.start=35853618;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:9,2:8:-8.04,-2.41,-22.99:56.27 chr17 35894270 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=245.07;QD=7.21;RankSumP=0.631967;SB=-79.28;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1493G>A;refseq.codonCoord=498;refseq.end=35894270;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1657;refseq.name=NM_032865;refseq.name2=TNS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S498N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=35894270;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr17 35898651 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=3;HaplotypeScore=6.99;MQ=98.19;MQ0=0;OQ=1812.41;QD=20.36;RankSumP=0.00975824;SB=-390.32;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.536T>C;refseq.codonCoord=179;refseq.end=35898651;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=700;refseq.name=NM_032865;refseq.name2=TNS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L179P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=97;refseq.start=35898651;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 0/1 chr17 36041995 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.692T>G;refseq.codonCoord=231;refseq.end=36041995;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_003079;refseq.name2=SMARCE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V231G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-23;refseq.start=36041995;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr17 36109862 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1057G>C;refseq.codonCoord=353;refseq.end=36109862;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1114;refseq.name=NM_019016;refseq.name2=KRT24;refseq.positionType=CDS;refseq.proteinCoordStr=p.A353P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=40;refseq.start=36109862;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr17 36110034 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.983A>C;refseq.codonCoord=328;refseq.end=36110034;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_019016;refseq.name2=KRT24;refseq.positionType=CDS;refseq.proteinCoordStr=p.N328T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-35;refseq.start=36110034;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 36160244 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=104;Dels=0.00;HRun=2;HaplotypeScore=1.30;MQ=88.20;MQ0=8;OQ=1641.74;QD=15.79;RankSumP=0.390884;SB=-503.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1089G>A;refseq.codonCoord=363;refseq.end=36160244;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1150;refseq.name=NM_181534;refseq.name2=KRT25;refseq.positionType=CDS;refseq.proteinCoordStr=p.K363K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-87;refseq.start=36160244;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr17 36164915 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.135C>T;refseq.codonCoord=45;refseq.end=36164915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_181534;refseq.name2=KRT25;refseq.positionType=CDS;refseq.proteinCoordStr=p.F45F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=196;refseq.start=36164915;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr17 36189402 . C T 155.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=98.33;MQ0=0;OQ=884.51;QD=14.27;RankSumP=0.505747;SB=-334.34;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.850G>A;refseq.codonCoord=284;refseq.end=36189402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_181537;refseq.name2=KRT27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A284T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=36189402;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr17 36192083 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=205;Dels=0.00;HRun=0;HaplotypeScore=32.22;MQ=98.42;MQ0=0;OQ=2572.21;QD=12.55;RankSumP=0.0976826;SB=-1248.09;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.189C>T;refseq.codonCoord=63;refseq.end=36192083;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_181537;refseq.name2=KRT27;refseq.positionType=CDS;refseq.proteinCoordStr=p.G63G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=230;refseq.start=36192083;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr17 36192117 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=33.50;MQ=98.21;MQ0=0;OQ=1739.72;QD=10.17;RankSumP=0.256029;SB=-779.89;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.155G>C;refseq.codonCoord=52;refseq.end=36192117;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_181537;refseq.name2=KRT27;refseq.positionType=CDS;refseq.proteinCoordStr=p.S52T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=196;refseq.start=36192117;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr17 36192137 . G A 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=9.60217e-09;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.135C>T;refseq.codonCoord=45;refseq.end=36192137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=176;refseq.name=NM_181537;refseq.name2=KRT27;refseq.positionType=CDS;refseq.proteinCoordStr=p.F45F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=176;refseq.start=36192137;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr17 36203798 . T C 221.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=91.69;MQ0=1;OQ=4599.03;QD=35.38;RankSumP=1.00000;SB=-2132.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1005A>G;refseq.codonCoord=335;refseq.end=36203798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1071;refseq.name=NM_181535;refseq.name2=KRT28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T335T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=27;refseq.start=36203798;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 36209487 . G A 353.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=2.77;MQ=98.85;MQ0=0;OQ=6986.93;QD=39.03;RankSumP=1.00000;SB=-2774.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.185C>T;refseq.codonCoord=62;refseq.end=36209487;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_181535;refseq.name2=KRT28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A62V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=251;refseq.start=36209487;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr17 36232062 . A C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=14.69;MQ=98.09;MQ0=0;OQ=6643.88;QD=33.05;RankSumP=1.00000;SB=-673.04;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.302T>G;refseq.codonCoord_2=101;refseq.end_1=36242882;refseq.end_2=36232062;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=328;refseq.name2_1=TMEM99;refseq.name2_2=KRT10;refseq.name_1=NM_145274;refseq.name_2=NM_000421;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I101S;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-326;refseq.start_1=36228997;refseq.start_2=36232062;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr17 36244360 . G C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=3;HaplotypeScore=1.95;MQ=98.86;MQ0=0;OQ=13345.00;QD=48.70;RankSumP=1.00000;SB=-5005.15;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.66G>C;refseq.codonCoord=22;refseq.end=36244360;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_145274;refseq.name2=TMEM99;refseq.positionType=CDS;refseq.proteinCoordStr=p.V22V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=201;refseq.start=36244360;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr17 36244529 . T C 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=761;Dels=0.00;HRun=1;HaplotypeScore=23.70;MQ=98.84;MQ0=0;OQ=31331.52;QD=41.17;RankSumP=1.00000;SB=-13194.17;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.235T>C;refseq.codonCoord=79;refseq.end=36244529;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_145274;refseq.name2=TMEM99;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y79H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=370;refseq.start=36244529;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr17 36244558 . T A 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=799;Dels=0.00;HRun=0;HaplotypeScore=22.68;MQ=98.74;MQ0=0;OQ=31309.42;QD=39.19;RankSumP=1.00000;SB=-15598.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.264T>A;refseq.codonCoord=88;refseq.end=36244558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_145274;refseq.name2=TMEM99;refseq.positionType=CDS;refseq.proteinCoordStr=p.G88G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=399;refseq.start=36244558;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 36335239 . A G 345.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.68;MQ0=0;OQ=6319.37;QD=18.98;RankSumP=0.341879;SB=-1359.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=36335239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1624;refseq.name=NM_015515;refseq.name2=KRT23;refseq.positionType=CDS;refseq.proteinCoordStr=p.H345H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-108;refseq.start=36335239;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 36338030 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=952;Dels=0.00;HRun=1;HaplotypeScore=15.05;MQ=98.89;MQ0=0;OQ=18346.40;QD=19.27;RankSumP=0.137354;SB=-6739.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.907A>G;refseq.codonCoord=303;refseq.end=36338030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1496;refseq.name=NM_015515;refseq.name2=KRT23;refseq.positionType=CDS;refseq.proteinCoordStr=p.T303A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-15;refseq.start=36338030;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr17 36346310 . C T 113.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=97.51;MQ0=0;OQ=567.62;QD=16.69;RankSumP=0.651579;SB=-242.55;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.72G>A;refseq.codonCoord=24;refseq.end=36346310;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_015515;refseq.name2=KRT23;refseq.positionType=CDS;refseq.proteinCoordStr=p.R24R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-325;refseq.start=36346310;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr17 36370254 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.485419;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1022C>T;refseq.codonCoord=341;refseq.end=36370254;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_213656;refseq.name2=KRT39;refseq.positionType=CDS;refseq.proteinCoordStr=p.T341M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=26;refseq.start=36370254;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr17 36376539 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.280704;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.96C>T;refseq.codonCoord=32;refseq.end=36376539;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_213656;refseq.name2=KRT39;refseq.positionType=CDS;refseq.proteinCoordStr=p.N32N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=132;refseq.start=36376539;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=soap GT 1/0 chr17 36387981 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.128415;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1290C>T;refseq.codonCoord=430;refseq.end=36387981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.C430C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=94;refseq.start=36387981;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 1/0 chr17 36388610 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.416437;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1168T>C;refseq.codonCoord=390;refseq.end=36388610;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.W390R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-29;refseq.start=36388610;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr17 36388615 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0907417;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1163C>T;refseq.codonCoord=388;refseq.end=36388615;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1324;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.T388M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-34;refseq.start=36388615;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr17 36388731 . A G 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1047T>C;refseq.codonCoord=349;refseq.end=36388731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1208;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.C349C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=72;refseq.start=36388731;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/1 chr17 36388733 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0571050;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1045T>C;refseq.codonCoord=349;refseq.end=36388733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.C349R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=70;refseq.start=36388733;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=soap GT 0/1 chr17 36388740 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.455766;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1038A>G;refseq.codonCoord=346;refseq.end=36388740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1199;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q346Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=63;refseq.start=36388740;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr17 36390630 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.132231;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.908T>C;refseq.codonCoord=303;refseq.end=36390630;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.M303T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=59;refseq.start=36390630;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap GT 0/1 chr17 36390680 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.412975;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.858G>C;refseq.codonCoord=286;refseq.end=36390680;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.E286D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=36390680;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr17 36390823 . C T 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.794G>A;refseq.codonCoord=265;refseq.end=36390823;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.C265Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-56;refseq.start=36390823;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/1 chr17 36390913 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.148463;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.704G>A;refseq.codonCoord=235;refseq.end=36390913;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=865;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.R235H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=17;refseq.start=36390913;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap GT 0/1 chr17 36392238 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.422263;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.534C>T;refseq.codonCoord=178;refseq.end=36392238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=695;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y178Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=36392238;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chr17 36392874 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.339577;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.480T>C;refseq.codonCoord=160;refseq.end=36392874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.L160L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=33;refseq.start=36392874;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr17 36392896 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.474111;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.458C>T;refseq.codonCoord=153;refseq.end=36392896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.T153M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=11;refseq.start=36392896;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap GT 1/0 chr17 36393747 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.108506;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.305G>A;refseq.codonCoord=102;refseq.end=36393747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-143;refseq.start=36393747;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr17 36393798 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.103059;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.254T>C;refseq.codonCoord=85;refseq.end=36393798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=415;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.F85S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-194;refseq.start=36393798;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr17 36393943 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.208011;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.109A>G;refseq.codonCoord=37;refseq.end=36393943;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_182497;refseq.name2=KRT40;refseq.positionType=CDS;refseq.proteinCoordStr=p.T37A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=110;refseq.start=36393943;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 1/0 chr17 36403693 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.536238;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.183C>T;refseq.codonCoord=61;refseq.end=36403693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_033185;refseq.name2=KRTAP3-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C61C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=219;refseq.start=36403693;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 1/0 chr17 36403717 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.000177312;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.159A>C;refseq.codonCoord=53;refseq.end=36403717;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_033185;refseq.name2=KRTAP3-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P53P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=195;refseq.start=36403717;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 36403810 . A G 99 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=236;Dels=0.00;HRun=1;HaplotypeScore=12.82;MQ=2.16;MQ0=234;QD=0.17;RankSumP=0.000459999;SB=-10.00;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.66T>C;refseq.codonCoord=22;refseq.end=36403810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=102;refseq.name=NM_033185;refseq.name2=KRTAP3-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S22S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=102;refseq.start=36403810;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr17 36409407 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.119483;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.225G>A;refseq.codonCoord=75;refseq.end=36409407;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_031959;refseq.name2=KRTAP3-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P75P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=258;refseq.start=36409407;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 0/1 chr17 36409495 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.684164;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.137T>C;refseq.codonCoord=46;refseq.end=36409495;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_031959;refseq.name2=KRTAP3-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I46T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=170;refseq.start=36409495;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 0/1 chr17 36409593 . A G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=2.11034e-07;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.39T>C;refseq.codonCoord=13;refseq.end=36409593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_031959;refseq.name2=KRTAP3-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=72;refseq.start=36409593;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr17 36409610 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.0597829;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.22A>G;refseq.codonCoord=8;refseq.end=36409610;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=55;refseq.name=NM_031959;refseq.name2=KRTAP3-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S8G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=55;refseq.start=36409610;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 1/0 chr17 36418816 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.37A>C;refseq.codonCoord=13;refseq.end=36418816;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_031958;refseq.name2=KRTAP3-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=77;refseq.start=36418816;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 36444479 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.00116073;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.121C>G;refseq.codonCoord=41;refseq.end=36444479;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_030966;refseq.name2=KRTAP1-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q41E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=155;refseq.start=36444479;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr17 36444480 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.00267508;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.120C>T;refseq.codonCoord=40;refseq.end=36444480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=154;refseq.name=NM_030966;refseq.name2=KRTAP1-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C40C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=154;refseq.start=36444480;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr17 36559172 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=65.62;MQ0=7;OQ=997.43;QD=10.96;RankSumP=0.298509;SB=-517.72;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.374G>A;refseq.codonCoord=125;refseq.end=36559172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_033188;refseq.name2=KRTAP4-5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C125Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=409;refseq.start=36559172;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr17 36559311 . A T 163.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=6.72;MQ=79.21;MQ0=0;OQ=1142.79;QD=18.14;RankSumP=0.00878930;SB=-453.26;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.235T>A;refseq.codonCoord=79;refseq.end=36559311;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=270;refseq.name=NM_033188;refseq.name2=KRTAP4-5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C79S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=270;refseq.start=36559311;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 0/1 chr17 36559482 . G A 160.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=11.33;MQ=93.41;MQ0=1;OQ=4766.34;QD=32.87;RankSumP=1.00000;SB=-2279.97;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.64C>T;refseq.codonCoord=22;refseq.end=36559482;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=99;refseq.name=NM_033188;refseq.name2=KRTAP4-5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R22C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=99;refseq.start=36559482;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr17 36577720 . G A 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=23;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=36577720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_033187;refseq.name2=KRTAP4-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S77S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=231;refseq.start=36577720;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/1 chr17 36587659 . T C 192.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=7.72;MQ=79.41;MQ0=34;OQ=5534.52;QD=25.62;RankSumP=1.00000;SB=-1988.44;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.284A>G;refseq.codonCoord=95;refseq.end=36587659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_033062;refseq.name2=KRTAP4-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y95C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=328;refseq.start=36587659;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr17 36636462 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.122313;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.30G>A;refseq.codonCoord=10;refseq.end=36636462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=37;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q10Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=37;refseq.start=36636462;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 1/0 chr17 36636468 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=885;Dels=0.00;HRun=0;HaplotypeScore=131.20;MQ=22.10;MQ0=440;OQ=1892.02;QD=2.14;RankSumP=0.412339;SB=-320.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.36C>A;refseq.codonCoord=12;refseq.end=36636468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=43;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T12T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=43;refseq.start=36636468;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 1/0 chr17 36636538 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=27.41;MQ=28.88;MQ0=258;OQ=2423.22;QD=5.22;RankSumP=0.299582;SB=-107.53;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.106C>T;refseq.codonCoord=36;refseq.end=36636538;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P36S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=113;refseq.start=36636538;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 36636553 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.371194;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.121G>T;refseq.codonCoord=41;refseq.end=36636553;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=128;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=128;refseq.start=36636553;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap GT 0/1 chr17 36636567 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.113339;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.135C>T;refseq.codonCoord=45;refseq.end=36636567;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=142;refseq.start=36636567;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 0/1 chr17 36636595 . A G 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.326190;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.163A>G;refseq.codonCoord=55;refseq.end=36636595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T55A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=170;refseq.start=36636595;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 0/1 chr17 36636599 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=401;Dels=0.00;HRun=1;HaplotypeScore=36.65;MQ=46.96;MQ0=53;OQ=13689.75;QD=34.14;RankSumP=0.221602;SB=-6590.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.167G>C;refseq.codonCoord=56;refseq.end=36636599;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C56S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=174;refseq.start=36636599;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 36636646 . G C 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.247274;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.214G>C;refseq.codonCoord=72;refseq.end=36636646;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=221;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V72L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=221;refseq.start=36636646;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr17 36636861 . C G 49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=15.53;MQ=9.92;MQ0=338;OQ=358.15;QD=0.91;RankSumP=1.00000;SB=-107.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.429C>G;refseq.codonCoord=143;refseq.end=36636861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_031961;refseq.name2=KRTAP9-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P143P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=436;refseq.start=36636861;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 36642378 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=292;Dels=0.00;HRun=1;HaplotypeScore=19.11;MQ=27.90;MQ0=189;OQ=1590.76;QD=5.45;RankSumP=1.00000;SB=-569.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=36642378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_031962;refseq.name2=KRTAP9-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C33C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=138;refseq.start=36642378;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr17 36648008 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.000576117;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.179T>C;refseq.codonCoord=60;refseq.end=36648008;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_031963;refseq.name2=KRTAP9-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.I60T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=213;refseq.start=36648008;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 36648057 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.126043;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=36648057;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=262;refseq.name=NM_031963;refseq.name2=KRTAP9-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C76C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=262;refseq.start=36648057;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 1/0 chr17 36648200 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=17.24;MQ=26.16;MQ0=230;OQ=1884.73;QD=5.76;RankSumP=1.00000;SB=-563.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.371A>G;refseq.codonCoord=124;refseq.end=36648200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=405;refseq.name=NM_031963;refseq.name2=KRTAP9-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N124S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=405;refseq.start=36648200;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr17 36648255 . C A 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=414;Dels=0.00;HRun=1;HaplotypeScore=9.12;MQ=11.82;MQ0=401;OQ=484.46;QD=1.17;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.426C>A;refseq.codonCoord=142;refseq.end=36648255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=460;refseq.name=NM_031963;refseq.name2=KRTAP9-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T142T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=460;refseq.start=36648255;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/1 chr17 36648281 . C A 8 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=441;Dels=0.00;HRun=0;HaplotypeScore=8.35;MQ=9.15;MQ0=430;OQ=366.55;QD=0.83;RankSumP=0.333333;SB=-10.00;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.452C>A;refseq.codonCoord=151;refseq.end=36648281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_031963;refseq.name2=KRTAP9-8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=486;refseq.start=36648281;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 1/0 chr17 36659528 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=745;Dels=0.00;HRun=1;HaplotypeScore=29.65;MQ=23.10;MQ0=243;OQ=5443.36;QD=7.31;RankSumP=0.374767;SB=-2064.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.30G>A;refseq.codonCoord=10;refseq.end=36659528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=64;refseq.name=NM_033191;refseq.name2=KRTAP9-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q10Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=64;refseq.start=36659528;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr17 36659604 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=355;Dels=0.00;HRun=0;HaplotypeScore=17.32;MQ=24.93;MQ0=243;OQ=322.88;QD=0.91;RankSumP=0.0408470;SB=98.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.106C>T;refseq.codonCoord=36;refseq.end=36659604;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_033191;refseq.name2=KRTAP9-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P36S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=140;refseq.start=36659604;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 36659630 . T G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=15.60;MQ=31.35;MQ0=201;OQ=1775.77;QD=6.21;RankSumP=1.00000;SB=-241.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.132T>G;refseq.codonCoord=44;refseq.end=36659630;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=166;refseq.name=NM_033191;refseq.name2=KRTAP9-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V44V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=166;refseq.start=36659630;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr17 36659935 . C A 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=530;Dels=0.00;HRun=0;HaplotypeScore=15.13;MQ=95.46;MQ0=2;OQ=18562.92;QD=35.02;RankSumP=1.00000;SB=-8417.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.437C>A;refseq.codonCoord=146;refseq.end=36659935;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_033191;refseq.name2=KRTAP9-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S146Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=471;refseq.start=36659935;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 36725336 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=3.17420e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.93C>G;refseq.codonCoord=31;refseq.end=36725336;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=138;refseq.name=NM_031964;refseq.name2=KRTAP17-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C31W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=138;refseq.start=36725336;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr17 36774668 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=7.91;MQ=49.72;MQ0=222;OQ=2179.59;QD=5.77;RankSumP=0.198342;SB=-565.60;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.986G>A;refseq.codonCoord=329;refseq.end=36774668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_002279;refseq.name2=KRT33B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R329H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=110;refseq.start=36774668;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 36789385 . A G 333.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=247;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=79.09;MQ0=5;OQ=9385.41;QD=38.00;RankSumP=1.00000;SB=-4273.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.839T>C;refseq.codonCoord=280;refseq.end=36789385;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_021013;refseq.name2=KRT34;refseq.positionType=CDS;refseq.proteinCoordStr=p.I280T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-38;refseq.start=36789385;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr17 36834085 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=97.10;MQ0=0;OQ=1270.64;QD=11.77;RankSumP=0.0923285;SB=-340.50;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.217A>T;refseq.codonCoord=73;refseq.end=36834085;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=264;refseq.name=NM_003770;refseq.name2=KRT37;refseq.positionType=CDS;refseq.proteinCoordStr=p.S73C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=264;refseq.start=36834085;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr17 36834088 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=96.96;MQ0=0;OQ=1234.64;QD=12.22;RankSumP=0.193238;SB=-332.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.214A>G;refseq.codonCoord=72;refseq.end=36834088;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_003770;refseq.name2=KRT37;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=261;refseq.start=36834088;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr17 36834186 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.49;MQ0=0;OQ=324.93;QD=8.78;RankSumP=0.307740;SB=-149.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.116A>G;refseq.codonCoord=39;refseq.end=36834186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=163;refseq.name=NM_003770;refseq.name2=KRT37;refseq.positionType=CDS;refseq.proteinCoordStr=p.N39S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=163;refseq.start=36834186;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 36834265 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.20;MQ0=0;OQ=807.61;QD=12.62;RankSumP=0.200962;SB=-314.20;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.37G>T;refseq.codonCoord=13;refseq.end=36834265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_003770;refseq.name2=KRT37;refseq.positionType=CDS;refseq.proteinCoordStr=p.G13C;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=84;refseq.start=36834265;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr17 36847248 . C T 140.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=10.06;MQ=97.89;MQ0=0;OQ=1114.42;QD=18.89;RankSumP=0.605903;SB=-461.51;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1313G>A;refseq.codonCoord=438;refseq.end=36847248;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1736;refseq.name=NM_006771;refseq.name2=KRT38;refseq.positionType=CDS;refseq.proteinCoordStr=p.G438D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=72;refseq.start=36847248;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr17 36847294 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=3.64;MQ=98.44;MQ0=0;OQ=1284.09;QD=20.71;RankSumP=0.543649;SB=-543.99;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1267T>C;refseq.codonCoord=423;refseq.end=36847294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1690;refseq.name=NM_006771;refseq.name2=KRT38;refseq.positionType=CDS;refseq.proteinCoordStr=p.S423P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=26;refseq.start=36847294;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr17 36847912 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=386;Dels=0.00;HRun=1;HaplotypeScore=20.64;MQ=98.30;MQ0=1;OQ=6338.49;QD=16.42;RankSumP=0.401064;SB=-2188.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1200G>A;refseq.codonCoord=400;refseq.end=36847912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1623;refseq.name=NM_006771;refseq.name2=KRT38;refseq.positionType=CDS;refseq.proteinCoordStr=p.E400E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-42;refseq.start=36847912;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr17 36869956 . G T 284.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.01;MQ0=0;OQ=3178.37;QD=33.46;RankSumP=1.00000;SB=-546.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1279C>A;refseq.codonCoord=427;refseq.end=36869956;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1340;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.P427T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=62;refseq.start=36869956;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 36872619 . G A 163.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=95.45;MQ0=0;OQ=4987.77;QD=16.91;RankSumP=0.00564169;SB=-515.56;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1206C>T;refseq.codonCoord=402;refseq.end=36872619;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1267;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N402N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=36872619;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=filterInsoap-gatk GT 1/0 chr17 36872620 . T C 271.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=95.32;MQ0=0;OQ=4978.40;QD=16.54;RankSumP=0.203507;SB=-664.79;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1205A>G;refseq.codonCoord=402;refseq.end=36872620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N402S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-13;refseq.start=36872620;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr17 36872641 . G A 308.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=12.21;MQ=92.25;MQ0=3;OQ=7032.63;QD=16.74;RankSumP=0.0969906;SB=-1727.84;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1184C>T;refseq.codonCoord=395;refseq.end=36872641;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.T395M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-34;refseq.start=36872641;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr17 36872745 . G A 349.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=9.34;MQ=89.46;MQ0=1;OQ=4988.16;QD=17.63;RankSumP=0.254645;SB=-1714.03;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1080C>T;refseq.codonCoord=360;refseq.end=36872745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N360N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=84;refseq.start=36872745;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr17 36873925 . C T 259.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=272;Dels=0.00;HRun=1;HaplotypeScore=7.19;MQ=98.69;MQ0=0;OQ=4800.39;QD=17.65;RankSumP=0.152846;SB=-1762.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.927G>A;refseq.codonCoord=309;refseq.end=36873925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=988;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q309Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=57;refseq.start=36873925;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr17 36874091 . C T 106.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=255;Dels=0.00;HRun=0;HaplotypeScore=7.92;MQ=98.55;MQ0=0;OQ=5051.55;QD=19.81;RankSumP=0.393254;SB=-2076.36;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.839G>A;refseq.codonCoord=280;refseq.end=36874091;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.R280H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-32;refseq.start=36874091;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 36875594 . G T 211.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=8.05;MQ=98.78;MQ0=0;OQ=4586.00;QD=13.73;RankSumP=0.166351;SB=-1452.73;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.665C>A;refseq.codonCoord=222;refseq.end=36875594;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=726;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.S222Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-44;refseq.start=36875594;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr17 36876889 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=3.54;MQ=97.38;MQ0=0;OQ=886.52;QD=10.68;RankSumP=0.220654;SB=-197.96;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.215A>G;refseq.codonCoord=72;refseq.end=36876889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=276;refseq.name=NM_002278;refseq.name2=KRT32;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q72R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-254;refseq.start=36876889;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 36886843 . A G 225.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.41;MQ0=0;OQ=1076.58;QD=37.12;RankSumP=1.00000;SB=-382.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1359T>C;refseq.codonCoord=453;refseq.end=36886843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_002280;refseq.name2=KRT35;refseq.positionType=CDS;refseq.proteinCoordStr=p.G453G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-16;refseq.start=36886843;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 36886875 . G C 327.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.37;MQ0=0;OQ=1627.48;QD=36.99;RankSumP=1.00000;SB=-276.53;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1327C>G;refseq.codonCoord=443;refseq.end=36886875;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1370;refseq.name=NM_002280;refseq.name2=KRT35;refseq.positionType=CDS;refseq.proteinCoordStr=p.P443A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-48;refseq.start=36886875;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 36888151 . A G 83.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=97.24;MQ0=0;OQ=4084.50;QD=32.16;RankSumP=1.00000;SB=-1688.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.987T>C;refseq.codonCoord=329;refseq.end=36888151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_002280;refseq.name2=KRT35;refseq.positionType=CDS;refseq.proteinCoordStr=p.A329A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-13;refseq.start=36888151;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 36888720 . G A 348.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.62;MQ0=0;OQ=4717.74;QD=19.66;RankSumP=0.229138;SB=-1698.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.765C>T;refseq.codonCoord=255;refseq.end=36888720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_002280;refseq.name2=KRT35;refseq.positionType=CDS;refseq.proteinCoordStr=p.D255D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=54;refseq.start=36888720;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr17 36890770 . A G 307.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=5.35;MQ=98.45;MQ0=0;OQ=5688.45;QD=38.18;RankSumP=1.00000;SB=-1914.36;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.106T>C;refseq.codonCoord=36;refseq.end=36890770;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_002280;refseq.name2=KRT35;refseq.positionType=CDS;refseq.proteinCoordStr=p.S36P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=149;refseq.start=36890770;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 36896866 . T G 235.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.80;MQ0=0;OQ=3062.11;QD=15.70;RankSumP=0.338274;SB=-1141.59;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1070A>C;refseq.codonCoord=357;refseq.end=36896866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1070;refseq.name=NM_003771;refseq.name2=KRT36;refseq.positionType=CDS;refseq.proteinCoordStr=p.N357T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=83;refseq.start=36896866;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr17 36897172 . G A 423.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.91;MQ0=0;OQ=3588.10;QD=39.43;RankSumP=1.00000;SB=-1017.85;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.944C>T;refseq.codonCoord=315;refseq.end=36897172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_003771;refseq.name2=KRT36;refseq.positionType=CDS;refseq.proteinCoordStr=p.T315M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-44;refseq.start=36897172;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr17 36899547 . A G 416.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.67;MQ0=0;OQ=3491.24;QD=38.79;RankSumP=1.00000;SB=-1252.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.96T>C;refseq.codonCoord=32;refseq.end=36899547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_003771;refseq.name2=KRT36;refseq.positionType=CDS;refseq.proteinCoordStr=p.R32R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=96;refseq.start=36899547;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr17 36912720 . T C 391.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=97.92;MQ0=0;OQ=3844.77;QD=35.93;RankSumP=1.00000;SB=-1272.52;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.892A>G;refseq.codingCoordStr_2=c.892A>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.end_1=36912720;refseq.end_2=36912720;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=955;refseq.name2_1=KRT13;refseq.name2_2=KRT13;refseq.name_1=NM_002274;refseq.name_2=NM_153490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T298A;refseq.proteinCoordStr_2=p.T298A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=36912720;refseq.start_2=36912720;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr17 36913439 . G A 319.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=97.62;MQ0=0;OQ=1946.26;QD=34.75;RankSumP=1.00000;SB=-655.38;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.560C>T;refseq.codingCoordStr_2=c.560C>T;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.end_1=36913439;refseq.end_2=36913439;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=623;refseq.mrnaCoord_2=623;refseq.name2_1=KRT13;refseq.name2_2=KRT13;refseq.name_1=NM_002274;refseq.name_2=NM_153490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A187V;refseq.proteinCoordStr_2=p.A187V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=36913439;refseq.start_2=36913439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr17 36914892 . G C 240.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=8.05;MQ=98.60;MQ0=0;OQ=4962.23;QD=18.59;RankSumP=0.445283;SB=-1603.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.437C>G;refseq.codingCoordStr_2=c.437C>G;refseq.codonCoord_1=146;refseq.codonCoord_2=146;refseq.end_1=36914892;refseq.end_2=36914892;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=500;refseq.mrnaCoord_2=500;refseq.name2_1=KRT13;refseq.name2_2=KRT13;refseq.name_1=NM_002274;refseq.name_2=NM_153490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A146G;refseq.proteinCoordStr_2=p.A146G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=36914892;refseq.start_2=36914892;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr17 36915215 . G A 193.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.84;MQ0=0;OQ=970.93;QD=17.65;RankSumP=0.171590;SB=-287.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.114C>T;refseq.codingCoordStr_2=c.114C>T;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.end_1=36915215;refseq.end_2=36915215;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=177;refseq.mrnaCoord_2=177;refseq.name2_1=KRT13;refseq.name2_2=KRT13;refseq.name_1=NM_002274;refseq.name_2=NM_153490;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S38S;refseq.proteinCoordStr_2=p.S38S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.start_1=36915215;refseq.start_2=36915215;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr17 36924438 . G C 214.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.87;MQ0=0;OQ=9648.21;QD=45.73;RankSumP=1.00000;SB=-4761.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1262C>G;refseq.codonCoord=421;refseq.end=36924438;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1453;refseq.name=NM_002275;refseq.name2=KRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A421G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-12;refseq.start=36924438;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 36928148 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.458A>C;refseq.codonCoord=153;refseq.end=36928148;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=649;refseq.name=NM_002275;refseq.name2=KRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y153S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-41;refseq.start=36928148;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr17 36928167 . T C 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=13.20;MQ=98.23;MQ0=0;OQ=11785.12;QD=27.54;RankSumP=1.00000;SB=-5493.86;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.439A>G;refseq.codonCoord=147;refseq.end=36928167;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_002275;refseq.name2=KRT15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T147A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-60;refseq.start=36928167;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 36935001 . A G 308.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=95.69;MQ0=4;OQ=4241.64;QD=35.35;RankSumP=1.00000;SB=-1812.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.471T>C;refseq.codonCoord=157;refseq.end=36935001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_002276;refseq.name2=KRT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.N157N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-33;refseq.start=36935001;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 36937646 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.380A>C;refseq.codonCoord=127;refseq.end=36937646;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_002276;refseq.name2=KRT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y127S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-41;refseq.start=36937646;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr17 36937847 . G C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=5;HaplotypeScore=0.79;MQ=92.97;MQ0=0;OQ=1768.53;QD=41.13;RankSumP=1.00000;SB=-259.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.179C>G;refseq.codonCoord=60;refseq.end=36937847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_002276;refseq.name2=KRT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.A60G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-242;refseq.start=36937847;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 36937936 . G A 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=794.41;QD=39.72;RankSumP=1.00000;SB=-176.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.90C>T;refseq.codonCoord=30;refseq.end=36937936;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_002276;refseq.name2=KRT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.A30A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=232;refseq.start=36937936;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr17 36979731 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.788T>G;refseq.codonCoord=263;refseq.end=36979731;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_000226;refseq.name2=KRT9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V263G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=63;refseq.start=36979731;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 36981576 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=46.54;MQ=97.83;MQ0=0;OQ=1349.11;QD=10.07;RankSumP=0.00949276;SB=-237.78;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.195C>T;refseq.codonCoord=65;refseq.end=36981576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=261;refseq.name=NM_000226;refseq.name2=KRT9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G65G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=261;refseq.start=36981576;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr17 36981720 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.000175724;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.51T>G;refseq.codonCoord=17;refseq.end=36981720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=117;refseq.name=NM_000226;refseq.name2=KRT9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G17G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=117;refseq.start=36981720;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 36996325 . C A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.500168;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.288G>T;refseq.codonCoord=96;refseq.end=36996325;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_000526;refseq.name2=KRT14;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-238;refseq.start=36996325;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr17 36996333 . C T 162.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=63.04;MQ0=1;OQ=731.51;QD=22.86;RankSumP=1.00000;SB=-318.41;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.280G>A;refseq.codonCoord=94;refseq.end=36996333;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_000526;refseq.name2=KRT14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A94T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-246;refseq.start=36996333;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr17 36996382 . G A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=5.56;MQ=84.84;MQ0=0;OQ=118.00;QD=5.90;RankSumP=0.500000;SB=-79.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=36996382;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_000526;refseq.name2=KRT14;refseq.positionType=CDS;refseq.proteinCoordStr=p.S77S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=292;refseq.start=36996382;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 36996425 . C T 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=84.06;MQ0=0;OQ=444.59;QD=29.64;RankSumP=1.00000;SB=-191.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.188G>A;refseq.codonCoord=63;refseq.end=36996425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_000526;refseq.name2=KRT14;refseq.positionType=CDS;refseq.proteinCoordStr=p.C63Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=249;refseq.start=36996425;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 37033896 . T G 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=0.556009;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.392A>C;refseq.codonCoord=131;refseq.end=37033896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_000422;refseq.name2=KRT17;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y131S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-41;refseq.start=37033896;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr17 37033914 . G C 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=4;RankSumP=0.592334;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.374C>G;refseq.codonCoord=125;refseq.end=37033914;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_000422;refseq.name2=KRT17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P125R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-59;refseq.start=37033914;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 0/1 chr17 37125226 . G A 340.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.40;MQ0=0;OQ=7654.64;QD=40.93;RankSumP=1.00000;SB=-3053.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=37125226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=44;refseq.name=NM_000805;refseq.name2=GAST;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=17;refseq.start=37125226;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr17 37134815 . G C 208.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=98.63;MQ0=0;OQ=6264.94;QD=44.43;RankSumP=1.00000;SB=-2310.93;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1473C>G;refseq.codingCoordStr_2=c.1449C>G;refseq.codingCoordStr_3=c.1524C>G;refseq.codonCoord_1=491;refseq.codonCoord_2=483;refseq.codonCoord_3=508;refseq.end_1=37134815;refseq.end_2=37134815;refseq.end_3=37134815;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1485;refseq.mrnaCoord_2=1461;refseq.mrnaCoord_3=1536;refseq.name2_1=HAP1;refseq.name2_2=HAP1;refseq.name2_3=HAP1;refseq.name_1=NM_001079870;refseq.name_2=NM_001079871;refseq.name_3=NM_177977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F491L;refseq.proteinCoordStr_2=p.F483L;refseq.proteinCoordStr_3=p.F508L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.spliceDist_3=118;refseq.start_1=37134815;refseq.start_2=37134815;refseq.start_3=37134815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr17 37137591 . C A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.18;MQ0=0;OQ=3767.56;QD=38.84;RankSumP=1.00000;SB=-1597.01;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.1224G>T;refseq.codonCoord_3=408;refseq.end_1=37137968;refseq.end_2=37137968;refseq.end_3=37137591;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1236;refseq.name2_1=HAP1;refseq.name2_2=HAP1;refseq.name2_3=HAP1;refseq.name_1=NM_001079870;refseq.name_2=NM_001079871;refseq.name_3=NM_177977;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L408F;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=TTG;refseq.spliceDist_3=24;refseq.start_1=37136933;refseq.start_2=37136933;refseq.start_3=37137591;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Phe;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr17 37138109 . G A 354.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.86;MQ0=0;OQ=2273.18;QD=36.08;RankSumP=1.00000;SB=-538.65;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1094C>T;refseq.codingCoordStr_2=c.1070C>T;refseq.codingCoordStr_3=c.1070C>T;refseq.codonCoord_1=365;refseq.codonCoord_2=357;refseq.codonCoord_3=357;refseq.end_1=37138109;refseq.end_2=37138109;refseq.end_3=37138109;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1106;refseq.mrnaCoord_2=1082;refseq.mrnaCoord_3=1082;refseq.name2_1=HAP1;refseq.name2_2=HAP1;refseq.name2_3=HAP1;refseq.name_1=NM_001079870;refseq.name_2=NM_001079871;refseq.name_3=NM_177977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S365L;refseq.proteinCoordStr_2=p.S357L;refseq.proteinCoordStr_3=p.S357L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.start_1=37138109;refseq.start_2=37138109;refseq.start_3=37138109;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chr17 37144241 . A T 227.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.39;MQ0=0;OQ=2672.15;QD=35.16;RankSumP=1.00000;SB=-1086.62;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.172T>A;refseq.codingCoordStr_2=c.172T>A;refseq.codingCoordStr_3=c.172T>A;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.codonCoord_3=58;refseq.end_1=37144241;refseq.end_2=37144241;refseq.end_3=37144241;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=184;refseq.mrnaCoord_2=184;refseq.mrnaCoord_3=184;refseq.name2_1=HAP1;refseq.name2_2=HAP1;refseq.name2_3=HAP1;refseq.name_1=NM_001079870;refseq.name_2=NM_001079871;refseq.name_3=NM_177977;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S58T;refseq.proteinCoordStr_2=p.S58T;refseq.proteinCoordStr_3=p.S58T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=184;refseq.spliceDist_2=184;refseq.spliceDist_3=184;refseq.start_1=37144241;refseq.start_2=37144241;refseq.start_3=37144241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr17 37179451 . A G 204.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=97.87;MQ0=0;OQ=2375.44;QD=37.71;RankSumP=1.00000;SB=-1158.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.213T>C;refseq.codingCoordStr_2=c.213T>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=37179451;refseq.end_2=37179451;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=346;refseq.mrnaCoord_2=346;refseq.name2_1=JUP;refseq.name2_2=JUP;refseq.name_1=NM_002230;refseq.name_2=NM_021991;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D71D;refseq.proteinCoordStr_2=p.D71D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=37179451;refseq.start_2=37179451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr17 37237334 . G C 281.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.74;MQ0=0;OQ=7018.77;QD=47.11;RankSumP=1.00000;SB=-3178.22;SecondBestBaseQ=28;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.638C>G;refseq.codonCoord_3=213;refseq.end_1=37237334;refseq.end_2=37237334;refseq.end_3=37237334;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=940;refseq.mrnaCoord_3=716;refseq.name2_1=NT5C3L;refseq.name2_2=NT5C3L;refseq.name2_3=NT5C3L;refseq.name_1=NR_033464;refseq.name_2=NR_033465;refseq.name_3=NM_052935;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S213C;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.start_1=37237334;refseq.start_2=37237334;refseq.start_3=37237334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Cys;refseq.variantCodon_3=TGT;set=Intersection GT 1/1 chr17 37237346 . G A 398.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=6388.40;QD=41.48;RankSumP=1.00000;SB=-3170.68;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.626C>T;refseq.codonCoord_3=209;refseq.end_1=37237346;refseq.end_2=37237346;refseq.end_3=37237346;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=772;refseq.mrnaCoord_2=928;refseq.mrnaCoord_3=704;refseq.name2_1=NT5C3L;refseq.name2_2=NT5C3L;refseq.name2_3=NT5C3L;refseq.name_1=NR_033464;refseq.name_2=NR_033465;refseq.name_3=NM_052935;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A209V;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=37237346;refseq.start_2=37237346;refseq.start_3=37237346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr17 37237375 . G C 94.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.72;MQ0=0;OQ=6839.32;QD=49.20;RankSumP=1.00000;SB=-2229.97;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.597C>G;refseq.codonCoord_3=199;refseq.end_1=37237375;refseq.end_2=37237375;refseq.end_3=37237375;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=743;refseq.mrnaCoord_2=899;refseq.mrnaCoord_3=675;refseq.name2_1=NT5C3L;refseq.name2_2=NT5C3L;refseq.name2_3=NT5C3L;refseq.name_1=NR_033464;refseq.name_2=NR_033465;refseq.name_3=NM_052935;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L199L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=37237375;refseq.start_2=37237375;refseq.start_3=37237375;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr17 37240656 . T C 334.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.95;MQ0=0;OQ=9312.30;QD=38.01;RankSumP=1.00000;SB=-3514.64;SecondBestBaseQ=34;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.327A>G;refseq.codonCoord_3=109;refseq.end_1=37240656;refseq.end_2=37240656;refseq.end_3=37240656;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=473;refseq.mrnaCoord_2=629;refseq.mrnaCoord_3=405;refseq.name2_1=NT5C3L;refseq.name2_2=NT5C3L;refseq.name2_3=NT5C3L;refseq.name_1=NR_033464;refseq.name_2=NR_033465;refseq.name_3=NM_052935;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A109A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.start_1=37240656;refseq.start_2=37240656;refseq.start_3=37240656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr17 37251623 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.217A>G;refseq.codonCoord=73;refseq.end=37251623;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_152467;refseq.name2=KLHL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.N73D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=23;refseq.start=37251623;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr17 37251667 . C T 228.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=98.65;MQ0=0;OQ=15211.01;QD=38.90;RankSumP=1.00000;SB=-7406.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.261C>T;refseq.codonCoord=87;refseq.end=37251667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_152467;refseq.name2=KLHL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P87P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=67;refseq.start=37251667;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 37264505 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=607;Dels=0.00;HRun=3;HaplotypeScore=13.77;MQ=98.97;MQ0=0;OQ=24974.81;QD=41.14;RankSumP=1.00000;SB=-12260.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1140C>T;refseq.codonCoord=380;refseq.end=37264505;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_018143;refseq.name2=KLHL11;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y380Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=595;refseq.start=37264505;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr17 37275024 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=93.45;MQ0=0;OQ=430.80;QD=8.62;RankSumP=0.334095;SB=-96.57;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.126C>T;refseq.codonCoord=42;refseq.end=37275024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_018143;refseq.name2=KLHL11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G42G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=132;refseq.start=37275024;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr17 37279311 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2993T>C;refseq.codingCoordStr_2=c.2963T>C;refseq.codonCoord_1=998;refseq.codonCoord_2=988;refseq.end_1=37279311;refseq.end_2=37279311;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3156;refseq.mrnaCoord_2=3126;refseq.name2_1=ACLY;refseq.name2_2=ACLY;refseq.name_1=NM_001096;refseq.name_2=NM_198830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F998S;refseq.proteinCoordStr_2=p.F988S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=37279311;refseq.start_2=37279311;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr17 37297387 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1866A>C;refseq.codingCoordStr_2=c.1836A>C;refseq.codonCoord_1=622;refseq.codonCoord_2=612;refseq.end_1=37297387;refseq.end_2=37297387;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2029;refseq.mrnaCoord_2=1999;refseq.name2_1=ACLY;refseq.name2_2=ACLY;refseq.name_1=NM_001096;refseq.name_2=NM_198830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G622G;refseq.proteinCoordStr_2=p.G612G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=37297387;refseq.start_2=37297387;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr17 37302139 . A G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=8.46;MQ=98.77;MQ0=0;OQ=13134.34;QD=39.92;RankSumP=1.00000;SB=-5472.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1689T>C;refseq.codingCoordStr_2=c.1659T>C;refseq.codonCoord_1=563;refseq.codonCoord_2=553;refseq.end_1=37302139;refseq.end_2=37302139;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1852;refseq.mrnaCoord_2=1822;refseq.name2_1=ACLY;refseq.name2_2=ACLY;refseq.name_1=NM_001096;refseq.name_2=NM_198830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H563H;refseq.proteinCoordStr_2=p.H553H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=37302139;refseq.start_2=37302139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr17 37374003 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.395A>G;refseq.codonCoord=132;refseq.end=37374003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=539;refseq.name=NM_033133;refseq.name2=CNP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E132G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-282;refseq.start=37374003;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 37379390 . G A 388.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=98.83;MQ0=0;OQ=8393.74;QD=40.16;RankSumP=1.00000;SB=-2233.44;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1188G>A;refseq.codonCoord=396;refseq.end=37379390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1332;refseq.name=NM_033133;refseq.name2=CNP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G396G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=372;refseq.start=37379390;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 37433218 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;set=FilteredInAll GT 0/1 chr17 37509338 . C T 178.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=97.27;MQ0=0;OQ=728.42;QD=20.81;RankSumP=0.629526;SB=-272.77;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1568G>A;refseq.codonCoord=523;refseq.end=37509338;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1791;refseq.name=NM_024119;refseq.name2=DHX58;refseq.positionType=CDS;refseq.proteinCoordStr=p.R523Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=37509338;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr17 37516357 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.471A>C;refseq.codonCoord=157;refseq.end=37516357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_024119;refseq.name2=DHX58;refseq.positionType=CDS;refseq.proteinCoordStr=p.A157A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-91;refseq.start=37516357;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr17 37697589 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.359T>G;refseq.codonCoord=120;refseq.end=37697589;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1001;refseq.name=NM_003152;refseq.name2=STAT5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V120G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-17;refseq.start=37697589;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr17 37722422 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.2165A>C;refseq.codingCoordStr_3=c.2168A>C;refseq.codonCoord_2=722;refseq.codonCoord_3=723;refseq.end_1=37722715;refseq.end_2=37722422;refseq.end_3=37722422;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=2383;refseq.mrnaCoord_3=2408;refseq.name2_1=STAT3;refseq.name2_2=STAT3;refseq.name2_3=STAT3;refseq.name_1=NM_213662;refseq.name_2=NM_003150;refseq.name_3=NM_139276;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D722A;refseq.proteinCoordStr_3=p.D723A;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=37722406;refseq.start_2=37722422;refseq.start_3=37722422;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 1/0 chr17 37828403 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.239C>G;refseq.codonCoord=80;refseq.end=37828403;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=462;refseq.name=NM_012232;refseq.name2=PTRF;refseq.positionType=CDS;refseq.proteinCoordStr=p.A80G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-233;refseq.start=37828403;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 37884019 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.540T>G;refseq.codingCoordStr_2=c.519T>G;refseq.codingCoordStr_3=c.519T>G;refseq.codonCoord_1=180;refseq.codonCoord_2=173;refseq.codonCoord_3=173;refseq.end_1=37884019;refseq.end_2=37884019;refseq.end_3=37884019;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=707;refseq.mrnaCoord_2=686;refseq.mrnaCoord_3=686;refseq.name2_1=ATP6V0A1;refseq.name2_2=ATP6V0A1;refseq.name2_3=ATP6V0A1;refseq.name_1=NM_001130020;refseq.name_2=NM_001130021;refseq.name_3=NM_005177;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G180G;refseq.proteinCoordStr_2=p.G173G;refseq.proteinCoordStr_3=p.G173G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.start_1=37884019;refseq.start_2=37884019;refseq.start_3=37884019;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 37942981 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=448;Dels=0.00;HRun=1;HaplotypeScore=15.49;MQ=98.58;MQ0=0;OQ=17914.35;QD=39.99;RankSumP=1.00000;SB=-7510.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.423T>C;refseq.codonCoord=141;refseq.end=37942981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_000263;refseq.name2=NAGLU;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=40;refseq.start=37942981;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 37948617 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=2.98554e-06;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1067A>C;refseq.codonCoord=356;refseq.end=37948617;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1407;refseq.name=NM_000263;refseq.name2=NAGLU;refseq.positionType=CDS;refseq.proteinCoordStr=p.H356P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=46;refseq.start=37948617;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 37949759 . C G 206.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=7.08;MQ=98.74;MQ0=0;OQ=5953.67;QD=43.46;RankSumP=1.00000;SB=-2833.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2209C>G;refseq.codonCoord=737;refseq.end=37949759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2549;refseq.name=NM_000263;refseq.name2=NAGLU;refseq.positionType=CDS;refseq.proteinCoordStr=p.R737G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-234;refseq.start=37949759;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 37960432 . G A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=79.78;QD=13.30;RankSumP=0.571429;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.937G>A;refseq.codonCoord=313;refseq.end=37960432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_000413;refseq.name2=HSD17B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G313S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=220;refseq.start=37960432;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 37968330 . C A 148.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=98.69;MQ0=0;OQ=1430.62;QD=12.66;RankSumP=0.370648;SB=-713.11;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_2=c.164C>A;refseq.codingCoordStr_3=c.164C>A;refseq.codingCoordStr_4=c.251C>A;refseq.codingCoordStr_5=c.164C>A;refseq.codonCoord_2=55;refseq.codonCoord_3=55;refseq.codonCoord_4=84;refseq.codonCoord_5=55;refseq.end_1=37968466;refseq.end_2=37968330;refseq.end_3=37968330;refseq.end_4=37968330;refseq.end_5=37968330;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=321;refseq.mrnaCoord_3=577;refseq.mrnaCoord_4=453;refseq.mrnaCoord_5=713;refseq.name2_1=COASY;refseq.name2_2=COASY;refseq.name2_3=COASY;refseq.name2_4=COASY;refseq.name2_5=COASY;refseq.name_1=NM_001042531;refseq.name_2=NM_001042529;refseq.name_3=NM_001042530;refseq.name_4=NM_001042532;refseq.name_5=NM_025233;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S55Y;refseq.proteinCoordStr_3=p.S55Y;refseq.proteinCoordStr_4=p.S84Y;refseq.proteinCoordStr_5=p.S55Y;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_2=175;refseq.spliceDist_3=431;refseq.spliceDist_4=175;refseq.spliceDist_5=-537;refseq.start_1=37967774;refseq.start_2=37968330;refseq.start_3=37968330;refseq.start_4=37968330;refseq.start_5=37968330;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;refseq.variantCodon_5=TAC;set=Intersection GT 1/0 chr17 37970046 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=15.94;MQ=98.87;MQ0=0;OQ=2413.88;QD=12.07;RankSumP=0.135936;SB=-1045.73;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.972A>G;refseq.codingCoordStr_2=c.972A>G;refseq.codingCoordStr_3=c.87A>G;refseq.codingCoordStr_4=c.1059A>G;refseq.codingCoordStr_5=c.972A>G;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.codonCoord_3=29;refseq.codonCoord_4=353;refseq.codonCoord_5=324;refseq.end_1=37970046;refseq.end_2=37970046;refseq.end_3=37970046;refseq.end_4=37970046;refseq.end_5=37970046;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1129;refseq.mrnaCoord_2=1385;refseq.mrnaCoord_3=808;refseq.mrnaCoord_4=1261;refseq.mrnaCoord_5=1521;refseq.name2_1=COASY;refseq.name2_2=COASY;refseq.name2_3=COASY;refseq.name2_4=COASY;refseq.name2_5=COASY;refseq.name_1=NM_001042529;refseq.name_2=NM_001042530;refseq.name_3=NM_001042531;refseq.name_4=NM_001042532;refseq.name_5=NM_025233;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T324T;refseq.proteinCoordStr_2=p.T324T;refseq.proteinCoordStr_3=p.T29T;refseq.proteinCoordStr_4=p.T353T;refseq.proteinCoordStr_5=p.T324T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.spliceDist_4=57;refseq.spliceDist_5=57;refseq.start_1=37970046;refseq.start_2=37970046;refseq.start_3=37970046;refseq.start_4=37970046;refseq.start_5=37970046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 0/1 chr17 37975555 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=509;Dels=0.00;HRun=2;HaplotypeScore=4.79;MQ=98.88;MQ0=0;OQ=8429.89;QD=16.56;RankSumP=0.357653;SB=-3090.01;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.668A>G;refseq.codingCoordStr_2=c.506A>G;refseq.codingCoordStr_3=c.416A>G;refseq.codonCoord_1=223;refseq.codonCoord_2=169;refseq.codonCoord_3=139;refseq.end_1=37975555;refseq.end_2=37975555;refseq.end_3=37975555;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=571;refseq.mrnaCoord_3=481;refseq.name2_1=MLX;refseq.name2_2=MLX;refseq.name2_3=MLX;refseq.name_1=NM_170607;refseq.name_2=NM_198204;refseq.name_3=NM_198205;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q223R;refseq.proteinCoordStr_2=p.Q169R;refseq.proteinCoordStr_3=p.Q139R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=37975555;refseq.start_2=37975555;refseq.start_3=37975555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr17 37987648 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1110A>C;refseq.codonCoord_2=370;refseq.end_1=37987648;refseq.end_2=37987648;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1213;refseq.name2_1=FAM134C;refseq.name2_2=FAM134C;refseq.name_1=NR_026697;refseq.name_2=NM_178126;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P370P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=167;refseq.spliceDist_2=167;refseq.start_1=37987648;refseq.start_2=37987648;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 38019937 . G T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.100000;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.977G>T;refseq.codonCoord=326;refseq.end=38019937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1375;refseq.name=NM_001070;refseq.name2=TUBG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G326V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-20;refseq.start=38019937;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr17 38020072 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=6.29;MQ=54.61;MQ0=49;OQ=1526.25;QD=8.48;RankSumP=0.686878;SB=-189.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1029C>G;refseq.codonCoord=343;refseq.end=38020072;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1427;refseq.name=NM_001070;refseq.name2=TUBG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R343R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=33;refseq.start=38020072;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 38065445 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=62.64;MQ0=16;OQ=942.44;QD=3.54;RankSumP=0.464213;SB=150.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.117A>G;refseq.codonCoord=39;refseq.end=38065445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_016437;refseq.name2=TUBG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E39E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-46;refseq.start=38065445;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 38071977 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=668;Dels=0.00;HRun=0;HaplotypeScore=17.46;MQ=66.08;MQ0=317;OQ=7164.18;QD=10.72;RankSumP=0.364436;SB=-1420.43;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1107G>A;refseq.codonCoord=369;refseq.end=38071977;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_016437;refseq.name2=TUBG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S369S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-52;refseq.start=38071977;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr17 38072225 . A G 285.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=98.75;MQ0=0;OQ=3147.83;QD=15.21;RankSumP=0.276137;SB=-1411.15;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1237A>G;refseq.codonCoord=413;refseq.end=38072225;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1493;refseq.name=NM_016437;refseq.name2=TUBG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M413V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=79;refseq.start=38072225;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr17 38075834 . C A 39.69 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=87.94;MQ0=0;QD=5.67;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1641G>T;refseq.codonCoord=547;refseq.end=38075834;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2108;refseq.name=NM_024927;refseq.name2=PLEKHH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q547H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=87;refseq.start=38075834;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr17 38076204 . C T 122.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.80;MQ0=0;OQ=1066.51;QD=12.85;RankSumP=0.0102510;SB=-391.63;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1467G>A;refseq.codonCoord=489;refseq.end=38076204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1934;refseq.name=NM_024927;refseq.name2=PLEKHH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G489G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=46;refseq.start=38076204;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr17 38089448 . A C 207.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.09;MQ0=0;OQ=2318.12;QD=14.77;RankSumP=0.446749;SB=-803.64;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.151A>C;refseq.codonCoord=51;refseq.end=38089448;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_003632;refseq.name2=CNTNAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R51R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-19;refseq.start=38089448;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr17 38095159 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1723A>C;refseq.codonCoord=575;refseq.end=38095159;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1939;refseq.name=NM_003632;refseq.name2=CNTNAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T575P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=38095159;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 38166892 . C T 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=54.02;QD=27.01;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.87C>T;refseq.codonCoord=29;refseq.end=38166892;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_005854;refseq.name2=RAMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L29L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-11;refseq.start=38166892;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/1 chr17 38200766 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2801T>G;refseq.codonCoord=934;refseq.end=38200766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2869;refseq.name=NM_032387;refseq.name2=WNK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V934G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-161;refseq.start=38200766;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 38204104 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.43437e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.122C>G;refseq.codonCoord=41;refseq.end=38204104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_001040431;refseq.name2=CCDC56;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-93;refseq.start=38204104;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 38209803 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.280C>A;refseq.codonCoord=94;refseq.end=38209803;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_173478;refseq.name2=CNTD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q94K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=35;refseq.start=38209803;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr17 38251759 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1588+2;refseq.codingCoordStr_2=c.1588+2;refseq.end_1=38251759;refseq.end_2=38251759;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=AOC2;refseq.name2_2=AOC2;refseq.name_1=NM_001158;refseq.name_2=NM_009590;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=38251759;refseq.start_2=38251759;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr17 38257127 . C G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.512949;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.241C>G;refseq.codonCoord=81;refseq.end=38257127;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_003734;refseq.name2=AOC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=401;refseq.start=38257127;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr17 38257128 . C G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0118630;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.242C>G;refseq.codonCoord=81;refseq.end=38257128;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_003734;refseq.name2=AOC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P81R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=402;refseq.start=38257128;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chr17 38357374 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1594C>G;refseq.codingCoordStr_2=c.1411C>G;refseq.codonCoord_1=532;refseq.codonCoord_2=471;refseq.end_1=38357374;refseq.end_2=38357374;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1940;refseq.mrnaCoord_2=1556;refseq.name2_1=AARSD1;refseq.name2_2=AARSD1;refseq.name_1=NM_001136042;refseq.name_2=NM_025267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P532A;refseq.proteinCoordStr_2=p.P471A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=38357374;refseq.start_2=38357374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 0/1 chr17 38369760 . G A 315.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.82;MQ0=0;OQ=11016.47;QD=42.37;RankSumP=1.00000;SB=-3566.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.582C>T;refseq.codingCoordStr_2=c.399C>T;refseq.codonCoord_1=194;refseq.codonCoord_2=133;refseq.end_1=38369760;refseq.end_2=38369760;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=928;refseq.mrnaCoord_2=544;refseq.name2_1=AARSD1;refseq.name2_2=AARSD1;refseq.name_1=NM_001136042;refseq.name_2=NM_025267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S194S;refseq.proteinCoordStr_2=p.S133S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=38369760;refseq.start_2=38369760;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr17 38386597 . T C 89.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=95.57;MQ0=0;OQ=477.04;QD=23.85;RankSumP=1.00000;SB=-186.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.478T>C;refseq.codonCoord=160;refseq.end=38386597;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=490;refseq.name=NM_173079;refseq.name2=RUNDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W160R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-21;refseq.start=38386597;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 38419019 . A G 117.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=540.49;QD=33.78;RankSumP=1.00000;SB=-161.73;SecondBestBaseQ=0;refseq.chr=chr17;refseq.codingCoordStr=c.384-2;refseq.end=38419019;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_005533;refseq.name2=IFI35;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=38419019;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr17 38419404 . C T 412.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.71;MQ0=0;OQ=3121.62;QD=39.02;RankSumP=1.00000;SB=-951.74;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.654C>T;refseq.codonCoord=218;refseq.end=38419404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_005533;refseq.name2=IFI35;refseq.positionType=CDS;refseq.proteinCoordStr=p.N218N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-22;refseq.start=38419404;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr17 38423731 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.88787e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.614C>G;refseq.codonCoord=205;refseq.end=38423731;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_006373;refseq.name2=VAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A205G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=19;refseq.start=38423731;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr17 38424296 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.434A>G;refseq.codonCoord=145;refseq.end=38424296;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=554;refseq.name=NM_006373;refseq.name2=VAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E145G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=47;refseq.start=38424296;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr17 38427551 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=11.11;MQ=95.35;MQ0=0;OQ=601.87;QD=11.15;RankSumP=0.747991;SB=-268.87;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.315T>G;refseq.codonCoord=105;refseq.end=38427551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_006373;refseq.name2=VAT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P105P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-73;refseq.start=38427551;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr17 38451234 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=5;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_2=c.5579A>C;refseq.codingCoordStr_3=c.5438A>C;refseq.codingCoordStr_4=c.2267A>C;refseq.codingCoordStr_5=c.*93A>C;refseq.codingCoordStr_6=c.5642A>C;refseq.codonCoord_2=1860;refseq.codonCoord_3=1813;refseq.codonCoord_4=756;refseq.codonCoord_6=1881;refseq.end_1=38451234;refseq.end_2=38451234;refseq.end_3=38451234;refseq.end_4=38451234;refseq.end_5=38451234;refseq.end_6=38451234;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_6=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=5715;refseq.mrnaCoord_2=5811;refseq.mrnaCoord_3=5719;refseq.mrnaCoord_4=2286;refseq.mrnaCoord_5=2387;refseq.mrnaCoord_6=5874;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NR_027676;refseq.name_2=NM_007294;refseq.name_3=NM_007297;refseq.name_4=NM_007298;refseq.name_5=NM_007299;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.H1860P;refseq.proteinCoordStr_3=p.H1813P;refseq.proteinCoordStr_4=p.H756P;refseq.proteinCoordStr_6=p.H1881P;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_6=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.referenceCodon_6=CAC;refseq.spliceDist_1=112;refseq.spliceDist_2=112;refseq.spliceDist_3=112;refseq.spliceDist_4=112;refseq.spliceDist_5=112;refseq.spliceDist_6=112;refseq.start_1=38451234;refseq.start_2=38451234;refseq.start_3=38451234;refseq.start_4=38451234;refseq.start_5=38451234;refseq.start_6=38451234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_6=CCC;set=FilteredInAll GT 1/0 chr17 38476620 . T C 183.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=382;Dels=0.00;HRun=1;HaplotypeScore=6.72;MQ=98.74;MQ0=0;OQ=7587.75;QD=19.86;RankSumP=0.173460;SB=-2711.61;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_2=c.4837A>G;refseq.codingCoordStr_3=c.4696A>G;refseq.codingCoordStr_4=c.1525A>G;refseq.codingCoordStr_5=c.1525A>G;refseq.codingCoordStr_6=c.4900A>G;refseq.codonCoord_2=1613;refseq.codonCoord_3=1566;refseq.codonCoord_4=509;refseq.codonCoord_5=509;refseq.codonCoord_6=1634;refseq.end_1=38476620;refseq.end_2=38476620;refseq.end_3=38476620;refseq.end_4=38476620;refseq.end_5=38476620;refseq.end_6=38476620;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4973;refseq.mrnaCoord_2=5069;refseq.mrnaCoord_3=4977;refseq.mrnaCoord_4=1544;refseq.mrnaCoord_5=1719;refseq.mrnaCoord_6=5132;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NR_027676;refseq.name_2=NM_007294;refseq.name_3=NM_007297;refseq.name_4=NM_007298;refseq.name_5=NM_007299;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.S1613G;refseq.proteinCoordStr_3=p.S1566G;refseq.proteinCoordStr_4=p.S509G;refseq.proteinCoordStr_5=p.S509G;refseq.proteinCoordStr_6=p.S1634G;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.referenceCodon_5=AGT;refseq.referenceCodon_6=AGT;refseq.spliceDist_1=-150;refseq.spliceDist_2=-150;refseq.spliceDist_3=-150;refseq.spliceDist_4=-150;refseq.spliceDist_5=-150;refseq.spliceDist_6=-150;refseq.start_1=38476620;refseq.start_2=38476620;refseq.start_3=38476620;refseq.start_4=38476620;refseq.start_5=38476620;refseq.start_6=38476620;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;set=Intersection GT 1/0 chr17 38487996 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=756;Dels=0.00;HRun=1;HaplotypeScore=11.90;MQ=98.88;MQ0=0;OQ=14243.85;QD=18.84;RankSumP=0.0491179;SB=-5544.07;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_2=c.4308T>C;refseq.codingCoordStr_3=c.4167T>C;refseq.codingCoordStr_4=c.999T>C;refseq.codingCoordStr_5=c.999T>C;refseq.codingCoordStr_6=c.4308T>C;refseq.codonCoord_2=1436;refseq.codonCoord_3=1389;refseq.codonCoord_4=333;refseq.codonCoord_5=333;refseq.codonCoord_6=1436;refseq.end_1=38487996;refseq.end_2=38487996;refseq.end_3=38487996;refseq.end_4=38487996;refseq.end_5=38487996;refseq.end_6=38487996;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=4444;refseq.mrnaCoord_2=4540;refseq.mrnaCoord_3=4448;refseq.mrnaCoord_4=1018;refseq.mrnaCoord_5=1193;refseq.mrnaCoord_6=4540;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NR_027676;refseq.name_2=NM_007294;refseq.name_3=NM_007297;refseq.name_4=NM_007298;refseq.name_5=NM_007299;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.S1436S;refseq.proteinCoordStr_3=p.S1389S;refseq.proteinCoordStr_4=p.S333S;refseq.proteinCoordStr_5=p.S333S;refseq.proteinCoordStr_6=p.S1436S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.referenceCodon_4=TCT;refseq.referenceCodon_5=TCT;refseq.referenceCodon_6=TCT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.spliceDist_3=-50;refseq.spliceDist_4=-50;refseq.spliceDist_5=-50;refseq.spliceDist_6=-50;refseq.start_1=38487996;refseq.start_2=38487996;refseq.start_3=38487996;refseq.start_4=38487996;refseq.start_5=38487996;refseq.start_6=38487996;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;refseq.variantCodon_4=TCC;refseq.variantCodon_5=TCC;refseq.variantCodon_6=TCC;set=Intersection GT 0/1 chr17 38497526 . T C 100.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1179.05;QD=14.04;RankSumP=0.398693;SB=-136.69;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_4=c.3548A>G;refseq.codingCoordStr_5=c.3407A>G;refseq.codingCoordStr_6=c.3548A>G;refseq.codonCoord_4=1183;refseq.codonCoord_5=1136;refseq.codonCoord_6=1183;refseq.end_1=38500276;refseq.end_2=38500276;refseq.end_3=38497526;refseq.end_4=38497526;refseq.end_5=38497526;refseq.end_6=38497526;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=3684;refseq.mrnaCoord_4=3780;refseq.mrnaCoord_5=3688;refseq.mrnaCoord_6=3780;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NM_007298;refseq.name_2=NM_007299;refseq.name_3=NR_027676;refseq.name_4=NM_007294;refseq.name_5=NM_007297;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.K1183R;refseq.proteinCoordStr_5=p.K1136R;refseq.proteinCoordStr_6=p.K1183R;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.referenceCodon_6=AAA;refseq.spliceDist_3=-549;refseq.spliceDist_4=-549;refseq.spliceDist_5=-549;refseq.spliceDist_6=-549;refseq.start_1=38496586;refseq.start_2=38496586;refseq.start_3=38497526;refseq.start_4=38497526;refseq.start_5=38497526;refseq.start_6=38497526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_4=AGA;refseq.variantCodon_5=AGA;refseq.variantCodon_6=AGA;set=Intersection GT 1/0 chr17 38497961 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=409;Dels=0.00;HRun=1;HaplotypeScore=29.21;MQ=98.88;MQ0=0;OQ=8459.74;QD=20.68;RankSumP=0.416598;SB=-3625.44;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_4=c.3113A>G;refseq.codingCoordStr_5=c.2972A>G;refseq.codingCoordStr_6=c.3113A>G;refseq.codonCoord_4=1038;refseq.codonCoord_5=991;refseq.codonCoord_6=1038;refseq.end_1=38500276;refseq.end_2=38500276;refseq.end_3=38497961;refseq.end_4=38497961;refseq.end_5=38497961;refseq.end_6=38497961;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=3249;refseq.mrnaCoord_4=3345;refseq.mrnaCoord_5=3253;refseq.mrnaCoord_6=3345;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NM_007298;refseq.name_2=NM_007299;refseq.name_3=NR_027676;refseq.name_4=NM_007294;refseq.name_5=NM_007297;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.E1038G;refseq.proteinCoordStr_5=p.E991G;refseq.proteinCoordStr_6=p.E1038G;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceCodon_4=GAA;refseq.referenceCodon_5=GAA;refseq.referenceCodon_6=GAA;refseq.spliceDist_3=-984;refseq.spliceDist_4=-984;refseq.spliceDist_5=-984;refseq.spliceDist_6=-984;refseq.start_1=38496586;refseq.start_2=38496586;refseq.start_3=38497961;refseq.start_4=38497961;refseq.start_5=38497961;refseq.start_6=38497961;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;refseq.variantCodon_6=GGA;set=Intersection GT 1/0 chr17 38498462 . G A 130.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=460;Dels=0.00;HRun=0;HaplotypeScore=19.28;MQ=98.66;MQ0=0;OQ=10101.59;QD=21.96;RankSumP=0.0746576;SB=-4025.17;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_4=c.2612C>T;refseq.codingCoordStr_5=c.2471C>T;refseq.codingCoordStr_6=c.2612C>T;refseq.codonCoord_4=871;refseq.codonCoord_5=824;refseq.codonCoord_6=871;refseq.end_1=38500276;refseq.end_2=38500276;refseq.end_3=38498462;refseq.end_4=38498462;refseq.end_5=38498462;refseq.end_6=38498462;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=2748;refseq.mrnaCoord_4=2844;refseq.mrnaCoord_5=2752;refseq.mrnaCoord_6=2844;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NM_007298;refseq.name_2=NM_007299;refseq.name_3=NR_027676;refseq.name_4=NM_007294;refseq.name_5=NM_007297;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.P871L;refseq.proteinCoordStr_5=p.P824L;refseq.proteinCoordStr_6=p.P871L;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.referenceCodon_6=CCG;refseq.spliceDist_3=-1485;refseq.spliceDist_4=-1485;refseq.spliceDist_5=-1485;refseq.spliceDist_6=-1485;refseq.start_1=38496586;refseq.start_2=38496586;refseq.start_3=38498462;refseq.start_4=38498462;refseq.start_5=38498462;refseq.start_6=38498462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;set=Intersection GT 1/0 chr17 38498763 . A G 221.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=696;Dels=0.00;HRun=0;HaplotypeScore=9.10;MQ=98.75;MQ0=0;OQ=13919.16;QD=20.00;RankSumP=0.366586;SB=-4060.67;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_4=c.2311T>C;refseq.codingCoordStr_5=c.2170T>C;refseq.codingCoordStr_6=c.2311T>C;refseq.codonCoord_4=771;refseq.codonCoord_5=724;refseq.codonCoord_6=771;refseq.end_1=38500276;refseq.end_2=38500276;refseq.end_3=38498763;refseq.end_4=38498763;refseq.end_5=38498763;refseq.end_6=38498763;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=2447;refseq.mrnaCoord_4=2543;refseq.mrnaCoord_5=2451;refseq.mrnaCoord_6=2543;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NM_007298;refseq.name_2=NM_007299;refseq.name_3=NR_027676;refseq.name_4=NM_007294;refseq.name_5=NM_007297;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.L771L;refseq.proteinCoordStr_5=p.L724L;refseq.proteinCoordStr_6=p.L771L;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.referenceCodon_6=TTG;refseq.spliceDist_3=1641;refseq.spliceDist_4=1641;refseq.spliceDist_5=1641;refseq.spliceDist_6=1641;refseq.start_1=38496586;refseq.start_2=38496586;refseq.start_3=38498763;refseq.start_4=38498763;refseq.start_5=38498763;refseq.start_6=38498763;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;refseq.variantCodon_6=CTG;set=Intersection GT 0/1 chr17 38498992 . G A 272.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.81;MQ0=0;OQ=4700.83;QD=22.17;RankSumP=0.361265;SB=-1483.55;SecondBestBaseQ=33;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_4=c.2082C>T;refseq.codingCoordStr_5=c.1941C>T;refseq.codingCoordStr_6=c.2082C>T;refseq.codonCoord_4=694;refseq.codonCoord_5=647;refseq.codonCoord_6=694;refseq.end_1=38500276;refseq.end_2=38500276;refseq.end_3=38498992;refseq.end_4=38498992;refseq.end_5=38498992;refseq.end_6=38498992;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_3=2218;refseq.mrnaCoord_4=2314;refseq.mrnaCoord_5=2222;refseq.mrnaCoord_6=2314;refseq.name2_1=BRCA1;refseq.name2_2=BRCA1;refseq.name2_3=BRCA1;refseq.name2_4=BRCA1;refseq.name2_5=BRCA1;refseq.name2_6=BRCA1;refseq.name_1=NM_007298;refseq.name_2=NM_007299;refseq.name_3=NR_027676;refseq.name_4=NM_007294;refseq.name_5=NM_007297;refseq.name_6=NM_007300;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.S694S;refseq.proteinCoordStr_5=p.S647S;refseq.proteinCoordStr_6=p.S694S;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.spliceDist_3=1412;refseq.spliceDist_4=1412;refseq.spliceDist_5=1412;refseq.spliceDist_6=1412;refseq.start_1=38496586;refseq.start_2=38496586;refseq.start_3=38498992;refseq.start_4=38498992;refseq.start_5=38498992;refseq.start_6=38498992;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;set=Intersection GT 1/0 chr17 39234600 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.86;MQ0=0;OQ=2330.69;QD=16.53;RankSumP=0.475074;SB=-736.76;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1753A>G;refseq.codonCoord_2=585;refseq.end_1=39234600;refseq.end_2=39234600;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1898;refseq.mrnaCoord_2=1919;refseq.name2_1=MPP3;refseq.name2_2=MPP3;refseq.name_1=NR_003562;refseq.name_2=NM_001932;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R585G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=172;refseq.spliceDist_2=172;refseq.start_1=39234600;refseq.start_2=39234600;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr17 39246963 . G A 279.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=99.00;MQ0=0;OQ=1866.42;QD=18.12;RankSumP=0.407100;SB=-598.39;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1197C>T;refseq.codonCoord_2=399;refseq.end_1=39246963;refseq.end_2=39246963;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1342;refseq.mrnaCoord_2=1363;refseq.name2_1=MPP3;refseq.name2_2=MPP3;refseq.name_1=NR_003562;refseq.name_2=NM_001932;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H399H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=39246963;refseq.start_2=39246963;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr17 39281652 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=150;Dels=0.00;HRun=0;HaplotypeScore=11.16;MQ=98.57;MQ0=0;OQ=2117.64;QD=14.12;RankSumP=0.164671;SB=-997.38;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.244C>T;refseq.codingCoordStr_2=c.244C>T;refseq.codingCoordStr_3=c.244C>T;refseq.codingCoordStr_4=c.244C>T;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.codonCoord_3=82;refseq.codonCoord_4=82;refseq.end_1=39281652;refseq.end_2=39281652;refseq.end_3=39281652;refseq.end_4=39281652;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=313;refseq.mrnaCoord_2=313;refseq.mrnaCoord_3=313;refseq.mrnaCoord_4=313;refseq.name2_1=CD300LG;refseq.name2_2=CD300LG;refseq.name2_3=CD300LG;refseq.name2_4=CD300LG;refseq.name_1=NM_001168322;refseq.name_2=NM_001168323;refseq.name_3=NM_001168324;refseq.name_4=NM_145273;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R82C;refseq.proteinCoordStr_2=p.R82C;refseq.proteinCoordStr_3=p.R82C;refseq.proteinCoordStr_4=p.R82C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=-136;refseq.spliceDist_2=-136;refseq.spliceDist_3=-136;refseq.spliceDist_4=-136;refseq.start_1=39281652;refseq.start_2=39281652;refseq.start_3=39281652;refseq.start_4=39281652;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=Intersection GT 0/1 chr17 39315334 . T C 198.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=11.17;MQ=98.35;MQ0=0;OQ=9873.87;QD=33.70;RankSumP=1.00000;SB=-4061.25;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=39315334;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=830;refseq.name=NM_005374;refseq.name2=MPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q175Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=72;refseq.start=39315334;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 39315869 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=14.23;MQ=97.84;MQ0=0;OQ=3061.22;QD=26.85;RankSumP=1.00000;SB=-187.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.381A>G;refseq.codonCoord=127;refseq.end=39315869;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=686;refseq.name=NM_005374;refseq.name2=MPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T127T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-73;refseq.start=39315869;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 39316159 . C G 67.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.06;MQ0=0;OQ=1842.75;QD=27.10;RankSumP=1.00000;SB=-720.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.241G>C;refseq.codonCoord=81;refseq.end=39316159;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_005374;refseq.name2=MPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V81L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-63;refseq.start=39316159;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr17 39316160 . G C 87.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=98.06;MQ0=0;OQ=1855.14;QD=27.28;RankSumP=1.00000;SB=-812.78;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.240C>G;refseq.codonCoord=80;refseq.end=39316160;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_005374;refseq.name2=MPP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H80Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-64;refseq.start=39316160;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 39386057 . G C 147.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=223;Dels=0.00;HRun=1;HaplotypeScore=7.27;MQ=98.20;MQ0=0;OQ=9706.79;QD=43.53;RankSumP=1.00000;SB=-1735.73;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.215C>G;refseq.codonCoord=72;refseq.end=39386057;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=756;refseq.name=NM_004160;refseq.name2=PYY;refseq.positionType=CDS;refseq.proteinCoordStr=p.T72R;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=27;refseq.start=39386057;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr17 39386269 . G C 78.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=7.14;MQ=97.90;MQ0=0;OQ=1412.95;QD=25.23;RankSumP=1.00000;SB=-642.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.109C>G;refseq.codonCoord=37;refseq.end=39386269;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_004160;refseq.name2=PYY;refseq.positionType=CDS;refseq.proteinCoordStr=p.R37G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-80;refseq.start=39386269;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr17 39511268 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=508.60;QD=21.19;RankSumP=0.214071;SB=-119.97;SecondBestBaseQ=25;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.*2G>A;refseq.codingCoordStr_2=c.*2G>A;refseq.end_1=39511268;refseq.end_2=39511268;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=3706;refseq.mrnaCoord_2=3703;refseq.name2_1=HDAC5;refseq.name2_2=HDAC5;refseq.name_1=NM_001015053;refseq.name_2=NM_005474;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=39511268;refseq.start_2=39511268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chr17 39520411 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=671.82;QD=20.36;RankSumP=0.307782;SB=-309.17;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1782C>G;refseq.codingCoordStr_2=c.1779C>G;refseq.codonCoord_1=594;refseq.codonCoord_2=593;refseq.end_1=39520411;refseq.end_2=39520411;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2114;refseq.mrnaCoord_2=2111;refseq.name2_1=HDAC5;refseq.name2_2=HDAC5;refseq.name_1=NM_001015053;refseq.name_2=NM_005474;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D594E;refseq.proteinCoordStr_2=p.D593E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.start_1=39520411;refseq.start_2=39520411;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr17 39524321 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1233T>G;refseq.codingCoordStr_2=c.1230T>G;refseq.codonCoord_1=411;refseq.codonCoord_2=410;refseq.end_1=39524321;refseq.end_2=39524321;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1565;refseq.mrnaCoord_2=1562;refseq.name2_1=HDAC5;refseq.name2_2=HDAC5;refseq.name_1=NM_001015053;refseq.name_2=NM_005474;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G411G;refseq.proteinCoordStr_2=p.G410G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=39524321;refseq.start_2=39524321;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 39581073 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.91;MQ0=0;OQ=2829.02;QD=12.92;RankSumP=0.498358;SB=-748.96;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.376A>C;refseq.codingCoordStr_2=c.376A>C;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=39581073;refseq.end_2=39581073;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=613;refseq.mrnaCoord_2=613;refseq.name2_1=C17orf53;refseq.name2_2=C17orf53;refseq.name_1=NM_001171251;refseq.name_2=NM_024032;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T126P;refseq.proteinCoordStr_2=p.T126P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=322;refseq.spliceDist_2=322;refseq.start_1=39581073;refseq.start_2=39581073;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr17 39603872 . A T 351.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.60;MQ0=0;OQ=4451.48;QD=35.90;RankSumP=1.00000;SB=-762.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.189A>T;refseq.codonCoord=63;refseq.end=39603872;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_080863;refseq.name2=ASB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q63H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-113;refseq.start=39603872;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr17 39609807 . A G 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.67;MQ0=0;OQ=310.69;QD=17.26;RankSumP=0.164189;SB=-111.84;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.745A>G;refseq.codingCoordStr_2=c.340T>C;refseq.codonCoord_1=249;refseq.codonCoord_2=114;refseq.end_1=39609807;refseq.end_2=39609807;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=1316;refseq.name2_1=ASB16;refseq.name2_2=C17orf65;refseq.name_1=NM_080863;refseq.name_2=NM_178542;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T249A;refseq.proteinCoordStr_2=p.C114R;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=176;refseq.spliceDist_2=904;refseq.start_1=39609807;refseq.start_2=39609807;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Arg;refseq.variantCodon_1=GCG;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr17 39622003 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.123T>G;refseq.codingCoordStr_2=c.63T>G;refseq.codingCoordStr_3=c.63T>G;refseq.codonCoord_1=41;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=39622003;refseq.end_2=39622003;refseq.end_3=39622003;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=280;refseq.mrnaCoord_2=212;refseq.mrnaCoord_3=713;refseq.name2_1=TMUB2;refseq.name2_2=TMUB2;refseq.name2_3=TMUB2;refseq.name_1=NM_001076674;refseq.name_2=NM_024107;refseq.name_3=NM_177441;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G41G;refseq.proteinCoordStr_2=p.G21G;refseq.proteinCoordStr_3=p.G21G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=175;refseq.start_1=39622003;refseq.start_2=39622003;refseq.start_3=39622003;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 39623686 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.894A>C;refseq.codingCoordStr_2=c.834A>C;refseq.codingCoordStr_3=c.834A>C;refseq.codonCoord_1=298;refseq.codonCoord_2=278;refseq.codonCoord_3=278;refseq.end_1=39623686;refseq.end_2=39623686;refseq.end_3=39623686;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1051;refseq.mrnaCoord_2=983;refseq.mrnaCoord_3=1484;refseq.name2_1=TMUB2;refseq.name2_2=TMUB2;refseq.name2_3=TMUB2;refseq.name_1=NM_001076674;refseq.name_2=NM_024107;refseq.name_3=NM_177441;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A298A;refseq.proteinCoordStr_2=p.A278A;refseq.proteinCoordStr_3=p.A278A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=292;refseq.spliceDist_2=292;refseq.spliceDist_3=292;refseq.start_1=39623686;refseq.start_2=39623686;refseq.start_3=39623686;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr17 39642382 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1658A>C;refseq.codingCoordStr_2=c.1658A>C;refseq.codingCoordStr_3=c.1769A>C;refseq.codonCoord_1=553;refseq.codonCoord_2=553;refseq.codonCoord_3=590;refseq.end_1=39642382;refseq.end_2=39642382;refseq.end_3=39642382;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1868;refseq.mrnaCoord_2=1837;refseq.mrnaCoord_3=1836;refseq.name2_1=UBTF;refseq.name2_2=UBTF;refseq.name2_3=UBTF;refseq.name_1=NM_001076683;refseq.name_2=NM_001076684;refseq.name_3=NM_014233;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H553P;refseq.proteinCoordStr_2=p.H553P;refseq.proteinCoordStr_3=p.H590P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=39642382;refseq.start_2=39642382;refseq.start_3=39642382;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr17 39643045 . C T 11.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=625;Dels=0.00;HRun=2;HaplotypeScore=33.21;MQ=98.68;MQ0=0;OQ=11097.66;QD=17.76;RankSumP=0.00000;SB=-4231.46;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1488G>A;refseq.codingCoordStr_2=c.1488G>A;refseq.codingCoordStr_3=c.1599G>A;refseq.codonCoord_1=496;refseq.codonCoord_2=496;refseq.codonCoord_3=533;refseq.end_1=39643045;refseq.end_2=39643045;refseq.end_3=39643045;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1698;refseq.mrnaCoord_2=1667;refseq.mrnaCoord_3=1666;refseq.name2_1=UBTF;refseq.name2_2=UBTF;refseq.name2_3=UBTF;refseq.name_1=NM_001076683;refseq.name_2=NM_001076684;refseq.name_3=NM_014233;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K496K;refseq.proteinCoordStr_2=p.K496K;refseq.proteinCoordStr_3=p.K533K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=39643045;refseq.start_2=39643045;refseq.start_3=39643045;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=filterInsoap-gatk GT 0/1 chr17 39683376 . G A 240.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.74;MQ0=0;OQ=4535.26;QD=17.58;RankSumP=0.280150;SB=-1774.92;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2712C>T;refseq.codonCoord=904;refseq.end=39683376;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2861;refseq.name=NM_000342;refseq.name2=SLC4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y904Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=57;refseq.start=39683376;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr17 39691512 . G T 22.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;QD=2.49;RankSumP=0.571429;SB=-28.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.882C>A;refseq.codonCoord=294;refseq.end=39691512;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1031;refseq.name=NM_000342;refseq.name2=SLC4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F294L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=39691512;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr17 39753531 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.786T>G;refseq.codingCoordStr_2=c.762T>G;refseq.codonCoord_1=262;refseq.codonCoord_2=254;refseq.end_1=39753531;refseq.end_2=39753531;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=940;refseq.mrnaCoord_2=916;refseq.name2_1=SLC25A39;refseq.name2_2=SLC25A39;refseq.name_1=NM_001143780;refseq.name_2=NM_016016;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G262G;refseq.proteinCoordStr_2=p.G254G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=39753531;refseq.start_2=39753531;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 39783679 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.693C>G;refseq.codonCoord=231;refseq.end=39783679;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_002087;refseq.name2=GRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.C231W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-16;refseq.start=39783679;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr17 39805315 . G A 284.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=98.17;MQ0=0;OQ=2926.41;QD=41.22;RankSumP=1.00000;SB=-946.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3063C>T;refseq.codonCoord=1021;refseq.end=39805315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3095;refseq.name=NM_000419;refseq.name2=ITGA2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1021V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=39805315;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr17 39808591 . A C 228.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.83;MQ0=0;OQ=573.36;QD=33.73;RankSumP=1.00000;SB=-81.14;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2621T>G;refseq.codonCoord=874;refseq.end=39808591;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2653;refseq.name=NM_000419;refseq.name2=ITGA2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.I874S;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=20;refseq.start=39808591;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr17 39831488 . A C 117.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.64;MQ0=0;OQ=1763.45;QD=14.82;RankSumP=0.00220549;SB=-655.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3483T>G;refseq.codonCoord=1161;refseq.end=39831488;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3547;refseq.name=NM_001002909;refseq.name2=GPATCH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1161W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=2860;refseq.start=39831488;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=filterInsoap-gatk GT 0/1 chr17 39907738 . G T 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=119;Dels=0.00;HRun=2;HaplotypeScore=8.62;MQ=98.35;MQ0=0;OQ=126.44;QD=1.06;RankSumP=0.00000;SB=170.60;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.105C>A;refseq.codonCoord=35;refseq.end=39907738;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_001002909;refseq.name2=GPATCH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D35E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=39907738;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr17 40207255 . C T 156.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=174.42;QD=34.88;RankSumP=1.00000;SB=-91.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1059C>T;refseq.codonCoord=353;refseq.end=40207255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1059;refseq.name=NM_002390;refseq.name2=ADAM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.H353H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-19;refseq.start=40207255;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=filterInsoap-gatk GT 1/1 chr17 40208130 . G T 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=98.47;MQ0=0;OQ=2599.49;QD=32.49;RankSumP=1.00000;SB=-734.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1245G>T;refseq.codonCoord=415;refseq.end=40208130;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_002390;refseq.name2=ADAM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S415S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=25;refseq.start=40208130;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr17 40208136 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=98.33;MQ0=0;OQ=2628.99;QD=32.46;RankSumP=1.00000;SB=-954.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1251T>C;refseq.codonCoord=417;refseq.end=40208136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1251;refseq.name=NM_002390;refseq.name2=ADAM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.C417C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=31;refseq.start=40208136;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr17 40210136 . T C 164.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=98.47;MQ0=0;OQ=2376.06;QD=33.00;RankSumP=1.00000;SB=-1122.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1758T>C;refseq.codonCoord=586;refseq.end=40210136;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1758;refseq.name=NM_002390;refseq.name2=ADAM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S586S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-24;refseq.start=40210136;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 40211080 . T C 364.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.35;MQ0=0;OQ=2999.58;QD=35.29;RankSumP=1.00000;SB=-975.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2220T>C;refseq.codonCoord=740;refseq.end=40211080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2220;refseq.name=NM_002390;refseq.name2=ADAM11;refseq.positionType=CDS;refseq.proteinCoordStr=p.I740I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=35;refseq.start=40211080;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 40282250 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.203C>G;refseq.codonCoord=68;refseq.end=40282250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_016438;refseq.name2=HIGD1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A68G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-33;refseq.start=40282250;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 40532330 . C T 204.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=354;Dels=0.00;HRun=1;HaplotypeScore=7.04;MQ=98.89;MQ0=0;OQ=6823.14;QD=19.27;RankSumP=0.203260;SB=-2541.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.916C>T;refseq.codonCoord=306;refseq.end=40532330;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_021079;refseq.name2=NMT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L306L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=32;refseq.start=40532330;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 40582997 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.36;MQ0=0;OQ=403.01;QD=12.59;RankSumP=0.517014;SB=-83.89;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.657T>C;refseq.codonCoord=219;refseq.end=40582997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2531;refseq.name=NM_006460;refseq.name2=HEXIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D219D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-2255;refseq.start=40582997;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr17 40674561 . G C 8 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=4;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=145.99;QD=36.50;RankSumP=1.00000;SB=-55.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1362G>C;refseq.codonCoord=454;refseq.end=40674561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1562;refseq.name=NM_005892;refseq.name2=FMNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G454G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=30;refseq.start=40674561;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/1 chr17 40674562 . C G 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=3;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=105.44;QD=35.15;RankSumP=1.00000;SB=-58.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1363C>G;refseq.codonCoord=455;refseq.end=40674562;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1563;refseq.name=NM_005892;refseq.name2=FMNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P455A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=31;refseq.start=40674562;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr17 40675553 . C T 189.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=99.00;MQ0=0;OQ=1779.15;QD=16.63;RankSumP=0.162867;SB=-722.15;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1948C>T;refseq.codonCoord=650;refseq.end=40675553;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2148;refseq.name=NM_005892;refseq.name2=FMNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L650L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-63;refseq.start=40675553;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 40688902 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.430G>C;refseq.codonCoord_2=144;refseq.end_1=40700252;refseq.end_2=40688902;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=526;refseq.name2_1=LOC100133991;refseq.name2_2=C17orf46;refseq.name_1=NR_024434;refseq.name_2=NM_152343;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A144P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=322;refseq.start_1=40681164;refseq.start_2=40688902;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 40862791 . G C 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=985.17;QD=44.78;RankSumP=1.00000;SB=-286.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.638C>G;refseq.codonCoord=213;refseq.end=40862791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1087;refseq.name=NM_174919;refseq.name2=SH3D20;refseq.positionType=CDS;refseq.proteinCoordStr=p.P213R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-290;refseq.start=40862791;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 40886977 . G A 25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.2024C>T;refseq.codonCoord_3=675;refseq.end_1=40886977;refseq.end_2=40886977;refseq.end_3=40886977;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1946;refseq.mrnaCoord_2=1809;refseq.mrnaCoord_3=2194;refseq.name2_1=PLEKHM1;refseq.name2_2=PLEKHM1;refseq.name2_3=PLEKHM1;refseq.name_1=NR_027774;refseq.name_2=NR_027782;refseq.name_3=NM_014798;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S675L;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=445;refseq.spliceDist_2=445;refseq.spliceDist_3=445;refseq.start_1=40886977;refseq.start_2=40886977;refseq.start_3=40886977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=soap GT 1/0 chr17 40908740 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.432C>G;refseq.codonCoord_3=144;refseq.end_1=40908740;refseq.end_2=40908740;refseq.end_3=40908740;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=354;refseq.mrnaCoord_2=602;refseq.mrnaCoord_3=602;refseq.name2_1=PLEKHM1;refseq.name2_2=PLEKHM1;refseq.name2_3=PLEKHM1;refseq.name_1=NR_027774;refseq.name_2=NR_027782;refseq.name_3=NM_014798;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R144R;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.spliceDist_3=136;refseq.start_1=40908740;refseq.start_2=40908740;refseq.start_3=40908740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGG;set=FilteredInAll GT 0/1 chr17 41263719 . T G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=4;RankSumP=0.000997924;SecondBestBaseQ=10;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.796+2;refseq.codingCoordStr_2=c.589+2;refseq.codingCoordStr_3=c.709+2;refseq.codingCoordStr_4=c.709+2;refseq.end_1=41263719;refseq.end_2=41263719;refseq.end_3=41263719;refseq.end_4=41263719;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=CRHR1;refseq.name2_2=CRHR1;refseq.name2_3=CRHR1;refseq.name2_4=CRHR1;refseq.name_1=NM_001145146;refseq.name_2=NM_001145147;refseq.name_3=NM_001145148;refseq.name_4=NM_004382;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=41263719;refseq.start_2=41263719;refseq.start_3=41263719;refseq.start_4=41263719;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=FilteredInAll GT 1/0 chr17 41423219 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1732.80;QD=12.56;RankSumP=0.0466708;SB=-404.30;SecondBestBaseQ=33;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_5=c.1321C>T;refseq.codingCoordStr_6=c.1321C>T;refseq.codonCoord_5=441;refseq.codonCoord_6=441;refseq.end_1=41424652;refseq.end_2=41424652;refseq.end_3=41424652;refseq.end_4=41424652;refseq.end_5=41423219;refseq.end_6=41423219;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=1641;refseq.mrnaCoord_6=1641;refseq.name2_1=MAPT;refseq.name2_2=MAPT;refseq.name2_3=MAPT;refseq.name2_4=MAPT;refseq.name2_5=MAPT;refseq.name2_6=MAPT;refseq.name_1=NM_001123067;refseq.name_2=NM_005910;refseq.name_3=NM_016834;refseq.name_4=NM_016841;refseq.name_5=NM_001123066;refseq.name_6=NM_016835;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_5=p.H441Y;refseq.proteinCoordStr_6=p.H441Y;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceCodon_5=CAC;refseq.referenceCodon_6=CAC;refseq.spliceDist_5=-60;refseq.spliceDist_6=-60;refseq.start_1=41420309;refseq.start_2=41420309;refseq.start_3=41420309;refseq.start_4=41420309;refseq.start_5=41423219;refseq.start_6=41423219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantCodon_5=TAC;refseq.variantCodon_6=TAC;set=Intersection GT 0/1 chr17 41465321 . G A 315 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=98.79;MQ0=0;OQ=4835.81;QD=19.04;RankSumP=0.111738;SB=-1824.26;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3029C>T;refseq.codonCoord=1010;refseq.end=41465321;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3114;refseq.name=NM_015443;refseq.name2=KIAA1267;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1010L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-62;refseq.start=41465321;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr17 41472921 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2197A>C;refseq.codonCoord=733;refseq.end=41472921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2282;refseq.name=NM_015443;refseq.name2=KIAA1267;refseq.positionType=CDS;refseq.proteinCoordStr=p.T733P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=41472921;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr17 41728776 rs2461355 C T 0.12 PASS AC=2;AF=1.00;AN=2;DB;DP=618;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=2.61;MQ0=611;OQ=204.95;QD=0.33;SB=-130.01;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.500C>T;refseq.codonCoord=167;refseq.end=41728776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_014834;refseq.name2=LRRC37A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T167I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=503;refseq.start=41728776;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=gatk GT:AD:DP:GL:GQ 1/1:1,615:6:-24.07,-1.81,-0.00:18.06 chr17 41730487 . A G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=1037;Dels=0.00;HRun=0;HaplotypeScore=28.77;MQ=6.39;MQ0=958;OQ=1567.43;QD=1.51;RankSumP=1.00000;SB=-589.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2211A>G;refseq.codonCoord=737;refseq.end=41730487;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2214;refseq.name=NM_014834;refseq.name2=LRRC37A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P737P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-399;refseq.start=41730487;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr17 41764360 . C G 18.15 LowQual AC=1;AF=0.50;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=13.69;MQ0=1;QD=6.05;SB=-10.00;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.3956C>G;refseq.codonCoord_2=1319;refseq.end_1=41785931;refseq.end_2=41764360;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3959;refseq.name2_1=ARL17B;refseq.name2_2=LRRC37A;refseq.name_1=NM_001103154;refseq.name_2=NM_014834;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T1319S;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-749;refseq.start_1=41732819;refseq.start_2=41764360;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,1:1:-5.09,-0.30,-0.00:1.76 chr17 41764556 . G A 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4152G>A;refseq.codonCoord_2=1384;refseq.end_1=41785931;refseq.end_2=41764556;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4155;refseq.name2_1=ARL17B;refseq.name2_2=LRRC37A;refseq.name_1=NM_001103154;refseq.name_2=NM_014834;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E1384E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=-553;refseq.start_1=41732819;refseq.start_2=41764556;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/1 chr17 41768675 . A G 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4812A>G;refseq.codonCoord_2=1604;refseq.end_1=41785931;refseq.end_2=41768675;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4815;refseq.name2_1=ARL17B;refseq.name2_2=LRRC37A;refseq.name_1=NM_001103154;refseq.name_2=NM_014834;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I1604M;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_2=3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=41732819;refseq.start_2=41768675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/1 chr17 41945894 rs62073179 C T 47.02 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=16.78;MQ=1.68;MQ0=442;QD=0.11;SB=-10.00;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.500C>T;refseq.codonCoord=167;refseq.end=41945894;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_001006607;refseq.name2=LRRC37A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T167I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=503;refseq.start=41945894;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:8,435:2:-8.11,-0.60,-0.00:6.02 chr17 41950068 . T A 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.2634T>A;refseq.codonCoord_2=878;refseq.end_1=42003430;refseq.end_2=41950068;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2637;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S878S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=25;refseq.start_1=41949926;refseq.start_2=41950068;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=FilteredInAll GT 1/1 chr17 41981836 . G T 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.600000;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4015G>T;refseq.codonCoord_2=1339;refseq.end_1=42003430;refseq.end_2=41981836;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4018;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A1339S;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-690;refseq.start_1=41949926;refseq.start_2=41981836;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=soap GT 0/1 chr17 41981850 . A G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.700000;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4029A>G;refseq.codonCoord_2=1343;refseq.end_1=42003430;refseq.end_2=41981850;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4032;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P1343P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=-676;refseq.start_1=41949926;refseq.start_2=41981850;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=soap GT 0/1 chr17 41981931 . C T 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.582285;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4110C>T;refseq.codonCoord_2=1370;refseq.end_1=42003430;refseq.end_2=41981931;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4113;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N1370N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-595;refseq.start_1=41949926;refseq.start_2=41981931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=soap GT 0/1 chr17 41981976 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.71;MQ0=71;OQ=6126.92;QD=30.33;RankSumP=0.173500;SB=-2678.11;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4155C>G;refseq.codonCoord_2=1385;refseq.end_1=42003430;refseq.end_2=41981976;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4158;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N1385K;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=-550;refseq.start_1=41949926;refseq.start_2=41981976;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr17 41981989 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.365220;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4168C>G;refseq.codonCoord_2=1390;refseq.end_1=42003430;refseq.end_2=41981989;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4171;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H1390D;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-537;refseq.start_1=41949926;refseq.start_2=41981989;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=soap GT 1/0 chr17 41982023 . A T 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.128571;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.4202A>T;refseq.codonCoord_2=1401;refseq.end_1=42003430;refseq.end_2=41982023;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4205;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D1401V;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-503;refseq.start_1=41949926;refseq.start_2=41982023;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=soap GT 0/1 chr17 41986084 . A G 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.4812A>G;refseq.codingCoordStr_3=c.*3954T>C;refseq.codonCoord_2=1604;refseq.end_1=42003430;refseq.end_2=41986084;refseq.end_3=41986084;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=4815;refseq.mrnaCoord_3=4627;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name2_3=ARL17A;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.name_3=NM_001113738;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.I1604M;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_2=3;refseq.spliceDist_3=-647;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=41949926;refseq.start_2=41986084;refseq.start_3=41986084;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=soap GT 0/1 chr17 41987856 . T C 2 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=538;Dels=0.00;HRun=0;HaplotypeScore=20.59;MQ=3.27;MQ0=523;OQ=124.18;QD=0.23;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.4882T>C;refseq.codingCoordStr_3=c.*2182A>G;refseq.codonCoord_2=1628;refseq.end_1=42003430;refseq.end_2=41987856;refseq.end_3=41987856;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=4885;refseq.mrnaCoord_3=2855;refseq.name2_1=ARL17A;refseq.name2_2=LRRC37A2;refseq.name2_3=ARL17A;refseq.name_1=NM_016632;refseq.name_2=NM_001006607;refseq.name_3=NM_001113738;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.W1628R;refseq.referenceAA_2=Trp;refseq.referenceCodon_2=TGG;refseq.spliceDist_2=23;refseq.spliceDist_3=-2419;refseq.start_1=41949926;refseq.start_2=41987856;refseq.start_3=41987856;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=filterInsoap-gatk GT 1/1 chr17 42305121 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.17;MQ0=0;OQ=297.74;QD=7.09;RankSumP=0.628794;SB=-55.26;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.317T>C;refseq.codonCoord=106;refseq.end=42305121;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_003396;refseq.name2=WNT9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M106T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-18;refseq.start=42305121;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr17 42569518 . A G 1993.37 SnpCluster AC=1;AF=0.50;AN=2;DP=298;Dels=0.00;HRun=0;HaplotypeScore=80.12;MQ=84.35;MQ0=1;QD=6.69;SB=-133.70;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1930T>C;refseq.codingCoordStr_2=c.1912T>C;refseq.codonCoord_1=644;refseq.codonCoord_2=638;refseq.end_1=42569518;refseq.end_2=42569518;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2057;refseq.mrnaCoord_2=2039;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W644R;refseq.proteinCoordStr_2=p.W638R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=42569518;refseq.start_2=42569518;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:203,95:223:-269.78,-67.16,-651.05:99 chr17 42569526 rs62075618 T C 5264.27 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=101.58;MQ=85.24;MQ0=1;QD=13.93;SB=-1038.10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1922A>G;refseq.codingCoordStr_2=c.1904A>G;refseq.codonCoord_1=641;refseq.codonCoord_2=635;refseq.end_1=42569526;refseq.end_2=42569526;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2049;refseq.mrnaCoord_2=2031;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y641C;refseq.proteinCoordStr_2=p.Y635C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=42569526;refseq.start_2=42569526;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:220,158:306:-525.43,-92.15,-741.13:99 chr17 42569527 . A T 955.67 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=385;Dels=0.00;HRun=1;HaplotypeScore=105.58;MQ=85.37;MQ0=1;QD=2.48;SB=-70.17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1921T>A;refseq.codingCoordStr_2=c.1903T>A;refseq.codonCoord_1=641;refseq.codonCoord_2=635;refseq.end_1=42569527;refseq.end_2=42569527;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2048;refseq.mrnaCoord_2=2030;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y641N;refseq.proteinCoordStr_2=p.Y635N;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=42569527;refseq.start_2=42569527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:333,52:304:-190.39,-91.54,-1047.26:99 chr17 42569557 . G A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=548;Dels=0.00;HRun=4;HaplotypeScore=169.98;MQ=86.39;MQ0=1;OQ=8316.75;QD=15.18;SB=-3058.44;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1891C>T;refseq.codingCoordStr_2=c.1873C>T;refseq.codonCoord_1=631;refseq.codonCoord_2=625;refseq.end_1=42569557;refseq.end_2=42569557;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2018;refseq.mrnaCoord_2=2000;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R631*;refseq.proteinCoordStr_2=p.R625*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=42569557;refseq.start_2=42569557;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:320,228:429:-830.68,-129.21,-895.73:99 chr17 42569563 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=560;Dels=0.00;HRun=0;HaplotypeScore=177.35;MQ=86.93;MQ0=1;OQ=5119.47;QD=9.14;RankSumP=0.296657;SB=-1868.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1885T>A;refseq.codingCoordStr_2=c.1867T>A;refseq.codonCoord_1=629;refseq.codonCoord_2=623;refseq.end_1=42569563;refseq.end_2=42569563;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2012;refseq.mrnaCoord_2=1994;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C629S;refseq.proteinCoordStr_2=p.C623S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=42569563;refseq.start_2=42569563;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap-filterIngatk GT 0/1 chr17 42569603 . A T 5273.93 SnpCluster AC=1;AF=0.50;AN=2;DP=404;Dels=0.00;HRun=1;HaplotypeScore=104.04;MQ=88.95;MQ0=0;QD=13.05;SB=-1395.50;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1845T>A;refseq.codingCoordStr_2=c.1827T>A;refseq.codonCoord_1=615;refseq.codonCoord_2=609;refseq.end_1=42569603;refseq.end_2=42569603;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1972;refseq.mrnaCoord_2=1954;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H615Q;refseq.proteinCoordStr_2=p.H609Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-87;refseq.spliceDist_2=-87;refseq.start_1=42569603;refseq.start_2=42569603;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:244,160:339:-526.39,-102.08,-844.19:99 chr17 42569604 . T C 4669.06 SnpCluster AC=1;AF=0.50;AN=2;DP=399;Dels=0.00;HRun=0;HaplotypeScore=105.04;MQ=88.92;MQ0=0;QD=11.70;SB=-1351.42;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1844A>G;refseq.codingCoordStr_2=c.1826A>G;refseq.codonCoord_1=615;refseq.codonCoord_2=609;refseq.end_1=42569604;refseq.end_2=42569604;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1971;refseq.mrnaCoord_2=1953;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H615R;refseq.proteinCoordStr_2=p.H609R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=42569604;refseq.start_2=42569604;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:239,160:331:-465.91,-99.68,-899.32:99 chr17 42569605 . G T 1244.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=392;Dels=0.00;HRun=1;HaplotypeScore=106.50;MQ=88.73;MQ0=0;QD=3.18;RankSumP=0.353206;SB=-8.39;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1843C>A;refseq.codingCoordStr_2=c.1825C>A;refseq.codonCoord_1=615;refseq.codonCoord_2=609;refseq.end_1=42569605;refseq.end_2=42569605;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1970;refseq.mrnaCoord_2=1952;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H615N;refseq.proteinCoordStr_2=p.H609N;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=42569605;refseq.start_2=42569605;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=soap-filterIngatk GT 0/1 chr17 42569630 rs11570544 G A 3.23 PASS AC=1;AF=0.50;AN=2;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=37.41;MQ=89.48;MQ0=0;OQ=4103.08;QD=14.76;SB=-920.25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1818C>T;refseq.codingCoordStr_2=c.1800C>T;refseq.codonCoord_1=606;refseq.codonCoord_2=600;refseq.end_1=42569630;refseq.end_2=42569630;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1945;refseq.mrnaCoord_2=1927;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y606Y;refseq.proteinCoordStr_2=p.Y600Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=42569630;refseq.start_2=42569630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=gatk GT:AD:DP:GL:GQ 0/1:151,125:247:-409.31,-74.39,-580.12:99 chr17 42569642 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=274;Dels=0.00;HRun=1;HaplotypeScore=86.53;MQ=87.76;MQ0=0;OQ=965.32;QD=3.52;SB=29.01;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1806T>G;refseq.codingCoordStr_2=c.1788T>G;refseq.codonCoord_1=602;refseq.codonCoord_2=596;refseq.end_1=42569642;refseq.end_2=42569642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1933;refseq.mrnaCoord_2=1915;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V602V;refseq.proteinCoordStr_2=p.V596V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=84;refseq.spliceDist_2=84;refseq.start_1=42569642;refseq.start_2=42569642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:168,50:242:-308.90,-209.08,-810.13:99 chr17 42569681 rs62075622 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=53.08;MQ=86.86;MQ0=2;OQ=1868.93;QD=6.47;SB=-514.18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1767T>C;refseq.codingCoordStr_2=c.1749T>C;refseq.codonCoord_1=589;refseq.codonCoord_2=583;refseq.end_1=42569681;refseq.end_2=42569681;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1894;refseq.mrnaCoord_2=1876;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H589H;refseq.proteinCoordStr_2=p.H583H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=42569681;refseq.start_2=42569681;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:182,107:249:-265.16,-74.98,-781.06:99 chr17 42569689 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=272;Dels=0.00;HRun=0;HaplotypeScore=62.19;MQ=88.35;MQ0=2;OQ=1366.79;QD=5.02;RankSumP=0.0250435;SB=-426.22;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1759C>T;refseq.codingCoordStr_2=c.1741C>T;refseq.codonCoord_1=587;refseq.codonCoord_2=581;refseq.end_1=42569689;refseq.end_2=42569689;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1886;refseq.mrnaCoord_2=1868;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R587W;refseq.proteinCoordStr_2=p.R581W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=42569689;refseq.start_2=42569689;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr17 42574225 . T G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.376671;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1562A>C;refseq.codingCoordStr_2=c.1544A>C;refseq.codonCoord_1=521;refseq.codonCoord_2=515;refseq.end_1=42574225;refseq.end_2=42574225;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1689;refseq.mrnaCoord_2=1671;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y521S;refseq.proteinCoordStr_2=p.Y515S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=42574225;refseq.start_2=42574225;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=soap GT 1/0 chr17 42574298 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=390;Dels=0.00;HRun=1;HaplotypeScore=22.43;MQ=57.01;MQ0=93;OQ=2536.18;QD=6.50;RankSumP=0.240126;SB=-1127.97;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1489C>T;refseq.codingCoordStr_2=c.1471C>T;refseq.codonCoord_1=497;refseq.codonCoord_2=491;refseq.end_1=42574298;refseq.end_2=42574298;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1616;refseq.mrnaCoord_2=1598;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L497L;refseq.proteinCoordStr_2=p.L491L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=42574298;refseq.start_2=42574298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/0 chr17 42574310 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.196221;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1477A>G;refseq.codingCoordStr_2=c.1459A>G;refseq.codonCoord_1=493;refseq.codonCoord_2=487;refseq.end_1=42574310;refseq.end_2=42574310;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1604;refseq.mrnaCoord_2=1586;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I493V;refseq.proteinCoordStr_2=p.I487V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.start_1=42574310;refseq.start_2=42574310;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap GT 1/0 chr17 42574331 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=20.57;MQ=66.95;MQ0=51;OQ=534.66;QD=3.18;RankSumP=0.472653;SB=59.22;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1456A>C;refseq.codingCoordStr_2=c.1438A>C;refseq.codonCoord_1=486;refseq.codonCoord_2=480;refseq.end_1=42574331;refseq.end_2=42574331;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1583;refseq.mrnaCoord_2=1565;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N486H;refseq.proteinCoordStr_2=p.N480H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=42574331;refseq.start_2=42574331;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr17 42574363 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=4;HaplotypeScore=7.47;MQ=87.00;MQ0=3;OQ=201.51;QD=2.52;SB=47.17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1424T>G;refseq.codingCoordStr_2=c.1406T>G;refseq.codonCoord_1=475;refseq.codonCoord_2=469;refseq.end_1=42574363;refseq.end_2=42574363;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1551;refseq.mrnaCoord_2=1533;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M475R;refseq.proteinCoordStr_2=p.M469R;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=42574363;refseq.start_2=42574363;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:65,15:76:-46.32,-22.89,-252.21:99 chr17 42574696 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1294A>G;refseq.codingCoordStr_2=c.1276A>G;refseq.codonCoord_1=432;refseq.codonCoord_2=426;refseq.end_1=42574696;refseq.end_2=42574696;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1421;refseq.mrnaCoord_2=1403;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S432G;refseq.proteinCoordStr_2=p.S426G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=42574696;refseq.start_2=42574696;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr17 42574722 . C G 0.06 PASS AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=15.06;MQ=44.38;MQ0=70;OQ=98.72;QD=1.07;SB=-57.77;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1268G>C;refseq.codingCoordStr_2=c.1250G>C;refseq.codonCoord_1=423;refseq.codonCoord_2=417;refseq.end_1=42574722;refseq.end_2=42574722;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1395;refseq.mrnaCoord_2=1377;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G423A;refseq.proteinCoordStr_2=p.G417A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.start_1=42574722;refseq.start_2=42574722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=gatk GT:AD:DP:GL:GQ 0/1:81,8:22:-19.78,-6.62,-92.13:99 chr17 42574745 . T G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=7.13;MQ=53.48;MQ0=36;OQ=73.14;QD=1.33;SB=-62.03;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1245A>C;refseq.codingCoordStr_2=c.1227A>C;refseq.codonCoord_1=415;refseq.codonCoord_2=409;refseq.end_1=42574745;refseq.end_2=42574745;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1372;refseq.mrnaCoord_2=1354;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T415T;refseq.proteinCoordStr_2=p.T409T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=42574745;refseq.start_2=42574745;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:47,8:19:-16.32,-5.72,-56.66:99 chr17 42574749 . T C 0.05 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=18.46;MQ=56.09;MQ0=31;OQ=60.26;QD=1.21;SB=-54.80;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1241A>G;refseq.codingCoordStr_2=c.1223A>G;refseq.codonCoord_1=414;refseq.codonCoord_2=408;refseq.end_1=42574749;refseq.end_2=42574749;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1368;refseq.mrnaCoord_2=1350;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K414R;refseq.proteinCoordStr_2=p.K408R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=42574749;refseq.start_2=42574749;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=gatk GT:AD:DP:GL:GQ 0/1:42,8:19:-15.03,-5.72,-64.25:93.09 chr17 42584184 . C G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.426809;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1075G>C;refseq.codingCoordStr_2=c.1057G>C;refseq.codonCoord_1=359;refseq.codonCoord_2=353;refseq.end_1=42584184;refseq.end_2=42584184;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1202;refseq.mrnaCoord_2=1184;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G359R;refseq.proteinCoordStr_2=p.G353R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=42584184;refseq.start_2=42584184;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=FilteredInAll GT 1/0 chr17 42589276 . A C 0.07 PASS AC=1;AF=0.50;AN=2;DP=622;Dels=0.00;HRun=2;HaplotypeScore=12.14;MQ=77.35;MQ0=1;OQ=5788.65;QD=9.31;SB=-93.53;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.842+2;refseq.codingCoordStr_2=c.842+2;refseq.end_1=42589276;refseq.end_2=42589276;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=42589276;refseq.start_2=42589276;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=gatk GT:AD:DP:GL:GQ 0/1:142,480:292:-577.86,-87.95,-507.82:99 chr17 42589277 . C A 0.04 PASS AC=1;AF=0.50;AN=2;DP=683;Dels=0.00;HRun=1;HaplotypeScore=21.10;MQ=76.92;MQ0=6;OQ=4338.38;QD=6.35;SB=-175.97;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.842+1;refseq.codingCoordStr_2=c.842+1;refseq.end_1=42589277;refseq.end_2=42589277;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-donor_1;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=42589277;refseq.start_2=42589277;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=gatk GT:AD:DP:GL:GQ 0/1:136,544:264:-432.84,-86.37,-566.83:99 chr17 42589297 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=2275;Dels=0.00;HRun=0;HaplotypeScore=205.03;MQ=81.18;MQ0=13;OQ=92659.08;QD=40.73;RankSumP=0.497601;SB=-20798.06;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.823C>G;refseq.codingCoordStr_2=c.823C>G;refseq.codonCoord_1=275;refseq.codonCoord_2=275;refseq.end_1=42589297;refseq.end_2=42589297;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=950;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L275V;refseq.proteinCoordStr_2=p.L275V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=42589297;refseq.start_2=42589297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap-filterIngatk GT 0/1 chr17 42589330 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=4163;Dels=0.00;HRun=1;HaplotypeScore=73.81;MQ=79.31;MQ0=20;OQ=1312.73;QD=0.32;SB=-462.36;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.790A>C;refseq.codingCoordStr_2=c.790A>C;refseq.codonCoord_1=264;refseq.codonCoord_2=264;refseq.end_1=42589330;refseq.end_2=42589330;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=917;refseq.mrnaCoord_2=917;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T264P;refseq.proteinCoordStr_2=p.T264P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=42589330;refseq.start_2=42589330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3825,336:3913:-1312.81,-1178.25,-14374.27:99 chr17 42589342 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=4317;Dels=0.00;HRun=0;HaplotypeScore=63.03;MQ=79.26;MQ0=21;OQ=160446.36;QD=37.17;RankSumP=0.0129634;SB=-59485.33;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.778A>C;refseq.codingCoordStr_2=c.778A>C;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=42589342;refseq.end_2=42589342;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=905;refseq.mrnaCoord_2=905;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N260H;refseq.proteinCoordStr_2=p.N260H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=42589342;refseq.start_2=42589342;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap-filterIngatk GT 1/0 chr17 42589359 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=3942;Dels=0.00;HRun=0;HaplotypeScore=99.28;MQ=82.03;MQ0=14;OQ=147560.65;QD=37.43;RankSumP=0.250046;SB=-66358.07;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.761T>G;refseq.codingCoordStr_2=c.761T>G;refseq.codonCoord_1=254;refseq.codonCoord_2=254;refseq.end_1=42589359;refseq.end_2=42589359;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=888;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L254*;refseq.proteinCoordStr_2=p.L254*;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=42589359;refseq.start_2=42589359;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=soap-filterIngatk GT 0/1 chr17 42589402 . T G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1442;Dels=0.00;HRun=0;HaplotypeScore=291.48;MQ=76.60;MQ0=12;OQ=52139.45;QD=36.16;SB=-2501.19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.718A>C;refseq.codingCoordStr_2=c.718A>C;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.end_1=42589402;refseq.end_2=42589402;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=845;refseq.mrnaCoord_2=845;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I240L;refseq.proteinCoordStr_2=p.I240L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=42589402;refseq.start_2=42589402;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:169,1272:1387:-5212.94,-417.62,-599.69:99 chr17 42589403 . T G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1403;Dels=0.00;HRun=0;HaplotypeScore=331.14;MQ=76.14;MQ0=12;OQ=50650.97;QD=36.10;SB=-1861.23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.717A>C;refseq.codingCoordStr_2=c.717A>C;refseq.codonCoord_1=239;refseq.codonCoord_2=239;refseq.end_1=42589403;refseq.end_2=42589403;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=844;refseq.mrnaCoord_2=844;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V239V;refseq.proteinCoordStr_2=p.V239V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=42589403;refseq.start_2=42589403;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:170,1232:1349:-5064.10,-406.19,-578.12:99 chr17 42589415 rs3208661 A G 13265.90 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1153;Dels=0.00;HRun=0;HaplotypeScore=212.28;MQ=74.16;MQ0=18;QD=11.51;SB=98.36;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.705T>C;refseq.codingCoordStr_2=c.705T>C;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.end_1=42589415;refseq.end_2=42589415;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=832;refseq.mrnaCoord_2=832;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I235I;refseq.proteinCoordStr_2=p.I235I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=42589415;refseq.start_2=42589415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:149,1003:479:-1325.59,-144.24,-566.41:99 chr17 42589416 . A G 679.86 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=1125;Dels=0.00;HRun=0;HaplotypeScore=169.44;MQ=74.15;MQ0=18;QD=0.60;SB=57.40;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.704T>C;refseq.codingCoordStr_2=c.704T>C;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.end_1=42589416;refseq.end_2=42589416;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=831;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I235T;refseq.proteinCoordStr_2=p.I235T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=42589416;refseq.start_2=42589416;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1086,38:179:-125.18,-53.91,-614.03:99 chr17 42589419 rs3208662 T G 14059.91 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1095;Dels=0.00;HRun=0;HaplotypeScore=131.57;MQ=73.97;MQ0=17;QD=12.84;SB=62.35;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.701A>C;refseq.codingCoordStr_2=c.701A>C;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.end_1=42589419;refseq.end_2=42589419;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=828;refseq.mrnaCoord_2=828;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y234S;refseq.proteinCoordStr_2=p.Y234S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.start_1=42589419;refseq.start_2=42589419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:78,1014:425:-1404.99,-132.01,-304.85:99 chr17 42589429 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=907;Dels=0.00;HRun=2;HaplotypeScore=61.79;MQ=73.87;MQ0=14;OQ=31719.04;QD=34.97;SB=89.33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.691T>C;refseq.codingCoordStr_2=c.691T>C;refseq.codonCoord_1=231;refseq.codonCoord_2=231;refseq.end_1=42589429;refseq.end_2=42589429;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=818;refseq.mrnaCoord_2=818;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S231P;refseq.proteinCoordStr_2=p.S231P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=42589429;refseq.start_2=42589429;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:105,802:874:-3170.90,-263.14,-416.92:99 chr17 42589433 . A G 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=842;Dels=0.00;HRun=0;HaplotypeScore=33.48;MQ=73.85;MQ0=14;OQ=28053.76;QD=33.32;SB=89.33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.687T>C;refseq.codingCoordStr_2=c.687T>C;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.end_1=42589433;refseq.end_2=42589433;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=814;refseq.mrnaCoord_2=814;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D229D;refseq.proteinCoordStr_2=p.D229D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=42589433;refseq.start_2=42589433;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:125,717:813:-2804.38,-244.78,-466.21:99 chr17 42589476 . A C 4835.90 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=250;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=78.24;MQ0=6;QD=19.34;SB=38.15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.644T>G;refseq.codingCoordStr_2=c.644T>G;refseq.codonCoord_1=215;refseq.codonCoord_2=215;refseq.end_1=42589476;refseq.end_2=42589476;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=771;refseq.mrnaCoord_2=771;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L215W;refseq.proteinCoordStr_2=p.L215W;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=42589476;refseq.start_2=42589476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:55,195:174:-482.59,-52.39,-194.57:99 chr17 42589480 . T C 3101.41 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=223;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=78.95;MQ0=6;QD=13.91;SB=35.15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.640A>G;refseq.codingCoordStr_2=c.640A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=42589480;refseq.end_2=42589480;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=767;refseq.mrnaCoord_2=767;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R214G;refseq.proteinCoordStr_2=p.R214G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=42589480;refseq.start_2=42589480;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:50,173:147:-357.72,-44.29,-191.03:99 chr17 42589485 . A C 1946.54 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=174;Dels=0.00;HRun=0;HaplotypeScore=14.99;MQ=80.38;MQ0=5;QD=11.19;SB=32.13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.635T>G;refseq.codingCoordStr_2=c.635T>G;refseq.codonCoord_1=212;refseq.codonCoord_2=212;refseq.end_1=42589485;refseq.end_2=42589485;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=762;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L212*;refseq.proteinCoordStr_2=p.L212*;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=42589485;refseq.start_2=42589485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:42,132:99:-227.75,-29.81,-147.64:99 chr17 42589490 . C G 270.82 ESPStandard;SnpCluster AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=16.99;MQ=84.21;MQ0=0;QD=2.33;SB=23.11;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.631-1;refseq.codingCoordStr_2=c.631-1;refseq.end_1=42589490;refseq.end_2=42589490;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-acceptor_-1;refseq.spliceInfo_2=splice-acceptor_-1;refseq.start_1=42589490;refseq.start_2=42589490;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:35,80:46:-44.22,-13.85,-177.84:99 chr17 42589644 . G C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.333496;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.581C>G;refseq.codingCoordStr_2=c.581C>G;refseq.codonCoord_1=194;refseq.codonCoord_2=194;refseq.end_1=42589644;refseq.end_2=42589644;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=708;refseq.mrnaCoord_2=708;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S194C;refseq.proteinCoordStr_2=p.S194C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=42589644;refseq.start_2=42589644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap GT 0/1 chr17 42589656 rs1058529 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=31.09;MQ=81.57;MQ0=63;OQ=308.66;QD=1.02;SB=98.26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.569A>G;refseq.codingCoordStr_2=c.569A>G;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=42589656;refseq.end_2=42589656;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=696;refseq.mrnaCoord_2=696;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N190S;refseq.proteinCoordStr_2=p.N190S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=42589656;refseq.start_2=42589656;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:251,51:234:-104.62,-70.47,-889.17:99 chr17 42589706 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=371;Dels=0.00;HRun=3;HaplotypeScore=65.97;MQ=73.85;MQ0=80;OQ=1249.20;QD=3.37;RankSumP=0.256637;SB=-577.50;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.519A>T;refseq.codingCoordStr_2=c.519A>T;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.end_1=42589706;refseq.end_2=42589706;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=646;refseq.mrnaCoord_2=646;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L173F;refseq.proteinCoordStr_2=p.L173F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=42589706;refseq.start_2=42589706;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=soap-filterIngatk GT 1/0 chr17 42589709 . A C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=360;Dels=0.00;HRun=0;HaplotypeScore=67.92;MQ=74.33;MQ0=75;OQ=388.14;QD=1.08;RankSumP=0.319091;SB=-217.66;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.516T>G;refseq.codingCoordStr_2=c.516T>G;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=42589709;refseq.end_2=42589709;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=643;refseq.mrnaCoord_2=643;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S172S;refseq.proteinCoordStr_2=p.S172S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=42589709;refseq.start_2=42589709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=soap-filterIngatk GT 0/1 chr17 42589724 . T C 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0441090;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.501A>G;refseq.codingCoordStr_2=c.501A>G;refseq.codonCoord_1=167;refseq.codonCoord_2=167;refseq.end_1=42589724;refseq.end_2=42589724;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=628;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T167T;refseq.proteinCoordStr_2=p.T167T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=42589724;refseq.start_2=42589724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=soap GT 1/0 chr17 42602361 . G A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=89.35;MQ0=4;OQ=349.93;QD=3.36;SB=-40.81;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.298C>T;refseq.codingCoordStr_2=c.298C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=42602361;refseq.end_2=42602361;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=425;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q100*;refseq.proteinCoordStr_2=p.Q100*;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=42602361;refseq.start_2=42602361;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:74,30:81:-62.67,-24.39,-280.00:99 chr17 42602380 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=88.63;MQ0=4;OQ=149.45;QD=1.61;SB=-9.65;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.279T>C;refseq.codingCoordStr_2=c.279T>C;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=42602380;refseq.end_2=42602380;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S93S;refseq.proteinCoordStr_2=p.S93S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=42602380;refseq.start_2=42602380;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:73,18:71:-42.35,-24.12,-261.84:99 chr17 42604305 rs62077265 T C 65.49 PASS AC=1;AF=0.50;AN=2;DB;DP=618;Dels=0.00;HRun=0;HaplotypeScore=19.88;MQ=74.43;MQ0=19;OQ=12924.42;QD=20.91;SB=-4067.35;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.228A>G;refseq.codingCoordStr_2=c.228A>G;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=42604305;refseq.end_2=42604305;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=355;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A76A;refseq.proteinCoordStr_2=p.A76A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=42604305;refseq.start_2=42604305;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:182,436:455:-1291.44,-137.01,-578.77:99 chr17 42604315 rs62077266 T C 10.06 PASS AC=1;AF=0.50;AN=2;DB;DP=659;Dels=0.00;HRun=0;HaplotypeScore=13.90;MQ=73.84;MQ0=20;OQ=15106.28;QD=22.92;SB=-6105.89;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.218A>G;refseq.codingCoordStr_2=c.218A>G;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=42604315;refseq.end_2=42604315;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=345;refseq.mrnaCoord_2=345;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y73C;refseq.proteinCoordStr_2=p.Y73C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=42604315;refseq.start_2=42604315;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=gatk GT:AD:DP:GL:GQ 0/1:190,468:496:-1509.63,-149.34,-593.34:99 chr17 42604329 rs1058201 T G -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=692;Dels=0.00;HRun=2;HaplotypeScore=112.09;MQ=72.75;MQ0=20;OQ=16587.60;QD=23.97;SB=-7459.37;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.204A>C;refseq.codingCoordStr_2=c.204A>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=42604329;refseq.end_2=42604329;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=331;refseq.mrnaCoord_2=331;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T68T;refseq.proteinCoordStr_2=p.T68T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=42604329;refseq.start_2=42604329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:186,506:530:-1657.76,-159.57,-542.81:99 chr17 42604334 . T G 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.134253;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.199A>C;refseq.codingCoordStr_2=c.199A>C;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.end_1=42604334;refseq.end_2=42604334;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=326;refseq.mrnaCoord_2=326;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T67P;refseq.proteinCoordStr_2=p.T67P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=42604334;refseq.start_2=42604334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=FilteredInAll GT 1/0 chr17 42604364 rs1058176 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=268;Dels=0.00;HRun=3;HaplotypeScore=54.11;MQ=72.21;MQ0=14;OQ=5711.44;QD=21.31;SB=58.80;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.169G>A;refseq.codingCoordStr_2=c.169G>A;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.end_1=42604364;refseq.end_2=42604364;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=296;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A57T;refseq.proteinCoordStr_2=p.A57T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=42604364;refseq.start_2=42604364;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:130,138:223:-570.14,-67.15,-392.96:99 chr17 42604371 rs1058163 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=50.11;MQ=73.19;MQ0=8;OQ=5088.71;QD=23.67;SB=2.25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.162A>C;refseq.codingCoordStr_2=c.162A>C;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=42604371;refseq.end_2=42604371;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=289;refseq.mrnaCoord_2=289;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A54A;refseq.proteinCoordStr_2=p.A54A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=42604371;refseq.start_2=42604371;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:69,146:190:-507.87,-57.21,-264.85:99 chr17 42604390 rs62077270 T G 1.44 PASS AC=1;AF=0.50;AN=2;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=27.12;MQ=81.64;MQ0=0;OQ=1572.40;QD=13.44;SB=10.18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.143A>C;refseq.codingCoordStr_2=c.143A>C;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=42604390;refseq.end_2=42604390;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=270;refseq.mrnaCoord_2=270;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y48S;refseq.proteinCoordStr_2=p.Y48S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=42604390;refseq.start_2=42604390;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=gatk GT:AD:DP:GL:GQ 0/1:59,58:105:-192.14,-31.62,-221.87:99 chr17 42604398 rs62077271 T C 0.86 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=16.96;MQ=85.46;MQ0=0;OQ=710.19;QD=7.89;SB=44.18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.135A>G;refseq.codingCoordStr_2=c.135A>G;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.end_1=42604398;refseq.end_2=42604398;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=262;refseq.mrnaCoord_2=262;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A45A;refseq.proteinCoordStr_2=p.A45A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=42604398;refseq.start_2=42604398;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:53,37:81:-98.70,-24.40,-230.56:99 chr17 42604407 rs62077272 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=37.94;MQ=91.62;MQ0=0;OQ=156.35;QD=2.23;SB=44.18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.126T>C;refseq.codingCoordStr_2=c.126T>C;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=42604407;refseq.end_2=42604407;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=253;refseq.mrnaCoord_2=253;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F42F;refseq.proteinCoordStr_2=p.F42F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=42604407;refseq.start_2=42604407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:59,11:64:-38.19,-19.27,-237.51:99 chr17 42613950 rs62077275 A G 4.59 PASS AC=1;AF=0.50;AN=2;DB;DP=186;Dels=0.00;HRun=2;HaplotypeScore=4.75;MQ=88.80;MQ0=3;OQ=1841.70;QD=9.90;SB=-921.12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.80T>C;refseq.codingCoordStr_2=c.80T>C;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=42613950;refseq.end_2=42613950;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=207;refseq.mrnaCoord_2=207;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L27P;refseq.proteinCoordStr_2=p.L27P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=42613950;refseq.start_2=42613950;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=gatk GT:AD:DP:GL:GQ 0/1:103,83:153:-233.53,-46.07,-427.17:99 chr17 42613953 rs62077276 A G 2.34 PASS AC=1;AF=0.50;AN=2;DB;DP=183;Dels=0.00;HRun=2;HaplotypeScore=4.06;MQ=88.63;MQ0=3;OQ=1658.72;QD=9.06;SB=-773.15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.77T>C;refseq.codingCoordStr_2=c.77T>C;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=42613953;refseq.end_2=42613953;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=204;refseq.mrnaCoord_2=204;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F26S;refseq.proteinCoordStr_2=p.F26S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=42613953;refseq.start_2=42613953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=gatk GT:AD:DP:GL:GQ 0/1:99,83:149:-214.03,-44.87,-415.69:99 chr17 42613970 rs62077277 A G 14.38 PASS AC=1;AF=0.50;AN=2;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=11.02;MQ=88.38;MQ0=3;OQ=1874.77;QD=10.42;SB=-938.37;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.60T>C;refseq.codingCoordStr_2=c.60T>C;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=42613970;refseq.end_2=42613970;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=187;refseq.mrnaCoord_2=187;refseq.name2_1=CDC27;refseq.name2_2=CDC27;refseq.name_1=NM_001114091;refseq.name_2=NM_001256;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A20A;refseq.proteinCoordStr_2=p.A20A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=42613970;refseq.start_2=42613970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=gatk GT:AD:DP:GL:GQ 0/1:96,84:147:-235.02,-44.26,-407.71:99 chr17 42716844 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.398T>G;refseq.codonCoord=133;refseq.end=42716844;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_000212;refseq.name2=ITGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=37;refseq.start=42716844;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 42723336 . A C 281.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=561;Dels=0.00;HRun=0;HaplotypeScore=14.20;MQ=98.66;MQ0=0;OQ=10423.84;QD=18.58;RankSumP=0.466093;SB=-3273.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1143A>C;refseq.codonCoord=381;refseq.end=42723336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_000212;refseq.name2=ITGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V381V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=18;refseq.start=42723336;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 42724776 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=97.35;MQ0=0;OQ=868.19;QD=10.59;RankSumP=0.211004;SB=-263.59;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1533A>G;refseq.codonCoord=511;refseq.end=42724776;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1553;refseq.name=NM_000212;refseq.name2=ITGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E511E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-158;refseq.start=42724776;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 42724788 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.14;MQ0=0;OQ=713.13;QD=12.30;RankSumP=0.546556;SB=-269.55;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1545G>A;refseq.codonCoord=515;refseq.end=42724788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1565;refseq.name=NM_000212;refseq.name2=ITGB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R515R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-146;refseq.start=42724788;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr17 42802831 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=23.81;MQ=98.49;MQ0=0;OQ=6552.41;QD=23.15;RankSumP=0.381077;SB=-2814.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.835A>G;refseq.codonCoord=279;refseq.end=42802831;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1243;refseq.name=NM_152347;refseq.name2=C17orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.I279V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=30;refseq.start=42802831;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr17 42806893 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=98.81;MQ0=0;OQ=1297.24;QD=12.01;RankSumP=0.299875;SB=-457.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.934G>A;refseq.codonCoord=312;refseq.end=42806893;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1342;refseq.name=NM_152347;refseq.name2=C17orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=57;refseq.start=42806893;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr17 42823841 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=1046.62;QD=18.36;RankSumP=0.543299;SB=-535.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1622A>T;refseq.codonCoord=541;refseq.end=42823841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2030;refseq.name=NM_152347;refseq.name2=C17orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.D541V;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=40;refseq.start=42823841;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr17 42845250 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=98.70;MQ0=0;OQ=5995.75;QD=20.75;RankSumP=0.142354;SB=-2331.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2391C>T;refseq.codonCoord=797;refseq.end=42845250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2799;refseq.name=NM_152347;refseq.name2=C17orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.F797F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-32;refseq.start=42845250;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr17 43095467 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.710C>G;refseq.codonCoord=237;refseq.end=43095467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1046;refseq.name=NM_002265;refseq.name2=KPNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A237G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=14;refseq.start=43095467;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr17 43166209 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=98.34;MQ0=0;OQ=778.29;QD=14.68;RankSumP=0.506012;SB=-80.33;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.390A>G;refseq.codonCoord=130;refseq.end=43166209;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=601;refseq.name=NM_013351;refseq.name2=TBX21;refseq.positionType=CDS;refseq.proteinCoordStr=p.G130G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-102;refseq.start=43166209;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr17 43175021 . A C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.000668919;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.538A>C;refseq.codonCoord=180;refseq.end=43175021;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=749;refseq.name=NM_013351;refseq.name2=TBX21;refseq.positionType=CDS;refseq.proteinCoordStr=p.T180P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=47;refseq.start=43175021;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 43240686 . A G 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=13.67;MQ=98.49;MQ0=0;OQ=4440.41;QD=25.09;RankSumP=1.00000;SB=-654.23;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2499T>C;refseq.codonCoord=833;refseq.end=43240686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2702;refseq.name=NM_145798;refseq.name2=OSBPL7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y833Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=79;refseq.start=43240686;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 43240755 . C T 275.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=98.01;MQ0=0;OQ=4154.23;QD=22.58;RankSumP=0.452365;SB=-1462.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2430G>A;refseq.codonCoord=810;refseq.end=43240755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2633;refseq.name=NM_145798;refseq.name2=OSBPL7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T810T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=43240755;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 43241728 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1996T>C;refseq.codonCoord=666;refseq.end=43241728;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2199;refseq.name=NM_145798;refseq.name2=OSBPL7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S666P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-30;refseq.start=43241728;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 43245706 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.98;MQ0=0;OQ=1570.07;QD=18.26;RankSumP=0.389678;SB=-513.05;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1662G>A;refseq.codonCoord=554;refseq.end=43245706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1865;refseq.name=NM_145798;refseq.name2=OSBPL7;refseq.positionType=CDS;refseq.proteinCoordStr=p.K554K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=63;refseq.start=43245706;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr17 43259419 . C T 191.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.96;MQ0=0;OQ=1369.43;QD=15.22;RankSumP=0.286857;SB=-485.37;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.373G>A;refseq.codonCoord=125;refseq.end=43259419;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_145255;refseq.name2=MRPL10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V125I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-15;refseq.start=43259419;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr17 43270787 . T C 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=1941.40;QD=35.95;RankSumP=1.00000;SB=-575.54;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.967A>G;refseq.codingCoordStr_2=c.967A>G;refseq.codonCoord_1=323;refseq.codonCoord_2=323;refseq.end_1=43270787;refseq.end_2=43270787;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1093;refseq.mrnaCoord_2=1093;refseq.name2_1=SCRN2;refseq.name2_2=SCRN2;refseq.name_1=NM_001145023;refseq.name_2=NM_138355;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M323V;refseq.proteinCoordStr_2=p.M323V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=43270787;refseq.start_2=43270787;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr17 43349043 . C T 102.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.65;MQ0=0;OQ=1433.37;QD=17.70;RankSumP=0.0356160;SB=-367.37;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.607C>T;refseq.codonCoord=203;refseq.end=43349043;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=744;refseq.name=NM_003110;refseq.name2=SP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L203L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-453;refseq.start=43349043;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 43349093 . T C 255.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=98.42;MQ0=0;OQ=1457.91;QD=20.83;RankSumP=0.201977;SB=-751.71;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.657T>C;refseq.codonCoord=219;refseq.end=43349093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_003110;refseq.name2=SP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L219L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-403;refseq.start=43349093;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr17 43349153 . G A 251.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.25;MQ0=0;OQ=1098.24;QD=16.90;RankSumP=0.257350;SB=-536.05;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.717G>A;refseq.codonCoord=239;refseq.end=43349153;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_003110;refseq.name2=SP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P239P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-343;refseq.start=43349153;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr17 43357743 . G T 106.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=98.82;MQ0=0;OQ=1959.06;QD=12.72;RankSumP=0.0885014;SB=-833.44;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1578G>T;refseq.codonCoord=526;refseq.end=43357743;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1715;refseq.name=NM_003110;refseq.name2=SP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V526V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=31;refseq.start=43357743;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr17 43375697 . C T 154.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=2193.02;QD=19.41;RankSumP=0.274633;SB=-91.32;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.165C>T;refseq.codonCoord=55;refseq.end=43375697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_018129;refseq.name2=PNPO;refseq.positionType=CDS;refseq.proteinCoordStr=p.S55S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=27;refseq.start=43375697;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr17 43405893 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.62T>G;refseq.codonCoord=21;refseq.end=43405893;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=146;refseq.name=NM_176096;refseq.name2=CDK5RAP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V21G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=43405893;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 43491132 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=348;Dels=0.00;HRun=1;HaplotypeScore=14.99;MQ=98.80;MQ0=0;OQ=7611.98;QD=21.87;RankSumP=0.0769982;SB=-2267.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1449G>C;refseq.codonCoord=483;refseq.end=43491132;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2100;refseq.name=NM_003204;refseq.name2=NFE2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S483S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=477;refseq.start=43491132;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 43617170 . C T 326.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=98.89;MQ0=0;OQ=6430.06;QD=18.06;RankSumP=0.304198;SB=-1077.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.481G>A;refseq.codingCoordStr_2=c.481G>A;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=43617170;refseq.end_2=43617170;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=593;refseq.mrnaCoord_2=593;refseq.name2_1=SKAP1;refseq.name2_2=SKAP1;refseq.name_1=NM_001075099;refseq.name_2=NM_003726;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G161S;refseq.proteinCoordStr_2=p.G161S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=43617170;refseq.start_2=43617170;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr17 43962020 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=372;Dels=0.00;HRun=2;HaplotypeScore=8.52;MQ=98.75;MQ0=0;OQ=13948.85;QD=37.50;RankSumP=1.00000;SB=-4835.55;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.794A>G;refseq.codonCoord=265;refseq.end=43962020;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_002144;refseq.name2=HOXB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E265G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-215;refseq.start=43962020;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr17 43962816 . C T 214.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=98.61;MQ0=0;OQ=3074.66;QD=20.92;RankSumP=0.138936;SB=-1362.89;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.450G>A;refseq.codonCoord=150;refseq.end=43962816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_002144;refseq.name2=HOXB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A150A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-128;refseq.start=43962816;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr17 43962957 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.94;MQ0=0;OQ=723.03;QD=14.76;RankSumP=0.700231;SB=-333.69;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.309A>T;refseq.codonCoord=103;refseq.end=43962957;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_002144;refseq.name2=HOXB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q103H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-269;refseq.start=43962957;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr17 43963029 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.86;MQ0=0;OQ=391.31;QD=18.63;RankSumP=0.301340;SB=-83.31;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.237C>T;refseq.codonCoord=79;refseq.end=43963029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_002144;refseq.name2=HOXB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S79S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=243;refseq.start=43963029;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr17 43963202 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.269297;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.64T>C;refseq.codonCoord=22;refseq.end=43963202;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_002144;refseq.name2=HOXB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y22H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=70;refseq.start=43963202;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr17 43984592 . G T 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.80;MQ0=0;OQ=180.54;QD=12.04;RankSumP=0.588578;SB=-68.74;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.244C>A;refseq.codonCoord=82;refseq.end=43984592;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_002146;refseq.name2=HOXB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P82T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-205;refseq.start=43984592;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr17 44025519 . T C 261.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=98.35;MQ0=0;OQ=7547.19;QD=36.46;RankSumP=1.00000;SB=-3259.88;SecondBestBaseQ=2;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_5=c.525A>G;refseq.codonCoord_5=175;refseq.end_1=44032797;refseq.end_2=44036277;refseq.end_3=44032797;refseq.end_4=44036277;refseq.end_5=44025519;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=584;refseq.name2_1=LOC404266;refseq.name2_2=LOC404266;refseq.name2_3=LOC404266;refseq.name2_4=LOC404266;refseq.name2_5=HOXB5;refseq.name_1=NR_033202;refseq.name_2=NR_033201;refseq.name_3=NR_033203;refseq.name_4=NR_033204;refseq.name_5=NM_002147;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_intron;refseq.positionType_4=non_coding_intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.Q175Q;refseq.referenceAA_5=Gln;refseq.referenceCodon_5=CAA;refseq.spliceDist_5=-38;refseq.start_1=44022961;refseq.start_2=44022961;refseq.start_3=44024736;refseq.start_4=44024736;refseq.start_5=44025519;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=-;refseq.variantAA_5=Gln;refseq.variantCodon_5=CAG;set=Intersection GT 1/1 chr17 44043255 . T C 372.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.98;MQ0=0;OQ=10621.74;QD=40.54;RankSumP=1.00000;SB=-4003.48;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.25A>G;refseq.codonCoord=9;refseq.end=44043255;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=128;refseq.name=NM_004502;refseq.name2=HOXB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T9A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=128;refseq.start=44043255;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr17 44045837 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.458A>C;refseq.codonCoord=153;refseq.end=44045837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_024016;refseq.name2=HOXB8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y153S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=34;refseq.start=44045837;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr17 44159249 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.757A>C;refseq.codonCoord=253;refseq.end=44159249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_006361;refseq.name2=HOXB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T253P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=156;refseq.start=44159249;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 44160589 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.39;MQ0=0;OQ=1558.10;QD=13.91;RankSumP=0.0219700;SB=-560.32;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.366C>T;refseq.codonCoord=122;refseq.end=44160589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=522;refseq.name=NM_006361;refseq.name2=HOXB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.S122S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-236;refseq.start=44160589;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 44202195 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2304C>A;refseq.codingCoordStr_2=c.1383C>A;refseq.codonCoord_1=768;refseq.codonCoord_2=461;refseq.end_1=44202195;refseq.end_2=44202195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2339;refseq.mrnaCoord_2=1427;refseq.name2_1=TTLL6;refseq.name2_2=TTLL6;refseq.name_1=NM_001130918;refseq.name_2=NM_173623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N768K;refseq.proteinCoordStr_2=p.N461K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.start_1=44202195;refseq.start_2=44202195;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr17 44202363 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=3.10;MQ=98.88;MQ0=0;OQ=1826.51;QD=10.44;RankSumP=0.233988;SB=-928.85;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2136G>T;refseq.codingCoordStr_2=c.1215G>T;refseq.codonCoord_1=712;refseq.codonCoord_2=405;refseq.end_1=44202363;refseq.end_2=44202363;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2171;refseq.mrnaCoord_2=1259;refseq.name2_1=TTLL6;refseq.name2_2=TTLL6;refseq.name_1=NM_001130918;refseq.name_2=NM_173623;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E712D;refseq.proteinCoordStr_2=p.E405D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=44202363;refseq.start_2=44202363;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr17 44294657 . C G 249.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.52;MQ0=0;OQ=5443.55;QD=45.74;RankSumP=1.00000;SB=-2498.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1165C>G;refseq.codonCoord=389;refseq.end=44294657;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1244;refseq.name=NM_005831;refseq.name2=CALCOCO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P389A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=44294657;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 44327642 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.243T>G;refseq.codingCoordStr_2=c.243T>G;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.end_1=44327642;refseq.end_2=44327642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=307;refseq.mrnaCoord_2=377;refseq.name2_1=ATP5G1;refseq.name2_2=ATP5G1;refseq.name_1=NM_001002027;refseq.name_2=NM_005175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G81G;refseq.proteinCoordStr_2=p.G81G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=44327642;refseq.start_2=44327642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 44362962 . C T 54.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=2;HaplotypeScore=3.68;MQ=97.95;MQ0=0;OQ=8807.86;QD=41.35;RankSumP=1.00000;SB=-4367.05;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.651G>A;refseq.codonCoord=217;refseq.end=44362962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=709;refseq.name=NM_007241;refseq.name2=SNF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L217L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=12;refseq.start=44362962;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr17 44565428 . A G 104.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=3.05;MQ=98.32;MQ0=0;OQ=1103.18;QD=13.96;RankSumP=0.0357379;SB=-384.40;SecondBestBaseQ=27;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.42A>G;refseq.codonCoord_3=14;refseq.end_1=44573597;refseq.end_2=44573597;refseq.end_3=44565428;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=101;refseq.name2_1=B4GALNT2;refseq.name2_2=B4GALNT2;refseq.name2_3=B4GALNT2;refseq.name_1=NM_001159388;refseq.name_2=NM_001159387;refseq.name_3=NM_153446;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.E14E;refseq.referenceAA_3=Glu;refseq.referenceCodon_3=GAA;refseq.spliceDist_3=101;refseq.start_1=44564882;refseq.start_2=44565178;refseq.start_3=44565428;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr17 44565505 . C A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.94;MQ0=0;OQ=50.93;QD=5.09;RankSumP=0.657576;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.119C>A;refseq.codonCoord_3=40;refseq.end_1=44573597;refseq.end_2=44573597;refseq.end_3=44565505;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=178;refseq.name2_1=B4GALNT2;refseq.name2_2=B4GALNT2;refseq.name2_3=B4GALNT2;refseq.name_1=NM_001159388;refseq.name_2=NM_001159387;refseq.name_3=NM_153446;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A40D;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCT;refseq.spliceDist_3=-76;refseq.start_1=44564882;refseq.start_2=44565178;refseq.start_3=44565505;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asp;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr17 44596603 . T C 304.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.14;MQ0=0;OQ=4495.77;QD=39.09;RankSumP=1.00000;SB=-1045.70;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.921T>C;refseq.codingCoordStr_2=c.843T>C;refseq.codingCoordStr_3=c.1101T>C;refseq.codonCoord_1=307;refseq.codonCoord_2=281;refseq.codonCoord_3=367;refseq.end_1=44596603;refseq.end_2=44596603;refseq.end_3=44596603;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=945;refseq.mrnaCoord_2=958;refseq.mrnaCoord_3=1160;refseq.name2_1=B4GALNT2;refseq.name2_2=B4GALNT2;refseq.name2_3=B4GALNT2;refseq.name_1=NM_001159387;refseq.name_2=NM_001159388;refseq.name_3=NM_153446;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N307N;refseq.proteinCoordStr_2=p.N281N;refseq.proteinCoordStr_3=p.N367N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.start_1=44596603;refseq.start_2=44596603;refseq.start_3=44596603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/1 chr17 44649031 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.79951e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.257T>G;refseq.codingCoordStr_2=c.257T>G;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=44649031;refseq.end_2=44649031;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=755;refseq.name2_1=ABI3;refseq.name2_2=ABI3;refseq.name_1=NM_001135186;refseq.name_2=NM_016428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V86G;refseq.proteinCoordStr_2=p.V86G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-11;refseq.spliceDist_2=-29;refseq.start_1=44649031;refseq.start_2=44649031;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 44652296 . T C 208.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=692.11;QD=36.43;RankSumP=1.00000;SB=-261.77;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.608T>C;refseq.codingCoordStr_2=c.626T>C;refseq.codonCoord_1=203;refseq.codonCoord_2=209;refseq.end_1=44652296;refseq.end_2=44652296;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1106;refseq.mrnaCoord_2=1124;refseq.name2_1=ABI3;refseq.name2_2=ABI3;refseq.name_1=NM_001135186;refseq.name_2=NM_016428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F203S;refseq.proteinCoordStr_2=p.F209S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=44652296;refseq.start_2=44652296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/1 chr17 44659041 . A C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=4.95744e-07;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.-41T>G;refseq.codingCoordStr_2=c.12T>G;refseq.codonCoord_2=4;refseq.end_1=44659041;refseq.end_2=44659041;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=378;refseq.mrnaCoord_2=378;refseq.name2_1=PHOSPHO1;refseq.name2_2=PHOSPHO1;refseq.name_1=NM_001143804;refseq.name_2=NM_178500;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C4W;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=44659041;refseq.start_2=44659041;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Trp;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr17 44749856 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.231A>C;refseq.codingCoordStr_2=c.231A>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=44749856;refseq.end_2=44749856;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=695;refseq.mrnaCoord_2=550;refseq.name2_1=ZNF652;refseq.name2_2=ZNF652;refseq.name_1=NM_001145365;refseq.name_2=NM_014897;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E77D;refseq.proteinCoordStr_2=p.E77D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=489;refseq.spliceDist_2=489;refseq.start_1=44749856;refseq.start_2=44749856;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr17 44942999 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=21.74;MQ=98.86;MQ0=0;OQ=7523.89;QD=16.72;RankSumP=0.000154008;SB=-3037.30;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.795C>T;refseq.codonCoord=265;refseq.end=44942999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_002507;refseq.name2=NGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G265G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-27;refseq.start=44942999;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 0/1 chr17 45011600 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.698T>G;refseq.codonCoord=233;refseq.end=45011600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_007225;refseq.name2=NXPH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V233G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=644;refseq.start=45011600;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr17 45137563 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.450A>G;refseq.codonCoord=150;refseq.end=45137563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_005827;refseq.name2=SLC35B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G150G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-79;refseq.start=45137563;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 45243851 . A G 333.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.56;MQ0=0;OQ=5431.32;QD=41.46;RankSumP=1.00000;SB=-1916.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.768A>G;refseq.codonCoord=256;refseq.end=45243851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_007067;refseq.name2=MYST2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R256R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=15;refseq.start=45243851;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr17 45280319 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.60T>G;refseq.codingCoordStr_2=c.60T>G;refseq.codingCoordStr_3=c.60T>G;refseq.codingCoordStr_4=c.60T>G;refseq.codingCoordStr_5=c.60T>G;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.codonCoord_3=20;refseq.codonCoord_4=20;refseq.codonCoord_5=20;refseq.end_1=45280319;refseq.end_2=45280319;refseq.end_3=45280319;refseq.end_4=45280319;refseq.end_5=45280319;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=60;refseq.mrnaCoord_2=60;refseq.mrnaCoord_3=60;refseq.mrnaCoord_4=60;refseq.mrnaCoord_5=60;refseq.name2_1=TAC4;refseq.name2_2=TAC4;refseq.name2_3=TAC4;refseq.name2_4=TAC4;refseq.name2_5=TAC4;refseq.name_1=NM_001077503;refseq.name_2=NM_001077504;refseq.name_3=NM_001077505;refseq.name_4=NM_001077506;refseq.name_5=NM_170685;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G20G;refseq.proteinCoordStr_2=p.G20G;refseq.proteinCoordStr_3=p.G20G;refseq.proteinCoordStr_4=p.G20G;refseq.proteinCoordStr_5=p.G20G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.spliceDist_5=60;refseq.start_1=45280319;refseq.start_2=45280319;refseq.start_3=45280319;refseq.start_4=45280319;refseq.start_5=45280319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr17 45401962 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=15.36;MQ=96.75;MQ0=0;OQ=1588.78;QD=13.46;RankSumP=0.239496;SB=-790.79;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.131A>G;refseq.codonCoord=44;refseq.end=45401962;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_138281;refseq.name2=DLX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N44S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-153;refseq.start=45401962;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 45425877 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=98.36;MQ0=0;OQ=1382.60;QD=14.25;RankSumP=0.158599;SB=-532.08;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.402G>A;refseq.codonCoord=134;refseq.end=45425877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_005220;refseq.name2=DLX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T134T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=77;refseq.start=45425877;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 45600356 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.362T>G;refseq.codingCoordStr_2=c.362T>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=45600356;refseq.end_2=45600356;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=398;refseq.name2_1=SGCA;refseq.name2_2=SGCA;refseq.name_1=NM_000023;refseq.name_2=NM_001135697;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V121G;refseq.proteinCoordStr_2=p.V121G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=45600356;refseq.start_2=45600356;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 45618178 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4208A>C;refseq.codonCoord=1403;refseq.end=45618178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4334;refseq.name=NM_000088;refseq.name2=COL1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1403T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-41;refseq.start=45618178;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 45619042 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.25273e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3772A>C;refseq.codonCoord=1258;refseq.end=45619042;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3898;refseq.name=NM_000088;refseq.name2=COL1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1258P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-43;refseq.start=45619042;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 45620494 . T C 27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=93.57;MQ0=0;OQ=431.33;QD=26.96;RankSumP=1.00000;SB=-41.68;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3223A>G;refseq.codonCoord=1075;refseq.end=45620494;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3349;refseq.name=NM_000088;refseq.name2=COL1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1075A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=16;refseq.start=45620494;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 45623222 . A G 179.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=4.87;MQ=98.38;MQ0=0;OQ=7177.69;QD=36.07;RankSumP=1.00000;SB=-3466.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2298T>C;refseq.codonCoord=766;refseq.end=45623222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2424;refseq.name=NM_000088;refseq.name2=COL1A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T766T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-46;refseq.start=45623222;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 45711259 . G C 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=3;HaplotypeScore=4.16;MQ=98.87;MQ0=0;OQ=10632.56;QD=45.44;RankSumP=1.00000;SB=-2620.64;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.269G>C;refseq.codingCoordStr_2=c.269G>C;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=45711259;refseq.end_2=45711259;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=379;refseq.mrnaCoord_2=344;refseq.name2_1=TMEM92;refseq.name2_2=TMEM92;refseq.name_1=NM_001168215;refseq.name_2=NM_153229;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S90T;refseq.proteinCoordStr_2=p.S90T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=45711259;refseq.start_2=45711259;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr17 45786031 . G A 146.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=574.72;QD=41.05;RankSumP=1.00000;SB=-312.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.177G>A;refseq.codonCoord=59;refseq.end=45786031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_022167;refseq.name2=XYLT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E59E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=42;refseq.start=45786031;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr17 45786196 rs739989 C T 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=114.98;QD=23.00;SB=-54.67;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=45786196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=451;refseq.name=NM_022167;refseq.name2=XYLT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P114P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=207;refseq.start=45786196;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=gatk GT:AD:DP:GL:GQ 1/1:1,4:4:-15.03,-1.21,-0.00:12.04 chr17 45787323 . G C 218.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.38;MQ0=0;OQ=10494.38;QD=41.32;RankSumP=1.00000;SB=-2887.79;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.914G>C;refseq.codonCoord=305;refseq.end=45787323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1023;refseq.name=NM_022167;refseq.name2=XYLT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R305T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-94;refseq.start=45787323;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 45788957 . T C 421.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.05;MQ0=0;OQ=4426.55;QD=35.99;RankSumP=1.00000;SB=-2104.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1569T>C;refseq.codonCoord=523;refseq.end=45788957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_022167;refseq.name2=XYLT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y523Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=87;refseq.start=45788957;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 45807775 . A C 142.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=220;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=98.76;MQ0=0;OQ=8407.05;QD=38.21;RankSumP=1.00000;SB=-2536.31;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.207A>C;refseq.codingCoordStr_2=c.207A>C;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.end_1=45807775;refseq.end_2=45807775;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=289;refseq.mrnaCoord_2=289;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E69D;refseq.proteinCoordStr_2=p.E69D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=231;refseq.spliceDist_2=231;refseq.start_1=45807775;refseq.start_2=45807775;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr17 45807976 . A G 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.329489;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.408A>G;refseq.codingCoordStr_2=c.408A>G;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=45807976;refseq.end_2=45807976;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=490;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K136K;refseq.proteinCoordStr_2=p.K136K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-368;refseq.spliceDist_2=-368;refseq.start_1=45807976;refseq.start_2=45807976;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=soap GT 0/1 chr17 45807977 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.678386;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.409A>C;refseq.codingCoordStr_2=c.409A>C;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=45807977;refseq.end_2=45807977;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K137Q;refseq.proteinCoordStr_2=p.K137Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-367;refseq.spliceDist_2=-367;refseq.start_1=45807977;refseq.start_2=45807977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chr17 45807981 . C A 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.428482;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.413C>A;refseq.codingCoordStr_2=c.413C>A;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.end_1=45807981;refseq.end_2=45807981;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=495;refseq.mrnaCoord_2=495;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P138H;refseq.proteinCoordStr_2=p.P138H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-363;refseq.spliceDist_2=-363;refseq.start_1=45807981;refseq.start_2=45807981;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=soap GT 1/0 chr17 45810984 . A T 450.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=97.93;MQ0=0;OQ=4231.45;QD=37.78;RankSumP=1.00000;SB=-1921.29;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.933A>T;refseq.codingCoordStr_2=c.933A>T;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=45810984;refseq.end_2=45810984;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1015;refseq.mrnaCoord_2=1015;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T311T;refseq.proteinCoordStr_2=p.T311T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=45810984;refseq.start_2=45810984;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chr17 45811192 . T C 349.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.92;MQ0=0;OQ=8957.32;QD=41.09;RankSumP=1.00000;SB=-2463.01;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1049T>C;refseq.codingCoordStr_2=c.1049T>C;refseq.codonCoord_1=350;refseq.codonCoord_2=350;refseq.end_1=45811192;refseq.end_2=45811192;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1131;refseq.mrnaCoord_2=1131;refseq.name2_1=EME1;refseq.name2_2=EME1;refseq.name_1=NM_001166131;refseq.name_2=NM_152463;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I350T;refseq.proteinCoordStr_2=p.I350T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=45811192;refseq.start_2=45811192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr17 45955306 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1394T>G;refseq.codonCoord=465;refseq.end=45955306;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_032133;refseq.name2=MYCBPAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V465G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=45955306;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr17 45971270 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=98.81;MQ0=0;OQ=1311.80;QD=17.04;RankSumP=0.0441536;SB=-515.76;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.708C>T;refseq.codonCoord=236;refseq.end=45971270;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_017957;refseq.name2=EPN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D236D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=27;refseq.start=45971270;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr17 45981181 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=96.79;MQ0=0;QD=0.72;RankSumP=0.500111;SB=50.16;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.373A>C;refseq.codonCoord=125;refseq.end=45981181;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_022827;refseq.name2=SPATA20;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=12;refseq.start=45981181;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr17 45983510 . C A 76 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00190421;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1536C>A;refseq.codonCoord=512;refseq.end=45983510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1544;refseq.name=NM_022827;refseq.name2=SPATA20;refseq.positionType=CDS;refseq.proteinCoordStr=p.P512P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-41;refseq.start=45983510;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr17 46108422 . C T 177.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=98.33;MQ0=0;OQ=2237.80;QD=13.99;RankSumP=0.106148;SB=-465.86;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3039C>T;refseq.codonCoord=1013;refseq.end=46108422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3119;refseq.name=NM_003786;refseq.name2=ABCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1013G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-29;refseq.start=46108422;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 46116104 . C T 241.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=15.95;MQ=98.56;MQ0=0;OQ=6587.99;QD=16.47;RankSumP=0.433103;SB=-2731.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3942C>T;refseq.codonCoord=1314;refseq.end=46116104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4022;refseq.name=NM_003786;refseq.name2=ABCC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1314H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-13;refseq.start=46116104;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr17 46268389 . G A 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=2.98;MQ=94.69;MQ0=0;OQ=93.27;QD=5.49;RankSumP=0.608780;SB=-0.98;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.92G>A;refseq.codonCoord=31;refseq.end=46268389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_175575;refseq.name2=WFIKKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R31Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-119;refseq.start=46268389;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr17 46272332 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=15.93;MQ=98.07;MQ0=0;OQ=2525.48;QD=12.26;RankSumP=0.187149;SB=-932.27;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.684C>T;refseq.codonCoord=228;refseq.end=46272332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1378;refseq.name=NM_175575;refseq.name2=WFIKKN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S228S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=474;refseq.start=46272332;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 46295421 . T C 362.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=98.79;MQ0=0;OQ=4864.17;QD=18.49;RankSumP=0.449915;SB=-1638.20;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.957A>G;refseq.codonCoord=319;refseq.end=46295421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_005749;refseq.name2=TOB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K319K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-836;refseq.start=46295421;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr17 46594142 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.396G>T;refseq.codingCoordStr_3=c.471G>T;refseq.codonCoord_2=132;refseq.codonCoord_3=157;refseq.end_1=46599176;refseq.end_2=46594142;refseq.end_3=46594142;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=504;refseq.mrnaCoord_3=724;refseq.name2_1=NME1-NME2;refseq.name2_2=NME1;refseq.name2_3=NME1;refseq.name_1=NM_001018136;refseq.name_2=NM_000269;refseq.name_3=NM_198175;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L132F;refseq.proteinCoordStr_3=p.L157F;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=46593643;refseq.start_2=46594142;refseq.start_3=46594142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 0/1 chr17 46693256 . C T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=97.15;MQ0=0;OQ=193.44;QD=6.91;RankSumP=0.283387;SB=-70.06;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.312C>T;refseq.codonCoord=104;refseq.end=46693256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_016001;refseq.name2=UTP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.D104D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-31;refseq.start=46693256;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr17 46705801 . A C 248.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=7.58;MQ=98.39;MQ0=0;OQ=6255.47;QD=20.51;RankSumP=0.0346261;SB=-1614.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.702A>C;refseq.codonCoord=234;refseq.end=46705801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_016001;refseq.name2=UTP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.G234G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=46705801;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr17 47068299 . G A 318.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=98.72;MQ0=0;OQ=5526.40;QD=18.93;RankSumP=0.365273;SB=-2166.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.705C>T;refseq.codingCoordStr_2=c.705C>T;refseq.codingCoordStr_3=c.705C>T;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.codonCoord_3=235;refseq.end_1=47068299;refseq.end_2=47068299;refseq.end_3=47068299;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1817;refseq.mrnaCoord_2=1382;refseq.mrnaCoord_3=1691;refseq.name2_1=CA10;refseq.name2_2=CA10;refseq.name2_3=CA10;refseq.name_1=NM_001082533;refseq.name_2=NM_001082534;refseq.name_3=NM_020178;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y235Y;refseq.proteinCoordStr_2=p.Y235Y;refseq.proteinCoordStr_3=p.Y235Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.start_1=47068299;refseq.start_2=47068299;refseq.start_3=47068299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr17 49255444 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.51A>C;refseq.codonCoord=17;refseq.end=49255444;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K17N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=207;refseq.start=49255444;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr17 49255728 . C T 279.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=5.48;MQ=98.45;MQ0=0;OQ=3952.48;QD=22.85;RankSumP=0.308800;SB=-1682.75;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.335C>T;refseq.codonCoord=112;refseq.end=49255728;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=491;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A112V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=491;refseq.start=49255728;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 49256083 . A G 271.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=98.64;MQ0=0;OQ=3137.36;QD=15.23;RankSumP=0.146322;SB=-1499.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.690A>G;refseq.codonCoord=230;refseq.end=49256083;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=846;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L230L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=846;refseq.start=49256083;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 49256642 . C T 361.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=98.90;MQ0=0;OQ=5652.19;QD=19.56;RankSumP=0.277411;SB=-2281.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1249C>T;refseq.codonCoord=417;refseq.end=49256642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P417S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-931;refseq.start=49256642;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr17 49256702 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=2;HaplotypeScore=6.93;MQ=98.72;MQ0=0;OQ=5454.44;QD=23.92;RankSumP=0.327367;SB=-2312.98;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1309C>G;refseq.codonCoord=437;refseq.end=49256702;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1465;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R437G;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-871;refseq.start=49256702;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr17 49257251 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=386.73;QD=19.34;RankSumP=0.0886851;SB=-46.64;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1858C>T;refseq.codonCoord=620;refseq.end=49257251;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2014;refseq.name=NM_032559;refseq.name2=KIF2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L620L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-322;refseq.start=49257251;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 50431798 . G A 310.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.90;MQ0=0;OQ=6441.32;QD=22.06;RankSumP=0.206739;SB=-1662.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.274G>A;refseq.codonCoord=92;refseq.end=50431798;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_178509;refseq.name2=STXBP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-14;refseq.start=50431798;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr17 50846574 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.45T>C;refseq.codonCoord=15;refseq.end=50846574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_012329;refseq.name2=MMD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A15A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=19;refseq.start=50846574;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr17 51206227 . C T 333.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=98.07;MQ0=0;OQ=4637.58;QD=40.68;RankSumP=1.00000;SB=-1780.26;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.267C>T;refseq.codingCoordStr_2=c.483C>T;refseq.codonCoord_1=89;refseq.codonCoord_2=161;refseq.end_1=51206227;refseq.end_2=51206227;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=825;refseq.mrnaCoord_2=592;refseq.name2_1=PCTP;refseq.name2_2=PCTP;refseq.name_1=NM_001102402;refseq.name_2=NM_021213;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I89I;refseq.proteinCoordStr_2=p.I161I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=51206227;refseq.start_2=51206227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/1 chr17 51805037 . C A 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=2;HaplotypeScore=3.98;MQ=98.81;MQ0=0;OQ=19416.56;QD=38.52;RankSumP=1.00000;SB=-8838.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.642C>A;refseq.codonCoord=214;refseq.end=51805037;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_153228;refseq.name2=ANKFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L214L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=32;refseq.start=51805037;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr17 51805133 . G A 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=2;HaplotypeScore=2.63;MQ=98.75;MQ0=0;OQ=8627.40;QD=40.70;RankSumP=1.00000;SB=-2942.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.738G>A;refseq.codonCoord=246;refseq.end=51805133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_153228;refseq.name2=ANKFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K246K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-68;refseq.start=51805133;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr17 51889633 . G A 394.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.90;MQ0=0;OQ=8165.73;QD=42.75;RankSumP=1.00000;SB=-3560.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1333G>A;refseq.codonCoord=445;refseq.end=51889633;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_153228;refseq.name2=ANKFN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V445I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=17;refseq.start=51889633;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr17 52027031 . T G 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.72779e-06;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.448T>G;refseq.codonCoord=150;refseq.end=52027031;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=973;refseq.name=NM_005450;refseq.name2=NOG;refseq.positionType=CDS;refseq.proteinCoordStr=p.W150G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-920;refseq.start=52027031;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 52227438 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=90;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1159.59;QD=12.88;RankSumP=0.410630;SB=-402.30;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.331A>G;refseq.codonCoord=111;refseq.end=52227438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_001085430;refseq.name2=C17orf67;refseq.positionType=CDS;refseq.proteinCoordStr=p.I111V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-35;refseq.start=52227438;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr17 52267338 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=11.05;MQ=97.73;MQ0=0;OQ=1203.22;QD=7.92;RankSumP=0.336066;SB=-469.30;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=52267338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_003647;refseq.name2=DGKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.G61G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=201;refseq.start=52267338;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr17 52276493 . A C 109.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1384.11;QD=15.21;RankSumP=0.377227;SB=-631.33;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.579A>C;refseq.codonCoord=193;refseq.end=52276493;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=759;refseq.name=NM_003647;refseq.name2=DGKE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T193T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-46;refseq.start=52276493;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr17 52333793 . G A 302.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=3.55;MQ=98.63;MQ0=0;OQ=3848.44;QD=21.50;RankSumP=0.104623;SB=-1367.84;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1073C>T;refseq.codonCoord=358;refseq.end=52333793;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_005082;refseq.name2=TRIM25;refseq.positionType=CDS;refseq.proteinCoordStr=p.P358L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-15;refseq.start=52333793;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr17 52382849 . T C 179.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=41.84;MQ0=127;OQ=7590.45;QD=21.03;RankSumP=1.00000;SB=-3697.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.753A>G;refseq.codonCoord=251;refseq.end=52382849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_004645;refseq.name2=COIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E251E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=508;refseq.start=52382849;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 52383169 . C T 235.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.38;MQ0=0;OQ=6050.74;QD=19.71;RankSumP=0.343044;SB=-2515.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.433G>A;refseq.codonCoord=145;refseq.end=52383169;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_004645;refseq.name2=COIL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V145I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=188;refseq.start=52383169;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr17 52537877 . C T 219.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=98.40;MQ0=0;OQ=1617.73;QD=15.26;RankSumP=0.348936;SB=-688.66;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.53C>T;refseq.codonCoord=18;refseq.end=52537877;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_003488;refseq.name2=AKAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A18V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=77;refseq.start=52537877;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr17 52538316 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=194;Dels=0.00;HRun=0;HaplotypeScore=10.79;MQ=98.70;MQ0=0;OQ=2688.61;QD=13.86;RankSumP=0.275078;SB=-1363.74;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.492G>A;refseq.codonCoord=164;refseq.end=52538316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=723;refseq.name=NM_003488;refseq.name2=AKAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V164V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=516;refseq.start=52538316;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr17 52538715 . T C 147.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.67;MQ0=0;OQ=748.52;QD=21.39;RankSumP=0.627747;SB=-319.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.891T>C;refseq.codonCoord=297;refseq.end=52538715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1122;refseq.name=NM_003488;refseq.name2=AKAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D297D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-824;refseq.start=52538715;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr17 52538791 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=75.45;MQ0=2;OQ=338.53;QD=9.67;RankSumP=0.530728;SB=-169.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.967G>A;refseq.codonCoord=323;refseq.end=52538791;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_003488;refseq.name2=AKAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G323S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-748;refseq.start=52538791;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr17 52538812 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=76.88;MQ0=2;OQ=411.68;QD=11.44;RankSumP=0.325275;SB=-208.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.988A>G;refseq.codonCoord=330;refseq.end=52538812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_003488;refseq.name2=AKAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S330G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-727;refseq.start=52538812;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr17 52833747 . A G 176.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.59;MQ0=0;OQ=3019.00;QD=16.06;RankSumP=0.335868;SB=-1122.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.321A>G;refseq.codingCoordStr_2=c.309A>G;refseq.codonCoord_1=107;refseq.codonCoord_2=103;refseq.end_1=52833747;refseq.end_2=52833747;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=494;refseq.mrnaCoord_2=344;refseq.name2_1=MSI2;refseq.name2_2=MSI2;refseq.name_1=NM_138962;refseq.name_2=NM_170721;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T107T;refseq.proteinCoordStr_2=p.T103T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=52833747;refseq.start_2=52833747;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr17 53312067 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=269;Dels=0.00;HRun=1;HaplotypeScore=8.40;MQ=98.68;MQ0=0;OQ=5482.95;QD=20.38;RankSumP=0.456299;SB=-1949.82;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.368C>T;refseq.codonCoord=123;refseq.end=53312067;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1087;refseq.name=NM_017949;refseq.name2=CUEDC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S123L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=32;refseq.start=53312067;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr17 53411603 . T C 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.250498;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1047A>G;refseq.codonCoord=349;refseq.end=53411603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_007146;refseq.name2=VEZF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q349Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=71;refseq.start=53411603;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr17 53602935 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.920T>G;refseq.codonCoord=307;refseq.end=53602935;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=920;refseq.name=NM_001004707;refseq.name2=OR4D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V307G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=53602935;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr17 53632680 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1633T>G;refseq.codonCoord=545;refseq.end=53632680;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1752;refseq.name=NM_000502;refseq.name2=EPX;refseq.positionType=CDS;refseq.proteinCoordStr=p.F545V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-76;refseq.start=53632680;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr17 53698514 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.1272T>G;refseq.codingCoordStr_3=c.1521T>G;refseq.codonCoord_2=424;refseq.codonCoord_3=507;refseq.end_1=53698514;refseq.end_2=53698514;refseq.end_3=53698514;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1749;refseq.mrnaCoord_2=1588;refseq.mrnaCoord_3=1837;refseq.name2_1=LPO;refseq.name2_2=LPO;refseq.name2_3=LPO;refseq.name_1=NR_027647;refseq.name_2=NM_001160102;refseq.name_3=NM_006151;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G424G;refseq.proteinCoordStr_3=p.G507G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.start_1=53698514;refseq.start_2=53698514;refseq.start_3=53698514;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 53737511 . C T 116.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=98.17;MQ0=0;OQ=1063.58;QD=13.29;RankSumP=0.424085;SB=-163.61;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.5454G>A;refseq.codingCoordStr_2=c.5274G>A;refseq.codonCoord_1=1818;refseq.codonCoord_2=1758;refseq.end_1=53737511;refseq.end_2=53737511;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6325;refseq.mrnaCoord_2=6145;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1818R;refseq.proteinCoordStr_2=p.R1758R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=53737511;refseq.start_2=53737511;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr17 53738743 . T C 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.02;MQ0=0;OQ=142.95;QD=8.93;RankSumP=0.262443;SB=-90.97;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.5183A>G;refseq.codingCoordStr_2=c.5003A>G;refseq.codonCoord_1=1728;refseq.codonCoord_2=1668;refseq.end_1=53738743;refseq.end_2=53738743;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6054;refseq.mrnaCoord_2=5874;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1728R;refseq.proteinCoordStr_2=p.H1668R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=53738743;refseq.start_2=53738743;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr17 53741117 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=98.67;MQ0=0;OQ=963.05;QD=12.35;RankSumP=0.421257;SB=-379.30;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.4515T>C;refseq.codingCoordStr_2=c.4335T>C;refseq.codonCoord_1=1505;refseq.codonCoord_2=1445;refseq.end_1=53741117;refseq.end_2=53741117;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5386;refseq.mrnaCoord_2=5206;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1505D;refseq.proteinCoordStr_2=p.D1445D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-217;refseq.spliceDist_2=-217;refseq.start_1=53741117;refseq.start_2=53741117;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr17 53741357 . T A 192.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.10;MQ0=0;OQ=856.94;QD=15.03;RankSumP=0.350213;SB=-454.56;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.4275A>T;refseq.codingCoordStr_2=c.4095A>T;refseq.codonCoord_1=1425;refseq.codonCoord_2=1365;refseq.end_1=53741357;refseq.end_2=53741357;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5146;refseq.mrnaCoord_2=4966;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1425R;refseq.proteinCoordStr_2=p.R1365R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=384;refseq.spliceDist_2=384;refseq.start_1=53741357;refseq.start_2=53741357;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr17 53741385 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.500010;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.4247C>A;refseq.codingCoordStr_2=c.4067C>A;refseq.codonCoord_1=1416;refseq.codonCoord_2=1356;refseq.end_1=53741385;refseq.end_2=53741385;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5118;refseq.mrnaCoord_2=4938;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1416Q;refseq.proteinCoordStr_2=p.P1356Q;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=356;refseq.spliceDist_2=356;refseq.start_1=53741385;refseq.start_2=53741385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=soap GT 0/1 chr17 53743237 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=1743.97;QD=22.36;RankSumP=0.437998;SB=-648.67;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3418G>C;refseq.codingCoordStr_2=c.3238G>C;refseq.codonCoord_1=1140;refseq.codonCoord_2=1080;refseq.end_1=53743237;refseq.end_2=53743237;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4289;refseq.mrnaCoord_2=4109;refseq.name2_1=BZRAP1;refseq.name2_2=BZRAP1;refseq.name_1=NM_004758;refseq.name_2=NM_024418;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1140P;refseq.proteinCoordStr_2=p.A1080P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=53743237;refseq.start_2=53743237;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr17 53793300 . G A 211.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=97.97;MQ0=0;OQ=1466.61;QD=14.24;RankSumP=0.167092;SB=-671.71;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.692C>T;refseq.codonCoord=231;refseq.end=53793300;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_017763;refseq.name2=RNF43;refseq.positionType=CDS;refseq.proteinCoordStr=p.P231L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=53793300;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr17 53891223 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1625T>G;refseq.codonCoord=542;refseq.end=53891223;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1749;refseq.name=NM_001080439;refseq.name2=HSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M542R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=83;refseq.start=53891223;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr17 53895266 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=690;Dels=0.00;HRun=1;HaplotypeScore=11.63;MQ=98.81;MQ0=0;OQ=10993.24;QD=15.93;RankSumP=0.000575005;SB=-3918.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1418G>A;refseq.codonCoord=473;refseq.end=53895266;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1542;refseq.name=NM_001080439;refseq.name2=HSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S473N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-125;refseq.start=53895266;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 0/1 chr17 53899279 . T G 264.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=386;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.92;MQ0=0;OQ=15901.41;QD=41.20;RankSumP=1.00000;SB=-7457.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.986A>C;refseq.codonCoord=329;refseq.end=53899279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_001080439;refseq.name2=HSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N329T;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-35;refseq.start=53899279;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr17 53927706 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2796T>G;refseq.codonCoord=932;refseq.end=53927706;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2906;refseq.name=NM_004687;refseq.name2=MTMR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C932W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-415;refseq.start=53927706;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr17 53941135 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.360A>C;refseq.codonCoord=120;refseq.end=53941135;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=470;refseq.name=NM_004687;refseq.name2=MTMR4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R120S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=67;refseq.start=53941135;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr17 53975166 . C T 188.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.14;MQ0=0;OQ=1012.89;QD=18.76;RankSumP=0.485518;SB=-256.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1381G>A;refseq.codonCoord=461;refseq.end=53975166;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1517;refseq.name=NM_001038704;refseq.name2=C17orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.G461S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-181;refseq.start=53975166;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 53975500 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=21.64;MQ=98.73;MQ0=0;OQ=4502.67;QD=16.31;RankSumP=0.151290;SB=-1658.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1047T>C;refseq.codonCoord=349;refseq.end=53975500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1183;refseq.name=NM_001038704;refseq.name2=C17orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.H349H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-515;refseq.start=53975500;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 53976285 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=37.88;MQ=98.53;MQ0=0;OQ=4691.65;QD=15.23;RankSumP=0.000620382;SB=-1877.92;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.262C>A;refseq.codonCoord=88;refseq.end=53976285;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001038704;refseq.name2=C17orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.P88T;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=398;refseq.start=53976285;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr17 53976358 . T C 223.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=307;Dels=0.00;HRun=1;HaplotypeScore=8.04;MQ=98.75;MQ0=0;OQ=5377.02;QD=17.51;RankSumP=0.450382;SB=-2103.37;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.189A>G;refseq.codonCoord=63;refseq.end=53976358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_001038704;refseq.name2=C17orf47;refseq.positionType=CDS;refseq.proteinCoordStr=p.S63S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=325;refseq.start=53976358;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr17 53991853 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=810;Dels=0.00;HRun=0;HaplotypeScore=9.76;MQ=98.85;MQ0=0;OQ=34212.46;QD=42.24;RankSumP=1.00000;SB=-16055.92;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.4227A>G;refseq.codingCoordStr_2=c.4347A>G;refseq.codonCoord_1=1409;refseq.codonCoord_2=1449;refseq.end_1=53991853;refseq.end_2=53991853;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4345;refseq.mrnaCoord_2=4465;refseq.name2_1=TEX14;refseq.name2_2=TEX14;refseq.name_1=NM_031272;refseq.name_2=NM_198393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1409E;refseq.proteinCoordStr_2=p.E1449E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=53991853;refseq.start_2=53991853;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr17 53998108 . A G 223.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.49;MQ0=0;OQ=1332.09;QD=17.30;RankSumP=0.0282078;SB=-596.30;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3963T>C;refseq.codingCoordStr_2=c.4083T>C;refseq.codonCoord_1=1321;refseq.codonCoord_2=1361;refseq.end_1=53998108;refseq.end_2=53998108;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4081;refseq.mrnaCoord_2=4201;refseq.name2_1=TEX14;refseq.name2_2=TEX14;refseq.name_1=NM_031272;refseq.name_2=NM_198393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1321N;refseq.proteinCoordStr_2=p.N1361N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=53998108;refseq.start_2=53998108;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr17 54014017 . C T 359.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=4.34;MQ=98.62;MQ0=0;OQ=7426.37;QD=41.26;RankSumP=1.00000;SB=-3251.25;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.3245G>A;refseq.codonCoord_2=1082;refseq.end_1=54016849;refseq.end_2=54014017;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3363;refseq.name2_1=TEX14;refseq.name2_2=TEX14;refseq.name_1=NM_031272;refseq.name_2=NM_198393;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G1082D;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=-47;refseq.start_1=54012102;refseq.start_2=54014017;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr17 54031367 . T C 241.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1967.63;QD=18.22;RankSumP=0.436182;SB=-714.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2338A>G;refseq.codingCoordStr_2=c.2338A>G;refseq.codonCoord_1=780;refseq.codonCoord_2=780;refseq.end_1=54031367;refseq.end_2=54031367;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2456;refseq.mrnaCoord_2=2456;refseq.name2_1=TEX14;refseq.name2_2=TEX14;refseq.name_1=NM_031272;refseq.name_2=NM_198393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N780D;refseq.proteinCoordStr_2=p.N780D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-132;refseq.spliceDist_2=-132;refseq.start_1=54031367;refseq.start_2=54031367;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr17 54129107 . T G 46.56 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=387;Dels=0.00;HRun=2;HaplotypeScore=32.09;MQ=97.67;MQ0=0;QD=0.12;RankSumP=0.00000;SB=706.24;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.459T>G;refseq.codonCoord=153;refseq.end=54129107;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_058216;refseq.name2=RAD51C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G153G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=55;refseq.start=54129107;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 54129109 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.461A>G;refseq.codonCoord=154;refseq.end=54129109;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=503;refseq.name=NM_058216;refseq.name2=RAD51C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E154G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=57;refseq.start=54129109;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr17 54142242 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.729T>G;refseq.codonCoord=243;refseq.end=54142242;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_058216;refseq.name2=RAD51C;refseq.positionType=CDS;refseq.proteinCoordStr=p.G243G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=24;refseq.start=54142242;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 54188453 . G A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.189866;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=54188453;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=223;refseq.name=NM_014906;refseq.name2=PPM1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.E32E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=223;refseq.start=54188453;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr17 54188456 . G C 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.591753;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.99G>C;refseq.codonCoord=33;refseq.end=54188456;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_014906;refseq.name2=PPM1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.P33P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=226;refseq.start=54188456;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr17 54188489 . G A 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.219780;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.132G>A;refseq.codonCoord=44;refseq.end=54188489;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_014906;refseq.name2=PPM1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.E44E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=259;refseq.start=54188489;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr17 54188490 . T C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.526474;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.133T>C;refseq.codonCoord=45;refseq.end=54188490;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_014906;refseq.name2=PPM1E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S45P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=260;refseq.start=54188490;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr17 54642203 . T G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=54642203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=51;refseq.name=NM_018149;refseq.name2=C17orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=51;refseq.start=54642203;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 54642236 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=98.37;MQ0=0;OQ=781.00;QD=11.00;RankSumP=0.272506;SB=-398.21;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.42A>G;refseq.codonCoord=14;refseq.end=54642236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=84;refseq.name=NM_018149;refseq.name2=C17orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.A14A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=84;refseq.start=54642236;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr17 54642921 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.727A>C;refseq.codonCoord=243;refseq.end=54642921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_018149;refseq.name2=C17orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.T243P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=769;refseq.start=54642921;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr17 54645165 . G A 241.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=2495.09;QD=17.82;RankSumP=0.341221;SB=-562.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2199G>A;refseq.codonCoord=733;refseq.end=54645165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2241;refseq.name=NM_018149;refseq.name2=C17orf71;refseq.positionType=CDS;refseq.proteinCoordStr=p.R733R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=294;refseq.start=54645165;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr17 55005320 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.670437;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.257A>G;refseq.codingCoordStr_2=c.488A>G;refseq.codonCoord_1=86;refseq.codonCoord_2=163;refseq.end_1=55005320;refseq.end_2=55005320;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=635;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N86S;refseq.proteinCoordStr_2=p.N163S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=55005320;refseq.start_2=55005320;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chr17 55005336 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.397604;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.273T>A;refseq.codingCoordStr_2=c.504T>A;refseq.codonCoord_1=91;refseq.codonCoord_2=168;refseq.end_1=55005336;refseq.end_2=55005336;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=420;refseq.mrnaCoord_2=651;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S91R;refseq.proteinCoordStr_2=p.S168R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=55005336;refseq.start_2=55005336;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=soap GT 1/0 chr17 55005898 . T C 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.451124;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.331T>C;refseq.codingCoordStr_2=c.562T>C;refseq.codonCoord_1=111;refseq.codonCoord_2=188;refseq.end_1=55005898;refseq.end_2=55005898;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=478;refseq.mrnaCoord_2=709;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L111L;refseq.proteinCoordStr_2=p.L188L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=55005898;refseq.start_2=55005898;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=soap GT 1/0 chr17 55005928 . C G 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.732166;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.361C>G;refseq.codingCoordStr_2=c.592C>G;refseq.codonCoord_1=121;refseq.codonCoord_2=198;refseq.end_1=55005928;refseq.end_2=55005928;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=508;refseq.mrnaCoord_2=739;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P121A;refseq.proteinCoordStr_2=p.P198A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=55005928;refseq.start_2=55005928;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap GT 1/0 chr17 55007567 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.395218;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.695C>T;refseq.codingCoordStr_2=c.926C>T;refseq.codonCoord_1=232;refseq.codonCoord_2=309;refseq.end_1=55007567;refseq.end_2=55007567;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=842;refseq.mrnaCoord_2=1073;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T232I;refseq.proteinCoordStr_2=p.T309I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=55007567;refseq.start_2=55007567;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr17 55007613 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431496;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.741A>T;refseq.codingCoordStr_2=c.972A>T;refseq.codonCoord_1=247;refseq.codonCoord_2=324;refseq.end_1=55007613;refseq.end_2=55007613;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=888;refseq.mrnaCoord_2=1119;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T247T;refseq.proteinCoordStr_2=p.T324T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=55007613;refseq.start_2=55007613;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=soap GT 0/1 chr17 55009437 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0103365;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.771A>G;refseq.codingCoordStr_2=c.1002A>G;refseq.codonCoord_1=257;refseq.codonCoord_2=334;refseq.end_1=55009437;refseq.end_2=55009437;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=918;refseq.mrnaCoord_2=1149;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P257P;refseq.proteinCoordStr_2=p.P334P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=55009437;refseq.start_2=55009437;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=soap GT 0/1 chr17 55009505 . T C 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.839T>C;refseq.codingCoordStr_2=c.1070T>C;refseq.codonCoord_1=280;refseq.codonCoord_2=357;refseq.end_1=55009505;refseq.end_2=55009505;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=986;refseq.mrnaCoord_2=1217;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I280T;refseq.proteinCoordStr_2=p.I357T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=55009505;refseq.start_2=55009505;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 1/0 chr17 55011636 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.347388;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.864C>T;refseq.codingCoordStr_2=c.1095C>T;refseq.codonCoord_1=288;refseq.codonCoord_2=365;refseq.end_1=55011636;refseq.end_2=55011636;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=1242;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F288F;refseq.proteinCoordStr_2=p.F365F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=55011636;refseq.start_2=55011636;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=soap GT 0/1 chr17 55018378 . T G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.750000;SecondBestBaseQ=19;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1193+2;refseq.codingCoordStr_2=c.1424+2;refseq.end_1=55018378;refseq.end_2=55018378;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=55018378;refseq.start_2=55018378;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr17 55020142 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.411894;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1297C>T;refseq.codingCoordStr_2=c.1528C>T;refseq.codonCoord_1=433;refseq.codonCoord_2=510;refseq.end_1=55020142;refseq.end_2=55020142;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1444;refseq.mrnaCoord_2=1675;refseq.name2_1=DHX40;refseq.name2_2=DHX40;refseq.name_1=NM_001166301;refseq.name_2=NM_024612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L433L;refseq.proteinCoordStr_2=p.L510L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=55020142;refseq.start_2=55020142;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=soap GT 0/1 chr17 55306755 . G A 314.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=9.16;MQ=98.76;MQ0=0;OQ=2797.70;QD=17.06;RankSumP=0.398773;SB=-1163.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.861C>T;refseq.codonCoord=287;refseq.end=55306755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_016261;refseq.name2=TUBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y287Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-74;refseq.start=55306755;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr17 55318319 . A G 93.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=98.91;MQ0=0;OQ=6593.24;QD=37.25;RankSumP=0.146515;SB=-1114.04;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.227T>C;refseq.codonCoord=76;refseq.end=55318319;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=505;refseq.name=NM_016261;refseq.name2=TUBD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M76T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=55;refseq.start=55318319;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 0/1 chr17 55367377 . A C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0291845;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.912A>C;refseq.codonCoord=304;refseq.end=55367377;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_003161;refseq.name2=RPS6KB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K304N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=42;refseq.start=55367377;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr17 55373051 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0261861;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1192T>G;refseq.codonCoord=398;refseq.end=55373051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_003161;refseq.name2=RPS6KB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S398A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-36;refseq.start=55373051;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr17 55373067 . G C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.303387;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1208G>C;refseq.codonCoord=403;refseq.end=55373067;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_003161;refseq.name2=RPS6KB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S403T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-20;refseq.start=55373067;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 0/1 chr17 55386194 . A G 154.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=40.18;MQ0=24;OQ=4235.87;QD=33.09;RankSumP=1.00000;SB=-512.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1167T>C;refseq.codonCoord=389;refseq.end=55386194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1260;refseq.name=NM_016125;refseq.name2=RNFT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I389I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=55386194;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 55489224 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=343;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.77;MQ0=0;OQ=7474.17;QD=21.79;RankSumP=0.496590;SB=-2245.79;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2046C>T;refseq.codonCoord=682;refseq.end=55489224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2063;refseq.name=NM_022070;refseq.name2=HEATR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y682Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-34;refseq.start=55489224;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr17 55498442 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=3.09231e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1326C>A;refseq.codonCoord=442;refseq.end=55498442;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_022070;refseq.name2=HEATR6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y442*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=88;refseq.start=55498442;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr17 55617608 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.0199966;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3829A>T;refseq.codonCoord=1277;refseq.end=55617608;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4115;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1277F;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=55617608;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 1/0 chr17 55617686 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.467861;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3751A>G;refseq.codonCoord=1251;refseq.end=55617686;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4037;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1251D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-84;refseq.start=55617686;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr17 55643178 . T C 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=340;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=11.27;MQ0=324;OQ=257.52;QD=0.76;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2402A>G;refseq.codonCoord=801;refseq.end=55643178;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2688;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N801S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-23;refseq.start=55643178;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/1 chr17 55643198 . A G 16 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=423;Dels=0.00;HRun=0;HaplotypeScore=19.24;MQ=13.70;MQ0=376;OQ=322.35;QD=0.76;RankSumP=1.00000;SB=32.14;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2382T>C;refseq.codonCoord=794;refseq.end=55643198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2668;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.L794L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-43;refseq.start=55643198;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/1 chr17 55643623 . A G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.120456;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2214T>C;refseq.codonCoord=738;refseq.end=55643623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2500;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.N738N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=35;refseq.start=55643623;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr17 55644171 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2175C>A;refseq.codonCoord=725;refseq.end=55644171;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2461;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.H725Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=55644171;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=soap GT 0/1 chr17 55644199 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.327545;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2147T>C;refseq.codonCoord=716;refseq.end=55644199;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2433;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.I716T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-33;refseq.start=55644199;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr17 55644238 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.513802;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2108G>A;refseq.codonCoord=703;refseq.end=55644238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2394;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.R703H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=55644238;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr17 55646807 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1978C>G;refseq.codonCoord=660;refseq.end=55646807;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2264;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.R660G;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-45;refseq.start=55646807;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr17 55646808 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1977G>C;refseq.codonCoord=659;refseq.end=55646808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2263;refseq.name=NM_032582;refseq.name2=USP32;refseq.positionType=CDS;refseq.proteinCoordStr=p.L659L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-46;refseq.start=55646808;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr17 55861628 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.553T>G;refseq.codonCoord=185;refseq.end=55861628;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_181707;refseq.name2=C17orf64;refseq.positionType=CDS;refseq.proteinCoordStr=p.S185A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-73;refseq.start=55861628;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr17 56141407 . A G 289.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=8.58;MQ=98.89;MQ0=0;OQ=11316.12;QD=40.41;RankSumP=1.00000;SB=-3758.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.260A>G;refseq.codingCoordStr_2=c.260A>G;refseq.codonCoord_1=87;refseq.codonCoord_2=87;refseq.end_1=56141407;refseq.end_2=56141407;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=369;refseq.mrnaCoord_2=369;refseq.name2_1=BCAS3;refseq.name2_2=BCAS3;refseq.name_1=NM_001099432;refseq.name_2=NM_017679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N87S;refseq.proteinCoordStr_2=p.N87S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=56141407;refseq.start_2=56141407;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr17 56179349 . T C 247.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=613;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.72;MQ0=0;OQ=23896.34;QD=38.98;RankSumP=1.00000;SB=-6752.28;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.330T>C;refseq.codingCoordStr_2=c.330T>C;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=56179349;refseq.end_2=56179349;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=439;refseq.mrnaCoord_2=439;refseq.name2_1=BCAS3;refseq.name2_2=BCAS3;refseq.name_1=NM_001099432;refseq.name_2=NM_017679;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G110G;refseq.proteinCoordStr_2=p.G110G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=56179349;refseq.start_2=56179349;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr17 56834005 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.574A>G;refseq.codonCoord=192;refseq.end=56834005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_005994;refseq.name2=TBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S192G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-90;refseq.start=56834005;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr17 56840337 . C T 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=98.93;MQ0=0;OQ=2120.67;QD=27.19;RankSumP=1.00000;SB=-762.63;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1827C>T;refseq.codonCoord=609;refseq.end=56840337;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2108;refseq.name=NM_005994;refseq.name2=TBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S609S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=141;refseq.start=56840337;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr17 56844675 . T C 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=9;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.34;MQ0=0;OQ=253.39;QD=28.15;RankSumP=1.00000;SB=-93.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.557T>C;refseq.codonCoord=186;refseq.end=56844675;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_203425;refseq.name2=C17orf82;refseq.positionType=CDS;refseq.proteinCoordStr=p.L186P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-749;refseq.start=56844675;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/1 chr17 57022735 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=741;Dels=0.00;HRun=0;HaplotypeScore=9.49;MQ=96.66;MQ0=0;OQ=15711.24;QD=21.20;RankSumP=0.475280;SB=-5195.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.589C>T;refseq.codonCoord=197;refseq.end=57022735;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_199290;refseq.name2=NACA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R197*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-160;refseq.start=57022735;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chr17 57022803 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=928;Dels=0.00;HRun=0;HaplotypeScore=28.30;MQ=96.65;MQ0=2;OQ=21768.73;QD=23.46;RankSumP=0.420934;SB=-9493.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.521C>G;refseq.codonCoord=174;refseq.end=57022803;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=543;refseq.name=NM_199290;refseq.name2=NACA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T174R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-228;refseq.start=57022803;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr17 57023134 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=534;Dels=0.00;HRun=1;HaplotypeScore=17.96;MQ=98.30;MQ0=0;OQ=11469.77;QD=21.48;RankSumP=0.441272;SB=-2759.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.190G>A;refseq.codonCoord=64;refseq.end=57023134;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_199290;refseq.name2=NACA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V64I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=212;refseq.start=57023134;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr17 57115778 . A G 440.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=98.92;MQ0=0;OQ=5960.95;QD=38.46;RankSumP=1.00000;SB=-2960.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3411T>C;refseq.codonCoord=1137;refseq.end=57115778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3552;refseq.name=NM_032043;refseq.name2=BRIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1137Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=506;refseq.start=57115778;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 57118129 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=2;HaplotypeScore=5.00;MQ=98.76;MQ0=0;OQ=15951.46;QD=41.65;RankSumP=1.00000;SB=-7240.62;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2755T>C;refseq.codonCoord=919;refseq.end=57118129;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2896;refseq.name=NM_032043;refseq.name2=BRIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S919P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-151;refseq.start=57118129;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr17 57118247 . T C 374.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=98.72;MQ0=0;OQ=5573.90;QD=35.28;RankSumP=1.00000;SB=-2720.43;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2637A>G;refseq.codonCoord=879;refseq.end=57118247;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2778;refseq.name=NM_032043;refseq.name2=BRIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E879E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=62;refseq.start=57118247;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr17 57398666 . G A 198.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=6.63;MQ=98.92;MQ0=0;OQ=19750.03;QD=42.38;RankSumP=1.00000;SB=-8833.79;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4320C>T;refseq.codonCoord=1440;refseq.end=57398666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4397;refseq.name=NM_005121;refseq.name2=MED13;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1440D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-62;refseq.start=57398666;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 58037235 . A G 159.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=89.43;MQ0=11;OQ=4708.98;QD=34.12;RankSumP=1.00000;SB=-782.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1776A>G;refseq.codingCoordStr_2=c.1872A>G;refseq.codonCoord_1=592;refseq.codonCoord_2=624;refseq.end_1=58037235;refseq.end_2=58037235;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2047;refseq.mrnaCoord_2=2143;refseq.name2_1=TLK2;refseq.name2_2=TLK2;refseq.name_1=NM_001112707;refseq.name_2=NM_006852;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P592P;refseq.proteinCoordStr_2=p.P624P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=58037235;refseq.start_2=58037235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr17 58097890 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.900G>T;refseq.codonCoord=300;refseq.end=58097890;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_006039;refseq.name2=MRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L300F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=41;refseq.start=58097890;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr17 58106921 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1608A>G;refseq.codonCoord=536;refseq.end=58106921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2010;refseq.name=NM_006039;refseq.name2=MRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G536G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=39;refseq.start=58106921;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 58112005 . G C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=13.20;MQ=98.63;MQ0=0;OQ=5259.37;QD=41.41;RankSumP=1.00000;SB=-2265.46;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2586G>C;refseq.codonCoord=862;refseq.end=58112005;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2988;refseq.name=NM_006039;refseq.name2=MRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S862S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-49;refseq.start=58112005;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 58119956 . A G 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=98.47;MQ0=0;OQ=2727.32;QD=29.33;RankSumP=1.00000;SB=-825.57;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3237A>G;refseq.codonCoord=1079;refseq.end=58119956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3639;refseq.name=NM_006039;refseq.name2=MRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1079A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=12;refseq.start=58119956;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr17 58120747 . G A 340.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.81;MQ0=0;OQ=1466.13;QD=35.76;RankSumP=1.00000;SB=-555.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3467G>A;refseq.codonCoord=1156;refseq.end=58120747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3869;refseq.name=NM_006039;refseq.name2=MRC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1156H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-107;refseq.start=58120747;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr17 58866329 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=73;Dels=0.00;HRun=3;HaplotypeScore=10.16;MQ=90.95;MQ0=0;OQ=83.79;QD=1.15;RankSumP=0.000165176;SB=71.25;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.413T>G;refseq.codingCoordStr_2=c.413T>G;refseq.codingCoordStr_3=c.413T>G;refseq.codonCoord_1=138;refseq.codonCoord_2=138;refseq.codonCoord_3=138;refseq.end_1=58866329;refseq.end_2=58866329;refseq.end_3=58866329;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=713;refseq.mrnaCoord_2=546;refseq.mrnaCoord_3=543;refseq.name2_1=CYB561;refseq.name2_2=CYB561;refseq.name2_3=CYB561;refseq.name_1=NM_001017916;refseq.name_2=NM_001017917;refseq.name_3=NM_001915;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V138G;refseq.proteinCoordStr_2=p.V138G;refseq.proteinCoordStr_3=p.V138G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=58866329;refseq.start_2=58866329;refseq.start_3=58866329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr17 58913655 . C T 446.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.94;MQ0=0;OQ=4404.86;QD=39.33;RankSumP=1.00000;SB=-2038.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1215C>T;refseq.codonCoord=405;refseq.end=58913655;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1237;refseq.name=NM_000789;refseq.name2=ACE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P405P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=97;refseq.start=58913655;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 58915628 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=94;Dels=0.00;HRun=0;HaplotypeScore=5.38;MQ=96.91;MQ0=0;OQ=1381.30;QD=14.69;RankSumP=0.310781;SB=-442.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1915G>A;refseq.codonCoord=639;refseq.end=58915628;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1937;refseq.name=NM_000789;refseq.name2=ACE;refseq.positionType=CDS;refseq.proteinCoordStr=p.G639S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=58915628;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr17 58917784 . A G 142.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=13.05;MQ=98.96;MQ0=0;OQ=9537.87;QD=37.70;RankSumP=1.00000;SB=-4143.45;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2193A>G;refseq.codingCoordStr_2=c.471A>G;refseq.codonCoord_1=731;refseq.codonCoord_2=157;refseq.end_1=58917784;refseq.end_2=58917784;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2215;refseq.mrnaCoord_2=523;refseq.name2_1=ACE;refseq.name2_2=ACE;refseq.name_1=NM_000789;refseq.name_2=NM_152830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A731A;refseq.proteinCoordStr_2=p.A157A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=58917784;refseq.start_2=58917784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 58919763 . G A 421.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.35;MQ0=0;OQ=7605.39;QD=40.89;RankSumP=1.00000;SB=-3091.54;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2328G>A;refseq.codingCoordStr_2=c.606G>A;refseq.codonCoord_1=776;refseq.codonCoord_2=202;refseq.end_1=58919763;refseq.end_2=58919763;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2350;refseq.mrnaCoord_2=658;refseq.name2_1=ACE;refseq.name2_2=ACE;refseq.name_1=NM_000789;refseq.name_2=NM_152830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T776T;refseq.proteinCoordStr_2=p.T202T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=58919763;refseq.start_2=58919763;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr17 58927493 . T C 363.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=99.00;MQ0=0;OQ=2305.31;QD=36.59;RankSumP=1.00000;SB=-521.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3387T>C;refseq.codingCoordStr_2=c.1665T>C;refseq.codonCoord_1=1129;refseq.codonCoord_2=555;refseq.end_1=58927493;refseq.end_2=58927493;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3409;refseq.mrnaCoord_2=1717;refseq.name2_1=ACE;refseq.name2_2=ACE;refseq.name_1=NM_000789;refseq.name_2=NM_152830;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F1129F;refseq.proteinCoordStr_2=p.F555F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=58927493;refseq.start_2=58927493;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr17 58961440 . T C 110.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.61;MQ0=0;OQ=683.13;QD=16.26;RankSumP=0.0230376;SB=-339.65;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.480T>C;refseq.codingCoordStr_2=c.480T>C;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.end_1=58961440;refseq.end_2=58961440;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=560;refseq.mrnaCoord_2=560;refseq.name2_1=KCNH6;refseq.name2_2=KCNH6;refseq.name_1=NM_030779;refseq.name_2=NM_173092;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H160H;refseq.proteinCoordStr_2=p.H160H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=58961440;refseq.start_2=58961440;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr17 58965155 . T C 185.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=96.67;MQ0=0;OQ=1676.89;QD=17.11;RankSumP=0.0494440;SB=-713.29;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.852T>C;refseq.codingCoordStr_2=c.852T>C;refseq.codonCoord_1=284;refseq.codonCoord_2=284;refseq.end_1=58965155;refseq.end_2=58965155;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=932;refseq.mrnaCoord_2=932;refseq.name2_1=KCNH6;refseq.name2_2=KCNH6;refseq.name_1=NM_030779;refseq.name_2=NM_173092;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D284D;refseq.proteinCoordStr_2=p.D284D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.start_1=58965155;refseq.start_2=58965155;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr17 58965301 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=5;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.998A>C;refseq.codingCoordStr_2=c.998A>C;refseq.codonCoord_1=333;refseq.codonCoord_2=333;refseq.end_1=58965301;refseq.end_2=58965301;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1078;refseq.name2_1=KCNH6;refseq.name2_2=KCNH6;refseq.name_1=NM_030779;refseq.name_2=NM_173092;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H333P;refseq.proteinCoordStr_2=p.H333P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.start_1=58965301;refseq.start_2=58965301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr17 58966811 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1151T>G;refseq.codingCoordStr_2=c.1151T>G;refseq.codonCoord_1=384;refseq.codonCoord_2=384;refseq.end_1=58966811;refseq.end_2=58966811;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1231;refseq.mrnaCoord_2=1231;refseq.name2_1=KCNH6;refseq.name2_2=KCNH6;refseq.name_1=NM_030779;refseq.name_2=NM_173092;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V384G;refseq.proteinCoordStr_2=p.V384G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=58966811;refseq.start_2=58966811;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 58967163 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1501+2;refseq.codingCoordStr_2=c.1342+2;refseq.end_1=58967163;refseq.end_2=58967163;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=KCNH6;refseq.name2_2=KCNH6;refseq.name_1=NM_030779;refseq.name_2=NM_173092;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=58967163;refseq.start_2=58967163;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr17 59129954 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.161T>G;refseq.codonCoord=54;refseq.end=59129954;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_030576;refseq.name2=LIMD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V54G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-64;refseq.start=59129954;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 59183102 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1301A>G;refseq.codonCoord=434;refseq.end=59183102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1637;refseq.name=NM_020198;refseq.name2=CCDC47;refseq.positionType=CDS;refseq.proteinCoordStr=p.E434G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-71;refseq.start=59183102;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 59192423 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.568G>A;refseq.codonCoord=190;refseq.end=59192423;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_020198;refseq.name2=CCDC47;refseq.positionType=CDS;refseq.proteinCoordStr=p.E190K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=21;refseq.start=59192423;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr17 59242193 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=2;HaplotypeScore=7.73;MQ=98.83;MQ0=0;OQ=3233.06;QD=18.69;RankSumP=0.0879169;SB=-874.32;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1326G>A;refseq.codingCoordStr_2=c.1326G>A;refseq.codonCoord_1=442;refseq.codonCoord_2=442;refseq.end_1=59242193;refseq.end_2=59242193;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1583;refseq.mrnaCoord_2=1512;refseq.name2_1=DDX42;refseq.name2_2=DDX42;refseq.name_1=NM_007372;refseq.name_2=NM_203499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R442R;refseq.proteinCoordStr_2=p.R442R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=59242193;refseq.start_2=59242193;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/0 chr17 59254929 . T A 313.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=334;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=98.70;MQ0=0;OQ=5416.68;QD=16.22;RankSumP=0.309436;SB=-1926.73;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1270A>T;refseq.codonCoord=424;refseq.end=59254929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1916;refseq.name=NM_017647;refseq.name2=FTSJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S424C;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-21;refseq.start=59254929;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr17 59257177 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=646;Dels=0.00;HRun=1;HaplotypeScore=7.77;MQ=98.95;MQ0=0;OQ=11939.28;QD=18.48;RankSumP=0.161363;SB=-4950.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.271C>G;refseq.codonCoord=91;refseq.end=59257177;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_017647;refseq.name2=FTSJ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q91E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-30;refseq.start=59257177;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 59262003 . C T 129.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.64;MQ0=0;OQ=5916.01;QD=21.91;RankSumP=0.229969;SB=-2222.63;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.655C>T;refseq.codonCoord=219;refseq.end=59262003;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_002805;refseq.name2=PSMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L219L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-25;refseq.start=59262003;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr17 59262227 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=6;RankSumP=1.42308e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.779A>G;refseq.codonCoord=260;refseq.end=59262227;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_002805;refseq.name2=PSMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E260G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-92;refseq.start=59262227;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 59262288 . C T 204.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=98.75;MQ0=0;OQ=1967.58;QD=14.91;RankSumP=0.486689;SB=-989.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.840C>T;refseq.codonCoord=280;refseq.end=59262288;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_002805;refseq.name2=PSMC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L280L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-31;refseq.start=59262288;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr17 59303679 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=430;Dels=0.00;HRun=0;HaplotypeScore=10.50;MQ=42.48;MQ0=204;OQ=3115.64;QD=7.25;RankSumP=0.0972975;SB=-1385.80;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.446C>T;refseq.codingCoordStr_3=c.446C>T;refseq.codonCoord_2=149;refseq.codonCoord_3=149;refseq.end_1=59304260;refseq.end_2=59303679;refseq.end_3=59303679;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=561;refseq.mrnaCoord_3=561;refseq.name2_1=CSH2;refseq.name2_2=CSH2;refseq.name2_3=CSH2;refseq.name_1=NM_022645;refseq.name_2=NM_020991;refseq.name_3=NM_022644;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T149M;refseq.proteinCoordStr_3=p.T149M;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_2=-11;refseq.spliceDist_3=155;refseq.start_1=59303426;refseq.start_2=59303679;refseq.start_3=59303679;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/0 chr17 59341302 . G T 128.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=4.64;MQ=80.70;MQ0=27;OQ=5195.95;QD=14.97;RankSumP=0.241725;SB=-1613.42;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.141C>A;refseq.codingCoordStr_2=c.423C>A;refseq.codingCoordStr_3=c.174C>A;refseq.codingCoordStr_4=c.354C>A;refseq.codonCoord_1=47;refseq.codonCoord_2=141;refseq.codonCoord_3=58;refseq.codonCoord_4=118;refseq.end_1=59341302;refseq.end_2=59341302;refseq.end_3=59341302;refseq.end_4=59341302;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=309;refseq.mrnaCoord_2=485;refseq.mrnaCoord_3=236;refseq.mrnaCoord_4=416;refseq.name2_1=CSHL1;refseq.name2_2=CSHL1;refseq.name2_3=CSHL1;refseq.name2_4=CSHL1;refseq.name_1=NM_001318;refseq.name_2=NM_022579;refseq.name_3=NM_022580;refseq.name_4=NM_022581;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D47E;refseq.proteinCoordStr_2=p.D141E;refseq.proteinCoordStr_3=p.D58E;refseq.proteinCoordStr_4=p.D118E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.start_1=59341302;refseq.start_2=59341302;refseq.start_3=59341302;refseq.start_4=59341302;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 0/1 chr17 59341308 . G A 185.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=9.22;MQ=79.82;MQ0=27;OQ=5003.61;QD=15.30;RankSumP=0.486666;SB=-1615.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.135C>T;refseq.codingCoordStr_2=c.417C>T;refseq.codingCoordStr_3=c.168C>T;refseq.codingCoordStr_4=c.348C>T;refseq.codonCoord_1=45;refseq.codonCoord_2=139;refseq.codonCoord_3=56;refseq.codonCoord_4=116;refseq.end_1=59341308;refseq.end_2=59341308;refseq.end_3=59341308;refseq.end_4=59341308;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=303;refseq.mrnaCoord_2=479;refseq.mrnaCoord_3=230;refseq.mrnaCoord_4=410;refseq.name2_1=CSHL1;refseq.name2_2=CSHL1;refseq.name2_3=CSHL1;refseq.name2_4=CSHL1;refseq.name_1=NM_001318;refseq.name_2=NM_022579;refseq.name_3=NM_022580;refseq.name_4=NM_022581;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S45S;refseq.proteinCoordStr_2=p.S139S;refseq.proteinCoordStr_3=p.S56S;refseq.proteinCoordStr_4=p.S116S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.start_1=59341308;refseq.start_2=59341308;refseq.start_3=59341308;refseq.start_4=59341308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/0 chr17 59348967 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_3=c.341A>G;refseq.codingCoordStr_4=c.296A>G;refseq.codingCoordStr_5=c.221A>G;refseq.codonCoord_3=114;refseq.codonCoord_4=99;refseq.codonCoord_5=74;refseq.end_1=59349427;refseq.end_2=59349848;refseq.end_3=59348967;refseq.end_4=59348967;refseq.end_5=59348967;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=403;refseq.mrnaCoord_4=358;refseq.mrnaCoord_5=283;refseq.name2_1=GH1;refseq.name2_2=GH1;refseq.name2_3=GH1;refseq.name2_4=GH1;refseq.name2_5=GH1;refseq.name_1=NM_022561;refseq.name_2=NM_022562;refseq.name_3=NM_000515;refseq.name_4=NM_022559;refseq.name_5=NM_022560;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.E114G;refseq.proteinCoordStr_4=p.E99G;refseq.proteinCoordStr_5=p.E74G;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.spliceDist_5=50;refseq.start_1=59348609;refseq.start_2=59348609;refseq.start_3=59348967;refseq.start_4=59348967;refseq.start_5=59348967;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr17 59361230 . A G 120.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=2.23;MQ=98.90;MQ0=0;OQ=1946.64;QD=13.43;RankSumP=0.215098;SB=-672.80;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.366T>C;refseq.codingCoordStr_3=c.369T>C;refseq.codonCoord_2=122;refseq.codonCoord_3=123;refseq.end_1=59362416;refseq.end_2=59361230;refseq.end_3=59361230;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=449;refseq.mrnaCoord_3=452;refseq.name2_1=CD79B;refseq.name2_2=CD79B;refseq.name2_3=CD79B;refseq.name_1=NM_021602;refseq.name_2=NM_000626;refseq.name_3=NM_001039933;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.C122C;refseq.proteinCoordStr_3=p.C123C;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=59360991;refseq.start_2=59361230;refseq.start_3=59361230;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr17 59434833 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.552C>G;refseq.codingCoordStr_2=c.552C>G;refseq.codingCoordStr_3=c.552C>G;refseq.codingCoordStr_4=c.552C>G;refseq.codingCoordStr_5=c.552C>G;refseq.codingCoordStr_6=c.*1980G>C;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.codonCoord_3=184;refseq.codonCoord_4=184;refseq.codonCoord_5=184;refseq.end_1=59434833;refseq.end_2=59434833;refseq.end_3=59434833;refseq.end_4=59434833;refseq.end_5=59434833;refseq.end_6=59434833;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=false;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=907;refseq.mrnaCoord_3=825;refseq.mrnaCoord_4=790;refseq.mrnaCoord_5=708;refseq.mrnaCoord_6=2564;refseq.name2_1=ICAM2;refseq.name2_2=ICAM2;refseq.name2_3=ICAM2;refseq.name2_4=ICAM2;refseq.name2_5=ICAM2;refseq.name2_6=C17orf72;refseq.name_1=NM_000873;refseq.name_2=NM_001099786;refseq.name_3=NM_001099787;refseq.name_4=NM_001099788;refseq.name_5=NM_001099789;refseq.name_6=NM_001164257;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=utr3;refseq.proteinCoordStr_1=p.G184G;refseq.proteinCoordStr_2=p.G184G;refseq.proteinCoordStr_3=p.G184G;refseq.proteinCoordStr_4=p.G184G;refseq.proteinCoordStr_5=p.G184G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.spliceDist_3=-98;refseq.spliceDist_4=-98;refseq.spliceDist_5=-98;refseq.spliceDist_6=-542;refseq.start_1=59434833;refseq.start_2=59434833;refseq.start_3=59434833;refseq.start_4=59434833;refseq.start_5=59434833;refseq.start_6=59434833;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 0/1 chr17 59434871 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.514A>C;refseq.codingCoordStr_2=c.514A>C;refseq.codingCoordStr_3=c.514A>C;refseq.codingCoordStr_4=c.514A>C;refseq.codingCoordStr_5=c.514A>C;refseq.codingCoordStr_6=c.*2018T>G;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.codonCoord_3=172;refseq.codonCoord_4=172;refseq.codonCoord_5=172;refseq.end_1=59434871;refseq.end_2=59434871;refseq.end_3=59434871;refseq.end_4=59434871;refseq.end_5=59434871;refseq.end_6=59434871;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=false;refseq.mrnaCoord_1=746;refseq.mrnaCoord_2=869;refseq.mrnaCoord_3=787;refseq.mrnaCoord_4=752;refseq.mrnaCoord_5=670;refseq.mrnaCoord_6=2602;refseq.name2_1=ICAM2;refseq.name2_2=ICAM2;refseq.name2_3=ICAM2;refseq.name2_4=ICAM2;refseq.name2_5=ICAM2;refseq.name2_6=C17orf72;refseq.name_1=NM_000873;refseq.name_2=NM_001099786;refseq.name_3=NM_001099787;refseq.name_4=NM_001099788;refseq.name_5=NM_001099789;refseq.name_6=NM_001164257;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=utr3;refseq.proteinCoordStr_1=p.T172P;refseq.proteinCoordStr_2=p.T172P;refseq.proteinCoordStr_3=p.T172P;refseq.proteinCoordStr_4=p.T172P;refseq.proteinCoordStr_5=p.T172P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=-136;refseq.spliceDist_2=-136;refseq.spliceDist_3=-136;refseq.spliceDist_4=-136;refseq.spliceDist_5=-136;refseq.spliceDist_6=-504;refseq.start_1=59434871;refseq.start_2=59434871;refseq.start_3=59434871;refseq.start_4=59434871;refseq.start_5=59434871;refseq.start_6=59434871;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=FilteredInAll GT 1/0 chr17 60281190 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=3;RankSumP=6.30598e-07;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4894G>C;refseq.codonCoord=1632;refseq.end=60281190;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5425;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1632P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=35;refseq.start=60281190;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 60282467 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.325061;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4812C>A;refseq.codonCoord=1604;refseq.end=60282467;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5343;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1604I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=60282467;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=soap GT 0/1 chr17 60286083 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.500000;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4643C>T;refseq.codonCoord=1548;refseq.end=60286083;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5174;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1548I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-62;refseq.start=60286083;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr17 60286114 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.151848;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4612A>G;refseq.codonCoord=1538;refseq.end=60286114;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5143;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1538E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-93;refseq.start=60286114;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr17 60286524 . A T 76 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00113184;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4202T>A;refseq.codonCoord=1401;refseq.end=60286524;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4733;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1401D;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-503;refseq.start=60286524;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr17 60286616 . A G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.291532;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4110T>C;refseq.codonCoord=1370;refseq.end=60286616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4641;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1370N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-595;refseq.start=60286616;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr17 60286639 . T C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.229303;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4087A>G;refseq.codonCoord=1363;refseq.end=60286639;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4618;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1363G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-618;refseq.start=60286639;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr17 60286747 . C A 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.430406;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3979G>T;refseq.codonCoord=1327;refseq.end=60286747;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4510;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1327F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-726;refseq.start=60286747;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 1/0 chr17 60295707 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.289127;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2946A>G;refseq.codonCoord=982;refseq.end=60295707;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3477;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P982P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-33;refseq.start=60295707;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 1/0 chr17 60319129 . T C 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2661A>G;refseq.codonCoord=887;refseq.end=60319129;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3192;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A887A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-21;refseq.start=60319129;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/1 chr17 60319130 . G A 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2660C>T;refseq.codonCoord=887;refseq.end=60319130;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3191;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A887V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=60319130;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 1/1 chr17 60322451 . G A 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1387C>T;refseq.codonCoord=463;refseq.end=60322451;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1918;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P463S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-1223;refseq.start=60322451;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/1 chr17 60322493 . C T 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1345G>A;refseq.codonCoord=449;refseq.end=60322493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1876;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V449I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-1265;refseq.start=60322493;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 1/1 chr17 60322533 . G C 15.75 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=874;Dels=0.00;HRun=0;HaplotypeScore=18.60;MQ=0.85;MQ0=873;QD=0.02;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1305C>G;refseq.codonCoord=435;refseq.end=60322533;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1836;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H435Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1305;refseq.start=60322533;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 0/1 chr17 60322621 . G T 41.81 BadSOAPSNP;ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=954;Dels=0.00;HRun=0;HaplotypeScore=21.48;MQ=3.29;MQ0=952;QD=0.04;RankSumP=0.250000;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1217C>A;refseq.codonCoord=406;refseq.end=60322621;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1748;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A406D;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-1393;refseq.start=60322621;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr17 60322733 . A T 4 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=2411;Dels=0.00;HRun=0;HaplotypeScore=55.56;MQ=21.36;MQ0=565;OQ=36467.93;QD=15.13;RankSumP=1.00000;SB=-13831.47;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1105T>A;refseq.codonCoord=369;refseq.end=60322733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_199340;refseq.name2=LRRC37A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S369T;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=1502;refseq.start=60322733;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/1 chr17 60586853 . C A 29.62 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=143;Dels=0.00;HRun=1;HaplotypeScore=33.51;MQ=97.52;MQ0=0;QD=0.21;RankSumP=2.58302e-08;SB=170.54;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.246C>A;refseq.codingCoordStr_2=c.246C>A;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.end_1=60586853;refseq.end_2=60586853;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=449;refseq.mrnaCoord_2=449;refseq.name2_1=RGS9;refseq.name2_2=RGS9;refseq.name_1=NM_001081955;refseq.name_2=NM_003835;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y82*;refseq.proteinCoordStr_2=p.Y82*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=60586853;refseq.start_2=60586853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr17 60594848 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.569T>G;refseq.codingCoordStr_2=c.569T>G;refseq.codonCoord_1=190;refseq.codonCoord_2=190;refseq.end_1=60594848;refseq.end_2=60594848;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=772;refseq.mrnaCoord_2=772;refseq.name2_1=RGS9;refseq.name2_2=RGS9;refseq.name_1=NM_001081955;refseq.name_2=NM_003835;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V190G;refseq.proteinCoordStr_2=p.V190G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=60594848;refseq.start_2=60594848;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 60962979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=3.13;MQ=98.77;MQ0=0;OQ=1300.38;QD=17.57;RankSumP=0.0385451;SB=-428.77;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2062C>T;refseq.codonCoord=688;refseq.end=60962979;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2351;refseq.name=NM_004655;refseq.name2=AXIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L688L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-80;refseq.start=60962979;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr17 60964230 . G A 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=86.62;MQ0=0;OQ=134.88;QD=22.48;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1386C>T;refseq.codonCoord=462;refseq.end=60964230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1675;refseq.name=NM_004655;refseq.name2=AXIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P462P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=186;refseq.start=60964230;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/1 chr17 60964251 . T C 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=86.62;MQ0=0;OQ=153.94;QD=25.66;RankSumP=1.00000;SB=-50.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1365A>G;refseq.codonCoord=455;refseq.end=60964251;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_004655;refseq.name2=AXIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P455P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=165;refseq.start=60964251;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr17 60985053 . G A 352.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.70;MQ0=0;OQ=4598.25;QD=20.26;RankSumP=0.408742;SB=-1644.96;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.148C>T;refseq.codonCoord=50;refseq.end=60985053;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_004655;refseq.name2=AXIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P50S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=264;refseq.start=60985053;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr17 61169751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.272A>C;refseq.codingCoordStr_2=c.2504A>C;refseq.codonCoord_1=91;refseq.codonCoord_2=835;refseq.end_1=61169751;refseq.end_2=61169751;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=516;refseq.mrnaCoord_2=2723;refseq.name2_1=CCDC46;refseq.name2_2=CCDC46;refseq.name_1=NM_001037325;refseq.name_2=NM_145036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N91T;refseq.proteinCoordStr_2=p.N835T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=61169751;refseq.start_2=61169751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr17 61454086 . T C 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.21;MQ0=0;OQ=70.40;QD=6.40;RankSumP=0.666667;SB=-42.92;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1651A>G;refseq.codonCoord=551;refseq.end=61454086;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1870;refseq.name=NM_145036;refseq.name2=CCDC46;refseq.positionType=CDS;refseq.proteinCoordStr=p.K551E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=61454086;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr17 61454104 . A G 164.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.59;MQ0=0;OQ=263.33;QD=18.81;RankSumP=0.708236;SB=-120.84;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1633T>C;refseq.codonCoord=545;refseq.end=61454104;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1852;refseq.name=NM_145036;refseq.name2=CCDC46;refseq.positionType=CDS;refseq.proteinCoordStr=p.L545L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-24;refseq.start=61454104;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr17 61455793 . A G 277.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=98.74;MQ0=0;OQ=2622.01;QD=16.70;RankSumP=0.138078;SB=-717.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1413T>C;refseq.codonCoord=471;refseq.end=61455793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1632;refseq.name=NM_145036;refseq.name2=CCDC46;refseq.positionType=CDS;refseq.proteinCoordStr=p.N471N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=40;refseq.start=61455793;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr17 62115540 . G A 459.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.91;MQ0=0;OQ=8509.32;QD=41.11;RankSumP=1.00000;SB=-2063.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.831G>A;refseq.codonCoord=277;refseq.end=62115540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_002737;refseq.name2=PRKCA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L277L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=62115540;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr17 62213543 . G A 364.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.91;MQ0=0;OQ=8693.16;QD=41.01;RankSumP=1.00000;SB=-4009.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1702G>A;refseq.codonCoord=568;refseq.end=62213543;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1746;refseq.name=NM_002737;refseq.name2=PRKCA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V568I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-12;refseq.start=62213543;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 62311537 . A G 124.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=10.94;MQ=98.99;MQ0=0;OQ=2826.88;QD=12.51;RankSumP=0.325750;SB=-1149.27;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.867A>G;refseq.codonCoord_2=289;refseq.end_1=62311551;refseq.end_2=62311537;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=867;refseq.name2_1=CACNG5;refseq.name2_2=CACNG5;refseq.name_1=NM_145811;refseq.name_2=NM_014404;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P289P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=-25;refseq.start_1=62311251;refseq.start_2=62311537;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr17 62451525 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.392A>C;refseq.codonCoord=131;refseq.end=62451525;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_014405;refseq.name2=CACNG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y131S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-54;refseq.start=62451525;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr17 62457148 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.550T>G;refseq.codonCoord=184;refseq.end=62457148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_014405;refseq.name2=CACNG4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S184A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=105;refseq.start=62457148;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr17 62482766 . G A 331.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=98.62;MQ0=0;OQ=6843.58;QD=18.45;RankSumP=0.00641410;SB=-2788.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.586G>A;refseq.codonCoord=196;refseq.end=62482766;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_000727;refseq.name2=CACNG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G196S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=144;refseq.start=62482766;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/0 chr17 62534105 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4883G>T;refseq.codonCoord=1628;refseq.end=62534105;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5070;refseq.name=NM_014877;refseq.name2=HELZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1628I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=159;refseq.start=62534105;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr17 62535128 . T G 166.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=7.89;MQ=97.26;MQ0=0;OQ=1840.34;QD=33.46;RankSumP=1.00000;SB=-945.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4666A>C;refseq.codonCoord=1556;refseq.end=62535128;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4853;refseq.name=NM_014877;refseq.name2=HELZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1556R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-59;refseq.start=62535128;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 62535205 . G A 189.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=8.09;MQ=97.67;MQ0=0;OQ=5419.51;QD=34.96;RankSumP=1.00000;SB=-1969.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.4589C>T;refseq.codonCoord=1530;refseq.end=62535205;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4776;refseq.name=NM_014877;refseq.name2=HELZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1530V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=100;refseq.start=62535205;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr17 62547050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3771A>C;refseq.codonCoord=1257;refseq.end=62547050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3958;refseq.name=NM_014877;refseq.name2=HELZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1257P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-68;refseq.start=62547050;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 62642504 . C T 378.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1632.41;QD=39.81;RankSumP=1.00000;SB=-698.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.220G>A;refseq.codonCoord=74;refseq.end=62642504;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_014877;refseq.name2=HELZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V74M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=62642504;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr17 63170089 . A G 165.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.60;MQ0=0;OQ=11111.02;QD=36.07;RankSumP=1.00000;SB=-4989.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1968A>G;refseq.codonCoord=656;refseq.end=63170089;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_015462;refseq.name2=NOL11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A656A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=33;refseq.start=63170089;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr17 63320290 . T C 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.415708;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2776T>C;refseq.codingCoordStr_2=c.2398T>C;refseq.codonCoord_1=926;refseq.codonCoord_2=800;refseq.end_1=63320290;refseq.end_2=63320290;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2837;refseq.mrnaCoord_2=2459;refseq.name2_1=BPTF;refseq.name2_2=BPTF;refseq.name_1=NM_004459;refseq.name_2=NM_182641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W926R;refseq.proteinCoordStr_2=p.W800R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=63320290;refseq.start_2=63320290;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=soap GT 1/0 chr17 63331327 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.82737e-08;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3099T>G;refseq.codingCoordStr_2=c.2721T>G;refseq.codonCoord_1=1033;refseq.codonCoord_2=907;refseq.end_1=63331327;refseq.end_2=63331327;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3160;refseq.mrnaCoord_2=2782;refseq.name2_1=BPTF;refseq.name2_2=BPTF;refseq.name_1=NM_004459;refseq.name_2=NM_182641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1033G;refseq.proteinCoordStr_2=p.G907G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=63331327;refseq.start_2=63331327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 63372046 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.7138A>C;refseq.codingCoordStr_2=c.6760A>C;refseq.codonCoord_1=2380;refseq.codonCoord_2=2254;refseq.end_1=63372046;refseq.end_2=63372046;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7199;refseq.mrnaCoord_2=6821;refseq.name2_1=BPTF;refseq.name2_2=BPTF;refseq.name_1=NM_004459;refseq.name_2=NM_182641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2380P;refseq.proteinCoordStr_2=p.T2254P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=63372046;refseq.start_2=63372046;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr17 63419510 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=3;HaplotypeScore=2.48;MQ=97.29;MQ0=0;OQ=8629.60;QD=39.59;RankSumP=1.00000;SB=-2135.08;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.215A>G;refseq.codonCoord_2=72;refseq.end_1=63419611;refseq.end_2=63419510;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=530;refseq.name2_1=C17orf58;refseq.name2_2=C17orf58;refseq.name_1=NM_181655;refseq.name_2=NM_181656;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E72G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-32;refseq.start_1=63418692;refseq.start_2=63419510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=Intersection GT 1/1 chr17 63470578 . G A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.433133;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1093G>A;refseq.codonCoord=365;refseq.end=63470578;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1225;refseq.name=NM_002266;refseq.name2=KPNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G365S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-72;refseq.start=63470578;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr17 63470637 . T C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.273504;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1152T>C;refseq.codonCoord=384;refseq.end=63470637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1284;refseq.name=NM_002266;refseq.name2=KPNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S384S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-13;refseq.start=63470637;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr17 63470639 . T A 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.344026;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1154T>A;refseq.codonCoord=385;refseq.end=63470639;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1286;refseq.name=NM_002266;refseq.name2=KPNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V385D;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-11;refseq.start=63470639;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr17 63473105 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.123048;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1521A>G;refseq.codonCoord=507;refseq.end=63473105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1653;refseq.name=NM_002266;refseq.name2=KPNA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V507V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=24;refseq.start=63473105;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 0/1 chr17 63758011 . A G 321.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=2.28;MQ=98.65;MQ0=0;OQ=4435.55;QD=18.18;RankSumP=0.152917;SB=-1223.21;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.88A>G;refseq.codingCoordStr_2=c.88A>G;refseq.codingCoordStr_3=c.88A>G;refseq.codingCoordStr_4=c.88A>G;refseq.codingCoordStr_5=c.88A>G;refseq.codingCoordStr_6=c.88A>G;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.codonCoord_3=30;refseq.codonCoord_4=30;refseq.codonCoord_5=30;refseq.codonCoord_6=30;refseq.end_1=63758011;refseq.end_2=63758011;refseq.end_3=63758011;refseq.end_4=63758011;refseq.end_5=63758011;refseq.end_6=63758011;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=237;refseq.mrnaCoord_2=233;refseq.mrnaCoord_3=209;refseq.mrnaCoord_4=205;refseq.mrnaCoord_5=790;refseq.mrnaCoord_6=790;refseq.name2_1=AMZ2;refseq.name2_2=AMZ2;refseq.name2_3=AMZ2;refseq.name2_4=AMZ2;refseq.name2_5=AMZ2;refseq.name2_6=AMZ2;refseq.name_1=NM_001033569;refseq.name_2=NM_001033570;refseq.name_3=NM_001033571;refseq.name_4=NM_001033572;refseq.name_5=NM_001033574;refseq.name_6=NM_016627;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.N30D;refseq.proteinCoordStr_2=p.N30D;refseq.proteinCoordStr_3=p.N30D;refseq.proteinCoordStr_4=p.N30D;refseq.proteinCoordStr_5=p.N30D;refseq.proteinCoordStr_6=p.N30D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceAA_6=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAT;refseq.referenceCodon_5=AAT;refseq.referenceCodon_6=AAT;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=88;refseq.spliceDist_4=88;refseq.spliceDist_5=88;refseq.spliceDist_6=88;refseq.start_1=63758011;refseq.start_2=63758011;refseq.start_3=63758011;refseq.start_4=63758011;refseq.start_5=63758011;refseq.start_6=63758011;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;set=Intersection GT 0/1 chr17 63758876 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.389484;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.548C>T;refseq.codingCoordStr_2=c.548C>T;refseq.codingCoordStr_3=c.548C>T;refseq.codingCoordStr_4=c.548C>T;refseq.codingCoordStr_5=c.374C>T;refseq.codingCoordStr_6=c.548C>T;refseq.codonCoord_1=183;refseq.codonCoord_2=183;refseq.codonCoord_3=183;refseq.codonCoord_4=183;refseq.codonCoord_5=125;refseq.codonCoord_6=183;refseq.end_1=63758876;refseq.end_2=63758876;refseq.end_3=63758876;refseq.end_4=63758876;refseq.end_5=63758876;refseq.end_6=63758876;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=697;refseq.mrnaCoord_2=693;refseq.mrnaCoord_3=669;refseq.mrnaCoord_4=665;refseq.mrnaCoord_5=1076;refseq.mrnaCoord_6=1250;refseq.name2_1=AMZ2;refseq.name2_2=AMZ2;refseq.name2_3=AMZ2;refseq.name2_4=AMZ2;refseq.name2_5=AMZ2;refseq.name2_6=AMZ2;refseq.name_1=NM_001033569;refseq.name_2=NM_001033570;refseq.name_3=NM_001033571;refseq.name_4=NM_001033572;refseq.name_5=NM_001033574;refseq.name_6=NM_016627;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.S183L;refseq.proteinCoordStr_2=p.S183L;refseq.proteinCoordStr_3=p.S183L;refseq.proteinCoordStr_4=p.S183L;refseq.proteinCoordStr_5=p.S125L;refseq.proteinCoordStr_6=p.S183L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.referenceCodon_6=TCG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.spliceDist_5=-39;refseq.spliceDist_6=-39;refseq.start_1=63758876;refseq.start_2=63758876;refseq.start_3=63758876;refseq.start_4=63758876;refseq.start_5=63758876;refseq.start_6=63758876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;refseq.variantCodon_5=TTG;refseq.variantCodon_6=TTG;set=soap GT 0/1 chr17 63764690 . T A 237.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=90.74;MQ0=0;OQ=6382.03;QD=23.04;RankSumP=0.211267;SB=-2576.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.codingCoordStr_1=c.1068T>A;refseq.codingCoordStr_2=c.1068T>A;refseq.codingCoordStr_3=c.1068T>A;refseq.codingCoordStr_4=c.1068T>A;refseq.codingCoordStr_5=c.894T>A;refseq.codingCoordStr_6=c.1068T>A;refseq.codonCoord_1=356;refseq.codonCoord_2=356;refseq.codonCoord_3=356;refseq.codonCoord_4=356;refseq.codonCoord_5=298;refseq.codonCoord_6=356;refseq.end_1=63764690;refseq.end_2=63764690;refseq.end_3=63764690;refseq.end_4=63764690;refseq.end_5=63764690;refseq.end_6=63764690;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1217;refseq.mrnaCoord_2=1213;refseq.mrnaCoord_3=1189;refseq.mrnaCoord_4=1185;refseq.mrnaCoord_5=1596;refseq.mrnaCoord_6=1770;refseq.name2_1=AMZ2;refseq.name2_2=AMZ2;refseq.name2_3=AMZ2;refseq.name2_4=AMZ2;refseq.name2_5=AMZ2;refseq.name2_6=AMZ2;refseq.name_1=NM_001033569;refseq.name_2=NM_001033570;refseq.name_3=NM_001033571;refseq.name_4=NM_001033572;refseq.name_5=NM_001033574;refseq.name_6=NM_016627;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.A356A;refseq.proteinCoordStr_2=p.A356A;refseq.proteinCoordStr_3=p.A356A;refseq.proteinCoordStr_4=p.A356A;refseq.proteinCoordStr_5=p.A298A;refseq.proteinCoordStr_6=p.A356A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.spliceDist_3=141;refseq.spliceDist_4=141;refseq.spliceDist_5=141;refseq.spliceDist_6=141;refseq.start_1=63764690;refseq.start_2=63764690;refseq.start_3=63764690;refseq.start_4=63764690;refseq.start_5=63764690;refseq.start_6=63764690;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;refseq.variantCodon_6=GCA;set=Intersection GT 1/0 chr17 63778576 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.256269;SecondBestBaseQ=24;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.1320A>G;refseq.codingCoordStr_3=c.1320A>G;refseq.codonCoord_2=440;refseq.codonCoord_3=440;refseq.end_1=63814668;refseq.end_2=63778576;refseq.end_3=63778576;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1633;refseq.mrnaCoord_3=1506;refseq.name2_1=ARSG;refseq.name2_2=SLC16A6;refseq.name2_3=SLC16A6;refseq.name_1=NM_014960;refseq.name_2=NM_001174166;refseq.name_3=NM_004694;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A440A;refseq.proteinCoordStr_3=p.A440A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=63767173;refseq.start_2=63778576;refseq.start_3=63778576;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=FilteredInAll GT 1/0 chr17 63778585 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.267252;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.1311G>A;refseq.codingCoordStr_3=c.1311G>A;refseq.codonCoord_2=437;refseq.codonCoord_3=437;refseq.end_1=63814668;refseq.end_2=63778585;refseq.end_3=63778585;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1624;refseq.mrnaCoord_3=1497;refseq.name2_1=ARSG;refseq.name2_2=SLC16A6;refseq.name2_3=SLC16A6;refseq.name_1=NM_014960;refseq.name_2=NM_001174166;refseq.name_3=NM_004694;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P437P;refseq.proteinCoordStr_3=p.P437P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=63767173;refseq.start_2=63778585;refseq.start_3=63778585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=soap GT 0/1 chr17 63779245 . T G 135.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=577;Dels=0.00;HRun=0;HaplotypeScore=18.43;MQ=80.15;MQ0=12;OQ=11537.82;QD=20.00;RankSumP=0.361591;SB=-4373.12;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.651A>C;refseq.codingCoordStr_3=c.651A>C;refseq.codonCoord_2=217;refseq.codonCoord_3=217;refseq.end_1=63814668;refseq.end_2=63779245;refseq.end_3=63779245;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=964;refseq.mrnaCoord_3=837;refseq.name2_1=ARSG;refseq.name2_2=SLC16A6;refseq.name2_3=SLC16A6;refseq.name_1=NM_014960;refseq.name_2=NM_001174166;refseq.name_3=NM_004694;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.E217D;refseq.proteinCoordStr_3=p.E217D;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_2=146;refseq.spliceDist_3=146;refseq.start_1=63767173;refseq.start_2=63779245;refseq.start_3=63779245;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr17 63781677 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=99.00;MQ0=0;OQ=1361.12;QD=14.96;RankSumP=0.214855;SB=-432.58;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.362T>C;refseq.codingCoordStr_3=c.362T>C;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.end_1=63814668;refseq.end_2=63781677;refseq.end_3=63781677;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=675;refseq.mrnaCoord_3=548;refseq.name2_1=ARSG;refseq.name2_2=SLC16A6;refseq.name2_3=SLC16A6;refseq.name_1=NM_014960;refseq.name_2=NM_001174166;refseq.name_3=NM_004694;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I121T;refseq.proteinCoordStr_3=p.I121T;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=63767173;refseq.start_2=63781677;refseq.start_3=63781677;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 0/1 chr17 63876344 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=331;Dels=0.00;HRun=2;HaplotypeScore=32.99;MQ=98.43;MQ0=0;OQ=2629.04;QD=7.94;RankSumP=0.0842959;SB=-1312.19;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.765T>C;refseq.codonCoord=255;refseq.end=63876344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1561;refseq.name=NM_014960;refseq.name2=ARSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=61;refseq.start=63876344;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr17 63876399 . T C 122.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=3.69;MQ=98.92;MQ0=0;OQ=2314.19;QD=12.44;RankSumP=0.323924;SB=-1118.75;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.820T>C;refseq.codonCoord=274;refseq.end=63876399;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1616;refseq.name=NM_014960;refseq.name2=ARSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.W274R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-82;refseq.start=63876399;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 63927952 . C T 238.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=98.61;MQ0=0;OQ=7861.09;QD=21.02;RankSumP=0.495597;SB=-2577.04;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1331C>T;refseq.codonCoord=444;refseq.end=63927952;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2127;refseq.name=NM_014960;refseq.name2=ARSG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T444M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=28;refseq.start=63927952;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr17 63960717 . G A 247.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=7.35;MQ=98.90;MQ0=0;OQ=7439.90;QD=40.43;RankSumP=1.00000;SB=-2176.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.92C>T;refseq.codonCoord=31;refseq.end=63960717;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_017983;refseq.name2=WIPI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=12;refseq.start=63960717;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr17 64030620 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.10858e-06;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.306T>C;refseq.codingCoordStr_2=c.306T>C;refseq.codingCoordStr_3=c.306T>C;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.codonCoord_3=102;refseq.end_1=64030620;refseq.end_2=64030620;refseq.end_3=64030620;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=459;refseq.mrnaCoord_2=486;refseq.mrnaCoord_3=490;refseq.name2_1=PRKAR1A;refseq.name2_2=PRKAR1A;refseq.name2_3=PRKAR1A;refseq.name_1=NM_002734;refseq.name_2=NM_212471;refseq.name_3=NM_212472;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A102A;refseq.proteinCoordStr_2=p.A102A;refseq.proteinCoordStr_3=p.A102A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=64030620;refseq.start_2=64030620;refseq.start_3=64030620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 1/0 chr17 64045250 . A G 283.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.10;MQ0=0;OQ=2203.14;QD=33.38;RankSumP=1.00000;SB=-999.40;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1589T>C;refseq.codonCoord_2=530;refseq.end_1=64045250;refseq.end_2=64045250;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1304;refseq.mrnaCoord_2=1877;refseq.name2_1=FAM20A;refseq.name2_2=FAM20A;refseq.name_1=NR_027751;refseq.name_2=NM_017565;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L530S;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=228;refseq.spliceDist_2=228;refseq.start_1=64045250;refseq.start_2=64045250;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr17 64049834 . G T 74.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.42;MQ0=0;OQ=3179.93;QD=35.73;RankSumP=1.00000;SB=-1111.84;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.996C>A;refseq.codonCoord_2=332;refseq.end_1=64049834;refseq.end_2=64049834;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=686;refseq.mrnaCoord_2=1284;refseq.name2_1=FAM20A;refseq.name2_2=FAM20A;refseq.name_1=NR_027751;refseq.name_2=NM_017565;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N332K;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=64049834;refseq.start_2=64049834;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr17 64051442 . C T 153.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=10.78;MQ=98.86;MQ0=0;OQ=4271.56;QD=16.49;RankSumP=0.315146;SB=-1502.25;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.735G>A;refseq.codonCoord_2=245;refseq.end_1=64051442;refseq.end_2=64051442;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=425;refseq.mrnaCoord_2=1023;refseq.name2_1=FAM20A;refseq.name2_2=FAM20A;refseq.name_1=NR_027751;refseq.name_2=NM_017565;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E245E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=12;refseq.spliceDist_2=16;refseq.start_1=64051442;refseq.start_2=64051442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr17 64108058 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=89.83;MQ0=0;OQ=301.11;QD=18.82;RankSumP=0.295904;SB=-158.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.345G>A;refseq.codonCoord=115;refseq.end=64108058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=633;refseq.name=NM_017565;refseq.name2=FAM20A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S115S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-60;refseq.start=64108058;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr17 64384397 . G C 125.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=7.24;MQ=93.48;MQ0=0;OQ=17255.35;QD=41.78;RankSumP=1.00000;SB=-7310.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.4122C>G;refseq.codonCoord=1374;refseq.end=64384397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4301;refseq.name=NM_007168;refseq.name2=ABCA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1374P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-34;refseq.start=64384397;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 64392971 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3390A>C;refseq.codonCoord=1130;refseq.end=64392971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3569;refseq.name=NM_007168;refseq.name2=ABCA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1130P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-40;refseq.start=64392971;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 64410594 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2499A>G;refseq.codonCoord=833;refseq.end=64410594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2678;refseq.name=NM_007168;refseq.name2=ABCA8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G833G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=22;refseq.start=64410594;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 64497587 . T G 212.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=3029.78;QD=19.67;RankSumP=0.495024;SB=-543.40;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3917A>C;refseq.codonCoord=1306;refseq.end=64497587;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4060;refseq.name=NM_080283;refseq.name2=ABCA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1306T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-39;refseq.start=64497587;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr17 64539855 . T C 157.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=296;Dels=0.00;HRun=1;HaplotypeScore=11.21;MQ=98.80;MQ0=0;OQ=5508.99;QD=18.61;RankSumP=0.210530;SB=-1964.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1434A>G;refseq.codonCoord=478;refseq.end=64539855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1577;refseq.name=NM_080283;refseq.name2=ABCA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K478K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-12;refseq.start=64539855;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr17 64543052 . C T 445.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.99;MQ0=0;OQ=6932.29;QD=41.76;RankSumP=1.00000;SB=-2179.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1058G>A;refseq.codonCoord=353;refseq.end=64543052;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_080283;refseq.name2=ABCA9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R353H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-71;refseq.start=64543052;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr17 64593425 . T C 171.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.99;MQ0=0;OQ=3095.11;QD=14.40;RankSumP=0.358128;SB=-1139.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3965A>G;refseq.codonCoord=1322;refseq.end=64593425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4140;refseq.name=NM_080284;refseq.name2=ABCA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1322S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=28;refseq.start=64593425;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 64595124 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3784A>C;refseq.codonCoord=1262;refseq.end=64595124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3959;refseq.name=NM_080284;refseq.name2=ABCA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1262P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-36;refseq.start=64595124;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr17 64613313 . C T 333.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.60;MQ0=0;OQ=2887.72;QD=40.67;RankSumP=1.00000;SB=-1189.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2625G>A;refseq.codonCoord=875;refseq.end=64613313;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2800;refseq.name=NM_080284;refseq.name2=ABCA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M875I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=52;refseq.start=64613313;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr17 64637435 . C T 140.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.96;MQ0=0;OQ=3098.31;QD=12.70;RankSumP=0.291515;SB=-957.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.844G>A;refseq.codonCoord=282;refseq.end=64637435;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_080284;refseq.name2=ABCA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V282I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=53;refseq.start=64637435;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr17 64662802 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=701.28;QD=10.47;RankSumP=0.450326;SB=-290.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3647G>T;refseq.codonCoord=1216;refseq.end=64662802;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4526;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1216I;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-48;refseq.start=64662802;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr17 64689911 . A G 293.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=8403.46;QD=38.73;RankSumP=1.00000;SB=-4070.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2747T>C;refseq.codonCoord=916;refseq.end=64689911;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3626;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.M916T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-23;refseq.start=64689911;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 64722587 . T C 157.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.62;MQ0=0;OQ=1852.49;QD=15.70;RankSumP=0.496583;SB=-558.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.859A>G;refseq.codonCoord=287;refseq.end=64722587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1738;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.I287V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=64722587;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr17 64723626 . A G 349.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=98.88;MQ0=0;OQ=6603.83;QD=41.27;RankSumP=1.00000;SB=-2764.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.783T>C;refseq.codonCoord=261;refseq.end=64723626;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y261Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-76;refseq.start=64723626;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 64724018 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=569;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.87;MQ0=0;OQ=24648.62;QD=43.32;RankSumP=1.00000;SB=-10148.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.607C>T;refseq.codonCoord=203;refseq.end=64724018;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1486;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P203S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-66;refseq.start=64724018;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr17 64727307 . C T 189.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.91;MQ0=0;OQ=4408.16;QD=43.22;RankSumP=1.00000;SB=-1667.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.504G>A;refseq.codonCoord=168;refseq.end=64727307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1383;refseq.name=NM_080282;refseq.name2=ABCA10;refseq.positionType=CDS;refseq.proteinCoordStr=p.V168V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-27;refseq.start=64727307;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr17 64772521 . A G 294.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=5.96;MQ=99.00;MQ0=0;OQ=1616.94;QD=17.97;RankSumP=0.311181;SB=-718.34;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.3265T>C;refseq.codingCoordStr_2=c.3265T>C;refseq.codonCoord_1=1089;refseq.codonCoord_2=1089;refseq.end_1=64772521;refseq.end_2=64772521;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4483;refseq.mrnaCoord_2=3411;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1089L;refseq.proteinCoordStr_2=p.L1089L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=64772521;refseq.start_2=64772521;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr17 64778912 . T C 277.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=1;HaplotypeScore=4.40;MQ=98.86;MQ0=0;OQ=6148.91;QD=18.80;RankSumP=0.287572;SB=-1903.69;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2878A>G;refseq.codingCoordStr_2=c.2878A>G;refseq.codonCoord_1=960;refseq.codonCoord_2=960;refseq.end_1=64778912;refseq.end_2=64778912;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4096;refseq.mrnaCoord_2=3024;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M960V;refseq.proteinCoordStr_2=p.M960V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=64778912;refseq.start_2=64778912;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr17 64785477 . C A 209.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=98.82;MQ0=0;OQ=3158.33;QD=15.87;RankSumP=0.441831;SB=-1561.66;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2494G>T;refseq.codingCoordStr_2=c.2494G>T;refseq.codonCoord_1=832;refseq.codonCoord_2=832;refseq.end_1=64785477;refseq.end_2=64785477;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3712;refseq.mrnaCoord_2=2640;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A832S;refseq.proteinCoordStr_2=p.A832S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.start_1=64785477;refseq.start_2=64785477;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr17 64802435 . T C 149.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=5.77;MQ=99.00;MQ0=0;OQ=2062.83;QD=15.87;RankSumP=0.379746;SB=-568.57;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1451A>G;refseq.codingCoordStr_2=c.1451A>G;refseq.codonCoord_1=484;refseq.codonCoord_2=484;refseq.end_1=64802435;refseq.end_2=64802435;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2669;refseq.mrnaCoord_2=1597;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q484R;refseq.proteinCoordStr_2=p.Q484R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=64802435;refseq.start_2=64802435;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr17 64804937 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1426G>A;refseq.codingCoordStr_2=c.1426G>A;refseq.codonCoord_1=476;refseq.codonCoord_2=476;refseq.end_1=64804937;refseq.end_2=64804937;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2644;refseq.mrnaCoord_2=1572;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E476K;refseq.proteinCoordStr_2=p.E476K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=64804937;refseq.start_2=64804937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr17 64816042 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=484;Dels=0.00;HRun=2;HaplotypeScore=9.52;MQ=98.76;MQ0=0;OQ=10305.64;QD=21.29;RankSumP=1.43813e-08;SB=-3296.38;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.532G>A;refseq.codingCoordStr_2=c.532G>A;refseq.codonCoord_1=178;refseq.codonCoord_2=178;refseq.end_1=64816042;refseq.end_2=64816042;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1750;refseq.mrnaCoord_2=678;refseq.name2_1=ABCA5;refseq.name2_2=ABCA5;refseq.name_1=NM_018672;refseq.name_2=NM_172232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A178T;refseq.proteinCoordStr_2=p.A178T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=64816042;refseq.start_2=64816042;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=filterInsoap-gatk GT 0/1 chr17 65683067 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.292T>G;refseq.codonCoord=98;refseq.end=65683067;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_000891;refseq.name2=KCNJ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F98V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=508;refseq.start=65683067;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr17 68455585 . T C 301.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=250;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.76;MQ0=0;OQ=10240.57;QD=40.96;RankSumP=1.00000;SB=-4156.19;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.331A>G;refseq.codingCoordStr_2=c.331A>G;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.end_1=68455585;refseq.end_2=68455585;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=446;refseq.mrnaCoord_2=446;refseq.name2_1=SLC39A11;refseq.name2_2=SLC39A11;refseq.name_1=NM_001159770;refseq.name_2=NM_139177;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T111A;refseq.proteinCoordStr_2=p.T111A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=68455585;refseq.start_2=68455585;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr17 68539348 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.248T>G;refseq.codingCoordStr_2=c.248T>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=68539348;refseq.end_2=68539348;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=363;refseq.mrnaCoord_2=363;refseq.name2_1=SLC39A11;refseq.name2_2=SLC39A11;refseq.name_1=NM_001159770;refseq.name_2=NM_139177;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V83G;refseq.proteinCoordStr_2=p.V83G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=68539348;refseq.start_2=68539348;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr17 68704258 . G A 314.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.58;MQ0=0;OQ=7350.54;QD=43.24;RankSumP=1.00000;SB=-3571.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.333G>A;refseq.codonCoord=111;refseq.end=68704258;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q111Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=18;refseq.start=68704258;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr17 68704468 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=10.50;MQ=97.24;MQ0=0;OQ=2099.56;QD=21.42;RankSumP=1.00000;SB=-115.05;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.543A>G;refseq.codonCoord=181;refseq.end=68704468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A181A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-18;refseq.start=68704468;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr17 68704472 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.547G>C;refseq.codonCoord=183;refseq.end=68704472;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A183P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-14;refseq.start=68704472;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 68704801 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.728A>C;refseq.codonCoord=243;refseq.end=68704801;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=764;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N243T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-15;refseq.start=68704801;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr17 68707653 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.968A>C;refseq.codonCoord=323;refseq.end=68707653;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1004;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H323P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=55;refseq.start=68707653;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 68708404 . A G 394.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.26;MQ0=0;OQ=5568.57;QD=37.63;RankSumP=1.00000;SB=-1039.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1175A>G;refseq.codonCoord=392;refseq.end=68708404;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1211;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N392S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=105;refseq.start=68708404;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr17 68709034 . C T 319.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=427;Dels=0.00;HRun=0;HaplotypeScore=11.71;MQ=98.88;MQ0=0;OQ=7973.02;QD=18.67;RankSumP=0.267524;SB=-3046.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1473C>T;refseq.codonCoord=491;refseq.end=68709034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1509;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S491S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=192;refseq.start=68709034;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr17 68709343 . G A 233.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=6.76;MQ=98.92;MQ0=0;OQ=8872.72;QD=42.86;RankSumP=1.00000;SB=-2664.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1782G>A;refseq.codonCoord=594;refseq.end=68709343;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1818;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E594E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-292;refseq.start=68709343;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr17 68714524 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2702T>C;refseq.codonCoord=901;refseq.end=68714524;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2738;refseq.name=NM_018714;refseq.name2=COG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I901T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-28;refseq.start=68714524;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 68716049 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.*1214A>C;refseq.codingCoordStr_2=c.2807T>G;refseq.codingCoordStr_3=c.*1214A>C;refseq.codonCoord_2=936;refseq.end_1=68716049;refseq.end_2=68716049;refseq.end_3=68716049;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1926;refseq.mrnaCoord_2=2843;refseq.mrnaCoord_3=1863;refseq.name2_1=FAM104A;refseq.name2_2=COG1;refseq.name2_3=FAM104A;refseq.name_1=NM_001098832;refseq.name_2=NM_018714;refseq.name_3=NM_032837;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.V936G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-963;refseq.spliceDist_2=2;refseq.spliceDist_3=-963;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=68716049;refseq.start_2=68716049;refseq.start_3=68716049;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr17 68744282 . T C 317.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.83;MQ0=0;OQ=8598.36;QD=40.56;RankSumP=1.00000;SB=-4245.05;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1066T>C;refseq.codingCoordStr_2=c.1066T>C;refseq.codingCoordStr_3=c.1066T>C;refseq.codonCoord_1=356;refseq.codonCoord_2=356;refseq.codonCoord_3=356;refseq.end_1=68744282;refseq.end_2=68744282;refseq.end_3=68744282;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1260;refseq.mrnaCoord_3=1260;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F356L;refseq.proteinCoordStr_2=p.F356L;refseq.proteinCoordStr_3=p.F356L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-448;refseq.spliceDist_2=-448;refseq.spliceDist_3=-448;refseq.start_1=68744282;refseq.start_2=68744282;refseq.start_3=68744282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/1 chr17 68744399 . C A 335.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.64;MQ0=0;OQ=6663.13;QD=38.74;RankSumP=1.00000;SB=-2614.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1183C>A;refseq.codingCoordStr_2=c.1183C>A;refseq.codingCoordStr_3=c.1183C>A;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.codonCoord_3=395;refseq.end_1=68744399;refseq.end_2=68744399;refseq.end_3=68744399;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1377;refseq.mrnaCoord_2=1377;refseq.mrnaCoord_3=1377;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H395N;refseq.proteinCoordStr_2=p.H395N;refseq.proteinCoordStr_3=p.H395N;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-331;refseq.spliceDist_2=-331;refseq.spliceDist_3=-331;refseq.start_1=68744399;refseq.start_2=68744399;refseq.start_3=68744399;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/1 chr17 68744402 . T C 254.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=98.65;MQ0=0;OQ=6881.33;QD=38.23;RankSumP=1.00000;SB=-3198.94;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1186T>C;refseq.codingCoordStr_2=c.1186T>C;refseq.codingCoordStr_3=c.1186T>C;refseq.codonCoord_1=396;refseq.codonCoord_2=396;refseq.codonCoord_3=396;refseq.end_1=68744402;refseq.end_2=68744402;refseq.end_3=68744402;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1380;refseq.mrnaCoord_2=1380;refseq.mrnaCoord_3=1380;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C396R;refseq.proteinCoordStr_2=p.C396R;refseq.proteinCoordStr_3=p.C396R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-328;refseq.spliceDist_2=-328;refseq.spliceDist_3=-328;refseq.start_1=68744402;refseq.start_2=68744402;refseq.start_3=68744402;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr17 68744476 . G C 265.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.97;MQ0=0;OQ=11240.00;QD=46.83;RankSumP=1.00000;SB=-3809.31;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1260G>C;refseq.codingCoordStr_2=c.1260G>C;refseq.codingCoordStr_3=c.1260G>C;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.codonCoord_3=420;refseq.end_1=68744476;refseq.end_2=68744476;refseq.end_3=68744476;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1454;refseq.mrnaCoord_2=1454;refseq.mrnaCoord_3=1454;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q420H;refseq.proteinCoordStr_2=p.Q420H;refseq.proteinCoordStr_3=p.Q420H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-254;refseq.spliceDist_2=-254;refseq.spliceDist_3=-254;refseq.start_1=68744476;refseq.start_2=68744476;refseq.start_3=68744476;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr17 68744686 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1470G>A;refseq.codingCoordStr_2=c.1470G>A;refseq.codingCoordStr_3=c.1470G>A;refseq.codonCoord_1=490;refseq.codonCoord_2=490;refseq.codonCoord_3=490;refseq.end_1=68744686;refseq.end_2=68744686;refseq.end_3=68744686;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1664;refseq.mrnaCoord_2=1664;refseq.mrnaCoord_3=1664;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q490Q;refseq.proteinCoordStr_2=p.Q490Q;refseq.proteinCoordStr_3=p.Q490Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.spliceDist_3=-44;refseq.start_1=68744686;refseq.start_2=68744686;refseq.start_3=68744686;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=FilteredInAll GT 1/0 chr17 68744725 . A G 314.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.69;MQ0=0;OQ=4888.93;QD=39.43;RankSumP=1.00000;SB=-1058.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1509A>G;refseq.codingCoordStr_2=c.1509A>G;refseq.codingCoordStr_3=c.1509A>G;refseq.codonCoord_1=503;refseq.codonCoord_2=503;refseq.codonCoord_3=503;refseq.end_1=68744725;refseq.end_2=68744725;refseq.end_3=68744725;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1703;refseq.mrnaCoord_2=1703;refseq.mrnaCoord_3=1703;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S503S;refseq.proteinCoordStr_2=p.S503S;refseq.proteinCoordStr_3=p.S503S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=68744725;refseq.start_2=68744725;refseq.start_3=68744725;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 1/1 chr17 68750028 . G A 209.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=7.17;MQ=98.74;MQ0=0;OQ=17802.69;QD=40.65;RankSumP=1.00000;SB=-8622.63;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.1564G>A;refseq.codingCoordStr_3=c.1564G>A;refseq.codonCoord_2=522;refseq.codonCoord_3=522;refseq.end_1=68750619;refseq.end_2=68750028;refseq.end_3=68750028;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1758;refseq.mrnaCoord_3=1758;refseq.name2_1=C17orf80;refseq.name2_2=C17orf80;refseq.name2_3=C17orf80;refseq.name_1=NM_001100621;refseq.name_2=NM_001100622;refseq.name_3=NM_017941;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A522T;refseq.proteinCoordStr_3=p.A522T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=68744740;refseq.start_2=68750028;refseq.start_3=68750028;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr17 69813027 . A G 259.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.38;MQ0=0;OQ=8280.10;QD=20.05;RankSumP=0.174748;SB=-2927.42;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1062A>G;refseq.codingCoordStr_2=c.1062A>G;refseq.codonCoord_1=354;refseq.codonCoord_2=354;refseq.end_1=69813027;refseq.end_2=69813027;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1169;refseq.mrnaCoord_2=1172;refseq.name2_1=DNAI2;refseq.name2_2=DNAI2;refseq.name_1=NM_001172810;refseq.name_2=NM_023036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E354E;refseq.proteinCoordStr_2=p.E354E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=69813027;refseq.start_2=69813027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr17 69817886 . G A 104.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=98.74;MQ0=0;OQ=896.05;QD=20.84;RankSumP=0.380418;SB=-300.19;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1447G>A;refseq.codingCoordStr_2=c.1483G>A;refseq.codonCoord_1=483;refseq.codonCoord_2=495;refseq.end_1=69817886;refseq.end_2=69817886;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1554;refseq.mrnaCoord_2=1593;refseq.name2_1=DNAI2;refseq.name2_2=DNAI2;refseq.name_1=NM_001172810;refseq.name_2=NM_023036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V483I;refseq.proteinCoordStr_2=p.V495I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=69817886;refseq.start_2=69817886;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr17 69819886 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=8.02;MQ=98.73;MQ0=0;OQ=458.82;QD=7.28;RankSumP=0.0914009;SB=-183.46;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1608C>A;refseq.codingCoordStr_2=c.1644C>A;refseq.codonCoord_1=536;refseq.codonCoord_2=548;refseq.end_1=69819886;refseq.end_2=69819886;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1754;refseq.name2_1=DNAI2;refseq.name2_2=DNAI2;refseq.name_1=NM_001172810;refseq.name_2=NM_023036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A536A;refseq.proteinCoordStr_2=p.A548A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=69819886;refseq.start_2=69819886;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr17 69819914 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.65;MQ0=0;OQ=1144.67;QD=23.36;RankSumP=0.146150;SB=-426.19;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1636G>A;refseq.codingCoordStr_2=c.1672G>A;refseq.codonCoord_1=546;refseq.codonCoord_2=558;refseq.end_1=69819914;refseq.end_2=69819914;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1743;refseq.mrnaCoord_2=1782;refseq.name2_1=DNAI2;refseq.name2_2=DNAI2;refseq.name_1=NM_001172810;refseq.name_2=NM_023036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A546T;refseq.proteinCoordStr_2=p.A558T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=69819914;refseq.start_2=69819914;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr17 69864609 . C G 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.730769;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1219G>C;refseq.codonCoord=407;refseq.end=69864609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_001080466;refseq.name2=BTBD17;refseq.positionType=CDS;refseq.proteinCoordStr=p.V407L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-459;refseq.start=69864609;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr17 69878290 . C A 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.19;MQ0=0;OQ=2015.98;QD=30.55;RankSumP=1.00000;SB=-541.32;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.394C>A;refseq.codonCoord=132;refseq.end=69878290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_181790;refseq.name2=GPR142;refseq.positionType=CDS;refseq.proteinCoordStr=p.H132N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=36;refseq.start=69878290;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 69880145 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=524;Dels=0.00;HRun=0;HaplotypeScore=22.51;MQ=98.77;MQ0=0;OQ=19274.68;QD=36.78;RankSumP=1.00000;SB=-8704.27;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1200T>C;refseq.codonCoord=400;refseq.end=69880145;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_181790;refseq.name2=GPR142;refseq.positionType=CDS;refseq.proteinCoordStr=p.N400N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-190;refseq.start=69880145;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr17 69981553 . A G 278.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=440;Dels=0.00;HRun=0;HaplotypeScore=11.03;MQ=58.70;MQ0=170;OQ=8246.13;QD=18.74;RankSumP=1.00000;SB=-3124.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.324A>G;refseq.codonCoord=108;refseq.end=69981553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=645;refseq.name=NM_007261;refseq.name2=CD300A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P108P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-56;refseq.start=69981553;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 69981561 . G A 105.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=6.17;MQ=62.42;MQ0=158;OQ=5711.03;QD=12.98;RankSumP=0.429796;SB=-1892.34;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.332G>A;refseq.codonCoord=111;refseq.end=69981561;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_007261;refseq.name2=CD300A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R111Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-48;refseq.start=69981561;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr17 70033492 . G A 172.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=547;Dels=0.00;HRun=1;HaplotypeScore=10.06;MQ=98.87;MQ0=0;OQ=10629.81;QD=19.43;RankSumP=0.369283;SB=-2338.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.471C>T;refseq.codonCoord=157;refseq.end=70033492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_174892;refseq.name2=CD300LB;refseq.positionType=CDS;refseq.proteinCoordStr=p.I157I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-11;refseq.start=70033492;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr17 70121684 . C T 399.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.79;MQ0=0;OQ=5170.69;QD=41.70;RankSumP=1.00000;SB=-1094.32;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.472G>A;refseq.codonCoord=158;refseq.end=70121684;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=513;refseq.name=NM_181449;refseq.name2=CD300E;refseq.positionType=CDS;refseq.proteinCoordStr=p.G158R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-26;refseq.start=70121684;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr17 70203523 . T C 391.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=98.43;MQ0=0;OQ=6576.65;QD=35.36;RankSumP=1.00000;SB=-2626.72;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.653A>G;refseq.codonCoord_2=218;refseq.end_1=70236979;refseq.end_2=70203523;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=756;refseq.name2_1=RAB37;refseq.name2_2=CD300LF;refseq.name_1=NM_175738;refseq.name_2=NM_139018;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q218R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=-65;refseq.start_1=70179403;refseq.start_2=70203523;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr17 70212538 . A G 207.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=4.39;MQ=98.48;MQ0=0;OQ=7100.62;QD=38.80;RankSumP=1.00000;SB=-1369.74;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.56T>C;refseq.codonCoord_2=19;refseq.end_1=70236979;refseq.end_2=70212538;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=159;refseq.name2_1=RAB37;refseq.name2_2=CD300LF;refseq.name_1=NM_175738;refseq.name_2=NM_139018;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V19A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=13;refseq.start_1=70179403;refseq.start_2=70212538;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr17 70256759 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500028;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.179T>G;refseq.codonCoord=60;refseq.end=70256759;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=402;refseq.name=NM_004252;refseq.name2=SLC9A3R1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V60G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-263;refseq.start=70256759;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 70285073 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=70285073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_017728;refseq.name2=TMEM104;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-37;refseq.start=70285073;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 70350244 . C A 223.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=97.15;MQ0=0;OQ=1263.93;QD=16.20;RankSumP=0.0687807;SB=-399.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3627G>T;refseq.codonCoord=1209;refseq.end=70350244;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3783;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1209S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-482;refseq.start=70350244;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 70350723 . C G 13.29 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=79.31;MQ0=0;QD=6.65;SB=-10.00;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3148G>C;refseq.codonCoord=1050;refseq.end=70350723;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3304;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1050Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=565;refseq.start=70350723;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,2:1:-4.59,-0.30,-0.00:1.76 chr17 70350724 . C G 14.25 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=79.31;MQ0=0;QD=7.13;SB=-10.00;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3147G>C;refseq.codonCoord=1049;refseq.end=70350724;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3303;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1049L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=564;refseq.start=70350724;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,2:1:-4.69,-0.30,-0.00:1.76 chr17 70350725 . A G 35.83 LowQual;SnpCluster AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.37;MQ0=0;QD=11.94;SB=-10.00;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3146T>C;refseq.codonCoord=1049;refseq.end=70350725;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3302;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1049P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=563;refseq.start=70350725;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,3:2:-6.99,-0.60,-0.00:6.02 chr17 70354584 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2072A>C;refseq.codonCoord=691;refseq.end=70354584;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2228;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.N691T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=71;refseq.start=70354584;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr17 70362728 . A G 80.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=3.85;MQ=96.51;MQ0=0;OQ=1466.29;QD=29.92;RankSumP=1.00000;SB=-700.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=70362728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_000835;refseq.name2=GRIN2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.A33A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=114;refseq.start=70362728;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr17 70374188 . C T 215.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=98.69;MQ0=0;OQ=1614.23;QD=15.67;RankSumP=0.0101027;SB=-482.46;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.368G>A;refseq.codingCoordStr_2=c.368G>A;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.end_1=70374188;refseq.end_2=70374188;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=455;refseq.mrnaCoord_2=455;refseq.name2_1=FDXR;refseq.name2_2=FDXR;refseq.name_1=NM_004110;refseq.name_2=NM_024417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R123Q;refseq.proteinCoordStr_2=p.R123Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=70374188;refseq.start_2=70374188;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr17 70427933 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.506171;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.593A>C;refseq.codonCoord=198;refseq.end=70427933;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_173477;refseq.name2=USH1G;refseq.positionType=CDS;refseq.proteinCoordStr=p.H198P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=429;refseq.start=70427933;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr17 70438139 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.814A>C;refseq.codonCoord=272;refseq.end=70438139;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_178160;refseq.name2=OTOP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T272P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=171;refseq.start=70438139;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 70441136 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1590C>A;refseq.codonCoord=530;refseq.end=70441136;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1682;refseq.name=NM_178160;refseq.name2=OTOP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y530*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=72;refseq.start=70441136;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr17 70449200 . G A 259.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.94;MQ0=0;OQ=624.80;QD=34.71;RankSumP=1.00000;SB=-283.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.191G>A;refseq.codonCoord=64;refseq.end=70449200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_178233;refseq.name2=OTOP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R64Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=85;refseq.start=70449200;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 70449390 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=423;Dels=0.00;HRun=0;HaplotypeScore=12.71;MQ=98.50;MQ0=0;OQ=16814.37;QD=39.75;RankSumP=1.00000;SB=-7592.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.381G>A;refseq.codonCoord=127;refseq.end=70449390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_178233;refseq.name2=OTOP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T127T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-110;refseq.start=70449390;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr17 70449446 . G A 157.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=7.67;MQ=98.42;MQ0=0;OQ=6425.13;QD=37.14;RankSumP=1.00000;SB=-747.00;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.437G>A;refseq.codonCoord=146;refseq.end=70449446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_178233;refseq.name2=OTOP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R146Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-54;refseq.start=70449446;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr17 70449695 . T C 331.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.96;MQ0=0;OQ=6342.09;QD=40.40;RankSumP=1.00000;SB=-2304.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.595T>C;refseq.codonCoord=199;refseq.end=70449695;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=595;refseq.name=NM_178233;refseq.name2=OTOP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S199P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-33;refseq.start=70449695;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 70454721 . G A 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=19.76;MQ=97.59;MQ0=0;OQ=1776.06;QD=25.01;RankSumP=1.00000;SB=-160.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1176G>A;refseq.codonCoord=392;refseq.end=70454721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_178233;refseq.name2=OTOP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A392A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=371;refseq.start=70454721;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr17 70459964 . A G 128.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.68;MQ0=0;OQ=4300.91;QD=31.62;RankSumP=1.00000;SB=-509.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2139T>C;refseq.codonCoord=713;refseq.end=70459964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2288;refseq.name=NM_030630;refseq.name2=C17orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I713I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=70459964;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr17 70463612 . A G 168.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=98.58;MQ0=0;OQ=3894.03;QD=35.73;RankSumP=1.00000;SB=-1845.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1506T>C;refseq.codonCoord=502;refseq.end=70463612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1655;refseq.name=NM_030630;refseq.name2=C17orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T502T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=35;refseq.start=70463612;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr17 70467719 . G A 457.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.12;MQ0=0;OQ=6283.27;QD=39.77;RankSumP=1.00000;SB=-1823.85;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.948C>T;refseq.codonCoord=316;refseq.end=70467719;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_030630;refseq.name2=C17orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A316A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=70467719;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr17 70639278 . T C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=9;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.120A>G;refseq.codonCoord=40;refseq.end=70639278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_014595;refseq.name2=NT5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q40Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-55;refseq.start=70639278;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/1 chr17 70733034 . C T 82.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=13.61;MQ=98.70;MQ0=0;OQ=4288.21;QD=27.31;RankSumP=1.00000;SB=-1928.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.735C>T;refseq.codonCoord=245;refseq.end=70733034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_024844;refseq.name2=NUP85;refseq.positionType=CDS;refseq.proteinCoordStr=p.P245P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=70733034;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr17 70742451 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=770;Dels=0.00;HRun=0;HaplotypeScore=15.93;MQ=98.79;MQ0=0;OQ=32026.43;QD=41.59;RankSumP=1.00000;SB=-14582.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1740C>T;refseq.codonCoord=580;refseq.end=70742451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2000;refseq.name=NM_024844;refseq.name2=NUP85;refseq.positionType=CDS;refseq.proteinCoordStr=p.D580D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-28;refseq.start=70742451;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 70769581 . C T 101.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=97.67;MQ0=0;OQ=2865.39;QD=34.11;RankSumP=1.00000;SB=-905.00;SecondBestBaseQ=5;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_3=c.5C>T;refseq.codonCoord_3=2;refseq.end_1=70769947;refseq.end_2=70769947;refseq.end_3=70769581;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=238;refseq.name2_1=GGA3;refseq.name2_2=GGA3;refseq.name2_3=MRPS7;refseq.name_1=NM_001172703;refseq.name_2=NM_001172704;refseq.name_3=NM_015971;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A2V;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCT;refseq.spliceDist_3=-79;refseq.start_1=70754483;refseq.start_2=70754483;refseq.start_3=70769581;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Val;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr17 70781125 . A G 224.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.50;MQ0=0;OQ=1394.54;QD=33.20;RankSumP=1.00000;SB=-452.51;SecondBestBaseQ=0;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.*2T>C;refseq.codingCoordStr_2=c.*2T>C;refseq.codingCoordStr_3=c.*2T>C;refseq.end_1=70781125;refseq.end_2=70781125;refseq.end_3=70781125;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1189;refseq.mrnaCoord_2=1099;refseq.mrnaCoord_3=1173;refseq.name2_1=SLC25A19;refseq.name2_2=SLC25A19;refseq.name2_3=SLC25A19;refseq.name_1=NM_001126121;refseq.name_2=NM_001126122;refseq.name_3=NM_021734;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=191;refseq.spliceDist_2=191;refseq.spliceDist_3=191;refseq.start_1=70781125;refseq.start_2=70781125;refseq.start_3=70781125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chr17 70781271 . C T 333.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=5168.94;QD=39.76;RankSumP=1.00000;SB=-2107.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.819G>A;refseq.codingCoordStr_2=c.819G>A;refseq.codingCoordStr_3=c.819G>A;refseq.codonCoord_1=273;refseq.codonCoord_2=273;refseq.codonCoord_3=273;refseq.end_1=70781271;refseq.end_2=70781271;refseq.end_3=70781271;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1043;refseq.mrnaCoord_2=953;refseq.mrnaCoord_3=1027;refseq.name2_1=SLC25A19;refseq.name2_2=SLC25A19;refseq.name2_3=SLC25A19;refseq.name_1=NM_001126121;refseq.name_2=NM_001126122;refseq.name_3=NM_021734;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L273L;refseq.proteinCoordStr_2=p.L273L;refseq.proteinCoordStr_3=p.L273L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=70781271;refseq.start_2=70781271;refseq.start_3=70781271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr17 70791219 . A G 259.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.61;MQ0=0;OQ=4311.71;QD=35.34;RankSumP=1.00000;SB=-2150.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.339T>C;refseq.codingCoordStr_2=c.339T>C;refseq.codingCoordStr_3=c.339T>C;refseq.codonCoord_1=113;refseq.codonCoord_2=113;refseq.codonCoord_3=113;refseq.end_1=70791219;refseq.end_2=70791219;refseq.end_3=70791219;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=563;refseq.mrnaCoord_2=473;refseq.mrnaCoord_3=547;refseq.name2_1=SLC25A19;refseq.name2_2=SLC25A19;refseq.name2_3=SLC25A19;refseq.name_1=NM_001126121;refseq.name_2=NM_001126122;refseq.name_3=NM_021734;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y113Y;refseq.proteinCoordStr_2=p.Y113Y;refseq.proteinCoordStr_3=p.Y113Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.start_1=70791219;refseq.start_2=70791219;refseq.start_3=70791219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/1 chr17 71000389 . C T 329.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.05;MQ0=0;OQ=5726.10;QD=39.49;RankSumP=1.00000;SB=-2113.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1836C>T;refseq.codonCoord=612;refseq.end=71000389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2111;refseq.name=NM_014738;refseq.name2=KIAA0195;refseq.positionType=CDS;refseq.proteinCoordStr=p.I612I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-77;refseq.start=71000389;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr17 71010078 . T C 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=98.87;MQ0=0;OQ=753.54;QD=32.76;RankSumP=1.00000;SB=-404.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2426A>G;refseq.codingCoordStr_2=c.2672A>G;refseq.codonCoord_1=809;refseq.codonCoord_2=891;refseq.end_1=71010078;refseq.end_2=71010078;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2731;refseq.mrnaCoord_2=3222;refseq.name2_1=CASKIN2;refseq.name2_2=CASKIN2;refseq.name_1=NM_001142643;refseq.name_2=NM_020753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E809G;refseq.proteinCoordStr_2=p.E891G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-624;refseq.spliceDist_2=-624;refseq.start_1=71010078;refseq.start_2=71010078;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr17 71010218 . A G 44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.39;MQ0=0;OQ=567.57;QD=28.38;RankSumP=1.00000;SB=-129.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2286T>C;refseq.codingCoordStr_2=c.2532T>C;refseq.codonCoord_1=762;refseq.codonCoord_2=844;refseq.end_1=71010218;refseq.end_2=71010218;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2591;refseq.mrnaCoord_2=3082;refseq.name2_1=CASKIN2;refseq.name2_2=CASKIN2;refseq.name_1=NM_001142643;refseq.name_2=NM_020753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S762S;refseq.proteinCoordStr_2=p.S844S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=713;refseq.spliceDist_2=713;refseq.start_1=71010218;refseq.start_2=71010218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr17 71010401 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=5;RankSumP=0.0178571;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2103G>C;refseq.codingCoordStr_2=c.2349G>C;refseq.codonCoord_1=701;refseq.codonCoord_2=783;refseq.end_1=71010401;refseq.end_2=71010401;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2408;refseq.mrnaCoord_2=2899;refseq.name2_1=CASKIN2;refseq.name2_2=CASKIN2;refseq.name_1=NM_001142643;refseq.name_2=NM_020753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G701G;refseq.proteinCoordStr_2=p.G783G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=530;refseq.spliceDist_2=530;refseq.start_1=71010401;refseq.start_2=71010401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr17 71010701 . A C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=5;RankSumP=0.00139933;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1803T>G;refseq.codingCoordStr_2=c.2049T>G;refseq.codonCoord_1=601;refseq.codonCoord_2=683;refseq.end_1=71010701;refseq.end_2=71010701;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2108;refseq.mrnaCoord_2=2599;refseq.name2_1=CASKIN2;refseq.name2_2=CASKIN2;refseq.name_1=NM_001142643;refseq.name_2=NM_020753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G601G;refseq.proteinCoordStr_2=p.G683G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=230;refseq.spliceDist_2=230;refseq.start_1=71010701;refseq.start_2=71010701;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 71010891 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.501044;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1613C>G;refseq.codingCoordStr_2=c.1859C>G;refseq.codonCoord_1=538;refseq.codonCoord_2=620;refseq.end_1=71010891;refseq.end_2=71010891;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1918;refseq.mrnaCoord_2=2409;refseq.name2_1=CASKIN2;refseq.name2_2=CASKIN2;refseq.name_1=NM_001142643;refseq.name_2=NM_020753;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A538G;refseq.proteinCoordStr_2=p.A620G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=71010891;refseq.start_2=71010891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 0/1 chr17 71024479 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=97.41;MQ0=0;OQ=386.32;QD=8.78;RankSumP=0.0482922;SB=-203.25;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.114T>G;refseq.codonCoord=38;refseq.end=71024479;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=147;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.H38Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=58;refseq.start=71024479;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 71024884 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=98.19;MQ0=0;OQ=747.30;QD=19.16;RankSumP=0.131594;SB=-386.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.333C>G;refseq.codonCoord=111;refseq.end=71024884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=366;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.R111R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-37;refseq.start=71024884;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 71025258 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.395A>C;refseq.codonCoord=132;refseq.end=71025258;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.D132A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=26;refseq.start=71025258;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr17 71029798 . G C 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=96.47;MQ0=0;OQ=400.35;QD=16.01;RankSumP=0.484965;SB=-175.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1041G>C;refseq.codonCoord=347;refseq.end=71029798;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.K347N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-212;refseq.start=71029798;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr17 71029879 . G C 84.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.17;MQ0=0;OQ=212.58;QD=30.37;RankSumP=1.00000;SB=-59.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1122G>C;refseq.codonCoord=374;refseq.end=71029879;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1155;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.R374R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-131;refseq.start=71029879;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chr17 71029923 . A C 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1166A>C;refseq.codonCoord=389;refseq.end=71029923;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1199;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q389P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-87;refseq.start=71029923;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr17 71031008 . C T 361.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=8.87;MQ=98.95;MQ0=0;OQ=7669.08;QD=18.17;RankSumP=0.0556552;SB=-2117.48;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1310C>T;refseq.codonCoord=437;refseq.end=71031008;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1343;refseq.name=NM_207346;refseq.name2=TSEN54;refseq.positionType=CDS;refseq.proteinCoordStr=p.A437V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=71031008;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 71063780 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=47.01;MQ=98.53;MQ0=0;OQ=7811.85;QD=22.45;RankSumP=1.00000;SB=-2516.52;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.134G>A;refseq.codingCoordStr_2=c.134G>A;refseq.codingCoordStr_3=c.134G>A;refseq.codonCoord_1=45;refseq.codonCoord_2=45;refseq.codonCoord_3=45;refseq.end_1=71063780;refseq.end_2=71063780;refseq.end_3=71063780;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=288;refseq.mrnaCoord_2=288;refseq.mrnaCoord_3=288;refseq.name2_1=LLGL2;refseq.name2_2=LLGL2;refseq.name2_3=LLGL2;refseq.name_1=NM_001015002;refseq.name_2=NM_001031803;refseq.name_3=NM_004524;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R45H;refseq.proteinCoordStr_2=p.R45H;refseq.proteinCoordStr_3=p.R45H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=71063780;refseq.start_2=71063780;refseq.start_3=71063780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr17 71081217 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2786T>G;refseq.codingCoordStr_2=c.2786T>G;refseq.codonCoord_1=929;refseq.codonCoord_2=929;refseq.end_1=71081217;refseq.end_2=71081217;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2940;refseq.mrnaCoord_2=2940;refseq.name2_1=LLGL2;refseq.name2_2=LLGL2;refseq.name_1=NM_001031803;refseq.name_2=NM_004524;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V929G;refseq.proteinCoordStr_2=p.V929G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.start_1=71081217;refseq.start_2=71081217;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 71136881 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=98.58;MQ0=0;OQ=506.85;QD=14.48;RankSumP=0.0260998;SB=-242.91;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2217C>T;refseq.codonCoord=739;refseq.end=71136881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2373;refseq.name=NM_004259;refseq.name2=RECQL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S739S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=270;refseq.start=71136881;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 71137025 . G A 194.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=98.25;MQ0=0;OQ=774.95;QD=16.85;RankSumP=0.0255695;SB=-69.05;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2073C>T;refseq.codonCoord=691;refseq.end=71137025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2229;refseq.name=NM_004259;refseq.name2=RECQL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H691H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=126;refseq.start=71137025;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr17 71137073 . T C 303.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=98.49;MQ0=0;OQ=4042.30;QD=35.77;RankSumP=1.00000;SB=-749.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2025A>G;refseq.codonCoord=675;refseq.end=71137073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2181;refseq.name=NM_004259;refseq.name2=RECQL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T675T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=78;refseq.start=71137073;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr17 71139160 . A G 224.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=98.76;MQ0=0;OQ=5158.90;QD=32.24;RankSumP=1.00000;SB=-2498.61;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1413T>C;refseq.codonCoord=471;refseq.end=71139160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1569;refseq.name=NM_004259;refseq.name2=RECQL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y471Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-36;refseq.start=71139160;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr17 71169340 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.815G>T;refseq.codingCoordStr_2=c.815G>T;refseq.codingCoordStr_3=c.815G>T;refseq.codonCoord_1=272;refseq.codonCoord_2=272;refseq.codonCoord_3=272;refseq.end_1=71169340;refseq.end_2=71169340;refseq.end_3=71169340;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=975;refseq.mrnaCoord_2=975;refseq.mrnaCoord_3=971;refseq.name2_1=RECQL5;refseq.name2_2=RECQL5;refseq.name2_3=RECQL5;refseq.name_1=NM_001003715;refseq.name_2=NM_001003716;refseq.name_3=NM_004259;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C272F;refseq.proteinCoordStr_2=p.C272F;refseq.proteinCoordStr_3=p.C272F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.spliceDist_3=44;refseq.start_1=71169340;refseq.start_2=71169340;refseq.start_3=71169340;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=FilteredInAll GT 1/0 chr17 71213730 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=21.03;MQ=98.17;MQ0=0;OQ=1508.70;QD=11.01;RankSumP=0.0554573;SB=-727.81;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.708G>A;refseq.codonCoord=236;refseq.end=71213730;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_013260;refseq.name2=SAP30BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T236T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-38;refseq.start=71213730;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr17 71237932 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=2;RankSumP=1.95051e-05;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.754C>G;refseq.codingCoordStr_2=c.754C>G;refseq.codingCoordStr_3=c.754C>G;refseq.codonCoord_1=252;refseq.codonCoord_2=252;refseq.codonCoord_3=252;refseq.end_1=71237932;refseq.end_2=71237932;refseq.end_3=71237932;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=762;refseq.mrnaCoord_3=941;refseq.name2_1=ITGB4;refseq.name2_2=ITGB4;refseq.name2_3=ITGB4;refseq.name_1=NM_000213;refseq.name_2=NM_001005619;refseq.name_3=NM_001005731;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R252G;refseq.proteinCoordStr_2=p.R252G;refseq.proteinCoordStr_3=p.R252G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.start_1=71237932;refseq.start_2=71237932;refseq.start_3=71237932;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr17 71244001 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1799G>C;refseq.codingCoordStr_2=c.1799G>C;refseq.codingCoordStr_3=c.1799G>C;refseq.codonCoord_1=600;refseq.codonCoord_2=600;refseq.codonCoord_3=600;refseq.end_1=71244001;refseq.end_2=71244001;refseq.end_3=71244001;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1986;refseq.mrnaCoord_2=1807;refseq.mrnaCoord_3=1986;refseq.name2_1=ITGB4;refseq.name2_2=ITGB4;refseq.name2_3=ITGB4;refseq.name_1=NM_000213;refseq.name_2=NM_001005619;refseq.name_3=NM_001005731;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R600P;refseq.proteinCoordStr_2=p.R600P;refseq.proteinCoordStr_3=p.R600P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.start_1=71244001;refseq.start_2=71244001;refseq.start_3=71244001;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr17 71262454 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=16.29;MQ=96.55;MQ0=0;OQ=2185.75;QD=12.49;RankSumP=0.260042;SB=-1114.80;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.4521C>G;refseq.codingCoordStr_2=c.4311C>G;refseq.codingCoordStr_3=c.4311C>G;refseq.codonCoord_1=1507;refseq.codonCoord_2=1437;refseq.codonCoord_3=1437;refseq.end_1=71262454;refseq.end_2=71262454;refseq.end_3=71262454;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4708;refseq.mrnaCoord_2=4319;refseq.mrnaCoord_3=4498;refseq.name2_1=ITGB4;refseq.name2_2=ITGB4;refseq.name2_3=ITGB4;refseq.name_1=NM_000213;refseq.name_2=NM_001005619;refseq.name_3=NM_001005731;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1507P;refseq.proteinCoordStr_2=p.P1437P;refseq.proteinCoordStr_3=p.P1437P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=71262454;refseq.start_2=71262454;refseq.start_3=71262454;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr17 71265098 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=95.45;MQ0=0;OQ=1036.90;QD=13.83;RankSumP=0.311677;SB=-198.52;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.5336T>C;refseq.codingCoordStr_2=c.5285T>C;refseq.codingCoordStr_3=c.5126T>C;refseq.codonCoord_1=1779;refseq.codonCoord_2=1762;refseq.codonCoord_3=1709;refseq.end_1=71265098;refseq.end_2=71265098;refseq.end_3=71265098;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5523;refseq.mrnaCoord_2=5293;refseq.mrnaCoord_3=5313;refseq.name2_1=ITGB4;refseq.name2_2=ITGB4;refseq.name2_3=ITGB4;refseq.name_1=NM_000213;refseq.name_2=NM_001005619;refseq.name_3=NM_001005731;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L1779P;refseq.proteinCoordStr_2=p.L1762P;refseq.proteinCoordStr_3=p.L1709P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=71265098;refseq.start_2=71265098;refseq.start_3=71265098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr17 71265129 . C G 43 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=1.14705e-09;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.5367C>G;refseq.codingCoordStr_2=c.5316C>G;refseq.codingCoordStr_3=c.5157C>G;refseq.codonCoord_1=1789;refseq.codonCoord_2=1772;refseq.codonCoord_3=1719;refseq.end_1=71265129;refseq.end_2=71265129;refseq.end_3=71265129;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5554;refseq.mrnaCoord_2=5324;refseq.mrnaCoord_3=5344;refseq.name2_1=ITGB4;refseq.name2_2=ITGB4;refseq.name2_3=ITGB4;refseq.name_1=NM_000213;refseq.name_2=NM_001005619;refseq.name_3=NM_001005731;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G1789G;refseq.proteinCoordStr_2=p.G1772G;refseq.proteinCoordStr_3=p.G1719G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.start_1=71265129;refseq.start_2=71265129;refseq.start_3=71265129;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr17 71343529 . A C 93 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.000105036;SecondBestBaseQ=11;refseq.chr=chr17;refseq.codingCoordStr=c.1596+2;refseq.end=71343529;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_199242;refseq.name2=UNC13D;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=71343529;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr17 71461135 . G C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=98.72;MQ0=0;OQ=12912.40;QD=49.10;RankSumP=1.00000;SB=-5360.12;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.936C>G;refseq.codingCoordStr_2=c.936C>G;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.end_1=71461135;refseq.end_2=71461135;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1226;refseq.mrnaCoord_2=1226;refseq.name2_1=ACOX1;refseq.name2_2=ACOX1;refseq.name_1=NM_004035;refseq.name_2=NM_007292;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I312M;refseq.proteinCoordStr_2=p.I312M;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=71461135;refseq.start_2=71461135;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr17 71517731 . C T 252.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=10.93;MQ=98.37;MQ0=0;OQ=8330.48;QD=18.31;RankSumP=0.282223;SB=-1981.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3150G>A;refseq.codonCoord=1050;refseq.end=71517731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3378;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1050S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=489;refseq.start=71517731;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr17 71517917 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=58;Dels=0.00;HRun=2;HaplotypeScore=7.98;MQ=97.43;MQ0=0;OQ=635.48;QD=10.96;RankSumP=0.230309;SB=-162.55;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2964C>G;refseq.codonCoord=988;refseq.end=71517917;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3192;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G988G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=303;refseq.start=71517917;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr17 71518017 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2864A>G;refseq.codonCoord=955;refseq.end=71518017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3092;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E955G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=203;refseq.start=71518017;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 71525491 . A C 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.29812e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1634T>G;refseq.codonCoord=545;refseq.end=71525491;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1862;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V545G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-77;refseq.start=71525491;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 71526263 . T C 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=3;HaplotypeScore=4.66;MQ=98.56;MQ0=0;OQ=4368.24;QD=35.81;RankSumP=1.00000;SB=-1800.94;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1298A>G;refseq.codonCoord=433;refseq.end=71526263;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1526;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q433R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=14;refseq.start=71526263;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 71529149 . G T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.90;MQ=83.96;MQ0=0;OQ=219.81;QD=3.33;SB=-99.35;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1006C>A;refseq.codonCoord=336;refseq.end=71529149;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1234;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R336S;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=71529149;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:55,11:59:-43.03,-17.77,-177.89:99 chr17 71529168 . C G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=80.87;MQ0=0;OQ=204.30;QD=2.27;SB=-121.18;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.987G>C;refseq.codonCoord=329;refseq.end=71529168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_001988;refseq.name2=EVPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L329L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-25;refseq.start=71529168;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:77,13:78:-47.21,-23.49,-330.10:99 chr17 71568008 . C T 235.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=7.15;MQ=98.85;MQ0=0;OQ=5589.64;QD=20.70;RankSumP=0.0625502;SB=-2238.03;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.813G>A;refseq.codonCoord=271;refseq.end=71568008;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=848;refseq.name=NM_014230;refseq.name2=SRP68;refseq.positionType=CDS;refseq.proteinCoordStr=p.E271E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-25;refseq.start=71568008;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr17 71588010 . G A 217.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=817.18;QD=17.76;RankSumP=0.548212;SB=-375.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.454G>A;refseq.codonCoord=152;refseq.end=71588010;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_180990;refseq.name2=ZACN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A152T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=80;refseq.start=71588010;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr17 71589392 . C T 356.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=4.36;MQ=98.41;MQ0=0;OQ=5324.17;QD=18.55;RankSumP=0.311851;SB=-1913.08;SecondBestBaseQ=31;refseq.changesAA_7=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.chr_6=chr17;refseq.chr_7=chr17;refseq.codingCoordStr_2=c.*1932G>A;refseq.codingCoordStr_3=c.*1932G>A;refseq.codingCoordStr_4=c.*1932G>A;refseq.codingCoordStr_5=c.*1932G>A;refseq.codingCoordStr_6=c.*1932G>A;refseq.codingCoordStr_7=c.841C>T;refseq.codonCoord_7=281;refseq.end_1=71589392;refseq.end_2=71589392;refseq.end_3=71589392;refseq.end_4=71589392;refseq.end_5=71589392;refseq.end_6=71589392;refseq.end_7=71589392;refseq.frame_7=0;refseq.functionalClass_7=nonsense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=4111;refseq.mrnaCoord_2=4082;refseq.mrnaCoord_3=4235;refseq.mrnaCoord_4=4058;refseq.mrnaCoord_5=4151;refseq.mrnaCoord_6=3989;refseq.mrnaCoord_7=924;refseq.name2_1=EXOC7;refseq.name2_2=EXOC7;refseq.name2_3=EXOC7;refseq.name2_4=EXOC7;refseq.name2_5=EXOC7;refseq.name2_6=EXOC7;refseq.name2_7=ZACN;refseq.name_1=NR_028133;refseq.name_2=NM_001013839;refseq.name_3=NM_001145297;refseq.name_4=NM_001145298;refseq.name_5=NM_001145299;refseq.name_6=NM_015219;refseq.name_7=NM_180990;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.positionType_4=utr3;refseq.positionType_5=utr3;refseq.positionType_6=utr3;refseq.positionType_7=CDS;refseq.proteinCoordStr_7=p.Q281*;refseq.referenceAA_7=Gln;refseq.referenceCodon_7=CAG;refseq.spliceDist_1=-711;refseq.spliceDist_2=-711;refseq.spliceDist_3=-711;refseq.spliceDist_4=-711;refseq.spliceDist_5=-711;refseq.spliceDist_6=-711;refseq.spliceDist_7=-40;refseq.start_1=71589392;refseq.start_2=71589392;refseq.start_3=71589392;refseq.start_4=71589392;refseq.start_5=71589392;refseq.start_6=71589392;refseq.start_7=71589392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=+;refseq.variantAA_7=Stop;refseq.variantCodon_7=TAG;set=Intersection GT 0/1 chr17 71645569 . C T 37.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=88.39;MQ0=0;QD=5.33;RankSumP=0.700000;SB=-44.54;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.726G>A;refseq.codonCoord=242;refseq.end=71645569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_001454;refseq.name2=FOXJ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T242T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=228;refseq.start=71645569;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap-filterIngatk GT 0/1 chr17 71663961 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=481;Dels=0.00;HRun=2;HaplotypeScore=21.00;MQ=98.67;MQ0=0;OQ=9090.95;QD=18.90;RankSumP=0.453923;SB=-2603.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1450T>C;refseq.codonCoord=484;refseq.end=71663961;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_052916;refseq.name2=RNF157;refseq.positionType=CDS;refseq.proteinCoordStr=p.L484L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=37;refseq.start=71663961;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr17 71675354 . G A 253.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=332;Dels=0.00;HRun=0;HaplotypeScore=7.45;MQ=96.91;MQ0=0;OQ=6939.23;QD=20.90;RankSumP=0.213391;SB=-2425.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.416C>T;refseq.codonCoord=139;refseq.end=71675354;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_052916;refseq.name2=RNF157;refseq.positionType=CDS;refseq.proteinCoordStr=p.T139M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-28;refseq.start=71675354;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr17 71675416 . G A 298.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=450;Dels=0.00;HRun=0;HaplotypeScore=10.08;MQ=98.57;MQ0=0;OQ=7481.49;QD=16.63;RankSumP=0.463155;SB=-2677.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.354C>T;refseq.codonCoord=118;refseq.end=71675416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_052916;refseq.name2=RNF157;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y118Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=58;refseq.start=71675416;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr17 71773272 . T C 91.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=90.16;MQ0=0;OQ=2119.33;QD=30.71;RankSumP=1.00000;SB=-448.81;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.91T>C;refseq.codonCoord=31;refseq.end=71773272;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_182565;refseq.name2=FAM100B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L31L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-30;refseq.start=71773272;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr17 71797677 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=3;HaplotypeScore=4.74;MQ=98.61;MQ0=0;OQ=1996.53;QD=11.15;RankSumP=0.300204;SB=-367.97;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3291G>A;refseq.codonCoord=1097;refseq.end=71797677;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3471;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1097E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=71797677;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr17 71797701 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=98.70;MQ0=0;OQ=2774.25;QD=10.84;RankSumP=0.283853;SB=-811.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3267G>A;refseq.codonCoord=1089;refseq.end=71797701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3447;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1089T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-34;refseq.start=71797701;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr17 71798799 . C G 357.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=6.49;MQ=98.80;MQ0=0;OQ=3756.89;QD=20.09;RankSumP=0.451991;SB=-1607.86;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3106G>C;refseq.codonCoord=1036;refseq.end=71798799;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3286;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1036Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-109;refseq.start=71798799;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 71798984 . T C 185.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=18.62;MQ=98.70;MQ0=0;OQ=5016.59;QD=16.72;RankSumP=0.231596;SB=-1623.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2921A>G;refseq.codonCoord=974;refseq.end=71798984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3101;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H974R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-294;refseq.start=71798984;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr17 71799189 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=663;Dels=0.00;HRun=0;HaplotypeScore=13.18;MQ=98.78;MQ0=0;OQ=14047.90;QD=21.19;RankSumP=0.197744;SB=-5417.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2716C>T;refseq.codonCoord=906;refseq.end=71799189;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2896;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H906Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-499;refseq.start=71799189;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr17 71799857 . T C 191.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=12.45;MQ=83.13;MQ0=2;OQ=6087.31;QD=16.06;RankSumP=0.0825092;SB=-2116.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2048A>G;refseq.codonCoord=683;refseq.end=71799857;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2228;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H683R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1167;refseq.start=71799857;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr17 71800005 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431086;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1900G>A;refseq.codonCoord=634;refseq.end=71800005;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2080;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G634S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-1315;refseq.start=71800005;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr17 71800016 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.328263;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1889T>C;refseq.codonCoord=630;refseq.end=71800016;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2069;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I630T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-1326;refseq.start=71800016;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=soap GT 0/1 chr17 71800017 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0310925;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1888A>G;refseq.codonCoord=630;refseq.end=71800017;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2068;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I630V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-1327;refseq.start=71800017;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap GT 1/0 chr17 71801095 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=17.75;MQ=98.88;MQ0=0;OQ=8990.16;QD=20.43;RankSumP=0.315890;SB=-3724.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.810C>T;refseq.codonCoord=270;refseq.end=71801095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V270V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=603;refseq.start=71801095;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr17 71801300 . A G 297.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=13.82;MQ=98.63;MQ0=0;OQ=6261.22;QD=17.30;RankSumP=0.215229;SB=-1713.31;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.605T>C;refseq.codonCoord=202;refseq.end=71801300;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=785;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L202S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=398;refseq.start=71801300;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr17 71801434 . G A 250.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=9.24;MQ=98.86;MQ0=0;OQ=4772.99;QD=17.61;RankSumP=0.211218;SB=-1712.80;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.471C>T;refseq.codonCoord=157;refseq.end=71801434;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G157G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=264;refseq.start=71801434;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr17 71801470 . C T 169.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=7.56;MQ=98.68;MQ0=0;OQ=2921.00;QD=15.54;RankSumP=0.435009;SB=-868.91;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.435G>A;refseq.codonCoord=145;refseq.end=71801470;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=615;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G145G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=228;refseq.start=71801470;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr17 71801503 . A G 316.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=98.63;MQ0=0;OQ=2603.94;QD=16.91;RankSumP=0.380827;SB=-1320.92;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.402T>C;refseq.codonCoord=134;refseq.end=71801503;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=582;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S134S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=195;refseq.start=71801503;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr17 71801692 . T A 363.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=98.79;MQ0=0;OQ=6949.76;QD=18.53;RankSumP=0.265892;SB=-1601.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.213A>T;refseq.codonCoord=71;refseq.end=71801692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_032134;refseq.name2=QRICH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S71S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=71801692;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr17 71819332 . T C 299.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=14.83;MQ=98.75;MQ0=0;OQ=7275.26;QD=19.35;RankSumP=0.496269;SB=-2965.19;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1044A>G;refseq.codonCoord=348;refseq.end=71819332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1490;refseq.name=NM_002766;refseq.name2=PRPSAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q348Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=45;refseq.start=71819332;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 71893162 . G A 42.39 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.92;MQ0=0;QD=10.60;RankSumP=0.500000;SB=-44.54;SecondBestBaseQ=25;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.-159G>A;refseq.codingCoordStr_2=c.-159G>A;refseq.codingCoordStr_3=c.-159G>A;refseq.codingCoordStr_4=c.100G>A;refseq.codonCoord_4=34;refseq.end_1=71893162;refseq.end_2=71893162;refseq.end_3=71893162;refseq.end_4=71893162;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=234;refseq.mrnaCoord_2=279;refseq.mrnaCoord_3=234;refseq.mrnaCoord_4=597;refseq.name2_1=SPHK1;refseq.name2_2=SPHK1;refseq.name2_3=SPHK1;refseq.name2_4=SPHK1;refseq.name_1=NM_001142601;refseq.name_2=NM_001142602;refseq.name_3=NM_021972;refseq.name_4=NM_182965;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.A34T;refseq.referenceAA_4=Ala;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=36;refseq.spliceDist_2=-169;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.start_1=71893162;refseq.start_2=71893162;refseq.start_3=71893162;refseq.start_4=71893162;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACA;set=FilteredInAll GT 1/0 chr17 71893277 . C T 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=97.78;MQ0=0;OQ=100.53;QD=10.05;RankSumP=0.206349;SB=-74.06;SecondBestBaseQ=21;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.-44C>T;refseq.codingCoordStr_2=c.-44C>T;refseq.codingCoordStr_3=c.-44C>T;refseq.codingCoordStr_4=c.215C>T;refseq.codonCoord_4=72;refseq.end_1=71893277;refseq.end_2=71893277;refseq.end_3=71893277;refseq.end_4=71893277;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=349;refseq.mrnaCoord_2=394;refseq.mrnaCoord_3=349;refseq.mrnaCoord_4=712;refseq.name2_1=SPHK1;refseq.name2_2=SPHK1;refseq.name2_3=SPHK1;refseq.name2_4=SPHK1;refseq.name_1=NM_001142601;refseq.name_2=NM_001142602;refseq.name_3=NM_021972;refseq.name_4=NM_182965;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.T72I;refseq.referenceAA_4=Thr;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.spliceDist_3=-54;refseq.spliceDist_4=-54;refseq.start_1=71893277;refseq.start_2=71893277;refseq.start_3=71893277;refseq.start_4=71893277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ile;refseq.variantCodon_4=ATA;set=Intersection GT 0/1 chr17 71898745 . G T 0.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=123;Dels=0.00;HRun=1;HaplotypeScore=16.48;MQ=95.81;MQ0=0;OQ=325.93;QD=2.65;RankSumP=0.00000;SB=35.10;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3753C>A;refseq.codonCoord=1251;refseq.end=71898745;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3818;refseq.name=NM_022066;refseq.name2=UBE2O;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1251*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=545;refseq.start=71898745;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=filterInsoap-gatk GT 0/1 chr17 71986550 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.605A>C;refseq.codingCoordStr_2=c.692A>C;refseq.codonCoord_1=202;refseq.codonCoord_2=231;refseq.end_1=71986550;refseq.end_2=71986550;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=898;refseq.mrnaCoord_2=985;refseq.name2_1=RHBDF2;refseq.name2_2=RHBDF2;refseq.name_1=NM_001005498;refseq.name_2=NM_024599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H202P;refseq.proteinCoordStr_2=p.H231P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=71986550;refseq.start_2=71986550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 71986619 . G A 174.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.11;MQ0=0;OQ=946.55;QD=35.06;RankSumP=1.00000;SB=-52.67;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.536C>T;refseq.codingCoordStr_2=c.623C>T;refseq.codonCoord_1=179;refseq.codonCoord_2=208;refseq.end_1=71986619;refseq.end_2=71986619;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=829;refseq.mrnaCoord_2=916;refseq.name2_1=RHBDF2;refseq.name2_2=RHBDF2;refseq.name_1=NM_001005498;refseq.name_2=NM_024599;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P179L;refseq.proteinCoordStr_2=p.P208L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=68;refseq.spliceDist_2=68;refseq.start_1=71986619;refseq.start_2=71986619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr17 71987570 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.78;MQ0=0;OQ=464.77;QD=18.59;RankSumP=0.254004;SB=-177.21;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.199G>T;refseq.codonCoord_2=67;refseq.end_1=71989041;refseq.end_2=71987570;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=492;refseq.name2_1=RHBDF2;refseq.name2_2=RHBDF2;refseq.name_1=NM_001005498;refseq.name_2=NM_024599;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A67S;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=49;refseq.start_1=71987542;refseq.start_2=71987570;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr17 72134017 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1364A>G;refseq.codonCoord=455;refseq.end=72134017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1538;refseq.name=NM_018414;refseq.name2=ST6GALNAC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E455G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-52;refseq.start=72134017;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr17 72244102 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=25.27;MQ=95.54;MQ0=0;OQ=2686.85;QD=21.32;RankSumP=1.00000;SB=-262.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.402T>C;refseq.codonCoord=134;refseq.end=72244102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=572;refseq.name=NM_003016;refseq.name2=SFRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S134S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=40;refseq.start=72244102;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr17 72244694 . G A 109.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=6.44;MQ=98.35;MQ0=0;OQ=3219.08;QD=33.19;RankSumP=1.00000;SB=-1156.69;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.144C>T;refseq.codonCoord=48;refseq.end=72244694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=314;refseq.name=NM_003016;refseq.name2=SFRS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D48D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-219;refseq.start=72244694;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr17 72454073 . C T 142.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=10.24;MQ=98.39;MQ0=0;OQ=2565.41;QD=12.83;RankSumP=0.294788;SB=-1064.39;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1863C>T;refseq.codingCoordStr_2=c.1896C>T;refseq.codonCoord_1=621;refseq.codonCoord_2=632;refseq.end_1=72454073;refseq.end_2=72454073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2177;refseq.mrnaCoord_2=1999;refseq.name2_1=MGAT5B;refseq.name2_2=MGAT5B;refseq.name_1=NM_144677;refseq.name_2=NM_198955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y621Y;refseq.proteinCoordStr_2=p.Y632Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=72454073;refseq.start_2=72454073;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr17 72597029 . G A 232.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=98.36;MQ0=0;OQ=1501.01;QD=15.01;RankSumP=0.167676;SB=-622.03;SecondBestBaseQ=33;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.end_1=72600910;refseq.end_2=72597029;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=46;refseq.name2_1=C17orf86;refseq.name2_2=SCARNA16;refseq.name_1=NR_027058;refseq.name_2=NR_003013;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=46;refseq.start_1=72596959;refseq.start_2=72597029;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr17 72702441 . A C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=2;HaplotypeScore=3.61;MQ=98.62;MQ0=0;OQ=13107.20;QD=40.45;RankSumP=1.00000;SB=-6158.86;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.562A>C;refseq.codingCoordStr_2=c.562A>C;refseq.codingCoordStr_3=c.562A>C;refseq.codingCoordStr_4=c.460A>C;refseq.codingCoordStr_5=c.562A>C;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.codonCoord_3=188;refseq.codonCoord_4=154;refseq.codonCoord_5=188;refseq.end_1=72702441;refseq.end_2=72702441;refseq.end_3=72702441;refseq.end_4=72702441;refseq.end_5=72702441;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=882;refseq.mrnaCoord_2=882;refseq.mrnaCoord_3=878;refseq.mrnaCoord_4=670;refseq.mrnaCoord_5=829;refseq.name2_1=SEC14L1;refseq.name2_2=SEC14L1;refseq.name2_3=SEC14L1;refseq.name2_4=SEC14L1;refseq.name2_5=SEC14L1;refseq.name_1=NM_001039573;refseq.name_2=NM_001143998;refseq.name_3=NM_001143999;refseq.name_4=NM_001144001;refseq.name_5=NM_003003;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T188P;refseq.proteinCoordStr_2=p.T188P;refseq.proteinCoordStr_3=p.T188P;refseq.proteinCoordStr_4=p.T154P;refseq.proteinCoordStr_5=p.T188P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.spliceDist_3=88;refseq.spliceDist_4=88;refseq.spliceDist_5=88;refseq.start_1=72702441;refseq.start_2=72702441;refseq.start_3=72702441;refseq.start_4=72702441;refseq.start_5=72702441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=Intersection GT 1/1 chr17 72721662 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.chr_5=chr17;refseq.codingCoordStr_1=c.2110T>C;refseq.codingCoordStr_2=c.2110T>C;refseq.codingCoordStr_3=c.2110T>C;refseq.codingCoordStr_4=c.2008T>C;refseq.codingCoordStr_5=c.2110T>C;refseq.codonCoord_1=704;refseq.codonCoord_2=704;refseq.codonCoord_3=704;refseq.codonCoord_4=670;refseq.codonCoord_5=704;refseq.end_1=72721662;refseq.end_2=72721662;refseq.end_3=72721662;refseq.end_4=72721662;refseq.end_5=72721662;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2430;refseq.mrnaCoord_2=2430;refseq.mrnaCoord_3=2426;refseq.mrnaCoord_4=2218;refseq.mrnaCoord_5=2377;refseq.name2_1=SEC14L1;refseq.name2_2=SEC14L1;refseq.name2_3=SEC14L1;refseq.name2_4=SEC14L1;refseq.name2_5=SEC14L1;refseq.name_1=NM_001039573;refseq.name_2=NM_001143998;refseq.name_3=NM_001143999;refseq.name_4=NM_001144001;refseq.name_5=NM_003003;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S704P;refseq.proteinCoordStr_2=p.S704P;refseq.proteinCoordStr_3=p.S704P;refseq.proteinCoordStr_4=p.S670P;refseq.proteinCoordStr_5=p.S704P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.spliceDist_1=-35;refseq.spliceDist_2=68;refseq.spliceDist_3=68;refseq.spliceDist_4=68;refseq.spliceDist_5=68;refseq.start_1=72721662;refseq.start_2=72721662;refseq.start_3=72721662;refseq.start_4=72721662;refseq.start_5=72721662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr17 73631853 . A C 31 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=3;RankSumP=0.000177404;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.894T>G;refseq.codingCoordStr_2=c.894T>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.end_1=73631853;refseq.end_2=73631853;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1137;refseq.mrnaCoord_2=1035;refseq.name2_1=TMC6;refseq.name2_2=TMC6;refseq.name_1=NM_001127198;refseq.name_2=NM_007267;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G298G;refseq.proteinCoordStr_2=p.G298G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=73631853;refseq.start_2=73631853;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 73645016 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=6.80521e-09;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1233C>A;refseq.codonCoord=411;refseq.end=73645016;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_152468;refseq.name2=TMC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y411*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-19;refseq.start=73645016;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr17 73678534 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=174;Dels=0.00;HRun=3;HaplotypeScore=5.08;MQ=97.03;MQ0=0;OQ=4110.76;QD=23.63;RankSumP=0.360527;SB=-219.25;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.141C>G;refseq.codonCoord=47;refseq.end=73678534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_004710;refseq.name2=SYNGR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G47G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=42;refseq.start=73678534;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr17 73731186 . G A 135.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=11.33;MQ=98.79;MQ0=0;OQ=10140.15;QD=38.41;RankSumP=1.00000;SB=-4549.24;SecondBestBaseQ=21;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_2=c.267G>A;refseq.codingCoordStr_3=c.454G>A;refseq.codingCoordStr_4=c.385G>A;refseq.codonCoord_2=89;refseq.codonCoord_3=152;refseq.codonCoord_4=129;refseq.end_1=73731186;refseq.end_2=73731186;refseq.end_3=73731186;refseq.end_4=73731186;refseq.frame_2=2;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=824;refseq.mrnaCoord_2=388;refseq.mrnaCoord_3=575;refseq.mrnaCoord_4=506;refseq.name2_1=EPR1;refseq.name2_2=BIRC5;refseq.name2_3=BIRC5;refseq.name2_4=BIRC5;refseq.name_1=NR_002219;refseq.name_2=NM_001012270;refseq.name_3=NM_001012271;refseq.name_4=NM_001168;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R89R;refseq.proteinCoordStr_3=p.E152K;refseq.proteinCoordStr_4=p.E129K;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=-47;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.spliceDist_4=46;refseq.start_1=73731186;refseq.start_2=73731186;refseq.start_3=73731186;refseq.start_4=73731186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_2=CGA;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr17 73886358 . C T 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=13;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=95.45;MQ0=0;OQ=345.19;QD=26.55;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.17C>T;refseq.codonCoord=6;refseq.end=73886358;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=29;refseq.name=NM_024419;refseq.name2=PGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=29;refseq.start=73886358;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr17 73900177 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.169T>C;refseq.codonCoord=57;refseq.end=73900177;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_024419;refseq.name2=PGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L57L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=73900177;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr17 73907025 . C T 302.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=345;Dels=0.00;HRun=0;HaplotypeScore=10.67;MQ=98.45;MQ0=0;OQ=5701.45;QD=16.53;RankSumP=0.0211141;SB=-1348.41;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.513C>T;refseq.codonCoord=171;refseq.end=73907025;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_024419;refseq.name2=PGS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G171G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=73907025;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 74311390 . G A 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.86;MQ0=0;OQ=188.09;QD=9.90;RankSumP=0.563603;SB=-69.28;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2482C>T;refseq.codonCoord=828;refseq.end=74311390;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2807;refseq.name=NM_025090;refseq.name2=USP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.R828C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=266;refseq.start=74311390;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr17 74311455 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=5.56;MQ=97.97;MQ0=0;OQ=230.58;QD=6.99;RankSumP=0.444441;SB=-55.86;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2417A>G;refseq.codonCoord=806;refseq.end=74311455;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2742;refseq.name=NM_025090;refseq.name2=USP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q806R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=201;refseq.start=74311455;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr17 74311493 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.79;MQ0=0;OQ=736.12;QD=13.38;RankSumP=0.679460;SB=-210.95;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2379T>C;refseq.codonCoord=793;refseq.end=74311493;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2704;refseq.name=NM_025090;refseq.name2=USP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.S793S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=163;refseq.start=74311493;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr17 74314669 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2052A>C;refseq.codonCoord=684;refseq.end=74314669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2377;refseq.name=NM_025090;refseq.name2=USP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.P684P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-34;refseq.start=74314669;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 74328685 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=98.58;MQ0=0;OQ=1368.95;QD=10.86;RankSumP=0.362964;SB=-699.28;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.811G>A;refseq.codonCoord=271;refseq.end=74328685;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1136;refseq.name=NM_025090;refseq.name2=USP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.V271I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-18;refseq.start=74328685;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr17 74378612 . C T 166.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=18.27;MQ=98.68;MQ0=0;OQ=9880.31;QD=17.30;RankSumP=0.0737153;SB=-3655.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.303G>A;refseq.codonCoord=101;refseq.end=74378612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_003255;refseq.name2=TIMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S101S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-38;refseq.start=74378612;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr17 74482474 . A G 137.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=13.46;MQ=98.67;MQ0=0;OQ=5477.05;QD=33.19;RankSumP=1.00000;SB=-2044.50;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.267T>C;refseq.codonCoord=89;refseq.end=74482474;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_005567;refseq.name2=LGALS3BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D89D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=23;refseq.start=74482474;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr17 74551723 . T C 241.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.72;MQ0=0;OQ=2285.93;QD=14.94;RankSumP=0.264048;SB=-729.01;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.78T>C;refseq.codingCoordStr_3=c.78T>C;refseq.codonCoord_2=26;refseq.codonCoord_3=26;refseq.end_1=74554221;refseq.end_2=74551723;refseq.end_3=74551723;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=418;refseq.mrnaCoord_3=236;refseq.name2_1=C1QTNF1;refseq.name2_2=C1QTNF1;refseq.name2_3=C1QTNF1;refseq.name_1=NM_198594;refseq.name_2=NM_030968;refseq.name_3=NM_198593;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R26R;refseq.proteinCoordStr_3=p.R26R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_2=-78;refseq.spliceDist_3=-78;refseq.start_1=74532182;refseq.start_2=74551723;refseq.start_3=74551723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/0 chr17 74551780 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=5.79;MQ=98.72;MQ0=0;OQ=1018.07;QD=22.62;RankSumP=0.0949545;SB=-181.83;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.135G>C;refseq.codingCoordStr_3=c.135G>C;refseq.codonCoord_2=45;refseq.codonCoord_3=45;refseq.end_1=74554221;refseq.end_2=74551780;refseq.end_3=74551780;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=475;refseq.mrnaCoord_3=293;refseq.name2_1=C1QTNF1;refseq.name2_2=C1QTNF1;refseq.name2_3=C1QTNF1;refseq.name_1=NM_198594;refseq.name_2=NM_030968;refseq.name_3=NM_198593;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S45S;refseq.proteinCoordStr_3=p.S45S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=74532182;refseq.start_2=74551780;refseq.start_3=74551780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 0/1 chr17 74554313 . C T 184.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=14.36;MQ=98.67;MQ0=0;OQ=2188.72;QD=15.09;RankSumP=0.476524;SB=-915.87;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.237C>T;refseq.codingCoordStr_2=c.237C>T;refseq.codingCoordStr_3=c.-10C>T;refseq.codonCoord_1=79;refseq.codonCoord_2=79;refseq.end_1=74554313;refseq.end_2=74554313;refseq.end_3=74554313;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=577;refseq.mrnaCoord_2=395;refseq.mrnaCoord_3=408;refseq.name2_1=C1QTNF1;refseq.name2_2=C1QTNF1;refseq.name2_3=C1QTNF1;refseq.name_1=NM_030968;refseq.name_2=NM_198593;refseq.name_3=NM_198594;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.P79P;refseq.proteinCoordStr_2=p.P79P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=74554313;refseq.start_2=74554313;refseq.start_3=74554313;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr17 74555597 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=214;Dels=0.00;HRun=0;HaplotypeScore=3.04;MQ=98.85;MQ0=0;OQ=3160.54;QD=14.77;RankSumP=0.371149;SB=-731.67;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.678C>T;refseq.codingCoordStr_2=c.678C>T;refseq.codingCoordStr_3=c.432C>T;refseq.codonCoord_1=226;refseq.codonCoord_2=226;refseq.codonCoord_3=144;refseq.end_1=74555597;refseq.end_2=74555597;refseq.end_3=74555597;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1018;refseq.mrnaCoord_2=836;refseq.mrnaCoord_3=849;refseq.name2_1=C1QTNF1;refseq.name2_2=C1QTNF1;refseq.name2_3=C1QTNF1;refseq.name_1=NM_030968;refseq.name_2=NM_198593;refseq.name_3=NM_198594;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G226G;refseq.proteinCoordStr_2=p.G226G;refseq.proteinCoordStr_3=p.G144G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=383;refseq.spliceDist_2=383;refseq.spliceDist_3=383;refseq.start_1=74555597;refseq.start_2=74555597;refseq.start_3=74555597;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr17 74582635 . C A 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.79;MQ0=0;OQ=53.83;QD=4.89;RankSumP=0.634199;SB=-34.92;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.14C>A;refseq.codonCoord=5;refseq.end=74582635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=22;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A5E;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=22;refseq.start=74582635;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chr17 74585161 . G A 162.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=429.92;QD=16.54;RankSumP=0.699686;SB=-117.93;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.201G>A;refseq.codonCoord=67;refseq.end=74585161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P67P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-14;refseq.start=74585161;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr17 74587262 . T C 10771.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=686;Dels=0.00;HRun=5;HaplotypeScore=21.12;MQ=96.48;MQ0=0;QD=15.70;RankSumP=0.448578;SB=-3200.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.513T>C;refseq.codonCoord=171;refseq.end=74587262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.I171I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-53;refseq.start=74587262;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/0 chr17 74587265 . C T 10296.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=668;Dels=0.00;HRun=0;HaplotypeScore=20.98;MQ=96.45;MQ0=0;QD=15.41;RankSumP=0.0288015;SB=-3186.50;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.516C>T;refseq.codonCoord=172;refseq.end=74587265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P172P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-50;refseq.start=74587265;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 0/1 chr17 74587268 rs3744185 A G 8733.09 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=636;Dels=0.00;HRun=1;HaplotypeScore=25.28;MQ=96.34;MQ0=0;QD=13.73;SB=-2278.41;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.519A>G;refseq.codonCoord=173;refseq.end=74587268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P173P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-47;refseq.start=74587268;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:378,256:591:-872.31,-177.99,-1578.31:99 chr17 74587980 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.662T>G;refseq.codonCoord=221;refseq.end=74587980;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.V221G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-62;refseq.start=74587980;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr17 74588035 . G T 146.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=98.04;MQ0=0;OQ=2287.37;QD=14.48;RankSumP=0.229368;SB=-878.19;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.717G>T;refseq.codonCoord=239;refseq.end=74588035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S239S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=74588035;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr17 74593383 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.83;MQ0=0;OQ=727.91;QD=11.74;RankSumP=0.178278;SB=-166.18;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1787G>A;refseq.codonCoord=596;refseq.end=74593383;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1795;refseq.name=NM_001042573;refseq.name2=ENGASE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S596N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-29;refseq.start=74593383;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr17 75319507 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=73.16;MQ0=8;OQ=585.69;QD=9.30;RankSumP=0.0794066;SB=-132.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.11T>C;refseq.codonCoord=4;refseq.end=75319507;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=31;refseq.name=NM_178543;refseq.name2=ENPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=31;refseq.start=75319507;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr17 75319640 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=6.44;MQ=72.68;MQ0=4;OQ=2471.89;QD=11.19;RankSumP=0.284059;SB=-902.01;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.144T>C;refseq.codonCoord=48;refseq.end=75319640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_178543;refseq.name2=ENPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D48D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-110;refseq.start=75319640;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr17 75323693 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.656T>G;refseq.codonCoord=219;refseq.end=75323693;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=676;refseq.name=NM_178543;refseq.name2=ENPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V219G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=257;refseq.start=75323693;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 75323934 . C G 359.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=98.66;MQ0=0;OQ=4259.89;QD=19.63;RankSumP=0.345031;SB=-1723.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.897C>G;refseq.codonCoord=299;refseq.end=75323934;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=917;refseq.name=NM_178543;refseq.name2=ENPP7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A299A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-130;refseq.start=75323934;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr17 75373079 . G A 169.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.05;MQ0=0;OQ=774.14;QD=15.18;RankSumP=0.198629;SB=-227.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1242G>A;refseq.codonCoord=414;refseq.end=75373079;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1300;refseq.name=NM_005189;refseq.name2=CBX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L414L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=954;refseq.start=75373079;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr17 75383249 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.99;MQ0=0;OQ=243.95;QD=11.62;RankSumP=0.104144;SB=-29.34;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.950G>T;refseq.codonCoord=317;refseq.end=75383249;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_020649;refseq.name2=CBX8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G317V;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-479;refseq.start=75383249;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr17 75423165 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=5;RankSumP=0.00000;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.871T>C;refseq.codonCoord=291;refseq.end=75423165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_003655;refseq.name2=CBX4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S291P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=625;refseq.start=75423165;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 75541086 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.81;MQ0=0;OQ=400.17;QD=12.51;RankSumP=0.584455;SB=-82.54;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.906C>T;refseq.codonCoord=302;refseq.end=75541086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_019020;refseq.name2=TBC1D16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D302D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-36;refseq.start=75541086;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr17 75628319 . G C 183.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=98.87;MQ0=0;OQ=7168.51;QD=42.67;RankSumP=1.00000;SB=-2240.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.207G>C;refseq.codonCoord=69;refseq.end=75628319;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=114;refseq.start=75628319;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr17 75670352 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=98.89;MQ0=0;OQ=2087.74;QD=14.20;RankSumP=0.114529;SB=-820.26;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1889C>T;refseq.codonCoord=630;refseq.end=75670352;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1916;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.A630V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=83;refseq.start=75670352;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr17 75670353 . T G 113.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=98.90;MQ0=0;OQ=2254.09;QD=14.64;RankSumP=0.0826828;SB=-967.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1890T>G;refseq.codonCoord=630;refseq.end=75670353;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1917;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.A630A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=84;refseq.start=75670353;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr17 75685647 . T C 265.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=10.44;MQ=98.65;MQ0=0;OQ=7893.10;QD=38.32;RankSumP=1.00000;SB=-3280.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3030T>C;refseq.codonCoord=1010;refseq.end=75685647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3057;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1010D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=75685647;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr17 75687950 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=98.31;MQ0=0;OQ=3213.98;QD=13.28;RankSumP=0.418387;SB=-1540.86;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3210A>G;refseq.codonCoord=1070;refseq.end=75687950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3237;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1070T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=30;refseq.start=75687950;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr17 75688030 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.3290G>C;refseq.codonCoord=1097;refseq.end=75688030;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3317;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1097P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=110;refseq.start=75688030;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 75688157 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=3;HaplotypeScore=5.85;MQ=98.83;MQ0=0;OQ=2002.02;QD=15.05;RankSumP=0.449823;SB=-589.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3417A>G;refseq.codonCoord=1139;refseq.end=75688157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3444;refseq.name=NM_017950;refseq.name2=CCDC40;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1139P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=237;refseq.start=75688157;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr17 75693304 . T C 181.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=490.35;QD=32.69;RankSumP=1.00000;SB=-262.76;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.324T>C;refseq.codingCoordStr_2=c.324T>C;refseq.codingCoordStr_3=c.324T>C;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.end_1=75693304;refseq.end_2=75693304;refseq.end_3=75693304;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=691;refseq.mrnaCoord_2=506;refseq.mrnaCoord_3=426;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C108C;refseq.proteinCoordStr_2=p.C108C;refseq.proteinCoordStr_3=p.C108C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=-223;refseq.spliceDist_2=-223;refseq.spliceDist_3=-223;refseq.start_1=75693304;refseq.start_2=75693304;refseq.start_3=75693304;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 1/1 chr17 75694192 . A G 241.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=98.95;MQ0=0;OQ=9943.47;QD=34.89;RankSumP=1.00000;SB=-4732.60;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.596A>G;refseq.codingCoordStr_2=c.596A>G;refseq.codingCoordStr_3=c.596A>G;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.codonCoord_3=199;refseq.end_1=75694192;refseq.end_2=75694192;refseq.end_3=75694192;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=963;refseq.mrnaCoord_2=778;refseq.mrnaCoord_3=698;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H199R;refseq.proteinCoordStr_2=p.H199R;refseq.proteinCoordStr_3=p.H199R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=75694192;refseq.start_2=75694192;refseq.start_3=75694192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr17 75694238 . C T 179.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=98.66;MQ0=0;OQ=3813.71;QD=21.67;RankSumP=0.310725;SB=-1152.66;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.642C>T;refseq.codingCoordStr_2=c.642C>T;refseq.codingCoordStr_3=c.642C>T;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.codonCoord_3=214;refseq.end_1=75694238;refseq.end_2=75694238;refseq.end_3=75694238;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1009;refseq.mrnaCoord_2=824;refseq.mrnaCoord_3=744;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S214S;refseq.proteinCoordStr_2=p.S214S;refseq.proteinCoordStr_3=p.S214S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=75694238;refseq.start_2=75694238;refseq.start_3=75694238;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr17 75694264 . G A 305.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=98.37;MQ0=0;OQ=5840.35;QD=36.05;RankSumP=1.00000;SB=-2452.74;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.668G>A;refseq.codingCoordStr_2=c.668G>A;refseq.codingCoordStr_3=c.668G>A;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.codonCoord_3=223;refseq.end_1=75694264;refseq.end_2=75694264;refseq.end_3=75694264;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1035;refseq.mrnaCoord_2=850;refseq.mrnaCoord_3=770;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R223H;refseq.proteinCoordStr_2=p.R223H;refseq.proteinCoordStr_3=p.R223H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=75694264;refseq.start_2=75694264;refseq.start_3=75694264;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr17 75697099 . G A 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=11.11;MQ=96.90;MQ0=0;OQ=1433.59;QD=23.12;RankSumP=1.00000;SB=-376.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1203G>A;refseq.codingCoordStr_2=c.1203G>A;refseq.codingCoordStr_3=c.1203G>A;refseq.codonCoord_1=401;refseq.codonCoord_2=401;refseq.codonCoord_3=401;refseq.end_1=75697099;refseq.end_2=75697099;refseq.end_3=75697099;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1570;refseq.mrnaCoord_2=1385;refseq.mrnaCoord_3=1305;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q401Q;refseq.proteinCoordStr_2=p.Q401Q;refseq.proteinCoordStr_3=p.Q401Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=75697099;refseq.start_2=75697099;refseq.start_3=75697099;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr17 75699364 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=97.99;MQ0=0;OQ=662.05;QD=10.03;RankSumP=0.114339;SB=-270.20;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1581G>A;refseq.codingCoordStr_2=c.1581G>A;refseq.codingCoordStr_3=c.1581G>A;refseq.codonCoord_1=527;refseq.codonCoord_2=527;refseq.codonCoord_3=527;refseq.end_1=75699364;refseq.end_2=75699364;refseq.end_3=75699364;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1948;refseq.mrnaCoord_2=1763;refseq.mrnaCoord_3=1683;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R527R;refseq.proteinCoordStr_2=p.R527R;refseq.proteinCoordStr_3=p.R527R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.spliceDist_3=30;refseq.start_1=75699364;refseq.start_2=75699364;refseq.start_3=75699364;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/0 chr17 75701704 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=337.46;QD=10.89;RankSumP=0.117563;SB=-165.70;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.2133A>G;refseq.codingCoordStr_2=c.2133A>G;refseq.codingCoordStr_3=c.2133A>G;refseq.codonCoord_1=711;refseq.codonCoord_2=711;refseq.codonCoord_3=711;refseq.end_1=75701704;refseq.end_2=75701704;refseq.end_3=75701704;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2500;refseq.mrnaCoord_2=2315;refseq.mrnaCoord_3=2235;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T711T;refseq.proteinCoordStr_2=p.T711T;refseq.proteinCoordStr_3=p.T711T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.spliceDist_3=-57;refseq.start_1=75701704;refseq.start_2=75701704;refseq.start_3=75701704;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chr17 75706000 . G A 207.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=97.88;MQ0=0;OQ=2018.22;QD=35.41;RankSumP=1.00000;SB=-491.65;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.2338G>A;refseq.codingCoordStr_2=c.2338G>A;refseq.codingCoordStr_3=c.2338G>A;refseq.codonCoord_1=780;refseq.codonCoord_2=780;refseq.codonCoord_3=780;refseq.end_1=75706000;refseq.end_2=75706000;refseq.end_3=75706000;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2705;refseq.mrnaCoord_2=2520;refseq.mrnaCoord_3=2440;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V780I;refseq.proteinCoordStr_2=p.V780I;refseq.proteinCoordStr_3=p.V780I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=75706000;refseq.start_2=75706000;refseq.start_3=75706000;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 1/1 chr17 75706658 . G A 316.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.03;MQ0=0;OQ=2418.13;QD=36.64;RankSumP=1.00000;SB=-1198.34;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.2553G>A;refseq.codingCoordStr_2=c.2553G>A;refseq.codingCoordStr_3=c.2553G>A;refseq.codonCoord_1=851;refseq.codonCoord_2=851;refseq.codonCoord_3=851;refseq.end_1=75706658;refseq.end_2=75706658;refseq.end_3=75706658;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2920;refseq.mrnaCoord_2=2735;refseq.mrnaCoord_3=2655;refseq.name2_1=GAA;refseq.name2_2=GAA;refseq.name2_3=GAA;refseq.name_1=NM_000152;refseq.name_2=NM_001079803;refseq.name_3=NM_001079804;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G851G;refseq.proteinCoordStr_2=p.G851G;refseq.proteinCoordStr_3=p.G851G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.start_1=75706658;refseq.start_2=75706658;refseq.start_3=75706658;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/1 chr17 75725883 . T C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.69013e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.880A>G;refseq.codonCoord=294;refseq.end=75725883;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_014740;refseq.name2=EIF4A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T294A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=13;refseq.start=75725883;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr17 75728427 . G A 157.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=333;Dels=0.00;HRun=1;HaplotypeScore=10.59;MQ=98.62;MQ0=0;OQ=5586.92;QD=16.78;RankSumP=0.0194248;SB=-1994.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.480C>T;refseq.codonCoord=160;refseq.end=75728427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_014740;refseq.name2=EIF4A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V160V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-26;refseq.start=75728427;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr17 75772590 . G A 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.60;MQ0=0;OQ=772.60;QD=35.12;RankSumP=1.00000;SB=-350.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.633G>A;refseq.codonCoord=211;refseq.end=75772590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_024110;refseq.name2=CARD14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E211E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-43;refseq.start=75772590;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr17 75780952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1295T>G;refseq.codingCoordStr_2=c.584T>G;refseq.codonCoord_1=432;refseq.codonCoord_2=195;refseq.end_1=75780952;refseq.end_2=75780952;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1489;refseq.mrnaCoord_2=744;refseq.name2_1=CARD14;refseq.name2_2=CARD14;refseq.name_1=NM_024110;refseq.name_2=NM_052819;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V432G;refseq.proteinCoordStr_2=p.V195G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=75780952;refseq.start_2=75780952;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 75786539 . G C 134.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=1.49;MQ=99.29;MQ0=0;OQ=2334.02;QD=13.89;RankSumP=0.131876;SB=-846.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1641G>C;refseq.codingCoordStr_2=c.930G>C;refseq.codonCoord_1=547;refseq.codonCoord_2=310;refseq.end_1=75786539;refseq.end_2=75786539;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1835;refseq.mrnaCoord_2=1090;refseq.name2_1=CARD14;refseq.name2_2=CARD14;refseq.name_1=NM_024110;refseq.name_2=NM_052819;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R547S;refseq.proteinCoordStr_2=p.R310S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=75786539;refseq.start_2=75786539;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr17 75793488 . C T 171.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.86;MQ0=0;OQ=1070.65;QD=16.73;RankSumP=0.0775769;SB=-119.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2458C>T;refseq.codonCoord=820;refseq.end=75793488;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2652;refseq.name=NM_024110;refseq.name2=CARD14;refseq.positionType=CDS;refseq.proteinCoordStr=p.R820W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=60;refseq.start=75793488;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr17 75798988 . C T 231.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=97.24;MQ0=0;OQ=619.38;QD=18.22;RankSumP=0.351548;SB=-318.84;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1367G>A;refseq.codonCoord=456;refseq.end=75798988;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1454;refseq.name=NM_000199;refseq.name2=SGSH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R456H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=418;refseq.start=75798988;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr17 75886825 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=187;Dels=0.00;HRun=2;HaplotypeScore=3.24;MQ=98.54;MQ0=0;OQ=3109.70;QD=16.63;RankSumP=0.357480;SB=-1069.32;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2269C>G;refseq.codingCoordStr_2=c.2122C>G;refseq.codonCoord_1=757;refseq.codonCoord_2=708;refseq.end_1=75886825;refseq.end_2=75886825;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2412;refseq.mrnaCoord_2=2265;refseq.name2_1=RNF213;refseq.name2_2=RNF213;refseq.name_1=NM_020914;refseq.name_2=NM_020954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H757D;refseq.proteinCoordStr_2=p.H708D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=75886825;refseq.start_2=75886825;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr17 75905609 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.84;MQ0=0;OQ=1475.59;QD=11.71;RankSumP=0.239254;SB=-661.13;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2985A>G;refseq.codingCoordStr_2=c.2838A>G;refseq.codonCoord_1=995;refseq.codonCoord_2=946;refseq.end_1=75905609;refseq.end_2=75905609;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3128;refseq.mrnaCoord_2=2981;refseq.name2_1=RNF213;refseq.name2_2=RNF213;refseq.name_1=NM_020914;refseq.name_2=NM_020954;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q995Q;refseq.proteinCoordStr_2=p.Q946Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=75905609;refseq.start_2=75905609;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr17 75907784 . A T 143.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1866.38;QD=16.97;RankSumP=0.252444;SB=-679.47;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.3101A>T;refseq.codonCoord_2=1034;refseq.end_1=75913414;refseq.end_2=75907784;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3244;refseq.name2_1=RNF213;refseq.name2_2=RNF213;refseq.name_1=NM_020914;refseq.name_2=NM_020954;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K1034M;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=200;refseq.start_1=75907718;refseq.start_2=75907784;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr17 75936580 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.9997T>G;refseq.codonCoord=3333;refseq.end=75936580;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=10140;refseq.name=NM_020914;refseq.name2=RNF213;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3333A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-102;refseq.start=75936580;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr17 75972195 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=200;Dels=0.00;HRun=2;HaplotypeScore=3.58;MQ=98.94;MQ0=0;OQ=2559.87;QD=12.80;RankSumP=0.197081;SB=-1246.83;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.14341A>G;refseq.codonCoord_2=4781;refseq.end_1=76003313;refseq.end_2=75972195;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=14484;refseq.name2_1=LOC100294362;refseq.name2_2=RNF213;refseq.name_1=NR_029376;refseq.name_2=NM_020914;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K4781E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=124;refseq.start_1=75943694;refseq.start_2=75972195;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr17 76059253 . T G 138.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=9.88;MQ=98.45;MQ0=0;OQ=3081.02;QD=12.58;RankSumP=0.353787;SB=-1344.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1254A>C;refseq.codonCoord=418;refseq.end=76059253;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1412;refseq.name=NM_002522;refseq.name2=NPTX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G418G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=177;refseq.start=76059253;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr17 76060297 . A G 117.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.14;MQ0=0;OQ=797.00;QD=19.44;RankSumP=0.402965;SB=-357.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.907T>C;refseq.codonCoord=303;refseq.end=76060297;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_002522;refseq.name2=NPTX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L303L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=76060297;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr17 76064028 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.530T>G;refseq.codonCoord=177;refseq.end=76064028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=688;refseq.name=NM_002522;refseq.name2=NPTX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V177G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=86;refseq.start=76064028;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 76434924 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=7.64;MQ=97.49;MQ0=0;OQ=940.40;QD=8.32;RankSumP=0.0356997;SB=-382.76;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1269C>T;refseq.codingCoordStr_2=c.1269C>T;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.end_1=76434924;refseq.end_2=76434924;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2074;refseq.mrnaCoord_2=2074;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G423G;refseq.proteinCoordStr_2=p.G423G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=76434924;refseq.start_2=76434924;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 0/1 chr17 76434969 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=9.21;MQ=97.26;MQ0=0;OQ=1573.67;QD=24.21;RankSumP=0.464744;SB=-282.58;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1314G>A;refseq.codingCoordStr_2=c.1314G>A;refseq.codonCoord_1=438;refseq.codonCoord_2=438;refseq.end_1=76434969;refseq.end_2=76434969;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2119;refseq.mrnaCoord_2=2119;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q438Q;refseq.proteinCoordStr_2=p.Q438Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=76434969;refseq.start_2=76434969;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr17 76480141 . T C 136.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.44;MQ0=0;OQ=1240.09;QD=13.48;RankSumP=0.0692132;SB=-398.64;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1536T>C;refseq.codingCoordStr_2=c.2010T>C;refseq.codonCoord_1=512;refseq.codonCoord_2=670;refseq.end_1=76480141;refseq.end_2=76480141;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2341;refseq.mrnaCoord_2=2815;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L512L;refseq.proteinCoordStr_2=p.L670L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=76480141;refseq.start_2=76480141;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr17 76480225 . A G 115.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=6.29;MQ=98.54;MQ0=0;OQ=636.08;QD=12.72;RankSumP=0.677727;SB=-343.30;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1620A>G;refseq.codingCoordStr_2=c.2094A>G;refseq.codonCoord_1=540;refseq.codonCoord_2=698;refseq.end_1=76480225;refseq.end_2=76480225;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2425;refseq.mrnaCoord_2=2899;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A540A;refseq.proteinCoordStr_2=p.A698A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=76480225;refseq.start_2=76480225;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr17 76511888 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=4;RankSumP=3.71158e-07;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2154C>G;refseq.codingCoordStr_2=c.2628C>G;refseq.codonCoord_1=718;refseq.codonCoord_2=876;refseq.end_1=76511888;refseq.end_2=76511888;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2959;refseq.mrnaCoord_2=3433;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G718G;refseq.proteinCoordStr_2=p.G876G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=76511888;refseq.start_2=76511888;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr17 76534153 . C T 308.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=6.11;MQ=98.37;MQ0=0;OQ=4094.44;QD=16.38;RankSumP=0.114919;SB=-1055.85;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2643C>T;refseq.codingCoordStr_2=c.3117C>T;refseq.codonCoord_1=881;refseq.codonCoord_2=1039;refseq.end_1=76534153;refseq.end_2=76534153;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3448;refseq.mrnaCoord_2=3922;refseq.name2_1=RPTOR;refseq.name2_2=RPTOR;refseq.name_1=NM_001163034;refseq.name_2=NM_020761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A881A;refseq.proteinCoordStr_2=p.A1039A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=76534153;refseq.start_2=76534153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr17 76704185 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=18.98;MQ=98.42;MQ0=0;OQ=2612.03;QD=8.35;RankSumP=0.194837;SB=-760.44;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.1556A>G;refseq.codingCoordStr_2=c.*39A>G;refseq.codingCoordStr_3=c.1556A>G;refseq.codonCoord_1=519;refseq.codonCoord_3=519;refseq.end_1=76704185;refseq.end_2=76704185;refseq.end_3=76704185;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1664;refseq.mrnaCoord_2=1710;refseq.mrnaCoord_3=1664;refseq.name2_1=BAIAP2;refseq.name2_2=BAIAP2;refseq.name2_3=BAIAP2;refseq.name_1=NM_001144888;refseq.name_2=NM_006340;refseq.name_3=NM_017451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q519R;refseq.proteinCoordStr_3=p.Q519R;refseq.referenceAA_1=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=76704185;refseq.start_2=76704185;refseq.start_3=76704185;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr17 76785171 . C T 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.90;MQ0=0;OQ=206.94;QD=6.90;RankSumP=0.737858;SB=-84.54;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1824G>A;refseq.codingCoordStr_2=c.1824G>A;refseq.codonCoord_1=608;refseq.codonCoord_2=608;refseq.end_1=76785171;refseq.end_2=76785171;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2024;refseq.mrnaCoord_2=2024;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A608A;refseq.proteinCoordStr_2=p.A608A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=76785171;refseq.start_2=76785171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr17 76786562 . A G 77.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.04;MQ0=0;OQ=664.42;QD=30.20;RankSumP=1.00000;SB=-286.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1418T>C;refseq.codingCoordStr_2=c.1418T>C;refseq.codonCoord_1=473;refseq.codonCoord_2=473;refseq.end_1=76786562;refseq.end_2=76786562;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1618;refseq.mrnaCoord_2=1618;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V473A;refseq.proteinCoordStr_2=p.V473A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=76786562;refseq.start_2=76786562;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 76787779 . T C 313.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.01;MQ0=0;OQ=1947.33;QD=35.41;RankSumP=1.00000;SB=-716.33;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1189A>G;refseq.codingCoordStr_2=c.1189A>G;refseq.codonCoord_1=397;refseq.codonCoord_2=397;refseq.end_1=76787779;refseq.end_2=76787779;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1389;refseq.mrnaCoord_2=1389;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T397A;refseq.proteinCoordStr_2=p.T397A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=76787779;refseq.start_2=76787779;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr17 76787819 . T C 87.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.89;MQ0=0;OQ=1913.48;QD=30.37;RankSumP=1.00000;SB=-573.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1149A>G;refseq.codingCoordStr_2=c.1149A>G;refseq.codonCoord_1=383;refseq.codonCoord_2=383;refseq.end_1=76787819;refseq.end_2=76787819;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1349;refseq.mrnaCoord_2=1349;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T383T;refseq.proteinCoordStr_2=p.T383T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=76787819;refseq.start_2=76787819;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr17 76788816 . T C 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=374.43;QD=26.75;RankSumP=1.00000;SB=-52.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.814A>G;refseq.codingCoordStr_2=c.814A>G;refseq.codonCoord_1=272;refseq.codonCoord_2=272;refseq.end_1=76788816;refseq.end_2=76788816;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1014;refseq.mrnaCoord_2=1014;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T272A;refseq.proteinCoordStr_2=p.T272A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=76788816;refseq.start_2=76788816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr17 76797373 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=2.98;MQ=99.00;MQ0=0;OQ=1530.20;QD=15.46;RankSumP=0.464188;SB=-648.62;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.222A>G;refseq.codingCoordStr_2=c.222A>G;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=76797373;refseq.end_2=76797373;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=422;refseq.name2_1=AZI1;refseq.name2_2=AZI1;refseq.name_1=NM_001009811;refseq.name_2=NM_014984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R74R;refseq.proteinCoordStr_2=p.R74R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=76797373;refseq.start_2=76797373;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr17 76817551 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=44;Dels=0.00;HRun=5;HaplotypeScore=1.27;MQ=97.17;MQ0=0;OQ=401.66;QD=9.13;RankSumP=0.618240;SB=-67.30;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1350A>G;refseq.codonCoord=450;refseq.end=76817551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1372;refseq.name=NM_144679;refseq.name2=C17orf56;refseq.positionType=CDS;refseq.proteinCoordStr=p.P450P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=321;refseq.start=76817551;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap-filterIngatk GT 1/0 chr17 76820331 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=97.98;MQ0=0;OQ=1105.06;QD=11.51;RankSumP=0.206205;SB=-265.56;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.612C>T;refseq.codonCoord=204;refseq.end=76820331;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_144679;refseq.name2=C17orf56;refseq.positionType=CDS;refseq.proteinCoordStr=p.S204S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=86;refseq.start=76820331;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 76822063 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=1.72450e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.424T>C;refseq.codonCoord=142;refseq.end=76822063;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_144679;refseq.name2=C17orf56;refseq.positionType=CDS;refseq.proteinCoordStr=p.S142P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-31;refseq.start=76822063;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr17 76834819 . G C 81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.60;MQ0=0;OQ=160.26;QD=9.43;RankSumP=0.543444;SB=-94.79;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2492C>G;refseq.codonCoord=831;refseq.end=76834819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2867;refseq.name=NM_001037984;refseq.name2=SLC38A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A831G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=250;refseq.start=76834819;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr17 76839687 . C G 0.09 PASS AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=2;HaplotypeScore=5.99;MQ=97.74;MQ0=0;OQ=1004.08;QD=5.34;SB=-518.59;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.2266G>C;refseq.codonCoord_2=756;refseq.end_1=76839877;refseq.end_2=76839687;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2641;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A756P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=321;refseq.start_1=76835467;refseq.start_2=76839687;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=gatk GT:AD:DP:GL:GQ 0/1:155,33:186:-159.71,-56.02,-756.00:99 chr17 76839925 . C A 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=66.13;QD=3.15;RankSumP=0.371663;SB=-39.93;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.2028G>T;refseq.codingCoordStr_2=c.2028G>T;refseq.codonCoord_1=676;refseq.codonCoord_2=676;refseq.end_1=76839925;refseq.end_2=76839925;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2403;refseq.mrnaCoord_2=2403;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E676D;refseq.proteinCoordStr_2=p.E676D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-38;refseq.spliceDist_2=83;refseq.start_1=76839925;refseq.start_2=76839925;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=soap-filterIngatk GT 1/0 chr17 76840859 . T C 175.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=98.82;MQ0=0;OQ=5586.21;QD=18.62;RankSumP=0.105440;SB=-1847.67;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1676A>G;refseq.codingCoordStr_2=c.1676A>G;refseq.codonCoord_1=559;refseq.codonCoord_2=559;refseq.end_1=76840859;refseq.end_2=76840859;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2051;refseq.mrnaCoord_2=2051;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K559R;refseq.proteinCoordStr_2=p.K559R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=220;refseq.spliceDist_2=220;refseq.start_1=76840859;refseq.start_2=76840859;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr17 76841051 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1484A>C;refseq.codingCoordStr_2=c.1484A>C;refseq.codonCoord_1=495;refseq.codonCoord_2=495;refseq.end_1=76841051;refseq.end_2=76841051;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1859;refseq.mrnaCoord_2=1859;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H495P;refseq.proteinCoordStr_2=p.H495P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=76841051;refseq.start_2=76841051;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 76859397 . T C 80.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=2;HaplotypeScore=10.47;MQ=98.86;MQ0=0;OQ=5376.52;QD=36.57;RankSumP=1.00000;SB=-2088.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1047A>G;refseq.codingCoordStr_2=c.1047A>G;refseq.codonCoord_1=349;refseq.codonCoord_2=349;refseq.end_1=76859397;refseq.end_2=76859397;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1422;refseq.mrnaCoord_2=1422;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T349T;refseq.proteinCoordStr_2=p.T349T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=76859397;refseq.start_2=76859397;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr17 76864428 . A C 91 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=312;Dels=0.00;HRun=3;HaplotypeScore=28.60;MQ=97.89;MQ0=0;OQ=281.57;QD=0.90;RankSumP=3.94044e-09;SB=354.05;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.848T>G;refseq.codingCoordStr_2=c.848T>G;refseq.codonCoord_1=283;refseq.codonCoord_2=283;refseq.end_1=76864428;refseq.end_2=76864428;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1223;refseq.mrnaCoord_2=1223;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V283G;refseq.proteinCoordStr_2=p.V283G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=76864428;refseq.start_2=76864428;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr17 76869014 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.616G>C;refseq.codingCoordStr_2=c.616G>C;refseq.codonCoord_1=206;refseq.codonCoord_2=206;refseq.end_1=76869014;refseq.end_2=76869014;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=991;refseq.mrnaCoord_2=991;refseq.name2_1=SLC38A10;refseq.name2_2=SLC38A10;refseq.name_1=NM_001037984;refseq.name_2=NM_138570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A206P;refseq.proteinCoordStr_2=p.A206P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=76869014;refseq.start_2=76869014;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr17 77092614 . G A 324.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=97.67;MQ0=0;OQ=13415.42;QD=40.78;RankSumP=1.00000;SB=-4564.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.918C>T;refseq.codonCoord=306;refseq.end=77092614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_001614;refseq.name2=ACTG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y306Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-67;refseq.start=77092614;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr17 77124396 . C T 22.33 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=2.79;SB=-26.50;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.2165G>A;refseq.codonCoord_2=722;refseq.end_1=77124396;refseq.end_2=77124396;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2434;refseq.mrnaCoord_2=2238;refseq.name2_1=C17orf70;refseq.name2_2=C17orf70;refseq.name_1=NR_033338;refseq.name_2=NM_025161;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G722D;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=77124396;refseq.start_2=77124396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:6,2:8:-7.92,-2.41,-24.04:55.14 chr17 77124831 . C T 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=99.00;MQ0=0;OQ=206.86;QD=8.62;RankSumP=0.0107555;SB=-3.99;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1730G>A;refseq.codonCoord_2=577;refseq.end_1=77124831;refseq.end_2=77124831;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1999;refseq.mrnaCoord_2=1803;refseq.name2_1=C17orf70;refseq.name2_2=C17orf70;refseq.name_1=NR_033338;refseq.name_2=NM_025161;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R577Q;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=327;refseq.spliceDist_2=327;refseq.start_1=77124831;refseq.start_2=77124831;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr17 77242768 . C T 102.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=97.72;MQ0=0;OQ=1064.60;QD=15.43;RankSumP=0.380759;SB=-246.54;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.312G>A;refseq.codonCoord=104;refseq.end=77242768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=323;refseq.name=NM_001039842;refseq.name2=C17orf90;refseq.positionType=CDS;refseq.proteinCoordStr=p.A104A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=252;refseq.start=77242768;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr17 77247754 . T C 149.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=6.28;MQ=98.53;MQ0=0;OQ=5434.30;QD=35.29;RankSumP=1.00000;SB=-2209.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.363T>C;refseq.codonCoord=121;refseq.end=77247754;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_199287;refseq.name2=CCDC137;refseq.positionType=CDS;refseq.proteinCoordStr=p.S121S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=95;refseq.start=77247754;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr17 77247772 . C G 302.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=98.43;MQ0=0;OQ=2875.26;QD=20.99;RankSumP=0.221611;SB=-1145.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.381C>G;refseq.codonCoord=127;refseq.end=77247772;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=417;refseq.name=NM_199287;refseq.name2=CCDC137;refseq.positionType=CDS;refseq.proteinCoordStr=p.H127Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=113;refseq.start=77247772;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 77249955 . G A 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.06;MQ0=0;OQ=110.75;QD=9.23;RankSumP=0.468615;SB=-3.98;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.686G>A;refseq.codonCoord=229;refseq.end=77249955;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_199287;refseq.name2=CCDC137;refseq.positionType=CDS;refseq.proteinCoordStr=p.R229Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=26;refseq.start=77249955;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr17 77250113 . C T 16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=96.24;MQ0=0;OQ=71.57;QD=3.11;RankSumP=0.418729;SB=-38.53;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.844C>T;refseq.codonCoord=282;refseq.end=77250113;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=880;refseq.name=NM_199287;refseq.name2=CCDC137;refseq.positionType=CDS;refseq.proteinCoordStr=p.R282W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=184;refseq.start=77250113;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=filterInsoap-gatk GT 0/1 chr17 77272472 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=3;HaplotypeScore=2.26;MQ=98.84;MQ0=0;OQ=1117.07;QD=11.17;RankSumP=0.244253;SB=-118.84;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1089A>G;refseq.codonCoord=363;refseq.end=77272472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1166;refseq.name=NM_004712;refseq.name2=HGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.E363E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-31;refseq.start=77272472;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr17 77274285 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=97.79;MQ0=0;OQ=1249.97;QD=10.00;RankSumP=0.271003;SB=-585.44;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1734T>C;refseq.codonCoord=578;refseq.end=77274285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1811;refseq.name=NM_004712;refseq.name2=HGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G578G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=27;refseq.start=77274285;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr17 77274336 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=125;Dels=0.00;HRun=3;HaplotypeScore=4.13;MQ=97.05;MQ0=0;OQ=1394.70;QD=11.16;RankSumP=0.250804;SB=-579.81;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1785T>C;refseq.codonCoord=595;refseq.end=77274336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1862;refseq.name=NM_004712;refseq.name2=HGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P595P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=78;refseq.start=77274336;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr17 77278540 . G T 119.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=98.72;MQ0=0;OQ=2178.37;QD=14.05;RankSumP=0.383194;SB=-894.30;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2197G>T;refseq.codonCoord=733;refseq.end=77278540;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2274;refseq.name=NM_004712;refseq.name2=HGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A733S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-27;refseq.start=77278540;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr17 77278957 . C T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=92.14;MQ0=0;OQ=145.07;QD=11.16;RankSumP=0.258333;SB=-90.31;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.2238C>T;refseq.codonCoord=746;refseq.end=77278957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2315;refseq.name=NM_004712;refseq.name2=HGS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G746G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=15;refseq.start=77278957;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr17 77282119 . T C 126.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=461;Dels=0.00;HRun=1;HaplotypeScore=6.29;MQ=98.70;MQ0=0;OQ=8130.07;QD=17.64;RankSumP=0.336177;SB=-2811.77;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.313T>C;refseq.codonCoord=105;refseq.end=77282119;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_002949;refseq.name2=MRPL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S105P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-33;refseq.start=77282119;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr17 77292963 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=98.70;MQ0=0;OQ=1136.80;QD=11.60;RankSumP=0.119619;SB=-392.04;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=77292963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_012140;refseq.name2=SLC25A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R88R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=51;refseq.start=77292963;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr17 77465608 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.670A>C;refseq.codonCoord=224;refseq.end=77465608;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_016538;refseq.name2=SIRT7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T224P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=91;refseq.start=77465608;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 77547833 . T A 238.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.02;MQ0=0;OQ=2902.31;QD=31.55;RankSumP=1.00000;SB=-1061.88;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.755T>A;refseq.codonCoord=252;refseq.end=77547833;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_024083;refseq.name2=ASPSCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L252Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-179;refseq.start=77547833;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr17 77568020 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=98.05;MQ0=0;OQ=1469.28;QD=10.35;RankSumP=0.486875;SB=-533.64;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1461T>C;refseq.codonCoord=487;refseq.end=77568020;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_024083;refseq.name2=ASPSCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D487D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-15;refseq.start=77568020;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr17 77570504 . G A 93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.83;MQ0=0;OQ=170.60;QD=10.04;RankSumP=0.516699;SB=-88.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.131C>T;refseq.codonCoord=44;refseq.end=77570504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_144998;refseq.name2=STRA13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A44V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=43;refseq.start=77570504;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr17 77576668 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=166;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=98.84;MQ0=0;OQ=2830.24;QD=17.05;RankSumP=0.488871;SB=-1155.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.657C>T;refseq.codonCoord=219;refseq.end=77576668;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=897;refseq.name=NM_144999;refseq.name2=LRRC45;refseq.positionType=CDS;refseq.proteinCoordStr=p.A219A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=77576668;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr17 77579445 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=419.19;QD=20.96;RankSumP=0.165581;SB=-215.29;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1094C>T;refseq.codonCoord=365;refseq.end=77579445;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_144999;refseq.name2=LRRC45;refseq.positionType=CDS;refseq.proteinCoordStr=p.A365V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-32;refseq.start=77579445;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 77587889 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.44;MQ0=0;OQ=783.77;QD=13.28;RankSumP=0.169192;SB=-392.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.345G>A;refseq.codonCoord=115;refseq.end=77587889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_016286;refseq.name2=DCXR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S115S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=77587889;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr17 77600246 . A C 133.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1249.23;QD=19.52;RankSumP=0.487574;SB=-557.31;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.864T>G;refseq.codonCoord=288;refseq.end=77600246;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=872;refseq.name=NM_002917;refseq.name2=RFNG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H288Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=36;refseq.start=77600246;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr17 77601681 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.90;MQ0=0;OQ=721.26;QD=12.65;RankSumP=0.537028;SB=-238.61;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.459C>A;refseq.codonCoord=153;refseq.end=77601681;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=467;refseq.name=NM_002917;refseq.name2=RFNG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A153A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=40;refseq.start=77601681;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr17 77608261 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_1=c.1445A>C;refseq.codingCoordStr_2=c.1553A>C;refseq.codonCoord_1=482;refseq.codonCoord_2=518;refseq.end_1=77608261;refseq.end_2=77608261;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1490;refseq.mrnaCoord_2=1973;refseq.name2_1=GPS1;refseq.name2_2=GPS1;refseq.name_1=NM_004127;refseq.name_2=NM_212492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N482T;refseq.proteinCoordStr_2=p.N518T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=77608261;refseq.start_2=77608261;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr17 77632770 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.11;MQ0=0;OQ=567.58;QD=13.84;RankSumP=0.670592;SB=-196.71;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.6402C>T;refseq.codonCoord=2134;refseq.end=77632770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6519;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2134I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=77632770;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr17 77634755 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.63;MQ0=0;OQ=391.28;QD=15.05;RankSumP=0.629649;SB=-206.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.5268C>T;refseq.codonCoord=1756;refseq.end=77634755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5385;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1756S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=50;refseq.start=77634755;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr17 77637028 . A G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=95.74;MQ0=0;OQ=85.62;QD=7.14;RankSumP=0.595238;SB=-34.63;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.3741T>C;refseq.codonCoord=1247;refseq.end=77637028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3858;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1247A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=77637028;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr17 77639393 . G T 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.0370468;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.2673C>A;refseq.codonCoord=891;refseq.end=77639393;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2790;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y891*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=80;refseq.start=77639393;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap GT 0/1 chr17 77640841 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=0.602282;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1921G>C;refseq.codonCoord=641;refseq.end=77640841;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2038;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A641P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-45;refseq.start=77640841;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr17 77644472 . A G 157.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=812.00;QD=15.04;RankSumP=0.606172;SB=-406.21;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.567T>C;refseq.codonCoord=189;refseq.end=77644472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_004104;refseq.name2=FASN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N189N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-89;refseq.start=77644472;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr17 77788871 . T C 172.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=8.49;MQ=96.95;MQ0=0;OQ=4757.38;QD=33.98;RankSumP=1.00000;SB=-969.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.936T>C;refseq.codingCoordStr_2=c.936T>C;refseq.codingCoordStr_3=c.936T>C;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.codonCoord_3=312;refseq.end_1=77788871;refseq.end_2=77788871;refseq.end_3=77788871;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1075;refseq.mrnaCoord_2=1054;refseq.mrnaCoord_3=1056;refseq.name2_1=SLC16A3;refseq.name2_2=SLC16A3;refseq.name2_3=SLC16A3;refseq.name_1=NM_001042422;refseq.name_2=NM_001042423;refseq.name_3=NM_004207;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G312G;refseq.proteinCoordStr_2=p.G312G;refseq.proteinCoordStr_3=p.G312G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-188;refseq.spliceDist_2=-188;refseq.spliceDist_3=-188;refseq.start_1=77788871;refseq.start_2=77788871;refseq.start_3=77788871;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr17 77866529 . T G 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=2.22722e-05;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.680A>C;refseq.codonCoord=227;refseq.end=77866529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_006137;refseq.name2=CD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.H227P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=68;refseq.start=77866529;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr17 77943620 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.20;MQ0=0;OQ=1109.29;QD=11.09;RankSumP=0.341401;SB=-328.39;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.903C>T;refseq.codingCoordStr_3=c.*120C>T;refseq.codonCoord_2=301;refseq.end_1=77943620;refseq.end_2=77943620;refseq.end_3=77943620;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1055;refseq.mrnaCoord_3=1268;refseq.name2_1=C17orf101;refseq.name2_2=C17orf101;refseq.name2_3=C17orf101;refseq.name_1=NR_033265;refseq.name_2=NM_024648;refseq.name_3=NM_175902;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.proteinCoordStr_2=p.I301I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=77943620;refseq.start_2=77943620;refseq.start_3=77943620;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr17 77949476 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=97.65;MQ0=0;OQ=901.85;QD=14.55;RankSumP=0.0259583;SB=-261.51;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_2=c.708C>T;refseq.codingCoordStr_3=c.708C>T;refseq.codonCoord_2=236;refseq.codonCoord_3=236;refseq.end_1=77949476;refseq.end_2=77949476;refseq.end_3=77949476;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=852;refseq.mrnaCoord_2=860;refseq.mrnaCoord_3=860;refseq.name2_1=C17orf101;refseq.name2_2=C17orf101;refseq.name2_3=C17orf101;refseq.name_1=NR_033265;refseq.name_2=NM_024648;refseq.name_3=NM_175902;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.Y236Y;refseq.proteinCoordStr_3=p.Y236Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.start_1=77949476;refseq.start_2=77949476;refseq.start_3=77949476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr17 77984973 . A G 122.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=1002.60;QD=14.32;RankSumP=0.174145;SB=-102.82;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.433A>G;refseq.codonCoord=145;refseq.end=77984973;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=849;refseq.name=NM_173620;refseq.name2=HEXDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.I145V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-15;refseq.start=77984973;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr17 77992981 . T G 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=14;DP=196;Dels=0.00;HRun=2;HaplotypeScore=46.86;MQ=96.61;MQ0=0;OQ=248.70;QD=1.27;RankSumP=0.00258740;SB=65.17;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.1269T>G;refseq.codonCoord=423;refseq.end=77992981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1685;refseq.name=NM_173620;refseq.name2=HEXDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G423G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=17;refseq.start=77992981;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr17 77993431 . A G 68 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00946131;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.1432A>G;refseq.codonCoord=478;refseq.end=77993431;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1848;refseq.name=NM_173620;refseq.name2=HEXDC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R478G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=90;refseq.start=77993431;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 77995235 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=10.80;MQ=97.87;MQ0=0;OQ=1041.96;QD=11.58;RankSumP=0.0674434;SB=-313.21;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.codingCoordStr_1=c.498T>C;refseq.codingCoordStr_2=c.498T>C;refseq.codingCoordStr_3=c.456T>C;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.codonCoord_3=152;refseq.end_1=77995235;refseq.end_2=77995235;refseq.end_3=77995235;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=705;refseq.mrnaCoord_3=613;refseq.name2_1=C17orf62;refseq.name2_2=C17orf62;refseq.name2_3=C17orf62;refseq.name_1=NM_001033046;refseq.name_2=NM_001100407;refseq.name_3=NM_001100408;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L166L;refseq.proteinCoordStr_2=p.L166L;refseq.proteinCoordStr_3=p.L152L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.start_1=77995235;refseq.start_2=77995235;refseq.start_3=77995235;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 0/1 chr17 78039231 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.chr_3=chr17;refseq.chr_4=chr17;refseq.codingCoordStr_1=c.1103A>G;refseq.codingCoordStr_2=c.1136A>G;refseq.codingCoordStr_3=c.1280A>G;refseq.codingCoordStr_4=c.1418A>G;refseq.codonCoord_1=368;refseq.codonCoord_2=379;refseq.codonCoord_3=427;refseq.codonCoord_4=473;refseq.end_1=78039231;refseq.end_2=78039231;refseq.end_3=78039231;refseq.end_4=78039231;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1578;refseq.mrnaCoord_2=1276;refseq.mrnaCoord_3=1420;refseq.mrnaCoord_4=1558;refseq.name2_1=NARF;refseq.name2_2=NARF;refseq.name2_3=NARF;refseq.name2_4=NARF;refseq.name_1=NM_001038618;refseq.name_2=NM_001083608;refseq.name_3=NM_012336;refseq.name_4=NM_031968;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E368G;refseq.proteinCoordStr_2=p.E379G;refseq.proteinCoordStr_3=p.E427G;refseq.proteinCoordStr_4=p.E473G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.spliceDist_3=151;refseq.spliceDist_4=151;refseq.start_1=78039231;refseq.start_2=78039231;refseq.start_3=78039231;refseq.start_4=78039231;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr17 78209077 . G C 113.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=19.29;MQ=98.62;MQ0=0;OQ=5025.64;QD=18.82;RankSumP=0.0422966;SB=-1951.58;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.788C>G;refseq.codonCoord=263;refseq.end=78209077;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_006822;refseq.name2=RAB40B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P263R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=223;refseq.start=78209077;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr17 78267932 . C G 310.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.90;MQ0=0;OQ=1127.47;QD=36.37;RankSumP=1.00000;SB=-182.86;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.12C>G;refseq.codonCoord=4;refseq.end=78267932;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=62;refseq.name=NM_024619;refseq.name2=FN3KRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=62;refseq.start=78267932;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr17 78277661 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.485A>G;refseq.codonCoord=162;refseq.end=78277661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_024619;refseq.name2=FN3KRP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E162G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=17;refseq.start=78277661;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr17 78289699 . A C 92.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=98.64;MQ0=0;OQ=3067.16;QD=33.34;RankSumP=1.00000;SB=-1063.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.187A>C;refseq.codonCoord=63;refseq.end=78289699;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_022158;refseq.name2=FN3K;refseq.positionType=CDS;refseq.proteinCoordStr=p.R63R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=46;refseq.start=78289699;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr17 78381754 . T C 126.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=5.44;MQ=98.28;MQ0=0;OQ=2929.54;QD=35.30;RankSumP=1.00000;SB=-965.27;SecondBestBaseQ=18;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1725A>G;refseq.codonCoord_2=575;refseq.end_1=78421378;refseq.end_2=78381754;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2036;refseq.name2_1=TBCD;refseq.name2_2=ZNF750;refseq.name_1=NM_005993;refseq.name_2=NM_024702;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A575A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=289;refseq.start_1=78366110;refseq.start_2=78381754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr17 78381781 . A G 116.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=2;HaplotypeScore=3.81;MQ=98.36;MQ0=0;OQ=3758.78;QD=36.49;RankSumP=1.00000;SB=-1826.73;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr17;refseq.chr_2=chr17;refseq.codingCoordStr_2=c.1698T>C;refseq.codonCoord_2=566;refseq.end_1=78421378;refseq.end_2=78381781;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2009;refseq.name2_1=TBCD;refseq.name2_2=ZNF750;refseq.name_1=NM_005993;refseq.name_2=NM_024702;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P566P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=262;refseq.start_1=78366110;refseq.start_2=78381781;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr17 78516825 . C T 249.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=97.63;MQ0=0;OQ=1521.64;QD=38.04;RankSumP=1.00000;SB=-369.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.591G>A;refseq.codonCoord=197;refseq.end=78516825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_001009905;refseq.name2=B3GNTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E197E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=78516825;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr17 78586221 . A C 383.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.67;MQ0=0;OQ=2584.37;QD=37.45;RankSumP=1.00000;SB=-1076.14;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.321T>G;refseq.codonCoord=107;refseq.end=78586221;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_001009905;refseq.name2=B3GNTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S107S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-22;refseq.start=78586221;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr17 78599918 . C T 274.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=98.70;MQ0=0;OQ=13061.87;QD=42.14;RankSumP=1.00000;SB=-6050.72;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.93G>A;refseq.codonCoord=31;refseq.end=78599918;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_001009905;refseq.name2=B3GNTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P31P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=33;refseq.start=78599918;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr17 78636328 . A G 76.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=97.95;MQ0=0;OQ=1080.37;QD=33.76;RankSumP=1.00000;SB=-526.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr17;refseq.codingCoordStr=c.396A>G;refseq.codonCoord=132;refseq.end=78636328;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_001004431;refseq.name2=METRNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P132P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-161;refseq.start=78636328;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr17 78636464 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.65;MQ0=0;OQ=497.89;QD=11.85;RankSumP=0.634357;SB=-252.42;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr17;refseq.codingCoordStr=c.532G>T;refseq.codonCoord=178;refseq.end=78636464;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_001004431;refseq.name2=METRNL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A178S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-25;refseq.start=78636464;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr18 321689 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2042A>G;refseq.codonCoord=681;refseq.end=321689;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2257;refseq.name=NM_130386;refseq.name2=COLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D681G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-22;refseq.start=321689;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr18 324742 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=8.11;MQ=98.67;MQ0=0;OQ=1334.79;QD=11.22;RankSumP=0.483667;SB=-635.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1816G>A;refseq.codonCoord=606;refseq.end=324742;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2031;refseq.name=NM_130386;refseq.name2=COLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G606S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=324742;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr18 324758 . T C 159.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.74;MQ0=0;OQ=3578.67;QD=33.45;RankSumP=1.00000;SB=-1415.91;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1800A>G;refseq.codonCoord=600;refseq.end=324758;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2015;refseq.name=NM_130386;refseq.name2=COLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P600P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-17;refseq.start=324758;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr18 324994 . A G 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=72.84;QD=4.55;RankSumP=0.260440;SB=-6.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1564T>C;refseq.codonCoord=522;refseq.end=324994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1779;refseq.name=NM_130386;refseq.name2=COLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S522P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=237;refseq.start=324994;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr18 336821 . C T 231.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=98.94;MQ0=0;OQ=1929.76;QD=16.08;RankSumP=0.228328;SB=-602.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.801G>A;refseq.codonCoord=267;refseq.end=336821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_130386;refseq.name2=COLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T267T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=521;refseq.start=336821;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr18 681266 . A G 137.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=98.06;MQ0=0;OQ=935.49;QD=14.62;RankSumP=0.526231;SB=-139.77;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.188T>C;refseq.codingCoordStr_2=c.434T>C;refseq.codingCoordStr_3=c.497T>C;refseq.codonCoord_1=63;refseq.codonCoord_2=145;refseq.codonCoord_3=166;refseq.end_1=681266;refseq.end_2=681266;refseq.end_3=681266;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=509;refseq.mrnaCoord_3=508;refseq.name2_1=ENOSF1;refseq.name2_2=ENOSF1;refseq.name2_3=ENOSF1;refseq.name_1=NM_001126123;refseq.name_2=NM_017512;refseq.name_3=NM_202758;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M63T;refseq.proteinCoordStr_2=p.M145T;refseq.proteinCoordStr_3=p.M166T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=681266;refseq.start_2=681266;refseq.start_3=681266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chr18 702568 rs3786349 G A 11.18 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.18;SB=-10.00;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.-111C>T;refseq.codingCoordStr_2=c.20C>T;refseq.codonCoord_2=7;refseq.end_1=702568;refseq.end_2=702568;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=95;refseq.mrnaCoord_2=95;refseq.name2_1=ENOSF1;refseq.name2_2=ENOSF1;refseq.name_1=NM_001126123;refseq.name_2=NM_017512;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S7F;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=702568;refseq.start_2=702568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.37,-0.30,-0.00:1.76 chr18 714612 . A G 274.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=440;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=95.86;MQ0=1;OQ=17792.22;QD=40.44;RankSumP=1.00000;SB=-6503.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1444T>C;refseq.codonCoord=482;refseq.end=714612;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1665;refseq.name=NM_005433;refseq.name2=YES1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L482L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=21;refseq.start=714612;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr18 897675 . G A 167.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=97.36;MQ0=0;OQ=1174.56;QD=33.56;RankSumP=1.00000;SB=-308.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.126G>A;refseq.codingCoordStr_2=c.126G>A;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=897675;refseq.end_2=897675;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=245;refseq.mrnaCoord_2=217;refseq.name2_1=ADCYAP1;refseq.name2_2=ADCYAP1;refseq.name_1=NM_001099733;refseq.name_2=NM_001117;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A42A;refseq.proteinCoordStr_2=p.A42A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=897675;refseq.start_2=897675;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr18 2529016 . C G 188.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.71;MQ0=0;OQ=7452.32;QD=49.03;RankSumP=1.00000;SB=-3328.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1402G>C;refseq.codonCoord=468;refseq.end=2529016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2182;refseq.name=NM_022840;refseq.name2=METTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V468L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=129;refseq.start=2529016;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr18 2537500 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.53;MQ0=0;OQ=1921.10;QD=11.86;RankSumP=0.260679;SB=-565.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.928C>A;refseq.codonCoord=310;refseq.end=2537500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_022840;refseq.name2=METTL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q310K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=29;refseq.start=2537500;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr18 2606457 . G C 166.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=98.98;MQ0=0;OQ=2554.48;QD=17.86;RankSumP=0.458487;SB=-799.13;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1813G>C;refseq.codonCoord=605;refseq.end=2606457;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1995;refseq.name=NM_006101;refseq.name2=NDC80;refseq.positionType=CDS;refseq.proteinCoordStr=p.A605P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=22;refseq.start=2606457;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr18 2837287 . C A 18.50 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.27;MQ0=0;QD=2.31;SB=-30.35;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.101C>A;refseq.codonCoord=34;refseq.end=2837287;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_032048;refseq.name2=EMILIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P34H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-34;refseq.start=2837287;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:6,2:6:-6.93,-1.81,-15.37:51.27 chr18 2875118 . C T 320.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=98.76;MQ0=0;OQ=4480.25;QD=16.78;RankSumP=0.0964711;SB=-1204.27;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.414C>T;refseq.codonCoord=138;refseq.end=2875118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_032048;refseq.name2=EMILIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N138N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-20;refseq.start=2875118;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr18 2899700 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=8.67;MQ=98.90;MQ0=0;OQ=2628.00;QD=11.68;RankSumP=0.326721;SB=-1262.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2707C>T;refseq.codonCoord=903;refseq.end=2899700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2866;refseq.name=NM_032048;refseq.name2=EMILIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P903S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=12;refseq.start=2899700;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr18 3442223 . T C 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=7;RankSumP=0.698052;SecondBestBaseQ=31;refseq.changesAA_7=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.chr_6=chr18;refseq.chr_7=chr18;refseq.codingCoordStr_7=c.246T>C;refseq.codonCoord_7=82;refseq.end_1=3446341;refseq.end_2=3446341;refseq.end_3=3446341;refseq.end_4=3446341;refseq.end_5=3446341;refseq.end_6=3446341;refseq.end_7=3442223;refseq.frame_7=2;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=*;refseq.haplotypeReference_6=*;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.mrnaCoord_7=633;refseq.name2_1=TGIF1;refseq.name2_2=TGIF1;refseq.name2_3=TGIF1;refseq.name2_4=TGIF1;refseq.name2_5=TGIF1;refseq.name2_6=TGIF1;refseq.name2_7=TGIF1;refseq.name_1=NM_174886;refseq.name_2=NM_173207;refseq.name_3=NM_173209;refseq.name_4=NM_003244;refseq.name_5=NM_173208;refseq.name_6=NM_173210;refseq.name_7=NM_170695;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.proteinCoordStr_7=p.P82P;refseq.referenceAA_7=Pro;refseq.referenceCodon_7=CCT;refseq.spliceDist_7=-158;refseq.start_1=3408224;refseq.start_2=3437806;refseq.start_3=3440079;refseq.start_4=3440514;refseq.start_5=3440514;refseq.start_6=3441784;refseq.start_7=3442223;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_7=Pro;refseq.variantCodon_7=CCC;set=soap GT 1/0 chr18 3447606 . C T 117.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=93.87;MQ0=0;OQ=2326.79;QD=13.77;RankSumP=0.262468;SB=-907.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.chr_6=chr18;refseq.chr_7=chr18;refseq.chr_8=chr18;refseq.codingCoordStr_1=c.487C>T;refseq.codingCoordStr_2=c.874C>T;refseq.codingCoordStr_3=c.529C>T;refseq.codingCoordStr_4=c.487C>T;refseq.codingCoordStr_5=c.427C>T;refseq.codingCoordStr_6=c.427C>T;refseq.codingCoordStr_7=c.427C>T;refseq.codingCoordStr_8=c.427C>T;refseq.codonCoord_1=163;refseq.codonCoord_2=292;refseq.codonCoord_3=177;refseq.codonCoord_4=163;refseq.codonCoord_5=143;refseq.codonCoord_6=143;refseq.codonCoord_7=143;refseq.codonCoord_8=143;refseq.end_1=3447606;refseq.end_2=3447606;refseq.end_3=3447606;refseq.end_4=3447606;refseq.end_5=3447606;refseq.end_6=3447606;refseq.end_7=3447606;refseq.end_8=3447606;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=1261;refseq.mrnaCoord_3=659;refseq.mrnaCoord_4=693;refseq.mrnaCoord_5=567;refseq.mrnaCoord_6=654;refseq.mrnaCoord_7=554;refseq.mrnaCoord_8=725;refseq.name2_1=TGIF1;refseq.name2_2=TGIF1;refseq.name2_3=TGIF1;refseq.name2_4=TGIF1;refseq.name2_5=TGIF1;refseq.name2_6=TGIF1;refseq.name2_7=TGIF1;refseq.name2_8=TGIF1;refseq.name_1=NM_003244;refseq.name_2=NM_170695;refseq.name_3=NM_173207;refseq.name_4=NM_173208;refseq.name_5=NM_173209;refseq.name_6=NM_173210;refseq.name_7=NM_173211;refseq.name_8=NM_174886;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.P163S;refseq.proteinCoordStr_2=p.P292S;refseq.proteinCoordStr_3=p.P177S;refseq.proteinCoordStr_4=p.P163S;refseq.proteinCoordStr_5=p.P143S;refseq.proteinCoordStr_6=p.P143S;refseq.proteinCoordStr_7=p.P143S;refseq.proteinCoordStr_8=p.P143S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.referenceCodon_6=CCG;refseq.referenceCodon_7=CCG;refseq.referenceCodon_8=CCG;refseq.spliceDist_1=244;refseq.spliceDist_2=244;refseq.spliceDist_3=244;refseq.spliceDist_4=244;refseq.spliceDist_5=244;refseq.spliceDist_6=244;refseq.spliceDist_7=244;refseq.spliceDist_8=244;refseq.start_1=3447606;refseq.start_2=3447606;refseq.start_3=3447606;refseq.start_4=3447606;refseq.start_5=3447606;refseq.start_6=3447606;refseq.start_7=3447606;refseq.start_8=3447606;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;refseq.variantCodon_6=TCG;refseq.variantCodon_7=TCG;refseq.variantCodon_8=TCG;set=Intersection GT 0/1 chr18 3869278 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=1.10092e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.791A>C;refseq.codonCoord=264;refseq.end=3869278;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_004746;refseq.name2=DLGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N264T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-167;refseq.start=3869278;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 5282030 . A G 260.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.76;MQ0=0;OQ=14702.09;QD=42.74;RankSumP=1.00000;SB=-4304.07;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_2=c.177T>C;refseq.codingCoordStr_3=c.177T>C;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=5282030;refseq.end_2=5282030;refseq.end_3=5282030;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=338;refseq.mrnaCoord_2=516;refseq.mrnaCoord_3=486;refseq.name2_1=ZFP161;refseq.name2_2=ZFP161;refseq.name2_3=ZFP161;refseq.name_1=NR_026569;refseq.name_2=NM_001143823;refseq.name_3=NM_003409;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T59T;refseq.proteinCoordStr_3=p.T59T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=174;refseq.spliceDist_2=174;refseq.spliceDist_3=174;refseq.start_1=5282030;refseq.start_2=5282030;refseq.start_3=5282030;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr18 5400574 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=11.03;MQ=97.57;MQ0=0;OQ=382.97;QD=4.40;RankSumP=0.399758;SB=-139.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2112T>C;refseq.codonCoord=704;refseq.end=5400574;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2198;refseq.name=NM_012307;refseq.name2=EPB41L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T704T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=5400574;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr18 5406160 . T C 311.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=9.56;MQ=98.84;MQ0=0;OQ=4554.98;QD=18.90;RankSumP=0.177625;SB=-1062.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1724A>G;refseq.codonCoord=575;refseq.end=5406160;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1810;refseq.name=NM_012307;refseq.name2=EPB41L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y575C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=218;refseq.start=5406160;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr18 6879973 . A G 266.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=467;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.84;MQ0=0;OQ=8006.96;QD=17.15;RankSumP=0.309840;SB=-2754.52;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1146A>G;refseq.codingCoordStr_2=c.1146A>G;refseq.codonCoord_1=382;refseq.codonCoord_2=382;refseq.end_1=6879973;refseq.end_2=6879973;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1353;refseq.name2_1=ARHGAP28;refseq.name2_2=ARHGAP28;refseq.name_1=NM_001010000;refseq.name_2=NM_030672;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P382P;refseq.proteinCoordStr_2=p.P382P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=6879973;refseq.start_2=6879973;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr18 6880434 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.76;MQ0=0;OQ=1690.98;QD=11.50;RankSumP=0.388093;SB=-138.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1263A>G;refseq.codingCoordStr_2=c.1263A>G;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.end_1=6880434;refseq.end_2=6880434;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1470;refseq.mrnaCoord_2=1470;refseq.name2_1=ARHGAP28;refseq.name2_2=ARHGAP28;refseq.name_1=NM_001010000;refseq.name_2=NM_030672;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P421P;refseq.proteinCoordStr_2=p.P421P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=6880434;refseq.start_2=6880434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr18 6902143 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1313.02;QD=18.24;RankSumP=0.130022;SB=-502.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1703A>C;refseq.codonCoord=568;refseq.end=6902143;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1910;refseq.name=NM_001010000;refseq.name2=ARHGAP28;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q568P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=85;refseq.start=6902143;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr18 6951676 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.7535T>G;refseq.codonCoord=2512;refseq.end=6951676;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7629;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2512G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=83;refseq.start=6951676;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr18 6970523 . T C 348.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=7852.86;QD=42.68;RankSumP=1.00000;SB=-3758.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.6004A>G;refseq.codonCoord=2002;refseq.end=6970523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6098;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2002E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=6970523;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr18 6975270 . C T 217.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=552;Dels=0.00;HRun=0;HaplotypeScore=14.16;MQ=98.93;MQ0=0;OQ=11833.23;QD=21.44;RankSumP=0.000831253;SB=-3970.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.5626G>A;refseq.codonCoord=1876;refseq.end=6975270;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5720;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1876T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-35;refseq.start=6975270;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=filterInsoap-gatk GT 0/1 chr18 6975631 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.90;MQ0=0;OQ=1207.59;QD=11.39;RankSumP=0.239878;SB=-260.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5391G>A;refseq.codonCoord=1797;refseq.end=6975631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5485;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1797L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=12;refseq.start=6975631;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr18 6976259 . G A 148.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=17.61;MQ=98.71;MQ0=0;OQ=6893.44;QD=17.81;RankSumP=0.366609;SB=-1971.47;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5256C>T;refseq.codonCoord=1752;refseq.end=6976259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5350;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1752H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=88;refseq.start=6976259;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr18 6983673 . T C 221.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=424;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=98.75;MQ0=0;OQ=6992.91;QD=16.49;RankSumP=0.475867;SB=-1956.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.4975A>G;refseq.codonCoord=1659;refseq.end=6983673;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5069;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1659V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-34;refseq.start=6983673;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr18 6989628 . T C 368.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2434.29;QD=37.45;RankSumP=1.00000;SB=-805.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4479A>G;refseq.codonCoord=1493;refseq.end=6989628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4573;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1493S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=6989628;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr18 6989963 . G A 261.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.68;MQ0=0;OQ=2166.81;QD=16.80;RankSumP=0.404668;SB=-891.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4416C>T;refseq.codonCoord=1472;refseq.end=6989963;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4510;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1472H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=34;refseq.start=6989963;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr18 7001338 . C T 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=94.10;MQ0=0;QD=0.50;RankSumP=0.0461122;SB=-28.53;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3648G>A;refseq.codonCoord=1216;refseq.end=7001338;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3742;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1216P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-40;refseq.start=7001338;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap-filterIngatk GT 0/1 chr18 7001413 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.90;MQ0=0;OQ=622.23;QD=10.92;RankSumP=0.0616870;SB=-231.64;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3573C>T;refseq.codonCoord=1191;refseq.end=7001413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3667;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1191T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=66;refseq.start=7001413;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr18 7002123 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1389.80;QD=13.24;RankSumP=0.256802;SB=-531.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3378T>C;refseq.codonCoord=1126;refseq.end=7002123;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3472;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1126G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=7002123;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr18 7007322 . A G 269.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.95;MQ0=0;OQ=4993.14;QD=15.60;RankSumP=0.399371;SB=-1851.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2763T>C;refseq.codonCoord=921;refseq.end=7007322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2857;refseq.name=NM_005559;refseq.name2=LAMA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C921C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-46;refseq.start=7007322;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr18 7221865 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=218;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.44;MQ0=0;OQ=2416.66;QD=11.09;RankSumP=0.0342679;SB=-1163.39;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.729C>T;refseq.codonCoord=243;refseq.end=7221865;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_001105581;refseq.name2=LRRC30;refseq.positionType=CDS;refseq.proteinCoordStr=p.D243D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-178;refseq.start=7221865;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr18 8059868 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1919.52;QD=13.42;RankSumP=0.423039;SB=-494.45;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1317C>T;refseq.codingCoordStr_2=c.1317C>T;refseq.codonCoord_1=439;refseq.codonCoord_2=439;refseq.end_1=8059868;refseq.end_2=8059868;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1820;refseq.mrnaCoord_2=1820;refseq.name2_1=PTPRM;refseq.name2_2=PTPRM;refseq.name_1=NM_001105244;refseq.name_2=NM_002845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N439N;refseq.proteinCoordStr_2=p.N439N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-125;refseq.spliceDist_2=-125;refseq.start_1=8059868;refseq.start_2=8059868;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr18 8377195 . G A 324.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.16;MQ0=0;OQ=9128.80;QD=41.31;RankSumP=1.00000;SB=-2028.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.4170G>A;refseq.codingCoordStr_2=c.4131G>A;refseq.codonCoord_1=1390;refseq.codonCoord_2=1377;refseq.end_1=8377195;refseq.end_2=8377195;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4673;refseq.mrnaCoord_2=4634;refseq.name2_1=PTPRM;refseq.name2_2=PTPRM;refseq.name_1=NM_001105244;refseq.name_2=NM_002845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1390E;refseq.proteinCoordStr_2=p.E1377E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=8377195;refseq.start_2=8377195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr18 8377219 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.05;MQ0=0;OQ=5240.31;QD=36.65;RankSumP=1.00000;SB=-90.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.4194G>C;refseq.codingCoordStr_2=c.4155G>C;refseq.codonCoord_1=1398;refseq.codonCoord_2=1385;refseq.end_1=8377219;refseq.end_2=8377219;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4697;refseq.mrnaCoord_2=4658;refseq.name2_1=PTPRM;refseq.name2_2=PTPRM;refseq.name_1=NM_001105244;refseq.name_2=NM_002845;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1398T;refseq.proteinCoordStr_2=p.T1385T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=8377219;refseq.start_2=8377219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr18 8773835 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=9.13;MQ=96.93;MQ0=0;OQ=473.54;QD=10.76;RankSumP=0.569795;SB=-80.76;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.725T>C;refseq.codonCoord=242;refseq.end=8773835;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.M242T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=308;refseq.start=8773835;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr18 8774370 . A G 139.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=96.07;MQ0=0;OQ=1635.79;QD=29.74;RankSumP=1.00000;SB=-500.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1260A>G;refseq.codonCoord=420;refseq.end=8774370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1402;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.E420E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-472;refseq.start=8774370;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr18 8774612 . A G 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=97.87;MQ0=0;OQ=113.26;QD=7.55;RankSumP=0.735820;SB=-71.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1502A>G;refseq.codonCoord=501;refseq.end=8774612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q501R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-230;refseq.start=8774612;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap-filterIngatk GT 0/1 chr18 8775964 . C G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=1.27676e-05;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1762C>G;refseq.codonCoord=588;refseq.end=8775964;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1904;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.L588V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=31;refseq.start=8775964;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr18 8788185 . G A 202.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.24;MQ0=0;OQ=4063.91;QD=22.09;RankSumP=0.0409665;SB=-1546.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2332G>A;refseq.codonCoord=778;refseq.end=8788185;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2474;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.G778S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=91;refseq.start=8788185;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr18 8809246 . C T 141.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.26;MQ0=0;OQ=2707.82;QD=14.25;RankSumP=0.431435;SB=-1004.94;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3145C>T;refseq.codonCoord=1049;refseq.end=8809246;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3287;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1049C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-12;refseq.start=8809246;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr18 8815192 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=2.48;MQ=99.00;MQ0=0;OQ=945.24;QD=15.25;RankSumP=0.381352;SB=-102.77;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3684A>G;refseq.codonCoord=1228;refseq.end=8815192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3826;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1228G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=496;refseq.start=8815192;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr18 8815399 . C T 222.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=98.97;MQ0=0;OQ=2683.82;QD=14.13;RankSumP=0.0375129;SB=-1315.20;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3891C>T;refseq.codonCoord=1297;refseq.end=8815399;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4033;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1297S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=703;refseq.start=8815399;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr18 8816083 . G C 238.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1136.40;QD=42.09;RankSumP=1.00000;SB=-580.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4575G>C;refseq.codonCoord=1525;refseq.end=8816083;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4717;refseq.name=NM_015210;refseq.name2=KIAA0802;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1525T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-148;refseq.start=8816083;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr18 9107867 . T C 278.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=99.00;MQ0=0;OQ=4025.82;QD=21.30;RankSumP=0.422334;SB=-1562.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.86T>C;refseq.codonCoord=29;refseq.end=9107867;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_021074;refseq.name2=NDUFV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V29A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=32;refseq.start=9107867;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr18 9112591 . T C 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=280;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=81.22;MQ0=3;OQ=296.24;QD=1.06;RankSumP=0.443919;SB=-124.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.381T>C;refseq.codonCoord=127;refseq.end=9112591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_021074;refseq.name2=NDUFV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V127V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=81;refseq.start=9112591;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap-filterIngatk GT 1/0 chr18 9112611 . T C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=263;Dels=0.00;HRun=1;HaplotypeScore=5.58;MQ=80.25;MQ0=6;QD=0.18;RankSumP=0.400060;SB=94.52;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.401T>C;refseq.codonCoord=134;refseq.end=9112611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_021074;refseq.name2=NDUFV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-69;refseq.start=9112611;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr18 9112638 . G C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.403085;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.428G>C;refseq.codonCoord=143;refseq.end=9112638;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_021074;refseq.name2=NDUFV2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R143P;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-42;refseq.start=9112638;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr18 9245982 . A G 125.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1106.65;QD=18.14;RankSumP=0.480403;SB=-557.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2648A>G;refseq.codingCoordStr_2=c.2717A>G;refseq.codonCoord_1=883;refseq.codonCoord_2=906;refseq.end_1=9245982;refseq.end_2=9245982;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2905;refseq.mrnaCoord_2=2974;refseq.name2_1=ANKRD12;refseq.name2_2=ANKRD12;refseq.name_1=NM_001083625;refseq.name_2=NM_015208;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K883R;refseq.proteinCoordStr_2=p.K906R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=1774;refseq.spliceDist_2=1774;refseq.start_1=9245982;refseq.start_2=9245982;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr18 9246258 . T C 170.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=98.82;MQ0=0;OQ=4130.86;QD=21.86;RankSumP=0.454816;SB=-1521.87;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2924T>C;refseq.codingCoordStr_2=c.2993T>C;refseq.codonCoord_1=975;refseq.codonCoord_2=998;refseq.end_1=9246258;refseq.end_2=9246258;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3181;refseq.mrnaCoord_2=3250;refseq.name2_1=ANKRD12;refseq.name2_2=ANKRD12;refseq.name_1=NM_001083625;refseq.name_2=NM_015208;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L975S;refseq.proteinCoordStr_2=p.L998S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=2050;refseq.spliceDist_2=2050;refseq.start_1=9246258;refseq.start_2=9246258;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr18 9386476 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.422A>C;refseq.codonCoord=141;refseq.end=9386476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_020648;refseq.name2=TWSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N141T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-69;refseq.start=9386476;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr18 9537845 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2795A>C;refseq.codingCoordStr_2=c.2744A>C;refseq.codonCoord_1=932;refseq.codonCoord_2=915;refseq.end_1=9537845;refseq.end_2=9537845;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2913;refseq.mrnaCoord_2=2862;refseq.name2_1=PPP4R1;refseq.name2_2=PPP4R1;refseq.name_1=NM_001042388;refseq.name_2=NM_005134;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H932P;refseq.proteinCoordStr_2=p.H915P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=9537845;refseq.start_2=9537845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr18 9876890 . A G 272.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=71.70;MQ0=36;OQ=4555.60;QD=17.94;RankSumP=4.04651e-08;SB=-1680.84;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.414A>G;refseq.codingCoordStr_2=c.213A>G;refseq.codingCoordStr_3=c.213A>G;refseq.codonCoord_1=138;refseq.codonCoord_2=71;refseq.codonCoord_3=71;refseq.end_1=9876890;refseq.end_2=9876890;refseq.end_3=9876890;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=394;refseq.mrnaCoord_3=660;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S138S;refseq.proteinCoordStr_2=p.S71S;refseq.proteinCoordStr_3=p.S71S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=305;refseq.spliceDist_2=305;refseq.spliceDist_3=305;refseq.start_1=9876890;refseq.start_2=9876890;refseq.start_3=9876890;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=filterInsoap-gatk GT 0/1 chr18 9877371 . C A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.215570;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.895C>A;refseq.codingCoordStr_2=c.694C>A;refseq.codingCoordStr_3=c.694C>A;refseq.codonCoord_1=299;refseq.codonCoord_2=232;refseq.codonCoord_3=232;refseq.end_1=9877371;refseq.end_2=9877371;refseq.end_3=9877371;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1344;refseq.mrnaCoord_2=875;refseq.mrnaCoord_3=1141;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L299I;refseq.proteinCoordStr_2=p.L232I;refseq.proteinCoordStr_3=p.L232I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-786;refseq.spliceDist_2=-786;refseq.spliceDist_3=-786;refseq.start_1=9877371;refseq.start_2=9877371;refseq.start_3=9877371;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=FilteredInAll GT 1/0 chr18 9877394 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=29.65;MQ=62.73;MQ0=19;OQ=8606.65;QD=20.25;RankSumP=8.58694e-05;SB=-3125.68;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.918C>T;refseq.codingCoordStr_2=c.717C>T;refseq.codingCoordStr_3=c.717C>T;refseq.codonCoord_1=306;refseq.codonCoord_2=239;refseq.codonCoord_3=239;refseq.end_1=9877394;refseq.end_2=9877394;refseq.end_3=9877394;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1367;refseq.mrnaCoord_2=898;refseq.mrnaCoord_3=1164;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A306A;refseq.proteinCoordStr_2=p.A239A;refseq.proteinCoordStr_3=p.A239A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-763;refseq.spliceDist_2=-763;refseq.spliceDist_3=-763;refseq.start_1=9877394;refseq.start_2=9877394;refseq.start_3=9877394;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=filterInsoap-gatk GT 0/1 chr18 9877403 . C T 15 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.255279;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.927C>T;refseq.codingCoordStr_2=c.726C>T;refseq.codingCoordStr_3=c.726C>T;refseq.codonCoord_1=309;refseq.codonCoord_2=242;refseq.codonCoord_3=242;refseq.end_1=9877403;refseq.end_2=9877403;refseq.end_3=9877403;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=907;refseq.mrnaCoord_3=1173;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P309P;refseq.proteinCoordStr_2=p.P242P;refseq.proteinCoordStr_3=p.P242P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-754;refseq.spliceDist_2=-754;refseq.spliceDist_3=-754;refseq.start_1=9877403;refseq.start_2=9877403;refseq.start_3=9877403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=FilteredInAll GT 0/1 chr18 9877429 . C T 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=422;Dels=0.00;HRun=0;HaplotypeScore=30.89;MQ=63.82;MQ0=29;OQ=2132.11;QD=5.05;RankSumP=0.00136286;SB=-905.74;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.953C>T;refseq.codingCoordStr_2=c.752C>T;refseq.codingCoordStr_3=c.752C>T;refseq.codonCoord_1=318;refseq.codonCoord_2=251;refseq.codonCoord_3=251;refseq.end_1=9877429;refseq.end_2=9877429;refseq.end_3=9877429;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1402;refseq.mrnaCoord_2=933;refseq.mrnaCoord_3=1199;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P318L;refseq.proteinCoordStr_2=p.P251L;refseq.proteinCoordStr_3=p.P251L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-728;refseq.spliceDist_2=-728;refseq.spliceDist_3=-728;refseq.start_1=9877429;refseq.start_2=9877429;refseq.start_3=9877429;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=FilteredInAll GT 0/1 chr18 9877433 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=422;Dels=0.00;HRun=1;HaplotypeScore=29.53;MQ=64.14;MQ0=28;OQ=2122.67;QD=5.03;RankSumP=0.0606499;SB=-976.96;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.957A>G;refseq.codingCoordStr_2=c.756A>G;refseq.codingCoordStr_3=c.756A>G;refseq.codonCoord_1=319;refseq.codonCoord_2=252;refseq.codonCoord_3=252;refseq.end_1=9877433;refseq.end_2=9877433;refseq.end_3=9877433;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=937;refseq.mrnaCoord_3=1203;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E319E;refseq.proteinCoordStr_2=p.E252E;refseq.proteinCoordStr_3=p.E252E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-724;refseq.spliceDist_2=-724;refseq.spliceDist_3=-724;refseq.start_1=9877433;refseq.start_2=9877433;refseq.start_3=9877433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr18 9877493 . T C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.108929;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1017T>C;refseq.codingCoordStr_2=c.816T>C;refseq.codingCoordStr_3=c.816T>C;refseq.codonCoord_1=339;refseq.codonCoord_2=272;refseq.codonCoord_3=272;refseq.end_1=9877493;refseq.end_2=9877493;refseq.end_3=9877493;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1466;refseq.mrnaCoord_2=997;refseq.mrnaCoord_3=1263;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P339P;refseq.proteinCoordStr_2=p.P272P;refseq.proteinCoordStr_3=p.P272P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-664;refseq.spliceDist_2=-664;refseq.spliceDist_3=-664;refseq.start_1=9877493;refseq.start_2=9877493;refseq.start_3=9877493;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=soap GT 1/0 chr18 9877497 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=530;Dels=0.00;HRun=1;HaplotypeScore=34.62;MQ=65.00;MQ0=23;OQ=9625.83;QD=18.16;RankSumP=0.462648;SB=-3526.29;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1021G>A;refseq.codingCoordStr_2=c.820G>A;refseq.codingCoordStr_3=c.820G>A;refseq.codonCoord_1=341;refseq.codonCoord_2=274;refseq.codonCoord_3=274;refseq.end_1=9877497;refseq.end_2=9877497;refseq.end_3=9877497;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1470;refseq.mrnaCoord_2=1001;refseq.mrnaCoord_3=1267;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E341K;refseq.proteinCoordStr_2=p.E274K;refseq.proteinCoordStr_3=p.E274K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.spliceDist_1=-660;refseq.spliceDist_2=-660;refseq.spliceDist_3=-660;refseq.start_1=9877497;refseq.start_2=9877497;refseq.start_3=9877497;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/0 chr18 9877546 . G A 263.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=503;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=85.92;MQ0=6;OQ=9210.56;QD=18.31;RankSumP=0.459736;SB=-3524.38;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1070G>A;refseq.codingCoordStr_2=c.869G>A;refseq.codingCoordStr_3=c.869G>A;refseq.codonCoord_1=357;refseq.codonCoord_2=290;refseq.codonCoord_3=290;refseq.end_1=9877546;refseq.end_2=9877546;refseq.end_3=9877546;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1519;refseq.mrnaCoord_2=1050;refseq.mrnaCoord_3=1316;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G357D;refseq.proteinCoordStr_2=p.G290D;refseq.proteinCoordStr_3=p.G290D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-611;refseq.spliceDist_2=-611;refseq.spliceDist_3=-611;refseq.start_1=9877546;refseq.start_2=9877546;refseq.start_3=9877546;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/0 chr18 9877888 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1412T>G;refseq.codingCoordStr_2=c.1211T>G;refseq.codingCoordStr_3=c.1211T>G;refseq.codonCoord_1=471;refseq.codonCoord_2=404;refseq.codonCoord_3=404;refseq.end_1=9877888;refseq.end_2=9877888;refseq.end_3=9877888;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1861;refseq.mrnaCoord_2=1392;refseq.mrnaCoord_3=1658;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V471G;refseq.proteinCoordStr_2=p.V404G;refseq.proteinCoordStr_3=p.V404G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-269;refseq.spliceDist_2=-269;refseq.spliceDist_3=-269;refseq.start_1=9877888;refseq.start_2=9877888;refseq.start_3=9877888;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr18 9878069 . A G 159.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=98.65;MQ0=0;OQ=1855.60;QD=17.84;RankSumP=0.481784;SB=-699.83;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1593A>G;refseq.codingCoordStr_2=c.1392A>G;refseq.codingCoordStr_3=c.1392A>G;refseq.codonCoord_1=531;refseq.codonCoord_2=464;refseq.codonCoord_3=464;refseq.end_1=9878069;refseq.end_2=9878069;refseq.end_3=9878069;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2042;refseq.mrnaCoord_2=1573;refseq.mrnaCoord_3=1839;refseq.name2_1=TXNDC2;refseq.name2_2=TXNDC2;refseq.name2_3=TXNDC2;refseq.name_1=NM_001098529;refseq.name_2=NM_001098530;refseq.name_3=NM_032243;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E531E;refseq.proteinCoordStr_2=p.E464E;refseq.proteinCoordStr_3=p.E464E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.spliceDist_3=-88;refseq.start_1=9878069;refseq.start_2=9878069;refseq.start_3=9878069;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr18 10681246 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=166;Dels=0.00;HRun=0;HaplotypeScore=10.17;MQ=98.72;MQ0=0;OQ=2063.27;QD=12.43;RankSumP=0.476891;SB=-944.94;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.6987C>T;refseq.codonCoord=2329;refseq.end=10681246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7161;refseq.name=NM_022068;refseq.name2=FAM38B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2329Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-24;refseq.start=10681246;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr18 10681291 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=3.79633e-08;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.6942C>A;refseq.codonCoord=2314;refseq.end=10681291;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7116;refseq.name=NM_022068;refseq.name2=FAM38B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2314*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-69;refseq.start=10681291;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr18 10681357 . G A 296.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5266.19;QD=43.88;RankSumP=1.00000;SB=-1946.43;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.6876C>T;refseq.codonCoord=2292;refseq.end=10681357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7050;refseq.name=NM_022068;refseq.name2=FAM38B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2292A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=25;refseq.start=10681357;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr18 10686227 . C T 427.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=98.96;MQ0=0;OQ=6855.29;QD=40.56;RankSumP=1.00000;SB=-2988.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.6696G>A;refseq.codonCoord=2232;refseq.end=10686227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6870;refseq.name=NM_022068;refseq.name2=FAM38B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2232P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=60;refseq.start=10686227;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr18 11876563 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=98.78;MQ0=0;OQ=6831.24;QD=26.38;RankSumP=0.385047;SB=-1821.29;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.802G>C;refseq.codonCoord=268;refseq.end=11876563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_023075;refseq.name2=MPPE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A268P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=58;refseq.start=11876563;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr18 12244956 rs34939372 G A 22.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=99.00;MQ0=0;QD=4.47;SB=-36.52;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.140+1;refseq.end_1=12252813;refseq.end_2=12244956;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CIDEA;refseq.name2_2=CIDEA;refseq.name_1=NM_001279;refseq.name_2=NM_198289;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_2=1;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=12244431;refseq.start_2=12244956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:3,2:5:-7.02,-1.51,-11.91:55.16 chr18 12264104 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=111;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.60;MQ0=0;OQ=1659.30;QD=14.95;RankSumP=0.0775739;SB=-393.75;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.343G>T;refseq.codingCoordStr_2=c.445G>T;refseq.codonCoord_1=115;refseq.codonCoord_2=149;refseq.end_1=12264104;refseq.end_2=12264104;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=633;refseq.name2_1=CIDEA;refseq.name2_2=CIDEA;refseq.name_1=NM_001279;refseq.name_2=NM_198289;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V115F;refseq.proteinCoordStr_2=p.V149F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=12264104;refseq.start_2=12264104;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr18 12298793 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=14.18;MQ=98.12;MQ0=0;OQ=2324.02;QD=15.60;RankSumP=0.448503;SB=-428.47;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.165G>C;refseq.codonCoord=55;refseq.end=12298793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_032525;refseq.name2=TUBB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S55S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=12298793;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr18 12338285 . T C 236.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=5.43;MQ=98.94;MQ0=0;OQ=5485.47;QD=17.58;RankSumP=0.207737;SB=-1157.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1650A>G;refseq.codonCoord=550;refseq.end=12338285;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1763;refseq.name=NM_006796;refseq.name2=AFG3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E550E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-14;refseq.start=12338285;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr18 12341342 . C T 353.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=10.68;MQ=98.81;MQ0=0;OQ=4902.94;QD=20.01;RankSumP=0.0146360;SB=-2047.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1389G>A;refseq.codonCoord=463;refseq.end=12341342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1502;refseq.name=NM_006796;refseq.name2=AFG3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L463L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-38;refseq.start=12341342;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr18 12442381 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1885C>G;refseq.codingCoordStr_2=c.1483C>G;refseq.codingCoordStr_3=c.1843C>G;refseq.codonCoord_1=629;refseq.codonCoord_2=495;refseq.codonCoord_3=615;refseq.end_1=12442381;refseq.end_2=12442381;refseq.end_3=12442381;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1932;refseq.mrnaCoord_2=1588;refseq.mrnaCoord_3=1890;refseq.name2_1=SPIRE1;refseq.name2_2=SPIRE1;refseq.name2_3=SPIRE1;refseq.name_1=NM_001128626;refseq.name_2=NM_001128627;refseq.name_3=NM_020148;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P629A;refseq.proteinCoordStr_2=p.P495A;refseq.proteinCoordStr_3=p.P615A;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=12442381;refseq.start_2=12442381;refseq.start_3=12442381;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr18 12938134 . G C 43 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=2.92223e-06;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.14G>C;refseq.codingCoordStr_2=c.14G>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=12938134;refseq.end_2=12938134;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=152;refseq.mrnaCoord_2=152;refseq.name2_1=SEH1L;refseq.name2_2=SEH1L;refseq.name_1=NM_001013437;refseq.name_2=NM_031216;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R5P;refseq.proteinCoordStr_2=p.R5P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=12938134;refseq.start_2=12938134;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr18 12974144 . C A 110.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=2;HaplotypeScore=10.86;MQ=98.80;MQ0=0;OQ=5817.86;QD=19.01;RankSumP=0.169484;SB=-2011.63;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1025C>A;refseq.codingCoordStr_2=c.1025C>A;refseq.codonCoord_1=342;refseq.codonCoord_2=342;refseq.end_1=12974144;refseq.end_2=12974144;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1163;refseq.mrnaCoord_2=1163;refseq.name2_1=SEH1L;refseq.name2_2=SEH1L;refseq.name_1=NM_001013437;refseq.name_2=NM_031216;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T342N;refseq.proteinCoordStr_2=p.T342N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=12974144;refseq.start_2=12974144;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr18 13043057 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3157A>C;refseq.codonCoord=1053;refseq.end=13043057;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3237;refseq.name=NM_032142;refseq.name2=CEP192;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1053P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-33;refseq.start=13043057;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr18 13058132 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=9.95;MQ=98.82;MQ0=0;OQ=1688.09;QD=15.93;RankSumP=0.386182;SB=-477.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.4654T>C;refseq.codonCoord=1552;refseq.end=13058132;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4734;refseq.name=NM_032142;refseq.name2=CEP192;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1552P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=40;refseq.start=13058132;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr18 13059782 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=15.12;MQ=98.88;MQ0=0;OQ=7820.10;QD=22.73;RankSumP=0.426453;SB=-2746.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.5101C>T;refseq.codonCoord=1701;refseq.end=13059782;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5181;refseq.name=NM_032142;refseq.name2=CEP192;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1701F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=46;refseq.start=13059782;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr18 13085609 . T C 102.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=5.62;MQ=98.51;MQ0=0;OQ=2095.33;QD=13.69;RankSumP=0.00324284;SB=-423.57;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.6362T>C;refseq.codonCoord=2121;refseq.end=13085609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6442;refseq.name=NM_032142;refseq.name2=CEP192;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2121P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-72;refseq.start=13085609;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr18 13106432 . G T 367.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=318;Dels=0.00;HRun=0;HaplotypeScore=8.16;MQ=98.80;MQ0=0;OQ=6000.54;QD=18.87;RankSumP=0.285861;SB=-2233.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.7346G>T;refseq.codonCoord=2449;refseq.end=13106432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7426;refseq.name=NM_032142;refseq.name2=CEP192;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2449L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=57;refseq.start=13106432;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr18 13816694 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=256;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.81;MQ0=0;OQ=5359.63;QD=20.94;RankSumP=0.362874;SB=-1462.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.930T>C;refseq.codonCoord=310;refseq.end=13816694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=930;refseq.name=NM_005913;refseq.name2=MC5R;refseq.positionType=CDS;refseq.proteinCoordStr=p.I310I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-49;refseq.start=13816694;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr18 13875217 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.301A>C;refseq.codonCoord=101;refseq.end=13875217;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_000529;refseq.name2=MC2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T101P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=429;refseq.start=13875217;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr18 14095923 . T C 432.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.35;MQ0=0;OQ=8103.34;QD=42.65;RankSumP=1.00000;SB=-2339.26;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.616A>G;refseq.codonCoord_2=206;refseq.end_1=14122263;refseq.end_2=14095923;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=829;refseq.name2_1=ZNF519;refseq.name2_2=ZNF519;refseq.name_1=NR_033354;refseq.name_2=NM_145287;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K206E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=486;refseq.start_1=14075086;refseq.start_2=14095923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr18 14096259 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.280C>A;refseq.codonCoord_2=94;refseq.end_1=14122263;refseq.end_2=14096259;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=493;refseq.name2_1=ZNF519;refseq.name2_2=ZNF519;refseq.name_1=NR_033354;refseq.name_2=NM_145287;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q94K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=150;refseq.start_1=14075086;refseq.start_2=14096259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr18 14173680 . G A 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.174588;SecondBestBaseQ=33;set=soap GT 1/0 chr18 14173710 . A G 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0286783;SecondBestBaseQ=34;set=soap GT 0/1 chr18 14173720 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=669;Dels=0.00;HRun=0;HaplotypeScore=119.97;MQ=43.66;MQ0=290;OQ=14195.94;QD=21.22;RankSumP=0.338963;SB=-4303.26;SecondBestBaseQ=32;set=soap-filterIngatk GT 0/1 chr18 14173734 . A G 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.283511;SecondBestBaseQ=34;set=soap GT 0/1 chr18 14173747 . T C 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.443456;SecondBestBaseQ=33;set=soap GT 1/0 chr18 14173953 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;set=FilteredInAll GT 0/1 chr18 14174005 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.0635044;SecondBestBaseQ=32;set=soap GT 0/1 chr18 14174006 . G C 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.130282;SecondBestBaseQ=23;set=soap GT 0/1 chr18 14174023 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.390570;SecondBestBaseQ=32;set=soap GT 1/0 chr18 14174043 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.385940;SecondBestBaseQ=33;set=soap GT 1/0 chr18 14174079 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.469902;SecondBestBaseQ=33;set=soap GT 0/1 chr18 14174100 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.401361;SecondBestBaseQ=33;set=soap GT 0/1 chr18 16787610 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.530565;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3988C>T;refseq.codonCoord=1330;refseq.end=16787610;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4929;refseq.name=NM_005406;refseq.name2=ROCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1330*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-74;refseq.start=16787610;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=soap GT 1/0 chr18 16788946 . G C 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.521849;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3649C>G;refseq.codonCoord=1217;refseq.end=16788946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4590;refseq.name=NM_005406;refseq.name2=ROCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1217E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=58;refseq.start=16788946;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 0/1 chr18 16818481 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2207.07;QD=23.23;RankSumP=0.241596;SB=-675.19;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2318C>G;refseq.codonCoord=773;refseq.end=16818481;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3259;refseq.name=NM_005406;refseq.name2=ROCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T773S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=14;refseq.start=16818481;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr18 17407492 . C T 420.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.92;MQ0=0;OQ=7655.22;QD=42.29;RankSumP=1.00000;SB=-1966.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1311G>A;refseq.codonCoord=437;refseq.end=17407492;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2245;refseq.name=NM_052911;refseq.name2=ESCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T437T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-220;refseq.start=17407492;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr18 17408141 . G A 271.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=494;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.92;MQ0=0;OQ=9787.69;QD=19.81;RankSumP=0.287436;SB=-3251.39;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.662C>T;refseq.codonCoord=221;refseq.end=17408141;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1596;refseq.name=NM_052911;refseq.name2=ESCO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T221M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-869;refseq.start=17408141;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr18 19028504 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_2=c.1010+2;refseq.codingCoordStr_3=c.215+2;refseq.end_1=19028504;refseq.end_2=19028504;refseq.end_3=19028504;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=CABLES1;refseq.name2_2=CABLES1;refseq.name2_3=CABLES1;refseq.name_1=NR_023359;refseq.name_2=NM_001100619;refseq.name_3=NM_138375;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=19028504;refseq.start_2=19028504;refseq.start_3=19028504;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 1/0 chr18 19207718 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2056.35;QD=21.65;RankSumP=0.0910712;SB=-756.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.391C>T;refseq.codonCoord=131;refseq.end=19207718;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_032933;refseq.name2=C18orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.L131F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=19207718;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr18 19354238 . C T 437.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.54;MQ0=0;OQ=6229.76;QD=37.53;RankSumP=1.00000;SB=-2743.56;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.924C>T;refseq.codonCoord=308;refseq.end=19354238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_013326;refseq.name2=C18orf8;refseq.positionType=CDS;refseq.proteinCoordStr=p.P308P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-38;refseq.start=19354238;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr18 19363248 . T C 256.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=2691.91;QD=32.83;RankSumP=1.00000;SB=-1198.82;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1404T>C;refseq.codonCoord=468;refseq.end=19363248;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1525;refseq.name=NM_013326;refseq.name2=C18orf8;refseq.positionType=CDS;refseq.proteinCoordStr=p.F468F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-13;refseq.start=19363248;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr18 19373775 . G A 332.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=3.46;MQ=98.61;MQ0=0;OQ=8363.14;QD=42.24;RankSumP=1.00000;SB=-2609.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2793C>T;refseq.codonCoord=931;refseq.end=19373775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3067;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N931N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=19373775;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr18 19374442 . T C 286.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=98.45;MQ0=0;OQ=7990.25;QD=38.60;RankSumP=1.00000;SB=-3037.39;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2572A>G;refseq.codonCoord=858;refseq.end=19374442;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2846;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I858V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-33;refseq.start=19374442;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr18 19375115 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.11893e-06;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2429T>G;refseq.codonCoord=810;refseq.end=19375115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2703;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V810G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=56;refseq.start=19375115;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr18 19378943 . C G 181.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=97.14;MQ0=0;OQ=6473.31;QD=43.45;RankSumP=1.00000;SB=-2267.42;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1926G>C;refseq.codonCoord=642;refseq.end=19378943;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M642I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-22;refseq.start=19378943;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr18 19390272 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1259A>C;refseq.codonCoord=420;refseq.end=19390272;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1533;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y420S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-68;refseq.start=19390272;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr18 19394430 . T C 390.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.87;MQ0=0;OQ=3431.84;QD=37.71;RankSumP=1.00000;SB=-1118.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.644A>G;refseq.codonCoord=215;refseq.end=19394430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=918;refseq.name=NM_000271;refseq.name2=NPC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H215R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=13;refseq.start=19394430;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr18 19618080 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1564A>C;refseq.codingCoordStr_2=c.1564A>C;refseq.codonCoord_1=522;refseq.codonCoord_2=522;refseq.end_1=19618080;refseq.end_2=19618080;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1650;refseq.mrnaCoord_2=1650;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name_1=NM_001127717;refseq.name_2=NM_198129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T522P;refseq.proteinCoordStr_2=p.T522P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=19618080;refseq.start_2=19618080;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr18 19667867 . T C 153.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=5.96;MQ=98.65;MQ0=0;OQ=1710.21;QD=13.57;RankSumP=0.184510;SB=-843.49;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2901T>C;refseq.codingCoordStr_2=c.2901T>C;refseq.codonCoord_1=967;refseq.codonCoord_2=967;refseq.end_1=19667867;refseq.end_2=19667867;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2987;refseq.mrnaCoord_2=2987;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name_1=NM_001127717;refseq.name_2=NM_198129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A967A;refseq.proteinCoordStr_2=p.A967A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=19667867;refseq.start_2=19667867;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr18 19691929 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=335;Dels=0.00;HRun=0;HaplotypeScore=18.03;MQ=98.78;MQ0=0;OQ=7881.15;QD=23.53;RankSumP=0.0882722;SB=-2328.69;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.4260G>C;refseq.codingCoordStr_2=c.4260G>C;refseq.codonCoord_1=1420;refseq.codonCoord_2=1420;refseq.end_1=19691929;refseq.end_2=19691929;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4346;refseq.mrnaCoord_2=4346;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name_1=NM_001127717;refseq.name_2=NM_198129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1420G;refseq.proteinCoordStr_2=p.G1420G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=19691929;refseq.start_2=19691929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 0/1 chr18 19695700 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=6.91;MQ=98.58;MQ0=0;OQ=1302.26;QD=12.29;RankSumP=0.00770865;SB=-465.63;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.4515T>C;refseq.codingCoordStr_2=c.4515T>C;refseq.codonCoord_1=1505;refseq.codonCoord_2=1505;refseq.end_1=19695700;refseq.end_2=19695700;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4601;refseq.mrnaCoord_2=4601;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name_1=NM_001127717;refseq.name_2=NM_198129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1505D;refseq.proteinCoordStr_2=p.D1505D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.start_1=19695700;refseq.start_2=19695700;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=filterInsoap-gatk GT 1/0 chr18 19695715 . C T 227.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.69;MQ0=0;OQ=1624.91;QD=15.33;RankSumP=0.398727;SB=-505.93;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.4530C>T;refseq.codingCoordStr_2=c.4530C>T;refseq.codonCoord_1=1510;refseq.codonCoord_2=1510;refseq.end_1=19695715;refseq.end_2=19695715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4616;refseq.mrnaCoord_2=4616;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name_1=NM_001127717;refseq.name_2=NM_198129;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1510P;refseq.proteinCoordStr_2=p.P1510P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=19695715;refseq.start_2=19695715;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr18 19735231 . C G 344.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=8.48;MQ=98.62;MQ0=0;OQ=5715.50;QD=21.33;RankSumP=0.399793;SB=-2130.58;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.1320C>G;refseq.codingCoordStr_2=c.5979C>G;refseq.codingCoordStr_3=c.1152C>G;refseq.codingCoordStr_4=c.6147C>G;refseq.codonCoord_1=440;refseq.codonCoord_2=1993;refseq.codonCoord_3=384;refseq.codonCoord_4=2049;refseq.end_1=19735231;refseq.end_2=19735231;refseq.end_3=19735231;refseq.end_4=19735231;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1345;refseq.mrnaCoord_2=6065;refseq.mrnaCoord_3=1177;refseq.mrnaCoord_4=6233;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name2_3=LAMA3;refseq.name2_4=LAMA3;refseq.name_1=NM_000227;refseq.name_2=NM_001127717;refseq.name_3=NM_001127718;refseq.name_4=NM_198129;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A440A;refseq.proteinCoordStr_2=p.A1993A;refseq.proteinCoordStr_3=p.A384A;refseq.proteinCoordStr_4=p.A2049A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.start_1=19735231;refseq.start_2=19735231;refseq.start_3=19735231;refseq.start_4=19735231;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/0 chr18 19765087 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=319;Dels=0.00;HRun=1;HaplotypeScore=39.52;MQ=97.99;MQ0=0;OQ=11095.75;QD=34.78;RankSumP=1.00000;SB=-2290.31;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.3673A>G;refseq.codingCoordStr_2=c.8332A>G;refseq.codingCoordStr_3=c.3505A>G;refseq.codingCoordStr_4=c.8500A>G;refseq.codonCoord_1=1225;refseq.codonCoord_2=2778;refseq.codonCoord_3=1169;refseq.codonCoord_4=2834;refseq.end_1=19765087;refseq.end_2=19765087;refseq.end_3=19765087;refseq.end_4=19765087;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3698;refseq.mrnaCoord_2=8418;refseq.mrnaCoord_3=3530;refseq.mrnaCoord_4=8586;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name2_3=LAMA3;refseq.name2_4=LAMA3;refseq.name_1=NM_000227;refseq.name_2=NM_001127717;refseq.name_3=NM_001127718;refseq.name_4=NM_198129;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S1225G;refseq.proteinCoordStr_2=p.S2778G;refseq.proteinCoordStr_3=p.S1169G;refseq.proteinCoordStr_4=p.S2834G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.spliceDist_4=64;refseq.start_1=19765087;refseq.start_2=19765087;refseq.start_3=19765087;refseq.start_4=19765087;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=Intersection GT 1/1 chr18 19773302 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.4153A>C;refseq.codingCoordStr_2=c.8812A>C;refseq.codingCoordStr_3=c.3985A>C;refseq.codingCoordStr_4=c.8980A>C;refseq.codonCoord_1=1385;refseq.codonCoord_2=2938;refseq.codonCoord_3=1329;refseq.codonCoord_4=2994;refseq.end_1=19773302;refseq.end_2=19773302;refseq.end_3=19773302;refseq.end_4=19773302;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4178;refseq.mrnaCoord_2=8898;refseq.mrnaCoord_3=4010;refseq.mrnaCoord_4=9066;refseq.name2_1=LAMA3;refseq.name2_2=LAMA3;refseq.name2_3=LAMA3;refseq.name2_4=LAMA3;refseq.name_1=NM_000227;refseq.name_2=NM_001127717;refseq.name_3=NM_001127718;refseq.name_4=NM_198129;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T1385P;refseq.proteinCoordStr_2=p.T2938P;refseq.proteinCoordStr_3=p.T1329P;refseq.proteinCoordStr_4=p.T2994P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.spliceDist_3=-47;refseq.spliceDist_4=-47;refseq.start_1=19773302;refseq.start_2=19773302;refseq.start_3=19773302;refseq.start_4=19773302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr18 19959438 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=215;Dels=0.00;HRun=0;HaplotypeScore=18.42;MQ=98.72;MQ0=0;OQ=3958.57;QD=18.41;RankSumP=0.420782;SB=-1287.61;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1346C>T;refseq.codingCoordStr_2=c.1163C>T;refseq.codonCoord_1=449;refseq.codonCoord_2=388;refseq.end_1=19959438;refseq.end_2=19959438;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1798;refseq.mrnaCoord_2=1445;refseq.name2_1=TTC39C;refseq.name2_2=TTC39C;refseq.name_1=NM_001135993;refseq.name_2=NM_153211;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A449V;refseq.proteinCoordStr_2=p.A388V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=19959438;refseq.start_2=19959438;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr18 19964319 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=7771.49;QD=44.16;RankSumP=1.00000;SB=-3163.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1563C>T;refseq.codingCoordStr_2=c.1380C>T;refseq.codonCoord_1=521;refseq.codonCoord_2=460;refseq.end_1=19964319;refseq.end_2=19964319;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2015;refseq.mrnaCoord_2=1662;refseq.name2_1=TTC39C;refseq.name2_2=TTC39C;refseq.name_1=NM_001135993;refseq.name_2=NM_153211;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N521N;refseq.proteinCoordStr_2=p.N460N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=19964319;refseq.start_2=19964319;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr18 19993723 . T C 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=2;HaplotypeScore=11.18;MQ=98.95;MQ0=0;OQ=11696.91;QD=37.98;RankSumP=1.00000;SB=-4454.43;SecondBestBaseQ=34;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_6=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.chr_6=chr18;refseq.codingCoordStr_2=c.*306T>C;refseq.codingCoordStr_3=c.537T>C;refseq.codingCoordStr_4=c.831T>C;refseq.codingCoordStr_5=c.*306T>C;refseq.codingCoordStr_6=c.831T>C;refseq.codonCoord_3=179;refseq.codonCoord_4=277;refseq.codonCoord_6=277;refseq.end_1=19993897;refseq.end_2=19993723;refseq.end_3=19993723;refseq.end_4=19993723;refseq.end_5=19993723;refseq.end_6=19993723;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=1940;refseq.mrnaCoord_3=760;refseq.mrnaCoord_4=891;refseq.mrnaCoord_5=1886;refseq.mrnaCoord_6=983;refseq.name2_1=CABYR;refseq.name2_2=CABYR;refseq.name2_3=CABYR;refseq.name2_4=CABYR;refseq.name2_5=CABYR;refseq.name2_6=CABYR;refseq.name_1=NM_153770;refseq.name_2=NM_012189;refseq.name_3=NM_138643;refseq.name_4=NM_138644;refseq.name_5=NM_153768;refseq.name_6=NM_153769;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.P179P;refseq.proteinCoordStr_4=p.P277P;refseq.proteinCoordStr_6=p.P277P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_6=Pro;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_6=CCT;refseq.spliceDist_2=290;refseq.spliceDist_3=290;refseq.spliceDist_4=290;refseq.spliceDist_5=290;refseq.spliceDist_6=290;refseq.start_1=19990015;refseq.start_2=19993723;refseq.start_3=19993723;refseq.start_4=19993723;refseq.start_5=19993723;refseq.start_6=19993723;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_6=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_6=CCC;set=Intersection GT 1/1 chr18 20274465 . T A 145.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=1;HaplotypeScore=9.94;MQ=98.80;MQ0=0;OQ=4619.88;QD=19.83;RankSumP=0.369744;SB=-1245.94;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.375T>A;refseq.codonCoord=125;refseq.end=20274465;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_018439;refseq.name2=IMPACT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D125E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=20274465;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr18 20274541 . C G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=426;Dels=0.00;HRun=1;HaplotypeScore=11.30;MQ=98.97;MQ0=0;OQ=20913.17;QD=49.09;RankSumP=1.00000;SB=-8262.49;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.451C>G;refseq.codonCoord=151;refseq.end=20274541;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_018439;refseq.name2=IMPACT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L151V;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-40;refseq.start=20274541;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr18 22119849 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=558;Dels=0.00;HRun=0;HaplotypeScore=40.81;MQ=98.55;MQ0=0;OQ=9141.41;QD=16.38;RankSumP=0.00542951;SB=-2552.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.978C>T;refseq.codonCoord=326;refseq.end=22119849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1467;refseq.name=NM_005640;refseq.name2=TAF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S326S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=22119849;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 0/1 chr18 22126233 . A G 206.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=98.92;MQ0=0;OQ=8122.12;QD=21.15;RankSumP=0.142014;SB=-2601.77;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1616A>G;refseq.codonCoord=539;refseq.end=22126233;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2105;refseq.name=NM_005640;refseq.name2=TAF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N539S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=26;refseq.start=22126233;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr18 22127461 . T C 210.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=1719.90;QD=19.11;RankSumP=0.358048;SB=-472.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1800T>C;refseq.codonCoord=600;refseq.end=22127461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2289;refseq.name=NM_005640;refseq.name2=TAF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N600N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-33;refseq.start=22127461;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr18 22149232 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1874T>G;refseq.codonCoord=625;refseq.end=22149232;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2363;refseq.name=NM_005640;refseq.name2=TAF4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V625G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=42;refseq.start=22149232;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr18 22696390 . C A 333.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=4486.59;QD=39.70;RankSumP=1.00000;SB=-2044.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.201G>T;refseq.codingCoordStr_2=c.135G>T;refseq.codonCoord_1=67;refseq.codonCoord_2=45;refseq.end_1=22696390;refseq.end_2=22696390;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=264;refseq.mrnaCoord_2=184;refseq.name2_1=AQP4;refseq.name2_2=AQP4;refseq.name_1=NM_001650;refseq.name_2=NM_004028;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P67P;refseq.proteinCoordStr_2=p.P45P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=169;refseq.spliceDist_2=184;refseq.start_1=22696390;refseq.start_2=22696390;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr18 23797385 . G A 234.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=99.00;MQ0=0;OQ=1816.77;QD=15.14;RankSumP=0.164417;SB=-718.18;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2448C>T;refseq.codonCoord=816;refseq.end=23797385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2907;refseq.name=NM_001792;refseq.name2=CDH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A816A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-67;refseq.start=23797385;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr18 23819080 . A G 447.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.82;MQ0=0;OQ=6841.10;QD=37.38;RankSumP=1.00000;SB=-1725.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2091T>C;refseq.codonCoord=697;refseq.end=23819080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2550;refseq.name=NM_001792;refseq.name2=CDH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R697R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=116;refseq.start=23819080;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr18 23824226 . G C 255.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=98.53;MQ0=0;OQ=11248.64;QD=45.18;RankSumP=1.00000;SB=-4800.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1431C>G;refseq.codonCoord=477;refseq.end=23824226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1890;refseq.name=NM_001792;refseq.name2=CDH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P477P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=87;refseq.start=23824226;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr18 26840962 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=2;HaplotypeScore=6.83;MQ=98.79;MQ0=0;OQ=2761.93;QD=13.95;RankSumP=0.371302;SB=-1354.79;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1797T>C;refseq.codingCoordStr_2=c.1797T>C;refseq.codonCoord_1=599;refseq.codonCoord_2=599;refseq.end_1=26840962;refseq.end_2=26840962;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1952;refseq.mrnaCoord_2=1952;refseq.name2_1=DSC3;refseq.name2_2=DSC3;refseq.name_1=NM_001941;refseq.name_2=NM_024423;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P599P;refseq.proteinCoordStr_2=p.P599P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=26840962;refseq.start_2=26840962;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr18 26865137 . A C 241.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=1720.23;QD=40.01;RankSumP=1.00000;SB=-219.85;SecondBestBaseQ=0;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.155-1;refseq.codingCoordStr_2=c.155-1;refseq.end_1=26865137;refseq.end_2=26865137;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=DSC3;refseq.name2_2=DSC3;refseq.name_1=NM_001941;refseq.name_2=NM_024423;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-acceptor_-1;refseq.spliceInfo_2=splice-acceptor_-1;refseq.start_1=26865137;refseq.start_2=26865137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr18 26974145 . C T 323.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=5.52;MQ=98.77;MQ0=0;OQ=7724.39;QD=19.03;RankSumP=0.197337;SB=-2820.56;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1378G>A;refseq.codingCoordStr_2=c.1378G>A;refseq.codonCoord_1=460;refseq.codonCoord_2=460;refseq.end_1=26974145;refseq.end_2=26974145;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1640;refseq.mrnaCoord_2=1640;refseq.name2_1=DSC1;refseq.name2_2=DSC1;refseq.name_1=NM_004948;refseq.name_2=NM_024421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V460I;refseq.proteinCoordStr_2=p.V460I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=26974145;refseq.start_2=26974145;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr18 26988747 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=971.83;QD=12.30;RankSumP=0.240816;SB=-277.28;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.615T>C;refseq.codingCoordStr_2=c.615T>C;refseq.codonCoord_1=205;refseq.codonCoord_2=205;refseq.end_1=26988747;refseq.end_2=26988747;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=877;refseq.mrnaCoord_2=877;refseq.name2_1=DSC1;refseq.name2_2=DSC1;refseq.name_1=NM_004948;refseq.name_2=NM_024421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y205Y;refseq.proteinCoordStr_2=p.Y205Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=26988747;refseq.start_2=26988747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr18 27152292 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=570;Dels=0.00;HRun=0;HaplotypeScore=17.61;MQ=98.69;MQ0=0;OQ=11696.36;QD=20.52;RankSumP=0.337140;SB=-4969.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.31A>G;refseq.codonCoord=11;refseq.end=27152292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_001942;refseq.name2=DSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M11V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-18;refseq.start=27152292;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr18 27167597 . C T 314.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=98.89;MQ0=0;OQ=7724.06;QD=17.40;RankSumP=0.0101769;SB=-2633.10;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.732C>T;refseq.codonCoord=244;refseq.end=27167597;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_001942;refseq.name2=DSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G244G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=48;refseq.start=27167597;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr18 27222369 . G A 313.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=98.81;MQ0=0;OQ=7640.15;QD=43.16;RankSumP=1.00000;SB=-3325.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.258G>A;refseq.codingCoordStr_2=c.258G>A;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=27222369;refseq.end_2=27222369;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=393;refseq.name2_1=DSG4;refseq.name2_2=DSG4;refseq.name_1=NM_001134453;refseq.name_2=NM_177986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R86R;refseq.proteinCoordStr_2=p.R86R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=27222369;refseq.start_2=27222369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 1/1 chr18 27222957 . C T 237.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=98.63;MQ0=0;OQ=17327.97;QD=41.06;RankSumP=1.00000;SB=-7971.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.495C>T;refseq.codingCoordStr_2=c.495C>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=27222957;refseq.end_2=27222957;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=630;refseq.name2_1=DSG4;refseq.name2_2=DSG4;refseq.name_1=NM_001134453;refseq.name_2=NM_177986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S165S;refseq.proteinCoordStr_2=p.S165S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=27222957;refseq.start_2=27222957;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr18 27240331 . A C 288.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.77;MQ0=0;OQ=16197.58;QD=40.49;RankSumP=1.00000;SB=-4935.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1930A>C;refseq.codingCoordStr_2=c.1930A>C;refseq.codonCoord_1=644;refseq.codonCoord_2=644;refseq.end_1=27240331;refseq.end_2=27240331;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2065;refseq.mrnaCoord_2=2065;refseq.name2_1=DSG4;refseq.name2_2=DSG4;refseq.name_1=NM_001134453;refseq.name_2=NM_177986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I644L;refseq.proteinCoordStr_2=p.I644L;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=27240331;refseq.start_2=27240331;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr18 27247181 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=22.28;MQ=98.74;MQ0=0;OQ=9565.37;QD=17.08;RankSumP=0.439052;SB=-3468.14;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2805A>G;refseq.codingCoordStr_2=c.2748A>G;refseq.codonCoord_1=935;refseq.codonCoord_2=916;refseq.end_1=27247181;refseq.end_2=27247181;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2940;refseq.mrnaCoord_2=2883;refseq.name2_1=DSG4;refseq.name2_2=DSG4;refseq.name_1=NM_001134453;refseq.name_2=NM_177986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P935P;refseq.proteinCoordStr_2=p.P916P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=393;refseq.spliceDist_2=393;refseq.start_1=27247181;refseq.start_2=27247181;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr18 27247499 . C A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=462;Dels=0.00;HRun=1;HaplotypeScore=10.57;MQ=98.77;MQ0=0;OQ=18083.75;QD=39.14;RankSumP=1.00000;SB=-8377.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.3123C>A;refseq.codingCoordStr_2=c.3066C>A;refseq.codonCoord_1=1041;refseq.codonCoord_2=1022;refseq.end_1=27247499;refseq.end_2=27247499;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3258;refseq.mrnaCoord_2=3201;refseq.name2_1=DSG4;refseq.name2_2=DSG4;refseq.name_1=NM_001134453;refseq.name_2=NM_177986;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1041P;refseq.proteinCoordStr_2=p.P1022P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-380;refseq.spliceDist_2=-380;refseq.start_1=27247499;refseq.start_2=27247499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr18 27292534 . C T 192.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=8.73;MQ=98.72;MQ0=0;OQ=4872.41;QD=21.09;RankSumP=0.195746;SB=-1721.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.345C>T;refseq.codonCoord=115;refseq.end=27292534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=454;refseq.name=NM_001944;refseq.name2=DSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V115V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-28;refseq.start=27292534;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr18 27306716 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2068A>C;refseq.codonCoord=690;refseq.end=27306716;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2177;refseq.name=NM_001944;refseq.name2=DSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T690P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=31;refseq.start=27306716;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr18 27308098 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=420;Dels=0.00;HRun=0;HaplotypeScore=11.73;MQ=98.72;MQ0=0;OQ=8030.04;QD=19.12;RankSumP=0.239788;SB=-2586.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2118G>A;refseq.codonCoord=706;refseq.end=27308098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2227;refseq.name=NM_001944;refseq.name2=DSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T706T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=17;refseq.start=27308098;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr18 27309955 . A G 361.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=2473.45;QD=37.48;RankSumP=1.00000;SB=-705.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2734A>G;refseq.codonCoord=912;refseq.end=27309955;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2843;refseq.name=NM_001944;refseq.name2=DSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T912A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=349;refseq.start=27309955;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr18 27358696 . C T 339.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=98.76;MQ0=0;OQ=6001.83;QD=19.68;RankSumP=0.268360;SB=-2211.22;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.861C>T;refseq.codonCoord=287;refseq.end=27358696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1049;refseq.name=NM_001943;refseq.name2=DSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N287N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=33;refseq.start=27358696;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr18 27376797 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=3;HaplotypeScore=1.16;MQ=98.51;MQ0=0;OQ=806.45;QD=12.04;RankSumP=0.384265;SB=-118.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2318G>A;refseq.codonCoord=773;refseq.end=27376797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2506;refseq.name=NM_001943;refseq.name2=DSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R773K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-17;refseq.start=27376797;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr18 27379915 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2568A>C;refseq.codonCoord=856;refseq.end=27379915;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2756;refseq.name=NM_001943;refseq.name2=DSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K856N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=234;refseq.start=27379915;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr18 27380668 . T C 219.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=431;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.79;MQ0=0;OQ=9346.56;QD=21.69;RankSumP=0.286433;SB=-3749.67;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3321T>C;refseq.codonCoord=1107;refseq.end=27380668;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3509;refseq.name=NM_001943;refseq.name2=DSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1107V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=987;refseq.start=27380668;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr18 27593908 . G T 99.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=26.18;MQ0=62;OQ=1489.20;QD=13.92;RankSumP=1.00000;SB=-435.61;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.715C>A;refseq.codonCoord=239;refseq.end=27593908;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_001034172;refseq.name2=MCART2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L239I;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-252;refseq.start=27593908;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr18 27686622 . T C 214.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=1042.38;QD=17.09;RankSumP=0.743513;SB=-395.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3436A>G;refseq.codonCoord=1146;refseq.end=27686622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3800;refseq.name=NM_014939;refseq.name2=KIAA1012;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1146A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=27686622;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr18 27708642 . A G 330.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=98.75;MQ0=0;OQ=4264.69;QD=17.84;RankSumP=0.247964;SB=-1132.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1752T>C;refseq.codonCoord=584;refseq.end=27708642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2116;refseq.name=NM_014939;refseq.name2=KIAA1012;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y584Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=24;refseq.start=27708642;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr18 27742802 . A G 239.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.77;MQ0=0;OQ=3164.35;QD=15.51;RankSumP=0.488266;SB=-1324.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=27742802;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_014939;refseq.name2=KIAA1012;refseq.positionType=CDS;refseq.proteinCoordStr=p.H345H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-88;refseq.start=27742802;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr18 27751571 . A G 247.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=11.25;MQ=98.84;MQ0=0;OQ=6558.60;QD=38.81;RankSumP=1.00000;SB=-3150.50;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.410T>C;refseq.codonCoord=137;refseq.end=27751571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_014939;refseq.name2=KIAA1012;refseq.positionType=CDS;refseq.proteinCoordStr=p.L137S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-33;refseq.start=27751571;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr18 27852845 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.63;MQ0=0;OQ=392.31;QD=18.68;RankSumP=0.455053;SB=-85.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.21C>T;refseq.codonCoord=7;refseq.end=27852845;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_017831;refseq.name2=RNF125;refseq.positionType=CDS;refseq.proteinCoordStr=p.T7T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-144;refseq.start=27852845;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr18 27852958 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.134A>C;refseq.codonCoord=45;refseq.end=27852958;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_017831;refseq.name2=RNF125;refseq.positionType=CDS;refseq.proteinCoordStr=p.H45P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-31;refseq.start=27852958;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr18 27879683 . G A 228.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=390;Dels=0.00;HRun=0;HaplotypeScore=12.30;MQ=98.50;MQ0=0;OQ=7758.71;QD=19.89;RankSumP=0.287995;SB=-1778.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.494G>A;refseq.codonCoord=165;refseq.end=27879683;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_017831;refseq.name2=RNF125;refseq.positionType=CDS;refseq.proteinCoordStr=p.R165Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-11;refseq.start=27879683;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr18 28304354 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=97.59;MQ0=0;OQ=1295.81;QD=19.06;RankSumP=0.432534;SB=-378.38;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.36G>A;refseq.codonCoord=12;refseq.end=28304354;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=92;refseq.name=NM_022751;refseq.name2=FAM59A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K12K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-86;refseq.start=28304354;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr18 28603689 . C T 320.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=98.81;MQ0=0;OQ=8583.20;QD=39.55;RankSumP=1.00000;SB=-3074.74;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.864G>A;refseq.codonCoord=288;refseq.end=28603689;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_020805;refseq.name2=KLHL14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-84;refseq.start=28603689;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr18 29058754 . C T 321.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=98.94;MQ0=0;OQ=6833.04;QD=42.98;RankSumP=1.00000;SB=-2828.82;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1801G>A;refseq.codingCoordStr_2=c.1801G>A;refseq.codonCoord_1=601;refseq.codonCoord_2=601;refseq.end_1=29058754;refseq.end_2=29058754;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1943;refseq.mrnaCoord_2=2012;refseq.name2_1=C18orf34;refseq.name2_2=C18orf34;refseq.name_1=NM_001105528;refseq.name_2=NM_198995;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D601N;refseq.proteinCoordStr_2=p.D601N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=29058754;refseq.start_2=29058754;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr18 29058756 . A C 264.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.94;MQ0=0;OQ=2650.63;QD=16.57;RankSumP=0.0777924;SB=-928.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1799T>G;refseq.codingCoordStr_2=c.1799T>G;refseq.codonCoord_1=600;refseq.codonCoord_2=600;refseq.end_1=29058756;refseq.end_2=29058756;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1941;refseq.mrnaCoord_2=2010;refseq.name2_1=C18orf34;refseq.name2_2=C18orf34;refseq.name_1=NM_001105528;refseq.name_2=NM_198995;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L600R;refseq.proteinCoordStr_2=p.L600R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=29058756;refseq.start_2=29058756;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr18 29100893 . A T 45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=21;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=808.31;QD=38.49;RankSumP=1.00000;SB=-213.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1394T>A;refseq.codingCoordStr_2=c.1394T>A;refseq.codonCoord_1=465;refseq.codonCoord_2=465;refseq.end_1=29100893;refseq.end_2=29100893;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1536;refseq.mrnaCoord_2=1605;refseq.name2_1=C18orf34;refseq.name2_2=C18orf34;refseq.name_1=NM_001105528;refseq.name_2=NM_198995;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V465E;refseq.proteinCoordStr_2=p.V465E;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=29100893;refseq.start_2=29100893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr18 29101178 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.95;MQ0=0;OQ=2634.63;QD=14.01;RankSumP=0.427529;SB=-681.20;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1258G>A;refseq.codingCoordStr_2=c.1258G>A;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.end_1=29101178;refseq.end_2=29101178;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1400;refseq.mrnaCoord_2=1469;refseq.name2_1=C18orf34;refseq.name2_2=C18orf34;refseq.name_1=NM_001105528;refseq.name_2=NM_198995;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D420N;refseq.proteinCoordStr_2=p.D420N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=29101178;refseq.start_2=29101178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr18 29853433 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.903A>C;refseq.codonCoord=301;refseq.end=29853433;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_003787;refseq.name2=NOL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E301D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=131;refseq.start=29853433;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr18 30709228 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.1690T>C;refseq.codingCoordStr_2=c.1519T>C;refseq.codingCoordStr_3=c.634T>C;refseq.codonCoord_1=564;refseq.codonCoord_2=507;refseq.codonCoord_3=212;refseq.end_1=30709228;refseq.end_2=30709228;refseq.end_3=30709228;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1691;refseq.mrnaCoord_2=1870;refseq.mrnaCoord_3=1022;refseq.name2_1=DTNA;refseq.name2_2=DTNA;refseq.name2_3=DTNA;refseq.name_1=NM_001390;refseq.name_2=NM_032975;refseq.name_3=NM_032980;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S564P;refseq.proteinCoordStr_2=p.S507P;refseq.proteinCoordStr_3=p.S212P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=30709228;refseq.start_2=30709228;refseq.start_3=30709228;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr18 31141538 . C T 254.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=98.90;MQ0=0;OQ=2982.57;QD=19.49;RankSumP=0.194985;SB=-1427.75;SecondBestBaseQ=33;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.end_1=31141538;refseq.end_2=31141538;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=1944;refseq.mrnaCoord_2=1721;refseq.name2_1=ZNF271;refseq.name2_2=ZNF271;refseq.name_1=NR_024565;refseq.name_2=NR_024566;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=1601;refseq.spliceDist_2=1601;refseq.start_1=31141538;refseq.start_2=31141538;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr18 31171642 . T C 464.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.52;MQ0=0;OQ=5312.56;QD=40.25;RankSumP=1.00000;SB=-2108.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.659A>G;refseq.codonCoord=220;refseq.end=31171642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=845;refseq.name=NM_006965;refseq.name2=ZNF24;refseq.positionType=CDS;refseq.proteinCoordStr=p.N220S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=91;refseq.start=31171642;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr18 31497611 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=98;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.62;MQ0=0;OQ=1751.92;QD=17.88;RankSumP=0.439471;SB=-559.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.161C>T;refseq.codonCoord=54;refseq.end=31497611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_020474;refseq.name2=GALNT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P54L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=22;refseq.start=31497611;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr18 31901252 . A C 142.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=1238.60;QD=33.48;RankSumP=1.00000;SB=-616.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.114T>G;refseq.codonCoord=38;refseq.end=31901252;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_018170;refseq.name2=RPRD1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R38R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-38;refseq.start=31901252;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr18 31948118 . G A 100.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=1;HaplotypeScore=12.43;MQ=98.82;MQ0=0;OQ=6582.66;QD=19.77;RankSumP=0.166104;SB=-2702.32;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.958C>T;refseq.codingCoordStr_2=c.1783C>T;refseq.codonCoord_1=320;refseq.codonCoord_2=595;refseq.end_1=31948118;refseq.end_2=31948118;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1275;refseq.mrnaCoord_2=2073;refseq.name2_1=SLC39A6;refseq.name2_2=SLC39A6;refseq.name_1=NM_001099406;refseq.name_2=NM_012319;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L320L;refseq.proteinCoordStr_2=p.L595L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=31948118;refseq.start_2=31948118;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr18 31956160 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=558;Dels=0.00;HRun=4;HaplotypeScore=9.09;MQ=98.93;MQ0=0;OQ=11227.71;QD=20.12;RankSumP=0.178985;SB=-3443.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.387C>T;refseq.codingCoordStr_2=c.1212C>T;refseq.codonCoord_1=129;refseq.codonCoord_2=404;refseq.end_1=31956160;refseq.end_2=31956160;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=704;refseq.mrnaCoord_2=1502;refseq.name2_1=SLC39A6;refseq.name2_2=SLC39A6;refseq.name_1=NM_001099406;refseq.name_2=NM_012319;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F129F;refseq.proteinCoordStr_2=p.F404F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.start_1=31956160;refseq.start_2=31956160;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr18 31960612 . C G 99.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1566.05;QD=46.06;RankSumP=1.00000;SB=-563.16;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.357G>C;refseq.codonCoord_2=119;refseq.end_1=31963064;refseq.end_2=31960612;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=647;refseq.name2_1=SLC39A6;refseq.name2_2=SLC39A6;refseq.name_1=NM_001099406;refseq.name_2=NM_012319;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E119D;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=366;refseq.start_1=31958672;refseq.start_2=31960612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr18 31972324 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=245;Dels=0.00;HRun=1;HaplotypeScore=15.55;MQ=98.74;MQ0=0;OQ=4142.43;QD=16.91;RankSumP=0.158790;SB=-785.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.382A>C;refseq.codonCoord=128;refseq.end=31972324;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_018255;refseq.name2=ELP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T128P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-64;refseq.start=31972324;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr18 31979929 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=98.41;MQ0=0;OQ=1178.53;QD=10.52;RankSumP=0.0222855;SB=-456.35;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.913G>A;refseq.codonCoord=305;refseq.end=31979929;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_018255;refseq.name2=ELP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V305M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=21;refseq.start=31979929;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr18 32004044 . C T 240.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=392;Dels=0.00;HRun=0;HaplotypeScore=17.71;MQ=98.83;MQ0=0;OQ=7617.70;QD=19.43;RankSumP=0.294432;SB=-3153.01;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2097C>T;refseq.codonCoord=699;refseq.end=32004044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2107;refseq.name=NM_018255;refseq.name2=ELP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C699C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=21;refseq.start=32004044;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr18 32033819 . C A 225.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=5.54;MQ=97.91;MQ0=0;OQ=5817.92;QD=37.78;RankSumP=1.00000;SB=-2248.14;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.475C>A;refseq.codonCoord=159;refseq.end=32033819;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.R159R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=176;refseq.start=32033819;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr18 32033853 . C T 394.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=98.13;MQ0=0;OQ=5293.57;QD=39.21;RankSumP=1.00000;SB=-2571.75;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.509C>T;refseq.codonCoord=170;refseq.end=32033853;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T170I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=210;refseq.start=32033853;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr18 32033894 . A G 275.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=97.53;MQ0=0;OQ=5243.55;QD=35.91;RankSumP=1.00000;SB=-1626.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.550A>G;refseq.codonCoord=184;refseq.end=32033894;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S184G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=251;refseq.start=32033894;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr18 32034018 . A G 185.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=398;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.91;MQ0=0;OQ=15062.28;QD=37.84;RankSumP=1.00000;SB=-7093.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.674A>G;refseq.codonCoord=225;refseq.end=32034018;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.H225R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-268;refseq.start=32034018;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr18 32039091 . G A 235.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.79;MQ0=0;OQ=12418.27;QD=41.12;RankSumP=1.00000;SB=-5604.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1072G>A;refseq.codonCoord=358;refseq.end=32039091;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V358M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=54;refseq.start=32039091;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr18 32039183 . A G 256.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=98.78;MQ0=0;OQ=14707.61;QD=37.91;RankSumP=1.00000;SB=-6870.30;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1164A>G;refseq.codonCoord=388;refseq.end=32039183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.P388P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-55;refseq.start=32039183;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr18 32085187 . C A 234.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=1;HaplotypeScore=8.49;MQ=98.90;MQ0=0;OQ=5145.63;QD=18.71;RankSumP=0.193059;SB=-1930.07;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2107C>A;refseq.codonCoord=703;refseq.end=32085187;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2130;refseq.name=NM_017947;refseq.name2=MOCOS;refseq.positionType=CDS;refseq.proteinCoordStr=p.H703N;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-58;refseq.start=32085187;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr18 32527277 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=9.80;MQ=98.07;MQ0=0;OQ=1771.06;QD=18.64;RankSumP=0.351836;SB=-395.88;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1604C>G;refseq.codonCoord=535;refseq.end=32527277;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1701;refseq.name=NM_025135;refseq.name2=FHOD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A535G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-108;refseq.start=32527277;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr18 33104844 . G A 328.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=2863.29;QD=39.77;RankSumP=1.00000;SB=-183.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.981C>T;refseq.codingCoordStr_2=c.978C>T;refseq.codingCoordStr_3=c.954C>T;refseq.codingCoordStr_4=c.984C>T;refseq.codonCoord_1=327;refseq.codonCoord_2=326;refseq.codonCoord_3=318;refseq.codonCoord_4=328;refseq.end_1=33104844;refseq.end_2=33104844;refseq.end_3=33104844;refseq.end_4=33104844;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1377;refseq.mrnaCoord_2=1374;refseq.mrnaCoord_3=1350;refseq.mrnaCoord_4=1380;refseq.name2_1=CELF4;refseq.name2_2=CELF4;refseq.name2_3=CELF4;refseq.name2_4=CELF4;refseq.name_1=NM_001025087;refseq.name_2=NM_001025088;refseq.name_3=NM_001025089;refseq.name_4=NM_020180;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A327A;refseq.proteinCoordStr_2=p.A326A;refseq.proteinCoordStr_3=p.A318A;refseq.proteinCoordStr_4=p.A328A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.start_1=33104844;refseq.start_2=33104844;refseq.start_3=33104844;refseq.start_4=33104844;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/1 chr18 37901393 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2567T>G;refseq.codonCoord=856;refseq.end=37901393;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2625;refseq.name=NM_002647;refseq.name2=PIK3C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V856G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=44;refseq.start=37901393;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr18 38577495 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=528;Dels=0.00;HRun=3;HaplotypeScore=10.05;MQ=98.73;MQ0=0;OQ=8594.60;QD=16.28;RankSumP=0.425885;SB=-2472.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.615C>A;refseq.codonCoord=205;refseq.end=38577495;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_002930;refseq.name2=RIT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L205L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=189;refseq.start=38577495;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr18 40535776 . G A 48 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=60;Dels=0.00;HRun=3;HaplotypeScore=5.78;MQ=98.70;MQ0=0;OQ=236.37;QD=3.94;RankSumP=0.000931503;SB=38.16;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.467G>A;refseq.codingCoordStr_2=c.467G>A;refseq.codonCoord_1=156;refseq.codonCoord_2=156;refseq.end_1=40535776;refseq.end_2=40535776;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=763;refseq.name2_1=SETBP1;refseq.name2_2=SETBP1;refseq.name_1=NM_001130110;refseq.name_2=NM_015559;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R156K;refseq.proteinCoordStr_2=p.R156K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=40535776;refseq.start_2=40535776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr18 40783994 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=3;HaplotypeScore=1.57;MQ=98.88;MQ0=0;OQ=2083.01;QD=16.80;RankSumP=0.436912;SB=-785.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.691G>C;refseq.codonCoord=231;refseq.end=40783994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_015559;refseq.name2=SETBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V231L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=151;refseq.start=40783994;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr18 40786847 . T C 22 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=8.90923e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3544T>C;refseq.codonCoord=1182;refseq.end=40786847;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3840;refseq.name=NM_015559;refseq.name2=SETBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1182P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-457;refseq.start=40786847;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr18 40786921 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=99.00;MQ0=0;OQ=1026.63;QD=14.06;RankSumP=0.110333;SB=-248.50;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3618T>C;refseq.codonCoord=1206;refseq.end=40786921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3914;refseq.name=NM_015559;refseq.name2=SETBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1206H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-383;refseq.start=40786921;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr18 40787128 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=194;Dels=0.00;HRun=1;HaplotypeScore=39.34;MQ=96.95;MQ0=0;OQ=2253.42;QD=11.62;RankSumP=0.264451;SB=-463.10;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3825A>G;refseq.codonCoord=1275;refseq.end=40787128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4121;refseq.name=NM_015559;refseq.name2=SETBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1275S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-176;refseq.start=40787128;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr18 41460983 . A G 423.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.50;MQ0=0;OQ=7472.31;QD=36.81;RankSumP=1.00000;SB=-2307.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.394A>G;refseq.codonCoord=132;refseq.end=41460983;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1210;refseq.name=NM_007163;refseq.name2=SLC14A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I132V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=63;refseq.start=41460983;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr18 41500154 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=15.47;MQ=98.93;MQ0=0;OQ=7977.34;QD=18.30;RankSumP=0.488039;SB=-3328.35;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1529G>A;refseq.codonCoord=510;refseq.end=41500154;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2345;refseq.name=NM_007163;refseq.name2=SLC14A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R510Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-29;refseq.start=41500154;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr18 41500999 . C G 260.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.95;MQ0=0;OQ=2525.60;QD=19.89;RankSumP=0.368026;SB=-888.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1659C>G;refseq.codonCoord=553;refseq.end=41500999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2475;refseq.name=NM_007163;refseq.name2=SLC14A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V553V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-59;refseq.start=41500999;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr18 41502350 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1946T>G;refseq.codonCoord=649;refseq.end=41502350;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2762;refseq.name=NM_007163;refseq.name2=SLC14A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V649G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=39;refseq.start=41502350;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr18 41506881 . G A 158.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=484;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.88;MQ0=0;OQ=10682.25;QD=22.07;RankSumP=0.226469;SB=-4273.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2248G>A;refseq.codonCoord=750;refseq.end=41506881;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3064;refseq.name=NM_007163;refseq.name2=SLC14A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V750I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=19;refseq.start=41506881;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr18 41568267 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.540C>A;refseq.codingCoordStr_2=c.372C>A;refseq.codingCoordStr_3=c.540C>A;refseq.codingCoordStr_4=c.372C>A;refseq.codonCoord_1=180;refseq.codonCoord_2=124;refseq.codonCoord_3=180;refseq.codonCoord_4=124;refseq.end_1=41568267;refseq.end_2=41568267;refseq.end_3=41568267;refseq.end_4=41568267;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=691;refseq.mrnaCoord_3=859;refseq.mrnaCoord_4=604;refseq.name2_1=SLC14A1;refseq.name2_2=SLC14A1;refseq.name2_3=SLC14A1;refseq.name2_4=SLC14A1;refseq.name_1=NM_001128588;refseq.name_2=NM_001146036;refseq.name_3=NM_001146037;refseq.name_4=NM_015865;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y180*;refseq.proteinCoordStr_2=p.Y124*;refseq.proteinCoordStr_3=p.Y180*;refseq.proteinCoordStr_4=p.Y124*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=41568267;refseq.start_2=41568267;refseq.start_3=41568267;refseq.start_4=41568267;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;set=FilteredInAll GT 1/0 chr18 41570536 . A G 218.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=385;Dels=0.00;HRun=0;HaplotypeScore=12.46;MQ=98.62;MQ0=0;OQ=13720.05;QD=35.64;RankSumP=1.00000;SB=-5388.09;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.756A>G;refseq.codingCoordStr_2=c.588A>G;refseq.codingCoordStr_3=c.756A>G;refseq.codingCoordStr_4=c.588A>G;refseq.codonCoord_1=252;refseq.codonCoord_2=196;refseq.codonCoord_3=252;refseq.codonCoord_4=196;refseq.end_1=41570536;refseq.end_2=41570536;refseq.end_3=41570536;refseq.end_4=41570536;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=907;refseq.mrnaCoord_3=1075;refseq.mrnaCoord_4=820;refseq.name2_1=SLC14A1;refseq.name2_2=SLC14A1;refseq.name2_3=SLC14A1;refseq.name2_4=SLC14A1;refseq.name_1=NM_001128588;refseq.name_2=NM_001146036;refseq.name_3=NM_001146037;refseq.name_4=NM_015865;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P252P;refseq.proteinCoordStr_2=p.P196P;refseq.proteinCoordStr_3=p.P252P;refseq.proteinCoordStr_4=p.P196P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.spliceDist_4=-76;refseq.start_1=41570536;refseq.start_2=41570536;refseq.start_3=41570536;refseq.start_4=41570536;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chr18 41573272 . G A 157.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=145;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.54;MQ0=0;OQ=2519.62;QD=17.38;RankSumP=0.380495;SB=-542.10;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.978G>A;refseq.codingCoordStr_2=c.810G>A;refseq.codingCoordStr_3=c.978G>A;refseq.codingCoordStr_4=c.810G>A;refseq.codonCoord_1=326;refseq.codonCoord_2=270;refseq.codonCoord_3=326;refseq.codonCoord_4=270;refseq.end_1=41573272;refseq.end_2=41573272;refseq.end_3=41573272;refseq.end_4=41573272;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1129;refseq.mrnaCoord_3=1297;refseq.mrnaCoord_4=1042;refseq.name2_1=SLC14A1;refseq.name2_2=SLC14A1;refseq.name2_3=SLC14A1;refseq.name2_4=SLC14A1;refseq.name_1=NM_001128588;refseq.name_2=NM_001146036;refseq.name_3=NM_001146037;refseq.name_4=NM_015865;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A326A;refseq.proteinCoordStr_2=p.A270A;refseq.proteinCoordStr_3=p.A326A;refseq.proteinCoordStr_4=p.A270A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.start_1=41573272;refseq.start_2=41573272;refseq.start_3=41573272;refseq.start_4=41573272;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr18 41573517 . G A 285.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=5.05;MQ=98.71;MQ0=0;OQ=10618.48;QD=41.64;RankSumP=1.00000;SB=-5275.24;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.1006G>A;refseq.codingCoordStr_2=c.838G>A;refseq.codingCoordStr_3=c.1006G>A;refseq.codingCoordStr_4=c.838G>A;refseq.codonCoord_1=336;refseq.codonCoord_2=280;refseq.codonCoord_3=336;refseq.codonCoord_4=280;refseq.end_1=41573517;refseq.end_2=41573517;refseq.end_3=41573517;refseq.end_4=41573517;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1228;refseq.mrnaCoord_2=1157;refseq.mrnaCoord_3=1325;refseq.mrnaCoord_4=1070;refseq.name2_1=SLC14A1;refseq.name2_2=SLC14A1;refseq.name2_3=SLC14A1;refseq.name2_4=SLC14A1;refseq.name_1=NM_001128588;refseq.name_2=NM_001146036;refseq.name_3=NM_001146037;refseq.name_4=NM_015865;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D336N;refseq.proteinCoordStr_2=p.D280N;refseq.proteinCoordStr_3=p.D336N;refseq.proteinCoordStr_4=p.D280N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=41573517;refseq.start_2=41573517;refseq.start_3=41573517;refseq.start_4=41573517;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 1/1 chr18 41746316 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=5;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3920T>C;refseq.codonCoord=1307;refseq.end=41746316;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4020;refseq.name=NM_020964;refseq.name2=KIAA1632;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1307P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-64;refseq.start=41746316;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr18 41750506 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=207;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.89;MQ0=0;OQ=4198.28;QD=20.28;RankSumP=0.369984;SB=-1182.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3279C>T;refseq.codonCoord=1093;refseq.end=41750506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3379;refseq.name=NM_020964;refseq.name2=KIAA1632;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1093S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=40;refseq.start=41750506;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr18 41751708 . A G 316.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=5.12;MQ=98.77;MQ0=0;OQ=10007.93;QD=41.18;RankSumP=1.00000;SB=-4650.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3173T>C;refseq.codonCoord=1058;refseq.end=41751708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3273;refseq.name=NM_020964;refseq.name2=KIAA1632;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1058A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-67;refseq.start=41751708;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr18 41756340 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3063T>G;refseq.codonCoord=1021;refseq.end=41756340;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3163;refseq.name=NM_020964;refseq.name2=KIAA1632;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1021W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-36;refseq.start=41756340;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr18 41918588 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1460T>G;refseq.codingCoordStr_2=c.1460T>G;refseq.codonCoord_1=487;refseq.codonCoord_2=487;refseq.end_1=41918588;refseq.end_2=41918588;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1605;refseq.mrnaCoord_2=1550;refseq.name2_1=ATP5A1;refseq.name2_2=ATP5A1;refseq.name_1=NM_001001937;refseq.name_2=NM_004046;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V487G;refseq.proteinCoordStr_2=p.V487G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=41918588;refseq.start_2=41918588;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr18 42087698 . A T 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.339516;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.753A>T;refseq.codingCoordStr_2=c.936A>T;refseq.codonCoord_1=251;refseq.codonCoord_2=312;refseq.end_1=42087698;refseq.end_2=42087698;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1315;refseq.name2_1=C18orf25;refseq.name2_2=C18orf25;refseq.name_1=NM_001008239;refseq.name_2=NM_145055;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T251T;refseq.proteinCoordStr_2=p.T312T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=42087698;refseq.start_2=42087698;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=FilteredInAll GT 0/1 chr18 42087699 . T G 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.380465;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.754T>G;refseq.codingCoordStr_2=c.937T>G;refseq.codonCoord_1=252;refseq.codonCoord_2=313;refseq.end_1=42087699;refseq.end_2=42087699;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1133;refseq.mrnaCoord_2=1316;refseq.name2_1=C18orf25;refseq.name2_2=C18orf25;refseq.name_1=NM_001008239;refseq.name_2=NM_145055;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S252A;refseq.proteinCoordStr_2=p.S313A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=42087699;refseq.start_2=42087699;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=soap GT 1/0 chr18 42087703 . G C 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.271853;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.758G>C;refseq.codingCoordStr_2=c.941G>C;refseq.codonCoord_1=253;refseq.codonCoord_2=314;refseq.end_1=42087703;refseq.end_2=42087703;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1137;refseq.mrnaCoord_2=1320;refseq.name2_1=C18orf25;refseq.name2_2=C18orf25;refseq.name_1=NM_001008239;refseq.name_2=NM_145055;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G253A;refseq.proteinCoordStr_2=p.G314A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=42087703;refseq.start_2=42087703;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=soap GT 0/1 chr18 42087704 . C T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.252102;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.759C>T;refseq.codingCoordStr_2=c.942C>T;refseq.codonCoord_1=253;refseq.codonCoord_2=314;refseq.end_1=42087704;refseq.end_2=42087704;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1138;refseq.mrnaCoord_2=1321;refseq.name2_1=C18orf25;refseq.name2_2=C18orf25;refseq.name_1=NM_001008239;refseq.name_2=NM_145055;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G253G;refseq.proteinCoordStr_2=p.G314G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=42087704;refseq.start_2=42087704;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr18 42520180 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.524A>C;refseq.codonCoord=175;refseq.end=42520180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1092;refseq.name=NM_013305;refseq.name2=ST8SIA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N175T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-46;refseq.start=42520180;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 42809083 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.166667;SecondBestBaseQ=15;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_2=c.1129C>T;refseq.codingCoordStr_3=c.1129C>T;refseq.codonCoord_2=377;refseq.codonCoord_3=377;refseq.end_1=42833238;refseq.end_2=42809083;refseq.end_3=42809083;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1129;refseq.mrnaCoord_3=1365;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3CL;refseq.name2_3=TCEB3C;refseq.name_1=NM_031303;refseq.name_2=NM_001100817;refseq.name_3=NM_145653;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R377C;refseq.proteinCoordStr_3=p.R377C;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_2=-513;refseq.spliceDist_3=-513;refseq.start_1=42780895;refseq.start_2=42809083;refseq.start_3=42809083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=FilteredInAll GT 1/0 chr18 42813842 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.83;MQ0=0;OQ=1554.73;QD=13.76;RankSumP=0.242379;SB=-702.26;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.1792C>T;refseq.codonCoord_2=598;refseq.end_1=42833238;refseq.end_2=42813842;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2145;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P598S;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=-902;refseq.start_1=42780895;refseq.start_2=42813842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr18 42814036 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=443;Dels=0.00;HRun=1;HaplotypeScore=13.68;MQ=95.52;MQ0=0;OQ=7852.22;QD=17.73;RankSumP=0.0255483;SB=-2457.85;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.1598G>T;refseq.codonCoord_2=533;refseq.end_1=42833238;refseq.end_2=42814036;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1951;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C533F;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=-1096;refseq.start_1=42780895;refseq.start_2=42814036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr18 42814121 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=454;Dels=0.00;HRun=0;HaplotypeScore=9.06;MQ=92.75;MQ0=3;OQ=8468.37;QD=18.65;RankSumP=0.0539668;SB=-2532.96;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.1513G>A;refseq.codonCoord_2=505;refseq.end_1=42833238;refseq.end_2=42814121;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1866;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G505R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_2=-1181;refseq.start_1=42780895;refseq.start_2=42814121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr18 42814427 . C A 327.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=252;Dels=0.00;HRun=1;HaplotypeScore=3.44;MQ=98.12;MQ0=0;OQ=9797.75;QD=38.88;RankSumP=1.00000;SB=-4107.79;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.1207G>T;refseq.codonCoord_2=403;refseq.end_1=42833238;refseq.end_2=42814427;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1560;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A403S;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-1487;refseq.start_1=42780895;refseq.start_2=42814427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr18 42815098 . C G 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=94.76;MQ0=0;OQ=1489.25;QD=37.23;RankSumP=1.00000;SB=-388.20;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.536G>C;refseq.codonCoord_2=179;refseq.end_1=42833238;refseq.end_2=42815098;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=889;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R179P;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=889;refseq.start_1=42780895;refseq.start_2=42815098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr18 42815175 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=74.72;MQ0=23;OQ=1151.13;QD=8.22;RankSumP=0.435295;SB=-396.85;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.459T>C;refseq.codonCoord_2=153;refseq.end_1=42833238;refseq.end_2=42815175;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=812;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A153A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=812;refseq.start_1=42780895;refseq.start_2=42815175;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr18 42815617 . G C 181.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=6.86;MQ=92.46;MQ0=0;OQ=7407.60;QD=38.78;RankSumP=1.00000;SB=-2253.10;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.17C>G;refseq.codonCoord_2=6;refseq.end_1=42833238;refseq.end_2=42815617;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=370;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T6S;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=370;refseq.start_1=42780895;refseq.start_2=42815617;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr18 42815628 . C T 90.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=6.90;MQ=92.43;MQ0=0;OQ=5327.00;QD=32.28;RankSumP=1.00000;SB=-1260.18;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_2=c.6G>A;refseq.codonCoord_2=2;refseq.end_1=42833238;refseq.end_2=42815628;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=359;refseq.name2_1=KATNAL2;refseq.name2_2=TCEB3B;refseq.name_1=NM_031303;refseq.name_2=NM_016427;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A2A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=359;refseq.start_1=42780895;refseq.start_2=42815628;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr18 42849645 . C T 199.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=432;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=98.83;MQ0=0;OQ=8535.98;QD=19.76;RankSumP=0.468840;SB=-2601.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.666C>T;refseq.codonCoord=222;refseq.end=42849645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=860;refseq.name=NM_031303;refseq.name2=KATNAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G222G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=42849645;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr18 43809827 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=98.22;MQ0=0;OQ=761.02;QD=10.15;RankSumP=0.477750;SB=-144.66;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1662A>G;refseq.codonCoord=554;refseq.end=43809827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_001039360;refseq.name2=ZBTB7C;refseq.positionType=CDS;refseq.proteinCoordStr=p.T554T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=454;refseq.start=43809827;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr18 43820274 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=101;Dels=0.00;HRun=2;HaplotypeScore=6.34;MQ=98.70;MQ0=0;OQ=1141.95;QD=11.31;RankSumP=0.216224;SB=-524.25;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1203C>T;refseq.codonCoord=401;refseq.end=43820274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_001039360;refseq.name2=ZBTB7C;refseq.positionType=CDS;refseq.proteinCoordStr=p.F401F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=43820274;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr18 44538585 . T C 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.54;MQ0=0;OQ=519.68;QD=28.87;RankSumP=1.00000;SB=-134.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.882T>C;refseq.codingCoordStr_2=c.882T>C;refseq.codonCoord_1=294;refseq.codonCoord_2=294;refseq.end_1=44538585;refseq.end_2=44538585;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1241;refseq.mrnaCoord_2=1167;refseq.name2_1=KIAA0427;refseq.name2_2=KIAA0427;refseq.name_1=NM_001142397;refseq.name_2=NM_014772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L294L;refseq.proteinCoordStr_2=p.L294L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-196;refseq.spliceDist_2=-190;refseq.start_1=44538585;refseq.start_2=44538585;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr18 44701750 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00700280;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1271A>C;refseq.codonCoord=424;refseq.end=44701750;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_005904;refseq.name2=SMAD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N424T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=529;refseq.start=44701750;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 45066843 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.905A>C;refseq.codonCoord=302;refseq.end=45066843;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_017653;refseq.name2=DYM;refseq.positionType=CDS;refseq.proteinCoordStr=p.N302T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-42;refseq.start=45066843;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 45272094 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_3=c.-155C>G;refseq.end_1=45272815;refseq.end_2=45272094;refseq.end_3=45272094;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_2=4;refseq.mrnaCoord_3=187;refseq.name2_1=RPL17;refseq.name2_2=SNORD58B;refseq.name2_3=RPL17;refseq.name_1=NM_001035006;refseq.name_2=NR_002572;refseq.name_3=NM_000985;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr5;refseq.spliceDist_2=4;refseq.spliceDist_3=108;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=45271963;refseq.start_2=45272094;refseq.start_3=45272094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=FilteredInAll GT 0/1 chr18 45617915 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=90.92;MQ0=2;OQ=159.49;QD=0.66;SB=98.05;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.5108T>C;refseq.codonCoord=1703;refseq.end=45617915;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5396;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1703A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-31;refseq.start=45617915;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:210,30:224:-86.69,-67.46,-862.40:99 chr18 45617928 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=89.31;MQ0=3;OQ=507.51;QD=2.14;SB=-105.86;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5095T>C;refseq.codonCoord=1699;refseq.end=45617928;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5383;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1699L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-44;refseq.start=45617928;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:198,39:222:-120.88,-66.84,-867.11:99 chr18 45617929 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=89.07;MQ0=3;OQ=765.41;QD=3.23;SB=-287.64;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5094C>G;refseq.codonCoord=1698;refseq.end=45617929;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5382;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1698L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-45;refseq.start=45617929;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:198,39:221:-146.37,-66.55,-950.60:99 chr18 45618007 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=74.61;MQ0=13;OQ=66.03;QD=1.08;SB=29.13;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5016C>T;refseq.codonCoord=1672;refseq.end=45618007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5304;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1672G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-123;refseq.start=45618007;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:51,10:47:-24.04,-14.15,-169.37:98.86 chr18 45709921 . C T 113.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=97.00;MQ0=0;OQ=936.13;QD=12.32;RankSumP=0.0271382;SB=-472.97;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2049G>A;refseq.codonCoord=683;refseq.end=45709921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2337;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V683V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-42;refseq.start=45709921;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr18 45817297 . T C 258.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.75;MQ0=0;OQ=13724.42;QD=40.37;RankSumP=1.00000;SB=-6348.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.376A>G;refseq.codonCoord=126;refseq.end=45817297;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=664;refseq.name=NM_001080467;refseq.name2=MYO5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T126A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=66;refseq.start=45817297;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr18 46057352 . C T 391.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=98.95;MQ0=0;OQ=9866.67;QD=39.78;RankSumP=1.00000;SB=-3466.51;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.codingCoordStr_1=c.240G>A;refseq.codingCoordStr_2=c.240G>A;refseq.codingCoordStr_3=c.240G>A;refseq.codingCoordStr_4=c.240G>A;refseq.codingCoordStr_5=c.240G>A;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.codonCoord_3=80;refseq.codonCoord_4=80;refseq.codonCoord_5=80;refseq.end_1=46057352;refseq.end_2=46057352;refseq.end_3=46057352;refseq.end_4=46057352;refseq.end_5=46057352;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=677;refseq.mrnaCoord_2=677;refseq.mrnaCoord_3=677;refseq.mrnaCoord_4=677;refseq.mrnaCoord_5=677;refseq.name2_1=MBD1;refseq.name2_2=MBD1;refseq.name2_3=MBD1;refseq.name2_4=MBD1;refseq.name2_5=MBD1;refseq.name_1=NM_002384;refseq.name_2=NM_015844;refseq.name_3=NM_015845;refseq.name_4=NM_015846;refseq.name_5=NM_015847;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A80A;refseq.proteinCoordStr_2=p.A80A;refseq.proteinCoordStr_3=p.A80A;refseq.proteinCoordStr_4=p.A80A;refseq.proteinCoordStr_5=p.A80A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.spliceDist_3=15;refseq.spliceDist_4=15;refseq.spliceDist_5=15;refseq.start_1=46057352;refseq.start_2=46057352;refseq.start_3=46057352;refseq.start_4=46057352;refseq.start_5=46057352;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;refseq.variantCodon_5=GCA;set=Intersection GT 1/1 chr18 46064349 . A G 259.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.84;MQ0=0;OQ=1995.47;QD=36.95;RankSumP=1.00000;SB=-907.19;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1338T>C;refseq.codingCoordStr_2=c.1326T>C;refseq.codonCoord_1=446;refseq.codonCoord_2=442;refseq.end_1=46064349;refseq.end_2=46064349;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2071;refseq.mrnaCoord_2=2059;refseq.name2_1=CXXC1;refseq.name2_2=CXXC1;refseq.name_1=NM_001101654;refseq.name_2=NM_014593;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T446T;refseq.proteinCoordStr_2=p.T442T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=46064349;refseq.start_2=46064349;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr18 46162554 . G A 272.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=14.52;MQ=98.84;MQ0=0;OQ=3222.27;QD=16.96;RankSumP=0.337787;SB=-1535.53;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.271G>A;refseq.codingCoordStr_2=c.271G>A;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=46162554;refseq.end_2=46162554;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=500;refseq.mrnaCoord_2=455;refseq.name2_1=SKA1;refseq.name2_2=SKA1;refseq.name_1=NM_001039535;refseq.name_2=NM_145060;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V91I;refseq.proteinCoordStr_2=p.V91I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=46162554;refseq.start_2=46162554;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr18 46444438 . G A 434.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.45;MQ0=0;OQ=5724.53;QD=36.70;RankSumP=1.00000;SB=-1901.42;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.112G>A;refseq.codonCoord=38;refseq.end=46444438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1112;refseq.name=NM_002747;refseq.name2=MAPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V38M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-435;refseq.start=46444438;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr18 46587201 . C G 324.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.53;MQ0=0;OQ=2718.64;QD=20.14;RankSumP=0.370954;SB=-1156.48;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.117G>C;refseq.codingCoordStr_2=c.159G>C;refseq.codingCoordStr_3=c.159G>C;refseq.codingCoordStr_4=c.117G>C;refseq.codonCoord_1=39;refseq.codonCoord_2=53;refseq.codonCoord_3=53;refseq.codonCoord_4=39;refseq.end_1=46587201;refseq.end_2=46587201;refseq.end_3=46587201;refseq.end_4=46587201;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=197;refseq.mrnaCoord_2=308;refseq.mrnaCoord_3=308;refseq.mrnaCoord_4=411;refseq.name2_1=MRO;refseq.name2_2=MRO;refseq.name2_3=MRO;refseq.name2_4=MRO;refseq.name_1=NM_001127174;refseq.name_2=NM_001127175;refseq.name_3=NM_001127176;refseq.name_4=NM_031939;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R39S;refseq.proteinCoordStr_2=p.R53S;refseq.proteinCoordStr_3=p.R53S;refseq.proteinCoordStr_4=p.R39S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.start_1=46587201;refseq.start_2=46587201;refseq.start_3=46587201;refseq.start_4=46587201;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=Intersection GT 1/0 chr18 46838517 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.692G>C;refseq.codonCoord=231;refseq.end=46838517;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_005359;refseq.name2=SMAD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G231A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=25;refseq.start=46838517;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr18 48121222 . T C 424.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.72;MQ0=0;OQ=8959.32;QD=40.72;RankSumP=1.00000;SB=-3139.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.67T>C;refseq.codonCoord=23;refseq.end=48121222;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_005215;refseq.name2=DCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.F23L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-25;refseq.start=48121222;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr18 49190992 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=2;HaplotypeScore=3.33;MQ=98.67;MQ0=0;OQ=10044.44;QD=43.11;RankSumP=1.00000;SB=-2405.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3108T>C;refseq.codonCoord=1036;refseq.end=49190992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3724;refseq.name=NM_005215;refseq.name2=DCC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1036P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-23;refseq.start=49190992;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr18 50416306 . A C 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=40.68;MQ=96.43;MQ0=0;OQ=8590.36;QD=32.91;RankSumP=1.00000;SB=-1795.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.565A>C;refseq.codonCoord=189;refseq.end=50416306;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_173629;refseq.name2=C18orf26;refseq.positionType=CDS;refseq.proteinCoordStr=p.T189P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=265;refseq.start=50416306;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr18 51046529 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=352;Dels=0.00;HRun=1;HaplotypeScore=13.30;MQ=98.88;MQ0=0;OQ=13167.69;QD=37.41;RankSumP=1.00000;SB=-5770.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1941A>G;refseq.codingCoordStr_2=c.1929A>G;refseq.codonCoord_1=647;refseq.codonCoord_2=643;refseq.end_1=51046529;refseq.end_2=51046529;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2553;refseq.mrnaCoord_2=2541;refseq.name2_1=TCF4;refseq.name2_2=TCF4;refseq.name_1=NM_001083962;refseq.name_2=NM_003199;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S647S;refseq.proteinCoordStr_2=p.S643S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=51046529;refseq.start_2=51046529;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr18 52490816 . C G 182.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=7.26;MQ=98.73;MQ0=0;OQ=12926.24;QD=44.12;RankSumP=1.00000;SB=-5746.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.72C>G;refseq.codingCoordStr_2=c.72C>G;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=52490816;refseq.end_2=52490816;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=283;refseq.mrnaCoord_2=283;refseq.name2_1=WDR7;refseq.name2_2=WDR7;refseq.name_1=NM_015285;refseq.name_2=NM_052834;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A24A;refseq.proteinCoordStr_2=p.A24A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=52490816;refseq.start_2=52490816;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr18 52513369 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1299A>C;refseq.codingCoordStr_2=c.1299A>C;refseq.codonCoord_1=433;refseq.codonCoord_2=433;refseq.end_1=52513369;refseq.end_2=52513369;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1510;refseq.mrnaCoord_2=1510;refseq.name2_1=WDR7;refseq.name2_2=WDR7;refseq.name_1=NM_015285;refseq.name_2=NM_052834;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V433V;refseq.proteinCoordStr_2=p.V433V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=52513369;refseq.start_2=52513369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chr18 52599776 . G A 228.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=98.87;MQ0=0;OQ=2726.26;QD=14.50;RankSumP=0.460561;SB=-753.12;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.3081G>A;refseq.codingCoordStr_2=c.2982G>A;refseq.codonCoord_1=1027;refseq.codonCoord_2=994;refseq.end_1=52599776;refseq.end_2=52599776;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3292;refseq.mrnaCoord_2=3193;refseq.name2_1=WDR7;refseq.name2_2=WDR7;refseq.name_1=NM_015285;refseq.name_2=NM_052834;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1027A;refseq.proteinCoordStr_2=p.A994A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=52599776;refseq.start_2=52599776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr18 53254510 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=46;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=95.77;MQ0=0;OQ=543.17;QD=11.81;RankSumP=0.276608;SB=-150.58;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.564C>T;refseq.codonCoord=188;refseq.end=53254510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_004852;refseq.name2=ONECUT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S188S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=596;refseq.start=53254510;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr18 53255014 . T C 225.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.62;MQ0=0;OQ=4306.08;QD=21.11;RankSumP=0.336665;SB=-1529.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1068T>C;refseq.codonCoord=356;refseq.end=53255014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1100;refseq.name=NM_004852;refseq.name2=ONECUT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F356F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-161;refseq.start=53255014;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr18 53372646 . T C 318.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=8.19;MQ=97.86;MQ0=0;OQ=8244.43;QD=18.44;RankSumP=0.201012;SB=-3018.03;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.921A>G;refseq.codingCoordStr_2=c.939A>G;refseq.codonCoord_1=307;refseq.codonCoord_2=313;refseq.end_1=53372646;refseq.end_2=53372646;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1038;refseq.mrnaCoord_2=1056;refseq.name2_1=FECH;refseq.name2_2=FECH;refseq.name_1=NM_000140;refseq.name_2=NM_001012515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P307P;refseq.proteinCoordStr_2=p.P313P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=53372646;refseq.start_2=53372646;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr18 53377381 . G C 240.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=9.42;MQ=98.92;MQ0=0;OQ=9014.03;QD=23.97;RankSumP=0.453018;SB=-2476.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.798C>G;refseq.codingCoordStr_2=c.816C>G;refseq.codonCoord_1=266;refseq.codonCoord_2=272;refseq.end_1=53377381;refseq.end_2=53377381;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=915;refseq.mrnaCoord_2=933;refseq.name2_1=FECH;refseq.name2_2=FECH;refseq.name_1=NM_000140;refseq.name_2=NM_001012515;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P266P;refseq.proteinCoordStr_2=p.P272P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=53377381;refseq.start_2=53377381;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr18 53468674 . C T 300.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.90;MQ0=0;OQ=12443.15;QD=40.66;RankSumP=1.00000;SB=-5814.27;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3454G>A;refseq.codonCoord=1152;refseq.end=53468674;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3454;refseq.name=NM_005603;refseq.name2=ATP8B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1152T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=54;refseq.start=53468674;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr18 53513530 . T G 249.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.92;MQ0=0;OQ=1375.43;QD=39.30;RankSumP=1.00000;SB=-351.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.811A>C;refseq.codonCoord=271;refseq.end=53513530;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=811;refseq.name=NM_005603;refseq.name2=ATP8B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R271R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=30;refseq.start=53513530;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr18 53515850 . A G 364.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=2318.76;QD=35.67;RankSumP=1.00000;SB=-1001.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.696T>C;refseq.codonCoord=232;refseq.end=53515850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_005603;refseq.name2=ATP8B1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D232D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=53515850;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr18 54300079 . T C 416.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=3559.90;QD=40.92;RankSumP=1.00000;SB=-1300.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.6469A>G;refseq.codonCoord=2157;refseq.end=54300079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6683;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I2157V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=173;refseq.start=54300079;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr18 54347431 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=5;HaplotypeScore=0.48;MQ=98.74;MQ0=0;OQ=9541.69;QD=43.37;RankSumP=1.00000;SB=-3938.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5373G>A;refseq.codonCoord=1791;refseq.end=54347431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5587;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1791K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=20;refseq.start=54347431;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 1/1 chr18 54353398 . T C 231.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=446;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.64;MQ0=0;OQ=17791.28;QD=39.89;RankSumP=1.00000;SB=-8112.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5001A>G;refseq.codonCoord=1667;refseq.end=54353398;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5215;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1667K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-353;refseq.start=54353398;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr18 54353748 . C A 260.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=9.60;MQ=98.76;MQ0=0;OQ=11275.03;QD=39.84;RankSumP=1.00000;SB=-2933.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.4651G>T;refseq.codonCoord=1551;refseq.end=54353748;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4865;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1551S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-703;refseq.start=54353748;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr18 54353962 . A T 301.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.79;MQ0=0;OQ=9411.00;QD=40.39;RankSumP=1.00000;SB=-4622.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4437T>A;refseq.codonCoord=1479;refseq.end=54353962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4651;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1479A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-917;refseq.start=54353962;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr18 54354054 . G A 319.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.43;MQ0=0;OQ=10734.66;QD=40.82;RankSumP=1.00000;SB=-4721.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.4345C>T;refseq.codonCoord=1449;refseq.end=54354054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4559;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1449S;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-1009;refseq.start=54354054;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr18 54354100 . C T 377.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.32;MQ0=0;OQ=8129.73;QD=42.12;RankSumP=1.00000;SB=-3648.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4299G>A;refseq.codonCoord=1433;refseq.end=54354100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4513;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1433G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-1055;refseq.start=54354100;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr18 54354391 . G C 173.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=98.87;MQ0=0;OQ=6618.04;QD=45.96;RankSumP=1.00000;SB=-3004.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.4008C>G;refseq.codonCoord=1336;refseq.end=54354391;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4222;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1336P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1346;refseq.start=54354391;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr18 54354427 . A G 425.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=5269.08;QD=40.22;RankSumP=1.00000;SB=-2588.39;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3972T>C;refseq.codonCoord=1324;refseq.end=54354427;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4186;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1324H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1382;refseq.start=54354427;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr18 54354871 . G T 284.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=307;Dels=0.00;HRun=0;HaplotypeScore=9.48;MQ=98.86;MQ0=0;OQ=11416.66;QD=37.19;RankSumP=1.00000;SB=-4103.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3528C>A;refseq.codonCoord=1176;refseq.end=54354871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3742;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1176P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=1566;refseq.start=54354871;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr18 54354878 . T G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=3;HaplotypeScore=12.69;MQ=98.85;MQ0=0;OQ=11445.94;QD=39.61;RankSumP=1.00000;SB=-3578.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3521A>C;refseq.codonCoord=1174;refseq.end=54354878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3735;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1174P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1559;refseq.start=54354878;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr18 54355230 . A C 355.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=97.94;MQ0=0;OQ=7833.80;QD=40.59;RankSumP=1.00000;SB=-3000.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3169T>G;refseq.codonCoord=1057;refseq.end=54355230;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3383;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1057V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=1207;refseq.start=54355230;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr18 54355372 . T C 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3027A>G;refseq.codonCoord=1009;refseq.end=54355372;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3241;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1009S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1065;refseq.start=54355372;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT 1/1 chr18 54355373 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3026C>A;refseq.codonCoord=1009;refseq.end=54355373;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3240;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1009*;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1064;refseq.start=54355373;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/1 chr18 54355390 . C T 10837.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.13;MQ0=0;QD=42.84;RankSumP=1.00000;SB=-4993.82;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.3009G>A;refseq.codonCoord=1003;refseq.end=54355390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3223;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1003R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1047;refseq.start=54355390;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap-filterIngatk GT 1/1 chr18 54355477 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2922A>C;refseq.codonCoord=974;refseq.end=54355477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3136;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T974T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=960;refseq.start=54355477;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 54355485 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2914A>C;refseq.codonCoord=972;refseq.end=54355485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3128;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T972P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=952;refseq.start=54355485;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr18 54355651 . A T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=158;Dels=0.00;HRun=2;HaplotypeScore=18.98;MQ=98.74;MQ0=0;OQ=5191.94;QD=32.86;RankSumP=1.00000;SB=-2488.15;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2748T>A;refseq.codonCoord=916;refseq.end=54355651;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2962;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N916K;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=786;refseq.start=54355651;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr18 54355727 . G A 315.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=98.85;MQ0=0;OQ=10108.79;QD=40.76;RankSumP=1.00000;SB=-5021.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2672C>T;refseq.codonCoord=891;refseq.end=54355727;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2886;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T891I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=710;refseq.start=54355727;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr18 54355912 . T G 418.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.00;MQ0=0;OQ=7742.98;QD=40.33;RankSumP=1.00000;SB=-2752.10;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2487A>C;refseq.codonCoord=829;refseq.end=54355912;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2701;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K829N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=525;refseq.start=54355912;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr18 54355925 . C G 189.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.11;MQ0=0;OQ=10169.14;QD=48.66;RankSumP=1.00000;SB=-3675.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2474G>C;refseq.codonCoord=825;refseq.end=54355925;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2688;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R825T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=512;refseq.start=54355925;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr18 54355957 . C T 329.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=96.36;MQ0=0;OQ=10500.10;QD=41.34;RankSumP=1.00000;SB=-4610.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2442G>A;refseq.codonCoord=814;refseq.end=54355957;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2656;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T814T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=480;refseq.start=54355957;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr18 54355971 . C T 269.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.17;MQ0=0;OQ=10762.01;QD=42.54;RankSumP=1.00000;SB=-4869.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2428G>A;refseq.codonCoord=810;refseq.end=54355971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2642;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G810S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=466;refseq.start=54355971;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr18 54356242 . A C 193.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=1;HaplotypeScore=8.77;MQ=98.71;MQ0=0;OQ=21544.19;QD=40.12;RankSumP=1.00000;SB=-5789.44;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2157T>G;refseq.codonCoord=719;refseq.end=54356242;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2371;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H719Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=195;refseq.start=54356242;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr18 54430005 . T G 141.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=808.29;QD=15.54;RankSumP=0.483330;SB=-78.97;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.5A>C;refseq.codonCoord=2;refseq.end=54430005;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_052947;refseq.name2=ALPK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K2T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=25;refseq.start=54430005;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr18 54973989 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.437A>G;refseq.codonCoord=146;refseq.end=54973989;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_033280;refseq.name2=SEC11C;refseq.positionType=CDS;refseq.proteinCoordStr=p.E146G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-31;refseq.start=54973989;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr18 55043927 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.48;MQ0=0;OQ=1499.55;QD=13.27;RankSumP=0.207634;SB=-652.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.363T>C;refseq.codingCoordStr_2=c.363T>C;refseq.codingCoordStr_3=c.363T>C;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.end_1=55043927;refseq.end_2=55043927;refseq.end_3=55043927;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=461;refseq.mrnaCoord_2=461;refseq.mrnaCoord_3=461;refseq.name2_1=GRP;refseq.name2_2=GRP;refseq.name2_3=GRP;refseq.name_1=NM_001012512;refseq.name_2=NM_001012513;refseq.name_3=NM_002091;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D121D;refseq.proteinCoordStr_2=p.D121D;refseq.proteinCoordStr_3=p.D121D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-1;refseq.spliceDist_3=-20;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=55043927;refseq.start_2=55043927;refseq.start_3=55043927;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/0 chr18 55173734 . T C 237.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=6.16;MQ=98.39;MQ0=0;OQ=6064.83;QD=21.58;RankSumP=0.0799097;SB=-2135.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.351A>G;refseq.codonCoord=117;refseq.end=55173734;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_005570;refseq.name2=LMAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R117R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-19;refseq.start=55173734;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr18 55177341 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.78;MQ0=0;OQ=2454.92;QD=12.85;RankSumP=0.442902;SB=-1097.92;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.116T>C;refseq.codonCoord=39;refseq.end=55177341;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_005570;refseq.name2=LMAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V39A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-99;refseq.start=55177341;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr18 57317521 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1250.86;QD=12.90;RankSumP=0.0288674;SB=-195.64;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.369C>T;refseq.codonCoord=123;refseq.end=57317521;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_031891;refseq.name2=CDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.D123D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=123;refseq.start=57317521;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr18 57318683 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.629G>C;refseq.codonCoord=210;refseq.end=57318683;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_031891;refseq.name2=CDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.G210A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-33;refseq.start=57318683;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr18 57321284 . C G 192.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.48;MQ0=0;OQ=8643.06;QD=48.83;RankSumP=1.00000;SB=-3444.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.780C>G;refseq.codonCoord=260;refseq.end=57321284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_031891;refseq.name2=CDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.V260V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-50;refseq.start=57321284;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr18 57325739 . C A 315.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=367;Dels=0.00;HRun=0;HaplotypeScore=14.32;MQ=98.74;MQ0=0;OQ=6732.35;QD=18.34;RankSumP=0.295658;SB=-2339.78;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.983C>A;refseq.codonCoord=328;refseq.end=57325739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_031891;refseq.name2=CDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.P328H;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-35;refseq.start=57325739;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr18 57368254 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1712A>C;refseq.codonCoord=571;refseq.end=57368254;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1724;refseq.name=NM_031891;refseq.name2=CDH20;refseq.positionType=CDS;refseq.proteinCoordStr=p.H571P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=64;refseq.start=57368254;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr18 58005751 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.33T>G;refseq.codonCoord=11;refseq.end=58005751;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_020854;refseq.name2=KIAA1468;refseq.positionType=CDS;refseq.proteinCoordStr=p.S11R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=248;refseq.start=58005751;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/0 chr18 58029457 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr=chr18;refseq.codingCoordStr=c.616+2;refseq.end=58029457;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_020854;refseq.name2=KIAA1468;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=58029457;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr18 58087122 . C T 138.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2236.90;QD=16.95;RankSumP=0.252570;SB=-739.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2721C>T;refseq.codonCoord=907;refseq.end=58087122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2936;refseq.name=NM_020854;refseq.name2=KIAA1468;refseq.positionType=CDS;refseq.proteinCoordStr=p.V907V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-40;refseq.start=58087122;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr18 58178221 . C T 385.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=98.28;MQ0=0;OQ=5908.31;QD=41.61;RankSumP=1.00000;SB=-2201.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.575C>T;refseq.codonCoord=192;refseq.end=58178221;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_003839;refseq.name2=TNFRSF11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A192V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-42;refseq.start=58178221;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr18 58187063 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=836;Dels=0.00;HRun=0;HaplotypeScore=6.68;MQ=98.88;MQ0=0;OQ=32045.76;QD=38.33;RankSumP=1.00000;SB=-15248.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.933A>G;refseq.codonCoord=311;refseq.end=58187063;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_003839;refseq.name2=TNFRSF11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T311T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=150;refseq.start=58187063;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr18 59136859 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=3;HaplotypeScore=15.78;MQ=98.64;MQ0=0;OQ=6462.05;QD=17.56;RankSumP=0.237584;SB=-2529.64;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.21A>G;refseq.codingCoordStr_2=c.21A>G;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.end_1=59136859;refseq.end_2=59136859;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=514;refseq.mrnaCoord_2=514;refseq.name2_1=BCL2;refseq.name2_2=BCL2;refseq.name_1=NM_000633;refseq.name_2=NM_000657;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T7T;refseq.proteinCoordStr_2=p.T7T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=307;refseq.spliceDist_2=307;refseq.start_1=59136859;refseq.start_2=59136859;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr18 59173771 . C T 287.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=98.70;MQ0=0;OQ=2642.46;QD=16.94;RankSumP=0.142930;SB=-730.74;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.261G>A;refseq.codonCoord=87;refseq.end=59173771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_002035;refseq.name2=KDSR;refseq.positionType=CDS;refseq.proteinCoordStr=p.V87V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=59173771;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr18 59185314 . G C 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=0.0617548;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.18C>G;refseq.codonCoord=6;refseq.end=59185314;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=173;refseq.name=NM_002035;refseq.name2=KDSR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-91;refseq.start=59185314;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr18 59185315 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.536568;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.17C>G;refseq.codonCoord=6;refseq.end=59185315;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=172;refseq.name=NM_002035;refseq.name2=KDSR;refseq.positionType=CDS;refseq.proteinCoordStr=p.A6G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-92;refseq.start=59185315;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap GT 0/1 chr18 59228547 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=635;Dels=0.00;HRun=2;HaplotypeScore=48.35;MQ=98.35;MQ0=0;OQ=117.45;QD=0.18;RankSumP=0.00000;SB=1028.48;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.252G>A;refseq.codonCoord=84;refseq.end=59228547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_004869;refseq.name2=VPS4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q84Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-45;refseq.start=59228547;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr18 59307586 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=2.25;MQ=98.67;MQ0=0;OQ=11057.78;QD=48.29;RankSumP=1.00000;SB=-4870.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.333G>C;refseq.codonCoord=111;refseq.end=59307586;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_002639;refseq.name2=SERPINB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P111P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=27;refseq.start=59307586;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr18 59311267 . T C 236.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=414;Dels=0.00;HRun=1;HaplotypeScore=8.25;MQ=98.91;MQ0=0;OQ=17200.05;QD=41.55;RankSumP=1.00000;SB=-4739.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.526T>C;refseq.codonCoord=176;refseq.end=59311267;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=668;refseq.name=NM_002639;refseq.name2=SERPINB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S176P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-42;refseq.start=59311267;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr18 59321701 . T C 289.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=319;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=98.56;MQ0=0;OQ=12150.52;QD=38.09;RankSumP=1.00000;SB=-5410.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.894T>C;refseq.codonCoord=298;refseq.end=59321701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_002639;refseq.name2=SERPINB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S298S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=159;refseq.start=59321701;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr18 59321762 . A G 411.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.79;MQ0=0;OQ=7216.22;QD=41.24;RankSumP=1.00000;SB=-3434.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.955A>G;refseq.codonCoord=319;refseq.end=59321762;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_002639;refseq.name2=SERPINB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I319V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=220;refseq.start=59321762;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr18 59321905 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=757;Dels=0.00;HRun=0;HaplotypeScore=33.77;MQ=98.67;MQ0=0;OQ=31893.33;QD=42.13;RankSumP=1.00000;SB=-15741.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1098T>C;refseq.codonCoord=366;refseq.end=59321905;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_002639;refseq.name2=SERPINB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I366I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=363;refseq.start=59321905;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/1 chr18 59415278 . G A 427.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.59;MQ0=0;OQ=5107.01;QD=41.86;RankSumP=1.00000;SB=-2490.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.877G>A;refseq.codonCoord=293;refseq.end=59415278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_012397;refseq.name2=SERPINB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.G293S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=106;refseq.start=59415278;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr18 59415448 . C T 126.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=7.65;MQ=97.28;MQ0=0;OQ=4994.25;QD=30.64;RankSumP=1.00000;SB=-1130.38;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1047C>T;refseq.codonCoord=349;refseq.end=59415448;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_012397;refseq.name2=SERPINB13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=276;refseq.start=59415448;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr18 59476795 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=83;Dels=0.00;HRun=0;HaplotypeScore=13.00;MQ=79.47;MQ0=8;OQ=369.63;QD=4.45;RankSumP=0.367094;SB=32.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.401T>C;refseq.codonCoord=134;refseq.end=59476795;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_006919;refseq.name2=SERPINB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=50;refseq.start=59476795;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr18 59476796 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=79.06;MQ0=8;OQ=400.00;QD=4.76;RankSumP=0.711260;SB=34.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.400G>A;refseq.codonCoord=134;refseq.end=59476796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_006919;refseq.name2=SERPINB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V134I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=49;refseq.start=59476796;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr18 59736272 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.328A>C;refseq.codonCoord=110;refseq.end=59736272;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_005024;refseq.name2=SERPINB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T110P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-45;refseq.start=59736272;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr18 59751364 . C T 184.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=12.14;MQ=98.74;MQ0=0;OQ=18801.42;QD=42.44;RankSumP=1.00000;SB=-7841.55;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.736C>T;refseq.codonCoord=246;refseq.end=59751364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_005024;refseq.name2=SERPINB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R246C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-54;refseq.start=59751364;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr18 59798049 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=443;Dels=0.00;HRun=1;HaplotypeScore=10.50;MQ=98.54;MQ0=0;OQ=9576.25;QD=21.62;RankSumP=0.361086;SB=-3877.56;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_1=c.203G>A;refseq.codingCoordStr_2=c.203G>A;refseq.codingCoordStr_3=c.203G>A;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.end_1=59798049;refseq.end_2=59798049;refseq.end_3=59798049;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=355;refseq.mrnaCoord_3=372;refseq.name2_1=SERPINB8;refseq.name2_2=SERPINB8;refseq.name2_3=SERPINB8;refseq.name_1=NM_001031848;refseq.name_2=NM_002640;refseq.name_3=NM_198833;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R68Q;refseq.proteinCoordStr_2=p.R68Q;refseq.proteinCoordStr_3=p.R68Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=59798049;refseq.start_2=59798049;refseq.start_3=59798049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/0 chr18 59805443 . A G 300.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.14;MQ0=0;OQ=10895.20;QD=37.06;RankSumP=1.00000;SB=-4104.98;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1076A>G;refseq.codingCoordStr_2=c.1076A>G;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=59805443;refseq.end_2=59805443;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1228;refseq.mrnaCoord_2=1245;refseq.name2_1=SERPINB8;refseq.name2_2=SERPINB8;refseq.name_1=NM_002640;refseq.name_2=NM_198833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H359R;refseq.proteinCoordStr_2=p.H359R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=356;refseq.spliceDist_2=356;refseq.start_1=59805443;refseq.start_2=59805443;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr18 59805478 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1111T>G;refseq.codingCoordStr_2=c.1111T>G;refseq.codonCoord_1=371;refseq.codonCoord_2=371;refseq.end_1=59805478;refseq.end_2=59805478;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1263;refseq.mrnaCoord_2=1280;refseq.name2_1=SERPINB8;refseq.name2_2=SERPINB8;refseq.name_1=NM_002640;refseq.name_2=NM_198833;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F371V;refseq.proteinCoordStr_2=p.F371V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=391;refseq.spliceDist_2=391;refseq.start_1=59805478;refseq.start_2=59805478;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chr18 61640358 . C T 246.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=98.89;MQ0=0;OQ=11158.18;QD=41.33;RankSumP=1.00000;SB=-5520.54;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.687C>T;refseq.codingCoordStr_2=c.687C>T;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.end_1=61640358;refseq.end_2=61640358;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1012;refseq.name2_1=CDH7;refseq.name2_2=CDH7;refseq.name_1=NM_004361;refseq.name_2=NM_033646;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V229V;refseq.proteinCoordStr_2=p.V229V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=61640358;refseq.start_2=61640358;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr18 61662156 . T C 256.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=98.69;MQ0=0;OQ=7403.01;QD=17.97;RankSumP=0.242769;SB=-2866.59;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1110T>C;refseq.codingCoordStr_2=c.1110T>C;refseq.codonCoord_1=370;refseq.codonCoord_2=370;refseq.end_1=61662156;refseq.end_2=61662156;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1536;refseq.mrnaCoord_2=1435;refseq.name2_1=CDH7;refseq.name2_2=CDH7;refseq.name_1=NM_004361;refseq.name_2=NM_033646;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D370D;refseq.proteinCoordStr_2=p.D370D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.start_1=61662156;refseq.start_2=61662156;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr18 61680996 . A G 140.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=98.67;MQ0=0;OQ=2293.36;QD=12.74;RankSumP=0.188338;SB=-859.50;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1727A>G;refseq.codingCoordStr_2=c.1727A>G;refseq.codonCoord_1=576;refseq.codonCoord_2=576;refseq.end_1=61680996;refseq.end_2=61680996;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2153;refseq.mrnaCoord_2=2052;refseq.name2_1=CDH7;refseq.name2_2=CDH7;refseq.name_1=NM_004361;refseq.name_2=NM_033646;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N576S;refseq.proteinCoordStr_2=p.N576S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=115;refseq.spliceDist_2=115;refseq.start_1=61680996;refseq.start_2=61680996;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr18 62327299 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1741A>C;refseq.codonCoord=581;refseq.end=62327299;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1879;refseq.name=NM_021153;refseq.name2=CDH19;refseq.positionType=CDS;refseq.proteinCoordStr=p.T581P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-88;refseq.start=62327299;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr18 63329487 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=98.48;MQ0=0;OQ=2425.50;QD=19.25;RankSumP=0.0548705;SB=-936.31;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3369A>G;refseq.codonCoord=1123;refseq.end=63329487;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4593;refseq.name=NM_032160;refseq.name2=DSEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1123M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=4223;refseq.start=63329487;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr18 63330809 . G A 279.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.59;MQ0=0;OQ=3137.12;QD=15.45;RankSumP=0.383920;SB=-1531.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2047C>T;refseq.codonCoord=683;refseq.end=63330809;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3271;refseq.name=NM_032160;refseq.name2=DSEL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P683S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=2901;refseq.start=63330809;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr18 64655073 . A C 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=207;Dels=0.00;HRun=2;HaplotypeScore=2.99;MQ=98.87;MQ0=0;OQ=8285.97;QD=40.03;RankSumP=1.00000;SB=-3013.40;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.93A>C;refseq.codingCoordStr_2=c.93A>C;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=64655073;refseq.end_2=64655073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=316;refseq.mrnaCoord_2=210;refseq.name2_1=CCDC102B;refseq.name2_2=CCDC102B;refseq.name_1=NM_001093729;refseq.name_2=NM_024781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A31A;refseq.proteinCoordStr_2=p.A31A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=108;refseq.spliceDist_2=108;refseq.start_1=64655073;refseq.start_2=64655073;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr18 64655439 . A T 460.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.57;MQ0=0;OQ=5586.33;QD=38.79;RankSumP=1.00000;SB=-2025.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.459A>T;refseq.codingCoordStr_2=c.459A>T;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=64655439;refseq.end_2=64655439;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=576;refseq.name2_1=CCDC102B;refseq.name2_2=CCDC102B;refseq.name_1=NM_001093729;refseq.name_2=NM_024781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K153N;refseq.proteinCoordStr_2=p.K153N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-148;refseq.spliceDist_2=-148;refseq.start_1=64655439;refseq.start_2=64655439;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/1 chr18 64664595 . A G 322.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=98.83;MQ0=0;OQ=5109.38;QD=39.61;RankSumP=1.00000;SB=-2520.64;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.893A>G;refseq.codingCoordStr_2=c.893A>G;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.end_1=64664595;refseq.end_2=64664595;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1116;refseq.mrnaCoord_2=1010;refseq.name2_1=CCDC102B;refseq.name2_2=CCDC102B;refseq.name_1=NM_001093729;refseq.name_2=NM_024781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K298R;refseq.proteinCoordStr_2=p.K298R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=64664595;refseq.start_2=64664595;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr18 65496014 . T C 175.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=9.98;MQ=98.97;MQ0=0;OQ=5068.05;QD=19.49;RankSumP=0.226700;SB=-787.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.354T>C;refseq.codonCoord=118;refseq.end=65496014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_152721;refseq.name2=DOK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D118D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-56;refseq.start=65496014;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr18 65516648 . A G 229.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=8.88;MQ=98.81;MQ0=0;OQ=6459.47;QD=14.75;RankSumP=0.488896;SB=-2385.58;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.438A>G;refseq.codonCoord=146;refseq.end=65516648;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_152721;refseq.name2=DOK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T146T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=29;refseq.start=65516648;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr18 65682622 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=569;Dels=0.00;HRun=1;HaplotypeScore=3.69;MQ=98.91;MQ0=0;OQ=11448.73;QD=20.12;RankSumP=0.148908;SB=-4466.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.919A>G;refseq.codonCoord=307;refseq.end=65682622;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1188;refseq.name=NM_006566;refseq.name2=CD226;refseq.positionType=CDS;refseq.proteinCoordStr=p.S307G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=34;refseq.start=65682622;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr18 65691425 . T C 34.47 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=508;Dels=0.00;HRun=3;HaplotypeScore=34.05;MQ=97.78;MQ0=0;QD=0.07;RankSumP=0.00000;SB=576.97;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.765A>G;refseq.codonCoord=255;refseq.end=65691425;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_006566;refseq.name2=CD226;refseq.positionType=CDS;refseq.proteinCoordStr=p.G255G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=38;refseq.start=65691425;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr18 65838840 . T C 212.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=98.94;MQ0=0;OQ=1842.18;QD=15.10;RankSumP=0.393128;SB=-441.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.6144A>G;refseq.codonCoord=2048;refseq.end=65838840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6212;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.V2048V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=65838840;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr18 65869668 . A G 220.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=13.28;MQ=98.91;MQ0=0;OQ=19202.07;QD=40.51;RankSumP=1.00000;SB=-5618.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.5282T>C;refseq.codonCoord=1761;refseq.end=65869668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5350;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1761S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-42;refseq.start=65869668;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr18 65906317 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=323;Dels=0.00;HRun=0;HaplotypeScore=10.79;MQ=98.85;MQ0=0;OQ=5789.63;QD=17.92;RankSumP=0.0349524;SB=-2359.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.4190A>C;refseq.codonCoord=1397;refseq.end=65906317;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4258;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1397A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=47;refseq.start=65906317;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr18 65946595 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.3122A>C;refseq.codonCoord=1041;refseq.end=65946595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3190;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1041T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-22;refseq.start=65946595;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr18 66014830 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.691784;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.728A>G;refseq.codonCoord=243;refseq.end=66014830;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.D243G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=35;refseq.start=66014830;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr18 66022323 . A C 446.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.74;MQ0=0;OQ=5822.46;QD=39.61;RankSumP=1.00000;SB=-1499.17;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.376T>G;refseq.codonCoord=126;refseq.end=66022323;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_173630;refseq.name2=RTTN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S126A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-22;refseq.start=66022323;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr18 66143259 . G A 276.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=97.97;MQ0=0;OQ=1748.19;QD=16.49;RankSumP=0.378923;SB=-765.86;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.375G>A;refseq.codonCoord=125;refseq.end=66143259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_004232;refseq.name2=SOCS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T125T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=501;refseq.start=66143259;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr18 68360301 . C A 24.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=314.99;QD=24.23;RankSumP=0.131868;SB=-78.77;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.75G>T;refseq.codonCoord=25;refseq.end=68360301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=798;refseq.name=NM_182511;refseq.name2=CBLN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P25P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=241;refseq.start=68360301;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr18 68568376 . C T 328.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.43;MQ0=0;OQ=7506.03;QD=41.02;RankSumP=1.00000;SB=-2503.46;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1442G>A;refseq.codingCoordStr_2=c.1439G>A;refseq.codonCoord_1=481;refseq.codonCoord_2=480;refseq.end_1=68568376;refseq.end_2=68568376;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1726;refseq.mrnaCoord_2=1541;refseq.name2_1=NETO1;refseq.name2_2=NETO1;refseq.name_1=NM_138966;refseq.name_2=NM_153181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S481N;refseq.proteinCoordStr_2=p.S480N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-100;refseq.spliceDist_2=-100;refseq.start_1=68568376;refseq.start_2=68568376;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr18 68601931 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.830A>C;refseq.codingCoordStr_2=c.827A>C;refseq.codonCoord_1=277;refseq.codonCoord_2=276;refseq.end_1=68601931;refseq.end_2=68601931;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=929;refseq.name2_1=NETO1;refseq.name2_2=NETO1;refseq.name_1=NM_138966;refseq.name_2=NM_153181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N277T;refseq.proteinCoordStr_2=p.N276T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=68601931;refseq.start_2=68601931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr18 70079130 . C T 274.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=407;Dels=0.00;HRun=0;HaplotypeScore=8.59;MQ=98.80;MQ0=0;OQ=8709.53;QD=21.40;RankSumP=0.394793;SB=-3593.03;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.288G>A;refseq.codingCoordStr_2=c.288G>A;refseq.codonCoord_1=96;refseq.codonCoord_2=96;refseq.end_1=70079130;refseq.end_2=70079130;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=399;refseq.mrnaCoord_2=399;refseq.name2_1=CYB5A;refseq.name2_2=CYB5A;refseq.name_1=NM_001914;refseq.name_2=NM_148923;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P96P;refseq.proteinCoordStr_2=p.P96P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.start_1=70079130;refseq.start_2=70079130;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr18 70110055 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=42.94;MQ=97.52;MQ0=0;OQ=5166.06;QD=14.51;RankSumP=0.00608199;SB=-1218.27;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.36C>T;refseq.codingCoordStr_2=c.36C>T;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=70110055;refseq.end_2=70110055;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=147;refseq.mrnaCoord_2=147;refseq.name2_1=CYB5A;refseq.name2_2=CYB5A;refseq.name_1=NM_001914;refseq.name_2=NM_148923;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y12Y;refseq.proteinCoordStr_2=p.Y12Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.start_1=70110055;refseq.start_2=70110055;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=filterInsoap-gatk GT 1/0 chr18 70254762 . T C 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=97.05;MQ0=0;OQ=222.27;QD=5.70;RankSumP=0.644473;SB=-30.64;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1214A>G;refseq.codonCoord=405;refseq.end=70254762;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1223;refseq.name=NM_001044369;refseq.name2=FAM69C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q405R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=173;refseq.start=70254762;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr18 70374571 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.43G>C;refseq.codonCoord=15;refseq.end=70374571;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_032649;refseq.name2=CNDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=19;refseq.start=70374571;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr18 70379104 . A G 347.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=98.82;MQ0=0;OQ=4273.80;QD=33.65;RankSumP=1.00000;SB=-1549.60;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.337A>G;refseq.codonCoord=113;refseq.end=70379104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=548;refseq.name=NM_032649;refseq.name2=CNDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=34;refseq.start=70379104;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr18 70385615 . C T 423.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=98.86;MQ0=0;OQ=6992.45;QD=39.73;RankSumP=1.00000;SB=-3406.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.723C>T;refseq.codonCoord=241;refseq.end=70385615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_032649;refseq.name2=CNDP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y241Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-34;refseq.start=70385615;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr18 71043268 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=315.05;QD=8.75;RankSumP=0.380075;SB=-38.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.225C>T;refseq.codonCoord=75;refseq.end=71043268;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_175907;refseq.name2=ZADH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N75N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=16;refseq.start=71043268;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr18 72740115 . A G 265.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=8.00;MQ=98.93;MQ0=0;OQ=7085.33;QD=40.96;RankSumP=1.00000;SB=-2935.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1837A>G;refseq.codonCoord=613;refseq.end=72740115;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2035;refseq.name=NM_007345;refseq.name2=ZNF236;refseq.positionType=CDS;refseq.proteinCoordStr=p.I613V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-52;refseq.start=72740115;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr18 72801729 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=95;Dels=0.00;HRun=1;HaplotypeScore=6.63;MQ=98.87;MQ0=0;OQ=1424.45;QD=14.99;RankSumP=0.381408;SB=-289.22;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5343C>T;refseq.codonCoord=1781;refseq.end=72801729;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5541;refseq.name=NM_007345;refseq.name2=ZNF236;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1781A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-71;refseq.start=72801729;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr18 72809247 . C T 238 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=12.64;MQ=97.65;MQ0=0;OQ=13991.13;QD=39.41;RankSumP=1.00000;SB=-6133.84;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.5502C>T;refseq.codonCoord=1834;refseq.end=72809247;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5700;refseq.name=NM_007345;refseq.name2=ZNF236;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1834A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=89;refseq.start=72809247;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr18 73091633 . T C 294.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=98.92;MQ0=0;OQ=2084.89;QD=35.34;RankSumP=1.00000;SB=-47.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.141T>C;refseq.codonCoord=47;refseq.end=73091633;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_001480;refseq.name2=GALR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G47G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-526;refseq.start=73091633;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr18 73109797 . G A 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=170;Dels=0.00;HRun=3;HaplotypeScore=9.74;MQ=98.80;MQ0=0;OQ=7028.24;QD=41.34;RankSumP=1.00000;SB=-3109.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1001G>A;refseq.codonCoord=334;refseq.end=73109797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_001480;refseq.name2=GALR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S334N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=269;refseq.start=73109797;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr18 74854576 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=95.90;MQ0=0;OQ=272.86;QD=10.49;RankSumP=0.0402281;SB=-115.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1597A>G;refseq.codonCoord=533;refseq.end=74854576;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T533A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1515;refseq.start=74854576;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr18 74854756 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=94.26;MQ0=0;OQ=160.37;QD=7.29;RankSumP=0.548580;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.1777C>G;refseq.codonCoord=593;refseq.end=74854756;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1777;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L593V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-1695;refseq.start=74854756;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr18 74855432 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=101;Dels=0.00;HRun=0;HaplotypeScore=23.57;MQ=97.25;MQ0=0;OQ=961.33;QD=9.52;RankSumP=0.0567169;SB=-197.87;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2453C>T;refseq.codonCoord=818;refseq.end=74855432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2453;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P818L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-1019;refseq.start=74855432;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr18 74855454 . C T 142.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=98.26;MQ0=0;OQ=1407.56;QD=15.64;RankSumP=0.277002;SB=-593.05;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2475C>T;refseq.codonCoord=825;refseq.end=74855454;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2475;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y825Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-997;refseq.start=74855454;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr18 74855537 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=398;Dels=0.00;HRun=1;HaplotypeScore=12.68;MQ=98.59;MQ0=0;OQ=6899.21;QD=17.33;RankSumP=0.000512625;SB=-2445.74;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2558T>C;refseq.codonCoord=853;refseq.end=74855537;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2558;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V853A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-914;refseq.start=74855537;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/0 chr18 74855745 rs61747126 G C 1.42 PASS AC=1;AF=0.50;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.72;MQ0=0;OQ=87.95;QD=8.80;SB=-44.89;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.2766G>C;refseq.codonCoord=922;refseq.end=74855745;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2766;refseq.name=NM_171999;refseq.name2=SALL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L922L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-706;refseq.start=74855745;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:6,4:7:-14.19,-2.11,-18.33:99 chr18 74971385 . G A 235.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=7.47;MQ=98.63;MQ0=0;OQ=2966.35;QD=16.66;RankSumP=0.293058;SB=-1371.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.336G>A;refseq.codonCoord=112;refseq.end=74971385;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_198531;refseq.name2=ATP9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E112E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=43;refseq.start=74971385;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr18 75191085 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2021A>G;refseq.codonCoord=674;refseq.end=75191085;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2035;refseq.name=NM_198531;refseq.name2=ATP9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E674G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=75191085;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr18 75197632 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2045G>C;refseq.codonCoord=682;refseq.end=75197632;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2059;refseq.name=NM_198531;refseq.name2=ATP9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R682P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=17;refseq.start=75197632;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr18 75198348 . A T 151.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=98.33;MQ0=0;OQ=1789.06;QD=15.97;RankSumP=0.403079;SB=-582.10;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr18;refseq.codingCoordStr=c.2194A>T;refseq.codonCoord=732;refseq.end=75198348;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2208;refseq.name=NM_198531;refseq.name2=ATP9B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M732L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=82;refseq.start=75198348;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr18 75272049 . T G 139.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.94;MQ0=0;OQ=738.61;QD=23.08;RankSumP=1.00000;SB=-238.40;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.codingCoordStr_2=c.786T>G;refseq.codingCoordStr_3=c.747T>G;refseq.codingCoordStr_4=c.747T>G;refseq.codingCoordStr_5=c.786T>G;refseq.codonCoord_2=262;refseq.codonCoord_3=249;refseq.codonCoord_4=249;refseq.codonCoord_5=262;refseq.end_1=75294556;refseq.end_2=75272049;refseq.end_3=75272049;refseq.end_4=75272049;refseq.end_5=75272049;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1239;refseq.mrnaCoord_3=813;refseq.mrnaCoord_4=813;refseq.mrnaCoord_5=1239;refseq.name2_1=NFATC1;refseq.name2_2=NFATC1;refseq.name2_3=NFATC1;refseq.name2_4=NFATC1;refseq.name2_5=NFATC1;refseq.name_1=NM_172388;refseq.name_2=NM_006162;refseq.name_3=NM_172387;refseq.name_4=NM_172389;refseq.name_5=NM_172390;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.P262P;refseq.proteinCoordStr_3=p.P249P;refseq.proteinCoordStr_4=p.P249P;refseq.proteinCoordStr_5=p.P262P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.spliceDist_2=-441;refseq.spliceDist_3=-441;refseq.spliceDist_4=-441;refseq.spliceDist_5=-441;refseq.start_1=75257350;refseq.start_2=75272049;refseq.start_3=75272049;refseq.start_4=75272049;refseq.start_5=75272049;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;set=Intersection GT 1/1 chr18 75309896 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.codingCoordStr_1=c.1513A>C;refseq.codingCoordStr_2=c.1474A>C;refseq.codingCoordStr_3=c.97A>C;refseq.codingCoordStr_4=c.1474A>C;refseq.codingCoordStr_5=c.1513A>C;refseq.codonCoord_1=505;refseq.codonCoord_2=492;refseq.codonCoord_3=33;refseq.codonCoord_4=492;refseq.codonCoord_5=505;refseq.end_1=75309896;refseq.end_2=75309896;refseq.end_3=75309896;refseq.end_4=75309896;refseq.end_5=75309896;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1966;refseq.mrnaCoord_2=1540;refseq.mrnaCoord_3=867;refseq.mrnaCoord_4=1540;refseq.mrnaCoord_5=1966;refseq.name2_1=NFATC1;refseq.name2_2=NFATC1;refseq.name2_3=NFATC1;refseq.name2_4=NFATC1;refseq.name2_5=NFATC1;refseq.name_1=NM_006162;refseq.name_2=NM_172387;refseq.name_3=NM_172388;refseq.name_4=NM_172389;refseq.name_5=NM_172390;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T505P;refseq.proteinCoordStr_2=p.T492P;refseq.proteinCoordStr_3=p.T33P;refseq.proteinCoordStr_4=p.T492P;refseq.proteinCoordStr_5=p.T505P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.spliceDist_3=-77;refseq.spliceDist_4=-77;refseq.spliceDist_5=-77;refseq.start_1=75309896;refseq.start_2=75309896;refseq.start_3=75309896;refseq.start_4=75309896;refseq.start_5=75309896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 0/1 chr18 75312040 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.chr_5=chr18;refseq.codingCoordStr_1=c.1688T>G;refseq.codingCoordStr_2=c.1649T>G;refseq.codingCoordStr_3=c.272T>G;refseq.codingCoordStr_4=c.1649T>G;refseq.codingCoordStr_5=c.1688T>G;refseq.codonCoord_1=563;refseq.codonCoord_2=550;refseq.codonCoord_3=91;refseq.codonCoord_4=550;refseq.codonCoord_5=563;refseq.end_1=75312040;refseq.end_2=75312040;refseq.end_3=75312040;refseq.end_4=75312040;refseq.end_5=75312040;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2141;refseq.mrnaCoord_2=1715;refseq.mrnaCoord_3=1042;refseq.mrnaCoord_4=1715;refseq.mrnaCoord_5=2141;refseq.name2_1=NFATC1;refseq.name2_2=NFATC1;refseq.name2_3=NFATC1;refseq.name2_4=NFATC1;refseq.name2_5=NFATC1;refseq.name_1=NM_006162;refseq.name_2=NM_172387;refseq.name_3=NM_172388;refseq.name_4=NM_172389;refseq.name_5=NM_172390;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V563G;refseq.proteinCoordStr_2=p.V550G;refseq.proteinCoordStr_3=p.V91G;refseq.proteinCoordStr_4=p.V550G;refseq.proteinCoordStr_5=p.V563G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.spliceDist_3=-75;refseq.spliceDist_4=-75;refseq.spliceDist_5=-75;refseq.start_1=75312040;refseq.start_2=75312040;refseq.start_3=75312040;refseq.start_4=75312040;refseq.start_5=75312040;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr18 75347394 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=14.33;MQ=98.08;MQ0=0;OQ=590.79;QD=7.77;RankSumP=0.473800;SB=-99.87;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.chr_4=chr18;refseq.codingCoordStr_1=c.2251T>G;refseq.codingCoordStr_2=c.2212T>G;refseq.codingCoordStr_3=c.835T>G;refseq.codingCoordStr_4=c.2212T>G;refseq.codonCoord_1=751;refseq.codonCoord_2=738;refseq.codonCoord_3=279;refseq.codonCoord_4=738;refseq.end_1=75347394;refseq.end_2=75347394;refseq.end_3=75347394;refseq.end_4=75347394;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2704;refseq.mrnaCoord_2=2278;refseq.mrnaCoord_3=1605;refseq.mrnaCoord_4=2278;refseq.name2_1=NFATC1;refseq.name2_2=NFATC1;refseq.name2_3=NFATC1;refseq.name2_4=NFATC1;refseq.name_1=NM_006162;refseq.name_2=NM_172387;refseq.name_3=NM_172388;refseq.name_4=NM_172389;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C751G;refseq.proteinCoordStr_2=p.C738G;refseq.proteinCoordStr_3=p.C279G;refseq.proteinCoordStr_4=p.C738G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=159;refseq.spliceDist_2=159;refseq.spliceDist_3=159;refseq.spliceDist_4=159;refseq.start_1=75347394;refseq.start_2=75347394;refseq.start_3=75347394;refseq.start_4=75347394;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=Intersection GT 1/0 chr18 75541116 rs17855830 T G 11.09 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.00;MQ0=0;QD=11.09;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.181T>G;refseq.codingCoordStr_2=c.181T>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=75541116;refseq.end_2=75541116;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=328;refseq.mrnaCoord_2=328;refseq.name2_1=CTDP1;refseq.name2_2=CTDP1;refseq.name_1=NM_004715;refseq.name_2=NM_048368;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S61A;refseq.proteinCoordStr_2=p.S61A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-134;refseq.spliceDist_2=-134;refseq.start_1=75541116;refseq.start_2=75541116;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.36,-0.30,-0.00:1.76 chr18 75574115 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.71;MQ0=0;OQ=1133.85;QD=13.03;RankSumP=0.304223;SB=-160.60;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.1019C>T;refseq.codingCoordStr_2=c.1019C>T;refseq.codonCoord_1=340;refseq.codonCoord_2=340;refseq.end_1=75574115;refseq.end_2=75574115;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1166;refseq.mrnaCoord_2=1166;refseq.name2_1=CTDP1;refseq.name2_2=CTDP1;refseq.name_1=NM_004715;refseq.name_2=NM_048368;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T340M;refseq.proteinCoordStr_2=p.T340M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=75574115;refseq.start_2=75574115;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr18 75614709 . T C 114.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=2604.98;QD=29.60;RankSumP=1.00000;SB=-929.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.2817T>C;refseq.codingCoordStr_2=c.*50T>C;refseq.codonCoord_1=939;refseq.end_1=75614709;refseq.end_2=75614709;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2964;refseq.mrnaCoord_2=2801;refseq.name2_1=CTDP1;refseq.name2_2=CTDP1;refseq.name_1=NM_004715;refseq.name_2=NM_048368;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.D939D;refseq.referenceAA_1=Asp;refseq.referenceCodon_1=GAT;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=75614709;refseq.start_2=75614709;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantCodon_1=GAC;set=Intersection GT 1/1 chr18 75760541 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=161;Dels=0.00;HRun=1;HaplotypeScore=9.25;MQ=97.99;MQ0=0;OQ=2639.63;QD=16.40;RankSumP=0.0310280;SB=-1055.78;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1138C>T;refseq.codonCoord=380;refseq.end=75760541;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1138;refseq.name=NM_012283;refseq.name2=KCNG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L380L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-264;refseq.start=75760541;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr18 75906844 . A C 142.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=7.03;MQ=98.91;MQ0=0;OQ=1917.99;QD=14.75;RankSumP=0.226633;SB=-682.43;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.648A>C;refseq.codingCoordStr_2=c.733A>C;refseq.codonCoord_1=216;refseq.codonCoord_2=245;refseq.end_1=75906844;refseq.end_2=75906844;refseq.frame_1=2;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=798;refseq.mrnaCoord_2=883;refseq.name2_1=C18orf22;refseq.name2_2=C18orf22;refseq.name_1=NM_001171967;refseq.name_2=NM_024805;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S216S;refseq.proteinCoordStr_2=p.N245H;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.start_1=75906844;refseq.start_2=75906844;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=His;refseq.variantCodon_1=TCC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr18 75906937 . A C 251.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.78;MQ0=0;OQ=1161.20;QD=16.83;RankSumP=0.100252;SB=-483.24;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.codingCoordStr_1=c.*12A>C;refseq.codingCoordStr_2=c.826A>C;refseq.codonCoord_2=276;refseq.end_1=75906937;refseq.end_2=75906937;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=891;refseq.mrnaCoord_2=976;refseq.name2_1=C18orf22;refseq.name2_2=C18orf22;refseq.name_1=NM_001171967;refseq.name_2=NM_024805;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K276Q;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=176;refseq.spliceDist_2=176;refseq.start_1=75906937;refseq.start_2=75906937;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr18 75992030 . T A 311.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=13.13;MQ=98.75;MQ0=0;OQ=4886.65;QD=20.71;RankSumP=0.169557;SB=-2017.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.162T>A;refseq.codonCoord=54;refseq.end=75992030;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_014913;refseq.name2=ADNP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G54G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-37;refseq.start=75992030;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr18 75994674 . A G 342.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=98.84;MQ0=0;OQ=7814.38;QD=17.48;RankSumP=0.0834386;SB=-1989.97;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=75994674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_014913;refseq.name2=ADNP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A129A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=189;refseq.start=75994674;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr18 75995835 . G A 339.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=9.23;MQ=98.73;MQ0=0;OQ=8036.81;QD=20.24;RankSumP=0.0147915;SB=-2954.53;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1548G>A;refseq.codonCoord=516;refseq.end=75995835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2003;refseq.name=NM_014913;refseq.name2=ADNP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P516P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1350;refseq.start=75995835;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr18 75996183 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=15.40;MQ=98.25;MQ0=0;OQ=4190.16;QD=15.13;RankSumP=0.327928;SB=-1278.24;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr18;refseq.codingCoordStr=c.1896G>A;refseq.codonCoord=632;refseq.end=75996183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2351;refseq.name=NM_014913;refseq.name2=ADNP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A632A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=1698;refseq.start=75996183;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr18 76019060 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_3=true;refseq.chr_1=chr18;refseq.chr_2=chr18;refseq.chr_3=chr18;refseq.codingCoordStr_3=c.716A>C;refseq.codonCoord_3=239;refseq.end_1=76021379;refseq.end_2=76034743;refseq.end_3=76019060;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=882;refseq.name2_1=LOC100130522;refseq.name2_2=LOC100130522;refseq.name2_3=PARD6G;refseq.name_1=NR_028339;refseq.name_2=NR_028340;refseq.name_3=NM_032510;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.N239T;refseq.referenceAA_3=Asn;refseq.referenceCodon_3=AAC;refseq.spliceDist_3=421;refseq.start_1=76007139;refseq.start_2=76007139;refseq.start_3=76019060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr19 62197 . C A 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.519C>A;refseq.codonCoord=173;refseq.end=62197;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_001005240;refseq.name2=OR4F17;refseq.positionType=CDS;refseq.proteinCoordStr=p.D173E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-400;refseq.start=62197;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/1 chr19 233753 . G A 124.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.93;MQ0=0;OQ=1725.90;QD=14.50;RankSumP=0.402386;SB=-587.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.539C>T;refseq.codingCoordStr_2=c.371C>T;refseq.codingCoordStr_3=c.602C>T;refseq.codonCoord_1=180;refseq.codonCoord_2=124;refseq.codonCoord_3=201;refseq.end_1=233753;refseq.end_2=233753;refseq.end_3=233753;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=597;refseq.mrnaCoord_3=705;refseq.name2_1=PPAP2C;refseq.name2_2=PPAP2C;refseq.name2_3=PPAP2C;refseq.name_1=NM_003712;refseq.name_2=NM_177526;refseq.name_3=NM_177543;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A180V;refseq.proteinCoordStr_2=p.A124V;refseq.proteinCoordStr_3=p.A201V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=233753;refseq.start_2=233753;refseq.start_3=233753;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/0 chr19 318089 . G A 365.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=98.55;MQ0=0;OQ=4363.98;QD=18.97;RankSumP=0.275593;SB=-1658.88;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.889C>T;refseq.codingCoordStr_2=c.817C>T;refseq.codonCoord_1=297;refseq.codonCoord_2=273;refseq.end_1=318089;refseq.end_2=318089;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=928;refseq.mrnaCoord_2=856;refseq.name2_1=THEG;refseq.name2_2=THEG;refseq.name_1=NM_016585;refseq.name_2=NM_199202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H297Y;refseq.proteinCoordStr_2=p.H273Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=318089;refseq.start_2=318089;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr19 318111 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.867A>C;refseq.codingCoordStr_2=c.795A>C;refseq.codonCoord_1=289;refseq.codonCoord_2=265;refseq.end_1=318111;refseq.end_2=318111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=906;refseq.mrnaCoord_2=834;refseq.name2_1=THEG;refseq.name2_2=THEG;refseq.name_1=NM_016585;refseq.name_2=NM_199202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K289N;refseq.proteinCoordStr_2=p.K265N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=318111;refseq.start_2=318111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr19 449524 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=638.34;QD=14.19;RankSumP=0.692526;SB=-293.93;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.366A>G;refseq.codingCoordStr_2=c.366A>G;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=449524;refseq.end_2=449524;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=376;refseq.mrnaCoord_2=376;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130760;refseq.name_2=NM_130762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P122P;refseq.proteinCoordStr_2=p.P122P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=449524;refseq.start_2=449524;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr19 452719 . T C 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=4.31;MQ=87.28;MQ0=1;OQ=440.58;QD=9.37;RankSumP=0.521455;SB=-215.99;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.718T>C;refseq.codonCoord_2=240;refseq.end_1=455734;refseq.end_2=452719;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=728;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S240P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=51;refseq.start_1=449836;refseq.start_2=452719;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr19 452725 . G A 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=86.88;MQ0=1;OQ=295.41;QD=6.29;RankSumP=0.296129;SB=-134.57;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.724G>A;refseq.codonCoord_2=242;refseq.end_1=455734;refseq.end_2=452725;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=734;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D242N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=57;refseq.start_1=449836;refseq.start_2=452725;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr19 452738 rs1063736 C A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=82.35;MQ0=1;OQ=107.80;QD=2.84;SB=8.21;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.737C>A;refseq.codonCoord_2=246;refseq.end_1=455734;refseq.end_2=452738;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=747;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P246Q;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=70;refseq.start_1=449836;refseq.start_2=452738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:30,8:29:-22.80,-8.73,-78.04:99 chr19 452743 rs1140822 T C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=80.88;MQ0=0;OQ=123.29;QD=3.63;SB=9.21;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.742T>C;refseq.codonCoord_2=248;refseq.end_1=455734;refseq.end_2=452743;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=752;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S248P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=75;refseq.start_1=449836;refseq.start_2=452743;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:24,10:26:-23.45,-7.84,-78.21:99 chr19 452786 . C A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=80.09;MQ0=0;OQ=114.22;QD=6.72;SB=-28.34;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.785C>A;refseq.codonCoord_2=262;refseq.end_1=455734;refseq.end_2=452786;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=795;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P262Q;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=118;refseq.start_1=449836;refseq.start_2=452786;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,6:12:-18.32,-3.61,-26.13:99 chr19 452801 . A C 13.30 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=89.51;MQ0=0;QD=0.95;SB=2.03;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.800A>C;refseq.codonCoord_2=267;refseq.end_1=455734;refseq.end_2=452801;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=810;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K267T;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-129;refseq.start_1=449836;refseq.start_2=452801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:11,3:9:-7.30,-2.71,-26.24:45.93 chr19 452900 . C A 159.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=334.36;QD=18.58;RankSumP=0.750000;SB=-75.85;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.899C>A;refseq.codonCoord_2=300;refseq.end_1=455734;refseq.end_2=452900;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=909;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130762;refseq.name_2=NM_130760;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P300H;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-30;refseq.start_1=449836;refseq.start_2=452900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr19 455830 . C G 116.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=6.37;MQ=99.00;MQ0=0;OQ=1030.83;QD=12.42;RankSumP=0.222416;SB=-491.64;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1014C>G;refseq.codingCoordStr_2=c.753C>G;refseq.codonCoord_1=338;refseq.codonCoord_2=251;refseq.end_1=455830;refseq.end_2=455830;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1024;refseq.mrnaCoord_2=763;refseq.name2_1=MADCAM1;refseq.name2_2=MADCAM1;refseq.name_1=NM_130760;refseq.name_2=NM_130762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T338T;refseq.proteinCoordStr_2=p.T251T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=455830;refseq.start_2=455830;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr19 458566 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=2;HRun=0;RankSumP=0.600000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.60C>A;refseq.codonCoord=20;refseq.end=458566;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_033513;refseq.name2=C19orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.S20R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=70;refseq.start=458566;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/0 chr19 470086 . G A 23.31 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=90.75;MQ0=0;QD=1.94;SB=-29.49;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.536G>A;refseq.codonCoord=179;refseq.end=470086;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_033513;refseq.name2=C19orf20;refseq.positionType=CDS;refseq.proteinCoordStr=p.S179N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=198;refseq.start=470086;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:10:-8.62,-3.01,-32.20:56.13 chr19 500678 . A G 122.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1914.73;QD=33.59;RankSumP=1.00000;SB=-607.22;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.661A>G;refseq.codonCoord=221;refseq.end=500678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_005317;refseq.name2=GZMM;refseq.positionType=CDS;refseq.proteinCoordStr=p.R221G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=49;refseq.start=500678;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr19 554625 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=66.66;MQ0=14;OQ=734.74;QD=6.12;RankSumP=0.299764;SB=-273.41;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.714T>C;refseq.codonCoord=238;refseq.end=554625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D238D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=82;refseq.start=554625;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 554634 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=13.31;MQ=64.14;MQ0=32;OQ=996.58;QD=6.69;RankSumP=0.205085;SB=-169.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.723T>C;refseq.codonCoord=241;refseq.end=554634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T241T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=91;refseq.start=554634;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 554769 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=1;HaplotypeScore=15.99;MQ=95.23;MQ0=0;OQ=7956.26;QD=19.89;RankSumP=0.309540;SB=-2745.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.858T>C;refseq.codonCoord=286;refseq.end=554769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y286Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-199;refseq.start=554769;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 554826 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=2;HaplotypeScore=4.55;MQ=95.83;MQ0=0;OQ=6421.35;QD=18.51;RankSumP=0.106570;SB=-2351.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.915C>T;refseq.codonCoord=305;refseq.end=554826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=968;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F305F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-142;refseq.start=554826;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr19 554874 . C T 203.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=96.60;MQ0=0;OQ=4362.89;QD=15.69;RankSumP=0.000224266;SB=-1809.14;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.963C>T;refseq.codonCoord=321;refseq.end=554874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1016;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R321R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-94;refseq.start=554874;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=filterInsoap-gatk GT 0/1 chr19 556093 . G A 142.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.36;MQ0=0;OQ=2568.00;QD=14.93;RankSumP=7.00649e-05;SB=-937.41;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1089G>A;refseq.codonCoord=363;refseq.end=556093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1142;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A363A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=33;refseq.start=556093;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=filterInsoap-gatk GT 1/0 chr19 556171 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=2.92;MQ=96.47;MQ0=0;OQ=3671.59;QD=39.48;RankSumP=1.00000;SB=-869.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1167T>C;refseq.codonCoord=389;refseq.end=556171;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1220;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P389P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-52;refseq.start=556171;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 564307 . C T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=79.00;MQ0=24;OQ=3680.53;QD=30.93;RankSumP=1.00000;SB=-598.35;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1644C>T;refseq.codonCoord=548;refseq.end=564307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1697;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A548A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=60;refseq.start=564307;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr19 564898 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=16;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=9.54;MQ=85.18;MQ0=0;OQ=1465.54;QD=16.85;RankSumP=1.00000;SB=-456.31;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1872T>C;refseq.codonCoord=624;refseq.end=564898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1925;refseq.name=NM_001194;refseq.name2=HCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A624A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=47;refseq.start=564898;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 568466 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.33;MQ0=0;OQ=530.97;QD=16.59;RankSumP=0.500000;SB=-125.77;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3596T>C;refseq.codonCoord=1199;refseq.end=568466;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3652;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1199S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=15;refseq.start=568466;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 570021 . G C 326.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=89.96;MQ0=3;OQ=2604.26;QD=39.46;RankSumP=1.00000;SB=-1070.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3243C>G;refseq.codonCoord=1081;refseq.end=570021;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3299;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1081P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-25;refseq.start=570021;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 572712 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=58.06;MQ0=25;OQ=835.24;QD=16.38;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1986T>C;refseq.codonCoord=662;refseq.end=572712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2042;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A662A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=135;refseq.start=572712;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 573193 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=5.11726e-07;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1807G>T;refseq.codonCoord=603;refseq.end=573193;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1863;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V603F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-45;refseq.start=573193;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr19 573336 . T G 30.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=88.15;MQ0=0;OQ=117.37;QD=23.47;RankSumP=1.00000;SB=-37.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1664A>C;refseq.codonCoord=555;refseq.end=573336;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1720;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.E555A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=38;refseq.start=573336;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/1 chr19 576198 . A G 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=12.69;MQ=89.88;MQ0=3;OQ=3406.29;QD=35.86;RankSumP=1.00000;SB=-783.64;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.879T>C;refseq.codonCoord=293;refseq.end=576198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T293T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=57;refseq.start=576198;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr19 583915 . G A 14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=74.30;MQ0=0;OQ=79.77;QD=7.98;RankSumP=0.133333;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.112C>T;refseq.codonCoord=38;refseq.end=583915;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_005035;refseq.name2=POLRMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.P38S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=24;refseq.start=583915;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 1/0 chr19 599173 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=97.71;MQ0=0;OQ=770.62;QD=10.85;RankSumP=0.179344;SB=-383.79;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.891C>G;refseq.codonCoord=297;refseq.end=599173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_194460;refseq.name2=RNF126;refseq.positionType=CDS;refseq.proteinCoordStr=p.S297S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=105;refseq.start=599173;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 603238 . A G 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=93.57;MQ0=0;OQ=214.39;QD=14.29;RankSumP=0.0946387;SB=-71.88;SecondBestBaseQ=19;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.193T>C;refseq.codonCoord=65;refseq.end=603238;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_194460;refseq.name2=RNF126;refseq.positionType=CDS;refseq.proteinCoordStr=p.L65L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=603238;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 636833 . G T 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=94.91;MQ0=0;OQ=58.80;QD=6.53;RankSumP=0.0952381;SB=-42.92;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.735C>A;refseq.codonCoord=245;refseq.end=636833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_214710;refseq.name2=PRSSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P245P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=90;refseq.start=636833;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 638142 . G A 260.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.39;MQ0=0;OQ=1070.88;QD=33.46;RankSumP=1.00000;SB=-306.68;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.428C>T;refseq.codonCoord=143;refseq.end=638142;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_214710;refseq.name2=PRSSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P143L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=47;refseq.start=638142;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 642909 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=98.45;MQ0=0;OQ=1112.56;QD=10.70;RankSumP=0.133890;SB=-465.88;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.330A>G;refseq.codonCoord=110;refseq.end=642909;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_214710;refseq.name2=PRSSL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T110T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-52;refseq.start=642909;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr19 682144 . A G 119.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=93.19;MQ0=0;OQ=622.73;QD=31.14;RankSumP=1.00000;SB=-225.07;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.319A>G;refseq.codingCoordStr_2=c.319A>G;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=682144;refseq.end_2=682144;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=513;refseq.mrnaCoord_2=513;refseq.name2_1=PALM;refseq.name2_2=PALM;refseq.name_1=NM_001040134;refseq.name_2=NM_002579;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T107A;refseq.proteinCoordStr_2=p.T107A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=682144;refseq.start_2=682144;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr19 697712 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=95.89;MQ0=0;OQ=1090.16;QD=27.95;RankSumP=0.645490;SB=-352.88;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.930C>T;refseq.codingCoordStr_2=c.1062C>T;refseq.codonCoord_1=310;refseq.codonCoord_2=354;refseq.end_1=697712;refseq.end_2=697712;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1124;refseq.mrnaCoord_2=1256;refseq.name2_1=PALM;refseq.name2_2=PALM;refseq.name_1=NM_001040134;refseq.name_2=NM_002579;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A310A;refseq.proteinCoordStr_2=p.A354A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=428;refseq.spliceDist_2=428;refseq.start_1=697712;refseq.start_2=697712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr19 708241 . G A 112.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.09;MQ0=0;OQ=622.60;QD=16.83;RankSumP=0.602234;SB=-273.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.295G>A;refseq.codonCoord=99;refseq.end=708241;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_173481;refseq.name2=C19orf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.A99T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=352;refseq.start=708241;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 755327 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=97.30;MQ0=0;OQ=838.33;QD=11.98;RankSumP=0.188788;SB=-409.71;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.324C>T;refseq.codingCoordStr_3=c.324C>T;refseq.codingCoordStr_4=c.324C>T;refseq.codonCoord_2=108;refseq.codonCoord_3=108;refseq.codonCoord_4=108;refseq.end_1=758858;refseq.end_2=755327;refseq.end_3=755327;refseq.end_4=755327;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=430;refseq.mrnaCoord_3=430;refseq.mrnaCoord_4=430;refseq.name2_1=PTBP1;refseq.name2_2=PTBP1;refseq.name2_3=PTBP1;refseq.name2_4=PTBP1;refseq.name_1=NM_175847;refseq.name_2=NM_002819;refseq.name_3=NM_031990;refseq.name_4=NM_031991;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.N108N;refseq.proteinCoordStr_3=p.N108N;refseq.proteinCoordStr_4=p.N108N;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.start_1=750454;refseq.start_2=755327;refseq.start_3=755327;refseq.start_4=755327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=Intersection GT 0/1 chr19 755612 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=12.43;MQ=96.79;MQ0=0;OQ=643.43;QD=9.19;RankSumP=0.382745;SB=-187.22;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.516C>T;refseq.codingCoordStr_3=c.516C>T;refseq.codingCoordStr_4=c.516C>T;refseq.codonCoord_2=172;refseq.codonCoord_3=172;refseq.codonCoord_4=172;refseq.end_1=758858;refseq.end_2=755612;refseq.end_3=755612;refseq.end_4=755612;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=622;refseq.mrnaCoord_3=622;refseq.mrnaCoord_4=622;refseq.name2_1=PTBP1;refseq.name2_2=PTBP1;refseq.name2_3=PTBP1;refseq.name2_4=PTBP1;refseq.name_1=NM_175847;refseq.name_2=NM_002819;refseq.name_3=NM_031990;refseq.name_4=NM_031991;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D172D;refseq.proteinCoordStr_3=p.D172D;refseq.proteinCoordStr_4=p.D172D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.spliceDist_4=81;refseq.start_1=750454;refseq.start_2=755612;refseq.start_3=755612;refseq.start_4=755612;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 0/1 chr19 764220 . T C 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=68.71;QD=11.45;RankSumP=0.500000;SB=-40.67;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1591A>G;refseq.codonCoord=531;refseq.end=764220;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1655;refseq.name=NM_024888;refseq.name2=LPPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T531A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=676;refseq.start=764220;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr19 780568 . C T 181.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=1196.16;QD=19.29;RankSumP=0.166187;SB=-273.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.222C>T;refseq.codonCoord=74;refseq.end=780568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_001700;refseq.name2=AZU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P74P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=780568;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 781854 . T C 109.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=13.82;MQ=98.73;MQ0=0;OQ=2603.22;QD=13.42;RankSumP=0.147924;SB=-626.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.507T>C;refseq.codonCoord=169;refseq.end=781854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_001700;refseq.name2=AZU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F169F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-88;refseq.start=781854;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 795020 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.18;MQ0=0;OQ=452.01;QD=8.37;RankSumP=0.302967;SB=-180.08;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.355G>A;refseq.codonCoord=119;refseq.end=795020;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=379;refseq.name=NM_002777;refseq.name2=PRTN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V119I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-15;refseq.start=795020;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 806966 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=6.59;MQ=98.72;MQ0=0;OQ=1019.20;QD=11.08;RankSumP=0.464004;SB=-426.05;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.606C>A;refseq.codonCoord=202;refseq.end=806966;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_001972;refseq.name2=ELANE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S202S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=806966;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr19 822222 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=179.60;QD=12.83;RankSumP=0.708916;SB=-78.29;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2130C>T;refseq.codonCoord=710;refseq.end=822222;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2281;refseq.name=NM_005481;refseq.name2=MED16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D710D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=32;refseq.start=822222;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 823089 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=127;Dels=0.00;HRun=1;HaplotypeScore=4.37;MQ=98.11;MQ0=0;OQ=1791.64;QD=14.11;RankSumP=0.421664;SB=-576.98;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1935T>C;refseq.codonCoord=645;refseq.end=823089;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2086;refseq.name=NM_005481;refseq.name2=MED16;refseq.positionType=CDS;refseq.proteinCoordStr=p.F645F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=30;refseq.start=823089;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr19 836818 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=300;Dels=0.00;HRun=3;HaplotypeScore=10.88;MQ=98.56;MQ0=0;OQ=5129.43;QD=17.10;RankSumP=0.0594926;SB=-2128.52;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.831T>C;refseq.codonCoord=277;refseq.end=836818;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_005481;refseq.name2=MED16;refseq.positionType=CDS;refseq.proteinCoordStr=p.F277F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-49;refseq.start=836818;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr19 842102 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.30T>G;refseq.codonCoord=10;refseq.end=842102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_005481;refseq.name2=MED16;refseq.positionType=CDS;refseq.proteinCoordStr=p.G10G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=48;refseq.start=842102;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 850444 . C T 154.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=98.49;MQ0=0;OQ=1934.99;QD=16.97;RankSumP=0.175741;SB=-422.79;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.699G>A;refseq.codonCoord=233;refseq.end=850444;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_138774;refseq.name2=C19orf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.S233S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=850444;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 871642 . T A 118.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=84.46;MQ0=0;OQ=50.88;QD=16.96;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1091T>A;refseq.codonCoord=364;refseq.end=871642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1252;refseq.name=NM_032551;refseq.name2=KISS1R;refseq.positionType=CDS;refseq.proteinCoordStr=p.L364H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=353;refseq.start=871642;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/0 chr19 880678 . G A 6 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=94.85;MQ0=0;OQ=113.63;QD=8.74;RankSumP=0.355556;SB=-47.54;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.150G>A;refseq.codonCoord=50;refseq.end=880678;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E50E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-219;refseq.start=880678;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 1/0 chr19 880690 . G T 16.50 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=94.85;MQ0=0;QD=1.27;SB=-26.87;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.162G>T;refseq.codonCoord=54;refseq.end=880690;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M54I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-207;refseq.start=880690;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:11,2:10:-7.93,-3.01,-32.86:49.24 chr19 880753 . A G 33.48 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=3.50;MQ=97.25;MQ0=0;QD=4.19;RankSumP=0.400000;SB=-6.99;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.225A>G;refseq.codonCoord=75;refseq.end=880753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P75P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-144;refseq.start=880753;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr19 916043 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=98.20;MQ0=0;OQ=3592.08;QD=31.24;RankSumP=1.00000;SB=-1471.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1161T>C;refseq.codonCoord=387;refseq.end=916043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N387N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-38;refseq.start=916043;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr19 917693 . C T 36.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=94.79;MQ0=0;OQ=361.15;QD=27.78;RankSumP=1.00000;SB=-178.68;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1320C>T;refseq.codonCoord=440;refseq.end=917693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A440A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=122;refseq.start=917693;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr19 922933 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=136;Dels=0.01;HRun=2;HaplotypeScore=8.73;MQ=96.77;MQ0=0;OQ=4162.74;QD=30.61;RankSumP=1.00000;SB=-614.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1650A>G;refseq.codonCoord=550;refseq.end=922933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1940;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G550G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=56;refseq.start=922933;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr19 922949 . G A 37.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=96.61;MQ0=0;OQ=1863.95;QD=29.12;RankSumP=1.00000;SB=-123.00;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1666G>A;refseq.codonCoord=556;refseq.end=922949;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1956;refseq.name=NM_005224;refseq.name2=ARID3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G556S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=72;refseq.start=922949;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr19 941281 . G A 362.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.28;MQ0=0;OQ=2052.91;QD=34.80;RankSumP=1.00000;SB=-934.70;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.514G>A;refseq.codonCoord=172;refseq.end=941281;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_024100;refseq.name2=WDR18;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172T;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=59;refseq.start=941281;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 942968 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.30;MQ0=0;OQ=514.83;QD=15.60;RankSumP=0.604008;SB=-6.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.945T>C;refseq.codonCoord=315;refseq.end=942968;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_024100;refseq.name2=WDR18;refseq.positionType=CDS;refseq.proteinCoordStr=p.N315N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=14;refseq.start=942968;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 951799 . G C 13.29 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=71.00;MQ0=0;QD=13.29;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.363G>C;refseq.codonCoord=121;refseq.end=951799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A121A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-64;refseq.start=951799;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 954158 . C T 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.42;MQ0=0;OQ=159.66;QD=7.98;RankSumP=0.633960;SB=-104.57;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.456C>T;refseq.codonCoord=152;refseq.end=954158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A152A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=30;refseq.start=954158;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr19 954221 . C A 47.31 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=98.27;MQ0=0;QD=2.25;RankSumP=0.705020;SB=-36.35;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.519C>A;refseq.codonCoord=173;refseq.end=954221;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=519;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D173E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=93;refseq.start=954221;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr19 954374 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=95.17;MQ0=0;OQ=140.07;QD=12.73;RankSumP=0.0238095;SB=-84.31;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.672G>A;refseq.codonCoord=224;refseq.end=954374;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A224A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=246;refseq.start=954374;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 954439 . G A 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=92.16;MQ0=0;QD=2.02;RankSumP=0.176190;SB=-3.99;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.737G>A;refseq.codonCoord=246;refseq.end=954439;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=737;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R246H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-283;refseq.start=954439;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=soap-filterIngatk GT 1/0 chr19 955687 . T C 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=97.31;MQ0=0;OQ=119.72;QD=6.65;RankSumP=0.437438;SB=-38.93;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1187T>C;refseq.codonCoord=396;refseq.end=955687;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L396S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=168;refseq.start=955687;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr19 955710 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.30;MQ0=0;OQ=721.16;QD=20.60;RankSumP=0.478770;SB=-242.94;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1210C>T;refseq.codonCoord=404;refseq.end=955710;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1210;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.R404W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=191;refseq.start=955710;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr19 955740 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=7.52;MQ=98.52;MQ0=0;OQ=1883.88;QD=30.88;RankSumP=1.00000;SB=-670.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1240T>C;refseq.codonCoord=414;refseq.end=955740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1240;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W414R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=221;refseq.start=955740;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr19 955844 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=3;HaplotypeScore=4.40;MQ=98.16;MQ0=0;OQ=395.26;QD=5.57;RankSumP=0.0961441;SB=-194.92;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1344T>C;refseq.codonCoord=448;refseq.end=955844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P448P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=325;refseq.start=955844;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 955963 . C G 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500039;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1463C>G;refseq.codonCoord=488;refseq.end=955963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1463;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A488G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=444;refseq.start=955963;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr19 956230 . C T 216.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.53;MQ0=0;OQ=2152.08;QD=15.71;RankSumP=0.334772;SB=-806.29;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1730C>T;refseq.codonCoord=577;refseq.end=956230;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1730;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T577M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-323;refseq.start=956230;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 956531 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=99.00;MQ0=0;OQ=1003.40;QD=21.81;RankSumP=0.439744;SB=-50.44;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2031G>C;refseq.codonCoord=677;refseq.end=956531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2031;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L677L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-22;refseq.start=956531;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr19 960485 . C G 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=86.91;MQ0=0;OQ=141.41;QD=28.28;RankSumP=1.00000;SB=-88.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3016C>G;refseq.codonCoord=1006;refseq.end=960485;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3016;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1006E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-239;refseq.start=960485;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/1 chr19 960585 . C G 84.42 BadSOAPSNP;ESPStandard;Indel AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=13;Dels=0.00;HRun=4;HaplotypeScore=0.95;MQ=89.77;MQ0=0;QD=6.49;RankSumP=0.444444;SB=-50.45;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3116C>G;refseq.codonCoord=1039;refseq.end=960585;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3116;refseq.name=NM_138690;refseq.name2=GRIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1039R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-139;refseq.start=960585;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/0 chr19 961406 . G A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.22;MQ0=0;OQ=204.25;QD=12.77;RankSumP=0.750000;SB=-116.96;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1806C>T;refseq.codingCoordStr_2=c.*479C>T;refseq.codonCoord_1=602;refseq.end_1=961406;refseq.end_2=961406;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1952;refseq.mrnaCoord_2=1852;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.G602G;refseq.referenceAA_1=Gly;refseq.referenceCodon_1=GGC;refseq.spliceDist_1=489;refseq.spliceDist_2=489;refseq.start_1=961406;refseq.start_2=961406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGT;set=Intersection GT 1/0 chr19 961691 . A G 9 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=89.78;MQ0=0;OQ=66.71;QD=13.34;RankSumP=1.00000;SB=-44.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1521T>C;refseq.codingCoordStr_2=c.*194T>C;refseq.codonCoord_1=507;refseq.end_1=961691;refseq.end_2=961691;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1567;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P507P;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCT;refseq.spliceDist_1=204;refseq.spliceDist_2=204;refseq.start_1=961691;refseq.start_2=961691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCC;set=filterInsoap-gatk GT 1/1 chr19 962424 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=1;RankSumP=0.312000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1159G>C;refseq.codingCoordStr_2=c.1159G>C;refseq.codonCoord_1=387;refseq.codonCoord_2=387;refseq.end_1=962424;refseq.end_2=962424;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1305;refseq.mrnaCoord_2=1305;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A387P;refseq.proteinCoordStr_2=p.A387P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=962424;refseq.start_2=962424;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr19 963120 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.63;MQ0=0;OQ=480.55;QD=10.92;RankSumP=0.462218;SB=-139.54;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.786C>T;refseq.codingCoordStr_2=c.786C>T;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.end_1=963120;refseq.end_2=963120;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=932;refseq.mrnaCoord_2=932;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y262Y;refseq.proteinCoordStr_2=p.Y262Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.start_1=963120;refseq.start_2=963120;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr19 965377 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.94;MQ0=0;OQ=376.29;QD=6.84;RankSumP=0.347888;SB=-88.95;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.321T>C;refseq.codingCoordStr_2=c.321T>C;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=965377;refseq.end_2=965377;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=467;refseq.mrnaCoord_2=467;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R107R;refseq.proteinCoordStr_2=p.R107R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=965377;refseq.start_2=965377;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr19 965398 . A G 106.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=97.51;MQ0=0;OQ=2687.26;QD=28.29;RankSumP=1.00000;SB=-1096.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.300T>C;refseq.codingCoordStr_2=c.300T>C;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=965398;refseq.end_2=965398;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=446;refseq.mrnaCoord_2=446;refseq.name2_1=C19orf6;refseq.name2_2=C19orf6;refseq.name_1=NM_001033026;refseq.name_2=NM_033420;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H100H;refseq.proteinCoordStr_2=p.H100H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=965398;refseq.start_2=965398;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 987433 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.526G>C;refseq.codingCoordStr_2=c.409G>C;refseq.codonCoord_1=176;refseq.codonCoord_2=137;refseq.end_1=987433;refseq.end_2=987433;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=772;refseq.name2_1=CNN2;refseq.name2_2=CNN2;refseq.name_1=NM_004368;refseq.name_2=NM_201277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A176P;refseq.proteinCoordStr_2=p.A137P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=987433;refseq.start_2=987433;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 987444 . G A 229.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=97.44;MQ0=0;OQ=10946.10;QD=39.66;RankSumP=1.00000;SB=-4708.42;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.537G>A;refseq.codingCoordStr_2=c.420G>A;refseq.codonCoord_1=179;refseq.codonCoord_2=140;refseq.end_1=987444;refseq.end_2=987444;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=900;refseq.mrnaCoord_2=783;refseq.name2_1=CNN2;refseq.name2_2=CNN2;refseq.name_1=NM_004368;refseq.name_2=NM_201277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S179S;refseq.proteinCoordStr_2=p.S140S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=987444;refseq.start_2=987444;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr19 987552 . T C 178.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=11.40;MQ=98.05;MQ0=0;OQ=8276.36;QD=33.11;RankSumP=1.00000;SB=-3670.12;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.645T>C;refseq.codingCoordStr_2=c.528T>C;refseq.codonCoord_1=215;refseq.codonCoord_2=176;refseq.end_1=987552;refseq.end_2=987552;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=891;refseq.name2_1=CNN2;refseq.name2_2=CNN2;refseq.name_1=NM_004368;refseq.name_2=NM_201277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C215C;refseq.proteinCoordStr_2=p.C176C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=987552;refseq.start_2=987552;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr19 992843 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=4.36590e-08;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.174C>A;refseq.codonCoord=58;refseq.end=992843;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=405;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.N58K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=14;refseq.start=992843;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr19 993809 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=120;Dels=0.00;HRun=2;HaplotypeScore=4.51;MQ=97.85;MQ0=0;OQ=1424.53;QD=11.87;RankSumP=0.257247;SB=-713.78;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.563A>G;refseq.codonCoord=188;refseq.end=993809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.E188G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-17;refseq.start=993809;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr19 994103 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=99.00;MQ0=0;OQ=1015.16;QD=19.52;RankSumP=0.480542;SB=-420.90;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.643G>A;refseq.codonCoord=215;refseq.end=994103;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=874;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G215S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=64;refseq.start=994103;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr19 998002 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=97.03;MQ0=0;OQ=220.00;QD=11.00;RankSumP=0.0782004;SB=-57.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1824A>G;refseq.codonCoord=608;refseq.end=998002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2055;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A608A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-22;refseq.start=998002;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 998161 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=98.65;MQ0=0;OQ=747.71;QD=11.50;RankSumP=0.111509;SB=-251.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1851A>G;refseq.codonCoord=617;refseq.end=998161;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2082;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G617G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=998161;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr19 1002214 . A G 174.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=6.38;MQ=98.33;MQ0=0;OQ=1483.66;QD=16.49;RankSumP=0.465854;SB=-736.83;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2745A>G;refseq.codonCoord=915;refseq.end=1002214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2976;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V915V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=61;refseq.start=1002214;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 1004382 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.0581833;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3275T>G;refseq.codonCoord=1092;refseq.end=1004382;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3506;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1092G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=55;refseq.start=1004382;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 1007492 . G C 160.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.59;MQ0=0;OQ=776.02;QD=19.40;RankSumP=0.702986;SB=-132.33;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4580G>C;refseq.codonCoord=1527;refseq.end=1007492;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4811;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1527A;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=1007492;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr19 1015193 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=425.22;QD=10.12;RankSumP=0.176447;SB=-199.83;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.5985G>A;refseq.codonCoord=1995;refseq.end=1015193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6216;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1995L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=34;refseq.start=1015193;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr19 1016018 . G T 49.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.63;MQ0=0;OQ=171.00;QD=21.38;RankSumP=0.506061;SB=-43.94;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.6133G>T;refseq.codonCoord=2045;refseq.end=1016018;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6364;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2045S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=89;refseq.start=1016018;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 1016044 . C T 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.13;MQ0=0;OQ=138.07;QD=12.55;RankSumP=0.728571;SB=-87.31;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.6159C>T;refseq.codonCoord=2053;refseq.end=1016044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6390;refseq.name=NM_019112;refseq.name2=ABCA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2053G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=115;refseq.start=1016044;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 1025000 . A T 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=158.32;QD=9.31;RankSumP=0.281094;SB=-25.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.777A>T;refseq.codonCoord=259;refseq.end=1025000;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_012292;refseq.name2=HMHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E259D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-14;refseq.start=1025000;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 1030959 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=98.25;MQ0=0;OQ=704.44;QD=8.81;RankSumP=0.418507;SB=-352.92;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1545G>A;refseq.codonCoord=515;refseq.end=1030959;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1776;refseq.name=NM_012292;refseq.name2=HMHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M515I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=33;refseq.start=1030959;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr19 1031311 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=405.23;QD=7.95;RankSumP=0.132685;SB=-10.32;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1761G>C;refseq.codonCoord=587;refseq.end=1031311;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1992;refseq.name=NM_012292;refseq.name2=HMHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P587P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=58;refseq.start=1031311;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr19 1032617 . A G 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=98.01;MQ0=0;OQ=202.10;QD=7.49;RankSumP=0.304891;SB=-66.33;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2259A>G;refseq.codonCoord=753;refseq.end=1032617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2490;refseq.name=NM_012292;refseq.name2=HMHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q753Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=69;refseq.start=1032617;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 1036966 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=16.03;MQ=98.00;MQ0=0;OQ=722.22;QD=9.03;RankSumP=0.444505;SB=-37.94;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3372A>G;refseq.codonCoord=1124;refseq.end=1036966;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3603;refseq.name=NM_012292;refseq.name2=HMHA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1124T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=308;refseq.start=1036966;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr19 1040492 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.626T>G;refseq.codonCoord=209;refseq.end=1040492;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_002695;refseq.name2=POLR2E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-22;refseq.start=1040492;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 1045004 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=13.95;MQ=98.84;MQ0=0;OQ=4655.83;QD=32.56;RankSumP=1.00000;SB=-1553.50;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.131C>T;refseq.codonCoord=44;refseq.end=1045004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_002695;refseq.name2=POLR2E;refseq.positionType=CDS;refseq.proteinCoordStr=p.S44F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=74;refseq.start=1045004;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr19 1223040 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=35.97;MQ=97.80;MQ0=0;OQ=11873.62;QD=29.25;RankSumP=1.00000;SB=-2340.26;SecondBestBaseQ=2;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_3=c.492T>C;refseq.codonCoord_3=164;refseq.end_1=1223040;refseq.end_2=1223040;refseq.end_3=1223040;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=534;refseq.mrnaCoord_3=641;refseq.name2_1=CIRBP;refseq.name2_2=CIRBP;refseq.name2_3=CIRBP;refseq.name_1=NR_023312;refseq.name_2=NR_023313;refseq.name_3=NM_001280;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Y164Y;refseq.referenceAA_3=Tyr;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.spliceDist_3=-11;refseq.start_1=1223040;refseq.start_2=1223040;refseq.start_3=1223040;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Tyr;refseq.variantCodon_3=TAC;set=Intersection GT 1/1 chr19 1308082 . T C 278.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.44;MQ0=0;OQ=2888.01;QD=40.68;RankSumP=1.00000;SB=-854.27;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.135T>C;refseq.codonCoord_2=45;refseq.end_1=1308082;refseq.end_2=1308082;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=201;refseq.mrnaCoord_2=245;refseq.name2_1=MUM1;refseq.name2_2=MUM1;refseq.name_1=NR_024247;refseq.name_2=NM_032853;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S45S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=1308082;refseq.start_2=1308082;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr19 1311575 . G A 276.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=5.46;MQ=98.80;MQ0=0;OQ=7212.97;QD=42.18;RankSumP=1.00000;SB=-2163.21;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.658G>A;refseq.codonCoord_2=220;refseq.end_1=1311575;refseq.end_2=1311575;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=837;refseq.mrnaCoord_2=768;refseq.name2_1=MUM1;refseq.name2_2=MUM1;refseq.name_1=NR_024247;refseq.name_2=NM_032853;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G220R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=441;refseq.spliceDist_2=441;refseq.start_1=1311575;refseq.start_2=1311575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr19 1320303 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1465T>G;refseq.codonCoord_2=489;refseq.end_1=1320303;refseq.end_2=1320303;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1644;refseq.mrnaCoord_2=1575;refseq.name2_1=MUM1;refseq.name2_2=MUM1;refseq.name_1=NR_024247;refseq.name_2=NM_032853;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C489G;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=1320303;refseq.start_2=1320303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr19 1321675 . C G 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=55.51;QD=11.10;RankSumP=0.600000;SB=-51.45;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1587C>G;refseq.codonCoord_2=529;refseq.end_1=1321675;refseq.end_2=1321675;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1766;refseq.mrnaCoord_2=1697;refseq.name2_1=MUM1;refseq.name2_2=MUM1;refseq.name_1=NR_024247;refseq.name_2=NM_032853;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V529V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=1321675;refseq.start_2=1321675;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr19 1339538 . C T 108.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=96.36;MQ0=0;OQ=877.49;QD=12.36;RankSumP=0.0347683;SB=-453.40;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.68C>T;refseq.codonCoord=23;refseq.end=1339538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=111;refseq.name=NM_024407;refseq.name2=NDUFS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P23L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=15;refseq.start=1339538;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 1348413 . T G 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.551171;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.656A>C;refseq.codonCoord=219;refseq.end=1348413;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=733;refseq.name=NM_000156;refseq.name2=GAMT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D219A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=86;refseq.start=1348413;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 1404044 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=1404044;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=252;refseq.name=NM_005883;refseq.name2=APC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=62;refseq.start=1404044;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 1404447 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.250A>C;refseq.codonCoord=84;refseq.end=1404447;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_005883;refseq.name2=APC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T84P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=18;refseq.start=1404447;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 1441285 . G A 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=203.91;QD=11.99;RankSumP=0.477545;SB=-6.99;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.61C>T;refseq.codonCoord=21;refseq.end=1441285;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_017573;refseq.name2=PCSK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P21S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=123;refseq.start=1441285;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 1529496 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.719A>G;refseq.codonCoord=240;refseq.end=1529496;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_003926;refseq.name2=MBD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E240G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=42;refseq.start=1529496;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 1570333 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=97.06;MQ0=0;OQ=318.31;QD=15.92;RankSumP=0.650945;SB=-103.60;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1308C>T;refseq.codingCoordStr_2=c.1308C>T;refseq.codonCoord_1=436;refseq.codonCoord_2=436;refseq.end_1=1570333;refseq.end_2=1570333;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1347;refseq.mrnaCoord_2=1375;refseq.name2_1=TCF3;refseq.name2_2=TCF3;refseq.name_1=NM_001136139;refseq.name_2=NM_003200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G436G;refseq.proteinCoordStr_2=p.G436G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=1570333;refseq.start_2=1570333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr19 1570339 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=97.39;MQ0=0;OQ=324.29;QD=13.51;RankSumP=0.0846586;SB=-97.82;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1302A>G;refseq.codingCoordStr_2=c.1302A>G;refseq.codonCoord_1=434;refseq.codonCoord_2=434;refseq.end_1=1570339;refseq.end_2=1570339;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1341;refseq.mrnaCoord_2=1369;refseq.name2_1=TCF3;refseq.name2_2=TCF3;refseq.name_1=NM_001136139;refseq.name_2=NM_003200;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S434S;refseq.proteinCoordStr_2=p.S434S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=1570339;refseq.start_2=1570339;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr19 1767063 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.190476;SecondBestBaseQ=18;refseq.chr=chr19;refseq.codingCoordStr=c.*2G>C;refseq.end=1767063;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=3763;refseq.name=NM_020695;refseq.name2=REXO1;refseq.positionType=utr3;refseq.spliceDist=91;refseq.start=1767063;refseq.transcriptStrand=-;set=FilteredInAll GT 1/0 chr19 1772637 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=4.43;MQ=98.60;MQ0=0;OQ=1632.72;QD=27.21;RankSumP=1.00000;SB=-266.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2275T>C;refseq.codonCoord=759;refseq.end=1772637;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2370;refseq.name=NM_020695;refseq.name2=REXO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S759P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=45;refseq.start=1772637;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 1779148 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=163;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=97.56;MQ0=0;OQ=3880.25;QD=23.81;RankSumP=0.213428;SB=-1498.53;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.640C>T;refseq.codonCoord=214;refseq.end=1779148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_020695;refseq.name2=REXO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R214C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=483;refseq.start=1779148;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr19 1831950 . T C 142.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=97.81;MQ0=0;OQ=1413.49;QD=32.87;RankSumP=1.00000;SB=-422.50;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.430A>G;refseq.codonCoord_2=144;refseq.end_1=1832223;refseq.end_2=1831950;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=836;refseq.name2_1=FAM108A1;refseq.name2_2=FAM108A1;refseq.name_1=NM_001130111;refseq.name_2=NM_031213;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K144E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAG;refseq.spliceDist_2=-56;refseq.start_1=1831125;refseq.start_2=1831950;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 1937520 . G A 210.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=1167.30;QD=15.56;RankSumP=0.481356;SB=-585.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1545C>T;refseq.codonCoord=515;refseq.end=1937520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1545;refseq.name=NM_017797;refseq.name2=BTBD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D515D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=129;refseq.start=1937520;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 1948363 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=98.70;MQ0=0;OQ=2089.70;QD=13.75;RankSumP=0.0455432;SB=-1022.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.507T>C;refseq.codonCoord=169;refseq.end=1948363;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_017797;refseq.name2=BTBD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-21;refseq.start=1948363;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 2029409 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=22.55;MQ=98.02;MQ0=0;OQ=1967.28;QD=8.98;RankSumP=0.390429;SB=-669.42;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.151T>C;refseq.codonCoord=51;refseq.end=2029409;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=469;refseq.name=NM_130807;refseq.name2=MOBKL2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L51L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=270;refseq.start=2029409;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 2029488 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=180;Dels=0.00;HRun=2;HaplotypeScore=8.35;MQ=98.61;MQ0=0;OQ=1933.16;QD=10.74;RankSumP=0.112730;SB=-699.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.72A>G;refseq.codonCoord=24;refseq.end=2029488;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=390;refseq.name=NM_130807;refseq.name2=MOBKL2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P24P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=191;refseq.start=2029488;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 2177219 . C G 27 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.000546615;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3699C>G;refseq.codonCoord=1233;refseq.end=2177219;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3735;refseq.name=NM_032482;refseq.name2=DOT1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1233G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=38;refseq.start=2177219;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 2177676 . G A 68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.97;MQ0=0;OQ=166.62;QD=15.15;RankSumP=0.258333;SB=-79.31;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4156G>A;refseq.codonCoord=1386;refseq.end=2177676;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4192;refseq.name=NM_032482;refseq.name2=DOT1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1386S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-451;refseq.start=2177676;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr19 2177772 . G C 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.76;MQ0=0;OQ=300.42;QD=7.51;RankSumP=0.387473;SB=-111.63;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4252G>C;refseq.codonCoord=1418;refseq.end=2177772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4288;refseq.name=NM_032482;refseq.name2=DOT1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1418L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-355;refseq.start=2177772;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr19 2200477 . G T 355.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=99.00;MQ0=0;OQ=1372.61;QD=36.12;RankSumP=1.00000;SB=-634.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.146G>T;refseq.codonCoord=49;refseq.end=2200477;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_000479;refseq.name2=AMH;refseq.positionType=CDS;refseq.proteinCoordStr=p.S49I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-267;refseq.start=2200477;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr19 2202817 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=97.75;MQ0=0;OQ=2341.51;QD=35.48;RankSumP=1.00000;SB=-462.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1544T>C;refseq.codonCoord=515;refseq.end=2202817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1763;refseq.name=NM_000479;refseq.name2=AMH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V515A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-256;refseq.start=2202817;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 2203990 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=97.93;MQ0=0;OQ=633.99;QD=14.09;RankSumP=0.348291;SB=-206.50;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.449G>C;refseq.codonCoord=150;refseq.end=2203990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_144616;refseq.name2=JSRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G150A;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=13;refseq.start=2203990;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr19 2227301 . G C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.536354;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.800C>G;refseq.codonCoord=267;refseq.end=2227301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=900;refseq.name=NM_198532;refseq.name2=C19orf35;refseq.positionType=CDS;refseq.proteinCoordStr=p.A267G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=188;refseq.start=2227301;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr19 2354113 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.488A>C;refseq.codonCoord=163;refseq.end=2354113;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_182973;refseq.name2=TMPRSS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N163T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=34;refseq.start=2354113;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr19 2372857 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=190;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.19;MQ0=0;OQ=3884.64;QD=20.45;RankSumP=0.0148437;SB=-1302.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2058C>T;refseq.codonCoord=686;refseq.end=2372857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2058;refseq.name=NM_182973;refseq.name2=TMPRSS9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D686D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=2372857;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 2384890 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=8.18;MQ=97.14;MQ0=0;OQ=1457.55;QD=11.13;RankSumP=0.304333;SB=-498.20;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1356T>C;refseq.codonCoord=452;refseq.end=2384890;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_032737;refseq.name2=LMNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G452G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-67;refseq.start=2384890;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr19 2668256 . C G 183.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.24;MQ0=0;OQ=2208.87;QD=20.26;RankSumP=0.355544;SB=-199.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.549G>C;refseq.codonCoord=183;refseq.end=2668256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_145173;refseq.name2=DIRAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G183G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=618;refseq.start=2668256;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 2683986 . T C 178.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.32;MQ0=0;OQ=1690.18;QD=32.50;RankSumP=1.00000;SB=-717.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.708A>G;refseq.codonCoord=236;refseq.end=2683986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_144564;refseq.name2=SLC39A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V236V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-464;refseq.start=2683986;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 2713585 . A C 225.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=98.80;MQ0=0;OQ=2042.57;QD=14.18;RankSumP=0.224991;SB=-1033.95;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.555T>G;refseq.codonCoord=185;refseq.end=2713585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=702;refseq.name=NM_003021;refseq.name2=SGTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A185A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=58;refseq.start=2713585;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 2718192 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.25;MQ0=0;OQ=784.51;QD=14.01;RankSumP=0.125508;SB=-373.21;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.234C>A;refseq.codonCoord=78;refseq.end=2718192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_003021;refseq.name2=SGTA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P78P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=27;refseq.start=2718192;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 2784802 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=310;Dels=0.00;HRun=2;HaplotypeScore=11.52;MQ=98.61;MQ0=0;OQ=5179.74;QD=16.71;RankSumP=0.0724778;SB=-1667.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.569A>G;refseq.codonCoord=190;refseq.end=2784802;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=767;refseq.name=NM_001102651;refseq.name2=ZNF554;refseq.positionType=CDS;refseq.proteinCoordStr=p.E190G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=124;refseq.start=2784802;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr19 2784864 . G A 349.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=98.88;MQ0=0;OQ=6378.84;QD=19.81;RankSumP=0.0839002;SB=-2659.46;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.631G>A;refseq.codonCoord=211;refseq.end=2784864;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=829;refseq.name=NM_001102651;refseq.name2=ZNF554;refseq.positionType=CDS;refseq.proteinCoordStr=p.V211I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=186;refseq.start=2784864;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 2785808 . T C 258.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=12.19;MQ=98.91;MQ0=0;OQ=5206.82;QD=15.22;RankSumP=0.313671;SB=-1942.75;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1575T>C;refseq.codonCoord=525;refseq.end=2785808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1773;refseq.name=NM_001102651;refseq.name2=ZNF554;refseq.positionType=CDS;refseq.proteinCoordStr=p.C525C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1130;refseq.start=2785808;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr19 2804566 . A G 98.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=458;Dels=0.00;HRun=1;HaplotypeScore=8.14;MQ=98.82;MQ0=0;OQ=18678.56;QD=40.78;RankSumP=1.00000;SB=-7608.06;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1500A>G;refseq.codingCoordStr_2=c.1503A>G;refseq.codonCoord_1=500;refseq.codonCoord_2=501;refseq.end_1=2804566;refseq.end_2=2804566;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1638;refseq.mrnaCoord_2=1641;refseq.name2_1=ZNF555;refseq.name2_2=ZNF555;refseq.name_1=NM_001172775;refseq.name_2=NM_152791;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R500R;refseq.proteinCoordStr_2=p.R501R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=1186;refseq.spliceDist_2=1189;refseq.start_1=2804566;refseq.start_2=2804566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr19 2866548 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.32T>G;refseq.codonCoord=11;refseq.end=2866548;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_173480;refseq.name2=ZNF57;refseq.positionType=CDS;refseq.proteinCoordStr=p.V11G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=2866548;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 2868186 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=20.48;MQ=98.75;MQ0=0;OQ=12529.58;QD=32.89;RankSumP=1.00000;SB=-5246.82;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.567T>C;refseq.codonCoord=189;refseq.end=2868186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_173480;refseq.name2=ZNF57;refseq.positionType=CDS;refseq.proteinCoordStr=p.T189T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=265;refseq.start=2868186;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr19 2868287 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=4;HaplotypeScore=1.32;MQ=98.79;MQ0=0;OQ=3132.32;QD=15.90;RankSumP=1.30638e-06;SB=-1146.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.668C>A;refseq.codonCoord=223;refseq.end=2868287;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_173480;refseq.name2=ZNF57;refseq.positionType=CDS;refseq.proteinCoordStr=p.T223N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=366;refseq.start=2868287;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=filterInsoap-gatk GT 1/0 chr19 2868612 . T C 288.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=94.81;MQ0=0;OQ=3699.72;QD=37.75;RankSumP=1.00000;SB=-1277.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.993T>C;refseq.codonCoord=331;refseq.end=2868612;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1141;refseq.name=NM_173480;refseq.name2=ZNF57;refseq.positionType=CDS;refseq.proteinCoordStr=p.T331T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=691;refseq.start=2868612;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr19 2868689 . C T 262.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=77.07;MQ0=0;OQ=5132.97;QD=19.08;RankSumP=0.279301;SB=-1601.34;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1070C>T;refseq.codonCoord=357;refseq.end=2868689;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_173480;refseq.name2=ZNF57;refseq.positionType=CDS;refseq.proteinCoordStr=p.T357M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=768;refseq.start=2868689;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 2885282 . T C 339.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=294;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.96;MQ0=0;OQ=11058.93;QD=37.62;RankSumP=1.00000;SB=-4038.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.843A>G;refseq.codonCoord=281;refseq.end=2885282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_021217;refseq.name2=ZNF77;refseq.positionType=CDS;refseq.proteinCoordStr=p.S281S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=532;refseq.start=2885282;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr19 2887623 . C T 311.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=99.00;MQ0=0;OQ=8502.26;QD=42.72;RankSumP=1.00000;SB=-4201.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.210G>A;refseq.codonCoord=70;refseq.end=2887623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_021217;refseq.name2=ZNF77;refseq.positionType=CDS;refseq.proteinCoordStr=p.E70E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=80;refseq.start=2887623;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 2940298 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.980A>C;refseq.codingCoordStr_2=c.611A>C;refseq.codonCoord_1=327;refseq.codonCoord_2=204;refseq.end_1=2940298;refseq.end_2=2940298;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1089;refseq.mrnaCoord_2=1011;refseq.name2_1=TLE6;refseq.name2_2=TLE6;refseq.name_1=NM_001143986;refseq.name_2=NM_024760;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H327P;refseq.proteinCoordStr_2=p.H204P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=2940298;refseq.start_2=2940298;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 3101238 . A G 169.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.98;MQ0=0;OQ=1305.20;QD=31.83;RankSumP=1.00000;SB=-134.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.440A>G;refseq.codonCoord=147;refseq.end=3101238;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=698;refseq.name=NM_002068;refseq.name2=GNA15;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y147C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-46;refseq.start=3101238;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 3137085 . G T 241.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=94.99;MQ0=0;OQ=1377.20;QD=18.36;RankSumP=0.102971;SB=-443.84;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.57G>T;refseq.codonCoord=19;refseq.end=3137085;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=211;refseq.name=NM_020170;refseq.name2=NCLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P19P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-128;refseq.start=3137085;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 3152527 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.0734266;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.703T>G;refseq.codonCoord=235;refseq.end=3152527;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=857;refseq.name=NM_020170;refseq.name2=NCLN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S235A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=3152527;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr19 3175896 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=102;Dels=0.00;HRun=3;HaplotypeScore=14.30;MQ=97.25;MQ0=0;OQ=1375.08;QD=13.48;RankSumP=0.154052;SB=-278.45;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.159G>C;refseq.codingCoordStr_2=c.159G>C;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=3175896;refseq.end_2=3175896;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=195;refseq.mrnaCoord_2=196;refseq.name2_1=CELF5;refseq.name2_2=CELF5;refseq.name_1=NM_001172673;refseq.name_2=NM_021938;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P53P;refseq.proteinCoordStr_2=p.P53P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-101;refseq.spliceDist_2=-101;refseq.start_1=3175896;refseq.start_2=3175896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr19 3232298 . G A 127.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=14.53;MQ=98.59;MQ0=0;OQ=8788.60;QD=17.58;RankSumP=0.283552;SB=-3704.23;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.705G>A;refseq.codingCoordStr_3=c.705G>A;refseq.codonCoord_2=235;refseq.codonCoord_3=235;refseq.end_1=3232298;refseq.end_2=3232298;refseq.end_3=3232298;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=580;refseq.mrnaCoord_2=741;refseq.mrnaCoord_3=742;refseq.name2_1=CELF5;refseq.name2_2=CELF5;refseq.name2_3=CELF5;refseq.name_1=NR_033342;refseq.name_2=NM_001172673;refseq.name_3=NM_021938;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P235P;refseq.proteinCoordStr_3=p.P235P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.start_1=3232298;refseq.start_2=3232298;refseq.start_3=3232298;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 1/0 chr19 3497264 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=97.04;MQ0=0;OQ=434.59;QD=16.10;RankSumP=0.708188;SB=-146.60;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1183G>A;refseq.codingCoordStr_2=c.1183G>A;refseq.codingCoordStr_3=c.1183G>A;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.codonCoord_3=395;refseq.end_1=3497264;refseq.end_2=3497264;refseq.end_3=3497264;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1353;refseq.mrnaCoord_2=1353;refseq.mrnaCoord_3=1353;refseq.name2_1=C19orf28;refseq.name2_2=C19orf28;refseq.name2_3=C19orf28;refseq.name_1=NM_001042680;refseq.name_2=NM_021731;refseq.name_3=NM_174983;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G395S;refseq.proteinCoordStr_2=p.G395S;refseq.proteinCoordStr_3=p.G395S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.start_1=3497264;refseq.start_2=3497264;refseq.start_3=3497264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 0/1 chr19 3546794 . A G 154.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.86;MQ0=0;OQ=702.16;QD=21.28;RankSumP=0.706132;SB=-256.69;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.924T>C;refseq.codingCoordStr_2=c.924T>C;refseq.codonCoord_1=308;refseq.codonCoord_2=308;refseq.end_1=3546794;refseq.end_2=3546794;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1311;refseq.mrnaCoord_2=1311;refseq.name2_1=TBXA2R;refseq.name2_2=TBXA2R;refseq.name_1=NM_001060;refseq.name_2=NM_201636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y308Y;refseq.proteinCoordStr_2=p.Y308Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=138;refseq.spliceDist_2=-60;refseq.start_1=3546794;refseq.start_2=3546794;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr19 3604525 . C T 307.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=98.68;MQ0=0;OQ=2391.05;QD=18.11;RankSumP=0.152838;SB=-831.28;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.684G>A;refseq.codonCoord=228;refseq.end=3604525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_012398;refseq.name2=PIP5K1C;refseq.positionType=CDS;refseq.proteinCoordStr=p.S228S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=63;refseq.start=3604525;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 3679609 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=605.67;QD=13.77;RankSumP=0.0294840;SB=-21.46;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.113G>A;refseq.codonCoord=38;refseq.end=3679609;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=113;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R38H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=3679609;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr19 3681041 . C T 315.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=2.53;MQ=98.37;MQ0=0;OQ=5319.38;QD=41.24;RankSumP=1.00000;SB=-1484.74;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.231C>T;refseq.codonCoord=77;refseq.end=3681041;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I77I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=16;refseq.start=3681041;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr19 3689649 . A C 130.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1337.14;QD=31.10;RankSumP=1.00000;SB=-207.85;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1480A>C;refseq.codonCoord=494;refseq.end=3689649;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R494R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-13;refseq.start=3689649;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr19 3689971 . A G 271.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2178.86;QD=36.93;RankSumP=1.00000;SB=-1006.07;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1569A>G;refseq.codonCoord=523;refseq.end=3689971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1569;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P523P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=77;refseq.start=3689971;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 3690001 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.73;MQ0=0;OQ=719.70;QD=14.39;RankSumP=0.568781;SB=-267.55;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1599C>T;refseq.codonCoord=533;refseq.end=3690001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1599;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D533D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=107;refseq.start=3690001;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 3691658 . T G 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=99.00;MQ0=0;OQ=167.64;QD=12.90;RankSumP=0.109091;SB=-45.56;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1839T>G;refseq.codonCoord=613;refseq.end=3691658;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1839;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L613L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-104;refseq.start=3691658;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 3697613 . C G 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=10;DP=56;Dels=0.00;HRun=2;HaplotypeScore=14.44;MQ=95.49;MQ0=0;QD=0.22;RankSumP=0.435558;SB=17.08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2240C>G;refseq.codonCoord=747;refseq.end=3697613;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2240;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A747G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-81;refseq.start=3697613;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr19 3701615 . T C 384.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.08;MQ0=0;OQ=2533.72;QD=37.26;RankSumP=1.00000;SB=-1178.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2792T>C;refseq.codonCoord=931;refseq.end=3701615;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2792;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M931T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=36;refseq.start=3701615;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 3701622 . A C 296.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.12;MQ0=0;OQ=2826.02;QD=40.96;RankSumP=1.00000;SB=-1241.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2799A>C;refseq.codonCoord=933;refseq.end=3701622;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2799;refseq.name=NM_014428;refseq.name2=TJP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V933V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=43;refseq.start=3701622;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 3703874 . A G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1834.77;QD=35.28;RankSumP=1.00000;SB=-933.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1126T>C;refseq.codonCoord=376;refseq.end=3703874;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_004886;refseq.name2=APBA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C376R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-57;refseq.start=3703874;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 3704769 . C T 185.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=95.06;MQ0=0;OQ=493.90;QD=32.93;RankSumP=1.00000;SB=-226.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1005G>A;refseq.codonCoord=335;refseq.end=3704769;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1182;refseq.name=NM_004886;refseq.name2=APBA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A335A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=3704769;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 3704874 . G A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=94.05;MQ0=0;OQ=189.60;QD=15.80;RankSumP=0.133838;SB=-86.31;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.900C>T;refseq.codonCoord=300;refseq.end=3704874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1077;refseq.name=NM_004886;refseq.name2=APBA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I300I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=51;refseq.start=3704874;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 3713698 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.18;MQ0=0;OQ=1057.10;QD=14.09;RankSumP=0.0399003;SB=-506.90;SecondBestBaseQ=29;refseq.chr=chr19;refseq.codingCoordStr=c.-1C>T;refseq.end=3713698;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.mrnaCoord=34;refseq.name=NM_172251;refseq.name2=MRPL54;refseq.positionType=utr5;refseq.spliceDist=34;refseq.start=3713698;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr19 3718265 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.69;MQ0=0;OQ=1199.23;QD=14.81;RankSumP=0.189280;SB=-604.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.291C>T;refseq.codonCoord=97;refseq.end=3718265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=325;refseq.name=NM_172251;refseq.name2=MRPL54;refseq.positionType=CDS;refseq.proteinCoordStr=p.F97F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=3718265;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr19 3964322 . T C 379.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=97.92;MQ0=0;OQ=7807.30;QD=36.14;RankSumP=1.00000;SB=-3022.23;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.429T>C;refseq.codonCoord=143;refseq.end=3964322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_015897;refseq.name2=PIAS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D143D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-26;refseq.start=3964322;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr19 3979783 . C T 269.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=8.32;MQ=98.57;MQ0=0;OQ=2507.97;QD=15.39;RankSumP=0.0126747;SB=-1043.41;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.738C>T;refseq.codonCoord=246;refseq.end=3979783;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_015897;refseq.name2=PIAS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T246T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-64;refseq.start=3979783;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr19 3984462 . T C 225.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=99.00;MQ0=0;OQ=1006.47;QD=37.28;RankSumP=1.00000;SB=-86.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1026T>C;refseq.codonCoord=342;refseq.end=3984462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_015897;refseq.name2=PIAS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C342C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=45;refseq.start=3984462;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 4053449 . G A 130.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.96;MQ0=0;OQ=772.11;QD=16.43;RankSumP=0.639128;SB=-398.52;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.453C>T;refseq.codonCoord=151;refseq.end=4053449;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_030662;refseq.name2=MAP2K2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D151D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=4053449;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 4126092 . T G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.501905;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.671A>C;refseq.codonCoord=224;refseq.end=4126092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=731;refseq.name=NM_016539;refseq.name2=SIRT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N224T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=57;refseq.start=4126092;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 4126104 . C T 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=93.84;MQ0=0;OQ=139.04;QD=7.72;RankSumP=0.580716;SB=-78.28;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.659G>A;refseq.codonCoord=220;refseq.end=4126104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_016539;refseq.name2=SIRT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R220Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=45;refseq.start=4126104;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 4131836 . C T 69.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=6.87;MQ=98.57;MQ0=0;OQ=2181.18;QD=28.70;RankSumP=1.00000;SB=-597.35;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.137G>A;refseq.codonCoord=46;refseq.end=4131836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_016539;refseq.name2=SIRT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S46N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-58;refseq.start=4131836;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 4187996 . G A 145.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=92.69;MQ0=0;OQ=1050.71;QD=13.47;RankSumP=0.248557;SB=-428.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.601G>A;refseq.codonCoord=201;refseq.end=4187996;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_005755;refseq.name2=EBI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V201I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=64;refseq.start=4187996;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr19 4188067 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=95.97;MQ0=0;OQ=766.90;QD=8.52;RankSumP=0.168068;SB=-301.98;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.672A>G;refseq.codonCoord=224;refseq.end=4188067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_005755;refseq.name2=EBI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T224T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=135;refseq.start=4188067;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr19 4202069 . T C 202.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1403.13;QD=16.51;RankSumP=0.160404;SB=-509.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.171T>C;refseq.codonCoord=57;refseq.end=4202069;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=204;refseq.name=NM_018074;refseq.name2=CCDC94;refseq.positionType=CDS;refseq.proteinCoordStr=p.N57N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=46;refseq.start=4202069;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 4205375 . C T 299.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=98.82;MQ0=0;OQ=4390.68;QD=15.63;RankSumP=0.0346701;SB=-1641.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.294C>T;refseq.codonCoord=98;refseq.end=4205375;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_018074;refseq.name2=CCDC94;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y98Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=24;refseq.start=4205375;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr19 4231186 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=3.49;MQ=97.85;MQ0=0;OQ=1567.87;QD=17.62;RankSumP=0.424109;SB=-743.70;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.126C>T;refseq.codonCoord=42;refseq.end=4231186;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1589;refseq.name=NM_020209;refseq.name2=SHD;refseq.positionType=CDS;refseq.proteinCoordStr=p.F42F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-172;refseq.start=4231186;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr19 4239332 . A G 401.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=99.00;MQ0=0;OQ=3444.58;QD=40.52;RankSumP=1.00000;SB=-950.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.809A>G;refseq.codonCoord=270;refseq.end=4239332;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2272;refseq.name=NM_020209;refseq.name2=SHD;refseq.positionType=CDS;refseq.proteinCoordStr=p.N270S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-28;refseq.start=4239332;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr19 4243597 . C T 246.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=1.96;MQ=98.74;MQ0=0;OQ=2907.20;QD=18.28;RankSumP=0.491945;SB=-1353.05;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.836G>A;refseq.codingCoordStr_2=c.848G>A;refseq.codonCoord_1=279;refseq.codonCoord_2=283;refseq.end_1=4243597;refseq.end_2=4243597;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=882;refseq.mrnaCoord_2=894;refseq.name2_1=TMIGD2;refseq.name2_2=TMIGD2;refseq.name_1=NM_001169126;refseq.name_2=NM_144615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.*279*;refseq.proteinCoordStr_2=p.*283*;refseq.referenceAA_1=Stop;refseq.referenceAA_2=Stop;refseq.referenceCodon_1=TGA;refseq.referenceCodon_2=TGA;refseq.spliceDist_1=286;refseq.spliceDist_2=286;refseq.start_1=4243597;refseq.start_2=4243597;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=Intersection GT 0/1 chr19 4243841 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=262;Dels=0.00;HRun=4;HaplotypeScore=7.66;MQ=97.79;MQ0=0;OQ=4604.49;QD=17.57;RankSumP=0.129766;SB=-1248.10;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.592G>C;refseq.codingCoordStr_2=c.604G>C;refseq.codonCoord_1=198;refseq.codonCoord_2=202;refseq.end_1=4243841;refseq.end_2=4243841;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=650;refseq.name2_1=TMIGD2;refseq.name2_2=TMIGD2;refseq.name_1=NM_001169126;refseq.name_2=NM_144615;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A198P;refseq.proteinCoordStr_2=p.A202P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=4243841;refseq.start_2=4243841;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr19 4257311 . T C 382.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=97.72;MQ0=0;OQ=3761.17;QD=36.17;RankSumP=1.00000;SB=-1598.57;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=4257311;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_024333;refseq.name2=FSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R76R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-16;refseq.start=4257311;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 4273990 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=76;Dels=0.00;HRun=0;HaplotypeScore=5.40;MQ=97.52;MQ0=0;OQ=1254.39;QD=16.51;RankSumP=0.0158398;SB=-491.53;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1047G>A;refseq.codonCoord=349;refseq.end=4273990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_024333;refseq.name2=FSD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T349T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=4273990;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr19 4276433 . G A 171.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=98.71;MQ0=0;OQ=1991.87;QD=13.93;RankSumP=0.356623;SB=-536.83;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.939C>T;refseq.codingCoordStr_2=c.939C>T;refseq.codonCoord_1=313;refseq.codonCoord_2=313;refseq.end_1=4276433;refseq.end_2=4276433;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1036;refseq.mrnaCoord_2=1036;refseq.name2_1=STAP2;refseq.name2_2=STAP2;refseq.name_1=NM_001013841;refseq.name_2=NM_017720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P313P;refseq.proteinCoordStr_2=p.P313P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=4276433;refseq.start_2=4276433;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr19 4276517 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.08535e-06;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.855C>A;refseq.codingCoordStr_2=c.855C>A;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=4276517;refseq.end_2=4276517;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=952;refseq.mrnaCoord_2=952;refseq.name2_1=STAP2;refseq.name2_2=STAP2;refseq.name_1=NM_001013841;refseq.name_2=NM_017720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P285P;refseq.proteinCoordStr_2=p.P285P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=4276517;refseq.start_2=4276517;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr19 4278319 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.654A>C;refseq.codingCoordStr_2=c.654A>C;refseq.codonCoord_1=218;refseq.codonCoord_2=218;refseq.end_1=4278319;refseq.end_2=4278319;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=751;refseq.mrnaCoord_2=751;refseq.name2_1=STAP2;refseq.name2_2=STAP2;refseq.name_1=NM_001013841;refseq.name_2=NM_017720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E218D;refseq.proteinCoordStr_2=p.E218D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=4278319;refseq.start_2=4278319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr19 4284711 . C T 134.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=1664.37;QD=19.35;RankSumP=0.452854;SB=-690.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.277G>A;refseq.codingCoordStr_2=c.277G>A;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=4284711;refseq.end_2=4284711;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=374;refseq.mrnaCoord_2=374;refseq.name2_1=STAP2;refseq.name2_2=STAP2;refseq.name_1=NM_001013841;refseq.name_2=NM_017720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D93N;refseq.proteinCoordStr_2=p.D93N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=4284711;refseq.start_2=4284711;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr19 4303959 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=4;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=266.54;QD=15.68;RankSumP=0.689423;SB=-143.66;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.597A>G;refseq.codingCoordStr_2=c.597A>G;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.end_1=4303959;refseq.end_2=4303959;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=664;refseq.mrnaCoord_2=664;refseq.name2_1=MPND;refseq.name2_2=MPND;refseq.name_1=NM_001159846;refseq.name_2=NM_032868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A199A;refseq.proteinCoordStr_2=p.A199A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=4303959;refseq.start_2=4303959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 0/1 chr19 4308555 . A G 374.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.14;MQ0=0;OQ=2043.80;QD=35.24;RankSumP=1.00000;SB=-938.85;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1059A>G;refseq.codingCoordStr_2=c.1209A>G;refseq.codonCoord_1=353;refseq.codonCoord_2=403;refseq.end_1=4308555;refseq.end_2=4308555;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1126;refseq.mrnaCoord_2=1276;refseq.name2_1=MPND;refseq.name2_2=MPND;refseq.name_1=NM_001159846;refseq.name_2=NM_032868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S353S;refseq.proteinCoordStr_2=p.S403S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=4308555;refseq.start_2=4308555;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr19 4310217 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1234T>G;refseq.codingCoordStr_2=c.1294T>G;refseq.codonCoord_1=412;refseq.codonCoord_2=432;refseq.end_1=4310217;refseq.end_2=4310217;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1361;refseq.name2_1=MPND;refseq.name2_2=MPND;refseq.name_1=NM_001159846;refseq.name_2=NM_032868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W412G;refseq.proteinCoordStr_2=p.W432G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=4310217;refseq.start_2=4310217;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 4360756 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=3.28;MQ=98.77;MQ0=0;OQ=2088.09;QD=13.22;RankSumP=0.101007;SB=-754.45;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.960A>G;refseq.codonCoord=320;refseq.end=4360756;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_005483;refseq.name2=CHAF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R320R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=4360756;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 4373715 . G A 28.31 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=99.00;MQ0=0;QD=1.67;SB=-39.51;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1170G>A;refseq.codonCoord=390;refseq.end=4373715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_005483;refseq.name2=CHAF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R390R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-78;refseq.start=4373715;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,2:8:-8.52,-2.41,-24.67:61.14 chr19 4393336 . C T 156.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=99.00;MQ0=0;OQ=557.55;QD=15.93;RankSumP=0.470328;SB=-7.00;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2768C>T;refseq.codonCoord=923;refseq.end=4393336;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2868;refseq.name=NM_005483;refseq.name2=CHAF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A923V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=4393336;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 4393999 . T G 327.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.36;MQ0=0;OQ=1143.47;QD=36.89;RankSumP=1.00000;SB=-418.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2848T>G;refseq.codonCoord=950;refseq.end=4393999;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2948;refseq.name=NM_005483;refseq.name2=CHAF1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S950A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=78;refseq.start=4393999;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 4405000 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=97.74;MQ0=0;OQ=909.38;QD=9.99;RankSumP=0.00799216;SB=-448.78;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.15C>T;refseq.codingCoordStr_2=c.174C>T;refseq.codonCoord_1=5;refseq.codonCoord_2=58;refseq.end_1=4405000;refseq.end_2=4405000;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=169;refseq.mrnaCoord_2=271;refseq.name2_1=UBXN6;refseq.name2_2=UBXN6;refseq.name_1=NM_001171091;refseq.name_2=NM_025241;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A5A;refseq.proteinCoordStr_2=p.A58A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.start_1=4405000;refseq.start_2=4405000;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/0 chr19 4405083 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=9.65;MQ=97.66;MQ0=0;OQ=515.48;QD=7.06;RankSumP=0.0409842;SB=-130.60;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.-69G>A;refseq.codingCoordStr_2=c.91G>A;refseq.codonCoord_2=31;refseq.end_1=4405083;refseq.end_2=4405083;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=86;refseq.mrnaCoord_2=188;refseq.name2_1=UBXN6;refseq.name2_2=UBXN6;refseq.name_1=NM_001171091;refseq.name_2=NM_025241;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A31T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=4405083;refseq.start_2=4405083;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr19 4444708 . A G 51.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=539.98;QD=24.54;RankSumP=1.00000;SB=-160.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.687A>G;refseq.codingCoordStr_2=c.687A>G;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.end_1=4444708;refseq.end_2=4444708;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=780;refseq.mrnaCoord_2=780;refseq.name2_1=HDGFRP2;refseq.name2_2=HDGFRP2;refseq.name_1=NM_001001520;refseq.name_2=NM_032631;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P229P;refseq.proteinCoordStr_2=p.P229P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=4444708;refseq.start_2=4444708;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr19 4450642 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.545455;SecondBestBaseQ=34;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1723-8;refseq.codingCoordStr_2=c.1723-8;refseq.end_1=4450642;refseq.end_2=4450642;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=HDGFRP2;refseq.name2_2=HDGFRP2;refseq.name_1=NM_001001520;refseq.name_2=NM_032631;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-acceptor_-8;refseq.spliceInfo_2=splice-acceptor_-8;refseq.start_1=4450642;refseq.start_2=4450642;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 4450647 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.545455;SecondBestBaseQ=34;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1723-3;refseq.codingCoordStr_2=c.1723-3;refseq.end_1=4450647;refseq.end_2=4450647;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=HDGFRP2;refseq.name2_2=HDGFRP2;refseq.name_1=NM_001001520;refseq.name_2=NM_032631;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceInfo_1=splice-acceptor_-3;refseq.spliceInfo_2=splice-acceptor_-3;refseq.start_1=4450647;refseq.start_2=4450647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 4475016 . G A 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.916C>T;refseq.codonCoord=306;refseq.end=4475016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=969;refseq.name=NM_001013706;refseq.name2=PLIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R306W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=82;refseq.start=4475016;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr19 4476046 . A G 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=96.98;MQ0=0;OQ=498.37;QD=29.32;RankSumP=1.00000;SB=-221.75;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.763T>C;refseq.codonCoord=255;refseq.end=4476046;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=816;refseq.name=NM_001013706;refseq.name2=PLIN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C255R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=43;refseq.start=4476046;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 4489599 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=213.23;QD=11.22;RankSumP=0.197521;SB=-116.93;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.397C>T;refseq.codonCoord=133;refseq.end=4489599;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_052972;refseq.name2=LRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133S;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=365;refseq.start=4489599;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr19 4495142 . G A 17.40 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=95.39;MQ0=0;QD=1.93;SB=-33.63;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2138C>T;refseq.codonCoord=713;refseq.end=4495142;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2172;refseq.name=NM_032108;refseq.name2=SEMA6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T713M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=400;refseq.start=4495142;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:8:-7.43,-2.41,-19.32:50.16 chr19 4509431 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=99.00;MQ0=0;OQ=228.77;QD=16.34;RankSumP=0.140482;SB=-107.83;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.39G>C;refseq.codonCoord=13;refseq.end=4509431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=73;refseq.name=NM_032108;refseq.name2=SEMA6B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L13L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=73;refseq.start=4509431;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr19 4721697 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.end_1=4723165;refseq.end_2=4721697;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_2=16;refseq.name2_1=C19orf30;refseq.name2_2=MIR7-3;refseq.name_1=NR_027148;refseq.name_2=NR_029607;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=16;refseq.start_1=4720780;refseq.start_2=4721697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 4743740 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=3.50761e-08;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.874A>C;refseq.codonCoord=292;refseq.end=4743740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_018708;refseq.name2=FEM1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T292P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=1013;refseq.start=4743740;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 4798713 . A G 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=97.20;MQ0=0;OQ=913.48;QD=35.13;RankSumP=1.00000;SB=-232.10;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.824T>C;refseq.codingCoordStr_2=c.788T>C;refseq.codingCoordStr_3=c.824T>C;refseq.codonCoord_1=275;refseq.codonCoord_2=263;refseq.codonCoord_3=275;refseq.end_1=4798713;refseq.end_2=4798713;refseq.end_3=4798713;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1001;refseq.mrnaCoord_2=965;refseq.mrnaCoord_3=1001;refseq.name2_1=PLIN3;refseq.name2_2=PLIN3;refseq.name2_3=PLIN3;refseq.name_1=NM_001164189;refseq.name_2=NM_001164194;refseq.name_3=NM_005817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V275A;refseq.proteinCoordStr_2=p.V263A;refseq.proteinCoordStr_3=p.V275A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.spliceDist_3=-11;refseq.start_1=4798713;refseq.start_2=4798713;refseq.start_3=4798713;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr19 4798874 . A G 302.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.68;MQ0=0;OQ=1830.61;QD=33.28;RankSumP=1.00000;SB=-794.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.663T>C;refseq.codingCoordStr_2=c.627T>C;refseq.codingCoordStr_3=c.663T>C;refseq.codonCoord_1=221;refseq.codonCoord_2=209;refseq.codonCoord_3=221;refseq.end_1=4798874;refseq.end_2=4798874;refseq.end_3=4798874;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=804;refseq.mrnaCoord_3=840;refseq.name2_1=PLIN3;refseq.name2_2=PLIN3;refseq.name2_3=PLIN3;refseq.name_1=NM_001164189;refseq.name_2=NM_001164194;refseq.name_3=NM_005817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F221F;refseq.proteinCoordStr_2=p.F209F;refseq.proteinCoordStr_3=p.F221F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=4798874;refseq.start_2=4798874;refseq.start_3=4798874;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr19 4803106 . A G 348.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=98.83;MQ0=0;OQ=3004.73;QD=34.94;RankSumP=1.00000;SB=-1052.44;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.556T>C;refseq.codingCoordStr_2=c.520T>C;refseq.codingCoordStr_3=c.556T>C;refseq.codonCoord_1=186;refseq.codonCoord_2=174;refseq.codonCoord_3=186;refseq.end_1=4803106;refseq.end_2=4803106;refseq.end_3=4803106;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=697;refseq.mrnaCoord_3=733;refseq.name2_1=PLIN3;refseq.name2_2=PLIN3;refseq.name2_3=PLIN3;refseq.name_1=NM_001164189;refseq.name_2=NM_001164194;refseq.name_3=NM_005817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L186L;refseq.proteinCoordStr_2=p.L174L;refseq.proteinCoordStr_3=p.L186L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.spliceDist_3=-79;refseq.start_1=4803106;refseq.start_2=4803106;refseq.start_3=4803106;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr19 4803137 . C T 384.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.85;MQ0=0;OQ=3402.69;QD=35.82;RankSumP=1.00000;SB=-1307.34;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.525G>A;refseq.codingCoordStr_2=c.489G>A;refseq.codingCoordStr_3=c.525G>A;refseq.codonCoord_1=175;refseq.codonCoord_2=163;refseq.codonCoord_3=175;refseq.end_1=4803137;refseq.end_2=4803137;refseq.end_3=4803137;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=702;refseq.mrnaCoord_2=666;refseq.mrnaCoord_3=702;refseq.name2_1=PLIN3;refseq.name2_2=PLIN3;refseq.name2_3=PLIN3;refseq.name_1=NM_001164189;refseq.name_2=NM_001164194;refseq.name_3=NM_005817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S175S;refseq.proteinCoordStr_2=p.S163S;refseq.proteinCoordStr_3=p.S175S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-110;refseq.spliceDist_2=-110;refseq.spliceDist_3=-110;refseq.start_1=4803137;refseq.start_2=4803137;refseq.start_3=4803137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;set=Intersection GT 1/1 chr19 4810937 . T C 231.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=8.50;MQ=98.42;MQ0=0;OQ=2350.56;QD=15.78;RankSumP=0.443576;SB=-544.87;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.166A>G;refseq.codingCoordStr_2=c.166A>G;refseq.codingCoordStr_3=c.166A>G;refseq.codonCoord_1=56;refseq.codonCoord_2=56;refseq.codonCoord_3=56;refseq.end_1=4810937;refseq.end_2=4810937;refseq.end_3=4810937;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=343;refseq.mrnaCoord_2=343;refseq.mrnaCoord_3=343;refseq.name2_1=PLIN3;refseq.name2_2=PLIN3;refseq.name2_3=PLIN3;refseq.name_1=NM_001164189;refseq.name_2=NM_001164194;refseq.name_3=NM_005817;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I56V;refseq.proteinCoordStr_2=p.I56V;refseq.proteinCoordStr_3=p.I56V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=100;refseq.spliceDist_2=100;refseq.spliceDist_3=100;refseq.start_1=4810937;refseq.start_2=4810937;refseq.start_3=4810937;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr19 4992178 . T C 358.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=98.94;MQ0=0;OQ=6222.03;QD=17.78;RankSumP=0.299824;SB=-1914.28;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.348T>C;refseq.codonCoord=116;refseq.end=4992178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_015015;refseq.name2=KDM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D116D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=31;refseq.start=4992178;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 5086392 . A G 290.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.60;MQ0=0;OQ=8941.93;QD=39.05;RankSumP=1.00000;SB=-3176.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2128A>G;refseq.codonCoord=710;refseq.end=5086392;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2354;refseq.name=NM_015015;refseq.name2=KDM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K710E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=43;refseq.start=5086392;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr19 5095896 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3004A>C;refseq.codonCoord=1002;refseq.end=5095896;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3230;refseq.name=NM_015015;refseq.name2=KDM4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1002P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-18;refseq.start=5095896;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 5165697 . A G 280.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.21;MQ0=0;OQ=4334.48;QD=34.13;RankSumP=1.00000;SB=-2115.52;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.4369T>C;refseq.codingCoordStr_2=c.3028T>C;refseq.codingCoordStr_3=c.4255T>C;refseq.codingCoordStr_4=c.3040T>C;refseq.codonCoord_1=1457;refseq.codonCoord_2=1010;refseq.codonCoord_3=1419;refseq.codonCoord_4=1014;refseq.end_1=5165697;refseq.end_2=5165697;refseq.end_3=5165697;refseq.end_4=5165697;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=4603;refseq.mrnaCoord_2=3262;refseq.mrnaCoord_3=4489;refseq.mrnaCoord_4=3274;refseq.name2_1=PTPRS;refseq.name2_2=PTPRS;refseq.name2_3=PTPRS;refseq.name2_4=PTPRS;refseq.name_1=NM_002850;refseq.name_2=NM_130853;refseq.name_3=NM_130854;refseq.name_4=NM_130855;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C1457R;refseq.proteinCoordStr_2=p.C1010R;refseq.proteinCoordStr_3=p.C1419R;refseq.proteinCoordStr_4=p.C1014R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.spliceDist_3=51;refseq.spliceDist_4=51;refseq.start_1=5165697;refseq.start_2=5165697;refseq.start_3=5165697;refseq.start_4=5165697;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;set=Intersection GT 1/1 chr19 5406796 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=11.05;MQ=98.67;MQ0=0;OQ=2176.13;QD=12.73;RankSumP=0.0962957;SB=-864.04;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.294A>G;refseq.codonCoord=98;refseq.end=5406796;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_181710;refseq.name2=ZNRF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A98A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=371;refseq.start=5406796;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 5407450 . T C 283.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.47;MQ0=0;OQ=5186.65;QD=15.76;RankSumP=0.302129;SB=-1071.38;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.948T>C;refseq.codonCoord=316;refseq.end=5407450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_181710;refseq.name2=ZNRF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y316Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-418;refseq.start=5407450;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 5619176 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.45;MQ0=0;OQ=1791.37;QD=15.85;RankSumP=0.0828517;SB=-874.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2622C>T;refseq.codonCoord=874;refseq.end=5619176;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2675;refseq.name=NM_002967;refseq.name2=SAFB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R874R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=5619176;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr19 5647146 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=20.38;MQ=98.63;MQ0=0;OQ=2249.07;QD=10.22;RankSumP=0.297016;SB=-890.65;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1932C>T;refseq.codonCoord=644;refseq.end=5647146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1965;refseq.name=NM_004793;refseq.name2=LONP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T644T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=36;refseq.start=5647146;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 5670776 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.368A>C;refseq.codonCoord=123;refseq.end=5670776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=401;refseq.name=NM_004793;refseq.name2=LONP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H123P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-62;refseq.start=5670776;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 5700171 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=212;Dels=0.00;HRun=0;HaplotypeScore=4.40;MQ=98.66;MQ0=0;OQ=2700.97;QD=12.74;RankSumP=0.404058;SB=-803.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.964A>G;refseq.codonCoord=322;refseq.end=5700171;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_152784;refseq.name2=TMEM146;refseq.positionType=CDS;refseq.proteinCoordStr=p.I322V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-24;refseq.start=5700171;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 5729517 . A T 255.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=4.21;MQ=98.80;MQ0=0;OQ=2423.10;QD=15.73;RankSumP=0.0202807;SB=-658.83;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2227A>T;refseq.codonCoord=743;refseq.end=5729517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2288;refseq.name=NM_152784;refseq.name2=TMEM146;refseq.positionType=CDS;refseq.proteinCoordStr=p.T743S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=131;refseq.start=5729517;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 5734634 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=496.80;QD=17.13;RankSumP=0.438546;SB=-162.34;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.624A>G;refseq.codonCoord=208;refseq.end=5734634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_001134316;refseq.name2=PRR22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P208P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=431;refseq.start=5734634;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 5734712 . C T 38.40 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;QD=12.80;RankSumP=0.666667;SB=-44.66;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.546G>A;refseq.codonCoord=182;refseq.end=5734712;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=651;refseq.name=NM_001134316;refseq.name2=PRR22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P182P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=353;refseq.start=5734712;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr19 5734905 . G A 41.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=98.26;MQ0=0;QD=10.34;RankSumP=0.600000;SB=-43.54;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.353C>T;refseq.codonCoord=118;refseq.end=5734905;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=458;refseq.name=NM_001134316;refseq.name2=PRR22;refseq.positionType=CDS;refseq.proteinCoordStr=p.P118L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=160;refseq.start=5734905;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 1/0 chr19 5737815 . G A 143.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=12.15;MQ=97.98;MQ0=0;OQ=2264.91;QD=15.30;RankSumP=0.383488;SB=-1074.49;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.705C>T;refseq.codingCoordStr_2=c.1431C>T;refseq.codonCoord_1=235;refseq.codonCoord_2=477;refseq.end_1=5737815;refseq.end_2=5737815;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=1528;refseq.name2_1=DUS3L;refseq.name2_2=DUS3L;refseq.name_1=NM_001161619;refseq.name_2=NM_020175;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A235A;refseq.proteinCoordStr_2=p.A477A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=5737815;refseq.start_2=5737815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr19 5740565 . T C 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=18;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=95.00;MQ0=0;OQ=360.16;QD=20.01;RankSumP=0.0898513;SB=-198.35;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.553A>G;refseq.codonCoord_2=185;refseq.end_1=5741260;refseq.end_2=5740565;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=650;refseq.name2_1=DUS3L;refseq.name2_2=DUS3L;refseq.name_1=NM_001161619;refseq.name_2=NM_020175;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R185G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=166;refseq.start_1=5739420;refseq.start_2=5740565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr19 5782724 . T C 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=457;Dels=0.00;HRun=0;HaplotypeScore=14.46;MQ=11.98;MQ0=449;OQ=125.60;QD=0.27;RankSumP=0.250000;SB=-43.68;SecondBestBaseQ=35;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.855A>G;refseq.codingCoordStr_2=c.855A>G;refseq.codonCoord_1=285;refseq.codonCoord_2=285;refseq.end_1=5782724;refseq.end_2=5782724;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2050;refseq.mrnaCoord_2=1922;refseq.name2_1=FUT6;refseq.name2_2=FUT6;refseq.name_1=NM_000150;refseq.name_2=NM_001040701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P285P;refseq.proteinCoordStr_2=p.P285P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=867;refseq.spliceDist_2=867;refseq.start_1=5782724;refseq.start_2=5782724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr19 5783209 . G A 154.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=17.62;MQ=96.90;MQ0=0;OQ=2769.49;QD=15.13;RankSumP=0.427057;SB=-1331.41;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.370C>T;refseq.codingCoordStr_2=c.370C>T;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=5783209;refseq.end_2=5783209;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1565;refseq.mrnaCoord_2=1437;refseq.name2_1=FUT6;refseq.name2_2=FUT6;refseq.name_1=NM_000150;refseq.name_2=NM_001040701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P124S;refseq.proteinCoordStr_2=p.P124S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=382;refseq.spliceDist_2=382;refseq.start_1=5783209;refseq.start_2=5783209;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr19 5794822 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.348499;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1029A>G;refseq.codingCoordStr_2=c.1029A>G;refseq.codingCoordStr_3=c.1029A>G;refseq.codingCoordStr_4=c.1029A>G;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.codonCoord_3=343;refseq.codonCoord_4=343;refseq.end_1=5794822;refseq.end_2=5794822;refseq.end_3=5794822;refseq.end_4=5794822;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1319;refseq.mrnaCoord_3=1265;refseq.mrnaCoord_4=1126;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K343K;refseq.proteinCoordStr_2=p.K343K;refseq.proteinCoordStr_3=p.K343K;refseq.proteinCoordStr_4=p.K343K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-924;refseq.spliceDist_2=-924;refseq.spliceDist_3=-924;refseq.spliceDist_4=-924;refseq.start_1=5794822;refseq.start_2=5794822;refseq.start_3=5794822;refseq.start_4=5794822;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=soap GT 1/0 chr19 5794844 . T G 37 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.000242097;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1007A>C;refseq.codingCoordStr_2=c.1007A>C;refseq.codingCoordStr_3=c.1007A>C;refseq.codingCoordStr_4=c.1007A>C;refseq.codonCoord_1=336;refseq.codonCoord_2=336;refseq.codonCoord_3=336;refseq.codonCoord_4=336;refseq.end_1=5794844;refseq.end_2=5794844;refseq.end_3=5794844;refseq.end_4=5794844;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1645;refseq.mrnaCoord_2=1297;refseq.mrnaCoord_3=1243;refseq.mrnaCoord_4=1104;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D336A;refseq.proteinCoordStr_2=p.D336A;refseq.proteinCoordStr_3=p.D336A;refseq.proteinCoordStr_4=p.D336A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=-946;refseq.spliceDist_2=-946;refseq.spliceDist_3=-946;refseq.spliceDist_4=-946;refseq.start_1=5794844;refseq.start_2=5794844;refseq.start_3=5794844;refseq.start_4=5794844;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=FilteredInAll GT 1/0 chr19 5794877 . G A 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0872437;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.974C>T;refseq.codingCoordStr_2=c.974C>T;refseq.codingCoordStr_3=c.974C>T;refseq.codingCoordStr_4=c.974C>T;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.codonCoord_3=325;refseq.codonCoord_4=325;refseq.end_1=5794877;refseq.end_2=5794877;refseq.end_3=5794877;refseq.end_4=5794877;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1612;refseq.mrnaCoord_2=1264;refseq.mrnaCoord_3=1210;refseq.mrnaCoord_4=1071;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T325M;refseq.proteinCoordStr_2=p.T325M;refseq.proteinCoordStr_3=p.T325M;refseq.proteinCoordStr_4=p.T325M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=-979;refseq.spliceDist_2=-979;refseq.spliceDist_3=-979;refseq.spliceDist_4=-979;refseq.start_1=5794877;refseq.start_2=5794877;refseq.start_3=5794877;refseq.start_4=5794877;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=FilteredInAll GT 1/0 chr19 5795537 . A G 315.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.59;MQ0=0;OQ=2614.16;QD=17.66;RankSumP=0.107027;SB=-1259.73;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.314T>C;refseq.codingCoordStr_2=c.314T>C;refseq.codingCoordStr_3=c.314T>C;refseq.codingCoordStr_4=c.314T>C;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.codonCoord_4=105;refseq.end_1=5795537;refseq.end_2=5795537;refseq.end_3=5795537;refseq.end_4=5795537;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=952;refseq.mrnaCoord_2=604;refseq.mrnaCoord_3=550;refseq.mrnaCoord_4=411;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M105T;refseq.proteinCoordStr_2=p.M105T;refseq.proteinCoordStr_3=p.M105T;refseq.proteinCoordStr_4=p.M105T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=326;refseq.spliceDist_2=326;refseq.spliceDist_3=326;refseq.spliceDist_4=326;refseq.start_1=5795537;refseq.start_2=5795537;refseq.start_3=5795537;refseq.start_4=5795537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr19 5795649 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.09;MQ0=0;OQ=677.79;QD=12.55;RankSumP=0.299322;SB=-153.59;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.202C>T;refseq.codingCoordStr_2=c.202C>T;refseq.codingCoordStr_3=c.202C>T;refseq.codingCoordStr_4=c.202C>T;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.codonCoord_4=68;refseq.end_1=5795649;refseq.end_2=5795649;refseq.end_3=5795649;refseq.end_4=5795649;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=492;refseq.mrnaCoord_3=438;refseq.mrnaCoord_4=299;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R68W;refseq.proteinCoordStr_2=p.R68W;refseq.proteinCoordStr_3=p.R68W;refseq.proteinCoordStr_4=p.R68W;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=214;refseq.spliceDist_2=214;refseq.spliceDist_3=214;refseq.spliceDist_4=214;refseq.start_1=5795649;refseq.start_2=5795649;refseq.start_3=5795649;refseq.start_4=5795649;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=Intersection GT 1/0 chr19 5795830 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.21C>A;refseq.codingCoordStr_2=c.21C>A;refseq.codingCoordStr_3=c.21C>A;refseq.codingCoordStr_4=c.21C>A;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.codonCoord_3=7;refseq.codonCoord_4=7;refseq.end_1=5795830;refseq.end_2=5795830;refseq.end_3=5795830;refseq.end_4=5795830;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=659;refseq.mrnaCoord_2=311;refseq.mrnaCoord_3=257;refseq.mrnaCoord_4=118;refseq.name2_1=FUT3;refseq.name2_2=FUT3;refseq.name2_3=FUT3;refseq.name2_4=FUT3;refseq.name_1=NM_000149;refseq.name_2=NM_001097639;refseq.name_3=NM_001097640;refseq.name_4=NM_001097641;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A7A;refseq.proteinCoordStr_2=p.A7A;refseq.proteinCoordStr_3=p.A7A;refseq.proteinCoordStr_4=p.A7A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=5795830;refseq.start_2=5795830;refseq.start_3=5795830;refseq.start_4=5795830;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=FilteredInAll GT 0/1 chr19 5817654 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=4.46;MQ=58.15;MQ0=18;OQ=2960.18;QD=25.97;RankSumP=1.00000;SB=-1416.71;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1083T>C;refseq.codonCoord=361;refseq.end=5817654;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S361S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-818;refseq.start=5817654;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr19 5817724 . G A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=33.35;MQ0=28;OQ=402.69;QD=6.39;RankSumP=0.437564;SB=-180.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1013C>T;refseq.codonCoord=338;refseq.end=5817724;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1101;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T338M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-888;refseq.start=5817724;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr19 5817736 . T C 35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=24.99;MQ0=30;OQ=188.04;QD=4.00;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1001A>G;refseq.codonCoord=334;refseq.end=5817736;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H334R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-900;refseq.start=5817736;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 5817816 rs28541500 G A 10.16 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=4.16;MQ0=351;QD=0.03;SB=-10.00;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.921C>T;refseq.codonCoord=307;refseq.end=5817816;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D307D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=933;refseq.start=5817816;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:223,129:1:-4.26,-0.30,-0.00:1.76 chr19 5817840 rs13346240 T C 39.55 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=12.95;MQ=5.87;MQ0=394;QD=0.10;SB=-42.96;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.897A>G;refseq.codonCoord=299;refseq.end=5817840;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=985;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P299P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=909;refseq.start=5817840;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:180,212:2:-7.36,-0.60,-0.00:6.02 chr19 5818177 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=27.04;MQ=39.58;MQ0=163;OQ=439.12;QD=2.08;RankSumP=0.248246;SB=-42.55;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.560C>T;refseq.codonCoord=187;refseq.end=5818177;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P187L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=572;refseq.start=5818177;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 5818700 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=1.23565e-05;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.37T>G;refseq.codonCoord=13;refseq.end=5818700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_002034;refseq.name2=FUT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.W13G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=49;refseq.start=5818700;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 5967270 . A C 43.57 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=109;Dels=0.00;HRun=1;HaplotypeScore=5.23;MQ=97.68;MQ0=0;QD=0.40;RankSumP=0.00000;SB=116.39;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.610T>G;refseq.codingCoordStr_2=c.535T>G;refseq.codonCoord_1=204;refseq.codonCoord_2=179;refseq.end_1=5967270;refseq.end_2=5967270;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=879;refseq.mrnaCoord_2=804;refseq.name2_1=RFX2;refseq.name2_2=RFX2;refseq.name_1=NM_000635;refseq.name_2=NM_134433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L204V;refseq.proteinCoordStr_2=p.L179V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=5967270;refseq.start_2=5967270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=FilteredInAll GT 0/1 chr19 5991135 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=264.59;QD=17.64;RankSumP=0.759696;SB=-50.66;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.378G>A;refseq.codingCoordStr_2=c.378G>A;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=5991135;refseq.end_2=5991135;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=647;refseq.mrnaCoord_2=647;refseq.name2_1=RFX2;refseq.name2_2=RFX2;refseq.name_1=NM_000635;refseq.name_2=NM_134433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A126A;refseq.proteinCoordStr_2=p.A126A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=5991135;refseq.start_2=5991135;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr19 5993059 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.05;MQ0=0;OQ=624.78;QD=16.02;RankSumP=0.528564;SB=-154.59;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.256G>A;refseq.codingCoordStr_2=c.256G>A;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.end_1=5993059;refseq.end_2=5993059;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=525;refseq.mrnaCoord_2=525;refseq.name2_1=RFX2;refseq.name2_2=RFX2;refseq.name_1=NM_000635;refseq.name_2=NM_134433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A86T;refseq.proteinCoordStr_2=p.A86T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=5993059;refseq.start_2=5993059;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr19 6107483 . T C 229.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=1669.88;QD=18.98;RankSumP=0.0976739;SB=-596.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.428T>C;refseq.codonCoord=143;refseq.end=6107483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_030924;refseq.name2=ACSBG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V143A;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=42;refseq.start=6107483;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr19 6107510 . A G 116.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.92;MQ0=0;OQ=1886.04;QD=15.33;RankSumP=0.181903;SB=-737.89;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.455A>G;refseq.codonCoord=152;refseq.end=6107510;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=697;refseq.name=NM_030924;refseq.name2=ACSBG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K152R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-53;refseq.start=6107510;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr19 6263290 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=365;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.58;MQ0=0;OQ=6402.42;QD=17.54;RankSumP=0.402496;SB=-2676.73;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.220A>G;refseq.codonCoord=74;refseq.end=6263290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_133492;refseq.name2=ACER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M74V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=12;refseq.start=6263290;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 6417482 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.88;MQ0=0;OQ=1231.63;QD=12.57;RankSumP=0.384330;SB=-606.95;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.162A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=6417482;refseq.end_2=6417482;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=358;refseq.name2_1=CRB3;refseq.name2_2=CRB3;refseq.name_1=NM_139161;refseq.name_2=NM_174881;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P54P;refseq.proteinCoordStr_2=p.P54P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=6417482;refseq.start_2=6417482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr19 6446736 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=165;Dels=0.00;HRun=3;HaplotypeScore=9.90;MQ=87.99;MQ0=2;OQ=5982.75;QD=36.26;RankSumP=1.00000;SB=-2548.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.774T>C;refseq.codonCoord=258;refseq.end=6446736;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_006087;refseq.name2=TUBB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V258V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=497;refseq.start=6446736;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 6486014 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=82;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=98.44;MQ0=0;OQ=1304.61;QD=15.91;RankSumP=0.478088;SB=-591.00;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.702C>A;refseq.codonCoord=234;refseq.end=6486014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=740;refseq.name=NM_003811;refseq.name2=TNFSF9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V234V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=404;refseq.start=6486014;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr19 6616020 . T C 92.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=97.47;MQ0=0;OQ=2691.69;QD=31.67;RankSumP=1.00000;SB=-687.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.640A>G;refseq.codingCoordStr_2=c.532A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=178;refseq.end_1=6616020;refseq.end_2=6616020;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1022;refseq.mrnaCoord_2=914;refseq.name2_1=TNFSF14;refseq.name2_2=TNFSF14;refseq.name_1=NM_003807;refseq.name_2=NM_172014;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K214E;refseq.proteinCoordStr_2=p.K178E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=342;refseq.spliceDist_2=342;refseq.start_1=6616020;refseq.start_2=6616020;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 6620934 . G A 137.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.37;MQ0=0;OQ=1555.70;QD=20.74;RankSumP=0.164333;SB=-788.69;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.147C>T;refseq.codonCoord_2=49;refseq.end_1=6620959;refseq.end_2=6620934;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=529;refseq.name2_1=TNFSF14;refseq.name2_2=TNFSF14;refseq.name_1=NM_172014;refseq.name_2=NM_003807;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A49A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-73;refseq.start_1=6618471;refseq.start_2=6620934;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr19 6628989 . G A 355.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=490;Dels=0.00;HRun=0;HaplotypeScore=10.62;MQ=98.57;MQ0=0;OQ=9391.17;QD=19.17;RankSumP=0.319385;SB=-2516.75;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4896C>T;refseq.codonCoord=1632;refseq.end=6628989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4958;refseq.name=NM_000064;refseq.name2=C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1632P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=46;refseq.start=6628989;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 6648406 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=441;Dels=0.00;HRun=1;HaplotypeScore=24.79;MQ=98.68;MQ0=0;OQ=6065.49;QD=13.75;RankSumP=0.0275196;SB=-1605.44;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2745T>C;refseq.codonCoord=915;refseq.end=6648406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2807;refseq.name=NM_000064;refseq.name2=C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A915A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-52;refseq.start=6648406;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 6653157 . C G 343.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=98.10;MQ0=0;OQ=5614.58;QD=21.35;RankSumP=0.173264;SB=-2309.52;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2421G>C;refseq.codonCoord=807;refseq.end=6653157;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2483;refseq.name=NM_000064;refseq.name2=C3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V807V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-20;refseq.start=6653157;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 6682057 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.98;MQ=98.09;MQ0=0;OQ=1098.83;QD=18.01;RankSumP=0.381938;SB=-297.97;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1500A>G;refseq.codingCoordStr_2=c.774A>G;refseq.codonCoord_1=500;refseq.codonCoord_2=258;refseq.end_1=6682057;refseq.end_2=6682057;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1546;refseq.mrnaCoord_2=1684;refseq.name2_1=GPR108;refseq.name2_2=GPR108;refseq.name_1=NM_001080452;refseq.name_2=NM_020171;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G500G;refseq.proteinCoordStr_2=p.G258G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=6682057;refseq.start_2=6682057;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr19 6688481 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=92.63;MQ0=0;OQ=213.29;QD=7.62;RankSumP=0.736979;SB=-87.80;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.107A>G;refseq.codonCoord=36;refseq.end=6688481;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=153;refseq.name=NM_001080452;refseq.name2=GPR108;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q36R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-14;refseq.start=6688481;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr19 6688509 . G A 2.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=6.44;MQ=91.98;MQ0=0;OQ=182.82;QD=8.71;RankSumP=0.294705;SB=-71.06;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.79C>T;refseq.codonCoord=27;refseq.end=6688509;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_001080452;refseq.name2=GPR108;refseq.positionType=CDS;refseq.proteinCoordStr=p.L27L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-42;refseq.start=6688509;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 1/0 chr19 6688516 rs11539591 C T 1.03 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=5.90;MQ=92.63;MQ0=0;OQ=151.58;QD=7.58;SB=-67.28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.72G>A;refseq.codonCoord=24;refseq.end=6688516;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=118;refseq.name=NM_001080452;refseq.name2=GPR108;refseq.positionType=CDS;refseq.proteinCoordStr=p.V24V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-49;refseq.start=6688516;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=gatk GT:AD:DP:GL:GQ 0/1:12,8:11:-21.76,-3.32,-18.80:99 chr19 6706007 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=484.11;QD=8.35;RankSumP=0.746654;SB=-220.42;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.816A>G;refseq.codonCoord=272;refseq.end=6706007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1010;refseq.name=NM_005490;refseq.name2=SH2D3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T272T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-166;refseq.start=6706007;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr19 6864811 . A G 121.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=631;Dels=0.00;HRun=0;HaplotypeScore=10.50;MQ=98.86;MQ0=0;OQ=12200.71;QD=19.34;RankSumP=0.403155;SB=-4723.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1270A>G;refseq.codonCoord=424;refseq.end=6864811;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1308;refseq.name=NM_001974;refseq.name2=EMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I424V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-31;refseq.start=6864811;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 6870624 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=450;Dels=0.00;HRun=1;HaplotypeScore=6.29;MQ=98.62;MQ0=0;OQ=9101.44;QD=20.23;RankSumP=0.108355;SB=-3385.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1486A>C;refseq.codonCoord=496;refseq.end=6870624;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1524;refseq.name=NM_001974;refseq.name2=EMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K496Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=66;refseq.start=6870624;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr19 6870753 . A G 232.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=1910.37;QD=16.47;RankSumP=0.320155;SB=-525.95;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1615A>G;refseq.codonCoord=539;refseq.end=6870753;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1653;refseq.name=NM_001974;refseq.name2=EMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I539V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=6870753;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr19 6872868 . G A 194.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=98.77;MQ0=0;OQ=9622.39;QD=17.56;RankSumP=0.137209;SB=-3326.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1765G>A;refseq.codonCoord=589;refseq.end=6872868;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1803;refseq.name=NM_001974;refseq.name2=EMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V589I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-27;refseq.start=6872868;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 6888341 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2469T>G;refseq.codonCoord=823;refseq.end=6888341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2507;refseq.name=NM_001974;refseq.name2=EMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G823G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-82;refseq.start=6888341;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 7002588 . G A 6 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.582G>A;refseq.codonCoord=194;refseq.end=7002588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_144614;refseq.name2=MBD3L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q194Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-159;refseq.start=7002588;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/1 chr19 7034629 . A G 288.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.49;MQ0=0;OQ=2874.78;QD=16.06;RankSumP=0.414968;SB=-990.20;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1167A>G;refseq.codingCoordStr_2=c.1146A>G;refseq.codingCoordStr_3=c.1167A>G;refseq.codonCoord_1=389;refseq.codonCoord_2=382;refseq.codonCoord_3=389;refseq.end_1=7034629;refseq.end_2=7034629;refseq.end_3=7034629;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1640;refseq.mrnaCoord_2=1631;refseq.mrnaCoord_3=1652;refseq.name2_1=ZNF557;refseq.name2_2=ZNF557;refseq.name2_3=ZNF557;refseq.name_1=NM_001044387;refseq.name_2=NM_001044388;refseq.name_3=NM_024341;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S389S;refseq.proteinCoordStr_2=p.S382S;refseq.proteinCoordStr_3=p.S389S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=741;refseq.spliceDist_2=741;refseq.spliceDist_3=741;refseq.start_1=7034629;refseq.start_2=7034629;refseq.start_3=7034629;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chr19 7070593 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3661T>G;refseq.codingCoordStr_2=c.3625T>G;refseq.codonCoord_1=1221;refseq.codonCoord_2=1209;refseq.end_1=7070593;refseq.end_2=7070593;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3770;refseq.mrnaCoord_2=3734;refseq.name2_1=INSR;refseq.name2_2=INSR;refseq.name_1=NM_000208;refseq.name_2=NM_001079817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1221A;refseq.proteinCoordStr_2=p.S1209A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=7070593;refseq.start_2=7070593;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr19 7076297 . G A 326.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.72;MQ0=0;OQ=5665.97;QD=18.89;RankSumP=0.367314;SB=-1989.29;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3255C>T;refseq.codingCoordStr_2=c.3219C>T;refseq.codonCoord_1=1085;refseq.codonCoord_2=1073;refseq.end_1=7076297;refseq.end_2=7076297;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3364;refseq.mrnaCoord_2=3328;refseq.name2_1=INSR;refseq.name2_2=INSR;refseq.name_1=NM_000208;refseq.name_2=NM_001079817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1085H;refseq.proteinCoordStr_2=p.H1073H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=7076297;refseq.start_2=7076297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr19 7092752 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2618A>G;refseq.codingCoordStr_2=c.2582A>G;refseq.codonCoord_1=873;refseq.codonCoord_2=861;refseq.end_1=7092752;refseq.end_2=7092752;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2727;refseq.mrnaCoord_2=2691;refseq.name2_1=INSR;refseq.name2_2=INSR;refseq.name_1=NM_000208;refseq.name_2=NM_001079817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E873G;refseq.proteinCoordStr_2=p.E861G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=7092752;refseq.start_2=7092752;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 7092775 . G A 357.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=10.59;MQ=98.44;MQ0=0;OQ=8205.82;QD=19.87;RankSumP=0.247884;SB=-2389.37;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2595C>T;refseq.codingCoordStr_2=c.2559C>T;refseq.codonCoord_1=865;refseq.codonCoord_2=853;refseq.end_1=7092775;refseq.end_2=7092775;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2704;refseq.mrnaCoord_2=2668;refseq.name2_1=INSR;refseq.name2_2=INSR;refseq.name_1=NM_000208;refseq.name_2=NM_001079817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N865N;refseq.proteinCoordStr_2=p.N853N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=7092775;refseq.start_2=7092775;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr19 7114084 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1988C>G;refseq.codingCoordStr_2=c.1988C>G;refseq.codonCoord_1=663;refseq.codonCoord_2=663;refseq.end_1=7114084;refseq.end_2=7114084;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2097;refseq.mrnaCoord_2=2097;refseq.name2_1=INSR;refseq.name2_2=INSR;refseq.name_1=NM_000208;refseq.name_2=NM_001079817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A663G;refseq.proteinCoordStr_2=p.A663G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=7114084;refseq.start_2=7114084;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 7430846 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=149.60;QD=5.98;RankSumP=0.101581;SB=-97.55;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1854C>T;refseq.codingCoordStr_2=c.1380C>T;refseq.codonCoord_1=618;refseq.codonCoord_2=460;refseq.end_1=7430846;refseq.end_2=7430846;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2107;refseq.mrnaCoord_2=1586;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V618V;refseq.proteinCoordStr_2=p.V460V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=7430846;refseq.start_2=7430846;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 0/1 chr19 7430855 . C T 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.43;MQ0=0;OQ=163.63;QD=7.44;RankSumP=0.317627;SB=-104.89;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1863C>T;refseq.codingCoordStr_2=c.1389C>T;refseq.codonCoord_1=621;refseq.codonCoord_2=463;refseq.end_1=7430855;refseq.end_2=7430855;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2116;refseq.mrnaCoord_2=1595;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R621R;refseq.proteinCoordStr_2=p.R463R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=7430855;refseq.start_2=7430855;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr19 7434734 . A G 99.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=97.74;MQ0=0;OQ=843.85;QD=13.19;RankSumP=0.481176;SB=-428.58;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2102A>G;refseq.codingCoordStr_2=c.1628A>G;refseq.codonCoord_1=701;refseq.codonCoord_2=543;refseq.end_1=7434734;refseq.end_2=7434734;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2355;refseq.mrnaCoord_2=1834;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q701R;refseq.proteinCoordStr_2=p.Q543R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=7434734;refseq.start_2=7434734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr19 7438252 . G C 13.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=79.92;QD=19.98;RankSumP=1.00000;SB=-42.88;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2598G>C;refseq.codingCoordStr_2=c.2124G>C;refseq.codonCoord_1=866;refseq.codonCoord_2=708;refseq.end_1=7438252;refseq.end_2=7438252;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2851;refseq.mrnaCoord_2=2330;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A866A;refseq.proteinCoordStr_2=p.A708A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=153;refseq.spliceDist_2=153;refseq.start_1=7438252;refseq.start_2=7438252;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=filterInsoap-gatk GT 1/1 chr19 7439767 . T G 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.38;MQ0=0;OQ=283.33;QD=9.14;RankSumP=0.144901;SB=-125.92;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2973T>G;refseq.codingCoordStr_2=c.2499T>G;refseq.codonCoord_1=991;refseq.codonCoord_2=833;refseq.end_1=7439767;refseq.end_2=7439767;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3226;refseq.mrnaCoord_2=2705;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R991R;refseq.proteinCoordStr_2=p.R833R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=7439767;refseq.start_2=7439767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr19 7439850 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=96.78;MQ0=0;OQ=430.82;QD=11.64;RankSumP=0.369828;SB=-166.68;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3056A>G;refseq.codingCoordStr_2=c.2582A>G;refseq.codonCoord_1=1019;refseq.codonCoord_2=861;refseq.end_1=7439850;refseq.end_2=7439850;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3309;refseq.mrnaCoord_2=2788;refseq.name2_1=ARHGEF18;refseq.name2_2=ARHGEF18;refseq.name_1=NM_001130955;refseq.name_2=NM_015318;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N1019S;refseq.proteinCoordStr_2=p.N861S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=140;refseq.spliceDist_2=140;refseq.start_1=7439850;refseq.start_2=7439850;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr19 7475282 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=2.65;MQ=98.71;MQ0=0;OQ=1327.05;QD=19.23;RankSumP=0.432656;SB=-513.23;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.767A>G;refseq.codonCoord=256;refseq.end=7475282;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.D256G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-16;refseq.start=7475282;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 7476978 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=3;HaplotypeScore=1.75;MQ=97.89;MQ0=0;OQ=1522.85;QD=12.80;RankSumP=0.147326;SB=-551.51;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1134T>C;refseq.codonCoord=378;refseq.end=7476978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1275;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.P378P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-74;refseq.start=7476978;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 7476990 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=5.83;MQ=97.59;MQ0=0;OQ=1228.20;QD=11.17;RankSumP=0.235384;SB=-424.20;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1146A>G;refseq.codonCoord=382;refseq.end=7476990;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1287;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R382R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-62;refseq.start=7476990;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 7477030 . T A 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=6.01;MQ=96.08;MQ0=0;OQ=332.42;QD=6.04;RankSumP=0.550523;SB=-10.88;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1186T>A;refseq.codonCoord=396;refseq.end=7477030;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y396N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-22;refseq.start=7477030;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 7479098 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=269.10;QD=6.90;RankSumP=0.247180;SB=-26.34;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1300T>A;refseq.codonCoord=434;refseq.end=7479098;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1441;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y434N;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=7479098;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 7479287 rs1133378 C T 72.52 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=6.69;MQ=98.66;MQ0=0;OQ=1021.47;QD=11.35;SB=-481.38;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1489C>T;refseq.codonCoord=497;refseq.end=7479287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1630;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.P497S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-50;refseq.start=7479287;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=gatk GT:AD:DP:GL:GQ 0/1:57,33:82:-130.13,-24.70,-208.99:99 chr19 7479297 rs608144 T C 5.79 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=2;HaplotypeScore=3.76;MQ=98.66;MQ0=0;OQ=926.02;QD=10.29;SB=-348.21;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1499T>C;refseq.codonCoord=500;refseq.end=7479297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.L500P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-40;refseq.start=7479297;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=gatk GT:AD:DP:GL:GQ 0/1:57,33:81:-120.29,-24.40,-200.68:99 chr19 7479301 rs1133380 C T 24.63 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=98.66;MQ0=0;OQ=995.47;QD=11.19;SB=-356.83;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1503C>T;refseq.codonCoord=501;refseq.end=7479301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_198534;refseq.name2=C19orf45;refseq.positionType=CDS;refseq.proteinCoordStr=p.C501C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-36;refseq.start=7479301;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=gatk GT:AD:DP:GL:GQ 0/1:56,33:81:-127.23,-24.40,-196.16:99 chr19 7490654 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.600000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.526G>A;refseq.codonCoord=176;refseq.end=7490654;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=696;refseq.name=NM_018083;refseq.name2=ZNF358;refseq.positionType=CDS;refseq.proteinCoordStr=p.E176K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=564;refseq.start=7490654;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr19 7499048 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.83;MQ0=0;OQ=856.70;QD=13.60;RankSumP=0.722531;SB=-229.89;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.782C>T;refseq.codonCoord=261;refseq.end=7499048;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_020533;refseq.name2=MCOLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T261M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=7499048;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 7499768 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1046A>G;refseq.codonCoord=349;refseq.end=7499768;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1187;refseq.name=NM_020533;refseq.name2=MCOLN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E349G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=62;refseq.start=7499768;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr19 7506853 . T G 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00429585;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.206T>G;refseq.codingCoordStr_2=c.62T>G;refseq.codingCoordStr_3=c.62T>G;refseq.codingCoordStr_4=c.179T>G;refseq.codingCoordStr_5=c.62T>G;refseq.codonCoord_1=69;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.codonCoord_4=60;refseq.codonCoord_5=21;refseq.end_1=7506853;refseq.end_2=7506853;refseq.end_3=7506853;refseq.end_4=7506853;refseq.end_5=7506853;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=446;refseq.mrnaCoord_2=462;refseq.mrnaCoord_3=333;refseq.mrnaCoord_4=265;refseq.mrnaCoord_5=345;refseq.name2_1=PNPLA6;refseq.name2_2=PNPLA6;refseq.name2_3=PNPLA6;refseq.name2_4=PNPLA6;refseq.name2_5=PNPLA6;refseq.name_1=NM_001166111;refseq.name_2=NM_001166112;refseq.name_3=NM_001166113;refseq.name_4=NM_001166114;refseq.name_5=NM_006702;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.V69G;refseq.proteinCoordStr_2=p.V21G;refseq.proteinCoordStr_3=p.V21G;refseq.proteinCoordStr_4=p.V60G;refseq.proteinCoordStr_5=p.V21G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.spliceDist_1=-54;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=-54;refseq.spliceDist_5=35;refseq.start_1=7506853;refseq.start_2=7506853;refseq.start_3=7506853;refseq.start_4=7506853;refseq.start_5=7506853;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;set=FilteredInAll GT 1/0 chr19 7511566 . C T 181.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=683;Dels=0.00;HRun=0;HaplotypeScore=8.60;MQ=98.58;MQ0=0;OQ=13125.12;QD=19.22;RankSumP=0.0340150;SB=-4238.50;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.792C>T;refseq.codingCoordStr_2=c.648C>T;refseq.codingCoordStr_3=c.648C>T;refseq.codingCoordStr_4=c.765C>T;refseq.codingCoordStr_5=c.648C>T;refseq.codonCoord_1=264;refseq.codonCoord_2=216;refseq.codonCoord_3=216;refseq.codonCoord_4=255;refseq.codonCoord_5=216;refseq.end_1=7511566;refseq.end_2=7511566;refseq.end_3=7511566;refseq.end_4=7511566;refseq.end_5=7511566;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1032;refseq.mrnaCoord_2=1048;refseq.mrnaCoord_3=919;refseq.mrnaCoord_4=851;refseq.mrnaCoord_5=931;refseq.name2_1=PNPLA6;refseq.name2_2=PNPLA6;refseq.name2_3=PNPLA6;refseq.name2_4=PNPLA6;refseq.name2_5=PNPLA6;refseq.name_1=NM_001166111;refseq.name_2=NM_001166112;refseq.name_3=NM_001166113;refseq.name_4=NM_001166114;refseq.name_5=NM_006702;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N264N;refseq.proteinCoordStr_2=p.N216N;refseq.proteinCoordStr_3=p.N216N;refseq.proteinCoordStr_4=p.N255N;refseq.proteinCoordStr_5=p.N216N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.start_1=7511566;refseq.start_2=7511566;refseq.start_3=7511566;refseq.start_4=7511566;refseq.start_5=7511566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 0/1 chr19 7524800 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.2330A>C;refseq.codingCoordStr_2=c.2105A>C;refseq.codingCoordStr_3=c.2186A>C;refseq.codingCoordStr_4=c.2300A>C;refseq.codingCoordStr_5=c.2186A>C;refseq.codonCoord_1=777;refseq.codonCoord_2=702;refseq.codonCoord_3=729;refseq.codonCoord_4=767;refseq.codonCoord_5=729;refseq.end_1=7524800;refseq.end_2=7524800;refseq.end_3=7524800;refseq.end_4=7524800;refseq.end_5=7524800;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2570;refseq.mrnaCoord_2=2505;refseq.mrnaCoord_3=2457;refseq.mrnaCoord_4=2386;refseq.mrnaCoord_5=2469;refseq.name2_1=PNPLA6;refseq.name2_2=PNPLA6;refseq.name2_3=PNPLA6;refseq.name2_4=PNPLA6;refseq.name2_5=PNPLA6;refseq.name_1=NM_001166111;refseq.name_2=NM_001166112;refseq.name_3=NM_001166113;refseq.name_4=NM_001166114;refseq.name_5=NM_006702;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N777T;refseq.proteinCoordStr_2=p.N702T;refseq.proteinCoordStr_3=p.N729T;refseq.proteinCoordStr_4=p.N767T;refseq.proteinCoordStr_5=p.N729T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=43;refseq.spliceDist_2=40;refseq.spliceDist_3=43;refseq.spliceDist_4=40;refseq.spliceDist_5=43;refseq.start_1=7524800;refseq.start_2=7524800;refseq.start_3=7524800;refseq.start_4=7524800;refseq.start_5=7524800;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=FilteredInAll GT 0/1 chr19 7579111 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.802A>C;refseq.codingCoordStr_2=c.721A>C;refseq.codonCoord_1=268;refseq.codonCoord_2=241;refseq.end_1=7579111;refseq.end_2=7579111;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=903;refseq.mrnaCoord_2=822;refseq.name2_1=KIAA1543;refseq.name2_2=KIAA1543;refseq.name_1=NM_001080429;refseq.name_2=NM_020902;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T268P;refseq.proteinCoordStr_2=p.T241P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=7579111;refseq.start_2=7579111;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 7581369 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=252;Dels=0.00;HRun=2;HaplotypeScore=7.61;MQ=98.19;MQ0=0;OQ=4494.70;QD=17.84;RankSumP=0.0743760;SB=-1637.82;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.849C>T;refseq.codingCoordStr_2=c.768C>T;refseq.codonCoord_1=283;refseq.codonCoord_2=256;refseq.end_1=7581369;refseq.end_2=7581369;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=869;refseq.name2_1=KIAA1543;refseq.name2_2=KIAA1543;refseq.name_1=NM_001080429;refseq.name_2=NM_020902;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C283C;refseq.proteinCoordStr_2=p.C256C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=7581369;refseq.start_2=7581369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr19 7583348 . G A 25.34 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=96.66;MQ0=0;QD=4.22;RankSumP=0.100000;SB=-33.51;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2050G>A;refseq.codingCoordStr_2=c.1969G>A;refseq.codonCoord_1=684;refseq.codonCoord_2=657;refseq.end_1=7583348;refseq.end_2=7583348;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2151;refseq.mrnaCoord_2=2070;refseq.name2_1=KIAA1543;refseq.name2_2=KIAA1543;refseq.name_1=NM_001080429;refseq.name_2=NM_020902;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D684N;refseq.proteinCoordStr_2=p.D657N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-702;refseq.spliceDist_2=-702;refseq.start_1=7583348;refseq.start_2=7583348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 1/0 chr19 7591843 . G A 179.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=593.73;QD=18.55;RankSumP=0.397186;SB=-150.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1860C>T;refseq.codonCoord=620;refseq.end=7591843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1886;refseq.name=NM_020196;refseq.name2=XAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T620T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=80;refseq.start=7591843;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 7598672 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.266A>C;refseq.codonCoord=89;refseq.end=7598672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_020196;refseq.name2=XAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D89A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-59;refseq.start=7598672;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 7600393 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=99.00;MQ0=0;OQ=408.73;QD=10.76;RankSumP=0.536622;SB=-225.87;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.21C>T;refseq.codonCoord=7;refseq.end=7600393;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=47;refseq.name=NM_020196;refseq.name2=XAB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L7L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-31;refseq.start=7600393;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr19 7604320 . C T 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.29;MQ0=0;OQ=181.78;QD=9.09;RankSumP=0.607143;SB=-86.06;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=7604320;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_174895;refseq.name2=PCP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T8T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-28;refseq.start=7604320;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 7617221 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.30;MQ0=0;OQ=472.72;QD=11.26;RankSumP=0.747223;SB=-153.30;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1434T>C;refseq.codingCoordStr_2=c.1443T>C;refseq.codonCoord_1=478;refseq.codonCoord_2=481;refseq.end_1=7617221;refseq.end_2=7617221;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1479;refseq.mrnaCoord_2=1488;refseq.name2_1=STXBP2;refseq.name2_2=STXBP2;refseq.name_1=NM_001127396;refseq.name_2=NM_006949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D478D;refseq.proteinCoordStr_2=p.D481D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=7617221;refseq.start_2=7617221;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr19 7618277 . A G 226.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=96.90;MQ0=0;OQ=1961.30;QD=32.15;RankSumP=1.00000;SB=-798.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1567A>G;refseq.codingCoordStr_2=c.1576A>G;refseq.codonCoord_1=523;refseq.codonCoord_2=526;refseq.end_1=7618277;refseq.end_2=7618277;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1612;refseq.mrnaCoord_2=1621;refseq.name2_1=STXBP2;refseq.name2_2=STXBP2;refseq.name_1=NM_001127396;refseq.name_2=NM_006949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I523V;refseq.proteinCoordStr_2=p.I526V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.start_1=7618277;refseq.start_2=7618277;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/1 chr19 7649821 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=419.95;QD=15.00;RankSumP=3.91110e-05;SB=-187.33;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.499A>G;refseq.codonCoord=167;refseq.end=7649821;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=524;refseq.name=NM_174918;refseq.name2=C19orf59;refseq.positionType=CDS;refseq.proteinCoordStr=p.I167V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=12;refseq.start=7649821;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=filterInsoap-gatk GT 0/1 chr19 7653293 . T G 52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=8.68;RankSumP=0.600000;SB=-42.98;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.154T>G;refseq.codingCoordStr_2=c.154T>G;refseq.codingCoordStr_3=c.154T>G;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.codonCoord_3=52;refseq.end_1=7653293;refseq.end_2=7653293;refseq.end_3=7653293;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=315;refseq.mrnaCoord_2=224;refseq.mrnaCoord_3=341;refseq.name2_1=TRAPPC5;refseq.name2_2=TRAPPC5;refseq.name2_3=TRAPPC5;refseq.name_1=NM_001042461;refseq.name_2=NM_001042462;refseq.name_3=NM_174894;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S52A;refseq.proteinCoordStr_2=p.S52A;refseq.proteinCoordStr_3=p.S52A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=166;refseq.spliceDist_2=166;refseq.spliceDist_3=166;refseq.start_1=7653293;refseq.start_2=7653293;refseq.start_3=7653293;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=soap-filterIngatk GT 1/0 chr19 7660294 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00141228;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.751A>C;refseq.codonCoord=251;refseq.end=7660294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_002002;refseq.name2=FCER2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T251P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=23;refseq.start=7660294;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 7716421 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0179557;SecondBestBaseQ=29;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_5=c.599A>G;refseq.codingCoordStr_6=c.659A>G;refseq.codingCoordStr_7=c.731A>G;refseq.codingCoordStr_8=c.731A>G;refseq.codonCoord_5=200;refseq.codonCoord_6=220;refseq.codonCoord_7=244;refseq.codonCoord_8=244;refseq.end_1=7716669;refseq.end_2=7716669;refseq.end_3=7716876;refseq.end_4=7716421;refseq.end_5=7716421;refseq.end_6=7716421;refseq.end_7=7716421;refseq.end_8=7716421;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_4=*;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_4=898;refseq.mrnaCoord_5=666;refseq.mrnaCoord_6=726;refseq.mrnaCoord_7=798;refseq.mrnaCoord_8=798;refseq.name2_1=CD209;refseq.name2_2=CD209;refseq.name2_3=CD209;refseq.name2_4=CD209;refseq.name2_5=CD209;refseq.name2_6=CD209;refseq.name2_7=CD209;refseq.name2_8=CD209;refseq.name_1=NM_001144893;refseq.name_2=NM_001144895;refseq.name_3=NM_001144899;refseq.name_4=NR_026692;refseq.name_5=NM_001144894;refseq.name_6=NM_001144896;refseq.name_7=NM_001144897;refseq.name_8=NM_021155;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=non_coding_exon;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_5=p.Q200R;refseq.proteinCoordStr_6=p.Q220R;refseq.proteinCoordStr_7=p.Q244R;refseq.proteinCoordStr_8=p.Q244R;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceAA_8=Gln;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.referenceCodon_7=CAG;refseq.referenceCodon_8=CAG;refseq.spliceDist_4=-18;refseq.spliceDist_5=-18;refseq.spliceDist_6=-18;refseq.spliceDist_7=-18;refseq.spliceDist_8=-18;refseq.start_1=7715989;refseq.start_2=7715989;refseq.start_3=7715989;refseq.start_4=7716421;refseq.start_5=7716421;refseq.start_6=7716421;refseq.start_7=7716421;refseq.start_8=7716421;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantCodon_5=CGG;refseq.variantCodon_6=CGG;refseq.variantCodon_7=CGG;refseq.variantCodon_8=CGG;set=FilteredInAll GT 1/0 chr19 7716835 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.448254;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_3=c.185A>G;refseq.codingCoordStr_4=c.185A>G;refseq.codingCoordStr_5=c.317A>G;refseq.codingCoordStr_6=c.245A>G;refseq.codingCoordStr_7=c.317A>G;refseq.codingCoordStr_8=c.317A>G;refseq.codonCoord_3=62;refseq.codonCoord_4=62;refseq.codonCoord_5=106;refseq.codonCoord_6=82;refseq.codonCoord_7=106;refseq.codonCoord_8=106;refseq.end_1=7716876;refseq.end_2=7716835;refseq.end_3=7716835;refseq.end_4=7716835;refseq.end_5=7716835;refseq.end_6=7716835;refseq.end_7=7716835;refseq.end_8=7716835;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_2=484;refseq.mrnaCoord_3=252;refseq.mrnaCoord_4=252;refseq.mrnaCoord_5=384;refseq.mrnaCoord_6=312;refseq.mrnaCoord_7=384;refseq.mrnaCoord_8=384;refseq.name2_1=CD209;refseq.name2_2=CD209;refseq.name2_3=CD209;refseq.name2_4=CD209;refseq.name2_5=CD209;refseq.name2_6=CD209;refseq.name2_7=CD209;refseq.name2_8=CD209;refseq.name_1=NM_001144899;refseq.name_2=NR_026692;refseq.name_3=NM_001144893;refseq.name_4=NM_001144894;refseq.name_5=NM_001144895;refseq.name_6=NM_001144896;refseq.name_7=NM_001144897;refseq.name_8=NM_021155;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_3=p.Q62R;refseq.proteinCoordStr_4=p.Q62R;refseq.proteinCoordStr_5=p.Q106R;refseq.proteinCoordStr_6=p.Q82R;refseq.proteinCoordStr_7=p.Q106R;refseq.proteinCoordStr_8=p.Q106R;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceAA_8=Gln;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.referenceCodon_7=CAG;refseq.referenceCodon_8=CAG;refseq.spliceDist_2=139;refseq.spliceDist_3=139;refseq.spliceDist_4=139;refseq.spliceDist_5=139;refseq.spliceDist_6=139;refseq.spliceDist_7=139;refseq.spliceDist_8=139;refseq.start_1=7715989;refseq.start_2=7716835;refseq.start_3=7716835;refseq.start_4=7716835;refseq.start_5=7716835;refseq.start_6=7716835;refseq.start_7=7716835;refseq.start_8=7716835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantAA_7=Arg;refseq.variantAA_8=Arg;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;refseq.variantCodon_6=CGG;refseq.variantCodon_7=CGG;refseq.variantCodon_8=CGG;set=FilteredInAll GT 1/0 chr19 7819974 . T C 289.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1278.16;QD=35.50;RankSumP=1.00000;SB=-349.14;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.495T>C;refseq.codingCoordStr_2=c.495T>C;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=7819974;refseq.end_2=7819974;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=538;refseq.mrnaCoord_2=649;refseq.name2_1=EVI5L;refseq.name2_2=EVI5L;refseq.name_1=NM_001159944;refseq.name_2=NM_145245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H165H;refseq.proteinCoordStr_2=p.H165H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=7819974;refseq.start_2=7819974;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 7822620 . A G 76.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=3.95;MQ=98.77;MQ0=0;OQ=876.10;QD=33.70;RankSumP=1.00000;SB=-453.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.951A>G;refseq.codingCoordStr_2=c.951A>G;refseq.codonCoord_1=317;refseq.codonCoord_2=317;refseq.end_1=7822620;refseq.end_2=7822620;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=994;refseq.mrnaCoord_2=1105;refseq.name2_1=EVI5L;refseq.name2_2=EVI5L;refseq.name_1=NM_001159944;refseq.name_2=NM_145245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A317A;refseq.proteinCoordStr_2=p.A317A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=7822620;refseq.start_2=7822620;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 7834462 . T C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1270.00;QD=36.29;RankSumP=1.00000;SB=-545.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2292T>C;refseq.codingCoordStr_2=c.2259T>C;refseq.codonCoord_1=764;refseq.codonCoord_2=753;refseq.end_1=7834462;refseq.end_2=7834462;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2335;refseq.mrnaCoord_2=2413;refseq.name2_1=EVI5L;refseq.name2_2=EVI5L;refseq.name_1=NM_001159944;refseq.name_2=NM_145245;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y764Y;refseq.proteinCoordStr_2=p.Y753Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=153;refseq.spliceDist_2=153;refseq.start_1=7834462;refseq.start_2=7834462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr19 7869914 . A C 189.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=98.98;MQ0=0;OQ=6544.80;QD=34.81;RankSumP=1.00000;SB=-1063.82;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.507A>C;refseq.codonCoord=169;refseq.end=7869914;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_025061;refseq.name2=LRRC8E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V169V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=369;refseq.start=7869914;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 7870616 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=3;HaplotypeScore=4.37;MQ=98.03;MQ0=0;OQ=1404.39;QD=21.28;RankSumP=0.398741;SB=-506.39;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1209G>C;refseq.codonCoord=403;refseq.end=7870616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1310;refseq.name=NM_025061;refseq.name2=LRRC8E;refseq.positionType=CDS;refseq.proteinCoordStr=p.T403T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=1071;refseq.start=7870616;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr19 7892638 . C G 240.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.30;MQ0=0;OQ=1896.11;QD=15.29;RankSumP=0.135339;SB=-666.28;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.352C>G;refseq.codonCoord_2=118;refseq.end_1=7892638;refseq.end_2=7892638;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=307;refseq.mrnaCoord_2=410;refseq.name2_1=SNAPC2;refseq.name2_2=SNAPC2;refseq.name_1=NR_030717;refseq.name_2=NM_003083;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L118V;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=7892638;refseq.start_2=7892638;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr19 7898126 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=97.00;MQ0=0;OQ=594.09;QD=12.91;RankSumP=0.0303742;SB=-105.59;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1305C>T;refseq.codonCoord=435;refseq.end=7898126;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1477;refseq.name=NM_006351;refseq.name2=TIMM44;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y435Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=66;refseq.start=7898126;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr19 7906001 . C T 195.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=97.10;MQ0=0;OQ=2125.32;QD=14.56;RankSumP=0.243238;SB=-950.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.342G>A;refseq.codonCoord=114;refseq.end=7906001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=514;refseq.name=NM_006351;refseq.name2=TIMM44;refseq.positionType=CDS;refseq.proteinCoordStr=p.T114T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=30;refseq.start=7906001;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 7912052 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.76T>C;refseq.codonCoord=26;refseq.end=7912052;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_006351;refseq.name2=TIMM44;refseq.positionType=CDS;refseq.proteinCoordStr=p.S26P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=31;refseq.start=7912052;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 7934544 . A G 172.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=98.62;MQ0=0;OQ=8694.99;QD=14.54;RankSumP=0.374779;SB=-2934.63;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.804T>C;refseq.codonCoord=268;refseq.end=7934544;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_001419;refseq.name2=ELAVL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G268G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=148;refseq.start=7934544;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr19 8027360 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=9.20;MQ=98.90;MQ0=0;OQ=1619.22;QD=10.45;RankSumP=0.223235;SB=-597.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.302A>G;refseq.codonCoord=101;refseq.end=8027360;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_005624;refseq.name2=CCL25;refseq.positionType=CDS;refseq.proteinCoordStr=p.H101R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-24;refseq.start=8027360;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr19 8028737 . G A 142.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=98.96;MQ0=0;OQ=6297.81;QD=23.33;RankSumP=0.210899;SB=-645.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.378G>A;refseq.codonCoord=126;refseq.end=8028737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_005624;refseq.name2=CCL25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S126S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=53;refseq.start=8028737;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr19 8028767 . T C 201.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=479;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=98.94;MQ0=0;OQ=19869.54;QD=41.48;RankSumP=1.00000;SB=-6187.66;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.408T>C;refseq.codonCoord=136;refseq.end=8028767;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_005624;refseq.name2=CCL25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S136S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-38;refseq.start=8028767;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr19 8044054 . C A 135.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.17;MQ0=0;OQ=1100.57;QD=13.59;RankSumP=0.422747;SB=-281.27;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7830G>T;refseq.codonCoord=2610;refseq.end=8044054;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7851;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2610D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-108;refseq.start=8044054;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 8051921 . C T 168.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.13;MQ0=0;OQ=465.57;QD=16.63;RankSumP=0.746069;SB=-211.21;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.7419G>A;refseq.codonCoord=2473;refseq.end=8051921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7440;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2473P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-35;refseq.start=8051921;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 8051935 . T G 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=3.58634e-05;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7405A>C;refseq.codonCoord=2469;refseq.end=8051935;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7426;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2469P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-49;refseq.start=8051935;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 8058725 . A G 107.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.96;MQ0=0;OQ=1061.98;QD=12.79;RankSumP=0.334252;SB=-230.63;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.6603T>C;refseq.codonCoord=2201;refseq.end=8058725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6624;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2201D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-17;refseq.start=8058725;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 8065362 . G T 239.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.43;MQ0=0;OQ=1662.73;QD=18.47;RankSumP=0.136052;SB=-462.18;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.5873C>A;refseq.codonCoord=1958;refseq.end=8065362;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5894;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1958H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-33;refseq.start=8065362;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr19 8065409 . G T 436.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=98.66;MQ0=0;OQ=5759.21;QD=36.92;RankSumP=1.00000;SB=-2163.68;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.5826C>A;refseq.codonCoord=1942;refseq.end=8065409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5847;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1942P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=41;refseq.start=8065409;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 8066334 . G A 143.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.90;MQ0=0;OQ=1379.52;QD=16.62;RankSumP=0.399202;SB=-672.64;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.5710C>T;refseq.codonCoord=1904;refseq.end=8066334;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5731;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1904F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=54;refseq.start=8066334;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 8067450 . C T 358.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=302;Dels=0.00;HRun=0;HaplotypeScore=6.21;MQ=98.70;MQ0=0;OQ=6252.88;QD=20.70;RankSumP=0.146166;SB=-2182.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.5417G>A;refseq.codonCoord=1806;refseq.end=8067450;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5438;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1806Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=8067450;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 8080220 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=383;Dels=0.00;HRun=1;HaplotypeScore=23.41;MQ=98.88;MQ0=0;OQ=6469.62;QD=16.89;RankSumP=0.0956787;SB=-1652.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4509C>A;refseq.codonCoord=1503;refseq.end=8080220;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4530;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1503G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=53;refseq.start=8080220;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr19 8082009 . C T 263.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.58;MQ0=0;OQ=2067.32;QD=15.31;RankSumP=0.0344542;SB=-865.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4143G>A;refseq.codonCoord=1381;refseq.end=8082009;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4164;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1381A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=59;refseq.start=8082009;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr19 8082569 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=98.29;MQ0=0;OQ=771.48;QD=15.13;RankSumP=0.134649;SB=-171.68;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4047C>T;refseq.codonCoord=1349;refseq.end=8082569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4068;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1349C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-38;refseq.start=8082569;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 8082640 . C T 188.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=98.61;MQ0=0;OQ=1960.29;QD=13.71;RankSumP=0.177434;SB=-923.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3976G>A;refseq.codonCoord=1326;refseq.end=8082640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3997;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1326I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=15;refseq.start=8082640;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr19 8082919 . C T 268.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.51;MQ0=0;OQ=1741.61;QD=17.07;RankSumP=0.423660;SB=-876.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3903G>A;refseq.codonCoord=1301;refseq.end=8082919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3924;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1301P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-59;refseq.start=8082919;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 8097401 . G A 157.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=289.45;QD=16.08;RankSumP=0.691608;SB=-157.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2505C>T;refseq.codonCoord=835;refseq.end=8097401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2526;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C835C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-50;refseq.start=8097401;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 8102444 . C T 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=119;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=98.63;MQ0=0;OQ=4671.07;QD=39.25;RankSumP=1.00000;SB=-1848.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1984G>A;refseq.codonCoord=662;refseq.end=8102444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2005;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D662N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=8102444;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr19 8102499 . G A 207.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=98.62;MQ0=0;OQ=2077.07;QD=17.60;RankSumP=0.220649;SB=-953.24;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1929C>T;refseq.codonCoord=643;refseq.end=8102499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1950;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C643C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-62;refseq.start=8102499;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 8102694 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=65;Dels=0.00;HRun=0;HaplotypeScore=8.42;MQ=97.52;MQ0=0;OQ=928.80;QD=14.29;RankSumP=0.170885;SB=-250.26;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1734G>A;refseq.codonCoord=578;refseq.end=8102694;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1755;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T578T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=20;refseq.start=8102694;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 8109328 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=98.55;MQ0=0;OQ=1586.47;QD=11.50;RankSumP=0.255551;SB=-763.76;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.986C>T;refseq.codonCoord=329;refseq.end=8109328;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_032447;refseq.name2=FBN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P329L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-33;refseq.start=8109328;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 8227946 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.68;MQ0=0;OQ=951.09;QD=11.19;RankSumP=0.0891171;SB=-382.26;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.726T>C;refseq.codonCoord=242;refseq.end=8227946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1046;refseq.name=NM_024552;refseq.name2=LASS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S242S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-16;refseq.start=8227946;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 8232904 . G A 123.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=662.08;QD=31.53;RankSumP=1.00000;SB=-152.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1096G>A;refseq.codonCoord=366;refseq.end=8232904;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1416;refseq.name=NM_024552;refseq.name2=LASS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A366T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=91;refseq.start=8232904;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr19 8282431 . G A 157.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.31;MQ0=0;OQ=935.89;QD=14.62;RankSumP=0.615087;SB=-429.77;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.300C>T;refseq.codonCoord=100;refseq.end=8282431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_005001;refseq.name2=NDUFA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P100P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=49;refseq.start=8282431;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 8295520 . C T 110.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=544.48;QD=21.78;RankSumP=0.621718;SB=-75.29;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2277G>A;refseq.codonCoord=759;refseq.end=8295520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2343;refseq.name=NM_198471;refseq.name2=KANK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L759L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=8295520;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr19 8304975 . C T 125.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.08;MQ0=0;OQ=76.91;QD=15.38;RankSumP=1.00000;SB=-52.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1453G>A;refseq.codonCoord=485;refseq.end=8304975;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1519;refseq.name=NM_198471;refseq.name2=KANK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A485T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=26;refseq.start=8304975;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/1 chr19 8305628 . A G 6.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=91.45;QD=30.48;RankSumP=1.00000;SB=-54.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1083T>C;refseq.codonCoord=361;refseq.end=8305628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1149;refseq.name=NM_198471;refseq.name2=KANK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S361S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-245;refseq.start=8305628;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/1 chr19 8305635 . C T 46.14 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.07;RankSumP=1.00000;SB=-48.56;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1076G>A;refseq.codonCoord=359;refseq.end=8305635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1142;refseq.name=NM_198471;refseq.name2=KANK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R359H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-252;refseq.start=8305635;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 1/1 chr19 8305849 . C A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.66;MQ0=0;OQ=67.58;QD=2.94;RankSumP=0.0740970;SB=11.05;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.862G>T;refseq.codonCoord=288;refseq.end=8305849;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=928;refseq.name=NM_198471;refseq.name2=KANK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D288Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-466;refseq.start=8305849;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 8392884 . G A 203.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.64;MQ0=0;OQ=6512.55;QD=19.10;RankSumP=0.0550079;SB=-2239.37;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.160G>A;refseq.codingCoordStr_2=c.160G>A;refseq.codingCoordStr_3=c.160G>A;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.end_1=8392884;refseq.end_2=8392884;refseq.end_3=8392884;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=330;refseq.mrnaCoord_2=330;refseq.mrnaCoord_3=601;refseq.name2_1=MARCH2;refseq.name2_2=MARCH2;refseq.name2_3=MARCH2;refseq.name_1=NM_001005415;refseq.name_2=NM_001005416;refseq.name_3=NM_016496;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A54T;refseq.proteinCoordStr_2=p.A54T;refseq.proteinCoordStr_3=p.A54T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.start_1=8392884;refseq.start_2=8392884;refseq.start_3=8392884;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/0 chr19 8437172 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=621;Dels=0.00;HRun=2;HaplotypeScore=79.68;MQ=98.26;MQ0=0;OQ=81.35;QD=0.13;RankSumP=0.00000;SB=986.16;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.684T>G;refseq.codingCoordStr_2=c.567T>G;refseq.codonCoord_1=228;refseq.codonCoord_2=189;refseq.end_1=8437172;refseq.end_2=8437172;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=764;refseq.mrnaCoord_2=647;refseq.name2_1=HNRNPM;refseq.name2_2=HNRNPM;refseq.name_1=NM_005968;refseq.name_2=NM_031203;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G228G;refseq.proteinCoordStr_2=p.G189G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=8437172;refseq.start_2=8437172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 8457094 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=2.22;MQ=97.27;MQ0=0;OQ=1693.50;QD=31.95;RankSumP=1.00000;SB=-867.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1782T>C;refseq.codingCoordStr_2=c.1665T>C;refseq.codonCoord_1=594;refseq.codonCoord_2=555;refseq.end_1=8457094;refseq.end_2=8457094;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1862;refseq.mrnaCoord_2=1745;refseq.name2_1=HNRNPM;refseq.name2_2=HNRNPM;refseq.name_1=NM_005968;refseq.name_2=NM_031203;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P594P;refseq.proteinCoordStr_2=p.P555P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-196;refseq.spliceDist_2=-196;refseq.start_1=8457094;refseq.start_2=8457094;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr19 8459630 . C T 204.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=376;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=98.50;MQ0=0;OQ=14776.44;QD=39.30;RankSumP=1.00000;SB=-5584.26;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2085C>T;refseq.codingCoordStr_2=c.1968C>T;refseq.codonCoord_1=695;refseq.codonCoord_2=656;refseq.end_1=8459630;refseq.end_2=8459630;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2165;refseq.mrnaCoord_2=2048;refseq.name2_1=HNRNPM;refseq.name2_2=HNRNPM;refseq.name_1=NM_005968;refseq.name_2=NM_031203;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G695G;refseq.proteinCoordStr_2=p.G656G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=8459630;refseq.start_2=8459630;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr19 8484035 . T C 21.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=97.74;MQ0=0;OQ=165.83;QD=18.43;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.194A>G;refseq.codingCoordStr_2=c.194A>G;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=8484035;refseq.end_2=8484035;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=312;refseq.mrnaCoord_2=312;refseq.name2_1=ZNF414;refseq.name2_2=ZNF414;refseq.name_1=NM_001146175;refseq.name_2=NM_032370;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q65R;refseq.proteinCoordStr_2=p.Q65R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-123;refseq.spliceDist_2=-123;refseq.start_1=8484035;refseq.start_2=8484035;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=filterInsoap-gatk GT 1/1 chr19 8519133 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=201;Dels=0.00;HRun=2;HaplotypeScore=4.58;MQ=99.00;MQ0=0;OQ=3221.30;QD=16.03;RankSumP=0.000287814;SB=-1222.76;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1170C>T;refseq.codonCoord=390;refseq.end=8519133;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1284;refseq.name=NM_012335;refseq.name2=MYO1F;refseq.positionType=CDS;refseq.proteinCoordStr=p.F390F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-13;refseq.start=8519133;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=filterInsoap-gatk GT 1/0 chr19 8524034 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.493T>C;refseq.codonCoord=165;refseq.end=8524034;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_012335;refseq.name2=MYO1F;refseq.positionType=CDS;refseq.proteinCoordStr=p.S165P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-12;refseq.start=8524034;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 8551786 . A C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=3.78;MQ=97.82;MQ0=0;OQ=1735.85;QD=31.56;RankSumP=1.00000;SB=-242.04;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3303T>G;refseq.codonCoord=1101;refseq.end=8551786;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3577;refseq.name=NM_030957;refseq.name2=ADAMTS10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1101Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=101;refseq.start=8551786;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 8557269 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.000261107;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2489A>C;refseq.codonCoord=830;refseq.end=8557269;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2763;refseq.name=NM_030957;refseq.name2=ADAMTS10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H830P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-42;refseq.start=8557269;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 8557562 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=241;Dels=0.00;HRun=2;HaplotypeScore=11.77;MQ=98.81;MQ0=0;OQ=2110.96;QD=8.76;RankSumP=0.0694020;SB=-804.72;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2283T>C;refseq.codonCoord=761;refseq.end=8557562;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2557;refseq.name=NM_030957;refseq.name2=ADAMTS10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P761P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=44;refseq.start=8557562;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr19 8575931 . G C 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=97.05;MQ0=0;OQ=323.48;QD=9.80;RankSumP=0.439089;SB=-128.66;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.401C>G;refseq.codonCoord=134;refseq.end=8575931;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_030957;refseq.name2=ADAMTS10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T134S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-35;refseq.start=8575931;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr19 8669373 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=97.93;MQ0=0;OQ=855.21;QD=13.16;RankSumP=0.405583;SB=-437.19;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.679C>A;refseq.codonCoord=227;refseq.end=8669373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_178525;refseq.name2=ACTL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H227N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-623;refseq.start=8669373;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr19 8669900 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=20.53;MQ=97.55;MQ0=0;OQ=2425.84;QD=9.48;RankSumP=0.0395791;SB=-610.42;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.152T>C;refseq.codonCoord=51;refseq.end=8669900;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_178525;refseq.name2=ACTL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V51A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=273;refseq.start=8669900;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 8669942 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=171;Dels=0.00;HRun=4;HaplotypeScore=12.19;MQ=97.65;MQ0=0;OQ=2153.24;QD=12.59;RankSumP=0.0700174;SB=-357.30;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.110T>C;refseq.codonCoord=37;refseq.end=8669942;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_178525;refseq.name2=ACTL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.F37S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=231;refseq.start=8669942;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 8702558 . T C 171.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=505;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=98.80;MQ0=0;OQ=20232.50;QD=40.06;RankSumP=1.00000;SB=-9188.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.168T>C;refseq.codonCoord=56;refseq.end=8702558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_001004699;refseq.name2=OR2Z1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H56H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=168;refseq.start=8702558;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 8814801 . T C 426.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=4345.56;QD=41.00;RankSumP=1.00000;SB=-1540.65;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.447T>C;refseq.codonCoord=149;refseq.end=8814801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=533;refseq.name=NM_145208;refseq.name2=MBD3L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V149V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-216;refseq.start=8814801;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 8814922 . C T 411.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=6528.42;QD=41.85;RankSumP=1.00000;SB=-1380.25;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.568C>T;refseq.codonCoord=190;refseq.end=8814922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=654;refseq.name=NM_145208;refseq.name2=MBD3L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R190C;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-95;refseq.start=8814922;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr19 9065307 . A G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=448;Dels=0.00;HRun=0;HaplotypeScore=17.13;MQ=98.30;MQ0=0;OQ=15693.24;QD=35.03;RankSumP=1.00000;SB=-5355.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=9065307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_001004456;refseq.name2=OR1M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P129P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=387;refseq.start=9065307;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 9065533 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.613A>G;refseq.codonCoord=205;refseq.end=9065533;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=613;refseq.name=NM_001004456;refseq.name2=OR1M1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M205V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-330;refseq.start=9065533;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr19 9074026 . T C 144.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=2;HaplotypeScore=8.15;MQ=98.89;MQ0=0;OQ=5269.41;QD=20.35;RankSumP=0.160212;SB=-1851.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.957A>G;refseq.codonCoord=319;refseq.end=9074026;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=957;refseq.name=NM_001005193;refseq.name2=OR7G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K319K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-82;refseq.start=9074026;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr19 9074079 . A C 268.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=265;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=98.38;MQ0=0;OQ=4484.02;QD=16.92;RankSumP=0.130932;SB=-1525.15;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.904T>G;refseq.codonCoord=302;refseq.end=9074079;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=904;refseq.name=NM_001005193;refseq.name2=OR7G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F302V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-135;refseq.start=9074079;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 9074132 . A G 295.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=15.38;MQ=98.70;MQ0=0;OQ=5049.73;QD=18.36;RankSumP=0.171347;SB=-2113.85;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.851T>C;refseq.codonCoord=284;refseq.end=9074132;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_001005193;refseq.name2=OR7G2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V284A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-188;refseq.start=9074132;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 9086685 . T C 345.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=5.01;MQ=98.56;MQ0=0;OQ=2745.10;QD=17.48;RankSumP=0.0843500;SB=-1389.72;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.755A>G;refseq.codonCoord=252;refseq.end=9086685;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_001005192;refseq.name2=OR7G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y252C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-162;refseq.start=9086685;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 9087017 . C G 332.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=12.61;MQ=98.76;MQ0=0;OQ=6823.20;QD=20.49;RankSumP=0.110721;SB=-2485.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.423G>C;refseq.codonCoord=141;refseq.end=9087017;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_001005192;refseq.name2=OR7G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W141C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=423;refseq.start=9087017;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr19 9087192 . A G 114.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=816;Dels=0.00;HRun=0;HaplotypeScore=18.35;MQ=98.90;MQ0=0;OQ=15990.31;QD=19.60;RankSumP=0.154725;SB=-4601.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.248T>C;refseq.codonCoord=83;refseq.end=9087192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_001005192;refseq.name2=OR7G1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V83A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=248;refseq.start=9087192;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 9097886 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=99.00;MQ0=0;OQ=1570.91;QD=14.41;RankSumP=0.151067;SB=-375.26;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.741T>C;refseq.codonCoord=247;refseq.end=9097886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=741;refseq.name=NM_001001958;refseq.name2=OR7G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V247V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-199;refseq.start=9097886;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 9098435 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=505;Dels=0.00;HRun=1;HaplotypeScore=7.88;MQ=98.71;MQ0=0;OQ=10511.32;QD=20.81;RankSumP=0.0129295;SB=-4498.13;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=9098435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_001001958;refseq.name2=OR7G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S64S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=192;refseq.start=9098435;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 9098542 . T C 302.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=7.80;MQ=97.83;MQ0=0;OQ=3877.17;QD=18.64;RankSumP=0.310247;SB=-844.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.85A>G;refseq.codonCoord=29;refseq.end=9098542;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=85;refseq.name=NM_001001958;refseq.name2=OR7G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M29V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=85;refseq.start=9098542;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 9157664 . T C 185.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=97.75;MQ0=1;OQ=7811.34;QD=17.17;RankSumP=0.447870;SB=-2864.24;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.207T>C;refseq.codonCoord=69;refseq.end=9157664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_175883;refseq.name2=OR7D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=395;refseq.start=9157664;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 9274152 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=9274152;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_198535;refseq.name2=ZNF699;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=9274152;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 9310897 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.62T>G;refseq.codonCoord_2=21;refseq.end_1=9327322;refseq.end_2=9310897;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=710;refseq.name2_1=ZNF177;refseq.name2_2=ZNF559;refseq.name_1=NM_001172650;refseq.name_2=NM_032497;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V21G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=29;refseq.start_1=9310269;refseq.start_2=9310897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 9351814 . C T 431.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.88;MQ0=0;OQ=6710.04;QD=42.74;RankSumP=1.00000;SB=-2206.31;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.335C>T;refseq.codingCoordStr_2=c.335C>T;refseq.codingCoordStr_3=c.335C>T;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=9351814;refseq.end_2=9351814;refseq.end_3=9351814;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=960;refseq.mrnaCoord_2=496;refseq.mrnaCoord_3=791;refseq.name2_1=ZNF177;refseq.name2_2=ZNF177;refseq.name2_3=ZNF177;refseq.name_1=NM_001172650;refseq.name_2=NM_001172651;refseq.name_3=NM_003451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T112M;refseq.proteinCoordStr_2=p.T112M;refseq.proteinCoordStr_3=p.T112M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=9351814;refseq.start_2=9351814;refseq.start_3=9351814;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=Intersection GT 1/1 chr19 9353141 . C T 177.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=6.87;MQ=99.00;MQ0=0;OQ=5845.55;QD=43.30;RankSumP=1.00000;SB=-1878.87;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.654C>T;refseq.codingCoordStr_2=c.1134C>T;refseq.codingCoordStr_3=c.654C>T;refseq.codonCoord_1=218;refseq.codonCoord_2=378;refseq.codonCoord_3=218;refseq.end_1=9353141;refseq.end_2=9353141;refseq.end_3=9353141;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1279;refseq.mrnaCoord_2=1295;refseq.mrnaCoord_3=1110;refseq.name2_1=ZNF177;refseq.name2_2=ZNF177;refseq.name2_3=ZNF177;refseq.name_1=NM_001172650;refseq.name_2=NM_001172651;refseq.name_3=NM_003451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I218I;refseq.proteinCoordStr_2=p.I378I;refseq.proteinCoordStr_3=p.I218I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=318;refseq.spliceDist_2=798;refseq.spliceDist_3=318;refseq.start_1=9353141;refseq.start_2=9353141;refseq.start_3=9353141;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 1/1 chr19 9353370 . A T 81.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.47;MQ0=0;OQ=2831.90;QD=39.89;RankSumP=1.00000;SB=-1352.54;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.883A>T;refseq.codingCoordStr_2=c.1363A>T;refseq.codingCoordStr_3=c.883A>T;refseq.codonCoord_1=295;refseq.codonCoord_2=455;refseq.codonCoord_3=295;refseq.end_1=9353370;refseq.end_2=9353370;refseq.end_3=9353370;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1508;refseq.mrnaCoord_2=1524;refseq.mrnaCoord_3=1339;refseq.name2_1=ZNF177;refseq.name2_2=ZNF177;refseq.name2_3=ZNF177;refseq.name_1=NM_001172650;refseq.name_2=NM_001172651;refseq.name_3=NM_003451;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I295F;refseq.proteinCoordStr_2=p.I455F;refseq.proteinCoordStr_3=p.I295F;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=547;refseq.spliceDist_2=-922;refseq.spliceDist_3=547;refseq.start_1=9353370;refseq.start_2=9353370;refseq.start_3=9353370;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr19 9385185 . A G 325.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.45;MQ0=0;OQ=5567.55;QD=40.34;RankSumP=1.00000;SB=-2446.82;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1416T>C;refseq.codingCoordStr_2=c.1416T>C;refseq.codonCoord_1=472;refseq.codonCoord_2=472;refseq.end_1=9385185;refseq.end_2=9385185;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2687;refseq.mrnaCoord_2=2407;refseq.name2_1=ZNF266;refseq.name2_2=ZNF266;refseq.name_1=NM_006631;refseq.name_2=NM_198058;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A472A;refseq.proteinCoordStr_2=p.A472A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-915;refseq.spliceDist_2=-915;refseq.start_1=9385185;refseq.start_2=9385185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr19 9729686 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=151;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=99.00;MQ0=0;OQ=2527.98;QD=16.74;RankSumP=0.131843;SB=-1241.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1067A>T;refseq.codonCoord=356;refseq.end=9729686;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1598;refseq.name=NM_001077624;refseq.name2=ZNF846;refseq.positionType=CDS;refseq.proteinCoordStr=p.H356L;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-536;refseq.start=9729686;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr19 9908022 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=3;RankSumP=0.700000;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.21G>C;refseq.codonCoord=7;refseq.end=9908022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=49;refseq.name=NM_058164;refseq.name2=OLFM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P7P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-43;refseq.start=9908022;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 9950262 . G A 149.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.96;MQ0=0;OQ=2305.54;QD=15.79;RankSumP=0.278587;SB=-1124.53;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3006C>T;refseq.codonCoord=1002;refseq.end=9950262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3092;refseq.name=NM_015719;refseq.name2=COL5A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1002P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-13;refseq.start=9950262;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 9973346 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=2;HaplotypeScore=1.48;MQ=98.82;MQ0=0;OQ=8881.99;QD=40.74;RankSumP=1.00000;SB=-3349.36;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.964A>G;refseq.codonCoord=322;refseq.end=9973346;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_015719;refseq.name2=COL5A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R322G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=9973346;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr19 9977375 . G T 329.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=98.64;MQ0=0;OQ=6854.28;QD=36.85;RankSumP=1.00000;SB=-3055.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.453C>A;refseq.codonCoord=151;refseq.end=9977375;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=539;refseq.name=NM_015719;refseq.name2=COL5A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A151A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=16;refseq.start=9977375;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 9977508 . C T 183.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=99.00;MQ0=0;OQ=457.82;QD=16.35;RankSumP=0.378188;SB=-130.14;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.401G>A;refseq.codonCoord=134;refseq.end=9977508;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_015719;refseq.name2=COL5A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R134H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-37;refseq.start=9977508;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr19 9992999 . T C 260.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=98.50;MQ0=0;OQ=2376.27;QD=14.95;RankSumP=0.380521;SB=-973.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.605T>C;refseq.codonCoord=202;refseq.end=9992999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_015725;refseq.name2=RDH8;refseq.positionType=CDS;refseq.proteinCoordStr=p.M202T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=69;refseq.start=9992999;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr19 10018806 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.60;MQ0=0;OQ=1167.77;QD=15.78;RankSumP=0.388975;SB=-341.80;SecondBestBaseQ=33;refseq.chr=chr19;refseq.end=10018806;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1357;refseq.name=NR_027300;refseq.name2=C3P1;refseq.positionType=non_coding_exon;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=10018806;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr19 10026932 . A G 274.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=5.61;MQ=98.65;MQ0=0;OQ=9001.18;QD=36.15;RankSumP=1.00000;SB=-3224.95;SecondBestBaseQ=0;refseq.chr=chr19;refseq.end=10026932;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1795;refseq.name=NR_027300;refseq.name2=C3P1;refseq.positionType=non_coding_exon;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=10026932;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr19 10027375 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=488;Dels=0.00;HRun=1;HaplotypeScore=17.09;MQ=98.97;MQ0=0;OQ=9587.60;QD=19.65;RankSumP=0.409307;SB=-2668.54;SecondBestBaseQ=33;refseq.chr=chr19;refseq.end=10027375;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1968;refseq.name=NR_027300;refseq.name2=C3P1;refseq.positionType=non_coding_exon;refseq.spliceDist=-63;refseq.start=10027375;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr19 10085526 . C T 101.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.80;MQ0=0;OQ=551.03;QD=18.37;RankSumP=0.364911;SB=-188.70;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1497C>T;refseq.codingCoordStr_2=c.237C>T;refseq.codonCoord_1=499;refseq.codonCoord_2=79;refseq.end_1=10085526;refseq.end_2=10085526;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1497;refseq.mrnaCoord_2=438;refseq.name2_1=PPAN-P2RY11;refseq.name2_2=P2RY11;refseq.name_1=NM_001040664;refseq.name_2=NM_002566;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A499A;refseq.proteinCoordStr_2=p.A79A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=218;refseq.spliceDist_2=218;refseq.start_1=10085526;refseq.start_2=10085526;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr19 10087256 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=97.27;MQ0=0;OQ=1245.16;QD=10.92;RankSumP=0.0323625;SB=-230.49;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.846T>C;refseq.codonCoord=282;refseq.end=10087256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=910;refseq.name=NM_003755;refseq.name2=EIF3G;refseq.positionType=CDS;refseq.proteinCoordStr=p.F282F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=10087256;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr19 10112565 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.66870e-08;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3415C>A;refseq.codingCoordStr_2=c.3367C>A;refseq.codonCoord_1=1139;refseq.codonCoord_2=1123;refseq.end_1=10112565;refseq.end_2=10112565;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3595;refseq.mrnaCoord_2=3547;refseq.name2_1=DNMT1;refseq.name2_2=DNMT1;refseq.name_1=NM_001130823;refseq.name_2=NM_001379;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1139K;refseq.proteinCoordStr_2=p.Q1123K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=10112565;refseq.start_2=10112565;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr19 10126312 . T C 451.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.85;MQ0=0;OQ=5024.15;QD=38.35;RankSumP=1.00000;SB=-1867.94;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1782A>G;refseq.codingCoordStr_2=c.1734A>G;refseq.codonCoord_1=594;refseq.codonCoord_2=578;refseq.end_1=10126312;refseq.end_2=10126312;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1962;refseq.mrnaCoord_2=1914;refseq.name2_1=DNMT1;refseq.name2_2=DNMT1;refseq.name_1=NM_001130823;refseq.name_2=NM_001379;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T594T;refseq.proteinCoordStr_2=p.T578T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=10126312;refseq.start_2=10126312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 10128077 . T C 175.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=20.76;MQ=98.85;MQ0=0;OQ=7394.25;QD=18.49;RankSumP=0.459399;SB=-2876.42;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1389A>G;refseq.codingCoordStr_2=c.1341A>G;refseq.codonCoord_1=463;refseq.codonCoord_2=447;refseq.end_1=10128077;refseq.end_2=10128077;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1569;refseq.mrnaCoord_2=1521;refseq.name2_1=DNMT1;refseq.name2_2=DNMT1;refseq.name_1=NM_001130823;refseq.name_2=NM_001379;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P463P;refseq.proteinCoordStr_2=p.P447P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=10128077;refseq.start_2=10128077;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr19 10195663 . T G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=750.74;QD=28.87;RankSumP=1.00000;SB=-52.57;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.919A>C;refseq.codonCoord=307;refseq.end=10195663;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1030;refseq.name=NM_004230;refseq.name2=S1PR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R307R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=961;refseq.start=10195663;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr19 10231490 . T A 127.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=6.45;MQ=98.13;MQ0=0;OQ=2200.21;QD=13.50;RankSumP=0.394190;SB=-679.34;SecondBestBaseQ=29;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.*1T>A;refseq.codingCoordStr_2=c.*1T>A;refseq.codingCoordStr_3=c.*1076T>A;refseq.end_1=10231490;refseq.end_2=10231490;refseq.end_3=10231490;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=1227;refseq.mrnaCoord_2=1091;refseq.mrnaCoord_3=2158;refseq.name2_1=MRPL4;refseq.name2_2=MRPL4;refseq.name2_3=MRPL4;refseq.name_1=NM_015956;refseq.name_2=NM_146387;refseq.name_3=NM_146388;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=utr3;refseq.spliceDist_1=198;refseq.spliceDist_2=198;refseq.spliceDist_3=-247;refseq.start_1=10231490;refseq.start_2=10231490;refseq.start_3=10231490;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/0 chr19 10255792 . G A 235.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.98;MQ0=0;OQ=2119.87;QD=15.14;RankSumP=0.294393;SB=-685.31;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.721G>A;refseq.codonCoord=241;refseq.end=10255792;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_000201;refseq.name2=ICAM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G241R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=84;refseq.start=10255792;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr19 10256683 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=8.73;MQ=98.50;MQ0=0;OQ=1049.93;QD=12.65;RankSumP=0.140855;SB=-356.18;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1405A>G;refseq.codonCoord=469;refseq.end=10256683;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1724;refseq.name=NM_000201;refseq.name2=ICAM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K469E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-22;refseq.start=10256683;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr19 10263938 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=258.66;QD=15.22;RankSumP=0.523180;SB=-89.31;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.901G>A;refseq.codonCoord=301;refseq.end=10263938;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=966;refseq.name=NM_003259;refseq.name2=ICAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V301I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-61;refseq.start=10263938;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr19 10264368 . G A 247.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.70;MQ0=0;OQ=1411.17;QD=19.88;RankSumP=0.292885;SB=-620.66;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1042G>A;refseq.codonCoord=348;refseq.end=10264368;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1107;refseq.name=NM_003259;refseq.name2=ICAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A348T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=81;refseq.start=10264368;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 10282587 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.337A>C;refseq.codonCoord=113;refseq.end=10282587;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=356;refseq.name=NM_001031734;refseq.name2=FDX1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T113P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=30;refseq.start=10282587;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 10287422 . A C 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=7;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=97.63;MQ0=0;OQ=219.71;QD=31.39;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.159T>G;refseq.codonCoord=53;refseq.end=10287422;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_001031734;refseq.name2=FDX1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A53A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=14;refseq.start=10287422;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=filterInsoap-gatk GT 1/1 chr19 10287628 . T C 344.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.40;MQ0=0;OQ=2690.10;QD=34.05;RankSumP=1.00000;SB=-1105.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.45A>G;refseq.codonCoord=15;refseq.end=10287628;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=64;refseq.name=NM_001031734;refseq.name2=FDX1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L15L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=64;refseq.start=10287628;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 10307568 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=97.73;MQ0=0;OQ=1020.65;QD=17.30;RankSumP=0.0805178;SB=-343.68;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.428A>G;refseq.codonCoord=143;refseq.end=10307568;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_002162;refseq.name2=ICAM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D143G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=85;refseq.start=10307568;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 10310358 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=388;Dels=0.00;HRun=1;HaplotypeScore=12.36;MQ=98.75;MQ0=0;OQ=5584.77;QD=14.39;RankSumP=0.496253;SB=-1789.88;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.343A>G;refseq.codonCoord=115;refseq.end=10310358;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_002162;refseq.name2=ICAM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R115G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=10310358;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr19 10310392 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=391;Dels=0.00;HRun=1;HaplotypeScore=17.65;MQ=98.90;MQ0=0;OQ=6608.47;QD=16.90;RankSumP=0.373802;SB=-2406.93;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=10310392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=364;refseq.name=NM_002162;refseq.name2=ICAM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S103S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-35;refseq.start=10310392;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 10328328 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00433868;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2533A>C;refseq.codonCoord=845;refseq.end=10328328;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2911;refseq.name=NM_003331;refseq.name2=TYK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T845P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=67;refseq.start=10328328;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 10461442 . G C 231.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=9.49;MQ=98.83;MQ0=0;OQ=4366.44;QD=21.83;RankSumP=0.152740;SB=-946.66;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1413C>G;refseq.codingCoordStr_2=c.1413C>G;refseq.codonCoord_1=471;refseq.codonCoord_2=471;refseq.end_1=10461442;refseq.end_2=10461442;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1569;refseq.mrnaCoord_2=1598;refseq.name2_1=KEAP1;refseq.name2_2=KEAP1;refseq.name_1=NM_012289;refseq.name_2=NM_203500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L471L;refseq.proteinCoordStr_2=p.L471L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=88;refseq.spliceDist_2=88;refseq.start_1=10461442;refseq.start_2=10461442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr19 10486067 . A C 203.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=1424.46;QD=35.61;RankSumP=1.00000;SB=-428.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.621T>G;refseq.codingCoordStr_2=c.621T>G;refseq.codonCoord_1=207;refseq.codonCoord_2=207;refseq.end_1=10486067;refseq.end_2=10486067;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=692;refseq.name2_1=S1PR5;refseq.name2_2=S1PR5;refseq.name_1=NM_001166215;refseq.name_2=NM_030760;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A207A;refseq.proteinCoordStr_2=p.A207A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=639;refseq.spliceDist_2=639;refseq.start_1=10486067;refseq.start_2=10486067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 10518719 . T G 49 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00280813;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.698T>G;refseq.codonCoord=233;refseq.end=10518719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=818;refseq.name=NM_032885;refseq.name2=ATG4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.V233G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-73;refseq.start=10518719;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 10520659 . C T 285.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=97.92;MQ0=0;OQ=2068.35;QD=17.83;RankSumP=0.0814020;SB=-852.95;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.915C>T;refseq.codonCoord=305;refseq.end=10520659;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_032885;refseq.name2=ATG4D;refseq.positionType=CDS;refseq.proteinCoordStr=p.P305P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-52;refseq.start=10520659;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 10523838 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.end_1=10523870;refseq.end_2=10523838;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=41;refseq.name2_1=ATG4D;refseq.name2_2=MIR1238;refseq.name_1=NM_032885;refseq.name_2=NR_031603;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=41;refseq.start_1=10523808;refseq.start_2=10523838;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 10529452 . A G 199.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.10;MQ0=0;OQ=2531.84;QD=31.65;RankSumP=1.00000;SB=-455.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1497T>C;refseq.codonCoord=499;refseq.end=10529452;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1506;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F499F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=10529452;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 10529673 . A G 167.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.86;MQ0=0;OQ=2185.99;QD=13.84;RankSumP=0.359346;SB=-910.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1352T>C;refseq.codonCoord=451;refseq.end=10529673;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1361;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L451P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-26;refseq.start=10529673;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr19 10529874 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1254G>A;refseq.codonCoord=418;refseq.end=10529874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1263;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E418E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-35;refseq.start=10529874;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr19 10531184 . C G 259.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=363;Dels=0.00;HRun=0;HaplotypeScore=12.62;MQ=98.78;MQ0=0;OQ=8048.49;QD=22.17;RankSumP=0.0966125;SB=-3477.41;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1063G>C;refseq.codonCoord=355;refseq.end=10531184;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1072;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E355Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=22;refseq.start=10531184;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 10531992 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=99.00;MQ0=0;OQ=838.80;QD=16.45;RankSumP=0.489145;SB=-266.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.814G>A;refseq.codonCoord=272;refseq.end=10531992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E272K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=10531992;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 10533493 . C T 281.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=2447.73;QD=16.77;RankSumP=0.295337;SB=-922.28;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.430G>A;refseq.codonCoord=144;refseq.end=10533493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=439;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G144R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-27;refseq.start=10533493;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 10537423 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=96.79;MQ0=0;OQ=519.56;QD=11.05;RankSumP=0.524217;SB=-267.24;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.156C>T;refseq.codonCoord=52;refseq.end=10537423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_023008;refseq.name2=KRI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S52S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-31;refseq.start=10537423;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr19 10540240 . C G 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=368.17;QD=28.32;RankSumP=1.00000;SB=-192.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.90G>C;refseq.codingCoordStr_2=c.90G>C;refseq.codonCoord_1=30;refseq.codonCoord_2=30;refseq.end_1=10540240;refseq.end_2=10540240;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=392;refseq.mrnaCoord_2=138;refseq.name2_1=CDKN2D;refseq.name2_2=CDKN2D;refseq.name_1=NM_001800;refseq.name_2=NM_079421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R30R;refseq.proteinCoordStr_2=p.R30R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=10540240;refseq.start_2=10540240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 10599639 . C T 132.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=98.77;MQ0=0;OQ=1491.19;QD=12.53;RankSumP=0.0114649;SB=-616.00;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.198C>T;refseq.codingCoordStr_2=c.204C>T;refseq.codonCoord_1=66;refseq.codonCoord_2=68;refseq.end_1=10599639;refseq.end_2=10599639;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=343;refseq.name2_1=SLC44A2;refseq.name2_2=SLC44A2;refseq.name_1=NM_001145056;refseq.name_2=NM_020428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D66D;refseq.proteinCoordStr_2=p.D68D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=10599639;refseq.start_2=10599639;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr19 10603170 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=27.80;MQ=98.88;MQ0=0;OQ=2003.46;QD=9.07;RankSumP=0.497972;SB=-566.47;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.455A>G;refseq.codingCoordStr_2=c.461A>G;refseq.codonCoord_1=152;refseq.codonCoord_2=154;refseq.end_1=10603170;refseq.end_2=10603170;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=541;refseq.mrnaCoord_2=600;refseq.name2_1=SLC44A2;refseq.name2_2=SLC44A2;refseq.name_1=NM_001145056;refseq.name_2=NM_020428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q152R;refseq.proteinCoordStr_2=p.Q154R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=10603170;refseq.start_2=10603170;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;set=Intersection GT 0/1 chr19 10609707 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1772T>G;refseq.codingCoordStr_2=c.1778T>G;refseq.codonCoord_1=591;refseq.codonCoord_2=593;refseq.end_1=10609707;refseq.end_2=10609707;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1858;refseq.mrnaCoord_2=1917;refseq.name2_1=SLC44A2;refseq.name2_2=SLC44A2;refseq.name_1=NM_001145056;refseq.name_2=NM_020428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V591G;refseq.proteinCoordStr_2=p.V593G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=10609707;refseq.start_2=10609707;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr19 10614983 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=2.12909e-06;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2037G>C;refseq.codingCoordStr_2=c.2043G>C;refseq.codonCoord_1=679;refseq.codonCoord_2=681;refseq.end_1=10614983;refseq.end_2=10614983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2123;refseq.mrnaCoord_2=2182;refseq.name2_1=SLC44A2;refseq.name2_2=SLC44A2;refseq.name_1=NM_001145056;refseq.name_2=NM_020428;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S679S;refseq.proteinCoordStr_2=p.S681S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=10614983;refseq.start_2=10614983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr19 10655630 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=523;Dels=0.00;HRun=0;HaplotypeScore=29.75;MQ=98.27;MQ0=0;OQ=5154.04;QD=9.85;RankSumP=0.0575294;SB=-820.94;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.2055G>T;refseq.codingCoordStr_2=c.2043G>T;refseq.codingCoordStr_3=c.2043G>T;refseq.codingCoordStr_4=c.2055G>T;refseq.codingCoordStr_5=c.2043G>T;refseq.codonCoord_1=685;refseq.codonCoord_2=681;refseq.codonCoord_3=681;refseq.codonCoord_4=685;refseq.codonCoord_5=681;refseq.end_1=10655630;refseq.end_2=10655630;refseq.end_3=10655630;refseq.end_4=10655630;refseq.end_5=10655630;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2372;refseq.mrnaCoord_2=2360;refseq.mrnaCoord_3=2360;refseq.mrnaCoord_4=2372;refseq.mrnaCoord_5=2360;refseq.name2_1=ILF3;refseq.name2_2=ILF3;refseq.name2_3=ILF3;refseq.name2_4=ILF3;refseq.name2_5=ILF3;refseq.name_1=NM_001137673;refseq.name_2=NM_004516;refseq.name_3=NM_012218;refseq.name_4=NM_017620;refseq.name_5=NM_153464;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.S685S;refseq.proteinCoordStr_2=p.S681S;refseq.proteinCoordStr_3=p.S681S;refseq.proteinCoordStr_4=p.S685S;refseq.proteinCoordStr_5=p.S681S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.spliceDist_4=-17;refseq.spliceDist_5=-17;refseq.start_1=10655630;refseq.start_2=10655630;refseq.start_3=10655630;refseq.start_4=10655630;refseq.start_5=10655630;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;refseq.variantCodon_4=TCT;refseq.variantCodon_5=TCT;set=Intersection GT 0/1 chr19 10796797 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=117;Dels=0.00;HRun=2;HaplotypeScore=12.99;MQ=98.51;MQ0=0;OQ=276.45;QD=2.36;RankSumP=0.00000;SB=116.39;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1958T>G;refseq.codingCoordStr_2=c.1958T>G;refseq.codingCoordStr_3=c.1946T>G;refseq.codingCoordStr_4=c.1946T>G;refseq.codonCoord_1=653;refseq.codonCoord_2=653;refseq.codonCoord_3=649;refseq.codonCoord_4=649;refseq.end_1=10796797;refseq.end_2=10796797;refseq.end_3=10796797;refseq.end_4=10796797;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2122;refseq.mrnaCoord_2=2122;refseq.mrnaCoord_3=2110;refseq.mrnaCoord_4=2110;refseq.name2_1=DNM2;refseq.name2_2=DNM2;refseq.name2_3=DNM2;refseq.name2_4=DNM2;refseq.name_1=NM_001005360;refseq.name_2=NM_001005361;refseq.name_3=NM_001005362;refseq.name_4=NM_004945;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V653G;refseq.proteinCoordStr_2=p.V653G;refseq.proteinCoordStr_3=p.V649G;refseq.proteinCoordStr_4=p.V649G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.spliceDist_4=65;refseq.start_1=10796797;refseq.start_2=10796797;refseq.start_3=10796797;refseq.start_4=10796797;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr19 10800792 . T C 112.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=96.26;MQ0=0;OQ=1207.70;QD=15.29;RankSumP=0.0461124;SB=-391.29;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.2139T>C;refseq.codingCoordStr_2=c.2139T>C;refseq.codingCoordStr_3=c.2127T>C;refseq.codingCoordStr_4=c.2127T>C;refseq.codonCoord_1=713;refseq.codonCoord_2=713;refseq.codonCoord_3=709;refseq.codonCoord_4=709;refseq.end_1=10800792;refseq.end_2=10800792;refseq.end_3=10800792;refseq.end_4=10800792;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2303;refseq.mrnaCoord_2=2303;refseq.mrnaCoord_3=2291;refseq.mrnaCoord_4=2291;refseq.name2_1=DNM2;refseq.name2_2=DNM2;refseq.name2_3=DNM2;refseq.name2_4=DNM2;refseq.name_1=NM_001005360;refseq.name_2=NM_001005361;refseq.name_3=NM_001005362;refseq.name_4=NM_004945;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A713A;refseq.proteinCoordStr_2=p.A713A;refseq.proteinCoordStr_3=p.A709A;refseq.proteinCoordStr_4=p.A709A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=81;refseq.spliceDist_2=81;refseq.spliceDist_3=81;refseq.spliceDist_4=81;refseq.start_1=10800792;refseq.start_2=10800792;refseq.start_3=10800792;refseq.start_4=10800792;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/0 chr19 10880790 . C A 0.03 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=146;Dels=0.00;HRun=1;HaplotypeScore=13.28;MQ=98.65;MQ0=0;OQ=136.51;QD=0.94;RankSumP=0.00000;SB=95.31;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.465C>A;refseq.codonCoord=155;refseq.end=10880790;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_199141;refseq.name2=CARM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y155*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=12;refseq.start=10880790;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr19 10895782 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=2.42459e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.454T>C;refseq.codonCoord=152;refseq.end=10895782;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_024029;refseq.name2=YIPF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S152P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-31;refseq.start=10895782;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 10961121 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.1245+2;refseq.codingCoordStr_2=c.1245+2;refseq.codingCoordStr_3=c.1245+2;refseq.codingCoordStr_4=c.1245+2;refseq.codingCoordStr_5=c.1245+2;refseq.codingCoordStr_6=c.1245+2;refseq.codingCoordStr_7=c.1245+2;refseq.end_1=10961121;refseq.end_2=10961121;refseq.end_3=10961121;refseq.end_4=10961121;refseq.end_5=10961121;refseq.end_6=10961121;refseq.end_7=10961121;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=false;refseq.name2_1=SMARCA4;refseq.name2_2=SMARCA4;refseq.name2_3=SMARCA4;refseq.name2_4=SMARCA4;refseq.name2_5=SMARCA4;refseq.name2_6=SMARCA4;refseq.name2_7=SMARCA4;refseq.name_1=NM_001128844;refseq.name_2=NM_001128845;refseq.name_3=NM_001128846;refseq.name_4=NM_001128847;refseq.name_5=NM_001128848;refseq.name_6=NM_001128849;refseq.name_7=NM_003072;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=intron;refseq.positionType_6=intron;refseq.positionType_7=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceDist_5=2;refseq.spliceDist_6=2;refseq.spliceDist_7=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.spliceInfo_5=splice-donor_2;refseq.spliceInfo_6=splice-donor_2;refseq.spliceInfo_7=splice-donor_2;refseq.start_1=10961121;refseq.start_2=10961121;refseq.start_3=10961121;refseq.start_4=10961121;refseq.start_5=10961121;refseq.start_6=10961121;refseq.start_7=10961121;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;set=FilteredInAll GT 1/0 chr19 10966608 . T C 104.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1495.16;QD=12.78;RankSumP=0.170085;SB=-621.92;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.1524T>C;refseq.codingCoordStr_2=c.1524T>C;refseq.codingCoordStr_3=c.1524T>C;refseq.codingCoordStr_4=c.1524T>C;refseq.codingCoordStr_5=c.1524T>C;refseq.codingCoordStr_6=c.1524T>C;refseq.codingCoordStr_7=c.1524T>C;refseq.codonCoord_1=508;refseq.codonCoord_2=508;refseq.codonCoord_3=508;refseq.codonCoord_4=508;refseq.codonCoord_5=508;refseq.codonCoord_6=508;refseq.codonCoord_7=508;refseq.end_1=10966608;refseq.end_2=10966608;refseq.end_3=10966608;refseq.end_4=10966608;refseq.end_5=10966608;refseq.end_6=10966608;refseq.end_7=10966608;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1884;refseq.mrnaCoord_2=1524;refseq.mrnaCoord_3=1524;refseq.mrnaCoord_4=1524;refseq.mrnaCoord_5=1524;refseq.mrnaCoord_6=1598;refseq.mrnaCoord_7=1808;refseq.name2_1=SMARCA4;refseq.name2_2=SMARCA4;refseq.name2_3=SMARCA4;refseq.name2_4=SMARCA4;refseq.name2_5=SMARCA4;refseq.name2_6=SMARCA4;refseq.name2_7=SMARCA4;refseq.name_1=NM_001128844;refseq.name_2=NM_001128845;refseq.name_3=NM_001128846;refseq.name_4=NM_001128847;refseq.name_5=NM_001128848;refseq.name_6=NM_001128849;refseq.name_7=NM_003072;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.H508H;refseq.proteinCoordStr_2=p.H508H;refseq.proteinCoordStr_3=p.H508H;refseq.proteinCoordStr_4=p.H508H;refseq.proteinCoordStr_5=p.H508H;refseq.proteinCoordStr_6=p.H508H;refseq.proteinCoordStr_7=p.H508H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceAA_5=His;refseq.referenceAA_6=His;refseq.referenceAA_7=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.referenceCodon_5=CAT;refseq.referenceCodon_6=CAT;refseq.referenceCodon_7=CAT;refseq.spliceDist_1=-70;refseq.spliceDist_2=-70;refseq.spliceDist_3=-70;refseq.spliceDist_4=-70;refseq.spliceDist_5=-70;refseq.spliceDist_6=-70;refseq.spliceDist_7=-70;refseq.start_1=10966608;refseq.start_2=10966608;refseq.start_3=10966608;refseq.start_4=10966608;refseq.start_5=10966608;refseq.start_6=10966608;refseq.start_7=10966608;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;set=Intersection GT 1/0 chr19 10984647 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=394;Dels=0.00;HRun=2;HaplotypeScore=39.22;MQ=98.25;MQ0=0;OQ=209.02;QD=0.53;RankSumP=0.00000;SB=492.57;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.2297T>G;refseq.codingCoordStr_2=c.2297T>G;refseq.codingCoordStr_3=c.2297T>G;refseq.codingCoordStr_4=c.2297T>G;refseq.codingCoordStr_5=c.2297T>G;refseq.codingCoordStr_6=c.2297T>G;refseq.codingCoordStr_7=c.2297T>G;refseq.codonCoord_1=766;refseq.codonCoord_2=766;refseq.codonCoord_3=766;refseq.codonCoord_4=766;refseq.codonCoord_5=766;refseq.codonCoord_6=766;refseq.codonCoord_7=766;refseq.end_1=10984647;refseq.end_2=10984647;refseq.end_3=10984647;refseq.end_4=10984647;refseq.end_5=10984647;refseq.end_6=10984647;refseq.end_7=10984647;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=2657;refseq.mrnaCoord_2=2297;refseq.mrnaCoord_3=2297;refseq.mrnaCoord_4=2297;refseq.mrnaCoord_5=2297;refseq.mrnaCoord_6=2371;refseq.mrnaCoord_7=2581;refseq.name2_1=SMARCA4;refseq.name2_2=SMARCA4;refseq.name2_3=SMARCA4;refseq.name2_4=SMARCA4;refseq.name2_5=SMARCA4;refseq.name2_6=SMARCA4;refseq.name2_7=SMARCA4;refseq.name_1=NM_001128844;refseq.name_2=NM_001128845;refseq.name_3=NM_001128846;refseq.name_4=NM_001128847;refseq.name_5=NM_001128848;refseq.name_6=NM_001128849;refseq.name_7=NM_003072;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.V766G;refseq.proteinCoordStr_2=p.V766G;refseq.proteinCoordStr_3=p.V766G;refseq.proteinCoordStr_4=p.V766G;refseq.proteinCoordStr_5=p.V766G;refseq.proteinCoordStr_6=p.V766G;refseq.proteinCoordStr_7=p.V766G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Val;refseq.referenceAA_7=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=GTG;refseq.referenceCodon_7=GTG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.spliceDist_5=23;refseq.spliceDist_6=23;refseq.spliceDist_7=23;refseq.start_1=10984647;refseq.start_2=10984647;refseq.start_3=10984647;refseq.start_4=10984647;refseq.start_5=10984647;refseq.start_6=10984647;refseq.start_7=10984647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;refseq.variantCodon_7=GGG;set=FilteredInAll GT 1/0 chr19 11071912 . C T 306.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=98.35;MQ0=0;OQ=6370.74;QD=19.72;RankSumP=0.282675;SB=-2404.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.81C>T;refseq.codonCoord=27;refseq.end=11071912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.C27C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=14;refseq.start=11071912;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr19 11085265 . A G 105.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=222;Dels=0.00;HRun=1;HaplotypeScore=11.84;MQ=98.51;MQ0=0;OQ=4189.88;QD=18.87;RankSumP=0.380102;SB=-1095.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1413A>G;refseq.codonCoord=471;refseq.end=11085265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R471R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=55;refseq.start=11085265;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 11088602 . C T 322.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.86;MQ0=0;OQ=4404.20;QD=20.68;RankSumP=0.0581934;SB=-1466.94;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1773C>T;refseq.codonCoord=591;refseq.end=11088602;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1941;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.N591N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=68;refseq.start=11088602;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr19 11091881 . T C 212.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=98.87;MQ0=0;OQ=2911.43;QD=16.26;RankSumP=0.102152;SB=-878.55;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1959T>C;refseq.codonCoord=653;refseq.end=11091881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2127;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.V653V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-29;refseq.start=11091881;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 11094909 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=2.77828e-07;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2200A>C;refseq.codonCoord=734;refseq.end=11094909;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2368;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.T734P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=60;refseq.start=11094909;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr19 11094941 . A G 193.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=8.33;MQ=97.50;MQ0=0;OQ=4359.15;QD=36.63;RankSumP=1.00000;SB=-1556.82;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2232A>G;refseq.codonCoord=744;refseq.end=11094941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2400;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.R744R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-80;refseq.start=11094941;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr19 11099701 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0303364;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2329G>T;refseq.codonCoord=777;refseq.end=11099701;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2497;refseq.name=NM_000527;refseq.name2=LDLR;refseq.positionType=CDS;refseq.proteinCoordStr=p.G777C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=18;refseq.start=11099701;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr19 11138232 . G A 187.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.49;MQ0=0;OQ=2039.09;QD=16.85;RankSumP=0.398141;SB=-707.14;SecondBestBaseQ=28;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2C>T;refseq.codingCoordStr_2=c.*2C>T;refseq.end_1=11138232;refseq.end_2=11138232;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2919;refseq.mrnaCoord_2=2661;refseq.name2_1=KANK2;refseq.name2_2=KANK2;refseq.name_1=NM_001136191;refseq.name_2=NM_015493;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=11138232;refseq.start_2=11138232;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chr19 11331370 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=143;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=98.50;MQ0=0;OQ=2315.41;QD=16.19;RankSumP=0.234747;SB=-1005.77;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.154C>G;refseq.codingCoordStr_2=c.229C>G;refseq.codonCoord_1=52;refseq.codonCoord_2=77;refseq.end_1=11331370;refseq.end_2=11331370;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=605;refseq.name2_1=LPPR2;refseq.name2_2=LPPR2;refseq.name_1=NM_001170635;refseq.name_2=NM_022737;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L52V;refseq.proteinCoordStr_2=p.L77V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=11331370;refseq.start_2=11331370;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr19 11369177 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=98.03;MQ0=0;OQ=1217.82;QD=25.37;RankSumP=0.504921;SB=-278.59;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1843C>T;refseq.codingCoordStr_2=c.1861C>T;refseq.codonCoord_1=615;refseq.codonCoord_2=621;refseq.end_1=11369177;refseq.end_2=11369177;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1907;refseq.mrnaCoord_2=1925;refseq.name2_1=RGL3;refseq.name2_2=RGL3;refseq.name_1=NM_001035223;refseq.name_2=NM_001161616;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R615C;refseq.proteinCoordStr_2=p.R621C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=11369177;refseq.start_2=11369177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr19 11387759 . G A 268.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=1202.03;QD=37.56;RankSumP=1.00000;SB=-477.36;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.491C>T;refseq.codingCoordStr_2=c.491C>T;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.end_1=11387759;refseq.end_2=11387759;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=555;refseq.name2_1=RGL3;refseq.name2_2=RGL3;refseq.name_1=NM_001035223;refseq.name_2=NM_001161616;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A164V;refseq.proteinCoordStr_2=p.A164V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=66;refseq.spliceDist_2=66;refseq.start_1=11387759;refseq.start_2=11387759;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr19 11387765 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=318.75;QD=10.28;RankSumP=0.534551;SB=-125.69;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.485C>A;refseq.codingCoordStr_2=c.485C>A;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=11387765;refseq.end_2=11387765;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=549;refseq.mrnaCoord_2=549;refseq.name2_1=RGL3;refseq.name2_2=RGL3;refseq.name_1=NM_001035223;refseq.name_2=NM_001161616;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P162H;refseq.proteinCoordStr_2=p.P162H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.start_1=11387765;refseq.start_2=11387765;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr19 11388648 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=1.55169e-06;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.233T>G;refseq.codingCoordStr_2=c.233T>G;refseq.codonCoord_1=78;refseq.codonCoord_2=78;refseq.end_1=11388648;refseq.end_2=11388648;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=297;refseq.name2_1=RGL3;refseq.name2_2=RGL3;refseq.name_1=NM_001035223;refseq.name_2=NM_001161616;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V78G;refseq.proteinCoordStr_2=p.V78G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=11388648;refseq.start_2=11388648;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 11402549 . C T 24.12 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=39;Dels=0.00;HRun=2;HaplotypeScore=5.49;MQ=98.51;MQ0=0;QD=0.62;RankSumP=8.25749e-07;SB=38.16;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.414G>A;refseq.codonCoord=138;refseq.end=11402549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_145045;refseq.name2=CCDC151;refseq.positionType=CDS;refseq.proteinCoordStr=p.E138E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-31;refseq.start=11402549;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr19 11459240 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=564.03;QD=20.89;RankSumP=0.745217;SB=-200.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1038C>T;refseq.codonCoord=346;refseq.end=11459240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1175;refseq.name=NM_138783;refseq.name2=ZNF653;refseq.positionType=CDS;refseq.proteinCoordStr=p.P346P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-134;refseq.start=11459240;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 11459483 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=9.45;MQ=98.03;MQ0=0;OQ=1695.96;QD=10.87;RankSumP=0.317722;SB=-867.00;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.795A>G;refseq.codonCoord=265;refseq.end=11459483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=932;refseq.name=NM_138783;refseq.name2=ZNF653;refseq.positionType=CDS;refseq.proteinCoordStr=p.P265P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=236;refseq.start=11459483;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 11521223 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.587A>C;refseq.codonCoord=196;refseq.end=11521223;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_001299;refseq.name2=CNN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D196A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-62;refseq.start=11521223;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 11586413 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=582;Dels=0.00;HRun=2;HaplotypeScore=22.66;MQ=89.88;MQ0=2;OQ=12102.44;QD=20.79;RankSumP=0.383892;SB=-4427.50;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.75G>A;refseq.codonCoord=25;refseq.end=11586413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_145295;refseq.name2=ZNF627;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q25Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-56;refseq.start=11586413;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr19 11802126 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.32T>G;refseq.codonCoord=11;refseq.end=11802126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=188;refseq.name=NM_152357;refseq.name2=ZNF440;refseq.positionType=CDS;refseq.proteinCoordStr=p.V11G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=11802126;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 11919024 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.92T>G;refseq.codonCoord=31;refseq.end=11919024;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=218;refseq.name=NM_144566;refseq.name2=ZNF700;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=11919024;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 12117358 . T G 108.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=23.45;MQ=98.48;MQ0=0;OQ=7436.75;QD=19.83;RankSumP=0.209979;SB=-2849.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.675A>C;refseq.codonCoord=225;refseq.end=12117358;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1025;refseq.name=NM_145233;refseq.name2=ZNF625;refseq.positionType=CDS;refseq.proteinCoordStr=p.R225R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-650;refseq.start=12117358;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr19 12117865 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.168C>A;refseq.codonCoord=56;refseq.end=12117865;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_145233;refseq.name2=ZNF625;refseq.positionType=CDS;refseq.proteinCoordStr=p.H56Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=175;refseq.start=12117865;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr19 12117912 . C T 249.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=11.36;MQ=98.30;MQ0=0;OQ=5014.19;QD=21.25;RankSumP=0.0616453;SB=-1099.13;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.121G>A;refseq.codonCoord=41;refseq.end=12117912;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_145233;refseq.name2=ZNF625;refseq.positionType=CDS;refseq.proteinCoordStr=p.V41M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=128;refseq.start=12117912;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 12402532 . C A 327.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=3.10;MQ=92.05;MQ0=1;OQ=9038.49;QD=37.66;RankSumP=1.00000;SB=-3103.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1454G>T;refseq.codonCoord=485;refseq.end=12402532;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_005815;refseq.name2=ZNF443;refseq.positionType=CDS;refseq.proteinCoordStr=p.C485F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-1013;refseq.start=12402532;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr19 12402547 . T G 342.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=93.28;MQ0=1;OQ=11710.95;QD=39.97;RankSumP=1.00000;SB=-4294.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1439A>C;refseq.codonCoord=480;refseq.end=12402547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1637;refseq.name=NM_005815;refseq.name2=ZNF443;refseq.positionType=CDS;refseq.proteinCoordStr=p.K480T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-1028;refseq.start=12402547;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr19 12403772 rs1134389 C T 0.22 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=34.18;MQ0=96;OQ=645.85;QD=5.77;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.214G>A;refseq.codonCoord=72;refseq.end=12403772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_005815;refseq.name2=ZNF443;refseq.positionType=CDS;refseq.proteinCoordStr=p.V72I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=23;refseq.start=12403772;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=gatk GT:AD:DP:GL:GQ 1/1:42,70:16:-68.17,-4.82,-0.00:48.16 chr19 12437049 . G A 181.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=361;Dels=0.00;HRun=0;HaplotypeScore=6.04;MQ=98.62;MQ0=0;OQ=15088.06;QD=41.80;RankSumP=1.00000;SB=-7060.06;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.591C>T;refseq.codingCoordStr_2=c.687C>T;refseq.codonCoord_1=197;refseq.codonCoord_2=229;refseq.end_1=12437049;refseq.end_2=12437049;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=795;refseq.mrnaCoord_2=848;refseq.name2_1=ZNF709;refseq.name2_2=ZNF709;refseq.name_1=NM_001145647;refseq.name_2=NM_152601;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C197C;refseq.proteinCoordStr_2=p.C229C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=499;refseq.spliceDist_2=499;refseq.start_1=12437049;refseq.start_2=12437049;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/1 chr19 12553001 . G A 276.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=99.00;MQ0=0;OQ=5945.47;QD=22.96;RankSumP=0.142177;SB=-2329.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.888C>T;refseq.codonCoord=296;refseq.end=12553001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_020714;refseq.name2=ZNF490;refseq.positionType=CDS;refseq.proteinCoordStr=p.H296H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=538;refseq.start=12553001;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr19 12629948 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=98.65;MQ0=0;OQ=819.38;QD=15.76;RankSumP=0.156300;SB=-166.31;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1238A>G;refseq.codingCoordStr_2=c.1235A>G;refseq.codonCoord_1=413;refseq.codonCoord_2=412;refseq.end_1=12629948;refseq.end_2=12629948;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1314;refseq.mrnaCoord_2=1311;refseq.name2_1=MAN2B1;refseq.name2_2=MAN2B1;refseq.name_1=NM_000528;refseq.name_2=NM_001173498;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N413S;refseq.proteinCoordStr_2=p.N412S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=12629948;refseq.start_2=12629948;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/0 chr19 12709333 . T G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.523268;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.14T>G;refseq.codonCoord=5;refseq.end=12709333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=28;refseq.name=NM_004317;refseq.name2=ASNA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V5G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=28;refseq.start=12709333;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 12742869 . T C 32 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=6.05551e-10;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.779A>G;refseq.codingCoordStr_2=c.779A>G;refseq.codonCoord_1=260;refseq.codonCoord_2=260;refseq.end_1=12742869;refseq.end_2=12742869;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=950;refseq.name2_1=HOOK2;refseq.name2_2=HOOK2;refseq.name_1=NM_001100176;refseq.name_2=NM_013312;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E260G;refseq.proteinCoordStr_2=p.E260G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=12742869;refseq.start_2=12742869;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 12771708 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.476T>G;refseq.codonCoord=159;refseq.end=12771708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_005809;refseq.name2=PRDX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V159G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-36;refseq.start=12771708;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr19 12778895 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr19;refseq.codingCoordStr=c.199+2;refseq.end=12778895;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_006397;refseq.name2=RNASEH2A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=12778895;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr19 12781886 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.413T>G;refseq.codonCoord=138;refseq.end=12781886;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=473;refseq.name=NM_006397;refseq.name2=RNASEH2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V138G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=12781886;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr19 12800503 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=3.53772e-08;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.333A>C;refseq.codingCoordStr_2=c.429A>C;refseq.codonCoord_1=111;refseq.codonCoord_2=143;refseq.end_1=12800503;refseq.end_2=12800503;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=463;refseq.mrnaCoord_2=747;refseq.name2_1=RTBDN;refseq.name2_2=RTBDN;refseq.name_1=NM_001080997;refseq.name_2=NM_031429;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A111A;refseq.proteinCoordStr_2=p.A143A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=12800503;refseq.start_2=12800503;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr19 12819697 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=6.21;MQ=98.14;MQ0=0;OQ=1211.33;QD=12.49;RankSumP=0.145006;SB=-215.64;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.600T>C;refseq.codonCoord=200;refseq.end=12819697;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_014975;refseq.name2=MAST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F200F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=36;refseq.start=12819697;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 12824143 . T C 303.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=98.80;MQ0=0;OQ=4271.65;QD=17.36;RankSumP=0.214386;SB=-844.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1011T>C;refseq.codonCoord=337;refseq.end=12824143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1139;refseq.name=NM_014975;refseq.name2=MAST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D337D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=12824143;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 12839579 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.562500;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2354A>G;refseq.codonCoord=785;refseq.end=12839579;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2482;refseq.name=NM_014975;refseq.name2=MAST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E785G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=12839579;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 12846576 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=6.82;MQ=98.80;MQ0=0;OQ=933.08;QD=10.73;RankSumP=0.379452;SB=-415.07;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4605A>G;refseq.codonCoord=1535;refseq.end=12846576;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4733;refseq.name=NM_014975;refseq.name2=MAST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1535S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-190;refseq.start=12846576;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 12850560 . G A 264.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=97.75;MQ0=0;OQ=2859.45;QD=18.69;RankSumP=0.292583;SB=-1330.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.435C>T;refseq.codonCoord=145;refseq.end=12850560;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_001375;refseq.name2=DNASE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S145S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-77;refseq.start=12850560;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr19 12857740 . A G 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=71.73;QD=14.35;RankSumP=0.750000;SB=-47.68;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.304T>C;refseq.codonCoord=102;refseq.end=12857740;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_006563;refseq.name2=KLF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=217;refseq.start=12857740;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr19 12865307 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.345T>G;refseq.codingCoordStr_2=c.345T>G;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=12865307;refseq.end_2=12865307;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=422;refseq.name2_1=GCDH;refseq.name2_2=GCDH;refseq.name_1=NM_000159;refseq.name_2=NM_013976;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C115W;refseq.proteinCoordStr_2=p.C115W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=12865307;refseq.start_2=12865307;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr19 12865373 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.411C>A;refseq.codingCoordStr_2=c.411C>A;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=12865373;refseq.end_2=12865373;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=488;refseq.name2_1=GCDH;refseq.name2_2=GCDH;refseq.name_1=NM_000159;refseq.name_2=NM_013976;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y137*;refseq.proteinCoordStr_2=p.Y137*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=12865373;refseq.start_2=12865373;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr19 12869607 . G T 153 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=98.30;MQ0=0;OQ=1433.38;QD=13.52;RankSumP=0.000789099;SB=-563.47;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1173G>T;refseq.codingCoordStr_2=c.1173G>T;refseq.codonCoord_1=391;refseq.codonCoord_2=391;refseq.end_1=12869607;refseq.end_2=12869607;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1250;refseq.mrnaCoord_2=1250;refseq.name2_1=GCDH;refseq.name2_2=GCDH;refseq.name_1=NM_000159;refseq.name_2=NM_013976;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G391G;refseq.proteinCoordStr_2=p.G391G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=12869607;refseq.start_2=12869607;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=filterInsoap-gatk GT 0/1 chr19 13116588 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.89;MQ0=0;OQ=819.60;QD=12.81;RankSumP=0.429387;SB=-207.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.568G>A;refseq.codonCoord=190;refseq.end=13116588;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=568;refseq.name=NM_003765;refseq.name2=STX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E190K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-11;refseq.start=13116588;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 13125398 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=97.12;MQ0=0;OQ=231.77;QD=12.20;RankSumP=0.712658;SB=-120.96;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.398C>T;refseq.codonCoord=133;refseq.end=13125398;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=726;refseq.name=NM_004907;refseq.name2=IER2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A133V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=641;refseq.start=13125398;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr19 13802670 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=2.15163e-07;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2776A>C;refseq.codonCoord=926;refseq.end=13802670;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2965;refseq.name=NM_023072;refseq.name2=ZSWIM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T926P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=666;refseq.start=13802670;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 13861125 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1544A>C;refseq.codonCoord=515;refseq.end=13861125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1603;refseq.name=NM_024323;refseq.name2=C19orf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.H515P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-125;refseq.start=13861125;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 13899791 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.63;MQ0=0;OQ=985.68;QD=9.76;RankSumP=0.417020;SB=-488.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2402C>T;refseq.codonCoord=801;refseq.end=13899791;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2701;refseq.name=NM_017721;refseq.name2=CC2D1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T801M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-53;refseq.start=13899791;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 13926341 . T C 224.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=99.00;MQ0=0;OQ=1951.07;QD=15.01;RankSumP=0.375992;SB=-639.05;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.234T>C;refseq.codonCoord=78;refseq.end=13926341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=240;refseq.name=NM_138353;refseq.name2=DCAF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.H78H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=13926341;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr19 13932336 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.000540210;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1691T>G;refseq.codonCoord=564;refseq.end=13932336;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1697;refseq.name=NM_138353;refseq.name2=DCAF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V564G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-57;refseq.start=13932336;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 13944761 . T C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=97.06;MQ0=0;OQ=1935.60;QD=26.52;RankSumP=1.00000;SB=-373.48;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1108A>G;refseq.codonCoord=370;refseq.end=13944761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_002918;refseq.name2=RFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T370A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=179;refseq.start=13944761;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 13951284 . A G 33 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00193268;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.809T>C;refseq.codonCoord=270;refseq.end=13951284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1081;refseq.name=NM_002918;refseq.name2=RFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L270P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-26;refseq.start=13951284;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 14078611 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.198C>G;refseq.codingCoordStr_2=c.174C>G;refseq.codonCoord_1=66;refseq.codonCoord_2=58;refseq.end_1=14078611;refseq.end_2=14078611;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=199;refseq.name2_1=PRKACA;refseq.name2_2=PRKACA;refseq.name_1=NM_002730;refseq.name_2=NM_207518;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T66T;refseq.proteinCoordStr_2=p.T58T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=14078611;refseq.start_2=14078611;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT 0/1 chr19 14368228 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.421A>C;refseq.codingCoordStr_3=c.421A>C;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.end_1=14369459;refseq.end_2=14368228;refseq.end_3=14368228;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=544;refseq.name2_1=CD97;refseq.name2_2=CD97;refseq.name2_3=CD97;refseq.name_1=NM_001784;refseq.name_2=NM_001025160;refseq.name_3=NM_078481;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T141P;refseq.proteinCoordStr_3=p.T141P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.start_1=14362902;refseq.start_2=14368228;refseq.start_3=14368228;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr19 14376315 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=111;Dels=0.00;HRun=2;HaplotypeScore=15.50;MQ=96.66;MQ0=0;OQ=51.87;QD=0.47;RankSumP=0.103614;SB=83.19;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1423A>C;refseq.codingCoordStr_2=c.1291A>C;refseq.codingCoordStr_3=c.1570A>C;refseq.codonCoord_1=475;refseq.codonCoord_2=431;refseq.codonCoord_3=524;refseq.end_1=14376315;refseq.end_2=14376315;refseq.end_3=14376315;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1546;refseq.mrnaCoord_2=1414;refseq.mrnaCoord_3=1693;refseq.name2_1=CD97;refseq.name2_2=CD97;refseq.name2_3=CD97;refseq.name_1=NM_001025160;refseq.name_2=NM_001784;refseq.name_3=NM_078481;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T475P;refseq.proteinCoordStr_2=p.T431P;refseq.proteinCoordStr_3=p.T524P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=14376315;refseq.start_2=14376315;refseq.start_3=14376315;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=soap-filterIngatk GT 0/1 chr19 14380963 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1153C>T;refseq.codonCoord=385;refseq.end=14380963;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1247;refseq.name=NM_005804;refseq.name2=DDX39;refseq.positionType=CDS;refseq.proteinCoordStr=p.L385L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=34;refseq.start=14380963;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr19 14422722 . A G 370.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=1854.95;QD=40.32;RankSumP=1.00000;SB=-634.92;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.771A>G;refseq.codingCoordStr_2=c.789A>G;refseq.codonCoord_1=257;refseq.codonCoord_2=263;refseq.end_1=14422722;refseq.end_2=14422722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=806;refseq.name2_1=PKN1;refseq.name2_2=PKN1;refseq.name_1=NM_002741;refseq.name_2=NM_213560;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L257L;refseq.proteinCoordStr_2=p.L263L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=14422722;refseq.start_2=14422722;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr19 14443539 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.19;MQ0=0;OQ=372.61;QD=13.31;RankSumP=0.730372;SB=-111.60;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2772C>T;refseq.codingCoordStr_2=c.2790C>T;refseq.codonCoord_1=924;refseq.codonCoord_2=930;refseq.end_1=14443539;refseq.end_2=14443539;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2940;refseq.mrnaCoord_2=2807;refseq.name2_1=PKN1;refseq.name2_2=PKN1;refseq.name_1=NM_002741;refseq.name_2=NM_213560;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L924L;refseq.proteinCoordStr_2=p.L930L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-141;refseq.spliceDist_2=-141;refseq.start_1=14443539;refseq.start_2=14443539;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr19 14444582 . C T 80.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=97.82;MQ0=0;OQ=529.17;QD=21.17;RankSumP=0.615329;SB=-152.17;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.999G>A;refseq.codonCoord=333;refseq.end=14444582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_000955;refseq.name2=PTGER1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L333L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=57;refseq.start=14444582;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr19 14490150 . G A 196.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=91.76;MQ0=0;OQ=2063.23;QD=34.97;RankSumP=1.00000;SB=-503.99;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12C>T;refseq.codonCoord=4;refseq.end=14490150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=52;refseq.name=NM_006145;refseq.name2=DNAJB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D4D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=52;refseq.start=14490150;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr19 14613325 . C T 160.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=80.71;MQ0=37;OQ=5867.77;QD=32.96;RankSumP=1.00000;SB=-503.63;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1154G>A;refseq.codonCoord=385;refseq.end=14613325;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_032571;refseq.name2=EMR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R385Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-95;refseq.start=14613325;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 14630339 . C G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=10046.17;QD=49.49;RankSumP=1.00000;SB=-4618.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.379G>C;refseq.codonCoord=127;refseq.end=14630339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=527;refseq.name=NM_032571;refseq.name2=EMR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E127Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-15;refseq.start=14630339;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 14678548 . T A 361.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=8.15;MQ=98.68;MQ0=0;OQ=4831.24;QD=18.03;RankSumP=0.0190205;SB=-1804.54;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.474T>A;refseq.codonCoord=158;refseq.end=14678548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_032433;refseq.name2=ZNF333;refseq.positionType=CDS;refseq.proteinCoordStr=p.T158T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-38;refseq.start=14678548;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr19 14687952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.629T>G;refseq.codonCoord=210;refseq.end=14687952;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=763;refseq.name=NM_032433;refseq.name2=ZNF333;refseq.positionType=CDS;refseq.proteinCoordStr=p.V210G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=14687952;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 14690749 . C T 135.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.96;MQ0=0;OQ=3098.50;QD=12.86;RankSumP=0.325200;SB=-1217.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1610C>T;refseq.codonCoord=537;refseq.end=14690749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1744;refseq.name=NM_032433;refseq.name2=ZNF333;refseq.positionType=CDS;refseq.proteinCoordStr=p.A537V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=710;refseq.start=14690749;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 14724150 . G A 241.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=96.69;MQ0=3;OQ=4321.63;QD=18.71;RankSumP=0.311724;SB=-1309.65;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.1779C>T;refseq.codingCoordStr_2=c.1632C>T;refseq.codingCoordStr_3=c.1500C>T;refseq.codingCoordStr_4=c.1353C>T;refseq.codingCoordStr_5=c.1746C>T;refseq.codingCoordStr_6=c.1599C>T;refseq.codingCoordStr_7=c.1467C>T;refseq.codonCoord_1=593;refseq.codonCoord_2=544;refseq.codonCoord_3=500;refseq.codonCoord_4=451;refseq.codonCoord_5=582;refseq.codonCoord_6=533;refseq.codonCoord_7=489;refseq.end_1=14724150;refseq.end_2=14724150;refseq.end_3=14724150;refseq.end_4=14724150;refseq.end_5=14724150;refseq.end_6=14724150;refseq.end_7=14724150;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=2235;refseq.mrnaCoord_2=2088;refseq.mrnaCoord_3=1956;refseq.mrnaCoord_4=1809;refseq.mrnaCoord_5=2202;refseq.mrnaCoord_6=2055;refseq.mrnaCoord_7=1923;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_013447;refseq.name_2=NM_152916;refseq.name_3=NM_152917;refseq.name_4=NM_152918;refseq.name_5=NM_152919;refseq.name_6=NM_152920;refseq.name_7=NM_152921;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T593T;refseq.proteinCoordStr_2=p.T544T;refseq.proteinCoordStr_3=p.T500T;refseq.proteinCoordStr_4=p.T451T;refseq.proteinCoordStr_5=p.T582T;refseq.proteinCoordStr_6=p.T533T;refseq.proteinCoordStr_7=p.T489T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.referenceCodon_7=ACC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceDist_5=-10;refseq.spliceDist_6=-10;refseq.spliceDist_7=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.spliceInfo_5=splice-donor_-10;refseq.spliceInfo_6=splice-donor_-10;refseq.spliceInfo_7=splice-donor_-10;refseq.start_1=14724150;refseq.start_2=14724150;refseq.start_3=14724150;refseq.start_4=14724150;refseq.start_5=14724150;refseq.start_6=14724150;refseq.start_7=14724150;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;refseq.variantCodon_5=ACT;refseq.variantCodon_6=ACT;refseq.variantCodon_7=ACT;set=Intersection GT 1/0 chr19 14736388 . G A 138.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=10.91;MQ=98.36;MQ0=0;OQ=4918.79;QD=36.17;RankSumP=1.00000;SB=-2451.34;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.941C>T;refseq.codingCoordStr_2=c.794C>T;refseq.codingCoordStr_3=c.662C>T;refseq.codingCoordStr_4=c.515C>T;refseq.codingCoordStr_5=c.941C>T;refseq.codingCoordStr_6=c.794C>T;refseq.codingCoordStr_7=c.662C>T;refseq.codonCoord_1=314;refseq.codonCoord_2=265;refseq.codonCoord_3=221;refseq.codonCoord_4=172;refseq.codonCoord_5=314;refseq.codonCoord_6=265;refseq.codonCoord_7=221;refseq.end_1=14736388;refseq.end_2=14736388;refseq.end_3=14736388;refseq.end_4=14736388;refseq.end_5=14736388;refseq.end_6=14736388;refseq.end_7=14736388;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1250;refseq.mrnaCoord_3=1118;refseq.mrnaCoord_4=971;refseq.mrnaCoord_5=1397;refseq.mrnaCoord_6=1250;refseq.mrnaCoord_7=1118;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_013447;refseq.name_2=NM_152916;refseq.name_3=NM_152917;refseq.name_4=NM_152918;refseq.name_5=NM_152919;refseq.name_6=NM_152920;refseq.name_7=NM_152921;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.A314V;refseq.proteinCoordStr_2=p.A265V;refseq.proteinCoordStr_3=p.A221V;refseq.proteinCoordStr_4=p.A172V;refseq.proteinCoordStr_5=p.A314V;refseq.proteinCoordStr_6=p.A265V;refseq.proteinCoordStr_7=p.A221V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.referenceCodon_5=GCC;refseq.referenceCodon_6=GCC;refseq.referenceCodon_7=GCC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.spliceDist_4=35;refseq.spliceDist_5=35;refseq.spliceDist_6=35;refseq.spliceDist_7=35;refseq.start_1=14736388;refseq.start_2=14736388;refseq.start_3=14736388;refseq.start_4=14736388;refseq.start_5=14736388;refseq.start_6=14736388;refseq.start_7=14736388;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;set=Intersection GT 1/1 chr19 14738799 . G C 29.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=51.54;MQ0=7;OQ=391.57;QD=18.65;RankSumP=1.00000;SB=-96.94;SecondBestBaseQ=0;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.478C>G;refseq.codingCoordStr_5=c.478C>G;refseq.codingCoordStr_6=c.478C>G;refseq.codingCoordStr_7=c.478C>G;refseq.codonCoord_4=160;refseq.codonCoord_5=160;refseq.codonCoord_6=160;refseq.codonCoord_7=160;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738799;refseq.end_5=14738799;refseq.end_6=14738799;refseq.end_7=14738799;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=934;refseq.mrnaCoord_5=934;refseq.mrnaCoord_6=934;refseq.mrnaCoord_7=934;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.L160V;refseq.proteinCoordStr_5=p.L160V;refseq.proteinCoordStr_6=p.L160V;refseq.proteinCoordStr_7=p.L160V;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.referenceCodon_7=CTC;refseq.spliceDist_4=-10;refseq.spliceDist_5=-10;refseq.spliceDist_6=-10;refseq.spliceDist_7=-10;refseq.spliceInfo_4=splice-donor_-10;refseq.spliceInfo_5=splice-donor_-10;refseq.spliceInfo_6=splice-donor_-10;refseq.spliceInfo_7=splice-donor_-10;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738799;refseq.start_5=14738799;refseq.start_6=14738799;refseq.start_7=14738799;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;set=Intersection GT 1/1 chr19 14738806 . G A 92.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=45.23;MQ0=6;OQ=245.78;QD=14.46;RankSumP=1.00000;SB=-47.56;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.471C>T;refseq.codingCoordStr_5=c.471C>T;refseq.codingCoordStr_6=c.471C>T;refseq.codingCoordStr_7=c.471C>T;refseq.codonCoord_4=157;refseq.codonCoord_5=157;refseq.codonCoord_6=157;refseq.codonCoord_7=157;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738806;refseq.end_5=14738806;refseq.end_6=14738806;refseq.end_7=14738806;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=927;refseq.mrnaCoord_5=927;refseq.mrnaCoord_6=927;refseq.mrnaCoord_7=927;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.D157D;refseq.proteinCoordStr_5=p.D157D;refseq.proteinCoordStr_6=p.D157D;refseq.proteinCoordStr_7=p.D157D;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceCodon_4=GAC;refseq.referenceCodon_5=GAC;refseq.referenceCodon_6=GAC;refseq.referenceCodon_7=GAC;refseq.spliceDist_4=-17;refseq.spliceDist_5=-17;refseq.spliceDist_6=-17;refseq.spliceDist_7=-17;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738806;refseq.start_5=14738806;refseq.start_6=14738806;refseq.start_7=14738806;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantAA_6=Asp;refseq.variantAA_7=Asp;refseq.variantCodon_4=GAT;refseq.variantCodon_5=GAT;refseq.variantCodon_6=GAT;refseq.variantCodon_7=GAT;set=filterInsoap-gatk GT 1/1 chr19 14738816 rs12985807 T A 18.99 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.74;MQ0=1;OQ=357.00;QD=29.75;SB=-10.00;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.461A>T;refseq.codingCoordStr_5=c.461A>T;refseq.codingCoordStr_6=c.461A>T;refseq.codingCoordStr_7=c.461A>T;refseq.codonCoord_4=154;refseq.codonCoord_5=154;refseq.codonCoord_6=154;refseq.codonCoord_7=154;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738816;refseq.end_5=14738816;refseq.end_6=14738816;refseq.end_7=14738816;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=917;refseq.mrnaCoord_5=917;refseq.mrnaCoord_6=917;refseq.mrnaCoord_7=917;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.K154I;refseq.proteinCoordStr_5=p.K154I;refseq.proteinCoordStr_6=p.K154I;refseq.proteinCoordStr_7=p.K154I;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceAA_7=Lys;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.referenceCodon_6=AAA;refseq.referenceCodon_7=AAA;refseq.spliceDist_4=-27;refseq.spliceDist_5=-27;refseq.spliceDist_6=-27;refseq.spliceDist_7=-27;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738816;refseq.start_5=14738816;refseq.start_6=14738816;refseq.start_7=14738816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Ile;refseq.variantAA_5=Ile;refseq.variantAA_6=Ile;refseq.variantAA_7=Ile;refseq.variantCodon_4=ATA;refseq.variantCodon_5=ATA;refseq.variantCodon_6=ATA;refseq.variantCodon_7=ATA;set=gatk GT:AD:DP:GL:GQ 1/1:0,11:10:-39.29,-3.01,-0.00:30.10 chr19 14738820 rs12976493 G A 128.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.16;MQ0=0;OQ=407.85;QD=40.79;SB=-10.00;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.457C>T;refseq.codingCoordStr_5=c.457C>T;refseq.codingCoordStr_6=c.457C>T;refseq.codingCoordStr_7=c.457C>T;refseq.codonCoord_4=153;refseq.codonCoord_5=153;refseq.codonCoord_6=153;refseq.codonCoord_7=153;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738820;refseq.end_5=14738820;refseq.end_6=14738820;refseq.end_7=14738820;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=913;refseq.mrnaCoord_5=913;refseq.mrnaCoord_6=913;refseq.mrnaCoord_7=913;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.L153F;refseq.proteinCoordStr_5=p.L153F;refseq.proteinCoordStr_6=p.L153F;refseq.proteinCoordStr_7=p.L153F;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.referenceCodon_7=CTC;refseq.spliceDist_4=-31;refseq.spliceDist_5=-31;refseq.spliceDist_6=-31;refseq.spliceDist_7=-31;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738820;refseq.start_5=14738820;refseq.start_6=14738820;refseq.start_7=14738820;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Phe;refseq.variantAA_5=Phe;refseq.variantAA_6=Phe;refseq.variantAA_7=Phe;refseq.variantCodon_4=TTC;refseq.variantCodon_5=TTC;refseq.variantCodon_6=TTC;refseq.variantCodon_7=TTC;set=gatk GT:AD:DP:GL:GQ 1/1:0,10:10:-44.37,-3.01,-0.00:30.10 chr19 14738845 . C G 0.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=43.91;MQ0=0;OQ=99.89;QD=4.99;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.432G>C;refseq.codingCoordStr_5=c.432G>C;refseq.codingCoordStr_6=c.432G>C;refseq.codingCoordStr_7=c.432G>C;refseq.codonCoord_4=144;refseq.codonCoord_5=144;refseq.codonCoord_6=144;refseq.codonCoord_7=144;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738845;refseq.end_5=14738845;refseq.end_6=14738845;refseq.end_7=14738845;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=888;refseq.mrnaCoord_5=888;refseq.mrnaCoord_6=888;refseq.mrnaCoord_7=888;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.T144T;refseq.proteinCoordStr_5=p.T144T;refseq.proteinCoordStr_6=p.T144T;refseq.proteinCoordStr_7=p.T144T;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.spliceDist_4=-56;refseq.spliceDist_5=-56;refseq.spliceDist_6=-56;refseq.spliceDist_7=-56;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738845;refseq.start_5=14738845;refseq.start_6=14738845;refseq.start_7=14738845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;refseq.variantCodon_7=ACC;set=filterInsoap-gatk GT 1/0 chr19 14738848 . G A 6 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=43.89;MQ0=4;OQ=152.74;QD=5.87;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.429C>T;refseq.codingCoordStr_5=c.429C>T;refseq.codingCoordStr_6=c.429C>T;refseq.codingCoordStr_7=c.429C>T;refseq.codonCoord_4=143;refseq.codonCoord_5=143;refseq.codonCoord_6=143;refseq.codonCoord_7=143;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738848;refseq.end_5=14738848;refseq.end_6=14738848;refseq.end_7=14738848;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=885;refseq.mrnaCoord_5=885;refseq.mrnaCoord_6=885;refseq.mrnaCoord_7=885;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.Y143Y;refseq.proteinCoordStr_5=p.Y143Y;refseq.proteinCoordStr_6=p.Y143Y;refseq.proteinCoordStr_7=p.Y143Y;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.spliceDist_4=-59;refseq.spliceDist_5=-59;refseq.spliceDist_6=-59;refseq.spliceDist_7=-59;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738848;refseq.start_5=14738848;refseq.start_6=14738848;refseq.start_7=14738848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;refseq.variantCodon_6=TAT;refseq.variantCodon_7=TAT;set=filterInsoap-gatk GT 1/1 chr19 14738857 . G A 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=30.90;MQ=31.33;MQ0=38;OQ=217.30;QD=3.56;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_4=c.420C>T;refseq.codingCoordStr_5=c.420C>T;refseq.codingCoordStr_6=c.420C>T;refseq.codingCoordStr_7=c.420C>T;refseq.codonCoord_4=140;refseq.codonCoord_5=140;refseq.codonCoord_6=140;refseq.codonCoord_7=140;refseq.end_1=14744143;refseq.end_2=14744143;refseq.end_3=14744143;refseq.end_4=14738857;refseq.end_5=14738857;refseq.end_6=14738857;refseq.end_7=14738857;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_4=876;refseq.mrnaCoord_5=876;refseq.mrnaCoord_6=876;refseq.mrnaCoord_7=876;refseq.name2_1=EMR2;refseq.name2_2=EMR2;refseq.name2_3=EMR2;refseq.name2_4=EMR2;refseq.name2_5=EMR2;refseq.name2_6=EMR2;refseq.name2_7=EMR2;refseq.name_1=NM_152918;refseq.name_2=NM_152917;refseq.name_3=NM_152921;refseq.name_4=NM_013447;refseq.name_5=NM_152916;refseq.name_6=NM_152919;refseq.name_7=NM_152920;refseq.numMatchingRecords=7;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.L140L;refseq.proteinCoordStr_5=p.L140L;refseq.proteinCoordStr_6=p.L140L;refseq.proteinCoordStr_7=p.L140L;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_4=CTC;refseq.referenceCodon_5=CTC;refseq.referenceCodon_6=CTC;refseq.referenceCodon_7=CTC;refseq.spliceDist_4=65;refseq.spliceDist_5=65;refseq.spliceDist_6=65;refseq.spliceDist_7=65;refseq.start_1=14737393;refseq.start_2=14737627;refseq.start_3=14737627;refseq.start_4=14738857;refseq.start_5=14738857;refseq.start_6=14738857;refseq.start_7=14738857;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_4=CTT;refseq.variantCodon_5=CTT;refseq.variantCodon_6=CTT;refseq.variantCodon_7=CTT;set=soap-filterIngatk GT 1/1 chr19 14771438 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=413;Dels=0.00;HRun=3;HaplotypeScore=15.04;MQ=97.43;MQ0=0;OQ=17605.61;QD=42.63;RankSumP=1.00000;SB=-6034.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.511G>A;refseq.codonCoord=171;refseq.end=14771438;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=511;refseq.name=NM_198944;refseq.name2=OR7C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E171K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-453;refseq.start=14771438;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr19 14771440 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=20.99;MQ=97.44;MQ0=0;OQ=8859.02;QD=21.19;RankSumP=0.429200;SB=-2458.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.509C>T;refseq.codonCoord=170;refseq.end=14771440;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_198944;refseq.name2=OR7C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T170I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-455;refseq.start=14771440;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr19 14771573 . C T 278.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=96.27;MQ0=0;OQ=5032.71;QD=21.79;RankSumP=0.120676;SB=-1171.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.376G>A;refseq.codonCoord=126;refseq.end=14771573;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_198944;refseq.name2=OR7C1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V126I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=376;refseq.start=14771573;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr19 14799389 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=4.93422e-09;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.665T>G;refseq.codonCoord=222;refseq.end=14799389;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_017506;refseq.name2=OR7A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I222S;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=888;refseq.start=14799389;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 0/1 chr19 14799616 . T C 174.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=191;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=97.05;MQ0=0;OQ=3125.23;QD=16.36;RankSumP=0.0647822;SB=-1267.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.438A>G;refseq.codonCoord=146;refseq.end=14799616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_017506;refseq.name2=OR7A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L146L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=661;refseq.start=14799616;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 14812898 . G T 118.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=98.08;MQ0=0;OQ=5488.68;QD=19.26;RankSumP=0.146317;SB=-2332.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.792C>A;refseq.codonCoord=264;refseq.end=14812898;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=792;refseq.name=NM_001005190;refseq.name2=OR7A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-139;refseq.start=14812898;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr19 14852439 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=1;HaplotypeScore=9.94;MQ=88.25;MQ0=18;OQ=5527.46;QD=16.26;RankSumP=0.179561;SB=-2234.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.729A>C;refseq.codonCoord=243;refseq.end=14852439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_030901;refseq.name2=OR7A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.S243S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-202;refseq.start=14852439;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 14852459 . C T 214.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=85.32;MQ0=37;OQ=6542.34;QD=16.73;RankSumP=0.0220597;SB=-2449.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.709G>A;refseq.codonCoord=237;refseq.end=14852459;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=709;refseq.name=NM_030901;refseq.name2=OR7A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.A237T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-222;refseq.start=14852459;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 14852643 . G A 257.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=6.24;MQ=92.61;MQ0=7;OQ=4408.30;QD=19.42;RankSumP=0.00124276;SB=-1453.57;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.525C>T;refseq.codonCoord=175;refseq.end=14852643;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_030901;refseq.name2=OR7A17;refseq.positionType=CDS;refseq.proteinCoordStr=p.P175P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-406;refseq.start=14852643;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr19 14913982 . G T 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.392857;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.682G>T;refseq.codonCoord=228;refseq.end=14913982;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_012377;refseq.name2=OR7C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V228L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-279;refseq.start=14913982;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr19 14913983 . T C 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.631818;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.683T>C;refseq.codonCoord=228;refseq.end=14913983;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_012377;refseq.name2=OR7C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V228A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-278;refseq.start=14913983;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr19 14913987 . T A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.268132;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.687T>A;refseq.codonCoord=229;refseq.end=14913987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_012377;refseq.name2=OR7C2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S229S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-274;refseq.start=14913987;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr19 14944693 . C A 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=94.71;MQ0=0;OQ=738.82;QD=27.36;RankSumP=1.00000;SB=-130.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.30G>T;refseq.codonCoord=10;refseq.end=14944693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=38;refseq.name=NM_005071;refseq.name2=SLC1A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L10L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=38;refseq.start=14944693;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr19 14982960 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=3;RankSumP=0.404040;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.323G>C;refseq.codonCoord=108;refseq.end=14982960;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_173482;refseq.name2=CCDC105;refseq.positionType=CDS;refseq.proteinCoordStr=p.R108P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-248;refseq.start=14982960;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 15059024 . A T 181.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=5.74;MQ=98.57;MQ0=0;OQ=4194.42;QD=17.62;RankSumP=0.227835;SB=-1586.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.148A>T;refseq.codonCoord=50;refseq.end=15059024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=148;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I50F;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=148;refseq.start=15059024;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr19 15059263 . A G 288.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=98.16;MQ0=0;OQ=4752.27;QD=34.94;RankSumP=1.00000;SB=-1394.16;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.387A>G;refseq.codonCoord=129;refseq.end=15059263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=387;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P129P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=387;refseq.start=15059263;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 15059292 . C G 418.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.57;MQ0=0;OQ=6076.33;QD=41.34;RankSumP=1.00000;SB=-2910.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.416C>G;refseq.codonCoord=139;refseq.end=15059292;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P139R;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=416;refseq.start=15059292;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr19 15059441 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=346;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=98.90;MQ0=0;OQ=6635.78;QD=19.18;RankSumP=0.372123;SB=-2722.50;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.565G>T;refseq.codonCoord=189;refseq.end=15059441;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G189C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-504;refseq.start=15059441;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr19 15059507 . T C 300.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=98.81;MQ0=0;OQ=12683.75;QD=40.78;RankSumP=1.00000;SB=-5382.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.631T>C;refseq.codonCoord=211;refseq.end=15059507;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=631;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F211L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-438;refseq.start=15059507;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr19 15059606 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=208;Dels=0.00;HRun=0;HaplotypeScore=6.49;MQ=98.69;MQ0=0;OQ=4418.48;QD=21.24;RankSumP=0.130449;SB=-1362.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.730C>T;refseq.codonCoord=244;refseq.end=15059606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=730;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H244Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-339;refseq.start=15059606;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr19 15059631 . A C 163.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.46;MQ0=0;OQ=3153.98;QD=13.36;RankSumP=0.148703;SB=-1528.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.755A>C;refseq.codonCoord=252;refseq.end=15059631;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y252S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-314;refseq.start=15059631;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr19 15059751 . T C 270.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=457;Dels=0.00;HRun=0;HaplotypeScore=12.18;MQ=98.72;MQ0=0;OQ=9775.76;QD=21.39;RankSumP=0.00215911;SB=-3591.02;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.875T>C;refseq.codonCoord=292;refseq.end=15059751;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=875;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I292T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-194;refseq.start=15059751;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr19 15059764 . T C 255.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=444;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.77;MQ0=0;OQ=18021.94;QD=40.59;RankSumP=1.00000;SB=-7197.23;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.888T>C;refseq.codonCoord=296;refseq.end=15059764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D296D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-181;refseq.start=15059764;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr19 15059851 . A T 132.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=98.32;MQ0=0;OQ=1243.23;QD=15.35;RankSumP=0.382484;SB=-28.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.975A>T;refseq.codonCoord=325;refseq.end=15059851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=975;refseq.name=NM_001004713;refseq.name2=OR1I1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P325P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-94;refseq.start=15059851;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 15085440 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1874A>C;refseq.codonCoord=625;refseq.end=15085440;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_033025;refseq.name2=SYDE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H625P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=70;refseq.start=15085440;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 15087970 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.88;MQ0=0;OQ=616.65;QD=19.27;RankSumP=0.616152;SB=-257.56;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1464C>T;refseq.codonCoord=488;refseq.end=15087970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1585;refseq.name=NM_006844;refseq.name2=ILVBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L488L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=15087970;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr19 15088030 . G A 121.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=98.91;MQ0=0;OQ=850.40;QD=18.49;RankSumP=0.185281;SB=-290.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1404C>T;refseq.codonCoord=468;refseq.end=15088030;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1525;refseq.name=NM_006844;refseq.name2=ILVBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G468G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-68;refseq.start=15088030;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 15090993 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=12.55;MQ=98.65;MQ0=0;OQ=2185.07;QD=9.34;RankSumP=0.306089;SB=-1103.52;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=15090993;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_006844;refseq.name2=ILVBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D345D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-17;refseq.start=15090993;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 15137624 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.5641A>C;refseq.codonCoord=1881;refseq.end=15137624;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5717;refseq.name=NM_000435;refseq.name2=NOTCH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1881P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-27;refseq.start=15137624;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr19 15156166 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2506A>C;refseq.codonCoord=836;refseq.end=15156166;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2582;refseq.name=NM_000435;refseq.name2=NOTCH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T836P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-61;refseq.start=15156166;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 15163289 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.982A>C;refseq.codonCoord=328;refseq.end=15163289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1058;refseq.name=NM_000435;refseq.name2=NOTCH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T328P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-55;refseq.start=15163289;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 15203151 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.386T>G;refseq.codingCoordStr_2=c.386T>G;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.end_1=15203151;refseq.end_2=15203151;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=559;refseq.mrnaCoord_2=595;refseq.name2_1=EPHX3;refseq.name2_2=EPHX3;refseq.name_1=NM_001142886;refseq.name_2=NM_024794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V129G;refseq.proteinCoordStr_2=p.V129G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=15203151;refseq.start_2=15203151;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 15203858 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=1;RankSumP=0.132106;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.165C>G;refseq.codingCoordStr_2=c.165C>G;refseq.codonCoord_1=55;refseq.codonCoord_2=55;refseq.end_1=15203858;refseq.end_2=15203858;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=338;refseq.mrnaCoord_2=374;refseq.name2_1=EPHX3;refseq.name2_2=EPHX3;refseq.name_1=NM_001142886;refseq.name_2=NM_024794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C55W;refseq.proteinCoordStr_2=p.C55W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-79;refseq.spliceDist_2=-79;refseq.start_1=15203858;refseq.start_2=15203858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 0/1 chr19 15440500 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1705A>C;refseq.codonCoord=569;refseq.end=15440500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1838;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T569P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-44;refseq.start=15440500;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 15440510 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1695A>C;refseq.codonCoord=565;refseq.end=15440510;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1828;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P565P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=54;refseq.start=15440510;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 15441658 . G A 202.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=97.68;MQ0=0;OQ=629.35;QD=19.07;RankSumP=0.334465;SB=-202.72;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1426C>T;refseq.codonCoord=476;refseq.end=15441658;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1559;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R476W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=83;refseq.start=15441658;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr19 15443863 . C T 39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=97.95;MQ0=0;OQ=1567.91;QD=28.00;RankSumP=1.00000;SB=-88.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1181G>A;refseq.codonCoord=394;refseq.end=15443863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R394Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=49;refseq.start=15443863;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 15447672 . A T 272.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1616.47;QD=38.49;RankSumP=1.00000;SB=-775.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.809T>A;refseq.codonCoord=270;refseq.end=15447672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M270K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-324;refseq.start=15447672;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr19 15448185 . C T 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=25.94;MQ=98.62;MQ0=0;OQ=15524.56;QD=40.53;RankSumP=1.00000;SB=-4965.83;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.296G>A;refseq.codonCoord=99;refseq.end=15448185;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R99Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=235;refseq.start=15448185;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 15448345 . T C 266.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2747.90;QD=38.17;RankSumP=1.00000;SB=-781.64;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.136A>G;refseq.codonCoord=46;refseq.end=15448345;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_052890;refseq.name2=PGLYRP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=75;refseq.start=15448345;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 15621015 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=437;Dels=0.00;HRun=0;HaplotypeScore=73.02;MQ=86.14;MQ0=10;OQ=5010.14;QD=11.46;RankSumP=0.294792;SB=-2033.84;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.571A>G;refseq.codonCoord=191;refseq.end=15621015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=621;refseq.name=NM_000896;refseq.name2=CYP4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.M191V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=46;refseq.start=15621015;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 0/1 chr19 15621053 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=526;Dels=0.00;HRun=0;HaplotypeScore=22.70;MQ=84.92;MQ0=24;OQ=7405.96;QD=14.08;RankSumP=0.143130;SB=-2636.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.609G>A;refseq.codonCoord=203;refseq.end=15621053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_000896;refseq.name2=CYP4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L203L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-39;refseq.start=15621053;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr19 15621881 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=653;Dels=0.00;HRun=0;HaplotypeScore=26.58;MQ=56.03;MQ0=223;OQ=7113.11;QD=10.89;RankSumP=0.101836;SB=-1600.62;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.806C>A;refseq.codonCoord=269;refseq.end=15621881;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_000896;refseq.name2=CYP4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A269D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-113;refseq.start=15621881;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 15624691 . G A 299.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=6.74;MQ=77.23;MQ0=37;OQ=5609.97;QD=15.80;RankSumP=0.0354508;SB=-1941.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1044G>A;refseq.codonCoord=348;refseq.end=15624691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_000896;refseq.name2=CYP4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P348P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=59;refseq.start=15624691;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr19 15624721 . G A 185.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=425;Dels=0.00;HRun=0;HaplotypeScore=16.17;MQ=84.76;MQ0=17;OQ=7691.29;QD=18.10;RankSumP=0.0423121;SB=-2504.34;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1074G>A;refseq.codonCoord=358;refseq.end=15624721;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_000896;refseq.name2=CYP4F3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V358V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-42;refseq.start=15624721;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr19 15645386 . C T 441.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.96;MQ0=0;OQ=3221.60;QD=38.35;RankSumP=1.00000;SB=-1454.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.47C>T;refseq.codonCoord=16;refseq.end=15645386;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=108;refseq.name=NM_023944;refseq.name2=CYP4F12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T16M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=48;refseq.start=15645386;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr19 15650098 . A G 272.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=10832.27;QD=41.66;RankSumP=1.00000;SB=-4407.74;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.226A>G;refseq.codonCoord=76;refseq.end=15650098;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=287;refseq.name=NM_023944;refseq.name2=CYP4F12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N76D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=28;refseq.start=15650098;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr19 15650140 . A G 238.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=308;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=95.51;MQ0=0;OQ=12179.75;QD=39.54;RankSumP=1.00000;SB=-5720.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.268A>G;refseq.codonCoord=90;refseq.end=15650140;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=329;refseq.name=NM_023944;refseq.name2=CYP4F12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I90V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=70;refseq.start=15650140;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr19 15654305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.632A>C;refseq.codonCoord=211;refseq.end=15654305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_023944;refseq.name2=CYP4F12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D211A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=15654305;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 15699967 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1044;Dels=0.00;HRun=0;HaplotypeScore=33.75;MQ=49.15;MQ0=460;OQ=9337.46;QD=8.94;RankSumP=0.00301642;SB=-2534.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.114G>A;refseq.codonCoord=38;refseq.end=15699967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=134;refseq.name=NM_013939;refseq.name2=OR10H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T38T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=134;refseq.start=15699967;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr19 15700174 . C T 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=450;Dels=0.00;HRun=2;HaplotypeScore=10.69;MQ=14.64;MQ0=436;OQ=184.38;QD=0.41;RankSumP=0.380952;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=15700174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_013939;refseq.name2=OR10H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F107F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=341;refseq.start=15700174;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr19 15713223 . A C 281.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=436;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=98.70;MQ0=0;OQ=9432.10;QD=21.63;RankSumP=0.482043;SB=-1201.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.21A>C;refseq.codonCoord=7;refseq.end=15713223;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=21;refseq.name=NM_013938;refseq.name2=OR10H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R7S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=21;refseq.start=15713223;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr19 15713495 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=2172;Dels=0.00;HRun=2;HaplotypeScore=330.86;MQ=95.09;MQ0=0;OQ=2675.50;QD=1.23;RankSumP=0.00000;SB=3535.71;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.293G>T;refseq.codonCoord=98;refseq.end=15713495;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_013938;refseq.name2=OR10H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C98F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=293;refseq.start=15713495;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr19 15713872 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1093;Dels=0.00;HRun=0;HaplotypeScore=69.95;MQ=92.05;MQ0=0;OQ=21166.53;QD=19.37;RankSumP=0.134607;SB=-6959.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.670G>A;refseq.codonCoord=224;refseq.end=15713872;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_013938;refseq.name2=OR10H3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V224M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-282;refseq.start=15713872;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/0 chr19 15766002 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=639;Dels=0.00;HRun=1;HaplotypeScore=18.99;MQ=68.03;MQ0=132;OQ=5835.15;QD=9.13;RankSumP=0.00229918;SB=-2214.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.144T>C;refseq.codonCoord=48;refseq.end=15766002;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=144;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T48T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=144;refseq.start=15766002;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr19 15766289 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=70.84;MQ0=27;OQ=2699.02;QD=11.84;RankSumP=3.12863e-06;SB=-1109.22;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.431G>T;refseq.codonCoord=144;refseq.end=15766289;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R144L;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=431;refseq.start=15766289;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 0/1 chr19 15766431 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=80.34;MQ0=42;OQ=2606.23;QD=8.72;RankSumP=0.162230;SB=-766.04;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.573T>C;refseq.codonCoord=191;refseq.end=15766431;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=573;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D191D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-376;refseq.start=15766431;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 15766468 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=49.69;MQ0=217;OQ=922.37;QD=2.58;RankSumP=0.359082;SB=-5.74;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.610T>G;refseq.codonCoord=204;refseq.end=15766468;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=610;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C204G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-339;refseq.start=15766468;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 15766505 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=512;Dels=0.00;HRun=2;HaplotypeScore=14.00;MQ=32.47;MQ0=437;OQ=673.13;QD=1.31;RankSumP=0.201848;SB=-75.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.647T>C;refseq.codonCoord=216;refseq.end=15766505;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-302;refseq.start=15766505;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 15766529 . C A 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=16.74;MQ=25.38;MQ0=479;OQ=304.01;QD=0.58;RankSumP=0.675473;SB=-71.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.671C>A;refseq.codonCoord=224;refseq.end=15766529;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_001004466;refseq.name2=OR10H5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A224D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-278;refseq.start=15766529;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 15779201 . A G 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.0835481;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.647T>C;refseq.codonCoord=216;refseq.end=15779201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=736;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-385;refseq.start=15779201;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr19 15779238 . A C 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=455;Dels=0.00;HRun=1;HaplotypeScore=11.78;MQ=48.00;MQ0=260;OQ=239.42;QD=0.53;RankSumP=0.147749;SB=97.15;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.610T>G;refseq.codonCoord=204;refseq.end=15779238;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=699;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C204G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-422;refseq.start=15779238;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 15779380 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=285;Dels=0.00;HRun=1;HaplotypeScore=14.08;MQ=68.84;MQ0=53;OQ=4263.00;QD=14.96;RankSumP=0.203858;SB=-1423.83;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.468G>A;refseq.codonCoord=156;refseq.end=15779380;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G156G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=557;refseq.start=15779380;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 0/1 chr19 15779500 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=19.51;MQ0=303;OQ=364.02;QD=1.08;RankSumP=0.703131;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.348C>T;refseq.codonCoord=116;refseq.end=15779500;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=437;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T116T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=437;refseq.start=15779500;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 15779647 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=42.38;MQ0=60;OQ=230.60;QD=1.13;RankSumP=0.685849;SB=103.11;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.201C>A;refseq.codonCoord=67;refseq.end=15779647;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S67S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=290;refseq.start=15779647;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 0/1 chr19 15779654 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=45.19;MQ0=58;OQ=372.01;QD=1.76;RankSumP=0.152826;SB=120.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.194C>T;refseq.codonCoord=65;refseq.end=15779654;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A65V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=283;refseq.start=15779654;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=soap-filterIngatk GT 1/0 chr19 15779802 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=548;Dels=0.00;HRun=1;HaplotypeScore=18.75;MQ=86.04;MQ0=33;OQ=10860.58;QD=19.82;RankSumP=1.45003e-05;SB=-2898.32;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.46G>C;refseq.codonCoord=16;refseq.end=15779802;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_013940;refseq.name2=OR10H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G16R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=135;refseq.start=15779802;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/0 chr19 15850696 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.224449;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1448C>G;refseq.codonCoord=483;refseq.end=15850696;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1498;refseq.name=NM_001082;refseq.name2=CYP4F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A483G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=51;refseq.start=15850696;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr19 15850730 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=188;Dels=0.00;HRun=1;HaplotypeScore=5.74;MQ=59.89;MQ0=18;OQ=703.55;QD=3.74;RankSumP=0.280759;SB=-357.91;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1414A>G;refseq.codonCoord=472;refseq.end=15850730;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1464;refseq.name=NM_001082;refseq.name2=CYP4F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T472A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=17;refseq.start=15850730;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr19 15857820 . G A 199.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=8.15;MQ=92.45;MQ0=0;OQ=11731.74;QD=40.74;RankSumP=1.00000;SB=-3953.48;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1029C>T;refseq.codonCoord=343;refseq.end=15857820;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1079;refseq.name=NM_001082;refseq.name2=CYP4F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H343H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=44;refseq.start=15857820;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr19 15885662 . G C 451.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=97.92;MQ0=0;OQ=5315.79;QD=39.97;RankSumP=1.00000;SB=-2526.53;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1455C>G;refseq.codingCoordStr_2=c.1455C>G;refseq.codonCoord_1=485;refseq.codonCoord_2=485;refseq.end_1=15885662;refseq.end_2=15885662;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1491;refseq.mrnaCoord_2=1913;refseq.name2_1=CYP4F11;refseq.name2_2=CYP4F11;refseq.name_1=NM_001128932;refseq.name_2=NM_021187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T485T;refseq.proteinCoordStr_2=p.T485T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=15885662;refseq.start_2=15885662;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 15886176 . C T 328.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.48;MQ0=0;OQ=6575.48;QD=42.15;RankSumP=1.00000;SB=-2305.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1336G>A;refseq.codingCoordStr_2=c.1336G>A;refseq.codonCoord_1=446;refseq.codonCoord_2=446;refseq.end_1=15886176;refseq.end_2=15886176;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1372;refseq.mrnaCoord_2=1794;refseq.name2_1=CYP4F11;refseq.name2_2=CYP4F11;refseq.name_1=NM_001128932;refseq.name_2=NM_021187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D446N;refseq.proteinCoordStr_2=p.D446N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.start_1=15886176;refseq.start_2=15886176;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr19 15895714 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=519;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=96.50;MQ0=0;OQ=18672.14;QD=35.98;RankSumP=1.00000;SB=-9096.75;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.826T>C;refseq.codingCoordStr_2=c.826T>C;refseq.codonCoord_1=276;refseq.codonCoord_2=276;refseq.end_1=15895714;refseq.end_2=15895714;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=862;refseq.mrnaCoord_2=1284;refseq.name2_1=CYP4F11;refseq.name2_2=CYP4F11;refseq.name_1=NM_001128932;refseq.name_2=NM_021187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C276R;refseq.proteinCoordStr_2=p.C276R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-93;refseq.spliceDist_2=-93;refseq.start_1=15895714;refseq.start_2=15895714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 15901292 . A G 333.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.41;MQ0=0;OQ=3156.90;QD=33.58;RankSumP=1.00000;SB=-1551.25;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.318T>C;refseq.codingCoordStr_2=c.318T>C;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.end_1=15901292;refseq.end_2=15901292;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=354;refseq.mrnaCoord_2=776;refseq.name2_1=CYP4F11;refseq.name2_2=CYP4F11;refseq.name_1=NM_001128932;refseq.name_2=NM_021187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I106I;refseq.proteinCoordStr_2=p.I106I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=15901292;refseq.start_2=15901292;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr19 15906141 . T C 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.81;MQ=97.26;MQ0=0;OQ=1511.72;QD=31.49;RankSumP=1.00000;SB=-737.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.78A>G;refseq.codingCoordStr_2=c.78A>G;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=15906141;refseq.end_2=15906141;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=114;refseq.mrnaCoord_2=536;refseq.name2_1=CYP4F11;refseq.name2_2=CYP4F11;refseq.name_1=NM_001128932;refseq.name_2=NM_021187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G26G;refseq.proteinCoordStr_2=p.G26G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=79;refseq.spliceDist_2=-121;refseq.start_1=15906141;refseq.start_2=15906141;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr19 15921110 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=2079;Dels=0.00;HRun=2;HaplotypeScore=196.66;MQ=94.07;MQ0=13;OQ=865.03;QD=0.42;RankSumP=0.00000;SB=3321.93;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.293G>T;refseq.codonCoord=98;refseq.end=15921110;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_001004465;refseq.name2=OR10H4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C98F;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=293;refseq.start=15921110;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr19 16083738 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.85;MQ0=0;OQ=2146.95;QD=16.64;RankSumP=0.235954;SB=-992.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.27C>T;refseq.codonCoord=9;refseq.end=16083738;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_005370;refseq.name2=RAB8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F9F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-98;refseq.start=16083738;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr19 16099279 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=15.88;MQ=98.74;MQ0=0;OQ=5155.93;QD=19.03;RankSumP=0.293319;SB=-1421.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.357C>T;refseq.codonCoord=119;refseq.end=16099279;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=579;refseq.name=NM_005370;refseq.name2=RAB8A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L119L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=33;refseq.start=16099279;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr19 16136655 . C T 278.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=494;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=98.64;MQ0=0;OQ=19088.68;QD=38.64;RankSumP=1.00000;SB=-5859.71;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.416G>A;refseq.codonCoord=139;refseq.end=16136655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=416;refseq.name=NM_054113;refseq.name2=CIB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G139E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=70;refseq.start=16136655;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr19 16200715 . C T 192.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=5.86;MQ=98.79;MQ0=0;OQ=4023.97;QD=17.81;RankSumP=0.231649;SB=-828.64;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1059C>T;refseq.codingCoordStr_2=c.1023C>T;refseq.codonCoord_1=353;refseq.codonCoord_2=341;refseq.end_1=16200715;refseq.end_2=16200715;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1232;refseq.mrnaCoord_2=1196;refseq.name2_1=AP1M1;refseq.name2_2=AP1M1;refseq.name_1=NM_001130524;refseq.name_2=NM_032493;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I353I;refseq.proteinCoordStr_2=p.I341I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=16200715;refseq.start_2=16200715;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr19 16297262 . T C 40.55 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=13.52;RankSumP=1.00000;SB=-42.96;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.311T>C;refseq.codonCoord=104;refseq.end=16297262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_016270;refseq.name2=KLF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=236;refseq.start=16297262;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chr19 16333735 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2441T>C;refseq.codonCoord=814;refseq.end=16333735;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2447;refseq.name=NM_021235;refseq.name2=EPS15L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F814S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=61;refseq.start=16333735;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr19 16452464 . G A 401.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=5756.59;QD=43.28;RankSumP=1.00000;SB=-2833.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.972C>T;refseq.codonCoord=324;refseq.end=16452464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1035;refseq.name=NM_145046;refseq.name2=CALR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y324Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-40;refseq.start=16452464;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr19 16462194 . C T 325.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=99.00;MQ0=0;OQ=10203.54;QD=37.65;RankSumP=1.00000;SB=-3058.50;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.381G>A;refseq.codonCoord=127;refseq.end=16462194;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_145046;refseq.name2=CALR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q127Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-17;refseq.start=16462194;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 16472978 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=2.58;MQ=98.14;MQ0=0;OQ=1535.84;QD=11.29;RankSumP=0.0119036;SB=-625.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.375T>C;refseq.codonCoord=125;refseq.end=16472978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_032207;refseq.name2=C19orf44;refseq.positionType=CDS;refseq.proteinCoordStr=p.A125A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=376;refseq.start=16472978;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr19 16473011 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.71;MQ0=0;OQ=1421.54;QD=11.56;RankSumP=0.109415;SB=-558.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.408T>C;refseq.codonCoord=136;refseq.end=16473011;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=481;refseq.name=NM_032207;refseq.name2=C19orf44;refseq.positionType=CDS;refseq.proteinCoordStr=p.S136S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-352;refseq.start=16473011;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 16494950 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.77;MQ0=0;OQ=1047.23;QD=28.30;RankSumP=1.00000;SB=-332.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1893A>G;refseq.codonCoord=631;refseq.end=16494950;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1967;refseq.name=NM_006387;refseq.name2=CHERP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P631P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-88;refseq.start=16494950;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 16527101 . G C 178.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=560;Dels=0.00;HRun=0;HaplotypeScore=19.91;MQ=98.81;MQ0=0;OQ=9930.70;QD=17.73;RankSumP=0.435780;SB=-3149.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.864C>G;refseq.codonCoord=288;refseq.end=16527101;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=882;refseq.name=NM_024881;refseq.name2=SLC35E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=108;refseq.start=16527101;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr19 16721087 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.229G>C;refseq.codonCoord=77;refseq.end=16721087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1708;refseq.name=NM_001007525;refseq.name2=NWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A77P;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=138;refseq.start=16721087;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr19 16721105 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=47.72;MQ=95.09;MQ0=0;OQ=6110.25;QD=28.96;RankSumP=1.00000;SB=-769.65;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.247G>A;refseq.codonCoord=83;refseq.end=16721105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1726;refseq.name=NM_001007525;refseq.name2=NWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A83T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=156;refseq.start=16721105;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr19 16760838 . A T 406.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=2718.10;QD=38.83;RankSumP=1.00000;SB=-1159.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2372A>T;refseq.codonCoord=791;refseq.end=16760838;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3851;refseq.name=NM_001007525;refseq.name2=NWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N791I;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=46;refseq.start=16760838;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr19 16837286 . A G 90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=20.87;MQ=98.01;MQ0=0;OQ=10934.75;QD=38.10;RankSumP=1.00000;SB=-4201.34;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1545A>G;refseq.codonCoord=515;refseq.end=16837286;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1559;refseq.name=NM_015260;refseq.name2=SIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L515L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=66;refseq.start=16837286;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 16850080 . T G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.500019;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3137T>G;refseq.codonCoord=1046;refseq.end=16850080;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3151;refseq.name=NM_015260;refseq.name2=SIN3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1046G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=87;refseq.start=16850080;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 16865049 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=158.54;QD=15.85;RankSumP=0.547619;SB=-41.66;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.5669A>G;refseq.codonCoord=1890;refseq.end=16865049;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5701;refseq.name=NM_015692;refseq.name2=CPAMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1890R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=102;refseq.start=16865049;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr19 16869578 . G C 160.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=432.77;QD=15.46;RankSumP=0.510315;SB=-186.47;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.5130C>G;refseq.codonCoord=1710;refseq.end=16869578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5162;refseq.name=NM_015692;refseq.name2=CPAMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1710T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=35;refseq.start=16869578;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr19 16878878 . G A 180.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.70;MQ0=0;OQ=2222.55;QD=19.16;RankSumP=0.286046;SB=-1031.56;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4052C>T;refseq.codonCoord=1351;refseq.end=16878878;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4084;refseq.name=NM_015692;refseq.name2=CPAMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1351V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=50;refseq.start=16878878;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 16972305 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.927T>G;refseq.codonCoord=309;refseq.end=16972305;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_015692;refseq.name2=CPAMD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.G309G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=28;refseq.start=16972305;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 17031885 . C T 219.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=13.74;MQ=98.81;MQ0=0;OQ=7468.64;QD=18.40;RankSumP=0.297161;SB=-1884.11;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.244G>A;refseq.codingCoordStr_2=c.247G>A;refseq.codonCoord_1=82;refseq.codonCoord_2=83;refseq.end_1=17031885;refseq.end_2=17031885;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=358;refseq.name2_1=HAUS8;refseq.name2_2=HAUS8;refseq.name_1=NM_001011699;refseq.name_2=NM_033417;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G82R;refseq.proteinCoordStr_2=p.G83R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=15;refseq.spliceDist_2=18;refseq.start_1=17031885;refseq.start_2=17031885;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr19 17216759 . T G 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.0137363;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.271A>C;refseq.codonCoord=91;refseq.end=17216759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=393;refseq.name=NM_005234;refseq.name2=NR2F6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=17216759;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr19 17222064 . C T 83.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=211.57;QD=17.63;RankSumP=0.463636;SB=-45.66;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2082G>A;refseq.codonCoord=694;refseq.end=17222064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2195;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P694P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=160;refseq.start=17222064;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 17222116 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=98.53;MQ0=0;OQ=922.42;QD=12.64;RankSumP=0.0159611;SB=-96.59;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2030C>T;refseq.codonCoord=677;refseq.end=17222116;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A677V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=108;refseq.start=17222116;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 17223805 . C A 17.48 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=99.00;MQ0=0;QD=1.75;SB=-32.89;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1714G>T;refseq.codonCoord=572;refseq.end=17223805;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1827;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G572C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=22;refseq.start=17223805;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:8,2:10:-8.03,-3.01,-32.98:50.24 chr19 17227278 . T C 156.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=4.37;MQ=97.54;MQ0=0;OQ=2466.56;QD=32.45;RankSumP=1.00000;SB=-1141.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1608A>G;refseq.codonCoord=536;refseq.end=17227278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1721;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A536A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-85;refseq.start=17227278;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 17227313 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.88;MQ0=0;OQ=609.65;QD=12.70;RankSumP=0.535540;SB=-248.78;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1573G>A;refseq.codonCoord=525;refseq.end=17227313;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1686;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V525M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=103;refseq.start=17227313;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 17228435 . T C 128.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=99.00;MQ0=0;OQ=633.25;QD=14.39;RankSumP=0.703349;SB=-98.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1315A>G;refseq.codonCoord=439;refseq.end=17228435;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_031941;refseq.name2=USHBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M439V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=95;refseq.start=17228435;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 17277709 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.000725281;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.8T>G;refseq.codonCoord=3;refseq.end=17277709;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_023937;refseq.name2=MRPL34;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-58;refseq.start=17277709;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr19 17295587 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3438A>C;refseq.codonCoord=1146;refseq.end=17295587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3597;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1146A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=107;refseq.start=17295587;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 17296884 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=4;HaplotypeScore=2.94;MQ=96.59;MQ0=0;OQ=1786.74;QD=34.36;RankSumP=1.00000;SB=-749.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2973A>G;refseq.codonCoord=991;refseq.end=17296884;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3132;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S991S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=312;refseq.start=17296884;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr19 17296887 . C T 140.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=96.77;MQ0=0;OQ=913.88;QD=16.32;RankSumP=0.227263;SB=-417.15;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2970G>A;refseq.codonCoord=990;refseq.end=17296887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3129;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S990S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=309;refseq.start=17296887;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 17299496 . A C 27 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=6;RankSumP=5.76355e-08;SecondBestBaseQ=11;refseq.chr=chr19;refseq.codingCoordStr=c.2418+2;refseq.end=17299496;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=17299496;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr19 17299642 . A G 301.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.92;MQ0=0;OQ=1449.97;QD=34.52;RankSumP=1.00000;SB=-543.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2274T>C;refseq.codonCoord=758;refseq.end=17299642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2433;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V758V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=48;refseq.start=17299642;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 17303115 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.692A>C;refseq.codonCoord=231;refseq.end=17303115;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N231T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=17303115;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 17304750 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=2.53372e-05;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.575A>C;refseq.codonCoord=192;refseq.end=17304750;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_020959;refseq.name2=ANO8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D192A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-12;refseq.start=17304750;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 17309961 . A C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.35;MQ0=0;OQ=701.87;QD=30.52;RankSumP=1.00000;SB=-342.02;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.198A>C;refseq.codingCoordStr_2=c.198A>C;refseq.codingCoordStr_3=c.198A>C;refseq.codonCoord_1=66;refseq.codonCoord_2=66;refseq.codonCoord_3=66;refseq.end_1=17309961;refseq.end_2=17309961;refseq.end_3=17309961;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=263;refseq.mrnaCoord_2=263;refseq.mrnaCoord_3=263;refseq.name2_1=GTPBP3;refseq.name2_2=GTPBP3;refseq.name2_3=GTPBP3;refseq.name_1=NM_001128855;refseq.name_2=NM_032620;refseq.name_3=NM_133644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T66T;refseq.proteinCoordStr_2=p.T66T;refseq.proteinCoordStr_3=p.T66T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.spliceDist_3=-104;refseq.start_1=17309961;refseq.start_2=17309961;refseq.start_3=17309961;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr19 17311016 . T C 268.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=99.00;MQ0=0;OQ=2353.98;QD=33.63;RankSumP=1.00000;SB=-204.41;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.749T>C;refseq.codingCoordStr_2=c.749T>C;refseq.codingCoordStr_3=c.845T>C;refseq.codonCoord_1=250;refseq.codonCoord_2=250;refseq.codonCoord_3=282;refseq.end_1=17311016;refseq.end_2=17311016;refseq.end_3=17311016;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=814;refseq.mrnaCoord_2=814;refseq.mrnaCoord_3=910;refseq.name2_1=GTPBP3;refseq.name2_2=GTPBP3;refseq.name2_3=GTPBP3;refseq.name_1=NM_001128855;refseq.name_2=NM_032620;refseq.name_3=NM_133644;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V250A;refseq.proteinCoordStr_2=p.V250A;refseq.proteinCoordStr_3=p.V282A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.spliceDist_3=-60;refseq.start_1=17311016;refseq.start_2=17311016;refseq.start_3=17311016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr19 17337145 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=397;Dels=0.00;HRun=1;HaplotypeScore=11.83;MQ=98.76;MQ0=0;OQ=6018.53;QD=15.16;RankSumP=0.222568;SB=-1463.76;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1129A>T;refseq.codonCoord=377;refseq.end=17337145;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_031310;refseq.name2=PLVAP;refseq.positionType=CDS;refseq.proteinCoordStr=p.M377L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-51;refseq.start=17337145;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr19 17427634 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=95.37;MQ0=0;OQ=183.54;QD=7.65;RankSumP=0.326951;SB=-115.91;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.461A>T;refseq.codonCoord=154;refseq.end=17427634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_138454;refseq.name2=NXNL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E154V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=135;refseq.start=17427634;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 17442407 . C G 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=1;RankSumP=0.554196;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.58C>G;refseq.codonCoord=20;refseq.end=17442407;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=108;refseq.name=NM_198580;refseq.name2=SLC27A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L20V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=108;refseq.start=17442407;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr19 17483512 . G A 11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=69.99;QD=10.00;RankSumP=0.266667;SB=-43.53;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.31G>A;refseq.codonCoord=11;refseq.end=17483512;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=81;refseq.name=NM_012088;refseq.name2=PGLS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V11M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=81;refseq.start=17483512;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=filterInsoap-gatk GT 1/0 chr19 17483614 . C T 13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=96.51;MQ0=0;OQ=169.53;QD=24.22;RankSumP=1.00000;SB=-91.11;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.133C>T;refseq.codonCoord=45;refseq.end=17483614;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_012088;refseq.name2=PGLS;refseq.positionType=CDS;refseq.proteinCoordStr=p.L45L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-156;refseq.start=17483614;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 1/1 chr19 17489587 . A G 142.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=12.31;MQ=98.30;MQ0=0;OQ=14257.03;QD=32.93;RankSumP=1.00000;SB=-5676.49;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.567A>G;refseq.codonCoord=189;refseq.end=17489587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_012088;refseq.name2=PGLS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T189T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=69;refseq.start=17489587;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 17499200 . A G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.144A>G;refseq.codingCoordStr_2=c.144A>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=17499200;refseq.end_2=17499200;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=282;refseq.mrnaCoord_2=282;refseq.name2_1=FAM129C;refseq.name2_2=FAM129C;refseq.name_1=NM_001098524;refseq.name_2=NM_173544;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L48L;refseq.proteinCoordStr_2=p.L48L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=17499200;refseq.start_2=17499200;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 0/1 chr19 17509320 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.656C>G;refseq.codingCoordStr_2=c.656C>G;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=17509320;refseq.end_2=17509320;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=794;refseq.mrnaCoord_2=794;refseq.name2_1=FAM129C;refseq.name2_2=FAM129C;refseq.name_1=NM_001098524;refseq.name_2=NM_173544;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A219G;refseq.proteinCoordStr_2=p.A219G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=17509320;refseq.start_2=17509320;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr19 17509350 . T C 95.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=13.89;MQ=96.09;MQ0=0;OQ=3356.52;QD=34.96;RankSumP=1.00000;SB=-630.92;SecondBestBaseQ=2;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.685+1;refseq.codingCoordStr_2=c.685+1;refseq.end_1=17509350;refseq.end_2=17509350;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=FAM129C;refseq.name2_2=FAM129C;refseq.name_1=NM_001098524;refseq.name_2=NM_173544;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-donor_1;refseq.spliceInfo_2=splice-donor_1;refseq.start_1=17509350;refseq.start_2=17509350;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr19 17512370 . A G 64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=1132.41;QD=33.31;RankSumP=1.00000;SB=-536.33;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1242A>G;refseq.codingCoordStr_2=c.1242A>G;refseq.codonCoord_1=414;refseq.codonCoord_2=414;refseq.end_1=17512370;refseq.end_2=17512370;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1380;refseq.mrnaCoord_2=1380;refseq.name2_1=FAM129C;refseq.name2_2=FAM129C;refseq.name_1=NM_001098524;refseq.name_2=NM_173544;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S414S;refseq.proteinCoordStr_2=p.S414S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=17512370;refseq.start_2=17512370;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr19 17521300 . G A 419.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.49;MQ0=0;OQ=6353.42;QD=42.36;RankSumP=1.00000;SB=-2797.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1807G>A;refseq.codingCoordStr_2=c.1807G>A;refseq.codonCoord_1=603;refseq.codonCoord_2=603;refseq.end_1=17521300;refseq.end_2=17521300;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1945;refseq.mrnaCoord_2=1945;refseq.name2_1=FAM129C;refseq.name2_2=FAM129C;refseq.name_1=NM_001098524;refseq.name_2=NM_173544;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G603S;refseq.proteinCoordStr_2=p.G603S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=17521300;refseq.start_2=17521300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr19 17527636 . C T 11.18 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=46.00;MQ0=0;QD=11.18;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.114C>T;refseq.codonCoord=38;refseq.end=17527636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=126;refseq.name=NM_024656;refseq.name2=GLT25D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F38F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=126;refseq.start=17527636;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/1 chr19 17698090 . C T 102.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=452.38;QD=18.10;RankSumP=0.238788;SB=-215.91;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.897C>T;refseq.codonCoord=299;refseq.end=17698090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=906;refseq.name=NM_018174;refseq.name2=MAP1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.P299P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=453;refseq.start=17698090;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 17698425 . C G 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.69;MQ0=0;OQ=138.22;QD=6.01;RankSumP=0.270529;SB=-64.72;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1232C>G;refseq.codonCoord=411;refseq.end=17698425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1241;refseq.name=NM_018174;refseq.name2=MAP1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.S411C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=788;refseq.start=17698425;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 17698512 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=96.93;MQ0=0;OQ=372.43;QD=13.79;RankSumP=0.0137564;SB=-106.91;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1319G>A;refseq.codonCoord=440;refseq.end=17698512;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1328;refseq.name=NM_018174;refseq.name2=MAP1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.C440Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=875;refseq.start=17698512;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 17698598 . C G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=4;RankSumP=0.671429;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1405C>G;refseq.codonCoord=469;refseq.end=17698598;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1414;refseq.name=NM_018174;refseq.name2=MAP1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.R469G;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=961;refseq.start=17698598;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr19 17698981 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=96.70;MQ0=0;OQ=189.91;QD=10.00;RankSumP=0.330360;SB=-109.99;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1788A>G;refseq.codonCoord=596;refseq.end=17698981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1797;refseq.name=NM_018174;refseq.name2=MAP1S;refseq.positionType=CDS;refseq.proteinCoordStr=p.A596A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-1001;refseq.start=17698981;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 17746270 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=4.17;MQ=97.92;MQ0=0;OQ=585.32;QD=8.13;RankSumP=0.00474919;SB=-54.69;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.903A>G;refseq.codingCoordStr_2=c.903A>G;refseq.codingCoordStr_3=c.753A>G;refseq.codingCoordStr_4=c.903A>G;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.codonCoord_3=251;refseq.codonCoord_4=301;refseq.end_1=17746270;refseq.end_2=17746270;refseq.end_3=17746270;refseq.end_4=17746270;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1182;refseq.mrnaCoord_2=1092;refseq.mrnaCoord_3=1022;refseq.mrnaCoord_4=1186;refseq.name2_1=FCHO1;refseq.name2_2=FCHO1;refseq.name2_3=FCHO1;refseq.name2_4=FCHO1;refseq.name_1=NM_001161357;refseq.name_2=NM_001161358;refseq.name_3=NM_001161359;refseq.name_4=NM_015122;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P301P;refseq.proteinCoordStr_2=p.P301P;refseq.proteinCoordStr_3=p.P251P;refseq.proteinCoordStr_4=p.P301P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.spliceDist_4=-18;refseq.start_1=17746270;refseq.start_2=17746270;refseq.start_3=17746270;refseq.start_4=17746270;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=filterInsoap-gatk GT 0/1 chr19 17746880 . C T 252.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.82;MQ0=0;OQ=1648.95;QD=19.87;RankSumP=0.209420;SB=-739.36;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.936C>T;refseq.codingCoordStr_2=c.936C>T;refseq.codingCoordStr_3=c.786C>T;refseq.codingCoordStr_4=c.936C>T;refseq.codonCoord_1=312;refseq.codonCoord_2=312;refseq.codonCoord_3=262;refseq.codonCoord_4=312;refseq.end_1=17746880;refseq.end_2=17746880;refseq.end_3=17746880;refseq.end_4=17746880;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1215;refseq.mrnaCoord_2=1125;refseq.mrnaCoord_3=1055;refseq.mrnaCoord_4=1219;refseq.name2_1=FCHO1;refseq.name2_2=FCHO1;refseq.name2_3=FCHO1;refseq.name2_4=FCHO1;refseq.name_1=NM_001161357;refseq.name_2=NM_001161358;refseq.name_3=NM_001161359;refseq.name_4=NM_015122;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P312P;refseq.proteinCoordStr_2=p.P312P;refseq.proteinCoordStr_3=p.P262P;refseq.proteinCoordStr_4=p.P312P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=17746880;refseq.start_2=17746880;refseq.start_3=17746880;refseq.start_4=17746880;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 0/1 chr19 17747940 . G A 212.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.76;MQ0=0;OQ=791.52;QD=16.84;RankSumP=0.173041;SB=-336.85;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1152G>A;refseq.codingCoordStr_2=c.1152G>A;refseq.codingCoordStr_3=c.1002G>A;refseq.codingCoordStr_4=c.1152G>A;refseq.codonCoord_1=384;refseq.codonCoord_2=384;refseq.codonCoord_3=334;refseq.codonCoord_4=384;refseq.end_1=17747940;refseq.end_2=17747940;refseq.end_3=17747940;refseq.end_4=17747940;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1431;refseq.mrnaCoord_2=1341;refseq.mrnaCoord_3=1271;refseq.mrnaCoord_4=1435;refseq.name2_1=FCHO1;refseq.name2_2=FCHO1;refseq.name2_3=FCHO1;refseq.name2_4=FCHO1;refseq.name_1=NM_001161357;refseq.name_2=NM_001161358;refseq.name_3=NM_001161359;refseq.name_4=NM_015122;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A384A;refseq.proteinCoordStr_2=p.A384A;refseq.proteinCoordStr_3=p.A334A;refseq.proteinCoordStr_4=p.A384A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.spliceDist_3=-31;refseq.spliceDist_4=-31;refseq.start_1=17747940;refseq.start_2=17747940;refseq.start_3=17747940;refseq.start_4=17747940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr19 17753591 . A G 228.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=5.28;MQ=97.77;MQ0=0;OQ=4872.30;QD=34.56;RankSumP=1.00000;SB=-1690.07;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1899A>G;refseq.codingCoordStr_2=c.1899A>G;refseq.codingCoordStr_3=c.1749A>G;refseq.codingCoordStr_4=c.1899A>G;refseq.codonCoord_1=633;refseq.codonCoord_2=633;refseq.codonCoord_3=583;refseq.codonCoord_4=633;refseq.end_1=17753591;refseq.end_2=17753591;refseq.end_3=17753591;refseq.end_4=17753591;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2178;refseq.mrnaCoord_2=2088;refseq.mrnaCoord_3=2018;refseq.mrnaCoord_4=2182;refseq.name2_1=FCHO1;refseq.name2_2=FCHO1;refseq.name2_3=FCHO1;refseq.name2_4=FCHO1;refseq.name_1=NM_001161357;refseq.name_2=NM_001161358;refseq.name_3=NM_001161359;refseq.name_4=NM_015122;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T633T;refseq.proteinCoordStr_2=p.T633T;refseq.proteinCoordStr_3=p.T583T;refseq.proteinCoordStr_4=p.T633T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.start_1=17753591;refseq.start_2=17753591;refseq.start_3=17753591;refseq.start_4=17753591;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/1 chr19 17780024 . A T 109.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=4.50;MQ=98.11;MQ0=0;OQ=779.59;QD=13.92;RankSumP=0.0572755;SB=-407.58;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.408A>T;refseq.codonCoord=136;refseq.end=17780024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=555;refseq.name=NM_014256;refseq.name2=B3GNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V136V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-160;refseq.start=17780024;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr19 17783795 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=885;Dels=0.00;HRun=0;HaplotypeScore=32.30;MQ=98.58;MQ0=0;OQ=30220.36;QD=34.15;RankSumP=1.00000;SB=-10885.16;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.983G>A;refseq.codonCoord=328;refseq.end=17783795;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_014256;refseq.name2=B3GNT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R328H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=416;refseq.start=17783795;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 17788847 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.000189955;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.212A>G;refseq.codonCoord=71;refseq.end=17788847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=217;refseq.name=NM_005543;refseq.name2=INSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E71G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=22;refseq.start=17788847;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 17793138 . T C 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=252.11;QD=31.51;RankSumP=1.00000;SB=-135.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.178A>G;refseq.codonCoord=60;refseq.end=17793138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_005543;refseq.name2=INSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T60A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=17793138;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/1 chr19 17793190 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.333333;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.126A>G;refseq.codonCoord=42;refseq.end=17793190;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=131;refseq.name=NM_005543;refseq.name2=INSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L42L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-65;refseq.start=17793190;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr19 17815220 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=6.39322e-12;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.389A>C;refseq.codonCoord=130;refseq.end=17815220;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_000215;refseq.name2=JAK3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D130A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-32;refseq.start=17815220;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 17982154 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.15;MQ0=0;OQ=773.98;QD=11.55;RankSumP=0.0684623;SB=-32.63;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.984G>A;refseq.codingCoordStr_2=c.999G>A;refseq.codonCoord_1=328;refseq.codonCoord_2=333;refseq.end_1=17982154;refseq.end_2=17982154;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1164;refseq.mrnaCoord_2=1142;refseq.name2_1=ARRDC2;refseq.name2_2=ARRDC2;refseq.name_1=NM_001025604;refseq.name_2=NM_015683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P328P;refseq.proteinCoordStr_2=p.P333P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=17982154;refseq.start_2=17982154;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr19 17982466 . C T 227.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=7.66;MQ=98.85;MQ0=0;OQ=1915.61;QD=15.96;RankSumP=0.317172;SB=-433.34;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1083C>T;refseq.codingCoordStr_2=c.1098C>T;refseq.codonCoord_1=361;refseq.codonCoord_2=366;refseq.end_1=17982466;refseq.end_2=17982466;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1263;refseq.mrnaCoord_2=1241;refseq.name2_1=ARRDC2;refseq.name2_2=ARRDC2;refseq.name_1=NM_001025604;refseq.name_2=NM_015683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D361D;refseq.proteinCoordStr_2=p.D366D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=17982466;refseq.start_2=17982466;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr19 17984738 . T C 200.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=212;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=98.85;MQ0=0;OQ=3090.53;QD=14.58;RankSumP=0.231609;SB=-1389.63;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1172T>C;refseq.codingCoordStr_2=c.1187T>C;refseq.codonCoord_1=391;refseq.codonCoord_2=396;refseq.end_1=17984738;refseq.end_2=17984738;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1352;refseq.mrnaCoord_2=1330;refseq.name2_1=ARRDC2;refseq.name2_2=ARRDC2;refseq.name_1=NM_001025604;refseq.name_2=NM_015683;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L391P;refseq.proteinCoordStr_2=p.L396P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=17984738;refseq.start_2=17984738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr19 18047575 . G A 240.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=98.78;MQ0=0;OQ=8897.28;QD=38.68;RankSumP=1.00000;SB=-4343.57;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.684C>T;refseq.codingCoordStr_2=c.684C>T;refseq.codonCoord_1=228;refseq.codonCoord_2=228;refseq.end_1=18047575;refseq.end_2=18047575;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=748;refseq.name2_1=IL12RB1;refseq.name2_2=IL12RB1;refseq.name_1=NM_005535;refseq.name_2=NM_153701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P228P;refseq.proteinCoordStr_2=p.P228P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=18047575;refseq.start_2=18047575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 18047618 . T C 123.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=3.14;MQ=98.60;MQ0=0;OQ=4102.23;QD=34.76;RankSumP=1.00000;SB=-806.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.641A>G;refseq.codingCoordStr_2=c.641A>G;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=18047618;refseq.end_2=18047618;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=705;refseq.mrnaCoord_2=705;refseq.name2_1=IL12RB1;refseq.name2_2=IL12RB1;refseq.name_1=NM_005535;refseq.name_2=NM_153701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q214R;refseq.proteinCoordStr_2=p.Q214R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=18047618;refseq.start_2=18047618;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chr19 18049408 . C T 204.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=98.86;MQ0=0;OQ=2222.53;QD=16.84;RankSumP=0.0543228;SB=-878.53;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.467G>A;refseq.codingCoordStr_2=c.467G>A;refseq.codonCoord_1=156;refseq.codonCoord_2=156;refseq.end_1=18049408;refseq.end_2=18049408;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=531;refseq.mrnaCoord_2=531;refseq.name2_1=IL12RB1;refseq.name2_2=IL12RB1;refseq.name_1=NM_005535;refseq.name_2=NM_153701;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R156H;refseq.proteinCoordStr_2=p.R156H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=18049408;refseq.start_2=18049408;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr19 18058635 . G A 231.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=97.48;MQ0=0;OQ=1830.86;QD=31.57;RankSumP=1.00000;SB=-665.67;SecondBestBaseQ=5;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.-2C>T;refseq.codingCoordStr_2=c.-2C>T;refseq.end_1=18058635;refseq.end_2=18058635;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=63;refseq.mrnaCoord_2=63;refseq.name2_1=IL12RB1;refseq.name2_2=IL12RB1;refseq.name_1=NM_005535;refseq.name_2=NM_153701;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=18058635;refseq.start_2=18058635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr19 18134047 . T C 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.41;MQ0=0;OQ=1063.49;QD=36.67;RankSumP=1.00000;SB=-295.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.937T>C;refseq.codonCoord=313;refseq.end=18134047;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_005027;refseq.name2=PIK3R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S313P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=36;refseq.start=18134047;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 18140638 . T C 100.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=5.76;MQ=98.35;MQ0=0;OQ=2629.64;QD=28.58;RankSumP=1.00000;SB=-907.68;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1911T>C;refseq.codonCoord=637;refseq.end=18140638;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2423;refseq.name=NM_005027;refseq.name2=PIK3R2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S637S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-69;refseq.start=18140638;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr19 18165700 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=489;Dels=0.00;HRun=0;HaplotypeScore=22.56;MQ=98.39;MQ0=0;OQ=7157.62;QD=14.64;RankSumP=0.194729;SB=-2290.41;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.214A>G;refseq.codonCoord=72;refseq.end=18165700;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_032683;refseq.name2=MPV17L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.M72V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=27;refseq.start=18165700;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 18166824 . C T 279.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=98.76;MQ0=0;OQ=2450.97;QD=17.63;RankSumP=0.0728504;SB=-630.01;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.492C>T;refseq.codonCoord=164;refseq.end=18166824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_032683;refseq.name2=MPV17L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P164P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=57;refseq.start=18166824;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 18190240 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=111;Dels=0.00;HRun=2;HaplotypeScore=13.27;MQ=98.13;MQ0=0;OQ=1392.53;QD=12.55;RankSumP=0.267262;SB=-599.61;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1134A>G;refseq.codingCoordStr_2=c.1038A>G;refseq.codingCoordStr_3=c.816A>G;refseq.codonCoord_1=378;refseq.codonCoord_2=346;refseq.codonCoord_3=272;refseq.end_1=18190240;refseq.end_2=18190240;refseq.end_3=18190240;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1373;refseq.mrnaCoord_2=1061;refseq.mrnaCoord_3=1151;refseq.name2_1=PDE4C;refseq.name2_2=PDE4C;refseq.name2_3=PDE4C;refseq.name_1=NM_000923;refseq.name_2=NM_001098818;refseq.name_3=NM_001098819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E378E;refseq.proteinCoordStr_2=p.E346E;refseq.proteinCoordStr_3=p.E272E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=69;refseq.spliceDist_2=69;refseq.spliceDist_3=69;refseq.start_1=18190240;refseq.start_2=18190240;refseq.start_3=18190240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chr19 18192087 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.751A>C;refseq.codingCoordStr_2=c.655A>C;refseq.codingCoordStr_3=c.433A>C;refseq.codonCoord_1=251;refseq.codonCoord_2=219;refseq.codonCoord_3=145;refseq.end_1=18192087;refseq.end_2=18192087;refseq.end_3=18192087;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=990;refseq.mrnaCoord_2=678;refseq.mrnaCoord_3=768;refseq.name2_1=PDE4C;refseq.name2_2=PDE4C;refseq.name2_3=PDE4C;refseq.name_1=NM_000923;refseq.name_2=NM_001098818;refseq.name_3=NM_001098819;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T251P;refseq.proteinCoordStr_2=p.T219P;refseq.proteinCoordStr_3=p.T145P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.start_1=18192087;refseq.start_2=18192087;refseq.start_3=18192087;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr19 18229810 . G T 170.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=98.56;MQ0=0;OQ=1326.64;QD=13.27;RankSumP=0.495935;SB=-687.39;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.3284C>A;refseq.codingCoordStr_2=c.2585C>A;refseq.codingCoordStr_3=c.2723C>A;refseq.codonCoord_1=1095;refseq.codonCoord_2=862;refseq.codonCoord_3=908;refseq.end_1=18229810;refseq.end_2=18229810;refseq.end_3=18229810;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3500;refseq.mrnaCoord_2=2978;refseq.mrnaCoord_3=2939;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P1095H;refseq.proteinCoordStr_2=p.P862H;refseq.proteinCoordStr_3=p.P908H;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.start_1=18229810;refseq.start_2=18229810;refseq.start_3=18229810;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 0/1 chr19 18236815 . G A 283.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=7.82;MQ=97.47;MQ0=0;OQ=2330.96;QD=18.95;RankSumP=0.0714153;SB=-709.01;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.2535C>T;refseq.codingCoordStr_2=c.2397C>T;refseq.codingCoordStr_3=c.2535C>T;refseq.codonCoord_1=845;refseq.codonCoord_2=799;refseq.codonCoord_3=845;refseq.end_1=18236815;refseq.end_2=18236815;refseq.end_3=18236815;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2751;refseq.mrnaCoord_2=2790;refseq.mrnaCoord_3=2751;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N845N;refseq.proteinCoordStr_2=p.N799N;refseq.proteinCoordStr_3=p.N845N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-643;refseq.spliceDist_2=-82;refseq.spliceDist_3=-82;refseq.start_1=18236815;refseq.start_2=18236815;refseq.start_3=18236815;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr19 18236846 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=17.08;MQ=97.26;MQ0=0;OQ=1663.19;QD=21.32;RankSumP=0.0446461;SB=-431.22;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.2504C>T;refseq.codingCoordStr_2=c.2366C>T;refseq.codingCoordStr_3=c.2504C>T;refseq.codonCoord_1=835;refseq.codonCoord_2=789;refseq.codonCoord_3=835;refseq.end_1=18236846;refseq.end_2=18236846;refseq.end_3=18236846;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2720;refseq.mrnaCoord_2=2759;refseq.mrnaCoord_3=2720;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P835L;refseq.proteinCoordStr_2=p.P789L;refseq.proteinCoordStr_3=p.P835L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-674;refseq.spliceDist_2=-113;refseq.spliceDist_3=-113;refseq.start_1=18236846;refseq.start_2=18236846;refseq.start_3=18236846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr19 18236882 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=6.24;MQ=95.90;MQ0=0;OQ=936.77;QD=17.03;RankSumP=0.654565;SB=-403.11;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.2468C>G;refseq.codingCoordStr_2=c.2330C>G;refseq.codingCoordStr_3=c.2468C>G;refseq.codonCoord_1=823;refseq.codonCoord_2=777;refseq.codonCoord_3=823;refseq.end_1=18236882;refseq.end_2=18236882;refseq.end_3=18236882;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2684;refseq.mrnaCoord_2=2723;refseq.mrnaCoord_3=2684;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P823R;refseq.proteinCoordStr_2=p.P777R;refseq.proteinCoordStr_3=p.P823R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-710;refseq.spliceDist_2=-149;refseq.spliceDist_3=-149;refseq.start_1=18236882;refseq.start_2=18236882;refseq.start_3=18236882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 0/1 chr19 18237407 . T A 134.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.38;MQ0=0;OQ=1886.25;QD=13.38;RankSumP=0.388020;SB=-813.20;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1943A>T;refseq.codingCoordStr_2=c.1805A>T;refseq.codingCoordStr_3=c.1943A>T;refseq.codonCoord_1=648;refseq.codonCoord_2=602;refseq.codonCoord_3=648;refseq.end_1=18237407;refseq.end_2=18237407;refseq.end_3=18237407;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2159;refseq.mrnaCoord_2=2198;refseq.mrnaCoord_3=2159;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y648F;refseq.proteinCoordStr_2=p.Y602F;refseq.proteinCoordStr_3=p.Y648F;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-1235;refseq.spliceDist_2=-674;refseq.spliceDist_3=-674;refseq.start_1=18237407;refseq.start_2=18237407;refseq.start_3=18237407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/0 chr19 18237517 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=3;HaplotypeScore=4.85;MQ=98.53;MQ0=0;OQ=1683.08;QD=14.03;RankSumP=0.373551;SB=-409.27;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1833G>A;refseq.codingCoordStr_2=c.1695G>A;refseq.codingCoordStr_3=c.1833G>A;refseq.codonCoord_1=611;refseq.codonCoord_2=565;refseq.codonCoord_3=611;refseq.end_1=18237517;refseq.end_2=18237517;refseq.end_3=18237517;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2049;refseq.mrnaCoord_2=2088;refseq.mrnaCoord_3=2049;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q611Q;refseq.proteinCoordStr_2=p.Q565Q;refseq.proteinCoordStr_3=p.Q611Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-1345;refseq.spliceDist_2=-784;refseq.spliceDist_3=-784;refseq.start_1=18237517;refseq.start_2=18237517;refseq.start_3=18237517;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr19 18237522 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=117;Dels=0.00;HRun=3;HaplotypeScore=0.67;MQ=98.52;MQ0=0;OQ=1418.57;QD=12.12;RankSumP=0.261494;SB=-274.72;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1828A>C;refseq.codingCoordStr_2=c.1690A>C;refseq.codingCoordStr_3=c.1828A>C;refseq.codonCoord_1=610;refseq.codonCoord_2=564;refseq.codonCoord_3=610;refseq.end_1=18237522;refseq.end_2=18237522;refseq.end_3=18237522;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2044;refseq.mrnaCoord_2=2083;refseq.mrnaCoord_3=2044;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T610P;refseq.proteinCoordStr_2=p.T564P;refseq.proteinCoordStr_3=p.T610P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-1350;refseq.spliceDist_2=-789;refseq.spliceDist_3=-789;refseq.start_1=18237522;refseq.start_2=18237522;refseq.start_3=18237522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=Intersection GT 1/0 chr19 18237966 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1384A>C;refseq.codingCoordStr_2=c.1246A>C;refseq.codingCoordStr_3=c.1384A>C;refseq.codonCoord_1=462;refseq.codonCoord_2=416;refseq.codonCoord_3=462;refseq.end_1=18237966;refseq.end_2=18237966;refseq.end_3=18237966;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1600;refseq.mrnaCoord_2=1639;refseq.mrnaCoord_3=1600;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T462P;refseq.proteinCoordStr_2=p.T416P;refseq.proteinCoordStr_3=p.T462P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=1371;refseq.spliceDist_2=-1233;refseq.spliceDist_3=-1233;refseq.start_1=18237966;refseq.start_2=18237966;refseq.start_3=18237966;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr19 18238274 . A G 295.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=12.47;MQ=98.05;MQ0=0;OQ=4536.81;QD=18.29;RankSumP=0.321037;SB=-1223.62;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1076T>C;refseq.codingCoordStr_2=c.938T>C;refseq.codingCoordStr_3=c.1076T>C;refseq.codonCoord_1=359;refseq.codonCoord_2=313;refseq.codonCoord_3=359;refseq.end_1=18238274;refseq.end_2=18238274;refseq.end_3=18238274;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=1331;refseq.mrnaCoord_3=1292;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.M359T;refseq.proteinCoordStr_2=p.M313T;refseq.proteinCoordStr_3=p.M359T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.spliceDist_1=1063;refseq.spliceDist_2=1102;refseq.spliceDist_3=1063;refseq.start_1=18238274;refseq.start_2=18238274;refseq.start_3=18238274;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chr19 18238496 . C G 159.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=534;Dels=0.00;HRun=0;HaplotypeScore=10.98;MQ=98.62;MQ0=0;OQ=10758.88;QD=20.15;RankSumP=0.356879;SB=-4534.35;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.854G>C;refseq.codingCoordStr_2=c.716G>C;refseq.codingCoordStr_3=c.854G>C;refseq.codonCoord_1=285;refseq.codonCoord_2=239;refseq.codonCoord_3=285;refseq.end_1=18238496;refseq.end_2=18238496;refseq.end_3=18238496;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1070;refseq.mrnaCoord_2=1109;refseq.mrnaCoord_3=1070;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S285T;refseq.proteinCoordStr_2=p.S239T;refseq.proteinCoordStr_3=p.S285T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=841;refseq.spliceDist_2=880;refseq.spliceDist_3=841;refseq.start_1=18238496;refseq.start_2=18238496;refseq.start_3=18238496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/0 chr19 18238647 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=77;Dels=0.00;HRun=5;HaplotypeScore=6.41;MQ=98.72;MQ0=0;OQ=1126.04;QD=14.62;RankSumP=0.348338;SB=-124.34;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.703C>G;refseq.codingCoordStr_2=c.565C>G;refseq.codingCoordStr_3=c.703C>G;refseq.codonCoord_1=235;refseq.codonCoord_2=189;refseq.codonCoord_3=235;refseq.end_1=18238647;refseq.end_2=18238647;refseq.end_3=18238647;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=958;refseq.mrnaCoord_3=919;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L235V;refseq.proteinCoordStr_2=p.L189V;refseq.proteinCoordStr_3=p.L235V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=690;refseq.spliceDist_2=729;refseq.spliceDist_3=690;refseq.start_1=18238647;refseq.start_2=18238647;refseq.start_3=18238647;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=soap-filterIngatk GT 0/1 chr19 18238761 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=1.97;MQ=98.98;MQ0=0;OQ=996.59;QD=11.72;RankSumP=0.0255859;SB=-151.22;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.589T>C;refseq.codingCoordStr_2=c.451T>C;refseq.codingCoordStr_3=c.589T>C;refseq.codonCoord_1=197;refseq.codonCoord_2=151;refseq.codonCoord_3=197;refseq.end_1=18238761;refseq.end_2=18238761;refseq.end_3=18238761;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=805;refseq.mrnaCoord_2=844;refseq.mrnaCoord_3=805;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C197R;refseq.proteinCoordStr_2=p.C151R;refseq.proteinCoordStr_3=p.C197R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=576;refseq.spliceDist_2=615;refseq.spliceDist_3=576;refseq.start_1=18238761;refseq.start_2=18238761;refseq.start_3=18238761;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 0/1 chr19 18239219 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=97.74;MQ0=0;OQ=918.89;QD=13.92;RankSumP=0.273245;SB=-436.16;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.131T>C;refseq.codingCoordStr_2=c.-8T>C;refseq.codingCoordStr_3=c.131T>C;refseq.codonCoord_1=44;refseq.codonCoord_3=44;refseq.end_1=18239219;refseq.end_2=18239219;refseq.end_3=18239219;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=347;refseq.mrnaCoord_2=386;refseq.mrnaCoord_3=347;refseq.name2_1=KIAA1683;refseq.name2_2=KIAA1683;refseq.name2_3=KIAA1683;refseq.name_1=NM_001145304;refseq.name_2=NM_001145305;refseq.name_3=NM_025249;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L44P;refseq.proteinCoordStr_3=p.L44P;refseq.referenceAA_1=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=118;refseq.spliceDist_2=157;refseq.spliceDist_3=118;refseq.start_1=18239219;refseq.start_2=18239219;refseq.start_3=18239219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr19 18358024 . G C 340.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=97.80;MQ0=0;OQ=2068.46;QD=43.09;RankSumP=1.00000;SB=-811.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.25G>C;refseq.codonCoord=9;refseq.end=18358024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=57;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V9L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=57;refseq.start=18358024;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 18358137 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=495.04;QD=7.86;RankSumP=0.450854;SB=-248.13;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.138G>A;refseq.codonCoord=46;refseq.end=18358137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.L46L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-140;refseq.start=18358137;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr19 18358141 . T A 221.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=99.00;MQ0=0;OQ=1358.24;QD=20.90;RankSumP=0.452985;SB=-665.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.142T>A;refseq.codonCoord=48;refseq.end=18358141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=174;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S48T;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-136;refseq.start=18358141;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 18360106 . A G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=7.36639e-09;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.288A>G;refseq.codonCoord=96;refseq.end=18360106;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=320;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.G96G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=11;refseq.start=18360106;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 18360107 . T G 30 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=0;RankSumP=9.09191e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.289T>G;refseq.codonCoord=97;refseq.end=18360107;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.S97A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=12;refseq.start=18360107;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 18360151 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=95.84;MQ0=0;OQ=924.24;QD=10.87;RankSumP=0.0306392;SB=-268.16;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.333C>T;refseq.codonCoord=111;refseq.end=18360151;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P111P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=56;refseq.start=18360151;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 18360238 . G T 189.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=96.89;MQ0=0;OQ=942.78;QD=14.73;RankSumP=0.314356;SB=-375.23;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.420G>T;refseq.codonCoord=140;refseq.end=18360238;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_004864;refseq.name2=GDF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.P140P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=143;refseq.start=18360238;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 18363835 . G A 410.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=6411.84;QD=42.75;RankSumP=1.00000;SB=-1649.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.880C>T;refseq.codonCoord=294;refseq.end=18363835;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_145256;refseq.name2=LRRC25;refseq.positionType=CDS;refseq.proteinCoordStr=p.P294S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=101;refseq.start=18363835;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr19 18368105 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=0.00834567;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.669C>G;refseq.codonCoord=223;refseq.end=18368105;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1311;refseq.name=NM_145256;refseq.name2=LRRC25;refseq.positionType=CDS;refseq.proteinCoordStr=p.S223R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-111;refseq.start=18368105;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr19 18504044 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=2.38139e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1177T>G;refseq.codonCoord=393;refseq.end=18504044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1290;refseq.name=NM_012181;refseq.name2=FKBP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.F393V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=22;refseq.start=18504044;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr19 18570655 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.454A>C;refseq.codonCoord=152;refseq.end=18570655;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_004750;refseq.name2=CRLF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T152P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=57;refseq.start=18570655;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 18585954 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.183838;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.357C>T;refseq.codonCoord=119;refseq.end=18585954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_012109;refseq.name2=TMEM59L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A119A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=41;refseq.start=18585954;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr19 18756749 . G C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=6.90072e-07;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1871C>G;refseq.codonCoord=624;refseq.end=18756749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1907;refseq.name=NM_000095;refseq.name2=COMP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A624G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-44;refseq.start=18756749;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 18758440 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.47;MQ0=0;OQ=994.57;QD=11.98;RankSumP=0.279184;SB=-298.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1156A>G;refseq.codonCoord=386;refseq.end=18758440;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_000095;refseq.name2=COMP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N386D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=21;refseq.start=18758440;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 18835289 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2643G>C;refseq.codonCoord=881;refseq.end=18835289;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2918;refseq.name=NM_002911;refseq.name2=UPF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K881N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=43;refseq.start=18835289;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr19 18878862 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=9.52;MQ=98.39;MQ0=0;OQ=966.79;QD=10.86;RankSumP=0.207564;SB=-361.35;SecondBestBaseQ=21;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.350C>T;refseq.codingCoordStr_3=c.350C>T;refseq.codonCoord_2=117;refseq.codonCoord_3=117;refseq.end_1=18882769;refseq.end_2=18878862;refseq.end_3=18878862;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=392;refseq.mrnaCoord_3=392;refseq.name2_1=COPE;refseq.name2_2=COPE;refseq.name2_3=COPE;refseq.name_1=NM_199442;refseq.name_2=NM_007263;refseq.name_3=NM_199444;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T117I;refseq.proteinCoordStr_3=p.T117I;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=18877449;refseq.start_2=18878862;refseq.start_3=18878862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 1/0 chr19 18901312 . G C 135.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.68;MQ0=0;OQ=675.71;QD=37.54;RankSumP=1.00000;SB=-219.32;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.1017C>G;refseq.codingCoordStr_3=c.1026C>G;refseq.codingCoordStr_4=c.918C>G;refseq.codingCoordStr_5=c.1026C>G;refseq.codonCoord_2=339;refseq.codonCoord_3=342;refseq.codonCoord_4=306;refseq.codonCoord_5=342;refseq.end_1=18901312;refseq.end_2=18901312;refseq.end_3=18901312;refseq.end_4=18901312;refseq.end_5=18901312;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1679;refseq.mrnaCoord_2=1116;refseq.mrnaCoord_3=1547;refseq.mrnaCoord_4=985;refseq.mrnaCoord_5=1275;refseq.name2_1=HOMER3;refseq.name2_2=HOMER3;refseq.name2_3=HOMER3;refseq.name2_4=HOMER3;refseq.name2_5=HOMER3;refseq.name_1=NR_027297;refseq.name_2=NM_001145721;refseq.name_3=NM_001145722;refseq.name_4=NM_001145724;refseq.name_5=NM_004838;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S339R;refseq.proteinCoordStr_3=p.S342R;refseq.proteinCoordStr_4=p.S306R;refseq.proteinCoordStr_5=p.S342R;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_1=132;refseq.spliceDist_2=123;refseq.spliceDist_3=132;refseq.spliceDist_4=132;refseq.spliceDist_5=132;refseq.start_1=18901312;refseq.start_2=18901312;refseq.start_3=18901312;refseq.start_4=18901312;refseq.start_5=18901312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;refseq.variantCodon_5=AGG;set=Intersection GT 1/1 chr19 18910198 . G A 149.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=474;Dels=0.00;HRun=0;HaplotypeScore=20.12;MQ=98.59;MQ0=0;OQ=9119.21;QD=19.24;RankSumP=0.0775369;SB=-3863.39;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.267C>T;refseq.codingCoordStr_3=c.267C>T;refseq.codingCoordStr_4=c.267C>T;refseq.codingCoordStr_5=c.267C>T;refseq.codonCoord_2=89;refseq.codonCoord_3=89;refseq.codonCoord_4=89;refseq.codonCoord_5=89;refseq.end_1=18910198;refseq.end_2=18910198;refseq.end_3=18910198;refseq.end_4=18910198;refseq.end_5=18910198;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=920;refseq.mrnaCoord_2=366;refseq.mrnaCoord_3=788;refseq.mrnaCoord_4=334;refseq.mrnaCoord_5=516;refseq.name2_1=HOMER3;refseq.name2_2=HOMER3;refseq.name2_3=HOMER3;refseq.name2_4=HOMER3;refseq.name2_5=HOMER3;refseq.name_1=NR_027297;refseq.name_2=NM_001145721;refseq.name_3=NM_001145722;refseq.name_4=NM_001145724;refseq.name_5=NM_004838;refseq.numMatchingRecords=5;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.Y89Y;refseq.proteinCoordStr_3=p.Y89Y;refseq.proteinCoordStr_4=p.Y89Y;refseq.proteinCoordStr_5=p.Y89Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.spliceDist_5=-37;refseq.start_1=18910198;refseq.start_2=18910198;refseq.start_3=18910198;refseq.start_4=18910198;refseq.start_5=18910198;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;set=Intersection GT 1/0 chr19 18966259 . G A 187.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=99.00;MQ0=0;OQ=1912.31;QD=16.63;RankSumP=0.130039;SB=-748.95;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3165C>T;refseq.codingCoordStr_2=c.3165C>T;refseq.codonCoord_1=1055;refseq.codonCoord_2=1055;refseq.end_1=18966259;refseq.end_2=18966259;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3311;refseq.mrnaCoord_2=3311;refseq.name2_1=SFRS14;refseq.name2_2=SFRS14;refseq.name_1=NM_001017392;refseq.name_2=NM_014884;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1055D;refseq.proteinCoordStr_2=p.D1055D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=18966259;refseq.start_2=18966259;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr19 18997541 . C T 345.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=8.40;MQ=98.92;MQ0=0;OQ=4275.73;QD=17.74;RankSumP=0.00765366;SB=-1431.22;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.616G>A;refseq.codingCoordStr_2=c.616G>A;refseq.codonCoord_1=206;refseq.codonCoord_2=206;refseq.end_1=18997541;refseq.end_2=18997541;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=762;refseq.name2_1=SFRS14;refseq.name2_2=SFRS14;refseq.name_1=NM_001017392;refseq.name_2=NM_014884;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G206S;refseq.proteinCoordStr_2=p.G206S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=495;refseq.spliceDist_2=495;refseq.start_1=18997541;refseq.start_2=18997541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=filterInsoap-gatk GT 0/1 chr19 19027655 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=3.63035e-08;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1136A>C;refseq.codonCoord=379;refseq.end=19027655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_033415;refseq.name2=ARMC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N379T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=56;refseq.start=19027655;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr19 19073658 . G A 169.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.73;MQ0=0;OQ=2879.67;QD=15.74;RankSumP=0.0611524;SB=-1037.78;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.150G>A;refseq.codonCoord=50;refseq.end=19073658;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_178526;refseq.name2=SLC25A42;refseq.positionType=CDS;refseq.proteinCoordStr=p.A50A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-38;refseq.start=19073658;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 19091868 . A G 152.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=856.85;QD=38.95;RankSumP=1.00000;SB=-269.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1311T>C;refseq.codonCoord=437;refseq.end=19091868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1341;refseq.name=NM_017814;refseq.name2=TMEM161A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A437A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=125;refseq.start=19091868;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 19118391 . A G 27.73 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.08;SB=-36.90;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.742T>C;refseq.codingCoordStr_4=c.742T>C;refseq.codonCoord_3=248;refseq.codonCoord_4=248;refseq.end_1=19118391;refseq.end_2=19118391;refseq.end_3=19118391;refseq.end_4=19118391;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1647;refseq.mrnaCoord_2=1647;refseq.mrnaCoord_3=856;refseq.mrnaCoord_4=1469;refseq.name2_1=LOC729991-MEF2B;refseq.name2_2=LOC729991-MEF2B;refseq.name2_3=MEF2B;refseq.name2_4=LOC729991-MEF2B;refseq.name_1=NR_027307;refseq.name_2=NR_027308;refseq.name_3=NM_001145785;refseq.name_4=NM_005919;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.F248L;refseq.proteinCoordStr_4=p.F248L;refseq.referenceAA_3=Phe;refseq.referenceAA_4=Phe;refseq.referenceCodon_3=TTC;refseq.referenceCodon_4=TTC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=19118391;refseq.start_2=19118391;refseq.start_3=19118391;refseq.start_4=19118391;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:9:-8.77,-2.71,-30.35:60.55 chr19 19122489 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.54+2;refseq.codingCoordStr_4=c.54+2;refseq.end_1=19122489;refseq.end_2=19122489;refseq.end_3=19122489;refseq.end_4=19122489;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=LOC729991-MEF2B;refseq.name2_2=LOC729991-MEF2B;refseq.name2_3=MEF2B;refseq.name2_4=LOC729991-MEF2B;refseq.name_1=NR_027307;refseq.name_2=NR_027308;refseq.name_3=NM_001145785;refseq.name_4=NM_005919;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=19122489;refseq.start_2=19122489;refseq.start_3=19122489;refseq.start_4=19122489;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=FilteredInAll GT 0/1 chr19 19168797 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=85;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=99.00;MQ0=0;OQ=773.39;QD=9.10;RankSumP=0.149156;SB=-321.37;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.213C>T;refseq.codingCoordStr_2=c.210C>T;refseq.codonCoord_1=71;refseq.codonCoord_2=70;refseq.end_1=19168797;refseq.end_2=19168797;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=718;refseq.mrnaCoord_2=715;refseq.name2_1=RFXANK;refseq.name2_2=RFXANK;refseq.name_1=NM_003721;refseq.name_2=NM_134440;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T71T;refseq.proteinCoordStr_2=p.T70T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=26;refseq.spliceDist_2=23;refseq.start_1=19168797;refseq.start_2=19168797;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr19 19196903 . A T 28.48 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.21;MQ0=0;QD=3.56;SB=-40.36;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.896A>T;refseq.codonCoord=299;refseq.end=19196903;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_004386;refseq.name2=NCAN;refseq.positionType=CDS;refseq.proteinCoordStr=p.E299V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=118;refseq.start=19196903;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:6,2:7:-8.24,-2.11,-19.61:61.31 chr19 19230435 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=13.83;MQ=98.09;MQ0=0;OQ=1093.12;QD=9.51;RankSumP=0.230774;SB=-249.38;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.714T>C;refseq.codonCoord=238;refseq.end=19230435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=769;refseq.name=NM_023002;refseq.name2=HAPLN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S238S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-104;refseq.start=19230435;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr19 19251185 . G A 183.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.47;MQ0=0;OQ=1464.39;QD=13.95;RankSumP=0.194360;SB=-583.36;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1365C>T;refseq.codonCoord=455;refseq.end=19251185;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1367;refseq.name=NM_172231;refseq.name2=SF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y455Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=15;refseq.start=19251185;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr19 19307936 . G A 323.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=343;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=98.71;MQ0=0;OQ=5812.24;QD=16.95;RankSumP=0.0265080;SB=-1523.24;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.300G>A;refseq.codonCoord=100;refseq.end=19307936;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=339;refseq.name=NM_015329;refseq.name2=KIAA0892;refseq.positionType=CDS;refseq.proteinCoordStr=p.P100P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=19307936;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr19 19310686 . G T 267.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.91;MQ0=0;OQ=3855.47;QD=22.03;RankSumP=0.122763;SB=-1286.35;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.489G>T;refseq.codonCoord=163;refseq.end=19310686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_015329;refseq.name2=KIAA0892;refseq.positionType=CDS;refseq.proteinCoordStr=p.S163S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=33;refseq.start=19310686;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr19 19467634 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=112;Dels=0.00;HRun=2;HaplotypeScore=4.51;MQ=98.57;MQ0=0;OQ=1871.16;QD=16.71;RankSumP=0.388706;SB=-851.96;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.696G>A;refseq.codonCoord=232;refseq.end=19467634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_017660;refseq.name2=GATAD2A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S232S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-61;refseq.start=19467634;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr19 19486547 . A G 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=28;Dels=0.00;HRun=3;HaplotypeScore=4.85;MQ=95.13;MQ0=0;OQ=171.11;QD=6.11;RankSumP=0.445299;SB=-48.24;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.690T>C;refseq.codonCoord=230;refseq.end=19486547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_032037;refseq.name2=TSSK6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y230Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-520;refseq.start=19486547;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr19 19596257 . G T 272.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.94;MQ0=0;OQ=4994.54;QD=37.00;RankSumP=1.00000;SB=-794.12;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.864C>A;refseq.codonCoord=288;refseq.end=19596257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_004720;refseq.name2=LPAR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S288S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=122;refseq.start=19596257;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr19 19598686 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=94.75;MQ0=0;OQ=154.77;QD=6.45;RankSumP=0.520362;SB=-69.06;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.408G>A;refseq.codonCoord=136;refseq.end=19598686;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=547;refseq.name=NM_004720;refseq.name2=LPAR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V136V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-335;refseq.start=19598686;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr19 19598915 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=3.06332e-08;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.179A>C;refseq.codonCoord=60;refseq.end=19598915;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=318;refseq.name=NM_004720;refseq.name2=LPAR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N60T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=179;refseq.start=19598915;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 19684270 . T A 164.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=14.32;MQ=98.91;MQ0=0;OQ=1580.73;QD=15.35;RankSumP=0.320440;SB=-636.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.820A>T;refseq.codonCoord=274;refseq.end=19684270;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_021030;refseq.name2=ZNF14;refseq.positionType=CDS;refseq.proteinCoordStr=p.T274S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=629;refseq.start=19684270;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr19 19887167 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00362799;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.82C>T;refseq.codonCoord=28;refseq.end=19887167;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_031218;refseq.name2=ZNF93;refseq.positionType=CDS;refseq.proteinCoordStr=p.L28L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-49;refseq.start=19887167;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 0/1 chr19 19906162 . A T 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.347742;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1398A>T;refseq.codonCoord=466;refseq.end=19906162;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1574;refseq.name=NM_031218;refseq.name2=ZNF93;refseq.positionType=CDS;refseq.proteinCoordStr=p.S466S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1172;refseq.start=19906162;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 0/1 chr19 19906246 . T A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.113730;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1482T>A;refseq.codonCoord=494;refseq.end=19906246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1658;refseq.name=NM_031218;refseq.name2=ZNF93;refseq.positionType=CDS;refseq.proteinCoordStr=p.S494S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-1137;refseq.start=19906246;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr19 19977963 . C T 268.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=8.96;MQ=98.61;MQ0=0;OQ=11165.47;QD=42.78;RankSumP=1.00000;SB=-5184.91;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1252G>A;refseq.codingCoordStr_2=c.1348G>A;refseq.codonCoord_1=418;refseq.codonCoord_2=450;refseq.end_1=19977963;refseq.end_2=19977963;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1428;refseq.mrnaCoord_2=1471;refseq.name2_1=ZNF682;refseq.name2_2=ZNF682;refseq.name_1=NM_001077349;refseq.name_2=NM_033196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V418I;refseq.proteinCoordStr_2=p.V450I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=1122;refseq.spliceDist_2=1122;refseq.start_1=19977963;refseq.start_2=19977963;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr19 19994846 . C T 288.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.84;MQ0=0;OQ=4054.19;QD=21.68;RankSumP=0.315669;SB=-1472.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.97G>A;refseq.codingCoordStr_2=c.193G>A;refseq.codonCoord_1=33;refseq.codonCoord_2=65;refseq.end_1=19994846;refseq.end_2=19994846;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=273;refseq.mrnaCoord_2=316;refseq.name2_1=ZNF682;refseq.name2_2=ZNF682;refseq.name_1=NM_001077349;refseq.name_2=NM_033196;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V33M;refseq.proteinCoordStr_2=p.V65M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=19994846;refseq.start_2=19994846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr19 20369224 . C T 254.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=7.81;MQ=96.48;MQ0=4;OQ=4052.59;QD=20.06;RankSumP=0.459452;SB=-1615.54;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.443G>A;refseq.codonCoord=148;refseq.end=20369224;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1869;refseq.name=NM_001039884;refseq.name2=ZNF826;refseq.positionType=CDS;refseq.proteinCoordStr=p.C148Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1623;refseq.start=20369224;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr19 20599019 . T A 440.27 BadSOAPSNP;HARD_TO_VALIDATE;Indel;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=83.91;MQ0=8;QD=8.00;RankSumP=1.00000;SB=-146.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1504A>T;refseq.codonCoord=502;refseq.end=20599019;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1654;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.I502F;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=1278;refseq.start=20599019;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/1 chr19 20599021 . C T 385.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=58;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=78.55;MQ0=14;QD=6.64;RankSumP=0.400000;SB=-106.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1502G>A;refseq.codonCoord=501;refseq.end=20599021;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.R501K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=1276;refseq.start=20599021;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 0/1 chr19 20599025 . C T 918.16 BadSOAPSNP;HARD_TO_VALIDATE;Indel;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=62.92;MQ0=23;QD=19.13;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1498G>A;refseq.codonCoord=500;refseq.end=20599025;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1648;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.E500K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1272;refseq.start=20599025;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/1 chr19 20599110 . A G 16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=42.63;MQ0=49;OQ=516.25;QD=7.82;RankSumP=1.00000;SB=-3.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1413T>C;refseq.codonCoord=471;refseq.end=20599110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1563;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.H471H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=1187;refseq.start=20599110;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/1 chr19 20599131 rs4809071 G C 14.14 ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=8.72;MQ=61.18;MQ0=9;QD=0.39;SB=20.10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1392C>G;refseq.codonCoord=464;refseq.end=20599131;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1542;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.C464W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1166;refseq.start=20599131;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:19,17:12:-8.29,-3.61,-46.57:46.81 chr19 20599132 . C T 377.55 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=65.20;MQ0=6;QD=11.10;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1391G>A;refseq.codonCoord=464;refseq.end=20599132;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1541;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.C464Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1165;refseq.start=20599132;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/1 chr19 20599133 . A G 67.30 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=66.96;MQ0=5;QD=1.98;SB=-50.24;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1390T>C;refseq.codonCoord=464;refseq.end=20599133;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.C464R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1164;refseq.start=20599133;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:16,18:15:-14.53,-4.52,-43.91:99 chr19 20599137 . A G 505.05 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=63.54;MQ0=10;QD=9.90;SB=-257.28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1386T>C;refseq.codonCoord=462;refseq.end=20599137;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.F462F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=1160;refseq.start=20599137;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:15,36:27:-61.92,-8.13,-43.91:99 chr19 20599140 . A G 905.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=87.92;MQ=65.98;MQ0=12;QD=13.12;RankSumP=0.518717;SB=-429.98;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1383T>C;refseq.codonCoord=461;refseq.end=20599140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1533;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.A461A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1157;refseq.start=20599140;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 0/1 chr19 20599192 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=3.01;MQ=60.87;MQ0=67;OQ=12094.78;QD=34.56;RankSumP=1.00000;SB=-4782.86;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1331G>A;refseq.codonCoord=444;refseq.end=20599192;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1481;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.R444K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1105;refseq.start=20599192;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr19 20599278 . A G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=20.42;MQ=60.94;MQ0=96;OQ=12903.41;QD=29.66;RankSumP=1.00000;SB=-5864.86;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1245T>C;refseq.codonCoord=415;refseq.end=20599278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1395;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.H415H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=1019;refseq.start=20599278;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 20599983 . T G 157.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=110;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.39;MQ0=0;OQ=4316.93;QD=39.24;RankSumP=1.00000;SB=-1199.12;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.540A>C;refseq.codonCoord=180;refseq.end=20599983;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.K180N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=314;refseq.start=20599983;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr19 20599989 . A G 324.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.44;MQ0=0;OQ=4070.43;QD=39.14;RankSumP=1.00000;SB=-1372.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.534T>C;refseq.codonCoord=178;refseq.end=20599989;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.C178C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=308;refseq.start=20599989;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 20600214 . A G 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=21.60;MQ=98.17;MQ0=0;OQ=12158.04;QD=37.88;RankSumP=1.00000;SB=-5465.33;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=20600214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_001076675;refseq.name2=ZNF626;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y103Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=83;refseq.start=20600214;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr19 20620362 . A G 256.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=98.53;MQ0=0;OQ=5125.01;QD=15.16;RankSumP=0.455346;SB=-1969.87;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.194T>C;refseq.codingCoordStr_2=c.194T>C;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=20620362;refseq.end_2=20620362;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=344;refseq.mrnaCoord_2=344;refseq.name2_1=ZNF626;refseq.name2_2=ZNF626;refseq.name_1=NM_001076675;refseq.name_2=NM_145297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M65T;refseq.proteinCoordStr_2=p.M65T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=20620362;refseq.start_2=20620362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr19 20620973 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.328532;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.82T>C;refseq.codingCoordStr_2=c.82T>C;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.end_1=20620973;refseq.end_2=20620973;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=232;refseq.mrnaCoord_2=232;refseq.name2_1=ZNF626;refseq.name2_2=ZNF626;refseq.name_1=NM_001076675;refseq.name_2=NM_145297;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L28L;refseq.proteinCoordStr_2=p.L28L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=20620973;refseq.start_2=20620973;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT 0/1 chr19 20923411 . A G 306.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=6513.77;QD=39.24;RankSumP=1.00000;SB=-2788.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.251A>G;refseq.codonCoord=84;refseq.end=20923411;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q84R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=22;refseq.start=20923411;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr19 20923504 . G T 320.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=4272.32;QD=38.49;RankSumP=1.00000;SB=-1853.29;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.344G>T;refseq.codonCoord=115;refseq.end=20923504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=471;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.R115I;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=115;refseq.start=20923504;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr19 20923690 . C G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.50;MQ0=0;OQ=4154.69;QD=50.67;RankSumP=1.00000;SB=-977.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.530C>G;refseq.codonCoord=177;refseq.end=20923690;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=657;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.T177R;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=301;refseq.start=20923690;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr19 20923710 . G C 264.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.46;MQ0=0;OQ=5033.21;QD=47.04;RankSumP=1.00000;SB=-1588.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.550G>C;refseq.codonCoord=184;refseq.end=20923710;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.G184R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=321;refseq.start=20923710;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 20923969 . T C 213.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.58;MQ0=0;OQ=7323.85;QD=41.61;RankSumP=1.00000;SB=-3523.09;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.809T>C;refseq.codonCoord=270;refseq.end=20923969;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.F270S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=580;refseq.start=20923969;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr19 20924051 . A T 205.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.88;MQ0=0;OQ=7252.99;QD=39.85;RankSumP=1.00000;SB=-3528.74;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.891A>T;refseq.codonCoord=297;refseq.end=20924051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.R297R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=662;refseq.start=20924051;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr19 20924234 . C T 398.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=6314.08;QD=42.95;RankSumP=1.00000;SB=-2994.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1074C>T;refseq.codonCoord=358;refseq.end=20924234;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.T358T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=845;refseq.start=20924234;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr19 20924591 . A T 334.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=4162.25;QD=41.21;RankSumP=1.00000;SB=-1914.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1431A>T;refseq.codonCoord=477;refseq.end=20924591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.T477T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-753;refseq.start=20924591;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr19 20924809 . C T 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0107704;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1649C>T;refseq.codonCoord=550;refseq.end=20924809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1776;refseq.name=NM_003429;refseq.name2=ZNF85;refseq.positionType=CDS;refseq.proteinCoordStr=p.S550F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-535;refseq.start=20924809;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=soap GT 0/1 chr19 21032013 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.421190;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1056T>C;refseq.codingCoordStr_2=c.1059T>C;refseq.codonCoord_1=352;refseq.codonCoord_2=353;refseq.end_1=21032013;refseq.end_2=21032013;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1237;refseq.mrnaCoord_2=1240;refseq.name2_1=ZNF430;refseq.name2_2=ZNF430;refseq.name_1=NM_001172671;refseq.name_2=NM_025189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A352A;refseq.proteinCoordStr_2=p.A353A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=737;refseq.spliceDist_2=737;refseq.start_1=21032013;refseq.start_2=21032013;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr19 21032022 . A G 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.175135;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1065A>G;refseq.codingCoordStr_2=c.1068A>G;refseq.codonCoord_1=355;refseq.codonCoord_2=356;refseq.end_1=21032022;refseq.end_2=21032022;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1246;refseq.mrnaCoord_2=1249;refseq.name2_1=ZNF430;refseq.name2_2=ZNF430;refseq.name_1=NM_001172671;refseq.name_2=NM_025189;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q355Q;refseq.proteinCoordStr_2=p.Q356Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=746;refseq.spliceDist_2=746;refseq.start_1=21032022;refseq.start_2=21032022;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chr19 21157435 . G A 12.15 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=235;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=94.80;MQ0=0;QD=0.05;SB=41.59;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.489G>A;refseq.codonCoord=163;refseq.end=21157435;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_133473;refseq.name2=ZNF431;refseq.positionType=CDS;refseq.proteinCoordStr=p.E163E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=170;refseq.start=21157435;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:218,17:229:-73.42,-68.94,-903.75:44.71 chr19 21268875 . T C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.407004;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.733A>G;refseq.codonCoord=245;refseq.end=21268875;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=931;refseq.name=NM_021269;refseq.name2=ZNF708;refseq.positionType=CDS;refseq.proteinCoordStr=p.I245V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=507;refseq.start=21268875;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr19 21268877 . A C 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.343357;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.731T>G;refseq.codonCoord=244;refseq.end=21268877;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_021269;refseq.name2=ZNF708;refseq.positionType=CDS;refseq.proteinCoordStr=p.I244R;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=505;refseq.start=21268877;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=soap GT 0/1 chr19 21269219 . C T 205.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=542;Dels=0.00;HRun=0;HaplotypeScore=10.75;MQ=98.73;MQ0=0;OQ=12231.33;QD=22.57;RankSumP=0.387998;SB=-4042.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.389G>A;refseq.codonCoord=130;refseq.end=21269219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=587;refseq.name=NM_021269;refseq.name2=ZNF708;refseq.positionType=CDS;refseq.proteinCoordStr=p.R130Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=163;refseq.start=21269219;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 21269271 . T C 242.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=533;Dels=0.00;HRun=0;HaplotypeScore=17.19;MQ=98.70;MQ0=0;OQ=10976.38;QD=20.59;RankSumP=0.367036;SB=-3148.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.337A>G;refseq.codonCoord=113;refseq.end=21269271;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_021269;refseq.name2=ZNF708;refseq.positionType=CDS;refseq.proteinCoordStr=p.K113E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=111;refseq.start=21269271;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr19 21283902 . G A 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=471;Dels=0.00;HRun=0;HaplotypeScore=29.85;MQ=86.46;MQ0=21;OQ=18323.76;QD=38.90;RankSumP=1.00000;SB=-7020.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.212C>T;refseq.codonCoord=71;refseq.end=21283902;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=410;refseq.name=NM_021269;refseq.name2=ZNF708;refseq.positionType=CDS;refseq.proteinCoordStr=p.A71V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-15;refseq.start=21283902;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr19 21398269 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=83.27;MQ0=0;OQ=828.97;QD=11.05;RankSumP=0.159409;SB=-279.25;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.968G>T;refseq.codingCoordStr_2=c.584G>T;refseq.codonCoord_1=323;refseq.codonCoord_2=195;refseq.end_1=21398269;refseq.end_2=21398269;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1087;refseq.mrnaCoord_2=864;refseq.name2_1=ZNF493;refseq.name2_2=ZNF493;refseq.name_1=NM_001076678;refseq.name_2=NM_175910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C323F;refseq.proteinCoordStr_2=p.C195F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=715;refseq.spliceDist_2=715;refseq.start_1=21398269;refseq.start_2=21398269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr19 21399365 . A G 16.72 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.71;MQ0=2;QD=0.15;SB=16.86;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2064A>G;refseq.codingCoordStr_2=c.1680A>G;refseq.codonCoord_1=688;refseq.codonCoord_2=560;refseq.end_1=21399365;refseq.end_2=21399365;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2183;refseq.mrnaCoord_2=1960;refseq.name2_1=ZNF493;refseq.name2_2=ZNF493;refseq.name_1=NM_001076678;refseq.name_2=NM_175910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E688E;refseq.proteinCoordStr_2=p.E560E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=1811;refseq.spliceDist_2=1811;refseq.start_1=21399365;refseq.start_2=21399365;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:100,14:107:-37.16,-32.22,-431.14:49.46 chr19 21399366 . A G 16.72 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.69;MQ0=2;QD=0.15;SB=17.86;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2065A>G;refseq.codingCoordStr_2=c.1681A>G;refseq.codonCoord_1=689;refseq.codonCoord_2=561;refseq.end_1=21399366;refseq.end_2=21399366;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2184;refseq.mrnaCoord_2=1961;refseq.name2_1=ZNF493;refseq.name2_2=ZNF493;refseq.name_1=NM_001076678;refseq.name_2=NM_175910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K689E;refseq.proteinCoordStr_2=p.K561E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=1812;refseq.spliceDist_2=1812;refseq.start_1=21399366;refseq.start_2=21399366;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:99,14:107:-37.17,-32.22,-430.04:49.47 chr19 21511241 . T C 322.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=3482.66;QD=41.96;RankSumP=1.00000;SB=-1679.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.546T>C;refseq.codonCoord=182;refseq.end=21511241;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001001415;refseq.name2=ZNF429;refseq.positionType=CDS;refseq.proteinCoordStr=p.F182F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=320;refseq.start=21511241;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 21701773 . C A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.410457;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1181G>T;refseq.codonCoord=394;refseq.end=21701773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_173531;refseq.name2=ZNF100;refseq.positionType=CDS;refseq.proteinCoordStr=p.S394I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=859;refseq.start=21701773;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr19 21701776 . G A 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.434203;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1178C>T;refseq.codonCoord=393;refseq.end=21701776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_173531;refseq.name2=ZNF100;refseq.positionType=CDS;refseq.proteinCoordStr=p.T393I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=856;refseq.start=21701776;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=FilteredInAll GT 1/0 chr19 21701788 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=1.54;MQ=72.14;MQ0=37;OQ=2319.15;QD=11.48;RankSumP=0.299655;SB=-1077.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1166C>T;refseq.codonCoord=389;refseq.end=21701788;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1365;refseq.name=NM_173531;refseq.name2=ZNF100;refseq.positionType=CDS;refseq.proteinCoordStr=p.T389I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=844;refseq.start=21701788;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 21701857 . G A 56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.458771;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1097C>T;refseq.codonCoord=366;refseq.end=21701857;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_173531;refseq.name2=ZNF100;refseq.positionType=CDS;refseq.proteinCoordStr=p.T366I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=775;refseq.start=21701857;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr19 22154706 . G A 38.41 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=468;Dels=0.00;HRun=0;HaplotypeScore=26.26;MQ=95.40;MQ0=2;QD=0.08;SB=45.30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1653C>T;refseq.codonCoord=551;refseq.end=22154706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.H551H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-964;refseq.start=22154706;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:425,42:458:-145.02,-137.90,-1797.81:71.25 chr19 22155333 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=368;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=78.41;MQ0=51;OQ=2655.79;QD=7.22;RankSumP=0.387394;SB=-905.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1026C>T;refseq.codonCoord=342;refseq.end=22155333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.C342C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=896;refseq.start=22155333;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr19 22155348 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=442;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=71.08;MQ0=130;OQ=2991.19;QD=6.77;RankSumP=0.359458;SB=-1245.25;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1011C>T;refseq.codonCoord=337;refseq.end=22155348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y337Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=881;refseq.start=22155348;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr19 22155429 . C T 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=585;Dels=0.00;HRun=2;HaplotypeScore=14.14;MQ=42.25;MQ0=352;OQ=776.85;QD=1.33;RankSumP=0.442313;SB=183.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.930G>A;refseq.codonCoord=310;refseq.end=22155429;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.K310K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=800;refseq.start=22155429;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap-filterIngatk GT 0/1 chr19 22155636 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=463;Dels=0.00;HRun=1;HaplotypeScore=20.15;MQ=69.52;MQ0=28;OQ=2669.27;QD=5.77;RankSumP=0.456296;SB=-907.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.723T>C;refseq.codonCoord=241;refseq.end=22155636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1041;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.T241T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=593;refseq.start=22155636;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr19 22155666 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=427;Dels=0.00;HRun=2;HaplotypeScore=7.16;MQ=72.24;MQ0=44;OQ=2388.89;QD=5.59;RankSumP=0.392156;SB=-20.37;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.693C>G;refseq.codonCoord=231;refseq.end=22155666;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.G231G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=563;refseq.start=22155666;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr19 22155684 . G A 50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.426800;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.675C>T;refseq.codonCoord=225;refseq.end=22155684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y225Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=545;refseq.start=22155684;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chr19 22167708 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=4;HaplotypeScore=1.73;MQ=71.01;MQ0=6;OQ=6264.45;QD=17.16;RankSumP=2.18385e-09;SB=-1948.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.80G>A;refseq.codonCoord=27;refseq.end=22167708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_001001411;refseq.name2=ZNF676;refseq.positionType=CDS;refseq.proteinCoordStr=p.G27E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=46;refseq.start=22167708;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=filterInsoap-gatk GT 0/1 chr19 23334130 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=93.19;MQ0=0;OQ=1412.91;QD=20.18;RankSumP=0.308443;SB=-151.67;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3491T>C;refseq.codonCoord=1164;refseq.end=23334130;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3604;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1164P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-1793;refseq.start=23334130;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 23334131 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=94.01;MQ0=0;OQ=1649.96;QD=22.92;RankSumP=0.661773;SB=-198.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3490C>G;refseq.codonCoord=1164;refseq.end=23334131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3603;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1164V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-1794;refseq.start=23334131;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr19 23334537 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=2;HaplotypeScore=3.00;MQ=96.32;MQ0=0;OQ=6716.84;QD=18.92;RankSumP=0.320909;SB=-2031.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3084C>G;refseq.codonCoord=1028;refseq.end=23334537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3197;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1028G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-2200;refseq.start=23334537;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr19 23334758 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.433270;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2863A>G;refseq.codonCoord=955;refseq.end=23334758;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2976;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.T955A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-2421;refseq.start=23334758;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr19 23334774 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.233979;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2847A>G;refseq.codonCoord=949;refseq.end=23334774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2960;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q949Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-2437;refseq.start=23334774;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr19 23334785 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.340405;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2836G>T;refseq.codonCoord=946;refseq.end=23334785;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2949;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.A946S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-2448;refseq.start=23334785;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr19 23335674 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=314;Dels=0.00;HRun=2;HaplotypeScore=5.79;MQ=39.90;MQ0=86;OQ=4227.27;QD=13.46;RankSumP=0.142875;SB=-1656.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1947G>A;refseq.codonCoord=649;refseq.end=23335674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2060;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.K649K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1694;refseq.start=23335674;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr19 23336844 . G A 110.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=1;HaplotypeScore=10.85;MQ=97.53;MQ0=0;OQ=7580.38;QD=18.67;RankSumP=0.120967;SB=-2807.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.777C>T;refseq.codonCoord=259;refseq.end=23336844;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=890;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.I259I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=524;refseq.start=23336844;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 23337090 . A G 108.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.47;MQ0=0;OQ=1570.07;QD=15.39;RankSumP=0.198063;SB=-489.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.531T>C;refseq.codonCoord=177;refseq.end=23337090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=644;refseq.name=NM_003430;refseq.name2=ZNF91;refseq.positionType=CDS;refseq.proteinCoordStr=p.T177T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=278;refseq.start=23337090;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr19 23628985 . A G 428.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.54;MQ0=0;OQ=3484.64;QD=40.05;RankSumP=1.00000;SB=-1536.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.590T>C;refseq.codonCoord=197;refseq.end=23628985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_138330;refseq.name2=ZNF675;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=364;refseq.start=23628985;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 23629205 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=356;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=14818.10;QD=41.62;RankSumP=1.00000;SB=-7396.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.370T>G;refseq.codonCoord=124;refseq.end=23629205;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_138330;refseq.name2=ZNF675;refseq.positionType=CDS;refseq.proteinCoordStr=p.L124V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=144;refseq.start=23629205;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 24102228 . G C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.396489;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1586G>C;refseq.codonCoord=529;refseq.end=24102228;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1720;refseq.name=NM_203282;refseq.name2=ZNF254;refseq.positionType=CDS;refseq.proteinCoordStr=p.W529S;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=1333;refseq.start=24102228;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 0/1 chr19 24102259 . T C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.437602;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1617T>C;refseq.codonCoord=539;refseq.end=24102259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1751;refseq.name=NM_203282;refseq.name2=ZNF254;refseq.positionType=CDS;refseq.proteinCoordStr=p.I539I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1364;refseq.start=24102259;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap GT 1/0 chr19 34885561 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=97.98;MQ0=0;OQ=1009.41;QD=10.63;RankSumP=0.459299;SB=-398.12;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.357C>T;refseq.codingCoordStr_2=c.324C>T;refseq.codonCoord_1=119;refseq.codonCoord_2=108;refseq.end_1=34885561;refseq.end_2=34885561;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=755;refseq.name2_1=C19orf12;refseq.name2_2=C19orf12;refseq.name_1=NM_001031726;refseq.name_2=NM_031448;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T119T;refseq.proteinCoordStr_2=p.T108T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=164;refseq.spliceDist_2=164;refseq.start_1=34885561;refseq.start_2=34885561;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr19 35191983 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0477176;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.918T>C;refseq.codingCoordStr_2=c.798T>C;refseq.codonCoord_1=306;refseq.codonCoord_2=266;refseq.end_1=35191983;refseq.end_2=35191983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=948;refseq.mrnaCoord_2=913;refseq.name2_1=C19orf2;refseq.name2_2=C19orf2;refseq.name_1=NM_003796;refseq.name_2=NM_134447;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D306D;refseq.proteinCoordStr_2=p.D266D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-118;refseq.spliceDist_2=-118;refseq.start_1=35191983;refseq.start_2=35191983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=soap GT 1/0 chr19 35731939 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3573C>A;refseq.codonCoord=1191;refseq.end=35731939;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3711;refseq.name=NM_014717;refseq.name2=ZNF536;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1191T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-323;refseq.start=35731939;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/0 chr19 36461589 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.950T>C;refseq.codonCoord=317;refseq.end=36461589;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_020856;refseq.name2=TSHZ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I317T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=910;refseq.start=36461589;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr19 36461849 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=991;Dels=0.00;HRun=0;HaplotypeScore=29.23;MQ=98.85;MQ0=0;OQ=19323.61;QD=19.50;RankSumP=0.0950698;SB=-5756.82;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.690G>A;refseq.codonCoord=230;refseq.end=36461849;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=755;refseq.name=NM_020856;refseq.name2=TSHZ3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T230T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=650;refseq.start=36461849;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 37565349 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2495+2;refseq.codingCoordStr_2=c.2495+2;refseq.end_1=37565349;refseq.end_2=37565349;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=ZNF507;refseq.name2_2=ZNF507;refseq.name_1=NM_001136156;refseq.name_2=NM_014910;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=37565349;refseq.start_2=37565349;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 37565538 . A G 315.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=98.89;MQ0=0;OQ=7340.60;QD=37.26;RankSumP=1.00000;SB=-3037.86;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2571A>G;refseq.codingCoordStr_2=c.2571A>G;refseq.codonCoord_1=857;refseq.codonCoord_2=857;refseq.end_1=37565538;refseq.end_2=37565538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2843;refseq.mrnaCoord_2=2749;refseq.name2_1=ZNF507;refseq.name2_2=ZNF507;refseq.name_1=NM_001136156;refseq.name_2=NM_014910;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S857S;refseq.proteinCoordStr_2=p.S857S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.start_1=37565538;refseq.start_2=37565538;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/1 chr19 37621909 . G A 260.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=445;Dels=0.00;HRun=0;HaplotypeScore=14.16;MQ=98.61;MQ0=0;OQ=9810.76;QD=22.05;RankSumP=0.359622;SB=-3232.34;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.648G>A;refseq.codingCoordStr_2=c.648G>A;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.end_1=37621909;refseq.end_2=37621909;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=846;refseq.mrnaCoord_2=872;refseq.name2_1=DPY19L3;refseq.name2_2=DPY19L3;refseq.name_1=NM_001172774;refseq.name_2=NM_207325;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A216A;refseq.proteinCoordStr_2=p.A216A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=37621909;refseq.start_2=37621909;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr19 37664917 . C T 202.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=98.91;MQ0=0;OQ=2871.28;QD=18.29;RankSumP=0.145077;SB=-895.37;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2082C>T;refseq.codingCoordStr_2=c.2082C>T;refseq.codonCoord_1=694;refseq.codonCoord_2=694;refseq.end_1=37664917;refseq.end_2=37664917;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2280;refseq.mrnaCoord_2=2306;refseq.name2_1=DPY19L3;refseq.name2_2=DPY19L3;refseq.name_1=NM_001172774;refseq.name_2=NM_207325;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y694Y;refseq.proteinCoordStr_2=p.Y694Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=37664917;refseq.start_2=37664917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr19 37790472 . G C 389.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=96.50;MQ0=0;OQ=1527.26;QD=39.16;RankSumP=1.00000;SB=-615.08;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2282C>G;refseq.codonCoord=761;refseq.end=37790472;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2438;refseq.name=NM_032139;refseq.name2=ANKRD27;refseq.positionType=CDS;refseq.proteinCoordStr=p.P761R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-92;refseq.start=37790472;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 37790571 . G C 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=8;HRun=2;RankSumP=0.437318;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2183C>G;refseq.codonCoord=728;refseq.end=37790571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2339;refseq.name=NM_032139;refseq.name2=ANKRD27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A728G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=37790571;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 37798461 . C T 306.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=99.00;MQ0=0;OQ=14995.49;QD=40.75;RankSumP=1.00000;SB=-5442.90;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2118G>A;refseq.codonCoord=706;refseq.end=37798461;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2274;refseq.name=NM_032139;refseq.name2=ANKRD27;refseq.positionType=CDS;refseq.proteinCoordStr=p.A706A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-58;refseq.start=37798461;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 37802044 . T C 218.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=2626.20;QD=35.98;RankSumP=1.00000;SB=-766.31;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1969A>G;refseq.codonCoord=657;refseq.end=37802044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2125;refseq.name=NM_032139;refseq.name2=ANKRD27;refseq.positionType=CDS;refseq.proteinCoordStr=p.S657G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-39;refseq.start=37802044;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr19 37809506 . T C 106.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=2.56;MQ=98.78;MQ0=0;OQ=3728.95;QD=39.25;RankSumP=1.00000;SB=-1736.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1488A>G;refseq.codonCoord=496;refseq.end=37809506;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_032139;refseq.name2=ANKRD27;refseq.positionType=CDS;refseq.proteinCoordStr=p.G496G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-49;refseq.start=37809506;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr19 37859295 . G T 46.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=15.42;RankSumP=1.00000;SB=-47.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.286G>T;refseq.codonCoord=96;refseq.end=37859295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1143;refseq.name=NM_207391;refseq.name2=RGS9BP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A96S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=1143;refseq.start=37859295;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT 1/1 chr19 37859719 . G A 216.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=15;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=85.74;MQ0=0;OQ=450.87;QD=15.55;RankSumP=0.0527095;SB=-54.67;SecondBestBaseQ=2;refseq.chr=chr19;refseq.codingCoordStr=c.*2G>A;refseq.end=37859719;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1567;refseq.name=NM_207391;refseq.name2=RGS9BP;refseq.positionType=utr3;refseq.spliceDist=-1328;refseq.start=37859719;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 1/0 chr19 37874940 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.131282;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.234C>G;refseq.codonCoord=78;refseq.end=37874940;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=234;refseq.name=NM_001105570;refseq.name2=NUDT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.G78G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=234;refseq.start=37874940;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 37875192 . G C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=123.40;QD=15.43;RankSumP=0.557143;SB=-46.90;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.486G>C;refseq.codonCoord=162;refseq.end=37875192;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_001105570;refseq.name2=NUDT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.P162P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-229;refseq.start=37875192;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr19 37875250 . T G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.525350;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.544T>G;refseq.codonCoord=182;refseq.end=37875250;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_001105570;refseq.name2=NUDT19;refseq.positionType=CDS;refseq.proteinCoordStr=p.C182G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-171;refseq.start=37875250;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr19 38064654 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.48;MQ0=0;OQ=693.52;QD=11.19;RankSumP=0.0111856;SB=-362.44;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2071C>T;refseq.codonCoord=691;refseq.end=38064654;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2160;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.R691W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-65;refseq.start=38064654;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr19 38082636 . G A 125.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=98.72;MQ0=0;OQ=12840.06;QD=41.15;RankSumP=1.00000;SB=-6148.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1842C>T;refseq.codonCoord=614;refseq.end=38082636;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1931;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.N614N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-34;refseq.start=38082636;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 38106260 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=538;Dels=0.00;HRun=2;HaplotypeScore=10.15;MQ=98.98;MQ0=0;OQ=9810.53;QD=18.24;RankSumP=0.260896;SB=-3050.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1193T>C;refseq.codonCoord=398;refseq.end=38106260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1282;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.V398A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=29;refseq.start=38106260;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 38136396 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=158;Dels=0.00;HRun=1;HaplotypeScore=2.41;MQ=96.25;MQ0=0;OQ=2250.97;QD=14.25;RankSumP=0.434058;SB=-754.35;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.457A>G;refseq.codonCoord=153;refseq.end=38136396;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.S153G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-36;refseq.start=38136396;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 38136416 . C T 0.62 PASS AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=97.21;MQ0=0;OQ=1395.55;QD=9.69;SB=-138.18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.437G>A;refseq.codonCoord=146;refseq.end=38136416;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.R146Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-56;refseq.start=38136416;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=gatk GT:AD:DP:GL:GQ 0/1:100,44:139:-184.70,-41.86,-381.13:99 chr19 38136428 . T G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=157;Dels=0.00;HRun=0;HaplotypeScore=9.67;MQ=97.35;MQ0=0;OQ=510.35;QD=3.25;SB=194.90;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.425A>C;refseq.codonCoord=142;refseq.end=38136428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=514;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.D142A;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-68;refseq.start=38136428;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:125,31:144:-97.68,-43.37,-467.23:99 chr19 38136547 . C T 301.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.62;MQ0=0;OQ=3058.86;QD=17.09;RankSumP=0.419226;SB=-838.80;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.306G>A;refseq.codonCoord=102;refseq.end=38136547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=395;refseq.name=NM_032816;refseq.name2=CCDC123;refseq.positionType=CDS;refseq.proteinCoordStr=p.R102R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=38136547;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr19 38159197 . G A 170.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2671.87;QD=16.19;RankSumP=0.429488;SB=-1058.02;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.417G>A;refseq.codonCoord=139;refseq.end=38159197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=535;refseq.name=NM_152266;refseq.name2=C19orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.E139E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=21;refseq.start=38159197;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr19 38159253 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=2;HaplotypeScore=1.99;MQ=99.00;MQ0=0;OQ=2111.50;QD=17.89;RankSumP=0.342280;SB=-1078.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.473C>T;refseq.codonCoord=158;refseq.end=38159253;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_152266;refseq.name2=C19orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.S158L;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=77;refseq.start=38159253;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr19 38159355 . T C 110.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=1374.39;QD=13.34;RankSumP=0.210376;SB=-504.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.575T>C;refseq.codonCoord=192;refseq.end=38159355;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_152266;refseq.name2=C19orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.I192T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=179;refseq.start=38159355;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 38162909 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.500391;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1894A>C;refseq.codonCoord=632;refseq.end=38162909;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1960;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K632Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=94;refseq.start=38162909;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr19 38162928 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.433164;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1875C>T;refseq.codonCoord=625;refseq.end=38162928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1941;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D625D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=75;refseq.start=38162928;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap GT 1/0 chr19 38162969 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.266116;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1834C>T;refseq.codonCoord=612;refseq.end=38162969;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1900;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q612*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=34;refseq.start=38162969;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=soap GT 1/0 chr19 38174661 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=123;Dels=0.00;HRun=0;HaplotypeScore=12.33;MQ=97.08;MQ0=0;OQ=1998.47;QD=16.25;RankSumP=0.449198;SB=-747.55;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1552C>T;refseq.codonCoord=518;refseq.end=38174661;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1618;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R518C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=55;refseq.start=38174661;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr19 38178911 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=425;Dels=0.00;HRun=1;HaplotypeScore=16.30;MQ=71.17;MQ0=87;OQ=5614.91;QD=13.21;RankSumP=0.183475;SB=-1931.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1281C>A;refseq.codonCoord=427;refseq.end=38178911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A427A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=56;refseq.start=38178911;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr19 38182406 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.468541;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1151A>G;refseq.codonCoord=384;refseq.end=38182406;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1217;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q384R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=46;refseq.start=38182406;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap GT 1/0 chr19 38182425 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=465;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=39.25;MQ0=93;OQ=2637.62;QD=5.67;RankSumP=0.375478;SB=-1058.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1132C>T;refseq.codonCoord=378;refseq.end=38182425;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q378*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=27;refseq.start=38182425;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 1/0 chr19 38190818 . A G 236.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=93.17;MQ0=0;OQ=1457.10;QD=33.12;RankSumP=1.00000;SB=-461.18;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.702T>C;refseq.codonCoord=234;refseq.end=38190818;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=768;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C234C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-59;refseq.start=38190818;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 38190911 . G A 256.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=92.29;MQ0=1;OQ=2378.66;QD=16.18;RankSumP=0.0819906;SB=-835.54;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.609C>T;refseq.codonCoord=203;refseq.end=38190911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=675;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T203T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=16;refseq.start=38190911;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 38209355 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=55.16;MQ0=20;OQ=872.25;QD=11.48;RankSumP=0.150703;SB=-377.34;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.209G>A;refseq.codonCoord=70;refseq.end=38209355;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_033103;refseq.name2=RHPN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R70Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=24;refseq.start=38209355;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 38307917 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.09;MQ0=0;OQ=521.56;QD=13.37;RankSumP=0.486354;SB=-277.27;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2588C>T;refseq.codonCoord=863;refseq.end=38307917;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2902;refseq.name=NM_018025;refseq.name2=GPATCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A863V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-32;refseq.start=38307917;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 38309348 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=38;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=585.69;QD=15.41;RankSumP=0.457443;SB=-152.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2634G>A;refseq.codonCoord=878;refseq.end=38309348;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2948;refseq.name=NM_018025;refseq.name2=GPATCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R878R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=15;refseq.start=38309348;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr19 38309423 . C T 227.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=14.53;MQ=98.41;MQ0=0;OQ=4682.40;QD=20.45;RankSumP=0.314354;SB=-1174.81;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2709C>T;refseq.codonCoord=903;refseq.end=38309423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3023;refseq.name=NM_018025;refseq.name2=GPATCH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S903S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-57;refseq.start=38309423;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr19 38320465 . A C 18.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=118;Dels=0.00;HRun=2;HaplotypeScore=11.00;MQ=98.39;MQ0=0;QD=0.16;RankSumP=0.00000;SB=191.64;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.319A>C;refseq.codonCoord=107;refseq.end=38320465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_173479;refseq.name2=WDR88;refseq.positionType=CDS;refseq.proteinCoordStr=p.T107P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=43;refseq.start=38320465;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 38327601 . C T 142.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.73;MQ0=0;OQ=1131.76;QD=14.15;RankSumP=0.394210;SB=-342.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.399C>T;refseq.codonCoord=133;refseq.end=38327601;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=477;refseq.name=NM_173479;refseq.name2=WDR88;refseq.positionType=CDS;refseq.proteinCoordStr=p.D133D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=12;refseq.start=38327601;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 38346984 . C T 279.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=98.90;MQ0=0;OQ=7707.18;QD=19.17;RankSumP=0.345613;SB=-2939.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1122C>T;refseq.codonCoord=374;refseq.end=38346984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_173479;refseq.name2=WDR88;refseq.positionType=CDS;refseq.proteinCoordStr=p.N374N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-28;refseq.start=38346984;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr19 38388548 . T C 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=98.55;MQ0=0;OQ=742.37;QD=28.55;RankSumP=1.00000;SB=-85.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1032T>C;refseq.codonCoord=344;refseq.end=38388548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1125;refseq.name=NM_002333;refseq.name2=LRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T344T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=557;refseq.start=38388548;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr19 38388737 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.47;MQ0=0;OQ=379.77;QD=12.25;RankSumP=0.402346;SB=-214.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1221C>T;refseq.codonCoord=407;refseq.end=38388737;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_002333;refseq.name2=LRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G407G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-372;refseq.start=38388737;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 38390131 . T C 177.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.90;MQ0=0;OQ=1004.23;QD=33.47;RankSumP=1.00000;SB=-287.78;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2123T>C;refseq.codonCoord=708;refseq.end=38390131;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2216;refseq.name=NM_002333;refseq.name2=LRP3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V708A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=398;refseq.start=38390131;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 38955327 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.794T>G;refseq.codingCoordStr_2=c.794T>G;refseq.codingCoordStr_3=c.794T>G;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.codonCoord_3=265;refseq.end_1=38955327;refseq.end_2=38955327;refseq.end_3=38955327;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1299;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1552;refseq.name2_1=CHST8;refseq.name2_2=CHST8;refseq.name2_3=CHST8;refseq.name_1=NM_001127895;refseq.name_2=NM_001127896;refseq.name_3=NM_022467;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V265G;refseq.proteinCoordStr_2=p.V265G;refseq.proteinCoordStr_3=p.V265G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=626;refseq.spliceDist_2=626;refseq.spliceDist_3=626;refseq.start_1=38955327;refseq.start_2=38955327;refseq.start_3=38955327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr19 39651819 . A G 199.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=70.30;MQ0=0;OQ=1310.28;QD=36.40;RankSumP=1.00000;SB=-219.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1776A>G;refseq.codonCoord=592;refseq.end=39651819;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1846;refseq.name=NM_005499;refseq.name2=UBA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S592S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=35;refseq.start=39651819;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr19 39923954 . T C 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.559046;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.828T>C;refseq.codingCoordStr_2=c.825T>C;refseq.codonCoord_1=276;refseq.codonCoord_2=275;refseq.end_1=39923954;refseq.end_2=39923954;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1291;refseq.mrnaCoord_2=1288;refseq.name2_1=ZNF181;refseq.name2_2=ZNF181;refseq.name_1=NM_001029997;refseq.name_2=NM_001145665;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H276H;refseq.proteinCoordStr_2=p.H275H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=599;refseq.spliceDist_2=599;refseq.start_1=39923954;refseq.start_2=39923954;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=soap GT 1/0 chr19 40196104 . C T 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=0.89;RankSumP=0.341758;SB=-27.59;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.690C>T;refseq.codingCoordStr_2=c.711C>T;refseq.codonCoord_1=230;refseq.codonCoord_2=237;refseq.end_1=40196104;refseq.end_2=40196104;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=848;refseq.name2_1=GRAMD1A;refseq.name2_2=GRAMD1A;refseq.name_1=NM_001136199;refseq.name_2=NM_020895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N230N;refseq.proteinCoordStr_2=p.N237N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=40196104;refseq.start_2=40196104;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=soap-filterIngatk GT 0/1 chr19 40201942 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=13.02;MQ=98.33;MQ0=0;OQ=5928.57;QD=22.63;RankSumP=0.459464;SB=-2334.18;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1200G>C;refseq.codingCoordStr_2=c.1221G>C;refseq.codonCoord_1=400;refseq.codonCoord_2=407;refseq.end_1=40201942;refseq.end_2=40201942;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1337;refseq.mrnaCoord_2=1358;refseq.name2_1=GRAMD1A;refseq.name2_2=GRAMD1A;refseq.name_1=NM_001136199;refseq.name_2=NM_020895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T400T;refseq.proteinCoordStr_2=p.T407T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=40201942;refseq.start_2=40201942;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr19 40242653 . C A 26.03 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=10;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=97.60;MQ0=0;QD=2.60;RankSumP=0.681818;SB=-38.92;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.326C>A;refseq.codingCoordStr_3=c.326C>A;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.end_1=40269689;refseq.end_2=40242653;refseq.end_3=40242653;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=571;refseq.mrnaCoord_3=1151;refseq.name2_1=LOC100128675;refseq.name2_2=HPN;refseq.name2_3=HPN;refseq.name_1=NR_024562;refseq.name_2=NM_002151;refseq.name_3=NM_182983;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A109E;refseq.proteinCoordStr_3=p.A109E;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.start_1=40242533;refseq.start_2=40242653;refseq.start_3=40242653;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=FilteredInAll GT 1/0 chr19 40308155 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=97.99;MQ0=0;OQ=873.34;QD=22.98;RankSumP=0.671657;SB=-361.41;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1396C>T;refseq.codonCoord=466;refseq.end=40308155;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L466L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=97;refseq.start=40308155;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr19 40308156 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.02;MQ0=0;OQ=871.78;QD=22.35;RankSumP=0.482947;SB=-387.55;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1395G>A;refseq.codonCoord=465;refseq.end=40308156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1989;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q465Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=96;refseq.start=40308156;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr19 40309110 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=7.71;MQ=97.61;MQ0=0;OQ=859.69;QD=11.02;RankSumP=0.436834;SB=-303.23;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1203A>G;refseq.codonCoord=401;refseq.end=40309110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1797;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T401T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-97;refseq.start=40309110;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr19 40309479 . C G 6 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=97.53;MQ0=0;OQ=68.31;QD=17.08;RankSumP=0.100000;SB=-59.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.834G>C;refseq.codonCoord=278;refseq.end=40309479;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1428;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P278P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=41;refseq.start=40309479;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/0 chr19 40314272 . A G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=0;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.486T>C;refseq.codonCoord=162;refseq.end=40314272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1080;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C162C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=28;refseq.start=40314272;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT 0/1 chr19 40314535 . A G 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.63;MQ0=0;OQ=538.44;QD=29.91;RankSumP=1.00000;SB=-172.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.456T>C;refseq.codonCoord=152;refseq.end=40314535;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_139284;refseq.name2=LGI4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H152H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=40314535;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 40340205 . T G 365.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=98.73;MQ0=0;OQ=4087.79;QD=18.50;RankSumP=0.122662;SB=-1643.99;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.103T>G;refseq.codingCoordStr_3=c.103T>G;refseq.codingCoordStr_4=c.103T>G;refseq.codonCoord_2=35;refseq.codonCoord_3=35;refseq.codonCoord_4=35;refseq.end_1=40340205;refseq.end_2=40340205;refseq.end_3=40340205;refseq.end_4=40340205;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=194;refseq.mrnaCoord_3=191;refseq.mrnaCoord_4=204;refseq.name2_1=FXYD5;refseq.name2_2=FXYD5;refseq.name2_3=FXYD5;refseq.name2_4=FXYD5;refseq.name_1=NR_028406;refseq.name_2=NM_001164605;refseq.name_3=NM_014164;refseq.name_4=NM_144779;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S35A;refseq.proteinCoordStr_3=p.S35A;refseq.proteinCoordStr_4=p.S35A;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.start_1=40340205;refseq.start_2=40340205;refseq.start_3=40340205;refseq.start_4=40340205;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/0 chr19 40352348 . G A 459.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.78;MQ0=0;OQ=6120.11;QD=38.49;RankSumP=1.00000;SB=-2098.01;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.527G>A;refseq.codingCoordStr_3=c.527G>A;refseq.codingCoordStr_4=c.527G>A;refseq.codonCoord_2=176;refseq.codonCoord_3=176;refseq.codonCoord_4=176;refseq.end_1=40352348;refseq.end_2=40352348;refseq.end_3=40352348;refseq.end_4=40352348;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1309;refseq.mrnaCoord_2=618;refseq.mrnaCoord_3=615;refseq.mrnaCoord_4=628;refseq.name2_1=FXYD5;refseq.name2_2=FXYD5;refseq.name2_3=FXYD5;refseq.name2_4=FXYD5;refseq.name_1=NR_028406;refseq.name_2=NM_001164605;refseq.name_3=NM_014164;refseq.name_4=NM_144779;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R176H;refseq.proteinCoordStr_3=p.R176H;refseq.proteinCoordStr_4=p.R176H;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.start_1=40352348;refseq.start_2=40352348;refseq.start_3=40352348;refseq.start_4=40352348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 1/1 chr19 40410946 . A G 349.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.39;MQ0=0;OQ=3953.58;QD=17.34;RankSumP=0.0309186;SB=-1571.88;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.478T>C;refseq.codonCoord=160;refseq.end=40410946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_152481;refseq.name2=FAM187B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C160R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-245;refseq.start=40410946;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr19 40411097 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=3;HaplotypeScore=7.61;MQ=98.53;MQ0=0;OQ=2064.05;QD=14.23;RankSumP=0.343174;SB=-829.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.327C>T;refseq.codonCoord=109;refseq.end=40411097;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_152481;refseq.name2=FAM187B;refseq.positionType=CDS;refseq.proteinCoordStr=p.D109D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=372;refseq.start=40411097;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 40411417 . G A 142.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=98.18;MQ0=0;OQ=1489.68;QD=15.05;RankSumP=0.0285705;SB=-661.65;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7C>T;refseq.codonCoord=3;refseq.end=40411417;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=52;refseq.name=NM_152481;refseq.name2=FAM187B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P3S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=52;refseq.start=40411417;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 40433296 . T C 377.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=3418.26;QD=35.24;RankSumP=1.00000;SB=-1090.81;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.492T>C;refseq.codingCoordStr_2=c.492T>C;refseq.codingCoordStr_3=c.492T>C;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.codonCoord_3=164;refseq.end_1=40433296;refseq.end_2=40433296;refseq.end_3=40433296;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=715;refseq.mrnaCoord_2=715;refseq.mrnaCoord_3=715;refseq.name2_1=LSR;refseq.name2_2=LSR;refseq.name2_3=LSR;refseq.name_1=NM_015925;refseq.name_2=NM_205834;refseq.name_3=NM_205835;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V164V;refseq.proteinCoordStr_2=p.V164V;refseq.proteinCoordStr_3=p.V164V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.spliceDist_3=-107;refseq.start_1=40433296;refseq.start_2=40433296;refseq.start_3=40433296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/1 chr19 40478708 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=97.98;MQ0=0;OQ=1247.55;QD=10.31;RankSumP=0.436970;SB=-449.35;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.399C>T;refseq.codingCoordStr_2=c.399C>T;refseq.codonCoord_1=133;refseq.codonCoord_2=133;refseq.end_1=40478708;refseq.end_2=40478708;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=548;refseq.mrnaCoord_2=548;refseq.name2_1=MAG;refseq.name2_2=MAG;refseq.name_1=NM_002361;refseq.name_2=NM_080600;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S133S;refseq.proteinCoordStr_2=p.S133S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=40478708;refseq.start_2=40478708;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr19 40482343 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=8.06;MQ=98.00;MQ0=0;OQ=1321.04;QD=10.92;RankSumP=0.300711;SB=-375.03;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.462G>A;refseq.codingCoordStr_2=c.462G>A;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=40482343;refseq.end_2=40482343;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=611;refseq.name2_1=MAG;refseq.name2_2=MAG;refseq.name_1=NM_002361;refseq.name_2=NM_080600;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E154E;refseq.proteinCoordStr_2=p.E154E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=40482343;refseq.start_2=40482343;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/0 chr19 40528370 . G A 385.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.58;MQ0=0;OQ=2702.02;QD=38.60;RankSumP=1.00000;SB=-573.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2234G>A;refseq.codonCoord=745;refseq.end=40528370;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2311;refseq.name=NM_001771;refseq.name2=CD22;refseq.positionType=CDS;refseq.proteinCoordStr=p.G745D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=26;refseq.start=40528370;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr19 40534926 . G A 308.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=95.66;MQ0=0;OQ=844.23;QD=35.18;RankSumP=1.00000;SB=-356.35;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.632G>A;refseq.codonCoord=211;refseq.end=40534926;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_005303;refseq.name2=FFAR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R211H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-282;refseq.start=40534926;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/1 chr19 40541766 . G A 99.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=13.14;MQ=36.00;MQ0=104;OQ=5944.05;QD=14.09;RankSumP=0.379327;SB=-2399.15;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.134G>A;refseq.codonCoord=45;refseq.end=40541766;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=209;refseq.name=NM_005304;refseq.name2=FFAR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R45H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=145;refseq.start=40541766;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/0 chr19 40554202 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.583333;SecondBestBaseQ=33;set=FilteredInAll GT 1/0 chr19 40683282 . T G 200.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=98.23;MQ0=0;OQ=3954.55;QD=36.96;RankSumP=1.00000;SB=-1551.10;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.122A>C;refseq.codingCoordStr_2=c.419A>C;refseq.codingCoordStr_3=c.221A>C;refseq.codingCoordStr_4=c.1280A>C;refseq.codonCoord_1=41;refseq.codonCoord_2=140;refseq.codonCoord_3=74;refseq.codonCoord_4=427;refseq.end_1=40683282;refseq.end_2=40683282;refseq.end_3=40683282;refseq.end_4=40683282;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=130;refseq.mrnaCoord_2=502;refseq.mrnaCoord_3=494;refseq.mrnaCoord_4=1463;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001035516;refseq.name_2=NM_001126059;refseq.name_3=NM_001126061;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D41A;refseq.proteinCoordStr_2=p.D140A;refseq.proteinCoordStr_3=p.D74A;refseq.proteinCoordStr_4=p.D427A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceDist_3=-8;refseq.spliceDist_4=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.spliceInfo_3=splice-donor_-8;refseq.spliceInfo_4=splice-donor_-8;refseq.start_1=40683282;refseq.start_2=40683282;refseq.start_3=40683282;refseq.start_4=40683282;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/1 chr19 40694224 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=0;RankSumP=0.0559441;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.847G>A;refseq.codingCoordStr_2=c.847G>A;refseq.codingCoordStr_3=c.847G>A;refseq.codingCoordStr_4=c.847G>A;refseq.codonCoord_1=283;refseq.codonCoord_2=283;refseq.codonCoord_3=283;refseq.codonCoord_4=283;refseq.end_1=40694224;refseq.end_2=40694224;refseq.end_3=40694224;refseq.end_4=40694224;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1030;refseq.mrnaCoord_2=1030;refseq.mrnaCoord_3=1030;refseq.mrnaCoord_4=1030;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001126056;refseq.name_2=NM_001126057;refseq.name_3=NM_001126058;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G283S;refseq.proteinCoordStr_2=p.G283S;refseq.proteinCoordStr_3=p.G283S;refseq.proteinCoordStr_4=p.G283S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.spliceDist_4=-72;refseq.start_1=40694224;refseq.start_2=40694224;refseq.start_3=40694224;refseq.start_4=40694224;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=FilteredInAll GT 0/1 chr19 40694226 . C T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=1;RankSumP=0.500000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.845G>A;refseq.codingCoordStr_2=c.845G>A;refseq.codingCoordStr_3=c.845G>A;refseq.codingCoordStr_4=c.845G>A;refseq.codonCoord_1=282;refseq.codonCoord_2=282;refseq.codonCoord_3=282;refseq.codonCoord_4=282;refseq.end_1=40694226;refseq.end_2=40694226;refseq.end_3=40694226;refseq.end_4=40694226;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1028;refseq.mrnaCoord_2=1028;refseq.mrnaCoord_3=1028;refseq.mrnaCoord_4=1028;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001126056;refseq.name_2=NM_001126057;refseq.name_3=NM_001126058;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S282N;refseq.proteinCoordStr_2=p.S282N;refseq.proteinCoordStr_3=p.S282N;refseq.proteinCoordStr_4=p.S282N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.start_1=40694226;refseq.start_2=40694226;refseq.start_3=40694226;refseq.start_4=40694226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=soap GT 0/1 chr19 40694550 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.83;MQ0=0;OQ=990.52;QD=13.95;RankSumP=0.363780;SB=-447.48;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.690G>T;refseq.codingCoordStr_2=c.690G>T;refseq.codingCoordStr_3=c.690G>T;refseq.codingCoordStr_4=c.690G>T;refseq.codonCoord_1=230;refseq.codonCoord_2=230;refseq.codonCoord_3=230;refseq.codonCoord_4=230;refseq.end_1=40694550;refseq.end_2=40694550;refseq.end_3=40694550;refseq.end_4=40694550;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=873;refseq.mrnaCoord_2=873;refseq.mrnaCoord_3=873;refseq.mrnaCoord_4=873;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001126056;refseq.name_2=NM_001126057;refseq.name_3=NM_001126058;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T230T;refseq.proteinCoordStr_2=p.T230T;refseq.proteinCoordStr_3=p.T230T;refseq.proteinCoordStr_4=p.T230T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceDist_3=6;refseq.spliceDist_4=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.spliceInfo_3=splice-acceptor_6;refseq.spliceInfo_4=splice-acceptor_6;refseq.start_1=40694550;refseq.start_2=40694550;refseq.start_3=40694550;refseq.start_4=40694550;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/0 chr19 40695946 . A G 286.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.79;MQ0=0;OQ=13100.53;QD=40.31;RankSumP=1.00000;SB=-6365.21;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.272T>C;refseq.codingCoordStr_2=c.272T>C;refseq.codingCoordStr_3=c.272T>C;refseq.codingCoordStr_4=c.272T>C;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.codonCoord_3=91;refseq.codonCoord_4=91;refseq.end_1=40695946;refseq.end_2=40695946;refseq.end_3=40695946;refseq.end_4=40695946;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=455;refseq.mrnaCoord_2=455;refseq.mrnaCoord_3=455;refseq.mrnaCoord_4=455;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001126056;refseq.name_2=NM_001126057;refseq.name_3=NM_001126058;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V91A;refseq.proteinCoordStr_2=p.V91A;refseq.proteinCoordStr_3=p.V91A;refseq.proteinCoordStr_4=p.V91A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_1=-155;refseq.spliceDist_2=-155;refseq.spliceDist_3=-155;refseq.spliceDist_4=-155;refseq.start_1=40695946;refseq.start_2=40695946;refseq.start_3=40695946;refseq.start_4=40695946;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/1 chr19 40696011 . C A 296.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=98.41;MQ0=0;OQ=3997.99;QD=20.71;RankSumP=0.386838;SB=-1210.69;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.207G>T;refseq.codingCoordStr_2=c.207G>T;refseq.codingCoordStr_3=c.207G>T;refseq.codingCoordStr_4=c.207G>T;refseq.codonCoord_1=69;refseq.codonCoord_2=69;refseq.codonCoord_3=69;refseq.codonCoord_4=69;refseq.end_1=40696011;refseq.end_2=40696011;refseq.end_3=40696011;refseq.end_4=40696011;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=390;refseq.mrnaCoord_3=390;refseq.mrnaCoord_4=390;refseq.name2_1=DMKN;refseq.name2_2=DMKN;refseq.name2_3=DMKN;refseq.name2_4=DMKN;refseq.name_1=NM_001126056;refseq.name_2=NM_001126057;refseq.name_3=NM_001126058;refseq.name_4=NM_033317;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E69D;refseq.proteinCoordStr_2=p.E69D;refseq.proteinCoordStr_3=p.E69D;refseq.proteinCoordStr_4=p.E69D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=-220;refseq.spliceDist_2=-220;refseq.spliceDist_3=-220;refseq.spliceDist_4=-220;refseq.start_1=40696011;refseq.start_2=40696011;refseq.start_3=40696011;refseq.start_4=40696011;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 1/0 chr19 40725300 . C T 337.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=7569.90;QD=40.48;RankSumP=1.00000;SB=-2119.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.609C>T;refseq.codonCoord=203;refseq.end=40725300;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_014364;refseq.name2=GAPDHS;refseq.positionType=CDS;refseq.proteinCoordStr=p.V203V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-51;refseq.start=40725300;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr19 40727861 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1176C>A;refseq.codonCoord=392;refseq.end=40727861;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_014364;refseq.name2=GAPDHS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y392*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=22;refseq.start=40727861;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr19 40742809 . A G 250.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.47;MQ0=0;OQ=2393.24;QD=34.68;RankSumP=1.00000;SB=-381.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.794T>C;refseq.codonCoord=265;refseq.end=40742809;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_000704;refseq.name2=ATP4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V265A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=40742809;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 40805430 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.94;MQ=97.72;MQ0=0;OQ=413.97;QD=8.81;RankSumP=0.699518;SB=-201.53;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1739A>G;refseq.codonCoord=580;refseq.end=40805430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1790;refseq.name=NM_015302;refseq.name2=HAUS5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q580R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-46;refseq.start=40805430;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr19 40860754 . T C 381.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.75;MQ0=0;OQ=2227.38;QD=37.12;RankSumP=1.00000;SB=-916.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.770T>C;refseq.codonCoord=257;refseq.end=40860754;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_007000;refseq.name2=UPK1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.M257T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=38;refseq.start=40860754;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 40898942 . G A 150.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=4.64;MQ=98.29;MQ0=0;OQ=989.49;QD=17.06;RankSumP=0.709343;SB=-372.17;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1092G>A;refseq.codonCoord=364;refseq.end=40898942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_014383;refseq.name2=ZBTB32;refseq.positionType=CDS;refseq.proteinCoordStr=p.P364P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=68;refseq.start=40898942;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr19 40960611 . C T 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=16;DB;DP=628;Dels=0.00;HRun=0;HaplotypeScore=50.39;MQ=98.52;MQ0=0;OQ=18490.81;QD=29.44;RankSumP=1.00000;SB=-6274.50;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.-259C>T;refseq.codingCoordStr_2=c.150C>T;refseq.codonCoord_2=50;refseq.end_1=40960611;refseq.end_2=40960611;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=196;refseq.mrnaCoord_2=294;refseq.name2_1=ARHGAP33;refseq.name2_2=ARHGAP33;refseq.name_1=NM_001172630;refseq.name_2=NM_052948;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A50A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=40960611;refseq.start_2=40960611;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr19 40962979 . C T 237.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=98.15;MQ0=0;OQ=7348.38;QD=36.38;RankSumP=1.00000;SB=-3053.93;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.120C>T;refseq.codingCoordStr_2=c.528C>T;refseq.codonCoord_1=40;refseq.codonCoord_2=176;refseq.end_1=40962979;refseq.end_2=40962979;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=672;refseq.name2_1=ARHGAP33;refseq.name2_2=ARHGAP33;refseq.name_1=NM_001172630;refseq.name_2=NM_052948;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L40L;refseq.proteinCoordStr_2=p.L176L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=40962979;refseq.start_2=40962979;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr19 40970310 . C G 298.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1086.82;QD=41.80;RankSumP=1.00000;SB=-151.41;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2586+9;refseq.codingCoordStr_2=c.2520C>G;refseq.codonCoord_2=840;refseq.end_1=40970310;refseq.end_2=40970310;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2664;refseq.name2_1=ARHGAP33;refseq.name2_2=ARHGAP33;refseq.name_1=NM_001172630;refseq.name_2=NM_052948;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A840A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=9;refseq.spliceDist_2=401;refseq.spliceInfo_1=splice-donor_9;refseq.start_1=40970310;refseq.start_2=40970310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 40994761 . T C 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=197;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=98.59;MQ0=0;OQ=6905.64;QD=35.05;RankSumP=1.00000;SB=-2790.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.768A>G;refseq.codonCoord=256;refseq.end=40994761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=786;refseq.name=NM_021232;refseq.name2=PRODH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P256P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=30;refseq.start=40994761;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 40995212 . A C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=7.70407e-06;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.489T>G;refseq.codonCoord=163;refseq.end=40995212;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_021232;refseq.name2=PRODH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G163G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=87;refseq.start=40995212;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 40995504 . G C 395.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.52;MQ0=0;OQ=2391.65;QD=39.86;RankSumP=1.00000;SB=-770.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.272C>G;refseq.codonCoord=91;refseq.end=40995504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=290;refseq.name=NM_021232;refseq.name2=PRODH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P91R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-131;refseq.start=40995504;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 41014110 . C T 255.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=8.67;MQ=97.85;MQ0=0;OQ=6717.71;QD=37.11;RankSumP=1.00000;SB=-2347.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3315G>A;refseq.codonCoord=1105;refseq.end=41014110;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3471;refseq.name=NM_004646;refseq.name2=NPHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1105S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=41014110;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr19 41022262 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=2.86823e-08;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2903G>C;refseq.codonCoord=968;refseq.end=41022262;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3059;refseq.name=NM_004646;refseq.name2=NPHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G968A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-25;refseq.start=41022262;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 41028277 . T C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.117133;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1763A>G;refseq.codonCoord=588;refseq.end=41028277;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1919;refseq.name=NM_004646;refseq.name2=NPHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E588G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=41028277;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 41031087 . C T 226.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=13.14;MQ=98.53;MQ0=0;OQ=5928.96;QD=18.30;RankSumP=0.454415;SB=-1856.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1223G>A;refseq.codonCoord=408;refseq.end=41031087;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_004646;refseq.name2=NPHS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R408Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=53;refseq.start=41031087;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 41047435 . A G 331.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=99.00;MQ0=0;OQ=7669.91;QD=41.46;RankSumP=1.00000;SB=-3377.03;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1771A>G;refseq.codingCoordStr_2=c.1621A>G;refseq.codingCoordStr_3=c.1771A>G;refseq.codonCoord_1=591;refseq.codonCoord_2=541;refseq.codonCoord_3=591;refseq.end_1=41047435;refseq.end_2=41047435;refseq.end_3=41047435;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1983;refseq.mrnaCoord_2=1833;refseq.mrnaCoord_3=1983;refseq.name2_1=KIRREL2;refseq.name2_2=KIRREL2;refseq.name2_3=KIRREL2;refseq.name_1=NM_032123;refseq.name_2=NM_199179;refseq.name_3=NM_199180;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K591E;refseq.proteinCoordStr_2=p.K541E;refseq.proteinCoordStr_3=p.K591E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.start_1=41047435;refseq.start_2=41047435;refseq.start_3=41047435;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr19 41178285 . G C 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=18;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.21;MQ0=0;OQ=66.31;QD=13.26;RankSumP=1.00000;SB=-58.47;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.269G>C;refseq.codonCoord=90;refseq.end=41178285;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=356;refseq.name=NM_001042631;refseq.name2=SDHAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C90S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=356;refseq.start=41178285;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=filterInsoap-gatk GT 1/1 chr19 41189198 . C G 83.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1179.41;QD=47.18;RankSumP=1.00000;SB=-522.24;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.834G>C;refseq.codonCoord=278;refseq.end=41189198;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_001039876;refseq.name2=C19orf46;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q278H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-34;refseq.start=41189198;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 41196966 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.10A>G;refseq.codingCoordStr_2=c.10A>G;refseq.codonCoord_1=4;refseq.codonCoord_2=4;refseq.end_1=41196966;refseq.end_2=41196966;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=16;refseq.mrnaCoord_2=16;refseq.name2_1=ALKBH6;refseq.name2_2=ALKBH6;refseq.name_1=NM_032878;refseq.name_2=NM_198867;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R4G;refseq.proteinCoordStr_2=p.R4G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=41196966;refseq.start_2=41196966;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 41218239 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.768A>C;refseq.codonCoord=256;refseq.end=41218239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1313;refseq.name=NM_152658;refseq.name2=THAP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A256A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=96;refseq.start=41218239;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 41218246 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.761A>C;refseq.codonCoord=254;refseq.end=41218246;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_152658;refseq.name2=THAP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.D254A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=89;refseq.start=41218246;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 41241530 . C T 138.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=98.68;MQ0=0;OQ=2731.79;QD=19.94;RankSumP=0.394099;SB=-1173.60;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.186C>T;refseq.codingCoordStr_2=c.186C>T;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=41241530;refseq.end_2=41241530;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=277;refseq.mrnaCoord_2=277;refseq.name2_1=WDR62;refseq.name2_2=WDR62;refseq.name_1=NM_001083961;refseq.name_2=NM_173636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L62L;refseq.proteinCoordStr_2=p.L62L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=41241530;refseq.start_2=41241530;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr19 41267485 . G A 304.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.68;MQ0=0;OQ=4055.51;QD=20.08;RankSumP=0.0338506;SB=-1150.17;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1641G>A;refseq.codingCoordStr_2=c.1641G>A;refseq.codonCoord_1=547;refseq.codonCoord_2=547;refseq.end_1=41267485;refseq.end_2=41267485;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1732;refseq.mrnaCoord_2=1732;refseq.name2_1=WDR62;refseq.name2_2=WDR62;refseq.name_1=NM_001083961;refseq.name_2=NM_173636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T547T;refseq.proteinCoordStr_2=p.T547T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=41267485;refseq.start_2=41267485;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr19 41279823 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2520+2;refseq.codingCoordStr_2=c.2520+2;refseq.end_1=41279823;refseq.end_2=41279823;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=WDR62;refseq.name2_2=WDR62;refseq.name_1=NM_001083961;refseq.name_2=NM_173636;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=41279823;refseq.start_2=41279823;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 41287276 . A C 279.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=297;Dels=0.00;HRun=1;HaplotypeScore=4.99;MQ=98.79;MQ0=0;OQ=5826.18;QD=19.62;RankSumP=0.154873;SB=-1853.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.4170A>C;refseq.codingCoordStr_2=c.4155A>C;refseq.codonCoord_1=1390;refseq.codonCoord_2=1385;refseq.end_1=41287276;refseq.end_2=41287276;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4261;refseq.mrnaCoord_2=4246;refseq.name2_1=WDR62;refseq.name2_2=WDR62;refseq.name_1=NM_001083961;refseq.name_2=NM_173636;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1390F;refseq.proteinCoordStr_2=p.L1385F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=41287276;refseq.start_2=41287276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr19 41366145 . A G 317.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=98.83;MQ0=0;OQ=3064.71;QD=19.65;RankSumP=0.447135;SB=-1056.56;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.563T>C;refseq.codingCoordStr_2=c.563T>C;refseq.codonCoord_1=188;refseq.codonCoord_2=188;refseq.end_1=41366145;refseq.end_2=41366145;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=825;refseq.mrnaCoord_2=671;refseq.name2_1=ZNF565;refseq.name2_2=ZNF565;refseq.name_1=NM_001042474;refseq.name_2=NM_152477;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I188T;refseq.proteinCoordStr_2=p.I188T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=331;refseq.spliceDist_2=331;refseq.start_1=41366145;refseq.start_2=41366145;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr19 41419205 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=5.00;MQ=99.00;MQ0=0;OQ=557.36;QD=11.15;RankSumP=0.0757752;SB=-206.16;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.23G>A;refseq.codingCoordStr_2=c.23G>A;refseq.codingCoordStr_3=c.23G>A;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.codonCoord_3=8;refseq.end_1=41419205;refseq.end_2=41419205;refseq.end_3=41419205;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1472;refseq.mrnaCoord_2=1431;refseq.mrnaCoord_3=1546;refseq.name2_1=ZNF146;refseq.name2_2=ZNF146;refseq.name2_3=ZNF146;refseq.name_1=NM_001099638;refseq.name_2=NM_001099639;refseq.name_3=NM_007145;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R8K;refseq.proteinCoordStr_2=p.R8K;refseq.proteinCoordStr_3=p.R8K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=805;refseq.spliceDist_2=805;refseq.spliceDist_3=805;refseq.start_1=41419205;refseq.start_2=41419205;refseq.start_3=41419205;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 1/0 chr19 41632600 . G T 162.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=618;Dels=0.00;HRun=0;HaplotypeScore=8.82;MQ=98.68;MQ0=0;OQ=11890.24;QD=19.24;RankSumP=0.200367;SB=-4372.62;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.379C>A;refseq.codingCoordStr_2=c.376C>A;refseq.codingCoordStr_3=c.376C>A;refseq.codingCoordStr_4=c.376C>A;refseq.codonCoord_1=127;refseq.codonCoord_2=126;refseq.codonCoord_3=126;refseq.codonCoord_4=126;refseq.end_1=41632600;refseq.end_2=41632600;refseq.end_3=41632600;refseq.end_4=41632600;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=514;refseq.mrnaCoord_2=511;refseq.mrnaCoord_3=523;refseq.mrnaCoord_4=458;refseq.name2_1=ZNF566;refseq.name2_2=ZNF566;refseq.name2_3=ZNF566;refseq.name2_4=ZNF566;refseq.name_1=NM_001145343;refseq.name_2=NM_001145344;refseq.name_3=NM_001145345;refseq.name_4=NM_032838;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R127R;refseq.proteinCoordStr_2=p.R126R;refseq.proteinCoordStr_3=p.R126R;refseq.proteinCoordStr_4=p.R126R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=144;refseq.spliceDist_2=144;refseq.spliceDist_3=144;refseq.spliceDist_4=144;refseq.start_1=41632600;refseq.start_2=41632600;refseq.start_3=41632600;refseq.start_4=41632600;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 0/1 chr19 41809142 . A G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.96;MQ0=0;OQ=2768.74;QD=41.32;RankSumP=1.00000;SB=-875.35;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.503A>G;refseq.codonCoord=168;refseq.end=41809142;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_032825;refseq.name2=ZNF382;refseq.positionType=CDS;refseq.proteinCoordStr=p.E168G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=271;refseq.start=41809142;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr19 41810279 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=188;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=98.74;MQ0=0;OQ=2269.76;QD=12.07;RankSumP=0.467846;SB=-541.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1640C>T;refseq.codonCoord=547;refseq.end=41810279;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1753;refseq.name=NM_032825;refseq.name2=ZNF382;refseq.positionType=CDS;refseq.proteinCoordStr=p.T547M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-1061;refseq.start=41810279;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 41902369 . A G 113.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.74;MQ0=0;OQ=2140.03;QD=17.12;RankSumP=0.474791;SB=-1034.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.810A>G;refseq.codonCoord=270;refseq.end=41902369;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_152603;refseq.name2=ZNF567;refseq.positionType=CDS;refseq.proteinCoordStr=p.R270R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=680;refseq.start=41902369;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 41902645 . C T 439.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.72;MQ0=0;OQ=4143.43;QD=41.43;RankSumP=1.00000;SB=-1797.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1086C>T;refseq.codonCoord=362;refseq.end=41902645;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_152603;refseq.name2=ZNF567;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y362Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=956;refseq.start=41902645;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr19 42001386 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1700G>T;refseq.codonCoord=567;refseq.end=42001386;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1819;refseq.name=NM_206894;refseq.name2=ZNF790;refseq.positionType=CDS;refseq.proteinCoordStr=p.S567I;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1216;refseq.start=42001386;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr19 42311685 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=230;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.16;MQ0=0;OQ=4300.05;QD=18.70;RankSumP=0.268169;SB=-1508.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1952C>T;refseq.codonCoord=651;refseq.end=42311685;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2167;refseq.name=NM_144689;refseq.name2=ZNF420;refseq.positionType=CDS;refseq.proteinCoordStr=p.A651V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-807;refseq.start=42311685;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 42334702 . A C 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=4.44801e-07;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1774T>G;refseq.codingCoordStr_2=c.1774T>G;refseq.codonCoord_1=592;refseq.codonCoord_2=592;refseq.end_1=42334702;refseq.end_2=42334702;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2272;refseq.mrnaCoord_2=2235;refseq.name2_1=ZNF585A;refseq.name2_2=ZNF585A;refseq.name_1=NM_152655;refseq.name_2=NM_199126;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S592A;refseq.proteinCoordStr_2=p.S592A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=1647;refseq.spliceDist_2=1647;refseq.start_1=42334702;refseq.start_2=42334702;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=FilteredInAll GT 0/1 chr19 42368340 . A C 91 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=21;DP=146;Dels=0.00;HRun=2;HaplotypeScore=48.60;MQ=50.38;MQ0=38;OQ=87.66;QD=0.60;RankSumP=8.28008e-06;SB=131.45;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1939T>G;refseq.codonCoord=647;refseq.end=42368340;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2191;refseq.name=NM_152279;refseq.name2=ZNF585B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S647A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1647;refseq.start=42368340;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr19 42561988 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.160G>T;refseq.codonCoord=54;refseq.end=42561988;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_032453;refseq.name2=ZNF527;refseq.positionType=CDS;refseq.proteinCoordStr=p.G54*;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=42561988;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 0/1 chr19 42653104 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.8T>G;refseq.codonCoord=3;refseq.end=42653104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=537;refseq.name=NM_144694;refseq.name2=ZNF570;refseq.positionType=CDS;refseq.proteinCoordStr=p.V3G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-26;refseq.start=42653104;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr19 42748603 . C G 176.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=98.80;MQ0=0;OQ=8891.81;QD=47.81;RankSumP=1.00000;SB=-3539.80;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.567G>C;refseq.codonCoord_2=189;refseq.end_1=42781106;refseq.end_2=42748603;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=668;refseq.name2_1=ZNF540;refseq.name2_2=ZNF571;refseq.name_1=NM_152606;refseq.name_2=NM_016536;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q189H;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=431;refseq.start_1=42734418;refseq.start_2=42748603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 42881280 . T C 305.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=98.84;MQ0=0;OQ=13044.63;QD=41.54;RankSumP=1.00000;SB=-5316.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1589A>G;refseq.codingCoordStr_2=c.1592A>G;refseq.codonCoord_1=530;refseq.codonCoord_2=531;refseq.end_1=42881280;refseq.end_2=42881280;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1837;refseq.mrnaCoord_2=2188;refseq.name2_1=ZNF607;refseq.name2_2=ZNF607;refseq.name_1=NM_001172677;refseq.name_2=NM_032689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K530R;refseq.proteinCoordStr_2=p.K531R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=1357;refseq.spliceDist_2=1357;refseq.start_1=42881280;refseq.start_2=42881280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr19 42881456 . T C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=98.84;MQ0=0;OQ=15771.98;QD=38.66;RankSumP=1.00000;SB=-7474.84;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1413A>G;refseq.codingCoordStr_2=c.1416A>G;refseq.codonCoord_1=471;refseq.codonCoord_2=472;refseq.end_1=42881456;refseq.end_2=42881456;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1661;refseq.mrnaCoord_2=2012;refseq.name2_1=ZNF607;refseq.name2_2=ZNF607;refseq.name_1=NM_001172677;refseq.name_2=NM_032689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T471T;refseq.proteinCoordStr_2=p.T472T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1181;refseq.spliceDist_2=1181;refseq.start_1=42881456;refseq.start_2=42881456;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 42894356 . A C 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=492;Dels=0.00;HRun=1;HaplotypeScore=7.89;MQ=98.70;MQ0=0;OQ=19843.20;QD=40.33;RankSumP=1.00000;SB=-9504.86;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.4T>G;refseq.codingCoordStr_2=c.4T>G;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.end_1=42894356;refseq.end_2=42894356;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=252;refseq.mrnaCoord_2=600;refseq.name2_1=ZNF607;refseq.name2_2=ZNF607;refseq.name_1=NM_001172677;refseq.name_2=NM_032689;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2A;refseq.proteinCoordStr_2=p.S2A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=42894356;refseq.start_2=42894356;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr19 42921664 . T C 405.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.70;MQ0=0;OQ=8780.39;QD=40.28;RankSumP=1.00000;SB=-2653.69;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.1303A>G;refseq.codingCoordStr_2=c.1567A>G;refseq.codingCoordStr_3=c.1561A>G;refseq.codingCoordStr_4=c.1303A>G;refseq.codingCoordStr_5=c.1393A>G;refseq.codonCoord_1=435;refseq.codonCoord_2=523;refseq.codonCoord_3=521;refseq.codonCoord_4=435;refseq.codonCoord_5=465;refseq.end_1=42921664;refseq.end_2=42921664;refseq.end_3=42921664;refseq.end_4=42921664;refseq.end_5=42921664;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1827;refseq.mrnaCoord_2=1636;refseq.mrnaCoord_3=1630;refseq.mrnaCoord_4=1503;refseq.mrnaCoord_5=1895;refseq.name2_1=ZNF573;refseq.name2_2=ZNF573;refseq.name2_3=ZNF573;refseq.name2_4=ZNF573;refseq.name2_5=ZNF573;refseq.name_1=NM_001172689;refseq.name_2=NM_001172690;refseq.name_3=NM_001172691;refseq.name_4=NM_001172692;refseq.name_5=NM_152360;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M435V;refseq.proteinCoordStr_2=p.M523V;refseq.proteinCoordStr_3=p.M521V;refseq.proteinCoordStr_4=p.M435V;refseq.proteinCoordStr_5=p.M465V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=-622;refseq.spliceDist_2=-622;refseq.spliceDist_3=-622;refseq.spliceDist_4=-622;refseq.spliceDist_5=-622;refseq.start_1=42921664;refseq.start_2=42921664;refseq.start_3=42921664;refseq.start_4=42921664;refseq.start_5=42921664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 1/1 chr19 43264734 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.78;MQ0=0;OQ=1745.19;QD=12.93;RankSumP=0.0109882;SB=-859.66;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.689C>T;refseq.codonCoord=230;refseq.end=43264734;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1198;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P230L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-846;refseq.start=43264734;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr19 43264979 . G T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.76;MQ0=0;OQ=205.45;QD=11.41;RankSumP=0.703131;SB=-57.73;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.934G>T;refseq.codonCoord=312;refseq.end=43264979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1443;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G312W;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-601;refseq.start=43264979;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr19 43282540 . T C 228.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=303;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=98.70;MQ0=0;OQ=5010.57;QD=16.54;RankSumP=0.393248;SB=-1991.76;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1764T>C;refseq.codonCoord=588;refseq.end=43282540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2273;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y588Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-91;refseq.start=43282540;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 43312997 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2888A>G;refseq.codonCoord=963;refseq.end=43312997;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3397;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E963G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=20;refseq.start=43312997;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 43344833 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.43;MQ0=0;OQ=885.70;QD=11.36;RankSumP=0.394300;SB=-349.24;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3762C>T;refseq.codonCoord=1254;refseq.end=43344833;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4271;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1254S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-19;refseq.start=43344833;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr19 43347359 . G C 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=7;HRun=1;RankSumP=0.0188329;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4181G>C;refseq.codonCoord=1394;refseq.end=43347359;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4690;refseq.name=NM_015073;refseq.name2=SIPA1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1394A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-28;refseq.start=43347359;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap GT 0/1 chr19 43543033 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1673T>G;refseq.codonCoord=558;refseq.end=43543033;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1760;refseq.name=NM_021185;refseq.name2=CATSPERG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V558G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=65;refseq.start=43543033;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 43543293 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=5.46690e-05;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1850A>C;refseq.codonCoord=617;refseq.end=43543293;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1937;refseq.name=NM_021185;refseq.name2=CATSPERG;refseq.positionType=CDS;refseq.proteinCoordStr=p.H617P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-31;refseq.start=43543293;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 43543295 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=65;Dels=0.00;HRun=2;HaplotypeScore=9.09;MQ=93.66;MQ0=0;OQ=249.86;QD=3.84;RankSumP=0.558836;SB=41.15;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1852A>C;refseq.codonCoord=618;refseq.end=43543295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1939;refseq.name=NM_021185;refseq.name2=CATSPERG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T618P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-29;refseq.start=43543295;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr19 43553173 . G A 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=618;Dels=0.00;HRun=0;HaplotypeScore=19.57;MQ=98.80;MQ0=0;OQ=25610.75;QD=41.44;RankSumP=1.00000;SB=-11714.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3381G>A;refseq.codonCoord=1127;refseq.end=43553173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3468;refseq.name=NM_021185;refseq.name2=CATSPERG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1127P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=168;refseq.start=43553173;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 43627120 . A G 346.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=94.73;MQ0=0;OQ=4448.38;QD=39.37;RankSumP=1.00000;SB=-2225.01;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.594A>G;refseq.codingCoordStr_2=c.594A>G;refseq.codonCoord_1=198;refseq.codonCoord_2=198;refseq.end_1=43627120;refseq.end_2=43627120;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=724;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L198L;refseq.proteinCoordStr_2=p.L198L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=43627120;refseq.start_2=43627120;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr19 43631248 . T C 102.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=98.00;MQ0=0;OQ=2468.76;QD=34.29;RankSumP=1.00000;SB=-687.61;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1077T>C;refseq.codingCoordStr_2=c.1077T>C;refseq.codonCoord_1=359;refseq.codonCoord_2=359;refseq.end_1=43631248;refseq.end_2=43631248;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1207;refseq.mrnaCoord_2=1207;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A359A;refseq.proteinCoordStr_2=p.A359A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=43631248;refseq.start_2=43631248;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr19 43638022 . G A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=36.92;MQ=98.42;MQ0=0;OQ=5982.68;QD=31.32;RankSumP=1.00000;SB=-704.35;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1668G>A;refseq.codingCoordStr_2=c.1668G>A;refseq.codonCoord_1=556;refseq.codonCoord_2=556;refseq.end_1=43638022;refseq.end_2=43638022;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1798;refseq.mrnaCoord_2=1798;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S556S;refseq.proteinCoordStr_2=p.S556S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=43638022;refseq.start_2=43638022;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr19 43641744 . C T 225.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.51;MQ0=0;OQ=6868.63;QD=35.41;RankSumP=1.00000;SB=-2042.16;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2286C>T;refseq.codingCoordStr_2=c.2286C>T;refseq.codonCoord_1=762;refseq.codonCoord_2=762;refseq.end_1=43641744;refseq.end_2=43641744;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2416;refseq.mrnaCoord_2=2416;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P762P;refseq.proteinCoordStr_2=p.P762P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=43641744;refseq.start_2=43641744;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 43648643 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=7.33;MQ=99.00;MQ0=0;OQ=1386.93;QD=12.84;RankSumP=0.0299613;SB=-566.52;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2943G>A;refseq.codingCoordStr_2=c.2943G>A;refseq.codonCoord_1=981;refseq.codonCoord_2=981;refseq.end_1=43648643;refseq.end_2=43648643;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3073;refseq.mrnaCoord_2=3073;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T981T;refseq.proteinCoordStr_2=p.T981T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=43648643;refseq.start_2=43648643;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr19 43648679 . C T 222.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=8.30;MQ=98.84;MQ0=0;OQ=2096.75;QD=14.17;RankSumP=0.272640;SB=-1061.51;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2979C>T;refseq.codingCoordStr_2=c.2979C>T;refseq.codonCoord_1=993;refseq.codonCoord_2=993;refseq.end_1=43648679;refseq.end_2=43648679;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3109;refseq.mrnaCoord_2=3109;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N993N;refseq.proteinCoordStr_2=p.N993N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=43648679;refseq.start_2=43648679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr19 43651520 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=389;Dels=0.00;HRun=1;HaplotypeScore=16.41;MQ=98.74;MQ0=0;OQ=7218.92;QD=18.56;RankSumP=0.341505;SB=-1968.01;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.3456C>T;refseq.codingCoordStr_2=c.3456C>T;refseq.codonCoord_1=1152;refseq.codonCoord_2=1152;refseq.end_1=43651520;refseq.end_2=43651520;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3586;refseq.mrnaCoord_2=3586;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I1152I;refseq.proteinCoordStr_2=p.I1152I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=43651520;refseq.start_2=43651520;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr19 43668114 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.4979G>C;refseq.codingCoordStr_2=c.4979G>C;refseq.codonCoord_1=1660;refseq.codonCoord_2=1660;refseq.end_1=43668114;refseq.end_2=43668114;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5109;refseq.mrnaCoord_2=5109;refseq.name2_1=RYR1;refseq.name2_2=RYR1;refseq.name_1=NM_000540;refseq.name_2=NM_001042723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1660P;refseq.proteinCoordStr_2=p.R1660P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=43668114;refseq.start_2=43668114;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 43793755 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.696C>A;refseq.codingCoordStr_2=c.696C>A;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.end_1=43793755;refseq.end_2=43793755;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=804;refseq.mrnaCoord_2=804;refseq.name2_1=MAP4K1;refseq.name2_2=MAP4K1;refseq.name_1=NM_001042600;refseq.name_2=NM_007181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y232*;refseq.proteinCoordStr_2=p.Y232*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=43793755;refseq.start_2=43793755;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chr19 43800304 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.72T>G;refseq.codingCoordStr_2=c.72T>G;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=43800304;refseq.end_2=43800304;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=180;refseq.mrnaCoord_2=180;refseq.name2_1=MAP4K1;refseq.name2_2=MAP4K1;refseq.name_1=NM_001042600;refseq.name_2=NM_007181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G24G;refseq.proteinCoordStr_2=p.G24G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=43800304;refseq.start_2=43800304;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 43808559 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.331A>C;refseq.codonCoord=111;refseq.end=43808559;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=518;refseq.name=NM_013234;refseq.name2=EIF3K;refseq.positionType=CDS;refseq.proteinCoordStr=p.T111P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-24;refseq.start=43808559;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 43817511 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.538A>G;refseq.codonCoord=180;refseq.end=43817511;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_013234;refseq.name2=EIF3K;refseq.positionType=CDS;refseq.proteinCoordStr=p.S180G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=39;refseq.start=43817511;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr19 43888585 . C T 401.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=3779.32;QD=42.46;RankSumP=1.00000;SB=-1351.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.546C>T;refseq.codonCoord=182;refseq.end=43888585;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_004924;refseq.name2=ACTN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N182N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-27;refseq.start=43888585;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 43906998 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1963G>C;refseq.codonCoord=655;refseq.end=43906998;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2022;refseq.name=NM_004924;refseq.name2=ACTN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A655P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-48;refseq.start=43906998;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 43913668 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1993A>C;refseq.codonCoord=665;refseq.end=43913668;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2302;refseq.name=NM_144691;refseq.name2=CAPN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T665P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=36;refseq.start=43913668;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 43913670 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1991T>C;refseq.codonCoord=664;refseq.end=43913670;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2300;refseq.name=NM_144691;refseq.name2=CAPN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.L664P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=34;refseq.start=43913670;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 43916253 . A G 442.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=3666.01;QD=40.29;RankSumP=1.00000;SB=-1476.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1887T>C;refseq.codonCoord=629;refseq.end=43916253;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2196;refseq.name=NM_144691;refseq.name2=CAPN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.F629F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=43916253;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 43916620 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.chr=chr19;refseq.codingCoordStr=c.1878+2;refseq.end=43916620;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_144691;refseq.name2=CAPN12;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=43916620;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr19 43924986 . A G 149.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=97.47;MQ0=0;OQ=1552.70;QD=33.75;RankSumP=1.00000;SB=-474.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.330T>C;refseq.codonCoord=110;refseq.end=43924986;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_144691;refseq.name2=CAPN12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A110A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=23;refseq.start=43924986;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 43954462 . C G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.144G>C;refseq.codonCoord=48;refseq.end=43954462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=169;refseq.name=NM_002307;refseq.name2=LGALS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=49;refseq.start=43954462;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/1 chr19 44013927 . T G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=20.04;MQ=97.80;MQ0=0;OQ=5195.09;QD=30.20;RankSumP=1.00000;SB=-1052.09;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.122A>C;refseq.codonCoord=41;refseq.end=44013927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_001398;refseq.name2=ECH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E41A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=70;refseq.start=44013927;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 44052560 . G A 19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=80.77;QD=11.54;RankSumP=0.125000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.863C>T;refseq.codonCoord=288;refseq.end=44052560;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1251;refseq.name=NM_198445;refseq.name2=RINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-138;refseq.start=44052560;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 1/0 chr19 44100586 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.956A>C;refseq.codingCoordStr_2=c.950A>C;refseq.codonCoord_1=319;refseq.codonCoord_2=317;refseq.end_1=44100586;refseq.end_2=44100586;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1116;refseq.mrnaCoord_2=1110;refseq.name2_1=SARS2;refseq.name2_2=SARS2;refseq.name_1=NM_001145901;refseq.name_2=NM_017827;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D319A;refseq.proteinCoordStr_2=p.D317A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=44100586;refseq.start_2=44100586;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr19 44125139 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=98.63;MQ0=0;OQ=1510.81;QD=11.90;RankSumP=0.253330;SB=-682.49;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.786T>C;refseq.codingCoordStr_2=c.813T>C;refseq.codonCoord_1=262;refseq.codonCoord_2=271;refseq.end_1=44125139;refseq.end_2=44125139;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=958;refseq.mrnaCoord_2=918;refseq.name2_1=FBXO17;refseq.name2_2=FBXO17;refseq.name_1=NM_024907;refseq.name_2=NM_148169;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y262Y;refseq.proteinCoordStr_2=p.Y271Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.start_1=44125139;refseq.start_2=44125139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr19 44131140 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=4.49807e-08;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.368A>G;refseq.codingCoordStr_2=c.395A>G;refseq.codonCoord_1=123;refseq.codonCoord_2=132;refseq.end_1=44131140;refseq.end_2=44131140;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=540;refseq.mrnaCoord_2=500;refseq.name2_1=FBXO17;refseq.name2_2=FBXO17;refseq.name_1=NM_024907;refseq.name_2=NM_148169;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E123G;refseq.proteinCoordStr_2=p.E132G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=44131140;refseq.start_2=44131140;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 44213531 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.550A>G;refseq.codonCoord=184;refseq.end=44213531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=632;refseq.name=NM_178820;refseq.name2=FBXO27;refseq.positionType=CDS;refseq.proteinCoordStr=p.I184V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-23;refseq.start=44213531;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr19 44213755 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.410T>G;refseq.codonCoord=137;refseq.end=44213755;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=492;refseq.name=NM_178820;refseq.name2=FBXO27;refseq.positionType=CDS;refseq.proteinCoordStr=p.V137G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=46;refseq.start=44213755;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 44267837 . G A 209.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=9.75;MQ=99.00;MQ0=0;OQ=6822.88;QD=21.80;RankSumP=0.482495;SB=-1756.61;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.88G>A;refseq.codonCoord=30;refseq.end=44267837;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_001004318;refseq.name2=PAPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.A30T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-34;refseq.start=44267837;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 44281029 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=130;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=98.37;MQ0=0;OQ=1568.03;QD=12.06;RankSumP=0.206415;SB=-745.16;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.213C>T;refseq.codonCoord=71;refseq.end=44281029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=487;refseq.name=NM_001004318;refseq.name2=PAPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P71P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=92;refseq.start=44281029;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 44282795 . G A 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=619;Dels=0.00;HRun=0;HaplotypeScore=18.70;MQ=97.91;MQ0=0;OQ=22474.28;QD=36.31;RankSumP=1.00000;SB=-10064.07;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.594G>A;refseq.codonCoord=198;refseq.end=44282795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_001004318;refseq.name2=PAPL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P198P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-36;refseq.start=44282795;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 44379479 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.542857;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.17A>G;refseq.codonCoord=6;refseq.end=44379479;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=36;refseq.name=NM_001001414;refseq.name2=NCCRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E6G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=36;refseq.start=44379479;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 44426946 . T C 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=8.93;MQ=40.67;MQ0=23;QD=0.47;RankSumP=0.565245;SB=17.07;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.209A>G;refseq.codonCoord=70;refseq.end=44426946;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_172139;refseq.name2=IL28B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K70R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=29;refseq.start=44426946;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 1/0 chr19 44451666 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=0;RankSumP=0.601948;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.227A>G;refseq.codonCoord=76;refseq.end=44451666;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_172138;refseq.name2=IL28A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H76R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=35;refseq.start=44451666;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr19 44479016 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.115T>G;refseq.codonCoord=39;refseq.end=44479016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=212;refseq.name=NM_172140;refseq.name2=IL29;refseq.positionType=CDS;refseq.proteinCoordStr=p.F39V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-57;refseq.start=44479016;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr19 44480955 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=693;Dels=0.00;HRun=3;HaplotypeScore=24.40;MQ=98.60;MQ0=0;OQ=13136.71;QD=18.96;RankSumP=0.0839009;SB=-3288.44;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.562A>G;refseq.codonCoord=188;refseq.end=44480955;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=659;refseq.name=NM_172140;refseq.name2=IL29;refseq.positionType=CDS;refseq.proteinCoordStr=p.N188D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=85;refseq.start=44480955;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 44590507 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=5.17;MQ=97.64;MQ0=0;OQ=1342.02;QD=15.25;RankSumP=0.0268729;SB=-146.59;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=44590507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=367;refseq.name=NM_003407;refseq.name2=ZFP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.R103R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=285;refseq.start=44590507;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr19 44605547 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2013T>C;refseq.codonCoord=671;refseq.end=44605547;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2338;refseq.name=NM_022835;refseq.name2=PLEKHG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L671L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=336;refseq.start=44605547;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr19 44606588 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=679;Dels=0.00;HRun=2;HaplotypeScore=12.42;MQ=98.69;MQ0=0;OQ=13542.66;QD=19.95;RankSumP=0.318254;SB=-5562.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2975G>A;refseq.codonCoord=992;refseq.end=44606588;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3300;refseq.name=NM_022835;refseq.name2=PLEKHG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R992K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=376;refseq.start=44606588;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr19 44607477 . G A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=233.40;QD=11.67;RankSumP=0.0190641;SB=-10.00;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3864G>A;refseq.codonCoord=1288;refseq.end=44607477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4189;refseq.name=NM_022835;refseq.name2=PLEKHG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1288Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=1265;refseq.start=44607477;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr19 44607598 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=97.44;MQ0=0;OQ=249.85;QD=9.61;RankSumP=0.501651;SB=-52.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3985C>G;refseq.codonCoord=1329;refseq.end=44607598;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4310;refseq.name=NM_022835;refseq.name2=PLEKHG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1329A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1386;refseq.start=44607598;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 44618349 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=5.75;MQ=98.58;MQ0=0;OQ=1829.78;QD=14.41;RankSumP=0.0273377;SB=-808.60;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.27T>G;refseq.codonCoord=9;refseq.end=44618349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=110;refseq.name=NM_001020;refseq.name2=RPS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.S9S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-22;refseq.start=44618349;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 44618361 . G A 269.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=97.70;MQ0=0;OQ=1990.12;QD=15.55;RankSumP=0.130278;SB=-976.89;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.15C>T;refseq.codonCoord=5;refseq.end=44618361;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=98;refseq.name=NM_001020;refseq.name2=RPS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.G5G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-34;refseq.start=44618361;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 44635922 . C T 91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=214.54;QD=10.73;RankSumP=0.317939;SB=-37.51;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.162C>T;refseq.codingCoordStr_2=c.162C>T;refseq.codingCoordStr_3=c.162C>T;refseq.codingCoordStr_4=c.162C>T;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.codonCoord_4=54;refseq.end_1=44635922;refseq.end_2=44635922;refseq.end_3=44635922;refseq.end_4=44635922;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=341;refseq.mrnaCoord_2=266;refseq.mrnaCoord_3=341;refseq.mrnaCoord_4=405;refseq.name2_1=SUPT5H;refseq.name2_2=SUPT5H;refseq.name2_3=SUPT5H;refseq.name2_4=SUPT5H;refseq.name_1=NM_001111020;refseq.name_2=NM_001130824;refseq.name_3=NM_001130825;refseq.name_4=NM_003169;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y54Y;refseq.proteinCoordStr_2=p.Y54Y;refseq.proteinCoordStr_3=p.Y54Y;refseq.proteinCoordStr_4=p.Y54Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.spliceDist_3=-80;refseq.spliceDist_4=-80;refseq.start_1=44635922;refseq.start_2=44635922;refseq.start_3=44635922;refseq.start_4=44635922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 0/1 chr19 44647373 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=22.73;MQ=98.50;MQ0=0;OQ=8537.93;QD=19.40;RankSumP=0.0568534;SB=-3537.81;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.720G>A;refseq.codingCoordStr_2=c.720G>A;refseq.codingCoordStr_3=c.708G>A;refseq.codingCoordStr_4=c.720G>A;refseq.codonCoord_1=240;refseq.codonCoord_2=240;refseq.codonCoord_3=236;refseq.codonCoord_4=240;refseq.end_1=44647373;refseq.end_2=44647373;refseq.end_3=44647373;refseq.end_4=44647373;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=899;refseq.mrnaCoord_2=824;refseq.mrnaCoord_3=887;refseq.mrnaCoord_4=963;refseq.name2_1=SUPT5H;refseq.name2_2=SUPT5H;refseq.name2_3=SUPT5H;refseq.name2_4=SUPT5H;refseq.name_1=NM_001111020;refseq.name_2=NM_001130824;refseq.name_3=NM_001130825;refseq.name_4=NM_003169;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E240E;refseq.proteinCoordStr_2=p.E240E;refseq.proteinCoordStr_3=p.E236E;refseq.proteinCoordStr_4=p.E240E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.spliceDist_3=96;refseq.spliceDist_4=96;refseq.start_1=44647373;refseq.start_2=44647373;refseq.start_3=44647373;refseq.start_4=44647373;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=Intersection GT 1/0 chr19 44663272 . G C 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=98.09;MQ0=0;OQ=195.08;QD=10.84;RankSumP=0.518854;SB=-41.45;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.248G>C;refseq.codonCoord=83;refseq.end=44663272;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=381;refseq.name=NM_001001563;refseq.name2=TIMM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.S83T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-170;refseq.start=44663272;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr19 44685431 . C G 37.50 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=12.50;RankSumP=0.666667;SB=-40.88;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.546C>G;refseq.codingCoordStr_2=c.546C>G;refseq.codonCoord_1=182;refseq.codonCoord_2=182;refseq.end_1=44685431;refseq.end_2=44685431;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=604;refseq.name2_1=DLL3;refseq.name2_2=DLL3;refseq.name_1=NM_016941;refseq.name_2=NM_203486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A182A;refseq.proteinCoordStr_2=p.A182A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.start_1=44685431;refseq.start_2=44685431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/0 chr19 44686551 . T C 158.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=98.67;MQ0=0;OQ=2846.55;QD=12.71;RankSumP=0.0271413;SB=-862.18;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.653T>C;refseq.codingCoordStr_2=c.653T>C;refseq.codonCoord_1=218;refseq.codonCoord_2=218;refseq.end_1=44686551;refseq.end_2=44686551;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=711;refseq.mrnaCoord_2=711;refseq.name2_1=DLL3;refseq.name2_2=DLL3;refseq.name_1=NM_016941;refseq.name_2=NM_203486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L218P;refseq.proteinCoordStr_2=p.L218P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=44686551;refseq.start_2=44686551;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr19 44687867 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=19.42;MQ=97.34;MQ0=0;OQ=2770.90;QD=14.07;RankSumP=0.000291161;SB=-1114.48;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1029C>T;refseq.codingCoordStr_2=c.1029C>T;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.end_1=44687867;refseq.end_2=44687867;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1087;refseq.mrnaCoord_2=1087;refseq.name2_1=DLL3;refseq.name2_2=DLL3;refseq.name_1=NM_016941;refseq.name_2=NM_203486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P343P;refseq.proteinCoordStr_2=p.P343P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.start_1=44687867;refseq.start_2=44687867;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=filterInsoap-gatk GT 0/1 chr19 44715148 . A G 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=73.70;QD=9.21;RankSumP=0.314286;SB=-44.67;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.135T>C;refseq.codonCoord=45;refseq.end=44715148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=187;refseq.name=NM_152361;refseq.name2=EID2B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A45A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=187;refseq.start=44715148;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 44889764 . T C 115.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=788;Dels=0.00;HRun=0;HaplotypeScore=12.43;MQ=98.86;MQ0=0;OQ=31082.00;QD=39.44;RankSumP=1.00000;SB=-9510.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.199T>C;refseq.codingCoordStr_2=c.286T>C;refseq.codonCoord_1=67;refseq.codonCoord_2=96;refseq.end_1=44889764;refseq.end_2=44889764;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=727;refseq.name2_1=LGALS14;refseq.name2_2=LGALS14;refseq.name_1=NM_020129;refseq.name_2=NM_203471;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C67R;refseq.proteinCoordStr_2=p.C96R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-105;refseq.spliceDist_2=-105;refseq.start_1=44889764;refseq.start_2=44889764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr19 44891754 . C G 163.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.46;MQ0=0;OQ=10155.53;QD=48.82;RankSumP=1.00000;SB=-3535.70;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.381C>G;refseq.codingCoordStr_2=c.468C>G;refseq.codonCoord_1=127;refseq.codonCoord_2=156;refseq.end_1=44891754;refseq.end_2=44891754;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=909;refseq.name2_1=LGALS14;refseq.name2_2=LGALS14;refseq.name_1=NM_020129;refseq.name_2=NM_203471;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F127L;refseq.proteinCoordStr_2=p.F156L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=44891754;refseq.start_2=44891754;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr19 44916826 . A G 311.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.52;MQ0=0;OQ=7233.59;QD=40.87;RankSumP=1.00000;SB=-2953.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.240T>C;refseq.codonCoord=80;refseq.end=44916826;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_001828;refseq.name2=CLC;refseq.positionType=CDS;refseq.proteinCoordStr=p.N80N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-64;refseq.start=44916826;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr19 44917486 . G A 362.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=349;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.25;MQ0=0;OQ=14341.17;QD=41.09;RankSumP=1.00000;SB=-4077.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.83C>T;refseq.codonCoord=28;refseq.end=44917486;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=159;refseq.name=NM_001828;refseq.name2=CLC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A28V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=44917486;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 45046258 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=1.08215e-07;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.16051G>T;refseq.codonCoord=5351;refseq.end=45046258;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=16059;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.G5351*;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=115;refseq.start=45046258;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=FilteredInAll GT 1/0 chr19 45052768 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=122;Dels=0.00;HRun=2;HaplotypeScore=5.83;MQ=98.76;MQ0=0;OQ=2160.51;QD=17.71;RankSumP=0.0615265;SB=-721.31;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.15480C>T;refseq.codonCoord=5160;refseq.end=45052768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=15488;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R5160R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-73;refseq.start=45052768;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr19 45055091 . A C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=3;RankSumP=0.00301364;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.14819T>G;refseq.codonCoord=4940;refseq.end=45055091;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=14827;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4940G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=41;refseq.start=45055091;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 45058202 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=12.88;MQ=64.84;MQ0=17;OQ=1218.95;QD=9.23;RankSumP=0.265694;SB=-251.35;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.13872C>G;refseq.codonCoord=4624;refseq.end=45058202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13880;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4624L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=210;refseq.start=45058202;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 45058214 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=7.80;MQ=58.03;MQ0=18;OQ=1867.12;QD=10.37;RankSumP=0.298924;SB=-289.94;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.13860C>G;refseq.codonCoord=4620;refseq.end=45058214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=13868;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4620P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=198;refseq.start=45058214;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr19 45059669 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.400000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.13131G>C;refseq.codonCoord=4377;refseq.end=45059669;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=13139;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T4377T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=86;refseq.start=45059669;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 45059736 . T G 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.500002;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.13064A>C;refseq.codonCoord=4355;refseq.end=45059736;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=13072;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N4355T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=45059736;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr19 45060216 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=1165;Dels=0.00;HRun=0;HaplotypeScore=48.25;MQ=44.87;MQ0=237;OQ=2154.03;QD=1.85;RankSumP=0.253377;SB=-400.67;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12972T>G;refseq.codonCoord=4324;refseq.end=45060216;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12980;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4324A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-74;refseq.start=45060216;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 0/1 chr19 45060235 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1115;Dels=0.00;HRun=0;HaplotypeScore=42.82;MQ=39.23;MQ0=409;OQ=10838.18;QD=9.72;RankSumP=0.0245133;SB=-2471.03;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.12953G>A;refseq.codonCoord=4318;refseq.end=45060235;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12961;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4318H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-93;refseq.start=45060235;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr19 45060318 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.000154038;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12870C>T;refseq.codonCoord=4290;refseq.end=45060318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12878;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P4290P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-176;refseq.start=45060318;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chr19 45060338 . A C 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=76.19;MQ0=19;OQ=6450.43;QD=31.47;RankSumP=1.00000;SB=-1448.51;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.12850T>G;refseq.codonCoord=4284;refseq.end=45060338;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12858;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S4284A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-196;refseq.start=45060338;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 45060339 . A C 69.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=8.94;MQ=75.95;MQ0=21;OQ=6482.14;QD=31.16;RankSumP=1.00000;SB=-1632.25;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12849T>G;refseq.codonCoord=4283;refseq.end=45060339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12857;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4283L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-197;refseq.start=45060339;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 45060537 . G A 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=0;RankSumP=0.112987;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12651C>T;refseq.codonCoord=4217;refseq.end=45060537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12659;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C4217C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=180;refseq.start=45060537;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr19 45060573 . G C 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=0;RankSumP=0.0350877;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12615C>G;refseq.codonCoord=4205;refseq.end=45060573;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12623;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L4205L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=144;refseq.start=45060573;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr19 45062113 rs2111545 C T 10.26 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=1272;Dels=0.00;HRun=0;HaplotypeScore=77.25;MQ=2.78;MQ0=1271;QD=0.01;SB=-10.00;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.12393G>A;refseq.codonCoord=4131;refseq.end=45062113;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=12401;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4131V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-79;refseq.start=45062113;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:951,318:1:-4.27,-0.30,-0.00:1.76 chr19 45062136 rs7247426 G C 12.35 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=815;Dels=0.00;HRun=0;HaplotypeScore=33.51;MQ=3.47;MQ0=814;QD=0.02;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.12370C>G;refseq.codonCoord=4124;refseq.end=45062136;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=12378;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q4124E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-102;refseq.start=45062136;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:683,129:1:-4.49,-0.30,-0.00:1.76 chr19 45065874 rs3746009 A G 0.01 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=21.23;MQ0=51;OQ=78.17;QD=1.35;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.12044T>C;refseq.codonCoord=4015;refseq.end=45065874;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12052;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V4015A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=53;refseq.start=45065874;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:24,34:3:-11.31,-0.90,-0.00:9.03 chr19 45068515 . G A 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=1572;Dels=0.00;HRun=0;HaplotypeScore=35.34;MQ=17.33;MQ0=900;OQ=5809.34;QD=3.70;RankSumP=0.764180;SB=-1024.88;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.11747C>T;refseq.codonCoord=3916;refseq.end=45068515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11755;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A3916V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-45;refseq.start=45068515;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/0 chr19 45068639 . A G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.505087;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.11623T>C;refseq.codonCoord=3875;refseq.end=45068639;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=11631;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3875P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-169;refseq.start=45068639;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 45068720 . T C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.224195;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.11542A>G;refseq.codonCoord=3848;refseq.end=45068720;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=11550;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.K3848E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-250;refseq.start=45068720;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr19 45068721 . G C 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.464700;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.11541C>G;refseq.codonCoord=3847;refseq.end=45068721;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=11549;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D3847E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-251;refseq.start=45068721;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr19 45074145 . C T 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.642857;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.10581G>A;refseq.codonCoord=3527;refseq.end=45074145;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=10589;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E3527E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-23;refseq.start=45074145;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chr19 45075989 . T G 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.100000;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.9461A>C;refseq.codonCoord=3154;refseq.end=45075989;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=9469;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N3154T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=45075989;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 45083843 . A G 3 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.8383T>C;refseq.codonCoord=2795;refseq.end=45083843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8391;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2795H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=45083843;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=FilteredInAll GT 1/1 chr19 45084199 rs2569779 T C 1.33 PASS AC=2;AF=1.00;AN=2;DB;DP=136;Dels=0.00;HRun=1;HaplotypeScore=13.20;MQ=16.47;MQ0=119;OQ=237.83;QD=1.75;SB=-121.88;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.8145A>G;refseq.codonCoord=2715;refseq.end=45084199;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8153;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2715A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-44;refseq.start=45084199;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 1/1:3,133:7:-27.36,-2.11,-0.00:21.07 chr19 45084322 . A G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=15.86;MQ=37.48;MQ0=35;OQ=452.68;QD=8.71;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.8022T>C;refseq.codonCoord=2674;refseq.end=45084322;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8030;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2674S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-167;refseq.start=45084322;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr19 45084324 . A G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=2;RankSumP=0.718659;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.8020T>C;refseq.codonCoord=2674;refseq.end=45084324;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8028;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2674P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-169;refseq.start=45084324;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap GT 0/1 chr19 45084425 rs2542321 T G 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=25.21;MQ=56.88;MQ0=19;OQ=118.81;QD=1.06;SB=-26.59;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7919A>C;refseq.codonCoord=2640;refseq.end=45084425;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7927;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2640A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-270;refseq.start=45084425;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=gatk GT:AD:DP:GL:GQ 0/1:89,21:85:-40.77,-25.60,-285.82:99 chr19 45084428 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=24.21;MQ=54.46;MQ0=24;OQ=1378.91;QD=12.20;RankSumP=0.548447;SB=-629.09;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7916G>A;refseq.codonCoord=2639;refseq.end=45084428;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7924;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2639N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-273;refseq.start=45084428;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr19 45084471 . G A 0.05 PASS AC=1;AF=0.50;AN=2;DP=160;Dels=0.00;HRun=0;HaplotypeScore=15.96;MQ=28.93;MQ0=126;OQ=79.34;QD=0.50;SB=-37.63;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7873C>T;refseq.codonCoord=2625;refseq.end=45084471;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7881;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2625S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=280;refseq.start=45084471;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=gatk GT:AD:DP:GL:GQ 0/1:113,43:15:-15.73,-4.52,-44.84:99 chr19 45084642 . C T 40.23 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=471;Dels=0.00;HRun=0;HaplotypeScore=16.74;MQ=5.33;MQ0=469;QD=0.09;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.7702G>A;refseq.codonCoord=2568;refseq.end=45084642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7710;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2568T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=109;refseq.start=45084642;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:366,103:2:-7.43,-0.60,-0.00:6.02 chr19 45097859 . G A 19.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=74.70;MQ0=8;OQ=640.02;QD=24.62;RankSumP=0.656250;SB=-183.68;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4827C>T;refseq.codonCoord=1609;refseq.end=45097859;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4835;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1609C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=42;refseq.start=45097859;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=filterInsoap-gatk GT 1/0 chr19 45100262 . A G 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.548393;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4417T>C;refseq.codonCoord=1473;refseq.end=45100262;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4425;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1473P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-169;refseq.start=45100262;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 0/1 chr19 45100265 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=6;HRun=2;RankSumP=0.340037;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4414T>C;refseq.codonCoord=1472;refseq.end=45100265;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4422;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1472P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-172;refseq.start=45100265;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 45100266 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=5;HRun=0;RankSumP=0.291282;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.4413G>C;refseq.codonCoord=1471;refseq.end=45100266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4421;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1471L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-173;refseq.start=45100266;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT 1/0 chr19 45100372 . G A 118.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=88.60;MQ0=0;OQ=1490.56;QD=14.06;RankSumP=0.0556862;SB=-674.13;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4307C>T;refseq.codonCoord=1436;refseq.end=45100372;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4315;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1436L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-279;refseq.start=45100372;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 45100661 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.43;MQ0=32;OQ=575.69;QD=9.14;RankSumP=0.688781;SB=-242.53;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4018G>C;refseq.codonCoord=1340;refseq.end=45100661;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4026;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1340L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=28;refseq.start=45100661;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 45104052 . T G 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.0717667;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3416A>C;refseq.codonCoord=1139;refseq.end=45104052;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3424;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1139P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=19;refseq.start=45104052;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chr19 45111927 . G A 281.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=98.69;MQ0=0;OQ=1670.49;QD=16.70;RankSumP=0.167292;SB=-710.20;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2907C>T;refseq.codonCoord=969;refseq.end=45111927;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2915;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A969A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=78;refseq.start=45111927;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr19 45113452 . T C 27.02 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;QD=3.38;RankSumP=0.214286;SB=2.04;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2309A>G;refseq.codonCoord=770;refseq.end=45113452;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2317;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N770S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=85;refseq.start=45113452;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chr19 45122176 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1607A>C;refseq.codonCoord=536;refseq.end=45122176;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1615;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y536S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-47;refseq.start=45122176;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr19 45124882 . G A 194.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=98.38;MQ0=0;OQ=2061.14;QD=17.18;RankSumP=0.474389;SB=-754.74;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1227C>T;refseq.codonCoord=409;refseq.end=45124882;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1235;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A409A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-77;refseq.start=45124882;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr19 45125423 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=336;Dels=0.00;HRun=0;HaplotypeScore=10.12;MQ=98.89;MQ0=0;OQ=5725.35;QD=17.04;RankSumP=0.291123;SB=-2023.13;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.686C>T;refseq.codonCoord=229;refseq.end=45125423;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_003890;refseq.name2=FCGBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A229V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-618;refseq.start=45125423;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 45169978 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.122A>C;refseq.codingCoordStr_2=c.122A>C;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=45169978;refseq.end_2=45169978;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=159;refseq.mrnaCoord_2=159;refseq.name2_1=PSMC4;refseq.name2_2=PSMC4;refseq.name_1=NM_006503;refseq.name_2=NM_153001;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y41S;refseq.proteinCoordStr_2=p.Y41S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=45169978;refseq.start_2=45169978;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr19 45170202 . T C 146.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=6.56;MQ=99.00;MQ0=0;OQ=1424.13;QD=15.31;RankSumP=0.480801;SB=-613.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.222T>C;refseq.codingCoordStr_2=c.136-7;refseq.codonCoord_1=74;refseq.end_1=45170202;refseq.end_2=45170202;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=259;refseq.name2_1=PSMC4;refseq.name2_2=PSMC4;refseq.name_1=NM_006503;refseq.name_2=NM_153001;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=intron;refseq.proteinCoordStr_1=p.H74H;refseq.referenceAA_1=His;refseq.referenceCodon_1=CAT;refseq.spliceDist_1=87;refseq.spliceDist_2=-7;refseq.spliceInfo_2=splice-acceptor_-7;refseq.start_1=45170202;refseq.start_2=45170202;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantCodon_1=CAC;set=Intersection GT 1/0 chr19 45177664 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.774A>C;refseq.codingCoordStr_2=c.681A>C;refseq.codonCoord_1=258;refseq.codonCoord_2=227;refseq.end_1=45177664;refseq.end_2=45177664;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=718;refseq.name2_1=PSMC4;refseq.name2_2=PSMC4;refseq.name_1=NM_006503;refseq.name_2=NM_153001;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A258A;refseq.proteinCoordStr_2=p.A227A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=45177664;refseq.start_2=45177664;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr19 45403881 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1412G>C;refseq.codonCoord=471;refseq.end=45403881;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1700;refseq.name=NM_002446;refseq.name2=MAP3K10;refseq.positionType=CDS;refseq.proteinCoordStr=p.G471A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-24;refseq.start=45403881;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 45410916 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=227.52;QD=5.99;RankSumP=0.148464;SB=-88.97;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1818T>C;refseq.codonCoord=606;refseq.end=45410916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2106;refseq.name=NM_002446;refseq.name2=MAP3K10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F606F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-20;refseq.start=45410916;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 45411919 . C T 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=99.00;MQ0=0;OQ=116.77;QD=14.60;RankSumP=0.206349;SB=-6.99;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2493C>T;refseq.codonCoord=831;refseq.end=45411919;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2781;refseq.name=NM_002446;refseq.name2=MAP3K10;refseq.positionType=CDS;refseq.proteinCoordStr=p.D831D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-50;refseq.start=45411919;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 45592705 . C T 328.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.02;MQ0=0;OQ=3336.15;QD=39.25;RankSumP=1.00000;SB=-1579.72;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*3599G>A;refseq.codingCoordStr_2=c.3394G>A;refseq.codonCoord_2=1132;refseq.end_1=45592705;refseq.end_2=45592705;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4312;refseq.mrnaCoord_2=3663;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G1132R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-1195;refseq.spliceDist_2=-1195;refseq.start_1=45592705;refseq.start_2=45592705;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGG;set=Intersection GT 1/1 chr19 45592851 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=59;Dels=0.00;HRun=5;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=944.82;QD=16.01;RankSumP=0.249493;SB=-152.72;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*3453C>G;refseq.codingCoordStr_2=c.3248C>G;refseq.codonCoord_2=1083;refseq.end_1=45592851;refseq.end_2=45592851;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4166;refseq.mrnaCoord_2=3517;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P1083R;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-1341;refseq.spliceDist_2=-1341;refseq.start_1=45592851;refseq.start_2=45592851;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=soap-filterIngatk GT 0/1 chr19 45593336 . T C 162.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=98.33;MQ0=0;OQ=2621.98;QD=19.86;RankSumP=0.330167;SB=-800.62;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2968A>G;refseq.codingCoordStr_2=c.2763A>G;refseq.codonCoord_2=921;refseq.end_1=45593336;refseq.end_2=45593336;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3681;refseq.mrnaCoord_2=3032;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I921M;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-1826;refseq.spliceDist_2=-1826;refseq.start_1=45593336;refseq.start_2=45593336;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr19 45593444 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=96.27;MQ0=0;OQ=1406.60;QD=30.58;RankSumP=1.00000;SB=-711.29;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2860T>C;refseq.codingCoordStr_2=c.2655T>C;refseq.codonCoord_2=885;refseq.end_1=45593444;refseq.end_2=45593444;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3573;refseq.mrnaCoord_2=2924;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P885P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-1934;refseq.spliceDist_2=-1934;refseq.start_1=45593444;refseq.start_2=45593444;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr19 45593454 . A G 145.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=95.59;MQ0=0;OQ=1140.37;QD=30.82;RankSumP=1.00000;SB=-589.33;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2850T>C;refseq.codingCoordStr_2=c.2645T>C;refseq.codonCoord_2=882;refseq.end_1=45593454;refseq.end_2=45593454;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3563;refseq.mrnaCoord_2=2914;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V882A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-1944;refseq.spliceDist_2=-1944;refseq.start_1=45593454;refseq.start_2=45593454;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 45593487 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.557957;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2817T>C;refseq.codingCoordStr_2=c.2612T>C;refseq.codonCoord_2=871;refseq.end_1=45593487;refseq.end_2=45593487;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3530;refseq.mrnaCoord_2=2881;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V871A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-1977;refseq.spliceDist_2=-1977;refseq.start_1=45593487;refseq.start_2=45593487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=soap GT 0/1 chr19 45593488 . C G 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.000391321;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*2816G>C;refseq.codingCoordStr_2=c.2611G>C;refseq.codonCoord_2=871;refseq.end_1=45593488;refseq.end_2=45593488;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3529;refseq.mrnaCoord_2=2880;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V871L;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-1978;refseq.spliceDist_2=-1978;refseq.start_1=45593488;refseq.start_2=45593488;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr19 45596442 . G A 245.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=97.98;MQ0=0;OQ=1291.92;QD=15.95;RankSumP=0.421963;SB=-528.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.306C>T;refseq.codingCoordStr_2=c.306C>T;refseq.codonCoord_1=102;refseq.codonCoord_2=102;refseq.end_1=45596442;refseq.end_2=45596442;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=575;refseq.mrnaCoord_2=575;refseq.name2_1=PRX;refseq.name2_2=PRX;refseq.name_1=NM_020956;refseq.name_2=NM_181882;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T102T;refseq.proteinCoordStr_2=p.T102T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=122;refseq.spliceDist_2=-76;refseq.start_1=45596442;refseq.start_2=45596442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr19 45620784 . A G 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=94.80;MQ0=0;OQ=87.61;QD=6.74;RankSumP=0.657051;SB=-44.67;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.510T>C;refseq.codonCoord=170;refseq.end=45620784;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=669;refseq.name=NM_013376;refseq.name2=SERTAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L170L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=510;refseq.start=45620784;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr19 45621203 . T C 198.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=8.32;MQ=98.68;MQ0=0;OQ=5538.24;QD=34.83;RankSumP=1.00000;SB=-1227.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.91A>G;refseq.codonCoord=31;refseq.end=45621203;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_013376;refseq.name2=SERTAD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T31A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=91;refseq.start=45621203;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 45639288 . A G 105.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=97.57;MQ0=0;OQ=1952.26;QD=14.15;RankSumP=0.484044;SB=-993.30;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.540T>C;refseq.codingCoordStr_2=c.540T>C;refseq.codonCoord_1=180;refseq.codonCoord_2=180;refseq.end_1=45639288;refseq.end_2=45639288;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=818;refseq.mrnaCoord_2=707;refseq.name2_1=SERTAD3;refseq.name2_2=SERTAD3;refseq.name_1=NM_013368;refseq.name_2=NM_203344;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S180S;refseq.proteinCoordStr_2=p.S180S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=546;refseq.spliceDist_2=546;refseq.start_1=45639288;refseq.start_2=45639288;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr19 45639591 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=99.00;MQ0=0;OQ=329.89;QD=15.71;RankSumP=0.339216;SB=-119.97;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.237C>T;refseq.codingCoordStr_2=c.237C>T;refseq.codonCoord_1=79;refseq.codonCoord_2=79;refseq.end_1=45639591;refseq.end_2=45639591;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=404;refseq.name2_1=SERTAD3;refseq.name2_2=SERTAD3;refseq.name_1=NM_013368;refseq.name_2=NM_203344;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P79P;refseq.proteinCoordStr_2=p.P79P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=243;refseq.spliceDist_2=243;refseq.start_1=45639591;refseq.start_2=45639591;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr19 45645790 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=1.06577e-09;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.467A>C;refseq.codonCoord=156;refseq.end=45645790;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=597;refseq.name=NM_000713;refseq.name2=BLVRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D156A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=45645790;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 45656152 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=216.43;QD=8.66;RankSumP=0.513978;SB=-73.06;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.220C>T;refseq.codonCoord=74;refseq.end=45656152;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=350;refseq.name=NM_000713;refseq.name2=BLVRB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L74L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-25;refseq.start=45656152;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr19 45754820 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.5341C>G;refseq.codingCoordStr_2=c.1369C>G;refseq.codonCoord_1=1781;refseq.codonCoord_2=457;refseq.end_1=45754820;refseq.end_2=45754820;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5443;refseq.mrnaCoord_2=1496;refseq.name2_1=SPTBN4;refseq.name2_2=SPTBN4;refseq.name_1=NM_020971;refseq.name_2=NM_025213;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1781G;refseq.proteinCoordStr_2=p.R457G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=45754820;refseq.start_2=45754820;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 45774708 . T C 16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=92.34;MQ0=0;OQ=165.99;QD=13.83;RankSumP=0.800000;SB=-104.83;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.63T>C;refseq.codonCoord=21;refseq.end=45774708;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=112;refseq.name=NM_138392;refseq.name2=SHKBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I21I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-24;refseq.start=45774708;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=filterInsoap-gatk GT 1/0 chr19 45788029 . A G 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1285.60;QD=33.83;RankSumP=1.00000;SB=-423.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1629A>G;refseq.codonCoord=543;refseq.end=45788029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_138392;refseq.name2=SHKBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T543T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=40;refseq.start=45788029;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 45867656 . T G 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=1.83449e-08;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1146A>C;refseq.codonCoord=382;refseq.end=45867656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1314;refseq.name=NM_004756;refseq.name2=NUMBL;refseq.positionType=CDS;refseq.proteinCoordStr=p.P382P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-14;refseq.start=45867656;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 45902896 . T C 313.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1668.75;QD=34.77;RankSumP=1.00000;SB=-809.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.398A>G;refseq.codingCoordStr_2=c.521A>G;refseq.codonCoord_1=133;refseq.codonCoord_2=174;refseq.end_1=45902896;refseq.end_2=45902896;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=823;refseq.name2_1=ADCK4;refseq.name2_2=ADCK4;refseq.name_1=NM_001142555;refseq.name_2=NM_024876;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H133R;refseq.proteinCoordStr_2=p.H174R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=45902896;refseq.start_2=45902896;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 45973515 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.146T>G;refseq.codonCoord=49;refseq.end=45973515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_006533;refseq.name2=MIA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V49G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=19;refseq.start=45973515;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 46042504 . A T 234.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=84.66;MQ0=21;OQ=6805.69;QD=33.36;RankSumP=1.00000;SB=-2309.13;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1175T>A;refseq.codonCoord=392;refseq.end=46042504;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1196;refseq.name=NM_000762;refseq.name2=CYP2A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F392Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=14;refseq.start=46042504;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr19 46046446 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=8.78;MQ=88.98;MQ0=9;OQ=967.25;QD=5.40;RankSumP=0.000271856;SB=-490.90;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.406C>A;refseq.codonCoord=136;refseq.end=46046446;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_000762;refseq.name2=CYP2A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R136R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=63;refseq.start=46046446;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 0/1 chr19 46046501 . T C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=84.15;MQ0=3;OQ=727.95;QD=11.37;RankSumP=0.147384;SB=-104.97;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.351A>G;refseq.codonCoord=117;refseq.end=46046501;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=372;refseq.name=NM_000762;refseq.name2=CYP2A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V117V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=46046501;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr19 46047689 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.0421161;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.217T>C;refseq.codonCoord=73;refseq.end=46047689;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_000762;refseq.name2=CYP2A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L73L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=37;refseq.start=46047689;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap GT 0/1 chr19 46048121 . T C 141 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=411;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=77.26;MQ0=0;OQ=16054.33;QD=39.06;RankSumP=1.00000;SB=-7873.98;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.51A>G;refseq.codonCoord=17;refseq.end=46048121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_000762;refseq.name2=CYP2A6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V17V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=72;refseq.start=46048121;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 46073487 . A C 67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=2;HaplotypeScore=4.71;MQ=78.98;MQ0=19;OQ=4031.24;QD=31.49;RankSumP=1.00000;SB=-51.57;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1436T>G;refseq.codingCoordStr_2=c.1283T>G;refseq.codonCoord_1=479;refseq.codonCoord_2=428;refseq.end_1=46073487;refseq.end_2=46073487;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1978;refseq.mrnaCoord_2=1825;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V479G;refseq.proteinCoordStr_2=p.V428G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=133;refseq.spliceDist_2=133;refseq.start_1=46073487;refseq.start_2=46073487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr19 46074993 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=20.19;MQ=79.90;MQ0=50;OQ=10404.09;QD=31.24;RankSumP=1.00000;SB=-4908.58;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1103T>C;refseq.codingCoordStr_2=c.950T>C;refseq.codonCoord_1=368;refseq.codonCoord_2=317;refseq.end_1=46074993;refseq.end_2=46074993;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1645;refseq.mrnaCoord_2=1492;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M368T;refseq.proteinCoordStr_2=p.M317T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=46074993;refseq.start_2=46074993;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 46075639 . G A 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=81.12;MQ0=89;OQ=15749.31;QD=33.51;RankSumP=1.00000;SB=-7090.36;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.931C>T;refseq.codingCoordStr_2=c.778C>T;refseq.codonCoord_1=311;refseq.codonCoord_2=260;refseq.end_1=46075639;refseq.end_2=46075639;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1473;refseq.mrnaCoord_2=1320;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R311C;refseq.proteinCoordStr_2=p.R260C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=46075639;refseq.start_2=46075639;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr19 46076515 . T C 362.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=9.86;MQ=43.72;MQ0=99;OQ=4043.75;QD=16.05;RankSumP=1.00000;SB=-1506.27;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.821A>G;refseq.codingCoordStr_2=c.668A>G;refseq.codonCoord_1=274;refseq.codonCoord_2=223;refseq.end_1=46076515;refseq.end_2=46076515;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1363;refseq.mrnaCoord_2=1210;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H274R;refseq.proteinCoordStr_2=p.H223R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=46076515;refseq.start_2=46076515;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 46077976 . A C 53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=0;HaplotypeScore=28.01;MQ=32.37;MQ0=165;OQ=7985.18;QD=20.63;RankSumP=1.00000;SB=-2887.25;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.507T>G;refseq.codingCoordStr_2=c.354T>G;refseq.codonCoord_1=169;refseq.codonCoord_2=118;refseq.end_1=46077976;refseq.end_2=46077976;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1049;refseq.mrnaCoord_2=896;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D169E;refseq.proteinCoordStr_2=p.D118E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=46077976;refseq.start_2=46077976;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 46078260 . A C 153.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=2.59;MQ=90.07;MQ0=8;OQ=6079.59;QD=35.14;RankSumP=1.00000;SB=-2575.90;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.457T>G;refseq.codingCoordStr_2=c.304T>G;refseq.codonCoord_1=153;refseq.codonCoord_2=102;refseq.end_1=46078260;refseq.end_2=46078260;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=999;refseq.mrnaCoord_2=846;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S153A;refseq.proteinCoordStr_2=p.S102A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=46078260;refseq.start_2=46078260;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 46078326 . C A 482.46 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=17;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=76.53;MQ0=2;QD=28.38;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.391G>T;refseq.codingCoordStr_2=c.238G>T;refseq.codonCoord_1=131;refseq.codonCoord_2=80;refseq.end_1=46078326;refseq.end_2=46078326;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=933;refseq.mrnaCoord_2=780;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A131S;refseq.proteinCoordStr_2=p.A80S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=46078326;refseq.start_2=46078326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/1 chr19 46078327 . A G 459.01 BadSOAPSNP;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=81.25;MQ0=1;QD=30.60;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.390T>C;refseq.codingCoordStr_2=c.237T>C;refseq.codonCoord_1=130;refseq.codonCoord_2=79;refseq.end_1=46078327;refseq.end_2=46078327;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=932;refseq.mrnaCoord_2=779;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F130F;refseq.proteinCoordStr_2=p.F79F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=46078327;refseq.start_2=46078327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=FilteredInAll GT 1/1 chr19 46078334 rs3815710 A C 180.21 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=81.18;MQ0=0;QD=20.02;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.383T>G;refseq.codingCoordStr_2=c.230T>G;refseq.codonCoord_1=128;refseq.codonCoord_2=77;refseq.end_1=46078334;refseq.end_2=46078334;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=925;refseq.mrnaCoord_2=772;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L128R;refseq.proteinCoordStr_2=p.L77R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=46078334;refseq.start_2=46078334;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,8:7:-21.60,-2.11,-0.01:21.04 chr19 46078367 rs3815711 G A 123.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=65.45;MQ0=1;OQ=72.88;QD=18.22;SB=-47.67;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.350C>T;refseq.codingCoordStr_2=c.197C>T;refseq.codonCoord_1=117;refseq.codonCoord_2=66;refseq.end_1=46078367;refseq.end_2=46078367;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=892;refseq.mrnaCoord_2=739;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_000764;refseq.name_2=NM_030589;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A117V;refseq.proteinCoordStr_2=p.A66V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=46078367;refseq.start_2=46078367;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=gatk GT:AD:DP:GL:GQ 1/1:0,4:3:-10.78,-0.90,-0.00:9.03 chr19 46079460 . A G 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=34.43;MQ0=74;OQ=505.15;QD=5.81;RankSumP=1.00000;SB=-187.85;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.217T>C;refseq.codonCoord_2=73;refseq.end_1=46079755;refseq.end_2=46079460;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=759;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_030589;refseq.name_2=NM_000764;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L73L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=37;refseq.start_1=46078384;refseq.start_2=46079460;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr19 46079487 . A G 125.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=14;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=68.81;MQ0=8;OQ=437.05;QD=19.00;RankSumP=1.00000;SB=-83.37;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.190T>C;refseq.codonCoord_2=64;refseq.end_1=46079755;refseq.end_2=46079487;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=732;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_030589;refseq.name_2=NM_000764;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C64R;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=46078384;refseq.start_2=46079487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=filterInsoap-gatk GT 1/1 chr19 46079496 rs10425176 A T 193.70 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=66.74;MQ0=8;OQ=393.23;QD=15.73;SB=-125.95;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.181T>A;refseq.codonCoord_2=61;refseq.end_1=46079755;refseq.end_2=46079496;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=723;refseq.name2_1=CYP2A7;refseq.name2_2=CYP2A7;refseq.name_1=NM_030589;refseq.name_2=NM_000764;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F61I;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=46078384;refseq.start_2=46079496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=gatk GT:AD:DP:GL:GQ 1/1:0,25:11:-42.91,-3.31,-0.00:33.11 chr19 46287798 rs3815711 C T 2.99 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=88.55;MQ0=1;OQ=624.93;QD=8.56;SB=-260.65;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.350C>T;refseq.codonCoord=117;refseq.end=46287798;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_000766;refseq.name2=CYP2A13;refseq.positionType=CDS;refseq.proteinCoordStr=p.A117V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=46287798;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=gatk GT:AD:DP:GL:GQ 0/1:47,24:60:-83.85,-18.07,-153.26:99 chr19 46313946 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.250000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.13A>G;refseq.codonCoord=5;refseq.end=46313946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=69;refseq.name=NM_000774;refseq.name2=CYP2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S5G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=24;refseq.start=46313946;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr19 46313947 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.200000;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.14G>C;refseq.codonCoord=5;refseq.end=46313947;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=70;refseq.name=NM_000774;refseq.name2=CYP2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S5T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=25;refseq.start=46313947;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr19 46314029 . G A 423.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.01;MQ0=0;OQ=4528.25;QD=41.93;RankSumP=1.00000;SB=-1566.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=46314029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=152;refseq.name=NM_000774;refseq.name2=CYP2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P32P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-76;refseq.start=46314029;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 46319708 . G A 126.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=26.87;MQ0=47;OQ=8068.80;QD=32.80;RankSumP=1.00000;SB=-2421.60;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.652G>A;refseq.codonCoord=218;refseq.end=46319708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_000774;refseq.name2=CYP2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D218N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=46319708;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr19 46319782 . A G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.722222;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.726A>G;refseq.codonCoord=242;refseq.end=46319782;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_000774;refseq.name2=CYP2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R242R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=81;refseq.start=46319782;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr19 46392333 . G C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=2;HaplotypeScore=14.26;MQ=98.37;MQ0=0;OQ=6533.19;QD=47.00;RankSumP=1.00000;SB=-2978.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.222G>C;refseq.codonCoord=74;refseq.end=46392333;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=277;refseq.name=NM_030622;refseq.name2=CYP2S1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P74P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=45;refseq.start=46392333;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 46435701 . A G 353.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.74;MQ0=0;OQ=1936.32;QD=40.34;RankSumP=1.00000;SB=-466.52;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.796A>G;refseq.codingCoordStr_2=c.796A>G;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.end_1=46435701;refseq.end_2=46435701;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=986;refseq.mrnaCoord_2=986;refseq.name2_1=AXL;refseq.name2_2=AXL;refseq.name_1=NM_001699;refseq.name_2=NM_021913;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N266D;refseq.proteinCoordStr_2=p.N266D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=46435701;refseq.start_2=46435701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr19 46450702 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1889A>C;refseq.codingCoordStr_2=c.1916A>C;refseq.codonCoord_1=630;refseq.codonCoord_2=639;refseq.end_1=46450702;refseq.end_2=46450702;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2079;refseq.mrnaCoord_2=2106;refseq.name2_1=AXL;refseq.name2_2=AXL;refseq.name_1=NM_001699;refseq.name_2=NM_021913;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D630A;refseq.proteinCoordStr_2=p.D639A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=46450702;refseq.start_2=46450702;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr19 46476894 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.859T>G;refseq.codingCoordStr_2=c.559T>G;refseq.codonCoord_1=287;refseq.codonCoord_2=187;refseq.end_1=46476894;refseq.end_2=46476894;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1148;refseq.mrnaCoord_2=661;refseq.name2_1=HNRNPUL1;refseq.name2_2=HNRNPUL1;refseq.name_1=NM_007040;refseq.name_2=NM_144732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S287A;refseq.proteinCoordStr_2=p.S187A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=46476894;refseq.start_2=46476894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr19 46503570 . T C 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=96.12;MQ0=0;OQ=402.66;QD=28.76;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2412T>C;refseq.codingCoordStr_2=c.2112T>C;refseq.codonCoord_1=804;refseq.codonCoord_2=704;refseq.end_1=46503570;refseq.end_2=46503570;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2701;refseq.mrnaCoord_2=2214;refseq.name2_1=HNRNPUL1;refseq.name2_2=HNRNPUL1;refseq.name_1=NM_007040;refseq.name_2=NM_144732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T804T;refseq.proteinCoordStr_2=p.T704T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=46503570;refseq.start_2=46503570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr19 46550761 . G A 41.13 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=89.16;MQ0=0;QD=10.28;RankSumP=0.400000;SB=-43.66;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.29C>T;refseq.codonCoord=10;refseq.end=46550761;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_000660;refseq.name2=TGFB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P10L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-327;refseq.start=46550761;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr19 46561232 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=185;Dels=0.00;HRun=4;HaplotypeScore=10.93;MQ=98.18;MQ0=0;OQ=7005.58;QD=37.87;RankSumP=1.00000;SB=-2294.59;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.33A>G;refseq.codonCoord=11;refseq.end=46561232;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_030578;refseq.name2=B9D2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I11M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=37;refseq.start=46561232;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr19 46581588 . T C 171.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=5.40;MQ=98.59;MQ0=0;OQ=2326.62;QD=33.24;RankSumP=1.00000;SB=-1118.65;SecondBestBaseQ=0;refseq.changesAA_6=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.codingCoordStr_5=c.*223T>C;refseq.codingCoordStr_6=c.489T>C;refseq.codonCoord_6=163;refseq.end_1=46581597;refseq.end_2=46581597;refseq.end_3=46581608;refseq.end_4=46581620;refseq.end_5=46581588;refseq.end_6=46581588;refseq.frame_6=2;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.mrnaCoord_5=732;refseq.mrnaCoord_6=840;refseq.name2_1=TMEM91;refseq.name2_2=TMEM91;refseq.name2_3=TMEM91;refseq.name2_4=TMEM91;refseq.name2_5=TMEM91;refseq.name2_6=TMEM91;refseq.name_1=NM_001098822;refseq.name_2=NM_001098825;refseq.name_3=NM_001098823;refseq.name_4=NM_001098824;refseq.name_5=NM_001042595;refseq.name_6=NM_001098821;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.proteinCoordStr_6=p.A163A;refseq.referenceAA_6=Ala;refseq.referenceCodon_6=GCT;refseq.spliceDist_5=-240;refseq.spliceDist_6=129;refseq.start_1=46580677;refseq.start_2=46580677;refseq.start_3=46580677;refseq.start_4=46580677;refseq.start_5=46581588;refseq.start_6=46581588;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_6=Ala;refseq.variantCodon_6=GCC;set=Intersection GT 1/1 chr19 46595060 . G A 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=0;HaplotypeScore=19.08;MQ=98.50;MQ0=0;OQ=18768.37;QD=38.70;RankSumP=1.00000;SB=-8354.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.14C>T;refseq.codonCoord=5;refseq.end=46595060;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=37;refseq.name=NM_020158;refseq.name2=EXOSC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T5M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=37;refseq.start=46595060;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr19 46608756 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.68367e-09;SecondBestBaseQ=15;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.375+2;refseq.codingCoordStr_2=c.375+2;refseq.end_1=46608756;refseq.end_2=46608756;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=BCKDHA;refseq.name2_2=BCKDHA;refseq.name_1=NM_000709;refseq.name_2=NM_001164783;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=46608756;refseq.start_2=46608756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr19 46611870 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.21;MQ0=0;OQ=796.45;QD=14.75;RankSumP=0.578676;SB=-388.90;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.452C>T;refseq.codingCoordStr_2=c.452C>T;refseq.codonCoord_1=151;refseq.codonCoord_2=151;refseq.end_1=46611870;refseq.end_2=46611870;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=BCKDHA;refseq.name2_2=BCKDHA;refseq.name_1=NM_000709;refseq.name_2=NM_001164783;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T151M;refseq.proteinCoordStr_2=p.T151M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=46611870;refseq.start_2=46611870;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr19 46620492 . C T 103.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=6.03;MQ=96.94;MQ0=0;OQ=3387.25;QD=33.87;RankSumP=1.00000;SB=-1322.33;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.972C>T;refseq.codingCoordStr_2=c.969C>T;refseq.codonCoord_1=324;refseq.codonCoord_2=323;refseq.end_1=46620492;refseq.end_2=46620492;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1011;refseq.mrnaCoord_2=1008;refseq.name2_1=BCKDHA;refseq.name2_2=BCKDHA;refseq.name_1=NM_000709;refseq.name_2=NM_001164783;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F324F;refseq.proteinCoordStr_2=p.F323F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=46620492;refseq.start_2=46620492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr19 46622236 . A G 405.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.73;MQ0=0;OQ=3568.01;QD=37.17;RankSumP=1.00000;SB=-1427.72;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1221A>G;refseq.codingCoordStr_2=c.1218A>G;refseq.codonCoord_1=407;refseq.codonCoord_2=406;refseq.end_1=46622236;refseq.end_2=46622236;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1257;refseq.name2_1=BCKDHA;refseq.name2_2=BCKDHA;refseq.name_1=NM_000709;refseq.name_2=NM_001164783;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L407L;refseq.proteinCoordStr_2=p.L406L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=46622236;refseq.start_2=46622236;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr19 46623924 . G T 328.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.38;MQ0=0;OQ=4439.52;QD=35.23;RankSumP=1.00000;SB=-553.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.600C>A;refseq.codonCoord=200;refseq.end=46623924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1054;refseq.name=NM_198540;refseq.name2=B3GNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.A200A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=632;refseq.start=46623924;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 46623960 . C T 211.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=8.87;MQ=98.67;MQ0=0;OQ=9652.24;QD=34.85;RankSumP=1.00000;SB=-1680.59;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.564G>A;refseq.codonCoord=188;refseq.end=46623960;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_198540;refseq.name2=B3GNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V188V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=596;refseq.start=46623960;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr19 46624115 . T C 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=225;Dels=0.00;HRun=1;HaplotypeScore=29.92;MQ=97.84;MQ0=0;OQ=5271.12;QD=23.43;RankSumP=1.00000;SB=-2490.58;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.409A>G;refseq.codonCoord=137;refseq.end=46624115;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_198540;refseq.name2=B3GNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S137G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=441;refseq.start=46624115;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr19 46624452 . C T 332.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=2.53;MQ=98.58;MQ0=0;OQ=3763.48;QD=38.80;RankSumP=1.00000;SB=-1640.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.72G>A;refseq.codonCoord=24;refseq.end=46624452;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_198540;refseq.name2=B3GNT8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E24E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=104;refseq.start=46624452;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 46824154 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=281;Dels=0.00;HRun=2;HaplotypeScore=13.05;MQ=98.54;MQ0=0;OQ=5209.09;QD=18.54;RankSumP=0.0129066;SB=-1265.38;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.85C>G;refseq.codonCoord=29;refseq.end=46824154;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_001817;refseq.name2=CEACAM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H29D;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=21;refseq.start=46824154;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 46882699 . A T 137.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=457;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=98.68;MQ0=0;OQ=17697.90;QD=38.73;RankSumP=1.00000;SB=-6416.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.358T>A;refseq.codonCoord=120;refseq.end=46882699;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=360;refseq.name=NM_006890;refseq.name2=CEACAM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.F120I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-70;refseq.start=46882699;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr19 46882862 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.195C>A;refseq.codonCoord=65;refseq.end=46882862;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_006890;refseq.name2=CEACAM7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y65*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=131;refseq.start=46882862;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr19 46905584 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=594;Dels=0.00;HRun=0;HaplotypeScore=14.46;MQ=60.19;MQ0=153;OQ=4537.25;QD=7.64;RankSumP=0.00839132;SB=-697.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.210T>C;refseq.codonCoord=70;refseq.end=46905584;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=331;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=146;refseq.start=46905584;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=filterInsoap-gatk GT 1/0 chr19 46905612 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=552;Dels=0.00;HRun=0;HaplotypeScore=22.79;MQ=65.45;MQ0=109;OQ=4880.40;QD=8.84;RankSumP=0.195062;SB=-1572.08;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.238A>G;refseq.codonCoord=80;refseq.end=46905612;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=359;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I80V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=174;refseq.start=46905612;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr19 46905622 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=594;Dels=0.00;HRun=0;HaplotypeScore=10.69;MQ=64.42;MQ0=107;OQ=5885.26;QD=9.91;RankSumP=0.426541;SB=-1654.30;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.248T>C;refseq.codonCoord=83;refseq.end=46905622;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V83A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-177;refseq.start=46905622;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 46905708 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=950;Dels=0.00;HRun=0;HaplotypeScore=11.52;MQ=76.15;MQ0=179;OQ=8303.68;QD=8.74;RankSumP=0.434522;SB=-276.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.334A>G;refseq.codonCoord=112;refseq.end=46905708;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I112V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-91;refseq.start=46905708;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 46905712 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=929;Dels=0.00;HRun=2;HaplotypeScore=12.37;MQ=77.25;MQ0=167;OQ=9013.82;QD=9.70;RankSumP=0.222496;SB=-246.01;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.338T>C;refseq.codonCoord=113;refseq.end=46905712;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=459;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I113T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-87;refseq.start=46905712;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 46913447 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=703;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=98.25;MQ0=0;OQ=27099.88;QD=38.55;RankSumP=1.00000;SB=-12560.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1192A>G;refseq.codonCoord=398;refseq.end=46913447;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1313;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K398E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-46;refseq.start=46913447;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 46916750 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1840T>C;refseq.codonCoord=614;refseq.end=46916750;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1961;refseq.name=NM_004363;refseq.name2=CEACAM5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S614P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=69;refseq.start=46916750;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 46952409 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=658;Dels=0.00;HRun=0;HaplotypeScore=33.08;MQ=79.45;MQ0=58;OQ=10545.73;QD=16.03;RankSumP=0.00635582;SB=-4054.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.126G>A;refseq.codonCoord=42;refseq.end=46952409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=275;refseq.name=NM_002483;refseq.name2=CEACAM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P42P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=62;refseq.start=46952409;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/0 chr19 46957040 . C T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0514598;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.468C>T;refseq.codonCoord=156;refseq.end=46957040;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_002483;refseq.name2=CEACAM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P156P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=44;refseq.start=46957040;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr19 46957729 . G T 360.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=98.36;MQ0=0;OQ=6177.00;QD=17.85;RankSumP=0.220861;SB=-1913.05;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.716G>T;refseq.codonCoord=239;refseq.end=46957729;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=865;refseq.name=NM_002483;refseq.name2=CEACAM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G239V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=13;refseq.start=46957729;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 47004773 . G A 200.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.62;MQ0=0;OQ=1986.23;QD=14.50;RankSumP=0.170479;SB=-640.69;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.507G>A;refseq.codonCoord=169;refseq.end=47004773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_001815;refseq.name2=CEACAM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A169A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-36;refseq.start=47004773;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 47007111 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.755C>T;refseq.codonCoord=252;refseq.end=47007111;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_001815;refseq.name2=CEACAM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S252F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=62;refseq.start=47007111;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr19 47034159 . A G 115.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=210.09;QD=15.01;RankSumP=0.657051;SB=-46.95;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=47034159;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_173506;refseq.name2=LYPD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V76V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=17;refseq.start=47034159;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 47046469 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=3;HaplotypeScore=5.20;MQ=96.70;MQ0=0;OQ=624.89;QD=10.59;RankSumP=0.119089;SB=-223.57;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=47046469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=935;refseq.name=NM_001040283;refseq.name2=DMRTC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G284G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=36;refseq.start=47046469;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 47084679 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.128A>C;refseq.codingCoordStr_2=c.128A>C;refseq.codingCoordStr_3=c.173A>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.codonCoord_3=58;refseq.end_1=47084679;refseq.end_2=47084679;refseq.end_3=47084679;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=237;refseq.mrnaCoord_2=237;refseq.mrnaCoord_3=262;refseq.name2_1=ARHGEF1;refseq.name2_2=ARHGEF1;refseq.name2_3=ARHGEF1;refseq.name_1=NM_004706;refseq.name_2=NM_198977;refseq.name_3=NM_199002;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N43T;refseq.proteinCoordStr_2=p.N43T;refseq.proteinCoordStr_3=p.N58T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=47084679;refseq.start_2=47084679;refseq.start_3=47084679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr19 47098310 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1461C>A;refseq.codingCoordStr_2=c.1362C>A;refseq.codingCoordStr_3=c.1506C>A;refseq.codonCoord_1=487;refseq.codonCoord_2=454;refseq.codonCoord_3=502;refseq.end_1=47098310;refseq.end_2=47098310;refseq.end_3=47098310;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1570;refseq.mrnaCoord_2=1471;refseq.mrnaCoord_3=1595;refseq.name2_1=ARHGEF1;refseq.name2_2=ARHGEF1;refseq.name2_3=ARHGEF1;refseq.name_1=NM_004706;refseq.name_2=NM_198977;refseq.name_3=NM_199002;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y487*;refseq.proteinCoordStr_2=p.Y454*;refseq.proteinCoordStr_3=p.Y502*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=47098310;refseq.start_2=47098310;refseq.start_3=47098310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;set=FilteredInAll GT 1/0 chr19 47164877 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2719A>C;refseq.codonCoord=907;refseq.end=47164877;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2873;refseq.name=NM_152296;refseq.name2=ATP1A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T907P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=31;refseq.start=47164877;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 47171773 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=1.17852e-09;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2111T>G;refseq.codonCoord=704;refseq.end=47171773;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2265;refseq.name=NM_152296;refseq.name2=ATP1A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V704G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=17;refseq.start=47171773;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 47181356 . A C 320.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.61;MQ0=0;OQ=4782.67;QD=34.41;RankSumP=1.00000;SB=-2174.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.666T>G;refseq.codonCoord=222;refseq.end=47181356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=820;refseq.name=NM_152296;refseq.name2=ATP1A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T222T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-59;refseq.start=47181356;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 47274965 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.367A>C;refseq.codonCoord=123;refseq.end=47274965;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_022752;refseq.name2=ZNF574;refseq.positionType=CDS;refseq.proteinCoordStr=p.T123P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=387;refseq.start=47274965;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 47275134 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.536T>G;refseq.codonCoord=179;refseq.end=47275134;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_022752;refseq.name2=ZNF574;refseq.positionType=CDS;refseq.proteinCoordStr=p.V179G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=556;refseq.start=47275134;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 47276073 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1475A>G;refseq.codonCoord=492;refseq.end=47276073;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1644;refseq.name=NM_022752;refseq.name2=ZNF574;refseq.positionType=CDS;refseq.proteinCoordStr=p.E492G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-1488;refseq.start=47276073;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 47288084 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=9.95048e-06;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1329G>T;refseq.codonCoord=443;refseq.end=47288084;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1396;refseq.name=NM_002698;refseq.name2=POU2F2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L443F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-24;refseq.start=47288084;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr19 47422307 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1912T>C;refseq.codonCoord=638;refseq.end=47422307;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2068;refseq.name=NM_133444;refseq.name2=ZNF526;refseq.positionType=CDS;refseq.proteinCoordStr=p.S638P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-1887;refseq.start=47422307;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 47428107 . A G 449.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.58;MQ0=0;OQ=5776.76;QD=41.86;RankSumP=1.00000;SB=-2584.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1320T>C;refseq.codonCoord=440;refseq.end=47428107;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1439;refseq.name=NM_019884;refseq.name2=GSK3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L440L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=35;refseq.start=47428107;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr19 47436108 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.310G>T;refseq.codonCoord=104;refseq.end=47436108;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_019884;refseq.name2=GSK3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V104L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=27;refseq.start=47436108;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr19 47445688 . C A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.500026;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.416G>T;refseq.codonCoord=139;refseq.end=47445688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=574;refseq.name=NM_006494;refseq.name2=ERF;refseq.positionType=CDS;refseq.proteinCoordStr=p.G139V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=43;refseq.start=47445688;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr19 47446381 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.199T>G;refseq.codonCoord=67;refseq.end=47446381;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_006494;refseq.name2=ERF;refseq.positionType=CDS;refseq.proteinCoordStr=p.W67G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-59;refseq.start=47446381;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 47483834 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.42;MQ0=0;OQ=618.99;QD=25.79;RankSumP=0.304397;SB=-268.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.798T>C;refseq.codonCoord=266;refseq.end=47483834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D266D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=33;refseq.start=47483834;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 47487028 . G C 41 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.000226106;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2268G>C;refseq.codonCoord=756;refseq.end=47487028;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2308;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A756A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-431;refseq.start=47487028;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 47487666 . G C 26 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=1.30675e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2815G>C;refseq.codonCoord=939;refseq.end=47487666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2855;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G939R;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-72;refseq.start=47487666;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chr19 47487667 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2816G>C;refseq.codonCoord=939;refseq.end=47487667;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2856;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.G939A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-71;refseq.start=47487667;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 47488625 . G C 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=1.50951e-05;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3243G>C;refseq.codonCoord=1081;refseq.end=47488625;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3283;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1081P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=68;refseq.start=47488625;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 47491070 . G C 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=4;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4714G>C;refseq.codonCoord=1572;refseq.end=47491070;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4754;refseq.name=NM_015125;refseq.name2=CIC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1572P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=255;refseq.start=47491070;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/1 chr19 47597864 . G A 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=167.52;QD=27.92;RankSumP=1.00000;SB=-86.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3171C>T;refseq.codonCoord=1057;refseq.end=47597864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3448;refseq.name=NM_005357;refseq.name2=LIPE;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1057A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=204;refseq.start=47597864;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/1 chr19 47606505 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1213A>C;refseq.codonCoord=405;refseq.end=47606505;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1490;refseq.name=NM_005357;refseq.name2=LIPE;refseq.positionType=CDS;refseq.proteinCoordStr=p.T405P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-207;refseq.start=47606505;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 47723158 . G A 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.124185;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.299C>T;refseq.codingCoordStr_2=c.299C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=47723158;refseq.end_2=47723158;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=412;refseq.mrnaCoord_2=412;refseq.name2_1=CEACAM1;refseq.name2_2=CEACAM1;refseq.name_1=NM_001024912;refseq.name_2=NM_001712;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T100I;refseq.proteinCoordStr_2=p.T100I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.start_1=47723158;refseq.start_2=47723158;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=soap GT 1/0 chr19 47723247 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=664;Dels=0.00;HRun=0;HaplotypeScore=16.28;MQ=79.32;MQ0=37;QD=0.03;RankSumP=0.165003;SB=477.98;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.210G>C;refseq.codingCoordStr_2=c.210G>C;refseq.codonCoord_1=70;refseq.codonCoord_2=70;refseq.end_1=47723247;refseq.end_2=47723247;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=323;refseq.mrnaCoord_2=323;refseq.name2_1=CEACAM1;refseq.name2_2=CEACAM1;refseq.name_1=NM_001024912;refseq.name_2=NM_001712;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G70G;refseq.proteinCoordStr_2=p.G70G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=146;refseq.spliceDist_2=146;refseq.start_1=47723247;refseq.start_2=47723247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=soap-filterIngatk GT 1/0 chr19 47723274 . T A 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.140646;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.183A>T;refseq.codingCoordStr_2=c.183A>T;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=47723274;refseq.end_2=47723274;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=296;refseq.mrnaCoord_2=296;refseq.name2_1=CEACAM1;refseq.name2_2=CEACAM1;refseq.name_1=NM_001024912;refseq.name_2=NM_001712;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q61H;refseq.proteinCoordStr_2=p.Q61H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=119;refseq.spliceDist_2=119;refseq.start_1=47723274;refseq.start_2=47723274;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap GT 1/0 chr19 47926023 . G T 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.396568;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.735C>A;refseq.codonCoord=245;refseq.end=47926023;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_021016;refseq.name2=PSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=26;refseq.start=47926023;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 0/1 chr19 47935057 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=563;Dels=0.00;HRun=0;HaplotypeScore=27.93;MQ=77.44;MQ0=51;OQ=4718.63;QD=8.38;RankSumP=0.0564201;SB=-658.35;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.89T>C;refseq.codonCoord=30;refseq.end=47935057;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=221;refseq.name=NM_021016;refseq.name2=PSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=25;refseq.start=47935057;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 47935058 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=553;Dels=0.00;HRun=1;HaplotypeScore=28.92;MQ=77.04;MQ0=51;OQ=4831.59;QD=8.74;RankSumP=0.133769;SB=-911.44;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.88T>C;refseq.codonCoord=30;refseq.end=47935058;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_021016;refseq.name2=PSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=24;refseq.start=47935058;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 47935078 rs11559136 A G 5.05 PASS AC=1;AF=0.50;AN=2;DB;DP=501;Dels=0.00;HRun=0;HaplotypeScore=19.43;MQ=73.41;MQ0=50;OQ=4548.89;QD=9.08;SB=-954.63;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.68T>C;refseq.codonCoord=23;refseq.end=47935078;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_021016;refseq.name2=PSG3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=47935078;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=gatk GT:AD:DP:GL:GQ 0/1:351,150:390:-453.89,-117.46,-1171.36:99 chr19 48064226 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=26.09;MQ=74.86;MQ0=84;OQ=8115.60;QD=13.44;RankSumP=0.0969616;SB=-1396.58;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1110A>G;refseq.codonCoord=370;refseq.end=48064226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E370E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=122;refseq.start=48064226;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr19 48064781 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=533;Dels=0.00;HRun=0;HaplotypeScore=15.18;MQ=14.64;MQ0=486;OQ=656.44;QD=1.23;RankSumP=0.392974;SB=-78.32;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.955A>G;refseq.codonCoord=319;refseq.end=48064781;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I319V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-34;refseq.start=48064781;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 48064960 . T G 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.159345;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.776A>C;refseq.codonCoord=259;refseq.end=48064960;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N259T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=67;refseq.start=48064960;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr19 48065001 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.449659;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.735C>A;refseq.codonCoord=245;refseq.end=48065001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=26;refseq.start=48065001;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 0/1 chr19 48074208 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=671;Dels=0.00;HRun=2;HaplotypeScore=17.43;MQ=43.62;MQ0=191;OQ=676.12;QD=1.01;RankSumP=0.352229;SB=-254.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.127A>C;refseq.codonCoord=43;refseq.end=48074208;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T43P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=63;refseq.start=48074208;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 48074214 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=658;Dels=0.00;HRun=2;HaplotypeScore=15.91;MQ=44.79;MQ0=199;OQ=757.96;QD=1.15;RankSumP=0.325176;SB=210.59;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.121G>C;refseq.codonCoord=41;refseq.end=48074214;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E41Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=57;refseq.start=48074214;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 48075520 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=701;Dels=0.00;HRun=0;HaplotypeScore=39.45;MQ=84.59;MQ0=62;OQ=11629.45;QD=16.59;RankSumP=0.135017;SB=-2826.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.54C>A;refseq.codonCoord=18;refseq.end=48075520;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_006905;refseq.name2=PSG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L18L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-11;refseq.start=48075520;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr19 48112291 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1293;Dels=0.00;HRun=0;HaplotypeScore=28.00;MQ=93.90;MQ0=3;OQ=31221.69;QD=24.15;RankSumP=0.449025;SB=-10393.54;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.253C>G;refseq.codingCoordStr_2=c.253C>G;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=48112291;refseq.end_2=48112291;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=352;refseq.mrnaCoord_2=298;refseq.name2_1=PSG6;refseq.name2_2=PSG6;refseq.name_1=NM_001031850;refseq.name_2=NM_002782;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H85D;refseq.proteinCoordStr_2=p.H85D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-175;refseq.spliceDist_2=-175;refseq.start_1=48112291;refseq.start_2=48112291;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr19 48271482 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=755;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=85.97;MQ0=3;OQ=30883.49;QD=40.91;RankSumP=1.00000;SB=-14667.98;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.573T>C;refseq.codonCoord=191;refseq.end=48271482;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=666;refseq.name=NM_031246;refseq.name2=PSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H191H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-137;refseq.start=48271482;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 48277174 . T G 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=908;Dels=0.00;HRun=2;HaplotypeScore=35.42;MQ=26.24;MQ0=385;OQ=1213.61;QD=1.34;RankSumP=0.389761;SB=-456.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.129A>C;refseq.codonCoord=43;refseq.end=48277174;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_031246;refseq.name2=PSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P43P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=65;refseq.start=48277174;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/0 chr19 48278504 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=21.53;MQ=28.40;MQ0=241;OQ=5417.76;QD=13.86;RankSumP=1.00000;SB=-1163.11;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.58G>C;refseq.codonCoord=20;refseq.end=48278504;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=151;refseq.name=NM_031246;refseq.name2=PSG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V20L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=48278504;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr19 48371250 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=482;Dels=0.00;HRun=1;HaplotypeScore=9.79;MQ=24.69;MQ0=333;OQ=3946.58;QD=8.19;RankSumP=1.00000;SB=-557.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.921T>C;refseq.codingCoordStr_2=c.921T>C;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.end_1=48371250;refseq.end_2=48371250;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1052;refseq.mrnaCoord_2=1052;refseq.name2_1=PSG5;refseq.name2_2=PSG5;refseq.name_1=NM_001130014;refseq.name_2=NM_002781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A307A;refseq.proteinCoordStr_2=p.A307A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=48371250;refseq.start_2=48371250;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr19 48371891 . C T 183.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=438;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=60.72;MQ0=47;OQ=15256.29;QD=34.83;RankSumP=1.00000;SB=-6644.36;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.680G>A;refseq.codingCoordStr_2=c.680G>A;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.end_1=48371891;refseq.end_2=48371891;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=811;refseq.mrnaCoord_2=811;refseq.name2_1=PSG5;refseq.name2_2=PSG5;refseq.name_1=NM_001130014;refseq.name_2=NM_002781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R227H;refseq.proteinCoordStr_2=p.R227H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=48371891;refseq.start_2=48371891;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 48371987 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1334;Dels=0.00;HRun=1;HaplotypeScore=24.82;MQ=12.78;MQ0=1299;OQ=544.19;QD=0.41;RankSumP=0.472274;SB=-125.62;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.584G>A;refseq.codingCoordStr_2=c.584G>A;refseq.codonCoord_1=195;refseq.codonCoord_2=195;refseq.end_1=48371987;refseq.end_2=48371987;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=715;refseq.mrnaCoord_2=715;refseq.name2_1=PSG5;refseq.name2_2=PSG5;refseq.name_1=NM_001130014;refseq.name_2=NM_002781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R195Q;refseq.proteinCoordStr_2=p.R195Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.start_1=48371987;refseq.start_2=48371987;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr19 48380844 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1306;Dels=0.00;HRun=0;HaplotypeScore=36.66;MQ=54.30;MQ0=3;OQ=27030.49;QD=20.70;RankSumP=0.200043;SB=-9229.91;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.360C>T;refseq.codingCoordStr_2=c.360C>T;refseq.codonCoord_1=120;refseq.codonCoord_2=120;refseq.end_1=48380844;refseq.end_2=48380844;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=491;refseq.name2_1=PSG5;refseq.name2_2=PSG5;refseq.name_1=NM_001130014;refseq.name_2=NM_002781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y120Y;refseq.proteinCoordStr_2=p.Y120Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.start_1=48380844;refseq.start_2=48380844;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr19 48382346 . G C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=511;Dels=0.00;HRun=4;HaplotypeScore=13.05;MQ=73.66;MQ0=139;OQ=15124.10;QD=29.60;RankSumP=1.00000;SB=-3508.83;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.52C>G;refseq.codingCoordStr_2=c.52C>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=48382346;refseq.end_2=48382346;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=183;refseq.mrnaCoord_2=183;refseq.name2_1=PSG5;refseq.name2_2=PSG5;refseq.name_1=NM_001130014;refseq.name_2=NM_002781;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L18V;refseq.proteinCoordStr_2=p.L18V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=48382346;refseq.start_2=48382346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr19 48389374 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.615327;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1250T>C;refseq.codingCoordStr_2=c.971T>C;refseq.codonCoord_1=417;refseq.codonCoord_2=324;refseq.end_1=48389374;refseq.end_2=48389374;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1352;refseq.mrnaCoord_2=1073;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I417T;refseq.proteinCoordStr_2=p.I324T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=48389374;refseq.start_2=48389374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=soap GT 0/1 chr19 48394179 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.519T>C;refseq.codingCoordStr_2=c.519T>C;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.end_1=48394179;refseq.end_2=48394179;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=621;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T173T;refseq.proteinCoordStr_2=p.T173T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=89;refseq.spliceDist_2=89;refseq.start_1=48394179;refseq.start_2=48394179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr19 48394182 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=512;Dels=0.00;HRun=1;HaplotypeScore=46.78;MQ=92.46;MQ0=1;OQ=9126.29;QD=17.82;RankSumP=0.129926;SB=-3097.53;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.516G>A;refseq.codingCoordStr_2=c.516G>A;refseq.codonCoord_1=172;refseq.codonCoord_2=172;refseq.end_1=48394182;refseq.end_2=48394182;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=618;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A172A;refseq.proteinCoordStr_2=p.A172A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=48394182;refseq.start_2=48394182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr19 48401487 . G A 10547.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=14;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=8.87;MQ=69.28;MQ0=54;QD=30.39;RankSumP=1.00000;SB=-3283.29;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.42C>T;refseq.codingCoordStr_2=c.42C>T;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=48401487;refseq.end_2=48401487;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=144;refseq.mrnaCoord_2=144;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T14T;refseq.proteinCoordStr_2=p.T14T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=48401487;refseq.start_2=48401487;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=soap-filterIngatk GT 1/1 chr19 48401494 . C A 9945.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=9.34;MQ=69.93;MQ0=53;QD=27.94;RankSumP=1.00000;SB=-3437.47;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.35G>T;refseq.codingCoordStr_2=c.35G>T;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=48401494;refseq.end_2=48401494;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=137;refseq.mrnaCoord_2=137;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R12L;refseq.proteinCoordStr_2=p.R12L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=48401494;refseq.start_2=48401494;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=soap-filterIngatk GT 1/1 chr19 48401496 . C G 12694.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=360;Dels=0.00;HRun=1;HaplotypeScore=8.52;MQ=69.48;MQ0=56;QD=35.26;RankSumP=1.00000;SB=-3844.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.33G>C;refseq.codingCoordStr_2=c.33G>C;refseq.codonCoord_1=11;refseq.codonCoord_2=11;refseq.end_1=48401496;refseq.end_2=48401496;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=135;refseq.mrnaCoord_2=135;refseq.name2_1=PSG4;refseq.name2_2=PSG4;refseq.name_1=NM_002780;refseq.name_2=NM_213633;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q11H;refseq.proteinCoordStr_2=p.Q11H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=48401496;refseq.start_2=48401496;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=soap-filterIngatk GT 1/1 chr19 48613901 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=985;Dels=0.00;HRun=0;HaplotypeScore=19.39;MQ=98.67;MQ0=0;OQ=18692.93;QD=18.98;RankSumP=0.259241;SB=-7276.25;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.423A>G;refseq.codingCoordStr_2=c.477A>G;refseq.codonCoord_1=141;refseq.codonCoord_2=159;refseq.end_1=48613901;refseq.end_2=48613901;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=1038;refseq.name2_1=TEX101;refseq.name2_2=TEX101;refseq.name_1=NM_001130011;refseq.name_2=NM_031451;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P141P;refseq.proteinCoordStr_2=p.P159P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=48613901;refseq.start_2=48613901;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 0/1 chr19 48739390 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=320;Dels=0.00;HRun=1;HaplotypeScore=23.17;MQ=97.50;MQ0=0;OQ=4890.45;QD=15.28;RankSumP=0.483389;SB=-1279.92;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1896A>G;refseq.codonCoord=632;refseq.end=48739390;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2016;refseq.name=NM_006297;refseq.name2=XRCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q632Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-87;refseq.start=48739390;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 48739666 . T A 275.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=98.72;MQ0=0;OQ=7433.85;QD=38.72;RankSumP=1.00000;SB=-2882.90;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1726A>T;refseq.codonCoord=576;refseq.end=48739666;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1846;refseq.name=NM_006297;refseq.name2=XRCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N576Y;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=14;refseq.start=48739666;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr19 48747566 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=26.42;MQ=97.92;MQ0=0;OQ=1190.67;QD=12.03;RankSumP=0.00384780;SB=-57.87;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1196A>G;refseq.codonCoord=399;refseq.end=48747566;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1316;refseq.name=NM_006297;refseq.name2=XRCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q399R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=48747566;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/0 chr19 48749067 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=401.05;QD=17.44;RankSumP=0.378651;SB=-194.37;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.618A>G;refseq.codonCoord=206;refseq.end=48749067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_006297;refseq.name2=XRCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P206P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=17;refseq.start=48749067;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 48749424 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=98.94;MQ0=0;OQ=6045.39;QD=25.08;RankSumP=0.411239;SB=-2042.76;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.570C>G;refseq.codonCoord=190;refseq.end=48749424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_006297;refseq.name2=XRCC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L190L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-32;refseq.start=48749424;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 48790803 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.08;MQ0=0;OQ=419.52;QD=11.04;RankSumP=0.488761;SB=-31.38;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.528G>C;refseq.codonCoord=176;refseq.end=48790803;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=684;refseq.name=NM_001007561;refseq.name2=IRGQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R176R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=48790803;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr19 48795035 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.298A>C;refseq.codingCoordStr_2=c.298A>C;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=48795035;refseq.end_2=48795035;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=471;refseq.mrnaCoord_2=507;refseq.name2_1=ZNF576;refseq.name2_2=ZNF576;refseq.name_1=NM_001145347;refseq.name_2=NM_024327;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T100P;refseq.proteinCoordStr_2=p.T100P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=213;refseq.spliceDist_2=213;refseq.start_1=48795035;refseq.start_2=48795035;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 48848312 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=4;HaplotypeScore=7.81;MQ=98.83;MQ0=0;OQ=12547.74;QD=40.74;RankSumP=1.00000;SB=-4784.63;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.659A>G;refseq.codingCoordStr_2=c.524A>G;refseq.codingCoordStr_3=c.659A>G;refseq.codonCoord_1=220;refseq.codonCoord_2=175;refseq.codonCoord_3=220;refseq.end_1=48848312;refseq.end_2=48848312;refseq.end_3=48848312;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=754;refseq.mrnaCoord_3=889;refseq.name2_1=PLAUR;refseq.name2_2=PLAUR;refseq.name2_3=PLAUR;refseq.name_1=NM_001005376;refseq.name_2=NM_001005377;refseq.name_3=NM_002659;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K220R;refseq.proteinCoordStr_2=p.K175R;refseq.proteinCoordStr_3=p.K220R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=48848312;refseq.start_2=48848312;refseq.start_3=48848312;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr19 48914953 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=7.48;MQ=97.39;MQ0=0;OQ=417.91;QD=13.93;RankSumP=0.546521;SB=-214.23;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.403G>A;refseq.codonCoord=135;refseq.end=48914953;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_019612;refseq.name2=IRGC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D135N;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=469;refseq.start=48914953;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 48914978 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.64;MQ=97.72;MQ0=0;OQ=242.99;QD=7.84;RankSumP=0.348891;SB=-35.38;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.428G>T;refseq.codonCoord=143;refseq.end=48914978;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_019612;refseq.name2=IRGC;refseq.positionType=CDS;refseq.proteinCoordStr=p.R143L;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=494;refseq.start=48914978;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr19 48970457 . G C 24.44 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=91.76;MQ0=0;QD=1.36;SB=-30.83;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.410C>G;refseq.codonCoord=137;refseq.end=48970457;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=806;refseq.name=NM_002250;refseq.name2=KCNN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S137C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=155;refseq.start=48970457;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:16,2:13:-9.64,-3.91,-53.35:57.26 chr19 48994464 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=506;Dels=0.00;HRun=0;HaplotypeScore=34.58;MQ=96.70;MQ0=0;OQ=8686.89;QD=17.17;RankSumP=0.194256;SB=-2771.43;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.500A>G;refseq.codingCoordStr_2=c.371A>G;refseq.codonCoord_1=167;refseq.codonCoord_2=124;refseq.end_1=48994464;refseq.end_2=48994464;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=581;refseq.mrnaCoord_2=553;refseq.name2_1=LYPD5;refseq.name2_2=LYPD5;refseq.name_1=NM_001031749;refseq.name_2=NM_182573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N167S;refseq.proteinCoordStr_2=p.N124S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=48994464;refseq.start_2=48994464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr19 48994513 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.451T>G;refseq.codingCoordStr_2=c.322T>G;refseq.codonCoord_1=151;refseq.codonCoord_2=108;refseq.end_1=48994513;refseq.end_2=48994513;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=532;refseq.mrnaCoord_2=504;refseq.name2_1=LYPD5;refseq.name2_2=LYPD5;refseq.name_1=NM_001031749;refseq.name_2=NM_182573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S151A;refseq.proteinCoordStr_2=p.S108A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=48994513;refseq.start_2=48994513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr19 48994906 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.48;MQ0=0;OQ=851.95;QD=20.28;RankSumP=0.738232;SB=-81.77;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.268G>C;refseq.codingCoordStr_2=c.139G>C;refseq.codonCoord_1=90;refseq.codonCoord_2=47;refseq.end_1=48994906;refseq.end_2=48994906;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=349;refseq.mrnaCoord_2=321;refseq.name2_1=LYPD5;refseq.name2_2=LYPD5;refseq.name_1=NM_001031749;refseq.name_2=NM_182573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A90P;refseq.proteinCoordStr_2=p.A47P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=75;refseq.spliceDist_2=75;refseq.start_1=48994906;refseq.start_2=48994906;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr19 49109415 . A G 160.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=2;HaplotypeScore=6.79;MQ=98.76;MQ0=0;OQ=5663.27;QD=18.94;RankSumP=0.488139;SB=-2120.34;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2013T>C;refseq.codonCoord=671;refseq.end=49109415;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3104;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.F671F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-799;refseq.start=49109415;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr19 49109917 . C T 168.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=1960.66;QD=19.61;RankSumP=0.478984;SB=-913.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1511G>A;refseq.codonCoord=504;refseq.end=49109917;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2602;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R504K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1276;refseq.start=49109917;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 49110183 . C T 233.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=6.52;MQ=98.89;MQ0=0;OQ=6652.92;QD=18.58;RankSumP=0.309995;SB=-2751.69;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1245G>A;refseq.codonCoord=415;refseq.end=49110183;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2336;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.P415P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1010;refseq.start=49110183;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 49110384 . A G 292.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=6.33;MQ=98.87;MQ0=0;OQ=4617.41;QD=21.99;RankSumP=0.302790;SB=-1386.78;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1044T>C;refseq.codonCoord=348;refseq.end=49110384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2135;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.N348N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=809;refseq.start=49110384;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr19 49110520 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=23.06;MQ=98.50;MQ0=0;OQ=5972.66;QD=23.06;RankSumP=0.129710;SB=-2117.64;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.908C>G;refseq.codonCoord=303;refseq.end=49110520;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1999;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.P303R;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=673;refseq.start=49110520;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr19 49110533 . T C 368.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=296;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.75;MQ0=0;OQ=5507.61;QD=18.61;RankSumP=0.351466;SB=-1765.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.895A>G;refseq.codonCoord=299;refseq.end=49110533;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1986;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.T299A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=660;refseq.start=49110533;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr19 49110664 . C T 131.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=98.75;MQ0=0;OQ=7172.84;QD=18.68;RankSumP=0.463659;SB=-2821.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.764G>A;refseq.codonCoord=255;refseq.end=49110664;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1855;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R255K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=529;refseq.start=49110664;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 49110870 . A G 153.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=483;Dels=0.00;HRun=0;HaplotypeScore=12.41;MQ=98.92;MQ0=0;OQ=18549.91;QD=38.41;RankSumP=1.00000;SB=-5980.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.558T>C;refseq.codonCoord=186;refseq.end=49110870;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1649;refseq.name=NM_003425;refseq.name2=ZNF45;refseq.positionType=CDS;refseq.proteinCoordStr=p.H186H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=323;refseq.start=49110870;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 49160970 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.110T>G;refseq.codonCoord=37;refseq.end=49160970;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.V37G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=49160970;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 49162029 . T A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=20.62;MQ=98.92;MQ0=0;OQ=23610.32;QD=39.48;RankSumP=1.00000;SB=-9630.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.535T>A;refseq.codonCoord=179;refseq.end=49162029;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.F179I;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=234;refseq.start=49162029;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr19 49162260 . T C 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=548;Dels=0.00;HRun=0;HaplotypeScore=23.85;MQ=98.75;MQ0=0;OQ=20632.07;QD=37.65;RankSumP=1.00000;SB=-9579.33;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.766T>C;refseq.codonCoord=256;refseq.end=49162260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.C256R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=465;refseq.start=49162260;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr19 49162388 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=95.96;MQ0=0;OQ=20480.55;QD=40.64;RankSumP=1.00000;SB=-8699.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.894A>G;refseq.codonCoord=298;refseq.end=49162388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1222;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q298Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=593;refseq.start=49162388;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 49162503 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=684;Dels=0.00;HRun=1;HaplotypeScore=18.84;MQ=98.44;MQ0=0;OQ=31701.54;QD=46.35;RankSumP=1.00000;SB=-13723.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1009G>C;refseq.codonCoord=337;refseq.end=49162503;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.A337P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=708;refseq.start=49162503;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 49163049 . T A 329.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=12.56;MQ=98.99;MQ0=0;OQ=6685.39;QD=20.63;RankSumP=0.417050;SB=-2584.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1555T>A;refseq.codonCoord=519;refseq.end=49163049;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1883;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.S519T;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-544;refseq.start=49163049;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr19 49163092 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=17.32;MQ=98.88;MQ0=0;OQ=6441.97;QD=19.88;RankSumP=0.430201;SB=-2559.05;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1598T>C;refseq.codonCoord=533;refseq.end=49163092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1926;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.L533P;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-501;refseq.start=49163092;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr19 49163163 . G A 352.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=98.78;MQ0=0;OQ=4848.63;QD=19.79;RankSumP=2.54390e-06;SB=-1768.03;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1669G>A;refseq.codonCoord=557;refseq.end=49163163;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1997;refseq.name=NM_013359;refseq.name2=ZNF221;refseq.positionType=CDS;refseq.proteinCoordStr=p.G557R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-430;refseq.start=49163163;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/0 chr19 49187568 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.44T>G;refseq.codingCoordStr_2=c.44T>G;refseq.codonCoord_1=15;refseq.codonCoord_2=15;refseq.end_1=49187568;refseq.end_2=49187568;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=249;refseq.mrnaCoord_2=172;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V15G;refseq.proteinCoordStr_2=p.V15G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=49187568;refseq.start_2=49187568;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 49192318 . A T 132.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=419;Dels=0.00;HRun=1;HaplotypeScore=6.15;MQ=98.95;MQ0=0;OQ=17318.08;QD=41.33;RankSumP=1.00000;SB=-7271.44;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.469A>T;refseq.codingCoordStr_2=c.469A>T;refseq.codonCoord_1=157;refseq.codonCoord_2=157;refseq.end_1=49192318;refseq.end_2=49192318;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=674;refseq.mrnaCoord_2=597;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I157F;refseq.proteinCoordStr_2=p.I157F;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=234;refseq.spliceDist_2=234;refseq.start_1=49192318;refseq.start_2=49192318;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/1 chr19 49192601 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=504;Dels=0.00;HRun=0;HaplotypeScore=12.33;MQ=97.27;MQ0=3;OQ=21370.87;QD=42.40;RankSumP=1.00000;SB=-10187.67;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.752G>A;refseq.codingCoordStr_2=c.752G>A;refseq.codonCoord_1=251;refseq.codonCoord_2=251;refseq.end_1=49192601;refseq.end_2=49192601;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=957;refseq.mrnaCoord_2=880;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R251H;refseq.proteinCoordStr_2=p.R251H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=517;refseq.spliceDist_2=517;refseq.start_1=49192601;refseq.start_2=49192601;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr19 49192956 . A G 163.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=408;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=94.43;MQ0=5;OQ=16477.67;QD=40.39;RankSumP=1.00000;SB=-7510.35;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1107A>G;refseq.codingCoordStr_2=c.1107A>G;refseq.codonCoord_1=369;refseq.codonCoord_2=369;refseq.end_1=49192956;refseq.end_2=49192956;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1312;refseq.mrnaCoord_2=1235;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E369E;refseq.proteinCoordStr_2=p.E369E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=872;refseq.spliceDist_2=872;refseq.start_1=49192956;refseq.start_2=49192956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 49193067 . A G 61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=11.57;MQ=97.94;MQ0=0;OQ=11210.94;QD=41.68;RankSumP=1.00000;SB=-5018.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1218A>G;refseq.codingCoordStr_2=c.1218A>G;refseq.codonCoord_1=406;refseq.codonCoord_2=406;refseq.end_1=49193067;refseq.end_2=49193067;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1423;refseq.mrnaCoord_2=1346;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G406G;refseq.proteinCoordStr_2=p.G406G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=983;refseq.spliceDist_2=983;refseq.start_1=49193067;refseq.start_2=49193067;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr19 49193467 . T C 189.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=3718.35;QD=42.74;RankSumP=1.00000;SB=-193.40;SecondBestBaseQ=0;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*1T>C;refseq.codingCoordStr_2=c.*1T>C;refseq.end_1=49193467;refseq.end_2=49193467;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1823;refseq.mrnaCoord_2=1746;refseq.name2_1=ZNF155;refseq.name2_2=ZNF155;refseq.name_1=NM_003445;refseq.name_2=NM_198089;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=-851;refseq.spliceDist_2=-851;refseq.start_1=49193467;refseq.start_2=49193467;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr19 49223043 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.71T>G;refseq.codingCoordStr_2=c.44T>G;refseq.codonCoord_1=24;refseq.codonCoord_2=15;refseq.end_1=49223043;refseq.end_2=49223043;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=166;refseq.mrnaCoord_2=227;refseq.name2_1=ZNF222;refseq.name2_2=ZNF222;refseq.name_1=NM_001129996;refseq.name_2=NM_013360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V24G;refseq.proteinCoordStr_2=p.V15G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=49223043;refseq.start_2=49223043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 49227839 . G T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=167;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=98.71;MQ0=0;OQ=6730.53;QD=40.30;RankSumP=1.00000;SB=-2644.56;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.292G>T;refseq.codingCoordStr_2=c.172G>T;refseq.codonCoord_1=98;refseq.codonCoord_2=58;refseq.end_1=49227839;refseq.end_2=49227839;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=387;refseq.mrnaCoord_2=355;refseq.name2_1=ZNF222;refseq.name2_2=ZNF222;refseq.name_1=NM_001129996;refseq.name_2=NM_013360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V98F;refseq.proteinCoordStr_2=p.V58F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=49227839;refseq.start_2=49227839;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/1 chr19 49256821 . G A 417.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=7022.99;QD=42.82;RankSumP=1.00000;SB=-1947.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.222G>A;refseq.codonCoord=74;refseq.end=49256821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_013361;refseq.name2=ZNF223;refseq.positionType=CDS;refseq.proteinCoordStr=p.R74R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-14;refseq.start=49256821;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/1 chr19 49262233 . C A 263.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.82;MQ0=0;OQ=9905.89;QD=38.85;RankSumP=1.00000;SB=-4278.46;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.412C>A;refseq.codonCoord=138;refseq.end=49262233;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_013361;refseq.name2=ZNF223;refseq.positionType=CDS;refseq.proteinCoordStr=p.L138I;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=177;refseq.start=49262233;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr19 49262391 . G A 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=702;Dels=0.00;HRun=0;HaplotypeScore=22.17;MQ=98.50;MQ0=0;OQ=28977.40;QD=41.28;RankSumP=1.00000;SB=-12415.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.570G>A;refseq.codonCoord=190;refseq.end=49262391;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_013361;refseq.name2=ZNF223;refseq.positionType=CDS;refseq.proteinCoordStr=p.A190A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=335;refseq.start=49262391;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 49262994 . T C 192.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.69;MQ0=0;OQ=10965.32;QD=40.76;RankSumP=1.00000;SB=-5244.41;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1173T>C;refseq.codonCoord=391;refseq.end=49262994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1426;refseq.name=NM_013361;refseq.name2=ZNF223;refseq.positionType=CDS;refseq.proteinCoordStr=p.H391H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=938;refseq.start=49262994;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 49296822 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=49296822;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_013398;refseq.name2=ZNF224;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=49296822;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 49302505 . A G 214.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=1;HaplotypeScore=9.13;MQ=98.88;MQ0=0;OQ=13236.65;QD=40.85;RankSumP=1.00000;SB=-4528.15;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.352A>G;refseq.codonCoord_2=118;refseq.end_1=49302505;refseq.end_2=49302505;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2188;refseq.mrnaCoord_2=669;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M118V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-1172;refseq.spliceDist_2=117;refseq.start_1=49302505;refseq.start_2=49302505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr19 49302638 . A T 237.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=447;Dels=0.00;HRun=0;HaplotypeScore=7.08;MQ=98.69;MQ0=0;OQ=18306.92;QD=40.96;RankSumP=1.00000;SB=-8090.04;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.485A>T;refseq.codonCoord_2=162;refseq.end_1=49302638;refseq.end_2=49302638;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2055;refseq.mrnaCoord_2=802;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H162L;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-1305;refseq.spliceDist_2=250;refseq.start_1=49302638;refseq.start_2=49302638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr19 49302683 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=567;Dels=0.00;HRun=0;HaplotypeScore=11.96;MQ=98.66;MQ0=0;OQ=11747.56;QD=20.72;RankSumP=0.154728;SB=-4748.13;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.530C>T;refseq.codonCoord_2=177;refseq.end_1=49302683;refseq.end_2=49302683;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2010;refseq.mrnaCoord_2=847;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T177M;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-1350;refseq.spliceDist_2=295;refseq.start_1=49302683;refseq.start_2=49302683;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr19 49302906 . T C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=612;Dels=0.00;HRun=0;HaplotypeScore=2.03;MQ=98.12;MQ0=0;OQ=25487.23;QD=41.65;RankSumP=1.00000;SB=-12231.31;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.753T>C;refseq.codonCoord_2=251;refseq.end_1=49302906;refseq.end_2=49302906;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1787;refseq.mrnaCoord_2=1070;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H251H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=1425;refseq.spliceDist_2=518;refseq.start_1=49302906;refseq.start_2=49302906;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 49303260 . A G 257.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=98.91;MQ0=0;OQ=8346.55;QD=33.93;RankSumP=1.00000;SB=-3398.86;SecondBestBaseQ=3;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1107A>G;refseq.codonCoord_2=369;refseq.end_1=49303260;refseq.end_2=49303260;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1433;refseq.mrnaCoord_2=1424;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E369E;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=1071;refseq.spliceDist_2=872;refseq.start_1=49303260;refseq.start_2=49303260;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 49303845 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=266;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=97.82;MQ0=1;OQ=10951.28;QD=41.17;RankSumP=1.00000;SB=-5270.10;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1692A>G;refseq.codonCoord_2=564;refseq.end_1=49303845;refseq.end_2=49303845;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=848;refseq.mrnaCoord_2=2009;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G564G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=486;refseq.spliceDist_2=-473;refseq.start_1=49303845;refseq.start_2=49303845;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr19 49303854 . A T 76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=269;Dels=0.00;HRun=2;HaplotypeScore=3.14;MQ=97.83;MQ0=1;OQ=11091.81;QD=41.23;RankSumP=1.00000;SB=-5544.03;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1701A>T;refseq.codonCoord_2=567;refseq.end_1=49303854;refseq.end_2=49303854;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=839;refseq.mrnaCoord_2=2018;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P567P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=477;refseq.spliceDist_2=-464;refseq.start_1=49303854;refseq.start_2=49303854;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 49304071 . A G 301.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=6.18;MQ=98.69;MQ0=0;OQ=14296.39;QD=42.05;RankSumP=1.00000;SB=-5002.35;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1918A>G;refseq.codonCoord_2=640;refseq.end_1=49304071;refseq.end_2=49304071;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=622;refseq.mrnaCoord_2=2235;refseq.name2_1=LOC100379224;refseq.name2_2=ZNF224;refseq.name_1=NR_033341;refseq.name_2=NM_013398;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K640E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=260;refseq.spliceDist_2=-247;refseq.start_1=49304071;refseq.start_2=49304071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr19 49424467 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.89T>G;refseq.codonCoord=30;refseq.end=49424467;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_182490;refseq.name2=ZNF227;refseq.positionType=CDS;refseq.proteinCoordStr=p.V30G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=49424467;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 49431143 . T C 188.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.97;MQ0=0;OQ=3955.53;QD=21.38;RankSumP=0.242903;SB=-1442.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.720T>C;refseq.codonCoord=240;refseq.end=49431143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_182490;refseq.name2=ZNF227;refseq.positionType=CDS;refseq.proteinCoordStr=p.N240N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=449;refseq.start=49431143;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 49431239 . T C 284.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=0;HaplotypeScore=12.98;MQ=98.78;MQ0=0;OQ=3879.96;QD=20.31;RankSumP=0.487420;SB=-1429.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.816T>C;refseq.codonCoord=272;refseq.end=49431239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1021;refseq.name=NM_182490;refseq.name2=ZNF227;refseq.positionType=CDS;refseq.proteinCoordStr=p.H272H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=545;refseq.start=49431239;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr19 49462219 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=49462219;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_181756;refseq.name2=ZNF233;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=49462219;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 49469776 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1123T>G;refseq.codonCoord=375;refseq.end=49469776;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_181756;refseq.name2=ZNF233;refseq.positionType=CDS;refseq.proteinCoordStr=p.C375G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=885;refseq.start=49469776;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr19 49470245 . A C 357.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=298;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.75;MQ0=0;OQ=5529.53;QD=18.56;RankSumP=0.377994;SB=-1730.13;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1592A>C;refseq.codonCoord=531;refseq.end=49470245;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1719;refseq.name=NM_181756;refseq.name2=ZNF233;refseq.positionType=CDS;refseq.proteinCoordStr=p.K531T;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-1064;refseq.start=49470245;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr19 49484541 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=423;Dels=0.00;HRun=1;HaplotypeScore=7.81;MQ=98.80;MQ0=0;OQ=8872.21;QD=20.97;RankSumP=0.0994636;SB=-3325.62;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.887A>C;refseq.codonCoord=296;refseq.end=49484541;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_004234;refseq.name2=ZNF235;refseq.positionType=CDS;refseq.proteinCoordStr=p.H296P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=649;refseq.start=49484541;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 49484809 . G A 179.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=286;Dels=0.00;HRun=1;HaplotypeScore=3.70;MQ=98.89;MQ0=0;OQ=5161.13;QD=18.05;RankSumP=0.0522864;SB=-1736.33;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.619C>T;refseq.codonCoord=207;refseq.end=49484809;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_004234;refseq.name2=ZNF235;refseq.positionType=CDS;refseq.proteinCoordStr=p.L207L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=381;refseq.start=49484809;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr19 49495697 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=49495697;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=147;refseq.name=NM_004234;refseq.name2=ZNF235;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=49495697;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 49524524 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=560;Dels=0.00;HRun=1;HaplotypeScore=8.45;MQ=99.00;MQ0=0;OQ=11497.72;QD=20.53;RankSumP=0.223109;SB=-4125.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1644A>C;refseq.codingCoordStr_2=c.1626A>C;refseq.codonCoord_1=548;refseq.codonCoord_2=542;refseq.end_1=49524524;refseq.end_2=49524524;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1757;refseq.mrnaCoord_2=1708;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T548T;refseq.proteinCoordStr_2=p.T542T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=1406;refseq.spliceDist_2=1406;refseq.start_1=49524524;refseq.start_2=49524524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr19 49524715 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=579;Dels=0.00;HRun=0;HaplotypeScore=18.71;MQ=98.73;MQ0=0;OQ=13129.46;QD=22.68;RankSumP=0.228731;SB=-4851.18;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1453T>C;refseq.codingCoordStr_2=c.1435T>C;refseq.codonCoord_1=485;refseq.codonCoord_2=479;refseq.end_1=49524715;refseq.end_2=49524715;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1566;refseq.mrnaCoord_2=1517;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y485H;refseq.proteinCoordStr_2=p.Y479H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=1215;refseq.spliceDist_2=1215;refseq.start_1=49524715;refseq.start_2=49524715;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr19 49524832 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=15.11;MQ=98.85;MQ0=0;OQ=7917.69;QD=25.71;RankSumP=0.246749;SB=-3045.68;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1336G>C;refseq.codingCoordStr_2=c.1318G>C;refseq.codonCoord_1=446;refseq.codonCoord_2=440;refseq.end_1=49524832;refseq.end_2=49524832;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1449;refseq.mrnaCoord_2=1400;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E446Q;refseq.proteinCoordStr_2=p.E440Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1098;refseq.spliceDist_2=1098;refseq.start_1=49524832;refseq.start_2=49524832;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr19 49525346 . C T 270.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=311;Dels=0.00;HRun=1;HaplotypeScore=5.16;MQ=98.89;MQ0=0;OQ=6303.46;QD=20.27;RankSumP=0.142724;SB=-1954.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.822G>A;refseq.codingCoordStr_2=c.804G>A;refseq.codonCoord_1=274;refseq.codonCoord_2=268;refseq.end_1=49525346;refseq.end_2=49525346;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=935;refseq.mrnaCoord_2=886;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E274E;refseq.proteinCoordStr_2=p.E268E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=584;refseq.spliceDist_2=584;refseq.start_1=49525346;refseq.start_2=49525346;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr19 49525473 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.695G>C;refseq.codingCoordStr_2=c.677G>C;refseq.codonCoord_1=232;refseq.codonCoord_2=226;refseq.end_1=49525473;refseq.end_2=49525473;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=759;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S232T;refseq.proteinCoordStr_2=p.S226T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=457;refseq.spliceDist_2=457;refseq.start_1=49525473;refseq.start_2=49525473;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr19 49525483 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.685G>A;refseq.codingCoordStr_2=c.667G>A;refseq.codonCoord_1=229;refseq.codonCoord_2=223;refseq.end_1=49525483;refseq.end_2=49525483;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=798;refseq.mrnaCoord_2=749;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E229K;refseq.proteinCoordStr_2=p.E223K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=447;refseq.spliceDist_2=447;refseq.start_1=49525483;refseq.start_2=49525483;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 0/1 chr19 49525691 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.89;MQ0=0;OQ=5785.05;QD=28.08;RankSumP=0.205929;SB=-1542.19;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.477C>G;refseq.codingCoordStr_2=c.459C>G;refseq.codonCoord_1=159;refseq.codonCoord_2=153;refseq.end_1=49525691;refseq.end_2=49525691;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=541;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F159L;refseq.proteinCoordStr_2=p.F153L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=239;refseq.spliceDist_2=239;refseq.start_1=49525691;refseq.start_2=49525691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr19 49532629 . T C 274.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=5.31;MQ=98.70;MQ0=0;OQ=4476.18;QD=18.35;RankSumP=0.377054;SB=-1436.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.225A>G;refseq.codingCoordStr_2=c.207A>G;refseq.codonCoord_1=75;refseq.codonCoord_2=69;refseq.end_1=49532629;refseq.end_2=49532629;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=338;refseq.mrnaCoord_2=289;refseq.name2_1=ZFP112;refseq.name2_2=ZFP112;refseq.name_1=NM_001083335;refseq.name_2=NM_013380;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R75R;refseq.proteinCoordStr_2=p.R69R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=49532629;refseq.start_2=49532629;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 1/0 chr19 49582494 . C T 18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=512;Dels=0.00;HRun=1;HaplotypeScore=12.35;MQ=76.63;MQ0=47;OQ=2074.13;QD=4.05;RankSumP=0.277427;SB=-397.73;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1753G>A;refseq.codonCoord=585;refseq.end=49582494;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1840;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E585K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-847;refseq.start=49582494;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 0/1 chr19 49582525 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=791;Dels=0.00;HRun=0;HaplotypeScore=21.68;MQ=74.40;MQ0=94;OQ=3084.40;QD=3.90;RankSumP=0.393066;SB=-1052.10;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1722A>C;refseq.codonCoord=574;refseq.end=49582525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1809;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G574G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-878;refseq.start=49582525;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 49582537 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=845;Dels=0.00;HRun=0;HaplotypeScore=26.34;MQ=73.43;MQ0=112;OQ=10336.51;QD=12.23;RankSumP=0.392213;SB=-3428.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1710T>C;refseq.codonCoord=570;refseq.end=49582537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1797;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H570H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-890;refseq.start=49582537;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr19 49582641 . T C 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=82.13;MQ0=60;OQ=10562.47;QD=33.75;RankSumP=1.00000;SB=-4636.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1606A>G;refseq.codonCoord=536;refseq.end=49582641;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1693;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R536G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-994;refseq.start=49582641;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr19 49582657 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=289;Dels=0.00;HRun=0;HaplotypeScore=13.67;MQ=86.60;MQ0=38;OQ=4284.75;QD=14.83;RankSumP=0.406447;SB=-1470.73;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1590C>T;refseq.codonCoord=530;refseq.end=49582657;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1677;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H530H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1010;refseq.start=49582657;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr19 49582843 . G A 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=369;Dels=0.00;HRun=1;HaplotypeScore=5.97;MQ=78.17;MQ0=76;OQ=741.95;QD=2.01;SB=43.97;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1404C>T;refseq.codonCoord=468;refseq.end=49582843;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1491;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S468S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-1196;refseq.start=49582843;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:311,58:282:-162.38,-84.90,-1043.10:99 chr19 49582850 . G C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=377;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=76.61;MQ0=88;OQ=898.17;QD=2.38;SB=-102.58;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1397C>G;refseq.codonCoord=466;refseq.end=49582850;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1484;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A466G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-1203;refseq.start=49582850;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:313,64:280:-177.43,-84.33,-1141.45:99 chr19 49582883 . G T 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=386;Dels=0.00;HRun=1;HaplotypeScore=4.39;MQ=65.84;MQ0=113;OQ=964.09;QD=2.50;SB=-316.25;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1364C>A;refseq.codonCoord=455;refseq.end=49582883;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P455Q;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1222;refseq.start=49582883;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:309,76:262:-178.58,-78.89,-905.31:99 chr19 49583624 . T C 328.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=277;Dels=0.00;HRun=0;HaplotypeScore=12.78;MQ=91.10;MQ0=4;OQ=5690.19;QD=20.54;RankSumP=0.349919;SB=-2346.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.623A>G;refseq.codonCoord=208;refseq.end=49583624;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=710;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N208S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=481;refseq.start=49583624;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr19 49583800 . C A 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.362860;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.447G>T;refseq.codonCoord=149;refseq.end=49583800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S149S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=305;refseq.start=49583800;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr19 49583809 . G A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.497416;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.438C>T;refseq.codonCoord=146;refseq.end=49583809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T146T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=296;refseq.start=49583809;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=soap GT 1/0 chr19 49583848 . T C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.334510;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.399A>G;refseq.codonCoord=133;refseq.end=49583848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=486;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q133Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=257;refseq.start=49583848;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 1/0 chr19 49583870 . A G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.474957;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.377T>C;refseq.codonCoord=126;refseq.end=49583870;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V126A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=235;refseq.start=49583870;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 0/1 chr19 49583993 . G C 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=456;Dels=0.00;HRun=0;HaplotypeScore=12.16;MQ=94.72;MQ0=3;OQ=119.10;QD=0.26;SB=365.52;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.254C>G;refseq.codonCoord=85;refseq.end=49583993;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T85S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=112;refseq.start=49583993;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:411,45:431:-144.98,-129.79,-1957.95:99 chr19 49584008 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=492;Dels=0.00;HRun=3;HaplotypeScore=17.76;MQ=94.06;MQ0=4;OQ=8715.55;QD=17.71;RankSumP=0.433235;SB=-3608.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.239G>A;refseq.codonCoord=80;refseq.end=49584008;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=326;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R80K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=97;refseq.start=49584008;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 49584046 . C A 0.16 PASS AC=1;AF=0.50;AN=2;DP=557;Dels=0.00;HRun=0;HaplotypeScore=14.06;MQ=93.80;MQ0=1;OQ=1601.58;QD=2.88;SB=-371.21;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.201G>T;refseq.codonCoord=67;refseq.end=49584046;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S67S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=59;refseq.start=49584046;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=gatk GT:AD:DP:GL:GQ 0/1:427,129:493:-311.89,-148.45,-1603.67:99 chr19 49584065 . T G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=521;Dels=0.00;HRun=0;HaplotypeScore=8.22;MQ=94.59;MQ0=1;OQ=996.90;QD=1.91;SB=68.93;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.182A>C;refseq.codonCoord=61;refseq.end=49584065;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=269;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K61T;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=40;refseq.start=49584065;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:409,112:467:-243.58,-140.61,-1655.14:99 chr19 49584068 . G C 0.05 PASS AC=1;AF=0.50;AN=2;DP=498;Dels=0.00;HRun=2;HaplotypeScore=11.22;MQ=94.96;MQ0=1;OQ=1595.75;QD=3.20;SB=-181.51;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.179C>G;refseq.codonCoord=60;refseq.end=49584068;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=266;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A60G;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=37;refseq.start=49584068;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=gatk GT:AD:DP:GL:GQ 0/1:395,103:450:-298.36,-135.50,-1942.61:99 chr19 49588442 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=49588442;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=131;refseq.name=NM_152354;refseq.name2=ZNF285A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=29;refseq.start=49588442;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr19 49626329 . G A 69.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=130;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=5606.55;QD=43.13;RankSumP=1.00000;SB=-2219.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.467C>T;refseq.codonCoord=156;refseq.end=49626329;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_014518;refseq.name2=ZNF229;refseq.positionType=CDS;refseq.proteinCoordStr=p.S156F;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=229;refseq.start=49626329;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 49673215 . T C 290.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=357;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.84;MQ0=0;OQ=7313.09;QD=20.48;RankSumP=0.355701;SB=-3041.13;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1323A>G;refseq.codonCoord=441;refseq.end=49673215;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1605;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q441Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=989;refseq.start=49673215;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 49673640 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=194;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.95;MQ0=0;OQ=4444.39;QD=22.91;RankSumP=0.383572;SB=-1557.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.898A>G;refseq.codonCoord=300;refseq.end=49673640;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1180;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.T300A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=564;refseq.start=49673640;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr19 49673672 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=247;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.97;MQ0=0;OQ=5300.53;QD=21.46;RankSumP=0.401873;SB=-1742.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.866A>G;refseq.codonCoord=289;refseq.end=49673672;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1148;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.H289R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=532;refseq.start=49673672;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr19 49673723 . C G 111.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=11.30;MQ=99.00;MQ0=0;OQ=6081.39;QD=22.03;RankSumP=0.307058;SB=-2323.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.815G>C;refseq.codonCoord=272;refseq.end=49673723;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.C272S;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=481;refseq.start=49673723;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 49675407 . C G 95.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=98.65;MQ0=0;OQ=15857.29;QD=48.35;RankSumP=1.00000;SB=-7865.78;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.267G>C;refseq.codonCoord=89;refseq.end=49675407;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.W89C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=60;refseq.start=49675407;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 49693186 . G A 246.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.54;MQ0=0;OQ=1574.75;QD=19.20;RankSumP=0.218906;SB=-622.64;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.122C>T;refseq.codonCoord=41;refseq.end=49693186;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=404;refseq.name=NM_013256;refseq.name2=ZNF180;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-11;refseq.start=49693186;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 49842619 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.364A>C;refseq.codingCoordStr_2=c.364A>C;refseq.codingCoordStr_3=c.364A>C;refseq.codingCoordStr_4=c.364A>C;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.codonCoord_3=122;refseq.codonCoord_4=122;refseq.end_1=49842619;refseq.end_2=49842619;refseq.end_3=49842619;refseq.end_4=49842619;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=663;refseq.mrnaCoord_2=663;refseq.mrnaCoord_3=663;refseq.mrnaCoord_4=663;refseq.name2_1=PVR;refseq.name2_2=PVR;refseq.name2_3=PVR;refseq.name2_4=PVR;refseq.name_1=NM_001135768;refseq.name_2=NM_001135769;refseq.name_3=NM_001135770;refseq.name_4=NM_006505;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T122P;refseq.proteinCoordStr_2=p.T122P;refseq.proteinCoordStr_3=p.T122P;refseq.proteinCoordStr_4=p.T122P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.spliceDist_4=-64;refseq.start_1=49842619;refseq.start_2=49842619;refseq.start_3=49842619;refseq.start_4=49842619;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 0/1 chr19 49853878 . A G 255.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=441;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.55;MQ0=0;OQ=18631.93;QD=42.25;RankSumP=1.00000;SB=-7474.37;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.1015+5;refseq.codingCoordStr_3=c.1020A>G;refseq.codingCoordStr_4=c.1020A>G;refseq.codonCoord_3=340;refseq.codonCoord_4=340;refseq.end_1=49856388;refseq.end_2=49853878;refseq.end_3=49853878;refseq.end_4=49853878;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=1319;refseq.mrnaCoord_4=1319;refseq.name2_1=PVR;refseq.name2_2=PVR;refseq.name2_3=PVR;refseq.name2_4=PVR;refseq.name_1=NM_001135769;refseq.name_2=NM_001135768;refseq.name_3=NM_001135770;refseq.name_4=NM_006505;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.I340M;refseq.proteinCoordStr_4=p.I340M;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_2=5;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.spliceInfo_2=splice-donor_5;refseq.start_1=49853029;refseq.start_2=49853878;refseq.start_3=49853878;refseq.start_4=49853878;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/1 chr19 49951382 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.464T>G;refseq.codonCoord=155;refseq.end=49951382;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=534;refseq.name=NM_005178;refseq.name2=BCL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=54;refseq.start=49951382;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr19 50014584 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=151.24;QD=10.08;RankSumP=0.547319;SB=-66.30;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1615A>G;refseq.codingCoordStr_2=c.1615A>G;refseq.codonCoord_1=539;refseq.codonCoord_2=539;refseq.end_1=50014584;refseq.end_2=50014584;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1659;refseq.mrnaCoord_2=1659;refseq.name2_1=BCAM;refseq.name2_2=BCAM;refseq.name_1=NM_001013257;refseq.name_2=NM_005581;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T539A;refseq.proteinCoordStr_2=p.T539A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.start_1=50014584;refseq.start_2=50014584;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr19 50081064 . A G 298.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=6.40;MQ=98.39;MQ0=0;OQ=10461.90;QD=37.10;RankSumP=1.00000;SB=-4322.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1227A>G;refseq.codonCoord=409;refseq.end=50081064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1617;refseq.name=NM_001042724;refseq.name2=PVRL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P409P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=31;refseq.start=50081064;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr19 50083318 . G T 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.0648868;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1459G>T;refseq.codonCoord=487;refseq.end=50083318;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1849;refseq.name=NM_001042724;refseq.name2=PVRL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V487L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=112;refseq.start=50083318;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=FilteredInAll GT 0/1 chr19 50083413 . T C 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.150017;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1554T>C;refseq.codonCoord=518;refseq.end=50083413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1944;refseq.name=NM_001042724;refseq.name2=PVRL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y518Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=207;refseq.start=50083413;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 1/0 chr19 50139876 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=4.10;MQ=98.74;MQ0=0;OQ=1229.66;QD=19.83;RankSumP=0.301659;SB=-596.69;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.107T>C;refseq.codonCoord=36;refseq.end=50139876;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=147;refseq.name=NM_001646;refseq.name2=APOC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L36P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=31;refseq.start=50139876;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 50140305 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.80;MQ0=0;OQ=1081.22;QD=11.03;RankSumP=0.418169;SB=-488.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.287T>G;refseq.codonCoord=96;refseq.end=50140305;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=327;refseq.name=NM_001646;refseq.name2=APOC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L96R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=69;refseq.start=50140305;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr19 50144277 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.237A>C;refseq.codonCoord=79;refseq.end=50144277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=340;refseq.name=NM_000483;refseq.name2=APOC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T79T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=22;refseq.start=50144277;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr19 50144278 . G C 34.39 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=138;Dels=0.00;HRun=1;HaplotypeScore=11.22;MQ=97.99;MQ0=0;QD=0.25;RankSumP=0.00000;SB=245.87;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.238G>C;refseq.codonCoord=80;refseq.end=50144278;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_000483;refseq.name2=APOC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A80P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=23;refseq.start=50144278;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr19 50168262 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=6.79;MQ=98.82;MQ0=0;OQ=1757.76;QD=26.63;RankSumP=1.00000;SB=-776.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=50168262;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=279;refseq.name=NM_001294;refseq.name2=CLPTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A88A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-46;refseq.start=50168262;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 50182410 . A G 168.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.23;MQ0=0;OQ=1025.72;QD=14.45;RankSumP=0.194739;SB=-510.96;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.927A>G;refseq.codonCoord=309;refseq.end=50182410;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=942;refseq.name=NM_001294;refseq.name2=CLPTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P309P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-112;refseq.start=50182410;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr19 50182476 . T C 167.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=98.10;MQ0=0;OQ=1278.12;QD=13.18;RankSumP=0.277987;SB=-653.73;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.993T>C;refseq.codonCoord=331;refseq.end=50182476;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_001294;refseq.name2=CLPTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G331G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-46;refseq.start=50182476;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 50252903 . A G 388.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=0.20;MQ=98.97;MQ0=0;OQ=6262.17;QD=37.05;RankSumP=1.00000;SB=-2424.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.520A>G;refseq.codonCoord=174;refseq.end=50252903;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_007056;refseq.name2=SFRS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.K174E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=56;refseq.start=50252903;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr19 50263119 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1674A>C;refseq.codonCoord=558;refseq.end=50263119;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1772;refseq.name=NM_007056;refseq.name2=SFRS16;refseq.positionType=CDS;refseq.proteinCoordStr=p.E558D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=50263119;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr19 50264224 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.chr=chr19;refseq.codingCoordStr=c.1827+2;refseq.end=50264224;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_007056;refseq.name2=SFRS16;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=50264224;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr19 50267303 . T G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.500000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.824A>C;refseq.codonCoord=275;refseq.end=50267303;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_145288;refseq.name2=ZNF296;refseq.positionType=CDS;refseq.proteinCoordStr=p.N275T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=376;refseq.start=50267303;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 50267501 . A C 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.512101;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.626T>G;refseq.codonCoord=209;refseq.end=50267501;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_145288;refseq.name2=ZNF296;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=178;refseq.start=50267501;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 50347987 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.000114287;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1548C>A;refseq.codonCoord=516;refseq.end=50347987;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1548;refseq.name=NM_198478;refseq.name2=NKPD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y516*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=887;refseq.start=50347987;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr19 50466781 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.761T>C;refseq.codonCoord=254;refseq.end=50466781;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_031417;refseq.name2=MARK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L254P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-26;refseq.start=50466781;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr19 50475763 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1207A>C;refseq.codonCoord=403;refseq.end=50475763;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1212;refseq.name=NM_031417;refseq.name2=MARK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T403P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-70;refseq.start=50475763;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 50492858 . T C 84.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.28;MQ0=0;OQ=950.79;QD=28.81;RankSumP=1.00000;SB=-329.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1683T>C;refseq.codonCoord=561;refseq.end=50492858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1688;refseq.name=NM_031417;refseq.name2=MARK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R561R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=85;refseq.start=50492858;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 50501875 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=455;Dels=0.00;HRun=0;HaplotypeScore=26.27;MQ=98.10;MQ0=0;OQ=15491.98;QD=34.05;RankSumP=1.00000;SB=-7458.98;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1119T>C;refseq.codonCoord=373;refseq.end=50501875;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1193;refseq.name=NM_001824;refseq.name2=CKM;refseq.positionType=CDS;refseq.proteinCoordStr=p.I373I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=152;refseq.start=50501875;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr19 50510675 . A G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=4.01;MQ=98.77;MQ0=0;OQ=1608.73;QD=32.17;RankSumP=1.00000;SB=-520.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.369T>C;refseq.codonCoord=123;refseq.end=50510675;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=443;refseq.name=NM_001824;refseq.name2=CKM;refseq.positionType=CDS;refseq.proteinCoordStr=p.P123P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=21;refseq.start=50510675;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 50546759 . T G 116.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.96;MQ0=0;OQ=852.92;QD=12.54;RankSumP=0.140913;SB=-382.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2251A>C;refseq.codonCoord=751;refseq.end=50546759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_000400;refseq.name2=ERCC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K751Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=61;refseq.start=50546759;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 50560149 . T G 209.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=98.82;MQ0=0;OQ=1752.90;QD=13.80;RankSumP=0.236089;SB=-874.25;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.468A>C;refseq.codingCoordStr_2=c.396A>C;refseq.codonCoord_1=156;refseq.codonCoord_2=132;refseq.end_1=50560149;refseq.end_2=50560149;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=818;refseq.name2_1=ERCC2;refseq.name2_2=ERCC2;refseq.name_1=NM_000400;refseq.name_2=NM_001130867;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R156R;refseq.proteinCoordStr_2=p.R132R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=50560149;refseq.start_2=50560149;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr19 50603842 . A C 186.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=98.64;MQ0=0;OQ=918.27;QD=14.58;RankSumP=0.0728091;SB=-425.82;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.*931T>G;refseq.codingCoordStr_2=c.*931T>G;refseq.codingCoordStr_3=c.776A>C;refseq.codonCoord_3=259;refseq.end_1=50603842;refseq.end_2=50603842;refseq.end_3=50603842;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1899;refseq.mrnaCoord_2=1971;refseq.mrnaCoord_3=1264;refseq.name2_1=ERCC1;refseq.name2_2=ERCC1;refseq.name2_3=CD3EAP;refseq.name_1=NM_001166049;refseq.name_2=NM_001983;refseq.name_3=NM_012099;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K259T;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=982;refseq.spliceDist_2=982;refseq.spliceDist_3=612;refseq.start_1=50603842;refseq.start_2=50603842;refseq.start_3=50603842;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr19 50604183 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=743.88;QD=11.10;RankSumP=0.0199800;SB=-208.94;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.*590T>C;refseq.codingCoordStr_2=c.*590T>C;refseq.codingCoordStr_3=c.1117A>G;refseq.codonCoord_3=373;refseq.end_1=50604183;refseq.end_2=50604183;refseq.end_3=50604183;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1558;refseq.mrnaCoord_2=1630;refseq.mrnaCoord_3=1605;refseq.name2_1=ERCC1;refseq.name2_2=ERCC1;refseq.name2_3=CD3EAP;refseq.name_1=NM_001166049;refseq.name_2=NM_001983;refseq.name_3=NM_012099;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.K373E;refseq.referenceAA_3=Lys;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=641;refseq.spliceDist_2=641;refseq.spliceDist_3=953;refseq.start_1=50604183;refseq.start_2=50604183;refseq.start_3=50604183;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Glu;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr19 50604246 . G A 144.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=258;Dels=0.00;HRun=2;HaplotypeScore=6.01;MQ=98.53;MQ0=0;OQ=4550.06;QD=17.64;RankSumP=0.0136507;SB=-1327.23;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.*527C>T;refseq.codingCoordStr_2=c.*527C>T;refseq.codingCoordStr_3=c.1180G>A;refseq.codonCoord_3=394;refseq.end_1=50604246;refseq.end_2=50604246;refseq.end_3=50604246;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1495;refseq.mrnaCoord_2=1567;refseq.mrnaCoord_3=1668;refseq.name2_1=ERCC1;refseq.name2_2=ERCC1;refseq.name2_3=CD3EAP;refseq.name_1=NM_001166049;refseq.name_2=NM_001983;refseq.name_3=NM_012099;refseq.numMatchingRecords=3;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.D394N;refseq.referenceAA_3=Asp;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=578;refseq.spliceDist_2=578;refseq.spliceDist_3=1016;refseq.start_1=50604246;refseq.start_2=50604246;refseq.start_3=50604246;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Asn;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr19 50615493 . A G 112.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=98.55;MQ0=0;OQ=2701.93;QD=12.17;RankSumP=0.295375;SB=-1292.43;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.354T>C;refseq.codingCoordStr_2=c.354T>C;refseq.codingCoordStr_3=c.354T>C;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=50615493;refseq.end_2=50615493;refseq.end_3=50615493;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=500;refseq.mrnaCoord_2=500;refseq.mrnaCoord_3=542;refseq.name2_1=ERCC1;refseq.name2_2=ERCC1;refseq.name2_3=ERCC1;refseq.name_1=NM_001166049;refseq.name_2=NM_001983;refseq.name_3=NM_202001;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N118N;refseq.proteinCoordStr_2=p.N118N;refseq.proteinCoordStr_3=p.N118N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=50615493;refseq.start_2=50615493;refseq.start_3=50615493;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 0/1 chr19 50663801 . C G 134.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=3.71;MQ=98.79;MQ0=0;OQ=2598.07;QD=12.74;RankSumP=0.0443314;SB=-1013.81;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.117C>G;refseq.codingCoordStr_2=c.117C>G;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=50663801;refseq.end_2=50663801;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=709;refseq.mrnaCoord_2=709;refseq.name2_1=FOSB;refseq.name2_2=FOSB;refseq.name_1=NM_001114171;refseq.name_2=NM_006732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A39A;refseq.proteinCoordStr_2=p.A39A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=50663801;refseq.start_2=50663801;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr19 50665811 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=4.59804e-09;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.211G>T;refseq.codingCoordStr_2=c.211G>T;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=50665811;refseq.end_2=50665811;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=803;refseq.mrnaCoord_2=803;refseq.name2_1=FOSB;refseq.name2_2=FOSB;refseq.name_1=NM_001114171;refseq.name_2=NM_006732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V71L;refseq.proteinCoordStr_2=p.V71L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=85;refseq.spliceDist_2=85;refseq.start_1=50665811;refseq.start_2=50665811;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=FilteredInAll GT 0/1 chr19 50804768 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1943T>G;refseq.codonCoord=648;refseq.end=50804768;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1978;refseq.name=NM_012155;refseq.name2=EML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V648G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=119;refseq.start=50804768;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 50812726 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.chr=chr19;refseq.codingCoordStr=c.1322+2;refseq.end=50812726;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_012155;refseq.name2=EML2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=50812726;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr19 50816371 . G A 244.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=262;Dels=0.00;HRun=0;HaplotypeScore=6.72;MQ=98.84;MQ0=0;OQ=4702.39;QD=17.95;RankSumP=0.429340;SB=-1253.24;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1056C>T;refseq.codonCoord=352;refseq.end=50816371;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1091;refseq.name=NM_012155;refseq.name2=EML2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y352Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=60;refseq.start=50816371;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr19 50873232 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=2.23;MQ=97.73;MQ0=0;OQ=445.06;QD=11.71;RankSumP=0.586943;SB=-172.79;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1060G>C;refseq.codonCoord=354;refseq.end=50873232;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_000164;refseq.name2=GIPR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E354Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=47;refseq.start=50873232;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 50898102 . G A 231.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.99;MQ0=0;OQ=4272.98;QD=16.82;RankSumP=0.195801;SB=-1386.78;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.822G>A;refseq.codingCoordStr_2=c.1104G>A;refseq.codonCoord_1=274;refseq.codonCoord_2=368;refseq.end_1=50898102;refseq.end_2=50898102;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1043;refseq.mrnaCoord_2=1325;refseq.name2_1=QPCTL;refseq.name2_2=QPCTL;refseq.name_1=NM_001163377;refseq.name_2=NM_017659;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L274L;refseq.proteinCoordStr_2=p.L368L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.start_1=50898102;refseq.start_2=50898102;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/0 chr19 50960742 . C T 167.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=98.19;MQ0=0;OQ=1024.68;QD=13.66;RankSumP=0.281785;SB=-458.44;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2077G>A;refseq.codonCoord=693;refseq.end=50960742;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2472;refseq.name=NM_175875;refseq.name2=SIX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V693M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=468;refseq.start=50960742;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 50960916 . G A 196.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=98.00;MQ0=0;OQ=778.00;QD=19.45;RankSumP=0.139749;SB=-155.60;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1903C>T;refseq.codonCoord=635;refseq.end=50960916;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2298;refseq.name=NM_175875;refseq.name2=SIX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P635S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=294;refseq.start=50960916;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 50961153 . G C 223.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=95.50;MQ0=0;OQ=1287.83;QD=34.81;RankSumP=1.00000;SB=-606.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1666C>G;refseq.codonCoord=556;refseq.end=50961153;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2061;refseq.name=NM_175875;refseq.name2=SIX5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L556V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=57;refseq.start=50961153;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 50974406 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.388T>G;refseq.codingCoordStr_2=c.388T>G;refseq.codingCoordStr_3=c.418T>G;refseq.codingCoordStr_4=c.388T>G;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.codonCoord_3=140;refseq.codonCoord_4=130;refseq.end_1=50974406;refseq.end_2=50974406;refseq.end_3=50974406;refseq.end_4=50974406;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=593;refseq.mrnaCoord_2=593;refseq.mrnaCoord_3=962;refseq.mrnaCoord_4=593;refseq.name2_1=DMPK;refseq.name2_2=DMPK;refseq.name2_3=DMPK;refseq.name2_4=DMPK;refseq.name_1=NM_001081560;refseq.name_2=NM_001081562;refseq.name_3=NM_001081563;refseq.name_4=NM_004409;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.W130G;refseq.proteinCoordStr_2=p.W130G;refseq.proteinCoordStr_3=p.W140G;refseq.proteinCoordStr_4=p.W130G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.spliceDist_4=-45;refseq.start_1=50974406;refseq.start_2=50974406;refseq.start_3=50974406;refseq.start_4=50974406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr19 50981232 . G C 188.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=72.97;MQ0=0;OQ=220.08;QD=36.68;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1362C>G;refseq.codonCoord=454;refseq.end=50981232;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1408;refseq.name=NM_004943;refseq.name2=DMWD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P454P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-541;refseq.start=50981232;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/1 chr19 50981343 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=97.21;MQ0=0;OQ=284.82;QD=7.50;RankSumP=0.336872;SB=-96.92;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1251G>A;refseq.codonCoord=417;refseq.end=50981343;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1297;refseq.name=NM_004943;refseq.name2=DMWD;refseq.positionType=CDS;refseq.proteinCoordStr=p.P417P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=627;refseq.start=50981343;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 50986131 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=233;Dels=0.00;HRun=3;HaplotypeScore=18.73;MQ=98.11;MQ0=0;OQ=139.84;QD=0.60;RankSumP=0.00000;SB=318.03;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.496A>C;refseq.codonCoord=166;refseq.end=50986131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=542;refseq.name=NM_004943;refseq.name2=DMWD;refseq.positionType=CDS;refseq.proteinCoordStr=p.T166P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=55;refseq.start=50986131;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 51043092 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.434T>G;refseq.codonCoord=145;refseq.end=51043092;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=679;refseq.name=NM_004819;refseq.name2=SYMPK;refseq.positionType=CDS;refseq.proteinCoordStr=p.V145G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=51043092;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr19 51135579 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.23;MQ=99.00;MQ0=0;OQ=561.76;QD=10.21;RankSumP=0.674234;SB=-245.81;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.861A>C;refseq.codonCoord=287;refseq.end=51135579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=909;refseq.name=NM_002516;refseq.name2=NOVA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A287A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=465;refseq.start=51135579;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr19 51135726 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=97.79;MQ0=0;OQ=177.85;QD=9.88;RankSumP=0.0609946;SB=-85.87;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.714G>T;refseq.codonCoord=238;refseq.end=51135726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_002516;refseq.name2=NOVA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L238L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=318;refseq.start=51135726;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr19 51503824 . A G 191.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=8.51;MQ=96.76;MQ0=0;OQ=1350.15;QD=18.75;RankSumP=1.00000;SB=-344.14;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.345A>G;refseq.codingCoordStr_2=c.507A>G;refseq.codingCoordStr_3=c.513A>G;refseq.codonCoord_1=115;refseq.codonCoord_2=169;refseq.codonCoord_3=171;refseq.end_1=51503824;refseq.end_2=51503824;refseq.end_3=51503824;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=600;refseq.mrnaCoord_2=556;refseq.mrnaCoord_3=542;refseq.name2_1=HIF3A;refseq.name2_2=HIF3A;refseq.name2_3=HIF3A;refseq.name_1=NM_022462;refseq.name_2=NM_152794;refseq.name_3=NM_152795;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T115T;refseq.proteinCoordStr_2=p.T169T;refseq.proteinCoordStr_3=p.T171T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=51503824;refseq.start_2=51503824;refseq.start_3=51503824;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr19 51507339 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=473;Dels=0.00;HRun=0;HaplotypeScore=34.35;MQ=98.03;MQ0=0;OQ=12158.18;QD=25.70;RankSumP=1.00000;SB=-3475.32;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.684T>C;refseq.codingCoordStr_2=c.846T>C;refseq.codingCoordStr_3=c.852T>C;refseq.codonCoord_1=228;refseq.codonCoord_2=282;refseq.codonCoord_3=284;refseq.end_1=51507339;refseq.end_2=51507339;refseq.end_3=51507339;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=895;refseq.mrnaCoord_3=881;refseq.name2_1=HIF3A;refseq.name2_2=HIF3A;refseq.name2_3=HIF3A;refseq.name_1=NM_022462;refseq.name_2=NM_152794;refseq.name_3=NM_152795;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D228D;refseq.proteinCoordStr_2=p.D282D;refseq.proteinCoordStr_3=p.D284D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=51507339;refseq.start_2=51507339;refseq.start_3=51507339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr19 51548855 . C T 288.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=98.62;MQ0=0;OQ=4006.81;QD=15.77;RankSumP=0.129622;SB=-1592.43;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.132C>T;refseq.codonCoord=44;refseq.end=51548855;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=192;refseq.name=NM_006247;refseq.name2=PPP5C;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y44Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=11;refseq.start=51548855;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr19 51606761 . G A 137.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=572;Dels=0.00;HRun=0;HaplotypeScore=13.43;MQ=97.48;MQ0=0;OQ=9532.77;QD=16.67;RankSumP=0.0877934;SB=-3386.03;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1147C>T;refseq.codonCoord=383;refseq.end=51606761;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1999;refseq.name=NM_032040;refseq.name2=CCDC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H383Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1335;refseq.start=51606761;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 51665821 . G A 140.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.82;MQ0=0;OQ=1680.46;QD=16.16;RankSumP=0.128329;SB=-705.15;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.312C>T;refseq.codingCoordStr_2=c.312C>T;refseq.codonCoord_1=104;refseq.codonCoord_2=104;refseq.end_1=51665821;refseq.end_2=51665821;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=618;refseq.mrnaCoord_2=618;refseq.name2_1=PNMAL1;refseq.name2_2=PNMAL1;refseq.name_1=NM_001103149;refseq.name_2=NM_018215;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A104A;refseq.proteinCoordStr_2=p.A104A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=391;refseq.spliceDist_2=391;refseq.start_1=51665821;refseq.start_2=51665821;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr19 51666073 . G A 146.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=98.63;MQ0=0;OQ=8331.80;QD=18.07;RankSumP=0.347632;SB=-3415.27;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.60C>T;refseq.codingCoordStr_2=c.60C>T;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=51666073;refseq.end_2=51666073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=366;refseq.mrnaCoord_2=366;refseq.name2_1=PNMAL1;refseq.name2_2=PNMAL1;refseq.name_1=NM_001103149;refseq.name_2=NM_018215;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D20D;refseq.proteinCoordStr_2=p.D20D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=139;refseq.spliceDist_2=139;refseq.start_1=51666073;refseq.start_2=51666073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/0 chr19 51816554 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=98.89;MQ0=0;OQ=201.24;QD=7.19;RankSumP=0.707496;SB=-105.88;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.984A>C;refseq.codonCoord=328;refseq.end=51816554;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1097;refseq.name=NM_000960;refseq.name2=PTGIR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S328S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=216;refseq.start=51816554;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr19 51829299 . C T 200.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=94.99;MQ0=0;OQ=433.55;QD=16.06;RankSumP=0.0631868;SB=-195.20;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.87G>A;refseq.codonCoord=29;refseq.end=51829299;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=87;refseq.name=NM_033258;refseq.name2=GNG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V29V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=51829299;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr19 51869753 . A G 262.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=98.92;MQ0=0;OQ=3487.91;QD=31.71;RankSumP=1.00000;SB=-1527.96;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.2504T>C;refseq.codingCoordStr_2=c.2504T>C;refseq.codingCoordStr_3=c.2033T>C;refseq.codingCoordStr_4=c.2504T>C;refseq.codonCoord_1=835;refseq.codonCoord_2=835;refseq.codonCoord_3=678;refseq.codonCoord_4=835;refseq.end_1=51869753;refseq.end_2=51869753;refseq.end_3=51869753;refseq.end_4=51869753;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2982;refseq.mrnaCoord_2=2846;refseq.mrnaCoord_3=2583;refseq.mrnaCoord_4=3261;refseq.name2_1=PRKD2;refseq.name2_2=PRKD2;refseq.name2_3=PRKD2;refseq.name2_4=PRKD2;refseq.name_1=NM_001079880;refseq.name_2=NM_001079881;refseq.name_3=NM_001079882;refseq.name_4=NM_016457;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V835A;refseq.proteinCoordStr_2=p.V835A;refseq.proteinCoordStr_3=p.V678A;refseq.proteinCoordStr_4=p.V835A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.spliceDist_4=80;refseq.start_1=51869753;refseq.start_2=51869753;refseq.start_3=51869753;refseq.start_4=51869753;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 1/1 chr19 51917401 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1964A>C;refseq.codingCoordStr_2=c.1943A>C;refseq.codonCoord_1=655;refseq.codonCoord_2=648;refseq.end_1=51917401;refseq.end_2=51917401;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1997;refseq.mrnaCoord_2=1976;refseq.name2_1=STRN4;refseq.name2_2=STRN4;refseq.name_1=NM_001039877;refseq.name_2=NM_013403;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N655T;refseq.proteinCoordStr_2=p.N648T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=51917401;refseq.start_2=51917401;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr19 51920651 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1364A>C;refseq.codingCoordStr_2=c.1343A>C;refseq.codonCoord_1=455;refseq.codonCoord_2=448;refseq.end_1=51920651;refseq.end_2=51920651;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1376;refseq.name2_1=STRN4;refseq.name2_2=STRN4;refseq.name_1=NM_001039877;refseq.name_2=NM_013403;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H455P;refseq.proteinCoordStr_2=p.H448P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=51920651;refseq.start_2=51920651;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr19 51941348 . C G 4 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.180G>C;refseq.codingCoordStr_4=c.180G>C;refseq.codonCoord_3=60;refseq.codonCoord_4=60;refseq.end_1=51943113;refseq.end_2=51943113;refseq.end_3=51941348;refseq.end_4=51941348;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=213;refseq.mrnaCoord_4=213;refseq.name2_1=FKRP;refseq.name2_2=FKRP;refseq.name2_3=STRN4;refseq.name2_4=STRN4;refseq.name_1=NM_001039885;refseq.name_2=NM_024301;refseq.name_3=NM_001039877;refseq.name_4=NM_013403;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.P60P;refseq.proteinCoordStr_4=p.P60P;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_3=-103;refseq.spliceDist_4=-103;refseq.start_1=51941198;refseq.start_2=51941198;refseq.start_3=51941348;refseq.start_4=51941348;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/1 chr19 51941351 . G C 4 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=2;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.177C>G;refseq.codingCoordStr_4=c.177C>G;refseq.codonCoord_3=59;refseq.codonCoord_4=59;refseq.end_1=51943113;refseq.end_2=51943113;refseq.end_3=51941351;refseq.end_4=51941351;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_3=210;refseq.mrnaCoord_4=210;refseq.name2_1=FKRP;refseq.name2_2=FKRP;refseq.name2_3=STRN4;refseq.name2_4=STRN4;refseq.name_1=NM_001039885;refseq.name_2=NM_024301;refseq.name_3=NM_001039877;refseq.name_4=NM_013403;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.G59G;refseq.proteinCoordStr_4=p.G59G;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_3=-106;refseq.spliceDist_4=-106;refseq.start_1=51941198;refseq.start_2=51941198;refseq.start_3=51941351;refseq.start_4=51941351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/1 chr19 51951493 rs28937901 C T 15.43 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;QD=1.93;SB=-31.62;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.946C>T;refseq.codingCoordStr_2=c.946C>T;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.end_1=51951493;refseq.end_2=51951493;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1295;refseq.mrnaCoord_2=1243;refseq.name2_1=FKRP;refseq.name2_2=FKRP;refseq.name_1=NM_001039885;refseq.name_2=NM_024301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P316S;refseq.proteinCoordStr_2=p.P316S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=985;refseq.spliceDist_2=985;refseq.start_1=51951493;refseq.start_2=51951493;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:6,2:7:-6.92,-2.11,-21.15:48.14 chr19 51951574 . G C 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;HRun=1;RankSumP=0.678571;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1027G>C;refseq.codingCoordStr_2=c.1027G>C;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.end_1=51951574;refseq.end_2=51951574;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=1324;refseq.name2_1=FKRP;refseq.name2_2=FKRP;refseq.name_1=NM_001039885;refseq.name_2=NM_024301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E343Q;refseq.proteinCoordStr_2=p.E343Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1066;refseq.spliceDist_2=1066;refseq.start_1=51951574;refseq.start_2=51951574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chr19 51951575 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=10;HRun=0;RankSumP=0.0277778;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1028A>C;refseq.codingCoordStr_2=c.1028A>C;refseq.codonCoord_1=343;refseq.codonCoord_2=343;refseq.end_1=51951575;refseq.end_2=51951575;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1377;refseq.mrnaCoord_2=1325;refseq.name2_1=FKRP;refseq.name2_2=FKRP;refseq.name_1=NM_001039885;refseq.name_2=NM_024301;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E343A;refseq.proteinCoordStr_2=p.E343A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1067;refseq.spliceDist_2=1067;refseq.start_1=51951575;refseq.start_2=51951575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 0/1 chr19 51970778 . G A 121.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=99.00;MQ0=0;OQ=920.50;QD=21.92;RankSumP=0.369257;SB=-119.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.771C>T;refseq.codingCoordStr_2=c.849C>T;refseq.codingCoordStr_3=c.1455C>T;refseq.codonCoord_1=257;refseq.codonCoord_2=283;refseq.codonCoord_3=485;refseq.end_1=51970778;refseq.end_2=51970778;refseq.end_3=51970778;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=939;refseq.mrnaCoord_2=1129;refseq.mrnaCoord_3=2075;refseq.name2_1=SLC1A5;refseq.name2_2=SLC1A5;refseq.name2_3=SLC1A5;refseq.name_1=NM_001145144;refseq.name_2=NM_001145145;refseq.name_3=NM_005628;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y257Y;refseq.proteinCoordStr_2=p.Y283Y;refseq.proteinCoordStr_3=p.Y485Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=51970778;refseq.start_2=51970778;refseq.start_3=51970778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr19 51974002 . G A 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=103.12;QD=2.71;RankSumP=0.616652;SB=29.12;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.144C>T;refseq.codingCoordStr_2=c.222C>T;refseq.codingCoordStr_3=c.828C>T;refseq.codonCoord_1=48;refseq.codonCoord_2=74;refseq.codonCoord_3=276;refseq.end_1=51974002;refseq.end_2=51974002;refseq.end_3=51974002;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=312;refseq.mrnaCoord_2=502;refseq.mrnaCoord_3=1448;refseq.name2_1=SLC1A5;refseq.name2_2=SLC1A5;refseq.name2_3=SLC1A5;refseq.name_1=NM_001145144;refseq.name_2=NM_001145145;refseq.name_3=NM_005628;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y48Y;refseq.proteinCoordStr_2=p.Y74Y;refseq.proteinCoordStr_3=p.Y276Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=51974002;refseq.start_2=51974002;refseq.start_3=51974002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=soap-filterIngatk GT 1/0 chr19 52235614 . G A 121.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=938.85;QD=33.53;RankSumP=1.00000;SB=-394.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1035G>A;refseq.codonCoord=345;refseq.end=52235614;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1197;refseq.name=NM_002517;refseq.name2=NPAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q345Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-35;refseq.start=52235614;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 52240518 . G A 48.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=99.00;MQ0=0;OQ=436.53;QD=22.98;RankSumP=1.00000;SB=-79.32;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1542G>A;refseq.codonCoord=514;refseq.end=52240518;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_002517;refseq.name2=NPAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A514A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=230;refseq.start=52240518;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 52241294 . C T 31.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=93.90;QD=23.48;RankSumP=1.00000;SB=-53.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.358G>A;refseq.codonCoord=120;refseq.end=52241294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_017854;refseq.name2=TMEM160;refseq.positionType=CDS;refseq.proteinCoordStr=p.G120S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=57;refseq.start=52241294;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=filterInsoap-gatk GT 1/1 chr19 52241740 . G A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.423223;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.252C>T;refseq.codonCoord=84;refseq.end=52241740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=262;refseq.name=NM_017854;refseq.name2=TMEM160;refseq.positionType=CDS;refseq.proteinCoordStr=p.I84I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=44;refseq.start=52241740;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 1/0 chr19 52277357 . G C 246.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.79;MQ0=0;OQ=2327.25;QD=20.60;RankSumP=0.343898;SB=-720.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1254C>G;refseq.codonCoord=418;refseq.end=52277357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_015168;refseq.name2=ZC3H4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L418L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=36;refseq.start=52277357;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 52459968 . G C 0.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=93.56;MQ0=0;OQ=86.96;QD=7.91;RankSumP=0.342857;SB=-54.91;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.645G>C;refseq.codonCoord=215;refseq.end=52459968;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_015603;refseq.name2=CCDC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.E215D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-76;refseq.start=52459968;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 0/1 chr19 52461855 . A C 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=97.57;MQ0=0;OQ=94.57;QD=2.96;RankSumP=0.161088;SB=-34.54;SecondBestBaseQ=20;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.868A>C;refseq.codonCoord=290;refseq.end=52461855;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1075;refseq.name=NM_015603;refseq.name2=CCDC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R290R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-35;refseq.start=52461855;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr19 52466412 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.96;MQ0=0;OQ=493.82;QD=11.22;RankSumP=0.579648;SB=-207.19;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1233C>T;refseq.codonCoord=411;refseq.end=52466412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1440;refseq.name=NM_015603;refseq.name2=CCDC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.D411D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=42;refseq.start=52466412;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 52466612 . T C 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=93.63;MQ0=0;OQ=284.90;QD=12.39;RankSumP=0.441823;SB=-132.78;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1433T>C;refseq.codonCoord=478;refseq.end=52466612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1640;refseq.name=NM_015603;refseq.name2=CCDC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L478P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=242;refseq.start=52466612;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr19 52514878 . G A 210.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1425.42;QD=41.92;RankSumP=1.00000;SB=-184.22;SecondBestBaseQ=0;set=Intersection GT 1/1 chr19 52515324 . T C 170.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=98.06;MQ0=0;OQ=6585.06;QD=35.40;RankSumP=1.00000;SB=-2502.34;SecondBestBaseQ=0;set=Intersection GT 1/1 chr19 52515711 . G T 202.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=497;Dels=0.00;HRun=0;HaplotypeScore=13.73;MQ=98.77;MQ0=0;OQ=18328.58;QD=36.88;RankSumP=1.00000;SB=-6085.74;SecondBestBaseQ=0;set=Intersection GT 1/1 chr19 52536875 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.979A>C;refseq.codonCoord=327;refseq.end=52536875;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_018485;refseq.name2=GPR77;refseq.positionType=CDS;refseq.proteinCoordStr=p.T327P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-238;refseq.start=52536875;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 52548176 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.66;MQ0=0;OQ=1108.58;QD=11.43;RankSumP=0.102990;SB=-292.70;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.49C>T;refseq.codonCoord=17;refseq.end=52548176;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=398;refseq.name=NM_014681;refseq.name2=DHX34;refseq.positionType=CDS;refseq.proteinCoordStr=p.R17W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=326;refseq.start=52548176;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr19 52557755 . G A 388.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=98.78;MQ0=0;OQ=4977.36;QD=40.80;RankSumP=1.00000;SB=-2224.76;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1554G>A;refseq.codonCoord=518;refseq.end=52557755;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1903;refseq.name=NM_014681;refseq.name2=DHX34;refseq.positionType=CDS;refseq.proteinCoordStr=p.P518P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-40;refseq.start=52557755;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr19 52571077 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=95.77;MQ0=0;OQ=2371.44;QD=27.57;RankSumP=1.00000;SB=-617.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2406A>G;refseq.codonCoord=802;refseq.end=52571077;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2755;refseq.name=NM_014681;refseq.name2=DHX34;refseq.positionType=CDS;refseq.proteinCoordStr=p.L802L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-76;refseq.start=52571077;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 52627470 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2155C>G;refseq.codonCoord=719;refseq.end=52627470;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2433;refseq.name=NM_015063;refseq.name2=SLC8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P719A;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=45;refseq.start=52627470;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr19 52661206 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=475;Dels=0.00;HRun=1;HaplotypeScore=5.07;MQ=98.64;MQ0=0;OQ=10087.37;QD=21.24;RankSumP=0.175290;SB=-4131.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.267C>T;refseq.codonCoord=89;refseq.end=52661206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=545;refseq.name=NM_015063;refseq.name2=SLC8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I89I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=283;refseq.start=52661206;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 52661363 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.125000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.110A>C;refseq.codonCoord=37;refseq.end=52661363;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=388;refseq.name=NM_015063;refseq.name2=SLC8A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D37A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=126;refseq.start=52661363;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 52670483 . G A 134.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.48;MQ0=0;OQ=1132.02;QD=13.16;RankSumP=0.236142;SB=-332.32;SecondBestBaseQ=25;refseq.chr=chr19;refseq.codingCoordStr=c.*2C>T;refseq.end=52670483;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=1417;refseq.name=NM_007059;refseq.name2=KPTN;refseq.positionType=utr3;refseq.spliceDist=131;refseq.start=52670483;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr19 52911741 . G A 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=139.04;QD=11.59;RankSumP=0.607143;SB=-84.29;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.60G>A;refseq.codonCoord=20;refseq.end=52911741;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=310;refseq.name=NM_014601;refseq.name2=EHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T20T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=115;refseq.start=52911741;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr19 52920981 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.78;MQ0=0;OQ=682.42;QD=15.87;RankSumP=0.528601;SB=-183.62;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.603A>G;refseq.codonCoord=201;refseq.end=52920981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=853;refseq.name=NM_014601;refseq.name2=EHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S201S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=101;refseq.start=52920981;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 52936006 . A G 274.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=2102.10;QD=38.22;RankSumP=1.00000;SB=-943.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1137A>G;refseq.codonCoord=379;refseq.end=52936006;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1387;refseq.name=NM_014601;refseq.name2=EHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L379L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=57;refseq.start=52936006;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 52936381 . G A 255.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.17;MQ0=0;OQ=1421.05;QD=37.40;RankSumP=1.00000;SB=-670.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1512G>A;refseq.codonCoord=504;refseq.end=52936381;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1762;refseq.name=NM_014601;refseq.name2=EHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E504E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=432;refseq.start=52936381;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 52940646 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.28;MQ0=0;OQ=612.43;QD=10.04;RankSumP=0.690676;SB=-303.35;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.18T>C;refseq.codonCoord=6;refseq.end=52940646;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=42;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S6S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=42;refseq.start=52940646;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr19 52940719 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=47;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.39;MQ0=0;OQ=772.47;QD=16.44;RankSumP=0.709718;SB=-173.81;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.91G>C;refseq.codonCoord=31;refseq.end=52940719;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=115;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D31H;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=115;refseq.start=52940719;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr19 52946611 . T C 204.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=8.55;MQ=98.93;MQ0=0;OQ=4135.60;QD=15.72;RankSumP=0.391446;SB=-1642.69;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=52946611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=645;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V207V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=23;refseq.start=52946611;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 52947616 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=10.24;MQ=97.95;MQ0=0;OQ=768.13;QD=8.26;RankSumP=0.338070;SB=-42.66;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.705A>G;refseq.codonCoord=235;refseq.end=52947616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=729;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A235A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=36;refseq.start=52947616;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 52950584 rs11083895 G A 46.13 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.07;SB=-45.55;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1221G>A;refseq.codonCoord=407;refseq.end=52950584;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1245;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G407G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=52950584;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,2:2:-8.02,-0.60,-0.00:6.02 chr19 52951012 . A G 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=98.05;MQ0=0;OQ=68.15;QD=6.81;RankSumP=0.319444;SB=-10.00;SecondBestBaseQ=25;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.end_1=52951586;refseq.end_2=52951012;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=91;refseq.name2_1=GLTSCR2;refseq.name2_2=SNORD23;refseq.name_1=NM_015710;refseq.name_2=NR_003048;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-20;refseq.start_1=52950902;refseq.start_2=52951012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 0/1 chr19 52951599 . C T 151.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.35;MQ0=0;OQ=1524.94;QD=17.73;RankSumP=0.133953;SB=-425.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1299C>T;refseq.codonCoord=433;refseq.end=52951599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1323;refseq.name=NM_015710;refseq.name2=GLTSCR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P433P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=52951599;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 52997466 . C T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.614G>A;refseq.codonCoord=205;refseq.end=52997466;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_198479;refseq.name2=TPRX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G205D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=584;refseq.start=52997466;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/1 chr19 53081237 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=852;Dels=0.00;HRun=0;HaplotypeScore=18.20;MQ=98.90;MQ0=0;OQ=33185.30;QD=38.95;RankSumP=1.00000;SB=-11014.02;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.90T>C;refseq.codonCoord=30;refseq.end=53081237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_003167;refseq.name2=SULT2A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F30F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-47;refseq.start=53081237;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 53229397 . A G 367.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=98.82;MQ0=0;OQ=5200.62;QD=18.91;RankSumP=0.0433514;SB=-2206.79;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.383T>C;refseq.codonCoord=128;refseq.end=53229397;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_019855;refseq.name2=CABP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V128A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=53229397;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr19 53235674 . G A 273.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.71;MQ0=0;OQ=6506.45;QD=41.71;RankSumP=1.00000;SB=-2595.75;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.238C>T;refseq.codonCoord=80;refseq.end=53235674;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_019855;refseq.name2=CABP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L80L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=53235674;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr19 53235735 . C A 237.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.93;MQ0=0;OQ=2350.58;QD=17.94;RankSumP=0.410746;SB=-650.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.177G>T;refseq.codonCoord=59;refseq.end=53235735;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_019855;refseq.name2=CABP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T59T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-62;refseq.start=53235735;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 53262884 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=5.32;MQ=98.27;MQ0=0;OQ=1220.61;QD=13.71;RankSumP=0.225928;SB=-605.82;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1108A>C;refseq.codingCoordStr_2=c.1078A>C;refseq.codingCoordStr_3=c.1078A>C;refseq.codonCoord_1=370;refseq.codonCoord_2=360;refseq.codonCoord_3=360;refseq.end_1=53262884;refseq.end_2=53262884;refseq.end_3=53262884;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1445;refseq.mrnaCoord_2=1476;refseq.mrnaCoord_3=1476;refseq.name2_1=PLA2G4C;refseq.name2_2=PLA2G4C;refseq.name2_3=PLA2G4C;refseq.name_1=NM_001159322;refseq.name_2=NM_001159323;refseq.name_3=NM_003706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T370P;refseq.proteinCoordStr_2=p.T360P;refseq.proteinCoordStr_3=p.T360P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=53262884;refseq.start_2=53262884;refseq.start_3=53262884;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr19 53290635 . A G 240.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=2.57;MQ=99.00;MQ0=0;OQ=2689.36;QD=16.50;RankSumP=0.254073;SB=-1289.56;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.637T>C;refseq.codingCoordStr_2=c.607T>C;refseq.codingCoordStr_3=c.607T>C;refseq.codonCoord_1=213;refseq.codonCoord_2=203;refseq.codonCoord_3=203;refseq.end_1=53290635;refseq.end_2=53290635;refseq.end_3=53290635;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=974;refseq.mrnaCoord_2=1005;refseq.mrnaCoord_3=1005;refseq.name2_1=PLA2G4C;refseq.name2_2=PLA2G4C;refseq.name2_3=PLA2G4C;refseq.name_1=NM_001159322;refseq.name_2=NM_001159323;refseq.name_3=NM_003706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S213P;refseq.proteinCoordStr_2=p.S203P;refseq.proteinCoordStr_3=p.S203P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.spliceDist_3=39;refseq.start_1=53290635;refseq.start_2=53290635;refseq.start_3=53290635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 0/1 chr19 53293266 . T C 205.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=11.36;MQ=98.23;MQ0=0;OQ=12904.56;QD=35.65;RankSumP=1.00000;SB=-2100.50;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.540A>G;refseq.codingCoordStr_2=c.510A>G;refseq.codingCoordStr_3=c.510A>G;refseq.codonCoord_1=180;refseq.codonCoord_2=170;refseq.codonCoord_3=170;refseq.end_1=53293266;refseq.end_2=53293266;refseq.end_3=53293266;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=877;refseq.mrnaCoord_2=908;refseq.mrnaCoord_3=908;refseq.name2_1=PLA2G4C;refseq.name2_2=PLA2G4C;refseq.name2_3=PLA2G4C;refseq.name_1=NM_001159322;refseq.name_2=NM_001159323;refseq.name_3=NM_003706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P180P;refseq.proteinCoordStr_2=p.P170P;refseq.proteinCoordStr_3=p.P170P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.spliceDist_3=-59;refseq.start_1=53293266;refseq.start_2=53293266;refseq.start_3=53293266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr19 53312848 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=98.74;MQ0=0;OQ=1746.96;QD=15.60;RankSumP=0.240179;SB=-750.27;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2442G>C;refseq.codonCoord=814;refseq.end=53312848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2562;refseq.name=NM_000234;refseq.name2=LIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A814A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=53312848;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr19 53314239 . A G 127.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.18;MQ0=0;OQ=535.05;QD=13.38;RankSumP=0.582855;SB=-218.56;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2406T>C;refseq.codonCoord=802;refseq.end=53314239;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2526;refseq.name=NM_000234;refseq.name2=LIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D802D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=21;refseq.start=53314239;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 53330782 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1490A>G;refseq.codonCoord=497;refseq.end=53330782;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1610;refseq.name=NM_000234;refseq.name2=LIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E497G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-34;refseq.start=53330782;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 53335058 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.352608;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1069G>T;refseq.codonCoord=357;refseq.end=53335058;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_000234;refseq.name2=LIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A357S;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-19;refseq.start=53335058;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chr19 53346365 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=5.12;MQ=98.93;MQ0=0;OQ=2475.35;QD=11.57;RankSumP=0.328888;SB=-1140.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.510C>A;refseq.codonCoord=170;refseq.end=53346365;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_000234;refseq.name2=LIG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A170A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=44;refseq.start=53346365;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr19 53406965 . T C 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=12.29;MQ=98.84;MQ0=0;OQ=13184.28;QD=42.12;RankSumP=1.00000;SB=-4717.56;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1110A>G;refseq.codonCoord=370;refseq.end=53406965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1423;refseq.name=NM_014959;refseq.name2=CARD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q370Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=80;refseq.start=53406965;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr19 53425929 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=135;Dels=0.00;HRun=3;HaplotypeScore=5.75;MQ=98.02;MQ0=0;OQ=87.18;QD=0.65;RankSumP=0.00000;SB=251.81;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.374T>G;refseq.codonCoord=125;refseq.end=53425929;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_014959;refseq.name2=CARD8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V125G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-84;refseq.start=53425929;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 53492150 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=98.02;MQ0=0;OQ=2113.90;QD=30.20;RankSumP=1.00000;SB=-245.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1908T>C;refseq.codonCoord=636;refseq.end=53492150;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2591;refseq.name=NM_144577;refseq.name2=CCDC114;refseq.positionType=CDS;refseq.proteinCoordStr=p.S636S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=438;refseq.start=53492150;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr19 53492563 . C A 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.13;MQ0=0;OQ=134.14;QD=10.32;RankSumP=0.471639;SB=-75.86;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1495G>T;refseq.codonCoord=499;refseq.end=53492563;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2178;refseq.name=NM_144577;refseq.name2=CCDC114;refseq.positionType=CDS;refseq.proteinCoordStr=p.A499S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=25;refseq.start=53492563;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr19 53492726 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=15.87;MQ=98.28;MQ0=0;OQ=337.72;QD=6.37;RankSumP=0.740866;SB=-79.86;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1403C>T;refseq.codonCoord=468;refseq.end=53492726;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2086;refseq.name=NM_144577;refseq.name2=CCDC114;refseq.positionType=CDS;refseq.proteinCoordStr=p.P468L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=12;refseq.start=53492726;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 53497827 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=921.07;QD=12.12;RankSumP=0.183022;SB=-469.88;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1065G>A;refseq.codonCoord=355;refseq.end=53497827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1748;refseq.name=NM_144577;refseq.name2=CCDC114;refseq.positionType=CDS;refseq.proteinCoordStr=p.S355S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-65;refseq.start=53497827;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 53498805 . A C 14.11 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.93;MQ0=0;QD=0.35;RankSumP=2.68166e-05;SB=47.18;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.791T>G;refseq.codonCoord=264;refseq.end=53498805;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1474;refseq.name=NM_144577;refseq.name2=CCDC114;refseq.positionType=CDS;refseq.proteinCoordStr=p.V264G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=49;refseq.start=53498805;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 53528485 . G T 373.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.77;MQ0=0;OQ=4395.38;QD=35.45;RankSumP=1.00000;SB=-1469.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1183C>A;refseq.codonCoord=395;refseq.end=53528485;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1192;refseq.name=NM_018273;refseq.name2=TMEM143;refseq.positionType=CDS;refseq.proteinCoordStr=p.R395R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=18;refseq.start=53528485;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr19 53555198 . C T 307.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=12.52;MQ=97.99;MQ0=0;OQ=4820.92;QD=20.00;RankSumP=0.302116;SB=-1544.96;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.312G>A;refseq.codonCoord=104;refseq.end=53555198;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_018273;refseq.name2=TMEM143;refseq.positionType=CDS;refseq.proteinCoordStr=p.S104S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=48;refseq.start=53555198;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 53579461 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=122;Dels=0.00;HRun=2;HaplotypeScore=13.05;MQ=98.33;MQ0=0;OQ=130.36;QD=1.07;RankSumP=0.00000;SB=197.62;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.442A>C;refseq.codonCoord=148;refseq.end=53579461;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=637;refseq.name=NM_006801;refseq.name2=KDELR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T148P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=91;refseq.start=53579461;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 53586341 . G A 20.32 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.69;RankSumP=0.555556;SB=-30.60;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.87C>T;refseq.codonCoord=29;refseq.end=53586341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_006801;refseq.name2=KDELR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C29C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=53586341;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr19 53637245 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2467T>G;refseq.codonCoord=823;refseq.end=53637245;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2555;refseq.name=NM_000836;refseq.name2=GRIN2D;refseq.positionType=CDS;refseq.proteinCoordStr=p.W823G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=27;refseq.start=53637245;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 53641098 . G T 38.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.43;MQ0=0;OQ=560.37;QD=25.47;RankSumP=1.00000;SB=-269.71;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.24G>T;refseq.codonCoord=8;refseq.end=53641098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_031485;refseq.name2=GRWD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R8R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-164;refseq.start=53641098;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr19 53659827 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=355;Dels=0.00;HRun=0;HaplotypeScore=14.44;MQ=98.64;MQ0=0;OQ=5876.11;QD=16.55;RankSumP=3.79406e-07;SB=-2311.58;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1292C>T;refseq.codingCoordStr_2=c.1292C>T;refseq.codonCoord_1=431;refseq.codonCoord_2=431;refseq.end_1=53659827;refseq.end_2=53659827;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1697;refseq.mrnaCoord_2=1768;refseq.name2_1=KCNJ14;refseq.name2_2=KCNJ14;refseq.name_1=NM_013348;refseq.name_2=NM_170720;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A431V;refseq.proteinCoordStr_2=p.A431V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=578;refseq.spliceDist_2=578;refseq.start_1=53659827;refseq.start_2=53659827;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=filterInsoap-gatk GT 0/1 chr19 53771058 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=623;Dels=0.00;HRun=0;HaplotypeScore=16.32;MQ=98.53;MQ0=0;OQ=12537.38;QD=20.12;RankSumP=0.0429806;SB=-5383.52;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.75C>T;refseq.codingCoordStr_2=c.120C>T;refseq.codonCoord_1=25;refseq.codonCoord_2=40;refseq.end_1=53771058;refseq.end_2=53771058;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=254;refseq.mrnaCoord_2=201;refseq.name2_1=SULT2B1;refseq.name2_2=SULT2B1;refseq.name_1=NM_004605;refseq.name_2=NM_177973;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P25P;refseq.proteinCoordStr_2=p.P40P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-95;refseq.spliceDist_2=49;refseq.start_1=53771058;refseq.start_2=53771058;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr19 53787877 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=635.25;QD=16.29;RankSumP=0.265746;SB=-177.67;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.592C>T;refseq.codingCoordStr_2=c.637C>T;refseq.codonCoord_1=198;refseq.codonCoord_2=213;refseq.end_1=53787877;refseq.end_2=53787877;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=771;refseq.mrnaCoord_2=718;refseq.name2_1=SULT2B1;refseq.name2_2=SULT2B1;refseq.name_1=NM_004605;refseq.name_2=NM_177973;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L198L;refseq.proteinCoordStr_2=p.L213L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=53787877;refseq.start_2=53787877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr19 53794211 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=99.00;MQ0=0;OQ=248.03;QD=9.19;RankSumP=0.660814;SB=-29.60;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.789C>T;refseq.codingCoordStr_2=c.834C>T;refseq.codonCoord_1=263;refseq.codonCoord_2=278;refseq.end_1=53794211;refseq.end_2=53794211;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=968;refseq.mrnaCoord_2=915;refseq.name2_1=SULT2B1;refseq.name2_2=SULT2B1;refseq.name_1=NM_004605;refseq.name_2=NM_177973;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C263C;refseq.proteinCoordStr_2=p.C278C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=53794211;refseq.start_2=53794211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr19 53798807 . G A 37.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=5.35;RankSumP=0.638889;SB=-10.00;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.932C>T;refseq.codonCoord=311;refseq.end=53798807;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=997;refseq.name=NM_017708;refseq.name2=FAM83E;refseq.positionType=CDS;refseq.proteinCoordStr=p.P311L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=174;refseq.start=53798807;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/0 chr19 53808171 . T C 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=97.12;MQ0=0;QD=0.94;RankSumP=0.581356;SB=53.18;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.271A>G;refseq.codonCoord=91;refseq.end=53808171;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_017708;refseq.name2=FAM83E;refseq.positionType=CDS;refseq.proteinCoordStr=p.T91A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-195;refseq.start=53808171;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr19 53808250 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=5.52;MQ=98.13;MQ0=0;OQ=2286.58;QD=11.21;RankSumP=0.417097;SB=-1056.07;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.192T>C;refseq.codonCoord=64;refseq.end=53808250;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_017708;refseq.name2=FAM83E;refseq.positionType=CDS;refseq.proteinCoordStr=p.V64V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=257;refseq.start=53808250;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 53808367 . A G 108.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.45;MQ0=0;OQ=1135.18;QD=33.39;RankSumP=1.00000;SB=-279.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.75T>C;refseq.codonCoord=25;refseq.end=53808367;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_017708;refseq.name2=FAM83E;refseq.positionType=CDS;refseq.proteinCoordStr=p.F25F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=140;refseq.start=53808367;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr19 53824446 . G A 168.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.50;MQ0=0;OQ=367.40;QD=17.50;RankSumP=0.724416;SB=-94.91;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1569G>A;refseq.codonCoord=523;refseq.end=53824446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1935;refseq.name=NM_020126;refseq.name2=SPHK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L523L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=697;refseq.start=53824446;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr19 53856764 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=4.29;MQ=98.05;MQ0=0;OQ=703.84;QD=10.35;RankSumP=0.108391;SB=-141.72;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.1452T>C;refseq.codonCoord_2=484;refseq.end_1=53858255;refseq.end_2=53856764;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1548;refseq.name2_1=SEC1;refseq.name2_2=NTN5;refseq.name_1=NR_004401;refseq.name_2=NM_145807;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S484S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGT;refseq.spliceDist_2=-289;refseq.start_1=53833226;refseq.start_2=53856764;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr19 53898229 . A G 406.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.85;MQ0=0;OQ=4101.73;QD=38.70;RankSumP=1.00000;SB=-1188.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.204A>G;refseq.codingCoordStr_2=c.204A>G;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=53898229;refseq.end_2=53898229;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=325;refseq.mrnaCoord_2=315;refseq.name2_1=FUT2;refseq.name2_2=FUT2;refseq.name_1=NM_000511;refseq.name_2=NM_001097638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A68A;refseq.proteinCoordStr_2=p.A68A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=206;refseq.spliceDist_2=206;refseq.start_1=53898229;refseq.start_2=53898229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr19 53898274 . C T 95.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=71.03;MQ0=25;OQ=2909.41;QD=29.69;RankSumP=1.00000;SB=-1294.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.249C>T;refseq.codingCoordStr_2=c.249C>T;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.end_1=53898274;refseq.end_2=53898274;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=370;refseq.mrnaCoord_2=360;refseq.name2_1=FUT2;refseq.name2_2=FUT2;refseq.name_1=NM_000511;refseq.name_2=NM_001097638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y83Y;refseq.proteinCoordStr_2=p.Y83Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=251;refseq.spliceDist_2=251;refseq.start_1=53898274;refseq.start_2=53898274;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr19 53898486 . G A 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=8.62;MQ=86.08;MQ0=3;OQ=3655.10;QD=30.21;RankSumP=1.00000;SB=-689.64;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.461G>A;refseq.codingCoordStr_2=c.461G>A;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=53898486;refseq.end_2=53898486;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=582;refseq.mrnaCoord_2=572;refseq.name2_1=FUT2;refseq.name2_2=FUT2;refseq.name_1=NM_000511;refseq.name_2=NM_001097638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W154*;refseq.proteinCoordStr_2=p.W154*;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=463;refseq.spliceDist_2=463;refseq.start_1=53898486;refseq.start_2=53898486;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=Intersection GT 1/1 chr19 53898797 . G A 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=662;Dels=0.00;HRun=0;HaplotypeScore=23.75;MQ=98.69;MQ0=0;OQ=26887.05;QD=40.61;RankSumP=1.00000;SB=-11325.80;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.772G>A;refseq.codingCoordStr_2=c.772G>A;refseq.codonCoord_1=258;refseq.codonCoord_2=258;refseq.end_1=53898797;refseq.end_2=53898797;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=893;refseq.mrnaCoord_2=883;refseq.name2_1=FUT2;refseq.name2_2=FUT2;refseq.name_1=NM_000511;refseq.name_2=NM_001097638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G258S;refseq.proteinCoordStr_2=p.G258S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=774;refseq.spliceDist_2=774;refseq.start_1=53898797;refseq.start_2=53898797;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr19 53899018 . A G 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=219;Dels=0.00;HRun=3;HaplotypeScore=11.05;MQ=98.00;MQ0=0;OQ=7545.58;QD=34.45;RankSumP=1.00000;SB=-2615.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.993A>G;refseq.codingCoordStr_2=c.993A>G;refseq.codonCoord_1=331;refseq.codonCoord_2=331;refseq.end_1=53899018;refseq.end_2=53899018;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=1104;refseq.name2_1=FUT2;refseq.name2_2=FUT2;refseq.name_1=NM_000511;refseq.name_2=NM_001097638;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T331T;refseq.proteinCoordStr_2=p.T331T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=995;refseq.spliceDist_2=995;refseq.start_1=53899018;refseq.start_2=53899018;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 53908419 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=66;Dels=0.00;HRun=1;HaplotypeScore=3.20;MQ=98.86;MQ0=0;OQ=589.49;QD=8.93;RankSumP=0.134818;SB=-56.23;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1165C>T;refseq.codingCoordStr_2=c.856C>T;refseq.codonCoord_1=389;refseq.codonCoord_2=286;refseq.end_1=53908419;refseq.end_2=53908419;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1227;refseq.mrnaCoord_2=1471;refseq.name2_1=MAMSTR;refseq.name2_2=MAMSTR;refseq.name_1=NM_001130915;refseq.name_2=NM_182574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P389S;refseq.proteinCoordStr_2=p.P286S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=201;refseq.spliceDist_2=201;refseq.start_1=53908419;refseq.start_2=53908419;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr19 53909073 . A G 123.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=684.15;QD=31.10;RankSumP=1.00000;SB=-338.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.765T>C;refseq.codingCoordStr_2=c.456T>C;refseq.codonCoord_1=255;refseq.codonCoord_2=152;refseq.end_1=53909073;refseq.end_2=53909073;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=1071;refseq.name2_1=MAMSTR;refseq.name2_2=MAMSTR;refseq.name_1=NM_001130915;refseq.name_2=NM_182574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R255R;refseq.proteinCoordStr_2=p.R152R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=53909073;refseq.start_2=53909073;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 53909923 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.41;MQ0=0;OQ=380.59;QD=8.85;RankSumP=0.0160262;SB=-180.12;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.480C>A;refseq.codingCoordStr_2=c.171C>A;refseq.codonCoord_1=160;refseq.codonCoord_2=57;refseq.end_1=53909923;refseq.end_2=53909923;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=542;refseq.mrnaCoord_2=786;refseq.name2_1=MAMSTR;refseq.name2_2=MAMSTR;refseq.name_1=NM_001130915;refseq.name_2=NM_182574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P160P;refseq.proteinCoordStr_2=p.P57P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=53909923;refseq.start_2=53909923;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr19 53910414 . C T 205.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.05;MQ0=0;OQ=373.61;QD=37.36;RankSumP=1.00000;SB=-79.10;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.342G>A;refseq.codingCoordStr_2=c.33G>A;refseq.codonCoord_1=114;refseq.codonCoord_2=11;refseq.end_1=53910414;refseq.end_2=53910414;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=404;refseq.mrnaCoord_2=648;refseq.name2_1=MAMSTR;refseq.name2_2=MAMSTR;refseq.name_1=NM_001130915;refseq.name_2=NM_182574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A114A;refseq.proteinCoordStr_2=p.A11A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.start_1=53910414;refseq.start_2=53910414;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr19 53924038 . G A 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.54;MQ0=0;OQ=136.11;QD=27.22;RankSumP=1.00000;SB=-93.11;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1801C>T;refseq.codonCoord=601;refseq.end=53924038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1998;refseq.name=NM_017805;refseq.name2=RASIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R601C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-33;refseq.start=53924038;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=filterInsoap-gatk GT 1/1 chr19 53930531 . C T 31.32 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=3.48;SB=-32.62;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.913G>A;refseq.codonCoord=305;refseq.end=53930531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_017805;refseq.name2=RASIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G305R;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=90;refseq.start=53930531;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:7,2:8:-8.83,-2.41,-20.38:64.16 chr19 53936031 . C A 341.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.89;MQ0=0;OQ=5202.87;QD=37.16;RankSumP=1.00000;SB=-1611.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.999G>T;refseq.codonCoord=333;refseq.end=53936031;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1547;refseq.name=NM_182575;refseq.name2=IZUMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A333A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=67;refseq.start=53936031;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr19 53936032 . G A 435.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.89;MQ0=0;OQ=5715.44;QD=41.42;RankSumP=1.00000;SB=-1568.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.998C>T;refseq.codonCoord=333;refseq.end=53936032;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1546;refseq.name=NM_182575;refseq.name2=IZUMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A333V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=66;refseq.start=53936032;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 53939598 . G A 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=194;Dels=0.00;HRun=2;HaplotypeScore=11.56;MQ=98.97;MQ0=0;OQ=8198.85;QD=42.26;RankSumP=1.00000;SB=-2933.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=53939598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_182575;refseq.name2=IZUMO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F107F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=11;refseq.start=53939598;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr19 53951341 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=96.17;MQ0=0;OQ=2103.00;QD=36.26;RankSumP=1.00000;SB=-868.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.36A>G;refseq.codonCoord=12;refseq.end=53951341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_019113;refseq.name2=FGF21;refseq.positionType=CDS;refseq.proteinCoordStr=p.G12G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=186;refseq.start=53951341;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr19 53953180 . T C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=3;HaplotypeScore=1.76;MQ=96.89;MQ0=0;OQ=599.47;QD=35.26;RankSumP=1.00000;SB=-215.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.521T>C;refseq.codonCoord=174;refseq.end=53953180;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_019113;refseq.name2=FGF21;refseq.positionType=CDS;refseq.proteinCoordStr=p.L174P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=182;refseq.start=53953180;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 53994882 . G C 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=107.44;QD=26.86;RankSumP=0.666667;SB=-55.46;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.281C>G;refseq.codingCoordStr_4=c.557C>G;refseq.codonCoord_3=94;refseq.codonCoord_4=186;refseq.end_1=53994882;refseq.end_2=53994882;refseq.end_3=53994882;refseq.end_4=53994882;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1094;refseq.mrnaCoord_2=646;refseq.mrnaCoord_3=337;refseq.mrnaCoord_4=613;refseq.name2_1=BCAT2;refseq.name2_2=BCAT2;refseq.name2_3=BCAT2;refseq.name2_4=BCAT2;refseq.name_1=NR_028450;refseq.name_2=NR_028451;refseq.name_3=NM_001164773;refseq.name_4=NM_001190;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T94R;refseq.proteinCoordStr_4=p.T186R;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.start_1=53994882;refseq.start_2=53994882;refseq.start_3=53994882;refseq.start_4=53994882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 0/1 chr19 53995088 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.217A>C;refseq.codingCoordStr_4=c.493A>C;refseq.codonCoord_3=73;refseq.codonCoord_4=165;refseq.end_1=53995088;refseq.end_2=53995088;refseq.end_3=53995088;refseq.end_4=53995088;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1030;refseq.mrnaCoord_2=582;refseq.mrnaCoord_3=273;refseq.mrnaCoord_4=549;refseq.name2_1=BCAT2;refseq.name2_2=BCAT2;refseq.name2_3=BCAT2;refseq.name2_4=BCAT2;refseq.name_1=NR_028450;refseq.name_2=NR_028451;refseq.name_3=NM_001164773;refseq.name_4=NM_001190;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.T73P;refseq.proteinCoordStr_4=p.T165P;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.spliceDist_4=-39;refseq.start_1=53995088;refseq.start_2=53995088;refseq.start_3=53995088;refseq.start_4=53995088;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr19 54026803 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=98.69;MQ0=0;OQ=1831.87;QD=15.52;RankSumP=0.484354;SB=-735.25;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.303G>A;refseq.codonCoord=101;refseq.end=54026803;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=569;refseq.name=NM_016246;refseq.name2=HSD17B14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E101E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=26;refseq.start=54026803;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr19 54030910 . T C 117.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.58;MQ0=0;OQ=1487.82;QD=18.83;RankSumP=1.34539e-06;SB=-648.98;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.91A>G;refseq.codonCoord=31;refseq.end=54030910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_016246;refseq.name2=HSD17B14;refseq.positionType=CDS;refseq.proteinCoordStr=p.N31D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=54030910;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/0 chr19 54060633 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.135954;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.131G>A;refseq.codingCoordStr_2=c.131G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.end_1=54060633;refseq.end_2=54060633;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=682;refseq.mrnaCoord_2=682;refseq.name2_1=PLEKHA4;refseq.name2_2=PLEKHA4;refseq.name_1=NM_001161354;refseq.name_2=NM_020904;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G44D;refseq.proteinCoordStr_2=p.G44D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=54060633;refseq.start_2=54060633;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=FilteredInAll GT 0/1 chr19 54060655 . T C 164.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=4.62;MQ=98.61;MQ0=0;OQ=2320.30;QD=16.69;RankSumP=0.305739;SB=-594.87;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.109A>G;refseq.codingCoordStr_2=c.109A>G;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=54060655;refseq.end_2=54060655;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=660;refseq.name2_1=PLEKHA4;refseq.name2_2=PLEKHA4;refseq.name_1=NM_001161354;refseq.name_2=NM_020904;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I37V;refseq.proteinCoordStr_2=p.I37V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=54060655;refseq.start_2=54060655;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr19 54068396 . G A 151.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=98.75;MQ0=0;OQ=938.79;QD=16.76;RankSumP=0.635867;SB=-458.50;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.94G>A;refseq.codonCoord=32;refseq.end=54068396;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A32T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=103;refseq.start=54068396;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 54069131 . A G 272.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.71;MQ0=0;OQ=1451.01;QD=17.70;RankSumP=0.0294643;SB=-699.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.829A>G;refseq.codonCoord=277;refseq.end=54069131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K277E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-837;refseq.start=54069131;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr19 54069236 . G A 142.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.69;MQ0=0;OQ=1391.18;QD=17.84;RankSumP=0.117636;SB=-496.02;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.934G>A;refseq.codonCoord=312;refseq.end=54069236;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G312S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-732;refseq.start=54069236;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr19 54069248 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=8.62;MQ=98.67;MQ0=0;OQ=1187.59;QD=17.73;RankSumP=0.491808;SB=-381.37;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.946G>C;refseq.codonCoord=316;refseq.end=54069248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A316P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-720;refseq.start=54069248;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 54069685 . G A 137.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.78;MQ0=0;OQ=1806.64;QD=15.44;RankSumP=0.122950;SB=-820.52;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1383G>A;refseq.codonCoord=461;refseq.end=54069685;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L461L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-283;refseq.start=54069685;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/0 chr19 54069730 . G T 103.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=98.72;MQ0=0;OQ=1335.66;QD=14.52;RankSumP=0.191678;SB=-464.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1428G>T;refseq.codonCoord=476;refseq.end=54069730;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1697;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R476S;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-238;refseq.start=54069730;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr19 54070806 . A G 146.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=95.20;MQ0=0;OQ=342.08;QD=20.12;RankSumP=0.419780;SB=-71.90;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1789A>G;refseq.codonCoord=597;refseq.end=54070806;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2058;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T597A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=124;refseq.start=54070806;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 54070979 . C T 100.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=97.45;MQ0=0;OQ=810.70;QD=12.67;RankSumP=0.431241;SB=-241.51;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1962C>T;refseq.codonCoord=654;refseq.end=54070979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2231;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A654A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-153;refseq.start=54070979;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr19 54070994 . G C 99.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=96.90;MQ0=0;OQ=999.59;QD=13.88;RankSumP=0.259012;SB=-482.74;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1977G>C;refseq.codonCoord=659;refseq.end=54070994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2246;refseq.name=NM_014330;refseq.name2=PPP1R15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S659S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-138;refseq.start=54070994;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 54078836 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1262T>C;refseq.codonCoord=421;refseq.end=54078836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1413;refseq.name=NM_003323;refseq.name2=TULP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V421A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-14;refseq.start=54078836;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr19 54099472 . G A 173.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.53;MQ0=0;OQ=945.68;QD=15.01;RankSumP=0.00943837;SB=-367.44;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.192G>A;refseq.codonCoord=64;refseq.end=54099472;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=205;refseq.name=NM_006184;refseq.name2=NUCB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T64T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-52;refseq.start=54099472;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 1/0 chr19 54160899 . T C 134.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=13.42;MQ=91.72;MQ0=0;OQ=3686.88;QD=36.50;RankSumP=1.00000;SB=-1121.79;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.163T>C;refseq.codonCoord=55;refseq.end=54160899;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_000146;refseq.name2=FTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L55L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=61;refseq.start=54160899;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 54161798 . C T 70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=93.87;MQ0=0;OQ=150.42;QD=16.71;RankSumP=0.547619;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.522C>T;refseq.codonCoord=174;refseq.end=54161798;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=721;refseq.name=NM_000146;refseq.name2=FTL;refseq.positionType=CDS;refseq.proteinCoordStr=p.H174H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=147;refseq.start=54161798;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr19 54177360 . G A 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=306;Dels=0.00;HRun=2;HaplotypeScore=2.92;MQ=98.81;MQ0=0;OQ=12533.44;QD=40.96;RankSumP=1.00000;SB=-4320.45;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.834C>T;refseq.codingCoordStr_3=c.1026C>T;refseq.codonCoord_2=278;refseq.codonCoord_3=342;refseq.end_1=54177360;refseq.end_2=54177360;refseq.end_3=54177360;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1085;refseq.mrnaCoord_2=1075;refseq.mrnaCoord_3=1267;refseq.name2_1=GYS1;refseq.name2_2=GYS1;refseq.name2_3=GYS1;refseq.name_1=NR_027763;refseq.name_2=NM_001161587;refseq.name_3=NM_002103;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F278F;refseq.proteinCoordStr_3=p.F342F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=54177360;refseq.start_2=54177360;refseq.start_3=54177360;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr19 54205085 . C T 260.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=5.87;MQ=98.67;MQ0=0;OQ=6323.31;QD=35.72;RankSumP=1.00000;SB=-2697.58;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.613C>T;refseq.codonCoord=205;refseq.end=54205085;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=626;refseq.name=NM_006666;refseq.name2=RUVBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L205L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=44;refseq.start=54205085;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr19 54211278 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=13.24;MQ=98.06;MQ0=0;OQ=3059.91;QD=13.54;RankSumP=0.210560;SB=-1068.53;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.285T>C;refseq.codonCoord=95;refseq.end=54211278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_000894;refseq.name2=LHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G95G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=102;refseq.start=54211278;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr19 54211667 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=312;Dels=0.00;HRun=3;HaplotypeScore=19.66;MQ=86.50;MQ0=19;OQ=1894.76;QD=6.07;RankSumP=0.345101;SB=-939.04;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.132A>C;refseq.codonCoord=44;refseq.end=54211667;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=141;refseq.name=NM_000894;refseq.name2=LHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P44P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-52;refseq.start=54211667;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 54211685 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=7.50;MQ=88.07;MQ0=15;OQ=4357.28;QD=14.06;RankSumP=0.0986662;SB=-1753.32;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.114C>G;refseq.codonCoord=38;refseq.end=54211685;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_000894;refseq.name2=LHB;refseq.positionType=CDS;refseq.proteinCoordStr=p.V38V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-70;refseq.start=54211685;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 54218003 . G A 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.450C>T;refseq.codonCoord=150;refseq.end=54218003;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_000737;refseq.name2=CGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S150S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-65;refseq.start=54218003;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 1/0 chr19 54228202 . C A 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=20.74;MQ0=137;OQ=225.30;QD=1.10;RankSumP=0.534632;SB=35.14;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.404C>A;refseq.codonCoord=135;refseq.end=54228202;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=627;refseq.name=NM_033378;refseq.name2=CGB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A135D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-106;refseq.start=54228202;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr19 54231372 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.105150;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.10A>G;refseq.codonCoord=4;refseq.end=54231372;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_033377;refseq.name2=CGB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R4G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=54231372;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr19 54240303 . C G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.554196;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.438C>G;refseq.codonCoord=146;refseq.end=54240303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_033043;refseq.name2=CGB5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P146P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-78;refseq.start=54240303;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr19 54249384 . T C 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.537250;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.474A>G;refseq.codonCoord=158;refseq.end=54249384;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_033142;refseq.name2=CGB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S158S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-42;refseq.start=54249384;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=soap GT 1/0 chr19 54250022 rs34828725 A G 19.04 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=62.85;MQ0=17;QD=0.09;SB=182.58;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.71T>C;refseq.codonCoord=24;refseq.end=54250022;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_033142;refseq.name2=CGB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.M24T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=56;refseq.start=54250022;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:189,15:163:-54.29,-49.11,-607.39:51.82 chr19 54250023 . T G 19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=62.92;MQ0=17;OQ=86.82;QD=0.42;RankSumP=0.171793;SB=176.47;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.70A>C;refseq.codonCoord=24;refseq.end=54250023;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_033142;refseq.name2=CGB7;refseq.positionType=CDS;refseq.proteinCoordStr=p.M24L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=55;refseq.start=54250023;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/0 chr19 54265250 . A G 160.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=97.72;MQ0=0;OQ=1698.83;QD=13.70;RankSumP=0.149005;SB=-382.15;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1253T>C;refseq.codonCoord=418;refseq.end=54265250;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1609;refseq.name=NM_031886;refseq.name2=KCNA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.M418T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=698;refseq.start=54265250;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr19 54265937 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=7.32;MQ=98.32;MQ0=0;OQ=1151.72;QD=13.88;RankSumP=0.158075;SB=-334.93;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.566C>G;refseq.codonCoord=189;refseq.end=54265937;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_031886;refseq.name2=KCNA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P189R;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=11;refseq.start=54265937;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr19 54303131 . C T 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.07;MQ0=0;OQ=140.06;QD=10.00;RankSumP=0.389433;SB=-82.30;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.933C>T;refseq.codonCoord=311;refseq.end=54303131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1372;refseq.name=NM_003089;refseq.name2=SNRNP70;refseq.positionType=CDS;refseq.proteinCoordStr=p.G311G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=268;refseq.start=54303131;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 54313776 . T C 185.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=99.00;MQ0=0;OQ=2765.49;QD=34.14;RankSumP=1.00000;SB=-1406.43;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.316A>G;refseq.codonCoord=106;refseq.end=54313776;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_018111;refseq.name2=C19orf73;refseq.positionType=CDS;refseq.proteinCoordStr=p.S106G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-311;refseq.start=54313776;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr19 54328218 . T G 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00621722;SecondBestBaseQ=18;refseq.chr=chr19;refseq.codingCoordStr=c.1026+2;refseq.end=54328218;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_003660;refseq.name2=PPFIA3;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=54328218;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr19 54331814 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.50;MQ0=0;OQ=455.81;QD=12.66;RankSumP=0.718921;SB=-124.44;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1687G>T;refseq.codonCoord=563;refseq.end=54331814;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2019;refseq.name=NM_003660;refseq.name2=PPFIA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A563S;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=22;refseq.start=54331814;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 54348995 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1312G>C;refseq.codonCoord=438;refseq.end=54348995;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1499;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A438P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-520;refseq.start=54348995;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 54349432 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.875A>C;refseq.codonCoord=292;refseq.end=54349432;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.D292A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-957;refseq.start=54349432;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr19 54349701 . T C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0189853;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.606A>G;refseq.codonCoord=202;refseq.end=54349701;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E202E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=793;refseq.start=54349701;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr19 54349728 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00220618;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.579A>G;refseq.codonCoord=193;refseq.end=54349728;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=766;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.E193E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=766;refseq.start=54349728;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chr19 54349852 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.455T>C;refseq.codonCoord=152;refseq.end=54349852;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=642;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L152P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=642;refseq.start=54349852;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 54350021 . A C 364.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=9.37;MQ=98.89;MQ0=0;OQ=6350.80;QD=19.07;RankSumP=0.109454;SB=-2331.88;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.286T>G;refseq.codonCoord=96;refseq.end=54350021;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=473;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S96A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=473;refseq.start=54350021;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 54350179 . C T 106.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=273;Dels=0.00;HRun=1;HaplotypeScore=10.60;MQ=98.68;MQ0=0;OQ=5106.83;QD=18.71;RankSumP=0.278348;SB=-914.99;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.128G>A;refseq.codonCoord=43;refseq.end=54350179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S43N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=315;refseq.start=54350179;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr19 54350202 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=2;HaplotypeScore=5.70;MQ=98.45;MQ0=0;OQ=2612.33;QD=14.76;RankSumP=0.431048;SB=-398.90;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.105A>G;refseq.codonCoord=35;refseq.end=54350202;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=292;refseq.name=NM_002152;refseq.name2=HRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L35L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=292;refseq.start=54350202;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 54397107 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3028A>C;refseq.codonCoord=1010;refseq.end=54397107;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3100;refseq.name=NM_017636;refseq.name2=TRPM4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1010P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=75;refseq.start=54397107;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 54530827 . T C 120.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.87;MQ0=0;OQ=1007.80;QD=13.26;RankSumP=0.164412;SB=-444.03;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.-91T>C;refseq.codingCoordStr_2=c.114T>C;refseq.codonCoord_2=38;refseq.end_1=54530827;refseq.end_2=54530827;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=201;refseq.mrnaCoord_2=235;refseq.name2_1=CD37;refseq.name2_2=CD37;refseq.name_1=NM_001040031;refseq.name_2=NM_001774;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I38I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=54530827;refseq.start_2=54530827;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr19 54559725 . G A 322.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=5.07;MQ=98.84;MQ0=0;OQ=2436.83;QD=19.34;RankSumP=0.353585;SB=-1016.64;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.85G>A;refseq.codonCoord=29;refseq.end=54559725;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_014419;refseq.name2=DKKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A29T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=75;refseq.start=54559725;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr19 54560863 . T G 156.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=98.93;MQ0=0;OQ=2851.20;QD=15.01;RankSumP=0.109451;SB=-1030.04;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.326T>G;refseq.codonCoord=109;refseq.end=54560863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_014419;refseq.name2=DKKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M109R;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=54560863;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chr19 54569927 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.32;MQ0=0;OQ=371.76;QD=9.07;RankSumP=0.495680;SB=-22.47;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.559G>A;refseq.codonCoord=187;refseq.end=54569927;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_014419;refseq.name2=DKKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G187S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=142;refseq.start=54569927;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr19 54570008 . G A 111.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=2;HaplotypeScore=4.77;MQ=98.43;MQ0=0;OQ=4065.55;QD=19.93;RankSumP=0.133072;SB=-1120.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.640G>A;refseq.codonCoord=214;refseq.end=54570008;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_014419;refseq.name2=DKKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E214K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-178;refseq.start=54570008;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr19 54642110 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=6.65;MQ=98.94;MQ0=0;OQ=584.49;QD=11.03;RankSumP=0.525987;SB=-262.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.670G>A;refseq.codonCoord=224;refseq.end=54642110;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=954;refseq.name=NM_017916;refseq.name2=PIH1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V224I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-18;refseq.start=54642110;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr19 54642168 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=1.21;MQ=99.00;MQ0=0;OQ=606.60;QD=16.85;RankSumP=0.595464;SB=-290.47;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.612G>C;refseq.codonCoord=204;refseq.end=54642168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=896;refseq.name=NM_017916;refseq.name2=PIH1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G204G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=54642168;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 54646615 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=293.64;QD=12.23;RankSumP=0.113651;SB=-120.62;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.29G>A;refseq.codonCoord=10;refseq.end=54646615;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_017916;refseq.name2=PIH1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G10E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-62;refseq.start=54646615;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr19 54646619 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=268.40;QD=12.20;RankSumP=0.240436;SB=-100.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.25A>C;refseq.codonCoord=9;refseq.end=54646619;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=309;refseq.name=NM_017916;refseq.name2=PIH1D1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M9L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-66;refseq.start=54646619;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 54656789 . C G 253.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.54;MQ0=0;OQ=1084.09;QD=19.36;RankSumP=0.479951;SB=-540.60;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.679C>G;refseq.codingCoordStr_2=c.679C>G;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.end_1=54656789;refseq.end_2=54656789;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=795;refseq.mrnaCoord_2=795;refseq.name2_1=ALDH16A1;refseq.name2_2=ALDH16A1;refseq.name_1=NM_001145396;refseq.name_2=NM_153329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L227V;refseq.proteinCoordStr_2=p.L227V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=54656789;refseq.start_2=54656789;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/0 chr19 54659492 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=99.00;MQ0=0;OQ=700.63;QD=19.46;RankSumP=0.0709717;SB=-327.32;SecondBestBaseQ=25;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1185G>A;refseq.codingCoordStr_2=c.1338G>A;refseq.codonCoord_1=395;refseq.codonCoord_2=446;refseq.end_1=54659492;refseq.end_2=54659492;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1301;refseq.mrnaCoord_2=1454;refseq.name2_1=ALDH16A1;refseq.name2_2=ALDH16A1;refseq.name_1=NM_001145396;refseq.name_2=NM_153329;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q395Q;refseq.proteinCoordStr_2=p.Q446Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=54659492;refseq.start_2=54659492;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr19 54785060 . A T 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=60.47;QD=10.08;RankSumP=0.200000;SB=-46.38;SecondBestBaseQ=35;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.529A>T;refseq.codonCoord=177;refseq.end=54785060;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=694;refseq.name=NM_000951;refseq.name2=PRRG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T177S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-62;refseq.start=54785060;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr19 54831904 . G A 390.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=98.47;MQ0=0;OQ=8239.22;QD=38.68;RankSumP=1.00000;SB=-3145.62;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.333C>T;refseq.codonCoord=111;refseq.end=54831904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=378;refseq.name=NM_006270;refseq.name2=RRAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.N111N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=54831904;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 54848708 . T C 38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=99.00;MQ0=0;OQ=593.37;QD=26.97;RankSumP=1.00000;SB=-147.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.3250T>C;refseq.codonCoord=1084;refseq.end=54848708;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3374;refseq.name=NM_021228;refseq.name2=SCAF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1084L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-67;refseq.start=54848708;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 54857313 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=1.28634e-07;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.686T>G;refseq.codonCoord=229;refseq.end=54857313;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_001571;refseq.name2=IRF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V229G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=85;refseq.start=54857313;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 54879140 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.555+2;refseq.codingCoordStr_3=c.501+2;refseq.codingCoordStr_4=c.483+2;refseq.end_1=54879140;refseq.end_2=54879140;refseq.end_3=54879140;refseq.end_4=54879140;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=PRMT1;refseq.name2_2=PRMT1;refseq.name2_3=PRMT1;refseq.name2_4=PRMT1;refseq.name_1=NR_033397;refseq.name_2=NM_001536;refseq.name_3=NM_198318;refseq.name_4=NM_198319;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.spliceInfo_4=splice-donor_2;refseq.start_1=54879140;refseq.start_2=54879140;refseq.start_3=54879140;refseq.start_4=54879140;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=FilteredInAll GT 1/0 chr19 54940313 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=166;Dels=0.00;HRun=3;HaplotypeScore=5.78;MQ=98.62;MQ0=0;OQ=2482.16;QD=14.95;RankSumP=0.350429;SB=-1190.21;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1145A>G;refseq.codonCoord=382;refseq.end=54940313;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_021733;refseq.name2=TSKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.D382G;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-43;refseq.start=54940313;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 54941717 . T C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=99.00;MQ0=0;OQ=133.52;QD=7.85;RankSumP=0.310023;SB=-30.67;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.814A>G;refseq.codonCoord=272;refseq.end=54941717;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_021733;refseq.name2=TSKS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S272G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=151;refseq.start=54941717;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 55025194 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=2.96892e-09;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.726G>C;refseq.codonCoord=242;refseq.end=55025194;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=789;refseq.name=NM_030973;refseq.name2=MED25;refseq.positionType=CDS;refseq.proteinCoordStr=p.K242N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=38;refseq.start=55025194;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chr19 55052850 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.803A>G;refseq.codonCoord=268;refseq.end=55052850;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=973;refseq.name=NM_017432;refseq.name2=PTOV1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E268G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=55052850;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 55075403 . A G 168.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=9.82;MQ=98.83;MQ0=0;OQ=11100.01;QD=38.54;RankSumP=1.00000;SB=-5439.02;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.152A>G;refseq.codingCoordStr_2=c.251A>G;refseq.codonCoord_1=51;refseq.codonCoord_2=84;refseq.end_1=55075403;refseq.end_2=55075403;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=451;refseq.mrnaCoord_2=550;refseq.name2_1=TBC1D17;refseq.name2_2=TBC1D17;refseq.name_1=NM_001168222;refseq.name_2=NM_024682;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D51G;refseq.proteinCoordStr_2=p.D84G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=55075403;refseq.start_2=55075403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr19 55103554 . A G 265.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=98.54;MQ0=0;OQ=12380.08;QD=35.99;RankSumP=1.00000;SB=-3748.93;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.1323T>C;refseq.codingCoordStr_3=c.1323T>C;refseq.codingCoordStr_4=c.1323T>C;refseq.codingCoordStr_5=c.1323T>C;refseq.codonCoord_2=441;refseq.codonCoord_3=441;refseq.codonCoord_4=441;refseq.codonCoord_5=441;refseq.end_1=55122752;refseq.end_2=55103554;refseq.end_3=55103554;refseq.end_4=55103554;refseq.end_5=55103554;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1580;refseq.mrnaCoord_3=1726;refseq.mrnaCoord_4=1604;refseq.mrnaCoord_5=1759;refseq.name2_1=IL4I1;refseq.name2_2=NUP62;refseq.name2_3=NUP62;refseq.name2_4=NUP62;refseq.name2_5=NUP62;refseq.name_1=NM_172374;refseq.name_2=NM_012346;refseq.name_3=NM_016553;refseq.name_4=NM_153718;refseq.name_5=NM_153719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.D441D;refseq.proteinCoordStr_3=p.D441D;refseq.proteinCoordStr_4=p.D441D;refseq.proteinCoordStr_5=p.D441D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.spliceDist_2=1400;refseq.spliceDist_3=1400;refseq.spliceDist_4=1400;refseq.spliceDist_5=1400;refseq.start_1=55099401;refseq.start_2=55103554;refseq.start_3=55103554;refseq.start_4=55103554;refseq.start_5=55103554;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 1/1 chr19 55104029 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=18;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=93.24;MQ0=0;OQ=355.50;QD=19.75;RankSumP=0.340297;SB=-170.79;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.848G>C;refseq.codingCoordStr_3=c.848G>C;refseq.codingCoordStr_4=c.848G>C;refseq.codingCoordStr_5=c.848G>C;refseq.codonCoord_2=283;refseq.codonCoord_3=283;refseq.codonCoord_4=283;refseq.codonCoord_5=283;refseq.end_1=55122752;refseq.end_2=55104029;refseq.end_3=55104029;refseq.end_4=55104029;refseq.end_5=55104029;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=1105;refseq.mrnaCoord_3=1251;refseq.mrnaCoord_4=1129;refseq.mrnaCoord_5=1284;refseq.name2_1=IL4I1;refseq.name2_2=NUP62;refseq.name2_3=NUP62;refseq.name2_4=NUP62;refseq.name2_5=NUP62;refseq.name_1=NM_172374;refseq.name_2=NM_012346;refseq.name_3=NM_016553;refseq.name_4=NM_153718;refseq.name_5=NM_153719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S283T;refseq.proteinCoordStr_3=p.S283T;refseq.proteinCoordStr_4=p.S283T;refseq.proteinCoordStr_5=p.S283T;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_2=925;refseq.spliceDist_3=925;refseq.spliceDist_4=925;refseq.spliceDist_5=925;refseq.start_1=55099401;refseq.start_2=55104029;refseq.start_3=55104029;refseq.start_4=55104029;refseq.start_5=55104029;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;set=Intersection GT 1/0 chr19 55104229 . G A 283 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=98.47;MQ0=0;OQ=2273.06;QD=32.94;RankSumP=1.00000;SB=-639.65;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.648C>T;refseq.codingCoordStr_3=c.648C>T;refseq.codingCoordStr_4=c.648C>T;refseq.codingCoordStr_5=c.648C>T;refseq.codonCoord_2=216;refseq.codonCoord_3=216;refseq.codonCoord_4=216;refseq.codonCoord_5=216;refseq.end_1=55122752;refseq.end_2=55104229;refseq.end_3=55104229;refseq.end_4=55104229;refseq.end_5=55104229;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=905;refseq.mrnaCoord_3=1051;refseq.mrnaCoord_4=929;refseq.mrnaCoord_5=1084;refseq.name2_1=IL4I1;refseq.name2_2=NUP62;refseq.name2_3=NUP62;refseq.name2_4=NUP62;refseq.name2_5=NUP62;refseq.name_1=NM_172374;refseq.name_2=NM_012346;refseq.name_3=NM_016553;refseq.name_4=NM_153718;refseq.name_5=NM_153719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S216S;refseq.proteinCoordStr_3=p.S216S;refseq.proteinCoordStr_4=p.S216S;refseq.proteinCoordStr_5=p.S216S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.spliceDist_2=725;refseq.spliceDist_3=725;refseq.spliceDist_4=725;refseq.spliceDist_5=725;refseq.start_1=55099401;refseq.start_2=55104229;refseq.start_3=55104229;refseq.start_4=55104229;refseq.start_5=55104229;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 1/1 chr19 55104730 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_2=c.147A>C;refseq.codingCoordStr_3=c.147A>C;refseq.codingCoordStr_4=c.147A>C;refseq.codingCoordStr_5=c.147A>C;refseq.codonCoord_2=49;refseq.codonCoord_3=49;refseq.codonCoord_4=49;refseq.codonCoord_5=49;refseq.end_1=55122752;refseq.end_2=55104730;refseq.end_3=55104730;refseq.end_4=55104730;refseq.end_5=55104730;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=404;refseq.mrnaCoord_3=550;refseq.mrnaCoord_4=428;refseq.mrnaCoord_5=583;refseq.name2_1=IL4I1;refseq.name2_2=NUP62;refseq.name2_3=NUP62;refseq.name2_4=NUP62;refseq.name2_5=NUP62;refseq.name_1=NM_172374;refseq.name_2=NM_012346;refseq.name_3=NM_016553;refseq.name_4=NM_153718;refseq.name_5=NM_153719;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.Q49H;refseq.proteinCoordStr_3=p.Q49H;refseq.proteinCoordStr_4=p.Q49H;refseq.proteinCoordStr_5=p.Q49H;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.spliceDist_2=224;refseq.spliceDist_3=224;refseq.spliceDist_4=224;refseq.spliceDist_5=224;refseq.start_1=55099401;refseq.start_2=55104730;refseq.start_3=55104730;refseq.start_4=55104730;refseq.start_5=55104730;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;set=FilteredInAll GT 1/0 chr19 55127559 . T C 94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=108;Dels=0.01;HRun=3;HaplotypeScore=0.95;MQ=98.04;MQ0=0;OQ=4143.17;QD=38.36;RankSumP=1.00000;SB=-634.24;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.247T>C;refseq.codonCoord=83;refseq.end=55127559;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_012068;refseq.name2=ATF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L83L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=69;refseq.start=55127559;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr19 55127674 . C T 254.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=99.00;MQ0=0;OQ=406.13;QD=33.84;RankSumP=1.00000;SB=-111.63;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.362C>T;refseq.codonCoord=121;refseq.end=55127674;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_012068;refseq.name2=ATF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P121L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=184;refseq.start=55127674;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=filterInsoap-gatk GT 1/1 chr19 55153772 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1303A>C;refseq.codingCoordStr_2=c.1303A>C;refseq.codonCoord_1=435;refseq.codonCoord_2=435;refseq.end_1=55153772;refseq.end_2=55153772;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1394;refseq.mrnaCoord_2=1394;refseq.name2_1=SIGLEC11;refseq.name2_2=SIGLEC11;refseq.name_1=NM_001135163;refseq.name_2=NM_052884;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T435P;refseq.proteinCoordStr_2=p.T435P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=55153772;refseq.start_2=55153772;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr19 55554580 . C T 298.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=95.99;MQ0=2;OQ=2634.92;QD=15.59;RankSumP=0.0222398;SB=-1335.90;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.928G>A;refseq.codonCoord=310;refseq.end=55554580;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_004851;refseq.name2=NAPSA;refseq.positionType=CDS;refseq.proteinCoordStr=p.A310T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=55554580;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr19 55573637 . G A 57 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00655838;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.519G>A;refseq.codonCoord=173;refseq.end=55573637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=795;refseq.name=NM_007121;refseq.name2=NR1H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q173Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=47;refseq.start=55573637;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr19 55573644 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.0931389;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.526G>C;refseq.codonCoord=176;refseq.end=55573644;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_007121;refseq.name2=NR1H2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E176Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=54;refseq.start=55573644;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=soap GT 0/1 chr19 55602107 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1550A>C;refseq.codonCoord=517;refseq.end=55602107;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1606;refseq.name=NM_002691;refseq.name2=POLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y517S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=56;refseq.start=55602107;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr19 55617938 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=5.45;MQ=97.13;MQ0=0;OQ=784.84;QD=12.46;RankSumP=0.192997;SB=-378.89;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.171C>T;refseq.codonCoord=57;refseq.end=55617938;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_003121;refseq.name2=SPIB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P57P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=47;refseq.start=55617938;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 55618076 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=123;Dels=0.00;HRun=3;HaplotypeScore=7.78;MQ=97.44;MQ0=0;OQ=520.10;QD=4.23;RankSumP=0.406078;SB=-244.24;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=55618076;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_003121;refseq.name2=SPIB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-31;refseq.start=55618076;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr19 55618077 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=6.78;MQ=97.41;MQ0=0;OQ=654.52;QD=5.41;RankSumP=0.384976;SB=-266.96;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.310G>C;refseq.codonCoord=104;refseq.end=55618077;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_003121;refseq.name2=SPIB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A104P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-30;refseq.start=55618077;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 55670409 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.476A>C;refseq.codonCoord=159;refseq.end=55670409;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_138411;refseq.name2=FAM71E1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H159P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-16;refseq.start=55670409;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 55675742 . C T 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=11.32;MQ=97.73;MQ0=0;OQ=937.54;QD=24.67;RankSumP=1.00000;SB=-423.66;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.495C>T;refseq.codingCoordStr_2=c.495C>T;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=55675742;refseq.end_2=55675742;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=561;refseq.mrnaCoord_2=561;refseq.name2_1=C19orf63;refseq.name2_2=C19orf63;refseq.name_1=NM_175063;refseq.name_2=NM_206538;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P165P;refseq.proteinCoordStr_2=p.P165P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.start_1=55675742;refseq.start_2=55675742;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 55707216 . T C 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=120.40;QD=24.08;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.482A>G;refseq.codingCoordStr_2=c.797A>G;refseq.codonCoord_1=161;refseq.codonCoord_2=266;refseq.end_1=55707216;refseq.end_2=55707216;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=663;refseq.mrnaCoord_2=859;refseq.name2_1=ASPDH;refseq.name2_2=ASPDH;refseq.name_1=NM_001024656;refseq.name_2=NM_001114598;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q161R;refseq.proteinCoordStr_2=p.Q266R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=55707216;refseq.start_2=55707216;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=filterInsoap-gatk GT 1/1 chr19 55712715 . A G 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=6.03;MQ=98.33;MQ0=0;OQ=1231.52;QD=23.68;RankSumP=1.00000;SB=-390.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2067T>C;refseq.codonCoord=689;refseq.end=55712715;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2204;refseq.name=NM_001080457;refseq.name2=LRRC4B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P689P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-754;refseq.start=55712715;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 55820473 . T C 41.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=301.21;QD=33.47;RankSumP=1.00000;SB=-99.93;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1563A>G;refseq.codingCoordStr_2=c.1563A>G;refseq.codingCoordStr_3=c.1563A>G;refseq.codonCoord_1=521;refseq.codonCoord_2=521;refseq.codonCoord_3=521;refseq.end_1=55820473;refseq.end_2=55820473;refseq.end_3=55820473;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2126;refseq.mrnaCoord_2=1762;refseq.mrnaCoord_3=2197;refseq.name2_1=SYT3;refseq.name2_2=SYT3;refseq.name2_3=SYT3;refseq.name_1=NM_001160328;refseq.name_2=NM_001160329;refseq.name_3=NM_032298;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V521V;refseq.proteinCoordStr_2=p.V521V;refseq.proteinCoordStr_3=p.V521V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.start_1=55820473;refseq.start_2=55820473;refseq.start_3=55820473;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=Intersection GT 1/1 chr19 55825168 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.68;MQ0=0;OQ=1248.09;QD=21.15;RankSumP=0.0920138;SB=-556.88;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.747G>C;refseq.codingCoordStr_2=c.747G>C;refseq.codingCoordStr_3=c.747G>C;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.codonCoord_3=249;refseq.end_1=55825168;refseq.end_2=55825168;refseq.end_3=55825168;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1310;refseq.mrnaCoord_2=946;refseq.mrnaCoord_3=1381;refseq.name2_1=SYT3;refseq.name2_2=SYT3;refseq.name2_3=SYT3;refseq.name_1=NM_001160328;refseq.name_2=NM_001160329;refseq.name_3=NM_032298;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R249R;refseq.proteinCoordStr_2=p.R249R;refseq.proteinCoordStr_3=p.R249R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.spliceDist_3=73;refseq.start_1=55825168;refseq.start_2=55825168;refseq.start_3=55825168;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=Intersection GT 1/0 chr19 55857187 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.6333T>G;refseq.codonCoord=2111;refseq.end=55857187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6352;refseq.name=NM_016148;refseq.name2=SHANK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2111G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-292;refseq.start=55857187;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 55857197 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.6323A>G;refseq.codonCoord=2108;refseq.end=55857197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=6342;refseq.name=NM_016148;refseq.name2=SHANK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E2108G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-302;refseq.start=55857197;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 55862518 . A G 31.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.59;RankSumP=0.666667;SB=-40.94;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4511T>C;refseq.codonCoord=1504;refseq.end=55862518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4530;refseq.name=NM_016148;refseq.name2=SHANK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1504A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1258;refseq.start=55862518;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=soap-filterIngatk GT 0/1 chr19 55862768 . C G 10.49 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=3.50;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.4261G>C;refseq.codonCoord=1421;refseq.end=55862768;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4280;refseq.name=NM_016148;refseq.name2=SHANK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1421R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-1508;refseq.start=55862768;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:2,1:1:-4.29,-0.30,-0.00:1.76 chr19 55920446 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=6.91;MQ=98.42;MQ0=0;OQ=975.06;QD=16.53;RankSumP=0.269320;SB=-398.91;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.882G>A;refseq.codonCoord=294;refseq.end=55920446;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_002975;refseq.name2=CLEC11A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E294E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-348;refseq.start=55920446;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr19 55966663 . A C 0.10 PASS AC=1;AF=0.50;AN=2;DP=431;Dels=0.00;HRun=1;HaplotypeScore=11.09;MQ=36.70;MQ0=200;OQ=1198.43;QD=2.78;SB=-222.02;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.994A>C;refseq.codonCoord=332;refseq.end=55966663;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=994;refseq.name=NM_001506;refseq.name2=GPR32;refseq.positionType=CDS;refseq.proteinCoordStr=p.T332P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-78;refseq.start=55966663;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=gatk GT:AD:DP:GL:GQ 0/1:344,87:216:-188.17,-65.05,-641.75:99 chr19 55989896 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1028A>C;refseq.codonCoord=343;refseq.end=55989896;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1028;refseq.name=NM_033068;refseq.name2=ACPT;refseq.positionType=CDS;refseq.proteinCoordStr=p.H343P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=42;refseq.start=55989896;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 56015285 . C G 106.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=2;HaplotypeScore=9.77;MQ=98.55;MQ0=0;OQ=5842.44;QD=20.72;RankSumP=3.82488e-08;SB=-2458.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.433G>C;refseq.codonCoord=145;refseq.end=56015285;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=472;refseq.name=NM_002257;refseq.name2=KLK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E145Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-64;refseq.start=56015285;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/0 chr19 56015313 . A G 347.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=8.02;MQ=98.86;MQ0=0;OQ=4727.85;QD=17.19;RankSumP=0.200836;SB=-1757.21;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.405T>C;refseq.codonCoord=135;refseq.end=56015313;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_002257;refseq.name2=KLK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D135D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-92;refseq.start=56015313;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 56053127 . C T 266.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=237;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=98.58;MQ0=0;OQ=4750.51;QD=20.04;RankSumP=0.0315493;SB=-1944.92;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.237C>T;refseq.codingCoordStr_3=c.237C>T;refseq.codingCoordStr_4=c.237C>T;refseq.codonCoord_2=79;refseq.codonCoord_3=79;refseq.codonCoord_4=79;refseq.end_1=56053215;refseq.end_2=56053127;refseq.end_3=56053127;refseq.end_4=56053127;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=278;refseq.mrnaCoord_3=278;refseq.mrnaCoord_4=278;refseq.name2_1=KLK3;refseq.name2_2=KLK3;refseq.name2_3=KLK3;refseq.name2_4=KLK3;refseq.name_1=NM_001030048;refseq.name_2=NM_001030047;refseq.name_3=NM_001030049;refseq.name_4=NM_001648;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.S79S;refseq.proteinCoordStr_3=p.S79S;refseq.proteinCoordStr_4=p.S79S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_2=31;refseq.spliceDist_3=31;refseq.spliceDist_4=31;refseq.start_1=56051478;refseq.start_2=56053127;refseq.start_3=56053127;refseq.start_4=56053127;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr19 56071682 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.349T>C;refseq.codingCoordStr_2=c.349T>C;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.end_1=56071682;refseq.end_2=56071682;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=390;refseq.name2_1=KLK2;refseq.name2_2=KLK2;refseq.name_1=NM_001002231;refseq.name_2=NM_005551;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S117P;refseq.proteinCoordStr_2=p.S117P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=143;refseq.spliceDist_2=143;refseq.start_1=56071682;refseq.start_2=56071682;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr19 56071705 . C T 237.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=5.41;MQ=98.45;MQ0=0;OQ=3112.65;QD=15.41;RankSumP=0.499541;SB=-1484.49;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.372C>T;refseq.codingCoordStr_2=c.372C>T;refseq.codonCoord_1=124;refseq.codonCoord_2=124;refseq.end_1=56071705;refseq.end_2=56071705;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=413;refseq.mrnaCoord_2=413;refseq.name2_1=KLK2;refseq.name2_2=KLK2;refseq.name_1=NM_001002231;refseq.name_2=NM_005551;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L124L;refseq.proteinCoordStr_2=p.L124L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-122;refseq.spliceDist_2=-122;refseq.start_1=56071705;refseq.start_2=56071705;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 0/1 chr19 56103448 . G T 83.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=449;Dels=0.00;HRun=1;HaplotypeScore=10.74;MQ=98.47;MQ0=0;OQ=16806.75;QD=37.43;RankSumP=1.00000;SB=-6775.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.591C>A;refseq.codonCoord=197;refseq.end=56103448;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=591;refseq.name=NM_004917;refseq.name2=KLK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H197Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-22;refseq.start=56103448;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 56144062 . T C 349.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=98.81;MQ0=0;OQ=7868.97;QD=36.43;RankSumP=1.00000;SB=-3743.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.457A>G;refseq.codingCoordStr_2=c.457A>G;refseq.codingCoordStr_3=c.457A>G;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.codonCoord_3=153;refseq.end_1=56144062;refseq.end_2=56144062;refseq.end_3=56144062;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=675;refseq.mrnaCoord_2=607;refseq.mrnaCoord_3=810;refseq.name2_1=KLK5;refseq.name2_2=KLK5;refseq.name2_3=KLK5;refseq.name_1=NM_001077491;refseq.name_2=NM_001077492;refseq.name_3=NM_012427;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N153D;refseq.proteinCoordStr_2=p.N153D;refseq.proteinCoordStr_3=p.N153D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.spliceDist_3=122;refseq.start_1=56144062;refseq.start_2=56144062;refseq.start_3=56144062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr19 56177434 . A G 112.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=98.56;MQ0=0;OQ=1313.06;QD=12.75;RankSumP=0.468642;SB=-628.16;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.34T>C;refseq.codingCoordStr_2=c.34T>C;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=56177434;refseq.end_2=56177434;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=136;refseq.mrnaCoord_2=136;refseq.name2_1=KLK7;refseq.name2_2=KLK7;refseq.name_1=NM_005046;refseq.name_2=NM_139277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L12L;refseq.proteinCoordStr_2=p.L12L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=-40;refseq.spliceDist_2=-40;refseq.start_1=56177434;refseq.start_2=56177434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr19 56198832 . T G 254.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=1;HaplotypeScore=7.01;MQ=98.58;MQ0=0;OQ=10080.30;QD=38.33;RankSumP=1.00000;SB=-5006.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.543A>C;refseq.codonCoord=181;refseq.end=56198832;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_012315;refseq.name2=KLK9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G181G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-61;refseq.start=56198832;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr19 56211048 . A G 151.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=557.70;QD=34.86;RankSumP=1.00000;SB=-213.72;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.446T>C;refseq.codingCoordStr_2=c.446T>C;refseq.codingCoordStr_3=c.446T>C;refseq.codonCoord_1=149;refseq.codonCoord_2=149;refseq.codonCoord_3=149;refseq.end_1=56211048;refseq.end_2=56211048;refseq.end_3=56211048;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=566;refseq.mrnaCoord_2=665;refseq.mrnaCoord_3=527;refseq.name2_1=KLK10;refseq.name2_2=KLK10;refseq.name2_3=KLK10;refseq.name_1=NM_001077500;refseq.name_2=NM_002776;refseq.name_3=NM_145888;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L149P;refseq.proteinCoordStr_2=p.L149P;refseq.proteinCoordStr_3=p.L149P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.spliceDist_3=-99;refseq.start_1=56211048;refseq.start_2=56211048;refseq.start_3=56211048;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr19 56211071 . C T 32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=95.63;MQ0=0;OQ=642.83;QD=33.83;RankSumP=1.00000;SB=-305.68;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.423G>A;refseq.codingCoordStr_2=c.423G>A;refseq.codingCoordStr_3=c.423G>A;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.end_1=56211071;refseq.end_2=56211071;refseq.end_3=56211071;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=543;refseq.mrnaCoord_2=642;refseq.mrnaCoord_3=504;refseq.name2_1=KLK10;refseq.name2_2=KLK10;refseq.name2_3=KLK10;refseq.name_1=NM_001077500;refseq.name_2=NM_002776;refseq.name_3=NM_145888;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L141L;refseq.proteinCoordStr_2=p.L141L;refseq.proteinCoordStr_3=p.L141L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-122;refseq.spliceDist_2=-122;refseq.spliceDist_3=-122;refseq.start_1=56211071;refseq.start_2=56211071;refseq.start_3=56211071;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;set=Intersection GT 1/1 chr19 56211158 . G C 218.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=916.66;QD=41.67;RankSumP=1.00000;SB=-260.51;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.336C>G;refseq.codingCoordStr_2=c.336C>G;refseq.codingCoordStr_3=c.336C>G;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.codonCoord_3=112;refseq.end_1=56211158;refseq.end_2=56211158;refseq.end_3=56211158;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=456;refseq.mrnaCoord_2=555;refseq.mrnaCoord_3=417;refseq.name2_1=KLK10;refseq.name2_2=KLK10;refseq.name2_3=KLK10;refseq.name_1=NM_001077500;refseq.name_2=NM_002776;refseq.name_3=NM_145888;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T112T;refseq.proteinCoordStr_2=p.T112T;refseq.proteinCoordStr_3=p.T112T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.start_1=56211158;refseq.start_2=56211158;refseq.start_3=56211158;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr19 56211176 . T G 144.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.61;MQ0=0;OQ=743.29;QD=33.79;RankSumP=1.00000;SB=-372.13;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.318A>C;refseq.codingCoordStr_2=c.318A>C;refseq.codingCoordStr_3=c.318A>C;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.codonCoord_3=106;refseq.end_1=56211176;refseq.end_2=56211176;refseq.end_3=56211176;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=438;refseq.mrnaCoord_2=537;refseq.mrnaCoord_3=399;refseq.name2_1=KLK10;refseq.name2_2=KLK10;refseq.name2_3=KLK10;refseq.name_1=NM_001077500;refseq.name_2=NM_002776;refseq.name_3=NM_145888;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G106G;refseq.proteinCoordStr_2=p.G106G;refseq.proteinCoordStr_3=p.G106G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=56211176;refseq.start_2=56211176;refseq.start_3=56211176;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr19 56212299 . A C 95.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=97.50;MQ0=0;OQ=1078.02;QD=30.80;RankSumP=1.00000;SB=-351.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.148T>G;refseq.codingCoordStr_2=c.148T>G;refseq.codingCoordStr_3=c.148T>G;refseq.codonCoord_1=50;refseq.codonCoord_2=50;refseq.codonCoord_3=50;refseq.end_1=56212299;refseq.end_2=56212299;refseq.end_3=56212299;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=268;refseq.mrnaCoord_2=367;refseq.mrnaCoord_3=229;refseq.name2_1=KLK10;refseq.name2_2=KLK10;refseq.name2_3=KLK10;refseq.name_1=NM_001077500;refseq.name_2=NM_002776;refseq.name_3=NM_145888;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S50A;refseq.proteinCoordStr_2=p.S50A;refseq.proteinCoordStr_3=p.S50A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=56212299;refseq.start_2=56212299;refseq.start_3=56212299;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr19 56226942 . A G 308.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.75;MQ0=0;OQ=2203.59;QD=17.08;RankSumP=0.0687760;SB=-1046.20;SecondBestBaseQ=28;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.457+2;refseq.codingCoordStr_3=c.457+2;refseq.end_1=56229037;refseq.end_2=56226942;refseq.end_3=56226942;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=KLK12;refseq.name2_2=KLK12;refseq.name2_3=KLK12;refseq.name_1=NM_145895;refseq.name_2=NM_019598;refseq.name_3=NM_145894;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceInfo_2=splice-donor_2;refseq.spliceInfo_3=splice-donor_2;refseq.start_1=56226000;refseq.start_2=56226942;refseq.start_3=56226942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 0/1 chr19 56294110 . C G 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=177.87;QD=17.79;RankSumP=0.547619;SB=-57.92;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.607G>C;refseq.codonCoord=203;refseq.end=56294110;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=672;refseq.name=NM_145232;refseq.name2=CTU1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E203Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=99;refseq.start=56294110;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 56320341 . A G 323.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=488;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=98.31;MQ0=0;OQ=8027.59;QD=16.45;RankSumP=0.340757;SB=-2008.94;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.298A>G;refseq.codonCoord=100;refseq.end=56320341;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_014441;refseq.name2=SIGLEC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.K100E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-124;refseq.start=56320341;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr19 56322294 . C A 126.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.67;MQ0=0;OQ=2791.64;QD=18.49;RankSumP=0.283697;SB=-544.93;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.944C>A;refseq.codonCoord=315;refseq.end=56322294;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_014441;refseq.name2=SIGLEC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A315E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-72;refseq.start=56322294;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr19 56348266 . A T 319.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.96;MQ0=0;OQ=9525.98;QD=37.50;RankSumP=1.00000;SB=-4367.52;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1356A>T;refseq.codingCoordStr_2=c.1077A>T;refseq.codonCoord_1=452;refseq.codonCoord_2=359;refseq.end_1=56348266;refseq.end_2=56348266;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1425;refseq.mrnaCoord_2=1146;refseq.name2_1=SIGLEC7;refseq.name2_2=SIGLEC7;refseq.name_1=NM_014385;refseq.name_2=NM_016543;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G452G;refseq.proteinCoordStr_2=p.G359G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=135;refseq.spliceDist_2=135;refseq.start_1=56348266;refseq.start_2=56348266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr19 56420289 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=8.85;MQ=84.13;MQ0=5;OQ=1694.06;QD=12.93;RankSumP=0.170069;SB=-762.98;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.41C>T;refseq.codonCoord_2=14;refseq.end_1=56420860;refseq.end_2=56420289;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=81;refseq.name2_1=CD33;refseq.name2_2=CD33;refseq.name_1=NM_001082618;refseq.name_2=NM_001772;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A14V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=56420234;refseq.start_2=56420289;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr19 56420453 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=398;Dels=0.00;HRun=3;HaplotypeScore=10.92;MQ=87.05;MQ0=11;OQ=6020.87;QD=15.13;RankSumP=0.0534719;SB=-1596.43;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.205A>G;refseq.codonCoord_2=69;refseq.end_1=56420860;refseq.end_2=56420453;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=245;refseq.name2_1=CD33;refseq.name2_2=CD33;refseq.name_1=NM_001082618;refseq.name_2=NM_001772;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R69G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_2=168;refseq.start_1=56420234;refseq.start_2=56420453;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr19 56430718 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.518A>C;refseq.codingCoordStr_2=c.899A>C;refseq.codonCoord_1=173;refseq.codonCoord_2=300;refseq.end_1=56430718;refseq.end_2=56430718;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=939;refseq.name2_1=CD33;refseq.name2_2=CD33;refseq.name_1=NM_001082618;refseq.name_2=NM_001772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H173P;refseq.proteinCoordStr_2=p.H300P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.start_1=56430718;refseq.start_2=56430718;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr19 56430729 . G A 114.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=1;HaplotypeScore=0.68;MQ=98.86;MQ0=0;OQ=2724.08;QD=18.04;RankSumP=0.000144166;SB=-1115.85;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.529G>A;refseq.codingCoordStr_2=c.910G>A;refseq.codonCoord_1=177;refseq.codonCoord_2=304;refseq.end_1=56430729;refseq.end_2=56430729;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=569;refseq.mrnaCoord_2=950;refseq.name2_1=CD33;refseq.name2_2=CD33;refseq.name_1=NM_001082618;refseq.name_2=NM_001772;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G177R;refseq.proteinCoordStr_2=p.G304R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=56430729;refseq.start_2=56430729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=filterInsoap-gatk GT 1/0 chr19 56460561 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.27928e-09;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.150C>G;refseq.codonCoord=50;refseq.end=56460561;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_173635;refseq.name2=C19orf75;refseq.positionType=CDS;refseq.proteinCoordStr=p.G50G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=128;refseq.start=56460561;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 56542102 . G A 353.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.37;MQ0=0;OQ=5405.74;QD=39.46;RankSumP=1.00000;SB=-2025.68;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.734C>T;refseq.codingCoordStr_2=c.461C>T;refseq.codonCoord_1=245;refseq.codonCoord_2=154;refseq.end_1=56542102;refseq.end_2=56542102;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=938;refseq.mrnaCoord_2=553;refseq.name2_1=ETFB;refseq.name2_2=ETFB;refseq.name_1=NM_001014763;refseq.name_2=NM_001985;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T245M;refseq.proteinCoordStr_2=p.T154M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=56542102;refseq.start_2=56542102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr19 56563007 . G A 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=97.73;MQ0=0;OQ=1465.79;QD=27.14;RankSumP=1.00000;SB=-735.98;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.255C>T;refseq.codonCoord=85;refseq.end=56563007;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_152353;refseq.name2=CLDND2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C85C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-56;refseq.start=56563007;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr19 56567334 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.197T>G;refseq.codonCoord=66;refseq.end=56567334;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_005601;refseq.name2=NKG7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V66G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=40;refseq.start=56567334;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr19 56610307 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.1096A>C;refseq.codingCoordStr_2=c.1270A>C;refseq.codingCoordStr_3=c.1126A>C;refseq.codingCoordStr_4=c.1096A>C;refseq.codingCoordStr_5=c.1021A>C;refseq.codingCoordStr_6=c.826A>C;refseq.codingCoordStr_7=c.1270A>C;refseq.codonCoord_1=366;refseq.codonCoord_2=424;refseq.codonCoord_3=376;refseq.codonCoord_4=366;refseq.codonCoord_5=341;refseq.codonCoord_6=276;refseq.codonCoord_7=424;refseq.end_1=56610307;refseq.end_2=56610307;refseq.end_3=56610307;refseq.end_4=56610307;refseq.end_5=56610307;refseq.end_6=56610307;refseq.end_7=56610307;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1318;refseq.mrnaCoord_2=1492;refseq.mrnaCoord_3=1348;refseq.mrnaCoord_4=1318;refseq.mrnaCoord_5=1243;refseq.mrnaCoord_6=1048;refseq.mrnaCoord_7=1492;refseq.name2_1=SIGLEC10;refseq.name2_2=SIGLEC10;refseq.name2_3=SIGLEC10;refseq.name2_4=SIGLEC10;refseq.name2_5=SIGLEC10;refseq.name2_6=SIGLEC10;refseq.name2_7=SIGLEC10;refseq.name_1=NM_001171156;refseq.name_2=NM_001171157;refseq.name_3=NM_001171158;refseq.name_4=NM_001171159;refseq.name_5=NM_001171160;refseq.name_6=NM_001171161;refseq.name_7=NM_033130;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.T366P;refseq.proteinCoordStr_2=p.T424P;refseq.proteinCoordStr_3=p.T376P;refseq.proteinCoordStr_4=p.T366P;refseq.proteinCoordStr_5=p.T341P;refseq.proteinCoordStr_6=p.T276P;refseq.proteinCoordStr_7=p.T424P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.referenceCodon_5=ACC;refseq.referenceCodon_6=ACC;refseq.referenceCodon_7=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.spliceDist_5=-61;refseq.spliceDist_6=-61;refseq.spliceDist_7=-61;refseq.start_1=56610307;refseq.start_2=56610307;refseq.start_3=56610307;refseq.start_4=56610307;refseq.start_5=56610307;refseq.start_6=56610307;refseq.start_7=56610307;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;set=FilteredInAll GT 1/0 chr19 56611761 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=11.61;MQ=43.73;MQ0=150;OQ=1885.95;QD=6.55;RankSumP=0.00859342;SB=-568.56;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_2=c.503C>T;refseq.codingCoordStr_3=c.677C>T;refseq.codingCoordStr_4=c.533C>T;refseq.codingCoordStr_5=c.503C>T;refseq.codingCoordStr_6=c.435-7;refseq.codingCoordStr_7=c.503C>T;refseq.codingCoordStr_8=c.677C>T;refseq.codonCoord_2=168;refseq.codonCoord_3=226;refseq.codonCoord_4=178;refseq.codonCoord_5=168;refseq.codonCoord_7=168;refseq.codonCoord_8=226;refseq.end_1=56611761;refseq.end_2=56611761;refseq.end_3=56611761;refseq.end_4=56611761;refseq.end_5=56611761;refseq.end_6=56611761;refseq.end_7=56611761;refseq.end_8=56611761;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=false;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=400;refseq.mrnaCoord_2=725;refseq.mrnaCoord_3=899;refseq.mrnaCoord_4=755;refseq.mrnaCoord_5=725;refseq.mrnaCoord_7=725;refseq.mrnaCoord_8=899;refseq.name2_1=LOC100129083;refseq.name2_2=SIGLEC10;refseq.name2_3=SIGLEC10;refseq.name2_4=SIGLEC10;refseq.name2_5=SIGLEC10;refseq.name2_6=SIGLEC10;refseq.name2_7=SIGLEC10;refseq.name2_8=SIGLEC10;refseq.name_1=NR_033235;refseq.name_2=NM_001171156;refseq.name_3=NM_001171157;refseq.name_4=NM_001171158;refseq.name_5=NM_001171159;refseq.name_6=NM_001171160;refseq.name_7=NM_001171161;refseq.name_8=NM_033130;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=intron;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.A168V;refseq.proteinCoordStr_3=p.A226V;refseq.proteinCoordStr_4=p.A178V;refseq.proteinCoordStr_5=p.A168V;refseq.proteinCoordStr_7=p.A168V;refseq.proteinCoordStr_8=p.A226V;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_7=GCA;refseq.referenceCodon_8=GCA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.spliceDist_4=-30;refseq.spliceDist_5=-30;refseq.spliceDist_6=-7;refseq.spliceDist_7=-30;refseq.spliceDist_8=-30;refseq.spliceInfo_6=splice-acceptor_-7;refseq.start_1=56611761;refseq.start_2=56611761;refseq.start_3=56611761;refseq.start_4=56611761;refseq.start_5=56611761;refseq.start_6=56611761;refseq.start_7=56611761;refseq.start_8=56611761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;refseq.variantCodon_5=GTA;refseq.variantCodon_7=GTA;refseq.variantCodon_8=GTA;set=filterInsoap-gatk GT 1/0 chr19 56612392 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_2=c.177C>A;refseq.codingCoordStr_3=c.177C>A;refseq.codingCoordStr_4=c.177C>A;refseq.codingCoordStr_5=c.177C>A;refseq.codingCoordStr_6=c.177C>A;refseq.codingCoordStr_7=c.177C>A;refseq.codingCoordStr_8=c.177C>A;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.codonCoord_4=59;refseq.codonCoord_5=59;refseq.codonCoord_6=59;refseq.codonCoord_7=59;refseq.codonCoord_8=59;refseq.end_1=56612392;refseq.end_2=56612392;refseq.end_3=56612392;refseq.end_4=56612392;refseq.end_5=56612392;refseq.end_6=56612392;refseq.end_7=56612392;refseq.end_8=56612392;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.functionalClass_4=nonsense;refseq.functionalClass_5=nonsense;refseq.functionalClass_6=nonsense;refseq.functionalClass_7=nonsense;refseq.functionalClass_8=nonsense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=399;refseq.mrnaCoord_3=399;refseq.mrnaCoord_4=399;refseq.mrnaCoord_5=399;refseq.mrnaCoord_6=399;refseq.mrnaCoord_7=399;refseq.mrnaCoord_8=399;refseq.name2_1=LOC100129083;refseq.name2_2=SIGLEC10;refseq.name2_3=SIGLEC10;refseq.name2_4=SIGLEC10;refseq.name2_5=SIGLEC10;refseq.name2_6=SIGLEC10;refseq.name2_7=SIGLEC10;refseq.name2_8=SIGLEC10;refseq.name_1=NR_033235;refseq.name_2=NM_001171156;refseq.name_3=NM_001171157;refseq.name_4=NM_001171158;refseq.name_5=NM_001171159;refseq.name_6=NM_001171160;refseq.name_7=NM_001171161;refseq.name_8=NM_033130;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.Y59*;refseq.proteinCoordStr_3=p.Y59*;refseq.proteinCoordStr_4=p.Y59*;refseq.proteinCoordStr_5=p.Y59*;refseq.proteinCoordStr_6=p.Y59*;refseq.proteinCoordStr_7=p.Y59*;refseq.proteinCoordStr_8=p.Y59*;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceAA_5=Tyr;refseq.referenceAA_6=Tyr;refseq.referenceAA_7=Tyr;refseq.referenceAA_8=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.referenceCodon_5=TAC;refseq.referenceCodon_6=TAC;refseq.referenceCodon_7=TAC;refseq.referenceCodon_8=TAC;refseq.spliceDist_1=-100;refseq.spliceDist_2=140;refseq.spliceDist_3=140;refseq.spliceDist_4=140;refseq.spliceDist_5=140;refseq.spliceDist_6=140;refseq.spliceDist_7=140;refseq.spliceDist_8=140;refseq.start_1=56612392;refseq.start_2=56612392;refseq.start_3=56612392;refseq.start_4=56612392;refseq.start_5=56612392;refseq.start_6=56612392;refseq.start_7=56612392;refseq.start_8=56612392;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantAA_4=Stop;refseq.variantAA_5=Stop;refseq.variantAA_6=Stop;refseq.variantAA_7=Stop;refseq.variantAA_8=Stop;refseq.variantCodon_2=TAA;refseq.variantCodon_3=TAA;refseq.variantCodon_4=TAA;refseq.variantCodon_5=TAA;refseq.variantCodon_6=TAA;refseq.variantCodon_7=TAA;refseq.variantCodon_8=TAA;set=FilteredInAll GT 0/1 chr19 56612425 . C T 312.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=3.39;MQ=98.61;MQ0=0;OQ=10192.25;QD=41.77;RankSumP=1.00000;SB=-4788.00;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_2=c.144G>A;refseq.codingCoordStr_3=c.144G>A;refseq.codingCoordStr_4=c.144G>A;refseq.codingCoordStr_5=c.144G>A;refseq.codingCoordStr_6=c.144G>A;refseq.codingCoordStr_7=c.144G>A;refseq.codingCoordStr_8=c.144G>A;refseq.codonCoord_2=48;refseq.codonCoord_3=48;refseq.codonCoord_4=48;refseq.codonCoord_5=48;refseq.codonCoord_6=48;refseq.codonCoord_7=48;refseq.codonCoord_8=48;refseq.end_1=56612425;refseq.end_2=56612425;refseq.end_3=56612425;refseq.end_4=56612425;refseq.end_5=56612425;refseq.end_6=56612425;refseq.end_7=56612425;refseq.end_8=56612425;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=663;refseq.mrnaCoord_2=366;refseq.mrnaCoord_3=366;refseq.mrnaCoord_4=366;refseq.mrnaCoord_5=366;refseq.mrnaCoord_6=366;refseq.mrnaCoord_7=366;refseq.mrnaCoord_8=366;refseq.name2_1=LOC100129083;refseq.name2_2=SIGLEC10;refseq.name2_3=SIGLEC10;refseq.name2_4=SIGLEC10;refseq.name2_5=SIGLEC10;refseq.name2_6=SIGLEC10;refseq.name2_7=SIGLEC10;refseq.name2_8=SIGLEC10;refseq.name_1=NR_033235;refseq.name_2=NM_001171156;refseq.name_3=NM_001171157;refseq.name_4=NM_001171158;refseq.name_5=NM_001171159;refseq.name_6=NM_001171160;refseq.name_7=NM_001171161;refseq.name_8=NM_033130;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.Q48Q;refseq.proteinCoordStr_3=p.Q48Q;refseq.proteinCoordStr_4=p.Q48Q;refseq.proteinCoordStr_5=p.Q48Q;refseq.proteinCoordStr_6=p.Q48Q;refseq.proteinCoordStr_7=p.Q48Q;refseq.proteinCoordStr_8=p.Q48Q;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceAA_8=Gln;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.referenceCodon_5=CAG;refseq.referenceCodon_6=CAG;refseq.referenceCodon_7=CAG;refseq.referenceCodon_8=CAG;refseq.spliceDist_1=-67;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.spliceDist_4=107;refseq.spliceDist_5=107;refseq.spliceDist_6=107;refseq.spliceDist_7=107;refseq.spliceDist_8=107;refseq.start_1=56612425;refseq.start_2=56612425;refseq.start_3=56612425;refseq.start_4=56612425;refseq.start_5=56612425;refseq.start_6=56612425;refseq.start_7=56612425;refseq.start_8=56612425;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantAA_8=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;refseq.variantCodon_5=CAA;refseq.variantCodon_6=CAA;refseq.variantCodon_7=CAA;refseq.variantCodon_8=CAA;set=Intersection GT 1/1 chr19 56692436 . T G 245.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=1;HaplotypeScore=4.42;MQ=98.25;MQ0=0;OQ=15440.79;QD=39.80;RankSumP=1.00000;SB=-5745.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1127A>C;refseq.codingCoordStr_2=c.1481A>C;refseq.codonCoord_1=376;refseq.codonCoord_2=494;refseq.end_1=56692436;refseq.end_2=56692436;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1147;refseq.mrnaCoord_2=1537;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y376S;refseq.proteinCoordStr_2=p.Y494S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=56692436;refseq.start_2=56692436;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr19 56692471 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=421;Dels=0.00;HRun=2;HaplotypeScore=12.64;MQ=98.03;MQ0=0;OQ=8330.16;QD=19.79;RankSumP=0.401543;SB=-2265.81;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1092C>T;refseq.codingCoordStr_2=c.1446C>T;refseq.codonCoord_1=364;refseq.codonCoord_2=482;refseq.end_1=56692471;refseq.end_2=56692471;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1112;refseq.mrnaCoord_2=1502;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F364F;refseq.proteinCoordStr_2=p.F482F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=56692471;refseq.start_2=56692471;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr19 56692484 . G A 330.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=11.16;MQ=98.17;MQ0=0;OQ=6371.15;QD=17.50;RankSumP=0.168376;SB=-1621.06;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1079C>T;refseq.codingCoordStr_2=c.1433C>T;refseq.codonCoord_1=360;refseq.codonCoord_2=478;refseq.end_1=56692484;refseq.end_2=56692484;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1099;refseq.mrnaCoord_2=1489;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T360M;refseq.proteinCoordStr_2=p.T478M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.start_1=56692484;refseq.start_2=56692484;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr19 56693094 . G A 210.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=13.61;MQ=97.65;MQ0=0;OQ=5298.14;QD=20.62;RankSumP=0.0155967;SB=-2071.08;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1041C>T;refseq.codingCoordStr_2=c.1395C>T;refseq.codonCoord_1=347;refseq.codonCoord_2=465;refseq.end_1=56693094;refseq.end_2=56693094;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1061;refseq.mrnaCoord_2=1451;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N347N;refseq.proteinCoordStr_2=p.N465N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=56693094;refseq.start_2=56693094;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr19 56693208 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=22.36;MQ=98.65;MQ0=0;OQ=3896.61;QD=17.55;RankSumP=0.488841;SB=-1363.28;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.927C>T;refseq.codingCoordStr_2=c.1281C>T;refseq.codonCoord_1=309;refseq.codonCoord_2=427;refseq.end_1=56693208;refseq.end_2=56693208;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=947;refseq.mrnaCoord_2=1337;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N309N;refseq.proteinCoordStr_2=p.N427N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-125;refseq.spliceDist_2=-125;refseq.start_1=56693208;refseq.start_2=56693208;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=Intersection GT 1/0 chr19 56693297 . G A 198.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=98.72;MQ0=0;OQ=2524.93;QD=13.95;RankSumP=0.289380;SB=-1141.75;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.838C>T;refseq.codingCoordStr_2=c.1192C>T;refseq.codonCoord_1=280;refseq.codonCoord_2=398;refseq.end_1=56693297;refseq.end_2=56693297;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=858;refseq.mrnaCoord_2=1248;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H280Y;refseq.proteinCoordStr_2=p.H398Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=56693297;refseq.start_2=56693297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr19 56694541 . G A 326.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=98.52;MQ0=0;OQ=5301.32;QD=19.21;RankSumP=0.0262405;SB=-2066.75;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.696C>T;refseq.codingCoordStr_2=c.1050C>T;refseq.codonCoord_1=232;refseq.codonCoord_2=350;refseq.end_1=56694541;refseq.end_2=56694541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=716;refseq.mrnaCoord_2=1106;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G232G;refseq.proteinCoordStr_2=p.G350G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=56694541;refseq.start_2=56694541;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr19 56695143 . G C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=484;Dels=0.00;HRun=2;HaplotypeScore=7.33;MQ=98.87;MQ0=0;OQ=22197.92;QD=45.86;RankSumP=1.00000;SB=-9289.57;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.297C>G;refseq.codingCoordStr_2=c.651C>G;refseq.codonCoord_1=99;refseq.codonCoord_2=217;refseq.end_1=56695143;refseq.end_2=56695143;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=317;refseq.mrnaCoord_2=707;refseq.name2_1=SIGLEC12;refseq.name2_2=SIGLEC12;refseq.name_1=NM_033329;refseq.name_2=NM_053003;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H99Q;refseq.proteinCoordStr_2=p.H217Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-158;refseq.spliceDist_2=-158;refseq.start_1=56695143;refseq.start_2=56695143;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr19 56696380 . A G 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.176324;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.420T>C;refseq.codonCoord=140;refseq.end=56696380;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_053003;refseq.name2=SIGLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N140N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=56696380;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=soap GT 0/1 chr19 56696555 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=623;Dels=0.00;HRun=1;HaplotypeScore=20.80;MQ=97.32;MQ0=0;OQ=11044.69;QD=17.73;RankSumP=0.143992;SB=-3558.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.245C>T;refseq.codonCoord=82;refseq.end=56696555;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=301;refseq.name=NM_053003;refseq.name2=SIGLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A82V;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-183;refseq.start=56696555;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr19 56696607 . G C,T 2949.85 BadSOAPSNP;Indel AC=1,0;AF=0.50,0.00;AN=2;BestBaseQ=21;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=48.89;MQ=94.53;MQ0=0;QD=11.43;RankSumP=0.171522;SB=-1331.93;SecondBestBaseQ=10;set=FilteredInAll GT 0/1 chr19 56696715 . G A 280.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.07;MQ0=0;OQ=6671.72;QD=22.77;RankSumP=0.453427;SB=-2099.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.85C>T;refseq.codonCoord=29;refseq.end=56696715;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=141;refseq.name=NM_053003;refseq.name2=SIGLEC12;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q29*;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=141;refseq.start=56696715;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=Intersection GT 1/0 chr19 56724850 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.952A>C;refseq.codingCoordStr_2=c.904A>C;refseq.codingCoordStr_3=c.952A>C;refseq.codonCoord_1=318;refseq.codonCoord_2=302;refseq.codonCoord_3=318;refseq.end_1=56724850;refseq.end_2=56724850;refseq.end_3=56724850;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1114;refseq.mrnaCoord_2=1066;refseq.mrnaCoord_3=1114;refseq.name2_1=SIGLEC6;refseq.name2_2=SIGLEC6;refseq.name2_3=SIGLEC6;refseq.name_1=NM_001245;refseq.name_2=NM_198845;refseq.name_3=NM_198846;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T318P;refseq.proteinCoordStr_2=p.T302P;refseq.proteinCoordStr_3=p.T318P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.start_1=56724850;refseq.start_2=56724850;refseq.start_3=56724850;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr19 56781912 . T C 182.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=14.99;MQ=98.78;MQ0=0;OQ=5810.36;QD=19.37;RankSumP=0.395586;SB=-1619.46;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.516T>C;refseq.codonCoord=172;refseq.end=56781912;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_007147;refseq.name2=ZNF175;refseq.positionType=CDS;refseq.proteinCoordStr=p.N172N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=221;refseq.start=56781912;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr19 56783194 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1798T>G;refseq.codonCoord=600;refseq.end=56783194;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2176;refseq.name=NM_007147;refseq.name2=ZNF175;refseq.positionType=CDS;refseq.proteinCoordStr=p.S600A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1503;refseq.start=56783194;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT 1/0 chr19 56807457 . G C 285.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=98.40;MQ0=0;OQ=2483.36;QD=18.00;RankSumP=0.482791;SB=-868.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1495C>G;refseq.codonCoord=499;refseq.end=56807457;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1634;refseq.name=NM_003830;refseq.name2=SIGLEC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P499A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=31;refseq.start=56807457;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr19 56822642 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=97.51;MQ0=0;OQ=718.93;QD=10.13;RankSumP=0.210022;SB=-369.05;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1167G>T;refseq.codonCoord=389;refseq.end=56822642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1306;refseq.name=NM_003830;refseq.name2=SIGLEC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G389G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-116;refseq.start=56822642;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 56822959 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.937A>C;refseq.codonCoord=313;refseq.end=56822959;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1076;refseq.name=NM_003830;refseq.name2=SIGLEC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T313P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-61;refseq.start=56822959;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 56824480 . T C 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.555819;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.643A>G;refseq.codonCoord=215;refseq.end=56824480;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_003830;refseq.name2=SIGLEC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M215V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-58;refseq.start=56824480;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr19 56840977 rs4802834 G A 0.03 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=7.96;MQ0=37;OQ=163.19;QD=3.80;SB=-10.00;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.570C>T;refseq.codonCoord=190;refseq.end=56840977;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_001098612;refseq.name2=SIGLEC14;refseq.positionType=CDS;refseq.proteinCoordStr=p.P190P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-131;refseq.start=56840977;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:14,29:5:-19.88,-1.51,-0.00:15.05 chr19 56914609 . G T 44.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=22.12;RankSumP=1.00000;SB=-47.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.364C>A;refseq.codonCoord=122;refseq.end=56914609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=399;refseq.name=NM_001523;refseq.name2=HAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L122M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-339;refseq.start=56914609;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/1 chr19 56914933 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.46;MQ0=0;OQ=160.67;QD=10.04;RankSumP=0.474858;SB=-70.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.40T>C;refseq.codonCoord=14;refseq.end=56914933;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_001523;refseq.name2=HAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C14R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=31;refseq.start=56914933;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr19 56941023 . T G 323.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.21;MQ0=0;OQ=2447.47;QD=33.99;RankSumP=1.00000;SB=-710.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1037A>C;refseq.codonCoord=346;refseq.end=56941023;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1132;refseq.name=NM_002029;refseq.name2=FPR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E346A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-186;refseq.start=56941023;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr19 56941484 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=529;Dels=0.00;HRun=1;HaplotypeScore=3.21;MQ=98.84;MQ0=0;OQ=9044.83;QD=17.10;RankSumP=0.422490;SB=-3374.27;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.576T>G;refseq.codonCoord=192;refseq.end=56941484;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_002029;refseq.name2=FPR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N192K;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=587;refseq.start=56941484;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 56941759 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=447;Dels=0.00;HRun=1;HaplotypeScore=16.44;MQ=98.67;MQ0=0;OQ=9681.40;QD=21.66;RankSumP=0.463864;SB=-3694.36;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.301G>C;refseq.codonCoord=101;refseq.end=56941759;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_002029;refseq.name2=FPR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V101L;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=312;refseq.start=56941759;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr19 56942028 . A G 144.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=98.98;MQ0=0;OQ=2459.61;QD=14.91;RankSumP=0.121607;SB=-790.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.32T>C;refseq.codonCoord=11;refseq.end=56942028;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_002029;refseq.name2=FPR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I11T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=43;refseq.start=56942028;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr19 57019596 . C T 226.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.91;MQ0=0;OQ=1818.25;QD=17.65;RankSumP=0.279485;SB=-599.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.783C>T;refseq.codonCoord=261;refseq.end=57019596;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=967;refseq.name=NM_002030;refseq.name2=FPR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G261G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=793;refseq.start=57019596;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 57067791 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.1087A>C;refseq.codingCoordStr_3=c.1264A>C;refseq.codonCoord_2=363;refseq.codonCoord_3=422;refseq.end_1=57072336;refseq.end_2=57067791;refseq.end_3=57067791;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1502;refseq.mrnaCoord_3=1655;refseq.name2_1=ZNF577;refseq.name2_2=ZNF577;refseq.name2_3=ZNF577;refseq.name_1=NR_024181;refseq.name_2=NM_001135590;refseq.name_3=NM_032679;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T363P;refseq.proteinCoordStr_3=p.T422P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_2=804;refseq.spliceDist_3=981;refseq.start_1=57056054;refseq.start_2=57067791;refseq.start_3=57067791;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr19 57068319 . T C 409.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.58;MQ0=0;OQ=2889.75;QD=38.53;RankSumP=1.00000;SB=-1283.59;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.559A>G;refseq.codingCoordStr_3=c.736A>G;refseq.codonCoord_2=187;refseq.codonCoord_3=246;refseq.end_1=57072336;refseq.end_2=57068319;refseq.end_3=57068319;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=974;refseq.mrnaCoord_3=1127;refseq.name2_1=ZNF577;refseq.name2_2=ZNF577;refseq.name2_3=ZNF577;refseq.name_1=NR_024181;refseq.name_2=NM_001135590;refseq.name_3=NM_032679;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.K187E;refseq.proteinCoordStr_3=p.K246E;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_2=276;refseq.spliceDist_3=453;refseq.start_1=57056054;refseq.start_2=57068319;refseq.start_3=57068319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr19 57068764 . T A 185.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=1717.59;QD=35.78;RankSumP=1.00000;SB=-295.90;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_3=c.291A>T;refseq.codonCoord_3=97;refseq.end_1=57072336;refseq.end_2=57072336;refseq.end_3=57068764;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=682;refseq.name2_1=ZNF577;refseq.name2_2=ZNF577;refseq.name2_3=ZNF577;refseq.name_1=NR_024181;refseq.name_2=NM_001135590;refseq.name_3=NM_032679;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V97V;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTA;refseq.spliceDist_3=8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=57056054;refseq.start_2=57068605;refseq.start_3=57068764;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Val;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chr19 57073552 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.89T>G;refseq.codingCoordStr_3=c.89T>G;refseq.codonCoord_2=30;refseq.codonCoord_3=30;refseq.end_1=57073552;refseq.end_2=57073552;refseq.end_3=57073552;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=504;refseq.mrnaCoord_3=480;refseq.name2_1=ZNF577;refseq.name2_2=ZNF577;refseq.name2_3=ZNF577;refseq.name_1=NR_024181;refseq.name_2=NM_001135590;refseq.name_3=NM_032679;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V30G;refseq.proteinCoordStr_3=p.V30G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.start_1=57073552;refseq.start_2=57073552;refseq.start_3=57073552;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr19 57091989 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.70T>G;refseq.codonCoord=24;refseq.end=57091989;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=338;refseq.name=NM_023074;refseq.name2=ZNF649;refseq.positionType=CDS;refseq.proteinCoordStr=p.F24V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=55;refseq.start=57091989;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr19 57135302 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.44T>G;refseq.codingCoordStr_2=c.-65T>G;refseq.codonCoord_1=15;refseq.end_1=57135302;refseq.end_2=57135302;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=508;refseq.mrnaCoord_2=400;refseq.name2_1=ZNF613;refseq.name2_2=ZNF613;refseq.name_1=NM_001031721;refseq.name_2=NM_024840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.V15G;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=57135302;refseq.start_2=57135302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGG;set=FilteredInAll GT 1/0 chr19 57140481 . G C 127.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=2;HaplotypeScore=5.44;MQ=98.69;MQ0=0;OQ=4230.17;QD=21.36;RankSumP=0.118491;SB=-1483.77;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1533G>C;refseq.codingCoordStr_2=c.1425G>C;refseq.codonCoord_1=511;refseq.codonCoord_2=475;refseq.end_1=57140481;refseq.end_2=57140481;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1997;refseq.mrnaCoord_2=1889;refseq.name2_1=ZNF613;refseq.name2_2=ZNF613;refseq.name_1=NM_001031721;refseq.name_2=NM_024840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P511P;refseq.proteinCoordStr_2=p.P475P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-341;refseq.spliceDist_2=-341;refseq.start_1=57140481;refseq.start_2=57140481;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr19 57140734 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=3.55039e-06;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1786G>T;refseq.codingCoordStr_2=c.1678G>T;refseq.codonCoord_1=596;refseq.codonCoord_2=560;refseq.end_1=57140734;refseq.end_2=57140734;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2250;refseq.mrnaCoord_2=2142;refseq.name2_1=ZNF613;refseq.name2_2=ZNF613;refseq.name_1=NM_001031721;refseq.name_2=NM_024840;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V596L;refseq.proteinCoordStr_2=p.V560L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-88;refseq.spliceDist_2=-88;refseq.start_1=57140734;refseq.start_2=57140734;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT 0/1 chr19 57164107 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=656;Dels=0.00;HRun=0;HaplotypeScore=20.31;MQ=83.61;MQ0=67;OQ=9104.41;QD=13.88;RankSumP=0.288126;SB=-3190.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.105T>C;refseq.codonCoord=35;refseq.end=57164107;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=333;refseq.name=NM_021632;refseq.name2=ZNF350;refseq.positionType=CDS;refseq.proteinCoordStr=p.D35D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-38;refseq.start=57164107;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 57164168 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=57164168;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_021632;refseq.name2=ZNF350;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=57164168;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 57187961 . C T 112.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=98.52;MQ0=0;OQ=2182.06;QD=21.39;RankSumP=0.378342;SB=-804.03;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2180G>A;refseq.codonCoord=727;refseq.end=57187961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2472;refseq.name=NM_198480;refseq.name2=ZNF615;refseq.positionType=CDS;refseq.proteinCoordStr=p.R727K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-1562;refseq.start=57187961;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 57189062 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=98.95;MQ0=0;OQ=8402.15;QD=21.88;RankSumP=0.359285;SB=-3388.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1079C>T;refseq.codonCoord=360;refseq.end=57189062;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1371;refseq.name=NM_198480;refseq.name2=ZNF615;refseq.positionType=CDS;refseq.proteinCoordStr=p.T360I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=841;refseq.start=57189062;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr19 57189755 . G A 104.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=99.00;MQ0=0;OQ=1626.91;QD=12.05;RankSumP=0.496167;SB=-592.39;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.386C>T;refseq.codonCoord=129;refseq.end=57189755;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_198480;refseq.name2=ZNF615;refseq.positionType=CDS;refseq.proteinCoordStr=p.T129M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=148;refseq.start=57189755;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr19 57197292 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.70T>G;refseq.codonCoord=24;refseq.end=57197292;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_198480;refseq.name2=ZNF615;refseq.positionType=CDS;refseq.proteinCoordStr=p.F24V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=55;refseq.start=57197292;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr19 57197318 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=57197318;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=336;refseq.name=NM_198480;refseq.name2=ZNF615;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=57197318;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 57211420 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=916;Dels=0.00;HRun=0;HaplotypeScore=10.01;MQ=98.03;MQ0=0;OQ=18950.80;QD=20.69;RankSumP=0.320172;SB=-7596.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1243G>A;refseq.codonCoord=415;refseq.end=57211420;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1645;refseq.name=NM_025040;refseq.name2=ZNF614;refseq.positionType=CDS;refseq.proteinCoordStr=p.V415I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=1005;refseq.start=57211420;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr19 57212052 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=249;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.60;MQ0=0;OQ=5086.22;QD=20.43;RankSumP=0.0503511;SB=-1816.74;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.611C>T;refseq.codonCoord=204;refseq.end=57212052;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_025040;refseq.name2=ZNF614;refseq.positionType=CDS;refseq.proteinCoordStr=p.P204L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=373;refseq.start=57212052;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr19 57212184 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=98.94;MQ0=0;OQ=1872.69;QD=12.32;RankSumP=0.274349;SB=-924.17;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.479G>A;refseq.codonCoord=160;refseq.end=57212184;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=881;refseq.name=NM_025040;refseq.name2=ZNF614;refseq.positionType=CDS;refseq.proteinCoordStr=p.G160E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=241;refseq.start=57212184;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr19 57213108 . G A 255.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=99.00;MQ0=0;OQ=4923.02;QD=22.18;RankSumP=0.249682;SB=-1435.96;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.203C>T;refseq.codonCoord=68;refseq.end=57213108;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=605;refseq.name=NM_025040;refseq.name2=ZNF614;refseq.positionType=CDS;refseq.proteinCoordStr=p.T68I;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-36;refseq.start=57213108;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/0 chr19 57213531 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.44T>G;refseq.codonCoord=15;refseq.end=57213531;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_025040;refseq.name2=ZNF614;refseq.positionType=CDS;refseq.proteinCoordStr=p.V15G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=57213531;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr19 57229014 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=343;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.71;MQ0=0;OQ=8463.81;QD=24.68;RankSumP=0.226819;SB=-3590.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1730G>A;refseq.codonCoord=577;refseq.end=57229014;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2048;refseq.name=NM_014650;refseq.name2=ZNF432;refseq.positionType=CDS;refseq.proteinCoordStr=p.G577D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-526;refseq.start=57229014;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 57229388 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=435;Dels=0.00;HRun=1;HaplotypeScore=5.70;MQ=98.93;MQ0=0;OQ=7348.23;QD=16.89;RankSumP=0.215736;SB=-2822.12;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1356A>C;refseq.codonCoord=452;refseq.end=57229388;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1674;refseq.name=NM_014650;refseq.name2=ZNF432;refseq.positionType=CDS;refseq.proteinCoordStr=p.T452T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-900;refseq.start=57229388;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr19 57230240 . A G 272.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=99.00;MQ0=0;OQ=1717.87;QD=18.08;RankSumP=0.0831224;SB=-572.08;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.504T>C;refseq.codonCoord=168;refseq.end=57230240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=822;refseq.name=NM_014650;refseq.name2=ZNF432;refseq.positionType=CDS;refseq.proteinCoordStr=p.G168G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=266;refseq.start=57230240;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr19 57406361 . G A 27.32 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;QD=3.90;RankSumP=0.633333;SB=-36.63;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.307G>A;refseq.codonCoord=103;refseq.end=57406361;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_014225;refseq.name2=PPP2R1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V103M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=37;refseq.start=57406361;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT 1/0 chr19 57406461 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=3;RankSumP=0.0161242;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.407C>G;refseq.codonCoord=136;refseq.end=57406461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_014225;refseq.name2=PPP2R1A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A136G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-97;refseq.start=57406461;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 57517047 . A G 209.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=98.64;MQ0=0;OQ=1673.38;QD=15.35;RankSumP=0.318991;SB=-506.00;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.732A>G;refseq.codonCoord=244;refseq.end=57517047;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_144684;refseq.name2=ZNF480;refseq.positionType=CDS;refseq.proteinCoordStr=p.S244S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=404;refseq.start=57517047;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr19 57548767 . C T 337.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.78;MQ0=0;OQ=5804.50;QD=20.51;RankSumP=0.432576;SB=-1992.43;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.84C>T;refseq.codingCoordStr_2=c.84C>T;refseq.codingCoordStr_3=c.84C>T;refseq.codingCoordStr_4=c.84C>T;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.codonCoord_3=28;refseq.codonCoord_4=28;refseq.end_1=57548767;refseq.end_2=57548767;refseq.end_3=57548767;refseq.end_4=57548767;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=603;refseq.mrnaCoord_2=490;refseq.mrnaCoord_3=603;refseq.mrnaCoord_4=459;refseq.name2_1=ZNF610;refseq.name2_2=ZNF610;refseq.name2_3=ZNF610;refseq.name2_4=ZNF610;refseq.name_1=NM_001161425;refseq.name_2=NM_001161426;refseq.name_3=NM_001161427;refseq.name_4=NM_173530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D28D;refseq.proteinCoordStr_2=p.D28D;refseq.proteinCoordStr_3=p.D28D;refseq.proteinCoordStr_4=p.D28D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.spliceDist_4=21;refseq.start_1=57548767;refseq.start_2=57548767;refseq.start_3=57548767;refseq.start_4=57548767;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 0/1 chr19 57560834 . G T 419.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4775.50;QD=38.51;RankSumP=1.00000;SB=-2095.25;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.391G>T;refseq.codingCoordStr_2=c.391G>T;refseq.codingCoordStr_3=c.262G>T;refseq.codingCoordStr_4=c.391G>T;refseq.codonCoord_1=131;refseq.codonCoord_2=131;refseq.codonCoord_3=88;refseq.codonCoord_4=131;refseq.end_1=57560834;refseq.end_2=57560834;refseq.end_3=57560834;refseq.end_4=57560834;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=910;refseq.mrnaCoord_2=797;refseq.mrnaCoord_3=781;refseq.mrnaCoord_4=766;refseq.name2_1=ZNF610;refseq.name2_2=ZNF610;refseq.name2_3=ZNF610;refseq.name2_4=ZNF610;refseq.name_1=NM_001161425;refseq.name_2=NM_001161426;refseq.name_3=NM_001161427;refseq.name_4=NM_173530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A131S;refseq.proteinCoordStr_2=p.A131S;refseq.proteinCoordStr_3=p.A88S;refseq.proteinCoordStr_4=p.A131S;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.spliceDist_4=72;refseq.start_1=57560834;refseq.start_2=57560834;refseq.start_3=57560834;refseq.start_4=57560834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 1/1 chr19 57561090 . G C 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=187;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.69;MQ0=0;OQ=9044.55;QD=48.37;RankSumP=1.00000;SB=-4387.51;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.647G>C;refseq.codingCoordStr_2=c.647G>C;refseq.codingCoordStr_3=c.518G>C;refseq.codingCoordStr_4=c.647G>C;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.codonCoord_3=173;refseq.codonCoord_4=216;refseq.end_1=57561090;refseq.end_2=57561090;refseq.end_3=57561090;refseq.end_4=57561090;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1166;refseq.mrnaCoord_2=1053;refseq.mrnaCoord_3=1037;refseq.mrnaCoord_4=1022;refseq.name2_1=ZNF610;refseq.name2_2=ZNF610;refseq.name2_3=ZNF610;refseq.name2_4=ZNF610;refseq.name_1=NM_001161425;refseq.name_2=NM_001161426;refseq.name_3=NM_001161427;refseq.name_4=NM_173530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R216P;refseq.proteinCoordStr_2=p.R216P;refseq.proteinCoordStr_3=p.R173P;refseq.proteinCoordStr_4=p.R216P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.spliceDist_1=328;refseq.spliceDist_2=328;refseq.spliceDist_3=328;refseq.spliceDist_4=328;refseq.start_1=57561090;refseq.start_2=57561090;refseq.start_3=57561090;refseq.start_4=57561090;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=Intersection GT 1/1 chr19 57561124 . T C 332.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=98.97;MQ0=0;OQ=7162.34;QD=37.90;RankSumP=1.00000;SB=-3309.41;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.681T>C;refseq.codingCoordStr_2=c.681T>C;refseq.codingCoordStr_3=c.552T>C;refseq.codingCoordStr_4=c.681T>C;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.codonCoord_3=184;refseq.codonCoord_4=227;refseq.end_1=57561124;refseq.end_2=57561124;refseq.end_3=57561124;refseq.end_4=57561124;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1200;refseq.mrnaCoord_2=1087;refseq.mrnaCoord_3=1071;refseq.mrnaCoord_4=1056;refseq.name2_1=ZNF610;refseq.name2_2=ZNF610;refseq.name2_3=ZNF610;refseq.name2_4=ZNF610;refseq.name_1=NM_001161425;refseq.name_2=NM_001161426;refseq.name_3=NM_001161427;refseq.name_4=NM_173530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T227T;refseq.proteinCoordStr_2=p.T227T;refseq.proteinCoordStr_3=p.T184T;refseq.proteinCoordStr_4=p.T227T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.spliceDist_1=362;refseq.spliceDist_2=362;refseq.spliceDist_3=362;refseq.spliceDist_4=362;refseq.start_1=57561124;refseq.start_2=57561124;refseq.start_3=57561124;refseq.start_4=57561124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr19 57561346 . G A 413.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.63;MQ0=0;OQ=6332.29;QD=43.08;RankSumP=1.00000;SB=-3032.31;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.903G>A;refseq.codingCoordStr_2=c.903G>A;refseq.codingCoordStr_3=c.774G>A;refseq.codingCoordStr_4=c.903G>A;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.codonCoord_3=258;refseq.codonCoord_4=301;refseq.end_1=57561346;refseq.end_2=57561346;refseq.end_3=57561346;refseq.end_4=57561346;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1422;refseq.mrnaCoord_2=1309;refseq.mrnaCoord_3=1293;refseq.mrnaCoord_4=1278;refseq.name2_1=ZNF610;refseq.name2_2=ZNF610;refseq.name2_3=ZNF610;refseq.name2_4=ZNF610;refseq.name_1=NM_001161425;refseq.name_2=NM_001161426;refseq.name_3=NM_001161427;refseq.name_4=NM_173530;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S301S;refseq.proteinCoordStr_2=p.S301S;refseq.proteinCoordStr_3=p.S258S;refseq.proteinCoordStr_4=p.S301S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.spliceDist_1=584;refseq.spliceDist_2=584;refseq.spliceDist_3=584;refseq.spliceDist_4=584;refseq.start_1=57561346;refseq.start_2=57561346;refseq.start_3=57561346;refseq.start_4=57561346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=TCA;refseq.variantCodon_4=TCA;set=Intersection GT 1/1 chr19 57769223 . T C 160.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=353;Dels=0.00;HRun=1;HaplotypeScore=5.61;MQ=92.20;MQ0=13;OQ=6987.41;QD=19.79;RankSumP=0.239485;SB=-2838.74;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.209T>C;refseq.codingCoordStr_2=c.11T>C;refseq.codonCoord_1=70;refseq.codonCoord_2=4;refseq.end_1=57769223;refseq.end_2=57769223;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=434;refseq.mrnaCoord_2=140;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L70P;refseq.proteinCoordStr_2=p.L4P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=57769223;refseq.start_2=57769223;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr19 57777471 . C T 326.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.67;MQ0=0;OQ=7115.53;QD=21.24;RankSumP=0.376037;SB=-2945.74;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.545C>T;refseq.codingCoordStr_2=c.347C>T;refseq.codonCoord_1=182;refseq.codonCoord_2=116;refseq.end_1=57777471;refseq.end_2=57777471;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=770;refseq.mrnaCoord_2=476;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T182I;refseq.proteinCoordStr_2=p.T116I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=205;refseq.spliceDist_2=205;refseq.start_1=57777471;refseq.start_2=57777471;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr19 57777625 . T C 114.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=9.77;MQ=98.23;MQ0=0;OQ=4413.57;QD=19.53;RankSumP=0.496862;SB=-932.45;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.699T>C;refseq.codingCoordStr_2=c.501T>C;refseq.codonCoord_1=233;refseq.codonCoord_2=167;refseq.end_1=57777625;refseq.end_2=57777625;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=924;refseq.mrnaCoord_2=630;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A233A;refseq.proteinCoordStr_2=p.A167A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=359;refseq.spliceDist_2=359;refseq.start_1=57777625;refseq.start_2=57777625;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr19 57777936 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=411;Dels=0.00;HRun=1;HaplotypeScore=12.56;MQ=98.15;MQ0=0;OQ=9326.65;QD=22.69;RankSumP=0.0914992;SB=-3726.38;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1010C>A;refseq.codingCoordStr_2=c.812C>A;refseq.codonCoord_1=337;refseq.codonCoord_2=271;refseq.end_1=57777936;refseq.end_2=57777936;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1235;refseq.mrnaCoord_2=941;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T337K;refseq.proteinCoordStr_2=p.T271K;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=670;refseq.spliceDist_2=670;refseq.start_1=57777936;refseq.start_2=57777936;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr19 57778045 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431267;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1119T>C;refseq.codingCoordStr_2=c.921T>C;refseq.codonCoord_1=373;refseq.codonCoord_2=307;refseq.end_1=57778045;refseq.end_2=57778045;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1344;refseq.mrnaCoord_2=1050;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F373F;refseq.proteinCoordStr_2=p.F307F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=779;refseq.spliceDist_2=779;refseq.start_1=57778045;refseq.start_2=57778045;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 1/0 chr19 57778079 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.450771;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1153G>C;refseq.codingCoordStr_2=c.955G>C;refseq.codonCoord_1=385;refseq.codonCoord_2=319;refseq.end_1=57778079;refseq.end_2=57778079;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1378;refseq.mrnaCoord_2=1084;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V385L;refseq.proteinCoordStr_2=p.V319L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=813;refseq.spliceDist_2=813;refseq.start_1=57778079;refseq.start_2=57778079;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=soap GT 0/1 chr19 57778103 . A C 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.481086;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1177A>C;refseq.codingCoordStr_2=c.979A>C;refseq.codonCoord_1=393;refseq.codonCoord_2=327;refseq.end_1=57778103;refseq.end_2=57778103;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1402;refseq.mrnaCoord_2=1108;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K393Q;refseq.proteinCoordStr_2=p.K327Q;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=837;refseq.spliceDist_2=837;refseq.start_1=57778103;refseq.start_2=57778103;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=soap GT 0/1 chr19 57778109 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.385895;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1183G>A;refseq.codingCoordStr_2=c.985G>A;refseq.codonCoord_1=395;refseq.codonCoord_2=329;refseq.end_1=57778109;refseq.end_2=57778109;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1408;refseq.mrnaCoord_2=1114;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E395K;refseq.proteinCoordStr_2=p.E329K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=843;refseq.spliceDist_2=843;refseq.start_1=57778109;refseq.start_2=57778109;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=soap GT 1/0 chr19 57778129 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.400676;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1203C>T;refseq.codingCoordStr_2=c.1005C>T;refseq.codonCoord_1=401;refseq.codonCoord_2=335;refseq.end_1=57778129;refseq.end_2=57778129;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1428;refseq.mrnaCoord_2=1134;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F401F;refseq.proteinCoordStr_2=p.F335F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=863;refseq.spliceDist_2=863;refseq.start_1=57778129;refseq.start_2=57778129;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chr19 57778136 . A T 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431216;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1210A>T;refseq.codingCoordStr_2=c.1012A>T;refseq.codonCoord_1=404;refseq.codonCoord_2=338;refseq.end_1=57778136;refseq.end_2=57778136;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1435;refseq.mrnaCoord_2=1141;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K404*;refseq.proteinCoordStr_2=p.K338*;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=870;refseq.spliceDist_2=870;refseq.start_1=57778136;refseq.start_2=57778136;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=soap GT 0/1 chr19 57778137 . A G 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.382189;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1211A>G;refseq.codingCoordStr_2=c.1013A>G;refseq.codonCoord_1=404;refseq.codonCoord_2=338;refseq.end_1=57778137;refseq.end_2=57778137;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1436;refseq.mrnaCoord_2=1142;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K404R;refseq.proteinCoordStr_2=p.K338R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=871;refseq.spliceDist_2=871;refseq.start_1=57778137;refseq.start_2=57778137;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=soap GT 0/1 chr19 57778168 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.496332;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1242C>T;refseq.codingCoordStr_2=c.1044C>T;refseq.codonCoord_1=414;refseq.codonCoord_2=348;refseq.end_1=57778168;refseq.end_2=57778168;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1467;refseq.mrnaCoord_2=1173;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H414H;refseq.proteinCoordStr_2=p.H348H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=902;refseq.spliceDist_2=902;refseq.start_1=57778168;refseq.start_2=57778168;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap GT 0/1 chr19 57778174 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.278656;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1248A>T;refseq.codingCoordStr_2=c.1050A>T;refseq.codonCoord_1=416;refseq.codonCoord_2=350;refseq.end_1=57778174;refseq.end_2=57778174;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1473;refseq.mrnaCoord_2=1179;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G416G;refseq.proteinCoordStr_2=p.G350G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=908;refseq.spliceDist_2=908;refseq.start_1=57778174;refseq.start_2=57778174;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=soap GT 0/1 chr19 57778183 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.381377;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1257A>G;refseq.codingCoordStr_2=c.1059A>G;refseq.codonCoord_1=419;refseq.codonCoord_2=353;refseq.end_1=57778183;refseq.end_2=57778183;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1482;refseq.mrnaCoord_2=1188;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P419P;refseq.proteinCoordStr_2=p.P353P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=917;refseq.spliceDist_2=917;refseq.start_1=57778183;refseq.start_2=57778183;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=soap GT 0/1 chr19 57778242 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.192924;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1316C>T;refseq.codingCoordStr_2=c.1118C>T;refseq.codonCoord_1=439;refseq.codonCoord_2=373;refseq.end_1=57778242;refseq.end_2=57778242;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1541;refseq.mrnaCoord_2=1247;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T439I;refseq.proteinCoordStr_2=p.T373I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=976;refseq.spliceDist_2=976;refseq.start_1=57778242;refseq.start_2=57778242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=soap GT 0/1 chr19 57778297 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.133290;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1371T>C;refseq.codingCoordStr_2=c.1173T>C;refseq.codonCoord_1=457;refseq.codonCoord_2=391;refseq.end_1=57778297;refseq.end_2=57778297;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1596;refseq.mrnaCoord_2=1302;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F457F;refseq.proteinCoordStr_2=p.F391F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=1031;refseq.spliceDist_2=1031;refseq.start_1=57778297;refseq.start_2=57778297;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 1/0 chr19 57778349 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.428349;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1423C>T;refseq.codingCoordStr_2=c.1225C>T;refseq.codonCoord_1=475;refseq.codonCoord_2=409;refseq.end_1=57778349;refseq.end_2=57778349;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1648;refseq.mrnaCoord_2=1354;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R475C;refseq.proteinCoordStr_2=p.R409C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=1083;refseq.spliceDist_2=1083;refseq.start_1=57778349;refseq.start_2=57778349;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=soap GT 0/1 chr19 57778410 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=56.58;MQ0=36;OQ=582.98;QD=3.08;RankSumP=0.448188;SB=18.39;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1484G>A;refseq.codingCoordStr_2=c.1286G>A;refseq.codonCoord_1=495;refseq.codonCoord_2=429;refseq.end_1=57778410;refseq.end_2=57778410;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1709;refseq.mrnaCoord_2=1415;refseq.name2_1=ZNF701;refseq.name2_2=ZNF701;refseq.name_1=NM_001172655;refseq.name_2=NM_018260;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R495H;refseq.proteinCoordStr_2=p.R429H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=1144;refseq.spliceDist_2=1144;refseq.start_1=57778410;refseq.start_2=57778410;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=soap-filterIngatk GT 1/0 chr19 57809343 . C T 138.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.83;MQ0=0;OQ=4966.07;QD=23.65;RankSumP=0.283302;SB=-1975.43;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_2=c.287G>A;refseq.codingCoordStr_3=c.287G>A;refseq.codingCoordStr_4=c.287G>A;refseq.codingCoordStr_5=c.287G>A;refseq.codingCoordStr_6=c.287G>A;refseq.codingCoordStr_7=c.287G>A;refseq.codingCoordStr_8=c.287G>A;refseq.codonCoord_2=96;refseq.codonCoord_3=96;refseq.codonCoord_4=96;refseq.codonCoord_5=96;refseq.codonCoord_6=96;refseq.codonCoord_7=96;refseq.codonCoord_8=96;refseq.end_1=57809343;refseq.end_2=57809343;refseq.end_3=57809343;refseq.end_4=57809343;refseq.end_5=57809343;refseq.end_6=57809343;refseq.end_7=57809343;refseq.end_8=57809343;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1135;refseq.mrnaCoord_2=1029;refseq.mrnaCoord_3=913;refseq.mrnaCoord_4=939;refseq.mrnaCoord_5=815;refseq.mrnaCoord_6=1051;refseq.mrnaCoord_7=688;refseq.mrnaCoord_8=688;refseq.name2_1=ZNF83;refseq.name2_2=ZNF83;refseq.name2_3=ZNF83;refseq.name2_4=ZNF83;refseq.name2_5=ZNF83;refseq.name2_6=ZNF83;refseq.name2_7=ZNF83;refseq.name2_8=ZNF83;refseq.name_1=NR_003936;refseq.name_2=NM_001105549;refseq.name_3=NM_001105550;refseq.name_4=NM_001105551;refseq.name_5=NM_001105552;refseq.name_6=NM_001105553;refseq.name_7=NM_001105554;refseq.name_8=NM_018300;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.S96N;refseq.proteinCoordStr_3=p.S96N;refseq.proteinCoordStr_4=p.S96N;refseq.proteinCoordStr_5=p.S96N;refseq.proteinCoordStr_6=p.S96N;refseq.proteinCoordStr_7=p.S96N;refseq.proteinCoordStr_8=p.S96N;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.referenceCodon_5=AGT;refseq.referenceCodon_6=AGT;refseq.referenceCodon_7=AGT;refseq.referenceCodon_8=AGT;refseq.spliceDist_1=-518;refseq.spliceDist_2=520;refseq.spliceDist_3=520;refseq.spliceDist_4=520;refseq.spliceDist_5=520;refseq.spliceDist_6=-518;refseq.spliceDist_7=-518;refseq.spliceDist_8=520;refseq.start_1=57809343;refseq.start_2=57809343;refseq.start_3=57809343;refseq.start_4=57809343;refseq.start_5=57809343;refseq.start_6=57809343;refseq.start_7=57809343;refseq.start_8=57809343;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantAA_8=Asn;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;refseq.variantCodon_6=AAT;refseq.variantCodon_7=AAT;refseq.variantCodon_8=AAT;set=Intersection GT 0/1 chr19 57809621 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.79;MQ0=0;OQ=1464.97;QD=11.81;RankSumP=0.396709;SB=-458.45;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_2=c.9G>T;refseq.codingCoordStr_3=c.9G>T;refseq.codingCoordStr_4=c.9G>T;refseq.codingCoordStr_5=c.9G>T;refseq.codingCoordStr_6=c.9G>T;refseq.codingCoordStr_7=c.9G>T;refseq.codingCoordStr_8=c.9G>T;refseq.codonCoord_2=3;refseq.codonCoord_3=3;refseq.codonCoord_4=3;refseq.codonCoord_5=3;refseq.codonCoord_6=3;refseq.codonCoord_7=3;refseq.codonCoord_8=3;refseq.end_1=57809621;refseq.end_2=57809621;refseq.end_3=57809621;refseq.end_4=57809621;refseq.end_5=57809621;refseq.end_6=57809621;refseq.end_7=57809621;refseq.end_8=57809621;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=857;refseq.mrnaCoord_2=751;refseq.mrnaCoord_3=635;refseq.mrnaCoord_4=661;refseq.mrnaCoord_5=537;refseq.mrnaCoord_6=773;refseq.mrnaCoord_7=410;refseq.mrnaCoord_8=410;refseq.name2_1=ZNF83;refseq.name2_2=ZNF83;refseq.name2_3=ZNF83;refseq.name2_4=ZNF83;refseq.name2_5=ZNF83;refseq.name2_6=ZNF83;refseq.name2_7=ZNF83;refseq.name2_8=ZNF83;refseq.name_1=NR_003936;refseq.name_2=NM_001105549;refseq.name_3=NM_001105550;refseq.name_4=NM_001105551;refseq.name_5=NM_001105552;refseq.name_6=NM_001105553;refseq.name_7=NM_001105554;refseq.name_8=NM_018300;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.G3G;refseq.proteinCoordStr_3=p.G3G;refseq.proteinCoordStr_4=p.G3G;refseq.proteinCoordStr_5=p.G3G;refseq.proteinCoordStr_6=p.G3G;refseq.proteinCoordStr_7=p.G3G;refseq.proteinCoordStr_8=p.G3G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceAA_7=Gly;refseq.referenceAA_8=Gly;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.referenceCodon_5=GGG;refseq.referenceCodon_6=GGG;refseq.referenceCodon_7=GGG;refseq.referenceCodon_8=GGG;refseq.spliceDist_1=242;refseq.spliceDist_2=242;refseq.spliceDist_3=242;refseq.spliceDist_4=242;refseq.spliceDist_5=242;refseq.spliceDist_6=242;refseq.spliceDist_7=242;refseq.spliceDist_8=242;refseq.start_1=57809621;refseq.start_2=57809621;refseq.start_3=57809621;refseq.start_4=57809621;refseq.start_5=57809621;refseq.start_6=57809621;refseq.start_7=57809621;refseq.start_8=57809621;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;refseq.variantCodon_7=GGT;refseq.variantCodon_8=GGT;set=Intersection GT 1/0 chr19 57901425 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.0235346;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.695A>C;refseq.codingCoordStr_2=c.695A>C;refseq.codingCoordStr_3=c.488A>C;refseq.codingCoordStr_4=c.695A>C;refseq.codonCoord_1=232;refseq.codonCoord_2=232;refseq.codonCoord_3=163;refseq.codonCoord_4=232;refseq.end_1=57901425;refseq.end_2=57901425;refseq.end_3=57901425;refseq.end_4=57901425;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=970;refseq.mrnaCoord_2=870;refseq.mrnaCoord_3=833;refseq.mrnaCoord_4=1012;refseq.name2_1=ZNF611;refseq.name2_2=ZNF611;refseq.name2_3=ZNF611;refseq.name2_4=ZNF611;refseq.name_1=NM_001161499;refseq.name_2=NM_001161500;refseq.name_3=NM_001161501;refseq.name_4=NM_030972;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q232P;refseq.proteinCoordStr_2=p.Q232P;refseq.proteinCoordStr_3=p.Q163P;refseq.proteinCoordStr_4=p.Q232P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=505;refseq.spliceDist_2=505;refseq.spliceDist_3=505;refseq.spliceDist_4=505;refseq.start_1=57901425;refseq.start_2=57901425;refseq.start_3=57901425;refseq.start_4=57901425;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=FilteredInAll GT 1/0 chr19 57901511 . C A 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.401427;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.609G>T;refseq.codingCoordStr_2=c.609G>T;refseq.codingCoordStr_3=c.402G>T;refseq.codingCoordStr_4=c.609G>T;refseq.codonCoord_1=203;refseq.codonCoord_2=203;refseq.codonCoord_3=134;refseq.codonCoord_4=203;refseq.end_1=57901511;refseq.end_2=57901511;refseq.end_3=57901511;refseq.end_4=57901511;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=884;refseq.mrnaCoord_2=784;refseq.mrnaCoord_3=747;refseq.mrnaCoord_4=926;refseq.name2_1=ZNF611;refseq.name2_2=ZNF611;refseq.name2_3=ZNF611;refseq.name2_4=ZNF611;refseq.name_1=NM_001161499;refseq.name_2=NM_001161500;refseq.name_3=NM_001161501;refseq.name_4=NM_030972;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q203H;refseq.proteinCoordStr_2=p.Q203H;refseq.proteinCoordStr_3=p.Q134H;refseq.proteinCoordStr_4=p.Q203H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=419;refseq.spliceDist_2=419;refseq.spliceDist_3=419;refseq.spliceDist_4=419;refseq.start_1=57901511;refseq.start_2=57901511;refseq.start_3=57901511;refseq.start_4=57901511;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=soap GT 1/0 chr19 57901515 . G A 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.200933;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.605C>T;refseq.codingCoordStr_2=c.605C>T;refseq.codingCoordStr_3=c.398C>T;refseq.codingCoordStr_4=c.605C>T;refseq.codonCoord_1=202;refseq.codonCoord_2=202;refseq.codonCoord_3=133;refseq.codonCoord_4=202;refseq.end_1=57901515;refseq.end_2=57901515;refseq.end_3=57901515;refseq.end_4=57901515;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=880;refseq.mrnaCoord_2=780;refseq.mrnaCoord_3=743;refseq.mrnaCoord_4=922;refseq.name2_1=ZNF611;refseq.name2_2=ZNF611;refseq.name2_3=ZNF611;refseq.name2_4=ZNF611;refseq.name_1=NM_001161499;refseq.name_2=NM_001161500;refseq.name_3=NM_001161501;refseq.name_4=NM_030972;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T202I;refseq.proteinCoordStr_2=p.T202I;refseq.proteinCoordStr_3=p.T133I;refseq.proteinCoordStr_4=p.T202I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=415;refseq.spliceDist_2=415;refseq.spliceDist_3=415;refseq.spliceDist_4=415;refseq.start_1=57901515;refseq.start_2=57901515;refseq.start_3=57901515;refseq.start_4=57901515;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=FilteredInAll GT 1/0 chr19 57962196 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=746;Dels=0.00;HRun=0;HaplotypeScore=12.56;MQ=71.09;MQ0=238;OQ=19597.56;QD=26.27;RankSumP=1.00000;SB=-6432.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.625T>C;refseq.codonCoord=209;refseq.end=57962196;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=911;refseq.name=NM_198457;refseq.name2=ZNF600;refseq.positionType=CDS;refseq.proteinCoordStr=p.C209R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=642;refseq.start=57962196;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr19 57962333 . T G 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.417446;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.488A>C;refseq.codonCoord=163;refseq.end=57962333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_198457;refseq.name2=ZNF600;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q163P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=505;refseq.start=57962333;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chr19 57994753 . T G 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.297766;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1998A>C;refseq.codonCoord=666;refseq.end=57994753;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2395;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.*666C;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=2015;refseq.start=57994753;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr19 57994754 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=844;Dels=0.00;HRun=3;HaplotypeScore=40.28;MQ=64.92;MQ0=296;OQ=22289.11;QD=26.41;RankSumP=1.00000;SB=-10884.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1997G>A;refseq.codonCoord=666;refseq.end=57994754;refseq.frame=1;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2394;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.*666*;refseq.referenceAA=Stop;refseq.referenceCodon=TGA;refseq.spliceDist=2014;refseq.start=57994754;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap-filterIngatk GT 1/1 chr19 57995339 . A G 268.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=9.71;MQ=97.04;MQ0=0;OQ=15973.27;QD=37.76;RankSumP=1.00000;SB=-6328.89;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1412T>C;refseq.codonCoord=471;refseq.end=57995339;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1809;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.M471T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=1429;refseq.start=57995339;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr19 57995517 . T G 128.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=613;Dels=0.00;HRun=0;HaplotypeScore=8.55;MQ=98.27;MQ0=0;OQ=12425.78;QD=20.27;RankSumP=0.409754;SB=-4679.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1234A>C;refseq.codonCoord=412;refseq.end=57995517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1631;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.K412Q;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=1251;refseq.start=57995517;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr19 57996375 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=569;Dels=0.00;HRun=1;HaplotypeScore=6.90;MQ=52.78;MQ0=357;OQ=4113.34;QD=7.23;RankSumP=0.300562;SB=-1569.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.376A>G;refseq.codonCoord=126;refseq.end=57996375;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=773;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.R126G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=393;refseq.start=57996375;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr19 57996423 . G C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=674;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=70.51;MQ0=150;OQ=1032.94;QD=1.53;SB=-419.54;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.328C>G;refseq.codonCoord=110;refseq.end=57996423;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=725;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q110E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=345;refseq.start=57996423;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:595,78:513:-261.05,-154.47,-2311.77:99 chr19 57996439 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=769;Dels=0.00;HRun=3;HaplotypeScore=21.35;MQ=79.75;MQ0=81;OQ=273.19;QD=0.36;SB=-154.46;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.312A>G;refseq.codonCoord=104;refseq.end=57996439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=709;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.E104E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=329;refseq.start=57996439;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:689,79:666:-231.14,-200.54,-2706.66:99 chr19 57996444 . G A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=780;Dels=0.00;HRun=0;HaplotypeScore=24.08;MQ=82.53;MQ0=47;OQ=230.96;QD=0.30;SB=-116.99;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.307C>T;refseq.codonCoord=103;refseq.end=57996444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_006969;refseq.name2=ZNF28;refseq.positionType=CDS;refseq.proteinCoordStr=p.P103S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=324;refseq.start=57996444;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:704,76:709:-239.86,-213.48,-2761.63:99 chr19 58035863 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1204;Dels=0.00;HRun=1;HaplotypeScore=21.32;MQ=64.31;MQ0=383;OQ=15805.99;QD=13.13;RankSumP=0.196339;SB=-3931.12;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1496A>G;refseq.codingCoordStr_2=c.1337A>G;refseq.codonCoord_1=499;refseq.codonCoord_2=446;refseq.end_1=58035863;refseq.end_2=58035863;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1647;refseq.mrnaCoord_2=1765;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E499G;refseq.proteinCoordStr_2=p.E446G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=1354;refseq.spliceDist_2=1354;refseq.start_1=58035863;refseq.start_2=58035863;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chr19 58035930 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=746;Dels=0.00;HRun=1;HaplotypeScore=11.04;MQ=51.91;MQ0=183;OQ=2901.59;QD=3.89;RankSumP=0.482725;SB=-632.18;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1429G>C;refseq.codingCoordStr_2=c.1270G>C;refseq.codonCoord_1=477;refseq.codonCoord_2=424;refseq.end_1=58035930;refseq.end_2=58035930;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1580;refseq.mrnaCoord_2=1698;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G477R;refseq.proteinCoordStr_2=p.G424R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=1287;refseq.spliceDist_2=1287;refseq.start_1=58035930;refseq.start_2=58035930;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr19 58036238 . T C 159.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=575;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=96.04;MQ0=0;OQ=11793.13;QD=20.51;RankSumP=0.361400;SB=-4461.16;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1121A>G;refseq.codingCoordStr_2=c.962A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=321;refseq.end_1=58036238;refseq.end_2=58036238;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1272;refseq.mrnaCoord_2=1390;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H374R;refseq.proteinCoordStr_2=p.H321R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=979;refseq.spliceDist_2=979;refseq.start_1=58036238;refseq.start_2=58036238;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/0 chr19 58036513 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=659;Dels=0.00;HRun=0;HaplotypeScore=11.79;MQ=98.23;MQ0=1;OQ=13680.52;QD=20.76;RankSumP=0.354665;SB=-5148.57;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.846T>C;refseq.codingCoordStr_2=c.687T>C;refseq.codonCoord_1=282;refseq.codonCoord_2=229;refseq.end_1=58036513;refseq.end_2=58036513;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=997;refseq.mrnaCoord_2=1115;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H282H;refseq.proteinCoordStr_2=p.H229H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=704;refseq.spliceDist_2=704;refseq.start_1=58036513;refseq.start_2=58036513;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr19 58036872 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=461;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=66.63;MQ0=141;OQ=2960.56;QD=6.42;RankSumP=0.379611;SB=-660.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.487C>G;refseq.codingCoordStr_2=c.328C>G;refseq.codonCoord_1=163;refseq.codonCoord_2=110;refseq.end_1=58036872;refseq.end_2=58036872;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=638;refseq.mrnaCoord_2=756;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q163E;refseq.proteinCoordStr_2=p.Q110E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=345;refseq.spliceDist_2=345;refseq.start_1=58036872;refseq.start_2=58036872;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr19 58036888 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=536;Dels=0.00;HRun=3;HaplotypeScore=16.08;MQ=77.49;MQ0=92;OQ=5431.71;QD=10.13;RankSumP=0.194933;SB=-1300.91;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.471A>G;refseq.codingCoordStr_2=c.312A>G;refseq.codonCoord_1=157;refseq.codonCoord_2=104;refseq.end_1=58036888;refseq.end_2=58036888;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=622;refseq.mrnaCoord_2=740;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E157E;refseq.proteinCoordStr_2=p.E104E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=329;refseq.spliceDist_2=329;refseq.start_1=58036888;refseq.start_2=58036888;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chr19 58036907 rs61729939 G A 4.36 PASS AC=1;AF=0.50;AN=2;DB;DP=602;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=81.35;MQ0=94;OQ=5503.29;QD=9.14;SB=-1044.06;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.452C>T;refseq.codingCoordStr_2=c.293C>T;refseq.codonCoord_1=151;refseq.codonCoord_2=98;refseq.end_1=58036907;refseq.end_2=58036907;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=603;refseq.mrnaCoord_2=721;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P151L;refseq.proteinCoordStr_2=p.P98L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=310;refseq.spliceDist_2=310;refseq.start_1=58036907;refseq.start_2=58036907;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:382,218:500:-549.33,-154.48,-1472.28:99 chr19 58036922 . A G 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=674;Dels=0.00;HRun=0;HaplotypeScore=11.93;MQ=80.68;MQ0=82;OQ=7011.39;QD=10.40;RankSumP=0.255028;SB=-1796.63;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.437T>C;refseq.codingCoordStr_2=c.278T>C;refseq.codonCoord_1=146;refseq.codonCoord_2=93;refseq.end_1=58036922;refseq.end_2=58036922;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=588;refseq.mrnaCoord_2=706;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L146S;refseq.proteinCoordStr_2=p.L93S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=295;refseq.spliceDist_2=295;refseq.start_1=58036922;refseq.start_2=58036922;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 0/1 chr19 58036988 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=755;Dels=0.00;HRun=0;HaplotypeScore=18.53;MQ=72.75;MQ0=5;OQ=15405.06;QD=20.40;RankSumP=0.455465;SB=-6545.80;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.371G>A;refseq.codingCoordStr_2=c.212G>A;refseq.codonCoord_1=124;refseq.codonCoord_2=71;refseq.end_1=58036988;refseq.end_2=58036988;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=522;refseq.mrnaCoord_2=640;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G124D;refseq.proteinCoordStr_2=p.G71D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=229;refseq.spliceDist_2=229;refseq.start_1=58036988;refseq.start_2=58036988;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr19 58044171 . A G 288.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=517;Dels=0.00;HRun=0;HaplotypeScore=12.30;MQ=80.30;MQ0=6;OQ=9577.45;QD=18.53;RankSumP=0.405839;SB=-3363.39;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.123T>C;refseq.codingCoordStr_2=c.-155T>C;refseq.codonCoord_1=41;refseq.end_1=58044171;refseq.end_2=58044171;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=274;refseq.mrnaCoord_2=274;refseq.name2_1=ZNF468;refseq.name2_2=ZNF468;refseq.name_1=NM_001008801;refseq.name_2=NM_199132;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.Y41Y;refseq.referenceAA_1=Tyr;refseq.referenceCodon_1=TAT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=58044171;refseq.start_2=58044171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantCodon_1=TAC;set=Intersection GT 0/1 chr19 58075997 . C T 237.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=11.94;MQ=98.03;MQ0=0;OQ=12491.64;QD=41.64;RankSumP=1.00000;SB=-5718.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1194G>A;refseq.codonCoord=398;refseq.end=58075997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1385;refseq.name=NM_207333;refseq.name2=ZNF320;refseq.positionType=CDS;refseq.proteinCoordStr=p.A398A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=1052;refseq.start=58075997;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 58083232 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=549;Dels=0.00;HRun=1;HaplotypeScore=18.61;MQ=10.14;MQ0=527;OQ=321.56;QD=0.59;RankSumP=0.495152;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.102A>G;refseq.codonCoord=34;refseq.end=58083232;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_207333;refseq.name2=ZNF320;refseq.positionType=CDS;refseq.proteinCoordStr=p.R34R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-41;refseq.start=58083232;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap-filterIngatk GT 1/0 chr19 58083265 rs34416642 T C 0.17 PASS AC=1;AF=0.50;AN=2;DB;DP=406;Dels=0.00;HRun=0;HaplotypeScore=22.32;MQ=7.25;MQ0=400;OQ=124.95;QD=0.31;SB=-10.00;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.69A>G;refseq.codonCoord=23;refseq.end=58083265;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=260;refseq.name=NM_207333;refseq.name2=ZNF320;refseq.positionType=CDS;refseq.proteinCoordStr=p.K23K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=54;refseq.start=58083265;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 0/1:358,47:6:-17.58,-1.81,-9.33:75.28 chr19 58083298 . A G 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=10.31;MQ=7.11;MQ0=399;OQ=152.83;QD=0.38;RankSumP=0.406366;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.36T>C;refseq.codonCoord=12;refseq.end=58083298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_207333;refseq.name2=ZNF320;refseq.positionType=CDS;refseq.proteinCoordStr=p.D12D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=21;refseq.start=58083298;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 58083312 . G A 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.474530;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.22C>T;refseq.codonCoord=8;refseq.end=58083312;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_207333;refseq.name2=ZNF320;refseq.positionType=CDS;refseq.proteinCoordStr=p.L8L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=58083312;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=soap GT 1/0 chr19 58145589 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=517;Dels=0.00;HRun=2;HaplotypeScore=12.53;MQ=98.89;MQ0=0;OQ=9643.29;QD=18.65;RankSumP=0.313286;SB=-4044.10;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1251G>A;refseq.codonCoord=417;refseq.end=58145589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1552;refseq.name=NM_001031665;refseq.name2=ZNF816A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K417K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=1061;refseq.start=58145589;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr19 58146287 . C T 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.377305;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.553G>A;refseq.codonCoord=185;refseq.end=58146287;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_001031665;refseq.name2=ZNF816A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G185S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=363;refseq.start=58146287;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap GT 0/1 chr19 58146601 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=406;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=93.70;MQ0=5;OQ=9049.30;QD=22.29;RankSumP=0.462036;SB=-3067.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.239T>A;refseq.codonCoord=80;refseq.end=58146601;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_001031665;refseq.name2=ZNF816A;refseq.positionType=CDS;refseq.proteinCoordStr=p.I80N;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=49;refseq.start=58146601;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr19 58269231 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=693;Dels=0.00;HRun=2;HaplotypeScore=25.06;MQ=98.72;MQ0=0;OQ=31147.94;QD=44.95;RankSumP=1.00000;SB=-12642.98;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.245C>G;refseq.codingCoordStr_2=c.245C>G;refseq.codingCoordStr_3=c.245C>G;refseq.codonCoord_1=82;refseq.codonCoord_2=82;refseq.codonCoord_3=82;refseq.end_1=58269231;refseq.end_2=58269231;refseq.end_3=58269231;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=661;refseq.mrnaCoord_2=544;refseq.mrnaCoord_3=629;refseq.name2_1=ZNF160;refseq.name2_2=ZNF160;refseq.name2_3=ZNF160;refseq.name_1=NM_001102603;refseq.name_2=NM_033288;refseq.name_3=NM_198893;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P82R;refseq.proteinCoordStr_2=p.P82R;refseq.proteinCoordStr_3=p.P82R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=58269231;refseq.start_2=58269231;refseq.start_3=58269231;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr19 58304123 . T C 199.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=14.14;MQ=98.87;MQ0=0;OQ=4379.98;QD=18.56;RankSumP=0.365918;SB=-1586.86;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.987A>G;refseq.codingCoordStr_3=c.987A>G;refseq.codingCoordStr_4=c.987A>G;refseq.codonCoord_2=329;refseq.codonCoord_3=329;refseq.codonCoord_4=329;refseq.end_1=58304123;refseq.end_2=58304123;refseq.end_3=58304123;refseq.end_4=58304123;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1480;refseq.mrnaCoord_2=1351;refseq.mrnaCoord_3=1224;refseq.mrnaCoord_4=1091;refseq.name2_1=ZNF415;refseq.name2_2=ZNF415;refseq.name2_3=ZNF415;refseq.name2_4=ZNF415;refseq.name_1=NR_028343;refseq.name_2=NM_001136038;refseq.name_3=NM_001164309;refseq.name_4=NM_018355;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T329T;refseq.proteinCoordStr_3=p.T329T;refseq.proteinCoordStr_4=p.T329T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=851;refseq.spliceDist_2=851;refseq.spliceDist_3=851;refseq.spliceDist_4=851;refseq.start_1=58304123;refseq.start_2=58304123;refseq.start_3=58304123;refseq.start_4=58304123;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 1/0 chr19 58304532 . T C 327.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=326;Dels=0.00;HRun=0;HaplotypeScore=10.35;MQ=98.87;MQ0=0;OQ=6974.90;QD=21.40;RankSumP=0.360321;SB=-2841.04;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.578A>G;refseq.codingCoordStr_3=c.578A>G;refseq.codingCoordStr_4=c.578A>G;refseq.codonCoord_2=193;refseq.codonCoord_3=193;refseq.codonCoord_4=193;refseq.end_1=58304532;refseq.end_2=58304532;refseq.end_3=58304532;refseq.end_4=58304532;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1071;refseq.mrnaCoord_2=942;refseq.mrnaCoord_3=815;refseq.mrnaCoord_4=682;refseq.name2_1=ZNF415;refseq.name2_2=ZNF415;refseq.name2_3=ZNF415;refseq.name2_4=ZNF415;refseq.name_1=NR_028343;refseq.name_2=NM_001136038;refseq.name_3=NM_001164309;refseq.name_4=NM_018355;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y193C;refseq.proteinCoordStr_3=p.Y193C;refseq.proteinCoordStr_4=p.Y193C;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=442;refseq.spliceDist_2=442;refseq.spliceDist_3=442;refseq.spliceDist_4=442;refseq.start_1=58304532;refseq.start_2=58304532;refseq.start_3=58304532;refseq.start_4=58304532;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_2=TGT;refseq.variantCodon_3=TGT;refseq.variantCodon_4=TGT;set=Intersection GT 1/0 chr19 58304557 . T C 285.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=98.85;MQ0=0;OQ=7216.16;QD=21.10;RankSumP=0.265892;SB=-3102.81;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.553A>G;refseq.codingCoordStr_3=c.553A>G;refseq.codingCoordStr_4=c.553A>G;refseq.codonCoord_2=185;refseq.codonCoord_3=185;refseq.codonCoord_4=185;refseq.end_1=58304557;refseq.end_2=58304557;refseq.end_3=58304557;refseq.end_4=58304557;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1046;refseq.mrnaCoord_2=917;refseq.mrnaCoord_3=790;refseq.mrnaCoord_4=657;refseq.name2_1=ZNF415;refseq.name2_2=ZNF415;refseq.name2_3=ZNF415;refseq.name2_4=ZNF415;refseq.name_1=NR_028343;refseq.name_2=NM_001136038;refseq.name_3=NM_001164309;refseq.name_4=NM_018355;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I185V;refseq.proteinCoordStr_3=p.I185V;refseq.proteinCoordStr_4=p.I185V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=417;refseq.spliceDist_2=417;refseq.spliceDist_3=417;refseq.spliceDist_4=417;refseq.start_1=58304557;refseq.start_2=58304557;refseq.start_3=58304557;refseq.start_4=58304557;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;set=Intersection GT 1/0 chr19 58304569 . T G 278.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=375;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.87;MQ0=0;OQ=8258.44;QD=22.02;RankSumP=0.0964830;SB=-3276.78;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.541A>C;refseq.codingCoordStr_3=c.541A>C;refseq.codingCoordStr_4=c.541A>C;refseq.codonCoord_2=181;refseq.codonCoord_3=181;refseq.codonCoord_4=181;refseq.end_1=58304569;refseq.end_2=58304569;refseq.end_3=58304569;refseq.end_4=58304569;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1034;refseq.mrnaCoord_2=905;refseq.mrnaCoord_3=778;refseq.mrnaCoord_4=645;refseq.name2_1=ZNF415;refseq.name2_2=ZNF415;refseq.name2_3=ZNF415;refseq.name2_4=ZNF415;refseq.name_1=NR_028343;refseq.name_2=NM_001136038;refseq.name_3=NM_001164309;refseq.name_4=NM_018355;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.I181L;refseq.proteinCoordStr_3=p.I181L;refseq.proteinCoordStr_4=p.I181L;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=405;refseq.spliceDist_2=405;refseq.spliceDist_3=405;refseq.spliceDist_4=405;refseq.start_1=58304569;refseq.start_2=58304569;refseq.start_3=58304569;refseq.start_4=58304569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;refseq.variantCodon_4=CTT;set=Intersection GT 1/0 chr19 58304801 . A G 253.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=98.88;MQ0=0;OQ=6317.72;QD=17.95;RankSumP=0.483624;SB=-2585.90;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_2=c.309T>C;refseq.codingCoordStr_3=c.309T>C;refseq.codingCoordStr_4=c.309T>C;refseq.codonCoord_2=103;refseq.codonCoord_3=103;refseq.codonCoord_4=103;refseq.end_1=58304801;refseq.end_2=58304801;refseq.end_3=58304801;refseq.end_4=58304801;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=802;refseq.mrnaCoord_2=673;refseq.mrnaCoord_3=546;refseq.mrnaCoord_4=413;refseq.name2_1=ZNF415;refseq.name2_2=ZNF415;refseq.name2_3=ZNF415;refseq.name2_4=ZNF415;refseq.name_1=NR_028343;refseq.name_2=NM_001136038;refseq.name_3=NM_001164309;refseq.name_4=NM_018355;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D103D;refseq.proteinCoordStr_3=p.D103D;refseq.proteinCoordStr_4=p.D103D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=173;refseq.spliceDist_2=173;refseq.spliceDist_3=173;refseq.spliceDist_4=173;refseq.start_1=58304801;refseq.start_2=58304801;refseq.start_3=58304801;refseq.start_4=58304801;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 0/1 chr19 58337103 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=676;Dels=0.00;HRun=0;HaplotypeScore=12.86;MQ=98.76;MQ0=0;OQ=28825.06;QD=42.64;RankSumP=1.00000;SB=-11919.45;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.793A>G;refseq.codingCoordStr_2=c.793A>G;refseq.codingCoordStr_3=c.790A>G;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.codonCoord_3=264;refseq.end_1=58337103;refseq.end_2=58337103;refseq.end_3=58337103;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1220;refseq.mrnaCoord_2=900;refseq.mrnaCoord_3=897;refseq.name2_1=ZNF347;refseq.name2_2=ZNF347;refseq.name2_3=ZNF347;refseq.name_1=NM_001172674;refseq.name_2=NM_001172675;refseq.name_3=NM_032584;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N265D;refseq.proteinCoordStr_2=p.N265D;refseq.proteinCoordStr_3=p.N264D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=519;refseq.spliceDist_2=519;refseq.spliceDist_3=519;refseq.start_1=58337103;refseq.start_2=58337103;refseq.start_3=58337103;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr19 58432634 . T C 183.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.88;MQ0=0;OQ=6311.18;QD=16.87;RankSumP=0.481793;SB=-2418.86;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1158A>G;refseq.codonCoord=386;refseq.end=58432634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1309;refseq.name=NM_182609;refseq.name2=ZNF677;refseq.positionType=CDS;refseq.proteinCoordStr=p.E386E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=989;refseq.start=58432634;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr19 58432880 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=439;Dels=0.00;HRun=2;HaplotypeScore=5.21;MQ=98.84;MQ0=0;OQ=8034.48;QD=18.30;RankSumP=0.349838;SB=-3042.23;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.912G>A;refseq.codonCoord=304;refseq.end=58432880;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1063;refseq.name=NM_182609;refseq.name2=ZNF677;refseq.positionType=CDS;refseq.proteinCoordStr=p.S304S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=743;refseq.start=58432880;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 58433000 . C T 124.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=253;Dels=0.00;HRun=2;HaplotypeScore=2.99;MQ=99.00;MQ0=0;OQ=4823.71;QD=19.07;RankSumP=0.483980;SB=-1268.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.792G>A;refseq.codonCoord=264;refseq.end=58433000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=943;refseq.name=NM_182609;refseq.name2=ZNF677;refseq.positionType=CDS;refseq.proteinCoordStr=p.K264K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=623;refseq.start=58433000;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr19 58484854 . G A 194.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=8.63;MQ=97.78;MQ0=0;OQ=2032.82;QD=39.09;RankSumP=1.00000;SB=-992.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.586C>T;refseq.codonCoord=196;refseq.end=58484854;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1834;refseq.name=NM_033341;refseq.name2=BIRC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H196Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-189;refseq.start=58484854;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr19 58485386 . A G 299.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=98.76;MQ0=0;OQ=10786.51;QD=42.13;RankSumP=1.00000;SB=-4726.86;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.54T>C;refseq.codonCoord=18;refseq.end=58485386;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_033341;refseq.name2=BIRC8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V18V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-721;refseq.start=58485386;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr19 58650075 . G A 370 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=6.30;MQ=89.28;MQ0=9;OQ=5126.36;QD=19.34;RankSumP=0.162311;SB=-1815.27;SecondBestBaseQ=33;set=Intersection GT 1/0 chr19 58771956 . A G 211.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=98.92;MQ0=0;OQ=11878.46;QD=40.96;RankSumP=1.00000;SB=-5749.64;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.330A>G;refseq.codingCoordStr_2=c.330A>G;refseq.codingCoordStr_3=c.330A>G;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.codonCoord_3=110;refseq.end_1=58771956;refseq.end_2=58771956;refseq.end_3=58771956;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=752;refseq.mrnaCoord_2=772;refseq.mrnaCoord_3=1764;refseq.name2_1=ZNF331;refseq.name2_2=ZNF331;refseq.name2_3=ZNF331;refseq.name_1=NM_001079906;refseq.name_2=NM_001079907;refseq.name_3=NM_018555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R110R;refseq.proteinCoordStr_2=p.R110R;refseq.proteinCoordStr_3=p.R110R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=194;refseq.spliceDist_2=194;refseq.spliceDist_3=194;refseq.start_1=58771956;refseq.start_2=58771956;refseq.start_3=58771956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr19 58772091 . T C 413.61 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4538.41;QD=38.14;RankSumP=1.00000;SB=-1657.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.465T>C;refseq.codingCoordStr_2=c.465T>C;refseq.codingCoordStr_3=c.465T>C;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.codonCoord_3=155;refseq.end_1=58772091;refseq.end_2=58772091;refseq.end_3=58772091;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=887;refseq.mrnaCoord_2=907;refseq.mrnaCoord_3=1899;refseq.name2_1=ZNF331;refseq.name2_2=ZNF331;refseq.name2_3=ZNF331;refseq.name_1=NM_001079906;refseq.name_2=NM_001079907;refseq.name_3=NM_018555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G155G;refseq.proteinCoordStr_2=p.G155G;refseq.proteinCoordStr_3=p.G155G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=329;refseq.spliceDist_2=329;refseq.spliceDist_3=329;refseq.start_1=58772091;refseq.start_2=58772091;refseq.start_3=58772091;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr19 58772592 . C T 306.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=5.54;MQ=98.69;MQ0=0;OQ=7315.66;QD=38.50;RankSumP=1.00000;SB=-1858.99;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.966C>T;refseq.codingCoordStr_2=c.966C>T;refseq.codingCoordStr_3=c.966C>T;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.codonCoord_3=322;refseq.end_1=58772592;refseq.end_2=58772592;refseq.end_3=58772592;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1388;refseq.mrnaCoord_2=1408;refseq.mrnaCoord_3=2400;refseq.name2_1=ZNF331;refseq.name2_2=ZNF331;refseq.name2_3=ZNF331;refseq.name_1=NM_001079906;refseq.name_2=NM_001079907;refseq.name_3=NM_018555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T322T;refseq.proteinCoordStr_2=p.T322T;refseq.proteinCoordStr_3=p.T322T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=830;refseq.spliceDist_2=830;refseq.spliceDist_3=830;refseq.start_1=58772592;refseq.start_2=58772592;refseq.start_3=58772592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/1 chr19 58772811 . A G 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=4207.27;QD=38.60;RankSumP=1.00000;SB=-1704.44;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1185A>G;refseq.codingCoordStr_2=c.1185A>G;refseq.codingCoordStr_3=c.1185A>G;refseq.codonCoord_1=395;refseq.codonCoord_2=395;refseq.codonCoord_3=395;refseq.end_1=58772811;refseq.end_2=58772811;refseq.end_3=58772811;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1607;refseq.mrnaCoord_2=1627;refseq.mrnaCoord_3=2619;refseq.name2_1=ZNF331;refseq.name2_2=ZNF331;refseq.name2_3=ZNF331;refseq.name_1=NM_001079906;refseq.name_2=NM_001079907;refseq.name_3=NM_018555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G395G;refseq.proteinCoordStr_2=p.G395G;refseq.proteinCoordStr_3=p.G395G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=1049;refseq.spliceDist_2=1049;refseq.spliceDist_3=1049;refseq.start_1=58772811;refseq.start_2=58772811;refseq.start_3=58772811;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/1 chr19 58999134 . G A,T 99 PASS AC=1,1;AF=0.50,0.50;AN=2;BestBaseQ=27;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=11.88;MQ=98.50;MQ0=0;OQ=6327.47;QD=32.12;RankSumP=0.327675;SB=-1067.09;SecondBestBaseQ=27;set=Intersection GT 1/2 chr19 59000366 . C T 334.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=98.86;MQ0=0;OQ=9765.71;QD=40.69;RankSumP=1.00000;SB=-3932.18;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.243G>A;refseq.codingCoordStr_2=c.2394G>A;refseq.codonCoord_1=81;refseq.codonCoord_2=798;refseq.end_1=59000366;refseq.end_2=59000366;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1552;refseq.mrnaCoord_2=2614;refseq.name2_1=NLRP12;refseq.name2_2=NLRP12;refseq.name_1=NM_033297;refseq.name_2=NM_144687;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q81Q;refseq.proteinCoordStr_2=p.Q798Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=59000366;refseq.start_2=59000366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr19 59005050 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1675A>C;refseq.codonCoord=559;refseq.end=59005050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1895;refseq.name=NM_144687;refseq.name2=NLRP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T559P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-398;refseq.start=59005050;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 59005491 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1234A>C;refseq.codonCoord=412;refseq.end=59005491;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1454;refseq.name=NM_144687;refseq.name2=NLRP12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T412P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-839;refseq.start=59005491;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 59077632 . C T 395.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.78;MQ0=0;OQ=2176.15;QD=37.52;RankSumP=1.00000;SB=-825.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.72C>T;refseq.codonCoord=24;refseq.end=59077632;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=354;refseq.name=NM_002739;refseq.name2=PRKCG;refseq.positionType=CDS;refseq.proteinCoordStr=p.A24A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-99;refseq.start=59077632;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr19 59175002 . T G 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.0477365;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.437T>G;refseq.codonCoord=146;refseq.end=59175002;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=540;refseq.name=NM_031895;refseq.name2=CACNG8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V146G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=70;refseq.start=59175002;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr19 59207227 . G C 135.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=15.70;MQ=98.37;MQ0=0;OQ=5995.19;QD=21.41;RankSumP=0.202499;SB=-1697.33;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.542G>C;refseq.codingCoordStr_2=c.755G>C;refseq.codingCoordStr_3=c.617G>C;refseq.codonCoord_1=181;refseq.codonCoord_2=252;refseq.codonCoord_3=206;refseq.end_1=59207227;refseq.end_2=59207227;refseq.end_3=59207227;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1132;refseq.mrnaCoord_2=1345;refseq.mrnaCoord_3=1207;refseq.name2_1=CACNG6;refseq.name2_2=CACNG6;refseq.name2_3=CACNG6;refseq.name_1=NM_031897;refseq.name_2=NM_145814;refseq.name_3=NM_145815;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C181S;refseq.proteinCoordStr_2=p.C252S;refseq.proteinCoordStr_3=p.C206S;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.spliceDist_1=211;refseq.spliceDist_2=211;refseq.spliceDist_3=211;refseq.start_1=59207227;refseq.start_2=59207227;refseq.start_3=59207227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chr19 59236998 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=285;Dels=0.00;HRun=0;HaplotypeScore=11.66;MQ=98.70;MQ0=0;OQ=4849.27;QD=17.01;RankSumP=0.261526;SB=-1840.33;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.537G>A;refseq.codonCoord=179;refseq.end=59236998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_198481;refseq.name2=VSTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P179P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-17;refseq.start=59236998;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr19 59237343 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=96.85;MQ0=0;OQ=375.64;QD=8.74;RankSumP=0.574058;SB=-70.29;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.487A>G;refseq.codonCoord=163;refseq.end=59237343;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_198481;refseq.name2=VSTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S163G;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=59237343;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr19 59253604 . G A 144.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=16.54;MQ=98.81;MQ0=0;OQ=3192.04;QD=17.93;RankSumP=0.370317;SB=-586.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.123C>T;refseq.codonCoord=41;refseq.end=59253604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_198481;refseq.name2=VSTM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A41A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=53;refseq.start=59253604;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr19 59292044 . A C 350.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.01;MQ0=0;OQ=1662.48;QD=35.37;RankSumP=1.00000;SB=-730.11;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.302T>G;refseq.codingCoordStr_2=c.257T>G;refseq.codingCoordStr_3=c.290T>G;refseq.codingCoordStr_4=c.302T>G;refseq.codonCoord_1=101;refseq.codonCoord_2=86;refseq.codonCoord_3=97;refseq.codonCoord_4=101;refseq.end_1=59292044;refseq.end_2=59292044;refseq.end_3=59292044;refseq.end_4=59292044;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=367;refseq.mrnaCoord_2=322;refseq.mrnaCoord_3=355;refseq.mrnaCoord_4=367;refseq.name2_1=OSCAR;refseq.name2_2=OSCAR;refseq.name2_3=OSCAR;refseq.name2_4=OSCAR;refseq.name_1=NM_130771;refseq.name_2=NM_133168;refseq.name_3=NM_133169;refseq.name_4=NM_206818;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I101S;refseq.proteinCoordStr_2=p.I86S;refseq.proteinCoordStr_3=p.I97S;refseq.proteinCoordStr_4=p.I101S;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.spliceDist_1=-84;refseq.spliceDist_2=-84;refseq.spliceDist_3=-84;refseq.spliceDist_4=-84;refseq.start_1=59292044;refseq.start_2=59292044;refseq.start_3=59292044;refseq.start_4=59292044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 1/1 chr19 59301982 . C T 122.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=96.97;MQ0=0;OQ=1390.25;QD=14.79;RankSumP=0.0267680;SB=-628.29;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.216C>T;refseq.codonCoord=72;refseq.end=59301982;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_004542;refseq.name2=NDUFA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D72D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=53;refseq.start=59301982;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr19 59318976 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=6.20;MQ=97.49;MQ0=0;OQ=314.32;QD=12.09;RankSumP=0.687747;SB=-122.62;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.564G>A;refseq.codonCoord=188;refseq.end=59318976;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=960;refseq.name=NM_015629;refseq.name2=PRPF31;refseq.positionType=CDS;refseq.proteinCoordStr=p.E188E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=37;refseq.start=59318976;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chr19 59341483 . T C 63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=91;Dels=0.00;HRun=4;HaplotypeScore=9.80;MQ=97.87;MQ0=0;OQ=2284.22;QD=25.10;RankSumP=1.00000;SB=-1134.93;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.729T>C;refseq.codonCoord=243;refseq.end=59341483;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1040;refseq.name=NM_014516;refseq.name2=CNOT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P243P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=26;refseq.start=59341483;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 59344015 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=97.07;MQ0=0;OQ=242.35;QD=12.12;RankSumP=0.274481;SB=-44.67;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1215T>C;refseq.codonCoord=405;refseq.end=59344015;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1526;refseq.name=NM_014516;refseq.name2=CNOT3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G405G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-68;refseq.start=59344015;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 59356021 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.03;MQ0=0;OQ=615.10;QD=13.67;RankSumP=0.370398;SB=-37.87;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.2065C>G;refseq.codingCoordStr_2=c.2047C>G;refseq.codonCoord_1=689;refseq.codonCoord_2=683;refseq.end_1=59356021;refseq.end_2=59356021;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2197;refseq.mrnaCoord_2=2179;refseq.name2_1=TMC4;refseq.name2_2=TMC4;refseq.name_1=NM_001145303;refseq.name_2=NM_144686;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q689E;refseq.proteinCoordStr_2=p.Q683E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=59356021;refseq.start_2=59356021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr19 59356564 . A C 352.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=99.00;MQ0=0;OQ=3945.47;QD=20.13;RankSumP=0.382386;SB=-1527.14;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1854T>G;refseq.codingCoordStr_2=c.1836T>G;refseq.codonCoord_1=618;refseq.codonCoord_2=612;refseq.end_1=59356564;refseq.end_2=59356564;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1986;refseq.mrnaCoord_2=1968;refseq.name2_1=TMC4;refseq.name2_2=TMC4;refseq.name_1=NM_001145303;refseq.name_2=NM_144686;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L618L;refseq.proteinCoordStr_2=p.L612L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=59356564;refseq.start_2=59356564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr19 59368566 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.59C>G;refseq.codingCoordStr_2=c.59C>G;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=59368566;refseq.end_2=59368566;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=191;refseq.mrnaCoord_2=191;refseq.name2_1=TMC4;refseq.name2_2=TMC4;refseq.name_1=NM_001145303;refseq.name_2=NM_144686;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A20G;refseq.proteinCoordStr_2=p.A20G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=59368566;refseq.start_2=59368566;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr19 59368575 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=14.78;MQ=95.99;MQ0=0;OQ=1775.44;QD=10.63;RankSumP=0.452220;SB=-675.28;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.50G>A;refseq.codingCoordStr_2=c.50G>A;refseq.codonCoord_1=17;refseq.codonCoord_2=17;refseq.end_1=59368575;refseq.end_2=59368575;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=182;refseq.mrnaCoord_2=182;refseq.name2_1=TMC4;refseq.name2_2=TMC4;refseq.name_1=NM_001145303;refseq.name_2=NM_144686;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G17E;refseq.proteinCoordStr_2=p.G17E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=59368575;refseq.start_2=59368575;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 0/1 chr19 59369571 . T C 239.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.94;MQ0=0;OQ=1670.74;QD=36.32;RankSumP=1.00000;SB=-824.67;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1179A>G;refseq.codingCoordStr_2=c.1179A>G;refseq.codingCoordStr_3=c.1398A>G;refseq.codonCoord_1=393;refseq.codonCoord_2=393;refseq.codonCoord_3=466;refseq.end_1=59369571;refseq.end_2=59369571;refseq.end_3=59369571;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1740;refseq.mrnaCoord_2=1819;refseq.mrnaCoord_3=1946;refseq.name2_1=MBOAT7;refseq.name2_2=MBOAT7;refseq.name2_3=MBOAT7;refseq.name_1=NM_001146056;refseq.name_2=NM_001146083;refseq.name_3=NM_024298;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P393P;refseq.proteinCoordStr_2=p.P393P;refseq.proteinCoordStr_3=p.P466P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=367;refseq.spliceDist_2=367;refseq.spliceDist_3=367;refseq.start_1=59369571;refseq.start_2=59369571;refseq.start_3=59369571;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/1 chr19 59369709 . G A 306.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=7.55;MQ=98.05;MQ0=0;OQ=2317.07;QD=18.54;RankSumP=0.100979;SB=-870.80;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1041C>T;refseq.codingCoordStr_2=c.1041C>T;refseq.codingCoordStr_3=c.1260C>T;refseq.codonCoord_1=347;refseq.codonCoord_2=347;refseq.codonCoord_3=420;refseq.end_1=59369709;refseq.end_2=59369709;refseq.end_3=59369709;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1602;refseq.mrnaCoord_2=1681;refseq.mrnaCoord_3=1808;refseq.name2_1=MBOAT7;refseq.name2_2=MBOAT7;refseq.name2_3=MBOAT7;refseq.name_1=NM_001146056;refseq.name_2=NM_001146083;refseq.name_3=NM_024298;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A347A;refseq.proteinCoordStr_2=p.A347A;refseq.proteinCoordStr_3=p.A420A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=229;refseq.spliceDist_2=229;refseq.spliceDist_3=229;refseq.start_1=59369709;refseq.start_2=59369709;refseq.start_3=59369709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 1/0 chr19 59388891 . C T 305.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=6.06;MQ=98.32;MQ0=0;OQ=9854.89;QD=41.76;RankSumP=1.00000;SB=-4894.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.795C>T;refseq.codingCoordStr_2=c.795C>T;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.end_1=59388891;refseq.end_2=59388891;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=907;refseq.mrnaCoord_2=982;refseq.name2_1=TSEN34;refseq.name2_2=TSEN34;refseq.name_1=NM_001077446;refseq.name_2=NM_024075;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P265P;refseq.proteinCoordStr_2=p.P265P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=59388891;refseq.start_2=59388891;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 59413028 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.115767;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1724T>C;refseq.codingCoordStr_2=c.1721T>C;refseq.codonCoord_1=575;refseq.codonCoord_2=574;refseq.end_1=59413028;refseq.end_2=59413028;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1835;refseq.mrnaCoord_2=1832;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V575A;refseq.proteinCoordStr_2=p.V574A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.start_1=59413028;refseq.start_2=59413028;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 0/1 chr19 59413099 . A T 0.14 PASS AC=1;AF=0.50;AN=2;DP=417;Dels=0.00;HRun=0;HaplotypeScore=9.22;MQ=52.93;MQ0=52;OQ=2109.76;QD=5.06;SB=-502.54;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1653T>A;refseq.codingCoordStr_2=c.1650T>A;refseq.codonCoord_1=551;refseq.codonCoord_2=550;refseq.end_1=59413099;refseq.end_2=59413099;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1764;refseq.mrnaCoord_2=1761;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S551R;refseq.proteinCoordStr_2=p.S550R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=60;refseq.spliceDist_2=57;refseq.start_1=59413099;refseq.start_2=59413099;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=gatk GT:AD:DP:GL:GQ 0/1:278,136:344:-317.86,-103.60,-1024.82:99 chr19 59416219 . C T 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=26;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1249G>A;refseq.codingCoordStr_2=c.1249G>A;refseq.codonCoord_1=417;refseq.codonCoord_2=417;refseq.end_1=59416219;refseq.end_2=59416219;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1360;refseq.mrnaCoord_2=1360;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V417M;refseq.proteinCoordStr_2=p.V417M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=59416219;refseq.start_2=59416219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/1 chr19 59416223 . C T 17 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=24;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1245G>A;refseq.codingCoordStr_2=c.1245G>A;refseq.codonCoord_1=415;refseq.codonCoord_2=415;refseq.end_1=59416223;refseq.end_2=59416223;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1356;refseq.mrnaCoord_2=1356;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E415E;refseq.proteinCoordStr_2=p.E415E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=59416223;refseq.start_2=59416223;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/1 chr19 59416242 . T A 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=18.00;MQ0=77;OQ=119.82;QD=1.26;RankSumP=0.0439560;SB=-47.99;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1226A>T;refseq.codingCoordStr_2=c.1226A>T;refseq.codonCoord_1=409;refseq.codonCoord_2=409;refseq.end_1=59416242;refseq.end_2=59416242;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1337;refseq.mrnaCoord_2=1337;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H409L;refseq.proteinCoordStr_2=p.H409L;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=59416242;refseq.start_2=59416242;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=FilteredInAll GT 1/0 chr19 59416243 rs1132605 G A 0.05 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=17.97;MQ0=78;OQ=133.00;QD=1.40;SB=-51.67;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1225C>T;refseq.codingCoordStr_2=c.1225C>T;refseq.codonCoord_1=409;refseq.codonCoord_2=409;refseq.end_1=59416243;refseq.end_2=59416243;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1336;refseq.mrnaCoord_2=1336;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H409Y;refseq.proteinCoordStr_2=p.H409Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=59416243;refseq.start_2=59416243;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=gatk GT:AD:DP:GL:GQ 1/1:44,51:4:-16.83,-1.20,-0.00:12.04 chr19 59416255 . G A 45.23 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=16.77;MQ0=110;QD=0.37;SB=-3.98;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1213C>T;refseq.codingCoordStr_2=c.1213C>T;refseq.codonCoord_1=405;refseq.codonCoord_2=405;refseq.end_1=59416255;refseq.end_2=59416255;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1324;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H405Y;refseq.proteinCoordStr_2=p.H405Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.start_1=59416255;refseq.start_2=59416255;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:69,52:4:-9.01,-1.20,-8.29:70.88 chr19 59416269 . T C 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.0754462;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1199A>G;refseq.codingCoordStr_2=c.1199A>G;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=59416269;refseq.end_2=59416269;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1310;refseq.mrnaCoord_2=1310;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y400C;refseq.proteinCoordStr_2=p.Y400C;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=59416269;refseq.start_2=59416269;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=soap GT 1/0 chr19 59416270 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.464901;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1198T>C;refseq.codingCoordStr_2=c.1198T>C;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=59416270;refseq.end_2=59416270;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1309;refseq.mrnaCoord_2=1309;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y400H;refseq.proteinCoordStr_2=p.Y400H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=59416270;refseq.start_2=59416270;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=soap GT 0/1 chr19 59417792 . G A 0.40 PASS AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=9.07;MQ=41.14;MQ0=35;OQ=360.89;QD=7.85;SB=-81.30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.378C>T;refseq.codingCoordStr_2=c.378C>T;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.end_1=59417792;refseq.end_2=59417792;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=489;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L126L;refseq.proteinCoordStr_2=p.L126L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=59417792;refseq.start_2=59417792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=gatk GT:AD:DP:GL:GQ 1/1:20,26:10:-39.68,-3.02,-0.01:30.09 chr19 59417804 . G A 2.15 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=43.52;MQ0=34;OQ=573.92;QD=9.90;SB=-167.67;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.366C>T;refseq.codingCoordStr_2=c.366C>T;refseq.codonCoord_1=122;refseq.codonCoord_2=122;refseq.end_1=59417804;refseq.end_2=59417804;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=477;refseq.mrnaCoord_2=477;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S122S;refseq.proteinCoordStr_2=p.S122S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=59417804;refseq.start_2=59417804;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=gatk GT:AD:DP:GL:GQ 1/1:3,55:15:-60.98,-4.52,-0.00:45.15 chr19 59417974 . T G 9 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.343A>C;refseq.codingCoordStr_2=c.343A>C;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=59417974;refseq.end_2=59417974;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=454;refseq.mrnaCoord_2=454;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M115L;refseq.proteinCoordStr_2=p.M115L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=59417974;refseq.start_2=59417974;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=FilteredInAll GT 1/1 chr19 59418038 . T C 12 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=24;DP=179;Dels=0.00;HRun=3;HaplotypeScore=37.93;MQ=26.45;MQ0=27;OQ=3371.64;QD=18.84;RankSumP=1.00000;SB=-1143.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.279A>G;refseq.codingCoordStr_2=c.279A>G;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.end_1=59418038;refseq.end_2=59418038;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=390;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A93A;refseq.proteinCoordStr_2=p.A93A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-77;refseq.spliceDist_2=-77;refseq.start_1=59418038;refseq.start_2=59418038;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=FilteredInAll GT 1/1 chr19 59418136 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=11.88;MQ0=52;OQ=66.76;QD=1.19;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.181C>G;refseq.codingCoordStr_2=c.181C>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.end_1=59418136;refseq.end_2=59418136;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=292;refseq.mrnaCoord_2=292;refseq.name2_1=LILRB3;refseq.name2_2=LILRB3;refseq.name_1=NM_001081450;refseq.name_2=NM_006864;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H61D;refseq.proteinCoordStr_2=p.H61D;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=111;refseq.spliceDist_2=111;refseq.start_1=59418136;refseq.start_2=59418136;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=FilteredInAll GT 0/1 chr19 59435971 . T C 38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.157514;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1249A>G;refseq.codonCoord=417;refseq.end=59435971;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1373;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M417V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=59435971;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 1/0 chr19 59435975 . T C 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.369638;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1245A>G;refseq.codonCoord=415;refseq.end=59435975;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1369;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E415E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-14;refseq.start=59435975;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chr19 59436007 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=524;Dels=0.00;HRun=0;HaplotypeScore=16.94;MQ=71.19;MQ0=151;OQ=633.19;QD=1.21;RankSumP=0.0885701;SB=-302.07;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1213C>T;refseq.codonCoord=405;refseq.end=59436007;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1337;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H405Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-46;refseq.start=59436007;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr19 59436021 . T C 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.474640;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1199A>G;refseq.codonCoord=400;refseq.end=59436021;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1323;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y400C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-60;refseq.start=59436021;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr19 59436022 . A G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.258028;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1198T>C;refseq.codonCoord=400;refseq.end=59436022;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1322;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y400H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-61;refseq.start=59436022;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap GT 0/1 chr19 59436173 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=470;Dels=0.00;HRun=4;HaplotypeScore=19.14;MQ=86.93;MQ0=14;OQ=2629.15;QD=5.59;RankSumP=0.222442;SB=-1012.17;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1047T>G;refseq.codonCoord=349;refseq.end=59436173;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G349G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=92;refseq.start=59436173;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 0/1 chr19 59436199 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=394;Dels=0.00;HRun=0;HaplotypeScore=21.68;MQ=75.69;MQ0=96;OQ=1739.68;QD=4.42;RankSumP=0.470531;SB=-556.15;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1021G>A;refseq.codonCoord=341;refseq.end=59436199;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1145;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V341M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=66;refseq.start=59436199;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr19 59436606 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00198864;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.868C>T;refseq.codonCoord=290;refseq.end=59436606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.H290Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-88;refseq.start=59436606;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT 1/0 chr19 59436611 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.0425035;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.863C>G;refseq.codonCoord=288;refseq.end=59436611;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=987;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P288R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-93;refseq.start=59436611;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap GT 0/1 chr19 59437308 . C T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=753;Dels=0.00;HRun=0;HaplotypeScore=22.41;MQ=21.03;MQ0=208;OQ=5459.47;QD=7.25;RankSumP=0.666667;SB=-1253.18;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.614G>A;refseq.codonCoord=205;refseq.end=59437308;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=738;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.R205Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-45;refseq.start=59437308;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 59437719 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=702;Dels=0.00;HRun=0;HaplotypeScore=22.04;MQ=29.39;MQ0=108;OQ=1073.54;QD=1.53;RankSumP=0.0189344;SB=-10.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.350T>C;refseq.codonCoord=117;refseq.end=59437719;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=474;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M117T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=59437719;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr19 59437863 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1004;Dels=0.00;HRun=2;HaplotypeScore=45.00;MQ=40.45;MQ0=362;OQ=2984.14;QD=2.97;RankSumP=0.430841;SB=-1099.48;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.206T>G;refseq.codonCoord=69;refseq.end=59437863;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=330;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L69W;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=136;refseq.start=59437863;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=soap-filterIngatk GT 0/1 chr19 59437893 rs28445220 T C 0.34 PASS AC=1;AF=0.50;AN=2;DB;DP=673;Dels=0.00;HRun=0;HaplotypeScore=15.24;MQ=47.09;MQ0=131;OQ=301.30;QD=0.45;SB=52.66;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.176A>G;refseq.codonCoord=59;refseq.end=59437893;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=300;refseq.name=NM_024318;refseq.name2=LILRA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q59R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=106;refseq.start=59437893;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=gatk GT:AD:DP:GL:GQ 0/1:581,92:515:-188.51,-155.10,-1999.36:99 chr19 59446564 . T C 118.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=6.59;MQ=49.18;MQ0=58;OQ=2032.85;QD=14.73;RankSumP=1.00000;SB=-71.48;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1674A>G;refseq.codingCoordStr_2=c.1374A>G;refseq.codingCoordStr_3=c.1671A>G;refseq.codonCoord_1=558;refseq.codonCoord_2=458;refseq.codonCoord_3=557;refseq.end_1=59446564;refseq.end_2=59446564;refseq.end_3=59446564;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1785;refseq.mrnaCoord_2=1485;refseq.mrnaCoord_3=1782;refseq.name2_1=LILRB5;refseq.name2_2=LILRB5;refseq.name2_3=LILRB5;refseq.name_1=NM_001081442;refseq.name_2=NM_001081443;refseq.name_3=NM_006840;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L558L;refseq.proteinCoordStr_2=p.L458L;refseq.proteinCoordStr_3=p.L557L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.spliceDist_3=45;refseq.start_1=59446564;refseq.start_2=59446564;refseq.start_3=59446564;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr19 59470366 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1777A>C;refseq.codingCoordStr_2=c.1780A>C;refseq.codonCoord_1=593;refseq.codonCoord_2=594;refseq.end_1=59470366;refseq.end_2=59470366;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2043;refseq.mrnaCoord_2=2046;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T593P;refseq.proteinCoordStr_2=p.T594P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.start_1=59470366;refseq.start_2=59470366;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr19 59470382 . C T 23 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00233671;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1761G>A;refseq.codingCoordStr_2=c.1764G>A;refseq.codonCoord_1=587;refseq.codonCoord_2=588;refseq.end_1=59470382;refseq.end_2=59470382;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2027;refseq.mrnaCoord_2=2030;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E587E;refseq.proteinCoordStr_2=p.E588E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=59470382;refseq.start_2=59470382;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 0/1 chr19 59470429 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.194226;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1714A>G;refseq.codingCoordStr_2=c.1717A>G;refseq.codonCoord_1=572;refseq.codonCoord_2=573;refseq.end_1=59470429;refseq.end_2=59470429;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1980;refseq.mrnaCoord_2=1983;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K572E;refseq.proteinCoordStr_2=p.K573E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=59470429;refseq.start_2=59470429;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 1/0 chr19 59474219 . C T 293.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.03;MQ0=0;OQ=7240.27;QD=42.09;RankSumP=1.00000;SB=-1087.41;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.965G>A;refseq.codingCoordStr_2=c.965G>A;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.end_1=59474219;refseq.end_2=59474219;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1231;refseq.mrnaCoord_2=1231;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R322H;refseq.proteinCoordStr_2=p.R322H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=59474219;refseq.start_2=59474219;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr19 59474516 . G C 11.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=53.76;MQ0=16;OQ=862.19;QD=23.95;RankSumP=1.00000;SB=-349.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.918C>G;refseq.codingCoordStr_2=c.918C>G;refseq.codonCoord_1=306;refseq.codonCoord_2=306;refseq.end_1=59474516;refseq.end_2=59474516;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1184;refseq.mrnaCoord_2=1184;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C306W;refseq.proteinCoordStr_2=p.C306W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.start_1=59474516;refseq.start_2=59474516;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=filterInsoap-gatk GT 1/1 chr19 59474522 . A G 20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=57.71;MQ0=15;OQ=840.00;QD=22.11;RankSumP=1.00000;SB=-332.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.912T>C;refseq.codingCoordStr_2=c.912T>C;refseq.codonCoord_1=304;refseq.codonCoord_2=304;refseq.end_1=59474522;refseq.end_2=59474522;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1178;refseq.mrnaCoord_2=1178;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S304S;refseq.proteinCoordStr_2=p.S304S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=59474522;refseq.start_2=59474522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 1/1 chr19 59474536 . G A 37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=65.32;MQ0=11;OQ=974.13;QD=24.98;RankSumP=1.00000;SB=-256.33;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.898C>T;refseq.codingCoordStr_2=c.898C>T;refseq.codonCoord_1=300;refseq.codonCoord_2=300;refseq.end_1=59474536;refseq.end_2=59474536;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1164;refseq.mrnaCoord_2=1164;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H300Y;refseq.proteinCoordStr_2=p.H300Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.start_1=59474536;refseq.start_2=59474536;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr19 59475187 . T A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=79.84;MQ0=49;OQ=9921.25;QD=28.67;RankSumP=1.00000;SB=-4845.09;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.483A>T;refseq.codingCoordStr_2=c.483A>T;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=59475187;refseq.end_2=59475187;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=749;refseq.mrnaCoord_2=749;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E161D;refseq.proteinCoordStr_2=p.E161D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=128;refseq.spliceDist_2=128;refseq.start_1=59475187;refseq.start_2=59475187;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr19 59475505 . C T 74.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DP=224;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=98.21;MQ0=0;OQ=7709.35;QD=34.42;RankSumP=1.00000;SB=-3548.65;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.308G>A;refseq.codingCoordStr_2=c.308G>A;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.end_1=59475505;refseq.end_2=59475505;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=574;refseq.mrnaCoord_2=574;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R103H;refseq.proteinCoordStr_2=p.R103H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=59475505;refseq.start_2=59475505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr19 59475735 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=3;HaplotypeScore=2.08;MQ=98.87;MQ0=0;OQ=4798.01;QD=39.01;RankSumP=1.00000;SB=-1313.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.78T>C;refseq.codingCoordStr_2=c.78T>C;refseq.codonCoord_1=26;refseq.codonCoord_2=26;refseq.end_1=59475735;refseq.end_2=59475735;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=344;refseq.mrnaCoord_2=344;refseq.name2_1=LILRB2;refseq.name2_2=LILRB2;refseq.name_1=NM_001080978;refseq.name_2=NM_005874;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I26I;refseq.proteinCoordStr_2=p.I26I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=59475735;refseq.start_2=59475735;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chr19 59494505 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=120;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=91.45;MQ0=0;OQ=1966.79;QD=16.39;RankSumP=0.458320;SB=-588.64;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.556G>A;refseq.codingCoordStr_2=c.748G>A;refseq.codonCoord_1=186;refseq.codonCoord_2=250;refseq.end_1=59494505;refseq.end_2=59494505;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=840;refseq.name2_1=LILRA3;refseq.name2_2=LILRA3;refseq.name_1=NM_001172654;refseq.name_2=NM_006865;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A186T;refseq.proteinCoordStr_2=p.A250T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.start_1=59494505;refseq.start_2=59494505;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr19 59495316 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=14.12;MQ=86.69;MQ0=10;OQ=2195.17;QD=9.76;RankSumP=0.161662;SB=-200.70;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.320T>G;refseq.codingCoordStr_2=c.320T>G;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.end_1=59495316;refseq.end_2=59495316;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=412;refseq.name2_1=LILRA3;refseq.name2_2=LILRA3;refseq.name_1=NM_001172654;refseq.name_2=NM_006865;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L107R;refseq.proteinCoordStr_2=p.L107R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.start_1=59495316;refseq.start_2=59495316;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr19 59495979 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=22.53;MQ=92.40;MQ0=4;OQ=7127.62;QD=15.36;RankSumP=0.000140660;SB=-2395.37;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.7C>T;refseq.codingCoordStr_2=c.7C>T;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=59495979;refseq.end_2=59495979;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=55;refseq.mrnaCoord_2=99;refseq.name2_1=LILRA3;refseq.name2_2=LILRA3;refseq.name_1=NM_001172654;refseq.name_2=NM_006865;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P3S;refseq.proteinCoordStr_2=p.P3S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=59495979;refseq.start_2=59495979;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=filterInsoap-gatk GT 1/0 chr19 59539933 . C T 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=293;Dels=0.00;HRun=0;HaplotypeScore=6.58;MQ=75.95;MQ0=17;OQ=952.80;QD=3.25;SB=-291.80;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1246G>A;refseq.codonCoord=416;refseq.end=59539933;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_012276;refseq.name2=LILRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V416M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=59539933;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:245,47:256:-175.66,-77.09,-828.04:99 chr19 59539937 . C T 0.10 PASS AC=1;AF=0.50;AN=2;DP=305;Dels=0.00;HRun=1;HaplotypeScore=9.57;MQ=75.18;MQ0=17;OQ=950.11;QD=3.12;SB=-250.04;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1242G>A;refseq.codonCoord=414;refseq.end=59539937;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1299;refseq.name=NM_012276;refseq.name2=LILRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E414E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-14;refseq.start=59539937;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=gatk GT:AD:DP:GL:GQ 0/1:255,49:265:-181.77,-83.47,-907.21:99 chr19 59539969 rs1132604 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=465;Dels=0.00;HRun=4;HaplotypeScore=24.80;MQ=66.83;MQ0=21;OQ=1786.38;QD=3.84;SB=-495.79;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1210T>C;refseq.codonCoord=404;refseq.end=59539969;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1267;refseq.name=NM_012276;refseq.name2=LILRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y404H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-46;refseq.start=59539969;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:381,83:406:-304.25,-122.33,-1342.59:99 chr19 59541275 . C T 324.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.36;MQ0=0;OQ=5568.48;QD=38.14;RankSumP=1.00000;SB=-2616.25;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.399G>A;refseq.codonCoord=133;refseq.end=59541275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_012276;refseq.name2=LILRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V133V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=44;refseq.start=59541275;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr19 59541293 . T G 337.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=4.41;MQ=98.31;MQ0=0;OQ=5270.11;QD=39.04;RankSumP=1.00000;SB=-2211.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.381A>C;refseq.codonCoord=127;refseq.end=59541293;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=438;refseq.name=NM_012276;refseq.name2=LILRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A127A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=26;refseq.start=59541293;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 59559384 . C T 310.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=11.99;MQ=98.73;MQ0=0;OQ=7917.95;QD=21.75;RankSumP=0.491529;SB=-2408.38;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.708G>A;refseq.codingCoordStr_2=c.657G>A;refseq.codonCoord_1=236;refseq.codonCoord_2=219;refseq.end_1=59559384;refseq.end_2=59559384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1018;refseq.mrnaCoord_2=967;refseq.name2_1=LAIR1;refseq.name2_2=LAIR1;refseq.name_1=NM_002287;refseq.name_2=NM_021706;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T236T;refseq.proteinCoordStr_2=p.T219T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=59559384;refseq.start_2=59559384;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr19 59563476 rs35781676 G C 0.72 PASS AC=1;AF=0.50;AN=2;DB;DP=104;Dels=0.00;HRun=2;HaplotypeScore=6.53;MQ=21.64;MQ0=29;OQ=711.15;QD=6.84;SB=-293.46;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.380C>G;refseq.codonCoord_2=127;refseq.end_1=59564324;refseq.end_2=59563476;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=690;refseq.name2_1=LAIR1;refseq.name2_2=LAIR1;refseq.name_1=NM_021706;refseq.name_2=NM_002287;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P127R;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=16;refseq.start_1=59560398;refseq.start_2=59563476;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=gatk GT:AD:DP:GL:GQ 0/1:63,41:68:-94.88,-20.49,-222.32:99 chr19 59625294 . C G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.598214;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.536C>G;refseq.codingCoordStr_2=c.536C>G;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.end_1=59625294;refseq.end_2=59625294;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=628;refseq.mrnaCoord_2=628;refseq.name2_1=TTYH1;refseq.name2_2=TTYH1;refseq.name_1=NM_001005367;refseq.name_2=NM_020659;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A179G;refseq.proteinCoordStr_2=p.A179G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-103;refseq.spliceDist_2=-103;refseq.start_1=59625294;refseq.start_2=59625294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr19 59736854 . G A 233.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.85;MQ0=0;OQ=3050.79;QD=17.04;RankSumP=0.328291;SB=-1483.55;SecondBestBaseQ=33;refseq.chr=chr19;refseq.end=59736854;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=268;refseq.name=NR_026716;refseq.name2=KIR3DX1;refseq.positionType=non_coding_exon;refseq.spliceDist=92;refseq.start=59736854;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr19 59740082 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=269;Dels=0.00;HRun=4;HaplotypeScore=5.48;MQ=98.53;MQ0=0;OQ=4785.84;QD=17.79;RankSumP=3.87865e-09;SB=-1151.24;SecondBestBaseQ=30;refseq.chr=chr19;refseq.end=59740082;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=943;refseq.name=NR_026716;refseq.name2=KIR3DX1;refseq.positionType=non_coding_exon;refseq.spliceDist=-112;refseq.start=59740082;refseq.transcriptStrand=+;set=filterInsoap-gatk GT 0/1 chr19 59777808 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.299A>C;refseq.codingCoordStr_2=c.299A>C;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.end_1=59777808;refseq.end_2=59777808;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=388;refseq.mrnaCoord_2=388;refseq.name2_1=LILRA2;refseq.name2_2=LILRA2;refseq.name_1=NM_001130917;refseq.name_2=NM_006866;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y100S;refseq.proteinCoordStr_2=p.Y100S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=59777808;refseq.start_2=59777808;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr19 59778587 . C T 78.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=402;Dels=0.00;HRun=0;HaplotypeScore=9.10;MQ=48.92;MQ0=72;OQ=10019.26;QD=24.92;RankSumP=1.00000;SB=-4961.33;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.708C>T;refseq.codingCoordStr_2=c.708C>T;refseq.codonCoord_1=236;refseq.codonCoord_2=236;refseq.end_1=59778587;refseq.end_2=59778587;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=797;refseq.mrnaCoord_2=797;refseq.name2_1=LILRA2;refseq.name2_2=LILRA2;refseq.name_1=NM_001130917;refseq.name_2=NM_006866;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P236P;refseq.proteinCoordStr_2=p.P236P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=59778587;refseq.start_2=59778587;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/1 chr19 59798051 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.343364;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.180G>A;refseq.codonCoord=60;refseq.end=59798051;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_006863;refseq.name2=LILRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L60L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=110;refseq.start=59798051;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap GT 1/0 chr19 59798100 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.497026;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.229A>C;refseq.codonCoord=77;refseq.end=59798100;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_006863;refseq.name2=LILRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I77L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-130;refseq.start=59798100;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap GT 0/1 chr19 59798173 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=1.47968e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.302G>T;refseq.codonCoord=101;refseq.end=59798173;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=484;refseq.name=NM_006863;refseq.name2=LILRA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G101V;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-57;refseq.start=59798173;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 0/1 chr19 59834551 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=254;Dels=0.00;HRun=4;HaplotypeScore=5.47;MQ=42.51;MQ0=51;OQ=1391.56;QD=5.48;RankSumP=0.00245504;SB=-499.26;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.52A>C;refseq.codingCoordStr_2=c.52A>C;refseq.codingCoordStr_3=c.52A>C;refseq.codingCoordStr_4=c.52A>C;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.codonCoord_4=18;refseq.end_1=59834551;refseq.end_2=59834551;refseq.end_3=59834551;refseq.end_4=59834551;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=217;refseq.mrnaCoord_2=277;refseq.mrnaCoord_3=277;refseq.mrnaCoord_4=392;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R18R;refseq.proteinCoordStr_2=p.R18R;refseq.proteinCoordStr_3=p.R18R;refseq.proteinCoordStr_4=p.R18R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.start_1=59834551;refseq.start_2=59834551;refseq.start_3=59834551;refseq.start_4=59834551;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=FilteredInAll GT 0/1 chr19 59834895 . T C 108.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=344;Dels=0.00;HRun=1;HaplotypeScore=9.86;MQ=79.56;MQ0=58;OQ=4539.40;QD=13.20;RankSumP=0.00240953;SB=-1422.57;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.203T>C;refseq.codingCoordStr_2=c.203T>C;refseq.codingCoordStr_3=c.203T>C;refseq.codingCoordStr_4=c.203T>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.codonCoord_4=68;refseq.end_1=59834895;refseq.end_2=59834895;refseq.end_3=59834895;refseq.end_4=59834895;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=368;refseq.mrnaCoord_2=428;refseq.mrnaCoord_3=428;refseq.mrnaCoord_4=543;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L68P;refseq.proteinCoordStr_2=p.L68P;refseq.proteinCoordStr_3=p.L68P;refseq.proteinCoordStr_4=p.L68P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=133;refseq.spliceDist_2=133;refseq.spliceDist_3=133;refseq.spliceDist_4=133;refseq.start_1=59834895;refseq.start_2=59834895;refseq.start_3=59834895;refseq.start_4=59834895;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=filterInsoap-gatk GT 1/0 chr19 59834949 . C T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.277333;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.257C>T;refseq.codingCoordStr_2=c.257C>T;refseq.codingCoordStr_3=c.257C>T;refseq.codingCoordStr_4=c.257C>T;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.codonCoord_3=86;refseq.codonCoord_4=86;refseq.end_1=59834949;refseq.end_2=59834949;refseq.end_3=59834949;refseq.end_4=59834949;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=422;refseq.mrnaCoord_2=482;refseq.mrnaCoord_3=482;refseq.mrnaCoord_4=597;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P86L;refseq.proteinCoordStr_2=p.P86L;refseq.proteinCoordStr_3=p.P86L;refseq.proteinCoordStr_4=p.P86L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.spliceDist_4=-102;refseq.start_1=59834949;refseq.start_2=59834949;refseq.start_3=59834949;refseq.start_4=59834949;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;refseq.variantCodon_3=CTA;refseq.variantCodon_4=CTA;set=soap GT 0/1 chr19 59834968 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=86.48;MQ0=39;OQ=5102.37;QD=13.98;RankSumP=0.0597959;SB=-1838.38;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.276T>C;refseq.codingCoordStr_2=c.276T>C;refseq.codingCoordStr_3=c.276T>C;refseq.codingCoordStr_4=c.276T>C;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.codonCoord_3=92;refseq.codonCoord_4=92;refseq.end_1=59834968;refseq.end_2=59834968;refseq.end_3=59834968;refseq.end_4=59834968;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=441;refseq.mrnaCoord_2=501;refseq.mrnaCoord_3=501;refseq.mrnaCoord_4=616;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H92H;refseq.proteinCoordStr_2=p.H92H;refseq.proteinCoordStr_3=p.H92H;refseq.proteinCoordStr_4=p.H92H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.referenceCodon_4=CAT;refseq.spliceDist_1=-83;refseq.spliceDist_2=-83;refseq.spliceDist_3=-83;refseq.spliceDist_4=-83;refseq.start_1=59834968;refseq.start_2=59834968;refseq.start_3=59834968;refseq.start_4=59834968;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;set=Intersection GT 1/0 chr19 59834969 . G A 183.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=359;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=86.75;MQ0=37;OQ=5108.40;QD=14.23;RankSumP=0.368436;SB=-2048.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.277G>A;refseq.codingCoordStr_2=c.277G>A;refseq.codingCoordStr_3=c.277G>A;refseq.codingCoordStr_4=c.277G>A;refseq.codonCoord_1=93;refseq.codonCoord_2=93;refseq.codonCoord_3=93;refseq.codonCoord_4=93;refseq.end_1=59834969;refseq.end_2=59834969;refseq.end_3=59834969;refseq.end_4=59834969;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=442;refseq.mrnaCoord_2=502;refseq.mrnaCoord_3=502;refseq.mrnaCoord_4=617;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A93T;refseq.proteinCoordStr_2=p.A93T;refseq.proteinCoordStr_3=p.A93T;refseq.proteinCoordStr_4=p.A93T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.spliceDist_3=-82;refseq.spliceDist_4=-82;refseq.start_1=59834969;refseq.start_2=59834969;refseq.start_3=59834969;refseq.start_4=59834969;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr19 59835264 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=2;HaplotypeScore=4.42;MQ=93.36;MQ0=8;OQ=5094.38;QD=17.39;RankSumP=0.0254549;SB=-1796.21;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.425T>C;refseq.codingCoordStr_2=c.425T>C;refseq.codingCoordStr_3=c.425T>C;refseq.codingCoordStr_4=c.425T>C;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.codonCoord_3=142;refseq.codonCoord_4=142;refseq.end_1=59835264;refseq.end_2=59835264;refseq.end_3=59835264;refseq.end_4=59835264;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=590;refseq.mrnaCoord_2=650;refseq.mrnaCoord_3=650;refseq.mrnaCoord_4=765;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I142T;refseq.proteinCoordStr_2=p.I142T;refseq.proteinCoordStr_3=p.I142T;refseq.proteinCoordStr_4=p.I142T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.spliceDist_3=67;refseq.spliceDist_4=67;refseq.start_1=59835264;refseq.start_2=59835264;refseq.start_3=59835264;refseq.start_4=59835264;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/0 chr19 59835303 . G T 112.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=385;Dels=0.00;HRun=1;HaplotypeScore=5.93;MQ=74.11;MQ0=47;OQ=5019.16;QD=13.04;RankSumP=0.407453;SB=-1863.09;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.464G>T;refseq.codingCoordStr_2=c.464G>T;refseq.codingCoordStr_3=c.464G>T;refseq.codingCoordStr_4=c.464G>T;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.codonCoord_3=155;refseq.codonCoord_4=155;refseq.end_1=59835303;refseq.end_2=59835303;refseq.end_3=59835303;refseq.end_4=59835303;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=629;refseq.mrnaCoord_2=689;refseq.mrnaCoord_3=689;refseq.mrnaCoord_4=804;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S155I;refseq.proteinCoordStr_2=p.S155I;refseq.proteinCoordStr_3=p.S155I;refseq.proteinCoordStr_4=p.S155I;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.spliceDist_3=106;refseq.spliceDist_4=106;refseq.start_1=59835303;refseq.start_2=59835303;refseq.start_3=59835303;refseq.start_4=59835303;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr19 59835953 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=179;Dels=0.00;HRun=1;HaplotypeScore=8.72;MQ=49.72;MQ0=73;QD=0.08;RankSumP=0.284175;SB=55.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.888A>G;refseq.codingCoordStr_2=c.888A>G;refseq.codingCoordStr_3=c.888A>G;refseq.codingCoordStr_4=c.888A>G;refseq.codonCoord_1=296;refseq.codonCoord_2=296;refseq.codonCoord_3=296;refseq.codonCoord_4=296;refseq.end_1=59835953;refseq.end_2=59835953;refseq.end_3=59835953;refseq.end_4=59835953;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1053;refseq.mrnaCoord_2=1113;refseq.mrnaCoord_3=1113;refseq.mrnaCoord_4=1228;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R296R;refseq.proteinCoordStr_2=p.R296R;refseq.proteinCoordStr_3=p.R296R;refseq.proteinCoordStr_4=p.R296R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=-71;refseq.spliceDist_2=-71;refseq.spliceDist_3=-71;refseq.spliceDist_4=-71;refseq.start_1=59835953;refseq.start_2=59835953;refseq.start_3=59835953;refseq.start_4=59835953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=soap-filterIngatk GT 0/1 chr19 59835959 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=180;Dels=0.00;HRun=0;HaplotypeScore=54.50;MQ=48.45;MQ0=73;QD=0.13;RankSumP=0.447147;SB=47.11;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.894C>T;refseq.codingCoordStr_2=c.894C>T;refseq.codingCoordStr_3=c.894C>T;refseq.codingCoordStr_4=c.894C>T;refseq.codonCoord_1=298;refseq.codonCoord_2=298;refseq.codonCoord_3=298;refseq.codonCoord_4=298;refseq.end_1=59835959;refseq.end_2=59835959;refseq.end_3=59835959;refseq.end_4=59835959;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1059;refseq.mrnaCoord_2=1119;refseq.mrnaCoord_3=1119;refseq.mrnaCoord_4=1234;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y298Y;refseq.proteinCoordStr_2=p.Y298Y;refseq.proteinCoordStr_3=p.Y298Y;refseq.proteinCoordStr_4=p.Y298Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.spliceDist_4=-65;refseq.start_1=59835959;refseq.start_2=59835959;refseq.start_3=59835959;refseq.start_4=59835959;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=soap-filterIngatk GT 0/1 chr19 59835998 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=7.65;MQ=38.22;MQ0=93;OQ=686.21;QD=3.92;RankSumP=0.0839506;SB=-267.66;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.933C>T;refseq.codingCoordStr_2=c.933C>T;refseq.codingCoordStr_3=c.933C>T;refseq.codingCoordStr_4=c.933C>T;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.codonCoord_3=311;refseq.codonCoord_4=311;refseq.end_1=59835998;refseq.end_2=59835998;refseq.end_3=59835998;refseq.end_4=59835998;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1098;refseq.mrnaCoord_2=1158;refseq.mrnaCoord_3=1158;refseq.mrnaCoord_4=1273;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S311S;refseq.proteinCoordStr_2=p.S311S;refseq.proteinCoordStr_3=p.S311S;refseq.proteinCoordStr_4=p.S311S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.spliceDist_4=-26;refseq.start_1=59835998;refseq.start_2=59835998;refseq.start_3=59835998;refseq.start_4=59835998;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr19 59836020 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=140;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=35.98;MQ0=88;OQ=213.35;QD=1.52;RankSumP=0.540425;SB=-85.98;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.955G>A;refseq.codingCoordStr_2=c.955G>A;refseq.codingCoordStr_3=c.955G>A;refseq.codingCoordStr_4=c.955G>A;refseq.codonCoord_1=319;refseq.codonCoord_2=319;refseq.codonCoord_3=319;refseq.codonCoord_4=319;refseq.end_1=59836020;refseq.end_2=59836020;refseq.end_3=59836020;refseq.end_4=59836020;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1120;refseq.mrnaCoord_2=1180;refseq.mrnaCoord_3=1180;refseq.mrnaCoord_4=1295;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A319T;refseq.proteinCoordStr_2=p.A319T;refseq.proteinCoordStr_3=p.A319T;refseq.proteinCoordStr_4=p.A319T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceDist_4=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.spliceInfo_4=splice-donor_-4;refseq.start_1=59836020;refseq.start_2=59836020;refseq.start_3=59836020;refseq.start_4=59836020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=soap-filterIngatk GT 1/0 chr19 59839799 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=2;HaplotypeScore=15.59;MQ=22.25;MQ0=291;OQ=321.26;QD=0.74;RankSumP=0.259121;SB=-109.77;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1696G>C;refseq.codingCoordStr_2=c.1693G>C;refseq.codingCoordStr_3=c.1693G>C;refseq.codingCoordStr_4=c.1690G>C;refseq.codonCoord_1=566;refseq.codonCoord_2=565;refseq.codonCoord_3=565;refseq.codonCoord_4=564;refseq.end_1=59839799;refseq.end_2=59839799;refseq.end_3=59839799;refseq.end_4=59839799;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1861;refseq.mrnaCoord_2=1918;refseq.mrnaCoord_3=1918;refseq.mrnaCoord_4=2030;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E566Q;refseq.proteinCoordStr_2=p.E565Q;refseq.proteinCoordStr_3=p.E565Q;refseq.proteinCoordStr_4=p.E564Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=43;refseq.spliceDist_2=40;refseq.spliceDist_3=43;refseq.spliceDist_4=40;refseq.start_1=59839799;refseq.start_2=59839799;refseq.start_3=59839799;refseq.start_4=59839799;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 0/1 chr19 59839800 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=430;Dels=0.00;HRun=0;HaplotypeScore=15.59;MQ=21.80;MQ0=289;OQ=206.75;QD=0.48;RankSumP=0.174870;SB=-34.43;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1697A>C;refseq.codingCoordStr_2=c.1694A>C;refseq.codingCoordStr_3=c.1694A>C;refseq.codingCoordStr_4=c.1691A>C;refseq.codonCoord_1=566;refseq.codonCoord_2=565;refseq.codonCoord_3=565;refseq.codonCoord_4=564;refseq.end_1=59839800;refseq.end_2=59839800;refseq.end_3=59839800;refseq.end_4=59839800;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1862;refseq.mrnaCoord_2=1919;refseq.mrnaCoord_3=1919;refseq.mrnaCoord_4=2031;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E566A;refseq.proteinCoordStr_2=p.E565A;refseq.proteinCoordStr_3=p.E565A;refseq.proteinCoordStr_4=p.E564A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=44;refseq.spliceDist_2=41;refseq.spliceDist_3=44;refseq.spliceDist_4=41;refseq.start_1=59839800;refseq.start_2=59839800;refseq.start_3=59839800;refseq.start_4=59839800;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 0/1 chr19 59839888 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.403097;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1785G>A;refseq.codingCoordStr_2=c.1782G>A;refseq.codingCoordStr_3=c.1782G>A;refseq.codingCoordStr_4=c.1779G>A;refseq.codonCoord_1=595;refseq.codonCoord_2=594;refseq.codonCoord_3=594;refseq.codonCoord_4=593;refseq.end_1=59839888;refseq.end_2=59839888;refseq.end_3=59839888;refseq.end_4=59839888;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1950;refseq.mrnaCoord_2=2007;refseq.mrnaCoord_3=2007;refseq.mrnaCoord_4=2119;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A595A;refseq.proteinCoordStr_2=p.A594A;refseq.proteinCoordStr_3=p.A594A;refseq.proteinCoordStr_4=p.A593A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.spliceDist_4=-28;refseq.start_1=59839888;refseq.start_2=59839888;refseq.start_3=59839888;refseq.start_4=59839888;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=soap GT 1/0 chr19 59839900 . G A 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.573131;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1797G>A;refseq.codingCoordStr_2=c.1794G>A;refseq.codingCoordStr_3=c.1794G>A;refseq.codingCoordStr_4=c.1791G>A;refseq.codonCoord_1=599;refseq.codonCoord_2=598;refseq.codonCoord_3=598;refseq.codonCoord_4=597;refseq.end_1=59839900;refseq.end_2=59839900;refseq.end_3=59839900;refseq.end_4=59839900;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1962;refseq.mrnaCoord_2=2019;refseq.mrnaCoord_3=2019;refseq.mrnaCoord_4=2131;refseq.name2_1=LILRB1;refseq.name2_2=LILRB1;refseq.name2_3=LILRB1;refseq.name2_4=LILRB1;refseq.name_1=NM_001081637;refseq.name_2=NM_001081638;refseq.name_3=NM_001081639;refseq.name_4=NM_006669;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R599R;refseq.proteinCoordStr_2=p.R598R;refseq.proteinCoordStr_3=p.R598R;refseq.proteinCoordStr_4=p.R597R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.spliceDist_4=-16;refseq.start_1=59839900;refseq.start_2=59839900;refseq.start_3=59839900;refseq.start_4=59839900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=soap GT 1/0 chr19 59866310 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.22;MQ0=0;OQ=734.06;QD=12.66;RankSumP=0.0322659;SB=-355.56;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.13T>C;refseq.codingCoordStr_2=c.13T>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=59866310;refseq.end_2=59866310;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=375;refseq.mrnaCoord_2=375;refseq.name2_1=LILRB4;refseq.name2_2=LILRB4;refseq.name_1=NM_001081438;refseq.name_2=NM_006847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F5L;refseq.proteinCoordStr_2=p.F5L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=59866310;refseq.start_2=59866310;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr19 59866821 . G T 215.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=90.38;MQ0=1;OQ=3039.15;QD=14.14;RankSumP=0.456713;SB=-1410.55;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.54G>T;refseq.codingCoordStr_2=c.54G>T;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=59866821;refseq.end_2=59866821;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=416;refseq.mrnaCoord_2=416;refseq.name2_1=LILRB4;refseq.name2_2=LILRB4;refseq.name_1=NM_001081438;refseq.name_2=NM_006847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R18S;refseq.proteinCoordStr_2=p.R18S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=59866821;refseq.start_2=59866821;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr19 59868074 . A G 83.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=5716.52;QD=39.98;RankSumP=1.00000;SB=-2166.55;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.668A>G;refseq.codingCoordStr_2=c.668A>G;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.end_1=59868074;refseq.end_2=59868074;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1030;refseq.mrnaCoord_2=1030;refseq.name2_1=LILRB4;refseq.name2_2=LILRB4;refseq.name_1=NM_001081438;refseq.name_2=NM_006847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D223G;refseq.proteinCoordStr_2=p.D223G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=59868074;refseq.start_2=59868074;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr19 59869974 . A G 229.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=4.48;MQ=97.88;MQ0=0;OQ=2875.98;QD=15.22;RankSumP=0.380346;SB=-1210.01;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1003A>G;refseq.codingCoordStr_2=c.1003A>G;refseq.codonCoord_1=335;refseq.codonCoord_2=335;refseq.end_1=59869974;refseq.end_2=59869974;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1365;refseq.mrnaCoord_2=1365;refseq.name2_1=LILRB4;refseq.name2_2=LILRB4;refseq.name_1=NM_001081438;refseq.name_2=NM_006847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N335D;refseq.proteinCoordStr_2=p.N335D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=59869974;refseq.start_2=59869974;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 0/1 chr19 59871176 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=17.24;MQ=64.04;MQ0=58;OQ=1772.97;QD=7.36;RankSumP=0.250680;SB=-642.34;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1238A>G;refseq.codingCoordStr_2=c.1241A>G;refseq.codonCoord_1=413;refseq.codonCoord_2=414;refseq.end_1=59871176;refseq.end_2=59871176;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1600;refseq.mrnaCoord_2=1603;refseq.name2_1=LILRB4;refseq.name2_2=LILRB4;refseq.name_1=NM_001081438;refseq.name_2=NM_006847;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q413R;refseq.proteinCoordStr_2=p.Q414R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=59871176;refseq.start_2=59871176;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr19 59929428 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.407356;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.168C>T;refseq.codonCoord_2=56;refseq.end_1=59959367;refseq.end_2=59929428;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=186;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR3DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_153443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N56N;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_2=98;refseq.start_1=59927858;refseq.start_2=59929428;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=soap GT 0/1 chr19 59930941 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=10.15;MQ=2.12;MQ0=444;QD=0.10;RankSumP=0.474788;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.408G>A;refseq.codonCoord_2=136;refseq.end_1=59959367;refseq.end_2=59930941;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=426;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR3DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_153443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S136S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=53;refseq.start_1=59927858;refseq.start_2=59930941;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=soap-filterIngatk GT 1/0 chr19 59932892 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0202923;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.777A>G;refseq.codonCoord_2=259;refseq.end_1=59959367;refseq.end_2=59932892;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=795;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR3DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_153443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A259A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=122;refseq.start_1=59927858;refseq.start_2=59932892;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=soap GT 0/1 chr19 59932919 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.147050;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.804G>A;refseq.codonCoord_2=268;refseq.end_1=59959367;refseq.end_2=59932919;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=822;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR3DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_153443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A268A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-146;refseq.start_1=59927858;refseq.start_2=59932919;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=soap GT 1/0 chr19 59933021 . C T 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00935417;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.906C>T;refseq.codonCoord_2=302;refseq.end_1=59959367;refseq.end_2=59933021;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=924;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR3DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_153443;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H302H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-44;refseq.start_1=59927858;refseq.start_2=59933021;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=FilteredInAll GT 0/1 chr19 59942774 . T G 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=1025;Dels=0.00;HRun=1;HaplotypeScore=13.91;MQ=15.67;MQ0=885;OQ=245.61;QD=0.24;RankSumP=0.371695;SB=-123.74;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.44T>G;refseq.codingCoordStr_3=c.44T>G;refseq.codonCoord_2=15;refseq.codonCoord_3=15;refseq.end_1=59959367;refseq.end_2=59942774;refseq.end_3=59942774;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=81;refseq.mrnaCoord_3=81;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL3;refseq.name2_3=KIR2DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_014511;refseq.name_3=NM_015868;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.L15W;refseq.proteinCoordStr_3=p.L15W;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=59927858;refseq.start_2=59942774;refseq.start_3=59942774;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=Intersection GT 1/0 chr19 59947138 . C T 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.693906;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_3=c.454C>T;refseq.codonCoord_3=152;refseq.end_1=59959367;refseq.end_2=59947308;refseq.end_3=59947138;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=491;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL3;refseq.name2_3=KIR2DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_014511;refseq.name_3=NM_015868;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R152W;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGG;refseq.spliceDist_3=84;refseq.start_1=59927858;refseq.start_2=59945518;refseq.start_3=59947138;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Trp;refseq.variantCodon_3=TGG;set=soap GT 0/1 chr19 59947169 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.633450;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_3=c.485G>C;refseq.codonCoord_3=162;refseq.end_1=59959367;refseq.end_2=59947308;refseq.end_3=59947169;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=522;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL3;refseq.name2_3=KIR2DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_014511;refseq.name_3=NM_015868;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R162T;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=AGG;refseq.spliceDist_3=115;refseq.start_1=59927858;refseq.start_2=59945518;refseq.start_3=59947169;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACG;set=soap GT 0/1 chr19 59947260 . C A 35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.238656;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_3=c.576C>A;refseq.codonCoord_3=192;refseq.end_1=59959367;refseq.end_2=59947308;refseq.end_3=59947260;refseq.frame_3=2;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=613;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL3;refseq.name2_3=KIR2DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_014511;refseq.name_3=NM_015868;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H192Q;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAC;refseq.spliceDist_3=-89;refseq.start_1=59927858;refseq.start_2=59945518;refseq.start_3=59947260;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Gln;refseq.variantCodon_3=CAA;set=soap GT 1/0 chr19 59947346 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.440841;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.368C>T;refseq.codingCoordStr_3=c.662C>T;refseq.codonCoord_2=123;refseq.codonCoord_3=221;refseq.end_1=59959367;refseq.end_2=59947346;refseq.end_3=59947346;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=405;refseq.mrnaCoord_3=699;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL3;refseq.name2_3=KIR2DL3;refseq.name_1=NM_001015070;refseq.name_2=NM_014511;refseq.name_3=NM_015868;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T123I;refseq.proteinCoordStr_3=p.T221I;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.start_1=59927858;refseq.start_2=59947346;refseq.start_3=59947346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=soap GT 0/1 chr19 59976670 . G A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00259008;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.144G>A;refseq.codonCoord_2=48;refseq.end_1=59989716;refseq.end_2=59976670;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=182;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q48Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=74;refseq.start_1=59959424;refseq.start_2=59976670;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=FilteredInAll GT 1/0 chr19 59978634 rs28465191 C A 0.58 PASS AC=1;AF=0.50;AN=2;DB;DP=529;Dels=0.00;HRun=1;HaplotypeScore=4.90;MQ=48.29;MQ0=72;OQ=2814.21;QD=5.32;SB=-358.93;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.576C>A;refseq.codonCoord_2=192;refseq.end_1=59989716;refseq.end_2=59978634;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=614;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H192Q;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=-89;refseq.start_1=59959424;refseq.start_2=59978634;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=gatk GT:AD:DP:GL:GQ 0/1:356,173:409:-407.86,-123.16,-1165.72:99 chr19 59978640 . G A 3.02 PASS AC=1;AF=0.50;AN=2;DP=593;Dels=0.00;HRun=1;HaplotypeScore=7.06;MQ=46.99;MQ0=77;OQ=6338.37;QD=10.69;SB=-962.39;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.582G>A;refseq.codonCoord_2=194;refseq.end_1=59989716;refseq.end_2=59978640;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=620;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G194G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=-83;refseq.start_1=59959424;refseq.start_2=59978640;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=gatk GT:AD:DP:GL:GQ 0/1:374,219:472:-632.84,-142.14,-1342.95:99 chr19 59978676 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1005;Dels=0.00;HRun=2;HaplotypeScore=22.70;MQ=39.68;MQ0=325;OQ=10970.50;QD=10.92;RankSumP=0.201934;SB=-3316.15;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.618A>C;refseq.codonCoord_2=206;refseq.end_1=59989716;refseq.end_2=59978676;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=656;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P206P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCA;refseq.spliceDist_2=-47;refseq.start_1=59959424;refseq.start_2=59978676;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 0/1 chr19 59986266 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.335136;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.796C>T;refseq.codonCoord_2=266;refseq.end_1=59989716;refseq.end_2=59986266;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=834;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R266C;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-22;refseq.start_1=59959424;refseq.start_2=59986266;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap GT 0/1 chr19 59987027 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.280653;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.997A>G;refseq.codonCoord_2=333;refseq.end_1=59989716;refseq.end_2=59987027;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1035;refseq.name2_1=KIR3DP1;refseq.name2_2=KIR2DL1;refseq.name_1=NM_001015070;refseq.name_2=NM_014218;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T333A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=127;refseq.start_1=59959424;refseq.start_2=59987027;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=soap GT 0/1 chr19 60055531 . C G 217.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=12.42;MQ=18.66;MQ0=136;OQ=7637.23;QD=22.33;RankSumP=1.00000;SB=-3508.53;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.337C>G;refseq.codonCoord=113;refseq.end=60055531;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_006737;refseq.name2=KIR3DL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L113V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-19;refseq.start=60055531;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr19 60059126 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=588;Dels=0.00;HRun=0;HaplotypeScore=8.26;MQ=5.69;MQ0=586;QD=0.06;RankSumP=0.235298;SB=-10.00;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.896C>A;refseq.codonCoord=299;refseq.end=60059126;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_006737;refseq.name2=KIR3DL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A299D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-54;refseq.start=60059126;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 1/0 chr19 60069691 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.chr=chr19;refseq.codingCoordStr=c.1158+2;refseq.end=60069691;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_006737;refseq.name2=KIR3DL2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=60069691;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr19 60069820 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=1124;Dels=0.00;HRun=0;HaplotypeScore=20.51;MQ=92.54;MQ0=10;OQ=46656.86;QD=41.51;RankSumP=1.00000;SB=-21684.12;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1190C>T;refseq.codonCoord=397;refseq.end=60069820;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1223;refseq.name=NM_006737;refseq.name2=KIR3DL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T397M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=32;refseq.start=60069820;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 1/1 chr19 60133714 . T C 221.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=98.70;MQ0=0;OQ=2943.20;QD=14.43;RankSumP=0.0923998;SB=-786.33;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.2775A>G;refseq.codingCoordStr_2=c.2691A>G;refseq.codingCoordStr_3=c.2775A>G;refseq.codonCoord_1=925;refseq.codonCoord_2=897;refseq.codonCoord_3=925;refseq.end_1=60133714;refseq.end_2=60133714;refseq.end_3=60133714;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2851;refseq.mrnaCoord_2=2767;refseq.mrnaCoord_3=2851;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A925A;refseq.proteinCoordStr_2=p.A897A;refseq.proteinCoordStr_3=p.A925A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.spliceDist_3=-36;refseq.start_1=60133714;refseq.start_2=60133714;refseq.start_3=60133714;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr19 60133807 . A G 246.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=4.89;MQ=98.93;MQ0=0;OQ=4064.22;QD=20.02;RankSumP=0.0179471;SB=-1331.85;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.2682T>C;refseq.codingCoordStr_2=c.2598T>C;refseq.codingCoordStr_3=c.2682T>C;refseq.codonCoord_1=894;refseq.codonCoord_2=866;refseq.codonCoord_3=894;refseq.end_1=60133807;refseq.end_2=60133807;refseq.end_3=60133807;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2758;refseq.mrnaCoord_2=2674;refseq.mrnaCoord_3=2758;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y894Y;refseq.proteinCoordStr_2=p.Y866Y;refseq.proteinCoordStr_3=p.Y894Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=60133807;refseq.start_2=60133807;refseq.start_3=60133807;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chr19 60142274 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=268;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=97.53;MQ0=0;OQ=4902.64;QD=18.29;RankSumP=0.116492;SB=-1882.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1725G>T;refseq.codingCoordStr_2=c.1725G>T;refseq.codingCoordStr_3=c.1725G>T;refseq.codonCoord_1=575;refseq.codonCoord_2=575;refseq.codonCoord_3=575;refseq.end_1=60142274;refseq.end_2=60142274;refseq.end_3=60142274;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1801;refseq.mrnaCoord_2=1801;refseq.mrnaCoord_3=1801;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L575L;refseq.proteinCoordStr_2=p.L575L;refseq.proteinCoordStr_3=p.L575L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.spliceDist_1=-207;refseq.spliceDist_2=-207;refseq.spliceDist_3=-207;refseq.start_1=60142274;refseq.start_2=60142274;refseq.start_3=60142274;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/0 chr19 60142862 . C T 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=113;Dels=0.00;HRun=2;HaplotypeScore=8.03;MQ=28.56;MQ0=34;OQ=1014.49;QD=8.98;RankSumP=0.463636;SB=-436.19;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1137G>A;refseq.codingCoordStr_2=c.1137G>A;refseq.codingCoordStr_3=c.1137G>A;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.codonCoord_3=379;refseq.end_1=60142862;refseq.end_2=60142862;refseq.end_3=60142862;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1213;refseq.mrnaCoord_2=1213;refseq.mrnaCoord_3=1213;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K379K;refseq.proteinCoordStr_2=p.K379K;refseq.proteinCoordStr_3=p.K379K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.spliceDist_1=785;refseq.spliceDist_2=785;refseq.spliceDist_3=785;refseq.start_1=60142862;refseq.start_2=60142862;refseq.start_3=60142862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=Intersection GT 0/1 chr19 60142895 . A G 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.431818;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1104T>C;refseq.codingCoordStr_2=c.1104T>C;refseq.codingCoordStr_3=c.1104T>C;refseq.codonCoord_1=368;refseq.codonCoord_2=368;refseq.codonCoord_3=368;refseq.end_1=60142895;refseq.end_2=60142895;refseq.end_3=60142895;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1180;refseq.mrnaCoord_3=1180;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I368I;refseq.proteinCoordStr_2=p.I368I;refseq.proteinCoordStr_3=p.I368I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=752;refseq.spliceDist_2=752;refseq.spliceDist_3=752;refseq.start_1=60142895;refseq.start_2=60142895;refseq.start_3=60142895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=soap GT 0/1 chr19 60143044 . C T 107.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=86.46;MQ0=13;OQ=1689.24;QD=12.15;RankSumP=0.237783;SB=-790.24;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.955G>A;refseq.codingCoordStr_2=c.955G>A;refseq.codingCoordStr_3=c.955G>A;refseq.codonCoord_1=319;refseq.codonCoord_2=319;refseq.codonCoord_3=319;refseq.end_1=60143044;refseq.end_2=60143044;refseq.end_3=60143044;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1031;refseq.mrnaCoord_2=1031;refseq.mrnaCoord_3=1031;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V319I;refseq.proteinCoordStr_2=p.V319I;refseq.proteinCoordStr_3=p.V319I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=603;refseq.spliceDist_2=603;refseq.spliceDist_3=603;refseq.start_1=60143044;refseq.start_2=60143044;refseq.start_3=60143044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;set=Intersection GT 0/1 chr19 60143609 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=1739.34;QD=17.22;RankSumP=0.400841;SB=-275.20;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.390G>A;refseq.codingCoordStr_2=c.390G>A;refseq.codingCoordStr_3=c.390G>A;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.codonCoord_3=130;refseq.end_1=60143609;refseq.end_2=60143609;refseq.end_3=60143609;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=466;refseq.mrnaCoord_2=466;refseq.mrnaCoord_3=466;refseq.name2_1=NLRP7;refseq.name2_2=NLRP7;refseq.name2_3=NLRP7;refseq.name_1=NM_001127255;refseq.name_2=NM_139176;refseq.name_3=NM_206828;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q130Q;refseq.proteinCoordStr_2=p.Q130Q;refseq.proteinCoordStr_3=p.Q130Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=38;refseq.spliceDist_2=38;refseq.spliceDist_3=38;refseq.start_1=60143609;refseq.start_2=60143609;refseq.start_3=60143609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 0/1 chr19 60186693 . C G 368.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=6.08;MQ=97.93;MQ0=0;OQ=5045.28;QD=18.83;RankSumP=0.125474;SB=-1743.88;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1815C>G;refseq.codingCoordStr_2=c.1749C>G;refseq.codingCoordStr_3=c.1746C>G;refseq.codingCoordStr_4=c.1815C>G;refseq.codonCoord_1=605;refseq.codonCoord_2=583;refseq.codonCoord_3=582;refseq.codonCoord_4=605;refseq.end_1=60186693;refseq.end_2=60186693;refseq.end_3=60186693;refseq.end_4=60186693;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1926;refseq.mrnaCoord_2=1891;refseq.mrnaCoord_3=1888;refseq.mrnaCoord_4=1957;refseq.name2_1=NLRP2;refseq.name2_2=NLRP2;refseq.name2_3=NLRP2;refseq.name2_4=NLRP2;refseq.name_1=NM_001174081;refseq.name_2=NM_001174082;refseq.name_3=NM_001174083;refseq.name_4=NM_017852;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L605L;refseq.proteinCoordStr_2=p.L583L;refseq.proteinCoordStr_3=p.L582L;refseq.proteinCoordStr_4=p.L605L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=-216;refseq.spliceDist_2=-216;refseq.spliceDist_3=-216;refseq.spliceDist_4=-216;refseq.start_1=60186693;refseq.start_2=60186693;refseq.start_3=60186693;refseq.start_4=60186693;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/0 chr19 60203949 . C A 284.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=13.75;MQ=98.57;MQ0=0;OQ=4311.29;QD=20.63;RankSumP=0.315093;SB=-1684.87;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.3060C>A;refseq.codingCoordStr_2=c.2994C>A;refseq.codingCoordStr_3=c.2991C>A;refseq.codingCoordStr_4=c.3060C>A;refseq.codonCoord_1=1020;refseq.codonCoord_2=998;refseq.codonCoord_3=997;refseq.codonCoord_4=1020;refseq.end_1=60203949;refseq.end_2=60203949;refseq.end_3=60203949;refseq.end_4=60203949;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3171;refseq.mrnaCoord_2=3136;refseq.mrnaCoord_3=3133;refseq.mrnaCoord_4=3202;refseq.name2_1=NLRP2;refseq.name2_2=NLRP2;refseq.name2_3=NLRP2;refseq.name2_4=NLRP2;refseq.name_1=NM_001174081;refseq.name_2=NM_001174082;refseq.name_3=NM_001174083;refseq.name_4=NM_017852;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I1020I;refseq.proteinCoordStr_2=p.I998I;refseq.proteinCoordStr_3=p.I997I;refseq.proteinCoordStr_4=p.I1020I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceDist_4=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.spliceInfo_4=splice-acceptor_10;refseq.start_1=60203949;refseq.start_2=60203949;refseq.start_3=60203949;refseq.start_4=60203949;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/0 chr19 60217309 rs1671150 A G 11.45 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.45;SB=-10.00;refseq.changesAA_1=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1816T>C;refseq.codingCoordStr_2=c.*792T>C;refseq.codonCoord_1=606;refseq.end_1=60217309;refseq.end_2=60217309;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1844;refseq.mrnaCoord_2=1840;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.F606L;refseq.referenceAA_1=Phe;refseq.referenceCodon_1=TTT;refseq.spliceDist_1=-423;refseq.spliceDist_2=-423;refseq.start_1=60217309;refseq.start_2=60217309;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantCodon_1=CTT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.40,-0.30,-0.00:1.76 chr19 60217398 . C T 35.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=7.04;RankSumP=0.833333;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1727G>A;refseq.codingCoordStr_2=c.*703G>A;refseq.codonCoord_1=576;refseq.end_1=60217398;refseq.end_2=60217398;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1755;refseq.mrnaCoord_2=1751;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.R576K;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=AGG;refseq.spliceDist_1=-512;refseq.spliceDist_2=-512;refseq.start_1=60217398;refseq.start_2=60217398;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantCodon_1=AAG;set=soap-filterIngatk GT 0/1 chr19 60217408 . T C 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=69.15;QD=11.53;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1717A>G;refseq.codingCoordStr_2=c.*693A>G;refseq.codonCoord_1=573;refseq.end_1=60217408;refseq.end_2=60217408;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1745;refseq.mrnaCoord_2=1741;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.R573G;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=AGG;refseq.spliceDist_1=-522;refseq.spliceDist_2=-522;refseq.start_1=60217408;refseq.start_2=60217408;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantCodon_1=GGG;set=soap-filterIngatk GT 1/0 chr19 60217706 . G A 354.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=98.57;MQ0=0;OQ=3056.13;QD=19.47;RankSumP=0.0968846;SB=-1409.28;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1419C>T;refseq.codingCoordStr_2=c.*395C>T;refseq.codonCoord_1=473;refseq.end_1=60217706;refseq.end_2=60217706;refseq.frame_1=2;refseq.functionalClass_1=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=1447;refseq.mrnaCoord_2=1443;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.P473P;refseq.referenceAA_1=Pro;refseq.referenceCodon_1=CCC;refseq.spliceDist_1=640;refseq.spliceDist_2=640;refseq.start_1=60217706;refseq.start_2=60217706;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCT;set=Intersection GT 1/0 chr19 60218157 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=96.87;MQ0=0;OQ=1098.11;QD=24.96;RankSumP=0.727576;SB=-486.94;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.968A>C;refseq.codingCoordStr_2=c.964A>C;refseq.codonCoord_1=323;refseq.codonCoord_2=322;refseq.end_1=60218157;refseq.end_2=60218157;refseq.frame_1=1;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=996;refseq.mrnaCoord_2=992;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K323T;refseq.proteinCoordStr_2=p.N322H;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=189;refseq.spliceDist_2=189;refseq.start_1=60218157;refseq.start_2=60218157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=His;refseq.variantCodon_1=ACA;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr19 60218171 . A T 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=95.96;MQ0=0;OQ=675.25;QD=21.78;RankSumP=0.159799;SB=-341.41;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.954T>A;refseq.codingCoordStr_2=c.950T>A;refseq.codonCoord_1=318;refseq.codonCoord_2=317;refseq.end_1=60218171;refseq.end_2=60218171;refseq.frame_1=2;refseq.frame_2=1;refseq.functionalClass_1=silent;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=978;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A318A;refseq.proteinCoordStr_2=p.L317Q;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.start_1=60218171;refseq.start_2=60218171;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Gln;refseq.variantCodon_1=GCA;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr19 60218185 . G C 69.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=94.54;MQ0=0;OQ=627.82;QD=20.93;RankSumP=0.154845;SB=-127.74;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.940C>G;refseq.codingCoordStr_2=c.936C>G;refseq.codonCoord_1=314;refseq.codonCoord_2=312;refseq.end_1=60218185;refseq.end_2=60218185;refseq.frame_1=0;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=968;refseq.mrnaCoord_2=964;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P314A;refseq.proteinCoordStr_2=p.L312L;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=161;refseq.spliceDist_2=161;refseq.start_1=60218185;refseq.start_2=60218185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Leu;refseq.variantCodon_1=GCC;refseq.variantCodon_2=CTG;set=filterInsoap-gatk GT 0/1 chr19 60218893 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=20.39;MQ=98.49;MQ0=0;OQ=4154.83;QD=21.87;RankSumP=0.480799;SB=-1586.76;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.745G>A;refseq.codingCoordStr_2=c.745G>A;refseq.codonCoord_1=249;refseq.codonCoord_2=249;refseq.end_1=60218893;refseq.end_2=60218893;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=773;refseq.mrnaCoord_2=773;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A249T;refseq.proteinCoordStr_2=p.A249T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.start_1=60218893;refseq.start_2=60218893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr19 60221847 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=4715.33;QD=22.35;RankSumP=0.130445;SB=-1918.93;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.709G>A;refseq.codingCoordStr_2=c.709G>A;refseq.codonCoord_1=237;refseq.codonCoord_2=237;refseq.end_1=60221847;refseq.end_2=60221847;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=737;refseq.mrnaCoord_2=737;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E237K;refseq.proteinCoordStr_2=p.E237K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=60221847;refseq.start_2=60221847;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 0/1 chr19 60228407 . G A 42.35 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.59;RankSumP=0.666667;SB=-46.65;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.655C>T;refseq.codingCoordStr_2=c.655C>T;refseq.codonCoord_1=219;refseq.codonCoord_2=219;refseq.end_1=60228407;refseq.end_2=60228407;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=683;refseq.mrnaCoord_2=683;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P219S;refseq.proteinCoordStr_2=p.P219S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=60228407;refseq.start_2=60228407;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=FilteredInAll GT 1/0 chr19 60230792 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=7.41;MQ=98.89;MQ0=0;OQ=1541.19;QD=12.95;RankSumP=0.340159;SB=-684.88;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.576A>G;refseq.codingCoordStr_2=c.576A>G;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=60230792;refseq.end_2=60230792;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=604;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S192S;refseq.proteinCoordStr_2=p.S192S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=60230792;refseq.start_2=60230792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr19 60230873 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=98;Dels=0.00;HRun=3;HaplotypeScore=2.53;MQ=98.84;MQ0=0;OQ=1376.28;QD=14.04;RankSumP=0.112400;SB=-622.87;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.495T>C;refseq.codingCoordStr_2=c.495T>C;refseq.codonCoord_1=165;refseq.codonCoord_2=165;refseq.end_1=60230873;refseq.end_2=60230873;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=523;refseq.mrnaCoord_2=523;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F165F;refseq.proteinCoordStr_2=p.F165F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-116;refseq.spliceDist_2=-116;refseq.start_1=60230873;refseq.start_2=60230873;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr19 60230884 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=4.06;MQ=98.84;MQ0=0;OQ=1281.05;QD=12.81;RankSumP=0.181639;SB=-473.66;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.484A>C;refseq.codingCoordStr_2=c.484A>C;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=60230884;refseq.end_2=60230884;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=512;refseq.mrnaCoord_2=512;refseq.name2_1=GP6;refseq.name2_2=GP6;refseq.name_1=NM_001083899;refseq.name_2=NM_016363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R162R;refseq.proteinCoordStr_2=p.R162R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-127;refseq.spliceDist_2=-127;refseq.start_1=60230884;refseq.start_2=60230884;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr19 60259896 . C T 334.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=98.81;MQ0=0;OQ=4630.82;QD=16.84;RankSumP=0.0383982;SB=-1912.33;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.277G>A;refseq.codingCoordStr_4=c.64G>A;refseq.codonCoord_3=93;refseq.codonCoord_4=22;refseq.end_1=60259896;refseq.end_2=60259896;refseq.end_3=60259896;refseq.end_4=60259896;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=462;refseq.mrnaCoord_2=462;refseq.mrnaCoord_3=462;refseq.mrnaCoord_4=554;refseq.name2_1=RDH13;refseq.name2_2=RDH13;refseq.name2_3=RDH13;refseq.name2_4=RDH13;refseq.name_1=NR_027381;refseq.name_2=NR_027382;refseq.name_3=NM_001145971;refseq.name_4=NM_138412;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.A93T;refseq.proteinCoordStr_4=p.A22T;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.spliceDist_3=-64;refseq.spliceDist_4=-64;refseq.start_1=60259896;refseq.start_2=60259896;refseq.start_3=60259896;refseq.start_4=60259896;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 0/1 chr19 60259897 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=2;HaplotypeScore=5.82;MQ=98.81;MQ0=0;OQ=4316.40;QD=15.70;RankSumP=0.124020;SB=-1578.81;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_3=c.276C>A;refseq.codingCoordStr_4=c.63C>A;refseq.codonCoord_3=92;refseq.codonCoord_4=21;refseq.end_1=60259897;refseq.end_2=60259897;refseq.end_3=60259897;refseq.end_4=60259897;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=461;refseq.mrnaCoord_2=461;refseq.mrnaCoord_3=461;refseq.mrnaCoord_4=553;refseq.name2_1=RDH13;refseq.name2_2=RDH13;refseq.name2_3=RDH13;refseq.name2_4=RDH13;refseq.name_1=NR_027381;refseq.name_2=NR_027382;refseq.name_3=NM_001145971;refseq.name_4=NM_138412;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.N92K;refseq.proteinCoordStr_4=p.N21K;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.spliceDist_4=-65;refseq.start_1=60259897;refseq.start_2=60259897;refseq.start_3=60259897;refseq.start_4=60259897;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=Intersection GT 0/1 chr19 60282215 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.95A>G;refseq.codonCoord=32;refseq.end=60282215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_133180;refseq.name2=EPS8L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D32G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-23;refseq.start=60282215;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr19 60283953 . C G 97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500148;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.50C>G;refseq.codingCoordStr_2=c.431C>G;refseq.codonCoord_1=17;refseq.codonCoord_2=144;refseq.end_1=60283953;refseq.end_2=60283953;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=152;refseq.mrnaCoord_2=535;refseq.name2_1=EPS8L1;refseq.name2_2=EPS8L1;refseq.name_1=NM_017729;refseq.name_2=NM_133180;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A17G;refseq.proteinCoordStr_2=p.A144G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=60283953;refseq.start_2=60283953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 1/0 chr19 60283956 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=6.09309e-06;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.53A>G;refseq.codingCoordStr_2=c.434A>G;refseq.codonCoord_1=18;refseq.codonCoord_2=145;refseq.end_1=60283956;refseq.end_2=60283956;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=538;refseq.name2_1=EPS8L1;refseq.name2_2=EPS8L1;refseq.name_1=NM_017729;refseq.name_2=NM_133180;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E18G;refseq.proteinCoordStr_2=p.E145G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=60283956;refseq.start_2=60283956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 60336137 . A C 221.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.20;MQ0=0;OQ=1477.08;QD=36.03;RankSumP=1.00000;SB=-725.10;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.747T>G;refseq.codingCoordStr_2=c.714T>G;refseq.codingCoordStr_3=c.795T>G;refseq.codonCoord_1=249;refseq.codonCoord_2=238;refseq.codonCoord_3=265;refseq.end_1=60336137;refseq.end_2=60336137;refseq.end_3=60336137;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=836;refseq.mrnaCoord_2=803;refseq.mrnaCoord_3=884;refseq.name2_1=TNNT1;refseq.name2_2=TNNT1;refseq.name2_3=TNNT1;refseq.name_1=NM_001126132;refseq.name_2=NM_001126133;refseq.name_3=NM_003283;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R249R;refseq.proteinCoordStr_2=p.R238R;refseq.proteinCoordStr_3=p.R265R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=60336137;refseq.start_2=60336137;refseq.start_3=60336137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr19 60359459 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.48;MQ0=0;OQ=306.11;QD=8.06;RankSumP=0.557349;SB=-67.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.204G>T;refseq.codonCoord=68;refseq.end=60359459;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=347;refseq.name=NM_000363;refseq.name2=TNNI3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R68R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=54;refseq.start=60359459;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr19 60363112 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1271A>C;refseq.codonCoord=424;refseq.end=60363112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_178837;refseq.name2=C19orf51;refseq.positionType=CDS;refseq.proteinCoordStr=p.N424T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-34;refseq.start=60363112;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr19 60363149 . C T 84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=165;Dels=0.00;HRun=1;HaplotypeScore=18.25;MQ=96.65;MQ0=0;OQ=5152.78;QD=31.23;RankSumP=1.00000;SB=-985.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1234G>A;refseq.codonCoord=412;refseq.end=60363149;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1236;refseq.name=NM_178837;refseq.name2=C19orf51;refseq.positionType=CDS;refseq.proteinCoordStr=p.D412N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=45;refseq.start=60363149;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 60390764 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1961A>C;refseq.codingCoordStr_2=c.2495A>C;refseq.codonCoord_1=654;refseq.codonCoord_2=832;refseq.end_1=60390764;refseq.end_2=60390764;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2034;refseq.mrnaCoord_2=2568;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H654P;refseq.proteinCoordStr_2=p.H832P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=60390764;refseq.start_2=60390764;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr19 60390767 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=96.68;MQ=98.83;MQ0=0;OQ=4477.91;QD=13.95;RankSumP=0.498399;SB=-171.94;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1958G>A;refseq.codingCoordStr_2=c.2492G>A;refseq.codonCoord_1=653;refseq.codonCoord_2=831;refseq.end_1=60390767;refseq.end_2=60390767;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2031;refseq.mrnaCoord_2=2565;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G653D;refseq.proteinCoordStr_2=p.G831D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=60390767;refseq.start_2=60390767;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=soap-filterIngatk GT 0/1 chr19 60391266 . T C 430.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.68;MQ0=0;OQ=12609.82;QD=38.56;RankSumP=1.00000;SB=-2958.76;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1933A>G;refseq.codingCoordStr_2=c.2467A>G;refseq.codonCoord_1=645;refseq.codonCoord_2=823;refseq.end_1=60391266;refseq.end_2=60391266;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2006;refseq.mrnaCoord_2=2540;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K645E;refseq.proteinCoordStr_2=p.K823E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-9;refseq.spliceDist_2=-9;refseq.spliceInfo_1=splice-donor_-9;refseq.spliceInfo_2=splice-donor_-9;refseq.start_1=60391266;refseq.start_2=60391266;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr19 60400369 . A G 366.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.74;MQ0=0;OQ=6755.82;QD=35.19;RankSumP=1.00000;SB=-2918.19;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1384T>C;refseq.codingCoordStr_2=c.1918T>C;refseq.codonCoord_1=462;refseq.codonCoord_2=640;refseq.end_1=60400369;refseq.end_2=60400369;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1457;refseq.mrnaCoord_2=1991;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L462L;refseq.proteinCoordStr_2=p.L640L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=60400369;refseq.start_2=60400369;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr19 60400385 . G A 192.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=220;Dels=0.00;HRun=0;HaplotypeScore=11.25;MQ=98.79;MQ0=0;OQ=3162.00;QD=14.37;RankSumP=0.0264944;SB=-851.70;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1368C>T;refseq.codingCoordStr_2=c.1902C>T;refseq.codonCoord_1=456;refseq.codonCoord_2=634;refseq.end_1=60400385;refseq.end_2=60400385;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1441;refseq.mrnaCoord_2=1975;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A456A;refseq.proteinCoordStr_2=p.A634A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-89;refseq.spliceDist_2=-89;refseq.start_1=60400385;refseq.start_2=60400385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr19 60401886 . G A 232.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=5.37;MQ=98.67;MQ0=0;OQ=3009.47;QD=18.35;RankSumP=0.173548;SB=-1058.49;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1093C>T;refseq.codingCoordStr_2=c.1627C>T;refseq.codonCoord_1=365;refseq.codonCoord_2=543;refseq.end_1=60401886;refseq.end_2=60401886;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1166;refseq.mrnaCoord_2=1700;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L365F;refseq.proteinCoordStr_2=p.L543F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=60401886;refseq.start_2=60401886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 1/0 chr19 60405347 . G A 143.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=75.82;MQ0=47;OQ=12355.77;QD=33.94;RankSumP=1.00000;SB=-5748.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.508C>T;refseq.codingCoordStr_2=c.1042C>T;refseq.codonCoord_1=170;refseq.codonCoord_2=348;refseq.end_1=60405347;refseq.end_2=60405347;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=581;refseq.mrnaCoord_2=1115;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H170Y;refseq.proteinCoordStr_2=p.H348Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-112;refseq.spliceDist_2=-112;refseq.start_1=60405347;refseq.start_2=60405347;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr19 60407121 . C T 213.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=528;Dels=0.00;HRun=0;HaplotypeScore=14.32;MQ=97.33;MQ0=0;OQ=9731.01;QD=18.43;RankSumP=0.451930;SB=-2669.90;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.727G>A;refseq.codonCoord_2=243;refseq.end_1=60409858;refseq.end_2=60407121;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=800;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V243I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=108;refseq.start_1=60405513;refseq.start_2=60407121;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr19 60407131 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=432;Dels=0.00;HRun=1;HaplotypeScore=12.58;MQ=97.37;MQ0=0;OQ=9086.62;QD=21.03;RankSumP=0.263789;SB=-2673.67;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.717G>C;refseq.codonCoord_2=239;refseq.end_1=60409858;refseq.end_2=60407131;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=790;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S239S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=98;refseq.start_1=60405513;refseq.start_2=60407131;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr19 60407154 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=1;HaplotypeScore=22.34;MQ=97.53;MQ0=0;OQ=6489.97;QD=20.60;RankSumP=0.316857;SB=-2459.50;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.694G>A;refseq.codonCoord_2=232;refseq.end_1=60409858;refseq.end_2=60407154;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=767;refseq.name2_1=PTPRH;refseq.name2_2=PTPRH;refseq.name_1=NM_001161440;refseq.name_2=NM_002842;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D232N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=75;refseq.start_1=60405513;refseq.start_2=60407154;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAT;set=Intersection GT 0/1 chr19 60430446 . T C 337.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.98;MQ0=0;OQ=1737.89;QD=35.47;RankSumP=1.00000;SB=-839.03;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.596A>G;refseq.codonCoord=199;refseq.end=60430446;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_173804;refseq.name2=TMEM86B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H199R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=298;refseq.start=60430446;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 60430558 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.96;MQ0=0;OQ=378.00;QD=13.50;RankSumP=0.172655;SB=-145.55;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.484C>T;refseq.codonCoord=162;refseq.end=60430558;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1007;refseq.name=NM_173804;refseq.name2=TMEM86B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L162L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=186;refseq.start=60430558;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr19 60431417 . C T 129.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.28;MQ0=0;OQ=1110.21;QD=18.82;RankSumP=0.603185;SB=-373.36;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.252G>A;refseq.codonCoord=84;refseq.end=60431417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=775;refseq.name=NM_173804;refseq.name2=TMEM86B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S84S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-47;refseq.start=60431417;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr19 60431501 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=99.00;MQ0=0;OQ=503.03;QD=12.58;RankSumP=0.239108;SB=-255.71;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.168C>T;refseq.codonCoord=56;refseq.end=60431501;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_173804;refseq.name2=TMEM86B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P56P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=117;refseq.start=60431501;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr19 60516144 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.96;MQ0=0;OQ=515.70;QD=10.11;RankSumP=0.391307;SB=-171.76;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.597A>C;refseq.codonCoord=199;refseq.end=60516144;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=770;refseq.name=NM_001085488;refseq.name2=TMEM150B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L199F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=92;refseq.start=60516144;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 60571684 . C T 442.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.23;MQ0=0;OQ=4379.61;QD=38.42;RankSumP=1.00000;SB=-1711.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.246G>A;refseq.codonCoord=82;refseq.end=60571684;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=382;refseq.name=NM_000641;refseq.name2=IL11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A82A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-22;refseq.start=60571684;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 60604850 . C T 120.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=64.86;MQ0=31;OQ=1479.16;QD=20.54;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.435G>A;refseq.codonCoord=145;refseq.end=60604850;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_014501;refseq.name2=UBE2S;refseq.positionType=CDS;refseq.proteinCoordStr=p.A145A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=93;refseq.start=60604850;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr19 60658268 . A C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.0466536;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.437T>G;refseq.codingCoordStr_2=c.227T>G;refseq.codingCoordStr_3=c.485T>G;refseq.codonCoord_1=146;refseq.codonCoord_2=76;refseq.codonCoord_3=162;refseq.end_1=60658268;refseq.end_2=60658268;refseq.end_3=60658268;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=401;refseq.mrnaCoord_3=659;refseq.name2_1=ISOC2;refseq.name2_2=ISOC2;refseq.name2_3=ISOC2;refseq.name_1=NM_001136201;refseq.name_2=NM_001136202;refseq.name_3=NM_024710;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V146G;refseq.proteinCoordStr_2=p.V76G;refseq.proteinCoordStr_3=p.V162G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.start_1=60658268;refseq.start_2=60658268;refseq.start_3=60658268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=soap GT 0/1 chr19 60690074 . C T 95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=96.94;MQ0=0;OQ=164.70;QD=8.67;RankSumP=0.615851;SB=-93.57;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.560C>T;refseq.codonCoord=187;refseq.end=60690074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_020378;refseq.name2=NAT14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A187V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=488;refseq.start=60690074;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr19 60733044 . C T 116.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=97.43;MQ0=0;OQ=653.00;QD=16.74;RankSumP=0.0380969;SB=-198.70;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.915G>A;refseq.codonCoord=305;refseq.end=60733044;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=915;refseq.name=NM_001101401;refseq.name2=SBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R305R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-133;refseq.start=60733044;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr19 60733067 . C G 29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=97.37;MQ0=0;OQ=582.57;QD=34.27;RankSumP=1.00000;SB=-106.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.892G>C;refseq.codonCoord=298;refseq.end=60733067;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=892;refseq.name=NM_001101401;refseq.name2=SBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A298P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-156;refseq.start=60733067;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr19 60739260 . A G 232.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.03;MQ0=0;OQ=2312.03;QD=32.56;RankSumP=1.00000;SB=-1063.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.214T>C;refseq.codonCoord=72;refseq.end=60739260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=214;refseq.name=NM_001101401;refseq.name2=SBK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C72R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-40;refseq.start=60739260;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr19 60781946 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=3.52845e-06;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.872T>G;refseq.codonCoord=291;refseq.end=60781946;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_152600;refseq.name2=ZNF579;refseq.positionType=CDS;refseq.proteinCoordStr=p.V291G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=874;refseq.start=60781946;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr19 60795948 . T C 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=93.41;MQ0=0;OQ=394.43;QD=24.65;RankSumP=1.00000;SB=-36.67;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1171A>G;refseq.codonCoord=391;refseq.end=60795948;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1261;refseq.name=NM_032836;refseq.name2=FIZ1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T391A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=877;refseq.start=60795948;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr19 60805857 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=97.54;MQ0=0;OQ=377.41;QD=13.98;RankSumP=0.0683070;SB=-103.93;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.567C>T;refseq.codonCoord=189;refseq.end=60805857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=650;refseq.name=NM_153219;refseq.name2=ZNF524;refseq.positionType=CDS;refseq.proteinCoordStr=p.H189H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-460;refseq.start=60805857;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr19 60806049 . G A 62.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=686.92;QD=34.35;RankSumP=1.00000;SB=-135.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.759G>A;refseq.codonCoord=253;refseq.end=60806049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_153219;refseq.name2=ZNF524;refseq.positionType=CDS;refseq.proteinCoordStr=p.E253E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-268;refseq.start=60806049;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 60854588 . C T 323.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=779.17;QD=41.01;RankSumP=1.00000;SB=-249.33;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.441C>T;refseq.codonCoord=147;refseq.end=60854588;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_013301;refseq.name2=CCDC106;refseq.positionType=CDS;refseq.proteinCoordStr=p.S147S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-86;refseq.start=60854588;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr19 60872780 . C T 461.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.77;MQ0=0;OQ=5630.65;QD=38.30;RankSumP=1.00000;SB=-1989.98;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.1191C>T;refseq.codingCoordStr_2=c.1203C>T;refseq.codonCoord_1=397;refseq.codonCoord_2=401;refseq.end_1=60872780;refseq.end_2=60872780;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2246;refseq.mrnaCoord_2=2258;refseq.name2_1=U2AF2;refseq.name2_2=U2AF2;refseq.name_1=NM_001012478;refseq.name_2=NM_007279;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D397D;refseq.proteinCoordStr_2=p.D401D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-91;refseq.spliceDist_2=-91;refseq.start_1=60872780;refseq.start_2=60872780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr19 60933077 . A G 426.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=98.08;MQ0=0;OQ=7561.66;QD=38.19;RankSumP=1.00000;SB=-3164.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1926T>C;refseq.codonCoord=642;refseq.end=60933077;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1954;refseq.name=NM_176820;refseq.name2=NLRP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L642L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-69;refseq.start=60933077;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr19 60999395 . A G 357.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.28;MQ0=0;OQ=9824.42;QD=38.38;RankSumP=1.00000;SB=-3699.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2205T>C;refseq.codonCoord=735;refseq.end=60999395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2916;refseq.name=NM_145007;refseq.name2=NLRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.C735C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=34;refseq.start=60999395;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr19 61013226 . C A 309.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.78;MQ0=0;OQ=5207.65;QD=38.58;RankSumP=1.00000;SB=-1655.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.562G>T;refseq.codonCoord=188;refseq.end=61013226;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1273;refseq.name=NM_145007;refseq.name2=NLRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A188S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=291;refseq.start=61013226;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr19 61013329 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=3;HaplotypeScore=7.98;MQ=99.00;MQ0=0;OQ=1329.18;QD=14.45;RankSumP=0.355479;SB=-681.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.459A>G;refseq.codonCoord=153;refseq.end=61013329;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1170;refseq.name=NM_145007;refseq.name2=NLRP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.G153G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=188;refseq.start=61013329;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/0 chr19 61064702 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=396;Dels=0.00;HRun=0;HaplotypeScore=9.73;MQ=98.59;MQ0=0;OQ=7335.62;QD=18.52;RankSumP=0.0565021;SB=-2830.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1995C>T;refseq.codonCoord=665;refseq.end=61064702;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2417;refseq.name=NM_134444;refseq.name2=NLRP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P665P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-24;refseq.start=61064702;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr19 61102034 . C T 262.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.91;MQ0=0;OQ=3924.69;QD=18.09;RankSumP=0.393173;SB=-769.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2871G>A;refseq.codonCoord=957;refseq.end=61102034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2896;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.L957L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=82;refseq.start=61102034;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 0/1 chr19 61114886 . C G 169.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.87;MQ0=0;OQ=14749.39;QD=45.81;RankSumP=1.00000;SB=-5807.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2109G>C;refseq.codonCoord=703;refseq.end=61114886;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2134;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.L703L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=61114886;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr19 61115066 . G A 270.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.83;MQ0=0;OQ=14972.45;QD=41.82;RankSumP=1.00000;SB=-5863.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1929C>T;refseq.codonCoord=643;refseq.end=61115066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1954;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.H643H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-183;refseq.start=61115066;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr19 61115480 . G A 310.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=5412.06;QD=42.28;RankSumP=1.00000;SB=-2171.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1515C>T;refseq.codonCoord=505;refseq.end=61115480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1540;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.I505I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-597;refseq.start=61115480;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr19 61115504 . C T 432.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.88;MQ0=0;OQ=6577.26;QD=40.60;RankSumP=1.00000;SB=-2603.76;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1491G>A;refseq.codonCoord=497;refseq.end=61115504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1516;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T497T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-621;refseq.start=61115504;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr19 61115540 . A G 261.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=98.91;MQ0=0;OQ=8723.91;QD=39.84;RankSumP=1.00000;SB=-2958.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1455T>C;refseq.codonCoord=485;refseq.end=61115540;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.S485S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-657;refseq.start=61115540;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr19 61115705 . G A 273.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.76;MQ0=0;OQ=6731.65;QD=42.34;RankSumP=1.00000;SB=-1791.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1290C>T;refseq.codonCoord=430;refseq.end=61115705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1315;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.T430T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=767;refseq.start=61115705;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr19 61116255 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=230;Dels=0.00;HRun=2;HaplotypeScore=5.24;MQ=98.48;MQ0=0;OQ=7767.64;QD=33.77;RankSumP=1.00000;SB=-2774.79;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.740A>G;refseq.codonCoord=247;refseq.end=61116255;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_176810;refseq.name2=NLRP13;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q247R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=217;refseq.start=61116255;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr19 61165272 . T C 163.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=663;Dels=0.00;HRun=0;HaplotypeScore=14.49;MQ=98.80;MQ0=0;OQ=11891.07;QD=17.94;RankSumP=0.365811;SB=-4198.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2070T>C;refseq.codonCoord=690;refseq.end=61165272;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2141;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.R690R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=28;refseq.start=61165272;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr19 61169499 . A G 162.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.85;MQ0=0;OQ=2338.03;QD=13.92;RankSumP=0.133182;SB=-861.42;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.2322A>G;refseq.codonCoord=774;refseq.end=61169499;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2393;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K774K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-60;refseq.start=61169499;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr19 61173873 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2533T>G;refseq.codonCoord=845;refseq.end=61173873;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2604;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S845A;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=61173873;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 1/0 chr19 61176889 . A G 114.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=1;HaplotypeScore=2.48;MQ=98.48;MQ0=0;OQ=2997.65;QD=14.99;RankSumP=0.332945;SB=-1133.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2594A>G;refseq.codonCoord=865;refseq.end=61176889;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2665;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q865R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=60;refseq.start=61176889;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr19 61179415 . A G 143.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=400;Dels=0.00;HRun=2;HaplotypeScore=7.94;MQ=98.71;MQ0=0;OQ=7502.24;QD=18.76;RankSumP=0.231707;SB=-2259.61;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2810A>G;refseq.codonCoord=937;refseq.end=61179415;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2881;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.K937R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-67;refseq.start=61179415;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 0/1 chr19 61182577 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2882A>G;refseq.codonCoord=961;refseq.end=61182577;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2953;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.E961G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=61182577;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chr19 61191091 . G C 103.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=14.72;MQ=99.00;MQ0=0;OQ=4807.25;QD=23.68;RankSumP=0.445926;SB=-1107.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.3147G>C;refseq.codonCoord=1049;refseq.end=61191091;refseq.frame=2;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3218;refseq.name=NM_176811;refseq.name2=NLRP8;refseq.positionType=CDS;refseq.proteinCoordStr=p.*1049Y;refseq.referenceAA=Stop;refseq.referenceCodon=TAG;refseq.spliceDist=100;refseq.start=61191091;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr19 61291252 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.0476190;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1101C>G;refseq.codonCoord=367;refseq.end=61291252;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1220;refseq.name=NM_001002836;refseq.name2=ZNF787;refseq.positionType=CDS;refseq.proteinCoordStr=p.D367E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-709;refseq.start=61291252;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 0/1 chr19 61386317 . C T 402.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.64;MQ0=0;OQ=5681.02;QD=40.58;RankSumP=1.00000;SB=-850.36;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.*20C>T;refseq.codingCoordStr_2=c.219C>T;refseq.codonCoord_2=73;refseq.end_1=61386317;refseq.end_2=61386317;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=252;refseq.mrnaCoord_2=301;refseq.name2_1=GALP;refseq.name2_2=GALP;refseq.name_1=NM_001145546;refseq.name_2=NM_033106;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D73D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=61386317;refseq.start_2=61386317;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chr19 61425237 . C A 174.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=97.59;MQ0=0;OQ=1750.24;QD=17.33;RankSumP=0.481389;SB=-563.67;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1010G>T;refseq.codonCoord=337;refseq.end=61425237;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1176;refseq.name=NM_024303;refseq.name2=ZSCAN5A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G337V;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=271;refseq.start=61425237;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr19 61587308 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=2;HaplotypeScore=12.32;MQ=98.69;MQ0=0;OQ=5559.05;QD=18.53;RankSumP=0.230406;SB=-2239.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1290G>A;refseq.codonCoord=430;refseq.end=61587308;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1449;refseq.name=NM_144690;refseq.name2=ZNF582;refseq.positionType=CDS;refseq.proteinCoordStr=p.K430K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-849;refseq.start=61587308;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr19 61627339 . A G 290.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=8.97;MQ=99.00;MQ0=0;OQ=8119.22;QD=38.12;RankSumP=1.00000;SB=-3663.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.1500A>G;refseq.codingCoordStr_2=c.1500A>G;refseq.codingCoordStr_3=c.1500A>G;refseq.codonCoord_1=500;refseq.codonCoord_2=500;refseq.codonCoord_3=500;refseq.end_1=61627339;refseq.end_2=61627339;refseq.end_3=61627339;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1665;refseq.mrnaCoord_2=1670;refseq.mrnaCoord_3=1717;refseq.name2_1=ZNF583;refseq.name2_2=ZNF583;refseq.name2_3=ZNF583;refseq.name_1=NM_001159860;refseq.name_2=NM_001159861;refseq.name_3=NM_152478;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A500A;refseq.proteinCoordStr_2=p.A500A;refseq.proteinCoordStr_3=p.A500A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-874;refseq.spliceDist_2=-874;refseq.spliceDist_3=-874;refseq.start_1=61627339;refseq.start_2=61627339;refseq.start_3=61627339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr19 61645397 . T C 303.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=342;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=98.66;MQ0=0;OQ=14151.24;QD=41.38;RankSumP=1.00000;SB=-5016.60;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.779A>G;refseq.codonCoord_2=260;refseq.end_1=61645397;refseq.end_2=61645397;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1570;refseq.mrnaCoord_2=968;refseq.name2_1=ZNF667;refseq.name2_2=ZNF667;refseq.name_1=NR_030740;refseq.name_2=NM_022103;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K260R;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=526;refseq.spliceDist_2=526;refseq.start_1=61645397;refseq.start_2=61645397;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr19 61645675 . T C 95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=6654.33;QD=38.69;RankSumP=1.00000;SB=-3128.54;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.501A>G;refseq.codonCoord_2=167;refseq.end_1=61645675;refseq.end_2=61645675;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=690;refseq.name2_1=ZNF667;refseq.name2_2=ZNF667;refseq.name_1=NR_030740;refseq.name_2=NM_022103;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T167T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=248;refseq.spliceDist_2=248;refseq.start_1=61645675;refseq.start_2=61645675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr19 61727824 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=99.00;MQ0=0;OQ=1241.36;QD=17.48;RankSumP=0.388116;SB=-359.03;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.576G>T;refseq.codonCoord=192;refseq.end=61727824;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=709;refseq.name=NM_020813;refseq.name2=ZNF471;refseq.positionType=CDS;refseq.proteinCoordStr=p.M192I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=320;refseq.start=61727824;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr19 61728465 . G A 318.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=98.78;MQ0=0;OQ=2792.09;QD=20.38;RankSumP=0.173604;SB=-1392.49;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1217G>A;refseq.codonCoord=406;refseq.end=61728465;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1350;refseq.name=NM_020813;refseq.name2=ZNF471;refseq.positionType=CDS;refseq.proteinCoordStr=p.G406D;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=961;refseq.start=61728465;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr19 61728915 . C G 253.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=2105.94;QD=17.70;RankSumP=0.425460;SB=-879.95;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1667C>G;refseq.codonCoord=556;refseq.end=61728915;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_020813;refseq.name2=ZNF471;refseq.positionType=CDS;refseq.proteinCoordStr=p.S556C;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1411;refseq.start=61728915;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr19 61757001 . T C 316.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.88;MQ0=0;OQ=4141.93;QD=18.74;RankSumP=0.475385;SB=-1690.60;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=61757001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1106;refseq.name=NM_020828;refseq.name2=ZFP28;refseq.positionType=CDS;refseq.proteinCoordStr=p.F345F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=137;refseq.start=61757001;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr19 61757825 . C T 218.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=98.82;MQ0=0;OQ=1263.28;QD=15.41;RankSumP=0.189815;SB=-570.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1859C>T;refseq.codonCoord=620;refseq.end=61757825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1930;refseq.name=NM_020828;refseq.name2=ZFP28;refseq.positionType=CDS;refseq.proteinCoordStr=p.A620V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=961;refseq.start=61757825;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 61777581 . G C 230.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=397;Dels=0.00;HRun=0;HaplotypeScore=11.55;MQ=99.00;MQ0=0;OQ=9038.90;QD=22.77;RankSumP=0.481027;SB=-3728.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.67G>C;refseq.codonCoord=23;refseq.end=61777581;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_001001668;refseq.name2=ZNF470;refseq.positionType=CDS;refseq.proteinCoordStr=p.V23L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=61777581;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr19 61780862 . C T 197.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=98.85;MQ0=0;OQ=5561.51;QD=19.79;RankSumP=0.336898;SB=-2115.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1253C>T;refseq.codonCoord=418;refseq.end=61780862;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1929;refseq.name=NM_001001668;refseq.name2=ZNF470;refseq.positionType=CDS;refseq.proteinCoordStr=p.T418I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=970;refseq.start=61780862;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr19 61781187 . A G 297.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.51;MQ0=0;OQ=2066.76;QD=16.53;RankSumP=0.394411;SB=-882.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1578A>G;refseq.codonCoord=526;refseq.end=61781187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2254;refseq.name=NM_001001668;refseq.name2=ZNF470;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q526Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=1295;refseq.start=61781187;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr19 61825445 . C T 265.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=281;Dels=0.00;HRun=0;HaplotypeScore=9.43;MQ=98.31;MQ0=0;OQ=5296.03;QD=18.85;RankSumP=0.454145;SB=-2084.04;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.978C>T;refseq.codonCoord=326;refseq.end=61825445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1216;refseq.name=NM_021216;refseq.name2=ZNF71;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y326Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=998;refseq.start=61825445;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr19 61985206 . A G 246.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=14.02;MQ=98.69;MQ0=0;OQ=4527.43;QD=20.96;RankSumP=0.341432;SB=-1390.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_1=c.573T>C;refseq.codingCoordStr_2=c.573T>C;refseq.codingCoordStr_3=c.573T>C;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.codonCoord_3=191;refseq.end_1=61985206;refseq.end_2=61985206;refseq.end_3=61985206;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1029;refseq.mrnaCoord_2=1116;refseq.mrnaCoord_3=953;refseq.name2_1=ZIM2;refseq.name2_2=ZIM2;refseq.name2_3=ZIM2;refseq.name_1=NM_001146326;refseq.name_2=NM_001146327;refseq.name_3=NM_015363;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S191S;refseq.proteinCoordStr_2=p.S191S;refseq.proteinCoordStr_3=p.S191S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.start_1=61985206;refseq.start_2=61985206;refseq.start_3=61985206;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr19 62026834 . G A 340.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=98.97;MQ0=0;OQ=6912.87;QD=19.75;RankSumP=0.247487;SB=-2745.36;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.chr_8=chr19;refseq.codingCoordStr_1=c.420C>T;refseq.codingCoordStr_2=c.42C>T;refseq.codingCoordStr_3=c.420C>T;refseq.codingCoordStr_4=c.42C>T;refseq.codingCoordStr_5=c.42C>T;refseq.codingCoordStr_6=c.42C>T;refseq.codingCoordStr_7=c.420C>T;refseq.codingCoordStr_8=c.42C>T;refseq.codonCoord_1=140;refseq.codonCoord_2=14;refseq.codonCoord_3=140;refseq.codonCoord_4=14;refseq.codonCoord_5=14;refseq.codonCoord_6=14;refseq.codonCoord_7=140;refseq.codonCoord_8=14;refseq.end_1=62026834;refseq.end_2=62026834;refseq.end_3=62026834;refseq.end_4=62026834;refseq.end_5=62026834;refseq.end_6=62026834;refseq.end_7=62026834;refseq.end_8=62026834;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=738;refseq.mrnaCoord_2=424;refseq.mrnaCoord_3=771;refseq.mrnaCoord_4=424;refseq.mrnaCoord_5=498;refseq.mrnaCoord_6=585;refseq.mrnaCoord_7=814;refseq.mrnaCoord_8=422;refseq.name2_1=PEG3;refseq.name2_2=PEG3;refseq.name2_3=PEG3;refseq.name2_4=PEG3;refseq.name2_5=ZIM2;refseq.name2_6=ZIM2;refseq.name2_7=PEG3;refseq.name2_8=ZIM2;refseq.name_1=NM_001146184;refseq.name_2=NM_001146185;refseq.name_3=NM_001146186;refseq.name_4=NM_001146187;refseq.name_5=NM_001146326;refseq.name_6=NM_001146327;refseq.name_7=NM_006210;refseq.name_8=NM_015363;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.S140S;refseq.proteinCoordStr_2=p.S14S;refseq.proteinCoordStr_3=p.S140S;refseq.proteinCoordStr_4=p.S14S;refseq.proteinCoordStr_5=p.S14S;refseq.proteinCoordStr_6=p.S14S;refseq.proteinCoordStr_7=p.S140S;refseq.proteinCoordStr_8=p.S14S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.referenceCodon_7=AGC;refseq.referenceCodon_8=AGC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.spliceDist_6=26;refseq.spliceDist_7=26;refseq.spliceDist_8=26;refseq.start_1=62026834;refseq.start_2=62026834;refseq.start_3=62026834;refseq.start_4=62026834;refseq.start_5=62026834;refseq.start_6=62026834;refseq.start_7=62026834;refseq.start_8=62026834;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantAA_6=Ser;refseq.variantAA_7=Ser;refseq.variantAA_8=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;refseq.variantCodon_6=AGT;refseq.variantCodon_7=AGT;refseq.variantCodon_8=AGT;set=Intersection GT 1/0 chr19 62334575 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2720T>G;refseq.codonCoord=907;refseq.end=62334575;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3076;refseq.name=NM_020903;refseq.name2=USP29;refseq.positionType=CDS;refseq.proteinCoordStr=p.V907G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-531;refseq.start=62334575;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 62334594 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=640;Dels=0.00;HRun=1;HaplotypeScore=28.13;MQ=98.74;MQ0=0;OQ=10555.86;QD=16.49;RankSumP=0.00929264;SB=-4171.46;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2739C>A;refseq.codonCoord=913;refseq.end=62334594;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3095;refseq.name=NM_020903;refseq.name2=USP29;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y913*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-512;refseq.start=62334594;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=filterInsoap-gatk GT 1/0 chr19 62414819 . G C 157.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=17.70;MQ=98.73;MQ0=0;OQ=5062.32;QD=21.73;RankSumP=3.05768e-06;SB=-1591.80;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.542G>C;refseq.codonCoord=181;refseq.end=62414819;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_003417;refseq.name2=ZNF264;refseq.positionType=CDS;refseq.proteinCoordStr=p.R181T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=286;refseq.start=62414819;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=filterInsoap-gatk GT 0/1 chr19 62414825 . G A 344.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.84;MQ0=0;OQ=3941.71;QD=18.77;RankSumP=2.14754e-09;SB=-1211.34;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.548G>A;refseq.codonCoord=183;refseq.end=62414825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_003417;refseq.name2=ZNF264;refseq.positionType=CDS;refseq.proteinCoordStr=p.R183H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=292;refseq.start=62414825;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=filterInsoap-gatk GT 1/0 chr19 62526890 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.47T>G;refseq.codonCoord=16;refseq.end=62526890;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.V16G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=62526890;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr19 62529830 . C G 306.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.44;MQ0=0;OQ=6752.18;QD=19.98;RankSumP=0.178720;SB=-1921.18;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.163C>G;refseq.codonCoord=55;refseq.end=62529830;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.P55A;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=18;refseq.start=62529830;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr19 62530962 . A G 366.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.87;MQ0=0;OQ=9012.91;QD=38.19;RankSumP=1.00000;SB=-3412.20;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.320A>G;refseq.codonCoord=107;refseq.end=62530962;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=665;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q107R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=79;refseq.start=62530962;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr19 62531379 . T A 276.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=98.18;MQ0=0;OQ=10622.21;QD=37.94;RankSumP=1.00000;SB=-5131.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.737T>A;refseq.codonCoord=246;refseq.end=62531379;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1082;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.L246H;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=496;refseq.start=62531379;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr19 62531502 . A T 131.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=80.91;MQ0=17;OQ=2652.79;QD=15.16;RankSumP=0.432972;SB=-1024.16;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.860A>T;refseq.codonCoord=287;refseq.end=62531502;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1205;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.E287V;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=619;refseq.start=62531502;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr19 62532359 . A G 267.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=98.54;MQ0=0;OQ=7111.92;QD=23.32;RankSumP=0.334690;SB=-2940.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1717A>G;refseq.codonCoord=573;refseq.end=62532359;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2062;refseq.name=NM_213598;refseq.name2=ZNF543;refseq.positionType=CDS;refseq.proteinCoordStr=p.M573V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=1476;refseq.start=62532359;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr19 62556961 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=367;Dels=0.00;HRun=1;HaplotypeScore=12.29;MQ=98.97;MQ0=0;OQ=7482.49;QD=20.39;RankSumP=0.434271;SB=-3192.43;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.90C>T;refseq.codonCoord=30;refseq.end=62556961;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_020657;refseq.name2=ZNF304;refseq.positionType=CDS;refseq.proteinCoordStr=p.L30L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=57;refseq.start=62556961;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 0/1 chr19 62560148 . A G 389.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=98.75;MQ0=0;OQ=7753.60;QD=36.40;RankSumP=1.00000;SB=-3019.16;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1099A>G;refseq.codonCoord=367;refseq.end=62560148;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1487;refseq.name=NM_020657;refseq.name2=ZNF304;refseq.positionType=CDS;refseq.proteinCoordStr=p.K367E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=939;refseq.start=62560148;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 62560691 . T C 179.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=4589.78;QD=21.05;RankSumP=0.270815;SB=-1752.26;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1642T>C;refseq.codonCoord=548;refseq.end=62560691;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2030;refseq.name=NM_020657;refseq.name2=ZNF304;refseq.positionType=CDS;refseq.proteinCoordStr=p.L548L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=1482;refseq.start=62560691;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr19 62677272 . T A 144.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=2860.12;QD=15.80;RankSumP=0.344351;SB=-903.93;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.652A>T;refseq.codingCoordStr_2=c.529A>T;refseq.codonCoord_1=218;refseq.codonCoord_2=177;refseq.end_1=62677272;refseq.end_2=62677272;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=913;refseq.mrnaCoord_2=790;refseq.name2_1=ZNF772;refseq.name2_2=ZNF772;refseq.name_1=NM_001024596;refseq.name_2=NM_001144068;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M218L;refseq.proteinCoordStr_2=p.M177L;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=330;refseq.spliceDist_2=330;refseq.start_1=62677272;refseq.start_2=62677272;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr19 62677378 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=310;Dels=0.00;HRun=1;HaplotypeScore=2.83;MQ=98.89;MQ0=0;OQ=7198.01;QD=23.22;RankSumP=0.103599;SB=-3065.36;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.546C>G;refseq.codingCoordStr_2=c.423C>G;refseq.codonCoord_1=182;refseq.codonCoord_2=141;refseq.end_1=62677378;refseq.end_2=62677378;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=684;refseq.name2_1=ZNF772;refseq.name2_2=ZNF772;refseq.name_1=NM_001024596;refseq.name_2=NM_001144068;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C182W;refseq.proteinCoordStr_2=p.C141W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=224;refseq.spliceDist_2=224;refseq.start_1=62677378;refseq.start_2=62677378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 0/1 chr19 62678916 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=356;Dels=0.00;HRun=0;HaplotypeScore=35.62;MQ=98.34;MQ0=0;OQ=7034.90;QD=19.76;RankSumP=0.161307;SB=-2921.22;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.123G>A;refseq.codingCoordStr_2=c.123G>A;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=62678916;refseq.end_2=62678916;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=384;refseq.mrnaCoord_2=384;refseq.name2_1=ZNF772;refseq.name2_2=ZNF772;refseq.name_1=NM_001024596;refseq.name_2=NM_001144068;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.W41*;refseq.proteinCoordStr_2=p.W41*;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=62678916;refseq.start_2=62678916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;set=Intersection GT 0/1 chr19 62678959 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_1=c.80T>G;refseq.codingCoordStr_2=c.80T>G;refseq.codonCoord_1=27;refseq.codonCoord_2=27;refseq.end_1=62678959;refseq.end_2=62678959;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=341;refseq.mrnaCoord_2=341;refseq.name2_1=ZNF772;refseq.name2_2=ZNF772;refseq.name_1=NM_001024596;refseq.name_2=NM_001144068;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V27G;refseq.proteinCoordStr_2=p.V27G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=62678959;refseq.start_2=62678959;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr19 62694776 . G C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=1.38;MQ=37.54;MQ0=151;OQ=1727.19;QD=7.02;RankSumP=0.511489;SB=-819.61;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.201G>C;refseq.codingCoordStr_2=c.162G>C;refseq.codingCoordStr_3=c.159G>C;refseq.codingCoordStr_4=c.201G>C;refseq.codingCoordStr_5=c.162G>C;refseq.codingCoordStr_6=c.159G>C;refseq.codingCoordStr_7=c.198G>C;refseq.codonCoord_1=67;refseq.codonCoord_2=54;refseq.codonCoord_3=53;refseq.codonCoord_4=67;refseq.codonCoord_5=54;refseq.codonCoord_6=53;refseq.codonCoord_7=66;refseq.end_1=62694776;refseq.end_2=62694776;refseq.end_3=62694776;refseq.end_4=62694776;refseq.end_5=62694776;refseq.end_6=62694776;refseq.end_7=62694776;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=441;refseq.mrnaCoord_2=402;refseq.mrnaCoord_3=399;refseq.mrnaCoord_4=441;refseq.mrnaCoord_5=402;refseq.mrnaCoord_6=399;refseq.mrnaCoord_7=438;refseq.name2_1=ZNF419;refseq.name2_2=ZNF419;refseq.name2_3=ZNF419;refseq.name2_4=ZNF419;refseq.name2_5=ZNF419;refseq.name2_6=ZNF419;refseq.name2_7=ZNF419;refseq.name_1=NM_001098491;refseq.name_2=NM_001098492;refseq.name_3=NM_001098493;refseq.name_4=NM_001098494;refseq.name_5=NM_001098495;refseq.name_6=NM_001098496;refseq.name_7=NM_024691;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.L67L;refseq.proteinCoordStr_2=p.L54L;refseq.proteinCoordStr_3=p.L53L;refseq.proteinCoordStr_4=p.L67L;refseq.proteinCoordStr_5=p.L54L;refseq.proteinCoordStr_6=p.L53L;refseq.proteinCoordStr_7=p.L66L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceAA_6=Leu;refseq.referenceAA_7=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.referenceCodon_3=CTG;refseq.referenceCodon_4=CTG;refseq.referenceCodon_5=CTG;refseq.referenceCodon_6=CTG;refseq.referenceCodon_7=CTG;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceDist_5=-2;refseq.spliceDist_6=-2;refseq.spliceDist_7=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.spliceInfo_5=splice-donor_-2;refseq.spliceInfo_6=splice-donor_-2;refseq.spliceInfo_7=splice-donor_-2;refseq.start_1=62694776;refseq.start_2=62694776;refseq.start_3=62694776;refseq.start_4=62694776;refseq.start_5=62694776;refseq.start_6=62694776;refseq.start_7=62694776;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantAA_6=Leu;refseq.variantAA_7=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;refseq.variantCodon_5=CTC;refseq.variantCodon_6=CTC;refseq.variantCodon_7=CTC;set=Intersection GT 0/1 chr19 62696158 . G C 187.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=86.19;MQ0=10;OQ=2504.33;QD=19.72;RankSumP=0.455728;SB=-735.05;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.424G>C;refseq.codingCoordStr_2=c.385G>C;refseq.codingCoordStr_3=c.382G>C;refseq.codingCoordStr_4=c.325G>C;refseq.codingCoordStr_5=c.286G>C;refseq.codingCoordStr_6=c.283G>C;refseq.codingCoordStr_7=c.421G>C;refseq.codonCoord_1=142;refseq.codonCoord_2=129;refseq.codonCoord_3=128;refseq.codonCoord_4=109;refseq.codonCoord_5=96;refseq.codonCoord_6=95;refseq.codonCoord_7=141;refseq.end_1=62696158;refseq.end_2=62696158;refseq.end_3=62696158;refseq.end_4=62696158;refseq.end_5=62696158;refseq.end_6=62696158;refseq.end_7=62696158;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=664;refseq.mrnaCoord_2=625;refseq.mrnaCoord_3=622;refseq.mrnaCoord_4=565;refseq.mrnaCoord_5=526;refseq.mrnaCoord_6=523;refseq.mrnaCoord_7=661;refseq.name2_1=ZNF419;refseq.name2_2=ZNF419;refseq.name2_3=ZNF419;refseq.name2_4=ZNF419;refseq.name2_5=ZNF419;refseq.name2_6=ZNF419;refseq.name2_7=ZNF419;refseq.name_1=NM_001098491;refseq.name_2=NM_001098492;refseq.name_3=NM_001098493;refseq.name_4=NM_001098494;refseq.name_5=NM_001098495;refseq.name_6=NM_001098496;refseq.name_7=NM_024691;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.E142Q;refseq.proteinCoordStr_2=p.E129Q;refseq.proteinCoordStr_3=p.E128Q;refseq.proteinCoordStr_4=p.E109Q;refseq.proteinCoordStr_5=p.E96Q;refseq.proteinCoordStr_6=p.E95Q;refseq.proteinCoordStr_7=p.E141Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.referenceCodon_7=GAG;refseq.spliceDist_1=123;refseq.spliceDist_2=123;refseq.spliceDist_3=123;refseq.spliceDist_4=123;refseq.spliceDist_5=123;refseq.spliceDist_6=123;refseq.spliceDist_7=123;refseq.start_1=62696158;refseq.start_2=62696158;refseq.start_3=62696158;refseq.start_4=62696158;refseq.start_5=62696158;refseq.start_6=62696158;refseq.start_7=62696158;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_6=CAG;refseq.variantCodon_7=CAG;set=Intersection GT 0/1 chr19 62696743 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=52.88;MQ0=84;OQ=1452.61;QD=4.86;RankSumP=0.366383;SB=163.46;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.chr_6=chr19;refseq.chr_7=chr19;refseq.codingCoordStr_1=c.1009A>G;refseq.codingCoordStr_2=c.970A>G;refseq.codingCoordStr_3=c.967A>G;refseq.codingCoordStr_4=c.910A>G;refseq.codingCoordStr_5=c.871A>G;refseq.codingCoordStr_6=c.868A>G;refseq.codingCoordStr_7=c.1006A>G;refseq.codonCoord_1=337;refseq.codonCoord_2=324;refseq.codonCoord_3=323;refseq.codonCoord_4=304;refseq.codonCoord_5=291;refseq.codonCoord_6=290;refseq.codonCoord_7=336;refseq.end_1=62696743;refseq.end_2=62696743;refseq.end_3=62696743;refseq.end_4=62696743;refseq.end_5=62696743;refseq.end_6=62696743;refseq.end_7=62696743;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1249;refseq.mrnaCoord_2=1210;refseq.mrnaCoord_3=1207;refseq.mrnaCoord_4=1150;refseq.mrnaCoord_5=1111;refseq.mrnaCoord_6=1108;refseq.mrnaCoord_7=1246;refseq.name2_1=ZNF419;refseq.name2_2=ZNF419;refseq.name2_3=ZNF419;refseq.name2_4=ZNF419;refseq.name2_5=ZNF419;refseq.name2_6=ZNF419;refseq.name2_7=ZNF419;refseq.name_1=NM_001098491;refseq.name_2=NM_001098492;refseq.name_3=NM_001098493;refseq.name_4=NM_001098494;refseq.name_5=NM_001098495;refseq.name_6=NM_001098496;refseq.name_7=NM_024691;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.I337V;refseq.proteinCoordStr_2=p.I324V;refseq.proteinCoordStr_3=p.I323V;refseq.proteinCoordStr_4=p.I304V;refseq.proteinCoordStr_5=p.I291V;refseq.proteinCoordStr_6=p.I290V;refseq.proteinCoordStr_7=p.I336V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.referenceCodon_7=ATT;refseq.spliceDist_1=708;refseq.spliceDist_2=708;refseq.spliceDist_3=708;refseq.spliceDist_4=708;refseq.spliceDist_5=708;refseq.spliceDist_6=708;refseq.spliceDist_7=708;refseq.start_1=62696743;refseq.start_2=62696743;refseq.start_3=62696743;refseq.start_4=62696743;refseq.start_5=62696743;refseq.start_6=62696743;refseq.start_7=62696743;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;refseq.variantCodon_7=GTT;set=Intersection GT 0/1 chr19 62709565 rs61731281 C A 1978.65 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=96.40;MQ0=1;QD=9.99;SB=-876.84;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.290C>A;refseq.codonCoord=97;refseq.end=62709565;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=430;refseq.name=NM_198542;refseq.name2=ZNF773;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=28;refseq.start=62709565;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:125,73:187:-257.45,-56.30,-526.59:99 chr19 62709566 rs61737910 A G 2125.56 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=96.41;MQ0=1;QD=10.52;SB=-816.94;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.291A>G;refseq.codonCoord=97;refseq.end=62709566;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=431;refseq.name=NM_198542;refseq.name2=ZNF773;refseq.positionType=CDS;refseq.proteinCoordStr=p.A97A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=29;refseq.start=62709566;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:128,74:189:-272.75,-56.91,-549.84:99 chr19 62709570 rs55823456 G C 2760.11 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=207;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=96.38;MQ0=1;QD=13.33;SB=-1327.65;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.295G>C;refseq.codonCoord=99;refseq.end=62709570;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_198542;refseq.name2=ZNF773;refseq.positionType=CDS;refseq.proteinCoordStr=p.A99P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=33;refseq.start=62709570;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:130,77:195:-338.01,-58.72,-631.28:99 chr19 62710430 . A G 234.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=75.31;MQ0=30;OQ=8080.21;QD=18.66;RankSumP=4.85910e-05;SB=-3313.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1155A>G;refseq.codonCoord=385;refseq.end=62710430;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1295;refseq.name=NM_198542;refseq.name2=ZNF773;refseq.positionType=CDS;refseq.proteinCoordStr=p.K385K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-893;refseq.start=62710430;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=filterInsoap-gatk GT 0/1 chr19 62730776 . T A 264.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=4.74;MQ=98.76;MQ0=0;OQ=2855.66;QD=36.15;RankSumP=1.00000;SB=-1339.53;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.23T>A;refseq.codonCoord=8;refseq.end=62730776;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=272;refseq.name=NM_153263;refseq.name2=ZNF549;refseq.positionType=CDS;refseq.proteinCoordStr=p.I8N;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-11;refseq.start=62730776;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr19 62750348 . A G 432.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.87;MQ0=0;OQ=6829.95;QD=39.48;RankSumP=1.00000;SB=-3248.95;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.953T>C;refseq.codonCoord=318;refseq.end=62750348;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_001039654;refseq.name2=ZNF550;refseq.positionType=CDS;refseq.proteinCoordStr=p.I318T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-194;refseq.start=62750348;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr19 62750551 . T C 294.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=98.79;MQ0=0;OQ=2700.06;QD=15.70;RankSumP=0.268423;SB=-1166.01;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.750A>G;refseq.codonCoord=250;refseq.end=62750551;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=750;refseq.name=NM_001039654;refseq.name2=ZNF550;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q250Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-397;refseq.start=62750551;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 62776414 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.670T>C;refseq.codonCoord=224;refseq.end=62776414;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_017879;refseq.name2=ZNF416;refseq.positionType=CDS;refseq.proteinCoordStr=p.S224P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=468;refseq.start=62776414;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 62809035 . T A 237.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.77;MQ0=0;OQ=10833.34;QD=41.51;RankSumP=1.00000;SB=-5010.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.330T>A;refseq.codonCoord=110;refseq.end=62809035;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=550;refseq.name=NM_020880;refseq.name2=ZNF530;refseq.positionType=CDS;refseq.proteinCoordStr=p.H110Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=170;refseq.start=62809035;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 62890150 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.647C>A;refseq.codonCoord=216;refseq.end=62890150;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=870;refseq.name=NM_138347;refseq.name2=ZNF551;refseq.positionType=CDS;refseq.proteinCoordStr=p.S216*;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=490;refseq.start=62890150;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr19 62973032 . G C 12.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=90.99;MQ0=0;QD=2.06;SB=-10.00;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.10G>C;refseq.codonCoord=4;refseq.end=62973032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_017652;refseq.name2=ZNF586;refseq.positionType=CDS;refseq.proteinCoordStr=p.A4P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-27;refseq.start=62973032;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:5,1:1:-4.49,-0.30,-0.00:1.76 chr19 63062750 . G A 86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.442697;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1158G>A;refseq.codonCoord=386;refseq.end=63062750;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1296;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.G386G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=995;refseq.start=63062750;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=soap GT 1/0 chr19 63062783 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.509702;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1191C>A;refseq.codonCoord=397;refseq.end=63062783;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1329;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.H397Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1028;refseq.start=63062783;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chr19 63062948 . G C 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.400198;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1356G>C;refseq.codonCoord=452;refseq.end=63062948;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1494;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.L452L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1193;refseq.start=63062948;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr19 63063071 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=537;Dels=0.00;HRun=0;HaplotypeScore=12.36;MQ=58.62;MQ0=33;OQ=958.83;QD=1.79;RankSumP=0.376956;SB=-56.18;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1479A>G;refseq.codonCoord=493;refseq.end=63063071;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1617;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.E493E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1316;refseq.start=63063071;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr19 63063086 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=9.09;MQ=47.64;MQ0=108;OQ=936.99;QD=1.72;RankSumP=0.0705063;SB=-112.36;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1494G>T;refseq.codonCoord=498;refseq.end=63063086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1632;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.G498G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1331;refseq.start=63063086;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr19 63063180 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.262870;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1588T>G;refseq.codonCoord=530;refseq.end=63063180;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1726;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.S530A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=1425;refseq.start=63063180;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chr19 63063242 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.241404;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1650C>T;refseq.codonCoord=550;refseq.end=63063242;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1788;refseq.name=NM_032828;refseq.name2=ZNF587;refseq.positionType=CDS;refseq.proteinCoordStr=p.C550C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=1487;refseq.start=63063242;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=soap GT 0/1 chr19 63111808 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.180218;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1650T>C;refseq.codonCoord=550;refseq.end=63111808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1849;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.C550C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1487;refseq.start=63111808;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 0/1 chr19 63111870 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.674779;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1588G>T;refseq.codonCoord=530;refseq.end=63111870;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1787;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.A530S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1425;refseq.start=63111870;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap GT 1/0 chr19 63111964 . C A 10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=52.37;MQ0=80;OQ=1172.60;QD=4.06;RankSumP=0.390245;SB=-452.37;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1494G>T;refseq.codonCoord=498;refseq.end=63111964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1693;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.G498G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=1331;refseq.start=63111964;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=filterInsoap-gatk GT 1/0 chr19 63111974 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=62.00;MQ0=59;OQ=2132.44;QD=6.90;RankSumP=0.345818;SB=-886.11;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.1484A>G;refseq.codonCoord=495;refseq.end=63111974;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1683;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.N495S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=1321;refseq.start=63111974;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr19 63111979 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=62.40;MQ0=58;OQ=2374.90;QD=7.35;RankSumP=0.224873;SB=-1009.94;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1479A>G;refseq.codonCoord=493;refseq.end=63111979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1678;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.E493E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=1316;refseq.start=63111979;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr19 63112102 . G C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.420718;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1356C>G;refseq.codonCoord=452;refseq.end=63112102;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.L452L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=1193;refseq.start=63112102;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 0/1 chr19 63112511 . C A 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=561;Dels=0.00;HRun=1;HaplotypeScore=8.96;MQ=27.30;MQ0=108;OQ=5523.85;QD=9.85;RankSumP=0.433214;SB=-1500.70;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.947G>T;refseq.codonCoord=316;refseq.end=63112511;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1146;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.R316L;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=784;refseq.start=63112511;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr19 63112940 . C T 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=773;Dels=0.00;HRun=0;HaplotypeScore=10.00;MQ=14.51;MQ0=551;OQ=2841.75;QD=3.68;RankSumP=0.650000;SB=-891.81;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.518G>A;refseq.codonCoord=173;refseq.end=63112940;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_152475;refseq.name2=ZNF417;refseq.positionType=CDS;refseq.proteinCoordStr=p.R173H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=355;refseq.start=63112940;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr19 63145154 . T C 278.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=423;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.98;MQ0=0;OQ=9195.58;QD=21.74;RankSumP=0.327680;SB=-2850.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.834A>G;refseq.codonCoord=278;refseq.end=63145154;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_005773;refseq.name2=ZNF256;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q278Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=674;refseq.start=63145154;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr19 63147193 . C T 102.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=359;Dels=0.00;HRun=1;HaplotypeScore=10.10;MQ=98.76;MQ0=0;OQ=14473.12;QD=40.32;RankSumP=1.00000;SB=-7113.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.81G>A;refseq.codonCoord=27;refseq.end=63147193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_005773;refseq.name2=ZNF256;refseq.positionType=CDS;refseq.proteinCoordStr=p.E27E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=48;refseq.start=63147193;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr19 63183439 . T C 137.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=483;Dels=0.00;HRun=1;HaplotypeScore=8.03;MQ=98.74;MQ0=0;OQ=9366.95;QD=19.39;RankSumP=0.272428;SB=-2910.94;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.421A>G;refseq.codonCoord=141;refseq.end=63183439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_025027;refseq.name2=ZNF606;refseq.positionType=CDS;refseq.proteinCoordStr=p.S141G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=21;refseq.start=63183439;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr19 63241178 . C G 53.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=10.70;MQ=96.54;MQ0=0;OQ=2667.41;QD=26.15;RankSumP=1.00000;SB=-1144.08;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.162C>G;refseq.codonCoord=54;refseq.end=63241178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_182572;refseq.name2=ZSCAN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L54L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-209;refseq.start=63241178;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr19 63264791 . G A 272.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=7.61;MQ=98.64;MQ0=0;OQ=8897.88;QD=38.86;RankSumP=1.00000;SB=-2479.84;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.chr_5=chr19;refseq.codingCoordStr_1=c.101G>A;refseq.codingCoordStr_2=c.101G>A;refseq.codingCoordStr_3=c.101G>A;refseq.codingCoordStr_4=c.65G>A;refseq.codingCoordStr_5=c.101G>A;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.codonCoord_3=34;refseq.codonCoord_4=22;refseq.codonCoord_5=34;refseq.end_1=63264791;refseq.end_2=63264791;refseq.end_3=63264791;refseq.end_4=63264791;refseq.end_5=63264791;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=104;refseq.mrnaCoord_2=104;refseq.mrnaCoord_3=104;refseq.mrnaCoord_4=166;refseq.mrnaCoord_5=104;refseq.name2_1=ZNF135;refseq.name2_2=ZNF135;refseq.name2_3=ZNF135;refseq.name2_4=ZNF135;refseq.name2_5=ZNF135;refseq.name_1=NM_001164527;refseq.name_2=NM_001164529;refseq.name_3=NM_001164530;refseq.name_4=NM_003436;refseq.name_5=NM_007134;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.G34D;refseq.proteinCoordStr_2=p.G34D;refseq.proteinCoordStr_3=p.G34D;refseq.proteinCoordStr_4=p.G22D;refseq.proteinCoordStr_5=p.G34D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.referenceCodon_5=GGC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.spliceDist_4=32;refseq.spliceDist_5=32;refseq.start_1=63264791;refseq.start_2=63264791;refseq.start_3=63264791;refseq.start_4=63264791;refseq.start_5=63264791;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantAA_5=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;refseq.variantCodon_5=GAC;set=Intersection GT 1/1 chr19 63270390 . C T 453.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=98.78;MQ0=0;OQ=7308.52;QD=41.76;RankSumP=1.00000;SB=-2461.67;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.*55C>T;refseq.codingCoordStr_2=c.762C>T;refseq.codingCoordStr_3=c.762C>T;refseq.codingCoordStr_4=c.798C>T;refseq.codonCoord_2=254;refseq.codonCoord_3=254;refseq.codonCoord_4=266;refseq.end_1=63270390;refseq.end_2=63270390;refseq.end_3=63270390;refseq.end_4=63270390;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=765;refseq.mrnaCoord_3=863;refseq.mrnaCoord_4=801;refseq.name2_1=ZNF135;refseq.name2_2=ZNF135;refseq.name2_3=ZNF135;refseq.name2_4=ZNF135;refseq.name_1=NM_001164529;refseq.name_2=NM_001164530;refseq.name_3=NM_003436;refseq.name_4=NM_007134;refseq.numMatchingRecords=4;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.Y254Y;refseq.proteinCoordStr_3=p.Y254Y;refseq.proteinCoordStr_4=p.Y266Y;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.referenceCodon_4=TAC;refseq.spliceDist_1=111;refseq.spliceDist_2=-358;refseq.spliceDist_3=506;refseq.spliceDist_4=506;refseq.start_1=63270390;refseq.start_2=63270390;refseq.start_3=63270390;refseq.start_4=63270390;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;set=Intersection GT 1/1 chr19 63288261 . C T 130.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=97.85;MQ0=0;OQ=1366.81;QD=14.70;RankSumP=0.169158;SB=-614.40;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.1304G>A;refseq.codingCoordStr_2=c.1136G>A;refseq.codingCoordStr_3=c.728G>A;refseq.codingCoordStr_4=c.1136G>A;refseq.codonCoord_1=435;refseq.codonCoord_2=379;refseq.codonCoord_3=243;refseq.codonCoord_4=379;refseq.end_1=63288261;refseq.end_2=63288261;refseq.end_3=63288261;refseq.end_4=63288261;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1334;refseq.mrnaCoord_2=1445;refseq.mrnaCoord_3=979;refseq.mrnaCoord_4=1689;refseq.name2_1=ZSCAN18;refseq.name2_2=ZSCAN18;refseq.name2_3=ZSCAN18;refseq.name2_4=ZSCAN18;refseq.name_1=NM_001145542;refseq.name_2=NM_001145543;refseq.name_3=NM_001145544;refseq.name_4=NM_023926;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G435E;refseq.proteinCoordStr_2=p.G379E;refseq.proteinCoordStr_3=p.G243E;refseq.proteinCoordStr_4=p.G379E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.spliceDist_1=298;refseq.spliceDist_2=298;refseq.spliceDist_3=295;refseq.spliceDist_4=298;refseq.start_1=63288261;refseq.start_2=63288261;refseq.start_3=63288261;refseq.start_4=63288261;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 0/1 chr19 63291917 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.500024;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.671G>C;refseq.codingCoordStr_2=c.503G>C;refseq.codingCoordStr_3=c.98G>C;refseq.codingCoordStr_4=c.503G>C;refseq.codonCoord_1=224;refseq.codonCoord_2=168;refseq.codonCoord_3=33;refseq.codonCoord_4=168;refseq.end_1=63291917;refseq.end_2=63291917;refseq.end_3=63291917;refseq.end_4=63291917;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=701;refseq.mrnaCoord_2=812;refseq.mrnaCoord_3=349;refseq.mrnaCoord_4=1056;refseq.name2_1=ZSCAN18;refseq.name2_2=ZSCAN18;refseq.name2_3=ZSCAN18;refseq.name2_4=ZSCAN18;refseq.name_1=NM_001145542;refseq.name_2=NM_001145543;refseq.name_3=NM_001145544;refseq.name_4=NM_023926;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S224T;refseq.proteinCoordStr_2=p.S168T;refseq.proteinCoordStr_3=p.S33T;refseq.proteinCoordStr_4=p.S168T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.spliceDist_4=-51;refseq.start_1=63291917;refseq.start_2=63291917;refseq.start_3=63291917;refseq.start_4=63291917;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=soap GT 1/0 chr19 63291918 . T G 29 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=1.83359e-08;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.chr_4=chr19;refseq.codingCoordStr_1=c.670A>C;refseq.codingCoordStr_2=c.502A>C;refseq.codingCoordStr_3=c.97A>C;refseq.codingCoordStr_4=c.502A>C;refseq.codonCoord_1=224;refseq.codonCoord_2=168;refseq.codonCoord_3=33;refseq.codonCoord_4=168;refseq.end_1=63291918;refseq.end_2=63291918;refseq.end_3=63291918;refseq.end_4=63291918;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=700;refseq.mrnaCoord_2=811;refseq.mrnaCoord_3=348;refseq.mrnaCoord_4=1055;refseq.name2_1=ZSCAN18;refseq.name2_2=ZSCAN18;refseq.name2_3=ZSCAN18;refseq.name2_4=ZSCAN18;refseq.name_1=NM_001145542;refseq.name_2=NM_001145543;refseq.name_3=NM_001145544;refseq.name_4=NM_023926;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S224R;refseq.proteinCoordStr_2=p.S168R;refseq.proteinCoordStr_3=p.S33R;refseq.proteinCoordStr_4=p.S168R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.spliceDist_4=-52;refseq.start_1=63291918;refseq.start_2=63291918;refseq.start_3=63291918;refseq.start_4=63291918;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=FilteredInAll GT 1/0 chr19 63331156 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1527T>C;refseq.codonCoord=509;refseq.end=63331156;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1764;refseq.name=NM_024620;refseq.name2=ZNF329;refseq.positionType=CDS;refseq.proteinCoordStr=p.G509G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=1535;refseq.start=63331156;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr19 63465883 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=97.97;MQ0=0;OQ=1121.25;QD=12.19;RankSumP=0.176497;SB=-476.93;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2099A>G;refseq.codonCoord=700;refseq.end=63465883;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2573;refseq.name=NM_014480;refseq.name2=ZNF544;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q700R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-938;refseq.start=63465883;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 0/1 chr19 63497895 . T C 157.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.94;MQ0=0;OQ=2996.97;QD=12.81;RankSumP=0.185155;SB=-1081.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.909T>C;refseq.codonCoord=303;refseq.end=63497895;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_021089;refseq.name2=ZNF8;refseq.positionType=CDS;refseq.proteinCoordStr=p.H303H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=620;refseq.start=63497895;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr19 63542327 . G A 46.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=376;Dels=0.00;HRun=2;HaplotypeScore=38.83;MQ=98.24;MQ0=0;QD=0.12;RankSumP=0.00000;SB=592.01;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1299G>A;refseq.codonCoord=433;refseq.end=63542327;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_181846;refseq.name2=ZSCAN22;refseq.positionType=CDS;refseq.proteinCoordStr=p.E433E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=896;refseq.start=63542327;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr19 63554647 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.832A>C;refseq.codonCoord=278;refseq.end=63554647;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=894;refseq.name=NM_130786;refseq.name2=A1BG;refseq.positionType=CDS;refseq.proteinCoordStr=p.T278P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-79;refseq.start=63554647;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr19 63556291 . T C 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=25.33;MQ=98.36;MQ0=0;OQ=12876.56;QD=36.58;RankSumP=1.00000;SB=-4788.36;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.155A>G;refseq.codonCoord_2=52;refseq.end_1=63556546;refseq.end_2=63556291;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=217;refseq.name2_1=NCRNA00181;refseq.name2_2=A1BG;refseq.name_1=NR_015380;refseq.name_2=NM_130786;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H52R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=85;refseq.start_1=63556233;refseq.start_2=63556291;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr19 63556326 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.codingCoordStr_2=c.120A>C;refseq.codonCoord_2=40;refseq.end_1=63556546;refseq.end_2=63556326;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=182;refseq.name2_1=NCRNA00181;refseq.name2_2=A1BG;refseq.name_1=NR_015380;refseq.name_2=NM_130786;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K40N;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_2=50;refseq.start_1=63556233;refseq.start_2=63556326;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr19 63560292 . G T 116.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.90;MQ0=0;OQ=2052.38;QD=35.39;RankSumP=1.00000;SB=-890.90;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.522C>A;refseq.codonCoord=174;refseq.end=63560292;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_198458;refseq.name2=ZNF497;refseq.positionType=CDS;refseq.proteinCoordStr=p.H174Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=536;refseq.start=63560292;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/1 chr19 63620111 . A T 7023.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=98.21;MQ0=0;QD=16.96;RankSumP=0.244651;SB=-2894.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.414A>T;refseq.codonCoord=138;refseq.end=63620111;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_173548;refseq.name2=ZNF584;refseq.positionType=CDS;refseq.proteinCoordStr=p.A138A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=122;refseq.start=63620111;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap-filterIngatk GT 0/1 chr19 63620114 . T C 7319.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=414;Dels=0.00;HRun=1;HaplotypeScore=5.30;MQ=98.21;MQ0=0;QD=17.68;RankSumP=0.0901266;SB=-2897.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.417T>C;refseq.codonCoord=139;refseq.end=63620114;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_173548;refseq.name2=ZNF584;refseq.positionType=CDS;refseq.proteinCoordStr=p.A139A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=125;refseq.start=63620114;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/0 chr19 63620121 . C T 7128.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=6.62;MQ=98.30;MQ0=0;QD=17.82;RankSumP=0.0147071;SB=-2602.41;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.424C>T;refseq.codonCoord=142;refseq.end=63620121;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=876;refseq.name=NM_173548;refseq.name2=ZNF584;refseq.positionType=CDS;refseq.proteinCoordStr=p.P142S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=132;refseq.start=63620121;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 0/1 chr19 63620864 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=263;Dels=0.00;HRun=2;HaplotypeScore=13.56;MQ=98.83;MQ0=0;OQ=5155.74;QD=19.60;RankSumP=0.0669151;SB=-1771.62;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1167G>A;refseq.codonCoord=389;refseq.end=63620864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1619;refseq.name=NM_173548;refseq.name2=ZNF584;refseq.positionType=CDS;refseq.proteinCoordStr=p.K389K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-641;refseq.start=63620864;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr19 63620948 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=534;Dels=0.00;HRun=2;HaplotypeScore=10.14;MQ=98.43;MQ0=0;OQ=10855.94;QD=20.33;RankSumP=0.0595726;SB=-4496.33;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1251G>A;refseq.codonCoord=417;refseq.end=63620948;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1703;refseq.name=NM_173548;refseq.name2=ZNF584;refseq.positionType=CDS;refseq.proteinCoordStr=p.K417K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-557;refseq.start=63620948;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr19 63636553 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.2070A>C;refseq.codonCoord=690;refseq.end=63636553;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2471;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.K690N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-561;refseq.start=63636553;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr19 63636901 . A G 207.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=314;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=98.82;MQ0=0;OQ=5141.42;QD=16.37;RankSumP=0.458313;SB=-2091.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.1722T>C;refseq.codonCoord=574;refseq.end=63636901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2123;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.N574N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-909;refseq.start=63636901;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr19 63637774 . C T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=8322.27;QD=41.20;RankSumP=1.00000;SB=-4043.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.849G>A;refseq.codonCoord=283;refseq.end=63637774;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1250;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.K283K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=617;refseq.start=63637774;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr19 63637868 . G A 183.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=98.72;MQ0=0;OQ=10324.70;QD=22.49;RankSumP=0.181590;SB=-4242.04;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.755C>T;refseq.codonCoord=252;refseq.end=63637868;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1156;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.P252L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=523;refseq.start=63637868;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr19 63637972 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.651G>A;refseq.codonCoord=217;refseq.end=63637972;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q217Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=419;refseq.start=63637972;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 0/1 chr19 63638015 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=27.46;MQ=98.37;MQ0=0;OQ=4012.99;QD=15.61;RankSumP=0.298443;SB=-922.40;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.608G>A;refseq.codonCoord=203;refseq.end=63638015;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.G203D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=376;refseq.start=63638015;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr19 63642953 . C G 17.50 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=97.63;MQ0=0;QD=1.25;SB=-32.84;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.48G>C;refseq.codonCoord=16;refseq.end=63642953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=449;refseq.name=NM_003433;refseq.name2=ZNF132;refseq.positionType=CDS;refseq.proteinCoordStr=p.L16L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-16;refseq.start=63642953;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:12,2:13:-8.94,-3.92,-51.35:50.26 chr19 63674196 . A G 169.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.64;MQ0=0;OQ=1211.26;QD=40.38;RankSumP=1.00000;SB=-567.50;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.525A>G;refseq.codonCoord=175;refseq.end=63674196;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_014347;refseq.name2=ZNF324;refseq.positionType=CDS;refseq.proteinCoordStr=p.R175R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=287;refseq.start=63674196;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr19 63681307 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.41;MQ0=0;OQ=2154.14;QD=11.84;RankSumP=0.0399197;SB=-745.48;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.574A>C;refseq.codonCoord=192;refseq.end=63681307;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_017908;refseq.name2=ZNF446;refseq.positionType=CDS;refseq.proteinCoordStr=p.N192H;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=42;refseq.start=63681307;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr19 63714978 . G A 29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=63.99;QD=10.66;RankSumP=0.350000;SB=-37.53;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.157C>T;refseq.codonCoord=53;refseq.end=63714978;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_012254;refseq.name2=SLC27A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R53W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=267;refseq.start=63714978;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr19 63714986 . A G 28.93 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.64;MQ0=0;QD=3.21;RankSumP=0.0833333;SB=-3.98;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.149T>C;refseq.codonCoord=50;refseq.end=63714986;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_012254;refseq.name2=SLC27A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M50T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=259;refseq.start=63714986;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT 0/1 chr19 63720397 . G A 85.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=96.94;MQ0=0;OQ=243.70;QD=17.41;RankSumP=0.500000;SB=-88.32;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr19;refseq.codingCoordStr=c.456C>T;refseq.codonCoord=152;refseq.end=63720397;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=748;refseq.name=NM_032792;refseq.name2=ZBTB45;refseq.positionType=CDS;refseq.proteinCoordStr=p.R152R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=456;refseq.start=63720397;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr19 63750650 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr19;refseq.codingCoordStr=c.682A>C;refseq.codonCoord=228;refseq.end=63750650;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_005762;refseq.name2=TRIM28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T228P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-41;refseq.start=63750650;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr19 63766465 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=98.56;MQ0=0;OQ=271.51;QD=11.31;RankSumP=0.458504;SB=-132.64;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr19;refseq.chr_2=chr19;refseq.chr_3=chr19;refseq.codingCoordStr_2=c.991A>G;refseq.codingCoordStr_3=c.991A>G;refseq.codonCoord_2=331;refseq.codonCoord_3=331;refseq.end_1=63772081;refseq.end_2=63766465;refseq.end_3=63766465;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1234;refseq.mrnaCoord_3=1552;refseq.name2_1=LOC100131691;refseq.name2_2=MZF1;refseq.name2_3=MZF1;refseq.name_1=NR_027334;refseq.name_2=NM_003422;refseq.name_3=NM_198055;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I331V;refseq.proteinCoordStr_3=p.I331V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_2=219;refseq.spliceDist_3=219;refseq.start_1=63762599;refseq.start_2=63766465;refseq.start_3=63766465;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr20 24771 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=682;Dels=0.00;HRun=0;HaplotypeScore=18.66;MQ=98.79;MQ0=0;OQ=13088.04;QD=19.19;RankSumP=0.196650;SB=-4539.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.184C>T;refseq.codonCoord=62;refseq.end=24771;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_153325;refseq.name2=DEFB125;refseq.positionType=CDS;refseq.proteinCoordStr=p.H62Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=126;refseq.start=24771;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr20 24962 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=962;Dels=0.00;HRun=1;HaplotypeScore=21.50;MQ=98.85;MQ0=0;OQ=35799.53;QD=37.21;RankSumP=1.00000;SB=-12183.86;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.375T>C;refseq.codonCoord=125;refseq.end=24962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=375;refseq.name=NM_153325;refseq.name2=DEFB125;refseq.positionType=CDS;refseq.proteinCoordStr=p.S125S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=317;refseq.start=24962;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr20 116728 . T A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=740;Dels=0.00;HRun=0;HaplotypeScore=7.72;MQ=98.88;MQ0=0;OQ=29224.08;QD=39.49;RankSumP=1.00000;SB=-11288.95;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.81A>T;refseq.codonCoord=27;refseq.end=116728;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=81;refseq.name=NM_001037732;refseq.name2=DEFB128;refseq.positionType=CDS;refseq.proteinCoordStr=p.K27N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=32;refseq.start=116728;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr20 207818 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=8.44;MQ=98.83;MQ0=0;OQ=1608.67;QD=16.58;RankSumP=0.198236;SB=-230.23;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.460C>T;refseq.codonCoord=154;refseq.end=207818;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_153269;refseq.name2=C20orf96;refseq.positionType=CDS;refseq.proteinCoordStr=p.L154L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=207818;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr20 227185 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=99.24;MQ0=0;OQ=757.78;QD=17.22;RankSumP=0.639686;SB=-3.98;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.958C>T;refseq.codonCoord=320;refseq.end=227185;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=982;refseq.name=NM_033089;refseq.name2=ZCCHC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L320L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=982;refseq.start=227185;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr20 254733 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=122;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=97.65;MQ0=0;OQ=1809.85;QD=14.83;RankSumP=0.237506;SB=-533.99;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.165G>A;refseq.codonCoord=55;refseq.end=254733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_006943;refseq.name2=SOX12;refseq.positionType=CDS;refseq.proteinCoordStr=p.R55R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=495;refseq.start=254733;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr20 319972 . T C 238.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.17;MQ0=0;OQ=993.88;QD=16.85;RankSumP=0.612167;SB=-521.09;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.333T>C;refseq.codonCoord=111;refseq.end=319972;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_021158;refseq.name2=TRIB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y111Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=42;refseq.start=319972;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr20 325226 . C T 256.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=98.75;MQ0=0;OQ=1820.25;QD=16.25;RankSumP=0.0130623;SB=-560.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.969C>T;refseq.codonCoord=323;refseq.end=325226;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1475;refseq.name=NM_021158;refseq.name2=TRIB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A323A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=385;refseq.start=325226;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr20 416186 . G A 119.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=16.94;MQ=85.05;MQ0=62;OQ=5414.77;QD=15.56;RankSumP=0.382602;SB=-2163.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.858C>T;refseq.codingCoordStr_2=c.858C>T;refseq.codingCoordStr_3=c.450C>T;refseq.codonCoord_1=286;refseq.codonCoord_2=286;refseq.codonCoord_3=150;refseq.end_1=416186;refseq.end_2=416186;refseq.end_3=416186;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1134;refseq.mrnaCoord_2=1251;refseq.mrnaCoord_3=924;refseq.name2_1=CSNK2A1;refseq.name2_2=CSNK2A1;refseq.name2_3=CSNK2A1;refseq.name_1=NM_001895;refseq.name_2=NM_177559;refseq.name_3=NM_177560;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H286H;refseq.proteinCoordStr_2=p.H286H;refseq.proteinCoordStr_3=p.H150H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=416186;refseq.start_2=416186;refseq.start_3=416186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=Intersection GT 1/0 chr20 538542 . C G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=3.25;MQ=97.93;MQ0=0;OQ=3578.82;QD=43.64;RankSumP=1.00000;SB=-1653.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.340G>C;refseq.codonCoord=114;refseq.end=538542;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=369;refseq.name=NM_004609;refseq.name2=TCF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.V114L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-186;refseq.start=538542;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr20 538543 . G C 202.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=97.93;MQ0=0;OQ=3049.93;QD=37.19;RankSumP=1.00000;SB=-1287.09;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.339C>G;refseq.codonCoord=113;refseq.end=538543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=368;refseq.name=NM_004609;refseq.name2=TCF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T113T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-187;refseq.start=538543;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr20 538655 . G C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.266667;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.227C>G;refseq.codonCoord=76;refseq.end=538655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_004609;refseq.name2=TCF15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A76G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=256;refseq.start=538655;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 692450 . G A 253.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.86;MQ0=0;OQ=3091.91;QD=35.95;RankSumP=1.00000;SB=-1030.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.765C>T;refseq.codonCoord=255;refseq.end=692450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1104;refseq.name=NM_033409;refseq.name2=C20orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.L255L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=198;refseq.start=692450;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/1 chr20 694098 . G A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=98.85;MQ0=0;OQ=275.00;QD=13.75;RankSumP=0.252681;SB=-111.57;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.321C>T;refseq.codonCoord=107;refseq.end=694098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_033409;refseq.name2=C20orf54;refseq.positionType=CDS;refseq.proteinCoordStr=p.A107A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-247;refseq.start=694098;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 773678 . T C 80.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=95.11;MQ0=0;OQ=560.50;QD=31.14;RankSumP=1.00000;SB=-188.85;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.231T>C;refseq.codingCoordStr_2=c.231T>C;refseq.codingCoordStr_3=c.231T>C;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.codonCoord_3=77;refseq.end_1=773678;refseq.end_2=773678;refseq.end_3=773678;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=567;refseq.mrnaCoord_2=394;refseq.mrnaCoord_3=375;refseq.name2_1=FAM110A;refseq.name2_2=FAM110A;refseq.name2_3=FAM110A;refseq.name_1=NM_001042353;refseq.name_2=NM_031424;refseq.name_3=NM_207121;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F77F;refseq.proteinCoordStr_2=p.F77F;refseq.proteinCoordStr_3=p.F77F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=328;refseq.spliceDist_2=394;refseq.spliceDist_3=328;refseq.start_1=773678;refseq.start_2=773678;refseq.start_3=773678;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chr20 773873 . G A 27.33 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.55;RankSumP=0.595238;SB=-37.65;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.426G>A;refseq.codingCoordStr_2=c.426G>A;refseq.codingCoordStr_3=c.426G>A;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.codonCoord_3=142;refseq.end_1=773873;refseq.end_2=773873;refseq.end_3=773873;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=589;refseq.mrnaCoord_3=570;refseq.name2_1=FAM110A;refseq.name2_2=FAM110A;refseq.name2_3=FAM110A;refseq.name_1=NM_001042353;refseq.name_2=NM_031424;refseq.name_3=NM_207121;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P142P;refseq.proteinCoordStr_2=p.P142P;refseq.proteinCoordStr_3=p.P142P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.spliceDist_1=523;refseq.spliceDist_2=589;refseq.spliceDist_3=523;refseq.start_1=773873;refseq.start_2=773873;refseq.start_3=773873;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=FilteredInAll GT 1/0 chr20 802940 . T C 144.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=98.75;MQ0=0;OQ=1821.53;QD=14.93;RankSumP=0.102197;SB=-743.17;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1338A>G;refseq.codonCoord=446;refseq.end=802940;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1441;refseq.name=NM_015985;refseq.name2=ANGPT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q446Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-14;refseq.start=802940;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr20 809913 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.852T>G;refseq.codonCoord=284;refseq.end=809913;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_015985;refseq.name2=ANGPT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G284G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=17;refseq.start=809913;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 1047523 . T G 255.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=7.68;MQ=98.14;MQ0=0;OQ=8635.23;QD=35.10;RankSumP=1.00000;SB=-3803.52;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.107T>G;refseq.codingCoordStr_2=c.107T>G;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.end_1=1047523;refseq.end_2=1047523;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=275;refseq.name2_1=PSMF1;refseq.name2_2=PSMF1;refseq.name_1=NM_006814;refseq.name_2=NM_178578;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F36C;refseq.proteinCoordStr_2=p.F36C;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=1047523;refseq.start_2=1047523;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr20 1056122 . C T 103.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=445;Dels=0.00;HRun=1;HaplotypeScore=10.73;MQ=98.77;MQ0=0;OQ=8923.99;QD=20.05;RankSumP=0.00293967;SB=-2986.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.336C>T;refseq.codingCoordStr_2=c.336C>T;refseq.codonCoord_1=112;refseq.codonCoord_2=112;refseq.end_1=1056122;refseq.end_2=1056122;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=513;refseq.mrnaCoord_2=504;refseq.name2_1=PSMF1;refseq.name2_2=PSMF1;refseq.name_1=NM_006814;refseq.name_2=NM_178578;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I112I;refseq.proteinCoordStr_2=p.I112I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=1056122;refseq.start_2=1056122;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=filterInsoap-gatk GT 0/1 chr20 1233933 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=10.04;MQ=96.65;MQ0=0;OQ=498.45;QD=10.17;RankSumP=0.0925447;SB=-159.15;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.720G>A;refseq.codonCoord=240;refseq.end=1233933;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=956;refseq.name=NM_014723;refseq.name2=SNPH;refseq.positionType=CDS;refseq.proteinCoordStr=p.G240G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=412;refseq.start=1233933;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr20 1241008 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=578.50;QD=25.15;RankSumP=0.645131;SB=-230.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.450G>A;refseq.codingCoordStr_2=c.705G>A;refseq.codonCoord_1=150;refseq.codonCoord_2=235;refseq.end_1=1241008;refseq.end_2=1241008;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=641;refseq.mrnaCoord_2=834;refseq.name2_1=SDCBP2;refseq.name2_2=SDCBP2;refseq.name_1=NM_015685;refseq.name_2=NM_080489;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V150V;refseq.proteinCoordStr_2=p.V235V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=1241008;refseq.start_2=1241008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr20 1241107 . G A 215.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=98.70;MQ0=0;OQ=2799.33;QD=16.47;RankSumP=0.0992335;SB=-1100.11;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.351C>T;refseq.codingCoordStr_2=c.606C>T;refseq.codonCoord_1=117;refseq.codonCoord_2=202;refseq.end_1=1241107;refseq.end_2=1241107;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=542;refseq.mrnaCoord_2=735;refseq.name2_1=SDCBP2;refseq.name2_2=SDCBP2;refseq.name_1=NM_015685;refseq.name_2=NM_080489;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H117H;refseq.proteinCoordStr_2=p.H202H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=1241107;refseq.start_2=1241107;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr20 1241247 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=25.57;MQ=97.25;MQ0=0;OQ=2510.89;QD=11.84;RankSumP=0.0991634;SB=-988.37;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.289G>A;refseq.codingCoordStr_2=c.544G>A;refseq.codonCoord_1=97;refseq.codonCoord_2=182;refseq.end_1=1241247;refseq.end_2=1241247;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=480;refseq.mrnaCoord_2=673;refseq.name2_1=SDCBP2;refseq.name2_2=SDCBP2;refseq.name_1=NM_015685;refseq.name_2=NM_080489;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V97M;refseq.proteinCoordStr_2=p.V182M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=1241247;refseq.start_2=1241247;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr20 1374320 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.941A>C;refseq.codingCoordStr_2=c.848A>C;refseq.codingCoordStr_3=c.608A>C;refseq.codonCoord_1=314;refseq.codonCoord_2=283;refseq.codonCoord_3=203;refseq.end_1=1374320;refseq.end_2=1374320;refseq.end_3=1374320;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1889;refseq.mrnaCoord_2=1796;refseq.mrnaCoord_3=1696;refseq.name2_1=NSFL1C;refseq.name2_2=NSFL1C;refseq.name2_3=NSFL1C;refseq.name_1=NM_016143;refseq.name_2=NM_018839;refseq.name_3=NM_182483;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.H314P;refseq.proteinCoordStr_2=p.H283P;refseq.proteinCoordStr_3=p.H203P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=1374320;refseq.start_2=1374320;refseq.start_3=1374320;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr20 1374393 . C T 185.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=317;Dels=0.00;HRun=1;HaplotypeScore=7.79;MQ=94.38;MQ0=0;OQ=5162.53;QD=16.29;RankSumP=0.0753278;SB=-974.86;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.868G>A;refseq.codingCoordStr_2=c.775G>A;refseq.codingCoordStr_3=c.535G>A;refseq.codonCoord_1=290;refseq.codonCoord_2=259;refseq.codonCoord_3=179;refseq.end_1=1374393;refseq.end_2=1374393;refseq.end_3=1374393;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1816;refseq.mrnaCoord_2=1723;refseq.mrnaCoord_3=1623;refseq.name2_1=NSFL1C;refseq.name2_2=NSFL1C;refseq.name2_3=NSFL1C;refseq.name_1=NM_016143;refseq.name_2=NM_018839;refseq.name_3=NM_182483;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D290N;refseq.proteinCoordStr_2=p.D259N;refseq.proteinCoordStr_3=p.D179N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.spliceDist_3=83;refseq.start_1=1374393;refseq.start_2=1374393;refseq.start_3=1374393;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 0/1 chr20 1407060 . T G 444.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=98.93;MQ0=0;OQ=5951.58;QD=38.90;RankSumP=1.00000;SB=-1349.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.644A>C;refseq.codingCoordStr_2=c.350A>C;refseq.codonCoord_1=215;refseq.codonCoord_2=117;refseq.end_1=1407060;refseq.end_2=1407060;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=872;refseq.mrnaCoord_2=578;refseq.name2_1=SIRPB2;refseq.name2_2=SIRPB2;refseq.name_1=NM_001122962;refseq.name_2=NM_001134836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E215A;refseq.proteinCoordStr_2=p.E117A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-150;refseq.spliceDist_2=-150;refseq.start_1=1407060;refseq.start_2=1407060;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr20 1408674 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.122T>G;refseq.codingCoordStr_2=c.122T>G;refseq.codonCoord_1=41;refseq.codonCoord_2=41;refseq.end_1=1408674;refseq.end_2=1408674;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=350;refseq.mrnaCoord_2=350;refseq.name2_1=SIRPB2;refseq.name2_2=SIRPB2;refseq.name_1=NM_001122962;refseq.name_2=NM_001134836;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V41G;refseq.proteinCoordStr_2=p.V41G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=37;refseq.spliceDist_2=-36;refseq.start_1=1408674;refseq.start_2=1408674;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr20 1480595 . T C 308.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=98.84;MQ0=0;OQ=13854.00;QD=38.70;RankSumP=1.00000;SB=-5007.48;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.163A>G;refseq.codonCoord=55;refseq.end=1480595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=207;refseq.name=NM_178460;refseq.name2=SIRPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.N55D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=90;refseq.start=1480595;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr20 1486266 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=507;Dels=0.00;HRun=1;HaplotypeScore=16.57;MQ=98.77;MQ0=0;OQ=10099.41;QD=19.92;RankSumP=1.32394e-05;SB=-3890.15;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.34C>T;refseq.codonCoord=12;refseq.end=1486266;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=78;refseq.name=NM_178460;refseq.name2=SIRPD;refseq.positionType=CDS;refseq.proteinCoordStr=p.L12L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-40;refseq.start=1486266;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=filterInsoap-gatk GT 1/0 chr20 1494911 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=5.10;MQ=98.54;MQ0=0;OQ=1007.76;QD=23.99;RankSumP=0.563110;SB=-236.55;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.436G>C;refseq.codingCoordStr_2=c.1087G>C;refseq.codonCoord_1=146;refseq.codonCoord_2=363;refseq.end_1=1494911;refseq.end_2=1494911;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=535;refseq.mrnaCoord_2=1186;refseq.name2_1=SIRPB1;refseq.name2_2=SIRPB1;refseq.name_1=NM_001083910;refseq.name_2=NM_006065;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A146P;refseq.proteinCoordStr_2=p.A363P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=1494911;refseq.start_2=1494911;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr20 1499485 . C T 155.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=2772.40;QD=19.52;RankSumP=0.229410;SB=-826.71;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1050G>A;refseq.codonCoord_2=350;refseq.end_1=1506973;refseq.end_2=1499485;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1149;refseq.name2_1=SIRPB1;refseq.name2_2=SIRPB1;refseq.name_1=NM_001083910;refseq.name_2=NM_006065;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A350A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-35;refseq.start_1=1494924;refseq.start_2=1499485;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr20 1500430 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=485;Dels=0.00;HRun=1;HaplotypeScore=13.53;MQ=88.59;MQ0=0;OQ=9518.22;QD=19.63;RankSumP=0.0357332;SB=-3669.96;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.687A>G;refseq.codonCoord_2=229;refseq.end_1=1506973;refseq.end_2=1500430;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=786;refseq.name2_1=SIRPB1;refseq.name2_2=SIRPB1;refseq.name_1=NM_001083910;refseq.name_2=NM_006065;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I229M;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_2=-65;refseq.start_1=1494924;refseq.start_2=1500430;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 1/0 chr20 1507330 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=511;Dels=0.00;HRun=2;HaplotypeScore=59.71;MQ=97.94;MQ0=0;OQ=125.16;QD=0.24;RankSumP=0.00000;SB=781.44;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.87T>G;refseq.codingCoordStr_2=c.87T>G;refseq.codonCoord_1=29;refseq.codonCoord_2=29;refseq.end_1=1507330;refseq.end_2=1507330;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=186;refseq.mrnaCoord_2=186;refseq.name2_1=SIRPB1;refseq.name2_2=SIRPB1;refseq.name_1=NM_001083910;refseq.name_2=NM_006065;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G29G;refseq.proteinCoordStr_2=p.G29G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=1507330;refseq.start_2=1507330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr20 1548524 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=98.72;MQ0=0;OQ=632.39;QD=18.60;RankSumP=0.395054;SB=-315.57;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.67A>G;refseq.codingCoordStr_2=c.67A>G;refseq.codingCoordStr_3=c.67A>G;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.codonCoord_3=23;refseq.end_1=1548524;refseq.end_2=1548524;refseq.end_3=1548524;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=166;refseq.mrnaCoord_2=166;refseq.mrnaCoord_3=166;refseq.name2_1=SIRPB1;refseq.name2_2=SIRPB1;refseq.name2_3=SIRPB1;refseq.name_1=NM_001083910;refseq.name_2=NM_001135844;refseq.name_3=NM_006065;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R23G;refseq.proteinCoordStr_2=p.R23G;refseq.proteinCoordStr_3=p.R23G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=1548524;refseq.start_2=1548524;refseq.start_3=1548524;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=Intersection GT 1/0 chr20 1558894 . G A 191.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=664.58;QD=17.96;RankSumP=0.601966;SB=-304.29;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.807C>T;refseq.codingCoordStr_2=c.1140C>T;refseq.codingCoordStr_3=c.489C>T;refseq.codonCoord_1=269;refseq.codonCoord_2=380;refseq.codonCoord_3=163;refseq.end_1=1558894;refseq.end_2=1558894;refseq.end_3=1558894;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=872;refseq.mrnaCoord_2=1205;refseq.mrnaCoord_3=554;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_018556;refseq.name_3=NM_080816;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y269Y;refseq.proteinCoordStr_2=p.Y380Y;refseq.proteinCoordStr_3=p.Y163Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=1558894;refseq.start_2=1558894;refseq.start_3=1558894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;set=Intersection GT 1/0 chr20 1558939 . G A 130.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=552.02;QD=15.33;RankSumP=0.532649;SB=-106.93;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.762C>T;refseq.codingCoordStr_2=c.1095C>T;refseq.codingCoordStr_3=c.444C>T;refseq.codonCoord_1=254;refseq.codonCoord_2=365;refseq.codonCoord_3=148;refseq.end_1=1558939;refseq.end_2=1558939;refseq.end_3=1558939;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=827;refseq.mrnaCoord_2=1160;refseq.mrnaCoord_3=509;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_018556;refseq.name_3=NM_080816;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S254S;refseq.proteinCoordStr_2=p.S365S;refseq.proteinCoordStr_3=p.S148S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.spliceDist_3=14;refseq.start_1=1558939;refseq.start_2=1558939;refseq.start_3=1558939;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/0 chr20 1563959 . T C 262.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=1;HaplotypeScore=4.53;MQ=98.68;MQ0=0;OQ=7410.28;QD=20.14;RankSumP=0.153531;SB=-2129.66;SecondBestBaseQ=32;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.1035A>G;refseq.codonCoord_3=345;refseq.end_1=1564823;refseq.end_2=1577687;refseq.end_3=1563959;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1100;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_080816;refseq.name_3=NM_018556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.L345L;refseq.referenceAA_3=Leu;refseq.referenceCodon_3=CTA;refseq.spliceDist_3=-47;refseq.start_1=1558963;refseq.start_2=1558963;refseq.start_3=1563959;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr20 1564137 . G A 174.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=98.09;MQ0=0;OQ=9842.24;QD=19.84;RankSumP=0.396392;SB=-2754.30;SecondBestBaseQ=32;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.857C>T;refseq.codonCoord_3=286;refseq.end_1=1564823;refseq.end_2=1577687;refseq.end_3=1564137;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=922;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_080816;refseq.name_3=NM_018556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.S286L;refseq.referenceAA_3=Ser;refseq.referenceCodon_3=TCG;refseq.spliceDist_3=109;refseq.start_1=1558963;refseq.start_2=1558963;refseq.start_3=1564137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Leu;refseq.variantCodon_3=TTG;set=Intersection GT 1/0 chr20 1564206 . A G 345.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=97.96;MQ0=0;OQ=4288.39;QD=17.72;RankSumP=0.0109379;SB=-1429.21;SecondBestBaseQ=31;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.788T>C;refseq.codonCoord_3=263;refseq.end_1=1564823;refseq.end_2=1577687;refseq.end_3=1564206;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=853;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_080816;refseq.name_3=NM_018556;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.V263A;refseq.referenceAA_3=Val;refseq.referenceCodon_3=GTG;refseq.spliceDist_3=40;refseq.start_1=1558963;refseq.start_2=1558963;refseq.start_3=1564206;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCG;set=Intersection GT 0/1 chr20 1577906 . C T 203.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=94.27;MQ0=0;OQ=2288.98;QD=17.88;RankSumP=0.404491;SB=-782.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.222G>A;refseq.codingCoordStr_2=c.222G>A;refseq.codingCoordStr_3=c.222G>A;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.codonCoord_3=74;refseq.end_1=1577906;refseq.end_2=1577906;refseq.end_3=1577906;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=287;refseq.mrnaCoord_2=287;refseq.mrnaCoord_3=287;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_018556;refseq.name_3=NM_080816;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R74R;refseq.proteinCoordStr_2=p.R74R;refseq.proteinCoordStr_3=p.R74R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.spliceDist_3=149;refseq.start_1=1577906;refseq.start_2=1577906;refseq.start_3=1577906;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 0/1 chr20 1578044 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.84T>G;refseq.codingCoordStr_2=c.84T>G;refseq.codingCoordStr_3=c.84T>G;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.codonCoord_3=28;refseq.end_1=1578044;refseq.end_2=1578044;refseq.end_3=1578044;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=149;refseq.mrnaCoord_2=149;refseq.mrnaCoord_3=149;refseq.name2_1=SIRPG;refseq.name2_2=SIRPG;refseq.name2_3=SIRPG;refseq.name_1=NM_001039508;refseq.name_2=NM_018556;refseq.name_3=NM_080816;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G28G;refseq.proteinCoordStr_2=p.G28G;refseq.proteinCoordStr_3=p.G28G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=1578044;refseq.start_2=1578044;refseq.start_3=1578044;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr20 1843794 rs1135192 G A 766.34 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=67.42;MQ0=0;QD=28.38;SB=-49.67;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.129G>A;refseq.codingCoordStr_2=c.129G>A;refseq.codingCoordStr_3=c.129G>A;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.codonCoord_3=43;refseq.end_1=1843794;refseq.end_2=1843794;refseq.end_3=1843794;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=397;refseq.mrnaCoord_3=156;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V43V;refseq.proteinCoordStr_2=p.V43V;refseq.proteinCoordStr_3=p.V43V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.start_1=1843794;refseq.start_2=1843794;refseq.start_3=1843794;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,25:20:-80.22,-6.02,-0.00:60.20 chr20 1843796 rs1135193 T C 665.48 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=67.71;MQ0=0;QD=27.73;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.131T>C;refseq.codingCoordStr_2=c.131T>C;refseq.codingCoordStr_3=c.131T>C;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.end_1=1843796;refseq.end_2=1843796;refseq.end_3=1843796;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=491;refseq.mrnaCoord_2=399;refseq.mrnaCoord_3=158;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L44S;refseq.proteinCoordStr_2=p.L44S;refseq.proteinCoordStr_3=p.L44S;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=1843796;refseq.start_2=1843796;refseq.start_3=1843796;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,24:17:-70.14,-5.12,-0.00:51.17 chr20 1843797 . G A 623.02 SnpCluster AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=67.83;MQ0=0;QD=27.09;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.132G>A;refseq.codingCoordStr_2=c.132G>A;refseq.codingCoordStr_3=c.132G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.codonCoord_3=44;refseq.end_1=1843797;refseq.end_2=1843797;refseq.end_3=1843797;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=492;refseq.mrnaCoord_2=400;refseq.mrnaCoord_3=159;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L44L;refseq.proteinCoordStr_2=p.L44L;refseq.proteinCoordStr_3=p.L44L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=1843797;refseq.start_2=1843797;refseq.start_3=1843797;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,23:16:-65.89,-4.82,-0.00:48.16 chr20 1843820 rs17855610 C T 42.13 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=38.21;MQ0=1;QD=14.04;SB=-42.55;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.155C>T;refseq.codingCoordStr_2=c.155C>T;refseq.codingCoordStr_3=c.155C>T;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.codonCoord_3=52;refseq.end_1=1843820;refseq.end_2=1843820;refseq.end_3=1843820;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=515;refseq.mrnaCoord_2=423;refseq.mrnaCoord_3=182;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T52I;refseq.proteinCoordStr_2=p.T52I;refseq.proteinCoordStr_3=p.T52I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=76;refseq.spliceDist_2=76;refseq.spliceDist_3=76;refseq.start_1=1843820;refseq.start_2=1843820;refseq.start_3=1843820;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,3:2:-7.62,-0.60,-0.00:6.02 chr20 1843826 rs17855611 G A 45.14 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=33.09;MQ0=2;QD=11.28;SB=-47.56;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.161G>A;refseq.codingCoordStr_2=c.161G>A;refseq.codingCoordStr_3=c.161G>A;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.codonCoord_3=54;refseq.end_1=1843826;refseq.end_2=1843826;refseq.end_3=1843826;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=521;refseq.mrnaCoord_2=429;refseq.mrnaCoord_3=188;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R54H;refseq.proteinCoordStr_2=p.R54H;refseq.proteinCoordStr_3=p.R54H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.start_1=1843826;refseq.start_2=1843826;refseq.start_3=1843826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,4:2:-7.92,-0.60,-0.00:6.02 chr20 1843835 rs1135198 C T 10.26 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=53.81;MQ0=2;QD=2.57;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.170C>T;refseq.codingCoordStr_2=c.170C>T;refseq.codingCoordStr_3=c.170C>T;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.end_1=1843835;refseq.end_2=1843835;refseq.end_3=1843835;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=530;refseq.mrnaCoord_2=438;refseq.mrnaCoord_3=197;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A57V;refseq.proteinCoordStr_2=p.A57V;refseq.proteinCoordStr_3=p.A57V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.spliceDist_3=91;refseq.start_1=1843835;refseq.start_2=1843835;refseq.start_3=1843835;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,3:1:-4.27,-0.30,-0.00:1.76 chr20 1843842 rs17853847 T C 36.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=57.66;MQ0=3;OQ=156.11;QD=15.61;SB=-51.96;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.177T>C;refseq.codingCoordStr_2=c.177T>C;refseq.codingCoordStr_3=c.177T>C;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.codonCoord_3=59;refseq.end_1=1843842;refseq.end_2=1843842;refseq.end_3=1843842;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=537;refseq.mrnaCoord_2=445;refseq.mrnaCoord_3=204;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S59S;refseq.proteinCoordStr_2=p.S59S;refseq.proteinCoordStr_3=p.S59S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.start_1=1843842;refseq.start_2=1843842;refseq.start_3=1843842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=gatk GT:AD:DP:GL:GQ 1/1:0,10:5:-19.17,-1.51,-0.00:15.05 chr20 1843889 . G C 7.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=43.58;MQ0=5;OQ=799.30;QD=36.33;RankSumP=1.00000;SB=-357.46;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.224G>C;refseq.codingCoordStr_2=c.224G>C;refseq.codingCoordStr_3=c.224G>C;refseq.codonCoord_1=75;refseq.codonCoord_2=75;refseq.codonCoord_3=75;refseq.end_1=1843889;refseq.end_2=1843889;refseq.end_3=1843889;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=584;refseq.mrnaCoord_2=492;refseq.mrnaCoord_3=251;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G75A;refseq.proteinCoordStr_2=p.G75A;refseq.proteinCoordStr_3=p.G75A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=145;refseq.spliceDist_2=145;refseq.spliceDist_3=145;refseq.start_1=1843889;refseq.start_2=1843889;refseq.start_3=1843889;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=filterInsoap-gatk GT 1/1 chr20 1843965 rs17855614 C A 29.69 ESPStandard;LowQual AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=70.88;MQ0=3;QD=1.48;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.300C>A;refseq.codingCoordStr_2=c.300C>A;refseq.codingCoordStr_3=c.300C>A;refseq.codonCoord_1=100;refseq.codonCoord_2=100;refseq.codonCoord_3=100;refseq.end_1=1843965;refseq.end_2=1843965;refseq.end_3=1843965;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=660;refseq.mrnaCoord_2=568;refseq.mrnaCoord_3=327;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N100K;refseq.proteinCoordStr_2=p.N100K;refseq.proteinCoordStr_3=p.N100K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=-137;refseq.spliceDist_2=-137;refseq.spliceDist_3=-137;refseq.start_1=1843965;refseq.start_2=1843965;refseq.start_3=1843965;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,19:2:-6.38,-0.60,-0.00:6.01 chr20 1843984 . C A 119.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=80.39;MQ0=3;OQ=1036.23;QD=33.43;RankSumP=1.00000;SB=-178.79;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.319C>A;refseq.codingCoordStr_2=c.319C>A;refseq.codingCoordStr_3=c.319C>A;refseq.codonCoord_1=107;refseq.codonCoord_2=107;refseq.codonCoord_3=107;refseq.end_1=1843984;refseq.end_2=1843984;refseq.end_3=1843984;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=679;refseq.mrnaCoord_2=587;refseq.mrnaCoord_3=346;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R107S;refseq.proteinCoordStr_2=p.R107S;refseq.proteinCoordStr_3=p.R107S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-118;refseq.spliceDist_2=-118;refseq.spliceDist_3=-118;refseq.start_1=1843984;refseq.start_2=1843984;refseq.start_3=1843984;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=filterInsoap-gatk GT 1/1 chr20 1843990 . G A 221.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=80.66;MQ0=3;OQ=1249.76;QD=37.87;RankSumP=1.00000;SB=-178.22;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.325G>A;refseq.codingCoordStr_2=c.325G>A;refseq.codingCoordStr_3=c.325G>A;refseq.codonCoord_1=109;refseq.codonCoord_2=109;refseq.codonCoord_3=109;refseq.end_1=1843990;refseq.end_2=1843990;refseq.end_3=1843990;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=685;refseq.mrnaCoord_2=593;refseq.mrnaCoord_3=352;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G109S;refseq.proteinCoordStr_2=p.G109S;refseq.proteinCoordStr_3=p.G109S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-112;refseq.spliceDist_2=-112;refseq.spliceDist_3=-112;refseq.start_1=1843990;refseq.start_2=1843990;refseq.start_3=1843990;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=filterInsoap-gatk GT 1/1 chr20 1844059 . G A 4818.46 Indel AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=92.36;MQ0=0;QD=41.54;SB=-437.09;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.394G>A;refseq.codingCoordStr_2=c.394G>A;refseq.codingCoordStr_3=c.394G>A;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.codonCoord_3=132;refseq.end_1=1844059;refseq.end_2=1844059;refseq.end_3=1844059;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=754;refseq.mrnaCoord_2=662;refseq.mrnaCoord_3=421;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V132M;refseq.proteinCoordStr_2=p.V132M;refseq.proteinCoordStr_3=p.V132M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=1844059;refseq.start_2=1844059;refseq.start_3=1844059;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:0,116:113:-480.85,-34.03,-0.02:99 chr20 1844060 . T C 4557.66 BadSOAPSNP;Indel AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=120;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=92.50;MQ0=0;QD=37.98;RankSumP=1.00000;SB=-452.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.395T>C;refseq.codingCoordStr_2=c.395T>C;refseq.codingCoordStr_3=c.395T>C;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.codonCoord_3=132;refseq.end_1=1844060;refseq.end_2=1844060;refseq.end_3=1844060;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=755;refseq.mrnaCoord_2=663;refseq.mrnaCoord_3=422;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V132A;refseq.proteinCoordStr_2=p.V132A;refseq.proteinCoordStr_3=p.V132A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.spliceDist_3=-42;refseq.start_1=1844060;refseq.start_2=1844060;refseq.start_3=1844060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=FilteredInAll GT 1/1 chr20 1844100 . C T 222.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=94.85;MQ0=0;OQ=10536.89;QD=41.00;RankSumP=1.00000;SB=-4819.90;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.435C>T;refseq.codingCoordStr_2=c.435C>T;refseq.codingCoordStr_3=c.435C>T;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.codonCoord_3=145;refseq.end_1=1844100;refseq.end_2=1844100;refseq.end_3=1844100;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=795;refseq.mrnaCoord_2=703;refseq.mrnaCoord_3=462;refseq.name2_1=SIRPA;refseq.name2_2=SIRPA;refseq.name2_3=SIRPA;refseq.name_1=NM_001040022;refseq.name_2=NM_001040023;refseq.name_3=NM_080792;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R145R;refseq.proteinCoordStr_2=p.R145R;refseq.proteinCoordStr_3=p.R145R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=1844100;refseq.start_2=1844100;refseq.start_3=1844100;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chr20 2238333 . C A 332.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=1.83;MQ=98.73;MQ0=0;OQ=3732.40;QD=39.71;RankSumP=1.00000;SB=-1560.98;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.38C>A;refseq.codonCoord=13;refseq.end=2238333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_003245;refseq.name2=TGM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T13K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=31;refseq.start=2238333;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr20 2256942 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1264T>G;refseq.codonCoord=422;refseq.end=2256942;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1361;refseq.name=NM_003245;refseq.name2=TGM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y422D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-70;refseq.start=2256942;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr20 2269105 . G C 121.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=468;Dels=0.00;HRun=0;HaplotypeScore=9.22;MQ=98.78;MQ0=0;OQ=20085.83;QD=42.92;RankSumP=1.00000;SB=-10004.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1960G>C;refseq.codonCoord=654;refseq.end=2269105;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2057;refseq.name=NM_003245;refseq.name2=TGM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G654R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=26;refseq.start=2269105;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr20 2323262 . A G 231.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1399.89;QD=36.84;RankSumP=1.00000;SB=-611.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.172A>G;refseq.codonCoord=58;refseq.end=2323262;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_198994;refseq.name2=TGM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.M58V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=2323262;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr20 2328323 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=8.71;MQ=91.47;MQ0=0;OQ=352.79;QD=6.92;RankSumP=0.460935;SB=-142.10;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.789G>A;refseq.codonCoord=263;refseq.end=2328323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=850;refseq.name=NM_198994;refseq.name2=TGM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K263K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-62;refseq.start=2328323;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr20 2332044 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.991A>G;refseq.codonCoord=331;refseq.end=2332044;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1052;refseq.name=NM_198994;refseq.name2=TGM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N331D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=2332044;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 0/1 chr20 2345899 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.000496243;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1358T>G;refseq.codonCoord=453;refseq.end=2345899;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1419;refseq.name=NM_198994;refseq.name2=TGM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V453G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=22;refseq.start=2345899;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 2359571 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1865T>G;refseq.codonCoord=622;refseq.end=2359571;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1926;refseq.name=NM_198994;refseq.name2=TGM6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V622G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=32;refseq.start=2359571;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr20 2391822 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.472A>C;refseq.codingCoordStr_2=c.472A>C;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.end_1=2391822;refseq.end_2=2391822;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=635;refseq.mrnaCoord_2=635;refseq.name2_1=SNRPB;refseq.name2_2=SNRPB;refseq.name_1=NM_003091;refseq.name_2=NM_198216;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T158P;refseq.proteinCoordStr_2=p.T158P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=2391822;refseq.start_2=2391822;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr20 2412353 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=296;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=98.99;MQ0=0;OQ=5714.78;QD=19.31;RankSumP=0.0683403;SB=-2198.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1254T>C;refseq.codonCoord=418;refseq.end=2412353;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1742;refseq.name=NM_024325;refseq.name2=ZNF343;refseq.positionType=CDS;refseq.proteinCoordStr=p.F418F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=950;refseq.start=2412353;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr20 2412984 . T C 249.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.81;MQ0=0;OQ=4541.19;QD=20.36;RankSumP=0.448799;SB=-1522.63;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.623A>G;refseq.codonCoord=208;refseq.end=2412984;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1111;refseq.name=NM_024325;refseq.name2=ZNF343;refseq.positionType=CDS;refseq.proteinCoordStr=p.N208S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=319;refseq.start=2412984;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 2413304 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=323;Dels=0.00;HRun=0;HaplotypeScore=30.77;MQ=98.30;MQ0=0;OQ=4356.63;QD=13.49;RankSumP=0.259222;SB=-1555.34;SecondBestBaseQ=28;refseq.chr=chr20;refseq.codingCoordStr=c.305-2;refseq.end=2413304;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_024325;refseq.name2=ZNF343;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=2413304;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr20 2487387 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.36;MQ0=0;OQ=1416.36;QD=21.79;RankSumP=0.451046;SB=-687.18;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.368G>A;refseq.codonCoord=123;refseq.end=2487387;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_080751;refseq.name2=TMC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R123K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-34;refseq.start=2487387;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr20 2523506 . C A 0.03 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=138;Dels=0.00;HRun=1;HaplotypeScore=11.63;MQ=97.31;MQ0=0;OQ=63.42;QD=0.46;RankSumP=0.00000;SB=65.22;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.969C>A;refseq.codonCoord=323;refseq.end=2523506;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_080751;refseq.name2=TMC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y323*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=36;refseq.start=2523506;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr20 2566140 . T C 101.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.83;MQ0=0;OQ=2024.55;QD=13.68;RankSumP=0.293395;SB=-540.04;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2406T>C;refseq.codonCoord=802;refseq.end=2566140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2421;refseq.name=NM_080751;refseq.name2=TMC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S802S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=21;refseq.start=2566140;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 2569998 . T C 147.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=97.22;MQ0=0;OQ=504.36;QD=15.28;RankSumP=0.233837;SB=-100.00;SecondBestBaseQ=29;refseq.chr=chr20;refseq.codingCoordStr=c.*1T>C;refseq.end=2569998;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=2737;refseq.name=NM_080751;refseq.name2=TMC2;refseq.positionType=utr3;refseq.spliceDist=219;refseq.start=2569998;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr20 2581936 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=12.52;MQ=98.83;MQ0=0;OQ=4247.04;QD=20.72;RankSumP=0.412155;SB=-977.28;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.105T>C;refseq.codonCoord_2=35;refseq.end_1=2581936;refseq.end_2=2581936;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=158;refseq.mrnaCoord_2=158;refseq.name2_1=NOP56;refseq.name2_2=NOP56;refseq.name_1=NR_027700;refseq.name_2=NM_006392;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S35S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=2581936;refseq.start_2=2581936;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr20 2585071 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=1.96;MQ=98.77;MQ0=0;OQ=1956.14;QD=13.58;RankSumP=0.216329;SB=-876.61;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1035T>C;refseq.codonCoord_2=345;refseq.end_1=2585071;refseq.end_2=2585071;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1268;refseq.mrnaCoord_2=1088;refseq.name2_1=NOP56;refseq.name2_2=NOP56;refseq.name_1=NR_027700;refseq.name_2=NM_006392;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T345T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=2585071;refseq.start_2=2585071;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr20 2586579 . T C 272.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=96.69;MQ0=0;OQ=1614.12;QD=17.74;RankSumP=0.461280;SB=-730.63;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1424T>C;refseq.codonCoord_2=475;refseq.end_1=2586579;refseq.end_2=2586579;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1657;refseq.mrnaCoord_2=1477;refseq.name2_1=NOP56;refseq.name2_2=NOP56;refseq.name_1=NR_027700;refseq.name_2=NM_006392;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M475T;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=2586579;refseq.start_2=2586579;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr20 2586627 . C A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.439484;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1472C>A;refseq.codonCoord_2=491;refseq.end_1=2586627;refseq.end_2=2586627;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1705;refseq.mrnaCoord_2=1525;refseq.name2_1=NOP56;refseq.name2_2=NOP56;refseq.name_1=NR_027700;refseq.name_2=NM_006392;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P491H;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.start_1=2586627;refseq.start_2=2586627;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=soap GT 1/0 chr20 2586882 . T C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=60.43;MQ0=4;QD=0.97;RankSumP=0.285714;SB=5.05;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1727T>C;refseq.codonCoord_2=576;refseq.end_1=2586882;refseq.end_2=2586882;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1960;refseq.mrnaCoord_2=1780;refseq.name2_1=NOP56;refseq.name2_2=NOP56;refseq.name_1=NR_027700;refseq.name_2=NM_006392;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V576A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-157;refseq.spliceDist_2=-158;refseq.start_1=2586882;refseq.start_2=2586882;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=soap-filterIngatk GT 1/0 chr20 2724318 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1647A>C;refseq.codonCoord=549;refseq.end=2724318;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1711;refseq.name=NM_019609;refseq.name2=CPXM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R549R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-74;refseq.start=2724318;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr20 2724668 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1382A>C;refseq.codonCoord=461;refseq.end=2724668;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_019609;refseq.name2=CPXM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H461P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-41;refseq.start=2724668;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 2764821 . C T 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=252.96;QD=13.31;RankSumP=0.000725281;SB=-6.99;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.981G>A;refseq.codonCoord=327;refseq.end=2764821;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1478;refseq.name=NM_022760;refseq.name2=FAM113A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P327P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-137;refseq.start=2764821;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 0/1 chr20 2788773 . C T 274.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.84;MQ0=0;OQ=4449.00;QD=22.93;RankSumP=0.0340489;SB=-1652.17;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.216C>T;refseq.codingCoordStr_2=c.216C>T;refseq.codonCoord_1=72;refseq.codonCoord_2=72;refseq.end_1=2788773;refseq.end_2=2788773;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=264;refseq.mrnaCoord_2=264;refseq.name2_1=VPS16;refseq.name2_2=VPS16;refseq.name_1=NM_022575;refseq.name_2=NM_080413;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S72S;refseq.proteinCoordStr_2=p.S72S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=2788773;refseq.start_2=2788773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr20 2944497 . C T 117.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.71;MQ0=0;OQ=2233.39;QD=12.62;RankSumP=0.240336;SB=-763.37;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.909C>T;refseq.codingCoordStr_2=c.882C>T;refseq.codingCoordStr_3=c.882C>T;refseq.codonCoord_1=303;refseq.codonCoord_2=294;refseq.codonCoord_3=294;refseq.end_1=2944497;refseq.end_2=2944497;refseq.end_3=2944497;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1584;refseq.mrnaCoord_2=1275;refseq.mrnaCoord_3=1100;refseq.name2_1=PTPRA;refseq.name2_2=PTPRA;refseq.name2_3=PTPRA;refseq.name_1=NM_002836;refseq.name_2=NM_080840;refseq.name_3=NM_080841;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G303G;refseq.proteinCoordStr_2=p.G294G;refseq.proteinCoordStr_3=p.G294G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=2944497;refseq.start_2=2944497;refseq.start_3=2944497;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 0/1 chr20 2973107 . C T 327.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=98.72;MQ0=0;OQ=4980.55;QD=17.35;RankSumP=0.0352297;SB=-1085.55;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.47C>T;refseq.codingCoordStr_2=c.47C>T;refseq.codingCoordStr_3=c.47C>T;refseq.codonCoord_1=16;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.end_1=2973107;refseq.end_2=2973107;refseq.end_3=2973107;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=98;refseq.mrnaCoord_2=98;refseq.mrnaCoord_3=98;refseq.name2_1=GNRH2;refseq.name2_2=GNRH2;refseq.name2_3=GNRH2;refseq.name_1=NM_001501;refseq.name_2=NM_178331;refseq.name_3=NM_178332;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A16V;refseq.proteinCoordStr_2=p.A16V;refseq.proteinCoordStr_3=p.A16V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.start_1=2973107;refseq.start_2=2973107;refseq.start_3=2973107;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 0/1 chr20 3038848 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=100;Dels=0.00;HRun=3;HaplotypeScore=3.70;MQ=97.71;MQ0=0;OQ=1694.73;QD=16.95;RankSumP=0.109527;SB=-556.84;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1530A>C;refseq.codingCoordStr_2=c.1368A>C;refseq.codonCoord_1=510;refseq.codonCoord_2=456;refseq.end_1=3038848;refseq.end_2=3038848;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1700;refseq.mrnaCoord_2=1538;refseq.name2_1=UBOX5;refseq.name2_2=UBOX5;refseq.name_1=NM_014948;refseq.name_2=NM_199415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R510R;refseq.proteinCoordStr_2=p.R456R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=3038848;refseq.start_2=3038848;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr20 3094356 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=3;RankSumP=0.613387;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1110C>G;refseq.codonCoord=370;refseq.end=3094356;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2508;refseq.name=NM_014731;refseq.name2=ProSAPiP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G370G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-214;refseq.start=3094356;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 3094733 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.733A>C;refseq.codonCoord=245;refseq.end=3094733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2131;refseq.name=NM_014731;refseq.name2=ProSAPiP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T245P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=274;refseq.start=3094733;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 3095468 . G A 170.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1905.20;QD=17.48;RankSumP=0.320574;SB=-873.97;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.342C>T;refseq.codonCoord=114;refseq.end=3095468;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1740;refseq.name=NM_014731;refseq.name2=ProSAPiP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N114N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-118;refseq.start=3095468;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr20 3095762 . A G 47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=98.05;MQ0=0;OQ=988.39;QD=36.61;RankSumP=1.00000;SB=-398.83;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.48T>C;refseq.codonCoord=16;refseq.end=3095762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1446;refseq.name=NM_014731;refseq.name2=ProSAPiP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D16D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-412;refseq.start=3095762;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr20 3119337 . C T 204.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=99.00;MQ0=0;OQ=623.25;QD=16.84;RankSumP=0.0256318;SB=-303.17;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.907G>A;refseq.codonCoord=303;refseq.end=3119337;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_023935;refseq.name2=DDRGK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A303T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=129;refseq.start=3119337;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr20 3158301 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.35;MQ0=0;OQ=1224.56;QD=15.12;RankSumP=0.369555;SB=-279.24;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1611C>T;refseq.codingCoordStr_2=c.1740C>T;refseq.codingCoordStr_3=c.1659C>T;refseq.codonCoord_1=537;refseq.codonCoord_2=580;refseq.codonCoord_3=553;refseq.end_1=3158301;refseq.end_2=3158301;refseq.end_3=3158301;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1715;refseq.mrnaCoord_2=1865;refseq.mrnaCoord_3=1707;refseq.name2_1=SLC4A11;refseq.name2_2=SLC4A11;refseq.name2_3=SLC4A11;refseq.name_1=NM_001174089;refseq.name_2=NM_001174090;refseq.name_3=NM_032034;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N537N;refseq.proteinCoordStr_2=p.N580N;refseq.proteinCoordStr_3=p.N553N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.spliceDist_3=122;refseq.start_1=3158301;refseq.start_2=3158301;refseq.start_3=3158301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr20 3159235 . C T 239.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=98.91;MQ0=0;OQ=1765.45;QD=14.84;RankSumP=0.398581;SB=-791.18;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1341G>A;refseq.codingCoordStr_2=c.1470G>A;refseq.codingCoordStr_3=c.1389G>A;refseq.codonCoord_1=447;refseq.codonCoord_2=490;refseq.codonCoord_3=463;refseq.end_1=3159235;refseq.end_2=3159235;refseq.end_3=3159235;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1445;refseq.mrnaCoord_2=1595;refseq.mrnaCoord_3=1437;refseq.name2_1=SLC4A11;refseq.name2_2=SLC4A11;refseq.name2_3=SLC4A11;refseq.name_1=NM_001174089;refseq.name_2=NM_001174090;refseq.name_3=NM_032034;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T447T;refseq.proteinCoordStr_2=p.T490T;refseq.proteinCoordStr_3=p.T463T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=3159235;refseq.start_2=3159235;refseq.start_3=3159235;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 0/1 chr20 3184703 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3210C>G;refseq.codonCoord=1070;refseq.end=3184703;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3261;refseq.name=NM_001009984;refseq.name2=C20orf194;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1070W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-52;refseq.start=3184703;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr20 3233140 . T C 222.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=307;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.90;MQ0=0;OQ=12800.01;QD=41.69;RankSumP=1.00000;SB=-5216.40;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1729A>G;refseq.codonCoord=577;refseq.end=3233140;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1780;refseq.name=NM_001009984;refseq.name2=C20orf194;refseq.positionType=CDS;refseq.proteinCoordStr=p.R577G;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=51;refseq.start=3233140;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr20 3310103 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=5.11134e-09;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.206A>C;refseq.codonCoord=69;refseq.end=3310103;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_001009984;refseq.name2=C20orf194;refseq.positionType=CDS;refseq.proteinCoordStr=p.N69T;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=43;refseq.start=3310103;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/0 chr20 3311133 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.104T>G;refseq.codonCoord=35;refseq.end=3311133;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_001009984;refseq.name2=C20orf194;refseq.positionType=CDS;refseq.proteinCoordStr=p.V35G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=21;refseq.start=3311133;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr20 3463924 . G A 102.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.60;MQ0=0;OQ=3044.15;QD=13.77;RankSumP=0.302489;SB=-1311.67;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.435G>A;refseq.codingCoordStr_2=c.435G>A;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=3463924;refseq.end_2=3463924;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=525;refseq.mrnaCoord_2=525;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V145V;refseq.proteinCoordStr_2=p.V145V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=3463924;refseq.start_2=3463924;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;set=Intersection GT 1/0 chr20 3463951 . C T 213.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=6.16;MQ=98.42;MQ0=0;OQ=3072.03;QD=13.71;RankSumP=0.185226;SB=-1484.25;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.462C>T;refseq.codingCoordStr_2=c.462C>T;refseq.codonCoord_1=154;refseq.codonCoord_2=154;refseq.end_1=3463951;refseq.end_2=3463951;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=552;refseq.mrnaCoord_2=552;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y154Y;refseq.proteinCoordStr_2=p.Y154Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=3463951;refseq.start_2=3463951;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr20 3512672 . C T 331.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.49;MQ0=0;OQ=2716.51;QD=18.35;RankSumP=0.274510;SB=-1106.12;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2892C>T;refseq.codingCoordStr_2=c.2892C>T;refseq.codonCoord_1=964;refseq.codonCoord_2=964;refseq.end_1=3512672;refseq.end_2=3512672;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2982;refseq.mrnaCoord_2=2982;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y964Y;refseq.proteinCoordStr_2=p.Y964Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=3512672;refseq.start_2=3512672;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr20 3513356 . T G 30.61 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=315;Dels=0.00;HRun=2;HaplotypeScore=17.27;MQ=97.22;MQ0=0;QD=0.10;RankSumP=0.00000;SB=372.22;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3013T>G;refseq.codingCoordStr_2=c.3013T>G;refseq.codonCoord_1=1005;refseq.codonCoord_2=1005;refseq.end_1=3513356;refseq.end_2=3513356;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3103;refseq.mrnaCoord_2=3103;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C1005G;refseq.proteinCoordStr_2=p.C1005G;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=3513356;refseq.start_2=3513356;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr20 3513431 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3088C>A;refseq.codingCoordStr_2=c.3088C>A;refseq.codonCoord_1=1030;refseq.codonCoord_2=1030;refseq.end_1=3513431;refseq.end_2=3513431;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3178;refseq.mrnaCoord_2=3178;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1030K;refseq.proteinCoordStr_2=p.Q1030K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.start_1=3513431;refseq.start_2=3513431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr20 3526637 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3554C>A;refseq.codingCoordStr_2=c.3554C>A;refseq.codonCoord_1=1185;refseq.codonCoord_2=1185;refseq.end_1=3526637;refseq.end_2=3526637;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3644;refseq.mrnaCoord_2=3644;refseq.name2_1=ATRN;refseq.name2_2=ATRN;refseq.name_1=NM_139321;refseq.name_2=NM_139322;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1185N;refseq.proteinCoordStr_2=p.T1185N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=3526637;refseq.start_2=3526637;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;set=FilteredInAll GT 1/0 chr20 3572830 . G A 306.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.75;MQ0=0;OQ=4970.87;QD=19.27;RankSumP=0.142093;SB=-1232.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4080G>A;refseq.codonCoord=1360;refseq.end=3572830;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4170;refseq.name=NM_139321;refseq.name2=ATRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1360P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=30;refseq.start=3572830;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr20 3572848 . C T 219.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=10.51;MQ=98.73;MQ0=0;OQ=5647.99;QD=21.81;RankSumP=0.447316;SB=-2140.08;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4098C>T;refseq.codonCoord=1366;refseq.end=3572848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4188;refseq.name=NM_139321;refseq.name2=ATRN;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1366A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=48;refseq.start=3572848;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr20 3588823 . C T 227.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.34;MQ0=0;OQ=1684.66;QD=36.62;RankSumP=1.00000;SB=-308.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.711G>A;refseq.codingCoordStr_2=c.801G>A;refseq.codonCoord_1=237;refseq.codonCoord_2=267;refseq.end_1=3588823;refseq.end_2=3588823;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=711;refseq.mrnaCoord_2=801;refseq.name2_1=GFRA4;refseq.name2_2=GFRA4;refseq.name_1=NM_022139;refseq.name_2=NM_145762;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P237P;refseq.proteinCoordStr_2=p.P267P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.start_1=3588823;refseq.start_2=3588823;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr20 3598220 . T G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.123327;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2305A>C;refseq.codingCoordStr_2=c.2227A>C;refseq.codonCoord_1=769;refseq.codonCoord_2=743;refseq.end_1=3598220;refseq.end_2=3598220;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2392;refseq.mrnaCoord_2=2314;refseq.name2_1=ADAM33;refseq.name2_2=ADAM33;refseq.name_1=NM_025220;refseq.name_2=NM_153202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T769P;refseq.proteinCoordStr_2=p.T743P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=3598220;refseq.start_2=3598220;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr20 3599949 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=9.09356e-08;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2027C>G;refseq.codingCoordStr_2=c.1949C>G;refseq.codonCoord_1=676;refseq.codonCoord_2=650;refseq.end_1=3599949;refseq.end_2=3599949;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2114;refseq.mrnaCoord_2=2036;refseq.name2_1=ADAM33;refseq.name2_2=ADAM33;refseq.name_1=NM_025220;refseq.name_2=NM_153202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A676G;refseq.proteinCoordStr_2=p.A650G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=3599949;refseq.start_2=3599949;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr20 3620836 . G A 130.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=98.47;MQ0=0;OQ=3150.69;QD=14.45;RankSumP=0.0905177;SB=-1454.87;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4044C>T;refseq.codonCoord=1348;refseq.end=3620836;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4044;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1348D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=14;refseq.start=3620836;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr20 3623333 . G A 351.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=2276.17;QD=37.94;RankSumP=1.00000;SB=-505.66;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2921C>T;refseq.codonCoord=974;refseq.end=3623333;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2921;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A974V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-24;refseq.start=3623333;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr20 3623412 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2842G>C;refseq.codonCoord=948;refseq.end=3623412;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2842;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A948P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-103;refseq.start=3623412;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr20 3623498 . T G 329.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=3.89;MQ=97.96;MQ0=0;OQ=4241.59;QD=38.91;RankSumP=1.00000;SB=-1751.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2756A>C;refseq.codonCoord=919;refseq.end=3623498;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2756;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H919P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=73;refseq.start=3623498;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr20 3625357 . T C 88.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=7.90;MQ=98.80;MQ0=0;OQ=4401.57;QD=41.14;RankSumP=1.00000;SB=-1371.22;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2559A>G;refseq.codonCoord=853;refseq.end=3625357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2559;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K853K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-125;refseq.start=3625357;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr20 3625736 . T G 95.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.90;MQ0=0;OQ=3590.18;QD=32.06;RankSumP=1.00000;SB=-892.59;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2376A>C;refseq.codonCoord=792;refseq.end=3625736;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2376;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V792V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=3625736;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr20 3630011 . G A 428.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=98.41;MQ0=0;OQ=4153.37;QD=39.18;RankSumP=1.00000;SB=-1249.08;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1506C>T;refseq.codonCoord=502;refseq.end=3630011;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1506;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S502S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-23;refseq.start=3630011;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr20 3630149 . G A 245.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=99.00;MQ0=0;OQ=4633.74;QD=20.32;RankSumP=0.0812303;SB=-1738.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1368C>T;refseq.codonCoord=456;refseq.end=3630149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S456S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=140;refseq.start=3630149;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr20 3630275 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.70;MQ0=0;OQ=2419.31;QD=37.80;RankSumP=1.00000;SB=-656.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1242T>C;refseq.codonCoord=414;refseq.end=3630275;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1242;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T414T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=14;refseq.start=3630275;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr20 3632022 . A G 261.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=6.86;MQ=98.73;MQ0=0;OQ=10453.51;QD=35.80;RankSumP=1.00000;SB=-5182.79;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1050T>C;refseq.codonCoord=350;refseq.end=3632022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N350N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=77;refseq.start=3632022;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr20 3632729 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=300;Dels=0.00;HRun=3;HaplotypeScore=9.18;MQ=98.74;MQ0=0;OQ=11740.28;QD=39.13;RankSumP=1.00000;SB=-5167.09;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.716A>G;refseq.codonCoord=239;refseq.end=3632729;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K239R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=3632729;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr20 3634436 . C T 355.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.73;MQ0=0;OQ=4197.31;QD=17.56;RankSumP=0.468722;SB=-1641.85;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.661G>A;refseq.codonCoord=221;refseq.end=3634436;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=661;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V221M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-46;refseq.start=3634436;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr20 3635197 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.218807;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.206T>G;refseq.codonCoord=69;refseq.end=3635197;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_023068;refseq.name2=SIGLEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V69G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=157;refseq.start=3635197;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 3680633 . C T 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.18;MQ0=0;OQ=92.70;QD=5.15;RankSumP=0.116340;SB=-0.97;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1881C>T;refseq.codonCoord=627;refseq.end=3680633;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1984;refseq.name=NM_052970;refseq.name2=HSPA12B;refseq.positionType=CDS;refseq.proteinCoordStr=p.C627C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=476;refseq.start=3680633;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr20 3714941 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=265;Dels=0.00;HRun=2;HaplotypeScore=20.58;MQ=96.98;MQ0=0;OQ=268.75;QD=1.01;RankSumP=0.00000;SB=296.94;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.190A>C;refseq.codonCoord=64;refseq.end=3714941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_001810;refseq.name2=CENPB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T64P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=397;refseq.start=3714941;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 3714944 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.187T>C;refseq.codonCoord=63;refseq.end=3714944;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_001810;refseq.name2=CENPB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S63P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=394;refseq.start=3714944;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 3732110 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=1;HaplotypeScore=14.97;MQ=98.65;MQ0=0;OQ=6127.59;QD=18.85;RankSumP=0.327539;SB=-2180.61;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1374C>T;refseq.codingCoordStr_2=c.1293C>T;refseq.codingCoordStr_3=c.1416C>T;refseq.codonCoord_1=458;refseq.codonCoord_2=431;refseq.codonCoord_3=472;refseq.end_1=3732110;refseq.end_2=3732110;refseq.end_3=3732110;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2152;refseq.mrnaCoord_2=2071;refseq.mrnaCoord_3=2194;refseq.name2_1=CDC25B;refseq.name2_2=CDC25B;refseq.name2_3=CDC25B;refseq.name_1=NM_004358;refseq.name_2=NM_021872;refseq.name_3=NM_021873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I458I;refseq.proteinCoordStr_2=p.I431I;refseq.proteinCoordStr_3=p.I472I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=3732110;refseq.start_2=3732110;refseq.start_3=3732110;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;set=Intersection GT 0/1 chr20 3733257 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1490A>C;refseq.codingCoordStr_2=c.1409A>C;refseq.codingCoordStr_3=c.1532A>C;refseq.codonCoord_1=497;refseq.codonCoord_2=470;refseq.codonCoord_3=511;refseq.end_1=3733257;refseq.end_2=3733257;refseq.end_3=3733257;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2268;refseq.mrnaCoord_2=2187;refseq.mrnaCoord_3=2310;refseq.name2_1=CDC25B;refseq.name2_2=CDC25B;refseq.name2_3=CDC25B;refseq.name_1=NM_004358;refseq.name_2=NM_021872;refseq.name_3=NM_021873;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y497S;refseq.proteinCoordStr_2=p.Y470S;refseq.proteinCoordStr_3=p.Y511S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.spliceDist_3=42;refseq.start_1=3733257;refseq.start_2=3733257;refseq.start_3=3733257;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chr20 3792904 . T G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.85119e-06;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.627T>G;refseq.codonCoord=209;refseq.end=3792904;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=796;refseq.name=NM_020746;refseq.name2=MAVS;refseq.positionType=CDS;refseq.proteinCoordStr=p.G209G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=3792904;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 3818124 . G C 110.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=98.89;QD=19.78;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.377G>C;refseq.codonCoord_2=126;refseq.end_1=3836562;refseq.end_2=3818124;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=383;refseq.name2_1=PANK2;refseq.name2_2=PANK2;refseq.name_1=NM_024960;refseq.name_2=NM_153638;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G126A;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=-252;refseq.start_1=3817562;refseq.start_2=3818124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCG;set=filterInsoap-gatk GT 1/1 chr20 4106164 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=708.25;QD=12.21;RankSumP=0.697893;SB=-348.99;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.375C>A;refseq.codingCoordStr_2=c.375C>A;refseq.codingCoordStr_3=c.375C>A;refseq.codingCoordStr_4=c.375C>A;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.codonCoord_3=125;refseq.codonCoord_4=125;refseq.end_1=4106164;refseq.end_2=4106164;refseq.end_3=4106164;refseq.end_4=4106164;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=576;refseq.mrnaCoord_2=576;refseq.mrnaCoord_3=576;refseq.mrnaCoord_4=576;refseq.name2_1=SMOX;refseq.name2_2=SMOX;refseq.name2_3=SMOX;refseq.name2_4=SMOX;refseq.name_1=NM_175839;refseq.name_2=NM_175840;refseq.name_3=NM_175841;refseq.name_4=NM_175842;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T125T;refseq.proteinCoordStr_2=p.T125T;refseq.proteinCoordStr_3=p.T125T;refseq.proteinCoordStr_4=p.T125T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.spliceDist_3=-61;refseq.spliceDist_4=-61;refseq.start_1=4106164;refseq.start_2=4106164;refseq.start_3=4106164;refseq.start_4=4106164;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;set=Intersection GT 1/0 chr20 4111302 . A G 204.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=262;Dels=0.00;HRun=1;HaplotypeScore=8.67;MQ=98.71;MQ0=0;OQ=4179.64;QD=15.95;RankSumP=0.304697;SB=-1521.70;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_2=c.1176A>G;refseq.codingCoordStr_3=c.1017A>G;refseq.codingCoordStr_4=c.1017A>G;refseq.codonCoord_2=392;refseq.codonCoord_3=339;refseq.codonCoord_4=339;refseq.end_1=4115906;refseq.end_2=4111302;refseq.end_3=4111302;refseq.end_4=4111302;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1377;refseq.mrnaCoord_3=1218;refseq.mrnaCoord_4=1218;refseq.name2_1=SMOX;refseq.name2_2=SMOX;refseq.name2_3=SMOX;refseq.name2_4=SMOX;refseq.name_1=NM_175841;refseq.name_2=NM_175839;refseq.name_3=NM_175840;refseq.name_4=NM_175842;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.A392A;refseq.proteinCoordStr_3=p.A339A;refseq.proteinCoordStr_4=p.A339A;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_2=-194;refseq.spliceDist_3=173;refseq.spliceDist_4=173;refseq.start_1=4106235;refseq.start_2=4111302;refseq.start_3=4111302;refseq.start_4=4111302;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 0/1 chr20 4112283 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=97.80;MQ0=0;OQ=747.46;QD=17.38;RankSumP=0.505360;SB=-6.99;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_2=c.1512A>G;refseq.codingCoordStr_3=c.1353A>G;refseq.codingCoordStr_4=c.1353A>G;refseq.codonCoord_2=504;refseq.codonCoord_3=451;refseq.codonCoord_4=451;refseq.end_1=4115906;refseq.end_2=4112283;refseq.end_3=4112283;refseq.end_4=4112283;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1713;refseq.mrnaCoord_3=1554;refseq.mrnaCoord_4=1554;refseq.name2_1=SMOX;refseq.name2_2=SMOX;refseq.name2_3=SMOX;refseq.name2_4=SMOX;refseq.name_1=NM_175841;refseq.name_2=NM_175839;refseq.name_3=NM_175840;refseq.name_4=NM_175842;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.T504T;refseq.proteinCoordStr_3=p.T451T;refseq.proteinCoordStr_4=p.T451T;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.spliceDist_4=-19;refseq.start_1=4106235;refseq.start_2=4112283;refseq.start_3=4112283;refseq.start_4=4112283;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr20 4177266 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.339T>G;refseq.codonCoord=113;refseq.end=4177266;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=394;refseq.name=NM_000678;refseq.name2=ADRA1D;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=394;refseq.start=4177266;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 4628251 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=98.61;MQ0=0;OQ=192.07;QD=3.56;RankSumP=0.514520;SB=-38.65;SecondBestBaseQ=19;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.codingCoordStr_1=c.385A>G;refseq.codingCoordStr_2=c.385A>G;refseq.codingCoordStr_3=c.385A>G;refseq.codingCoordStr_4=c.385A>G;refseq.codingCoordStr_5=c.385A>G;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.codonCoord_3=129;refseq.codonCoord_4=129;refseq.codonCoord_5=129;refseq.end_1=4628251;refseq.end_2=4628251;refseq.end_3=4628251;refseq.end_4=4628251;refseq.end_5=4628251;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=757;refseq.mrnaCoord_2=752;refseq.mrnaCoord_3=748;refseq.mrnaCoord_4=621;refseq.mrnaCoord_5=753;refseq.name2_1=PRNP;refseq.name2_2=PRNP;refseq.name2_3=PRNP;refseq.name2_4=PRNP;refseq.name2_5=PRNP;refseq.name_1=NM_000311;refseq.name_2=NM_001080121;refseq.name_3=NM_001080122;refseq.name_4=NM_001080123;refseq.name_5=NM_183079;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M129V;refseq.proteinCoordStr_2=p.M129V;refseq.proteinCoordStr_3=p.M129V;refseq.proteinCoordStr_4=p.M129V;refseq.proteinCoordStr_5=p.M129V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=395;refseq.spliceDist_2=390;refseq.spliceDist_3=390;refseq.spliceDist_4=395;refseq.spliceDist_5=395;refseq.start_1=4628251;refseq.start_2=4628251;refseq.start_3=4628251;refseq.start_4=4628251;refseq.start_5=4628251;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;set=Intersection GT 0/1 chr20 4653718 . C T 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=204.66;QD=10.77;RankSumP=0.329489;SB=-3.98;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.521C>T;refseq.codonCoord=174;refseq.end=4653718;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=592;refseq.name=NM_012409;refseq.name2=PRND;refseq.positionType=CDS;refseq.proteinCoordStr=p.T174M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=532;refseq.start=4653718;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr20 4718329 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.552A>C;refseq.codingCoordStr_2=c.552A>C;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.end_1=4718329;refseq.end_2=4718329;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=748;refseq.mrnaCoord_2=606;refseq.name2_1=RASSF2;refseq.name2_2=RASSF2;refseq.name_1=NM_014737;refseq.name_2=NM_170774;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T184T;refseq.proteinCoordStr_2=p.T184T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=4718329;refseq.start_2=4718329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr20 4802649 . G A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=293;Dels=0.00;HRun=2;HaplotypeScore=37.31;MQ=97.36;MQ0=0;OQ=325.58;QD=1.11;RankSumP=0.00000;SB=357.23;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1035C>T;refseq.codingCoordStr_2=c.1035C>T;refseq.codonCoord_1=345;refseq.codonCoord_2=345;refseq.end_1=4802649;refseq.end_2=4802649;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1410;refseq.mrnaCoord_2=1428;refseq.name2_1=SLC23A2;refseq.name2_2=SLC23A2;refseq.name_1=NM_005116;refseq.name_2=NM_203327;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F345F;refseq.proteinCoordStr_2=p.F345F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=4802649;refseq.start_2=4802649;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr20 4828308 . G A 223.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=98.44;MQ0=0;OQ=1658.68;QD=14.42;RankSumP=0.289788;SB=-780.22;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.375C>T;refseq.codingCoordStr_2=c.375C>T;refseq.codonCoord_1=125;refseq.codonCoord_2=125;refseq.end_1=4828308;refseq.end_2=4828308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=750;refseq.mrnaCoord_2=768;refseq.name2_1=SLC23A2;refseq.name2_2=SLC23A2;refseq.name_1=NM_005116;refseq.name_2=NM_203327;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A125A;refseq.proteinCoordStr_2=p.A125A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=4828308;refseq.start_2=4828308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/0 chr20 5034939 . A T 70.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=2;HaplotypeScore=0.92;MQ=94.00;MQ0=0;OQ=7137.61;QD=38.79;RankSumP=1.00000;SB=-2501.20;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.306T>A;refseq.codingCoordStr_2=c.117T>A;refseq.codingCoordStr_3=c.117T>A;refseq.codingCoordStr_4=c.117T>A;refseq.codonCoord_1=102;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.codonCoord_4=39;refseq.end_1=5034939;refseq.end_2=5034939;refseq.end_3=5034939;refseq.end_4=5034939;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=365;refseq.mrnaCoord_2=583;refseq.mrnaCoord_3=259;refseq.mrnaCoord_4=490;refseq.name2_1=C20orf30;refseq.name2_2=C20orf30;refseq.name2_3=C20orf30;refseq.name2_4=C20orf30;refseq.name_1=NM_001009923;refseq.name_2=NM_001009924;refseq.name_3=NM_001009925;refseq.name_4=NM_014145;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P102P;refseq.proteinCoordStr_2=p.P39P;refseq.proteinCoordStr_3=p.P39P;refseq.proteinCoordStr_4=p.P39P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.spliceDist_3=18;refseq.spliceDist_4=18;refseq.start_1=5034939;refseq.start_2=5034939;refseq.start_3=5034939;refseq.start_4=5034939;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;set=Intersection GT 1/1 chr20 5102237 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=270;Dels=0.00;HRun=4;HaplotypeScore=38.38;MQ=98.22;MQ0=0;OQ=248.53;QD=0.92;RankSumP=0.00000;SB=327.03;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.126A>C;refseq.codonCoord=42;refseq.end=5102237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=383;refseq.name=NM_003818;refseq.name2=CDS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A42A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-69;refseq.start=5102237;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr20 5105344 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.342C>A;refseq.codonCoord=114;refseq.end=5105344;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=599;refseq.name=NM_003818;refseq.name2=CDS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y114*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-48;refseq.start=5105344;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chr20 5231256 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=1;HaplotypeScore=8.80;MQ=98.46;MQ0=0;OQ=4934.63;QD=21.83;RankSumP=0.310312;SB=-830.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.585G>C;refseq.codonCoord=195;refseq.end=5231256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=585;refseq.name=NM_144773;refseq.name2=PROKR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T195T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=127;refseq.start=5231256;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr20 5231316 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.89;MQ0=0;OQ=1134.29;QD=19.23;RankSumP=0.702872;SB=-91.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.525C>G;refseq.codonCoord=175;refseq.end=5231316;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=525;refseq.name=NM_144773;refseq.name2=PROKR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A175A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=67;refseq.start=5231316;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr20 5701579 . C T 173.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=8.74;MQ=97.96;MQ0=0;OQ=2930.57;QD=13.26;RankSumP=0.121613;SB=-1000.42;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.68C>T;refseq.codonCoord=23;refseq.end=5701579;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_152504;refseq.name2=C20orf196;refseq.positionType=CDS;refseq.proteinCoordStr=p.A23V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=72;refseq.start=5701579;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr20 5791812 . T C 156.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=220;Dels=0.00;HRun=1;HaplotypeScore=10.92;MQ=98.07;MQ0=0;OQ=4203.70;QD=19.11;RankSumP=0.217787;SB=-1587.41;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.321T>C;refseq.codonCoord=107;refseq.end=5791812;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_152504;refseq.name2=C20orf196;refseq.positionType=CDS;refseq.proteinCoordStr=p.G107G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=143;refseq.start=5791812;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr20 5851067 . T A 268.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=98.60;MQ0=0;OQ=4578.49;QD=19.57;RankSumP=0.360572;SB=-1784.42;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.277T>A;refseq.codonCoord=93;refseq.end=5851067;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=583;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.S93T;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=87;refseq.start=5851067;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr20 5851323 . G A 145.21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.87;MQ0=0;OQ=1451.22;QD=18.61;RankSumP=0.287902;SB=-661.13;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.533G>A;refseq.codonCoord=178;refseq.end=5851323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=839;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R178Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=343;refseq.start=5851323;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr20 5851517 . A G 242.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1103.78;QD=38.06;RankSumP=1.00000;SB=-386.65;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.727A>G;refseq.codonCoord=243;refseq.end=5851517;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T243A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=537;refseq.start=5851517;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr20 5851848 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=106;Dels=0.00;HRun=2;HaplotypeScore=4.60;MQ=99.00;MQ0=0;OQ=1998.89;QD=18.86;RankSumP=0.447923;SB=-784.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1058C>G;refseq.codonCoord=353;refseq.end=5851848;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1364;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A353G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=868;refseq.start=5851848;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr20 5851894 . A G 144.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=1335.90;QD=15.53;RankSumP=0.165137;SB=-620.88;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1104A>G;refseq.codonCoord=368;refseq.end=5851894;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1410;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E368E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-853;refseq.start=5851894;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr20 5852040 . G A 259.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.64;MQ0=0;OQ=1876.61;QD=15.77;RankSumP=0.00821264;SB=-737.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1250G>A;refseq.codonCoord=417;refseq.end=5852040;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1556;refseq.name=NM_001819;refseq.name2=CHGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R417H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-707;refseq.start=5852040;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/0 chr20 5871203 . T C 114.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.57;MQ0=0;OQ=2707.38;QD=14.10;RankSumP=0.381555;SB=-1374.82;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.897A>G;refseq.codonCoord=299;refseq.end=5871203;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_015939;refseq.name2=TRMT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E299E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-130;refseq.start=5871203;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr20 5871204 . T C 191.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=98.57;MQ0=0;OQ=2764.75;QD=14.40;RankSumP=0.151616;SB=-1391.44;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.896A>G;refseq.codonCoord=299;refseq.end=5871204;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1018;refseq.name=NM_015939;refseq.name2=TRMT6;refseq.positionType=CDS;refseq.proteinCoordStr=p.E299G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-131;refseq.start=5871204;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chr20 5881108 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=514;Dels=0.00;HRun=1;HaplotypeScore=5.06;MQ=98.86;MQ0=0;OQ=8221.13;QD=15.99;RankSumP=0.449316;SB=-2688.74;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.187C>A;refseq.codingCoordStr_2=c.187C>A;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.end_1=5881108;refseq.end_2=5881108;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=564;refseq.mrnaCoord_2=618;refseq.name2_1=MCM8;refseq.name2_2=MCM8;refseq.name_1=NM_032485;refseq.name_2=NM_182802;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q63K;refseq.proteinCoordStr_2=p.Q63K;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=5881108;refseq.start_2=5881108;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/0 chr20 5896171 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.965G>A;refseq.codingCoordStr_2=c.965G>A;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.end_1=5896171;refseq.end_2=5896171;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1342;refseq.mrnaCoord_2=1396;refseq.name2_1=MCM8;refseq.name2_2=MCM8;refseq.name_1=NM_032485;refseq.name_2=NM_182802;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S322N;refseq.proteinCoordStr_2=p.S322N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.start_1=5896171;refseq.start_2=5896171;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr20 5896172 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.966C>A;refseq.codingCoordStr_2=c.966C>A;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.end_1=5896172;refseq.end_2=5896172;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=1397;refseq.name2_1=MCM8;refseq.name2_2=MCM8;refseq.name_1=NM_032485;refseq.name_2=NM_182802;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S322R;refseq.proteinCoordStr_2=p.S322R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=5896172;refseq.start_2=5896172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=FilteredInAll GT 1/0 chr20 6699034 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=2;HaplotypeScore=6.51;MQ=96.51;MQ0=0;OQ=1021.61;QD=10.87;RankSumP=0.0323502;SB=-382.93;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.261A>G;refseq.codonCoord=87;refseq.end=6699034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1046;refseq.name=NM_001200;refseq.name2=BMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S87S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-86;refseq.start=6699034;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr20 6707115 . A T 362.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=98.87;MQ0=0;OQ=4477.55;QD=19.05;RankSumP=0.0570343;SB=-1624.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.570A>T;refseq.codonCoord=190;refseq.end=6707115;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1355;refseq.name=NM_001200;refseq.name2=BMP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R190S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=224;refseq.start=6707115;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr20 8661940 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1944C>A;refseq.codingCoordStr_2=c.1944C>A;refseq.codonCoord_1=648;refseq.codonCoord_2=648;refseq.end_1=8661940;refseq.end_2=8661940;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1947;refseq.mrnaCoord_2=1947;refseq.name2_1=PLCB1;refseq.name2_2=PLCB1;refseq.name_1=NM_015192;refseq.name_2=NM_182734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y648*;refseq.proteinCoordStr_2=p.Y648*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=8661940;refseq.start_2=8661940;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 1/0 chr20 8703243 . T C 173.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=3.14;MQ=98.88;MQ0=0;OQ=2235.99;QD=14.06;RankSumP=0.298138;SB=-951.04;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2988T>C;refseq.codingCoordStr_2=c.2988T>C;refseq.codonCoord_1=996;refseq.codonCoord_2=996;refseq.end_1=8703243;refseq.end_2=8703243;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2991;refseq.mrnaCoord_2=2991;refseq.name2_1=PLCB1;refseq.name2_2=PLCB1;refseq.name_1=NM_015192;refseq.name_2=NM_182734;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A996A;refseq.proteinCoordStr_2=p.A996A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=8703243;refseq.start_2=8703243;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr20 9236522 . G A 190.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=98.90;MQ0=0;OQ=2341.28;QD=17.47;RankSumP=0.354556;SB=-821.60;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.61G>A;refseq.codingCoordStr_2=c.61G>A;refseq.codingCoordStr_3=c.61G>A;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.codonCoord_3=21;refseq.end_1=9236522;refseq.end_2=9236522;refseq.end_3=9236522;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=76;refseq.mrnaCoord_2=292;refseq.mrnaCoord_3=139;refseq.name2_1=PLCB4;refseq.name2_2=PLCB4;refseq.name2_3=PLCB4;refseq.name_1=NM_000933;refseq.name_2=NM_001172646;refseq.name_3=NM_182797;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A21T;refseq.proteinCoordStr_2=p.A21T;refseq.proteinCoordStr_3=p.A21T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.start_1=9236522;refseq.start_2=9236522;refseq.start_3=9236522;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;set=Intersection GT 1/0 chr20 9444716 . C G 180.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=98.87;MQ0=0;OQ=959.93;QD=14.33;RankSumP=0.481431;SB=-420.43;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.307C>G;refseq.codonCoord=103;refseq.end=9444716;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_012261;refseq.name2=C20orf103;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q103E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-63;refseq.start=9444716;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr20 9491622 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=723;Dels=0.00;HRun=1;HaplotypeScore=20.88;MQ=98.76;MQ0=0;OQ=14741.52;QD=20.39;RankSumP=0.0293720;SB=-6225.58;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1532G>A;refseq.codingCoordStr_2=c.1532G>A;refseq.codonCoord_1=511;refseq.codonCoord_2=511;refseq.end_1=9491622;refseq.end_2=9491622;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2077;refseq.mrnaCoord_2=1971;refseq.name2_1=PAK7;refseq.name2_2=PAK7;refseq.name_1=NM_020341;refseq.name_2=NM_177990;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S511N;refseq.proteinCoordStr_2=p.S511N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=9491622;refseq.start_2=9491622;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr20 9967093 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=387;Dels=0.00;HRun=2;HaplotypeScore=7.27;MQ=98.97;MQ0=0;OQ=6912.42;QD=17.86;RankSumP=0.0515988;SB=-2665.58;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.144A>G;refseq.codingCoordStr_2=c.144A>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=9967093;refseq.end_2=9967093;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=537;refseq.mrnaCoord_2=473;refseq.name2_1=ANKRD5;refseq.name2_2=ANKRD5;refseq.name_1=NM_022096;refseq.name_2=NM_198798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G48G;refseq.proteinCoordStr_2=p.G48G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=188;refseq.spliceDist_2=188;refseq.start_1=9967093;refseq.start_2=9967093;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr20 9978188 . T A 132.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=98.80;MQ0=0;OQ=1166.43;QD=13.56;RankSumP=0.489786;SB=-448.09;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.971T>A;refseq.codingCoordStr_2=c.971T>A;refseq.codonCoord_1=324;refseq.codonCoord_2=324;refseq.end_1=9978188;refseq.end_2=9978188;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1364;refseq.mrnaCoord_2=1300;refseq.name2_1=ANKRD5;refseq.name2_2=ANKRD5;refseq.name_1=NM_022096;refseq.name_2=NM_198798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L324Q;refseq.proteinCoordStr_2=p.L324Q;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=151;refseq.spliceDist_2=151;refseq.start_1=9978188;refseq.start_2=9978188;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr20 9980413 . T G 275.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=98.57;MQ0=0;OQ=3009.40;QD=17.50;RankSumP=0.302755;SB=-593.70;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1746T>G;refseq.codingCoordStr_2=c.1746T>G;refseq.codonCoord_1=582;refseq.codonCoord_2=582;refseq.end_1=9980413;refseq.end_2=9980413;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2139;refseq.mrnaCoord_2=2075;refseq.name2_1=ANKRD5;refseq.name2_2=ANKRD5;refseq.name_1=NM_022096;refseq.name_2=NM_198798;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A582A;refseq.proteinCoordStr_2=p.A582A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.start_1=9980413;refseq.start_2=9980413;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr20 10341680 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.483A>C;refseq.codingCoordStr_2=c.483A>C;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=10341680;refseq.end_2=10341680;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1370;refseq.mrnaCoord_2=1242;refseq.name2_1=MKKS;refseq.name2_2=MKKS;refseq.name_1=NM_018848;refseq.name_2=NM_170784;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K161N;refseq.proteinCoordStr_2=p.K161N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-503;refseq.spliceDist_2=-503;refseq.start_1=10341680;refseq.start_2=10341680;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 1/0 chr20 10551326 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.84;MQ0=0;OQ=2472.31;QD=22.89;RankSumP=0.369799;SB=-961.36;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.526A>G;refseq.codonCoord=176;refseq.end=10551326;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=706;refseq.name=NM_001009608;refseq.name2=C20orf94;refseq.positionType=CDS;refseq.proteinCoordStr=p.K176E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=20;refseq.start=10551326;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 10551750 . G A 130.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.55;MQ0=0;OQ=1097.18;QD=17.70;RankSumP=0.429535;SB=-513.01;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.950G>A;refseq.codonCoord=317;refseq.end=10551750;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_001009608;refseq.name2=C20orf94;refseq.positionType=CDS;refseq.proteinCoordStr=p.R317Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-278;refseq.start=10551750;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr20 10568386 . A G 272.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.91;MQ0=0;OQ=3201.48;QD=15.85;RankSumP=0.328479;SB=-1106.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3417T>C;refseq.codonCoord=1139;refseq.end=10568386;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3933;refseq.name=NM_000214;refseq.name2=JAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1139Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=218;refseq.start=10568386;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr20 10570469 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2644A>C;refseq.codonCoord=882;refseq.end=10570469;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3160;refseq.name=NM_000214;refseq.name2=JAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T882P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-39;refseq.start=10570469;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 10574016 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2101A>C;refseq.codonCoord=701;refseq.end=10574016;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2617;refseq.name=NM_000214;refseq.name2=JAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T701P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=10574016;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 10581237 . G A 198.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.30;MQ0=0;OQ=3899.53;QD=21.91;RankSumP=0.359472;SB=-1572.68;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.765C>T;refseq.codonCoord=255;refseq.end=10581237;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_000214;refseq.name2=JAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y255Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=10581237;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr20 12977764 . A C 236.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=270;Dels=0.00;HRun=0;HaplotypeScore=11.65;MQ=98.63;MQ0=0;OQ=9688.77;QD=35.88;RankSumP=1.00000;SB=-3606.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.289A>C;refseq.codonCoord=97;refseq.end=12977764;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=578;refseq.name=NM_018327;refseq.name2=SPTLC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R97R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-15;refseq.start=12977764;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr20 13001018 . T G 434.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=4672.08;QD=41.35;RankSumP=1.00000;SB=-2194.32;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.418T>G;refseq.codonCoord=140;refseq.end=13001018;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=707;refseq.name=NM_018327;refseq.name2=SPTLC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L140V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-41;refseq.start=13001018;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr20 13001035 . A G 289.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.38;MQ0=0;OQ=4312.32;QD=37.83;RankSumP=1.00000;SB=-1736.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.435A>G;refseq.codonCoord=145;refseq.end=13001035;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_018327;refseq.name2=SPTLC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S145S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-24;refseq.start=13001035;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr20 13457135 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=3.26674e-08;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.819C>G;refseq.codonCoord=273;refseq.end=13457135;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=936;refseq.name=NM_017714;refseq.name2=TASP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C273W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=24;refseq.start=13457135;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr20 13643607 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=2;HaplotypeScore=3.00;MQ=98.89;MQ0=0;OQ=5140.87;QD=20.65;RankSumP=0.361317;SB=-785.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2470A>C;refseq.codonCoord=824;refseq.end=13643607;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2578;refseq.name=NM_016649;refseq.name2=ESF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I824L;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=208;refseq.start=13643607;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr20 13695441 . A G 278.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.35;MQ0=0;OQ=2860.55;QD=18.22;RankSumP=0.200368;SB=-1244.86;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1649T>C;refseq.codonCoord=550;refseq.end=13695441;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1757;refseq.name=NM_016649;refseq.name2=ESF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I550T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-18;refseq.start=13695441;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr20 13778137 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1724.28;QD=16.11;RankSumP=0.226812;SB=-745.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2061T>G;refseq.codonCoord=687;refseq.end=13778137;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_025229;refseq.name2=SEL1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H687Q;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-88;refseq.start=13778137;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr20 13795420 . A G 188.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=9.23;MQ=98.78;MQ0=0;OQ=11551.13;QD=38.89;RankSumP=1.00000;SB=-3369.36;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1332T>C;refseq.codonCoord=444;refseq.end=13795420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1414;refseq.name=NM_025229;refseq.name2=SEL1L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L444L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-73;refseq.start=13795420;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr20 14254953 . G T 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=869;Dels=0.00;HRun=1;HaplotypeScore=14.21;MQ=98.84;MQ0=0;OQ=34059.77;QD=39.19;RankSumP=1.00000;SB=-14857.17;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_2=c.1200C>A;refseq.codingCoordStr_3=c.1200C>A;refseq.codonCoord_2=400;refseq.codonCoord_3=400;refseq.end_1=14422114;refseq.end_2=14254953;refseq.end_3=14254953;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1463;refseq.mrnaCoord_3=1667;refseq.name2_1=MACROD2;refseq.name2_2=FLRT3;refseq.name2_3=FLRT3;refseq.name_1=NM_080676;refseq.name_2=NM_013281;refseq.name_3=NM_198391;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H400Q;refseq.proteinCoordStr_3=p.H400Q;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.spliceDist_2=1252;refseq.spliceDist_3=1252;refseq.start_1=14014385;refseq.start_2=14254953;refseq.start_3=14254953;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;set=Intersection GT 1/1 chr20 15915390 . C T 156.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=98.42;MQ0=0;OQ=1459.55;QD=16.40;RankSumP=0.437345;SB=-484.40;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.299C>T;refseq.codingCoordStr_2=c.1004C>T;refseq.codonCoord_1=100;refseq.codonCoord_2=335;refseq.end_1=15915390;refseq.end_2=15915390;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=761;refseq.mrnaCoord_2=1268;refseq.name2_1=MACROD2;refseq.name2_2=MACROD2;refseq.name_1=NM_001033087;refseq.name_2=NM_080676;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T100M;refseq.proteinCoordStr_2=p.T335M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=15915390;refseq.start_2=15915390;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr20 16307567 . A G 310.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=99.00;MQ0=0;OQ=4310.58;QD=17.11;RankSumP=0.377683;SB=-1605.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3080T>C;refseq.codonCoord=1027;refseq.end=16307567;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3238;refseq.name=NM_024704;refseq.name2=KIF16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1027T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-118;refseq.start=16307567;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr20 16307650 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=336;Dels=0.00;HRun=2;HaplotypeScore=11.83;MQ=98.93;MQ0=0;OQ=6549.05;QD=19.49;RankSumP=0.147181;SB=-2117.26;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2997G>A;refseq.codonCoord=999;refseq.end=16307650;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3155;refseq.name=NM_024704;refseq.name2=KIF16B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K999K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-201;refseq.start=16307650;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr20 17410235 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1437A>C;refseq.codonCoord=479;refseq.end=17410235;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1757;refseq.name=NM_002594;refseq.name2=PCSK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I479I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=17410235;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 0/1 chr20 17422791 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=710;Dels=0.00;HRun=0;HaplotypeScore=6.85;MQ=98.80;MQ0=0;OQ=13901.26;QD=19.58;RankSumP=0.372773;SB=-5843.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1551C>T;refseq.codingCoordStr_2=c.1926C>T;refseq.codonCoord_1=517;refseq.codonCoord_2=642;refseq.end_1=17422791;refseq.end_2=17422791;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1822;refseq.mrnaCoord_2=1965;refseq.name2_1=BFSP1;refseq.name2_2=BFSP1;refseq.name_1=NM_001161705;refseq.name_2=NM_001195;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T517T;refseq.proteinCoordStr_2=p.T642T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-241;refseq.spliceDist_2=-241;refseq.start_1=17422791;refseq.start_2=17422791;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr20 17422968 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=641;Dels=0.00;HRun=0;HaplotypeScore=35.68;MQ=98.91;MQ0=0;OQ=10576.31;QD=16.50;RankSumP=0.0258403;SB=-3530.12;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1374A>G;refseq.codingCoordStr_2=c.1749A>G;refseq.codonCoord_1=458;refseq.codonCoord_2=583;refseq.end_1=17422968;refseq.end_2=17422968;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1645;refseq.mrnaCoord_2=1788;refseq.name2_1=BFSP1;refseq.name2_2=BFSP1;refseq.name_1=NM_001161705;refseq.name_2=NM_001195;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P458P;refseq.proteinCoordStr_2=p.P583P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-418;refseq.spliceDist_2=-418;refseq.start_1=17422968;refseq.start_2=17422968;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/0 chr20 17548357 . G A 144.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=7.18;MQ=98.79;MQ0=0;OQ=6630.09;QD=36.23;RankSumP=1.00000;SB=-1829.74;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2297C>T;refseq.codingCoordStr_2=c.2297C>T;refseq.codonCoord_1=766;refseq.codonCoord_2=766;refseq.end_1=17548357;refseq.end_2=17548357;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2651;refseq.mrnaCoord_2=2574;refseq.name2_1=RRBP1;refseq.name2_2=RRBP1;refseq.name_1=NM_001042576;refseq.name_2=NM_004587;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S766L;refseq.proteinCoordStr_2=p.S766L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=17548357;refseq.start_2=17548357;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr20 17553240 . A T 274.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1347.28;QD=34.55;RankSumP=1.00000;SB=-542.46;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1829T>A;refseq.codingCoordStr_2=c.1829T>A;refseq.codonCoord_1=610;refseq.codonCoord_2=610;refseq.end_1=17553240;refseq.end_2=17553240;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2183;refseq.mrnaCoord_2=2106;refseq.name2_1=RRBP1;refseq.name2_2=RRBP1;refseq.name_1=NM_001042576;refseq.name_2=NM_004587;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L610H;refseq.proteinCoordStr_2=p.L610H;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=17553240;refseq.start_2=17553240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/1 chr20 17653677 . A G 326.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1999.44;QD=37.03;RankSumP=1.00000;SB=-372.13;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.7A>G;refseq.codingCoordStr_2=c.28A>G;refseq.codingCoordStr_3=c.7A>G;refseq.codonCoord_1=3;refseq.codonCoord_2=10;refseq.codonCoord_3=3;refseq.end_1=17653677;refseq.end_2=17653677;refseq.end_3=17653677;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=118;refseq.mrnaCoord_2=42;refseq.mrnaCoord_3=281;refseq.name2_1=BANF2;refseq.name2_2=BANF2;refseq.name2_3=BANF2;refseq.name_1=NM_001014977;refseq.name_2=NM_001159495;refseq.name_3=NM_178477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N3D;refseq.proteinCoordStr_2=p.N10D;refseq.proteinCoordStr_3=p.N3D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=17653677;refseq.start_2=17653677;refseq.start_3=17653677;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;set=Intersection GT 1/1 chr20 17664416 . C G 353.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=98.95;MQ0=0;OQ=5925.59;QD=20.65;RankSumP=0.475205;SB=-2363.54;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.233C>G;refseq.codingCoordStr_2=c.254C>G;refseq.codingCoordStr_3=c.233C>G;refseq.codonCoord_1=78;refseq.codonCoord_2=85;refseq.codonCoord_3=78;refseq.end_1=17664416;refseq.end_2=17664416;refseq.end_3=17664416;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=344;refseq.mrnaCoord_2=268;refseq.mrnaCoord_3=507;refseq.name2_1=BANF2;refseq.name2_2=BANF2;refseq.name2_3=BANF2;refseq.name_1=NM_001014977;refseq.name_2=NM_001159495;refseq.name_3=NM_178477;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T78S;refseq.proteinCoordStr_2=p.T85S;refseq.proteinCoordStr_3=p.T78S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.start_1=17664416;refseq.start_2=17664416;refseq.start_3=17664416;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr20 17898545 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.91;MQ0=0;OQ=2261.23;QD=11.36;RankSumP=0.0194996;SB=-1135.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.43A>T;refseq.codonCoord=15;refseq.end=17898545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_052865;refseq.name2=C20orf72;refseq.positionType=CDS;refseq.proteinCoordStr=p.S15C;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=102;refseq.start=17898545;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr20 17970362 . G T 99.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=5.78;MQ=98.60;MQ0=0;OQ=1806.61;QD=13.19;RankSumP=0.258613;SB=-472.94;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.327C>A;refseq.codonCoord=109;refseq.end=17970362;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=570;refseq.name=NM_021220;refseq.name2=OVOL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T109T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=17970362;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr20 18071556 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=142;Dels=0.00;HRun=2;HaplotypeScore=5.65;MQ=98.45;MQ0=0;OQ=106.49;QD=0.75;RankSumP=0.00000;SB=74.26;SecondBestBaseQ=10;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.*555A>C;refseq.codingCoordStr_2=c.252A>C;refseq.codonCoord_2=84;refseq.end_1=18071556;refseq.end_2=18071556;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=902;refseq.mrnaCoord_2=689;refseq.name2_1=PET117;refseq.name2_2=CSRP2BP;refseq.name_1=NM_001164811;refseq.name_2=NM_020536;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I84I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATA;refseq.spliceDist_1=-255;refseq.spliceDist_2=-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=18071556;refseq.start_2=18071556;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=FilteredInAll GT 0/1 chr20 18090798 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1017A>C;refseq.codonCoord_2=339;refseq.end_1=18090798;refseq.end_2=18090798;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=892;refseq.mrnaCoord_2=1454;refseq.name2_1=CSRP2BP;refseq.name2_2=CSRP2BP;refseq.name_1=NR_028402;refseq.name_2=NM_020536;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T339T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.start_1=18090798;refseq.start_2=18090798;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr20 18091117 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=4;HaplotypeScore=1.46;MQ=99.00;MQ0=0;OQ=2308.66;QD=17.36;RankSumP=0.00344544;SB=-1011.60;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1199T>G;refseq.codonCoord_2=400;refseq.end_1=18091117;refseq.end_2=18091117;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1074;refseq.mrnaCoord_2=1636;refseq.name2_1=CSRP2BP;refseq.name2_2=CSRP2BP;refseq.name_1=NR_028402;refseq.name_2=NM_020536;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V400G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=97;refseq.spliceDist_2=97;refseq.start_1=18091117;refseq.start_2=18091117;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGC;set=filterInsoap-gatk GT 1/0 chr20 18110436 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.1754T>G;refseq.codonCoord_2=585;refseq.end_1=18110436;refseq.end_2=18110436;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1629;refseq.mrnaCoord_2=2191;refseq.name2_1=CSRP2BP;refseq.name2_2=CSRP2BP;refseq.name_1=NR_028402;refseq.name_2=NM_020536;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V585G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=18110436;refseq.start_2=18110436;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr20 18115977 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=98.93;MQ0=0;OQ=2102.73;QD=15.46;RankSumP=0.389231;SB=-602.70;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.2223T>C;refseq.codonCoord_2=741;refseq.end_1=18115977;refseq.end_2=18115977;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2098;refseq.mrnaCoord_2=2660;refseq.name2_1=CSRP2BP;refseq.name2_2=CSRP2BP;refseq.name_1=NR_028402;refseq.name_2=NM_020536;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P741P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=48;refseq.spliceDist_2=48;refseq.start_1=18115977;refseq.start_2=18115977;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr20 18243861 . G A 247.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=99.00;MQ0=0;OQ=2004.02;QD=18.39;RankSumP=0.382830;SB=-390.10;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.363G>A;refseq.codingCoordStr_2=c.363G>A;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=18243861;refseq.end_2=18243861;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=510;refseq.mrnaCoord_2=922;refseq.name2_1=ZNF133;refseq.name2_2=ZNF133;refseq.name_1=NM_001083330;refseq.name_2=NM_003434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P121P;refseq.proteinCoordStr_2=p.P121P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=146;refseq.spliceDist_2=146;refseq.start_1=18243861;refseq.start_2=18243861;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/0 chr20 18244072 . T A 412.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=98.60;MQ0=0;OQ=4129.77;QD=39.71;RankSumP=1.00000;SB=-1568.61;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.574T>A;refseq.codingCoordStr_2=c.574T>A;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=18244072;refseq.end_2=18244072;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=1133;refseq.name2_1=ZNF133;refseq.name2_2=ZNF133;refseq.name_1=NM_001083330;refseq.name_2=NM_003434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S192T;refseq.proteinCoordStr_2=p.S192T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=357;refseq.spliceDist_2=357;refseq.start_1=18244072;refseq.start_2=18244072;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chr20 18244473 . C T 298.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=14.60;MQ=98.81;MQ0=0;OQ=6818.18;QD=20.79;RankSumP=0.345593;SB=-2679.58;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.975C>T;refseq.codingCoordStr_2=c.975C>T;refseq.codonCoord_1=325;refseq.codonCoord_2=325;refseq.end_1=18244473;refseq.end_2=18244473;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1122;refseq.mrnaCoord_2=1534;refseq.name2_1=ZNF133;refseq.name2_2=ZNF133;refseq.name_1=NM_001083330;refseq.name_2=NM_003434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y325Y;refseq.proteinCoordStr_2=p.Y325Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=758;refseq.spliceDist_2=758;refseq.start_1=18244473;refseq.start_2=18244473;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr20 18245193 . T C 295.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=98.57;MQ0=0;OQ=4173.81;QD=21.74;RankSumP=0.244336;SB=-1508.90;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1695T>C;refseq.codingCoordStr_2=c.1695T>C;refseq.codonCoord_1=565;refseq.codonCoord_2=565;refseq.end_1=18245193;refseq.end_2=18245193;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1842;refseq.mrnaCoord_2=2254;refseq.name2_1=ZNF133;refseq.name2_2=ZNF133;refseq.name_1=NM_001083330;refseq.name_2=NM_003434;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I565I;refseq.proteinCoordStr_2=p.I565I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-448;refseq.spliceDist_2=-448;refseq.start_1=18245193;refseq.start_2=18245193;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr20 18410421 . A G 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1428.30;QD=38.60;RankSumP=1.00000;SB=-87.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.840A>G;refseq.codonCoord=280;refseq.end=18410421;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=958;refseq.name=NM_006466;refseq.name2=POLR3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.T280T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-34;refseq.start=18410421;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr20 18425732 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.80T>G;refseq.codonCoord=27;refseq.end=18425732;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=156;refseq.name=NM_006606;refseq.name2=RBBP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.V27G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-20;refseq.start=18425732;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 18742714 . C T 274.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=98.94;MQ0=0;OQ=2925.19;QD=15.64;RankSumP=0.0501646;SB=-1217.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.255C>T;refseq.codonCoord=85;refseq.end=18742714;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=345;refseq.name=NM_178483;refseq.name2=C20orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.T85T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-322;refseq.start=18742714;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr20 18742754 . C T 231.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=98.79;MQ0=0;OQ=2067.33;QD=14.36;RankSumP=0.0172390;SB=-976.93;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.295C>T;refseq.codonCoord=99;refseq.end=18742754;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=385;refseq.name=NM_178483;refseq.name2=C20orf79;refseq.positionType=CDS;refseq.proteinCoordStr=p.P99S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-282;refseq.start=18742754;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr20 19209623 . G A 226.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.46;MQ0=0;OQ=2721.14;QD=17.79;RankSumP=0.264829;SB=-434.42;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.163G>A;refseq.codonCoord_2=55;refseq.end_1=19211772;refseq.end_2=19209623;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=360;refseq.name2_1=LOC100130264;refseq.name2_2=SLC24A3;refseq.name_1=NR_024564;refseq.name_2=NM_020689;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V55I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTA;refseq.spliceDist_2=21;refseq.start_1=19194654;refseq.start_2=19209623;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr20 19508664 . G A 176.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=489;Dels=0.00;HRun=0;HaplotypeScore=16.04;MQ=98.42;MQ0=0;OQ=10946.48;QD=22.39;RankSumP=0.0348332;SB=-3964.61;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.369G>A;refseq.codonCoord=123;refseq.end=19508664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_020689;refseq.name2=SLC24A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A123A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=21;refseq.start=19508664;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr20 19513671 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=81.51;MQ=97.61;MQ0=0;OQ=5166.21;QD=13.93;RankSumP=0.164794;SB=-454.81;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.480G>A;refseq.codonCoord=160;refseq.end=19513671;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=677;refseq.name=NM_020689;refseq.name2=SLC24A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S160S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-29;refseq.start=19513671;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=soap-filterIngatk GT 1/0 chr20 19582732 . G A 288.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=458;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=98.96;MQ0=0;OQ=9468.83;QD=20.67;RankSumP=0.201637;SB=-3214.80;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.639G>A;refseq.codonCoord=213;refseq.end=19582732;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=836;refseq.name=NM_020689;refseq.name2=SLC24A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L213L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=27;refseq.start=19582732;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr20 19582747 . T C 144.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=511;Dels=0.00;HRun=0;HaplotypeScore=18.21;MQ=98.95;MQ0=0;OQ=10495.94;QD=20.54;RankSumP=0.281196;SB=-4286.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.654T>C;refseq.codonCoord=218;refseq.end=19582747;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=851;refseq.name=NM_020689;refseq.name2=SLC24A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I218I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-34;refseq.start=19582747;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr20 19612921 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1003A>C;refseq.codonCoord=335;refseq.end=19612921;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_020689;refseq.name2=SLC24A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T335P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-60;refseq.start=19612921;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 19980998 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=13.45;MQ=98.39;MQ0=0;OQ=1340.47;QD=9.93;RankSumP=0.424369;SB=-582.81;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.472A>G;refseq.codonCoord=158;refseq.end=19980998;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=504;refseq.name=NM_016652;refseq.name2=CRNKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T158A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-63;refseq.start=19980998;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 19981137 . T A 355.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=8.02;MQ=98.76;MQ0=0;OQ=7000.80;QD=19.56;RankSumP=0.0585728;SB=-2652.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.333A>T;refseq.codonCoord=111;refseq.end=19981137;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=365;refseq.name=NM_016652;refseq.name2=CRNKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q111H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-202;refseq.start=19981137;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr20 19981242 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=6.41;MQ=98.55;MQ0=0;OQ=1495.05;QD=13.23;RankSumP=0.382752;SB=-264.33;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.-37+7;refseq.codingCoordStr_2=c.228T>A;refseq.codonCoord_2=76;refseq.end_1=19981242;refseq.end_2=19981242;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=260;refseq.name2_1=C20orf26;refseq.name2_2=CRNKL1;refseq.name_1=NM_015585;refseq.name_2=NM_016652;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V76V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=7;refseq.spliceDist_2=161;refseq.spliceInfo_1=splice-donor_7;refseq.start_1=19981242;refseq.start_2=19981242;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTA;set=Intersection GT 0/1 chr20 19981319 . A G 200.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.79;MQ0=0;OQ=882.89;QD=16.35;RankSumP=0.383507;SB=-313.63;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.151T>C;refseq.codonCoord_2=51;refseq.end_1=19985251;refseq.end_2=19981319;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=183;refseq.name2_1=C20orf26;refseq.name2_2=CRNKL1;refseq.name_1=NM_015585;refseq.name_2=NM_016652;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F51L;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_2=84;refseq.start_1=19981246;refseq.start_2=19981319;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chr20 19981367 . C G 103.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.63;MQ0=0;OQ=992.82;QD=15.51;RankSumP=0.139122;SB=-341.06;SecondBestBaseQ=21;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.103G>C;refseq.codonCoord_2=35;refseq.end_1=19985251;refseq.end_2=19981367;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=135;refseq.name2_1=C20orf26;refseq.name2_2=CRNKL1;refseq.name_1=NM_015585;refseq.name_2=NM_016652;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G35R;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGG;refseq.spliceDist_2=36;refseq.start_1=19981246;refseq.start_2=19981367;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/0 chr20 19981380 . A G 62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=98.79;MQ0=0;OQ=785.68;QD=13.78;RankSumP=0.464015;SB=-213.61;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.90T>C;refseq.codonCoord_2=30;refseq.end_1=19985251;refseq.end_2=19981380;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=122;refseq.name2_1=C20orf26;refseq.name2_2=CRNKL1;refseq.name_1=NM_015585;refseq.name_2=NM_016652;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S30S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=23;refseq.start_1=19981246;refseq.start_2=19981380;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr20 20092772 . G A 249.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=5.54;MQ=98.47;MQ0=0;OQ=8529.10;QD=20.21;RankSumP=0.443602;SB=-3628.81;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1105G>A;refseq.codingCoordStr_2=c.1105G>A;refseq.codonCoord_1=369;refseq.codonCoord_2=369;refseq.end_1=20092772;refseq.end_2=20092772;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1113;refseq.mrnaCoord_2=1219;refseq.name2_1=C20orf26;refseq.name2_2=C20orf26;refseq.name_1=NM_001167816;refseq.name_2=NM_015585;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V369I;refseq.proteinCoordStr_2=p.V369I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.start_1=20092772;refseq.start_2=20092772;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr20 20205958 . C T 243.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=98.41;MQ0=0;OQ=1226.51;QD=19.16;RankSumP=0.165996;SB=-469.02;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2652C>T;refseq.codonCoord=884;refseq.end=20205958;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2766;refseq.name=NM_015585;refseq.name2=C20orf26;refseq.positionType=CDS;refseq.proteinCoordStr=p.S884S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-145;refseq.start=20205958;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr20 21635344 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=2;HaplotypeScore=1.85;MQ=98.29;MQ0=0;OQ=1516.99;QD=15.48;RankSumP=0.0631098;SB=-460.75;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.555G>A;refseq.codonCoord=185;refseq.end=21635344;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_006192;refseq.name2=PAX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K185K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=269;refseq.start=21635344;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr20 22510674 . T C 133.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=5.10;MQ=98.58;MQ0=0;OQ=4163.93;QD=40.82;RankSumP=1.00000;SB=-799.99;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1206A>G;refseq.codingCoordStr_2=c.1188A>G;refseq.codonCoord_1=402;refseq.codonCoord_2=396;refseq.end_1=22510674;refseq.end_2=22510674;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1391;refseq.mrnaCoord_2=1378;refseq.name2_1=FOXA2;refseq.name2_2=FOXA2;refseq.name_1=NM_021784;refseq.name_2=NM_153675;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q402Q;refseq.proteinCoordStr_2=p.Q396Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-1033;refseq.spliceDist_2=-1033;refseq.start_1=22510674;refseq.start_2=22510674;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr20 22977695 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.000395503;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.447C>G;refseq.codonCoord=149;refseq.end=22977695;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=607;refseq.name=NM_000361;refseq.name2=THBD;refseq.positionType=CDS;refseq.proteinCoordStr=p.S149R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=607;refseq.start=22977695;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 0/1 chr20 23013209 . G A 325.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.46;MQ0=0;OQ=1901.24;QD=35.21;RankSumP=1.00000;SB=-470.10;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1621C>T;refseq.codonCoord=541;refseq.end=23013209;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1769;refseq.name=NM_012072;refseq.name2=CD93;refseq.positionType=CDS;refseq.proteinCoordStr=p.P541S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-314;refseq.start=23013209;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr20 23013335 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1495A>C;refseq.codonCoord=499;refseq.end=23013335;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1643;refseq.name=NM_012072;refseq.name2=CD93;refseq.positionType=CDS;refseq.proteinCoordStr=p.T499P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-440;refseq.start=23013335;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr20 23013342 . A G 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=14.96;MQ=97.56;MQ0=0;OQ=2727.38;QD=29.33;RankSumP=1.00000;SB=-148.83;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1488T>C;refseq.codonCoord=496;refseq.end=23013342;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1636;refseq.name=NM_012072;refseq.name2=CD93;refseq.positionType=CDS;refseq.proteinCoordStr=p.R496R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-447;refseq.start=23013342;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr20 23293844 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.66;MQ0=0;OQ=1242.82;QD=11.95;RankSumP=0.415916;SB=-542.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.824A>C;refseq.codonCoord=275;refseq.end=23293844;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_022482;refseq.name2=GZF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q275P;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-541;refseq.start=23293844;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr20 23372613 . T C 102.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=13.72;MQ=98.53;MQ0=0;OQ=6234.93;QD=18.02;RankSumP=0.0206007;SB=-2119.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.262T>C;refseq.codonCoord=88;refseq.end=23372613;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=508;refseq.name=NM_138283;refseq.name2=CSTL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W88R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=43;refseq.start=23372613;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr20 23420391 . A G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=63;Dels=0.00;HRun=4;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2172.09;QD=34.48;RankSumP=1.00000;SB=-327.13;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.87A>G;refseq.codonCoord=29;refseq.end=23420391;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_005492;refseq.name2=CST8;refseq.positionType=CDS;refseq.proteinCoordStr=p.T29T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-145;refseq.start=23420391;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr20 23494639 . T G 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=650;Dels=0.00;HRun=2;HaplotypeScore=17.46;MQ=92.57;MQ0=0;OQ=26458.92;QD=40.71;RankSumP=1.00000;SB=-9778.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.326A>C;refseq.codonCoord=109;refseq.end=23494639;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_080610;refseq.name2=CST9L;refseq.positionType=CDS;refseq.proteinCoordStr=p.H109P;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-29;refseq.start=23494639;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr20 23534360 . G A 269.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2539.16;QD=41.63;RankSumP=1.00000;SB=-891.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.142C>T;refseq.codonCoord=48;refseq.end=23534360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=251;refseq.name=NM_001008693;refseq.name2=CST9;refseq.positionType=CDS;refseq.proteinCoordStr=p.L48F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-114;refseq.start=23534360;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr20 23563910 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.338A>C;refseq.codonCoord=113;refseq.end=23563910;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_000099;refseq.name2=CST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D113A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-20;refseq.start=23563910;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chr20 23566395 . T C 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=214.78;QD=30.68;RankSumP=1.00000;SB=-52.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.105A>G;refseq.codonCoord=35;refseq.end=23566395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=180;refseq.name=NM_000099;refseq.name2=CST3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L35L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-139;refseq.start=23566395;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr20 23677722 . G T 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=1162;Dels=0.00;HRun=1;HaplotypeScore=39.74;MQ=51.33;MQ0=644;OQ=19270.65;QD=16.58;RankSumP=1.00000;SB=-8861.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.273C>A;refseq.codonCoord=91;refseq.end=23677722;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=344;refseq.name=NM_001898;refseq.name2=CST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R91R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=45;refseq.start=23677722;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr20 23679426 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=104;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=97.94;MQ0=0;OQ=2106.76;QD=20.26;RankSumP=0.290832;SB=-436.88;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.78G>A;refseq.codonCoord=26;refseq.end=23679426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=149;refseq.name=NM_001898;refseq.name2=CST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E26E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=149;refseq.start=23679426;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 23679494 . A G 148.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=570.79;QD=19.68;RankSumP=0.454755;SB=-51.95;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.10T>C;refseq.codonCoord=4;refseq.end=23679494;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=81;refseq.name=NM_001898;refseq.name2=CST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y4H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=81;refseq.start=23679494;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr20 23808178 . A G 453.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.72;MQ0=0;OQ=4315.32;QD=37.85;RankSumP=1.00000;SB=-1762.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.136T>C;refseq.codonCoord=46;refseq.end=23808178;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=203;refseq.name=NM_001900;refseq.name2=CST5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C46R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-96;refseq.start=23808178;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr20 24887590 . G C 133.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=7.31;MQ=98.72;MQ0=0;OQ=8523.81;QD=46.07;RankSumP=1.00000;SB=-3060.62;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.270G>C;refseq.codonCoord=90;refseq.end=24887590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_003650;refseq.name2=CST7;refseq.positionType=CDS;refseq.proteinCoordStr=p.L90L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=27;refseq.start=24887590;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr20 24912558 . T C 134.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=537;Dels=0.00;HRun=0;HaplotypeScore=18.20;MQ=98.86;MQ0=0;OQ=10500.83;QD=19.55;RankSumP=0.265572;SB=-3299.01;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.193A>G;refseq.codonCoord=65;refseq.end=24912558;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_020531;refseq.name2=C20orf3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I65V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-20;refseq.start=24912558;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr20 24986432 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.307T>G;refseq.codonCoord=103;refseq.end=24986432;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1185;refseq.name=NM_032501;refseq.name2=ACSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F103V;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-28;refseq.start=24986432;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr20 24986484 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=238;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=98.75;MQ0=0;OQ=2398.26;QD=10.08;RankSumP=0.300945;SB=-396.51;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.255C>A;refseq.codonCoord=85;refseq.end=24986484;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1133;refseq.name=NM_032501;refseq.name2=ACSS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T85T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-80;refseq.start=24986484;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr20 25135213 . G A 164.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=1;HaplotypeScore=9.15;MQ=98.74;MQ0=0;OQ=12122.60;QD=42.84;RankSumP=1.00000;SB=-5522.97;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.41G>A;refseq.codonCoord_2=14;refseq.end_1=25135701;refseq.end_2=25135213;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=221;refseq.name2_1=ENTPD6;refseq.name2_2=ENTPD6;refseq.name_1=NM_001114089;refseq.name_2=NM_001247;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S14N;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-14;refseq.start_1=25124514;refseq.start_2=25135213;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr20 25141949 . G A 297.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=389;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.45;MQ0=0;OQ=15794.03;QD=40.60;RankSumP=1.00000;SB=-5957.96;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.453G>A;refseq.codingCoordStr_2=c.504G>A;refseq.codonCoord_1=151;refseq.codonCoord_2=168;refseq.end_1=25141949;refseq.end_2=25141949;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=615;refseq.mrnaCoord_2=684;refseq.name2_1=ENTPD6;refseq.name2_2=ENTPD6;refseq.name_1=NM_001114089;refseq.name_2=NM_001247;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P151P;refseq.proteinCoordStr_2=p.P168P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=25141949;refseq.start_2=25141949;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr20 25143509 . A G 411.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.84;MQ0=0;OQ=11152.63;QD=43.06;RankSumP=1.00000;SB=-2778.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.553A>G;refseq.codingCoordStr_2=c.604A>G;refseq.codonCoord_1=185;refseq.codonCoord_2=202;refseq.end_1=25143509;refseq.end_2=25143509;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=715;refseq.mrnaCoord_2=784;refseq.name2_1=ENTPD6;refseq.name2_2=ENTPD6;refseq.name_1=NM_001114089;refseq.name_2=NM_001247;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K185E;refseq.proteinCoordStr_2=p.K202E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=25143509;refseq.start_2=25143509;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 1/1 chr20 25208931 . A G 238.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=412;Dels=0.00;HRun=0;HaplotypeScore=9.43;MQ=98.85;MQ0=0;OQ=14804.26;QD=35.93;RankSumP=1.00000;SB=-6251.38;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1122A>G;refseq.codonCoord=374;refseq.end=25208931;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1231;refseq.name=NM_002862;refseq.name2=PYGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.A374A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=30;refseq.start=25208931;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr20 25212814 . T C 341.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.73;MQ0=0;OQ=6163.38;QD=35.83;RankSumP=1.00000;SB=-2957.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1695T>C;refseq.codonCoord=565;refseq.end=25212814;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1804;refseq.name=NM_002862;refseq.name2=PYGB;refseq.positionType=CDS;refseq.proteinCoordStr=p.D565D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-74;refseq.start=25212814;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr20 25224297 . G A 209.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=372;Dels=0.00;HRun=1;HaplotypeScore=7.10;MQ=98.76;MQ0=0;OQ=14758.12;QD=39.67;RankSumP=1.00000;SB=-6036.29;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.2370G>A;refseq.codonCoord_2=790;refseq.end_1=25230844;refseq.end_2=25224297;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2479;refseq.name2_1=ABHD12;refseq.name2_2=PYGB;refseq.name_1=NM_015600;refseq.name_2=NM_002862;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q790Q;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=25223677;refseq.start_2=25224297;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chr20 25230944 . A G 254.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=3174.36;QD=36.07;RankSumP=1.00000;SB=-1097.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1068T>C;refseq.codingCoordStr_2=c.1068T>C;refseq.codonCoord_1=356;refseq.codonCoord_2=356;refseq.end_1=25230944;refseq.end_2=25230944;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1206;refseq.mrnaCoord_2=1206;refseq.name2_1=ABHD12;refseq.name2_2=ABHD12;refseq.name_1=NM_001042472;refseq.name_2=NM_015600;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D356D;refseq.proteinCoordStr_2=p.D356D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=25230944;refseq.start_2=25230944;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr20 25382139 . C T 356.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=311;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=98.65;MQ0=0;OQ=6151.58;QD=19.78;RankSumP=0.389667;SB=-2601.15;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4097G>A;refseq.codonCoord=1366;refseq.end=25382139;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4171;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1366H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=140;refseq.start=25382139;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr20 25384421 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3845A>G;refseq.codonCoord=1282;refseq.end=25384421;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3919;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1282G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=25384421;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr20 25387036 . G A 191.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=10.68;MQ=97.74;MQ0=0;OQ=3186.75;QD=15.78;RankSumP=0.240011;SB=-1509.63;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3826C>T;refseq.codonCoord=1276;refseq.end=25387036;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3900;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1276C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-18;refseq.start=25387036;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chr20 25404888 . A G 319.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.56;MQ0=0;OQ=1889.48;QD=34.35;RankSumP=1.00000;SB=-535.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3039T>C;refseq.codonCoord=1013;refseq.end=25404888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3113;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1013S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-210;refseq.start=25404888;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr20 25405022 . T C 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=30;Dels=0.00;HRun=4;HaplotypeScore=5.27;MQ=90.56;MQ0=0;OQ=131.06;QD=4.37;RankSumP=0.547619;SB=-48.25;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2905A>G;refseq.codonCoord=969;refseq.end=25405022;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2979;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R969G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-344;refseq.start=25405022;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap-filterIngatk GT 1/0 chr20 25405051 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2876A>T;refseq.codonCoord=959;refseq.end=25405051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2950;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E959V;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-373;refseq.start=25405051;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr20 25407764 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=12.49;MQ=98.97;MQ0=0;OQ=1918.76;QD=12.07;RankSumP=0.00588124;SB=-963.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1996A>C;refseq.codonCoord=666;refseq.end=25407764;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2070;refseq.name=NM_025176;refseq.name2=NINL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R666R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=79;refseq.start=25407764;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 1/0 chr20 25614642 . C T 191.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=8.39;MQ=98.75;MQ0=0;OQ=2935.41;QD=13.40;RankSumP=0.245945;SB=-1410.83;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.144G>A;refseq.codonCoord=48;refseq.end=25614642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=268;refseq.name=NM_015655;refseq.name2=ZNF337;refseq.positionType=CDS;refseq.proteinCoordStr=p.L48L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-11;refseq.start=25614642;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr20 26136824 . T C 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=32.20;MQ=62.50;MQ0=5;OQ=3620.34;QD=23.06;RankSumP=0.0610970;SB=-3.98;SecondBestBaseQ=23;refseq.chr=chr20;refseq.end=26136824;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=91;refseq.name=NR_030386;refseq.name2=MIR663;refseq.positionType=non_coding_exon;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=26136824;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr20 26136912 . A C 66.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=13.87;MQ=70.85;MQ0=0;OQ=3156.02;QD=20.76;RankSumP=0.0407441;SB=-154.63;SecondBestBaseQ=24;refseq.chr=chr20;refseq.end=26136912;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=3;refseq.name=NR_030386;refseq.name2=MIR663;refseq.positionType=non_coding_exon;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=26136912;refseq.transcriptStrand=-;set=filterInsoap-gatk GT 0/1 chr20 29354862 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=522;Dels=0.00;HRun=1;HaplotypeScore=14.04;MQ=98.88;MQ0=0;OQ=10673.43;QD=20.45;RankSumP=0.422802;SB=-2439.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.123G>A;refseq.codonCoord=41;refseq.end=29354862;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_001037731;refseq.name2=DEFB116;refseq.positionType=CDS;refseq.proteinCoordStr=p.E41E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=56;refseq.start=29354862;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 29878282 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=4.29;MQ=98.21;MQ0=0;OQ=1040.41;QD=14.65;RankSumP=0.668088;SB=-396.08;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1104C>T;refseq.codonCoord=368;refseq.end=29878282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1206;refseq.name=NM_033118;refseq.name2=MYLK2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F368F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=22;refseq.start=29878282;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr20 29896800 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=8.20;MQ=97.32;MQ0=0;OQ=1915.14;QD=11.47;RankSumP=0.242689;SB=-300.73;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.207C>T;refseq.codonCoord=69;refseq.end=29896800;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=282;refseq.name=NM_004118;refseq.name2=FOXS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N69N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=282;refseq.start=29896800;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr20 29916443 . C T 340.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=10.82;MQ=98.77;MQ0=0;OQ=6315.06;QD=17.54;RankSumP=0.400946;SB=-2263.47;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.-148G>A;refseq.codingCoordStr_2=c.162G>A;refseq.codingCoordStr_3=c.-148G>A;refseq.codonCoord_2=54;refseq.end_1=29916443;refseq.end_2=29916443;refseq.end_3=29916443;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=330;refseq.mrnaCoord_2=501;refseq.mrnaCoord_3=302;refseq.name2_1=DUSP15;refseq.name2_2=DUSP15;refseq.name2_3=DUSP15;refseq.name_1=NM_001012644;refseq.name_2=NM_080611;refseq.name_3=NM_177991;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_2=p.P54P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.start_1=29916443;refseq.start_2=29916443;refseq.start_3=29916443;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr20 29990726 . T C 236.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=4.78;MQ=99.00;MQ0=0;OQ=2657.03;QD=16.20;RankSumP=0.130135;SB=-1064.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1239T>C;refseq.codonCoord=413;refseq.end=29990726;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1492;refseq.name=NM_001008409;refseq.name2=TTLL9;refseq.positionType=CDS;refseq.proteinCoordStr=p.H413H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=29990726;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr20 30019872 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.233C>G;refseq.codonCoord=78;refseq.end=30019872;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=407;refseq.name=NM_001011718;refseq.name2=XKR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A78G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-352;refseq.start=30019872;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 30048391 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1210T>C;refseq.codonCoord=404;refseq.end=30048391;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1384;refseq.name=NM_001011718;refseq.name2=XKR7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S404P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=423;refseq.start=30048391;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 30080470 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1081A>C;refseq.codonCoord=361;refseq.end=30080470;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_080625;refseq.name2=C20orf160;refseq.positionType=CDS;refseq.proteinCoordStr=p.R361R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=12;refseq.start=30080470;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 0/1 chr20 30192962 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.231A>G;refseq.codonCoord=77;refseq.end=30192962;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_014742;refseq.name2=TM9SF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G77G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=30192962;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 30209931 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1522A>G;refseq.codonCoord=508;refseq.end=30209931;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1757;refseq.name=NM_014742;refseq.name2=TM9SF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I508V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=17;refseq.start=30209931;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr20 30248867 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.607143;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.540C>T;refseq.codonCoord=180;refseq.end=30248867;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_002657;refseq.name2=PLAGL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R180R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=280;refseq.start=30248867;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=FilteredInAll GT 1/0 chr20 30259480 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=99.00;MQ0=0;OQ=216.14;QD=13.51;RankSumP=0.425316;SB=-76.34;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.75T>C;refseq.codingCoordStr_2=c.75T>C;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=30259480;refseq.end_2=30259480;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=124;refseq.mrnaCoord_2=124;refseq.name2_1=POFUT1;refseq.name2_2=POFUT1;refseq.name_1=NM_015352;refseq.name_2=NM_172236;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P25P;refseq.proteinCoordStr_2=p.P25P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=30259480;refseq.start_2=30259480;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr20 30379122 . T C 105.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=1654.56;QD=20.43;RankSumP=0.467602;SB=-397.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1965T>C;refseq.codonCoord=655;refseq.end=30379122;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2132;refseq.name=NM_004798;refseq.name2=KIF3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y655Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-4;refseq.spliceInfo=splice-donor_-4;refseq.start=30379122;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chr20 30486443 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2267A>C;refseq.codonCoord=756;refseq.end=30486443;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2699;refseq.name=NM_015338;refseq.name2=ASXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D756A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=548;refseq.start=30486443;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr20 30486620 . T C 296.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=4080.03;QD=38.13;RankSumP=1.00000;SB=-1739.38;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2444T>C;refseq.codonCoord=815;refseq.end=30486620;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2876;refseq.name=NM_015338;refseq.name2=ASXL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L815P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=725;refseq.start=30486620;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr20 30831609 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=1016.23;QD=13.55;RankSumP=0.135251;SB=-365.79;SecondBestBaseQ=30;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_4=c.27C>T;refseq.codonCoord_4=9;refseq.end_1=30831774;refseq.end_2=30831774;refseq.end_3=30831774;refseq.end_4=30831609;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=291;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.S9S;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=AGC;refseq.spliceDist_4=-4;refseq.spliceInfo_4=splice-donor_-4;refseq.start_1=30814177;refseq.start_2=30814177;refseq.start_3=30814177;refseq.start_4=30831609;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_4=Ser;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chr20 30838729 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.465A>G;refseq.codingCoordStr_2=c.465A>G;refseq.codingCoordStr_3=c.465A>G;refseq.codingCoordStr_4=c.501A>G;refseq.codonCoord_1=155;refseq.codonCoord_2=155;refseq.codonCoord_3=155;refseq.codonCoord_4=167;refseq.end_1=30838729;refseq.end_2=30838729;refseq.end_3=30838729;refseq.end_4=30838729;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=786;refseq.mrnaCoord_2=786;refseq.mrnaCoord_3=786;refseq.mrnaCoord_4=765;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G155G;refseq.proteinCoordStr_2=p.G155G;refseq.proteinCoordStr_3=p.G155G;refseq.proteinCoordStr_4=p.G167G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.start_1=30838729;refseq.start_2=30838729;refseq.start_3=30838729;refseq.start_4=30838729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr20 30848280 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.1321A>G;refseq.codingCoordStr_2=c.1261A>G;refseq.codingCoordStr_3=c.1261A>G;refseq.codingCoordStr_4=c.1297A>G;refseq.codonCoord_1=441;refseq.codonCoord_2=421;refseq.codonCoord_3=421;refseq.codonCoord_4=433;refseq.end_1=30848280;refseq.end_2=30848280;refseq.end_3=30848280;refseq.end_4=30848280;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1642;refseq.mrnaCoord_2=1582;refseq.mrnaCoord_3=1582;refseq.mrnaCoord_4=1561;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K441E;refseq.proteinCoordStr_2=p.K421E;refseq.proteinCoordStr_3=p.K421E;refseq.proteinCoordStr_4=p.K433E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.spliceDist_3=24;refseq.spliceDist_4=24;refseq.start_1=30848280;refseq.start_2=30848280;refseq.start_3=30848280;refseq.start_4=30848280;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=FilteredInAll GT 0/1 chr20 30848285 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.1326C>A;refseq.codingCoordStr_2=c.1266C>A;refseq.codingCoordStr_3=c.1266C>A;refseq.codingCoordStr_4=c.1302C>A;refseq.codonCoord_1=442;refseq.codonCoord_2=422;refseq.codonCoord_3=422;refseq.codonCoord_4=434;refseq.end_1=30848285;refseq.end_2=30848285;refseq.end_3=30848285;refseq.end_4=30848285;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1647;refseq.mrnaCoord_2=1587;refseq.mrnaCoord_3=1587;refseq.mrnaCoord_4=1566;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N442K;refseq.proteinCoordStr_2=p.N422K;refseq.proteinCoordStr_3=p.N422K;refseq.proteinCoordStr_4=p.N434K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.spliceDist_3=29;refseq.spliceDist_4=29;refseq.start_1=30848285;refseq.start_2=30848285;refseq.start_3=30848285;refseq.start_4=30848285;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 1/0 chr20 30850008 . T C 250.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=97.59;MQ0=0;OQ=1553.75;QD=16.02;RankSumP=0.0977549;SB=-613.95;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.1572T>C;refseq.codingCoordStr_2=c.1512T>C;refseq.codingCoordStr_3=c.1512T>C;refseq.codingCoordStr_4=c.1548T>C;refseq.codonCoord_1=524;refseq.codonCoord_2=504;refseq.codonCoord_3=504;refseq.codonCoord_4=516;refseq.end_1=30850008;refseq.end_2=30850008;refseq.end_3=30850008;refseq.end_4=30850008;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1893;refseq.mrnaCoord_2=1833;refseq.mrnaCoord_3=1833;refseq.mrnaCoord_4=1812;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C524C;refseq.proteinCoordStr_2=p.C504C;refseq.proteinCoordStr_3=p.C504C;refseq.proteinCoordStr_4=p.C516C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=TGT;refseq.spliceDist_1=82;refseq.spliceDist_2=82;refseq.spliceDist_3=82;refseq.spliceDist_4=82;refseq.start_1=30850008;refseq.start_2=30850008;refseq.start_3=30850008;refseq.start_4=30850008;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;set=Intersection GT 1/0 chr20 30850110 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=43.32;MQ=97.15;MQ0=0;OQ=1701.10;QD=9.50;RankSumP=0.183701;SB=-581.72;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.1674T>C;refseq.codingCoordStr_2=c.1614T>C;refseq.codingCoordStr_3=c.1614T>C;refseq.codingCoordStr_4=c.1650T>C;refseq.codonCoord_1=558;refseq.codonCoord_2=538;refseq.codonCoord_3=538;refseq.codonCoord_4=550;refseq.end_1=30850110;refseq.end_2=30850110;refseq.end_3=30850110;refseq.end_4=30850110;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1995;refseq.mrnaCoord_2=1935;refseq.mrnaCoord_3=1935;refseq.mrnaCoord_4=1914;refseq.name2_1=DNMT3B;refseq.name2_2=DNMT3B;refseq.name2_3=DNMT3B;refseq.name2_4=DNMT3B;refseq.name_1=NM_006892;refseq.name_2=NM_175848;refseq.name_3=NM_175849;refseq.name_4=NM_175850;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Y558Y;refseq.proteinCoordStr_2=p.Y538Y;refseq.proteinCoordStr_3=p.Y538Y;refseq.proteinCoordStr_4=p.Y550Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceAA_4=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.referenceCodon_4=TAT;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.start_1=30850110;refseq.start_2=30850110;refseq.start_3=30850110;refseq.start_4=30850110;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;refseq.variantCodon_4=TAC;set=Intersection GT 1/0 chr20 31037316 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.784A>C;refseq.codonCoord=262;refseq.end=31037316;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_080675;refseq.name2=SUN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T262P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=55;refseq.start=31037316;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 31054347 . C A 274.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=10.07;MQ=98.98;MQ0=0;OQ=12290.99;QD=36.69;RankSumP=1.00000;SB=-4330.94;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.117G>T;refseq.codonCoord=39;refseq.end=31054347;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_080675;refseq.name2=SUN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E39D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-20;refseq.start=31054347;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr20 31070108 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.674T>G;refseq.codonCoord=225;refseq.end=31070108;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_025227;refseq.name2=BPIL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V225G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=31070108;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr20 31071100 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=1.28379e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.963T>G;refseq.codonCoord=321;refseq.end=31071100;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1157;refseq.name=NM_025227;refseq.name2=BPIL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G321G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=54;refseq.start=31071100;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 31073242 . C T 100.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=384;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.63;MQ0=0;OQ=16033.34;QD=41.75;RankSumP=1.00000;SB=-7023.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1311C>T;refseq.codonCoord=437;refseq.end=31073242;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1505;refseq.name=NM_025227;refseq.name2=BPIL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V437V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-25;refseq.start=31073242;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr20 31085744 . G A 428.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=98.98;MQ0=0;OQ=7027.36;QD=40.39;RankSumP=1.00000;SB=-2442.42;SecondBestBaseQ=2;set=Intersection GT 1/1 chr20 31087964 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;set=FilteredInAll GT 0/1 chr20 31090952 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=98.86;MQ0=0;OQ=2324.32;QD=38.10;RankSumP=1.00000;SB=-858.21;SecondBestBaseQ=0;set=Intersection GT 1/1 chr20 31115953 . G A 343.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=98.21;MQ0=0;OQ=3129.39;QD=40.12;RankSumP=1.00000;SB=-1403.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.682G>A;refseq.codonCoord=228;refseq.end=31115953;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=682;refseq.name=NM_182658;refseq.name2=C20orf185;refseq.positionType=CDS;refseq.proteinCoordStr=p.V228M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=30;refseq.start=31115953;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr20 31120293 . C G 179.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=98.31;MQ0=0;OQ=9369.86;QD=43.78;RankSumP=1.00000;SB=-2793.51;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1002C>G;refseq.codonCoord=334;refseq.end=31120293;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1002;refseq.name=NM_182658;refseq.name2=C20orf185;refseq.positionType=CDS;refseq.proteinCoordStr=p.H334Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=24;refseq.start=31120293;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr20 31137507 . A G 119.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.12;MQ0=0;OQ=938.75;QD=24.07;RankSumP=1.00000;SB=-459.72;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.802A>G;refseq.codonCoord=268;refseq.end=31137507;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_182519;refseq.name2=C20orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.I268V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=20;refseq.start=31137507;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/1 chr20 31140465 . A C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=271;Dels=0.00;HRun=2;HaplotypeScore=4.36;MQ=98.89;MQ0=0;OQ=10228.10;QD=37.74;RankSumP=1.00000;SB=-4745.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.959A>C;refseq.codonCoord=320;refseq.end=31140465;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=974;refseq.name=NM_182519;refseq.name2=C20orf186;refseq.positionType=CDS;refseq.proteinCoordStr=p.N320T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-32;refseq.start=31140465;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr20 31276584 . G A 278.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=559;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=98.83;MQ0=0;OQ=23769.02;QD=42.52;RankSumP=1.00000;SB=-6031.78;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.298G>A;refseq.codingCoordStr_2=c.406G>A;refseq.codonCoord_1=100;refseq.codonCoord_2=136;refseq.end_1=31276584;refseq.end_2=31276584;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=506;refseq.mrnaCoord_2=614;refseq.name2_1=C20orf71;refseq.name2_2=C20orf71;refseq.name_1=NM_001042439;refseq.name_2=NM_178466;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V100I;refseq.proteinCoordStr_2=p.V136I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=31276584;refseq.start_2=31276584;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/1 chr20 31342536 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.478A>C;refseq.codonCoord=160;refseq.end=31342536;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=639;refseq.name=NM_033197;refseq.name2=C20orf114;refseq.positionType=CDS;refseq.proteinCoordStr=p.T160P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-38;refseq.start=31342536;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 31352836 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.884C>G;refseq.codonCoord=295;refseq.end=31352836;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1045;refseq.name=NM_033197;refseq.name2=C20orf114;refseq.positionType=CDS;refseq.proteinCoordStr=p.A295G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-44;refseq.start=31352836;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr20 31361215 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=320;Dels=0.00;HRun=1;HaplotypeScore=3.47;MQ=98.63;MQ0=0;OQ=7657.25;QD=23.93;RankSumP=0.0782471;SB=-3055.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1436G>C;refseq.codonCoord=479;refseq.end=31361215;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1597;refseq.name=NM_033197;refseq.name2=C20orf114;refseq.positionType=CDS;refseq.proteinCoordStr=p.S479T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=41;refseq.start=31361215;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr20 31445510 . T C 241.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=346;Dels=0.00;HRun=0;HaplotypeScore=14.82;MQ=98.64;MQ0=0;OQ=7725.53;QD=22.33;RankSumP=0.262182;SB=-3267.46;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.162A>G;refseq.codingCoordStr_2=c.432A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=144;refseq.end_1=31445510;refseq.end_2=31445510;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=556;refseq.name2_1=CDK5RAP1;refseq.name2_2=CDK5RAP1;refseq.name_1=NM_016082;refseq.name_2=NM_016408;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T54T;refseq.proteinCoordStr_2=p.T144T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=31445510;refseq.start_2=31445510;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr20 31676351 . C T 294.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=98.94;MQ0=0;OQ=12701.49;QD=42.48;RankSumP=1.00000;SB=-5181.55;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.813C>T;refseq.codingCoordStr_2=c.753C>T;refseq.codingCoordStr_3=c.840C>T;refseq.codonCoord_1=271;refseq.codonCoord_2=251;refseq.codonCoord_3=280;refseq.end_1=31676351;refseq.end_2=31676351;refseq.end_3=31676351;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=959;refseq.mrnaCoord_2=1089;refseq.mrnaCoord_3=1377;refseq.name2_1=CBFA2T2;refseq.name2_2=CBFA2T2;refseq.name2_3=CBFA2T2;refseq.name_1=NM_001032999;refseq.name_2=NM_001039709;refseq.name_3=NM_005093;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P271P;refseq.proteinCoordStr_2=p.P251P;refseq.proteinCoordStr_3=p.P280P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.spliceDist_3=121;refseq.start_1=31676351;refseq.start_2=31676351;refseq.start_3=31676351;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/1 chr20 31711824 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.53;MQ0=0;OQ=1275.57;QD=11.29;RankSumP=0.0592132;SB=-611.53;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.426G>A;refseq.codingCoordStr_2=c.426G>A;refseq.codonCoord_1=142;refseq.codonCoord_2=142;refseq.end_1=31711824;refseq.end_2=31711824;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=532;refseq.mrnaCoord_2=532;refseq.name2_1=NECAB3;refseq.name2_2=NECAB3;refseq.name_1=NM_031231;refseq.name_2=NM_031232;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T142T;refseq.proteinCoordStr_2=p.T142T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=31711824;refseq.start_2=31711824;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr20 31715139 . C G 4 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=1;RankSumP=0.681818;SecondBestBaseQ=14;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.267C>G;refseq.codonCoord_3=89;refseq.end_1=31720831;refseq.end_2=31720831;refseq.end_3=31715139;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=299;refseq.name2_1=NECAB3;refseq.name2_2=NECAB3;refseq.name2_3=C20orf144;refseq.name_1=NM_031231;refseq.name_2=NM_031232;refseq.name_3=NM_080825;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.R89R;refseq.referenceAA_3=Arg;refseq.referenceCodon_3=CGC;refseq.spliceDist_3=141;refseq.start_1=31711873;refseq.start_2=31711873;refseq.start_3=31715139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Arg;refseq.variantCodon_3=CGG;set=FilteredInAll GT 1/0 chr20 31728336 . C T 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.81;MQ0=0;OQ=170.81;QD=9.49;RankSumP=0.741350;SB=-58.03;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1177G>A;refseq.codonCoord=393;refseq.end=31728336;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_005225;refseq.name2=E2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G393S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=111;refseq.start=31728336;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr20 31728603 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1035T>C;refseq.codonCoord=345;refseq.end=31728603;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1175;refseq.name=NM_005225;refseq.name2=E2F1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D345D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-32;refseq.start=31728603;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr20 31759202 . C T 333.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=98.66;MQ0=0;OQ=9903.04;QD=41.09;RankSumP=1.00000;SB=-4384.71;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.610G>A;refseq.codingCoordStr_2=c.*195G>A;refseq.codonCoord_1=204;refseq.end_1=31759202;refseq.end_2=31759202;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=733;refseq.mrnaCoord_2=534;refseq.name2_1=PXMP4;refseq.name2_2=PXMP4;refseq.name_1=NM_007238;refseq.name_2=NM_183397;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.V204I;refseq.referenceAA_1=Val;refseq.referenceCodon_1=GTC;refseq.spliceDist_1=235;refseq.spliceDist_2=235;refseq.start_1=31759202;refseq.start_2=31759202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantCodon_1=ATC;set=Intersection GT 1/1 chr20 31766139 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.176+2;refseq.codingCoordStr_2=c.176+2;refseq.end_1=31766139;refseq.end_2=31766139;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=PXMP4;refseq.name2_2=PXMP4;refseq.name_1=NM_007238;refseq.name_2=NM_183397;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=31766139;refseq.start_2=31766139;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr20 31821717 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1559T>C;refseq.codonCoord=520;refseq.end=31821717;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1579;refseq.name=NM_032819;refseq.name2=ZNF341;refseq.positionType=CDS;refseq.proteinCoordStr=p.L520P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-43;refseq.start=31821717;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 31842924 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=97.42;MQ0=0;OQ=781.55;QD=12.61;RankSumP=0.435861;SB=-221.43;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2484T>C;refseq.codonCoord=828;refseq.end=31842924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2504;refseq.name=NM_032819;refseq.name2=ZNF341;refseq.positionType=CDS;refseq.proteinCoordStr=p.A828A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=470;refseq.start=31842924;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr20 32128527 . G A 34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.643G>A;refseq.codingCoordStr_2=c.691G>A;refseq.codonCoord_1=215;refseq.codonCoord_2=231;refseq.end_1=32128527;refseq.end_2=32128527;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=941;refseq.mrnaCoord_2=989;refseq.name2_1=RALY;refseq.name2_2=RALY;refseq.name_1=NM_007367;refseq.name_2=NM_016732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G215S;refseq.proteinCoordStr_2=p.G231S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=32128527;refseq.start_2=32128527;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=soap GT 1/1 chr20 32128541 . T C 19 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.404040;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.657T>C;refseq.codingCoordStr_2=c.705T>C;refseq.codonCoord_1=219;refseq.codonCoord_2=235;refseq.end_1=32128541;refseq.end_2=32128541;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=955;refseq.mrnaCoord_2=1003;refseq.name2_1=RALY;refseq.name2_2=RALY;refseq.name_1=NM_007367;refseq.name_2=NM_016732;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G219G;refseq.proteinCoordStr_2=p.G235G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=32128541;refseq.start_2=32128541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chr20 32801412 . T C 113.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=16.99;MQ=98.58;MQ0=0;OQ=14384.13;QD=38.77;RankSumP=1.00000;SB=-3748.92;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2247A>G;refseq.codonCoord=749;refseq.end=32801412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2569;refseq.name=NM_014071;refseq.name2=NCOA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P749P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-546;refseq.start=32801412;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr20 32810379 . T G 45.63 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=186;Dels=0.00;HRun=3;HaplotypeScore=10.99;MQ=97.36;MQ0=0;QD=0.25;RankSumP=0.00000;SB=235.32;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.533A>C;refseq.codonCoord=178;refseq.end=32810379;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_014071;refseq.name2=NCOA6;refseq.positionType=CDS;refseq.proteinCoordStr=p.N178T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=19;refseq.start=32810379;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr20 32934355 . C T 89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=168;Dels=0.00;HRun=2;HaplotypeScore=6.47;MQ=98.58;MQ0=0;OQ=7014.78;QD=41.75;RankSumP=1.00000;SB=-3353.75;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_2=c.276C>T;refseq.codingCoordStr_3=c.276C>T;refseq.codonCoord_2=92;refseq.codonCoord_3=92;refseq.end_1=32934355;refseq.end_2=32934355;refseq.end_3=32934355;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=273;refseq.mrnaCoord_2=397;refseq.mrnaCoord_3=397;refseq.name2_1=ACSS2;refseq.name2_2=ACSS2;refseq.name2_3=ACSS2;refseq.name_1=NR_028046;refseq.name_2=NM_001076552;refseq.name_3=NM_018677;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.F92F;refseq.proteinCoordStr_3=p.F92F;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=98;refseq.spliceDist_2=98;refseq.spliceDist_3=98;refseq.start_1=32934355;refseq.start_2=32934355;refseq.start_3=32934355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=Intersection GT 1/1 chr20 32965854 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_2=c.787T>C;refseq.codingCoordStr_3=c.787T>C;refseq.codonCoord_2=263;refseq.codonCoord_3=263;refseq.end_1=32965854;refseq.end_2=32965854;refseq.end_3=32965854;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=784;refseq.mrnaCoord_2=908;refseq.mrnaCoord_3=908;refseq.name2_1=ACSS2;refseq.name2_2=ACSS2;refseq.name2_3=ACSS2;refseq.name_1=NR_028046;refseq.name_2=NM_001076552;refseq.name_3=NM_018677;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S263P;refseq.proteinCoordStr_3=p.S263P;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.spliceDist_3=-48;refseq.start_1=32965854;refseq.start_2=32965854;refseq.start_3=32965854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr20 32965857 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=201;Dels=0.00;HRun=2;HaplotypeScore=13.99;MQ=97.81;MQ0=0;OQ=413.03;QD=2.05;RankSumP=0.00000;SB=221.69;SecondBestBaseQ=18;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_2=c.790A>C;refseq.codingCoordStr_3=c.790A>C;refseq.codonCoord_2=264;refseq.codonCoord_3=264;refseq.end_1=32965857;refseq.end_2=32965857;refseq.end_3=32965857;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=787;refseq.mrnaCoord_2=911;refseq.mrnaCoord_3=911;refseq.name2_1=ACSS2;refseq.name2_2=ACSS2;refseq.name2_3=ACSS2;refseq.name_1=NR_028046;refseq.name_2=NM_001076552;refseq.name_3=NM_018677;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.T264P;refseq.proteinCoordStr_3=p.T264P;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=32965857;refseq.start_2=32965857;refseq.start_3=32965857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr20 33038426 . T C 233.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=6.85;MQ=98.67;MQ0=0;OQ=10913.56;QD=34.43;RankSumP=1.00000;SB=-4478.17;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1107T>C;refseq.codonCoord=369;refseq.end=33038426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1424;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N369N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-28;refseq.start=33038426;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr20 33041912 . A G 269.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=99.00;MQ0=0;OQ=2228.17;QD=35.37;RankSumP=1.00000;SB=-816.09;SecondBestBaseQ=0;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.end_1=33042191;refseq.end_2=33041912;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=73;refseq.name2_1=MYH7B;refseq.name2_2=MIR499;refseq.name_1=NM_020884;refseq.name_2=NR_030223;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-50;refseq.start_1=33041785;refseq.start_2=33041912;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr20 33042560 . T C 436.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.59;MQ0=0;OQ=5408.43;QD=38.63;RankSumP=1.00000;SB=-1677.65;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2284T>C;refseq.codonCoord=762;refseq.end=33042560;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2601;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L762L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-26;refseq.start=33042560;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr20 33046992 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=23.43;MQ=96.85;MQ0=0;OQ=3755.05;QD=28.23;RankSumP=1.00000;SB=-491.85;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3019A>G;refseq.codonCoord=1007;refseq.end=33046992;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3336;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1007E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-51;refseq.start=33046992;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr20 33049854 . C T 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=98.33;MQ0=0;OQ=2818.30;QD=29.67;RankSumP=1.00000;SB=-208.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3969C>T;refseq.codonCoord=1323;refseq.end=33049854;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4286;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1323S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-32;refseq.start=33049854;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr20 33050859 . G C 315.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=349.66;QD=38.85;RankSumP=1.00000;SB=-103.94;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4656G>C;refseq.codonCoord=1552;refseq.end=33050859;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4973;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1552N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-11;refseq.start=33050859;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr20 33052768 . G A 82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.88;MQ0=0;OQ=3063.71;QD=39.79;RankSumP=1.00000;SB=-1230.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.5661G>A;refseq.codonCoord=1887;refseq.end=33052768;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5978;refseq.name=NM_020884;refseq.name2=MYH7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1887K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-46;refseq.start=33052768;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr20 33120787 . G A 423.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.86;MQ0=0;OQ=2870.85;QD=37.28;RankSumP=1.00000;SB=-1314.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.387C>T;refseq.codingCoordStr_2=c.387C>T;refseq.codonCoord_1=129;refseq.codonCoord_2=129;refseq.end_1=33120787;refseq.end_2=33120787;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=421;refseq.mrnaCoord_2=421;refseq.name2_1=TRPC4AP;refseq.name2_2=TRPC4AP;refseq.name_1=NM_015638;refseq.name_2=NM_199368;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y129Y;refseq.proteinCoordStr_2=p.Y129Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=33120787;refseq.start_2=33120787;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr20 33167268 . C T 441.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.74;MQ0=0;OQ=4970.41;QD=40.41;RankSumP=1.00000;SB=-1927.07;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_2=c.1255G>A;refseq.codingCoordStr_3=c.1366G>A;refseq.codonCoord_2=419;refseq.codonCoord_3=456;refseq.end_1=33167268;refseq.end_2=33167268;refseq.end_3=33167268;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1682;refseq.mrnaCoord_2=1355;refseq.mrnaCoord_3=1466;refseq.name2_1=EDEM2;refseq.name2_2=EDEM2;refseq.name2_3=EDEM2;refseq.name_1=NR_026728;refseq.name_2=NM_001145025;refseq.name_3=NM_018217;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.A419T;refseq.proteinCoordStr_3=p.A456T;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.spliceDist_3=130;refseq.start_1=33167268;refseq.start_2=33167268;refseq.start_3=33167268;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr20 33338134 . C T 224.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=10.04;MQ=97.90;MQ0=0;OQ=2230.25;QD=14.77;RankSumP=0.188678;SB=-915.76;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1862G>A;refseq.codonCoord=621;refseq.end=33338134;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1980;refseq.name=NM_178468;refseq.name2=FAM83C;refseq.positionType=CDS;refseq.proteinCoordStr=p.R621Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1056;refseq.start=33338134;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chr20 33435328 . C T 134.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=8.56;MQ=98.64;MQ0=0;OQ=2768.10;QD=13.70;RankSumP=0.330368;SB=-1047.33;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.152G>A;refseq.codingCoordStr_2=c.152G>A;refseq.codonCoord_1=51;refseq.codonCoord_2=51;refseq.end_1=33435328;refseq.end_2=33435328;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=219;refseq.mrnaCoord_2=219;refseq.name2_1=UQCC;refseq.name2_2=UQCC;refseq.name_1=NM_018244;refseq.name_2=NM_199487;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R51Q;refseq.proteinCoordStr_2=p.R51Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.start_1=33435328;refseq.start_2=33435328;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr20 33485801 . A C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=98.27;MQ0=0;OQ=85.54;QD=2.95;RankSumP=0.640090;SB=-27.50;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.826T>G;refseq.codonCoord=276;refseq.end=33485801;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1145;refseq.name=NM_000557;refseq.name2=GDF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S276A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=195;refseq.start=33485801;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 0/1 chr20 33518260 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.548A>G;refseq.codonCoord=183;refseq.end=33518260;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1195;refseq.name=NM_007186;refseq.name2=CEP250;refseq.positionType=CDS;refseq.proteinCoordStr=p.E183G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-52;refseq.start=33518260;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 33545817 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3086T>G;refseq.codonCoord=1029;refseq.end=33545817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3733;refseq.name=NM_007186;refseq.name2=CEP250;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1029G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=53;refseq.start=33545817;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 33553765 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4154G>C;refseq.codonCoord=1385;refseq.end=33553765;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4801;refseq.name=NM_007186;refseq.name2=CEP250;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1385P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=134;refseq.start=33553765;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 33555991 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.6380A>C;refseq.codonCoord=2127;refseq.end=33555991;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7027;refseq.name=NM_007186;refseq.name2=CEP250;refseq.positionType=CDS;refseq.proteinCoordStr=p.H2127P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-257;refseq.start=33555991;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 33678137 . T C 352.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=7.71;MQ=98.58;MQ0=0;OQ=5467.44;QD=17.47;RankSumP=0.246824;SB=-1663.05;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.chr_6=chr20;refseq.chr_7=chr20;refseq.chr_8=chr20;refseq.codingCoordStr_1=c.1254A>G;refseq.codingCoordStr_2=c.1239A>G;refseq.codingCoordStr_3=c.1239A>G;refseq.codingCoordStr_4=c.1239A>G;refseq.codingCoordStr_5=c.1239A>G;refseq.codingCoordStr_6=c.1239A>G;refseq.codingCoordStr_7=c.1239A>G;refseq.codingCoordStr_8=c.1239A>G;refseq.codonCoord_1=418;refseq.codonCoord_2=413;refseq.codonCoord_3=413;refseq.codonCoord_4=413;refseq.codonCoord_5=413;refseq.codonCoord_6=413;refseq.codonCoord_7=413;refseq.codonCoord_8=413;refseq.end_1=33678137;refseq.end_2=33678137;refseq.end_3=33678137;refseq.end_4=33678137;refseq.end_5=33678137;refseq.end_6=33678137;refseq.end_7=33678137;refseq.end_8=33678137;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1621;refseq.mrnaCoord_2=1406;refseq.mrnaCoord_3=1364;refseq.mrnaCoord_4=1491;refseq.mrnaCoord_5=1459;refseq.mrnaCoord_6=1507;refseq.mrnaCoord_7=1634;refseq.mrnaCoord_8=1602;refseq.name2_1=CPNE1;refseq.name2_2=CPNE1;refseq.name2_3=CPNE1;refseq.name2_4=CPNE1;refseq.name2_5=CPNE1;refseq.name2_6=CPNE1;refseq.name2_7=CPNE1;refseq.name2_8=CPNE1;refseq.name_1=NM_003915;refseq.name_2=NM_152925;refseq.name_3=NM_152926;refseq.name_4=NM_152927;refseq.name_5=NM_152928;refseq.name_6=NM_152929;refseq.name_7=NM_152930;refseq.name_8=NM_152931;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.Q418Q;refseq.proteinCoordStr_2=p.Q413Q;refseq.proteinCoordStr_3=p.Q413Q;refseq.proteinCoordStr_4=p.Q413Q;refseq.proteinCoordStr_5=p.Q413Q;refseq.proteinCoordStr_6=p.Q413Q;refseq.proteinCoordStr_7=p.Q413Q;refseq.proteinCoordStr_8=p.Q413Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceAA_5=Gln;refseq.referenceAA_6=Gln;refseq.referenceAA_7=Gln;refseq.referenceAA_8=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.referenceCodon_5=CAA;refseq.referenceCodon_6=CAA;refseq.referenceCodon_7=CAA;refseq.referenceCodon_8=CAA;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceDist_5=3;refseq.spliceDist_6=3;refseq.spliceDist_7=3;refseq.spliceDist_8=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.spliceInfo_5=splice-acceptor_3;refseq.spliceInfo_6=splice-acceptor_3;refseq.spliceInfo_7=splice-acceptor_3;refseq.spliceInfo_8=splice-acceptor_3;refseq.start_1=33678137;refseq.start_2=33678137;refseq.start_3=33678137;refseq.start_4=33678137;refseq.start_5=33678137;refseq.start_6=33678137;refseq.start_7=33678137;refseq.start_8=33678137;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantAA_8=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_6=CAG;refseq.variantCodon_7=CAG;refseq.variantCodon_8=CAG;set=Intersection GT 1/0 chr20 33749051 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.293A>G;refseq.codonCoord=98;refseq.end=33749051;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_021100;refseq.name2=NFS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E98G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-32;refseq.start=33749051;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 33755841 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.261720;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1551G>A;refseq.codingCoordStr_2=c.1569G>A;refseq.codonCoord_1=517;refseq.codonCoord_2=523;refseq.end_1=33755841;refseq.end_2=33755841;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1895;refseq.mrnaCoord_2=1913;refseq.name2_1=RBM39;refseq.name2_2=RBM39;refseq.name_1=NM_004902;refseq.name_2=NM_184234;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q517Q;refseq.proteinCoordStr_2=p.Q523Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.start_1=33755841;refseq.start_2=33755841;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=soap GT 0/1 chr20 33982629 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2149A>G;refseq.codonCoord=717;refseq.end=33982629;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2260;refseq.name=NM_016436;refseq.name2=PHF20;refseq.positionType=CDS;refseq.proteinCoordStr=p.S717G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=45;refseq.start=33982629;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chr20 34005258 . A C 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=7;HRun=3;RankSumP=0.519995;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.363T>G;refseq.codingCoordStr_2=c.363T>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=34005258;refseq.end_2=34005258;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=585;refseq.mrnaCoord_2=477;refseq.name2_1=SCAND1;refseq.name2_2=SCAND1;refseq.name_1=NM_016558;refseq.name_2=NM_033630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G121G;refseq.proteinCoordStr_2=p.G121G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-299;refseq.spliceDist_2=-299;refseq.start_1=34005258;refseq.start_2=34005258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr20 34046398 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=2.57043e-09;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.880T>G;refseq.codonCoord=294;refseq.end=34046398;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1036;refseq.name=NM_080834;refseq.name2=C20orf152;refseq.positionType=CDS;refseq.proteinCoordStr=p.L294V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=25;refseq.start=34046398;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr20 34814644 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.codingCoordStr_1=c.1032A>C;refseq.codingCoordStr_2=c.1032A>C;refseq.codingCoordStr_3=c.711A>C;refseq.codingCoordStr_4=c.984A>C;refseq.codingCoordStr_5=c.1032A>C;refseq.codonCoord_1=344;refseq.codonCoord_2=344;refseq.codonCoord_3=237;refseq.codonCoord_4=328;refseq.codonCoord_5=344;refseq.end_1=34814644;refseq.end_2=34814644;refseq.end_3=34814644;refseq.end_4=34814644;refseq.end_5=34814644;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1213;refseq.mrnaCoord_2=1405;refseq.mrnaCoord_3=892;refseq.mrnaCoord_4=1164;refseq.mrnaCoord_5=1318;refseq.name2_1=DSN1;refseq.name2_2=DSN1;refseq.name2_3=DSN1;refseq.name2_4=DSN1;refseq.name2_5=DSN1;refseq.name_1=NM_001145315;refseq.name_2=NM_001145316;refseq.name_3=NM_001145317;refseq.name_4=NM_001145318;refseq.name_5=NM_024918;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P344P;refseq.proteinCoordStr_2=p.P344P;refseq.proteinCoordStr_3=p.P237P;refseq.proteinCoordStr_4=p.P328P;refseq.proteinCoordStr_5=p.P344P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.spliceDist_1=71;refseq.spliceDist_2=71;refseq.spliceDist_3=71;refseq.spliceDist_4=71;refseq.spliceDist_5=71;refseq.start_1=34814644;refseq.start_2=34814644;refseq.start_3=34814644;refseq.start_4=34814644;refseq.start_5=34814644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;set=FilteredInAll GT 1/0 chr20 34940956 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=5.57;MQ=97.05;MQ0=0;OQ=1276.41;QD=15.38;RankSumP=0.288528;SB=-151.60;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.288G>A;refseq.codonCoord=96;refseq.end=34940956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_080628;refseq.name2=C20orf118;refseq.positionType=CDS;refseq.proteinCoordStr=p.R96R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-55;refseq.start=34940956;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr20 34949347 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr=chr20;refseq.codingCoordStr=c.512+2;refseq.end=34949347;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_080628;refseq.name2=C20orf118;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=34949347;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr20 35298468 . C T 195.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=291;Dels=0.00;HRun=1;HaplotypeScore=5.05;MQ=98.78;MQ0=0;OQ=12247.04;QD=42.09;RankSumP=1.00000;SB=-5118.18;SecondBestBaseQ=15;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1729C>T;refseq.codingCoordStr_2=c.1825C>T;refseq.codonCoord_1=577;refseq.codonCoord_2=609;refseq.end_1=35298468;refseq.end_2=35298468;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2033;refseq.mrnaCoord_2=2129;refseq.name2_1=RPN2;refseq.name2_2=RPN2;refseq.name_1=NM_001135771;refseq.name_2=NM_002951;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L577L;refseq.proteinCoordStr_2=p.L609L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=35298468;refseq.start_2=35298468;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr20 35464353 . G C 249.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=97.70;MQ0=0;OQ=4924.35;QD=40.04;RankSumP=1.00000;SB=-2136.05;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1218G>C;refseq.codingCoordStr_2=c.1218G>C;refseq.codonCoord_1=406;refseq.codonCoord_2=406;refseq.end_1=35464353;refseq.end_2=35464353;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1667;refseq.mrnaCoord_2=1566;refseq.name2_1=SRC;refseq.name2_2=SRC;refseq.name_1=NM_005417;refseq.name_2=NM_198291;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A406A;refseq.proteinCoordStr_2=p.A406A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=35464353;refseq.start_2=35464353;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr20 35829846 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.736T>G;refseq.codonCoord=246;refseq.end=35829846;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=827;refseq.name=NM_030877;refseq.name2=CTNNBL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L246V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-15;refseq.start=35829846;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr20 36006012 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.0804196;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.558C>A;refseq.codonCoord=186;refseq.end=36006012;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=812;refseq.name=NM_080607;refseq.name2=VSTM2L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P186P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=216;refseq.start=36006012;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr20 36074161 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1472T>G;refseq.codonCoord=491;refseq.end=36074161;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1681;refseq.name=NM_014657;refseq.name2=KIAA0406;refseq.positionType=CDS;refseq.proteinCoordStr=p.V491G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-831;refseq.start=36074161;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr20 36275170 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.79;MQ0=0;OQ=394.04;QD=9.38;RankSumP=0.543417;SB=-125.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3291A>G;refseq.codonCoord=1097;refseq.end=36275170;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3563;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1097S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=390;refseq.start=36275170;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr20 36275328 . G A 188.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=944.27;QD=17.49;RankSumP=0.431578;SB=-273.75;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3133C>T;refseq.codonCoord=1045;refseq.end=36275328;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3405;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1045W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=232;refseq.start=36275328;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr20 36279152 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.39;MQ=97.74;MQ0=0;OQ=659.63;QD=14.34;RankSumP=0.0357947;SB=-249.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2818G>A;refseq.codonCoord=940;refseq.end=36279152;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3090;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.E940K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-84;refseq.start=36279152;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr20 36293125 . G A 168.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=97.80;MQ0=0;OQ=1328.02;QD=19.82;RankSumP=0.297278;SB=-654.13;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1764C>T;refseq.codonCoord=588;refseq.end=36293125;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2036;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.A588A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=17;refseq.start=36293125;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 36302930 . C A 246.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2730.27;QD=17.39;RankSumP=0.214968;SB=-833.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1017G>T;refseq.codonCoord=339;refseq.end=36302930;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1289;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.K339N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-533;refseq.start=36302930;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr20 36303536 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=110;Dels=0.00;HRun=2;HaplotypeScore=4.36;MQ=98.96;MQ0=0;OQ=2110.03;QD=19.18;RankSumP=0.498701;SB=-358.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.411A>C;refseq.codonCoord=137;refseq.end=36303536;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_001029864;refseq.name2=KIAA1755;refseq.positionType=CDS;refseq.proteinCoordStr=p.P137P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=210;refseq.start=36303536;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr20 36366074 . C T 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=33.66;MQ=97.76;MQ0=0;OQ=6509.40;QD=26.14;RankSumP=1.00000;SB=-3102.78;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.47C>T;refseq.codonCoord=16;refseq.end=36366074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=109;refseq.name=NM_001725;refseq.name2=BPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.A16V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-96;refseq.start=36366074;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr20 36366090 . G C 36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=211;Dels=0.00;HRun=0;HaplotypeScore=20.12;MQ=97.55;MQ0=0;OQ=5593.30;QD=26.51;RankSumP=1.00000;SB=-1781.50;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.63G>C;refseq.codonCoord=21;refseq.end=36366090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_001725;refseq.name2=BPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.L21L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-80;refseq.start=36366090;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr20 36369397 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=6.76029e-08;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.157A>C;refseq.codonCoord=53;refseq.end=36369397;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=219;refseq.name=NM_001725;refseq.name2=BPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.T53P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=15;refseq.start=36369397;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 0/1 chr20 36372420 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.500G>C;refseq.codonCoord=167;refseq.end=36372420;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_001725;refseq.name2=BPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.S167T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-49;refseq.start=36372420;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr20 36380262 . G A 279.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=8550.36;QD=43.18;RankSumP=1.00000;SB=-4008.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.646G>A;refseq.codonCoord=216;refseq.end=36380262;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=708;refseq.name=NM_001725;refseq.name2=BPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.E216K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-31;refseq.start=36380262;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr20 36422795 . G A 179.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=98.97;MQ0=0;OQ=5440.23;QD=24.51;RankSumP=0.139389;SB=-2126.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.612G>A;refseq.codonCoord=204;refseq.end=36422795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=647;refseq.name=NM_004139;refseq.name2=LBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S204S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=24;refseq.start=36422795;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr20 36431069 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=788.80;QD=12.93;RankSumP=0.402883;SB=-128.51;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.998C>T;refseq.codonCoord=333;refseq.end=36431069;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_004139;refseq.name2=LBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.P333L;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=17;refseq.start=36431069;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr20 36495997 . T C 442.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.75;MQ0=0;OQ=7532.89;QD=39.86;RankSumP=1.00000;SB=-2879.47;SecondBestBaseQ=0;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.end_1=36496550;refseq.end_2=36496550;refseq.end_3=36495997;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.mrnaCoord_3=60;refseq.name2_1=LOC388796;refseq.name2_2=LOC388796;refseq.name2_3=SNORA71D;refseq.name_1=NR_015366;refseq.name_2=NR_027241;refseq.name_3=NR_003018;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=60;refseq.start_1=36493180;refseq.start_2=36493180;refseq.start_3=36495997;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chr20 36817054 . T C 315.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=13.26;MQ=98.58;MQ0=0;OQ=5361.03;QD=17.35;RankSumP=0.457329;SB=-2070.05;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.816T>C;refseq.codonCoord=272;refseq.end=36817054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=841;refseq.name=NM_024855;refseq.name2=ACTR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N272N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=41;refseq.start=36817054;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr20 36829534 . A G 142.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=511;Dels=0.00;HRun=0;HaplotypeScore=20.95;MQ=98.74;MQ0=0;OQ=9566.99;QD=18.72;RankSumP=0.445971;SB=-3696.70;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1447A>G;refseq.codonCoord=483;refseq.end=36829534;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1472;refseq.name=NM_024855;refseq.name2=ACTR5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I483V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=14;refseq.start=36829534;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr20 37080862 . T G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.500000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1404T>G;refseq.codonCoord=468;refseq.end=37080862;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1415;refseq.name=NM_021931;refseq.name2=DHX35;refseq.positionType=CDS;refseq.proteinCoordStr=p.G468G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=37080862;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr20 39199770 . C A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.468531;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.75C>A;refseq.codingCoordStr_2=c.75C>A;refseq.codonCoord_1=25;refseq.codonCoord_2=25;refseq.end_1=39199770;refseq.end_2=39199770;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=196;refseq.mrnaCoord_2=196;refseq.name2_1=PLCG1;refseq.name2_2=PLCG1;refseq.name_1=NM_002660;refseq.name_2=NM_182811;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L25L;refseq.proteinCoordStr_2=p.L25L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-143;refseq.spliceDist_2=-143;refseq.start_1=39199770;refseq.start_2=39199770;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=FilteredInAll GT 1/0 chr20 39264833 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2138G>C;refseq.codonCoord=713;refseq.end=39264833;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2516;refseq.name=NM_015035;refseq.name2=ZHX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S713T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-723;refseq.start=39264833;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr20 39264834 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2137A>C;refseq.codonCoord=713;refseq.end=39264834;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2515;refseq.name=NM_015035;refseq.name2=ZHX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S713R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-724;refseq.start=39264834;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr20 39265200 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1771A>C;refseq.codonCoord=591;refseq.end=39265200;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2149;refseq.name=NM_015035;refseq.name2=ZHX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T591P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-1090;refseq.start=39265200;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr20 39266111 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.860A>C;refseq.codonCoord=287;refseq.end=39266111;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1238;refseq.name=NM_015035;refseq.name2=ZHX3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H287P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1010;refseq.start=39266111;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 39412261 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.912T>G;refseq.codonCoord=304;refseq.end=39412261;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_022896;refseq.name2=LPIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G304G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=153;refseq.start=39412261;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 39419160 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1870A>C;refseq.codonCoord=624;refseq.end=39419160;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1961;refseq.name=NM_022896;refseq.name2=LPIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T624P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=67;refseq.start=39419160;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 39420515 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2330T>G;refseq.codonCoord=777;refseq.end=39420515;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2421;refseq.name=NM_022896;refseq.name2=LPIN3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V777G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=39420515;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 40146778 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.4094A>G;refseq.codingCoordStr_2=c.4151A>G;refseq.codonCoord_1=1365;refseq.codonCoord_2=1384;refseq.end_1=40146778;refseq.end_2=40146778;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4278;refseq.mrnaCoord_2=4335;refseq.name2_1=PTPRT;refseq.name2_2=PTPRT;refseq.name_1=NM_007050;refseq.name_2=NM_133170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1365G;refseq.proteinCoordStr_2=p.E1384G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-43;refseq.spliceDist_2=-43;refseq.start_1=40146778;refseq.start_2=40146778;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr20 40147893 . G A 116.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=11.98;MQ=98.41;MQ0=0;OQ=2866.34;QD=17.48;RankSumP=0.00477529;SB=-1234.02;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3861C>T;refseq.codingCoordStr_2=c.3918C>T;refseq.codonCoord_1=1287;refseq.codonCoord_2=1306;refseq.end_1=40147893;refseq.end_2=40147893;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4045;refseq.mrnaCoord_2=4102;refseq.name2_1=PTPRT;refseq.name2_2=PTPRT;refseq.name_1=NM_007050;refseq.name_2=NM_133170;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y1287Y;refseq.proteinCoordStr_2=p.Y1306Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=40147893;refseq.start_2=40147893;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=filterInsoap-gatk GT 1/0 chr20 41522259 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.554C>A;refseq.codonCoord=185;refseq.end=41522259;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=724;refseq.name=NM_006275;refseq.name2=SFRS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T185K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-37;refseq.start=41522259;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chr20 41522925 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=166;Dels=0.00;HRun=4;HaplotypeScore=7.22;MQ=77.43;MQ0=7;OQ=6023.20;QD=36.28;RankSumP=1.00000;SB=-1941.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.843T>C;refseq.codonCoord=281;refseq.end=41522925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1013;refseq.name=NM_006275;refseq.name2=SFRS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P281P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=169;refseq.start=41522925;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr20 41628403 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.22;MQ0=0;OQ=906.37;QD=15.11;RankSumP=0.221358;SB=-265.98;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.34T>A;refseq.codonCoord_2=12;refseq.end_1=41628516;refseq.end_2=41628403;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=253;refseq.name2_1=SGK2;refseq.name2_2=SGK2;refseq.name_1=NM_170693;refseq.name_2=NM_016276;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S12T;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCA;refseq.spliceDist_2=-183;refseq.start_1=41621224;refseq.start_2=41628403;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 1/0 chr20 41638327 . A C 15.81 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=75;Dels=0.00;HRun=2;HaplotypeScore=10.46;MQ=96.00;MQ0=0;QD=0.21;RankSumP=0.00000;SB=95.34;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.923A>C;refseq.codingCoordStr_2=c.743A>C;refseq.codonCoord_1=308;refseq.codonCoord_2=248;refseq.end_1=41638327;refseq.end_2=41638327;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1142;refseq.mrnaCoord_2=880;refseq.name2_1=SGK2;refseq.name2_2=SGK2;refseq.name_1=NM_016276;refseq.name_2=NM_170693;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H308P;refseq.proteinCoordStr_2=p.H248P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=41638327;refseq.start_2=41638327;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr20 41658528 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=242;Dels=0.00;HRun=3;HaplotypeScore=3.22;MQ=98.88;MQ0=0;OQ=4524.09;QD=18.69;RankSumP=0.417693;SB=-1761.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.159G>A;refseq.codonCoord=53;refseq.end=41658528;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=281;refseq.name=NM_016004;refseq.name2=IFT52;refseq.positionType=CDS;refseq.proteinCoordStr=p.V53V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=41658528;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chr20 41762053 . T C 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=335;Dels=0.00;HRun=3;HaplotypeScore=19.96;MQ=98.33;MQ0=0;OQ=8945.58;QD=26.70;RankSumP=1.00000;SB=-1566.23;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.906T>C;refseq.codonCoord=302;refseq.end=41762053;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1121;refseq.name=NM_002466;refseq.name2=MYBL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P302P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-46;refseq.start=41762053;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr20 42176868 . A G 131.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=1242.34;QD=13.65;RankSumP=0.0977429;SB=-560.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2073T>C;refseq.codonCoord=691;refseq.end=42176868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2946;refseq.name=NM_020433;refseq.name2=JPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F691F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-33;refseq.start=42176868;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chr20 42178001 . G C 44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=131.42;QD=16.43;RankSumP=0.0142857;SB=-49.91;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1728C>G;refseq.codonCoord=576;refseq.end=42178001;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2601;refseq.name=NM_020433;refseq.name2=JPH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P576P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-283;refseq.start=42178001;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr20 42373164 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=115;Dels=0.00;HRun=4;HaplotypeScore=8.23;MQ=98.49;MQ0=0;OQ=3512.96;QD=30.55;RankSumP=1.00000;SB=-881.05;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.39A>G;refseq.codonCoord=13;refseq.end=42373164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=140;refseq.name=NM_001080472;refseq.name2=FITM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G13G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-135;refseq.start=42373164;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr20 42399277 . C T 208.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=17.18;MQ=98.27;MQ0=0;OQ=4450.42;QD=18.09;RankSumP=0.0720229;SB=-1284.38;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.66C>T;refseq.codonCoord=22;refseq.end=42399277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_178491;refseq.name2=R3HDML;refseq.positionType=CDS;refseq.proteinCoordStr=p.N22N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-196;refseq.start=42399277;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr20 42399439 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=14.79;MQ=97.98;MQ0=0;OQ=1953.09;QD=10.17;RankSumP=0.0418960;SB=-514.52;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.228T>C;refseq.codonCoord=76;refseq.end=42399439;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=400;refseq.name=NM_178491;refseq.name2=R3HDML;refseq.positionType=CDS;refseq.proteinCoordStr=p.S76S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-34;refseq.start=42399439;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 42490462 . C T 212.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=98.74;MQ0=0;OQ=4134.09;QD=18.46;RankSumP=0.159536;SB=-873.83;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.1203C>T;refseq.codingCoordStr_2=c.1137C>T;refseq.codingCoordStr_3=c.1137C>T;refseq.codingCoordStr_4=c.1203C>T;refseq.codonCoord_1=401;refseq.codonCoord_2=379;refseq.codonCoord_3=379;refseq.codonCoord_4=401;refseq.end_1=42490462;refseq.end_2=42490462;refseq.end_3=42490462;refseq.end_4=42490462;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1292;refseq.mrnaCoord_2=1141;refseq.mrnaCoord_3=1141;refseq.mrnaCoord_4=1292;refseq.name2_1=HNF4A;refseq.name2_2=HNF4A;refseq.name2_3=HNF4A;refseq.name2_4=HNF4A;refseq.name_1=NM_000457;refseq.name_2=NM_001030003;refseq.name_3=NM_175914;refseq.name_4=NM_178849;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N401N;refseq.proteinCoordStr_2=p.N379N;refseq.proteinCoordStr_3=p.N379N;refseq.proteinCoordStr_4=p.N401N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=74;refseq.spliceDist_2=-50;refseq.spliceDist_3=74;refseq.spliceDist_4=-50;refseq.start_1=42490462;refseq.start_2=42490462;refseq.start_3=42490462;refseq.start_4=42490462;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;set=Intersection GT 0/1 chr20 42551431 . G A 140.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=286;Dels=0.00;HRun=0;HaplotypeScore=13.13;MQ=98.47;MQ0=0;OQ=4260.88;QD=14.90;RankSumP=0.102958;SB=-1562.74;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.864G>A;refseq.codingCoordStr_2=c.864G>A;refseq.codonCoord_1=288;refseq.codonCoord_2=288;refseq.end_1=42551431;refseq.end_2=42551431;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=964;refseq.mrnaCoord_2=988;refseq.name2_1=TTPAL;refseq.name2_2=TTPAL;refseq.name_1=NM_001039199;refseq.name_2=NM_024331;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A288A;refseq.proteinCoordStr_2=p.A288A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=114;refseq.spliceDist_2=114;refseq.start_1=42551431;refseq.start_2=42551431;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr20 42698341 . C T 280.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.73;MQ0=0;OQ=2669.98;QD=41.72;RankSumP=1.00000;SB=-887.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.36G>A;refseq.codonCoord=12;refseq.end=42698341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=164;refseq.name=NM_000022;refseq.name2=ADA;refseq.positionType=CDS;refseq.proteinCoordStr=p.V12V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=42698341;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chr20 42812184 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=4.72;MQ=98.62;MQ0=0;OQ=1512.22;QD=16.09;RankSumP=0.480968;SB=-382.97;SecondBestBaseQ=29;refseq.chr=chr20;refseq.codingCoordStr=c.285-1;refseq.end=42812184;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_022358;refseq.name2=KCNK15;refseq.positionType=intron;refseq.spliceDist=-1;refseq.spliceInfo=splice-acceptor_-1;refseq.start=42812184;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr20 42812678 . A C 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=32;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=173.96;QD=5.44;RankSumP=0.482295;SB=-6.99;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.778A>C;refseq.codonCoord=260;refseq.end=42812678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_022358;refseq.name2=KCNK15;refseq.positionType=CDS;refseq.proteinCoordStr=p.T260P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-405;refseq.start=42812678;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chr20 42963648 . A C 205.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=5.61;MQ=97.91;MQ0=0;OQ=5052.31;QD=36.35;RankSumP=1.00000;SB=-1866.66;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.60A>C;refseq.codingCoordStr_2=c.60A>C;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.end_1=42963648;refseq.end_2=42963648;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=342;refseq.mrnaCoord_2=247;refseq.name2_1=YWHAB;refseq.name2_2=YWHAB;refseq.name_1=NM_003404;refseq.name_2=NM_139323;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R20R;refseq.proteinCoordStr_2=p.R20R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=42963648;refseq.start_2=42963648;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr20 42994426 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.45096e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1269T>G;refseq.codonCoord=423;refseq.end=42994426;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1351;refseq.name=NM_001124756;refseq.name2=PABPC1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.C423W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=30;refseq.start=42994426;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr20 43059341 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.811A>C;refseq.codonCoord=271;refseq.end=43059341;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=901;refseq.name=NM_006282;refseq.name2=STK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T271P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-21;refseq.start=43059341;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr20 43062549 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=191;Dels=0.00;HRun=2;HaplotypeScore=2.84;MQ=98.85;MQ0=0;OQ=2734.86;QD=14.32;RankSumP=0.420678;SB=-1207.22;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.934G>A;refseq.codonCoord=312;refseq.end=43062549;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_006282;refseq.name2=STK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V312M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-27;refseq.start=43062549;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr20 43157041 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=99.00;MQ0=0;OQ=933.48;QD=11.25;RankSumP=0.0508119;SB=-205.49;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1465A>G;refseq.codonCoord=489;refseq.end=43157041;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1862;refseq.name=NM_002251;refseq.name2=KCNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I489V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=355;refseq.start=43157041;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr20 43160569 . C T 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.92;MQ0=0;OQ=200.12;QD=25.02;RankSumP=0.583333;SB=-10.00;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.258G>A;refseq.codonCoord=86;refseq.end=43160569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_002251;refseq.name2=KCNS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E86E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=182;refseq.start=43160569;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 43359987 . C T 105.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.62;MQ0=0;OQ=1375.59;QD=13.10;RankSumP=0.351495;SB=-525.93;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1564G>A;refseq.codingCoordStr_2=c.1441G>A;refseq.codingCoordStr_3=c.1318G>A;refseq.codonCoord_1=522;refseq.codonCoord_2=481;refseq.codonCoord_3=440;refseq.end_1=43359987;refseq.end_2=43359987;refseq.end_3=43359987;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1751;refseq.mrnaCoord_2=1628;refseq.mrnaCoord_3=1505;refseq.name2_1=MATN4;refseq.name2_2=MATN4;refseq.name2_3=MATN4;refseq.name_1=NM_003833;refseq.name_2=NM_030590;refseq.name_3=NM_030592;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G522S;refseq.proteinCoordStr_2=p.G481S;refseq.proteinCoordStr_3=p.G440S;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=43359987;refseq.start_2=43359987;refseq.start_3=43359987;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr20 43366435 . G T 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=99.00;MQ0=0;OQ=87.74;QD=8.77;RankSumP=0.636905;SB=-50.71;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.490C>A;refseq.codingCoordStr_2=c.490C>A;refseq.codingCoordStr_3=c.490C>A;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.codonCoord_3=164;refseq.end_1=43366435;refseq.end_2=43366435;refseq.end_3=43366435;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=677;refseq.mrnaCoord_2=677;refseq.mrnaCoord_3=677;refseq.name2_1=MATN4;refseq.name2_2=MATN4;refseq.name2_3=MATN4;refseq.name_1=NM_003833;refseq.name_2=NM_030590;refseq.name_3=NM_030592;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R164S;refseq.proteinCoordStr_2=p.R164S;refseq.proteinCoordStr_3=p.R164S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-154;refseq.spliceDist_2=-154;refseq.spliceDist_3=-154;refseq.start_1=43366435;refseq.start_2=43366435;refseq.start_3=43366435;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 0/1 chr20 43366577 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.11;MQ0=0;OQ=544.83;QD=10.90;RankSumP=0.133074;SB=-91.81;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.348A>G;refseq.codingCoordStr_2=c.348A>G;refseq.codingCoordStr_3=c.348A>G;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.codonCoord_3=116;refseq.end_1=43366577;refseq.end_2=43366577;refseq.end_3=43366577;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=535;refseq.mrnaCoord_2=535;refseq.mrnaCoord_3=535;refseq.name2_1=MATN4;refseq.name2_2=MATN4;refseq.name2_3=MATN4;refseq.name_1=NM_003833;refseq.name_2=NM_030590;refseq.name_3=NM_030592;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A116A;refseq.proteinCoordStr_2=p.A116A;refseq.proteinCoordStr_3=p.A116A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=275;refseq.spliceDist_2=275;refseq.spliceDist_3=275;refseq.start_1=43366577;refseq.start_2=43366577;refseq.start_3=43366577;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr20 43374351 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.000508020;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.521T>G;refseq.codonCoord=174;refseq.end=43374351;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_014276;refseq.name2=RBPJL;refseq.positionType=CDS;refseq.proteinCoordStr=p.V174G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=77;refseq.start=43374351;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 43437570 . A T 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.641389;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.291T>A;refseq.codonCoord_2=97;refseq.end_1=43470503;refseq.end_2=43437570;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=372;refseq.name2_1=SYS1-DBNDD2;refseq.name2_2=TP53TG5;refseq.name_1=NR_003189;refseq.name_2=NM_014477;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N97K;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=37;refseq.start_1=43427751;refseq.start_2=43437570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=soap GT 0/1 chr20 43437572 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.0940455;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.289A>G;refseq.codonCoord_2=97;refseq.end_1=43470503;refseq.end_2=43437572;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=370;refseq.name2_1=SYS1-DBNDD2;refseq.name2_2=TP53TG5;refseq.name_1=NR_003189;refseq.name_2=NM_014477;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N97D;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=35;refseq.start_1=43427751;refseq.start_2=43437572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=soap GT 1/0 chr20 43437573 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=4;RankSumP=0.516320;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.288T>A;refseq.codonCoord_2=96;refseq.end_1=43470503;refseq.end_2=43437573;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=369;refseq.name2_1=SYS1-DBNDD2;refseq.name2_2=TP53TG5;refseq.name_1=NR_003189;refseq.name_2=NM_014477;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N96K;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=34;refseq.start_1=43427751;refseq.start_2=43437573;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=soap GT 0/1 chr20 43437575 . T G 58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0978346;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.286A>C;refseq.codonCoord_2=96;refseq.end_1=43470503;refseq.end_2=43437575;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=367;refseq.name2_1=SYS1-DBNDD2;refseq.name2_2=TP53TG5;refseq.name_1=NR_003189;refseq.name_2=NM_014477;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N96H;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_2=32;refseq.start_1=43427751;refseq.start_2=43437575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=soap GT 1/0 chr20 43471988 . A G 11.45 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=11.45;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.changesAA_6=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.chr_6=chr20;refseq.chr_7=chr20;refseq.codingCoordStr_2=c.280A>G;refseq.codingCoordStr_3=c.*39A>G;refseq.codingCoordStr_4=c.280A>G;refseq.codingCoordStr_5=c.*39A>G;refseq.codingCoordStr_6=c.280A>G;refseq.codingCoordStr_7=c.*39A>G;refseq.codonCoord_2=94;refseq.codonCoord_4=94;refseq.codonCoord_6=94;refseq.end_1=43471988;refseq.end_2=43471988;refseq.end_3=43471988;refseq.end_4=43471988;refseq.end_5=43471988;refseq.end_6=43471988;refseq.end_7=43471988;refseq.frame_2=0;refseq.frame_4=0;refseq.frame_6=0;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=false;refseq.mrnaCoord_1=637;refseq.mrnaCoord_2=468;refseq.mrnaCoord_3=566;refseq.mrnaCoord_4=424;refseq.mrnaCoord_5=522;refseq.mrnaCoord_6=473;refseq.mrnaCoord_7=571;refseq.name2_1=SYS1-DBNDD2;refseq.name2_2=DBNDD2;refseq.name2_3=DBNDD2;refseq.name2_4=DBNDD2;refseq.name2_5=DBNDD2;refseq.name2_6=DBNDD2;refseq.name2_7=DBNDD2;refseq.name_1=NR_003189;refseq.name_2=NM_001048221;refseq.name_3=NM_001048222;refseq.name_4=NM_001048223;refseq.name_5=NM_001048224;refseq.name_6=NM_001048225;refseq.name_7=NM_001048226;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.positionType_5=utr3;refseq.positionType_6=CDS;refseq.positionType_7=utr3;refseq.proteinCoordStr_2=p.M94V;refseq.proteinCoordStr_4=p.M94V;refseq.proteinCoordStr_6=p.M94V;refseq.referenceAA_2=Met;refseq.referenceAA_4=Met;refseq.referenceAA_6=Met;refseq.referenceCodon_2=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_6=ATG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceDist_5=3;refseq.spliceDist_6=3;refseq.spliceDist_7=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.spliceInfo_5=splice-acceptor_3;refseq.spliceInfo_6=splice-acceptor_3;refseq.spliceInfo_7=splice-acceptor_3;refseq.start_1=43471988;refseq.start_2=43471988;refseq.start_3=43471988;refseq.start_4=43471988;refseq.start_5=43471988;refseq.start_6=43471988;refseq.start_7=43471988;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_2=Val;refseq.variantAA_4=Val;refseq.variantAA_6=Val;refseq.variantCodon_2=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_6=GTG;set=FilteredInAll GT 1/1 chr20 43486406 . G A 253.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=98.50;MQ0=0;OQ=1727.64;QD=16.45;RankSumP=0.315827;SB=-872.88;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1371G>A;refseq.codonCoord=457;refseq.end=43486406;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_015937;refseq.name2=PIGT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T457T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-30;refseq.start=43486406;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr20 43487763 . T C 268.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=98.61;MQ0=0;OQ=2080.41;QD=33.02;RankSumP=1.00000;SB=-462.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1620T>C;refseq.codonCoord=540;refseq.end=43487763;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1693;refseq.name=NM_015937;refseq.name2=PIGT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y540Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=136;refseq.start=43487763;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr20 43607837 . G A 328.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=7.57;MQ=98.65;MQ0=0;OQ=8143.68;QD=21.95;RankSumP=0.352853;SB=-2087.72;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.30C>T;refseq.codonCoord_2=10;refseq.end_1=43609309;refseq.end_2=43607837;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=594;refseq.name2_1=SPINLW1;refseq.name2_2=SPINLW1;refseq.name_1=NM_020398;refseq.name_2=NM_181502;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T10T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-146;refseq.start_1=43607834;refseq.start_2=43607837;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chr20 43617789 . T C 345.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=4.98;MQ=98.86;MQ0=0;OQ=4863.35;QD=21.15;RankSumP=0.305849;SB=-1935.02;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.410A>G;refseq.codingCoordStr_2=c.410A>G;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=43617789;refseq.end_2=43617789;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=489;refseq.mrnaCoord_2=489;refseq.name2_1=WFDC8;refseq.name2_2=WFDC8;refseq.name_1=NM_130896;refseq.name_2=NM_181510;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N137S;refseq.proteinCoordStr_2=p.N137S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=43617789;refseq.start_2=43617789;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/0 chr20 43672155 . T G 139.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=1;HaplotypeScore=5.63;MQ=98.50;MQ0=0;OQ=1596.54;QD=13.76;RankSumP=0.210811;SB=-661.87;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.80A>C;refseq.codonCoord=27;refseq.end=43672155;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=298;refseq.name=NM_147198;refseq.name2=WFDC9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N27T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-12;refseq.start=43672155;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chr20 43748023 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=229;Dels=0.00;HRun=1;HaplotypeScore=21.18;MQ=86.81;MQ0=17;OQ=2952.10;QD=12.89;RankSumP=0.317421;SB=-977.21;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.23T>C;refseq.codonCoord_2=8;refseq.end_1=43766539;refseq.end_2=43748023;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=254;refseq.name2_1=WFDC10B;refseq.name2_2=WFDC10B;refseq.name_1=NM_172131;refseq.name_2=NM_172006;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L8P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTT;refseq.spliceDist_2=-69;refseq.start_1=43747024;refseq.start_2=43748023;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr20 43786034 . G A 331.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=8.28;MQ=98.80;MQ0=0;OQ=4046.78;QD=18.91;RankSumP=0.271101;SB=-1164.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.217G>A;refseq.codonCoord=73;refseq.end=43786034;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=236;refseq.name=NM_178455;refseq.name2=SPINT4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G73S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-77;refseq.start=43786034;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 43839152 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.462T>G;refseq.codonCoord=154;refseq.end=43839152;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_080614;refseq.name2=WFDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C154W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-32;refseq.start=43839152;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr20 43851050 . A G 305.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=7.67;MQ=98.72;MQ0=0;OQ=7077.54;QD=19.66;RankSumP=0.317624;SB=-953.00;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.138T>C;refseq.codonCoord=46;refseq.end=43851050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=222;refseq.name=NM_080614;refseq.name2=WFDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G46G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=56;refseq.start=43851050;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr20 43851082 . G C 261.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=98.62;MQ0=0;OQ=4136.52;QD=19.42;RankSumP=0.272273;SB=-574.18;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.106C>G;refseq.codonCoord=36;refseq.end=43851082;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=190;refseq.name=NM_080614;refseq.name2=WFDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H36D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=24;refseq.start=43851082;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr20 43851971 . A G 219.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=313;Dels=0.00;HRun=1;HaplotypeScore=8.20;MQ=98.78;MQ0=0;OQ=5990.89;QD=19.14;RankSumP=0.195726;SB=-2294.92;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.51T>C;refseq.codonCoord=17;refseq.end=43851971;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_080614;refseq.name2=WFDC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S17S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-32;refseq.start=43851971;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr20 43854089 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=88.79;MQ0=0;OQ=58.40;QD=4.87;RankSumP=0.662121;SB=-35.92;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.39T>C;refseq.codonCoord=13;refseq.end=43854089;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=107;refseq.name=NM_052951;refseq.name2=DNTTIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P13P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-67;refseq.start=43854089;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chr20 43854757 . T G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.0282627;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.140T>G;refseq.codonCoord=47;refseq.end=43854757;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=208;refseq.name=NM_052951;refseq.name2=DNTTIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V47G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=35;refseq.start=43854757;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr20 43886104 . C A 213.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.17;MQ0=0;OQ=1241.04;QD=16.12;RankSumP=0.460637;SB=-265.40;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.384G>T;refseq.codonCoord=128;refseq.end=43886104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=450;refseq.name=NM_003279;refseq.name2=TNNC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T128T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-68;refseq.start=43886104;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr20 43902697 . G A 250.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=98.83;MQ0=0;OQ=1494.16;QD=18.45;RankSumP=0.354520;SB=-406.45;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.453G>A;refseq.codingCoordStr_2=c.471G>A;refseq.codingCoordStr_3=c.460G>A;refseq.codingCoordStr_4=c.460G>A;refseq.codonCoord_1=151;refseq.codonCoord_2=157;refseq.codonCoord_3=154;refseq.codonCoord_4=154;refseq.end_1=43902697;refseq.end_2=43902697;refseq.end_3=43902697;refseq.end_4=43902697;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=542;refseq.mrnaCoord_2=560;refseq.mrnaCoord_3=549;refseq.mrnaCoord_4=549;refseq.name2_1=SNX21;refseq.name2_2=SNX21;refseq.name2_3=SNX21;refseq.name2_4=SNX21;refseq.name_1=NM_001042632;refseq.name_2=NM_001042633;refseq.name_3=NM_033421;refseq.name_4=NM_152897;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S151S;refseq.proteinCoordStr_2=p.S157S;refseq.proteinCoordStr_3=p.A154T;refseq.proteinCoordStr_4=p.A154T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.spliceDist_3=13;refseq.spliceDist_4=13;refseq.start_1=43902697;refseq.start_2=43902697;refseq.start_3=43902697;refseq.start_4=43902697;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/0 chr20 43939380 . T C 225.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.69;MQ0=0;OQ=5248.94;QD=21.51;RankSumP=0.374753;SB=-1547.83;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.776T>C;refseq.codonCoord=259;refseq.end=43939380;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=979;refseq.name=NM_080752;refseq.name2=ZSWIM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V259A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=621;refseq.start=43939380;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr20 43939825 . G A 338.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.68;MQ0=0;OQ=5063.36;QD=18.48;RankSumP=0.265880;SB=-1980.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1221G>A;refseq.codonCoord=407;refseq.end=43939825;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1424;refseq.name=NM_080752;refseq.name2=ZSWIM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R407R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=1066;refseq.start=43939825;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/0 chr20 43945480 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=495;Dels=0.00;HRun=2;HaplotypeScore=55.01;MQ=98.30;MQ0=0;OQ=388.90;QD=0.79;RankSumP=0.00000;SB=757.56;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.842C>T;refseq.codonCoord=281;refseq.end=43945480;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_080603;refseq.name2=ZSWIM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S281F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=902;refseq.start=43945480;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr20 44009608 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1922T>G;refseq.codonCoord=641;refseq.end=44009608;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2236;refseq.name=NM_022104;refseq.name2=PCIF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V641G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=39;refseq.start=44009608;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 44015842 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=98.60;MQ0=0;OQ=1896.27;QD=13.45;RankSumP=0.0823408;SB=-689.45;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2595C>A;refseq.codonCoord=865;refseq.end=44015842;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2718;refseq.name=NM_022095;refseq.name2=ZNF335;refseq.positionType=CDS;refseq.proteinCoordStr=p.D865E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-108;refseq.start=44015842;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 44029614 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=393;Dels=0.00;HRun=2;HaplotypeScore=13.57;MQ=98.18;MQ0=0;OQ=15728.29;QD=40.02;RankSumP=1.00000;SB=-5560.42;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.881G>C;refseq.codonCoord=294;refseq.end=44029614;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1004;refseq.name=NM_022095;refseq.name2=ZNF335;refseq.positionType=CDS;refseq.proteinCoordStr=p.S294T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=67;refseq.start=44029614;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr20 44029952 . G A 190.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=98.10;MQ0=0;OQ=1534.28;QD=17.64;RankSumP=0.00528374;SB=-788.26;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.642C>T;refseq.codonCoord=214;refseq.end=44029952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=765;refseq.name=NM_022095;refseq.name2=ZNF335;refseq.positionType=CDS;refseq.proteinCoordStr=p.S214S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=122;refseq.start=44029952;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/0 chr20 44031643 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=91;Dels=0.00;HRun=4;HaplotypeScore=9.19;MQ=96.71;MQ0=0;OQ=66.66;QD=0.73;RankSumP=0.00000;SB=125.42;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.296T>G;refseq.codonCoord=99;refseq.end=44031643;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_022095;refseq.name2=ZNF335;refseq.positionType=CDS;refseq.proteinCoordStr=p.V99G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=95;refseq.start=44031643;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 44075813 . G C 236.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=98.16;MQ0=0;OQ=1982.36;QD=43.09;RankSumP=1.00000;SB=-874.52;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1721G>C;refseq.codonCoord=574;refseq.end=44075813;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1740;refseq.name=NM_004994;refseq.name2=MMP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R574P;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-30;refseq.start=44075813;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr20 44076240 . A C 29.92 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=9.97;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1821A>C;refseq.codonCoord=607;refseq.end=44076240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1840;refseq.name=NM_004994;refseq.name2=MMP9;refseq.positionType=CDS;refseq.proteinCoordStr=p.G607G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=71;refseq.start=44076240;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/1 chr20 44097854 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.380A>C;refseq.codingCoordStr_2=c.311A>C;refseq.codonCoord_1=127;refseq.codonCoord_2=104;refseq.end_1=44097854;refseq.end_2=44097854;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=456;refseq.mrnaCoord_2=474;refseq.name2_1=SLC12A5;refseq.name2_2=SLC12A5;refseq.name_1=NM_001134771;refseq.name_2=NM_020708;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y127S;refseq.proteinCoordStr_2=p.Y104S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=44097854;refseq.start_2=44097854;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr20 44111755 . G A 131.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=98.56;MQ0=0;OQ=2440.78;QD=39.37;RankSumP=1.00000;SB=-1107.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2169G>A;refseq.codingCoordStr_2=c.2100G>A;refseq.codonCoord_1=723;refseq.codonCoord_2=700;refseq.end_1=44111755;refseq.end_2=44111755;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2245;refseq.mrnaCoord_2=2263;refseq.name2_1=SLC12A5;refseq.name2_2=SLC12A5;refseq.name_1=NM_001134771;refseq.name_2=NM_020708;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A723A;refseq.proteinCoordStr_2=p.A700A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=44111755;refseq.start_2=44111755;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr20 44113819 . C T 102.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=99.10;MQ0=0;OQ=1460.02;QD=13.90;RankSumP=0.112600;SB=-742.63;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2349C>T;refseq.codingCoordStr_2=c.2280C>T;refseq.codonCoord_1=783;refseq.codonCoord_2=760;refseq.end_1=44113819;refseq.end_2=44113819;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2425;refseq.mrnaCoord_2=2443;refseq.name2_1=SLC12A5;refseq.name2_2=SLC12A5;refseq.name_1=NM_001134771;refseq.name_2=NM_020708;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S783S;refseq.proteinCoordStr_2=p.S760S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=-98;refseq.spliceDist_2=-98;refseq.start_1=44113819;refseq.start_2=44113819;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr20 44124757 . T G 139.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=146;Dels=0.00;HRun=1;HaplotypeScore=5.12;MQ=98.31;MQ0=0;OQ=2160.22;QD=14.80;RankSumP=0.00926946;SB=-523.61;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1329A>C;refseq.codonCoord=443;refseq.end=44124757;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1483;refseq.name=NM_020967;refseq.name2=NCOA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T443T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=179;refseq.start=44124757;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 1/0 chr20 44180389 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=182;Dels=0.00;HRun=1;HaplotypeScore=12.16;MQ=98.43;MQ0=0;OQ=1889.96;QD=10.38;RankSumP=0.313351;SB=-88.78;SecondBestBaseQ=24;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.-1T>C;refseq.codingCoordStr_2=c.-1T>C;refseq.end_1=44180389;refseq.end_2=44180389;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=77;refseq.mrnaCoord_2=77;refseq.name2_1=CD40;refseq.name2_2=CD40;refseq.name_1=NM_001250;refseq.name_2=NM_152854;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=44180389;refseq.start_2=44180389;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr20 44429589 . A G 413.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=98.79;MQ0=0;OQ=9049.81;QD=38.51;RankSumP=1.00000;SB=-3363.46;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1980T>C;refseq.codingCoordStr_2=c.1980T>C;refseq.codonCoord_1=660;refseq.codonCoord_2=660;refseq.end_1=44429589;refseq.end_2=44429589;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2190;refseq.mrnaCoord_2=2086;refseq.name2_1=ELMO2;refseq.name2_2=ELMO2;refseq.name_1=NM_133171;refseq.name_2=NM_182764;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D660D;refseq.proteinCoordStr_2=p.D660D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=44429589;refseq.start_2=44429589;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr20 44628311 . C G 306.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=3.82;MQ=98.12;MQ0=0;OQ=3814.81;QD=40.16;RankSumP=1.00000;SB=-1348.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1317G>C;refseq.codingCoordStr_2=c.1458G>C;refseq.codonCoord_1=439;refseq.codonCoord_2=486;refseq.end_1=44628311;refseq.end_2=44628311;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1517;refseq.mrnaCoord_2=1496;refseq.name2_1=SLC13A3;refseq.name2_2=SLC13A3;refseq.name_1=NM_001011554;refseq.name_2=NM_022829;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A439A;refseq.proteinCoordStr_2=p.A486A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.start_1=44628311;refseq.start_2=44628311;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr20 44675676 . G C 181.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=99.00;MQ0=0;OQ=1385.16;QD=20.37;RankSumP=0.334071;SB=-258.33;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.66C>G;refseq.codingCoordStr_2=c.207C>G;refseq.codonCoord_1=22;refseq.codonCoord_2=69;refseq.end_1=44675676;refseq.end_2=44675676;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=245;refseq.name2_1=SLC13A3;refseq.name2_2=SLC13A3;refseq.name_1=NM_001011554;refseq.name_2=NM_022829;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L22L;refseq.proteinCoordStr_2=p.L69L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=96;refseq.spliceDist_2=96;refseq.start_1=44675676;refseq.start_2=44675676;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 0/1 chr20 44749176 . T C 207.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.52;MQ0=0;OQ=1407.72;QD=16.96;RankSumP=0.0135494;SB=-493.30;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.385A>G;refseq.codonCoord=129;refseq.end=44749176;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_033550;refseq.name2=TP53RK;refseq.positionType=CDS;refseq.proteinCoordStr=p.T129A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=102;refseq.start=44749176;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 44791412 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1425G>T;refseq.codonCoord=475;refseq.end=44791412;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1522;refseq.name=NM_030777;refseq.name2=SLC2A10;refseq.positionType=CDS;refseq.proteinCoordStr=p.L475F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=14;refseq.start=44791412;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr20 45274726 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.3398A>C;refseq.codonCoord_3=1133;refseq.end_1=45282305;refseq.end_2=45282305;refseq.end_3=45274726;refseq.frame_3=1;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=3458;refseq.name2_1=ZMYND8;refseq.name2_2=ZMYND8;refseq.name2_3=ZMYND8;refseq.name_1=NM_012408;refseq.name_2=NM_183048;refseq.name_3=NM_183047;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.H1133P;refseq.referenceAA_3=His;refseq.referenceCodon_3=CAC;refseq.spliceDist_3=-33;refseq.start_1=45272960;refseq.start_2=45272960;refseq.start_3=45274726;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chr20 45286444 . A G 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=280;Dels=0.00;HRun=1;HaplotypeScore=17.30;MQ=98.60;MQ0=0;OQ=10391.33;QD=37.11;RankSumP=1.00000;SB=-4129.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.3051T>C;refseq.codingCoordStr_2=c.3051T>C;refseq.codingCoordStr_3=c.2976T>C;refseq.codonCoord_1=1017;refseq.codonCoord_2=1017;refseq.codonCoord_3=992;refseq.end_1=45286444;refseq.end_2=45286444;refseq.end_3=45286444;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3111;refseq.mrnaCoord_2=3111;refseq.mrnaCoord_3=3036;refseq.name2_1=ZMYND8;refseq.name2_2=ZMYND8;refseq.name2_3=ZMYND8;refseq.name_1=NM_012408;refseq.name_2=NM_183047;refseq.name_3=NM_183048;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T1017T;refseq.proteinCoordStr_2=p.T1017T;refseq.proteinCoordStr_3=p.T992T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.spliceDist_3=-68;refseq.start_1=45286444;refseq.start_2=45286444;refseq.start_3=45286444;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 1/1 chr20 45338770 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1175A>C;refseq.codingCoordStr_2=c.1175A>C;refseq.codingCoordStr_3=c.1100A>C;refseq.codonCoord_1=392;refseq.codonCoord_2=392;refseq.codonCoord_3=367;refseq.end_1=45338770;refseq.end_2=45338770;refseq.end_3=45338770;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1235;refseq.mrnaCoord_2=1235;refseq.mrnaCoord_3=1160;refseq.name2_1=ZMYND8;refseq.name2_2=ZMYND8;refseq.name2_3=ZMYND8;refseq.name_1=NM_012408;refseq.name_2=NM_183047;refseq.name_3=NM_183048;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N392T;refseq.proteinCoordStr_2=p.N392T;refseq.proteinCoordStr_3=p.N367T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=177;refseq.spliceDist_2=177;refseq.spliceDist_3=177;refseq.start_1=45338770;refseq.start_2=45338770;refseq.start_3=45338770;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 1/0 chr20 45698647 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.2110G>A;refseq.codingCoordStr_2=c.2140G>A;refseq.codingCoordStr_3=c.2110G>A;refseq.codingCoordStr_4=c.2110G>A;refseq.codonCoord_1=704;refseq.codonCoord_2=714;refseq.codonCoord_3=704;refseq.codonCoord_4=704;refseq.end_1=45698647;refseq.end_2=45698647;refseq.end_3=45698647;refseq.end_4=45698647;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2371;refseq.mrnaCoord_2=2401;refseq.mrnaCoord_3=2371;refseq.mrnaCoord_4=2371;refseq.name2_1=NCOA3;refseq.name2_2=NCOA3;refseq.name2_3=NCOA3;refseq.name2_4=NCOA3;refseq.name_1=NM_001174087;refseq.name_2=NM_001174088;refseq.name_3=NM_006534;refseq.name_4=NM_181659;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E704K;refseq.proteinCoordStr_2=p.E714K;refseq.proteinCoordStr_3=p.E704K;refseq.proteinCoordStr_4=p.E704K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=-267;refseq.spliceDist_2=-267;refseq.spliceDist_3=-267;refseq.spliceDist_4=-267;refseq.start_1=45698647;refseq.start_2=45698647;refseq.start_3=45698647;refseq.start_4=45698647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 1/0 chr20 45701900 . A G 163.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=207;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=98.94;MQ0=0;OQ=2909.48;QD=14.06;RankSumP=0.238026;SB=-539.23;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.2880A>G;refseq.codingCoordStr_2=c.2865A>G;refseq.codingCoordStr_3=c.2880A>G;refseq.codingCoordStr_4=c.2880A>G;refseq.codonCoord_1=960;refseq.codonCoord_2=955;refseq.codonCoord_3=960;refseq.codonCoord_4=960;refseq.end_1=45701900;refseq.end_2=45701900;refseq.end_3=45701900;refseq.end_4=45701900;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3141;refseq.mrnaCoord_2=3126;refseq.mrnaCoord_3=3141;refseq.mrnaCoord_4=3141;refseq.name2_1=NCOA3;refseq.name2_2=NCOA3;refseq.name2_3=NCOA3;refseq.name2_4=NCOA3;refseq.name_1=NM_001174087;refseq.name_2=NM_001174088;refseq.name_3=NM_006534;refseq.name_4=NM_181659;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T960T;refseq.proteinCoordStr_2=p.T955T;refseq.proteinCoordStr_3=p.T960T;refseq.proteinCoordStr_4=p.T960T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-74;refseq.spliceDist_2=-74;refseq.spliceDist_3=-74;refseq.spliceDist_4=-74;refseq.start_1=45701900;refseq.start_2=45701900;refseq.start_3=45701900;refseq.start_4=45701900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;set=Intersection GT 0/1 chr20 45725739 . A C 13 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=3.61589e-09;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.2092T>G;refseq.codingCoordStr_2=c.2092T>G;refseq.codingCoordStr_3=c.2092T>G;refseq.codonCoord_1=698;refseq.codonCoord_2=698;refseq.codonCoord_3=698;refseq.end_1=45725739;refseq.end_2=45725739;refseq.end_3=45725739;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2761;refseq.mrnaCoord_2=2422;refseq.mrnaCoord_3=2761;refseq.name2_1=SULF2;refseq.name2_2=SULF2;refseq.name2_3=SULF2;refseq.name_1=NM_001161841;refseq.name_2=NM_018837;refseq.name_3=NM_198596;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L698V;refseq.proteinCoordStr_2=p.L698V;refseq.proteinCoordStr_3=p.L698V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=45725739;refseq.start_2=45725739;refseq.start_3=45725739;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;set=FilteredInAll GT 0/1 chr20 45798978 . A G 103.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=7.54;MQ=98.92;MQ0=0;OQ=3089.13;QD=12.11;RankSumP=0.000183929;SB=-1051.71;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.291T>C;refseq.codingCoordStr_2=c.291T>C;refseq.codingCoordStr_3=c.291T>C;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.codonCoord_3=97;refseq.end_1=45798978;refseq.end_2=45798978;refseq.end_3=45798978;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=960;refseq.mrnaCoord_2=621;refseq.mrnaCoord_3=960;refseq.name2_1=SULF2;refseq.name2_2=SULF2;refseq.name2_3=SULF2;refseq.name_1=NM_001161841;refseq.name_2=NM_018837;refseq.name_3=NM_198596;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T97T;refseq.proteinCoordStr_2=p.T97T;refseq.proteinCoordStr_3=p.T97T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=116;refseq.spliceDist_2=116;refseq.spliceDist_3=116;refseq.start_1=45798978;refseq.start_2=45798978;refseq.start_3=45798978;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=filterInsoap-gatk GT 0/1 chr20 46677857 . G A 264.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=97.88;MQ0=0;OQ=4293.25;QD=19.17;RankSumP=0.0388424;SB=-1594.04;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4818C>T;refseq.codonCoord=1606;refseq.end=46677857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4841;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1606H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=52;refseq.start=46677857;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr20 46679484 . C G 214.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=98.82;MQ0=0;OQ=561.17;QD=17.54;RankSumP=0.627555;SB=-269.39;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4676G>C;refseq.codonCoord=1559;refseq.end=46679484;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4699;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1559T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=83;refseq.start=46679484;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr20 46679534 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.86;MQ0=0;OQ=321.11;QD=7.83;RankSumP=0.692888;SB=-55.19;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4626C>T;refseq.codonCoord=1542;refseq.end=46679534;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4649;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1542L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=33;refseq.start=46679534;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr20 46682313 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=1;RankSumP=7.73930e-09;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4435C>G;refseq.codonCoord=1479;refseq.end=46682313;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4458;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1479A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=24;refseq.start=46682313;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 0/1 chr20 46682523 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=9.60;MQ=97.98;MQ0=0;OQ=1771.61;QD=12.75;RankSumP=0.0870918;SB=-820.51;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4329C>T;refseq.codonCoord=1443;refseq.end=46682523;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4352;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1443L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=62;refseq.start=46682523;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr20 46682577 . G A 49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=9.32;MQ=98.20;MQ0=0;OQ=1465.48;QD=8.57;RankSumP=0.269767;SB=-432.96;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4275C>T;refseq.codonCoord=1425;refseq.end=46682577;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4298;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1425N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=46682577;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr20 46686557 . T C 104.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=16.27;MQ=92.67;MQ0=0;OQ=1669.74;QD=20.12;RankSumP=1.00000;SB=-673.91;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4018A>G;refseq.codonCoord=1340;refseq.end=46686557;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4041;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1340E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=72;refseq.start=46686557;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr20 46692170 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=13.77;MQ=98.65;MQ0=0;OQ=5676.25;QD=21.26;RankSumP=0.470507;SB=-1814.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3718G>A;refseq.codonCoord=1240;refseq.end=46692170;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3741;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1240I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=34;refseq.start=46692170;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr20 46694424 . T C 345.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.01;MQ0=0;OQ=6493.87;QD=40.33;RankSumP=1.00000;SB=-2244.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3531A>G;refseq.codonCoord=1177;refseq.end=46694424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3554;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1177R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=19;refseq.start=46694424;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr20 46700887 . A G 244.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=325;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=98.63;MQ0=0;OQ=5596.72;QD=17.22;RankSumP=0.154844;SB=-1996.40;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2769T>C;refseq.codonCoord=923;refseq.end=46700887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2792;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C923C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-49;refseq.start=46700887;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr20 46701347 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.65;MQ0=0;OQ=865.39;QD=12.36;RankSumP=0.490532;SB=-163.65;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2649C>T;refseq.codonCoord=883;refseq.end=46701347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2672;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T883T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=46701347;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr20 46702640 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=11.55;MQ=98.03;MQ0=0;OQ=2214.45;QD=13.84;RankSumP=0.0730250;SB=-461.03;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2358G>C;refseq.codonCoord=786;refseq.end=46702640;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2381;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q786H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=12;refseq.start=46702640;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr20 46707133 . C T 128.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=98.77;MQ0=0;OQ=3872.46;QD=23.61;RankSumP=0.323813;SB=-1462.97;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1975G>A;refseq.codonCoord=659;refseq.end=46707133;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1998;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V659M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=46707133;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr20 46784502 . G A 301.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.84;MQ0=0;OQ=3077.40;QD=17.89;RankSumP=0.336804;SB=-776.27;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.507C>T;refseq.codonCoord=169;refseq.end=46784502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_020820;refseq.name2=PREX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R169R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-13;refseq.start=46784502;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr20 46991824 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=750;Dels=0.00;HRun=0;HaplotypeScore=9.94;MQ=98.93;MQ0=0;OQ=15783.76;QD=21.05;RankSumP=0.395196;SB=-6746.47;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.169C>T;refseq.codonCoord=57;refseq.end=46991824;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=321;refseq.name=NM_006420;refseq.name2=ARFGEF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P57S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=17;refseq.start=46991824;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr20 47122364 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=449;Dels=0.00;HRun=1;HaplotypeScore=7.34;MQ=98.87;MQ0=0;OQ=9042.49;QD=20.14;RankSumP=0.326040;SB=-3348.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.903A>G;refseq.codonCoord=301;refseq.end=47122364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_001316;refseq.name2=CSE1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L301L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=-34;refseq.start=47122364;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr20 47283589 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=307;Dels=0.00;HRun=2;HaplotypeScore=3.47;MQ=98.76;MQ0=0;OQ=11832.38;QD=38.54;RankSumP=1.00000;SB=-3369.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1302C>T;refseq.codonCoord=434;refseq.end=47283589;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1363;refseq.name=NM_017895;refseq.name2=DDX27;refseq.positionType=CDS;refseq.proteinCoordStr=p.F434F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-65;refseq.start=47283589;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chr20 47283600 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1313A>G;refseq.codonCoord=438;refseq.end=47283600;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1374;refseq.name=NM_017895;refseq.name2=DDX27;refseq.positionType=CDS;refseq.proteinCoordStr=p.E438G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-54;refseq.start=47283600;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 47298779 . G A 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=555;Dels=0.00;HRun=1;HaplotypeScore=10.83;MQ=98.74;MQ0=0;OQ=23401.90;QD=42.17;RankSumP=1.00000;SB=-10149.44;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4189C>T;refseq.codonCoord=1397;refseq.end=47298779;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4436;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1397L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=877;refseq.start=47298779;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr20 47298916 . G A 351.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=8649.71;QD=40.61;RankSumP=1.00000;SB=-4008.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4052C>T;refseq.codonCoord=1351;refseq.end=47298916;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4299;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1351I;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=740;refseq.start=47298916;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr20 47305784 . C G 72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=258;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=98.48;MQ0=0;OQ=12008.63;QD=46.55;RankSumP=1.00000;SB=-5317.02;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2772G>C;refseq.codonCoord=924;refseq.end=47305784;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3019;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q924H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-33;refseq.start=47305784;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr20 47320091 . G A 307.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=98.36;MQ0=0;OQ=7729.15;QD=42.47;RankSumP=1.00000;SB=-1914.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1665C>T;refseq.codonCoord=555;refseq.end=47320091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1912;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y555Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-206;refseq.start=47320091;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr20 47321348 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.408A>C;refseq.codonCoord=136;refseq.end=47321348;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=655;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E136D;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=347;refseq.start=47321348;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr20 47321642 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.114A>C;refseq.codonCoord=38;refseq.end=47321642;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=361;refseq.name=NM_021035;refseq.name2=ZNFX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P38P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=53;refseq.start=47321642;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 47690556 . C T 248.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=98.91;MQ0=0;OQ=5721.36;QD=43.34;RankSumP=1.00000;SB=-1203.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.660G>A;refseq.codonCoord=220;refseq.end=47690556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_004776;refseq.name2=B4GALT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E220E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=54;refseq.start=47690556;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chr20 47692441 . A G 313.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=98.82;MQ0=0;OQ=7234.08;QD=42.30;RankSumP=1.00000;SB=-1835.73;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.577T>C;refseq.codonCoord=193;refseq.end=47692441;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=771;refseq.name=NM_004776;refseq.name2=B4GALT5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L193L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-30;refseq.start=47692441;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr20 47924665 . T G 227.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.78;MQ0=0;OQ=4164.05;QD=19.55;RankSumP=0.279568;SB=-367.05;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.975T>G;refseq.codonCoord=325;refseq.end=47924665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1185;refseq.name=NM_015266;refseq.name2=SLC9A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L325L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=17;refseq.start=47924665;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr20 47955737 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=15.87;MQ=98.33;MQ0=0;OQ=1127.65;QD=8.35;RankSumP=0.0661536;SB=-510.52;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1389C>T;refseq.codingCoordStr_2=c.1389C>T;refseq.codonCoord_1=463;refseq.codonCoord_2=463;refseq.end_1=47955737;refseq.end_2=47955737;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1739;refseq.mrnaCoord_2=1655;refseq.name2_1=SPATA2;refseq.name2_2=SPATA2;refseq.name_1=NM_001135773;refseq.name_2=NM_006038;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C463C;refseq.proteinCoordStr_2=p.C463C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=1053;refseq.spliceDist_2=1053;refseq.start_1=47955737;refseq.start_2=47955737;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr20 47955992 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=98.05;MQ0=0;OQ=426.10;QD=11.21;RankSumP=0.665694;SB=-152.13;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1134C>T;refseq.codingCoordStr_2=c.1134C>T;refseq.codonCoord_1=378;refseq.codonCoord_2=378;refseq.end_1=47955992;refseq.end_2=47955992;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1484;refseq.mrnaCoord_2=1400;refseq.name2_1=SPATA2;refseq.name2_2=SPATA2;refseq.name_1=NM_001135773;refseq.name_2=NM_006038;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S378S;refseq.proteinCoordStr_2=p.S378S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.spliceDist_1=798;refseq.spliceDist_2=798;refseq.start_1=47955992;refseq.start_2=47955992;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr20 47958234 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.55;MQ0=0;OQ=1357.27;QD=11.70;RankSumP=0.0757974;SB=-327.36;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.201T>C;refseq.codingCoordStr_2=c.201T>C;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.end_1=47958234;refseq.end_2=47958234;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=551;refseq.mrnaCoord_2=467;refseq.name2_1=SPATA2;refseq.name2_2=SPATA2;refseq.name_1=NM_001135773;refseq.name_2=NM_006038;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y67Y;refseq.proteinCoordStr_2=p.Y67Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=-136;refseq.spliceDist_2=-136;refseq.start_1=47958234;refseq.start_2=47958234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr20 48033964 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.56;MQ0=0;OQ=1141.98;QD=10.38;RankSumP=0.319175;SB=-580.04;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.279T>C;refseq.codonCoord=93;refseq.end=48033964;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=349;refseq.name=NM_005985;refseq.name2=SNAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D93D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=197;refseq.start=48033964;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr20 48034038 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=6.70;MQ=98.39;MQ0=0;OQ=1632.21;QD=9.72;RankSumP=0.301758;SB=-833.33;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.353T>C;refseq.codonCoord=118;refseq.end=48034038;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=423;refseq.name=NM_005985;refseq.name2=SNAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V118A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-258;refseq.start=48034038;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr20 48034216 . G A 119.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=844.71;QD=17.60;RankSumP=0.245735;SB=-397.54;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.531G>A;refseq.codonCoord=177;refseq.end=48034216;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=601;refseq.name=NM_005985;refseq.name2=SNAI1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T177T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-80;refseq.start=48034216;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr20 48628535 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.664T>G;refseq.codonCoord=222;refseq.end=48628535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_002827;refseq.name2=PTPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S222A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-39;refseq.start=48628535;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr20 48629691 . C T 170.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.68;MQ=97.44;MQ0=0;OQ=943.56;QD=13.88;RankSumP=0.341663;SB=-416.77;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.909C>T;refseq.codonCoord=303;refseq.end=48629691;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_002827;refseq.name2=PTPN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P303P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=45;refseq.start=48629691;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr20 48646104 . C A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.104995;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1882G>T;refseq.codonCoord=628;refseq.end=48646104;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2200;refseq.name=NM_080829;refseq.name2=FAM65C;refseq.positionType=CDS;refseq.proteinCoordStr=p.V628F;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-21;refseq.start=48646104;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 1/0 chr20 48647563 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.26;MQ0=0;OQ=609.30;QD=17.41;RankSumP=0.725968;SB=-303.51;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1739T>C;refseq.codonCoord=580;refseq.end=48647563;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2057;refseq.name=NM_080829;refseq.name2=FAM65C;refseq.positionType=CDS;refseq.proteinCoordStr=p.L580P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-40;refseq.start=48647563;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr20 49010071 . T G 336.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=99.00;MQ0=0;OQ=2921.36;QD=18.03;RankSumP=0.180158;SB=-1129.59;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1285T>G;refseq.codonCoord=429;refseq.end=49010071;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1302;refseq.name=NM_014484;refseq.name2=MOCS3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S429A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-1157;refseq.start=49010071;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr20 49054190 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=98.97;MQ0=0;OQ=615.70;QD=9.19;RankSumP=0.126601;SB=-269.58;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1335C>A;refseq.codonCoord=445;refseq.end=49054190;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1630;refseq.name=NM_002237;refseq.name2=KCNG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I445I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=561;refseq.start=49054190;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr20 49054556 . T C 77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=97.87;MQ0=0;OQ=185.38;QD=9.27;RankSumP=0.523180;SB=-68.89;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.969A>G;refseq.codonCoord=323;refseq.end=49054556;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_002237;refseq.name2=KCNG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A323A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=195;refseq.start=49054556;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr20 49721143 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=192;Dels=0.00;HRun=4;HaplotypeScore=8.15;MQ=98.49;MQ0=0;OQ=7925.12;QD=41.28;RankSumP=1.00000;SB=-3688.81;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1098G>A;refseq.codonCoord=366;refseq.end=49721143;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_006045;refseq.name2=ATP9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.S366S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=61;refseq.start=49721143;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr20 49721197 . A G 340.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=98.44;MQ0=0;OQ=9779.09;QD=38.20;RankSumP=1.00000;SB=-4017.60;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1044T>C;refseq.codonCoord=348;refseq.end=49721197;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1044;refseq.name=NM_006045;refseq.name2=ATP9A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R348R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=49721197;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr20 49840392 . G A 300.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=98.50;MQ0=0;OQ=3206.93;QD=16.70;RankSumP=0.0330404;SB=-981.02;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2037C>T;refseq.codonCoord=679;refseq.end=49840392;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2138;refseq.name=NM_020436;refseq.name2=SALL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T679T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-425;refseq.start=49840392;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr20 49840569 . T C 342.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=242;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=97.61;MQ0=0;OQ=4452.38;QD=18.40;RankSumP=0.108588;SB=-1595.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1860A>G;refseq.codonCoord=620;refseq.end=49840569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1961;refseq.name=NM_020436;refseq.name2=SALL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T620T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-602;refseq.start=49840569;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr20 49840909 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.74;MQ0=0;OQ=912.77;QD=13.83;RankSumP=0.443017;SB=-376.74;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1520T>G;refseq.codonCoord=507;refseq.end=49840909;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_020436;refseq.name2=SALL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L507R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-942;refseq.start=49840909;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr20 49841373 . C T 222.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=9.55;MQ=98.79;MQ0=0;OQ=2397.74;QD=18.16;RankSumP=0.0615705;SB=-339.87;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1056G>A;refseq.codonCoord=352;refseq.end=49841373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1157;refseq.name=NM_020436;refseq.name2=SALL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A352A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=926;refseq.start=49841373;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr20 49841889 . A G 229.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1984.84;QD=37.45;RankSumP=1.00000;SB=-309.68;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.540T>C;refseq.codonCoord=180;refseq.end=49841889;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=641;refseq.name=NM_020436;refseq.name2=SALL4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N180N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=410;refseq.start=49841889;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr20 50210117 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.715G>C;refseq.codingCoordStr_2=c.553G>C;refseq.codingCoordStr_3=c.709G>C;refseq.codingCoordStr_4=c.715G>C;refseq.codonCoord_1=239;refseq.codonCoord_2=185;refseq.codonCoord_3=237;refseq.codonCoord_4=239;refseq.end_1=50210117;refseq.end_2=50210117;refseq.end_3=50210117;refseq.end_4=50210117;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1064;refseq.mrnaCoord_2=902;refseq.mrnaCoord_3=1058;refseq.mrnaCoord_4=1064;refseq.name2_1=ZFP64;refseq.name2_2=ZFP64;refseq.name2_3=ZFP64;refseq.name2_4=ZFP64;refseq.name_1=NM_018197;refseq.name_2=NM_022088;refseq.name_3=NM_199426;refseq.name_4=NM_199427;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A239P;refseq.proteinCoordStr_2=p.A185P;refseq.proteinCoordStr_3=p.A237P;refseq.proteinCoordStr_4=p.A239P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.spliceDist_4=-49;refseq.start_1=50210117;refseq.start_2=50210117;refseq.start_3=50210117;refseq.start_4=50210117;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr20 51304256 . T C 353.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=2031.21;QD=36.27;RankSumP=1.00000;SB=-982.95;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.852T>C;refseq.codonCoord=284;refseq.end=51304256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1808;refseq.name=NM_173485;refseq.name2=TSHZ2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F284F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=812;refseq.start=51304256;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr20 52108595 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=478;Dels=0.00;HRun=1;HaplotypeScore=43.03;MQ=97.82;MQ0=0;OQ=8492.49;QD=17.77;RankSumP=0.0217821;SB=-1926.67;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.70C>A;refseq.codonCoord=24;refseq.end=52108595;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_003657;refseq.name2=BCAS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q24K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=52108595;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr20 52207221 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=1607.23;QD=18.47;RankSumP=0.227977;SB=-299.17;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1449C>T;refseq.codingCoordStr_2=c.1251C>T;refseq.codonCoord_1=483;refseq.codonCoord_2=417;refseq.end_1=52207221;refseq.end_2=52207221;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1847;refseq.mrnaCoord_2=1649;refseq.name2_1=CYP24A1;refseq.name2_2=CYP24A1;refseq.name_1=NM_000782;refseq.name_2=NM_001128915;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y483Y;refseq.proteinCoordStr_2=p.Y417Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=52207221;refseq.start_2=52207221;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/0 chr20 52219626 . G A 399.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=317;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.93;MQ0=0;OQ=13788.48;QD=43.50;RankSumP=1.00000;SB=-3239.84;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.552C>T;refseq.codingCoordStr_2=c.552C>T;refseq.codonCoord_1=184;refseq.codonCoord_2=184;refseq.end_1=52219626;refseq.end_2=52219626;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=950;refseq.mrnaCoord_2=950;refseq.name2_1=CYP24A1;refseq.name2_2=CYP24A1;refseq.name_1=NM_000782;refseq.name_2=NM_001128915;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A184A;refseq.proteinCoordStr_2=p.A184A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=52219626;refseq.start_2=52219626;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr20 54394870 . T C 159.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=405;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=78.02;MQ0=15;OQ=13507.41;QD=33.35;RankSumP=1.00000;SB=-5930.61;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.chr_6=chr20;refseq.codingCoordStr_1=c.169A>G;refseq.codingCoordStr_2=c.169A>G;refseq.codingCoordStr_3=c.169A>G;refseq.codingCoordStr_4=c.169A>G;refseq.codingCoordStr_5=c.169A>G;refseq.codingCoordStr_6=c.169A>G;refseq.codonCoord_1=57;refseq.codonCoord_2=57;refseq.codonCoord_3=57;refseq.codonCoord_4=57;refseq.codonCoord_5=57;refseq.codonCoord_6=57;refseq.end_1=54394870;refseq.end_2=54394870;refseq.end_3=54394870;refseq.end_4=54394870;refseq.end_5=54394870;refseq.end_6=54394870;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=527;refseq.mrnaCoord_2=735;refseq.mrnaCoord_3=426;refseq.mrnaCoord_4=316;refseq.mrnaCoord_5=412;refseq.mrnaCoord_6=302;refseq.name2_1=AURKA;refseq.name2_2=AURKA;refseq.name2_3=AURKA;refseq.name2_4=AURKA;refseq.name2_5=AURKA;refseq.name2_6=AURKA;refseq.name_1=NM_003600;refseq.name_2=NM_198433;refseq.name_3=NM_198434;refseq.name_4=NM_198435;refseq.name_5=NM_198436;refseq.name_6=NM_198437;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.I57V;refseq.proteinCoordStr_2=p.I57V;refseq.proteinCoordStr_3=p.I57V;refseq.proteinCoordStr_4=p.I57V;refseq.proteinCoordStr_5=p.I57V;refseq.proteinCoordStr_6=p.I57V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.referenceCodon_4=ATT;refseq.referenceCodon_5=ATT;refseq.referenceCodon_6=ATT;refseq.spliceDist_1=127;refseq.spliceDist_2=127;refseq.spliceDist_3=127;refseq.spliceDist_4=127;refseq.spliceDist_5=127;refseq.spliceDist_6=127;refseq.start_1=54394870;refseq.start_2=54394870;refseq.start_3=54394870;refseq.start_4=54394870;refseq.start_5=54394870;refseq.start_6=54394870;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;refseq.variantCodon_4=GTT;refseq.variantCodon_5=GTT;refseq.variantCodon_6=GTT;set=Intersection GT 1/1 chr20 54460402 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=98.48;MQ0=0;OQ=2104.35;QD=15.03;RankSumP=0.375204;SB=-486.44;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_2=c.601G>A;refseq.codingCoordStr_3=c.763G>A;refseq.codingCoordStr_4=c.763G>A;refseq.codonCoord_2=201;refseq.codonCoord_3=255;refseq.codonCoord_4=255;refseq.end_1=54466792;refseq.end_2=54460402;refseq.end_3=54460402;refseq.end_4=54460402;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=802;refseq.mrnaCoord_3=988;refseq.mrnaCoord_4=964;refseq.name2_1=CASS4;refseq.name2_2=CASS4;refseq.name2_3=CASS4;refseq.name2_4=CASS4;refseq.name_1=NM_001164115;refseq.name_2=NM_001164114;refseq.name_3=NM_001164116;refseq.name_4=NM_020356;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.V201I;refseq.proteinCoordStr_3=p.V255I;refseq.proteinCoordStr_4=p.V255I;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_2=121;refseq.spliceDist_3=121;refseq.spliceDist_4=121;refseq.start_1=54459153;refseq.start_2=54460402;refseq.start_3=54460402;refseq.start_4=54460402;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/0 chr20 54521811 . A G 182.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=98.91;MQ0=0;OQ=1432.13;QD=14.61;RankSumP=0.281391;SB=-682.63;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.511A>G;refseq.codonCoord_2=171;refseq.end_1=54522248;refseq.end_2=54521811;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=618;refseq.name2_1=GCNT7;refseq.name2_2=C20orf43;refseq.name_1=NM_080615;refseq.name_2=NM_016407;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M171V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=34;refseq.start_1=54512768;refseq.start_2=54521811;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr20 54542024 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=576;Dels=0.00;HRun=1;HaplotypeScore=31.06;MQ=63.25;MQ0=234;OQ=7219.44;QD=12.53;RankSumP=0.482266;SB=-2561.26;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.220C>A;refseq.codonCoord=74;refseq.end=54542024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_001013646;refseq.name2=C20orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q74K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-30;refseq.start=54542024;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr20 54544778 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=2;HaplotypeScore=12.00;MQ=97.76;MQ0=0;OQ=6504.69;QD=19.36;RankSumP=0.353256;SB=-2718.45;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.393G>A;refseq.codonCoord=131;refseq.end=54544778;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_001013646;refseq.name2=C20orf107;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q131Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=144;refseq.start=54544778;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr20 54642664 . T C 150.69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=98.75;MQ0=0;OQ=2228.31;QD=15.47;RankSumP=0.183934;SB=-771.32;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.855T>C;refseq.codonCoord=285;refseq.end=54642664;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_003222;refseq.name2=TFAP2C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I285I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=52;refseq.start=54642664;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr20 55497361 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=12.17;MQ=48.80;MQ0=149;OQ=2123.03;QD=3.83;RankSumP=0.318904;SB=152.73;SecondBestBaseQ=33;set=Intersection GT 0/1 chr20 55532139 . T C 237.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=558;Dels=0.00;HRun=0;HaplotypeScore=18.03;MQ=98.78;MQ0=0;OQ=9898.67;QD=17.74;RankSumP=0.402978;SB=-2428.64;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.529A>G;refseq.codonCoord=177;refseq.end=55532139;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=611;refseq.name=NM_080618;refseq.name2=CTCFL;refseq.positionType=CDS;refseq.proteinCoordStr=p.T177A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-15;refseq.start=55532139;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 55532520 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=358;Dels=0.00;HRun=2;HaplotypeScore=7.49;MQ=98.74;MQ0=0;OQ=7764.50;QD=21.69;RankSumP=0.125802;SB=-3262.28;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.148G>C;refseq.codonCoord=50;refseq.end=55532520;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_080618;refseq.name2=CTCFL;refseq.positionType=CDS;refseq.proteinCoordStr=p.E50Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=159;refseq.start=55532520;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr20 55569942 . A G 137.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=98.65;MQ0=0;OQ=1452.51;QD=20.75;RankSumP=0.406930;SB=-609.71;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.69A>G;refseq.codonCoord=23;refseq.end=55569942;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L23L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=109;refseq.start=55569942;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr20 55570590 . C T 274.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=4.52;MQ=98.83;MQ0=0;OQ=4948.12;QD=20.11;RankSumP=0.234472;SB=-1806.25;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.282C>T;refseq.codonCoord=94;refseq.end=55570590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I94I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=58;refseq.start=55570590;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr20 55571204 . G A 312.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=98.87;MQ0=0;OQ=4950.60;QD=17.07;RankSumP=0.00223782;SB=-1939.89;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=55571204;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=47;refseq.start=55571204;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=filterInsoap-gatk GT 1/0 chr20 55571213 . A G 238.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=292;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=98.87;MQ0=0;OQ=4266.84;QD=14.61;RankSumP=0.164380;SB=-1626.36;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.462A>G;refseq.codonCoord=154;refseq.end=55571213;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=625;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S154S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=56;refseq.start=55571213;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr20 55571240 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=98.89;MQ0=0;OQ=3033.60;QD=11.28;RankSumP=0.00898509;SB=-1476.81;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.489A>G;refseq.codonCoord=163;refseq.end=55571240;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S163S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=83;refseq.start=55571240;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=filterInsoap-gatk GT 0/1 chr20 55571301 . G C 223.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=265;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=98.96;MQ0=0;OQ=12319.88;QD=46.49;RankSumP=1.00000;SB=-4551.13;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.550G>C;refseq.codonCoord=184;refseq.end=55571301;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=713;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V184L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-61;refseq.start=55571301;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr20 55572054 . G A 123.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=1;HaplotypeScore=10.38;MQ=98.47;MQ0=0;OQ=2905.14;QD=17.82;RankSumP=0.481611;SB=-985.93;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.826G>A;refseq.codonCoord=276;refseq.end=55572054;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=989;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E276K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=28;refseq.start=55572054;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chr20 55572809 . T C 386.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=98.71;MQ0=0;OQ=7333.00;QD=37.04;RankSumP=1.00000;SB=-3318.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1140T>C;refseq.codonCoord=380;refseq.end=55572809;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1303;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G380G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-47;refseq.start=55572809;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr20 55572979 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1222A>C;refseq.codonCoord=408;refseq.end=55572979;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1385;refseq.name=NM_002591;refseq.name2=PCK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T408P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=36;refseq.start=55572979;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr20 55613167 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.1155T>C;refseq.codingCoordStr_2=c.933T>C;refseq.codingCoordStr_3=c.1158T>C;refseq.codonCoord_1=385;refseq.codonCoord_2=311;refseq.codonCoord_3=386;refseq.end_1=55613167;refseq.end_2=55613167;refseq.end_3=55613167;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1436;refseq.mrnaCoord_2=1214;refseq.mrnaCoord_3=1439;refseq.name2_1=ZBP1;refseq.name2_2=ZBP1;refseq.name2_3=ZBP1;refseq.name_1=NM_001160417;refseq.name_2=NM_001160418;refseq.name_3=NM_030776;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T385T;refseq.proteinCoordStr_2=p.T311T;refseq.proteinCoordStr_3=p.T386T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.spliceDist_3=65;refseq.start_1=55613167;refseq.start_2=55613167;refseq.start_3=55613167;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=FilteredInAll GT 0/1 chr20 55618709 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=18.03;MQ=98.75;MQ0=0;OQ=3145.10;QD=16.21;RankSumP=0.106666;SB=-1056.80;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.992C>T;refseq.codingCoordStr_2=c.770C>T;refseq.codingCoordStr_3=c.995C>T;refseq.codonCoord_1=331;refseq.codonCoord_2=257;refseq.codonCoord_3=332;refseq.end_1=55618709;refseq.end_2=55618709;refseq.end_3=55618709;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1273;refseq.mrnaCoord_2=1051;refseq.mrnaCoord_3=1276;refseq.name2_1=ZBP1;refseq.name2_2=ZBP1;refseq.name2_3=ZBP1;refseq.name_1=NM_001160417;refseq.name_2=NM_001160418;refseq.name_3=NM_030776;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A331V;refseq.proteinCoordStr_2=p.A257V;refseq.proteinCoordStr_3=p.A332V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=-99;refseq.spliceDist_2=-99;refseq.spliceDist_3=-99;refseq.start_1=55618709;refseq.start_2=55618709;refseq.start_3=55618709;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr20 55620290 . T C 255.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1628.99;QD=37.88;RankSumP=1.00000;SB=-660.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.770A>G;refseq.codingCoordStr_2=c.548A>G;refseq.codingCoordStr_3=c.773A>G;refseq.codonCoord_1=257;refseq.codonCoord_2=183;refseq.codonCoord_3=258;refseq.end_1=55620290;refseq.end_2=55620290;refseq.end_3=55620290;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1051;refseq.mrnaCoord_2=829;refseq.mrnaCoord_3=1054;refseq.name2_1=ZBP1;refseq.name2_2=ZBP1;refseq.name2_3=ZBP1;refseq.name_1=NM_001160417;refseq.name_2=NM_001160418;refseq.name_3=NM_030776;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q257R;refseq.proteinCoordStr_2=p.Q183R;refseq.proteinCoordStr_3=p.Q258R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=-102;refseq.spliceDist_2=-102;refseq.spliceDist_3=-102;refseq.start_1=55620290;refseq.start_2=55620290;refseq.start_3=55620290;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr20 55624040 . C T 223.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=7.83;MQ=98.85;MQ0=0;OQ=8021.26;QD=40.92;RankSumP=1.00000;SB=-2267.38;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.262G>A;refseq.codingCoordStr_2=c.37G>A;refseq.codingCoordStr_3=c.262G>A;refseq.codingCoordStr_4=c.262G>A;refseq.codonCoord_1=88;refseq.codonCoord_2=13;refseq.codonCoord_3=88;refseq.codonCoord_4=88;refseq.end_1=55624040;refseq.end_2=55624040;refseq.end_3=55624040;refseq.end_4=55624040;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=543;refseq.mrnaCoord_2=318;refseq.mrnaCoord_3=543;refseq.mrnaCoord_4=543;refseq.name2_1=ZBP1;refseq.name2_2=ZBP1;refseq.name2_3=ZBP1;refseq.name2_4=ZBP1;refseq.name_1=NM_001160417;refseq.name_2=NM_001160418;refseq.name_3=NM_001160419;refseq.name_4=NM_030776;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E88K;refseq.proteinCoordStr_2=p.E13K;refseq.proteinCoordStr_3=p.E88K;refseq.proteinCoordStr_4=p.E88K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.start_1=55624040;refseq.start_2=55624040;refseq.start_3=55624040;refseq.start_4=55624040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr20 55660920 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=4.01;MQ=97.87;MQ0=0;OQ=805.95;QD=10.60;RankSumP=0.0532728;SB=-381.89;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.459A>G;refseq.codingCoordStr_2=c.354A>G;refseq.codingCoordStr_3=c.309A>G;refseq.codingCoordStr_4=c.309A>G;refseq.codonCoord_1=153;refseq.codonCoord_2=118;refseq.codonCoord_3=103;refseq.codonCoord_4=103;refseq.end_1=55660920;refseq.end_2=55660920;refseq.end_3=55660920;refseq.end_4=55660920;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=852;refseq.mrnaCoord_2=460;refseq.mrnaCoord_3=453;refseq.mrnaCoord_4=512;refseq.name2_1=PMEPA1;refseq.name2_2=PMEPA1;refseq.name2_3=PMEPA1;refseq.name2_4=PMEPA1;refseq.name_1=NM_020182;refseq.name_2=NM_199169;refseq.name_3=NM_199170;refseq.name_4=NM_199171;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S153S;refseq.proteinCoordStr_2=p.S118S;refseq.proteinCoordStr_3=p.S103S;refseq.proteinCoordStr_4=p.S103S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.spliceDist_1=141;refseq.spliceDist_2=141;refseq.spliceDist_3=141;refseq.spliceDist_4=141;refseq.start_1=55660920;refseq.start_2=55660920;refseq.start_3=55660920;refseq.start_4=55660920;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;set=Intersection GT 1/0 chr20 55660938 . T C 167.16 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=97.87;MQ0=0;OQ=2424.63;QD=31.90;RankSumP=1.00000;SB=-1068.05;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.441A>G;refseq.codingCoordStr_2=c.336A>G;refseq.codingCoordStr_3=c.291A>G;refseq.codingCoordStr_4=c.291A>G;refseq.codonCoord_1=147;refseq.codonCoord_2=112;refseq.codonCoord_3=97;refseq.codonCoord_4=97;refseq.end_1=55660938;refseq.end_2=55660938;refseq.end_3=55660938;refseq.end_4=55660938;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=834;refseq.mrnaCoord_2=442;refseq.mrnaCoord_3=435;refseq.mrnaCoord_4=494;refseq.name2_1=PMEPA1;refseq.name2_2=PMEPA1;refseq.name2_3=PMEPA1;refseq.name2_4=PMEPA1;refseq.name_1=NM_020182;refseq.name_2=NM_199169;refseq.name_3=NM_199170;refseq.name_4=NM_199171;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P147P;refseq.proteinCoordStr_2=p.P112P;refseq.proteinCoordStr_3=p.P97P;refseq.proteinCoordStr_4=p.P97P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=123;refseq.spliceDist_2=123;refseq.spliceDist_3=123;refseq.spliceDist_4=123;refseq.start_1=55660938;refseq.start_2=55660938;refseq.start_3=55660938;refseq.start_4=55660938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chr20 56162038 . G A 162.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.32;MQ0=0;OQ=1259.04;QD=17.49;RankSumP=0.353505;SB=-579.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.101G>A;refseq.codonCoord=34;refseq.end=56162038;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=139;refseq.name=NM_178456;refseq.name2=C20orf85;refseq.positionType=CDS;refseq.proteinCoordStr=p.R34Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=33;refseq.start=56162038;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr20 56677899 . G A 155.98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=5.78;MQ=98.31;MQ0=0;OQ=1877.91;QD=17.23;RankSumP=0.439481;SB=-616.40;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.540G>A;refseq.codingCoordStr_2=c.528G>A;refseq.codingCoordStr_3=c.489G>A;refseq.codingCoordStr_4=c.477G>A;refseq.codonCoord_1=180;refseq.codonCoord_2=176;refseq.codonCoord_3=163;refseq.codonCoord_4=159;refseq.end_1=56677899;refseq.end_2=56677899;refseq.end_3=56677899;refseq.end_4=56677899;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1275;refseq.mrnaCoord_2=1263;refseq.mrnaCoord_3=1224;refseq.mrnaCoord_4=1212;refseq.name2_1=STX16;refseq.name2_2=STX16;refseq.name2_3=STX16;refseq.name2_4=STX16;refseq.name_1=NM_001001433;refseq.name_2=NM_001134772;refseq.name_3=NM_001134773;refseq.name_4=NM_003763;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q180Q;refseq.proteinCoordStr_2=p.Q176Q;refseq.proteinCoordStr_3=p.Q163Q;refseq.proteinCoordStr_4=p.Q159Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.spliceDist_3=-17;refseq.spliceDist_4=-17;refseq.start_1=56677899;refseq.start_2=56677899;refseq.start_3=56677899;refseq.start_4=56677899;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 1/0 chr20 56998090 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=6.73;MQ=98.49;MQ0=0;OQ=1318.78;QD=13.88;RankSumP=0.251386;SB=-399.77;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.684C>T;refseq.codonCoord=228;refseq.end=56998090;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=711;refseq.name=NM_198976;refseq.name2=TH1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.A228A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-1;refseq.spliceInfo=splice-donor_-1;refseq.start=56998090;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr20 57005158 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=10.80;MQ=98.64;MQ0=0;OQ=1833.33;QD=19.10;RankSumP=0.362087;SB=-475.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.732T>C;refseq.codonCoord=244;refseq.end=57005158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=858;refseq.name=NM_001336;refseq.name2=CTSZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.S244S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-70;refseq.start=57005158;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr20 57006070 . A G 215.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=197;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.96;MQ0=0;OQ=6538.67;QD=33.19;RankSumP=1.00000;SB=-2702.33;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.621T>C;refseq.codonCoord=207;refseq.end=57006070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=747;refseq.name=NM_001336;refseq.name2=CTSZ;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y207Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-18;refseq.start=57006070;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/1 chr20 57032411 . T G 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=610;Dels=0.00;HRun=1;HaplotypeScore=22.45;MQ=98.72;MQ0=0;OQ=22199.68;QD=36.39;RankSumP=1.00000;SB=-10535.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.534T>G;refseq.codonCoord=178;refseq.end=57032411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_030773;refseq.name2=TUBB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T178T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=257;refseq.start=57032411;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr20 57032797 . G A 126.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=5.17;MQ=97.94;MQ0=0;OQ=1828.21;QD=12.11;RankSumP=0.262012;SB=-776.48;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.920G>A;refseq.codonCoord=307;refseq.end=57032797;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_030773;refseq.name2=TUBB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R307H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=643;refseq.start=57032797;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr20 57201334 . T G 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=92;Dels=0.00;HRun=2;HaplotypeScore=13.90;MQ=96.68;MQ0=0;OQ=58.66;QD=0.64;RankSumP=0.00000;SB=89.30;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1865T>G;refseq.codonCoord=622;refseq.end=57201334;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1865;refseq.name=NM_178457;refseq.name2=ZNF831;refseq.positionType=CDS;refseq.proteinCoordStr=p.V622G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1865;refseq.start=57201334;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr20 57262696 . T C 145.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=128;Dels=0.00;HRun=1;HaplotypeScore=1.89;MQ=98.75;MQ0=0;OQ=2372.40;QD=18.53;RankSumP=0.0900615;SB=-624.99;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4537T>C;refseq.codonCoord=1513;refseq.end=57262696;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4537;refseq.name=NM_178457;refseq.name2=ZNF831;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1513P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=349;refseq.start=57262696;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr20 57763777 . C A 18.17 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=104;Dels=0.00;HRun=2;HaplotypeScore=16.36;MQ=97.66;MQ0=0;QD=0.17;RankSumP=0.00000;SB=117.55;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.504C>A;refseq.codingCoordStr_2=c.381C>A;refseq.codingCoordStr_3=c.381C>A;refseq.codonCoord_1=168;refseq.codonCoord_2=127;refseq.codonCoord_3=127;refseq.end_1=57763777;refseq.end_2=57763777;refseq.end_3=57763777;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=971;refseq.mrnaCoord_2=615;refseq.mrnaCoord_3=615;refseq.name2_1=PHACTR3;refseq.name2_2=PHACTR3;refseq.name2_3=PHACTR3;refseq.name_1=NM_080672;refseq.name_2=NM_183244;refseq.name_3=NM_183246;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D168E;refseq.proteinCoordStr_2=p.D127E;refseq.proteinCoordStr_3=p.D127E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.start_1=57763777;refseq.start_2=57763777;refseq.start_3=57763777;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 1/0 chr20 58316929 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=12.61;MQ=98.21;MQ0=0;OQ=3967.63;QD=15.50;RankSumP=0.214162;SB=-824.55;SecondBestBaseQ=29;refseq.chr=chr20;refseq.end=58316929;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=3;refseq.name=NR_030376;refseq.name2=MIR646;refseq.positionType=non_coding_exon;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=58316929;refseq.transcriptStrand=+;set=Intersection GT 1/0 chr20 59919022 . C T 296.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.68;MQ0=0;OQ=13357.19;QD=41.35;RankSumP=1.00000;SB=-6248.66;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1338C>T;refseq.codonCoord=446;refseq.end=59919022;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1349;refseq.name=NM_001794;refseq.name2=CDH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D446D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-37;refseq.start=59919022;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr20 59936745 . A G 175.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=97.73;MQ0=0;OQ=2679.55;QD=34.35;RankSumP=1.00000;SB=-501.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1874A>G;refseq.codonCoord=625;refseq.end=59936745;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1885;refseq.name=NM_001794;refseq.name2=CDH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K625R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=103;refseq.start=59936745;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr20 59942604 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=8.73;MQ=98.44;MQ0=0;OQ=1092.00;QD=9.50;RankSumP=0.0224238;SB=-430.90;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2475C>T;refseq.codonCoord=825;refseq.end=59942604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2486;refseq.name=NM_001794;refseq.name2=CDH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G825G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-70;refseq.start=59942604;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr20 59945255 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=8.06;MQ=98.10;MQ0=0;OQ=3669.72;QD=26.59;RankSumP=0.334580;SB=-1541.84;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2610C>T;refseq.codonCoord=870;refseq.end=59945255;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2621;refseq.name=NM_001794;refseq.name2=CDH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y870Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=66;refseq.start=59945255;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr20 60006058 . C A 250 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=11.16;MQ=98.47;MQ0=0;OQ=11564.52;QD=36.03;RankSumP=1.00000;SB=-4887.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3033G>T;refseq.codonCoord=1011;refseq.end=60006058;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3033;refseq.name=NM_003185;refseq.name2=TAF4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1011A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-58;refseq.start=60006058;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr20 60146706 . G A 140.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=98.47;MQ0=0;OQ=14518.12;QD=39.78;RankSumP=1.00000;SB=-5505.77;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.507C>T;refseq.codonCoord=169;refseq.end=60146706;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=622;refseq.name=NM_002792;refseq.name2=PSMA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R169R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=36;refseq.start=60146706;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr20 60146727 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=394;Dels=0.00;HRun=1;HaplotypeScore=14.58;MQ=98.45;MQ0=0;OQ=15547.58;QD=39.46;RankSumP=1.00000;SB=-7473.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.486T>C;refseq.codonCoord=162;refseq.end=60146727;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=601;refseq.name=NM_002792;refseq.name2=PSMA7;refseq.positionType=CDS;refseq.proteinCoordStr=p.G162G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=15;refseq.start=60146727;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr20 60201968 . C T 190.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=8.53;MQ=98.71;MQ0=0;OQ=5481.70;QD=19.44;RankSumP=0.0253682;SB=-817.29;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.97C>T;refseq.codonCoord=33;refseq.end=60201968;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_015666;refseq.name2=GTPBP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R33W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=102;refseq.start=60201968;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr20 60202010 . G A 204.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=5.50;MQ=98.51;MQ0=0;OQ=2142.88;QD=15.20;RankSumP=0.429699;SB=-349.50;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.139G>A;refseq.codonCoord=47;refseq.end=60202010;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=177;refseq.name=NM_015666;refseq.name2=GTPBP5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G47S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-66;refseq.start=60202010;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 60224799 . C T 316.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.62;MQ0=0;OQ=1334.26;QD=36.06;RankSumP=1.00000;SB=-209.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.996G>A;refseq.codonCoord=332;refseq.end=60224799;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_007232;refseq.name2=HRH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S332S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=579;refseq.start=60224799;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr20 60224817 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.25;MQ0=0;OQ=321.64;QD=13.98;RankSumP=0.330360;SB=-3.98;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.978G>A;refseq.codonCoord=326;refseq.end=60224817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1275;refseq.name=NM_007232;refseq.name2=HRH3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P326P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=561;refseq.start=60224817;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr20 60300184 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=2.83359e-07;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1244A>G;refseq.codingCoordStr_2=c.1280A>G;refseq.codonCoord_1=415;refseq.codonCoord_2=427;refseq.end_1=60300184;refseq.end_2=60300184;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1446;refseq.mrnaCoord_2=1482;refseq.name2_1=OSBPL2;refseq.name2_2=OSBPL2;refseq.name_1=NM_014835;refseq.name_2=NM_144498;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E415G;refseq.proteinCoordStr_2=p.E427G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=31;refseq.spliceDist_2=31;refseq.start_1=60300184;refseq.start_2=60300184;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr20 60314725 . G A 198.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.69;MQ0=0;OQ=588.23;QD=36.76;RankSumP=1.00000;SB=-95.34;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.408G>A;refseq.codingCoordStr_2=c.408G>A;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.end_1=60314725;refseq.end_2=60314725;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=484;refseq.name2_1=ADRM1;refseq.name2_2=ADRM1;refseq.name_1=NM_007002;refseq.name_2=NM_175573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A136A;refseq.proteinCoordStr_2=p.A136A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=60314725;refseq.start_2=60314725;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr20 60315175 . T C 243 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.92;MQ0=0;OQ=1701.25;QD=32.72;RankSumP=1.00000;SB=-744.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.531T>C;refseq.codingCoordStr_2=c.531T>C;refseq.codonCoord_1=177;refseq.codonCoord_2=177;refseq.end_1=60315175;refseq.end_2=60315175;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=607;refseq.name2_1=ADRM1;refseq.name2_2=ADRM1;refseq.name_1=NM_007002;refseq.name_2=NM_175573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L177L;refseq.proteinCoordStr_2=p.L177L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-11;refseq.spliceDist_2=-11;refseq.start_1=60315175;refseq.start_2=60315175;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/1 chr20 60316105 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.682A>C;refseq.codingCoordStr_2=c.682A>C;refseq.codonCoord_1=228;refseq.codonCoord_2=228;refseq.end_1=60316105;refseq.end_2=60316105;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=758;refseq.name2_1=ADRM1;refseq.name2_2=ADRM1;refseq.name_1=NM_007002;refseq.name_2=NM_175573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T228P;refseq.proteinCoordStr_2=p.T228P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=60316105;refseq.start_2=60316105;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr20 60320976 . G A 414.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.92;MQ0=0;OQ=2747.08;QD=37.12;RankSumP=1.00000;SB=-1268.40;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.9235C>T;refseq.codonCoord=3079;refseq.end=60320976;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9302;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3079W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=60320976;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr20 60325921 . A G 291.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=98.35;MQ0=0;OQ=3302.18;QD=35.13;RankSumP=1.00000;SB=-1503.91;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.7386T>C;refseq.codonCoord=2462;refseq.end=60325921;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7453;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2462D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=30;refseq.start=60325921;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr20 60326939 . T G 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.500000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.7205A>C;refseq.codonCoord=2402;refseq.end=60326939;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7272;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2402T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-35;refseq.start=60326939;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr20 60327034 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=98.23;MQ0=0;OQ=273.53;QD=15.20;RankSumP=0.742943;SB=-149.57;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.7110C>G;refseq.codonCoord=2370;refseq.end=60327034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7177;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2370T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=68;refseq.start=60327034;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr20 60330882 . C T 37.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=97.93;MQ0=0;OQ=527.17;QD=31.01;RankSumP=1.00000;SB=-266.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.6184G>A;refseq.codonCoord=2062;refseq.end=60330882;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6251;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2062N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=19;refseq.start=60330882;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr20 60331116 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=88.50;MQ0=0;OQ=57.77;QD=9.63;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.6158G>A;refseq.codonCoord=2053;refseq.end=60331116;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6225;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2053H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=60331116;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr20 60332601 . C T 284.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.16;MQ0=0;OQ=928.11;QD=35.70;RankSumP=1.00000;SB=-238.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.5698G>A;refseq.codonCoord=1900;refseq.end=60332601;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5765;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1900M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=55;refseq.start=60332601;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr20 60333876 . A G 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=6.89;MQ=98.60;MQ0=0;OQ=2975.01;QD=35.00;RankSumP=1.00000;SB=-569.21;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.5420T>C;refseq.codonCoord=1807;refseq.end=60333876;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5487;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1807S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-110;refseq.start=60333876;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr20 60333974 . C A 413.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.84;MQ0=0;OQ=5344.69;QD=36.61;RankSumP=1.00000;SB=-1470.40;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.5322G>T;refseq.codonCoord=1774;refseq.end=60333974;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5389;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1774T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=24;refseq.start=60333974;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/1 chr20 60338248 . T C 354.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=95.66;MQ0=0;OQ=2256.34;QD=36.39;RankSumP=1.00000;SB=-947.97;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4099A>G;refseq.codonCoord=1367;refseq.end=60338248;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4166;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1367E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-21;refseq.start=60338248;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr20 60339273 . A G 150.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=193.21;QD=32.20;RankSumP=1.00000;SB=-120.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.3773T>C;refseq.codonCoord=1258;refseq.end=60339273;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3840;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.M1258T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-80;refseq.start=60339273;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=filterInsoap-gatk GT 1/1 chr20 60340841 . T C 411.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=98.73;MQ0=0;OQ=3055.47;QD=37.72;RankSumP=1.00000;SB=-935.11;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3534A>G;refseq.codonCoord=1178;refseq.end=60340841;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3601;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1178E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-19;refseq.start=60340841;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr20 60341070 . G A 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=96.98;MQ0=0;OQ=1587.14;QD=29.95;RankSumP=1.00000;SB=-367.96;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.3381C>T;refseq.codonCoord=1127;refseq.end=60341070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3448;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1127A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-63;refseq.start=60341070;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr20 60342359 . G A 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=92.55;MQ0=0;OQ=1080.49;QD=27.70;RankSumP=1.00000;SB=-236.32;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2871C>T;refseq.codonCoord=957;refseq.end=60342359;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2938;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C957C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=60342359;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chr20 60342364 . T C 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=93.17;MQ0=0;OQ=1141.46;QD=26.55;RankSumP=1.00000;SB=-281.61;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2866A>G;refseq.codonCoord=956;refseq.end=60342364;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2933;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T956A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=60342364;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr20 60342455 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=159;Dels=0.00;HRun=4;HaplotypeScore=9.15;MQ=96.96;MQ0=0;OQ=4408.42;QD=27.73;RankSumP=1.00000;SB=-1927.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2775T>C;refseq.codonCoord=925;refseq.end=60342455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2842;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P925P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=36;refseq.start=60342455;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr20 60345225 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.2177A>C;refseq.codonCoord=726;refseq.end=60345225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2244;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H726P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=13;refseq.start=60345225;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 60346078 . T C 86.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.37;MQ0=0;OQ=451.39;QD=30.09;RankSumP=1.00000;SB=-181.78;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.2127A>G;refseq.codonCoord=709;refseq.end=60346078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2194;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T709T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-38;refseq.start=60346078;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr20 60354282 . G A 224.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=274.56;QD=39.22;RankSumP=1.00000;SB=-142.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1464C>T;refseq.codonCoord=488;refseq.end=60354282;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1531;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A488A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-14;refseq.start=60354282;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=filterInsoap-gatk GT 1/1 chr20 60355038 . T C 318.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=99.00;MQ0=0;OQ=722.12;QD=38.01;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1201A>G;refseq.codonCoord=401;refseq.end=60355038;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1268;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T401A;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=60355038;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr20 60360744 . C T 304.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=7.26;MQ=98.37;MQ0=0;OQ=8992.61;QD=37.78;RankSumP=1.00000;SB=-4093.36;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.636G>A;refseq.codonCoord=212;refseq.end=60360744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=703;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A212A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-52;refseq.start=60360744;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr20 60360807 . G A 348.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.24;MQ0=0;OQ=4381.74;QD=39.48;RankSumP=1.00000;SB=-292.28;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.573C>T;refseq.codonCoord=191;refseq.end=60360807;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S191S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=60360807;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr20 60370992 . A G 267.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.89;MQ0=0;OQ=1718.92;QD=33.70;RankSumP=1.00000;SB=-571.31;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.309T>C;refseq.codonCoord=103;refseq.end=60370992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_005560;refseq.name2=LAMA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.C103C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=12;refseq.start=60370992;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr20 60396315 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.136T>G;refseq.codonCoord=46;refseq.end=60396315;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_001024;refseq.name2=RPS21;refseq.positionType=CDS;refseq.proteinCoordStr=p.F46V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=22;refseq.start=60396315;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=FilteredInAll GT 1/0 chr20 60399713 . G T 254.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=1061.57;QD=37.91;RankSumP=1.00000;SB=-432.26;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1283C>A;refseq.codonCoord=428;refseq.end=60399713;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1290;refseq.name=NM_031215;refseq.name2=CABLES2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T428K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-14;refseq.start=60399713;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr20 60415419 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=75.13;QD=18.78;RankSumP=0.750000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.309G>A;refseq.codonCoord=103;refseq.end=60415419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_031215;refseq.name2=CABLES2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L103L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-54;refseq.start=60415419;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 0/1 chr20 60473353 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=98.35;MQ0=0;OQ=497.89;QD=13.10;RankSumP=0.389877;SB=-267.45;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1128A>G;refseq.codonCoord=376;refseq.end=60473353;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1190;refseq.name=NM_080473;refseq.name2=GATA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P376P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=90;refseq.start=60473353;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr20 60473848 . C G 242.44 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=94.85;MQ0=0;OQ=1700.63;QD=38.65;RankSumP=1.00000;SB=-196.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.981G>C;refseq.codonCoord=327;refseq.end=60473848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_080473;refseq.name2=GATA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S327S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-58;refseq.start=60473848;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr20 60473859 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=1.20218e-05;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.970G>C;refseq.codonCoord=324;refseq.end=60473859;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_080473;refseq.name2=GATA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A324P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=57;refseq.start=60473859;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr20 60474346 . C T 46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=99.00;MQ0=0;OQ=960.06;QD=36.93;RankSumP=1.00000;SB=-171.21;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.852G>A;refseq.codonCoord=284;refseq.end=60474346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=914;refseq.name=NM_080473;refseq.name2=GATA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.K284K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=27;refseq.start=60474346;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr20 60481944 . G A 193.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.04;MQ=98.51;MQ0=0;OQ=1762.57;QD=34.56;RankSumP=1.00000;SB=-725.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.609C>T;refseq.codonCoord=203;refseq.end=60481944;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=671;refseq.name=NM_080473;refseq.name2=GATA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D203D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=86;refseq.start=60481944;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr20 60762963 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1112A>C;refseq.codonCoord=371;refseq.end=60762963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_016354;refseq.name2=SLCO4A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D371A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=60762963;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr20 60914081 . G A 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.63;MQ0=0;OQ=202.95;QD=28.99;RankSumP=1.00000;SB=-125.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.669G>A;refseq.codonCoord=223;refseq.end=60914081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=704;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.L223L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=55;refseq.start=60914081;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=filterInsoap-gatk GT 1/1 chr20 60914105 . G A 137.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=93.43;MQ0=0;OQ=137.23;QD=34.31;RankSumP=0.750000;SB=-51.56;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.693G>A;refseq.codonCoord=231;refseq.end=60914105;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=728;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P231P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=79;refseq.start=60914105;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr20 60914315 . C G 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=185.74;QD=10.93;RankSumP=0.0124949;SB=-87.80;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.903C>G;refseq.codonCoord=301;refseq.end=60914315;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=938;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P301P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=289;refseq.start=60914315;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr20 60915078 . G A 10.26 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=30.13;MQ0=6;QD=0.93;SB=-10.00;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1666G>A;refseq.codonCoord=556;refseq.end=60915078;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1701;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E556K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-720;refseq.start=60915078;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,1:1:-4.27,-0.30,-0.00:1.76 chr20 60915138 rs35813009 G A 0.08 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=45.59;MQ0=21;OQ=128.32;QD=4.42;SB=-10.00;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1726G>A;refseq.codonCoord=576;refseq.end=60915138;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1761;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.E576K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-660;refseq.start=60915138;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=gatk GT:AD:DP:GL:GQ 1/1:19,10:4:-16.37,-1.21,-0.00:12.04 chr20 60915142 . G C 0.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=4.27;MQ=50.21;MQ0=21;OQ=222.51;QD=7.18;RankSumP=0.750000;SB=-54.92;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1730G>C;refseq.codonCoord=577;refseq.end=60915142;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1765;refseq.name=NM_007346;refseq.name2=OGFR;refseq.positionType=CDS;refseq.proteinCoordStr=p.S577T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-656;refseq.start=60915142;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chr20 60939016 . T C 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=799.51;QD=34.76;RankSumP=1.00000;SB=-239.10;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1740T>C;refseq.codonCoord=580;refseq.end=60939016;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1743;refseq.name=NM_001853;refseq.name2=COL9A3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P580P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-47;refseq.start=60939016;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chr20 60959230 . T C 111.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=19.26;MQ=98.92;MQ0=0;OQ=10667.39;QD=17.69;RankSumP=0.0190753;SB=-4246.52;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1200A>G;refseq.codonCoord=400;refseq.end=60959230;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1293;refseq.name=NM_006602;refseq.name2=TCFL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q400Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-39;refseq.start=60959230;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr20 60983051 . T C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=96.90;MQ0=0;OQ=634.60;QD=24.41;RankSumP=1.00000;SB=-119.88;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.4702A>G;refseq.codonCoord=1568;refseq.end=60983051;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5028;refseq.name=NM_033081;refseq.name2=DIDO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1568A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1161;refseq.start=60983051;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chr20 60983370 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.4383C>G;refseq.codonCoord=1461;refseq.end=60983370;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4709;refseq.name=NM_033081;refseq.name2=DIDO1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1461A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=842;refseq.start=60983370;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chr20 60998519 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=9.41;MQ=97.48;MQ0=0;OQ=720.13;QD=8.00;RankSumP=0.285054;SB=-386.04;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1863A>G;refseq.codingCoordStr_2=c.1863A>G;refseq.codonCoord_1=621;refseq.codonCoord_2=621;refseq.end_1=60998519;refseq.end_2=60998519;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2189;refseq.mrnaCoord_2=2189;refseq.name2_1=DIDO1;refseq.name2_2=DIDO1;refseq.name_1=NM_033081;refseq.name_2=NM_080797;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A621A;refseq.proteinCoordStr_2=p.A621A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-192;refseq.spliceDist_2=-192;refseq.start_1=60998519;refseq.start_2=60998519;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr20 60998642 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.470205;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1740A>C;refseq.codingCoordStr_2=c.1740A>C;refseq.codonCoord_1=580;refseq.codonCoord_2=580;refseq.end_1=60998642;refseq.end_2=60998642;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2066;refseq.mrnaCoord_2=2066;refseq.name2_1=DIDO1;refseq.name2_2=DIDO1;refseq.name_1=NM_033081;refseq.name_2=NM_080797;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T580T;refseq.proteinCoordStr_2=p.T580T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=152;refseq.spliceDist_2=152;refseq.start_1=60998642;refseq.start_2=60998642;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 1/0 chr20 60998644 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00776525;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1738A>C;refseq.codingCoordStr_2=c.1738A>C;refseq.codonCoord_1=580;refseq.codonCoord_2=580;refseq.end_1=60998644;refseq.end_2=60998644;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2064;refseq.mrnaCoord_2=2064;refseq.name2_1=DIDO1;refseq.name2_2=DIDO1;refseq.name_1=NM_033081;refseq.name_2=NM_080797;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T580P;refseq.proteinCoordStr_2=p.T580P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=150;refseq.spliceDist_2=150;refseq.start_1=60998644;refseq.start_2=60998644;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr20 60998751 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=19;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=17.03;MQ=97.15;MQ0=0;OQ=605.09;QD=6.24;RankSumP=0.172426;SB=-90.66;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1631T>C;refseq.codingCoordStr_2=c.1631T>C;refseq.codonCoord_1=544;refseq.codonCoord_2=544;refseq.end_1=60998751;refseq.end_2=60998751;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1957;refseq.mrnaCoord_2=1957;refseq.name2_1=DIDO1;refseq.name2_2=DIDO1;refseq.name_1=NM_033081;refseq.name_2=NM_080797;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M544T;refseq.proteinCoordStr_2=p.M544T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=60998751;refseq.start_2=60998751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr20 61058604 . A G 142.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=98.28;MQ0=0;OQ=990.12;QD=13.95;RankSumP=0.184872;SB=-220.64;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.102A>G;refseq.codonCoord=34;refseq.end=61058604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=286;refseq.name=NM_022082;refseq.name2=SLC17A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.T34T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=43;refseq.start=61058604;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr20 61065124 . A G 325.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=5.34;MQ=98.38;MQ0=0;OQ=5812.43;QD=38.75;RankSumP=1.00000;SB=-2101.15;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.683A>G;refseq.codonCoord=228;refseq.end=61065124;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=867;refseq.name=NM_022082;refseq.name2=SLC17A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N228S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-43;refseq.start=61065124;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chr20 61066081 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=98.58;MQ0=0;OQ=2680.51;QD=11.36;RankSumP=0.234715;SB=-1109.37;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.879C>T;refseq.codonCoord=293;refseq.end=61066081;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1063;refseq.name=NM_022082;refseq.name2=SLC17A9;refseq.positionType=CDS;refseq.proteinCoordStr=p.S293S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-32;refseq.start=61066081;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr20 61305140 . G A 286.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.52;MQ0=0;OQ=2180.04;QD=15.91;RankSumP=0.337011;SB=-1029.70;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.597C>T;refseq.codonCoord=199;refseq.end=61305140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=891;refseq.name=NM_017798;refseq.name2=YTHDF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A199A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=465;refseq.start=61305140;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr20 61341172 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=97.00;MQ0=0;OQ=340.48;QD=17.92;RankSumP=0.248349;SB=-78.77;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_2=c.667G>C;refseq.codonCoord_2=223;refseq.end_1=61341198;refseq.end_2=61341172;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=840;refseq.name2_1=BIRC7;refseq.name2_2=BIRC7;refseq.name_1=NM_022161;refseq.name_2=NM_139317;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E223Q;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAG;refseq.spliceDist_2=18;refseq.start_1=61341041;refseq.start_2=61341172;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr20 61349454 . G T 37.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=4.72;RankSumP=0.507937;SB=-27.90;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.392C>A;refseq.codonCoord=131;refseq.end=61349454;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=482;refseq.name=NM_152864;refseq.name2=NKAIN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A131D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-80;refseq.start=61349454;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 0/1 chr20 61351741 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.07;MQ0=0;OQ=782.18;QD=11.50;RankSumP=0.425550;SB=-357.92;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.183T>C;refseq.codonCoord=61;refseq.end=61351741;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=273;refseq.name=NM_152864;refseq.name2=NKAIN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y61Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=61351741;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr20 61351847 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=2.16502e-05;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.77T>G;refseq.codonCoord=26;refseq.end=61351847;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=167;refseq.name=NM_152864;refseq.name2=NKAIN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V26G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=61351847;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr20 61451548 . C T 101.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.43;MQ0=0;OQ=1108.51;QD=15.84;RankSumP=0.0115947;SB=-118.12;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1659G>A;refseq.codonCoord=553;refseq.end=61451548;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1837;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A553A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-100;refseq.start=61451548;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr20 61451578 . G A 160.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.72;MQ0=0;OQ=744.24;QD=15.83;RankSumP=0.251426;SB=-258.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1629C>T;refseq.codonCoord=543;refseq.end=61451578;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1807;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S543S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-130;refseq.start=61451578;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr20 61451980 . A G 28.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=271.75;QD=30.19;RankSumP=1.00000;SB=-161.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1227T>C;refseq.codonCoord=409;refseq.end=61451980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C409C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-532;refseq.start=61451980;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=filterInsoap-gatk GT 1/1 chr20 61451998 . C A 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=95.94;MQ0=0;OQ=268.52;QD=26.85;RankSumP=1.00000;SB=-153.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1209G>T;refseq.codonCoord=403;refseq.end=61451998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1387;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P403P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-550;refseq.start=61451998;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/1 chr20 61452529 . A G 50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=18.12;MQ=95.11;MQ0=3;OQ=7939.65;QD=30.42;RankSumP=1.00000;SB=-3522.06;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.678T>C;refseq.codonCoord=226;refseq.end=61452529;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=856;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.C226C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=295;refseq.start=61452529;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr20 61452568 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=22.54;MQ=97.82;MQ0=0;OQ=9418.07;QD=30.98;RankSumP=1.00000;SB=-3345.06;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.639T>C;refseq.codonCoord=213;refseq.end=61452568;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_000744;refseq.name2=CHRNA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D213D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=256;refseq.start=61452568;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr20 61508721 . T G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=6.60;MQ=97.77;MQ0=0;OQ=1477.03;QD=26.86;RankSumP=1.00000;SB=-499.07;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.codingCoordStr_1=c.2255A>C;refseq.codingCoordStr_2=c.2285A>C;refseq.codingCoordStr_3=c.2339A>C;refseq.codingCoordStr_4=c.2246A>C;refseq.codonCoord_1=752;refseq.codonCoord_2=762;refseq.codonCoord_3=780;refseq.codonCoord_4=749;refseq.end_1=61508721;refseq.end_2=61508721;refseq.end_3=61508721;refseq.end_4=61508721;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2432;refseq.mrnaCoord_2=2462;refseq.mrnaCoord_3=2516;refseq.mrnaCoord_4=2423;refseq.name2_1=KCNQ2;refseq.name2_2=KCNQ2;refseq.name2_3=KCNQ2;refseq.name2_4=KCNQ2;refseq.name_1=NM_004518;refseq.name_2=NM_172106;refseq.name_3=NM_172107;refseq.name_4=NM_172108;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.N752T;refseq.proteinCoordStr_2=p.N762T;refseq.proteinCoordStr_3=p.N780T;refseq.proteinCoordStr_4=p.N749T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.spliceDist_1=452;refseq.spliceDist_2=452;refseq.spliceDist_3=452;refseq.spliceDist_4=452;refseq.start_1=61508721;refseq.start_2=61508721;refseq.start_3=61508721;refseq.start_4=61508721;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr20 61535590 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_5=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.chr_4=chr20;refseq.chr_5=chr20;refseq.codingCoordStr_5=c.1134A>C;refseq.codonCoord_5=378;refseq.end_1=61535595;refseq.end_2=61535595;refseq.end_3=61535595;refseq.end_4=61535595;refseq.end_5=61535590;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=1311;refseq.name2_1=KCNQ2;refseq.name2_2=KCNQ2;refseq.name2_3=KCNQ2;refseq.name2_4=KCNQ2;refseq.name2_5=KCNQ2;refseq.name_1=NM_004518;refseq.name_2=NM_172106;refseq.name_3=NM_172107;refseq.name_4=NM_172108;refseq.name_5=NM_172109;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.A378A;refseq.referenceAA_5=Ala;refseq.referenceCodon_5=GCA;refseq.spliceDist_5=111;refseq.start_1=61530243;refseq.start_2=61533177;refseq.start_3=61533177;refseq.start_4=61533177;refseq.start_5=61535590;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_5=Ala;refseq.variantCodon_5=GCC;set=FilteredInAll GT 1/0 chr20 61596629 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=97.33;MQ0=0;OQ=486.26;QD=9.17;RankSumP=0.723595;SB=-103.98;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.594T>C;refseq.codonCoord=198;refseq.end=61596629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=760;refseq.name=NM_001958;refseq.name2=EEF1A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G198G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-28;refseq.start=61596629;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr20 61642663 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=2.86;MQ=98.29;MQ0=0;OQ=968.39;QD=11.67;RankSumP=0.319264;SB=-242.49;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1419C>T;refseq.codonCoord=473;refseq.end=61642663;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1460;refseq.name=NM_080823;refseq.name2=SRMS;refseq.positionType=CDS;refseq.proteinCoordStr=p.F473F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-57;refseq.start=61642663;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr20 61644006 . G T 128.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.01;MQ0=0;OQ=1782.71;QD=14.98;RankSumP=0.398892;SB=-713.79;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.900C>A;refseq.codonCoord=300;refseq.end=61644006;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_080823;refseq.name2=SRMS;refseq.positionType=CDS;refseq.proteinCoordStr=p.I300I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-47;refseq.start=61644006;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr20 61645168 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=98.93;MQ0=0;OQ=841.03;QD=19.11;RankSumP=0.394237;SB=-372.41;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.588C>T;refseq.codonCoord=196;refseq.end=61645168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_080823;refseq.name2=SRMS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y196Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-58;refseq.start=61645168;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr20 61657631 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=98.40;MQ0=0;OQ=779.55;QD=13.68;RankSumP=0.589876;SB=-283.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.171T>C;refseq.codonCoord=57;refseq.end=61657631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=263;refseq.name=NM_024059;refseq.name2=C20orf195;refseq.positionType=CDS;refseq.proteinCoordStr=p.S57S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=181;refseq.start=61657631;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr20 61657883 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.55;MQ0=0;OQ=882.12;QD=13.57;RankSumP=0.751363;SB=-253.27;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.423T>C;refseq.codonCoord=141;refseq.end=61657883;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=515;refseq.name=NM_024059;refseq.name2=C20orf195;refseq.positionType=CDS;refseq.proteinCoordStr=p.D141D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=433;refseq.start=61657883;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chr20 61661765 . A G 374.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.68;MQ0=0;OQ=1646.96;QD=35.80;RankSumP=1.00000;SB=-776.11;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.7785T>C;refseq.codingCoordStr_2=c.6078T>C;refseq.codonCoord_1=2595;refseq.codonCoord_2=2026;refseq.end_1=61661765;refseq.end_2=61661765;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8677;refseq.mrnaCoord_2=6182;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N2595N;refseq.proteinCoordStr_2=p.N2026N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=61661765;refseq.start_2=61661765;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr20 61662002 . G A 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.39;MQ0=0;OQ=593.89;QD=29.69;RankSumP=1.00000;SB=-299.30;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.7623C>T;refseq.codingCoordStr_2=c.5916C>T;refseq.codonCoord_1=2541;refseq.codonCoord_2=1972;refseq.end_1=61662002;refseq.end_2=61662002;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=8515;refseq.mrnaCoord_2=6020;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A2541A;refseq.proteinCoordStr_2=p.A1972A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=61662002;refseq.start_2=61662002;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 1/1 chr20 61663463 . C T 160.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.80;MQ0=0;OQ=806.47;QD=33.60;RankSumP=1.00000;SB=-234.31;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.6771G>A;refseq.codingCoordStr_2=c.5064G>A;refseq.codonCoord_1=2257;refseq.codonCoord_2=1688;refseq.end_1=61663463;refseq.end_2=61663463;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7663;refseq.mrnaCoord_2=5168;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2257P;refseq.proteinCoordStr_2=p.P1688P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-66;refseq.spliceDist_2=-66;refseq.start_1=61663463;refseq.start_2=61663463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr20 61663889 . G A 97.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=10.15;MQ=93.42;MQ0=0;OQ=2213.51;QD=30.74;RankSumP=1.00000;SB=-713.33;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.6509C>T;refseq.codingCoordStr_2=c.4802C>T;refseq.codonCoord_1=2170;refseq.codonCoord_2=1601;refseq.end_1=61663889;refseq.end_2=61663889;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7401;refseq.mrnaCoord_2=4906;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T2170M;refseq.proteinCoordStr_2=p.T1601M;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.start_1=61663889;refseq.start_2=61663889;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr20 61664474 . G C 131.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1268.61;QD=45.31;RankSumP=1.00000;SB=-578.62;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.6145C>G;refseq.codingCoordStr_2=c.4438C>G;refseq.codonCoord_1=2049;refseq.codonCoord_2=1480;refseq.end_1=61664474;refseq.end_2=61664474;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7037;refseq.mrnaCoord_2=4542;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q2049E;refseq.proteinCoordStr_2=p.Q1480E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-158;refseq.spliceDist_2=-158;refseq.start_1=61664474;refseq.start_2=61664474;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chr20 61664547 . A G 52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=3;HaplotypeScore=1.75;MQ=94.86;MQ0=0;OQ=583.79;QD=29.19;RankSumP=1.00000;SB=-229.09;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.6072T>C;refseq.codingCoordStr_2=c.4365T>C;refseq.codonCoord_1=2024;refseq.codonCoord_2=1455;refseq.end_1=61664547;refseq.end_2=61664547;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6964;refseq.mrnaCoord_2=4469;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P2024P;refseq.proteinCoordStr_2=p.P1455P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-231;refseq.spliceDist_2=-231;refseq.start_1=61664547;refseq.start_2=61664547;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr20 61665157 . A C 35.92 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=14;DB;DP=5;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=7.18;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.5462T>G;refseq.codingCoordStr_2=c.3755T>G;refseq.codonCoord_1=1821;refseq.codonCoord_2=1252;refseq.end_1=61665157;refseq.end_2=61665157;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6354;refseq.mrnaCoord_2=3859;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1821R;refseq.proteinCoordStr_2=p.L1252R;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-841;refseq.spliceDist_2=-841;refseq.start_1=61665157;refseq.start_2=61665157;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 1/1 chr20 61665664 . C T 77.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.01;MQ0=0;OQ=803.70;QD=32.15;RankSumP=1.00000;SB=-161.20;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.4955G>A;refseq.codingCoordStr_2=c.3248G>A;refseq.codonCoord_1=1652;refseq.codonCoord_2=1083;refseq.end_1=61665664;refseq.end_2=61665664;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5847;refseq.mrnaCoord_2=3352;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1652Q;refseq.proteinCoordStr_2=p.R1083Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-1348;refseq.spliceDist_2=-1348;refseq.start_1=61665664;refseq.start_2=61665664;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr20 61666116 . C T 151.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=8.09;MQ=98.43;MQ0=0;OQ=631.12;QD=16.18;RankSumP=1.00000;SB=-121.66;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.4503G>A;refseq.codingCoordStr_2=c.2796G>A;refseq.codonCoord_1=1501;refseq.codonCoord_2=932;refseq.end_1=61666116;refseq.end_2=61666116;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5395;refseq.mrnaCoord_2=2900;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1501L;refseq.proteinCoordStr_2=p.L932L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-1800;refseq.spliceDist_2=-1800;refseq.start_1=61666116;refseq.start_2=61666116;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 1/1 chr20 61666477 . C T 78.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=96.59;MQ0=0;OQ=1202.43;QD=34.36;RankSumP=1.00000;SB=-255.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.4142G>A;refseq.codingCoordStr_2=c.2435G>A;refseq.codonCoord_1=1381;refseq.codonCoord_2=812;refseq.end_1=61666477;refseq.end_2=61666477;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5034;refseq.mrnaCoord_2=2539;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1381K;refseq.proteinCoordStr_2=p.R812K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=1552;refseq.spliceDist_2=1552;refseq.start_1=61666477;refseq.start_2=61666477;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr20 61666626 . G C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=175;Dels=0.00;HRun=2;HaplotypeScore=17.78;MQ=97.73;MQ0=0;OQ=5703.26;QD=32.59;RankSumP=1.00000;SB=-2821.97;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3993C>G;refseq.codingCoordStr_2=c.2286C>G;refseq.codonCoord_1=1331;refseq.codonCoord_2=762;refseq.end_1=61666626;refseq.end_2=61666626;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4885;refseq.mrnaCoord_2=2390;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1331A;refseq.proteinCoordStr_2=p.A762A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=1403;refseq.spliceDist_2=1403;refseq.start_1=61666626;refseq.start_2=61666626;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr20 61667251 . T C 226.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=97.24;MQ0=0;OQ=1246.58;QD=17.31;RankSumP=1.00000;SB=-633.19;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3368A>G;refseq.codingCoordStr_2=c.1661A>G;refseq.codonCoord_1=1123;refseq.codonCoord_2=554;refseq.end_1=61667251;refseq.end_2=61667251;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4260;refseq.mrnaCoord_2=1765;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1123R;refseq.proteinCoordStr_2=p.H554R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=778;refseq.spliceDist_2=778;refseq.start_1=61667251;refseq.start_2=61667251;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr20 61667328 . A G 62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=5.27;MQ=97.81;MQ0=0;OQ=3357.90;QD=29.98;RankSumP=1.00000;SB=-1177.10;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3291T>C;refseq.codingCoordStr_2=c.1584T>C;refseq.codonCoord_1=1097;refseq.codonCoord_2=528;refseq.end_1=61667328;refseq.end_2=61667328;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4183;refseq.mrnaCoord_2=1688;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1097T;refseq.proteinCoordStr_2=p.T528T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=701;refseq.spliceDist_2=701;refseq.start_1=61667328;refseq.start_2=61667328;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr20 61668792 . C T 314.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=98.63;MQ0=0;OQ=3441.61;QD=37.82;RankSumP=1.00000;SB=-1536.05;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2363G>A;refseq.codingCoordStr_2=c.656G>A;refseq.codonCoord_1=788;refseq.codonCoord_2=219;refseq.end_1=61668792;refseq.end_2=61668792;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3255;refseq.mrnaCoord_2=760;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S788N;refseq.proteinCoordStr_2=p.S219N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-152;refseq.spliceDist_2=-152;refseq.start_1=61668792;refseq.start_2=61668792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr20 61669106 . A G 57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.97;MQ0=0;OQ=804.40;QD=29.79;RankSumP=1.00000;SB=-399.83;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2049T>C;refseq.codingCoordStr_2=c.342T>C;refseq.codonCoord_1=683;refseq.codonCoord_2=114;refseq.end_1=61669106;refseq.end_2=61669106;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2941;refseq.mrnaCoord_2=446;refseq.name2_1=PRIC285;refseq.name2_2=PRIC285;refseq.name_1=NM_001037335;refseq.name_2=NM_033405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y683Y;refseq.proteinCoordStr_2=p.Y114Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=319;refseq.spliceDist_2=446;refseq.start_1=61669106;refseq.start_2=61669106;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr20 61671019 . T C 321.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.09;MQ0=0;OQ=3757.68;QD=38.34;RankSumP=1.00000;SB=-994.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1014A>G;refseq.codonCoord=338;refseq.end=61671019;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1906;refseq.name=NM_001037335;refseq.name2=PRIC285;refseq.positionType=CDS;refseq.proteinCoordStr=p.S338S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-75;refseq.start=61671019;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr20 61671020 . G A 193.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=98.07;MQ0=0;OQ=3614.56;QD=37.65;RankSumP=1.00000;SB=-1012.99;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1013C>T;refseq.codonCoord=338;refseq.end=61671020;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_001037335;refseq.name2=PRIC285;refseq.positionType=CDS;refseq.proteinCoordStr=p.S338L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-76;refseq.start=61671020;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr20 61671304 . A G 70.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.35;MQ0=0;OQ=1669.05;QD=31.49;RankSumP=1.00000;SB=-702.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.729T>C;refseq.codonCoord=243;refseq.end=61671304;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1621;refseq.name=NM_001037335;refseq.name2=PRIC285;refseq.positionType=CDS;refseq.proteinCoordStr=p.A243A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=159;refseq.start=61671304;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr20 61674041 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.0111417;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.142A>C;refseq.codonCoord=48;refseq.end=61674041;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1034;refseq.name=NM_001037335;refseq.name2=PRIC285;refseq.positionType=CDS;refseq.proteinCoordStr=p.T48P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-137;refseq.start=61674041;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr20 61692054 . T C 158.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=13.40;MQ=97.94;MQ0=0;OQ=6327.60;QD=34.39;RankSumP=1.00000;SB=-2224.56;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1425A>G;refseq.codonCoord=475;refseq.end=61692054;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1555;refseq.name=NM_012384;refseq.name2=GMEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L475L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=473;refseq.start=61692054;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr20 61692210 . C T 206.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=96.37;MQ0=0;OQ=735.70;QD=36.78;RankSumP=1.00000;SB=-41.55;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1269G>A;refseq.codonCoord=423;refseq.end=61692210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1399;refseq.name=NM_012384;refseq.name2=GMEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P423P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=317;refseq.start=61692210;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr20 61697525 . A G 158.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.72;MQ0=0;OQ=1863.72;QD=30.06;RankSumP=1.00000;SB=-945.72;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.501T>C;refseq.codonCoord=167;refseq.end=61697525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=631;refseq.name=NM_012384;refseq.name2=GMEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H167H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=40;refseq.start=61697525;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr20 61706592 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=19;DB;DP=322;Dels=0.00;HRun=1;HaplotypeScore=55.70;MQ=96.56;MQ0=0;OQ=5706.59;QD=17.72;RankSumP=1.00000;SB=-2575.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.177A>G;refseq.codonCoord=59;refseq.end=61706592;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=307;refseq.name=NM_012384;refseq.name2=GMEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A59A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=46;refseq.start=61706592;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr20 61721095 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=170;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.69;MQ0=0;OQ=2666.40;QD=15.68;RankSumP=0.448923;SB=-990.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.100G>A;refseq.codonCoord=34;refseq.end=61721095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=230;refseq.name=NM_012384;refseq.name2=GMEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V34M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-32;refseq.start=61721095;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr20 61791412 . T C 179.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=98.36;MQ0=0;OQ=2049.02;QD=16.01;RankSumP=0.0560830;SB=-1009.93;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.1992T>C;refseq.codingCoordStr_2=c.1992T>C;refseq.codonCoord_1=664;refseq.codonCoord_2=664;refseq.end_1=61791412;refseq.end_2=61791412;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2335;refseq.mrnaCoord_2=2335;refseq.name2_1=RTEL1;refseq.name2_2=RTEL1;refseq.name_1=NM_016434;refseq.name_2=NM_032957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D664D;refseq.proteinCoordStr_2=p.D664D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=61791412;refseq.start_2=61791412;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr20 61792099 . G A 136.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.95;MQ0=0;OQ=640.10;QD=21.34;RankSumP=0.532763;SB=-230.91;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2274G>A;refseq.codingCoordStr_2=c.2274G>A;refseq.codonCoord_1=758;refseq.codonCoord_2=758;refseq.end_1=61792099;refseq.end_2=61792099;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2617;refseq.mrnaCoord_2=2617;refseq.name2_1=RTEL1;refseq.name2_2=RTEL1;refseq.name_1=NM_016434;refseq.name_2=NM_032957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A758A;refseq.proteinCoordStr_2=p.A758A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=61792099;refseq.start_2=61792099;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr20 61792732 . T C 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=7;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=58.99;QD=8.43;RankSumP=0.314286;SB=-10.00;SecondBestBaseQ=22;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.2544T>C;refseq.codingCoordStr_2=c.2544T>C;refseq.codonCoord_1=848;refseq.codonCoord_2=848;refseq.end_1=61792732;refseq.end_2=61792732;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2887;refseq.mrnaCoord_2=2887;refseq.name2_1=RTEL1;refseq.name2_2=RTEL1;refseq.name_1=NM_016434;refseq.name_2=NM_032957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P848P;refseq.proteinCoordStr_2=p.P848P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=61792732;refseq.start_2=61792732;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=soap-filterIngatk GT 1/0 chr20 61796554 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=15;Dels=0.00;HRun=2;HaplotypeScore=1.53;MQ=96.73;MQ0=0;OQ=328.03;QD=21.87;RankSumP=0.527273;SB=-118.98;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.3126A>C;refseq.codingCoordStr_2=c.3126A>C;refseq.codonCoord_1=1042;refseq.codonCoord_2=1042;refseq.end_1=61796554;refseq.end_2=61796554;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3469;refseq.mrnaCoord_2=3469;refseq.name2_1=RTEL1;refseq.name2_2=RTEL1;refseq.name_1=NM_016434;refseq.name_2=NM_032957;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q1042H;refseq.proteinCoordStr_2=p.Q1042H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=61796554;refseq.start_2=61796554;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr20 61798707 . T G 59 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=71;Dels=0.00;HRun=2;HaplotypeScore=35.04;MQ=95.20;MQ0=0;QD=0.45;RankSumP=6.67559e-07;SB=62.22;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.143T>G;refseq.codingCoordStr_2=c.143T>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=61798707;refseq.end_2=61798707;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=243;refseq.mrnaCoord_2=577;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V48G;refseq.proteinCoordStr_2=p.V48G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=243;refseq.spliceDist_2=151;refseq.start_1=61798707;refseq.start_2=61798707;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr20 61798711 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=35.35;MQ=95.38;MQ0=0;OQ=679.64;QD=10.30;RankSumP=0.337729;SB=-160.67;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.147C>T;refseq.codingCoordStr_2=c.147C>T;refseq.codonCoord_1=49;refseq.codonCoord_2=49;refseq.end_1=61798711;refseq.end_2=61798711;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=247;refseq.mrnaCoord_2=581;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C49C;refseq.proteinCoordStr_2=p.C49C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=247;refseq.spliceDist_2=155;refseq.start_1=61798711;refseq.start_2=61798711;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr20 61798819 . A G 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=115;Dels=0.00;HRun=1;HaplotypeScore=12.38;MQ=95.73;MQ0=0;OQ=2968.68;QD=25.81;RankSumP=1.00000;SB=-454.81;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.255A>G;refseq.codingCoordStr_2=c.255A>G;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.end_1=61798819;refseq.end_2=61798819;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=355;refseq.mrnaCoord_2=689;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L85L;refseq.proteinCoordStr_2=p.L85L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=-170;refseq.spliceDist_2=-170;refseq.start_1=61798819;refseq.start_2=61798819;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr20 61798897 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=12;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=15.53;MQ=92.53;MQ0=0;OQ=400.09;QD=8.34;RankSumP=0.0413901;SB=-167.61;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.333T>C;refseq.codingCoordStr_2=c.333T>C;refseq.codonCoord_1=111;refseq.codonCoord_2=111;refseq.end_1=61798897;refseq.end_2=61798897;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=433;refseq.mrnaCoord_2=767;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R111R;refseq.proteinCoordStr_2=p.R111R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-92;refseq.spliceDist_2=-92;refseq.start_1=61798897;refseq.start_2=61798897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr20 61799186 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=98.45;MQ0=0;OQ=871.43;QD=12.27;RankSumP=0.331717;SB=-432.89;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.486C>T;refseq.codingCoordStr_2=c.486C>T;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=61799186;refseq.end_2=61799186;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=586;refseq.mrnaCoord_2=920;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S162S;refseq.proteinCoordStr_2=p.S162S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=62;refseq.spliceDist_2=62;refseq.start_1=61799186;refseq.start_2=61799186;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr20 61799273 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=98.64;MQ0=0;OQ=325.62;QD=13.57;RankSumP=0.155086;SB=-48.90;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.573C>G;refseq.codingCoordStr_2=c.573C>G;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.end_1=61799273;refseq.end_2=61799273;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=673;refseq.mrnaCoord_2=1007;refseq.name2_1=TNFRSF6B;refseq.name2_2=TNFRSF6B;refseq.name_1=NM_003823;refseq.name_2=NM_032945;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T191T;refseq.proteinCoordStr_2=p.T191T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=61799273;refseq.start_2=61799273;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr20 61802294 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=6.87448e-08;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.*100T>G;refseq.codingCoordStr_2=c.551T>G;refseq.codonCoord_2=184;refseq.end_1=61802294;refseq.end_2=61802294;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=760;refseq.mrnaCoord_2=689;refseq.name2_1=ARFRP1;refseq.name2_2=ARFRP1;refseq.name_1=NM_001134758;refseq.name_2=NM_003224;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V184G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=205;refseq.spliceDist_2=33;refseq.start_1=61802294;refseq.start_2=61802294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr20 61802433 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=98.11;MQ0=0;OQ=421.82;QD=5.02;RankSumP=0.0418800;SB=-54.06;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.codingCoordStr_1=c.483A>C;refseq.codingCoordStr_2=c.483A>C;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=61802433;refseq.end_2=61802433;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=621;refseq.name2_1=ARFRP1;refseq.name2_2=ARFRP1;refseq.name_1=NM_001134758;refseq.name_2=NM_003224;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R161R;refseq.proteinCoordStr_2=p.R161R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=66;refseq.spliceDist_2=-36;refseq.start_1=61802433;refseq.start_2=61802433;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr20 61810559 . C G 273.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.44;MQ0=0;OQ=3491.73;QD=43.65;RankSumP=1.00000;SB=-1747.19;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.183C>G;refseq.codingCoordStr_2=c.183C>G;refseq.codingCoordStr_3=c.183C>G;refseq.codonCoord_1=61;refseq.codonCoord_2=61;refseq.codonCoord_3=61;refseq.end_1=61810559;refseq.end_2=61810559;refseq.end_3=61810559;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=329;refseq.mrnaCoord_2=361;refseq.mrnaCoord_3=302;refseq.name2_1=ZGPAT;refseq.name2_2=ZGPAT;refseq.name2_3=ZGPAT;refseq.name_1=NM_001083113;refseq.name_2=NM_032527;refseq.name_3=NM_181485;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S61R;refseq.proteinCoordStr_2=p.S61R;refseq.proteinCoordStr_3=p.S61R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=211;refseq.spliceDist_2=211;refseq.spliceDist_3=211;refseq.start_1=61810559;refseq.start_2=61810559;refseq.start_3=61810559;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;set=Intersection GT 1/1 chr20 61810724 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=6.26968e-09;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_1=c.348T>G;refseq.codingCoordStr_2=c.348T>G;refseq.codingCoordStr_3=c.348T>G;refseq.codonCoord_1=116;refseq.codonCoord_2=116;refseq.codonCoord_3=116;refseq.end_1=61810724;refseq.end_2=61810724;refseq.end_3=61810724;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=494;refseq.mrnaCoord_2=526;refseq.mrnaCoord_3=467;refseq.name2_1=ZGPAT;refseq.name2_2=ZGPAT;refseq.name2_3=ZGPAT;refseq.name_1=NM_001083113;refseq.name_2=NM_032527;refseq.name_3=NM_181485;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G116G;refseq.proteinCoordStr_2=p.G116G;refseq.proteinCoordStr_3=p.G116G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-237;refseq.spliceDist_2=-237;refseq.spliceDist_3=-237;refseq.start_1=61810724;refseq.start_2=61810724;refseq.start_3=61810724;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr20 61843257 . G A 216.32 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=98.71;MQ0=0;OQ=4093.22;QD=37.55;RankSumP=1.00000;SB=-902.03;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.372G>A;refseq.codonCoord=124;refseq.end=61843257;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=427;refseq.name=NM_020062;refseq.name2=SLC2A4RG;refseq.positionType=CDS;refseq.proteinCoordStr=p.P124P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-20;refseq.start=61843257;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr20 61844151 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=11.36;MQ=98.36;MQ0=0;OQ=1060.18;QD=10.29;RankSumP=0.409657;SB=-391.10;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.699G>T;refseq.codonCoord=233;refseq.end=61844151;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_020062;refseq.name2=SLC2A4RG;refseq.positionType=CDS;refseq.proteinCoordStr=p.E233D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=19;refseq.start=61844151;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr20 61848793 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=12.33;MQ=98.04;MQ0=0;OQ=946.53;QD=9.37;RankSumP=0.342921;SB=-176.21;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1704G>A;refseq.codonCoord=568;refseq.end=61848793;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_025224;refseq.name2=ZBTB46;refseq.positionType=CDS;refseq.proteinCoordStr=p.E568E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=306;refseq.start=61848793;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr20 61848808 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=7.08;MQ=98.17;MQ0=0;OQ=1295.65;QD=10.45;RankSumP=0.379418;SB=-269.12;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1689G>A;refseq.codonCoord=563;refseq.end=61848808;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1890;refseq.name=NM_025224;refseq.name2=ZBTB46;refseq.positionType=CDS;refseq.proteinCoordStr=p.A563A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=291;refseq.start=61848808;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr20 61892066 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=10.08;MQ=98.24;MQ0=0;OQ=777.86;QD=8.74;RankSumP=0.222400;SB=-316.99;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.489T>C;refseq.codonCoord=163;refseq.end=61892066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=690;refseq.name=NM_025224;refseq.name2=ZBTB46;refseq.positionType=CDS;refseq.proteinCoordStr=p.A163A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-449;refseq.start=61892066;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr20 61892400 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.155G>C;refseq.codonCoord=52;refseq.end=61892400;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=356;refseq.name=NM_025224;refseq.name2=ZBTB46;refseq.positionType=CDS;refseq.proteinCoordStr=p.S52T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=188;refseq.start=61892400;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr20 61892524 . T C 156.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=96.68;MQ0=0;OQ=701.43;QD=15.25;RankSumP=0.190148;SB=-175.32;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.31A>G;refseq.codonCoord=11;refseq.end=61892524;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=232;refseq.name=NM_025224;refseq.name2=ZBTB46;refseq.positionType=CDS;refseq.proteinCoordStr=p.T11A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=64;refseq.start=61892524;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr20 61963366 . T A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=171.65;QD=6.60;RankSumP=0.711512;SB=-63.72;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.29T>A;refseq.codonCoord=10;refseq.end=61963366;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_080622;refseq.name2=C20orf135;refseq.positionType=CDS;refseq.proteinCoordStr=p.L10Q;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=357;refseq.start=61963366;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr20 61964076 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=6.89397e-12;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.739T>G;refseq.codonCoord=247;refseq.end=61964076;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1067;refseq.name=NM_080622;refseq.name2=C20orf135;refseq.positionType=CDS;refseq.proteinCoordStr=p.S247A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-710;refseq.start=61964076;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=FilteredInAll GT 1/0 chr20 62021268 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=29.07;MQ0=56;OQ=818.58;QD=4.62;RankSumP=0.684151;SB=-357.31;SecondBestBaseQ=29;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.end_1=62030121;refseq.end_2=62021268;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=31;refseq.name2_1=DNAJC5;refseq.name2_2=MIR941-1;refseq.name_1=NM_025219;refseq.name_2=NR_030637;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=31;refseq.start_1=61997131;refseq.start_2=62021268;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/0 chr20 62048370 . T G 2 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=6.56531e-09;SecondBestBaseQ=10;set=FilteredInAll GT 1/0 chr20 62065613 . A G 165.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=377;Dels=0.00;HRun=0;HaplotypeScore=17.34;MQ=98.33;MQ0=0;OQ=7379.44;QD=19.57;RankSumP=0.265820;SB=-2413.06;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.1578T>C;refseq.codonCoord=526;refseq.end=62065613;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1632;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L526L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-28;refseq.start=62065613;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 0/1 chr20 62065991 . C T 260.54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=14.92;MQ=98.49;MQ0=0;OQ=3045.45;QD=17.81;RankSumP=0.0909779;SB=-1322.38;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1357G>A;refseq.codonCoord=453;refseq.end=62065991;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1411;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A453T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=24;refseq.start=62065991;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr20 62066434 . T C 202.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=98.70;MQ0=0;OQ=1994.84;QD=14.15;RankSumP=0.325882;SB=-908.15;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.1114A>G;refseq.codonCoord=372;refseq.end=62066434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1168;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M372V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=80;refseq.start=62066434;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr20 62068110 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;DB;DP=912;Dels=0.00;HRun=0;HaplotypeScore=123.43;MQ=98.26;MQ0=0;OQ=15596.57;QD=17.10;RankSumP=0.404817;SB=-6703.52;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.862G>A;refseq.codonCoord=288;refseq.end=62068110;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=916;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V288M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-173;refseq.start=62068110;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 0/1 chr20 62068138 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=1304;Dels=0.00;HRun=0;HaplotypeScore=42.62;MQ=98.57;MQ0=0;OQ=25313.03;QD=19.41;RankSumP=0.0314063;SB=-8107.07;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.834A>C;refseq.codonCoord=278;refseq.end=62068138;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=888;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V278V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-201;refseq.start=62068138;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr20 62069259 . C T 170.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=16.62;MQ=98.66;MQ0=0;OQ=4228.65;QD=16.65;RankSumP=0.233033;SB=-867.28;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.183G>A;refseq.codonCoord=61;refseq.end=62069259;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=237;refseq.name=NM_020713;refseq.name2=ZNF512B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=62;refseq.start=62069259;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr20 62140807 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=4.11353e-05;SecondBestBaseQ=15;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.end_1=62140807;refseq.end_2=62140807;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.mrnaCoord_1=4312;refseq.mrnaCoord_2=4282;refseq.name2_1=NCRNA00176;refseq.name2_2=NCRNA00176;refseq.name_1=NR_027686;refseq.name_2=NR_027687;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.spliceDist_1=389;refseq.spliceDist_2=512;refseq.start_1=62140807;refseq.start_2=62140807;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 0/1 chr20 62150159 . G A 19.35 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=95.55;MQ0=0;QD=1.49;SB=-27.48;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.959C>T;refseq.codonCoord=320;refseq.end=62150159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1069;refseq.name=NM_018419;refseq.name2=SOX18;refseq.positionType=CDS;refseq.proteinCoordStr=p.A320V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=601;refseq.start=62150159;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:11,2:9:-7.92,-2.71,-26.48:52.14 chr20 62185227 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=5.57;MQ=98.75;MQ0=0;OQ=910.46;QD=10.12;RankSumP=0.260902;SB=-480.63;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.chr_1=chr20;refseq.chr_2=chr20;refseq.chr_3=chr20;refseq.codingCoordStr_3=c.678G>C;refseq.codonCoord_3=226;refseq.end_1=62193752;refseq.end_2=62194474;refseq.end_3=62185227;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=818;refseq.name2_1=OPRL1;refseq.name2_2=OPRL1;refseq.name2_3=C20orf201;refseq.name_1=NM_182647;refseq.name_2=NM_000913;refseq.name_3=NM_001007125;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A226A;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_3=-51;refseq.start_1=62182160;refseq.start_2=62182160;refseq.start_3=62185227;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ala;refseq.variantCodon_3=GCC;set=Intersection GT 1/0 chr20 62207981 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=97.47;MQ0=0;OQ=906.19;QD=15.10;RankSumP=0.136640;SB=-443.19;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr20;refseq.codingCoordStr=c.648G>T;refseq.codonCoord=216;refseq.end=62207981;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=648;refseq.name=NM_005286;refseq.name2=NPBWR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T216T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-355;refseq.start=62207981;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr20 62208012 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=5.52;MQ=97.57;MQ0=0;OQ=673.68;QD=8.98;RankSumP=0.0187820;SB=-288.31;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr20;refseq.codingCoordStr=c.617A>G;refseq.codonCoord=206;refseq.end=62208012;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=617;refseq.name=NM_005286;refseq.name2=NPBWR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q206R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-386;refseq.start=62208012;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/0 chr21 9932182 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=15.08;MQ=90.39;MQ0=11;OQ=2569.42;QD=6.22;RankSumP=5.18858e-06;SB=-589.09;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1391A>C;refseq.codingCoordStr_2=c.1331A>C;refseq.codingCoordStr_3=c.1445A>C;refseq.codonCoord_1=464;refseq.codonCoord_2=444;refseq.codonCoord_3=482;refseq.end_1=9932182;refseq.end_2=9932182;refseq.end_3=9932182;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1759;refseq.mrnaCoord_2=1699;refseq.mrnaCoord_3=1813;refseq.name2_1=TPTE;refseq.name2_2=TPTE;refseq.name2_3=TPTE;refseq.name_1=NM_199259;refseq.name_2=NM_199260;refseq.name_3=NM_199261;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y464S;refseq.proteinCoordStr_2=p.Y444S;refseq.proteinCoordStr_3=p.Y482S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=9932182;refseq.start_2=9932182;refseq.start_3=9932182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=filterInsoap-gatk GT 1/0 chr21 9932218 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=492;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=94.53;MQ0=6;OQ=11946.60;QD=24.28;RankSumP=0.263781;SB=-5209.91;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1355T>C;refseq.codingCoordStr_2=c.1295T>C;refseq.codingCoordStr_3=c.1409T>C;refseq.codonCoord_1=452;refseq.codonCoord_2=432;refseq.codonCoord_3=470;refseq.end_1=9932218;refseq.end_2=9932218;refseq.end_3=9932218;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1723;refseq.mrnaCoord_2=1663;refseq.mrnaCoord_3=1777;refseq.name2_1=TPTE;refseq.name2_2=TPTE;refseq.name2_3=TPTE;refseq.name_1=NM_199259;refseq.name_2=NM_199260;refseq.name_3=NM_199261;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L452P;refseq.proteinCoordStr_2=p.L432P;refseq.proteinCoordStr_3=p.L470P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.start_1=9932218;refseq.start_2=9932218;refseq.start_3=9932218;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr21 9941969 . T C 383.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=77.87;MQ0=7;OQ=4131.12;QD=37.56;RankSumP=1.00000;SB=-1033.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1102A>G;refseq.codingCoordStr_2=c.1042A>G;refseq.codingCoordStr_3=c.1156A>G;refseq.codonCoord_1=368;refseq.codonCoord_2=348;refseq.codonCoord_3=386;refseq.end_1=9941969;refseq.end_2=9941969;refseq.end_3=9941969;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1470;refseq.mrnaCoord_2=1410;refseq.mrnaCoord_3=1524;refseq.name2_1=TPTE;refseq.name2_2=TPTE;refseq.name2_3=TPTE;refseq.name_1=NM_199259;refseq.name_2=NM_199260;refseq.name_3=NM_199261;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.K368E;refseq.proteinCoordStr_2=p.K348E;refseq.proteinCoordStr_3=p.K386E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.spliceDist_3=-15;refseq.start_1=9941969;refseq.start_2=9941969;refseq.start_3=9941969;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=Intersection GT 1/1 chr21 13904635 . G A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=404;Dels=0.00;HRun=0;HaplotypeScore=7.53;MQ=32.46;MQ0=17;OQ=722.33;QD=1.79;SB=-338.90;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.215G>A;refseq.codonCoord=72;refseq.end=13904635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.C72Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=267;refseq.start=13904635;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:344,60:307:-167.96,-92.45,-1117.57:99 chr21 13904757 . G A 87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=21.09;MQ0=117;OQ=1708.40;QD=6.47;RankSumP=0.267456;SB=-833.84;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.337G>A;refseq.codonCoord=113;refseq.end=13904757;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.G113S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-185;refseq.start=13904757;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr21 13904823 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.273822;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.403A>G;refseq.codonCoord=135;refseq.end=13904823;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=455;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.I135V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-119;refseq.start=13904823;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 0/1 chr21 13909592 . A G 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.491805;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.640A>G;refseq.codonCoord=214;refseq.end=13909592;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.I214V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=13909592;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr21 13909682 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=378;Dels=0.00;HRun=0;HaplotypeScore=15.11;MQ=34.11;MQ0=154;OQ=4665.48;QD=12.34;RankSumP=0.416160;SB=-1156.12;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.730C>T;refseq.codonCoord=244;refseq.end=13909682;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.H244Y;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-81;refseq.start=13909682;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr21 13909742 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=15.18;MQ0=242;OQ=237.25;QD=0.93;RankSumP=0.307136;SB=-10.00;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.790G>T;refseq.codonCoord=264;refseq.end=13909742;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=842;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.D264Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-21;refseq.start=13909742;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chr21 13912546 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.338696;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.816C>G;refseq.codonCoord=272;refseq.end=13912546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=868;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.G272G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=13912546;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr21 13912586 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.433239;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.856C>G;refseq.codonCoord=286;refseq.end=13912586;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=908;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q286E;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=46;refseq.start=13912586;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 1/0 chr21 13912629 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.280376;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.899T>C;refseq.codonCoord=300;refseq.end=13912629;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=951;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.V300A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-19;refseq.start=13912629;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 1/0 chr21 13914389 . T C 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=656;Dels=0.00;HRun=0;HaplotypeScore=23.10;MQ=6.25;MQ0=636;OQ=147.02;QD=0.22;RankSumP=0.398238;SB=-90.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.957T>C;refseq.codonCoord=319;refseq.end=13914389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.S319S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=40;refseq.start=13914389;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr21 13914404 . A C 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.148573;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.972A>C;refseq.codonCoord=324;refseq.end=13914404;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1024;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.L324L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=55;refseq.start=13914404;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=soap GT 0/1 chr21 13922590 . G A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.233092;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1143G>A;refseq.codonCoord=381;refseq.end=13922590;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1195;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.L381L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=17;refseq.start=13922590;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT 1/0 chr21 13925242 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.246595;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1352G>A;refseq.codonCoord=451;refseq.end=13925242;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1404;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.R451K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-58;refseq.start=13925242;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=soap GT 1/0 chr21 13933710 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.646016;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1413T>C;refseq.codonCoord=471;refseq.end=13933710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1465;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.D471D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=13933710;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr21 13933813 . C A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=4.23278e-05;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1516C>A;refseq.codonCoord=506;refseq.end=13933813;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1568;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q506K;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-18;refseq.start=13933813;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=FilteredInAll GT 1/0 chr21 13935606 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=32.41;MQ0=45;OQ=2194.22;QD=9.50;RankSumP=0.313819;SB=-902.10;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1603A>G;refseq.codonCoord=535;refseq.end=13935606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1655;refseq.name=NM_174981;refseq.name2=POTED;refseq.positionType=CDS;refseq.proteinCoordStr=p.M535V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=70;refseq.start=13935606;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr21 14403236 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=505;Dels=0.00;HRun=1;HaplotypeScore=29.33;MQ=98.82;MQ0=0;OQ=8330.31;QD=16.50;RankSumP=0.399795;SB=-2323.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1395C>A;refseq.codonCoord=465;refseq.end=14403236;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1405;refseq.name=NM_198996;refseq.name2=LIPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.D465E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=37;refseq.start=14403236;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr21 14438819 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=118;Dels=0.00;HRun=3;HaplotypeScore=10.00;MQ=98.97;MQ0=0;OQ=1450.88;QD=12.30;RankSumP=0.473585;SB=-311.70;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1354G>A;refseq.codonCoord=452;refseq.end=14438819;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1364;refseq.name=NM_198996;refseq.name2=LIPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.E452K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=14438819;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chr21 14438847 . T A 422.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=6931.01;QD=41.01;RankSumP=1.00000;SB=-2714.30;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1326A>T;refseq.codonCoord=442;refseq.end=14438847;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1336;refseq.name=NM_198996;refseq.name2=LIPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.R442S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-33;refseq.start=14438847;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr21 14675726 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.35T>G;refseq.codonCoord=12;refseq.end=14675726;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=104;refseq.name=NM_006948;refseq.name2=HSPA13;refseq.positionType=CDS;refseq.proteinCoordStr=p.V12G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=14675726;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr21 14840448 . G C 363.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.92;MQ0=0;OQ=5344.16;QD=20.32;RankSumP=0.199730;SB=-2179.89;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.6C>G;refseq.codonCoord=2;refseq.end=14840448;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=88;refseq.name=NM_022136;refseq.name2=SAMSN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-52;refseq.start=14840448;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr21 15262160 . C T 419.39 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=2674.29;QD=40.52;RankSumP=1.00000;SB=-1326.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.225G>A;refseq.codonCoord=75;refseq.end=15262160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=823;refseq.name=NM_003489;refseq.name2=NRIP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G75G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=559;refseq.start=15262160;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr21 17859629 . A G 191.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=420;Dels=0.00;HRun=0;HaplotypeScore=7.84;MQ=98.48;MQ0=0;OQ=5760.10;QD=13.71;RankSumP=0.0530307;SB=-1996.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.846A>G;refseq.codonCoord=282;refseq.end=17859629;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_001338;refseq.name2=CXADR;refseq.positionType=CDS;refseq.proteinCoordStr=p.P282P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=13;refseq.start=17859629;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr21 18091089 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=290;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=99.00;MQ0=0;OQ=14424.23;QD=49.74;RankSumP=1.00000;SB=-4207.22;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.345C>G;refseq.codingCoordStr_2=c.345C>G;refseq.codingCoordStr_3=c.345C>G;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.codonCoord_3=115;refseq.end_1=18091089;refseq.end_2=18091089;refseq.end_3=18091089;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=436;refseq.mrnaCoord_2=436;refseq.mrnaCoord_3=436;refseq.name2_1=C21orf91;refseq.name2_2=C21orf91;refseq.name2_3=C21orf91;refseq.name_1=NM_001100420;refseq.name_2=NM_001100421;refseq.name_3=NM_017447;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N115K;refseq.proteinCoordStr_2=p.N115K;refseq.proteinCoordStr_3=p.N115K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=218;refseq.spliceDist_2=218;refseq.spliceDist_3=218;refseq.start_1=18091089;refseq.start_2=18091089;refseq.start_3=18091089;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;set=Intersection GT 1/1 chr21 18588482 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2462T>G;refseq.codonCoord=821;refseq.end=18588482;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2493;refseq.name=NM_002772;refseq.name2=PRSS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.V821G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-25;refseq.start=18588482;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr21 18591989 . G A 375.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=98.88;MQ0=0;OQ=7726.95;QD=43.66;RankSumP=1.00000;SB=-2923.76;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2194C>T;refseq.codonCoord=732;refseq.end=18591989;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2225;refseq.name=NM_002772;refseq.name2=PRSS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.P732S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=29;refseq.start=18591989;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr21 18635692 . C T 331.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=338;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=98.93;MQ0=0;OQ=6621.84;QD=19.59;RankSumP=0.493878;SB=-2472.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1473G>A;refseq.codonCoord=491;refseq.end=18635692;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1504;refseq.name=NM_002772;refseq.name2=PRSS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.A491A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=45;refseq.start=18635692;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr21 21712706 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1426A>C;refseq.codonCoord=476;refseq.end=21712706;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1675;refseq.name=NM_004540;refseq.name2=NCAM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T476P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=43;refseq.start=21712706;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr21 25887019 . G A 417.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=233;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.97;MQ0=0;OQ=9694.01;QD=41.61;RankSumP=1.00000;SB=-2938.91;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.897C>T;refseq.codingCoordStr_2=c.897C>T;refseq.codonCoord_1=299;refseq.codonCoord_2=299;refseq.end_1=25887019;refseq.end_2=25887019;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=911;refseq.mrnaCoord_2=911;refseq.name2_1=MRPL39;refseq.name2_2=MRPL39;refseq.name_1=NM_017446;refseq.name_2=NM_080794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G299G;refseq.proteinCoordStr_2=p.G299G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=25887019;refseq.start_2=25887019;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr21 25887076 . T C 303.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=7.42;MQ=98.80;MQ0=0;OQ=10773.33;QD=41.28;RankSumP=1.00000;SB=-4594.53;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.840A>G;refseq.codingCoordStr_2=c.840A>G;refseq.codonCoord_1=280;refseq.codonCoord_2=280;refseq.end_1=25887076;refseq.end_2=25887076;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=854;refseq.mrnaCoord_2=854;refseq.name2_1=MRPL39;refseq.name2_2=MRPL39;refseq.name_1=NM_017446;refseq.name_2=NM_080794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V280V;refseq.proteinCoordStr_2=p.V280V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=25887076;refseq.start_2=25887076;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr21 25891574 . T C 207.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1448.62;QD=42.61;RankSumP=1.00000;SB=-346.47;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.612A>G;refseq.codingCoordStr_2=c.612A>G;refseq.codonCoord_1=204;refseq.codonCoord_2=204;refseq.end_1=25891574;refseq.end_2=25891574;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=626;refseq.mrnaCoord_2=626;refseq.name2_1=MRPL39;refseq.name2_2=MRPL39;refseq.name_1=NM_017446;refseq.name_2=NM_080794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K204K;refseq.proteinCoordStr_2=p.K204K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=25891574;refseq.start_2=25891574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 1/1 chr21 25900821 . A G 321.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=99.00;MQ0=0;OQ=6123.97;QD=42.53;RankSumP=1.00000;SB=-2329.01;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.91T>C;refseq.codingCoordStr_2=c.91T>C;refseq.codonCoord_1=31;refseq.codonCoord_2=31;refseq.end_1=25900821;refseq.end_2=25900821;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=105;refseq.mrnaCoord_2=105;refseq.name2_1=MRPL39;refseq.name2_2=MRPL39;refseq.name_1=NM_017446;refseq.name_2=NM_080794;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S31P;refseq.proteinCoordStr_2=p.S31P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=25900821;refseq.start_2=25900821;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr21 26774595 . A G 219.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.71;MQ0=0;OQ=4938.63;QD=22.97;RankSumP=0.436283;SB=-1766.36;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.201T>C;refseq.codonCoord=67;refseq.end=26774595;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=523;refseq.name=NM_052954;refseq.name2=CYYR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V67V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=25;refseq.start=26774595;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr21 27134631 . G A 251.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=99.00;MQ0=0;OQ=1895.53;QD=19.95;RankSumP=0.491753;SB=-834.83;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1500C>T;refseq.codonCoord=500;refseq.end=27134631;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1955;refseq.name=NM_006988;refseq.name2=ADAMTS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P500P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=122;refseq.start=27134631;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr21 27138466 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.38;MQ=98.55;MQ0=0;OQ=1818.07;QD=22.17;RankSumP=0.346265;SB=-390.14;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.679G>C;refseq.codonCoord=227;refseq.end=27138466;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1134;refseq.name=NM_006988;refseq.name2=ADAMTS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A227P;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-52;refseq.start=27138466;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr21 27138563 . G T 46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=14;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=7.79;MQ=88.73;MQ0=0;OQ=74.17;QD=2.97;RankSumP=0.596898;SB=-46.93;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.582C>A;refseq.codonCoord=194;refseq.end=27138563;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1037;refseq.name=NM_006988;refseq.name2=ADAMTS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V194V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-149;refseq.start=27138563;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr21 27139049 . T G 28.73 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=4;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=7.18;RankSumP=0.400000;SB=-38.99;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.96A>C;refseq.codonCoord=32;refseq.end=27139049;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=551;refseq.name=NM_006988;refseq.name2=ADAMTS1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P32P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=551;refseq.start=27139049;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr21 27224226 . A G 326.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=1.83;MQ=99.00;MQ0=0;OQ=6451.93;QD=37.95;RankSumP=1.00000;SB=-1990.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2075T>C;refseq.codonCoord=692;refseq.end=27224226;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2804;refseq.name=NM_007038;refseq.name2=ADAMTS5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L692P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=26;refseq.start=27224226;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr21 27260294 . C G 309.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.25;MQ0=0;OQ=3360.85;QD=41.49;RankSumP=1.00000;SB=-1078.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.288G>C;refseq.codonCoord=96;refseq.end=27260294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_007038;refseq.name2=ADAMTS5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R96R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-817;refseq.start=27260294;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr21 29172426 . T C 357.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=98.45;MQ0=0;OQ=8028.86;QD=39.75;RankSumP=1.00000;SB=-2213.92;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.497A>G;refseq.codingCoordStr_2=c.413A>G;refseq.codonCoord_1=166;refseq.codonCoord_2=138;refseq.end_1=29172426;refseq.end_2=29172426;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=523;refseq.mrnaCoord_2=439;refseq.name2_1=N6AMT1;refseq.name2_2=N6AMT1;refseq.name_1=NM_013240;refseq.name_2=NM_182749;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K166R;refseq.proteinCoordStr_2=p.K138R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-42;refseq.spliceDist_2=-42;refseq.start_1=29172426;refseq.start_2=29172426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr21 29172486 . T C 101.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=15.67;MQ=98.25;MQ0=0;OQ=14222.16;QD=32.69;RankSumP=1.00000;SB=-4735.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.437A>G;refseq.codingCoordStr_2=c.353A>G;refseq.codonCoord_1=146;refseq.codonCoord_2=118;refseq.end_1=29172486;refseq.end_2=29172486;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=463;refseq.mrnaCoord_2=379;refseq.name2_1=N6AMT1;refseq.name2_2=N6AMT1;refseq.name_1=NM_013240;refseq.name_2=NM_182749;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K146R;refseq.proteinCoordStr_2=p.K118R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=29172486;refseq.start_2=29172486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chr21 29172515 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=415;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.50;MQ0=0;OQ=9658.31;QD=23.27;RankSumP=0.359742;SB=-3796.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.408C>T;refseq.codingCoordStr_2=c.324C>T;refseq.codonCoord_1=136;refseq.codonCoord_2=108;refseq.end_1=29172515;refseq.end_2=29172515;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=434;refseq.mrnaCoord_2=350;refseq.name2_1=N6AMT1;refseq.name2_2=N6AMT1;refseq.name_1=NM_013240;refseq.name_2=NM_182749;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H136H;refseq.proteinCoordStr_2=p.H108H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=29172515;refseq.start_2=29172515;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/0 chr21 29179431 . C G 260.62 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=92.82;MQ0=0;OQ=1300.22;QD=20.32;RankSumP=1.00000;SB=-288.36;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.108G>C;refseq.codingCoordStr_2=c.108G>C;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.end_1=29179431;refseq.end_2=29179431;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=134;refseq.mrnaCoord_2=134;refseq.name2_1=N6AMT1;refseq.name2_2=N6AMT1;refseq.name_1=NM_013240;refseq.name_2=NM_182749;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L36L;refseq.proteinCoordStr_2=p.L36L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.start_1=29179431;refseq.start_2=29179431;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=filterInsoap-gatk GT 1/1 chr21 29179439 . T C 43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=5.90;MQ=93.64;MQ0=0;OQ=1394.85;QD=24.91;RankSumP=1.00000;SB=-282.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.100A>G;refseq.codingCoordStr_2=c.100A>G;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=29179439;refseq.end_2=29179439;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=126;refseq.mrnaCoord_2=126;refseq.name2_1=N6AMT1;refseq.name2_2=N6AMT1;refseq.name_1=NM_013240;refseq.name_2=NM_182749;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N34D;refseq.proteinCoordStr_2=p.N34D;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=29179439;refseq.start_2=29179439;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr21 29254782 . C T 239.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.75;MQ0=0;OQ=4175.41;QD=19.24;RankSumP=0.475061;SB=-1763.65;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2419G>A;refseq.codonCoord=807;refseq.end=29254782;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2432;refseq.name=NM_015565;refseq.name2=RNF160;refseq.positionType=CDS;refseq.proteinCoordStr=p.V807I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-73;refseq.start=29254782;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr21 29263762 . A G 458.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=98.51;MQ0=0;OQ=7416.69;QD=40.75;RankSumP=1.00000;SB=-2430.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1346T>C;refseq.codonCoord=449;refseq.end=29263762;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_015565;refseq.name2=RNF160;refseq.positionType=CDS;refseq.proteinCoordStr=p.L449S;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=33;refseq.start=29263762;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr21 29279034 . G T 158.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1642.61;QD=14.67;RankSumP=0.373361;SB=-497.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.564C>A;refseq.codonCoord=188;refseq.end=29279034;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_015565;refseq.name2=RNF160;refseq.positionType=CDS;refseq.proteinCoordStr=p.P188P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=81;refseq.start=29279034;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr21 29330541 . A T 345.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.91;MQ0=0;OQ=6228.38;QD=18.87;RankSumP=4.35067e-05;SB=-1625.43;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.423A>T;refseq.codingCoordStr_2=c.423A>T;refseq.codingCoordStr_3=c.423A>T;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.end_1=29330541;refseq.end_2=29330541;refseq.end_3=29330541;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=625;refseq.mrnaCoord_2=688;refseq.mrnaCoord_3=625;refseq.name2_1=USP16;refseq.name2_2=USP16;refseq.name2_3=USP16;refseq.name_1=NM_001001992;refseq.name_2=NM_001032410;refseq.name_3=NM_006447;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q141H;refseq.proteinCoordStr_2=p.Q141H;refseq.proteinCoordStr_3=p.Q141H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=29330541;refseq.start_2=29330541;refseq.start_3=29330541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;set=filterInsoap-gatk GT 0/1 chr21 29636647 . T C 463.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.47;MQ0=0;OQ=5071.21;QD=39.31;RankSumP=1.00000;SB=-2069.84;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.1833T>C;refseq.codingCoordStr_3=c.1833T>C;refseq.codonCoord_2=611;refseq.codonCoord_3=611;refseq.end_1=29645815;refseq.end_2=29636647;refseq.end_3=29636647;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1948;refseq.mrnaCoord_3=2076;refseq.name2_1=BACH1;refseq.name2_2=BACH1;refseq.name2_3=BACH1;refseq.name_1=NR_027655;refseq.name_2=NM_001186;refseq.name_3=NM_206866;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.G611G;refseq.proteinCoordStr_3=p.G611G;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_2=57;refseq.spliceDist_3=57;refseq.start_1=29623896;refseq.start_2=29636647;refseq.start_3=29636647;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/1 chr21 29885319 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=778;Dels=0.00;HRun=0;HaplotypeScore=6.97;MQ=98.71;MQ0=0;OQ=15958.53;QD=20.51;RankSumP=0.337751;SB=-3836.51;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1349T>C;refseq.codingCoordStr_2=c.1304T>C;refseq.codonCoord_1=450;refseq.codonCoord_2=435;refseq.end_1=29885319;refseq.end_2=29885319;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1813;refseq.mrnaCoord_2=1768;refseq.name2_1=GRIK1;refseq.name2_2=GRIK1;refseq.name_1=NM_000830;refseq.name_2=NM_175611;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I450T;refseq.proteinCoordStr_2=p.I435T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=29885319;refseq.start_2=29885319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr21 29967197 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.703A>C;refseq.codingCoordStr_2=c.703A>C;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.end_1=29967197;refseq.end_2=29967197;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1167;refseq.mrnaCoord_2=1167;refseq.name2_1=GRIK1;refseq.name2_2=GRIK1;refseq.name_1=NM_000830;refseq.name_2=NM_175611;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T235P;refseq.proteinCoordStr_2=p.T235P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.start_1=29967197;refseq.start_2=29967197;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 1/0 chr21 30460389 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.418A>C;refseq.codonCoord=140;refseq.end=30460389;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=418;refseq.name=NM_012131;refseq.name2=CLDN17;refseq.positionType=CDS;refseq.proteinCoordStr=p.T140P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-258;refseq.start=30460389;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr21 30509664 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=98.93;MQ0=0;OQ=1584.04;QD=12.47;RankSumP=0.213707;SB=-598.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.451T>C;refseq.codonCoord=151;refseq.end=30509664;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=526;refseq.name=NM_199328;refseq.name2=CLDN8;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=526;refseq.start=30509664;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr21 30577083 . A C 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=98.91;MQ0=0;OQ=7149.11;QD=39.50;RankSumP=1.00000;SB=-3245.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.39T>G;refseq.codonCoord=13;refseq.end=30577083;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=65;refseq.name=NM_001085455;refseq.name2=KRTAP24-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G13G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=65;refseq.start=30577083;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr21 30724639 . G A 428.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=98.64;MQ0=0;OQ=3860.16;QD=36.76;RankSumP=1.00000;SB=-1590.71;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.175G>A;refseq.codonCoord=59;refseq.end=30724639;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=175;refseq.name=NM_181600;refseq.name2=KRTAP13-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A59T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=175;refseq.start=30724639;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr21 30734643 . C A 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=4.79;MQ=99.00;MQ0=0;OQ=7926.56;QD=38.48;RankSumP=1.00000;SB=-3515.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.127C>A;refseq.codonCoord=43;refseq.end=30734643;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_181623;refseq.name2=KRTAP15-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L43M;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=127;refseq.start=30734643;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr21 30734699 . C T 183.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=4.28;MQ=98.77;MQ0=0;OQ=2697.92;QD=16.55;RankSumP=0.354669;SB=-713.72;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.183C>T;refseq.codonCoord=61;refseq.end=30734699;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=183;refseq.name=NM_181623;refseq.name2=KRTAP15-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C61C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=183;refseq.start=30734699;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr21 30774283 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.225C>G;refseq.codonCoord=75;refseq.end=30774283;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=225;refseq.name=NM_181607;refseq.name2=KRTAP19-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C75W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-49;refseq.start=30774283;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr21 30785949 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.198C>G;refseq.codonCoord=66;refseq.end=30785949;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_181609;refseq.name2=KRTAP19-3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C66W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=198;refseq.start=30785949;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr21 30791156 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.144C>G;refseq.codonCoord=48;refseq.end=30791156;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=144;refseq.name=NM_181610;refseq.name2=KRTAP19-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y48*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-112;refseq.start=30791156;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAG;set=FilteredInAll GT 0/1 chr21 30791157 . T C 87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=38.92;MQ=93.37;MQ0=0;OQ=6562.72;QD=32.81;RankSumP=1.00000;SB=-1259.73;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.143A>G;refseq.codonCoord=48;refseq.end=30791157;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=143;refseq.name=NM_181610;refseq.name2=KRTAP19-4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y48C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-113;refseq.start=30791157;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chr21 30835853 . G A 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=2;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.171C>T;refseq.codonCoord=57;refseq.end=30835853;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=200;refseq.name=NM_181612;refseq.name2=KRTAP19-6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F57F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-129;refseq.start=30835853;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/1 chr21 30835871 . T A 100.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=7.30;MQ=86.35;MQ0=0;OQ=2013.66;QD=32.48;RankSumP=1.00000;SB=-685.02;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.153A>T;refseq.codonCoord=51;refseq.end=30835871;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=182;refseq.name=NM_181612;refseq.name2=KRTAP19-6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G51G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-147;refseq.start=30835871;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chr21 30835895 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.129C>G;refseq.codonCoord=43;refseq.end=30835895;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=158;refseq.name=NM_181612;refseq.name2=KRTAP19-6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C43W;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=158;refseq.start=30835895;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr21 30835979 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.45T>G;refseq.codonCoord=15;refseq.end=30835979;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=74;refseq.name=NM_181612;refseq.name2=KRTAP19-6;refseq.positionType=CDS;refseq.proteinCoordStr=p.C15W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=74;refseq.start=30835979;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr21 30895387 . T A 93.02 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=98.73;MQ0=0;OQ=7605.39;QD=32.78;RankSumP=1.00000;SB=-236.82;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.77T>A;refseq.codonCoord=26;refseq.end=30895387;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=77;refseq.name=NM_181620;refseq.name2=KRTAP22-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L26H;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-71;refseq.start=30895387;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/1 chr21 30929525 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.72T>G;refseq.codonCoord=24;refseq.end=30929525;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=72;refseq.name=NM_181616;refseq.name2=KRTAP20-2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C24W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=72;refseq.start=30929525;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr21 31049448 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.120T>G;refseq.codonCoord=40;refseq.end=31049448;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_181619;refseq.name2=KRTAP21-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C40W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=120;refseq.start=31049448;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 0/1 chr21 31107272 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.138C>A;refseq.codonCoord=46;refseq.end=31107272;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_175857;refseq.name2=KRTAP8-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y46*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=170;refseq.start=31107272;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr21 31175384 . A T 309.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=2.08;MQ=98.42;MQ0=0;OQ=4483.33;QD=37.05;RankSumP=1.00000;SB=-2063.01;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.331T>A;refseq.codonCoord=111;refseq.end=31175384;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_175858;refseq.name2=KRTAP11-1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C111S;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=362;refseq.start=31175384;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr21 31414902 . A G 329.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.71;MQ0=0;OQ=4123.76;QD=34.08;RankSumP=1.00000;SB=-1404.41;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.4431T>C;refseq.codonCoord=1477;refseq.end=31414902;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4903;refseq.name=NM_003253;refseq.name2=TIAM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1477G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=125;refseq.start=31414902;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr21 31966249 . G A 55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.26;MQ0=0;OQ=160.13;QD=6.16;RankSumP=0.514321;SB=-90.86;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.2733C>T;refseq.codingCoordStr_2=c.2712C>T;refseq.codingCoordStr_3=c.2778C>T;refseq.codonCoord_1=911;refseq.codonCoord_2=904;refseq.codonCoord_3=926;refseq.end_1=31966249;refseq.end_2=31966249;refseq.end_3=31966249;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3159;refseq.mrnaCoord_2=3138;refseq.mrnaCoord_3=3204;refseq.name2_1=SFRS15;refseq.name2_2=SFRS15;refseq.name2_3=SFRS15;refseq.name_1=NM_001145444;refseq.name_2=NM_001145445;refseq.name_3=NM_020706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G911G;refseq.proteinCoordStr_2=p.G904G;refseq.proteinCoordStr_3=p.G926G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=290;refseq.spliceDist_2=290;refseq.spliceDist_3=290;refseq.start_1=31966249;refseq.start_2=31966249;refseq.start_3=31966249;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=soap-filterIngatk GT 1/0 chr21 31990833 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=28.43;MQ=97.21;MQ0=0;OQ=1871.97;QD=12.24;RankSumP=0.293366;SB=-379.21;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.834A>G;refseq.codingCoordStr_2=c.879A>G;refseq.codingCoordStr_3=c.879A>G;refseq.codonCoord_1=278;refseq.codonCoord_2=293;refseq.codonCoord_3=293;refseq.end_1=31990833;refseq.end_2=31990833;refseq.end_3=31990833;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1260;refseq.mrnaCoord_2=1305;refseq.mrnaCoord_3=1305;refseq.name2_1=SFRS15;refseq.name2_2=SFRS15;refseq.name2_3=SFRS15;refseq.name_1=NM_001145444;refseq.name_2=NM_001145445;refseq.name_3=NM_020706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A278A;refseq.proteinCoordStr_2=p.A293A;refseq.proteinCoordStr_3=p.A293A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.spliceDist_3=-81;refseq.start_1=31990833;refseq.start_2=31990833;refseq.start_3=31990833;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chr21 31996504 . A G 156.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=263;Dels=0.00;HRun=0;HaplotypeScore=11.51;MQ=98.74;MQ0=0;OQ=5761.67;QD=21.91;RankSumP=0.486077;SB=-1328.00;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.336T>C;refseq.codingCoordStr_2=c.381T>C;refseq.codingCoordStr_3=c.381T>C;refseq.codonCoord_1=112;refseq.codonCoord_2=127;refseq.codonCoord_3=127;refseq.end_1=31996504;refseq.end_2=31996504;refseq.end_3=31996504;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=762;refseq.mrnaCoord_2=807;refseq.mrnaCoord_3=807;refseq.name2_1=SFRS15;refseq.name2_2=SFRS15;refseq.name2_3=SFRS15;refseq.name_1=NM_001145444;refseq.name_2=NM_001145445;refseq.name_3=NM_020706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I112I;refseq.proteinCoordStr_2=p.I127I;refseq.proteinCoordStr_3=p.I127I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.start_1=31996504;refseq.start_2=31996504;refseq.start_3=31996504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;set=Intersection GT 0/1 chr21 31998059 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.173502;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.166C>T;refseq.codingCoordStr_2=c.211C>T;refseq.codingCoordStr_3=c.211C>T;refseq.codonCoord_1=56;refseq.codonCoord_2=71;refseq.codonCoord_3=71;refseq.end_1=31998059;refseq.end_2=31998059;refseq.end_3=31998059;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.functionalClass_3=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=592;refseq.mrnaCoord_2=637;refseq.mrnaCoord_3=637;refseq.name2_1=SFRS15;refseq.name2_2=SFRS15;refseq.name2_3=SFRS15;refseq.name_1=NM_001145444;refseq.name_2=NM_001145445;refseq.name_3=NM_020706;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R56*;refseq.proteinCoordStr_2=p.R71*;refseq.proteinCoordStr_3=p.R71*;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.spliceDist_3=52;refseq.start_1=31998059;refseq.start_2=31998059;refseq.start_3=31998059;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantAA_3=Stop;refseq.variantCodon_1=TGA;refseq.variantCodon_2=TGA;refseq.variantCodon_3=TGA;set=FilteredInAll GT 1/0 chr21 32268838 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1111G>C;refseq.codonCoord=371;refseq.end=32268838;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1471;refseq.name=NM_014586;refseq.name2=HUNK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A371P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-63;refseq.start=32268838;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr21 32290059 . T C 401.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=98.74;MQ0=0;OQ=5997.20;QD=41.65;RankSumP=1.00000;SB=-2880.84;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1413T>C;refseq.codonCoord=471;refseq.end=32290059;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1773;refseq.name=NM_014586;refseq.name2=HUNK;refseq.positionType=CDS;refseq.proteinCoordStr=p.L471L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-74;refseq.start=32290059;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr21 32292771 . T C 238.28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=289;Dels=0.00;HRun=1;HaplotypeScore=7.66;MQ=98.70;MQ0=0;OQ=10543.70;QD=36.48;RankSumP=1.00000;SB=-2715.40;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1548T>C;refseq.codonCoord=516;refseq.end=32292771;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1908;refseq.name=NM_014586;refseq.name2=HUNK;refseq.positionType=CDS;refseq.proteinCoordStr=p.S516S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=62;refseq.start=32292771;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr21 32292994 . C T 257.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.66;MQ0=0;OQ=2625.86;QD=16.62;RankSumP=0.0544609;SB=-1323.78;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1771C>T;refseq.codonCoord=591;refseq.end=32292994;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2131;refseq.name=NM_014586;refseq.name2=HUNK;refseq.positionType=CDS;refseq.proteinCoordStr=p.R591C;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=285;refseq.start=32292994;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr21 32671404 . A C 287.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.85;MQ0=0;OQ=3744.18;QD=42.07;RankSumP=1.00000;SB=-1041.15;SecondBestBaseQ=0;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.end_1=32672614;refseq.end_2=32671404;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=99;refseq.name2_1=URB1;refseq.name2_2=SNORA80;refseq.name_1=NM_014825;refseq.name_2=NR_002996;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=-38;refseq.start_1=32669674;refseq.start_2=32671404;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/1 chr21 32751877 . G A 145.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.86;MQ0=0;OQ=1182.72;QD=17.65;RankSumP=0.430044;SB=-323.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.459G>A;refseq.codonCoord=153;refseq.end=32751877;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=869;refseq.name=NM_058187;refseq.name2=C21orf63;refseq.positionType=CDS;refseq.proteinCoordStr=p.L153L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-23;refseq.start=32751877;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr21 32933174 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=1.79535e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.3782A>C;refseq.codingCoordStr_2=c.3689A>C;refseq.codingCoordStr_3=c.3947A>C;refseq.codingCoordStr_4=c.3947A>C;refseq.codonCoord_1=1261;refseq.codonCoord_2=1230;refseq.codonCoord_3=1316;refseq.codonCoord_4=1316;refseq.end_1=32933174;refseq.end_2=32933174;refseq.end_3=32933174;refseq.end_4=32933174;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=3907;refseq.mrnaCoord_2=3814;refseq.mrnaCoord_3=3947;refseq.mrnaCoord_4=3947;refseq.name2_1=SYNJ1;refseq.name2_2=SYNJ1;refseq.name2_3=SYNJ1;refseq.name2_4=SYNJ1;refseq.name_1=NM_001160302;refseq.name_2=NM_001160306;refseq.name_3=NM_003895;refseq.name_4=NM_203446;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q1261P;refseq.proteinCoordStr_2=p.Q1230P;refseq.proteinCoordStr_3=p.Q1316P;refseq.proteinCoordStr_4=p.Q1316P;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.spliceDist_3=-86;refseq.spliceDist_4=-86;refseq.start_1=32933174;refseq.start_2=32933174;refseq.start_3=32933174;refseq.start_4=32933174;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=FilteredInAll GT 1/0 chr21 33021072 . C T 215.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=98.91;MQ0=0;OQ=6180.29;QD=18.39;RankSumP=0.346352;SB=-2024.82;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.6G>A;refseq.codingCoordStr_2=c.6G>A;refseq.codingCoordStr_3=c.123G>A;refseq.codingCoordStr_4=c.123G>A;refseq.codonCoord_1=2;refseq.codonCoord_2=2;refseq.codonCoord_3=41;refseq.codonCoord_4=41;refseq.end_1=33021072;refseq.end_2=33021072;refseq.end_3=33021072;refseq.end_4=33021072;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=131;refseq.mrnaCoord_2=131;refseq.mrnaCoord_3=123;refseq.mrnaCoord_4=123;refseq.name2_1=SYNJ1;refseq.name2_2=SYNJ1;refseq.name2_3=SYNJ1;refseq.name2_4=SYNJ1;refseq.name_1=NM_001160302;refseq.name_2=NM_001160306;refseq.name_3=NM_003895;refseq.name_4=NM_203446;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A2A;refseq.proteinCoordStr_2=p.A2A;refseq.proteinCoordStr_3=p.A41A;refseq.proteinCoordStr_4=p.A41A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.spliceDist_4=28;refseq.start_1=33021072;refseq.start_2=33021072;refseq.start_3=33021072;refseq.start_4=33021072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 0/1 chr21 33088061 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.377642;SecondBestBaseQ=33;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.end_1=33091108;refseq.end_2=33091108;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.name2_1=C21orf49;refseq.name2_2=C21orf49;refseq.name_1=NR_024622;refseq.name_2=NR_024623;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.start_1=33082894;refseq.start_2=33082894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=soap GT 0/1 chr21 33088063 . G A 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.292422;SecondBestBaseQ=34;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.end_1=33091108;refseq.end_2=33091108;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.name2_1=C21orf49;refseq.name2_2=C21orf49;refseq.name_1=NR_024622;refseq.name_2=NR_024623;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.start_1=33082894;refseq.start_2=33082894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=soap GT 1/0 chr21 33088213 . C T 70.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=206;Dels=0.00;HRun=1;HaplotypeScore=12.78;MQ=97.99;MQ0=0;OQ=8487.62;QD=41.20;RankSumP=1.00000;SB=-3902.43;SecondBestBaseQ=0;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.end_1=33091108;refseq.end_2=33091108;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.name2_1=C21orf49;refseq.name2_2=C21orf49;refseq.name_1=NR_024622;refseq.name_2=NR_024623;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.start_1=33082894;refseq.start_2=33082894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr21 33321271 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.62;MQ0=0;OQ=489.35;QD=6.99;RankSumP=0.495970;SB=-242.20;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.231A>G;refseq.codonCoord=77;refseq.end=33321271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_005806;refseq.name2=OLIG2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S77S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=293;refseq.start=33321271;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 0/1 chr21 33536120 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=8623.91;QD=19.47;RankSumP=0.200769;SB=-3126.01;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.23T>C;refseq.codingCoordStr_2=c.23T>C;refseq.codingCoordStr_3=c.23T>C;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.codonCoord_3=8;refseq.end_1=33536120;refseq.end_2=33536120;refseq.end_3=33536120;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=351;refseq.mrnaCoord_3=351;refseq.name2_1=IFNAR2;refseq.name2_2=IFNAR2;refseq.name2_3=IFNAR2;refseq.name_1=NM_000874;refseq.name_2=NM_207584;refseq.name_3=NM_207585;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F8S;refseq.proteinCoordStr_2=p.F8S;refseq.proteinCoordStr_3=p.F8S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=33536120;refseq.start_2=33536120;refseq.start_3=33536120;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=Intersection GT 1/0 chr21 33536125 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.97;MQ0=0;OQ=7850.21;QD=17.72;RankSumP=0.393228;SB=-3149.33;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.28T>G;refseq.codingCoordStr_2=c.28T>G;refseq.codingCoordStr_3=c.28T>G;refseq.codonCoord_1=10;refseq.codonCoord_2=10;refseq.codonCoord_3=10;refseq.end_1=33536125;refseq.end_2=33536125;refseq.end_3=33536125;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=402;refseq.mrnaCoord_2=356;refseq.mrnaCoord_3=356;refseq.name2_1=IFNAR2;refseq.name2_2=IFNAR2;refseq.name2_3=IFNAR2;refseq.name_1=NM_000874;refseq.name_2=NM_207584;refseq.name_3=NM_207585;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F10V;refseq.proteinCoordStr_2=p.F10V;refseq.proteinCoordStr_3=p.F10V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=33536125;refseq.start_2=33536125;refseq.start_3=33536125;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr21 33761284 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.115T>G;refseq.codonCoord=39;refseq.end=33761284;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=293;refseq.name=NM_006134;refseq.name2=TMEM50B;refseq.positionType=CDS;refseq.proteinCoordStr=p.W39G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=16;refseq.start=33761284;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr21 33803977 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.2435T>G;refseq.codingCoordStr_2=c.2435T>G;refseq.codingCoordStr_3=c.2435T>G;refseq.codonCoord_1=812;refseq.codonCoord_2=812;refseq.codonCoord_3=812;refseq.end_1=33803977;refseq.end_2=33803977;refseq.end_3=33803977;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2570;refseq.mrnaCoord_2=2746;refseq.mrnaCoord_3=2709;refseq.name2_1=GART;refseq.name2_2=GART;refseq.name2_3=GART;refseq.name_1=NM_000819;refseq.name_2=NM_001136005;refseq.name_3=NM_001136006;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V812G;refseq.proteinCoordStr_2=p.V812G;refseq.proteinCoordStr_3=p.V812G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=33803977;refseq.start_2=33803977;refseq.start_3=33803977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chr21 33818983 . C T 248.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=225;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.58;MQ0=0;OQ=9426.82;QD=41.90;RankSumP=1.00000;SB=-4031.87;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.1261G>A;refseq.codingCoordStr_2=c.1261G>A;refseq.codingCoordStr_3=c.1261G>A;refseq.codingCoordStr_4=c.1261G>A;refseq.codonCoord_1=421;refseq.codonCoord_2=421;refseq.codonCoord_3=421;refseq.codonCoord_4=421;refseq.end_1=33818983;refseq.end_2=33818983;refseq.end_3=33818983;refseq.end_4=33818983;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1396;refseq.mrnaCoord_2=1572;refseq.mrnaCoord_3=1535;refseq.mrnaCoord_4=1396;refseq.name2_1=GART;refseq.name2_2=GART;refseq.name2_3=GART;refseq.name2_4=GART;refseq.name_1=NM_000819;refseq.name_2=NM_001136005;refseq.name_3=NM_001136006;refseq.name_4=NM_175085;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V421I;refseq.proteinCoordStr_2=p.V421I;refseq.proteinCoordStr_3=p.V421I;refseq.proteinCoordStr_4=p.V421I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=-38;refseq.spliceDist_2=-38;refseq.spliceDist_3=-38;refseq.spliceDist_4=195;refseq.start_1=33818983;refseq.start_2=33818983;refseq.start_3=33818983;refseq.start_4=33818983;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=Intersection GT 1/1 chr21 33847012 . C T 322.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=98.66;MQ0=0;OQ=5921.54;QD=41.41;RankSumP=1.00000;SB=-2483.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3605C>T;refseq.codingCoordStr_2=c.3605C>T;refseq.codonCoord_1=1202;refseq.codonCoord_2=1202;refseq.end_1=33847012;refseq.end_2=33847012;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3654;refseq.mrnaCoord_2=3654;refseq.name2_1=SON;refseq.name2_2=SON;refseq.name_1=NM_032195;refseq.name_2=NM_138927;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1202L;refseq.proteinCoordStr_2=p.S1202L;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-2556;refseq.spliceDist_2=-2556;refseq.start_1=33847012;refseq.start_2=33847012;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=Intersection GT 1/1 chr21 33847913 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=99.00;MQ0=0;OQ=1265.56;QD=13.05;RankSumP=0.470179;SB=-608.55;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.4506G>A;refseq.codingCoordStr_2=c.4506G>A;refseq.codonCoord_1=1502;refseq.codonCoord_2=1502;refseq.end_1=33847913;refseq.end_2=33847913;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4555;refseq.mrnaCoord_2=4555;refseq.name2_1=SON;refseq.name2_2=SON;refseq.name_1=NM_032195;refseq.name_2=NM_138927;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1502I;refseq.proteinCoordStr_2=p.M1502I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-1655;refseq.spliceDist_2=-1655;refseq.start_1=33847913;refseq.start_2=33847913;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr21 33848130 . C T 356.82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.75;MQ0=0;OQ=5839.22;QD=18.08;RankSumP=0.134536;SB=-2229.04;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.4723C>T;refseq.codingCoordStr_2=c.4723C>T;refseq.codonCoord_1=1575;refseq.codonCoord_2=1575;refseq.end_1=33848130;refseq.end_2=33848130;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4772;refseq.mrnaCoord_2=4772;refseq.name2_1=SON;refseq.name2_2=SON;refseq.name_1=NM_032195;refseq.name_2=NM_138927;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1575C;refseq.proteinCoordStr_2=p.R1575C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-1438;refseq.spliceDist_2=-1438;refseq.start_1=33848130;refseq.start_2=33848130;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr21 33867591 . T C 236.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=0;HaplotypeScore=12.89;MQ=90.98;MQ0=17;OQ=5830.79;QD=19.50;RankSumP=0.140976;SB=-2110.01;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.6993T>C;refseq.codonCoord=2331;refseq.end=33867591;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7042;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2331N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-41;refseq.start=33867591;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr21 33870554 . G A 256.35 SnpCluster AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=87.75;MQ0=0;QD=8.55;SB=-109.49;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7235G>A;refseq.codonCoord=2412;refseq.end=33870554;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7284;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2412E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=14;refseq.start=33870554;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:21,9:25:-36.45,-7.53,-68.59:99 chr21 33870556 . G A 372.24 BadSOAPSNP;ESPStandard;Indel;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=25;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=86.10;MQ0=0;QD=12.01;RankSumP=1.00000;SB=14.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7237G>A;refseq.codonCoord=2413;refseq.end=33870556;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7286;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2413T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=16;refseq.start=33870556;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/1 chr21 33870557 . C G 393.10 BadSOAPSNP;ESPStandard;Indel;SnpCluster AC=2;AF=1.00;AN=2;BestBaseQ=25;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=85.78;MQ0=0;QD=12.28;RankSumP=1.00000;SB=14.08;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7238C>G;refseq.codonCoord=2413;refseq.end=33870557;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=7287;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2413G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=17;refseq.start=33870557;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/1 chr21 33870560 . T C 82.30 ESPStandard;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=82.53;MQ0=0;QD=2.65;SB=14.08;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7241T>C;refseq.codonCoord=2414;refseq.end=33870560;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7290;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.L2414P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=20;refseq.start=33870560;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:24,7:28:-19.95,-8.43,-97.07:99 chr21 33870566 . G A 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=26;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7247G>A;refseq.codonCoord=2416;refseq.end=33870566;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7296;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2416K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=26;refseq.start=33870566;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/1 chr21 33870567 . A G 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=29;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.7248A>G;refseq.codonCoord=2416;refseq.end=33870567;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7297;refseq.name=NM_138927;refseq.name2=SON;refseq.positionType=CDS;refseq.proteinCoordStr=p.R2416R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=27;refseq.start=33870567;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT 1/1 chr21 34159478 . T C 158.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1150.90;QD=31.97;RankSumP=1.00000;SB=-263.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.4044T>C;refseq.codonCoord=1348;refseq.end=34159478;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4312;refseq.name=NM_003024;refseq.name2=ITSN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1348D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-31;refseq.start=34159478;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr21 34182351 . T C 434.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.81;MQ0=0;OQ=5840.60;QD=38.42;RankSumP=1.00000;SB=-2487.29;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.5043T>C;refseq.codonCoord=1681;refseq.end=34182351;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5311;refseq.name=NM_003024;refseq.name2=ITSN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1681R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=26;refseq.start=34182351;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr21 34203263 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=208;Dels=0.00;HRun=1;HaplotypeScore=11.00;MQ=98.42;MQ0=0;OQ=4304.25;QD=20.69;RankSumP=0.0873433;SB=-1413.54;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.321T>C;refseq.codonCoord=107;refseq.end=34203263;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=412;refseq.name=NM_001697;refseq.name2=ATP5O;refseq.positionType=CDS;refseq.proteinCoordStr=p.N107N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-8;refseq.spliceInfo=splice-donor_-8;refseq.start=34203263;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr21 34389515 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=404;Dels=0.00;HRun=0;HaplotypeScore=27.27;MQ=98.06;MQ0=0;OQ=12538.70;QD=31.04;RankSumP=1.00000;SB=-2600.12;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.148A>G;refseq.codonCoord_2=50;refseq.end_1=34419500;refseq.end_2=34389515;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=660;refseq.name2_1=MRPS6;refseq.name2_2=SLC5A3;refseq.name_1=NM_032476;refseq.name_2=NM_006933;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T50A;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=484;refseq.start_1=34367926;refseq.start_2=34389515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr21 34391063 . C A 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.83;MQ0=0;OQ=2577.62;QD=38.47;RankSumP=1.00000;SB=-1093.64;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.1696C>A;refseq.codonCoord_2=566;refseq.end_1=34419500;refseq.end_2=34391063;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2208;refseq.name2_1=MRPS6;refseq.name2_2=SLC5A3;refseq.name_1=NM_032476;refseq.name_2=NM_006933;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q566K;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAA;refseq.spliceDist_2=2032;refseq.start_1=34367926;refseq.start_2=34391063;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chr21 34743691 . T C 100.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=178;Dels=0.00;HRun=1;HaplotypeScore=6.13;MQ=98.49;MQ0=0;OQ=5934.91;QD=33.34;RankSumP=1.00000;SB=-2067.84;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.112A>G;refseq.codingCoordStr_2=c.112A>G;refseq.codingCoordStr_3=c.112A>G;refseq.codingCoordStr_4=c.112A>G;refseq.codonCoord_1=38;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.end_1=34743691;refseq.end_2=34743691;refseq.end_3=34743691;refseq.end_4=34743691;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=349;refseq.mrnaCoord_3=321;refseq.mrnaCoord_4=542;refseq.name2_1=KCNE1;refseq.name2_2=KCNE1;refseq.name2_3=KCNE1;refseq.name2_4=KCNE1;refseq.name_1=NM_000219;refseq.name_2=NM_001127668;refseq.name_3=NM_001127669;refseq.name_4=NM_001127670;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S38G;refseq.proteinCoordStr_2=p.S38G;refseq.proteinCoordStr_3=p.S38G;refseq.proteinCoordStr_4=p.S38G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=162;refseq.spliceDist_2=162;refseq.spliceDist_3=162;refseq.spliceDist_4=162;refseq.start_1=34743691;refseq.start_2=34743691;refseq.start_3=34743691;refseq.start_4=34743691;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=Intersection GT 1/1 chr21 34963848 . A G 3 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=2;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=50.56;QD=25.28;RankSumP=1.00000;SB=-49.69;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.291A>G;refseq.codonCoord=97;refseq.end=34963848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=291;refseq.name=NM_053277;refseq.name2=CLIC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q97Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=291;refseq.start=34963848;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr21 34964073 . G C 46.26 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=88.25;MQ0=0;QD=23.13;RankSumP=0.00000;SB=-42.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.516G>C;refseq.codonCoord=172;refseq.end=34964073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_053277;refseq.name2=CLIC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A172A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=516;refseq.start=34964073;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr21 35002160 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=241;Dels=0.00;HRun=3;HaplotypeScore=3.89;MQ=98.92;MQ0=0;OQ=4331.73;QD=17.97;RankSumP=0.0961159;SB=-1492.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1533C>T;refseq.codonCoord=511;refseq.end=35002160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1533;refseq.name=NM_053277;refseq.name2=CLIC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F511F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=49;refseq.start=35002160;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr21 36429371 . G A 15.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=149.48;QD=24.91;RankSumP=0.416667;SB=-6.99;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.11G>A;refseq.codonCoord=4;refseq.end=36429371;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=239;refseq.name=NM_001236;refseq.name2=CBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C4Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=239;refseq.start=36429371;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=filterInsoap-gatk GT 1/0 chr21 36429615 . C T 152.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.06;MQ0=0;OQ=1121.84;QD=15.16;RankSumP=0.199460;SB=-327.81;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.255C>T;refseq.codonCoord=85;refseq.end=36429615;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=483;refseq.name=NM_001236;refseq.name2=CBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.N85N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-35;refseq.start=36429615;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr21 36429639 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=98.61;MQ0=0;OQ=666.38;QD=12.57;RankSumP=0.536170;SB=-225.23;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.279C>T;refseq.codonCoord=93;refseq.end=36429639;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=507;refseq.name=NM_001236;refseq.name2=CBR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V93V;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-11;refseq.start=36429639;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr21 36531441 . T C 178.31 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=12.24;MQ=98.61;MQ0=0;OQ=12695.16;QD=34.69;RankSumP=1.00000;SB=-6343.06;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2634T>C;refseq.codonCoord=878;refseq.end=36531441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2713;refseq.name=NM_005128;refseq.name2=DOPEY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R878R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=12;refseq.start=36531441;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr21 36539306 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3158A>C;refseq.codonCoord=1053;refseq.end=36539306;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3237;refseq.name=NM_005128;refseq.name2=DOPEY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1053P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=91;refseq.start=36539306;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr21 36539500 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=314;Dels=0.00;HRun=1;HaplotypeScore=14.55;MQ=98.61;MQ0=0;OQ=5401.38;QD=17.20;RankSumP=0.419253;SB=-1797.09;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3352T>G;refseq.codonCoord=1118;refseq.end=36539500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3431;refseq.name=NM_005128;refseq.name2=DOPEY2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1118G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=285;refseq.start=36539500;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr21 36663799 . T C 154.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=8.13;MQ=98.78;MQ0=0;OQ=7671.69;QD=23.75;RankSumP=0.461379;SB=-3032.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2263T>C;refseq.codonCoord=755;refseq.end=36663799;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2339;refseq.name=NM_015358;refseq.name2=MORC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L755L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=-246;refseq.start=36663799;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr21 36688774 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.437C>T;refseq.codonCoord=146;refseq.end=36688774;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=575;refseq.name=NM_005441;refseq.name2=CHAF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S146F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-45;refseq.start=36688774;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr21 36755177 . C T 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=98.09;MQ0=0;OQ=257.24;QD=10.29;RankSumP=0.599252;SB=-111.92;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.codingCoordStr_1=c.687G>A;refseq.codingCoordStr_2=c.687G>A;refseq.codingCoordStr_3=c.687G>A;refseq.codingCoordStr_4=c.687G>A;refseq.codingCoordStr_5=c.687G>A;refseq.codonCoord_1=229;refseq.codonCoord_2=229;refseq.codonCoord_3=229;refseq.codonCoord_4=229;refseq.codonCoord_5=229;refseq.end_1=36755177;refseq.end_2=36755177;refseq.end_3=36755177;refseq.end_4=36755177;refseq.end_5=36755177;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=942;refseq.mrnaCoord_3=1364;refseq.mrnaCoord_4=829;refseq.mrnaCoord_5=1554;refseq.name2_1=CLDN14;refseq.name2_2=CLDN14;refseq.name2_3=CLDN14;refseq.name2_4=CLDN14;refseq.name2_5=CLDN14;refseq.name_1=NM_001146077;refseq.name_2=NM_001146078;refseq.name_3=NM_001146079;refseq.name_4=NM_012130;refseq.name_5=NM_144492;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T229T;refseq.proteinCoordStr_2=p.T229T;refseq.proteinCoordStr_3=p.T229T;refseq.proteinCoordStr_4=p.T229T;refseq.proteinCoordStr_5=p.T229T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=-387;refseq.spliceDist_2=-387;refseq.spliceDist_3=-387;refseq.spliceDist_4=-388;refseq.spliceDist_5=-387;refseq.start_1=36755177;refseq.start_2=36755177;refseq.start_3=36755177;refseq.start_4=36755177;refseq.start_5=36755177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 0/1 chr21 36755621 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.46;MQ0=0;OQ=620.73;QD=13.21;RankSumP=0.743661;SB=-190.14;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.codingCoordStr_1=c.243C>T;refseq.codingCoordStr_2=c.243C>T;refseq.codingCoordStr_3=c.243C>T;refseq.codingCoordStr_4=c.243C>T;refseq.codingCoordStr_5=c.243C>T;refseq.codonCoord_1=81;refseq.codonCoord_2=81;refseq.codonCoord_3=81;refseq.codonCoord_4=81;refseq.codonCoord_5=81;refseq.end_1=36755621;refseq.end_2=36755621;refseq.end_3=36755621;refseq.end_4=36755621;refseq.end_5=36755621;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=621;refseq.mrnaCoord_2=498;refseq.mrnaCoord_3=920;refseq.mrnaCoord_4=385;refseq.mrnaCoord_5=1110;refseq.name2_1=CLDN14;refseq.name2_2=CLDN14;refseq.name2_3=CLDN14;refseq.name2_4=CLDN14;refseq.name2_5=CLDN14;refseq.name_1=NM_001146077;refseq.name_2=NM_001146078;refseq.name_3=NM_001146079;refseq.name_4=NM_012130;refseq.name_5=NM_144492;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.R81R;refseq.proteinCoordStr_2=p.R81R;refseq.proteinCoordStr_3=p.R81R;refseq.proteinCoordStr_4=p.R81R;refseq.proteinCoordStr_5=p.R81R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.spliceDist_1=324;refseq.spliceDist_2=324;refseq.spliceDist_3=324;refseq.spliceDist_4=324;refseq.spliceDist_5=324;refseq.start_1=36755621;refseq.start_2=36755621;refseq.start_3=36755621;refseq.start_4=36755621;refseq.start_5=36755621;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;refseq.variantCodon_5=CGT;set=Intersection GT 1/0 chr21 37013993 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.350T>G;refseq.codingCoordStr_2=c.350T>G;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.end_1=37013993;refseq.end_2=37013993;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=406;refseq.mrnaCoord_2=406;refseq.name2_1=SIM2;refseq.name2_2=SIM2;refseq.name_1=NM_005069;refseq.name_2=NM_009586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V117G;refseq.proteinCoordStr_2=p.V117G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=37013993;refseq.start_2=37013993;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr21 37014071 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.428A>C;refseq.codingCoordStr_2=c.428A>C;refseq.codonCoord_1=143;refseq.codonCoord_2=143;refseq.end_1=37014071;refseq.end_2=37014071;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=484;refseq.mrnaCoord_2=484;refseq.name2_1=SIM2;refseq.name2_2=SIM2;refseq.name_1=NM_005069;refseq.name_2=NM_009586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H143P;refseq.proteinCoordStr_2=p.H143P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=37014071;refseq.start_2=37014071;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr21 37035984 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.000105320;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.947A>C;refseq.codingCoordStr_2=c.947A>C;refseq.codonCoord_1=316;refseq.codonCoord_2=316;refseq.end_1=37035984;refseq.end_2=37035984;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=1003;refseq.name2_1=SIM2;refseq.name2_2=SIM2;refseq.name_1=NM_005069;refseq.name_2=NM_009586;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N316T;refseq.proteinCoordStr_2=p.N316T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=37035984;refseq.start_2=37035984;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr21 37230781 . G A 358.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=98.77;MQ0=0;OQ=5270.08;QD=19.59;RankSumP=0.0376153;SB=-2122.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.834C>T;refseq.codonCoord=278;refseq.end=37230781;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_000411;refseq.name2=HLCS;refseq.positionType=CDS;refseq.proteinCoordStr=p.S278S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-163;refseq.start=37230781;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr21 37366733 . C T 449.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.96;MQ0=0;OQ=4835.01;QD=38.99;RankSumP=1.00000;SB=-2200.38;SecondBestBaseQ=2;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_3=c.25G>A;refseq.codonCoord_3=9;refseq.end_1=37367159;refseq.end_2=37367159;refseq.end_3=37366733;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=241;refseq.name2_1=PIGP;refseq.name2_2=PIGP;refseq.name2_3=PIGP;refseq.name_1=NM_153682;refseq.name_2=NR_028352;refseq.name_3=NM_153681;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.A9T;refseq.referenceAA_3=Ala;refseq.referenceCodon_3=GCG;refseq.spliceDist_3=-130;refseq.start_1=37366718;refseq.start_2=37366718;refseq.start_3=37366733;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Thr;refseq.variantCodon_3=ACG;set=Intersection GT 1/1 chr21 37366751 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=102;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=96.83;MQ0=0;OQ=1417.51;QD=13.90;RankSumP=0.378188;SB=-655.06;SecondBestBaseQ=28;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_3=c.7C>T;refseq.codonCoord_3=3;refseq.end_1=37367159;refseq.end_2=37367159;refseq.end_3=37366751;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=223;refseq.name2_1=PIGP;refseq.name2_2=PIGP;refseq.name2_3=PIGP;refseq.name_1=NM_153682;refseq.name_2=NR_028352;refseq.name_3=NM_153681;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.P3S;refseq.referenceAA_3=Pro;refseq.referenceCodon_3=CCA;refseq.spliceDist_3=-148;refseq.start_1=37366718;refseq.start_2=37366718;refseq.start_3=37366751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_3=Ser;refseq.variantCodon_3=TCA;set=Intersection GT 1/0 chr21 37381463 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=694;Dels=0.00;HRun=0;HaplotypeScore=14.69;MQ=98.48;MQ0=0;OQ=14177.47;QD=20.43;RankSumP=0.00122295;SB=-5373.36;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.36G>A;refseq.codingCoordStr_2=c.36G>A;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=37381463;refseq.end_2=37381463;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=141;refseq.mrnaCoord_2=1432;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A12A;refseq.proteinCoordStr_2=p.A12A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=37381463;refseq.start_2=37381463;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=filterInsoap-gatk GT 1/0 chr21 37420251 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1235T>G;refseq.codingCoordStr_2=c.1235T>G;refseq.codonCoord_1=412;refseq.codonCoord_2=412;refseq.end_1=37420251;refseq.end_2=37420251;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1340;refseq.mrnaCoord_2=2631;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V412G;refseq.proteinCoordStr_2=p.V412G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=37420251;refseq.start_2=37420251;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr21 37434826 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.33;MQ0=0;OQ=1224.15;QD=18.27;RankSumP=0.352337;SB=-203.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1755A>G;refseq.codingCoordStr_2=c.1755A>G;refseq.codonCoord_1=585;refseq.codonCoord_2=585;refseq.end_1=37434826;refseq.end_2=37434826;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1860;refseq.mrnaCoord_2=3151;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V585V;refseq.proteinCoordStr_2=p.V585V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=37434826;refseq.start_2=37434826;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chr21 37447226 . T C 143.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=87.35;MQ0=0;OQ=2073.59;QD=13.29;RankSumP=0.276348;SB=-635.77;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2519T>C;refseq.codingCoordStr_2=c.2519T>C;refseq.codonCoord_1=840;refseq.codonCoord_2=840;refseq.end_1=37447226;refseq.end_2=37447226;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2624;refseq.mrnaCoord_2=3915;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M840T;refseq.proteinCoordStr_2=p.M840T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=106;refseq.spliceDist_2=106;refseq.start_1=37447226;refseq.start_2=37447226;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/0 chr21 37447269 . A G 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.455346;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2562A>G;refseq.codingCoordStr_2=c.2562A>G;refseq.codonCoord_1=854;refseq.codonCoord_2=854;refseq.end_1=37447269;refseq.end_2=37447269;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2667;refseq.mrnaCoord_2=3958;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E854E;refseq.proteinCoordStr_2=p.E854E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.start_1=37447269;refseq.start_2=37447269;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 0/1 chr21 37447290 . T A 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0946542;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2583T>A;refseq.codingCoordStr_2=c.2583T>A;refseq.codonCoord_1=861;refseq.codonCoord_2=861;refseq.end_1=37447290;refseq.end_2=37447290;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2688;refseq.mrnaCoord_2=3979;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S861S;refseq.proteinCoordStr_2=p.S861S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-158;refseq.spliceDist_2=-158;refseq.start_1=37447290;refseq.start_2=37447290;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=soap GT 1/0 chr21 37482667 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.4925T>G;refseq.codingCoordStr_2=c.4925T>G;refseq.codonCoord_1=1642;refseq.codonCoord_2=1642;refseq.end_1=37482667;refseq.end_2=37482667;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5030;refseq.mrnaCoord_2=6321;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V1642G;refseq.proteinCoordStr_2=p.V1642G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=37482667;refseq.start_2=37482667;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr21 37489879 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=2441.66;QD=20.01;RankSumP=0.308780;SB=-333.17;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.5251G>C;refseq.codingCoordStr_2=c.5251G>C;refseq.codonCoord_1=1751;refseq.codonCoord_2=1751;refseq.end_1=37489879;refseq.end_2=37489879;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5356;refseq.mrnaCoord_2=6647;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1751H;refseq.proteinCoordStr_2=p.D1751H;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.start_1=37489879;refseq.start_2=37489879;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chr21 37490178 . C T 158.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.50;MQ0=0;OQ=2067.27;QD=13.51;RankSumP=0.363094;SB=-926.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.5550C>T;refseq.codingCoordStr_2=c.5550C>T;refseq.codonCoord_1=1850;refseq.codonCoord_2=1850;refseq.end_1=37490178;refseq.end_2=37490178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5655;refseq.mrnaCoord_2=6946;refseq.name2_1=TTC3;refseq.name2_2=TTC3;refseq.name_1=NM_001001894;refseq.name_2=NM_003316;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1850H;refseq.proteinCoordStr_2=p.H1850H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=37490178;refseq.start_2=37490178;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr21 37800429 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_5=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.codingCoordStr_5=c.1704A>C;refseq.codonCoord_5=568;refseq.end_1=37800433;refseq.end_2=37806073;refseq.end_3=37806073;refseq.end_4=37806073;refseq.end_5=37800429;refseq.frame_5=2;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=*;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.inCodingRegion_5=true;refseq.mrnaCoord_5=1953;refseq.name2_1=DYRK1A;refseq.name2_2=DYRK1A;refseq.name2_3=DYRK1A;refseq.name2_4=DYRK1A;refseq.name2_5=DYRK1A;refseq.name_1=NM_130437;refseq.name_2=NM_130438;refseq.name_3=NM_001396;refseq.name_4=NM_130436;refseq.name_5=NM_101395;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.positionType_5=CDS;refseq.proteinCoordStr_5=p.S568S;refseq.referenceAA_5=Ser;refseq.referenceCodon_5=TCA;refseq.spliceDist_5=-99;refseq.start_1=37799772;refseq.start_2=37799773;refseq.start_3=37800407;refseq.start_4=37800407;refseq.start_5=37800429;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_5=Ser;refseq.variantCodon_5=TCC;set=FilteredInAll GT 0/1 chr21 37919571 . G A 282.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=5.48;MQ=98.83;MQ0=0;OQ=14052.43;QD=41.21;RankSumP=1.00000;SB=-6815.47;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1032C>T;refseq.codonCoord=344;refseq.end=37919571;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1569;refseq.name=NM_002240;refseq.name2=KCNJ6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D344D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=86;refseq.start=37919571;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr21 38008835 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=219;Dels=0.00;HRun=1;HaplotypeScore=23.78;MQ=98.32;MQ0=0;OQ=1824.96;QD=8.33;RankSumP=0.386759;SB=-410.77;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.495A>G;refseq.codonCoord=165;refseq.end=38008835;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1032;refseq.name=NM_002240;refseq.name2=KCNJ6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P165P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-452;refseq.start=38008835;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chr21 38008859 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.471C>A;refseq.codonCoord=157;refseq.end=38008859;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_002240;refseq.name2=KCNJ6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y157*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=446;refseq.start=38008859;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr21 38593346 . G A 225.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=464;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=98.75;MQ0=0;OQ=19527.22;QD=42.08;RankSumP=1.00000;SB=-8295.40;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.293G>A;refseq.codingCoordStr_2=c.293G>A;refseq.codingCoordStr_3=c.293G>A;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.codonCoord_3=98;refseq.end_1=38593346;refseq.end_2=38593346;refseq.end_3=38593346;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=595;refseq.mrnaCoord_2=647;refseq.mrnaCoord_3=460;refseq.name2_1=KCNJ15;refseq.name2_2=KCNJ15;refseq.name2_3=KCNJ15;refseq.name_1=NM_002243;refseq.name_2=NM_170736;refseq.name_3=NM_170737;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G98D;refseq.proteinCoordStr_2=p.G98D;refseq.proteinCoordStr_3=p.G98D;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=311;refseq.spliceDist_2=311;refseq.spliceDist_3=311;refseq.start_1=38593346;refseq.start_2=38593346;refseq.start_3=38593346;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 1/1 chr21 38697459 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.452A>G;refseq.codingCoordStr_2=c.155A>G;refseq.codingCoordStr_3=c.452A>G;refseq.codingCoordStr_4=c.431A>G;refseq.codonCoord_1=151;refseq.codonCoord_2=52;refseq.codonCoord_3=151;refseq.codonCoord_4=144;refseq.end_1=38697459;refseq.end_2=38697459;refseq.end_3=38697459;refseq.end_4=38697459;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=337;refseq.mrnaCoord_3=724;refseq.mrnaCoord_4=555;refseq.name2_1=ERG;refseq.name2_2=ERG;refseq.name2_3=ERG;refseq.name2_4=ERG;refseq.name_1=NM_001136154;refseq.name_2=NM_001136155;refseq.name_3=NM_004449;refseq.name_4=NM_182918;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E151G;refseq.proteinCoordStr_2=p.E52G;refseq.proteinCoordStr_3=p.E151G;refseq.proteinCoordStr_4=p.E144G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.spliceDist_3=43;refseq.spliceDist_4=43;refseq.start_1=38697459;refseq.start_2=38697459;refseq.start_3=38697459;refseq.start_4=38697459;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chr21 39113301 . T G 248.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=98.33;MQ0=0;OQ=11022.78;QD=35.33;RankSumP=1.00000;SB=-4841.47;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.816T>G;refseq.codonCoord=272;refseq.end=39113301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1012;refseq.name=NM_005239;refseq.name2=ETS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T272T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=39113301;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr21 39113375 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.890A>C;refseq.codonCoord=297;refseq.end=39113375;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1086;refseq.name=NM_005239;refseq.name2=ETS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N297T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=79;refseq.start=39113375;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chr21 39113508 . A G 209.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.67;MQ0=0;OQ=1946.53;QD=35.39;RankSumP=1.00000;SB=-933.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1023A>G;refseq.codonCoord=341;refseq.end=39113508;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_005239;refseq.name2=ETS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P341P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-53;refseq.start=39113508;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr21 39473724 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.452A>G;refseq.codonCoord_2=151;refseq.end_1=39474070;refseq.end_2=39473724;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=581;refseq.name2_1=PSMG1;refseq.name2_2=PSMG1;refseq.name_1=NM_203433;refseq.name_2=NM_003720;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E151G;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.start_1=39472454;refseq.start_2=39473724;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chr21 39474177 . A G 109.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=372;Dels=0.00;HRun=1;HaplotypeScore=11.39;MQ=98.89;MQ0=0;OQ=7004.16;QD=18.83;RankSumP=0.350573;SB=-2750.26;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.297T>C;refseq.codingCoordStr_2=c.297T>C;refseq.codonCoord_1=99;refseq.codonCoord_2=99;refseq.end_1=39474177;refseq.end_2=39474177;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=426;refseq.mrnaCoord_2=426;refseq.name2_1=PSMG1;refseq.name2_2=PSMG1;refseq.name_1=NM_003720;refseq.name_2=NM_203433;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A99A;refseq.proteinCoordStr_2=p.A99A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=56;refseq.spliceDist_2=56;refseq.start_1=39474177;refseq.start_2=39474177;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 0/1 chr21 39493116 . A G 119.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=279;Dels=0.00;HRun=1;HaplotypeScore=9.78;MQ=98.94;MQ0=0;OQ=6503.44;QD=23.31;RankSumP=0.403015;SB=-2224.94;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.5096T>C;refseq.codingCoordStr_2=c.5096T>C;refseq.codonCoord_1=1699;refseq.codonCoord_2=1699;refseq.end_1=39493116;refseq.end_2=39493116;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5235;refseq.mrnaCoord_2=5235;refseq.name2_1=BRWD1;refseq.name2_2=BRWD1;refseq.name_1=NM_018963;refseq.name_2=NM_033656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1699P;refseq.proteinCoordStr_2=p.L1699P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.spliceDist_1=343;refseq.spliceDist_2=343;refseq.start_1=39493116;refseq.start_2=39493116;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr21 39496175 . A G 189.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=98.76;MQ0=0;OQ=2892.06;QD=17.63;RankSumP=0.252708;SB=-1057.93;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.4531T>C;refseq.codingCoordStr_2=c.4531T>C;refseq.codonCoord_1=1511;refseq.codonCoord_2=1511;refseq.end_1=39496175;refseq.end_2=39496175;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4670;refseq.mrnaCoord_2=4670;refseq.name2_1=BRWD1;refseq.name2_2=BRWD1;refseq.name_1=NM_018963;refseq.name_2=NM_033656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1511P;refseq.proteinCoordStr_2=p.S1511P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=39496175;refseq.start_2=39496175;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr21 39506468 . C T 227.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=240;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.43;MQ0=0;OQ=4435.48;QD=18.48;RankSumP=0.354096;SB=-1374.84;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3894G>A;refseq.codingCoordStr_2=c.3894G>A;refseq.codonCoord_1=1298;refseq.codonCoord_2=1298;refseq.end_1=39506468;refseq.end_2=39506468;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4033;refseq.mrnaCoord_2=4033;refseq.name2_1=BRWD1;refseq.name2_2=BRWD1;refseq.name_1=NM_018963;refseq.name_2=NM_033656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1298R;refseq.proteinCoordStr_2=p.R1298R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-7;refseq.spliceDist_2=-7;refseq.spliceInfo_1=splice-donor_-7;refseq.spliceInfo_2=splice-donor_-7;refseq.start_1=39506468;refseq.start_2=39506468;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chr21 39568182 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1232C>A;refseq.codingCoordStr_2=c.1232C>A;refseq.codonCoord_1=411;refseq.codonCoord_2=411;refseq.end_1=39568182;refseq.end_2=39568182;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1371;refseq.mrnaCoord_2=1371;refseq.name2_1=BRWD1;refseq.name2_2=BRWD1;refseq.name_1=NM_018963;refseq.name_2=NM_033656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T411N;refseq.proteinCoordStr_2=p.T411N;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=39568182;refseq.start_2=39568182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=FilteredInAll GT 0/1 chr21 39592330 . G C 99.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.67;MQ0=0;OQ=1459.37;QD=23.54;RankSumP=0.259823;SB=-603.29;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.247C>G;refseq.codingCoordStr_2=c.247C>G;refseq.codingCoordStr_3=c.247C>G;refseq.codonCoord_1=83;refseq.codonCoord_2=83;refseq.codonCoord_3=83;refseq.end_1=39592330;refseq.end_2=39592330;refseq.end_3=39592330;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=386;refseq.mrnaCoord_2=386;refseq.mrnaCoord_3=386;refseq.name2_1=BRWD1;refseq.name2_2=BRWD1;refseq.name2_3=BRWD1;refseq.name_1=NM_001007246;refseq.name_2=NM_018963;refseq.name_3=NM_033656;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q83E;refseq.proteinCoordStr_2=p.Q83E;refseq.proteinCoordStr_3=p.Q83E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.spliceDist_3=49;refseq.start_1=39592330;refseq.start_2=39592330;refseq.start_3=39592330;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 0/1 chr21 39699770 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1921A>C;refseq.codonCoord=641;refseq.end=39699770;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2234;refseq.name=NM_152505;refseq.name2=LCA5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T641P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-131;refseq.start=39699770;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr21 39745851 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=827;Dels=0.00;HRun=1;HaplotypeScore=31.61;MQ=98.74;MQ0=0;OQ=32121.75;QD=38.84;RankSumP=1.00000;SB=-12784.29;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.148G>A;refseq.codonCoord_2=50;refseq.end_1=39756160;refseq.end_2=39745851;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=202;refseq.name2_1=SH3BGR;refseq.name2_2=SH3BGR;refseq.name_1=NM_001001713;refseq.name_2=NM_007341;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D50N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-87;refseq.start_1=39739736;refseq.start_2=39745851;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chr21 39793680 . T C 419.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.17;MQ0=0;OQ=5356.63;QD=38.54;RankSumP=1.00000;SB=-2103.85;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.230T>C;refseq.codingCoordStr_2=c.563T>C;refseq.codonCoord_1=77;refseq.codonCoord_2=188;refseq.end_1=39793680;refseq.end_2=39793680;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=388;refseq.mrnaCoord_2=617;refseq.name2_1=SH3BGR;refseq.name2_2=SH3BGR;refseq.name_1=NM_001001713;refseq.name_2=NM_007341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V77A;refseq.proteinCoordStr_2=p.V188A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=39793680;refseq.start_2=39793680;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr21 39805541 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.404799;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.356G>A;refseq.codingCoordStr_2=c.689G>A;refseq.codonCoord_1=119;refseq.codonCoord_2=230;refseq.end_1=39805541;refseq.end_2=39805541;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=514;refseq.mrnaCoord_2=743;refseq.name2_1=SH3BGR;refseq.name2_2=SH3BGR;refseq.name_1=NM_001001713;refseq.name_2=NM_007341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G119E;refseq.proteinCoordStr_2=p.G230E;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=65;refseq.spliceDist_2=65;refseq.start_1=39805541;refseq.start_2=39805541;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr21 39805548 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.428571;SecondBestBaseQ=18;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.363G>A;refseq.codingCoordStr_2=c.696G>A;refseq.codonCoord_1=121;refseq.codonCoord_2=232;refseq.end_1=39805548;refseq.end_2=39805548;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=521;refseq.mrnaCoord_2=750;refseq.name2_1=SH3BGR;refseq.name2_2=SH3BGR;refseq.name_1=NM_001001713;refseq.name_2=NM_007341;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E121E;refseq.proteinCoordStr_2=p.E232E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=39805548;refseq.start_2=39805548;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr21 39954610 . T C 424.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=98.67;MQ0=0;OQ=4583.59;QD=36.09;RankSumP=1.00000;SB=-1814.37;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.codingCoordStr_1=c.254T>C;refseq.codingCoordStr_2=c.254T>C;refseq.codingCoordStr_3=c.254T>C;refseq.codingCoordStr_4=c.254T>C;refseq.codingCoordStr_5=c.254T>C;refseq.codonCoord_1=85;refseq.codonCoord_2=85;refseq.codonCoord_3=85;refseq.codonCoord_4=85;refseq.codonCoord_5=85;refseq.end_1=39954610;refseq.end_2=39954610;refseq.end_3=39954610;refseq.end_4=39954610;refseq.end_5=39954610;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=687;refseq.mrnaCoord_2=554;refseq.mrnaCoord_3=796;refseq.mrnaCoord_4=636;refseq.mrnaCoord_5=1334;refseq.name2_1=B3GALT5;refseq.name2_2=B3GALT5;refseq.name2_3=B3GALT5;refseq.name2_4=B3GALT5;refseq.name2_5=B3GALT5;refseq.name_1=NM_006057;refseq.name_2=NM_033170;refseq.name_3=NM_033171;refseq.name_4=NM_033172;refseq.name_5=NM_033173;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.M85T;refseq.proteinCoordStr_2=p.M85T;refseq.proteinCoordStr_3=p.M85T;refseq.proteinCoordStr_4=p.M85T;refseq.proteinCoordStr_5=p.M85T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.spliceDist_1=254;refseq.spliceDist_2=254;refseq.spliceDist_3=254;refseq.spliceDist_4=254;refseq.spliceDist_5=1061;refseq.start_1=39954610;refseq.start_2=39954610;refseq.start_3=39954610;refseq.start_4=39954610;refseq.start_5=39954610;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/1 chr21 39954674 . G A 93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=98.93;MQ0=0;OQ=6697.73;QD=42.39;RankSumP=1.00000;SB=-2041.58;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.codingCoordStr_1=c.318G>A;refseq.codingCoordStr_2=c.318G>A;refseq.codingCoordStr_3=c.318G>A;refseq.codingCoordStr_4=c.318G>A;refseq.codingCoordStr_5=c.318G>A;refseq.codonCoord_1=106;refseq.codonCoord_2=106;refseq.codonCoord_3=106;refseq.codonCoord_4=106;refseq.codonCoord_5=106;refseq.end_1=39954674;refseq.end_2=39954674;refseq.end_3=39954674;refseq.end_4=39954674;refseq.end_5=39954674;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=751;refseq.mrnaCoord_2=618;refseq.mrnaCoord_3=860;refseq.mrnaCoord_4=700;refseq.mrnaCoord_5=1398;refseq.name2_1=B3GALT5;refseq.name2_2=B3GALT5;refseq.name2_3=B3GALT5;refseq.name2_4=B3GALT5;refseq.name2_5=B3GALT5;refseq.name_1=NM_006057;refseq.name_2=NM_033170;refseq.name_3=NM_033171;refseq.name_4=NM_033172;refseq.name_5=NM_033173;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T106T;refseq.proteinCoordStr_2=p.T106T;refseq.proteinCoordStr_3=p.T106T;refseq.proteinCoordStr_4=p.T106T;refseq.proteinCoordStr_5=p.T106T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.spliceDist_1=318;refseq.spliceDist_2=318;refseq.spliceDist_3=318;refseq.spliceDist_4=318;refseq.spliceDist_5=1125;refseq.start_1=39954674;refseq.start_2=39954674;refseq.start_3=39954674;refseq.start_4=39954674;refseq.start_5=39954674;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;set=Intersection GT 1/1 chr21 40059373 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=221;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.86;MQ0=0;OQ=2997.58;QD=13.56;RankSumP=0.181648;SB=-1304.21;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.142G>A;refseq.codonCoord=48;refseq.end=40059373;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=245;refseq.name=NM_001080444;refseq.name2=IGSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A48T;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=42;refseq.start=40059373;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr21 40059377 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=12.62;MQ=98.83;MQ0=0;OQ=6035.48;QD=26.47;RankSumP=0.376904;SB=-2442.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.146G>C;refseq.codonCoord=49;refseq.end=40059377;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=249;refseq.name=NM_001080444;refseq.name2=IGSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R49T;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=46;refseq.start=40059377;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr21 40064810 . G A 208.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=98.76;MQ0=0;OQ=2651.46;QD=16.27;RankSumP=0.368668;SB=-1147.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.516G>A;refseq.codonCoord=172;refseq.end=40064810;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_001080444;refseq.name2=IGSF5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P172P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=98;refseq.start=40064810;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/0 chr21 40336466 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=1.70789e-06;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.5388A>C;refseq.codonCoord=1796;refseq.end=40336466;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5840;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1796R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=40336466;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 1/0 chr21 40349637 . A G 99.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=491;Dels=0.00;HRun=0;HaplotypeScore=10.57;MQ=98.87;MQ0=0;OQ=9606.66;QD=19.57;RankSumP=0.277443;SB=-2198.50;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.4920T>C;refseq.codonCoord=1640;refseq.end=40349637;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5372;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1640S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=40349637;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr21 40372697 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.4498A>G;refseq.codonCoord=1500;refseq.end=40372697;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4950;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1500D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=78;refseq.start=40372697;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr21 40436475 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3286C>A;refseq.codonCoord=1096;refseq.end=40436475;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3738;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1096K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=27;refseq.start=40436475;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chr21 40436492 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=7;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3269A>C;refseq.codonCoord=1090;refseq.end=40436492;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3721;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y1090S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=40436492;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr21 40569961 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=157;Dels=0.00;HRun=1;HaplotypeScore=56.41;MQ=98.11;MQ0=0;OQ=151.27;QD=0.96;RankSumP=0.00000;SB=248.83;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2289C>A;refseq.codonCoord=763;refseq.end=40569961;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2741;refseq.name=NM_001389;refseq.name2=DSCAM;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y763*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-68;refseq.start=40569961;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr21 41544656 . C T 259.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=98.95;MQ0=0;OQ=2988.38;QD=15.02;RankSumP=0.395750;SB=-954.33;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.1092C>T;refseq.codingCoordStr_3=c.1092C>T;refseq.codonCoord_2=364;refseq.codonCoord_3=364;refseq.end_1=41550944;refseq.end_2=41544656;refseq.end_3=41544656;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1555;refseq.mrnaCoord_3=1555;refseq.name2_1=BACE2;refseq.name2_2=BACE2;refseq.name2_3=BACE2;refseq.name_1=NM_138991;refseq.name_2=NM_012105;refseq.name_3=NM_138992;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.D364D;refseq.proteinCoordStr_3=p.D364D;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.start_1=41539871;refseq.start_2=41544656;refseq.start_3=41544656;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;set=Intersection GT 0/1 chr21 41639532 . T C 386.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.72;MQ0=0;OQ=2406.49;QD=38.20;RankSumP=1.00000;SB=-930.04;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.396T>C;refseq.codingCoordStr_2=c.252T>C;refseq.codonCoord_1=132;refseq.codonCoord_2=84;refseq.end_1=41639532;refseq.end_2=41639532;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=542;refseq.mrnaCoord_2=398;refseq.name2_1=FAM3B;refseq.name2_2=FAM3B;refseq.name_1=NM_058186;refseq.name_2=NM_206964;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G132G;refseq.proteinCoordStr_2=p.G84G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=41639532;refseq.start_2=41639532;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=Intersection GT 1/1 chr21 41733614 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.560T>G;refseq.codingCoordStr_2=c.560T>G;refseq.codonCoord_1=187;refseq.codonCoord_2=187;refseq.end_1=41733614;refseq.end_2=41733614;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1507;refseq.mrnaCoord_2=1081;refseq.name2_1=MX1;refseq.name2_2=MX1;refseq.name_1=NM_001144925;refseq.name_2=NM_002462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V187G;refseq.proteinCoordStr_2=p.V187G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.start_1=41733614;refseq.start_2=41733614;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr21 41734761 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.98;MQ0=0;OQ=2073.86;QD=18.35;RankSumP=0.362601;SB=-451.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.669C>T;refseq.codingCoordStr_2=c.669C>T;refseq.codonCoord_1=223;refseq.codonCoord_2=223;refseq.end_1=41734761;refseq.end_2=41734761;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1616;refseq.mrnaCoord_2=1190;refseq.name2_1=MX1;refseq.name2_2=MX1;refseq.name_1=NM_001144925;refseq.name_2=NM_002462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I223I;refseq.proteinCoordStr_2=p.I223I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=41734761;refseq.start_2=41734761;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 0/1 chr21 41739800 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=283;Dels=0.00;HRun=3;HaplotypeScore=7.75;MQ=98.82;MQ0=0;OQ=5408.10;QD=19.11;RankSumP=0.467362;SB=-1253.04;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1135G>A;refseq.codingCoordStr_2=c.1135G>A;refseq.codonCoord_1=379;refseq.codonCoord_2=379;refseq.end_1=41739800;refseq.end_2=41739800;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2082;refseq.mrnaCoord_2=1656;refseq.name2_1=MX1;refseq.name2_2=MX1;refseq.name_1=NM_001144925;refseq.name_2=NM_002462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V379I;refseq.proteinCoordStr_2=p.V379I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.start_1=41739800;refseq.start_2=41739800;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chr21 41742983 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=98.78;MQ0=0;OQ=1440.95;QD=12.01;RankSumP=0.464745;SB=-279.40;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1323T>C;refseq.codingCoordStr_2=c.1323T>C;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.end_1=41742983;refseq.end_2=41742983;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2270;refseq.mrnaCoord_2=1844;refseq.name2_1=MX1;refseq.name2_2=MX1;refseq.name_1=NM_001144925;refseq.name_2=NM_002462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R441R;refseq.proteinCoordStr_2=p.R441R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.start_1=41742983;refseq.start_2=41742983;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/0 chr21 41746603 . G A 84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=173.77;QD=8.69;RankSumP=0.617439;SB=-71.03;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1695G>A;refseq.codingCoordStr_2=c.1695G>A;refseq.codonCoord_1=565;refseq.codonCoord_2=565;refseq.end_1=41746603;refseq.end_2=41746603;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2642;refseq.mrnaCoord_2=2216;refseq.name2_1=MX1;refseq.name2_2=MX1;refseq.name_1=NM_001144925;refseq.name_2=NM_002462;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q565Q;refseq.proteinCoordStr_2=p.Q565Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-64;refseq.spliceDist_2=-64;refseq.start_1=41746603;refseq.start_2=41746603;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr21 41762244 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1374A>C;refseq.codingCoordStr_2=c.1263A>C;refseq.codonCoord_1=458;refseq.codonCoord_2=421;refseq.end_1=41762244;refseq.end_2=41762244;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1435;refseq.mrnaCoord_2=1397;refseq.name2_1=TMPRSS2;refseq.name2_2=TMPRSS2;refseq.name_1=NM_001135099;refseq.name_2=NM_005656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T458T;refseq.proteinCoordStr_2=p.T421T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=41762244;refseq.start_2=41762244;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr21 41767253 . A G 101.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.59;MQ0=0;OQ=800.50;QD=16.34;RankSumP=0.478878;SB=-150.66;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.879T>C;refseq.codingCoordStr_2=c.768T>C;refseq.codonCoord_1=293;refseq.codonCoord_2=256;refseq.end_1=41767253;refseq.end_2=41767253;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=940;refseq.mrnaCoord_2=902;refseq.name2_1=TMPRSS2;refseq.name2_2=TMPRSS2;refseq.name_1=NM_001135099;refseq.name_2=NM_005656;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I293I;refseq.proteinCoordStr_2=p.I256I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=41767253;refseq.start_2=41767253;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr21 42034426 . T C 184.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.85;MQ0=0;OQ=2316.30;QD=30.48;RankSumP=1.00000;SB=-1016.72;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1996A>G;refseq.codonCoord=666;refseq.end=42034426;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2044;refseq.name=NM_020639;refseq.name2=RIPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.M666V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=801;refseq.start=42034426;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chr21 42034874 . G A 451.29 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.78;MQ0=0;OQ=4884.67;QD=39.71;RankSumP=1.00000;SB=-2391.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1548C>T;refseq.codonCoord=516;refseq.end=42034874;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1596;refseq.name=NM_020639;refseq.name2=RIPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.D516D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=353;refseq.start=42034874;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr21 42042426 . C G 264.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=6.20;MQ=98.74;MQ0=0;OQ=7464.65;QD=19.49;RankSumP=0.171000;SB=-2087.84;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.630G>C;refseq.codonCoord=210;refseq.end=42042426;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=678;refseq.name=NM_020639;refseq.name2=RIPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A210A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=42042426;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr21 42049868 . T G 156.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=14.39;MQ=98.30;MQ0=0;OQ=4070.92;QD=14.64;RankSumP=0.381667;SB=-766.46;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.360A>C;refseq.codonCoord=120;refseq.end=42049868;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_020639;refseq.name2=RIPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R120R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-115;refseq.start=42049868;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr21 42049901 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=373;Dels=0.00;HRun=1;HaplotypeScore=14.13;MQ=98.63;MQ0=0;OQ=6145.26;QD=16.48;RankSumP=0.245324;SB=-2158.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.327T>C;refseq.codonCoord=109;refseq.end=42049901;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=375;refseq.name=NM_020639;refseq.name2=RIPK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A109A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=145;refseq.start=42049901;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr21 42094552 . A G 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=47;Dels=0.00;HRun=3;HaplotypeScore=13.09;MQ=95.25;MQ0=0;OQ=1253.67;QD=26.67;RankSumP=1.00000;SB=-636.25;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3454T>C;refseq.codingCoordStr_2=c.4441T>C;refseq.codonCoord_1=1152;refseq.codonCoord_2=1481;refseq.end_1=42094552;refseq.end_2=42094552;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3556;refseq.mrnaCoord_2=4552;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1152P;refseq.proteinCoordStr_2=p.S1481P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=400;refseq.spliceDist_2=-159;refseq.start_1=42094552;refseq.start_2=42094552;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr21 42094624 . G A 105.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=98.24;MQ0=0;OQ=2038.08;QD=20.80;RankSumP=0.353975;SB=-651.16;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3382C>T;refseq.codingCoordStr_2=c.4369C>T;refseq.codonCoord_1=1128;refseq.codonCoord_2=1457;refseq.end_1=42094624;refseq.end_2=42094624;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3484;refseq.mrnaCoord_2=4480;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1128L;refseq.proteinCoordStr_2=p.L1457L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=328;refseq.spliceDist_2=-231;refseq.start_1=42094624;refseq.start_2=42094624;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/0 chr21 42094704 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=5;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3302A>C;refseq.codingCoordStr_2=c.4289A>C;refseq.codonCoord_1=1101;refseq.codonCoord_2=1430;refseq.end_1=42094704;refseq.end_2=42094704;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3404;refseq.mrnaCoord_2=4400;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H1101P;refseq.proteinCoordStr_2=p.H1430P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=248;refseq.spliceDist_2=248;refseq.start_1=42094704;refseq.start_2=42094704;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr21 42094895 . T C 267.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=98.80;MQ0=0;OQ=8613.77;QD=35.45;RankSumP=1.00000;SB=-3814.54;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3111A>G;refseq.codingCoordStr_2=c.4098A>G;refseq.codonCoord_1=1037;refseq.codonCoord_2=1366;refseq.end_1=42094895;refseq.end_2=42094895;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3213;refseq.mrnaCoord_2=4209;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1037L;refseq.proteinCoordStr_2=p.L1366L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=TTA;refseq.referenceCodon_2=TTA;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=42094895;refseq.start_2=42094895;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=Intersection GT 1/1 chr21 42113041 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=99.00;MQ0=0;OQ=1738.29;QD=14.25;RankSumP=0.461249;SB=-662.63;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2337T>C;refseq.codingCoordStr_2=c.3324T>C;refseq.codonCoord_1=779;refseq.codonCoord_2=1108;refseq.end_1=42113041;refseq.end_2=42113041;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2439;refseq.mrnaCoord_2=3435;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N779N;refseq.proteinCoordStr_2=p.N1108N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=42113041;refseq.start_2=42113041;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chr21 42129321 . C T 158.88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=98.63;MQ0=0;OQ=6745.94;QD=22.34;RankSumP=0.175509;SB=-2760.52;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1359G>A;refseq.codingCoordStr_2=c.2346G>A;refseq.codonCoord_1=453;refseq.codonCoord_2=782;refseq.end_1=42129321;refseq.end_2=42129321;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1461;refseq.mrnaCoord_2=2457;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q453Q;refseq.proteinCoordStr_2=p.Q782Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=42129321;refseq.start_2=42129321;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chr21 42129698 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=498;Dels=0.00;HRun=0;HaplotypeScore=7.80;MQ=98.68;MQ0=0;OQ=9637.25;QD=19.35;RankSumP=0.136698;SB=-3352.79;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1242C>T;refseq.codingCoordStr_2=c.2229C>T;refseq.codonCoord_1=414;refseq.codonCoord_2=743;refseq.end_1=42129698;refseq.end_2=42129698;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1344;refseq.mrnaCoord_2=2340;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C414C;refseq.proteinCoordStr_2=p.C743C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=42129698;refseq.start_2=42129698;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGT;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr21 42140329 . C T 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=73.07;QD=6.09;RankSumP=0.733333;SB=-10.00;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.690G>A;refseq.codingCoordStr_2=c.1677G>A;refseq.codonCoord_1=230;refseq.codonCoord_2=559;refseq.end_1=42140329;refseq.end_2=42140329;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=792;refseq.mrnaCoord_2=1788;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E230E;refseq.proteinCoordStr_2=p.E559E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=42140329;refseq.start_2=42140329;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=Intersection GT 0/1 chr21 42171915 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=99.00;MQ0=0;OQ=720.62;QD=14.71;RankSumP=0.260063;SB=-242.72;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.371G>A;refseq.codonCoord_2=124;refseq.end_1=42172437;refseq.end_2=42171915;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=482;refseq.name2_1=PRDM15;refseq.name2_2=PRDM15;refseq.name_1=NM_001040424;refseq.name_2=NM_022115;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G124D;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_2=-43;refseq.start_1=42153561;refseq.start_2=42171915;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr21 42200862 . C T 90.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=96.85;MQ0=0;OQ=2155.10;QD=28.73;RankSumP=1.00000;SB=-355.58;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1119G>A;refseq.codingCoordStr_2=c.654G>A;refseq.codonCoord_1=373;refseq.codonCoord_2=218;refseq.end_1=42200862;refseq.end_2=42200862;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1361;refseq.mrnaCoord_2=860;refseq.name2_1=C2CD2;refseq.name2_2=C2CD2;refseq.name_1=NM_015500;refseq.name_2=NM_199050;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S373S;refseq.proteinCoordStr_2=p.S218S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=42200862;refseq.start_2=42200862;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chr21 42235364 . C T 38.24 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=85.41;MQ0=0;QD=7.65;RankSumP=0.166667;SB=-3.99;SecondBestBaseQ=15;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.339G>A;refseq.codonCoord=113;refseq.end=42235364;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_015500;refseq.name2=C2CD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V113V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-40;refseq.start=42235364;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chr21 42246591 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.16818e-06;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.236C>G;refseq.codonCoord=79;refseq.end=42246591;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=478;refseq.name=NM_015500;refseq.name2=C2CD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A79G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-44;refseq.start=42246591;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr21 42377297 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.42;MQ=99.00;MQ0=0;OQ=1087.91;QD=16.24;RankSumP=0.0108721;SB=-473.09;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.354T>C;refseq.codingCoordStr_2=c.354T>C;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.end_1=42377297;refseq.end_2=42377297;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=354;refseq.mrnaCoord_2=354;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P118P;refseq.proteinCoordStr_2=p.P118P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=42377297;refseq.start_2=42377297;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/0 chr21 42383496 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=186;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.74;MQ0=0;OQ=2571.15;QD=13.82;RankSumP=0.370554;SB=-1180.69;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.810T>C;refseq.codingCoordStr_2=c.810T>C;refseq.codonCoord_1=270;refseq.codonCoord_2=270;refseq.end_1=42383496;refseq.end_2=42383496;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=810;refseq.mrnaCoord_2=810;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y270Y;refseq.proteinCoordStr_2=p.Y270Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=42383496;refseq.start_2=42383496;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr21 42383506 . A C 165.07 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=8.54;MQ=98.79;MQ0=0;OQ=2702.27;QD=14.30;RankSumP=0.144246;SB=-1343.80;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.820A>C;refseq.codingCoordStr_2=c.820A>C;refseq.codonCoord_1=274;refseq.codonCoord_2=274;refseq.end_1=42383506;refseq.end_2=42383506;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=820;refseq.mrnaCoord_2=820;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N274H;refseq.proteinCoordStr_2=p.N274H;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=42383506;refseq.start_2=42383506;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr21 42395418 . T C 271.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=389;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=98.85;MQ0=0;OQ=14961.69;QD=38.46;RankSumP=1.00000;SB=-6579.99;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.1260T>C;refseq.codingCoordStr_3=c.1260T>C;refseq.codonCoord_2=420;refseq.codonCoord_3=420;refseq.end_1=42395418;refseq.end_2=42395418;refseq.end_3=42395418;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2036;refseq.mrnaCoord_2=1260;refseq.mrnaCoord_3=1260;refseq.name2_1=C21orf128;refseq.name2_2=UMODL1;refseq.name2_3=UMODL1;refseq.name_1=NR_027243;refseq.name_2=NM_001004416;refseq.name_3=NM_173568;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S420S;refseq.proteinCoordStr_3=p.S420S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=-106;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.start_1=42395418;refseq.start_2=42395418;refseq.start_3=42395418;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;set=Intersection GT 1/1 chr21 42402818 . A C 69 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=220;Dels=0.00;HRun=2;HaplotypeScore=33.42;MQ=91.22;MQ0=0;QD=0.17;RankSumP=4.49487e-09;SB=65.21;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1597A>C;refseq.codingCoordStr_2=c.1597A>C;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=42402818;refseq.end_2=42402818;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1597;refseq.mrnaCoord_2=1597;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T533P;refseq.proteinCoordStr_2=p.T533P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=42402818;refseq.start_2=42402818;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr21 42404060 . T G 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1659T>G;refseq.codingCoordStr_2=c.1659T>G;refseq.codonCoord_1=553;refseq.codonCoord_2=553;refseq.end_1=42404060;refseq.end_2=42404060;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1659;refseq.mrnaCoord_2=1659;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G553G;refseq.proteinCoordStr_2=p.G553G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.start_1=42404060;refseq.start_2=42404060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr21 42404077 . T C 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=11.12;MQ=98.12;MQ0=0;OQ=1629.86;QD=24.33;RankSumP=1.00000;SB=-718.93;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1676T>C;refseq.codingCoordStr_2=c.1676T>C;refseq.codonCoord_1=559;refseq.codonCoord_2=559;refseq.end_1=42404077;refseq.end_2=42404077;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1676;refseq.mrnaCoord_2=1676;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M559T;refseq.proteinCoordStr_2=p.M559T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=42404077;refseq.start_2=42404077;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr21 42404472 . C G 8 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=79.84;MQ0=0;OQ=56.75;QD=18.92;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.2071C>G;refseq.codonCoord_2=691;refseq.end_1=42404674;refseq.end_2=42404472;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2071;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R691G;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=414;refseq.start_1=42404311;refseq.start_2=42404472;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=filterInsoap-gatk GT 1/1 chr21 42404566 . G C 26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=4;RankSumP=0.0780014;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.2165G>C;refseq.codonCoord_2=722;refseq.end_1=42404674;refseq.end_2=42404566;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2165;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S722T;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-324;refseq.start_1=42404311;refseq.start_2=42404566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=soap GT 0/1 chr21 42404622 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=306.55;QD=11.79;RankSumP=0.0776296;SB=-60.95;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.2221A>C;refseq.codonCoord_2=741;refseq.end_1=42404674;refseq.end_2=42404622;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2221;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T741P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=-268;refseq.start_1=42404311;refseq.start_2=42404622;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr21 42404701 . T C 231.60 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=105;Dels=0.00;HRun=1;HaplotypeScore=3.97;MQ=97.76;MQ0=0;OQ=3677.81;QD=35.03;RankSumP=1.00000;SB=-1099.89;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1916T>C;refseq.codingCoordStr_2=c.2300T>C;refseq.codonCoord_1=639;refseq.codonCoord_2=767;refseq.end_1=42404701;refseq.end_2=42404701;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1916;refseq.mrnaCoord_2=2300;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I639T;refseq.proteinCoordStr_2=p.I767T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=17;refseq.spliceDist_2=-189;refseq.start_1=42404701;refseq.start_2=42404701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=Intersection GT 1/1 chr21 42404842 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2057A>C;refseq.codingCoordStr_2=c.2441A>C;refseq.codonCoord_1=686;refseq.codonCoord_2=814;refseq.end_1=42404842;refseq.end_2=42404842;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2057;refseq.mrnaCoord_2=2441;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D686A;refseq.proteinCoordStr_2=p.D814A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=-48;refseq.spliceDist_2=-48;refseq.start_1=42404842;refseq.start_2=42404842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr21 42404877 . A C 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=125;Dels=0.00;HRun=5;HaplotypeScore=1.05;MQ=98.61;MQ0=0;OQ=1072.78;QD=8.58;RankSumP=0.000967987;SB=-456.11;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2092A>C;refseq.codingCoordStr_2=c.2476A>C;refseq.codonCoord_1=698;refseq.codonCoord_2=826;refseq.end_1=42404877;refseq.end_2=42404877;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2092;refseq.mrnaCoord_2=2476;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T698P;refseq.proteinCoordStr_2=p.T826P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=42404877;refseq.start_2=42404877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr21 42412362 . G A 105.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=184;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.98;MQ0=0;OQ=2139.27;QD=11.63;RankSumP=0.0931657;SB=-1066.92;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.2548G>A;refseq.codingCoordStr_2=c.2932G>A;refseq.codonCoord_1=850;refseq.codonCoord_2=978;refseq.end_1=42412362;refseq.end_2=42412362;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2548;refseq.mrnaCoord_2=2932;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V850I;refseq.proteinCoordStr_2=p.V978I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=42412362;refseq.start_2=42412362;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/0 chr21 42420857 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=133;Dels=0.00;HRun=3;HaplotypeScore=5.51;MQ=98.09;MQ0=0;OQ=5007.09;QD=37.65;RankSumP=1.00000;SB=-1219.68;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.3537T>C;refseq.codingCoordStr_2=c.3921T>C;refseq.codonCoord_1=1179;refseq.codonCoord_2=1307;refseq.end_1=42420857;refseq.end_2=42420857;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3537;refseq.mrnaCoord_2=3921;refseq.name2_1=UMODL1;refseq.name2_2=UMODL1;refseq.name_1=NM_001004416;refseq.name_2=NM_173568;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P1179P;refseq.proteinCoordStr_2=p.P1307P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=42420857;refseq.start_2=42420857;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr21 42640761 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=1.00242e-08;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.279C>A;refseq.codonCoord=93;refseq.end=42640761;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_005423;refseq.name2=TFF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y93*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=50;refseq.start=42640761;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chr21 42676236 . T C 204.34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.89;MQ0=0;OQ=1309.96;QD=15.59;RankSumP=0.265584;SB=-405.19;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.757A>G;refseq.codingCoordStr_3=c.757A>G;refseq.codonCoord_2=253;refseq.codonCoord_3=253;refseq.end_1=42676236;refseq.end_2=42676236;refseq.end_3=42676236;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=651;refseq.mrnaCoord_2=958;refseq.mrnaCoord_3=958;refseq.name2_1=TMPRSS3;refseq.name2_2=TMPRSS3;refseq.name2_3=TMPRSS3;refseq.name_1=NR_027348;refseq.name_2=NM_024022;refseq.name_3=NM_032405;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.I253V;refseq.proteinCoordStr_3=p.I253V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.spliceDist_1=-26;refseq.spliceDist_2=-26;refseq.spliceDist_3=-26;refseq.start_1=42676236;refseq.start_2=42676236;refseq.start_3=42676236;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;set=Intersection GT 1/0 chr21 42678706 . C T 225.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=210;Dels=0.00;HRun=1;HaplotypeScore=5.37;MQ=98.87;MQ0=0;OQ=3153.87;QD=15.02;RankSumP=0.348071;SB=-1509.31;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.453G>A;refseq.codingCoordStr_3=c.453G>A;refseq.codonCoord_2=151;refseq.codonCoord_3=151;refseq.end_1=42678706;refseq.end_2=42678706;refseq.end_3=42678706;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=347;refseq.mrnaCoord_2=654;refseq.mrnaCoord_3=654;refseq.name2_1=TMPRSS3;refseq.name2_2=TMPRSS3;refseq.name2_3=TMPRSS3;refseq.name_1=NR_027348;refseq.name_2=NM_024022;refseq.name_3=NM_032405;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V151V;refseq.proteinCoordStr_3=p.V151V;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=42678706;refseq.start_2=42678706;refseq.start_3=42678706;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 0/1 chr21 42683153 . C T 327.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.95;MQ0=0;OQ=4269.38;QD=18.56;RankSumP=0.245777;SB=-1462.78;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.157G>A;refseq.codingCoordStr_2=c.157G>A;refseq.codonCoord_1=53;refseq.codonCoord_2=53;refseq.end_1=42683153;refseq.end_2=42683153;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=358;refseq.name2_1=TMPRSS3;refseq.name2_2=TMPRSS3;refseq.name_1=NM_024022;refseq.name_2=NM_032405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V53I;refseq.proteinCoordStr_2=p.V53I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=42683153;refseq.start_2=42683153;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr21 42697175 . A G 35.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=9.06;MQ=98.15;MQ0=0;QD=1.54;RankSumP=0.424486;SB=-27.87;SecondBestBaseQ=20;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.52A>G;refseq.codingCoordStr_2=c.52A>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=42697175;refseq.end_2=42697175;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=88;refseq.mrnaCoord_2=88;refseq.name2_1=UBASH3A;refseq.name2_2=UBASH3A;refseq.name_1=NM_001001895;refseq.name_2=NM_018961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S18G;refseq.proteinCoordStr_2=p.S18G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-62;refseq.spliceDist_2=-62;refseq.start_1=42697175;refseq.start_2=42697175;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=soap-filterIngatk GT 0/1 chr21 42697192 . G C 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=97.28;MQ0=0;OQ=157.14;QD=6.83;RankSumP=0.689325;SB=-37.43;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.69G>C;refseq.codingCoordStr_2=c.69G>C;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=42697192;refseq.end_2=42697192;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=105;refseq.mrnaCoord_2=105;refseq.name2_1=UBASH3A;refseq.name2_2=UBASH3A;refseq.name_1=NM_001001895;refseq.name_2=NM_018961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S23S;refseq.proteinCoordStr_2=p.S23S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.start_1=42697192;refseq.start_2=42697192;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chr21 42706678 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=1;RankSumP=1.76299e-08;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.644T>G;refseq.codonCoord_2=215;refseq.end_1=42709609;refseq.end_2=42706678;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=680;refseq.name2_1=UBASH3A;refseq.name2_2=UBASH3A;refseq.name_1=NM_001001895;refseq.name_2=NM_018961;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V215G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-24;refseq.start_1=42706411;refseq.start_2=42706678;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr21 42711712 . G A 124.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=7.66;MQ=98.92;MQ0=0;OQ=1313.52;QD=12.75;RankSumP=0.269791;SB=-517.47;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.857G>A;refseq.codingCoordStr_2=c.971G>A;refseq.codonCoord_1=286;refseq.codonCoord_2=324;refseq.end_1=42711712;refseq.end_2=42711712;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=893;refseq.mrnaCoord_2=1007;refseq.name2_1=UBASH3A;refseq.name2_2=UBASH3A;refseq.name_1=NM_001001895;refseq.name_2=NM_018961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R286Q;refseq.proteinCoordStr_2=p.R324Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.start_1=42711712;refseq.start_2=42711712;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/0 chr21 42736590 . A G 286.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1026.53;QD=35.40;RankSumP=1.00000;SB=-269.72;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1617A>G;refseq.codingCoordStr_2=c.1731A>G;refseq.codonCoord_1=539;refseq.codonCoord_2=577;refseq.end_1=42736590;refseq.end_2=42736590;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1653;refseq.mrnaCoord_2=1767;refseq.name2_1=UBASH3A;refseq.name2_2=UBASH3A;refseq.name_1=NM_001001895;refseq.name_2=NM_018961;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P539P;refseq.proteinCoordStr_2=p.P577P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-8;refseq.spliceDist_2=-8;refseq.spliceInfo_1=splice-donor_-8;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=42736590;refseq.start_2=42736590;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr21 42778956 . C T 314.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=4.19;MQ=98.64;MQ0=0;OQ=2401.04;QD=17.40;RankSumP=0.365568;SB=-963.91;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.393G>A;refseq.codonCoord=131;refseq.end=42778956;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_080860;refseq.name2=RSPH1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A131A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=28;refseq.start=42778956;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr21 42859024 . G A 181.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=419;Dels=0.00;HRun=0;HaplotypeScore=13.69;MQ=98.87;MQ0=0;OQ=16759.14;QD=40.00;RankSumP=1.00000;SB=-7520.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1240G>A;refseq.codonCoord=414;refseq.end=42859024;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_018964;refseq.name2=SLC37A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V414I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=19;refseq.start=42859024;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr21 43062235 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=2;HaplotypeScore=1.30;MQ=98.60;MQ0=0;OQ=1565.64;QD=11.43;RankSumP=0.370674;SB=-524.74;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_15=false;refseq.changesAA_16=false;refseq.changesAA_17=false;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.changesAA_2=false;refseq.changesAA_20=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr21;refseq.chr_10=chr21;refseq.chr_11=chr21;refseq.chr_12=chr21;refseq.chr_13=chr21;refseq.chr_14=chr21;refseq.chr_15=chr21;refseq.chr_16=chr21;refseq.chr_17=chr21;refseq.chr_18=chr21;refseq.chr_19=chr21;refseq.chr_2=chr21;refseq.chr_20=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.chr_6=chr21;refseq.chr_7=chr21;refseq.chr_8=chr21;refseq.chr_9=chr21;refseq.codingCoordStr_1=c.1311T>C;refseq.codingCoordStr_10=c.840T>C;refseq.codingCoordStr_11=c.1089T>C;refseq.codingCoordStr_12=c.1185T>C;refseq.codingCoordStr_13=c.870T>C;refseq.codingCoordStr_14=c.840T>C;refseq.codingCoordStr_15=c.1290T>C;refseq.codingCoordStr_16=c.1368T>C;refseq.codingCoordStr_17=c.1413T>C;refseq.codingCoordStr_18=c.870T>C;refseq.codingCoordStr_19=c.870T>C;refseq.codingCoordStr_2=c.1110T>C;refseq.codingCoordStr_20=c.1491T>C;refseq.codingCoordStr_3=c.1107T>C;refseq.codingCoordStr_4=c.1332T>C;refseq.codingCoordStr_5=c.1188T>C;refseq.codingCoordStr_6=c.870T>C;refseq.codingCoordStr_7=c.870T>C;refseq.codingCoordStr_8=c.1233T>C;refseq.codingCoordStr_9=c.1011T>C;refseq.codonCoord_1=437;refseq.codonCoord_10=280;refseq.codonCoord_11=363;refseq.codonCoord_12=395;refseq.codonCoord_13=290;refseq.codonCoord_14=280;refseq.codonCoord_15=430;refseq.codonCoord_16=456;refseq.codonCoord_17=471;refseq.codonCoord_18=290;refseq.codonCoord_19=290;refseq.codonCoord_2=370;refseq.codonCoord_20=497;refseq.codonCoord_3=369;refseq.codonCoord_4=444;refseq.codonCoord_5=396;refseq.codonCoord_6=290;refseq.codonCoord_7=290;refseq.codonCoord_8=411;refseq.codonCoord_9=337;refseq.end_1=43062235;refseq.end_10=43062235;refseq.end_11=43062235;refseq.end_12=43062235;refseq.end_13=43062235;refseq.end_14=43062235;refseq.end_15=43062235;refseq.end_16=43062235;refseq.end_17=43062235;refseq.end_18=43062235;refseq.end_19=43062235;refseq.end_2=43062235;refseq.end_20=43062235;refseq.end_3=43062235;refseq.end_4=43062235;refseq.end_5=43062235;refseq.end_6=43062235;refseq.end_7=43062235;refseq.end_8=43062235;refseq.end_9=43062235;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_15=2;refseq.frame_16=2;refseq.frame_17=2;refseq.frame_18=2;refseq.frame_19=2;refseq.frame_2=2;refseq.frame_20=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_15=silent;refseq.functionalClass_16=silent;refseq.functionalClass_17=silent;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.functionalClass_2=silent;refseq.functionalClass_20=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_15=C;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeAlternate_18=C;refseq.haplotypeAlternate_19=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_20=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_13=T;refseq.haplotypeReference_14=T;refseq.haplotypeReference_15=T;refseq.haplotypeReference_16=T;refseq.haplotypeReference_17=T;refseq.haplotypeReference_18=T;refseq.haplotypeReference_19=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_20=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_20=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1374;refseq.mrnaCoord_10=1085;refseq.mrnaCoord_11=1204;refseq.mrnaCoord_12=1248;refseq.mrnaCoord_13=1241;refseq.mrnaCoord_14=1041;refseq.mrnaCoord_15=1405;refseq.mrnaCoord_16=1483;refseq.mrnaCoord_17=1476;refseq.mrnaCoord_18=1304;refseq.mrnaCoord_19=1428;refseq.mrnaCoord_2=1225;refseq.mrnaCoord_20=1554;refseq.mrnaCoord_3=1170;refseq.mrnaCoord_4=1395;refseq.mrnaCoord_5=1303;refseq.mrnaCoord_6=1181;refseq.mrnaCoord_7=1361;refseq.mrnaCoord_8=1296;refseq.mrnaCoord_9=1126;refseq.name2_1=PDE9A;refseq.name2_10=PDE9A;refseq.name2_11=PDE9A;refseq.name2_12=PDE9A;refseq.name2_13=PDE9A;refseq.name2_14=PDE9A;refseq.name2_15=PDE9A;refseq.name2_16=PDE9A;refseq.name2_17=PDE9A;refseq.name2_18=PDE9A;refseq.name2_19=PDE9A;refseq.name2_2=PDE9A;refseq.name2_20=PDE9A;refseq.name2_3=PDE9A;refseq.name2_4=PDE9A;refseq.name2_5=PDE9A;refseq.name2_6=PDE9A;refseq.name2_7=PDE9A;refseq.name2_8=PDE9A;refseq.name2_9=PDE9A;refseq.name_1=NM_001001567;refseq.name_10=NM_001001576;refseq.name_11=NM_001001577;refseq.name_12=NM_001001578;refseq.name_13=NM_001001579;refseq.name_14=NM_001001580;refseq.name_15=NM_001001581;refseq.name_16=NM_001001582;refseq.name_17=NM_001001583;refseq.name_18=NM_001001584;refseq.name_19=NM_001001585;refseq.name_2=NM_001001568;refseq.name_20=NM_002606;refseq.name_3=NM_001001569;refseq.name_4=NM_001001570;refseq.name_5=NM_001001571;refseq.name_6=NM_001001572;refseq.name_7=NM_001001573;refseq.name_8=NM_001001574;refseq.name_9=NM_001001575;refseq.numMatchingRecords=20;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=CDS;refseq.positionType_20=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.P437P;refseq.proteinCoordStr_10=p.P280P;refseq.proteinCoordStr_11=p.P363P;refseq.proteinCoordStr_12=p.P395P;refseq.proteinCoordStr_13=p.P290P;refseq.proteinCoordStr_14=p.P280P;refseq.proteinCoordStr_15=p.P430P;refseq.proteinCoordStr_16=p.P456P;refseq.proteinCoordStr_17=p.P471P;refseq.proteinCoordStr_18=p.P290P;refseq.proteinCoordStr_19=p.P290P;refseq.proteinCoordStr_2=p.P370P;refseq.proteinCoordStr_20=p.P497P;refseq.proteinCoordStr_3=p.P369P;refseq.proteinCoordStr_4=p.P444P;refseq.proteinCoordStr_5=p.P396P;refseq.proteinCoordStr_6=p.P290P;refseq.proteinCoordStr_7=p.P290P;refseq.proteinCoordStr_8=p.P411P;refseq.proteinCoordStr_9=p.P337P;refseq.referenceAA_1=Pro;refseq.referenceAA_10=Pro;refseq.referenceAA_11=Pro;refseq.referenceAA_12=Pro;refseq.referenceAA_13=Pro;refseq.referenceAA_14=Pro;refseq.referenceAA_15=Pro;refseq.referenceAA_16=Pro;refseq.referenceAA_17=Pro;refseq.referenceAA_18=Pro;refseq.referenceAA_19=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_20=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceAA_9=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_10=CCT;refseq.referenceCodon_11=CCT;refseq.referenceCodon_12=CCT;refseq.referenceCodon_13=CCT;refseq.referenceCodon_14=CCT;refseq.referenceCodon_15=CCT;refseq.referenceCodon_16=CCT;refseq.referenceCodon_17=CCT;refseq.referenceCodon_18=CCT;refseq.referenceCodon_19=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_20=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.referenceCodon_7=CCT;refseq.referenceCodon_8=CCT;refseq.referenceCodon_9=CCT;refseq.spliceDist_1=30;refseq.spliceDist_10=30;refseq.spliceDist_11=30;refseq.spliceDist_12=30;refseq.spliceDist_13=30;refseq.spliceDist_14=30;refseq.spliceDist_15=30;refseq.spliceDist_16=30;refseq.spliceDist_17=30;refseq.spliceDist_18=30;refseq.spliceDist_19=30;refseq.spliceDist_2=30;refseq.spliceDist_20=30;refseq.spliceDist_3=30;refseq.spliceDist_4=30;refseq.spliceDist_5=30;refseq.spliceDist_6=30;refseq.spliceDist_7=30;refseq.spliceDist_8=30;refseq.spliceDist_9=30;refseq.start_1=43062235;refseq.start_10=43062235;refseq.start_11=43062235;refseq.start_12=43062235;refseq.start_13=43062235;refseq.start_14=43062235;refseq.start_15=43062235;refseq.start_16=43062235;refseq.start_17=43062235;refseq.start_18=43062235;refseq.start_19=43062235;refseq.start_2=43062235;refseq.start_20=43062235;refseq.start_3=43062235;refseq.start_4=43062235;refseq.start_5=43062235;refseq.start_6=43062235;refseq.start_7=43062235;refseq.start_8=43062235;refseq.start_9=43062235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Pro;refseq.variantAA_10=Pro;refseq.variantAA_11=Pro;refseq.variantAA_12=Pro;refseq.variantAA_13=Pro;refseq.variantAA_14=Pro;refseq.variantAA_15=Pro;refseq.variantAA_16=Pro;refseq.variantAA_17=Pro;refseq.variantAA_18=Pro;refseq.variantAA_19=Pro;refseq.variantAA_2=Pro;refseq.variantAA_20=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantAA_9=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_10=CCC;refseq.variantCodon_11=CCC;refseq.variantCodon_12=CCC;refseq.variantCodon_13=CCC;refseq.variantCodon_14=CCC;refseq.variantCodon_15=CCC;refseq.variantCodon_16=CCC;refseq.variantCodon_17=CCC;refseq.variantCodon_18=CCC;refseq.variantCodon_19=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_20=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;refseq.variantCodon_9=CCC;set=Intersection GT 1/0 chr21 43062241 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=2.30;MQ=98.62;MQ0=0;OQ=1835.89;QD=12.75;RankSumP=0.0649450;SB=-658.58;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_10=false;refseq.changesAA_11=false;refseq.changesAA_12=false;refseq.changesAA_13=false;refseq.changesAA_14=false;refseq.changesAA_15=false;refseq.changesAA_16=false;refseq.changesAA_17=false;refseq.changesAA_18=false;refseq.changesAA_19=false;refseq.changesAA_2=false;refseq.changesAA_20=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.changesAA_9=false;refseq.chr_1=chr21;refseq.chr_10=chr21;refseq.chr_11=chr21;refseq.chr_12=chr21;refseq.chr_13=chr21;refseq.chr_14=chr21;refseq.chr_15=chr21;refseq.chr_16=chr21;refseq.chr_17=chr21;refseq.chr_18=chr21;refseq.chr_19=chr21;refseq.chr_2=chr21;refseq.chr_20=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.chr_6=chr21;refseq.chr_7=chr21;refseq.chr_8=chr21;refseq.chr_9=chr21;refseq.codingCoordStr_1=c.1317A>C;refseq.codingCoordStr_10=c.846A>C;refseq.codingCoordStr_11=c.1095A>C;refseq.codingCoordStr_12=c.1191A>C;refseq.codingCoordStr_13=c.876A>C;refseq.codingCoordStr_14=c.846A>C;refseq.codingCoordStr_15=c.1296A>C;refseq.codingCoordStr_16=c.1374A>C;refseq.codingCoordStr_17=c.1419A>C;refseq.codingCoordStr_18=c.876A>C;refseq.codingCoordStr_19=c.876A>C;refseq.codingCoordStr_2=c.1116A>C;refseq.codingCoordStr_20=c.1497A>C;refseq.codingCoordStr_3=c.1113A>C;refseq.codingCoordStr_4=c.1338A>C;refseq.codingCoordStr_5=c.1194A>C;refseq.codingCoordStr_6=c.876A>C;refseq.codingCoordStr_7=c.876A>C;refseq.codingCoordStr_8=c.1239A>C;refseq.codingCoordStr_9=c.1017A>C;refseq.codonCoord_1=439;refseq.codonCoord_10=282;refseq.codonCoord_11=365;refseq.codonCoord_12=397;refseq.codonCoord_13=292;refseq.codonCoord_14=282;refseq.codonCoord_15=432;refseq.codonCoord_16=458;refseq.codonCoord_17=473;refseq.codonCoord_18=292;refseq.codonCoord_19=292;refseq.codonCoord_2=372;refseq.codonCoord_20=499;refseq.codonCoord_3=371;refseq.codonCoord_4=446;refseq.codonCoord_5=398;refseq.codonCoord_6=292;refseq.codonCoord_7=292;refseq.codonCoord_8=413;refseq.codonCoord_9=339;refseq.end_1=43062241;refseq.end_10=43062241;refseq.end_11=43062241;refseq.end_12=43062241;refseq.end_13=43062241;refseq.end_14=43062241;refseq.end_15=43062241;refseq.end_16=43062241;refseq.end_17=43062241;refseq.end_18=43062241;refseq.end_19=43062241;refseq.end_2=43062241;refseq.end_20=43062241;refseq.end_3=43062241;refseq.end_4=43062241;refseq.end_5=43062241;refseq.end_6=43062241;refseq.end_7=43062241;refseq.end_8=43062241;refseq.end_9=43062241;refseq.frame_1=2;refseq.frame_10=2;refseq.frame_11=2;refseq.frame_12=2;refseq.frame_13=2;refseq.frame_14=2;refseq.frame_15=2;refseq.frame_16=2;refseq.frame_17=2;refseq.frame_18=2;refseq.frame_19=2;refseq.frame_2=2;refseq.frame_20=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.frame_9=2;refseq.functionalClass_1=silent;refseq.functionalClass_10=silent;refseq.functionalClass_11=silent;refseq.functionalClass_12=silent;refseq.functionalClass_13=silent;refseq.functionalClass_14=silent;refseq.functionalClass_15=silent;refseq.functionalClass_16=silent;refseq.functionalClass_17=silent;refseq.functionalClass_18=silent;refseq.functionalClass_19=silent;refseq.functionalClass_2=silent;refseq.functionalClass_20=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.functionalClass_9=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_15=C;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeAlternate_18=C;refseq.haplotypeAlternate_19=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_20=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_10=A;refseq.haplotypeReference_11=A;refseq.haplotypeReference_12=A;refseq.haplotypeReference_13=A;refseq.haplotypeReference_14=A;refseq.haplotypeReference_15=A;refseq.haplotypeReference_16=A;refseq.haplotypeReference_17=A;refseq.haplotypeReference_18=A;refseq.haplotypeReference_19=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_20=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.haplotypeReference_7=A;refseq.haplotypeReference_8=A;refseq.haplotypeReference_9=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_19=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_20=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=1380;refseq.mrnaCoord_10=1091;refseq.mrnaCoord_11=1210;refseq.mrnaCoord_12=1254;refseq.mrnaCoord_13=1247;refseq.mrnaCoord_14=1047;refseq.mrnaCoord_15=1411;refseq.mrnaCoord_16=1489;refseq.mrnaCoord_17=1482;refseq.mrnaCoord_18=1310;refseq.mrnaCoord_19=1434;refseq.mrnaCoord_2=1231;refseq.mrnaCoord_20=1560;refseq.mrnaCoord_3=1176;refseq.mrnaCoord_4=1401;refseq.mrnaCoord_5=1309;refseq.mrnaCoord_6=1187;refseq.mrnaCoord_7=1367;refseq.mrnaCoord_8=1302;refseq.mrnaCoord_9=1132;refseq.name2_1=PDE9A;refseq.name2_10=PDE9A;refseq.name2_11=PDE9A;refseq.name2_12=PDE9A;refseq.name2_13=PDE9A;refseq.name2_14=PDE9A;refseq.name2_15=PDE9A;refseq.name2_16=PDE9A;refseq.name2_17=PDE9A;refseq.name2_18=PDE9A;refseq.name2_19=PDE9A;refseq.name2_2=PDE9A;refseq.name2_20=PDE9A;refseq.name2_3=PDE9A;refseq.name2_4=PDE9A;refseq.name2_5=PDE9A;refseq.name2_6=PDE9A;refseq.name2_7=PDE9A;refseq.name2_8=PDE9A;refseq.name2_9=PDE9A;refseq.name_1=NM_001001567;refseq.name_10=NM_001001576;refseq.name_11=NM_001001577;refseq.name_12=NM_001001578;refseq.name_13=NM_001001579;refseq.name_14=NM_001001580;refseq.name_15=NM_001001581;refseq.name_16=NM_001001582;refseq.name_17=NM_001001583;refseq.name_18=NM_001001584;refseq.name_19=NM_001001585;refseq.name_2=NM_001001568;refseq.name_20=NM_002606;refseq.name_3=NM_001001569;refseq.name_4=NM_001001570;refseq.name_5=NM_001001571;refseq.name_6=NM_001001572;refseq.name_7=NM_001001573;refseq.name_8=NM_001001574;refseq.name_9=NM_001001575;refseq.numMatchingRecords=20;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_19=CDS;refseq.positionType_2=CDS;refseq.positionType_20=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.A439A;refseq.proteinCoordStr_10=p.A282A;refseq.proteinCoordStr_11=p.A365A;refseq.proteinCoordStr_12=p.A397A;refseq.proteinCoordStr_13=p.A292A;refseq.proteinCoordStr_14=p.A282A;refseq.proteinCoordStr_15=p.A432A;refseq.proteinCoordStr_16=p.A458A;refseq.proteinCoordStr_17=p.A473A;refseq.proteinCoordStr_18=p.A292A;refseq.proteinCoordStr_19=p.A292A;refseq.proteinCoordStr_2=p.A372A;refseq.proteinCoordStr_20=p.A499A;refseq.proteinCoordStr_3=p.A371A;refseq.proteinCoordStr_4=p.A446A;refseq.proteinCoordStr_5=p.A398A;refseq.proteinCoordStr_6=p.A292A;refseq.proteinCoordStr_7=p.A292A;refseq.proteinCoordStr_8=p.A413A;refseq.proteinCoordStr_9=p.A339A;refseq.referenceAA_1=Ala;refseq.referenceAA_10=Ala;refseq.referenceAA_11=Ala;refseq.referenceAA_12=Ala;refseq.referenceAA_13=Ala;refseq.referenceAA_14=Ala;refseq.referenceAA_15=Ala;refseq.referenceAA_16=Ala;refseq.referenceAA_17=Ala;refseq.referenceAA_18=Ala;refseq.referenceAA_19=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_20=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_10=GCA;refseq.referenceCodon_11=GCA;refseq.referenceCodon_12=GCA;refseq.referenceCodon_13=GCA;refseq.referenceCodon_14=GCA;refseq.referenceCodon_15=GCA;refseq.referenceCodon_16=GCA;refseq.referenceCodon_17=GCA;refseq.referenceCodon_18=GCA;refseq.referenceCodon_19=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_20=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.referenceCodon_5=GCA;refseq.referenceCodon_6=GCA;refseq.referenceCodon_7=GCA;refseq.referenceCodon_8=GCA;refseq.referenceCodon_9=GCA;refseq.spliceDist_1=36;refseq.spliceDist_10=36;refseq.spliceDist_11=36;refseq.spliceDist_12=36;refseq.spliceDist_13=36;refseq.spliceDist_14=36;refseq.spliceDist_15=36;refseq.spliceDist_16=36;refseq.spliceDist_17=36;refseq.spliceDist_18=36;refseq.spliceDist_19=36;refseq.spliceDist_2=36;refseq.spliceDist_20=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.spliceDist_5=36;refseq.spliceDist_6=36;refseq.spliceDist_7=36;refseq.spliceDist_8=36;refseq.spliceDist_9=36;refseq.start_1=43062241;refseq.start_10=43062241;refseq.start_11=43062241;refseq.start_12=43062241;refseq.start_13=43062241;refseq.start_14=43062241;refseq.start_15=43062241;refseq.start_16=43062241;refseq.start_17=43062241;refseq.start_18=43062241;refseq.start_19=43062241;refseq.start_2=43062241;refseq.start_20=43062241;refseq.start_3=43062241;refseq.start_4=43062241;refseq.start_5=43062241;refseq.start_6=43062241;refseq.start_7=43062241;refseq.start_8=43062241;refseq.start_9=43062241;refseq.transcriptStrand_1=+;refseq.transcriptStrand_10=+;refseq.transcriptStrand_11=+;refseq.transcriptStrand_12=+;refseq.transcriptStrand_13=+;refseq.transcriptStrand_14=+;refseq.transcriptStrand_15=+;refseq.transcriptStrand_16=+;refseq.transcriptStrand_17=+;refseq.transcriptStrand_18=+;refseq.transcriptStrand_19=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_20=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.transcriptStrand_9=+;refseq.variantAA_1=Ala;refseq.variantAA_10=Ala;refseq.variantAA_11=Ala;refseq.variantAA_12=Ala;refseq.variantAA_13=Ala;refseq.variantAA_14=Ala;refseq.variantAA_15=Ala;refseq.variantAA_16=Ala;refseq.variantAA_17=Ala;refseq.variantAA_18=Ala;refseq.variantAA_19=Ala;refseq.variantAA_2=Ala;refseq.variantAA_20=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantAA_7=Ala;refseq.variantAA_8=Ala;refseq.variantAA_9=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_10=GCC;refseq.variantCodon_11=GCC;refseq.variantCodon_12=GCC;refseq.variantCodon_13=GCC;refseq.variantCodon_14=GCC;refseq.variantCodon_15=GCC;refseq.variantCodon_16=GCC;refseq.variantCodon_17=GCC;refseq.variantCodon_18=GCC;refseq.variantCodon_19=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_20=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;refseq.variantCodon_7=GCC;refseq.variantCodon_8=GCC;refseq.variantCodon_9=GCC;set=Intersection GT 0/1 chr21 43143298 . C T 192.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=98.72;MQ0=0;OQ=2112.04;QD=14.67;RankSumP=0.0963633;SB=-375.81;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1169G>A;refseq.codingCoordStr_2=c.1169G>A;refseq.codonCoord_1=390;refseq.codonCoord_2=390;refseq.end_1=43143298;refseq.end_2=43143298;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1242;refseq.mrnaCoord_2=1242;refseq.name2_1=WDR4;refseq.name2_2=WDR4;refseq.name_1=NM_018669;refseq.name_2=NM_033661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R390Q;refseq.proteinCoordStr_2=p.R390Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.spliceDist_1=124;refseq.spliceDist_2=-79;refseq.start_1=43143298;refseq.start_2=43143298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 0/1 chr21 43146746 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=4.72987e-09;SecondBestBaseQ=10;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.975+2;refseq.codingCoordStr_2=c.975+2;refseq.end_1=43146746;refseq.end_2=43146746;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=WDR4;refseq.name2_2=WDR4;refseq.name_1=NM_018669;refseq.name_2=NM_033661;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=43146746;refseq.start_2=43146746;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr21 43146927 . G A 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=147.05;QD=11.31;RankSumP=0.474858;SB=-88.31;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.796C>T;refseq.codingCoordStr_2=c.796C>T;refseq.codonCoord_1=266;refseq.codonCoord_2=266;refseq.end_1=43146927;refseq.end_2=43146927;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=869;refseq.mrnaCoord_2=869;refseq.name2_1=WDR4;refseq.name2_2=WDR4;refseq.name_1=NM_018669;refseq.name_2=NM_033661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P266S;refseq.proteinCoordStr_2=p.P266S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=5;refseq.spliceDist_2=5;refseq.spliceInfo_1=splice-acceptor_5;refseq.spliceInfo_2=splice-acceptor_5;refseq.start_1=43146927;refseq.start_2=43146927;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;set=Intersection GT 1/0 chr21 43166813 . C G 244.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=481;Dels=0.00;HRun=0;HaplotypeScore=6.76;MQ=98.76;MQ0=0;OQ=11542.23;QD=24.00;RankSumP=0.404606;SB=-2693.48;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.213G>C;refseq.codingCoordStr_2=c.213G>C;refseq.codonCoord_1=71;refseq.codonCoord_2=71;refseq.end_1=43166813;refseq.end_2=43166813;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=286;refseq.mrnaCoord_2=286;refseq.name2_1=WDR4;refseq.name2_2=WDR4;refseq.name_1=NM_018669;refseq.name_2=NM_033661;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K71N;refseq.proteinCoordStr_2=p.K71N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.start_1=43166813;refseq.start_2=43166813;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr21 43196659 . T G 105.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.50;MQ0=0;OQ=1787.52;QD=12.08;RankSumP=0.292697;SB=-505.19;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.468T>G;refseq.codonCoord_2=156;refseq.end_1=43202032;refseq.end_2=43196659;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=534;refseq.name2_1=NDUFV3;refseq.name2_2=NDUFV3;refseq.name_1=NM_001001503;refseq.name_2=NM_021075;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S156S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=299;refseq.start_1=43190237;refseq.start_2=43196659;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr21 43197434 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=98.26;MQ0=0;OQ=658.29;QD=14.63;RankSumP=0.251266;SB=-151.60;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.1243G>A;refseq.codonCoord_2=415;refseq.end_1=43202032;refseq.end_2=43197434;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1309;refseq.name2_1=NDUFV3;refseq.name2_2=NDUFV3;refseq.name_1=NM_001001503;refseq.name_2=NM_021075;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D415N;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-22;refseq.start_1=43190237;refseq.start_2=43197434;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asn;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr21 43303394 . T C 166.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.79;MQ0=0;OQ=1627.18;QD=35.37;RankSumP=1.00000;SB=-175.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.342T>C;refseq.codonCoord=114;refseq.end=43303394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_004571;refseq.name2=PKNOX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T114T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=43303394;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr21 43353685 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=17.47;MQ=98.89;MQ0=0;OQ=1996.83;QD=12.56;RankSumP=0.230577;SB=-538.97;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1080C>T;refseq.codonCoord=360;refseq.end=43353685;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1325;refseq.name=NM_000071;refseq.name2=CBS;refseq.positionType=CDS;refseq.proteinCoordStr=p.A360A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=41;refseq.start=43353685;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr21 43358419 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.90;MQ0=0;OQ=663.13;QD=10.87;RankSumP=0.174691;SB=-251.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.699C>T;refseq.codonCoord=233;refseq.end=43358419;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=944;refseq.name=NM_000071;refseq.name2=CBS;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y233Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=33;refseq.start=43358419;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr21 43462284 . C T 423.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.29;MQ0=0;OQ=4195.57;QD=38.14;RankSumP=1.00000;SB=-1037.66;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.6C>T;refseq.codonCoord=2;refseq.end=43462284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=75;refseq.name=NM_000394;refseq.name2=CRYAA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=75;refseq.start=43462284;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr21 43465281 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.344A>C;refseq.codonCoord=115;refseq.end=43465281;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=413;refseq.name=NM_000394;refseq.name2=CRYAA;refseq.positionType=CDS;refseq.proteinCoordStr=p.H115P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=32;refseq.start=43465281;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr21 43661979 . G A 13.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=97.35;MQ0=0;OQ=667.91;QD=26.72;RankSumP=0.222661;SB=-310.38;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1848C>T;refseq.codonCoord=616;refseq.end=43661979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1975;refseq.name=NM_173354;refseq.name2=SIK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P616P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=104;refseq.start=43661979;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=filterInsoap-gatk GT 1/0 chr21 43661983 . G A 100.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=97.58;MQ0=0;OQ=705.27;QD=24.32;RankSumP=1.00000;SB=-378.51;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1844C>T;refseq.codonCoord=615;refseq.end=43661983;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1971;refseq.name=NM_173354;refseq.name2=SIK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A615V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=100;refseq.start=43661983;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr21 43670444 . C T 359.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=97.89;MQ0=0;OQ=1053.49;QD=37.62;RankSumP=1.00000;SB=-381.99;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.43G>A;refseq.codonCoord=15;refseq.end=43670444;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_173354;refseq.name2=SIK1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G15S;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=57;refseq.start=43670444;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr21 43920634 . G A 116.71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=322;Dels=0.00;HRun=2;HaplotypeScore=7.27;MQ=98.89;MQ0=0;OQ=7006.61;QD=21.76;RankSumP=0.338062;SB=-2577.85;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=43920634;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_015056;refseq.name2=RRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A201A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-12;refseq.start=43920634;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr21 43931946 . A G 248.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.89;MQ0=0;OQ=1182.52;QD=33.79;RankSumP=1.00000;SB=-269.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1263A>G;refseq.codonCoord=421;refseq.end=43931946;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1377;refseq.name=NM_015056;refseq.name2=RRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.P421P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=122;refseq.start=43931946;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr21 43931990 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.384615;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1307T>C;refseq.codonCoord=436;refseq.end=43931990;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1421;refseq.name=NM_015056;refseq.name2=RRP1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L436P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=166;refseq.start=43931990;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chr21 44035726 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.201C>A;refseq.codonCoord=67;refseq.end=44035726;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=294;refseq.name=NM_003683;refseq.name2=RRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D67E;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=44035726;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr21 44041987 . T C 188.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.31;MQ0=0;OQ=1140.58;QD=14.62;RankSumP=0.327486;SB=-535.59;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.600T>C;refseq.codonCoord=200;refseq.end=44041987;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=693;refseq.name=NM_003683;refseq.name2=RRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I200I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-18;refseq.start=44041987;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr21 44042357 . T C 202.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.95;MQ0=0;OQ=1484.05;QD=16.31;RankSumP=0.346974;SB=-271.35;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.759T>C;refseq.codonCoord=253;refseq.end=44042357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=852;refseq.name=NM_003683;refseq.name2=RRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G253G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-53;refseq.start=44042357;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr21 44043952 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=17.93;MQ=98.23;MQ0=0;OQ=884.71;QD=13.61;RankSumP=0.328534;SB=-10.00;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.885T>C;refseq.codonCoord=295;refseq.end=44043952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_003683;refseq.name2=RRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V295V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=44043952;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr21 44044911 . A G 232.83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.88;MQ0=0;OQ=3843.36;QD=21.96;RankSumP=0.0676303;SB=-924.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.977A>G;refseq.codonCoord=326;refseq.end=44044911;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1070;refseq.name=NM_003683;refseq.name2=RRP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K326R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-13;refseq.start=44044911;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chr21 44353347 . G A 281.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=230;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=98.88;MQ0=0;OQ=9963.60;QD=43.32;RankSumP=1.00000;SB=-4818.07;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.73G>A;refseq.codonCoord=25;refseq.end=44353347;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=163;refseq.name=NM_005049;refseq.name2=PWP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D25N;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=55;refseq.start=44353347;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr21 44363075 . T C 304.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.50;MQ0=0;OQ=3572.80;QD=36.46;RankSumP=1.00000;SB=-1593.53;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.984T>C;refseq.codonCoord=328;refseq.end=44363075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1074;refseq.name=NM_005049;refseq.name2=PWP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I328I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=44363075;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/1 chr21 44365347 . A G 316.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=4.53;MQ=99.00;MQ0=0;OQ=7606.45;QD=37.66;RankSumP=1.00000;SB=-1962.79;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1572A>G;refseq.codonCoord=524;refseq.end=44365347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1662;refseq.name=NM_005049;refseq.name2=PWP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T524T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-65;refseq.start=44365347;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/1 chr21 44369022 . T C 221.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=9.39;MQ=98.86;MQ0=0;OQ=7002.28;QD=34.16;RankSumP=1.00000;SB=-3318.67;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1951T>C;refseq.codonCoord=651;refseq.end=44369022;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2041;refseq.name=NM_005049;refseq.name2=PWP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L651L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-15;refseq.start=44369022;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr21 44378024 . T C 33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=10.33;MQ=95.78;MQ0=0;OQ=983.11;QD=20.92;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.17T>C;refseq.codingCoordStr_2=c.17T>C;refseq.codonCoord_1=6;refseq.codonCoord_2=6;refseq.end_1=44378024;refseq.end_2=44378024;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=103;refseq.mrnaCoord_2=103;refseq.name2_1=C21orf33;refseq.name2_2=C21orf33;refseq.name_1=NM_004649;refseq.name_2=NM_198155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V6A;refseq.proteinCoordStr_2=p.V6A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.start_1=44378024;refseq.start_2=44378024;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr21 44389139 . C T 150.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.98;MQ0=0;OQ=2235.53;QD=16.08;RankSumP=0.412483;SB=-711.34;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.687C>T;refseq.codingCoordStr_2=c.594C>T;refseq.codonCoord_1=229;refseq.codonCoord_2=198;refseq.end_1=44389139;refseq.end_2=44389139;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=773;refseq.mrnaCoord_2=680;refseq.name2_1=C21orf33;refseq.name2_2=C21orf33;refseq.name_1=NM_004649;refseq.name_2=NM_198155;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H229H;refseq.proteinCoordStr_2=p.H198H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.start_1=44389139;refseq.start_2=44389139;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr21 44481202 . C T 172.74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=99.00;MQ0=0;OQ=1809.08;QD=18.84;RankSumP=0.0425599;SB=-550.13;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.382G>A;refseq.codonCoord=128;refseq.end=44481202;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_015259;refseq.name2=ICOSLG;refseq.positionType=CDS;refseq.proteinCoordStr=p.V128I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-25;refseq.start=44481202;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr21 44493352 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.980T>C;refseq.codingCoordStr_2=c.980T>C;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.end_1=44493352;refseq.end_2=44493352;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1464;refseq.mrnaCoord_2=1464;refseq.name2_1=DNMT3L;refseq.name2_2=DNMT3L;refseq.name_1=NM_013369;refseq.name_2=NM_175867;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I327T;refseq.proteinCoordStr_2=p.I327T;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=44493352;refseq.start_2=44493352;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr21 44532705 . C T 221.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=11.88;MQ=98.75;MQ0=0;OQ=2775.17;QD=15.00;RankSumP=0.459715;SB=-1009.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.588C>T;refseq.codonCoord=196;refseq.end=44532705;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=715;refseq.name=NM_000383;refseq.name2=AIRE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S196S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=50;refseq.start=44532705;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chr21 44537405 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=2.73;MQ=99.00;MQ0=0;OQ=416.40;QD=10.68;RankSumP=0.0170291;SB=-81.92;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1197T>C;refseq.codingCoordStr_2=c.606T>C;refseq.codonCoord_1=399;refseq.codonCoord_2=202;refseq.end_1=44537405;refseq.end_2=44537405;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1022;refseq.name2_1=AIRE;refseq.name2_2=AIRE;refseq.name_1=NM_000383;refseq.name_2=NM_000658;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A399A;refseq.proteinCoordStr_2=p.A202A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=44537405;refseq.start_2=44537405;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr21 44541978 . T C 212.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=98.21;MQ0=0;OQ=4630.14;QD=34.30;RankSumP=1.00000;SB=-1293.53;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1578T>C;refseq.codingCoordStr_2=c.987T>C;refseq.codonCoord_1=526;refseq.codonCoord_2=329;refseq.end_1=44541978;refseq.end_2=44541978;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1705;refseq.mrnaCoord_2=1403;refseq.name2_1=AIRE;refseq.name2_2=AIRE;refseq.name_1=NM_000383;refseq.name_2=NM_000658;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D526D;refseq.proteinCoordStr_2=p.D329D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=44541978;refseq.start_2=44541978;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chr21 44550143 . A G 92.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2311.97;QD=34.51;RankSumP=1.00000;SB=-956.91;SecondBestBaseQ=0;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.end_1=44550981;refseq.end_2=44550143;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=524;refseq.name2_1=PFKL;refseq.name2_2=PFKL;refseq.name_1=NM_002626;refseq.name_2=NR_024108;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=33;refseq.start_1=44544512;refseq.start_2=44550143;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=Intersection GT 1/1 chr21 44635771 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.26;MQ0=0;OQ=401.28;QD=10.85;RankSumP=0.575930;SB=2.04;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.1629T>G;refseq.codonCoord=543;refseq.end=44635771;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1729;refseq.name=NM_003307;refseq.name2=TRPM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D543E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-166;refseq.start=44635771;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr21 44643690 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2146A>C;refseq.codonCoord=716;refseq.end=44643690;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2246;refseq.name=NM_003307;refseq.name2=TRPM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T716P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-63;refseq.start=44643690;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr21 44669179 . A G 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=96.79;MQ0=0;OQ=1119.45;QD=27.99;RankSumP=1.00000;SB=-470.18;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3566A>G;refseq.codonCoord=1189;refseq.end=44669179;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3666;refseq.name=NM_003307;refseq.name2=TRPM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1189R;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=17;refseq.start=44669179;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=Intersection GT 1/1 chr21 44783740 . C T 197.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=83.59;MQ0=10;OQ=7305.19;QD=33.51;RankSumP=1.00000;SB=-1409.04;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.722G>A;refseq.codonCoord_2=241;refseq.end_1=44812086;refseq.end_2=44783740;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=767;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-1;refseq.name_1=NM_144991;refseq.name_2=NM_198691;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R241Q;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGG;refseq.spliceDist_2=-245;refseq.start_1=44778245;refseq.start_2=44783740;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gln;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chr21 44795240 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=661;Dels=0.00;HRun=0;HaplotypeScore=25.57;MQ=97.25;MQ0=1;OQ=22205.50;QD=33.59;RankSumP=1.00000;SB=-11044.36;SecondBestBaseQ=4;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.530C>T;refseq.codonCoord_2=177;refseq.end_1=44812086;refseq.end_2=44795240;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=577;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-2;refseq.name_1=NM_144991;refseq.name_2=NM_198693;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P177L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-495;refseq.start_1=44778245;refseq.start_2=44795240;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/1 chr21 44795509 . C T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.153575;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.261G>A;refseq.codonCoord_2=87;refseq.end_1=44812086;refseq.end_2=44795509;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=308;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-2;refseq.name_1=NM_144991;refseq.name_2=NM_198693;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P87P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=308;refseq.start_1=44778245;refseq.start_2=44795509;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=soap GT 0/1 chr21 44795537 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DP=467;Dels=0.00;HRun=1;HaplotypeScore=25.07;MQ=32.76;MQ0=273;OQ=579.62;QD=1.24;RankSumP=0.233031;SB=-103.44;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.233C>T;refseq.codonCoord_2=78;refseq.end_1=44812086;refseq.end_2=44795537;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=280;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-2;refseq.name_1=NM_144991;refseq.name_2=NM_198693;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S78L;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=280;refseq.start_1=44778245;refseq.start_2=44795537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=soap-filterIngatk GT 1/0 chr21 44795580 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=270;Dels=0.00;HRun=0;HaplotypeScore=19.33;MQ=36.51;MQ0=84;OQ=477.74;QD=1.77;RankSumP=0.324396;SB=22.55;SecondBestBaseQ=25;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.190C>T;refseq.codonCoord_2=64;refseq.end_1=44812086;refseq.end_2=44795580;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=237;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-2;refseq.name_1=NM_144991;refseq.name_2=NM_198693;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P64S;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=237;refseq.start_1=44778245;refseq.start_2=44795580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=Intersection GT 1/0 chr21 44795590 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=215;Dels=0.00;HRun=0;HaplotypeScore=13.61;MQ=35.35;MQ0=63;OQ=115.03;QD=0.54;RankSumP=0.241953;SB=26.11;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.180G>A;refseq.codonCoord_2=60;refseq.end_1=44812086;refseq.end_2=44795590;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=227;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-2;refseq.name_1=NM_144991;refseq.name_2=NM_198693;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A60A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=227;refseq.start_1=44778245;refseq.start_2=44795590;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr21 44802518 . C T 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=18.76;MQ=85.85;MQ0=2;OQ=5779.40;QD=31.24;RankSumP=1.00000;SB=-1519.67;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.509G>A;refseq.codonCoord_2=170;refseq.end_1=44812086;refseq.end_2=44802518;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=554;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-3;refseq.name_1=NM_144991;refseq.name_2=NM_198696;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C170Y;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=-185;refseq.start_1=44778245;refseq.start_2=44802518;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=Intersection GT 1/1 chr21 44802916 . G A 77.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=69.68;MQ0=9;OQ=1966.75;QD=29.80;RankSumP=1.00000;SB=-704.93;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.111C>T;refseq.codonCoord_2=37;refseq.end_1=44812086;refseq.end_2=44802916;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=156;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-3;refseq.name_1=NM_144991;refseq.name_2=NM_198696;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C37C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=156;refseq.start_1=44778245;refseq.start_2=44802916;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=filterInsoap-gatk GT 1/1 chr21 44802927 . T G 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=79.91;MQ0=3;OQ=2324.63;QD=33.21;RankSumP=1.00000;SB=-753.27;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.100A>C;refseq.codonCoord_2=34;refseq.end_1=44812086;refseq.end_2=44802927;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=145;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-3;refseq.name_1=NM_144991;refseq.name_2=NM_198696;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T34P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=145;refseq.start_1=44778245;refseq.start_2=44802927;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 1/1 chr21 44802931 . G A 265.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=81.87;MQ0=3;OQ=2590.70;QD=36.49;RankSumP=0.470588;SB=-747.50;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.96C>T;refseq.codonCoord_2=32;refseq.end_1=44812086;refseq.end_2=44802931;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=141;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-3;refseq.name_1=NM_144991;refseq.name_2=NM_198696;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C32C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=141;refseq.start_1=44778245;refseq.start_2=44802931;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=filterInsoap-gatk GT 1/0 chr21 44818442 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=0;RankSumP=0.131042;SecondBestBaseQ=22;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.379C>T;refseq.codonCoord_2=127;refseq.end_1=44955765;refseq.end_2=44818442;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=409;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-4;refseq.name_1=NM_144991;refseq.name_2=NM_198687;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P127S;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=409;refseq.start_1=44812328;refseq.start_2=44818442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=soap GT 0/1 chr21 44835726 . G A 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.700000;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.1068C>T;refseq.codonCoord_2=356;refseq.end_1=44955765;refseq.end_2=44835726;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1089;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S356S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-150;refseq.start_1=44812328;refseq.start_2=44835726;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=FilteredInAll GT 1/0 chr21 44835752 . T C 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.183838;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.1042A>G;refseq.codonCoord_2=348;refseq.end_1=44955765;refseq.end_2=44835752;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1063;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M348V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-176;refseq.start_1=44812328;refseq.start_2=44835752;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=FilteredInAll GT 1/0 chr21 44835773 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00357143;SecondBestBaseQ=21;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.1021G>T;refseq.codonCoord_2=341;refseq.end_1=44955765;refseq.end_2=44835773;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1042;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V341F;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=-197;refseq.start_1=44812328;refseq.start_2=44835773;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chr21 44835825 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.0967063;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.969T>C;refseq.codonCoord_2=323;refseq.end_1=44955765;refseq.end_2=44835825;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=990;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C323C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=-249;refseq.start_1=44812328;refseq.start_2=44835825;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap GT 0/1 chr21 44835828 . G A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.0919074;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.966C>T;refseq.codonCoord_2=322;refseq.end_1=44955765;refseq.end_2=44835828;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=987;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S322S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-252;refseq.start_1=44812328;refseq.start_2=44835828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=FilteredInAll GT 1/0 chr21 44835896 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=413;Dels=0.00;HRun=0;HaplotypeScore=12.16;MQ=54.58;MQ0=104;OQ=4746.79;QD=11.49;RankSumP=0.00366235;SB=-919.97;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.898C>T;refseq.codonCoord_2=300;refseq.end_1=44955765;refseq.end_2=44835896;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=919;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P300S;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCC;refseq.spliceDist_2=-320;refseq.start_1=44812328;refseq.start_2=44835896;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=filterInsoap-gatk GT 1/0 chr21 44836173 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=642;Dels=0.00;HRun=0;HaplotypeScore=51.20;MQ=70.70;MQ0=53;OQ=11331.43;QD=17.65;RankSumP=0.0876464;SB=-1819.49;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.621G>A;refseq.codonCoord_2=207;refseq.end_1=44955765;refseq.end_2=44836173;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=642;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S207S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCG;refseq.spliceDist_2=-597;refseq.start_1=44812328;refseq.start_2=44836173;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr21 44836179 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=607;Dels=0.00;HRun=0;HaplotypeScore=49.35;MQ=70.09;MQ0=52;OQ=10032.31;QD=16.53;RankSumP=0.146986;SB=-1351.03;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.615G>A;refseq.codonCoord_2=205;refseq.end_1=44955765;refseq.end_2=44836179;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=636;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T205T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_2=-603;refseq.start_1=44812328;refseq.start_2=44836179;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr21 44836307 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.0415250;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.487C>A;refseq.codonCoord_2=163;refseq.end_1=44955765;refseq.end_2=44836307;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=508;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P163T;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=508;refseq.start_1=44812328;refseq.start_2=44836307;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACT;set=FilteredInAll GT 0/1 chr21 44836319 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.555285;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.475G>A;refseq.codonCoord_2=159;refseq.end_1=44955765;refseq.end_2=44836319;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=496;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V159I;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=496;refseq.start_1=44812328;refseq.start_2=44836319;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=soap GT 0/1 chr21 44836326 . A G 12 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.228437;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.468T>C;refseq.codonCoord_2=156;refseq.end_1=44955765;refseq.end_2=44836326;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=489;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C156C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=489;refseq.start_1=44812328;refseq.start_2=44836326;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT 0/1 chr21 44836415 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=2;RankSumP=0.0701585;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.379T>C;refseq.codonCoord_2=127;refseq.end_1=44955765;refseq.end_2=44836415;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=400;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S127P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=400;refseq.start_1=44812328;refseq.start_2=44836415;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap GT 0/1 chr21 44836463 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.000390303;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.331G>A;refseq.codonCoord_2=111;refseq.end_1=44955765;refseq.end_2=44836463;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=352;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V111M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=352;refseq.start_1=44812328;refseq.start_2=44836463;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=FilteredInAll GT 0/1 chr21 44836464 . G A 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.161358;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.330C>T;refseq.codonCoord_2=110;refseq.end_1=44955765;refseq.end_2=44836464;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=351;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C110C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=351;refseq.start_1=44812328;refseq.start_2=44836464;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=FilteredInAll GT 1/0 chr21 44836578 . A G 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.709790;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.216T>C;refseq.codonCoord_2=72;refseq.end_1=44955765;refseq.end_2=44836578;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=237;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C72C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=237;refseq.start_1=44812328;refseq.start_2=44836578;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap GT 0/1 chr21 44836609 . C T 51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DP=212;Dels=0.00;HRun=0;HaplotypeScore=11.49;MQ=20.41;MQ0=178;OQ=250.24;QD=1.18;RankSumP=0.546953;SB=-79.86;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.185G>A;refseq.codonCoord_2=62;refseq.end_1=44955765;refseq.end_2=44836609;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=206;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R62H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=206;refseq.start_1=44812328;refseq.start_2=44836609;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr21 44836610 . G A 40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=11.49;MQ=20.60;MQ0=174;OQ=252.56;QD=1.21;RankSumP=0.0269730;SB=-79.50;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.184C>T;refseq.codonCoord_2=62;refseq.end_1=44955765;refseq.end_2=44836610;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=205;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R62C;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_2=205;refseq.start_1=44812328;refseq.start_2=44836610;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 1/0 chr21 44836668 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=6.35;MQ=39.86;MQ0=100;OQ=378.03;QD=2.45;RankSumP=0.634568;SB=-110.60;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.126T>C;refseq.codonCoord_2=42;refseq.end_1=44955765;refseq.end_2=44836668;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=147;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C42C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=147;refseq.start_1=44812328;refseq.start_2=44836668;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr21 44836747 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.47G>C;refseq.codonCoord_2=16;refseq.end_1=44955765;refseq.end_2=44836747;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=68;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-6;refseq.name_1=NM_144991;refseq.name_2=NM_198688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G16A;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_2=68;refseq.start_1=44812328;refseq.start_2=44836747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chr21 44856522 . A G 195.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=585;Dels=0.00;HRun=0;HaplotypeScore=15.98;MQ=98.71;MQ0=0;OQ=9097.55;QD=15.55;RankSumP=0.177309;SB=-2917.32;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.77A>G;refseq.codonCoord_2=26;refseq.end_1=44955765;refseq.end_2=44856522;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=99;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-8;refseq.name_1=NM_144991;refseq.name_2=NM_198695;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H26R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=99;refseq.start_1=44812328;refseq.start_2=44856522;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr21 44856563 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.118T>C;refseq.codonCoord_2=40;refseq.end_1=44955765;refseq.end_2=44856563;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=140;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-8;refseq.name_1=NM_144991;refseq.name_2=NM_198695;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S40P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=140;refseq.start_1=44812328;refseq.start_2=44856563;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr21 44871846 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=633;Dels=0.00;HRun=0;HaplotypeScore=20.87;MQ=66.15;MQ0=134;OQ=7949.39;QD=12.56;RankSumP=0.256162;SB=-2277.90;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.330C>T;refseq.codonCoord_2=110;refseq.end_1=44955765;refseq.end_2=44871846;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=379;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-9;refseq.name_1=NM_144991;refseq.name_2=NM_198690;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C110C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=379;refseq.start_1=44812328;refseq.start_2=44871846;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr21 44872061 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1401;Dels=0.00;HRun=0;HaplotypeScore=38.43;MQ=97.26;MQ0=1;OQ=26072.87;QD=18.61;RankSumP=0.218635;SB=-10483.32;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.545A>G;refseq.codonCoord_2=182;refseq.end_1=44955765;refseq.end_2=44872061;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=594;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-9;refseq.name_1=NM_144991;refseq.name_2=NM_198690;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Y182C;refseq.referenceAA_2=Tyr;refseq.referenceCodon_2=TAC;refseq.spliceDist_2=594;refseq.start_1=44812328;refseq.start_2=44872061;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=soap-filterIngatk GT 0/1 chr21 44872138 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1169;Dels=0.00;HRun=0;HaplotypeScore=45.10;MQ=90.79;MQ0=11;OQ=18819.89;QD=16.10;RankSumP=0.265170;SB=-7284.52;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.622T>C;refseq.codonCoord_2=208;refseq.end_1=44955765;refseq.end_2=44872138;refseq.frame_2=0;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=671;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-9;refseq.name_1=NM_144991;refseq.name_2=NM_198690;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L208L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=TTG;refseq.spliceDist_2=-586;refseq.start_1=44812328;refseq.start_2=44872138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=Intersection GT 1/0 chr21 44872285 . C T 100.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=13.85;MQ=94.23;MQ0=0;OQ=2367.92;QD=14.44;RankSumP=0.0315337;SB=-1095.55;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.769C>T;refseq.codonCoord_2=257;refseq.end_1=44955765;refseq.end_2=44872285;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=818;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-9;refseq.name_1=NM_144991;refseq.name_2=NM_198690;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R257C;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-439;refseq.start_1=44812328;refseq.start_2=44872285;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr21 44872353 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=96.87;MQ0=0;OQ=2960.51;QD=13.04;RankSumP=0.109900;SB=-1394.83;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.837G>T;refseq.codonCoord_2=279;refseq.end_1=44955765;refseq.end_2=44872353;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=886;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-9;refseq.name_1=NM_144991;refseq.name_2=NM_198690;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P279P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-371;refseq.start_1=44812328;refseq.start_2=44872353;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr21 44881821 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=97.28;MQ0=0;OQ=965.12;QD=9.02;RankSumP=0.235699;SB=-395.27;SecondBestBaseQ=25;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.59T>A;refseq.codonCoord_2=20;refseq.end_1=44955765;refseq.end_2=44881821;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=121;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V20D;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=121;refseq.start_1=44812328;refseq.start_2=44881821;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/0 chr21 44881976 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=410;Dels=0.00;HRun=4;HaplotypeScore=27.78;MQ=96.29;MQ0=0;OQ=6809.64;QD=16.61;RankSumP=0.149325;SB=-2050.24;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.214A>C;refseq.codonCoord_2=72;refseq.end_1=44955765;refseq.end_2=44881976;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=276;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T72P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=276;refseq.start_1=44812328;refseq.start_2=44881976;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr21 44882053 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.0301915;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.291T>C;refseq.codonCoord_2=97;refseq.end_1=44955765;refseq.end_2=44882053;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=353;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P97P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_2=353;refseq.start_1=44812328;refseq.start_2=44882053;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr21 44882062 . T C 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.00417328;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.300T>C;refseq.codonCoord_2=100;refseq.end_1=44955765;refseq.end_2=44882062;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=362;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C100C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGT;refseq.spliceDist_2=362;refseq.start_1=44812328;refseq.start_2=44882062;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=FilteredInAll GT 1/0 chr21 44882234 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1523;Dels=0.00;HRun=0;HaplotypeScore=64.66;MQ=97.15;MQ0=0;OQ=25369.94;QD=16.66;RankSumP=0.158298;SB=-9834.00;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.472G>A;refseq.codonCoord_2=158;refseq.end_1=44955765;refseq.end_2=44882234;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=534;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V158M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=534;refseq.start_1=44812328;refseq.start_2=44882234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=soap-filterIngatk GT 1/0 chr21 44882386 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=17.49;MQ=50.31;MQ0=55;OQ=2334.80;QD=8.52;RankSumP=0.155965;SB=-971.42;SecondBestBaseQ=29;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.624C>T;refseq.codonCoord_2=208;refseq.end_1=44955765;refseq.end_2=44882386;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=686;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S208S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-415;refseq.start_1=44812328;refseq.start_2=44882386;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCT;set=Intersection GT 0/1 chr21 44882462 . G A 7 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.700000;SecondBestBaseQ=31;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.700G>A;refseq.codonCoord_2=234;refseq.end_1=44955765;refseq.end_2=44882462;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=762;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V234M;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=-339;refseq.start_1=44812328;refseq.start_2=44882462;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=FilteredInAll GT 1/0 chr21 44882488 rs13051517 C T 0.45 PASS AC=1;AF=0.50;AN=2;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=24.85;MQ0=72;OQ=1167.23;QD=6.67;SB=-586.03;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.726C>T;refseq.codonCoord_2=242;refseq.end_1=44955765;refseq.end_2=44882488;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=788;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-10;refseq.name_1=NM_144991;refseq.name_2=NM_181688;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S242S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_2=-313;refseq.start_1=44812328;refseq.start_2=44882488;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=gatk GT:AD:DP:GL:GQ 0/1:95,79:72:-141.69,-21.68,-161.12:99 chr21 44891192 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=524;Dels=0.00;HRun=1;HaplotypeScore=29.73;MQ=91.81;MQ0=3;OQ=8306.52;QD=15.85;RankSumP=0.457629;SB=-3266.82;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.389C>T;refseq.codonCoord_2=130;refseq.end_1=44955765;refseq.end_2=44891192;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=434;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-11;refseq.name_1=NM_144991;refseq.name_2=NM_198692;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S130F;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=434;refseq.start_1=44812328;refseq.start_2=44891192;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=Intersection GT 0/1 chr21 44891587 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.784T>C;refseq.codonCoord_2=262;refseq.end_1=44955765;refseq.end_2=44891587;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=829;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-11;refseq.name_1=NM_144991;refseq.name_2=NM_198692;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S262P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=-408;refseq.start_1=44812328;refseq.start_2=44891587;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr21 44891608 . C T 111.13 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=92.41;MQ0=0;OQ=3050.38;QD=33.16;RankSumP=1.00000;SB=-1413.31;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.805C>T;refseq.codonCoord_2=269;refseq.end_1=44955765;refseq.end_2=44891608;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=850;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-11;refseq.name_1=NM_144991;refseq.name_2=NM_198692;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R269C;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=-387;refseq.start_1=44812328;refseq.start_2=44891608;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr21 44891612 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=92;Dels=0.00;HRun=0;HaplotypeScore=6.61;MQ=93.88;MQ0=0;OQ=1023.16;QD=11.12;RankSumP=0.000212795;SB=-378.29;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.809C>T;refseq.codonCoord_2=270;refseq.end_1=44955765;refseq.end_2=44891612;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=854;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP10-11;refseq.name_1=NM_144991;refseq.name_2=NM_198692;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P270L;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_2=-383;refseq.start_1=44812328;refseq.start_2=44891612;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTG;set=filterInsoap-gatk GT 0/1 chr21 44898630 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.55;MQ0=0;OQ=152.51;QD=8.03;RankSumP=0.663908;SB=-46.68;SecondBestBaseQ=23;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.330T>C;refseq.codonCoord_2=110;refseq.end_1=44955765;refseq.end_2=44898630;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=375;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-4;refseq.name_1=NM_144991;refseq.name_2=NM_198698;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T110T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=-73;refseq.start_1=44812328;refseq.start_2=44898630;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 0/1 chr21 44898950 . T G 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.0175871;SecondBestBaseQ=20;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.10A>C;refseq.codonCoord_2=4;refseq.end_1=44955765;refseq.end_2=44898950;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=55;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-4;refseq.name_1=NM_144991;refseq.name_2=NM_198698;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T4P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=55;refseq.start_1=44812328;refseq.start_2=44898950;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=soap GT 1/0 chr21 44898952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00549167;SecondBestBaseQ=16;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.8A>C;refseq.codonCoord_2=3;refseq.end_1=44955765;refseq.end_2=44898952;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=53;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-4;refseq.name_1=NM_144991;refseq.name_2=NM_198698;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H3P;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=53;refseq.start_1=44812328;refseq.start_2=44898952;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr21 44902374 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=99.00;MQ0=0;OQ=715.76;QD=10.37;RankSumP=0.139751;SB=-102.96;SecondBestBaseQ=25;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.50A>G;refseq.codonCoord_2=17;refseq.end_1=44955765;refseq.end_2=44902374;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=98;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-3;refseq.name_1=NM_144991;refseq.name_2=NM_198697;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H17R;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=98;refseq.start_1=44812328;refseq.start_2=44902374;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr21 44910805 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=93.69;MQ0=1;OQ=452.92;QD=13.32;RankSumP=0.620693;SB=-187.32;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.427T>C;refseq.codonCoord_2=143;refseq.end_1=44955765;refseq.end_2=44910805;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=468;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-2;refseq.name_1=NM_144991;refseq.name_2=NM_181684;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S143P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_2=-272;refseq.start_1=44812328;refseq.start_2=44910805;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCT;set=Intersection GT 0/1 chr21 44911146 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=93.44;MQ0=0;OQ=756.12;QD=14.54;RankSumP=0.288713;SB=-87.91;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.86C>G;refseq.codonCoord_2=29;refseq.end_1=44955765;refseq.end_2=44911146;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=127;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-2;refseq.name_1=NM_144991;refseq.name_2=NM_181684;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S29C;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=127;refseq.start_1=44812328;refseq.start_2=44911146;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr21 44911147 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=93.44;MQ0=0;OQ=692.58;QD=13.32;RankSumP=0.445133;SB=-94.83;SecondBestBaseQ=27;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.85T>C;refseq.codonCoord_2=29;refseq.end_1=44955765;refseq.end_2=44911147;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=126;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-2;refseq.name_1=NM_144991;refseq.name_2=NM_181684;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S29P;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCC;refseq.spliceDist_2=126;refseq.start_1=44812328;refseq.start_2=44911147;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=Intersection GT 0/1 chr21 44911185 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=83.87;MQ0=0;OQ=474.17;QD=20.62;RankSumP=0.651460;SB=-157.61;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.47C>T;refseq.codonCoord_2=16;refseq.end_1=44955765;refseq.end_2=44911185;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=88;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-2;refseq.name_1=NM_144991;refseq.name_2=NM_181684;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A16V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=88;refseq.start_1=44812328;refseq.start_2=44911185;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 1/0 chr21 44911186 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=83.87;MQ0=0;OQ=483.86;QD=21.04;RankSumP=0.582051;SB=-156.16;SecondBestBaseQ=26;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.46G>A;refseq.codonCoord_2=16;refseq.end_1=44955765;refseq.end_2=44911186;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=87;refseq.name2_1=C21orf29;refseq.name2_2=KRTAP12-2;refseq.name_1=NM_144991;refseq.name_2=NM_181684;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A16T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=87;refseq.start_1=44812328;refseq.start_2=44911186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr21 45100542 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.443A>G;refseq.codonCoord=148;refseq.end=45100542;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_004339;refseq.name2=PTTG1IP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E148G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=45100542;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr21 45136241 . A G 134.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=221;Dels=0.00;HRun=1;HaplotypeScore=11.82;MQ=98.65;MQ0=0;OQ=4106.02;QD=18.58;RankSumP=0.471768;SB=-1511.55;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1323T>C;refseq.codingCoordStr_2=c.1323T>C;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.end_1=45136241;refseq.end_2=45136241;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1556;refseq.mrnaCoord_2=1511;refseq.name2_1=ITGB2;refseq.name2_2=ITGB2;refseq.name_1=NM_000211;refseq.name_2=NM_001127491;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V441V;refseq.proteinCoordStr_2=p.V441V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-90;refseq.spliceDist_2=-90;refseq.start_1=45136241;refseq.start_2=45136241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr21 45139335 . T A 379.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=306;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.88;MQ0=0;OQ=12365.64;QD=40.41;RankSumP=1.00000;SB=-3485.42;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.1062A>T;refseq.codingCoordStr_2=c.1062A>T;refseq.codonCoord_1=354;refseq.codonCoord_2=354;refseq.end_1=45139335;refseq.end_2=45139335;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1295;refseq.mrnaCoord_2=1250;refseq.name2_1=ITGB2;refseq.name2_2=ITGB2;refseq.name_1=NM_000211;refseq.name_2=NM_001127491;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q354H;refseq.proteinCoordStr_2=p.Q354H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=45139335;refseq.start_2=45139335;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr21 45155102 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=8.96;MQ=98.35;MQ0=0;OQ=2910.17;QD=17.22;RankSumP=0.407409;SB=-1004.81;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.24G>T;refseq.codingCoordStr_2=c.24G>T;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=45155102;refseq.end_2=45155102;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=257;refseq.mrnaCoord_2=212;refseq.name2_1=ITGB2;refseq.name2_2=ITGB2;refseq.name_1=NM_000211;refseq.name_2=NM_001127491;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L8L;refseq.proteinCoordStr_2=p.L8L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=45155102;refseq.start_2=45155102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/0 chr21 45211506 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=87.26;MQ0=0;OQ=341.05;QD=9.74;RankSumP=0.594280;SB=-129.44;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.482G>T;refseq.codonCoord=161;refseq.end=45211506;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=500;refseq.name=NM_058190;refseq.name2=C21orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.S161I;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-19;refseq.start=45211506;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr21 45221087 . G C 69 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=93.06;MQ0=0;OQ=416.35;QD=29.74;RankSumP=0.736264;SB=-93.91;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.634G>C;refseq.codonCoord=212;refseq.end=45221087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=652;refseq.name=NM_058190;refseq.name2=C21orf70;refseq.positionType=CDS;refseq.proteinCoordStr=p.V212L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=65;refseq.start=45221087;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr21 45466396 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=320;Dels=0.00;HRun=2;HaplotypeScore=9.15;MQ=98.56;MQ0=0;OQ=4452.32;QD=13.91;RankSumP=0.393067;SB=-1348.72;SecondBestBaseQ=31;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.chr_5=chr21;refseq.chr_6=chr21;refseq.chr_7=chr21;refseq.codingCoordStr_4=c.1962G>A;refseq.codingCoordStr_5=c.1962G>A;refseq.codingCoordStr_6=c.2082G>A;refseq.codingCoordStr_7=c.2082G>A;refseq.codonCoord_4=654;refseq.codonCoord_5=654;refseq.codonCoord_6=694;refseq.codonCoord_7=694;refseq.end_1=45466396;refseq.end_2=45466396;refseq.end_3=45466396;refseq.end_4=45466396;refseq.end_5=45466396;refseq.end_6=45466396;refseq.end_7=45466396;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=1462;refseq.mrnaCoord_2=2515;refseq.mrnaCoord_3=2397;refseq.mrnaCoord_4=2397;refseq.mrnaCoord_5=2397;refseq.mrnaCoord_6=2517;refseq.mrnaCoord_7=2517;refseq.name2_1=ADARB1;refseq.name2_2=ADARB1;refseq.name2_3=ADARB1;refseq.name2_4=ADARB1;refseq.name2_5=ADARB1;refseq.name2_6=ADARB1;refseq.name2_7=ADARB1;refseq.name_1=NR_027672;refseq.name_2=NR_027673;refseq.name_3=NR_027674;refseq.name_4=NM_001112;refseq.name_5=NM_001160230;refseq.name_6=NM_015833;refseq.name_7=NM_015834;refseq.numMatchingRecords=7;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_4=p.K654K;refseq.proteinCoordStr_5=p.K654K;refseq.proteinCoordStr_6=p.K694K;refseq.proteinCoordStr_7=p.K694K;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceAA_7=Lys;refseq.referenceCodon_4=AAG;refseq.referenceCodon_5=AAG;refseq.referenceCodon_6=AAG;refseq.referenceCodon_7=AAG;refseq.spliceDist_1=36;refseq.spliceDist_2=36;refseq.spliceDist_3=36;refseq.spliceDist_4=36;refseq.spliceDist_5=36;refseq.spliceDist_6=36;refseq.spliceDist_7=36;refseq.start_1=45466396;refseq.start_2=45466396;refseq.start_3=45466396;refseq.start_4=45466396;refseq.start_5=45466396;refseq.start_6=45466396;refseq.start_7=45466396;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantAA_7=Lys;refseq.variantCodon_4=AAA;refseq.variantCodon_5=AAA;refseq.variantCodon_6=AAA;refseq.variantCodon_7=AAA;set=Intersection GT 1/0 chr21 45530049 . G A 250.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=161;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=98.63;MQ0=0;OQ=2399.26;QD=14.90;RankSumP=0.291277;SB=-957.84;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.354C>T;refseq.codingCoordStr_3=c.354C>T;refseq.codonCoord_2=118;refseq.codonCoord_3=118;refseq.end_1=45530049;refseq.end_2=45530049;refseq.end_3=45530049;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=379;refseq.mrnaCoord_2=379;refseq.mrnaCoord_3=379;refseq.name2_1=POFUT2;refseq.name2_2=POFUT2;refseq.name2_3=POFUT2;refseq.name_1=NR_004858;refseq.name_2=NM_015227;refseq.name_3=NM_133635;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P118P;refseq.proteinCoordStr_3=p.P118P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.start_1=45530049;refseq.start_2=45530049;refseq.start_3=45530049;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 1/0 chr21 45699992 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=18.54;MQ=98.16;MQ0=0;OQ=6162.24;QD=29.34;RankSumP=1.00000;SB=-745.06;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.120T>C;refseq.codingCoordStr_3=c.120T>C;refseq.codonCoord_2=40;refseq.codonCoord_3=40;refseq.end_1=45712573;refseq.end_2=45699992;refseq.end_3=45699992;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=141;refseq.mrnaCoord_3=141;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_130445;refseq.name_2=NM_030582;refseq.name_3=NM_130444;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H40H;refseq.proteinCoordStr_3=p.H40H;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_2=141;refseq.spliceDist_3=141;refseq.start_1=45649827;refseq.start_2=45699992;refseq.start_3=45699992;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;set=Intersection GT 1/1 chr21 45700511 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=97.30;MQ0=0;OQ=824.25;QD=10.18;RankSumP=0.309141;SB=-322.26;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_2=c.639A>G;refseq.codingCoordStr_3=c.639A>G;refseq.codonCoord_2=213;refseq.codonCoord_3=213;refseq.end_1=45712573;refseq.end_2=45700511;refseq.end_3=45700511;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=660;refseq.mrnaCoord_3=660;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_130445;refseq.name_2=NM_030582;refseq.name_3=NM_130444;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P213P;refseq.proteinCoordStr_3=p.P213P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_2=-8;refseq.spliceDist_3=660;refseq.spliceInfo_2=splice-donor_-8;refseq.start_1=45649827;refseq.start_2=45700511;refseq.start_3=45700511;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 0/1 chr21 45712990 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1053T>G;refseq.codingCoordStr_2=c.1758T>G;refseq.codingCoordStr_3=c.513T>G;refseq.codonCoord_1=351;refseq.codonCoord_2=586;refseq.codonCoord_3=171;refseq.end_1=45712990;refseq.end_2=45712990;refseq.end_3=45712990;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1074;refseq.mrnaCoord_2=1779;refseq.mrnaCoord_3=562;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_030582;refseq.name_2=NM_130444;refseq.name_3=NM_130445;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G351G;refseq.proteinCoordStr_2=p.G586G;refseq.proteinCoordStr_3=p.G171G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.referenceCodon_3=GGT;refseq.spliceDist_1=-139;refseq.spliceDist_2=-139;refseq.spliceDist_3=-139;refseq.start_1=45712990;refseq.start_2=45712990;refseq.start_3=45712990;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr21 45722671 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=243;Dels=0.00;HRun=3;HaplotypeScore=18.87;MQ=98.54;MQ0=0;OQ=3198.93;QD=13.16;RankSumP=0.281249;SB=-1340.19;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1764C>G;refseq.codingCoordStr_2=c.2469C>G;refseq.codingCoordStr_3=c.1224C>G;refseq.codonCoord_1=588;refseq.codonCoord_2=823;refseq.codonCoord_3=408;refseq.end_1=45722671;refseq.end_2=45722671;refseq.end_3=45722671;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1785;refseq.mrnaCoord_2=2490;refseq.mrnaCoord_3=1273;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_030582;refseq.name_2=NM_130444;refseq.name_3=NM_130445;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G588G;refseq.proteinCoordStr_2=p.G823G;refseq.proteinCoordStr_3=p.G408G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.start_1=45722671;refseq.start_2=45722671;refseq.start_3=45722671;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=Intersection GT 1/0 chr21 45732783 . T C 170.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=518.65;QD=16.73;RankSumP=0.474194;SB=-212.98;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.2460T>C;refseq.codingCoordStr_2=c.3165T>C;refseq.codingCoordStr_3=c.1920T>C;refseq.codonCoord_1=820;refseq.codonCoord_2=1055;refseq.codonCoord_3=640;refseq.end_1=45732783;refseq.end_2=45732783;refseq.end_3=45732783;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2481;refseq.mrnaCoord_2=3186;refseq.mrnaCoord_3=1969;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_030582;refseq.name_2=NM_130444;refseq.name_3=NM_130445;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L820L;refseq.proteinCoordStr_2=p.L1055L;refseq.proteinCoordStr_3=p.L640L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.referenceCodon_3=CTT;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=45732783;refseq.start_2=45732783;refseq.start_3=45732783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 1/0 chr21 45748862 . A C 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=6;RankSumP=0.666667;SecondBestBaseQ=18;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.3365-2;refseq.codingCoordStr_2=c.4070-2;refseq.codingCoordStr_3=c.2825-2;refseq.end_1=45748862;refseq.end_2=45748862;refseq.end_3=45748862;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_030582;refseq.name_2=NM_130444;refseq.name_3=NM_130445;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.spliceInfo_3=splice-acceptor_-2;refseq.start_1=45748862;refseq.start_2=45748862;refseq.start_3=45748862;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=FilteredInAll GT 0/1 chr21 45753895 . G A 80.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=92.50;MQ0=0;OQ=107.53;QD=13.44;RankSumP=0.571429;SB=-80.08;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.3978G>A;refseq.codingCoordStr_2=c.4683G>A;refseq.codingCoordStr_3=c.3438G>A;refseq.codonCoord_1=1326;refseq.codonCoord_2=1561;refseq.codonCoord_3=1146;refseq.end_1=45753895;refseq.end_2=45753895;refseq.end_3=45753895;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3999;refseq.mrnaCoord_2=4704;refseq.mrnaCoord_3=3487;refseq.name2_1=COL18A1;refseq.name2_2=COL18A1;refseq.name2_3=COL18A1;refseq.name_1=NM_030582;refseq.name_2=NM_130444;refseq.name_3=NM_130445;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1326A;refseq.proteinCoordStr_2=p.A1561A;refseq.proteinCoordStr_3=p.A1146A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=45753895;refseq.start_2=45753895;refseq.start_3=45753895;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/0 chr21 45775984 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=3.38;MQ=97.85;MQ0=0;OQ=1031.00;QD=15.16;RankSumP=0.392306;SB=-533.24;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.696T>C;refseq.codonCoord=232;refseq.end=45775984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_194255;refseq.name2=SLC19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P232P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-254;refseq.start=45775984;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr21 45782222 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=99.00;MQ0=0;OQ=575.92;QD=12.25;RankSumP=0.106768;SB=-216.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.80A>G;refseq.codonCoord=27;refseq.end=45782222;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_194255;refseq.name2=SLC19A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H27R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-110;refseq.start=45782222;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/0 chr21 46153780 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=98.30;MQ0=0;OQ=1435.68;QD=11.13;RankSumP=0.0771118;SB=-515.53;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.423T>C;refseq.codingCoordStr_2=c.423T>C;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.end_1=46153780;refseq.end_2=46153780;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=548;refseq.mrnaCoord_2=548;refseq.name2_1=PCBP3;refseq.name2_2=PCBP3;refseq.name_1=NM_001130141;refseq.name_2=NM_020528;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C141C;refseq.proteinCoordStr_2=p.C141C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.start_1=46153780;refseq.start_2=46153780;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chr21 46235359 . T C 349.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.65;MQ0=0;OQ=5391.14;QD=38.24;RankSumP=1.00000;SB=-2662.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1095T>C;refseq.codonCoord=365;refseq.end=46235359;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1197;refseq.name=NM_001848;refseq.name2=COL6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G365G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-25;refseq.start=46235359;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chr21 46247817 . G A 212.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=96.16;MQ0=0;OQ=1922.55;QD=32.04;RankSumP=1.00000;SB=-895.70;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2549G>A;refseq.codonCoord=850;refseq.end=46247817;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2651;refseq.name=NM_001848;refseq.name2=COL6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R850H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=85;refseq.start=46247817;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr21 46247935 . G A 134.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=97.86;MQ0=0;OQ=2225.59;QD=31.35;RankSumP=1.00000;SB=-842.09;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2667G>A;refseq.codonCoord=889;refseq.end=46247935;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2769;refseq.name=NM_001848;refseq.name2=COL6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A889A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=203;refseq.start=46247935;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr21 46248064 . C T 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.14;MQ0=0;OQ=1880.59;QD=29.38;RankSumP=1.00000;SB=-782.51;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2796C>T;refseq.codonCoord=932;refseq.end=46248064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2898;refseq.name=NM_001848;refseq.name2=COL6A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S932S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=332;refseq.start=46248064;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chr21 46363388 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.67;MQ0=0;OQ=668.79;QD=11.73;RankSumP=0.130826;SB=-321.75;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.codingCoordStr_1=c.1196G>A;refseq.codingCoordStr_2=c.1196G>A;refseq.codingCoordStr_3=c.1196G>A;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.codonCoord_3=399;refseq.end_1=46363388;refseq.end_2=46363388;refseq.end_3=46363388;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1278;refseq.mrnaCoord_2=1278;refseq.mrnaCoord_3=1278;refseq.name2_1=COL6A2;refseq.name2_2=COL6A2;refseq.name2_3=COL6A2;refseq.name_1=NM_001849;refseq.name_2=NM_058174;refseq.name_3=NM_058175;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S399N;refseq.proteinCoordStr_2=p.S399N;refseq.proteinCoordStr_3=p.S399N;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=46363388;refseq.start_2=46363388;refseq.start_3=46363388;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;set=Intersection GT 1/0 chr21 46376369 . T G 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=5.02648e-06;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2535T>G;refseq.codonCoord=845;refseq.end=46376369;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2617;refseq.name=NM_001849;refseq.name2=COL6A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G845G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=74;refseq.start=46376369;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr21 46376531 . G T 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.13;MQ0=0;OQ=230.47;QD=12.13;RankSumP=0.0272636;SB=-68.72;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2697G>T;refseq.codonCoord=899;refseq.end=46376531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2779;refseq.name=NM_001849;refseq.name2=COL6A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T899T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=236;refseq.start=46376531;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr21 46376558 . A G 103.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=97.21;MQ0=0;OQ=502.75;QD=13.59;RankSumP=0.663703;SB=-194.34;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2724A>G;refseq.codonCoord=908;refseq.end=46376558;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2806;refseq.name=NM_001849;refseq.name2=COL6A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T908T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=263;refseq.start=46376558;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chr21 46376813 . C T 196.12 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=98.71;MQ0=0;OQ=2163.71;QD=16.52;RankSumP=0.0976601;SB=-836.87;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2979C>T;refseq.codonCoord=993;refseq.end=46376813;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3061;refseq.name=NM_001849;refseq.name2=COL6A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R993R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-379;refseq.start=46376813;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr21 46438897 . A C 396.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=98.41;MQ0=0;OQ=3812.28;QD=35.30;RankSumP=1.00000;SB=-1356.80;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.1924T>G;refseq.codingCoordStr_2=c.1891T>G;refseq.codingCoordStr_3=c.1684T>G;refseq.codingCoordStr_4=c.1924T>G;refseq.codonCoord_1=642;refseq.codonCoord_2=631;refseq.codonCoord_3=562;refseq.codonCoord_4=642;refseq.end_1=46438897;refseq.end_2=46438897;refseq.end_3=46438897;refseq.end_4=46438897;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2003;refseq.mrnaCoord_2=1970;refseq.mrnaCoord_3=2135;refseq.mrnaCoord_4=2003;refseq.name2_1=LSS;refseq.name2_2=LSS;refseq.name2_3=LSS;refseq.name2_4=LSS;refseq.name_1=NM_001001438;refseq.name_2=NM_001145436;refseq.name_3=NM_001145437;refseq.name_4=NM_002340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L642V;refseq.proteinCoordStr_2=p.L631V;refseq.proteinCoordStr_3=p.L562V;refseq.proteinCoordStr_4=p.L642V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.spliceDist_4=-65;refseq.start_1=46438897;refseq.start_2=46438897;refseq.start_3=46438897;refseq.start_4=46438897;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=Intersection GT 1/1 chr21 46459604 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=98.53;MQ0=0;OQ=921.77;QD=11.97;RankSumP=0.192417;SB=-168.29;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.929A>G;refseq.codingCoordStr_2=c.896A>G;refseq.codingCoordStr_3=c.689A>G;refseq.codingCoordStr_4=c.929A>G;refseq.codonCoord_1=310;refseq.codonCoord_2=299;refseq.codonCoord_3=230;refseq.codonCoord_4=310;refseq.end_1=46459604;refseq.end_2=46459604;refseq.end_3=46459604;refseq.end_4=46459604;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1008;refseq.mrnaCoord_2=975;refseq.mrnaCoord_3=1140;refseq.mrnaCoord_4=1008;refseq.name2_1=LSS;refseq.name2_2=LSS;refseq.name2_3=LSS;refseq.name2_4=LSS;refseq.name_1=NM_001001438;refseq.name_2=NM_001145436;refseq.name_3=NM_001145437;refseq.name_4=NM_002340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H310R;refseq.proteinCoordStr_2=p.H299R;refseq.proteinCoordStr_3=p.H230R;refseq.proteinCoordStr_4=p.H310R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=46459604;refseq.start_2=46459604;refseq.start_3=46459604;refseq.start_4=46459604;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/0 chr21 46460055 . C G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=110;Dels=0.00;HRun=2;HaplotypeScore=4.60;MQ=98.28;MQ0=0;OQ=4602.93;QD=41.84;RankSumP=1.00000;SB=-958.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.864G>C;refseq.codingCoordStr_2=c.831G>C;refseq.codingCoordStr_3=c.624G>C;refseq.codingCoordStr_4=c.864G>C;refseq.codonCoord_1=288;refseq.codonCoord_2=277;refseq.codonCoord_3=208;refseq.codonCoord_4=288;refseq.end_1=46460055;refseq.end_2=46460055;refseq.end_3=46460055;refseq.end_4=46460055;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=943;refseq.mrnaCoord_2=910;refseq.mrnaCoord_3=1075;refseq.mrnaCoord_4=943;refseq.name2_1=LSS;refseq.name2_2=LSS;refseq.name2_3=LSS;refseq.name2_4=LSS;refseq.name_1=NM_001001438;refseq.name_2=NM_001145436;refseq.name_3=NM_001145437;refseq.name_4=NM_002340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P288P;refseq.proteinCoordStr_2=p.P277P;refseq.proteinCoordStr_3=p.P208P;refseq.proteinCoordStr_4=p.P288P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.spliceDist_1=-29;refseq.spliceDist_2=-29;refseq.spliceDist_3=-29;refseq.spliceDist_4=-29;refseq.start_1=46460055;refseq.start_2=46460055;refseq.start_3=46460055;refseq.start_4=46460055;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=Intersection GT 1/1 chr21 46466222 . C T 258.37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=4.31;MQ=98.53;MQ0=0;OQ=5012.61;QD=20.54;RankSumP=0.354941;SB=-1558.48;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.524G>A;refseq.codingCoordStr_2=c.491G>A;refseq.codingCoordStr_3=c.284G>A;refseq.codingCoordStr_4=c.524G>A;refseq.codonCoord_1=175;refseq.codonCoord_2=164;refseq.codonCoord_3=95;refseq.codonCoord_4=175;refseq.end_1=46466222;refseq.end_2=46466222;refseq.end_3=46466222;refseq.end_4=46466222;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=603;refseq.mrnaCoord_2=570;refseq.mrnaCoord_3=735;refseq.mrnaCoord_4=603;refseq.name2_1=LSS;refseq.name2_2=LSS;refseq.name2_3=LSS;refseq.name2_4=LSS;refseq.name_1=NM_001001438;refseq.name_2=NM_001145436;refseq.name_3=NM_001145437;refseq.name_4=NM_002340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R175Q;refseq.proteinCoordStr_2=p.R164Q;refseq.proteinCoordStr_3=p.R95Q;refseq.proteinCoordStr_4=p.R175Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.spliceDist_4=-27;refseq.start_1=46466222;refseq.start_2=46466222;refseq.start_3=46466222;refseq.start_4=46466222;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 0/1 chr21 46467037 . G A 220.89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.91;MQ0=0;OQ=4969.66;QD=21.80;RankSumP=0.0454334;SB=-1934.81;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.chr_3=chr21;refseq.chr_4=chr21;refseq.codingCoordStr_1=c.363C>T;refseq.codingCoordStr_2=c.363C>T;refseq.codingCoordStr_3=c.123C>T;refseq.codingCoordStr_4=c.363C>T;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=41;refseq.codonCoord_4=121;refseq.end_1=46467037;refseq.end_2=46467037;refseq.end_3=46467037;refseq.end_4=46467037;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=442;refseq.mrnaCoord_2=442;refseq.mrnaCoord_3=574;refseq.mrnaCoord_4=442;refseq.name2_1=LSS;refseq.name2_2=LSS;refseq.name2_3=LSS;refseq.name2_4=LSS;refseq.name_1=NM_001001438;refseq.name_2=NM_001145436;refseq.name_3=NM_001145437;refseq.name_4=NM_002340;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A121A;refseq.proteinCoordStr_2=p.A121A;refseq.proteinCoordStr_3=p.A41A;refseq.proteinCoordStr_4=p.A121A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=44;refseq.spliceDist_2=-33;refseq.spliceDist_3=44;refseq.spliceDist_4=44;refseq.start_1=46467037;refseq.start_2=46467037;refseq.start_3=46467037;refseq.start_4=46467037;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=Intersection GT 1/0 chr21 46489514 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_2=c.4673T>G;refseq.codonCoord_2=1558;refseq.end_1=46493917;refseq.end_2=46489514;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=4709;refseq.name2_1=MCM3APAS;refseq.name2_2=MCM3AP;refseq.name_1=NR_002776;refseq.name_2=NM_003906;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V1558G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTT;refseq.spliceDist_2=26;refseq.start_1=46485372;refseq.start_2=46489514;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chr21 46498732 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr=chr21;refseq.codingCoordStr=c.4136+2;refseq.end=46498732;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_003906;refseq.name2=MCM3AP;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=46498732;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr21 46511352 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2761A>C;refseq.codonCoord=921;refseq.end=46511352;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2797;refseq.name=NM_003906;refseq.name2=MCM3AP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T921P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-29;refseq.start=46511352;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr21 46528077 . G A 302.91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=396;Dels=0.00;HRun=0;HaplotypeScore=4.90;MQ=98.77;MQ0=0;OQ=15371.54;QD=38.82;RankSumP=1.00000;SB=-5374.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1323C>T;refseq.codonCoord=441;refseq.end=46528077;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1359;refseq.name=NM_003906;refseq.name2=MCM3AP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N441N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=104;refseq.start=46528077;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr21 46529324 . G A 95.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=206;Dels=0.00;HRun=2;HaplotypeScore=7.67;MQ=98.82;MQ0=0;OQ=7565.68;QD=36.73;RankSumP=1.00000;SB=-2251.46;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.305C>T;refseq.codonCoord=102;refseq.end=46529324;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=341;refseq.name=NM_003906;refseq.name2=MCM3AP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102L;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=341;refseq.start=46529324;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chr21 46559074 . C G 21.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.73;MQ0=0;QD=1.95;RankSumP=0.600000;SB=-25.83;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.593G>C;refseq.codonCoord=198;refseq.end=46559074;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1726;refseq.name=NM_058180;refseq.name2=C21orf58;refseq.positionType=CDS;refseq.proteinCoordStr=p.R198T;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-17;refseq.start=46559074;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=soap-filterIngatk GT 1/0 chr21 46597531 . C A 396.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.85;MQ0=0;OQ=8372.77;QD=39.31;RankSumP=1.00000;SB=-3737.27;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.1542C>A;refseq.codonCoord=514;refseq.end=46597531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1649;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.S514S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=86;refseq.start=46597531;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr21 46601491 . G A 297.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2325.54;QD=41.53;RankSumP=1.00000;SB=-1070.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.2111G>A;refseq.codonCoord=704;refseq.end=46601491;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2218;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.G704E;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-44;refseq.start=46601491;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr21 46608224 . T C 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=2277.23;QD=34.50;RankSumP=1.00000;SB=-896.70;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2556T>C;refseq.codonCoord=852;refseq.end=46608224;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2663;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.A852A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-54;refseq.start=46608224;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr21 46611245 . C G 126.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.81;MQ0=0;OQ=3844.88;QD=49.93;RankSumP=1.00000;SB=-1816.80;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.2928C>G;refseq.codonCoord=976;refseq.end=46611245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3035;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.L976L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-238;refseq.start=46611245;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr21 46611430 . T C 357.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2208.20;QD=36.80;RankSumP=1.00000;SB=-830.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.3113T>C;refseq.codonCoord=1038;refseq.end=46611430;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3220;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1038A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-53;refseq.start=46611430;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr21 46635700 . C T 106.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.77;MQ0=0;OQ=125.31;QD=31.33;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.4197C>T;refseq.codonCoord=1399;refseq.end=46635700;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4304;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.D1399D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-20;refseq.start=46635700;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=filterInsoap-gatk GT 1/1 chr21 46661081 . C T 298.74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.96;MQ0=0;OQ=948.69;QD=33.88;RankSumP=1.00000;SB=-454.33;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.6821C>T;refseq.codonCoord=2274;refseq.end=46661081;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6928;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2274L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-101;refseq.start=46661081;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr21 46674912 . G C 37.82 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.78;MQ0=0;OQ=291.95;QD=29.20;RankSumP=1.00000;SB=-55.93;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.7977G>C;refseq.codonCoord=2659;refseq.end=46674912;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8084;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2659H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=64;refseq.start=46674912;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=filterInsoap-gatk GT 1/1 chr21 46676181 . A G 191.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=99.00;MQ0=0;OQ=3316.23;QD=33.50;RankSumP=1.00000;SB=-1517.31;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.8375A>G;refseq.codonCoord=2792;refseq.end=46676181;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=8482;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q2792R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=311;refseq.start=46676181;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr21 46688185 . A C 220.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=7.28;MQ=98.62;MQ0=0;OQ=1173.18;QD=15.04;RankSumP=0.112012;SB=-566.28;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr21;refseq.codingCoordStr=c.9735A>C;refseq.codonCoord=3245;refseq.end=46688185;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=9842;refseq.name=NM_006031;refseq.name2=PCNT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R3245S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=35;refseq.start=46688185;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr21 46846658 . C G 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=209;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=98.81;MQ0=0;OQ=10395.63;QD=49.74;RankSumP=1.00000;SB=-3981.88;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr21;refseq.codingCoordStr=c.99G>C;refseq.codonCoord=33;refseq.end=46846658;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_006272;refseq.name2=S100B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L33L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-40;refseq.start=46846658;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr21 46887904 . C G 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=96.98;MQ0=0;OQ=1282.67;QD=41.38;RankSumP=1.00000;SB=-334.26;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.69C>G;refseq.codingCoordStr_2=c.69C>G;refseq.codonCoord_1=23;refseq.codonCoord_2=23;refseq.end_1=46887904;refseq.end_2=46887904;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=274;refseq.mrnaCoord_2=383;refseq.name2_1=PRMT2;refseq.name2_2=PRMT2;refseq.name_1=NM_001535;refseq.name_2=NM_206962;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A23A;refseq.proteinCoordStr_2=p.A23A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=30;refseq.spliceDist_2=30;refseq.start_1=46887904;refseq.start_2=46887904;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/1 chr21 46892823 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr21;refseq.chr_2=chr21;refseq.codingCoordStr_1=c.353A>C;refseq.codingCoordStr_2=c.353A>C;refseq.codonCoord_1=118;refseq.codonCoord_2=118;refseq.end_1=46892823;refseq.end_2=46892823;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=558;refseq.mrnaCoord_2=667;refseq.name2_1=PRMT2;refseq.name2_2=PRMT2;refseq.name_1=NM_001535;refseq.name_2=NM_206962;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D118A;refseq.proteinCoordStr_2=p.D118A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=46892823;refseq.start_2=46892823;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chr22 14829209 rs2212201 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1213;Dels=0.00;HRun=0;HaplotypeScore=30.68;MQ=3.44;MQ0=1204;OQ=80.64;QD=0.07;SB=-0.98;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.596G>T;refseq.codonCoord=199;refseq.end=14829209;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_001005239;refseq.name2=OR11H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R199L;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-386;refseq.start=14829209;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1071,142:7:-13.46,-2.11,-10.40:82.95 chr22 14829610 . C A 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.195G>T;refseq.codonCoord=65;refseq.end=14829610;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=195;refseq.name=NM_001005239;refseq.name2=OR11H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W65C;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=195;refseq.start=14829610;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 1/0 chr22 15451850 . C G 10 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.221109;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1591G>C;refseq.codonCoord=531;refseq.end=15451850;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1851;refseq.name=NM_014406;refseq.name2=CCT8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E531Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-203;refseq.start=15451850;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=FilteredInAll GT 1/0 chr22 15452483 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=928;Dels=0.00;HRun=0;HaplotypeScore=22.12;MQ=42.51;MQ0=512;OQ=11089.30;QD=11.95;RankSumP=1.00000;SB=-2983.88;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.958T>C;refseq.codonCoord=320;refseq.end=15452483;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1218;refseq.name=NM_014406;refseq.name2=CCT8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W320R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-836;refseq.start=15452483;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr22 15453066 . A G 74.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=67.18;MQ0=2;OQ=1518.30;QD=23.72;RankSumP=1.00000;SB=-711.29;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.375T>C;refseq.codonCoord=125;refseq.end=15453066;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_014406;refseq.name2=CCT8L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A125A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=635;refseq.start=15453066;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr22 15644565 . G T 316.93 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.76;MQ0=0;OQ=4460.66;QD=39.47;RankSumP=1.00000;SB=-1914.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1324C>A;refseq.codonCoord=442;refseq.end=15644565;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_175878;refseq.name2=XKR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H442N;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-260;refseq.start=15644565;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/1 chr22 15644904 . A G 304.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.85;MQ0=0;OQ=8926.49;QD=19.16;RankSumP=0.0286935;SB=-3212.54;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.985T>C;refseq.codonCoord=329;refseq.end=15644904;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1083;refseq.name=NM_175878;refseq.name2=XKR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.L329L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=396;refseq.start=15644904;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr22 15645124 . A C 301.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.82;MQ0=0;OQ=9687.83;QD=41.05;RankSumP=1.00000;SB=-4733.92;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.765T>G;refseq.codonCoord=255;refseq.end=15645124;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_175878;refseq.name2=XKR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.F255L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=176;refseq.start=15645124;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr22 15645194 . G A 135.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=193;Dels=0.00;HRun=0;HaplotypeScore=13.71;MQ=98.03;MQ0=0;OQ=4715.87;QD=24.43;RankSumP=0.364359;SB=-1733.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.695C>T;refseq.codonCoord=232;refseq.end=15645194;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=793;refseq.name=NM_175878;refseq.name2=XKR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P232L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=106;refseq.start=15645194;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr22 15826991 . C T 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=562;Dels=0.00;HRun=2;HaplotypeScore=8.61;MQ=98.81;MQ0=0;OQ=23740.30;QD=42.24;RankSumP=1.00000;SB=-8901.97;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1287G>A;refseq.codonCoord=429;refseq.end=15826991;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1395;refseq.name=NM_001037814;refseq.name2=GAB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.K429K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=15826991;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/1 chr22 15980977 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=295;Dels=0.00;HRun=2;HaplotypeScore=12.46;MQ=98.77;MQ0=0;OQ=5969.06;QD=20.23;RankSumP=0.157382;SB=-1341.72;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.-25C>T;refseq.codingCoordStr_2=c.1041C>T;refseq.codonCoord_2=347;refseq.end_1=15980977;refseq.end_2=15980977;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=173;refseq.mrnaCoord_2=1237;refseq.name2_1=CECR6;refseq.name2_2=CECR6;refseq.name_1=NM_001163079;refseq.name_2=NM_031890;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F347F;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=57;refseq.spliceDist_2=1237;refseq.start_1=15980977;refseq.start_2=15980977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTT;set=Intersection GT 1/0 chr22 16010486 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.60;MQ0=0;OQ=825.06;QD=10.44;RankSumP=0.361586;SB=-222.16;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.186G>T;refseq.codingCoordStr_2=c.276G>T;refseq.codonCoord_1=62;refseq.codonCoord_2=92;refseq.end_1=16010486;refseq.end_2=16010486;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=229;refseq.mrnaCoord_2=304;refseq.name2_1=CECR5;refseq.name2_2=CECR5;refseq.name_1=NM_017829;refseq.name_2=NM_033070;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G62G;refseq.proteinCoordStr_2=p.G92G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=-55;refseq.spliceDist_2=-55;refseq.start_1=16010486;refseq.start_2=16010486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr22 16042876 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1276G>T;refseq.codingCoordStr_2=c.553G>T;refseq.codonCoord_1=426;refseq.codonCoord_2=185;refseq.end_1=16042876;refseq.end_2=16042876;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1488;refseq.mrnaCoord_2=630;refseq.name2_1=CECR1;refseq.name2_2=CECR1;refseq.name_1=NM_017424;refseq.name_2=NM_177405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V426L;refseq.proteinCoordStr_2=p.V185L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.start_1=16042876;refseq.start_2=16042876;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;set=FilteredInAll GT 1/0 chr22 16043641 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1092T>G;refseq.codingCoordStr_2=c.369T>G;refseq.codonCoord_1=364;refseq.codonCoord_2=123;refseq.end_1=16043641;refseq.end_2=16043641;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1304;refseq.mrnaCoord_2=446;refseq.name2_1=CECR1;refseq.name2_2=CECR1;refseq.name_1=NM_017424;refseq.name_2=NM_177405;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G364G;refseq.proteinCoordStr_2=p.G123G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=16043641;refseq.start_2=16043641;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr22 16070409 . G A 199.20 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=99.00;MQ0=0;OQ=1776.19;QD=32.29;RankSumP=1.00000;SB=-820.01;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.159C>T;refseq.codonCoord=53;refseq.end=16070409;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=371;refseq.name=NM_017424;refseq.name2=CECR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N53N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-164;refseq.start=16070409;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chr22 16606601 . C G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00557647;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.191G>C;refseq.codingCoordStr_2=c.329G>C;refseq.codingCoordStr_3=c.-98G>C;refseq.codonCoord_1=64;refseq.codonCoord_2=110;refseq.end_1=16606601;refseq.end_2=16606601;refseq.end_3=16606601;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=361;refseq.mrnaCoord_2=653;refseq.mrnaCoord_3=291;refseq.name2_1=BID;refseq.name2_2=BID;refseq.name2_3=BID;refseq.name_1=NM_001196;refseq.name_2=NM_197966;refseq.name_3=NM_197967;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.proteinCoordStr_1=p.S64T;refseq.proteinCoordStr_2=p.S110T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.start_1=16606601;refseq.start_2=16606601;refseq.start_3=16606601;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr22 16946288 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=230.62;QD=12.14;RankSumP=0.522710;SB=-120.70;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.457C>G;refseq.codingCoordStr_2=c.457C>G;refseq.codonCoord_1=153;refseq.codonCoord_2=153;refseq.end_1=16946288;refseq.end_2=16946288;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=914;refseq.mrnaCoord_2=666;refseq.name2_1=PEX26;refseq.name2_2=PEX26;refseq.name_1=NM_001127649;refseq.name_2=NM_017929;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L153V;refseq.proteinCoordStr_2=p.L153V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=86;refseq.spliceDist_2=86;refseq.start_1=16946288;refseq.start_2=16946288;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr22 17023000 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.497274;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.219C>T;refseq.codonCoord=73;refseq.end=17023000;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=557;refseq.name=NM_017414;refseq.name2=USP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.F73F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-36;refseq.start=17023000;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chr22 17030087 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.423487;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.466A>G;refseq.codonCoord=156;refseq.end=17030087;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=804;refseq.name=NM_017414;refseq.name2=USP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T156A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-15;refseq.start=17030087;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 0/1 chr22 17030682 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=341;Dels=0.00;HRun=0;HaplotypeScore=17.75;MQ=42.58;MQ0=68;OQ=3208.81;QD=9.41;RankSumP=0.178061;SB=-1089.25;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.506C>T;refseq.codonCoord=169;refseq.end=17030682;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=844;refseq.name=NM_017414;refseq.name2=USP18;refseq.positionType=CDS;refseq.proteinCoordStr=p.T169M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=26;refseq.start=17030682;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr22 17280750 . G A 71 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=122.77;QD=12.28;RankSumP=0.621212;SB=-10.00;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1741C>T;refseq.codonCoord=581;refseq.end=17280750;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1755;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L581L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=126;refseq.start=17280750;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr22 17281004 . C T 394.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=97.53;MQ0=0;OQ=2132.72;QD=36.15;RankSumP=1.00000;SB=-959.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1562G>A;refseq.codonCoord=521;refseq.end=17281004;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1576;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.R521Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=36;refseq.start=17281004;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr22 17284414 . A G 71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=34.30;MQ0=124;OQ=1000.91;QD=6.50;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1515T>C;refseq.codonCoord=505;refseq.end=17284414;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1529;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.F505F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-12;refseq.start=17284414;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 17285978 . G A 319.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=82.44;MQ0=2;OQ=1373.37;QD=36.14;RankSumP=1.00000;SB=-514.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1278C>T;refseq.codonCoord=426;refseq.end=17285978;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1292;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.D426D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=27;refseq.start=17285978;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr22 17288875 . A G 79.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.37;MQ0=0;OQ=460.30;QD=32.88;RankSumP=1.00000;SB=-211.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.991T>C;refseq.codonCoord=331;refseq.end=17288875;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L331L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-21;refseq.start=17288875;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=filterInsoap-gatk GT 1/1 chr22 17292678 . A G 279.57 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=149;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=98.79;MQ0=0;OQ=5337.64;QD=35.82;RankSumP=1.00000;SB=-2202.88;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.553T>C;refseq.codonCoord=185;refseq.end=17292678;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=567;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.W185R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=36;refseq.start=17292678;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr22 17303589 . G C 0.23 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=93.19;MQ0=0;OQ=55.30;QD=27.65;SB=-49.92;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.212C>G;refseq.codonCoord=71;refseq.end=17303589;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=226;refseq.name=NM_016335;refseq.name2=PRODH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A71G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-62;refseq.start=17303589;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=gatk GT:AD:DP:GL:GQ 1/1:0,2:2:-8.94,-0.60,-0.00:6.02 chr22 17406613 . A G 220.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.41;MQ0=0;OQ=1684.06;QD=33.02;RankSumP=1.00000;SB=-662.15;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1295T>C;refseq.codingCoordStr_2=c.1286T>C;refseq.codingCoordStr_3=c.1418T>C;refseq.codonCoord_1=432;refseq.codonCoord_2=429;refseq.codonCoord_3=473;refseq.end_1=17406613;refseq.end_2=17406613;refseq.end_3=17406613;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1543;refseq.mrnaCoord_2=1534;refseq.mrnaCoord_3=1666;refseq.name2_1=DGCR2;refseq.name2_2=DGCR2;refseq.name2_3=DGCR2;refseq.name_1=NM_001173533;refseq.name_2=NM_001173534;refseq.name_3=NM_005137;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V432A;refseq.proteinCoordStr_2=p.V429A;refseq.proteinCoordStr_3=p.V473A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=22;refseq.spliceDist_2=22;refseq.spliceDist_3=22;refseq.start_1=17406613;refseq.start_2=17406613;refseq.start_3=17406613;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr22 17408782 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=107;Dels=0.00;HRun=1;HaplotypeScore=5.76;MQ=98.41;MQ0=0;OQ=1228.63;QD=11.48;RankSumP=0.291191;SB=-369.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1062G>A;refseq.codingCoordStr_2=c.1053G>A;refseq.codingCoordStr_3=c.1185G>A;refseq.codonCoord_1=354;refseq.codonCoord_2=351;refseq.codonCoord_3=395;refseq.end_1=17408782;refseq.end_2=17408782;refseq.end_3=17408782;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1310;refseq.mrnaCoord_2=1301;refseq.mrnaCoord_3=1433;refseq.name2_1=DGCR2;refseq.name2_2=DGCR2;refseq.name2_3=DGCR2;refseq.name_1=NM_001173533;refseq.name_2=NM_001173534;refseq.name_3=NM_005137;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R354R;refseq.proteinCoordStr_2=p.R351R;refseq.proteinCoordStr_3=p.R395R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=17408782;refseq.start_2=17408782;refseq.start_3=17408782;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 0/1 chr22 17499545 . C T 176.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=98.79;MQ0=0;OQ=1378.43;QD=17.23;RankSumP=0.0176317;SB=-645.66;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*2164G>A;refseq.codingCoordStr_2=c.633C>T;refseq.codonCoord_2=211;refseq.end_1=17499545;refseq.end_2=17499545;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3632;refseq.mrnaCoord_2=1225;refseq.name2_1=DGCR14;refseq.name2_2=TSSK2;refseq.name_1=NM_022719;refseq.name_2=NM_053006;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C211C;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=-1754;refseq.spliceDist_2=-592;refseq.start_1=17499545;refseq.start_2=17499545;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Cys;refseq.variantCodon_2=TGT;set=Intersection GT 0/1 chr22 17499686 . C T 288.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=97.67;MQ0=0;OQ=1938.10;QD=16.85;RankSumP=0.253927;SB=-747.61;SecondBestBaseQ=27;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*2023G>A;refseq.codingCoordStr_2=c.774C>T;refseq.codonCoord_2=258;refseq.end_1=17499686;refseq.end_2=17499686;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3491;refseq.mrnaCoord_2=1366;refseq.name2_1=DGCR14;refseq.name2_2=TSSK2;refseq.name_1=NM_022719;refseq.name_2=NM_053006;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S258S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-1895;refseq.spliceDist_2=-451;refseq.start_1=17499686;refseq.start_2=17499686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 0/1 chr22 17499751 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=20.86;MQ=98.10;MQ0=0;OQ=1431.92;QD=8.78;RankSumP=0.145942;SB=-286.81;SecondBestBaseQ=23;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*1958G>A;refseq.codingCoordStr_2=c.839C>T;refseq.codonCoord_2=280;refseq.end_1=17499751;refseq.end_2=17499751;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3426;refseq.mrnaCoord_2=1431;refseq.name2_1=DGCR14;refseq.name2_2=TSSK2;refseq.name_1=NM_022719;refseq.name_2=NM_053006;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T280M;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-1960;refseq.spliceDist_2=-386;refseq.start_1=17499751;refseq.start_2=17499751;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Met;refseq.variantCodon_2=ATG;set=Intersection GT 0/1 chr22 17499938 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=222;Dels=0.00;HRun=0;HaplotypeScore=15.31;MQ=98.65;MQ0=0;OQ=2511.01;QD=11.31;RankSumP=0.0431499;SB=-935.77;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*1771C>T;refseq.codingCoordStr_2=c.1026G>A;refseq.codonCoord_2=342;refseq.end_1=17499938;refseq.end_2=17499938;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3239;refseq.mrnaCoord_2=1618;refseq.name2_1=DGCR14;refseq.name2_2=TSSK2;refseq.name_1=NM_022719;refseq.name_2=NM_053006;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R342R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=2051;refseq.spliceDist_2=-199;refseq.start_1=17499938;refseq.start_2=17499938;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chr22 17502665 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=4.85;MQ=97.97;MQ0=0;OQ=765.80;QD=18.23;RankSumP=0.651766;SB=-291.34;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1059G>A;refseq.codonCoord=353;refseq.end=17502665;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1096;refseq.name=NM_022719;refseq.name2=DGCR14;refseq.positionType=CDS;refseq.proteinCoordStr=p.E353E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=24;refseq.start=17502665;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chr22 17512061 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=22.31;MQ=96.89;MQ0=0;OQ=903.50;QD=11.02;RankSumP=0.0169921;SB=-377.89;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.93G>A;refseq.codonCoord=31;refseq.end=17512061;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_022719;refseq.name2=DGCR14;refseq.positionType=CDS;refseq.proteinCoordStr=p.A31A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-43;refseq.start=17512061;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 17546118 . C A 10.52 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=10.52;SB=-10.00;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.69G>T;refseq.codonCoord=23;refseq.end=17546118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_005984;refseq.name2=SLC25A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T23T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-26;refseq.start=17546118;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.29,-0.30,-0.00:1.76 chr22 17891684 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.350T>G;refseq.codingCoordStr_2=c.350T>G;refseq.codonCoord_1=117;refseq.codonCoord_2=117;refseq.end_1=17891684;refseq.end_2=17891684;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1177;refseq.mrnaCoord_2=565;refseq.name2_1=CLDN5;refseq.name2_2=CLDN5;refseq.name_1=NM_001130861;refseq.name_2=NM_003277;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V117G;refseq.proteinCoordStr_2=p.V117G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-1138;refseq.spliceDist_2=382;refseq.start_1=17891684;refseq.start_2=17891684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr22 18130773 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=232;Dels=0.00;HRun=3;HaplotypeScore=15.96;MQ=98.62;MQ0=0;OQ=4311.31;QD=18.58;RankSumP=0.407458;SB=-841.41;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.420T>C;refseq.codingCoordStr_2=c.420T>C;refseq.codingCoordStr_3=c.420T>C;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.codonCoord_3=140;refseq.end_1=18130773;refseq.end_2=18130773;refseq.end_3=18130773;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=549;refseq.mrnaCoord_2=549;refseq.mrnaCoord_3=549;refseq.name2_1=TBX1;refseq.name2_2=TBX1;refseq.name2_3=TBX1;refseq.name_1=NM_005992;refseq.name_2=NM_080646;refseq.name_3=NM_080647;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F140F;refseq.proteinCoordStr_2=p.F140F;refseq.proteinCoordStr_3=p.F140F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=18130773;refseq.start_2=18130773;refseq.start_3=18130773;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=Intersection GT 1/0 chr22 18156365 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DP=77;Dels=0.00;HRun=0;HaplotypeScore=7.19;MQ=97.77;MQ0=0;OQ=768.12;QD=9.98;RankSumP=0.266938;SB=-359.88;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.851C>T;refseq.codonCoord=284;refseq.end=18156365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_053004;refseq.name2=GNB1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T284M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=119;refseq.start=18156365;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr22 18218927 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.63131e-09;SecondBestBaseQ=9;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.858A>C;refseq.codonCoord_2=286;refseq.end_1=18221955;refseq.end_2=18218927;refseq.frame_2=2;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1369;refseq.name2_1=GNB1L;refseq.name2_2=C22orf29;refseq.name_1=NM_053004;refseq.name_2=NM_024627;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E286D;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_2=1083;refseq.start_1=18188909;refseq.start_2=18218927;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=FilteredInAll GT 1/0 chr22 18248218 . A G 240.24 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=8.65;MQ=98.51;MQ0=0;OQ=6337.73;QD=37.95;RankSumP=1.00000;SB=-1791.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1109T>C;refseq.codonCoord=370;refseq.end=18248218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1142;refseq.name=NM_006440;refseq.name2=TXNRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I370T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=23;refseq.start=18248218;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/1 chr22 18286410 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=3.36928e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.347A>G;refseq.codonCoord=116;refseq.end=18286410;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_006440;refseq.name2=TXNRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E116G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-28;refseq.start=18286410;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 18287099 . C A 99.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=97.15;MQ0=0;OQ=326.58;QD=13.61;RankSumP=0.682085;SB=-172.84;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.196G>T;refseq.codonCoord=66;refseq.end=18287099;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_006440;refseq.name2=TXNRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A66S;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=24;refseq.start=18287099;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr22 18287118 . G A 134.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=97.93;MQ0=0;OQ=483.63;QD=21.03;RankSumP=0.354416;SB=-165.61;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.177C>T;refseq.codonCoord=59;refseq.end=18287118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=210;refseq.name=NM_006440;refseq.name2=TXNRD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A59A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=18287118;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr22 18330235 . C T 282.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=5.29;MQ=98.54;MQ0=0;OQ=2925.89;QD=15.82;RankSumP=0.115271;SB=-894.22;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.186C>T;refseq.codingCoordStr_2=c.186C>T;refseq.codingCoordStr_3=c.186C>T;refseq.codingCoordStr_4=c.36C>T;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.codonCoord_3=62;refseq.codonCoord_4=12;refseq.end_1=18330235;refseq.end_2=18330235;refseq.end_3=18330235;refseq.end_4=18330235;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=435;refseq.mrnaCoord_2=393;refseq.mrnaCoord_3=410;refseq.mrnaCoord_4=166;refseq.name2_1=COMT;refseq.name2_2=COMT;refseq.name2_3=COMT;refseq.name2_4=COMT;refseq.name_1=NM_000754;refseq.name_2=NM_001135161;refseq.name_3=NM_001135162;refseq.name_4=NM_007310;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H62H;refseq.proteinCoordStr_2=p.H62H;refseq.proteinCoordStr_3=p.H62H;refseq.proteinCoordStr_4=p.H12H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=-104;refseq.spliceDist_2=-104;refseq.spliceDist_3=-104;refseq.spliceDist_4=-104;refseq.start_1=18330235;refseq.start_2=18330235;refseq.start_3=18330235;refseq.start_4=18330235;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;refseq.variantCodon_3=CAT;refseq.variantCodon_4=CAT;set=Intersection GT 0/1 chr22 18331207 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=15.69;MQ=97.73;MQ0=0;OQ=2138.25;QD=12.65;RankSumP=0.144207;SB=-627.38;SecondBestBaseQ=24;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.408C>G;refseq.codingCoordStr_2=c.408C>G;refseq.codingCoordStr_3=c.408C>G;refseq.codingCoordStr_4=c.258C>G;refseq.codonCoord_1=136;refseq.codonCoord_2=136;refseq.codonCoord_3=136;refseq.codonCoord_4=86;refseq.end_1=18331207;refseq.end_2=18331207;refseq.end_3=18331207;refseq.end_4=18331207;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=657;refseq.mrnaCoord_2=615;refseq.mrnaCoord_3=632;refseq.mrnaCoord_4=388;refseq.name2_1=COMT;refseq.name2_2=COMT;refseq.name2_3=COMT;refseq.name2_4=COMT;refseq.name_1=NM_000754;refseq.name_2=NM_001135161;refseq.name_3=NM_001135162;refseq.name_4=NM_007310;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L136L;refseq.proteinCoordStr_2=p.L136L;refseq.proteinCoordStr_3=p.L136L;refseq.proteinCoordStr_4=p.L86L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.spliceDist_4=-76;refseq.start_1=18331207;refseq.start_2=18331207;refseq.start_3=18331207;refseq.start_4=18331207;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/0 chr22 18331271 . G A 261.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=98.04;MQ0=0;OQ=2108.02;QD=16.73;RankSumP=0.166418;SB=-546.74;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.472G>A;refseq.codingCoordStr_2=c.472G>A;refseq.codingCoordStr_3=c.472G>A;refseq.codingCoordStr_4=c.322G>A;refseq.codonCoord_1=158;refseq.codonCoord_2=158;refseq.codonCoord_3=158;refseq.codonCoord_4=108;refseq.end_1=18331271;refseq.end_2=18331271;refseq.end_3=18331271;refseq.end_4=18331271;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=721;refseq.mrnaCoord_2=679;refseq.mrnaCoord_3=696;refseq.mrnaCoord_4=452;refseq.name2_1=COMT;refseq.name2_2=COMT;refseq.name2_3=COMT;refseq.name2_4=COMT;refseq.name_1=NM_000754;refseq.name_2=NM_001135161;refseq.name_3=NM_001135162;refseq.name_4=NM_007310;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V158M;refseq.proteinCoordStr_2=p.V158M;refseq.proteinCoordStr_3=p.V158M;refseq.proteinCoordStr_4=p.V108M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.referenceCodon_4=GTG;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.spliceDist_4=-12;refseq.start_1=18331271;refseq.start_2=18331271;refseq.start_3=18331271;refseq.start_4=18331271;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantAA_3=Met;refseq.variantAA_4=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;refseq.variantCodon_3=ATG;refseq.variantCodon_4=ATG;set=Intersection GT 1/0 chr22 18339473 . C T 388.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=98.27;MQ0=0;OQ=12305.50;QD=39.82;RankSumP=1.00000;SB=-3715.28;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2717G>A;refseq.codonCoord=906;refseq.end=18339473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2987;refseq.name=NM_001670;refseq.name2=ARVCF;refseq.positionType=CDS;refseq.proteinCoordStr=p.R906Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=22;refseq.start=18339473;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chr22 18348971 . G A 174.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=97.97;MQ0=0;OQ=230.17;QD=16.44;RankSumP=0.0818182;SB=-85.31;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.659C>T;refseq.codonCoord=220;refseq.end=18348971;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=929;refseq.name=NM_001670;refseq.name2=ARVCF;refseq.positionType=CDS;refseq.proteinCoordStr=p.P220L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-238;refseq.start=18348971;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr22 18349075 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=95.51;MQ0=0;OQ=283.79;QD=7.09;RankSumP=0.559841;SB=-68.30;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.555T>C;refseq.codonCoord=185;refseq.end=18349075;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=825;refseq.name=NM_001670;refseq.name2=ARVCF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S185S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=186;refseq.start=18349075;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chr22 18349106 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=96.38;MQ0=0;OQ=629.31;QD=10.15;RankSumP=0.380749;SB=-310.90;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.524T>C;refseq.codonCoord=175;refseq.end=18349106;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=794;refseq.name=NM_001670;refseq.name2=ARVCF;refseq.positionType=CDS;refseq.proteinCoordStr=p.V175A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=155;refseq.start=18349106;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr22 18483263 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=924.60;QD=14.22;RankSumP=0.357686;SB=-486.46;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.640C>A;refseq.codingCoordStr_2=c.640C>A;refseq.codonCoord_1=214;refseq.codonCoord_2=214;refseq.end_1=18483263;refseq.end_2=18483263;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=979;refseq.mrnaCoord_2=855;refseq.name2_1=TRMT2A;refseq.name2_2=TRMT2A;refseq.name_1=NM_022727;refseq.name_2=NM_182984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L214I;refseq.proteinCoordStr_2=p.L214I;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.start_1=18483263;refseq.start_2=18483263;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 0/1 chr22 18483264 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=963.28;QD=15.05;RankSumP=0.544123;SB=-497.46;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.639G>A;refseq.codingCoordStr_2=c.639G>A;refseq.codonCoord_1=213;refseq.codonCoord_2=213;refseq.end_1=18483264;refseq.end_2=18483264;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=978;refseq.mrnaCoord_2=854;refseq.name2_1=TRMT2A;refseq.name2_2=TRMT2A;refseq.name_1=NM_022727;refseq.name_2=NM_182984;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L213L;refseq.proteinCoordStr_2=p.L213L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.start_1=18483264;refseq.start_2=18483264;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTA;refseq.variantCodon_2=CTA;set=Intersection GT 0/1 chr22 18687256 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=55.72;MQ0=34;OQ=624.76;QD=7.71;RankSumP=0.651040;SB=-335.78;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.177C>T;refseq.codonCoord=59;refseq.end=18687256;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=274;refseq.name=NM_033257;refseq.name2=DGCR6L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T59T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=67;refseq.start=18687256;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chr22 19084950 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.149T>G;refseq.codonCoord_2=50;refseq.end_1=19084950;refseq.end_2=19084950;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=502;refseq.mrnaCoord_2=588;refseq.name2_1=ZNF74;refseq.name2_2=ZNF74;refseq.name_1=NR_003253;refseq.name_2=NM_003426;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V50G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=19084950;refseq.start_2=19084950;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr22 19090515 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1192A>C;refseq.codonCoord_2=398;refseq.end_1=19090515;refseq.end_2=19090515;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1545;refseq.mrnaCoord_2=1631;refseq.name2_1=ZNF74;refseq.name2_2=ZNF74;refseq.name_1=NR_003253;refseq.name_2=NM_003426;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T398P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=849;refseq.spliceDist_2=849;refseq.start_1=19090515;refseq.start_2=19090515;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr22 19090600 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1277A>C;refseq.codonCoord_2=426;refseq.end_1=19090600;refseq.end_2=19090600;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1630;refseq.mrnaCoord_2=1716;refseq.name2_1=ZNF74;refseq.name2_2=ZNF74;refseq.name_1=NR_003253;refseq.name_2=NM_003426;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N426T;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=934;refseq.spliceDist_2=934;refseq.start_1=19090600;refseq.start_2=19090600;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chr22 19109768 . G C 57.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=99.00;MQ0=0;OQ=470.45;QD=33.60;RankSumP=1.00000;SB=-196.88;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2510C>G;refseq.codingCoordStr_2=c.2495C>G;refseq.codonCoord_1=837;refseq.codonCoord_2=832;refseq.end_1=19109768;refseq.end_2=19109768;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2615;refseq.mrnaCoord_2=2600;refseq.name2_1=SCARF2;refseq.name2_2=SCARF2;refseq.name_1=NM_153334;refseq.name_2=NM_182895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A837G;refseq.proteinCoordStr_2=p.A832G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=802;refseq.spliceDist_2=802;refseq.start_1=19109768;refseq.start_2=19109768;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr22 19110091 . C G 5 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=16;DP=6;Dels=0.00;HRun=6;HaplotypeScore=0.95;MQ=83.46;MQ0=0;OQ=80.85;QD=13.47;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2187G>C;refseq.codingCoordStr_2=c.2172G>C;refseq.codonCoord_1=729;refseq.codonCoord_2=724;refseq.end_1=19110091;refseq.end_2=19110091;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2292;refseq.mrnaCoord_2=2277;refseq.name2_1=SCARF2;refseq.name2_2=SCARF2;refseq.name_1=NM_153334;refseq.name_2=NM_182895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P729P;refseq.proteinCoordStr_2=p.P724P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=479;refseq.spliceDist_2=479;refseq.start_1=19110091;refseq.start_2=19110091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/1 chr22 19110097 . G C 13.82 BadSOAPSNP;ESPStandard;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=6;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=85.85;MQ0=0;QD=1.97;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2181C>G;refseq.codingCoordStr_2=c.2166C>G;refseq.codonCoord_1=727;refseq.codonCoord_2=722;refseq.end_1=19110097;refseq.end_2=19110097;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2286;refseq.mrnaCoord_2=2271;refseq.name2_1=SCARF2;refseq.name2_2=SCARF2;refseq.name_1=NM_153334;refseq.name_2=NM_182895;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R727R;refseq.proteinCoordStr_2=p.R722R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=473;refseq.spliceDist_2=473;refseq.start_1=19110097;refseq.start_2=19110097;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=FilteredInAll GT 1/1 chr22 19149608 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=4.57532e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.649G>C;refseq.codonCoord=217;refseq.end=19149608;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=758;refseq.name=NM_032775;refseq.name2=KLHL22;refseq.positionType=CDS;refseq.proteinCoordStr=p.A217P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=256;refseq.start=19149608;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 19396789 . A G 0.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=8.92;MQ=47.25;MQ0=61;OQ=284.27;QD=2.93;RankSumP=0.321429;SB=-56.85;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2043T>C;refseq.codingCoordStr_2=c.5613T>C;refseq.codonCoord_1=681;refseq.codonCoord_2=1871;refseq.end_1=19396789;refseq.end_2=19396789;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2160;refseq.mrnaCoord_2=5844;refseq.name2_1=PI4KA;refseq.name2_2=PI4KA;refseq.name_1=NM_002650;refseq.name_2=NM_058004;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T681T;refseq.proteinCoordStr_2=p.T1871T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=19396789;refseq.start_2=19396789;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=filterInsoap-gatk GT 0/1 chr22 19426545 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3538C>G;refseq.codonCoord=1180;refseq.end=19426545;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3769;refseq.name=NM_058004;refseq.name2=PI4KA;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1180V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-30;refseq.start=19426545;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 0/1 chr22 19471300 . T C 189.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=358;Dels=0.00;HRun=1;HaplotypeScore=6.36;MQ=98.85;MQ0=0;OQ=6227.17;QD=17.39;RankSumP=0.0617102;SB=-2452.57;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1446T>C;refseq.codonCoord_2=482;refseq.end_1=19477470;refseq.end_2=19471300;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1513;refseq.name2_1=PI4KA;refseq.name2_2=SERPIND1;refseq.name_1=NM_058004;refseq.name_2=NM_000185;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H482H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAT;refseq.spliceDist_2=138;refseq.start_1=19449992;refseq.start_2=19471300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr22 19497787 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=98.39;MQ0=0;OQ=1303.39;QD=20.05;RankSumP=0.171003;SB=-470.84;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.690C>T;refseq.codonCoord=230;refseq.end=19497787;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_058004;refseq.name2=PI4KA;refseq.positionType=CDS;refseq.proteinCoordStr=p.C230C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=19497787;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 19543416 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.62;MQ0=0;OQ=667.98;QD=10.60;RankSumP=0.414451;SB=-331.56;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.18A>G;refseq.codonCoord=6;refseq.end=19543416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=125;refseq.name=NM_004782;refseq.name2=SNAP29;refseq.positionType=CDS;refseq.proteinCoordStr=p.K6K;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=125;refseq.start=19543416;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 0/1 chr22 19659032 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_2=c.647A>G;refseq.codingCoordStr_3=c.665A>G;refseq.codingCoordStr_4=c.647A>G;refseq.codonCoord_2=216;refseq.codonCoord_3=222;refseq.codonCoord_4=216;refseq.end_1=19659032;refseq.end_2=19659032;refseq.end_3=19659032;refseq.end_4=19659032;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=822;refseq.mrnaCoord_2=865;refseq.mrnaCoord_3=950;refseq.mrnaCoord_4=865;refseq.name2_1=AIFM3;refseq.name2_2=AIFM3;refseq.name2_3=AIFM3;refseq.name2_4=AIFM3;refseq.name_1=NR_027464;refseq.name_2=NM_001018060;refseq.name_3=NM_001146288;refseq.name_4=NM_144704;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.E216G;refseq.proteinCoordStr_3=p.E222G;refseq.proteinCoordStr_4=p.E216G;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.spliceDist_4=40;refseq.start_1=19659032;refseq.start_2=19659032;refseq.start_3=19659032;refseq.start_4=19659032;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 0/1 chr22 19661043 . A T 146.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.94;MQ0=0;OQ=834.25;QD=32.09;RankSumP=1.00000;SB=-130.96;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_2=c.1134A>T;refseq.codingCoordStr_3=c.1152A>T;refseq.codingCoordStr_4=c.1134A>T;refseq.codonCoord_2=378;refseq.codonCoord_3=384;refseq.codonCoord_4=378;refseq.end_1=19661043;refseq.end_2=19661043;refseq.end_3=19661043;refseq.end_4=19661043;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1309;refseq.mrnaCoord_2=1352;refseq.mrnaCoord_3=1437;refseq.mrnaCoord_4=1352;refseq.name2_1=AIFM3;refseq.name2_2=AIFM3;refseq.name2_3=AIFM3;refseq.name2_4=AIFM3;refseq.name_1=NR_027464;refseq.name_2=NM_001018060;refseq.name_3=NM_001146288;refseq.name_4=NM_144704;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R378R;refseq.proteinCoordStr_3=p.R384R;refseq.proteinCoordStr_4=p.R378R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=CGA;refseq.referenceCodon_3=CGA;refseq.referenceCodon_4=CGA;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.start_1=19661043;refseq.start_2=19661043;refseq.start_3=19661043;refseq.start_4=19661043;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;refseq.variantCodon_4=CGT;set=Intersection GT 1/1 chr22 19684970 . C G 79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=554;Dels=0.00;HRun=4;HaplotypeScore=12.24;MQ=98.56;MQ0=0;OQ=25930.42;QD=46.81;RankSumP=1.00000;SB=-11941.96;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.343G>C;refseq.codingCoordStr_2=c.343G>C;refseq.codonCoord_1=115;refseq.codonCoord_2=115;refseq.end_1=19684970;refseq.end_2=19684970;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=373;refseq.mrnaCoord_2=547;refseq.name2_1=THAP7;refseq.name2_2=THAP7;refseq.name_1=NM_001008695;refseq.name_2=NM_030573;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A115P;refseq.proteinCoordStr_2=p.A115P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.start_1=19684970;refseq.start_2=19684970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=soap-filterIngatk GT 1/1 chr22 19713429 . A T 113.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=99.00;MQ0=0;OQ=464.54;QD=17.87;RankSumP=0.509064;SB=-151.90;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1823T>A;refseq.codonCoord=608;refseq.end=19713429;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1891;refseq.name=NM_004173;refseq.name2=SLC7A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F608Y;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=91;refseq.start=19713429;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chr22 19715741 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.361A>G;refseq.codonCoord=121;refseq.end=19715741;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_004173;refseq.name2=SLC7A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.N121D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=401;refseq.start=19715741;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chr22 19715985 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=97.95;MQ0=0;OQ=1181.60;QD=13.28;RankSumP=0.469160;SB=-139.58;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.117G>A;refseq.codonCoord=39;refseq.end=19715985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=185;refseq.name=NM_004173;refseq.name2=SLC7A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T39T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=157;refseq.start=19715985;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr22 20130042 . T C 51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=8.09;MQ=94.12;MQ0=0;OQ=919.36;QD=21.89;RankSumP=1.00000;SB=-322.46;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.858T>C;refseq.codonCoord=286;refseq.end=20130042;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_015094;refseq.name2=HIC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A286A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=832;refseq.start=20130042;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr22 20130444 . T C 205.76 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=98.10;MQ0=0;OQ=1342.46;QD=33.56;RankSumP=1.00000;SB=-592.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1260T>C;refseq.codonCoord=420;refseq.end=20130444;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1490;refseq.name=NM_015094;refseq.name2=HIC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H420H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=1234;refseq.start=20130444;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr22 20312892 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=94.41;MQ0=0;OQ=100.61;QD=5.92;RankSumP=0.339327;SB=-37.51;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.787G>A;refseq.codonCoord=263;refseq.end=20312892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_001017964;refseq.name2=YDJC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A263T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=185;refseq.start=20312892;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr22 20314205 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.26;MQ0=0;OQ=641.91;QD=7.38;RankSumP=0.00208421;SB=-156.29;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=20314205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=136;refseq.name=NM_001017964;refseq.name2=YDJC;refseq.positionType=CDS;refseq.proteinCoordStr=p.A33A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-66;refseq.start=20314205;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 0/1 chr22 20328280 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=184;Dels=0.00;HRun=0;HaplotypeScore=6.81;MQ=98.66;MQ0=0;OQ=2705.16;QD=14.70;RankSumP=0.106866;SB=-926.91;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.482G>A;refseq.codonCoord=161;refseq.end=20328280;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=566;refseq.name=NM_022044;refseq.name2=SDF2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R161H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=98;refseq.start=20328280;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr22 20615518 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.chr=chr22;refseq.codingCoordStr=c.891+2;refseq.end=20615518;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_014634;refseq.name2=PPM1F;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=20615518;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr22 20648354 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.91;MQ0=0;OQ=1031.32;QD=10.63;RankSumP=0.0477485;SB=-425.60;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1145A>G;refseq.codonCoord=382;refseq.end=20648354;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1580;refseq.name=NM_003935;refseq.name2=TOP3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H382R;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=47;refseq.start=20648354;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr22 20656322 . A C 18 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.0298379;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.311T>G;refseq.codonCoord=104;refseq.end=20656322;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_003935;refseq.name2=TOP3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V104G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=20656322;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 20660082 . T C 297.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=9.35;MQ=98.70;MQ0=0;OQ=3212.09;QD=16.14;RankSumP=0.137742;SB=-1233.22;SecondBestBaseQ=32;refseq.chr=chr22;refseq.codingCoordStr=c.-1A>G;refseq.end=20660082;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.mrnaCoord=435;refseq.name=NM_003935;refseq.name2=TOP3B;refseq.positionType=utr5;refseq.spliceDist=-71;refseq.start=20660082;refseq.transcriptStrand=-;set=Intersection GT 1/0 chr22 21172206 . T C 110.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=16.65;MQ=98.84;MQ0=0;OQ=8428.23;QD=34.26;RankSumP=1.00000;SB=-3745.80;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1518A>G;refseq.codonCoord=506;refseq.end=21172206;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2294;refseq.name=NM_080764;refseq.name2=ZNF280B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S506S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=1586;refseq.start=21172206;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr22 21172957 . T G 419.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=3162.67;QD=41.07;RankSumP=1.00000;SB=-1393.28;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.767A>C;refseq.codonCoord=256;refseq.end=21172957;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1543;refseq.name=NM_080764;refseq.name2=ZNF280B;refseq.positionType=CDS;refseq.proteinCoordStr=p.E256A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=835;refseq.start=21172957;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr22 21173118 . C T 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=24.16;MQ=98.93;MQ0=0;OQ=9386.74;QD=42.47;RankSumP=1.00000;SB=-3656.72;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.606G>A;refseq.codonCoord=202;refseq.end=21173118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1382;refseq.name=NM_080764;refseq.name2=ZNF280B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S202S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=674;refseq.start=21173118;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/1 chr22 21198493 . G T 354.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.08;MQ0=0;OQ=4709.10;QD=34.63;RankSumP=0.0969564;SB=-1915.16;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1462C>A;refseq.codonCoord=488;refseq.end=21198493;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1715;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R488S;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-433;refseq.start=21198493;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr22 21198497 . G C 253 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=98.06;MQ0=0;OQ=5866.42;QD=43.78;RankSumP=0.0787626;SB=-2194.82;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1458C>G;refseq.codonCoord=486;refseq.end=21198497;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1711;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.F486L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-437;refseq.start=21198497;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr22 21198773 . G A 136.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=321;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=57.37;MQ0=95;OQ=7921.14;QD=24.68;RankSumP=0.204203;SB=-3553.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1182C>T;refseq.codonCoord=394;refseq.end=21198773;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1435;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y394Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-713;refseq.start=21198773;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr22 21198776 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=1;HaplotypeScore=19.99;MQ=56.66;MQ0=99;OQ=7633.98;QD=24.47;RankSumP=0.150292;SB=-3165.96;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1179C>T;refseq.codonCoord=393;refseq.end=21198776;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1432;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P393P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-716;refseq.start=21198776;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chr22 21198952 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1003A>C;refseq.codonCoord=335;refseq.end=21198952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T335P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-892;refseq.start=21198952;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 21199123 . T C 275.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=187;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=72.47;MQ0=12;OQ=6241.89;QD=33.38;RankSumP=0.281041;SB=-2720.94;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.832A>G;refseq.codonCoord=278;refseq.end=21199123;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1085;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N278D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=903;refseq.start=21199123;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/0 chr22 21199209 . C G 11.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=97.51;MQ0=0;OQ=9096.27;QD=48.13;RankSumP=0.448663;SB=-4212.31;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.746G>C;refseq.codonCoord=249;refseq.end=21199209;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=999;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.G249A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=817;refseq.start=21199209;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 1/0 chr22 21199218 . T C 392.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=97.54;MQ0=0;OQ=7787.27;QD=40.56;RankSumP=0.192569;SB=-3804.98;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.737A>G;refseq.codonCoord=246;refseq.end=21199218;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N246S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=808;refseq.start=21199218;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=filterInsoap-gatk GT 1/0 chr22 21199538 . A G 4725.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=18.96;MQ=96.22;MQ0=0;QD=38.11;RankSumP=0.0952381;SB=-1788.45;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.417T>C;refseq.codonCoord=139;refseq.end=21199538;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.D139D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=488;refseq.start=21199538;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap-filterIngatk GT 0/1 chr22 21199545 . T G 5046.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=96.43;MQ0=0;QD=37.66;RankSumP=0.0529471;SB=-2174.06;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.410A>C;refseq.codonCoord=137;refseq.end=21199545;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=663;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y137S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=481;refseq.start=21199545;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 1/0 chr22 21199548 . T C 5167.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=20.11;MQ=96.54;MQ0=0;QD=36.91;RankSumP=0.574389;SB=-2334.83;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.407A>G;refseq.codonCoord=136;refseq.end=21199548;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=660;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.N136S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=478;refseq.start=21199548;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chr22 21199649 . G C 227.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=98.95;MQ0=0;OQ=10549.22;QD=42.88;RankSumP=0.367342;SB=-4037.14;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.306C>G;refseq.codonCoord=102;refseq.end=21199649;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=559;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P102P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=377;refseq.start=21199649;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr22 21199742 . C A 305 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.75;MQ0=0;OQ=5937.66;QD=37.34;RankSumP=0.356437;SB=-1954.16;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.213G>T;refseq.codonCoord=71;refseq.end=21199742;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=466;refseq.name=NM_080740;refseq.name2=ZNF280A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K71N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=284;refseq.start=21199742;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr22 21220492 . G A 149.34 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.61;MQ0=0;OQ=2179.47;QD=39.63;RankSumP=1.00000;SB=-523.53;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.1527C>T;refseq.codingCoordStr_2=c.1527C>T;refseq.codingCoordStr_3=c.1527C>T;refseq.codingCoordStr_4=c.1527C>T;refseq.codingCoordStr_5=c.1527C>T;refseq.codonCoord_1=509;refseq.codonCoord_2=509;refseq.codonCoord_3=509;refseq.codonCoord_4=509;refseq.codonCoord_5=509;refseq.end_1=21220492;refseq.end_2=21220492;refseq.end_3=21220492;refseq.end_4=21220492;refseq.end_5=21220492;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1776;refseq.mrnaCoord_2=2390;refseq.mrnaCoord_3=1755;refseq.mrnaCoord_4=1834;refseq.mrnaCoord_5=1813;refseq.name2_1=PRAME;refseq.name2_2=PRAME;refseq.name2_3=PRAME;refseq.name2_4=PRAME;refseq.name2_5=PRAME;refseq.name_1=NM_006115;refseq.name_2=NM_206953;refseq.name_3=NM_206954;refseq.name_4=NM_206955;refseq.name_5=NM_206956;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.N509N;refseq.proteinCoordStr_2=p.N509N;refseq.proteinCoordStr_3=p.N509N;refseq.proteinCoordStr_4=p.N509N;refseq.proteinCoordStr_5=p.N509N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Asn;refseq.referenceAA_5=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.referenceCodon_4=AAC;refseq.referenceCodon_5=AAC;refseq.spliceDist_1=-370;refseq.spliceDist_2=-370;refseq.spliceDist_3=-370;refseq.spliceDist_4=-370;refseq.spliceDist_5=-370;refseq.start_1=21220492;refseq.start_2=21220492;refseq.start_3=21220492;refseq.start_4=21220492;refseq.start_5=21220492;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantCodon_1=AAT;refseq.variantCodon_2=AAT;refseq.variantCodon_3=AAT;refseq.variantCodon_4=AAT;refseq.variantCodon_5=AAT;set=Intersection GT 1/1 chr22 21220752 . A G 55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1014.02;QD=39.00;RankSumP=1.00000;SB=-450.62;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.1267T>C;refseq.codingCoordStr_2=c.1267T>C;refseq.codingCoordStr_3=c.1267T>C;refseq.codingCoordStr_4=c.1267T>C;refseq.codingCoordStr_5=c.1267T>C;refseq.codonCoord_1=423;refseq.codonCoord_2=423;refseq.codonCoord_3=423;refseq.codonCoord_4=423;refseq.codonCoord_5=423;refseq.end_1=21220752;refseq.end_2=21220752;refseq.end_3=21220752;refseq.end_4=21220752;refseq.end_5=21220752;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=2130;refseq.mrnaCoord_3=1495;refseq.mrnaCoord_4=1574;refseq.mrnaCoord_5=1553;refseq.name2_1=PRAME;refseq.name2_2=PRAME;refseq.name2_3=PRAME;refseq.name2_4=PRAME;refseq.name2_5=PRAME;refseq.name_1=NM_006115;refseq.name_2=NM_206953;refseq.name_3=NM_206954;refseq.name_4=NM_206955;refseq.name_5=NM_206956;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.L423L;refseq.proteinCoordStr_2=p.L423L;refseq.proteinCoordStr_3=p.L423L;refseq.proteinCoordStr_4=p.L423L;refseq.proteinCoordStr_5=p.L423L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceAA_5=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.referenceCodon_5=TTG;refseq.spliceDist_1=314;refseq.spliceDist_2=314;refseq.spliceDist_3=314;refseq.spliceDist_4=314;refseq.spliceDist_5=314;refseq.start_1=21220752;refseq.start_2=21220752;refseq.start_3=21220752;refseq.start_4=21220752;refseq.start_5=21220752;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;refseq.variantCodon_5=CTG;set=Intersection GT 1/1 chr22 21220792 . T C 317.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.51;MQ0=0;OQ=1612.56;QD=36.65;RankSumP=1.00000;SB=-361.57;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.1227A>G;refseq.codingCoordStr_2=c.1227A>G;refseq.codingCoordStr_3=c.1227A>G;refseq.codingCoordStr_4=c.1227A>G;refseq.codingCoordStr_5=c.1227A>G;refseq.codonCoord_1=409;refseq.codonCoord_2=409;refseq.codonCoord_3=409;refseq.codonCoord_4=409;refseq.codonCoord_5=409;refseq.end_1=21220792;refseq.end_2=21220792;refseq.end_3=21220792;refseq.end_4=21220792;refseq.end_5=21220792;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1476;refseq.mrnaCoord_2=2090;refseq.mrnaCoord_3=1455;refseq.mrnaCoord_4=1534;refseq.mrnaCoord_5=1513;refseq.name2_1=PRAME;refseq.name2_2=PRAME;refseq.name2_3=PRAME;refseq.name2_4=PRAME;refseq.name2_5=PRAME;refseq.name_1=NM_006115;refseq.name_2=NM_206953;refseq.name_3=NM_206954;refseq.name_4=NM_206955;refseq.name_5=NM_206956;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T409T;refseq.proteinCoordStr_2=p.T409T;refseq.proteinCoordStr_3=p.T409T;refseq.proteinCoordStr_4=p.T409T;refseq.proteinCoordStr_5=p.T409T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.referenceCodon_5=ACA;refseq.spliceDist_1=274;refseq.spliceDist_2=274;refseq.spliceDist_3=274;refseq.spliceDist_4=274;refseq.spliceDist_5=274;refseq.start_1=21220792;refseq.start_2=21220792;refseq.start_3=21220792;refseq.start_4=21220792;refseq.start_5=21220792;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;refseq.variantCodon_4=ACG;refseq.variantCodon_5=ACG;set=Intersection GT 1/1 chr22 21229234 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.0817629;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.19T>C;refseq.codingCoordStr_2=c.19T>C;refseq.codingCoordStr_3=c.19T>C;refseq.codingCoordStr_4=c.19T>C;refseq.codingCoordStr_5=c.19T>C;refseq.codonCoord_1=7;refseq.codonCoord_2=7;refseq.codonCoord_3=7;refseq.codonCoord_4=7;refseq.codonCoord_5=7;refseq.end_1=21229234;refseq.end_2=21229234;refseq.end_3=21229234;refseq.end_4=21229234;refseq.end_5=21229234;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=268;refseq.mrnaCoord_2=882;refseq.mrnaCoord_3=247;refseq.mrnaCoord_4=326;refseq.mrnaCoord_5=305;refseq.name2_1=PRAME;refseq.name2_2=PRAME;refseq.name2_3=PRAME;refseq.name2_4=PRAME;refseq.name2_5=PRAME;refseq.name_1=NM_006115;refseq.name_2=NM_206953;refseq.name_3=NM_206954;refseq.name_4=NM_206955;refseq.name_5=NM_206956;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.W7R;refseq.proteinCoordStr_2=p.W7R;refseq.proteinCoordStr_3=p.W7R;refseq.proteinCoordStr_4=p.W7R;refseq.proteinCoordStr_5=p.W7R;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceAA_4=Trp;refseq.referenceAA_5=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.referenceCodon_4=TGG;refseq.referenceCodon_5=TGG;refseq.spliceDist_1=-3;refseq.spliceDist_2=-3;refseq.spliceDist_3=-3;refseq.spliceDist_4=-3;refseq.spliceDist_5=-3;refseq.spliceInfo_1=splice-donor_-3;refseq.spliceInfo_2=splice-donor_-3;refseq.spliceInfo_3=splice-donor_-3;refseq.spliceInfo_4=splice-donor_-3;refseq.spliceInfo_5=splice-donor_-3;refseq.start_1=21229234;refseq.start_2=21229234;refseq.start_3=21229234;refseq.start_4=21229234;refseq.start_5=21229234;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;refseq.variantCodon_5=CGG;set=FilteredInAll GT 0/1 chr22 21318911 . G A 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=17.54;MQ0=18;OQ=233.42;QD=7.29;RankSumP=1.00000;SB=-120.99;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.96G>A;refseq.codonCoord=32;refseq.end=21318911;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_199127;refseq.name2=GGTLC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P32P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-81;refseq.start=21318911;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/1 chr22 21319256 . A G 40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=54.81;MQ0=8;OQ=850.56;QD=25.77;RankSumP=1.00000;SB=-415.84;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.209A>G;refseq.codonCoord=70;refseq.end=21319256;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=243;refseq.name=NM_199127;refseq.name2=GGTLC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E70G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=33;refseq.start=21319256;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chr22 21768191 . C T 162.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=97.92;MQ0=0;OQ=1701.00;QD=14.54;RankSumP=0.398684;SB=-280.27;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.309C>T;refseq.codonCoord_2=103;refseq.end_1=21806202;refseq.end_2=21768191;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=846;refseq.name2_1=RTDR1;refseq.name2_2=GNAZ;refseq.name_1=NM_014433;refseq.name_2=NM_002073;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D103D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=-415;refseq.start_1=21736322;refseq.start_2=21768191;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr22 21812460 . A G 118.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=3.47;MQ=98.81;MQ0=0;OQ=2572.10;QD=17.86;RankSumP=0.140577;SB=-1118.29;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.148T>C;refseq.codonCoord=50;refseq.end=21812460;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=306;refseq.name=NM_014433;refseq.name2=RTDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L50L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-52;refseq.start=21812460;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr22 21812483 . G A 168.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=13.14;MQ=98.83;MQ0=0;OQ=2592.55;QD=16.94;RankSumP=0.375432;SB=-1087.09;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.125C>T;refseq.codonCoord=42;refseq.end=21812483;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_014433;refseq.name2=RTDR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T42M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-75;refseq.start=21812483;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/0 chr22 21833121 . G A 211.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=98.91;MQ0=0;OQ=1368.88;QD=15.92;RankSumP=0.338856;SB=-285.13;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.873G>A;refseq.codonCoord=291;refseq.end=21833121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=913;refseq.name=NM_004914;refseq.name2=RAB36;refseq.positionType=CDS;refseq.proteinCoordStr=p.S291S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=56;refseq.start=21833121;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chr22 21833170 . A G 170.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.36;MQ=98.46;MQ0=0;OQ=763.67;QD=15.59;RankSumP=0.486974;SB=-208.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.922A>G;refseq.codonCoord=308;refseq.end=21833170;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=962;refseq.name=NM_004914;refseq.name2=RAB36;refseq.positionType=CDS;refseq.proteinCoordStr=p.N308D;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-16;refseq.start=21833170;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr22 21853630 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=97.23;MQ0=0;OQ=1157.49;QD=13.78;RankSumP=0.464769;SB=-313.28;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.483C>A;refseq.codingCoordStr_2=c.483C>A;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.end_1=21853630;refseq.end_2=21853630;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1079;refseq.mrnaCoord_2=1079;refseq.name2_1=BCR;refseq.name2_2=BCR;refseq.name_1=NM_004327;refseq.name_2=NM_021574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I161I;refseq.proteinCoordStr_2=p.I161I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=-797;refseq.spliceDist_2=-797;refseq.start_1=21853630;refseq.start_2=21853630;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=Intersection GT 1/0 chr22 21926020 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1314C>G;refseq.codingCoordStr_2=c.1314C>G;refseq.codonCoord_1=438;refseq.codonCoord_2=438;refseq.end_1=21926020;refseq.end_2=21926020;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1910;refseq.mrnaCoord_2=1910;refseq.name2_1=BCR;refseq.name2_2=BCR;refseq.name_1=NM_004327;refseq.name_2=NM_021574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C438W;refseq.proteinCoordStr_2=p.C438W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=21926020;refseq.start_2=21926020;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=FilteredInAll GT 1/0 chr22 21957369 . A G 326.89 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=993.27;QD=38.20;RankSumP=1.00000;SB=-232.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2387A>G;refseq.codingCoordStr_2=c.2387A>G;refseq.codonCoord_1=796;refseq.codonCoord_2=796;refseq.end_1=21957369;refseq.end_2=21957369;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2983;refseq.mrnaCoord_2=2983;refseq.name2_1=BCR;refseq.name2_2=BCR;refseq.name_1=NM_004327;refseq.name_2=NM_021574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N796S;refseq.proteinCoordStr_2=p.N796S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.start_1=21957369;refseq.start_2=21957369;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chr22 21985084 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=521;Dels=0.00;HRun=0;HaplotypeScore=15.47;MQ=47.38;MQ0=317;OQ=2603.89;QD=5.00;RankSumP=0.471792;SB=-986.44;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3333C>T;refseq.codingCoordStr_2=c.3201C>T;refseq.codonCoord_1=1111;refseq.codonCoord_2=1067;refseq.end_1=21985084;refseq.end_2=21985084;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3929;refseq.mrnaCoord_2=3797;refseq.name2_1=BCR;refseq.name2_2=BCR;refseq.name_1=NM_004327;refseq.name_2=NM_021574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D1111D;refseq.proteinCoordStr_2=p.D1067D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=21985084;refseq.start_2=21985084;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chr22 21987664 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=178;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=94.80;MQ0=0;OQ=3199.97;QD=17.98;RankSumP=0.359789;SB=-1390.05;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3771C>T;refseq.codingCoordStr_2=c.3639C>T;refseq.codonCoord_1=1257;refseq.codonCoord_2=1213;refseq.end_1=21987664;refseq.end_2=21987664;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4367;refseq.mrnaCoord_2=4235;refseq.name2_1=BCR;refseq.name2_2=BCR;refseq.name_1=NM_004327;refseq.name_2=NM_021574;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1257A;refseq.proteinCoordStr_2=p.A1213A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=21987664;refseq.start_2=21987664;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chr22 22245574 . G A 65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=623;Dels=0.00;HRun=0;HaplotypeScore=41.23;MQ=44.73;MQ0=123;OQ=2824.88;QD=4.53;RankSumP=0.113723;SB=-881.13;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.521C>T;refseq.codingCoordStr_2=c.*150C>T;refseq.codonCoord_1=174;refseq.end_1=22245574;refseq.end_2=22245574;refseq.frame_1=1;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=523;refseq.name2_1=IGLL1;refseq.name2_2=IGLL1;refseq.name_1=NM_020070;refseq.name_2=NM_152855;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A174V;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCG;refseq.spliceDist_1=199;refseq.spliceDist_2=199;refseq.start_1=22245574;refseq.start_2=22245574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantCodon_1=GTG;set=soap-filterIngatk GT 1/0 chr22 22304104 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=1;RankSumP=3.03678e-05;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.107C>G;refseq.codonCoord=36;refseq.end=22304104;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=384;refseq.name=NM_016449;refseq.name2=C22orf43;refseq.positionType=CDS;refseq.proteinCoordStr=p.A36G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-102;refseq.start=22304104;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chr22 22364288 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=0.99;MQ=99.00;MQ0=0;OQ=495.40;QD=8.69;RankSumP=0.556004;SB=-171.98;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.71A>G;refseq.codonCoord_2=24;refseq.end_1=22366295;refseq.end_2=22364288;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1241;refseq.name2_1=LOC91316;refseq.name2_2=RGL4;refseq.name_1=NR_024448;refseq.name_2=NM_153615;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.Q24R;refseq.referenceAA_2=Gln;refseq.referenceCodon_2=CAG;refseq.spliceDist_2=-109;refseq.start_1=22362554;refseq.start_2=22364288;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 0/1 chr22 22365970 . C T 352.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=360;Dels=0.00;HRun=0;HaplotypeScore=4.73;MQ=98.77;MQ0=0;OQ=6890.36;QD=19.14;RankSumP=0.167708;SB=-2272.80;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.721C>T;refseq.codonCoord_2=241;refseq.end_1=22366295;refseq.end_2=22365970;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1891;refseq.name2_1=LOC91316;refseq.name2_2=RGL4;refseq.name_1=NR_024448;refseq.name_2=NM_153615;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H241Y;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=25;refseq.start_1=22362554;refseq.start_2=22365970;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=Intersection GT 0/1 chr22 22368847 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=1.82;MQ=97.57;MQ0=0;OQ=545.54;QD=13.64;RankSumP=0.529616;SB=-206.97;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1133T>C;refseq.codonCoord_2=378;refseq.end_1=22372902;refseq.end_2=22368847;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2303;refseq.name2_1=LOC91316;refseq.name2_2=RGL4;refseq.name_1=NR_024448;refseq.name_2=NM_153615;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V378A;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=-29;refseq.start_1=22367715;refseq.start_2=22368847;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr22 22438412 . G A 306.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.82;MQ0=0;OQ=1396.30;QD=37.74;RankSumP=1.00000;SB=-91.34;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.312C>T;refseq.codonCoord=104;refseq.end=22438412;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_213720;refseq.name2=CHCHD10;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y104Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=51;refseq.start=22438412;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr22 22451378 . C T 25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=92.33;MQ0=0;OQ=529.59;QD=26.48;RankSumP=1.00000;SB=-254.01;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.113C>T;refseq.codonCoord=38;refseq.end=22451378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_005940;refseq.name2=MMP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.A38V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=22451378;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/1 chr22 22630634 rs2227965 G T 0.05 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=7.44;MQ0=64;OQ=109.21;QD=1.33;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.363C>A;refseq.codingCoordStr_2=c.363C>A;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.end_1=22630634;refseq.end_2=22630634;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=438;refseq.mrnaCoord_2=413;refseq.name2_1=GSTT2;refseq.name2_2=GSTT2B;refseq.name_1=NM_000854;refseq.name_2=NM_001080843;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P121P;refseq.proteinCoordStr_2=p.P121P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.start_1=22630634;refseq.start_2=22630634;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=gatk GT:AD:DP:GL:GQ 1/1:1,80:4:-14.46,-1.20,-0.00:12.04 chr22 22632486 . A G 42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.195T>C;refseq.codingCoordStr_2=c.195T>C;refseq.codonCoord_1=65;refseq.codonCoord_2=65;refseq.end_1=22632486;refseq.end_2=22632486;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=270;refseq.mrnaCoord_2=245;refseq.name2_1=GSTT2;refseq.name2_2=GSTT2B;refseq.name_1=NM_000854;refseq.name_2=NM_001080843;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T65T;refseq.proteinCoordStr_2=p.T65T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=22632486;refseq.start_2=22632486;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=soap GT 1/1 chr22 22655095 . A G 17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.73;MQ0=36;OQ=247.00;QD=5.61;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.385A>G;refseq.codonCoord=129;refseq.end=22655095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=460;refseq.name=NM_000854;refseq.name2=GSTT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K129E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=34;refseq.start=22655095;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=filterInsoap-gatk GT 1/1 chr22 22709402 . T G 137.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=183;Dels=0.00;HRun=1;HaplotypeScore=7.90;MQ=98.84;MQ0=0;OQ=3029.20;QD=16.55;RankSumP=0.00129250;SB=-1398.67;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.310A>C;refseq.codonCoord=104;refseq.end=22709402;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=363;refseq.name=NM_000853;refseq.name2=GSTT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104P;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-42;refseq.start=22709402;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 1/0 chr22 22789438 . T C 81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=897;Dels=0.00;HRun=2;HaplotypeScore=16.49;MQ=98.82;MQ0=0;OQ=36331.62;QD=40.50;RankSumP=1.00000;SB=-14613.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1713T>C;refseq.codonCoord=571;refseq.end=22789438;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1840;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C571C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=17;refseq.start=22789438;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap-filterIngatk GT 1/1 chr22 22798386 . G A 258.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=10.43;MQ=98.78;MQ0=0;OQ=5413.66;QD=18.80;RankSumP=0.407265;SB=-1957.74;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2558G>A;refseq.codonCoord=853;refseq.end=22798386;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2685;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R853Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-75;refseq.start=22798386;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chr22 22813439 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3298G>C;refseq.codonCoord=1100;refseq.end=22813439;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3425;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1100P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=35;refseq.start=22813439;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 22824089 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4051A>C;refseq.codonCoord=1351;refseq.end=22824089;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4178;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1351P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-67;refseq.start=22824089;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr22 22845411 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4378A>C;refseq.codonCoord=1460;refseq.end=22845411;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4505;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1460P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=78;refseq.start=22845411;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 22845533 . T G 75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.500007;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.4500T>G;refseq.codonCoord=1500;refseq.end=22845533;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4627;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1500G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-133;refseq.start=22845533;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 1/0 chr22 22894477 . C T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=99.00;MQ0=0;OQ=272.53;QD=12.39;RankSumP=0.602974;SB=-129.11;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.5745C>T;refseq.codonCoord=1915;refseq.end=22894477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5872;refseq.name=NM_012295;refseq.name2=CABIN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1915A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-13;refseq.start=22894477;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr22 22909049 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=515;Dels=0.00;HRun=0;HaplotypeScore=15.18;MQ=39.97;MQ0=208;OQ=2621.29;QD=5.09;RankSumP=0.148882;SB=-302.69;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.101G>A;refseq.codonCoord=34;refseq.end=22909049;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=145;refseq.name=NM_019601;refseq.name2=SUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R34H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=25;refseq.start=22909049;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chr22 22909157 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=284;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=35.78;MQ0=103;OQ=1333.83;QD=4.70;RankSumP=0.438678;SB=-161.26;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.209G>T;refseq.codonCoord=70;refseq.end=22909157;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=253;refseq.name=NM_019601;refseq.name2=SUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70V;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-79;refseq.start=22909157;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=soap-filterIngatk GT 0/1 chr22 22909158 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=275;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=34.98;MQ0=104;OQ=1358.30;QD=4.94;RankSumP=0.138220;SB=-140.09;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.210A>C;refseq.codonCoord=70;refseq.end=22909158;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=254;refseq.name=NM_019601;refseq.name2=SUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-78;refseq.start=22909158;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=soap-filterIngatk GT 0/1 chr22 22909219 rs399140 G A 23.21 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=25.77;MQ0=93;QD=0.22;SB=11.06;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.271G>A;refseq.codonCoord=91;refseq.end=22909219;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=315;refseq.name=NM_019601;refseq.name2=SUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A91T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-17;refseq.start=22909219;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:86,18:9:-8.31,-2.71,-25.47:56.03 chr22 22914027 . C A 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=17;DP=59;Dels=0.00;HRun=1;HaplotypeScore=17.38;MQ=97.44;MQ0=0;OQ=58.22;QD=0.99;RankSumP=0.549644;SB=35.12;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2265C>A;refseq.codonCoord=755;refseq.end=22914027;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2309;refseq.name=NM_019601;refseq.name2=SUSD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y755*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-77;refseq.start=22914027;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=soap-filterIngatk GT 1/0 chr22 22952155 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.500001;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1118T>C;refseq.codingCoordStr_2=c.1022T>C;refseq.codingCoordStr_3=c.1118T>C;refseq.codonCoord_1=373;refseq.codonCoord_2=341;refseq.codonCoord_3=373;refseq.end_1=22952155;refseq.end_2=22952155;refseq.end_3=22952155;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1535;refseq.mrnaCoord_2=1439;refseq.mrnaCoord_3=1535;refseq.name2_1=GGT5;refseq.name2_2=GGT5;refseq.name2_3=GGT5;refseq.name_1=NM_001099781;refseq.name_2=NM_001099782;refseq.name_3=NM_004121;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L373P;refseq.proteinCoordStr_2=p.L341P;refseq.proteinCoordStr_3=p.L373P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.start_1=22952155;refseq.start_2=22952155;refseq.start_3=22952155;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr22 22958928 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=97.14;MQ0=0;OQ=226.50;QD=13.32;RankSumP=0.643434;SB=-78.06;SecondBestBaseQ=21;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.459C>T;refseq.codingCoordStr_2=c.363C>T;refseq.codingCoordStr_3=c.459C>T;refseq.codonCoord_1=153;refseq.codonCoord_2=121;refseq.codonCoord_3=153;refseq.end_1=22958928;refseq.end_2=22958928;refseq.end_3=22958928;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=876;refseq.mrnaCoord_2=780;refseq.mrnaCoord_3=876;refseq.name2_1=GGT5;refseq.name2_2=GGT5;refseq.name2_3=GGT5;refseq.name_1=NM_001099781;refseq.name_2=NM_001099782;refseq.name_3=NM_004121;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R153R;refseq.proteinCoordStr_2=p.R121R;refseq.proteinCoordStr_3=p.R153R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.spliceDist_3=59;refseq.start_1=22958928;refseq.start_2=22958928;refseq.start_3=22958928;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr22 23047850 . A G 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=468;Dels=0.00;HRun=1;HaplotypeScore=5.55;MQ=98.84;MQ0=0;OQ=19035.00;QD=40.67;RankSumP=1.00000;SB=-9398.17;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.902A>G;refseq.codingCoordStr_2=c.902A>G;refseq.codonCoord_1=301;refseq.codonCoord_2=301;refseq.end_1=23047850;refseq.end_2=23047850;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1105;refseq.mrnaCoord_2=1209;refseq.name2_1=CYTSA;refseq.name2_2=CYTSA;refseq.name_1=NM_001145468;refseq.name_2=NM_015330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D301G;refseq.proteinCoordStr_2=p.D301G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.spliceDist_1=595;refseq.spliceDist_2=595;refseq.start_1=23047850;refseq.start_2=23047850;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/1 chr22 23091467 . G A 46.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=261;Dels=0.00;HRun=2;HaplotypeScore=13.33;MQ=98.03;MQ0=0;OQ=9911.31;QD=37.97;RankSumP=1.00000;SB=-1605.59;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2851G>A;refseq.codingCoordStr_2=c.2851G>A;refseq.codonCoord_1=951;refseq.codonCoord_2=951;refseq.end_1=23091467;refseq.end_2=23091467;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3054;refseq.mrnaCoord_2=3158;refseq.name2_1=CYTSA;refseq.name2_2=CYTSA;refseq.name_1=NM_001145468;refseq.name_2=NM_015330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V951M;refseq.proteinCoordStr_2=p.V951M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=23091467;refseq.start_2=23091467;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr22 23091500 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2884T>C;refseq.codingCoordStr_2=c.2884T>C;refseq.codonCoord_1=962;refseq.codonCoord_2=962;refseq.end_1=23091500;refseq.end_2=23091500;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3087;refseq.mrnaCoord_2=3191;refseq.name2_1=CYTSA;refseq.name2_2=CYTSA;refseq.name_1=NM_001145468;refseq.name_2=NM_015330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S962P;refseq.proteinCoordStr_2=p.S962P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=23091500;refseq.start_2=23091500;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;set=FilteredInAll GT 1/0 chr22 23091502 . G C 73 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=1.08165e-09;SecondBestBaseQ=20;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2886G>C;refseq.codingCoordStr_2=c.2886G>C;refseq.codonCoord_1=962;refseq.codonCoord_2=962;refseq.end_1=23091502;refseq.end_2=23091502;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3089;refseq.mrnaCoord_2=3193;refseq.name2_1=CYTSA;refseq.name2_2=CYTSA;refseq.name_1=NM_001145468;refseq.name_2=NM_015330;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S962S;refseq.proteinCoordStr_2=p.S962S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=23091502;refseq.start_2=23091502;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chr22 23167301 . T C 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=99.00;MQ0=0;OQ=112.67;QD=3.89;RankSumP=0.704060;SB=26.10;SecondBestBaseQ=27;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_3=c.1083T>C;refseq.codonCoord_3=361;refseq.end_1=23167949;refseq.end_2=23167949;refseq.end_3=23167301;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=1542;refseq.name2_1=C22orf45;refseq.name2_2=C22orf45;refseq.name2_3=ADORA2A;refseq.name_1=NR_028484;refseq.name_2=NR_028483;refseq.name_3=NM_000675;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=non_coding_intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.Y361Y;refseq.referenceAA_3=Tyr;refseq.referenceCodon_3=TAT;refseq.spliceDist_3=751;refseq.start_1=23158413;refseq.start_2=23165546;refseq.start_3=23167301;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Tyr;refseq.variantCodon_3=TAC;set=soap-filterIngatk GT 1/0 chr22 23221418 . A C 51 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=121;Dels=0.00;HRun=2;HaplotypeScore=12.95;MQ=97.94;MQ0=0;OQ=100.64;QD=0.83;RankSumP=9.18048e-07;SB=140.40;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.47A>C;refseq.codonCoord=16;refseq.end=23221418;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_016327;refseq.name2=UPB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H16P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-58;refseq.start=23221418;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 23269827 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=2.73849e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.611A>C;refseq.codonCoord=204;refseq.end=23269827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=927;refseq.name=NM_031444;refseq.name2=C22orf13;refseq.positionType=CDS;refseq.proteinCoordStr=p.N204T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-18;refseq.start=23269827;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr22 23294128 . T C 158.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=4.30;MQ=96.71;MQ0=0;OQ=2758.38;QD=38.85;RankSumP=1.00000;SB=-615.23;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.303T>C;refseq.codonCoord=101;refseq.end=23294128;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=743;refseq.name=NM_004175;refseq.name2=SNRPD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A101A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-17;refseq.start=23294128;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr22 23311852 . G C 27.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=2.29;RankSumP=0.677778;SB=-33.39;SecondBestBaseQ=33;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.*2C>G;refseq.end_1=23333910;refseq.end_2=23311852;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_2=979;refseq.name2_1=GGT1;refseq.name2_2=C22orf36;refseq.name_1=NM_013430;refseq.name_2=NM_207644;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=utr3;refseq.spliceDist_2=-262;refseq.start_1=23309787;refseq.start_2=23311852;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chr22 23311866 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.555556;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.936C>A;refseq.codonCoord_2=312;refseq.end_1=23333910;refseq.end_2=23311866;refseq.frame_2=2;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=965;refseq.name2_1=GGT1;refseq.name2_2=C22orf36;refseq.name_1=NM_013430;refseq.name_2=NM_207644;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.C312*;refseq.referenceAA_2=Cys;refseq.referenceCodon_2=TGC;refseq.spliceDist_2=-276;refseq.start_1=23309787;refseq.start_2=23311866;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Stop;refseq.variantCodon_2=TGA;set=FilteredInAll GT 0/1 chr22 23311938 . C T 102.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=94.89;MQ0=0;OQ=481.04;QD=16.59;RankSumP=0.489944;SB=-126.97;SecondBestBaseQ=30;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.864G>A;refseq.codonCoord_2=288;refseq.end_1=23333910;refseq.end_2=23311938;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=893;refseq.name2_1=GGT1;refseq.name2_2=C22orf36;refseq.name_1=NM_013430;refseq.name_2=NM_207644;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A288A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=-348;refseq.start_1=23309787;refseq.start_2=23311938;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chr22 23346929 . A C 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.0333944;SecondBestBaseQ=14;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.625A>C;refseq.codingCoordStr_2=c.625A>C;refseq.codingCoordStr_3=c.625A>C;refseq.codingCoordStr_4=c.625A>C;refseq.codonCoord_1=209;refseq.codonCoord_2=209;refseq.codonCoord_3=209;refseq.codonCoord_4=209;refseq.end_1=23346929;refseq.end_2=23346929;refseq.end_3=23346929;refseq.end_4=23346929;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1051;refseq.mrnaCoord_2=1095;refseq.mrnaCoord_3=1162;refseq.mrnaCoord_4=1112;refseq.name2_1=GGT1;refseq.name2_2=GGT1;refseq.name2_3=GGT1;refseq.name2_4=GGT1;refseq.name_1=NM_001032364;refseq.name_2=NM_001032365;refseq.name_3=NM_005265;refseq.name_4=NM_013430;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T209P;refseq.proteinCoordStr_2=p.T209P;refseq.proteinCoordStr_3=p.T209P;refseq.proteinCoordStr_4=p.T209P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=50;refseq.spliceDist_2=50;refseq.spliceDist_3=50;refseq.spliceDist_4=50;refseq.start_1=23346929;refseq.start_2=23346929;refseq.start_3=23346929;refseq.start_4=23346929;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=soap GT 0/1 chr22 23347036 rs56214106 C T 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.62;MQ0=5;OQ=60.05;QD=3.34;SB=-6.99;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.732C>T;refseq.codingCoordStr_2=c.732C>T;refseq.codingCoordStr_3=c.732C>T;refseq.codingCoordStr_4=c.732C>T;refseq.codonCoord_1=244;refseq.codonCoord_2=244;refseq.codonCoord_3=244;refseq.codonCoord_4=244;refseq.end_1=23347036;refseq.end_2=23347036;refseq.end_3=23347036;refseq.end_4=23347036;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1158;refseq.mrnaCoord_2=1202;refseq.mrnaCoord_3=1269;refseq.mrnaCoord_4=1219;refseq.name2_1=GGT1;refseq.name2_2=GGT1;refseq.name2_3=GGT1;refseq.name2_4=GGT1;refseq.name_1=NM_001032364;refseq.name_2=NM_001032365;refseq.name_3=NM_005265;refseq.name_4=NM_013430;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A244A;refseq.proteinCoordStr_2=p.A244A;refseq.proteinCoordStr_3=p.A244A;refseq.proteinCoordStr_4=p.A244A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.spliceInfo_4=splice-donor_-2;refseq.start_1=23347036;refseq.start_2=23347036;refseq.start_3=23347036;refseq.start_4=23347036;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;refseq.variantCodon_4=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:9,9:12:-12.90,-3.61,-33.44:92.89 chr22 23454143 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=437;Dels=0.00;HRun=0;HaplotypeScore=11.06;MQ=98.84;MQ0=0;OQ=7971.20;QD=18.24;RankSumP=0.311425;SB=-1141.65;SecondBestBaseQ=33;refseq.chr=chr22;refseq.codingCoordStr=c.1932+1;refseq.end=23454143;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_001008496;refseq.name2=PIWIL3;refseq.positionType=intron;refseq.spliceDist=1;refseq.spliceInfo=splice-donor_1;refseq.start=23454143;refseq.transcriptStrand=-;set=Intersection GT 0/1 chr22 23474912 . C T 190.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.73;MQ0=0;OQ=5512.01;QD=21.53;RankSumP=0.249267;SB=-2357.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1411G>A;refseq.codonCoord=471;refseq.end=23474912;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1828;refseq.name=NM_001008496;refseq.name2=PIWIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V471I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-39;refseq.start=23474912;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 0/1 chr22 23475453 . C T 393.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.81;MQ0=0;OQ=7915.02;QD=41.88;RankSumP=1.00000;SB=-973.76;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1252G>A;refseq.codonCoord=418;refseq.end=23475453;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1669;refseq.name=NM_001008496;refseq.name2=PIWIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V418M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=36;refseq.start=23475453;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr22 23475471 . A G 380.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.70;MQ0=0;OQ=4542.92;QD=38.83;RankSumP=1.00000;SB=-751.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1234T>C;refseq.codonCoord=412;refseq.end=23475471;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1651;refseq.name=NM_001008496;refseq.name2=PIWIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C412R;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=18;refseq.start=23475471;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chr22 23475757 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1119A>C;refseq.codonCoord=373;refseq.end=23475757;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1536;refseq.name=NM_001008496;refseq.name2=PIWIL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K373N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=30;refseq.start=23475757;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chr22 23661450 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.240T>G;refseq.codonCoord=80;refseq.end=23661450;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=265;refseq.name=NM_001001663;refseq.name2=TMEM211;refseq.positionType=CDS;refseq.proteinCoordStr=p.G80G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=113;refseq.start=23661450;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 23664114 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr22;refseq.codingCoordStr=c.127+2;refseq.end=23664114;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_001001663;refseq.name2=TMEM211;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=23664114;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr22 23931196 . C G 208.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.67;MQ0=0;OQ=10601.24;QD=46.50;RankSumP=1.00000;SB=-4928.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.337C>G;refseq.codonCoord=113;refseq.end=23931196;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_004076;refseq.name2=CRYBB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H113D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=23931196;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/1 chr22 23933015 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.472T>G;refseq.codonCoord=158;refseq.end=23933015;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=544;refseq.name=NM_004076;refseq.name2=CRYBB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W158G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=23933015;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 23953825 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.179T>G;refseq.codonCoord=60;refseq.end=23953825;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_000496;refseq.name2=CRYBB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V60G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=23953825;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 23957604 . G A 328.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=87.10;MQ0=1;OQ=4507.68;QD=36.65;RankSumP=1.00000;SB=-2026.66;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=23957604;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=531;refseq.name=NM_000496;refseq.name2=CRYBB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G161G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=34;refseq.start=23957604;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/1 chr22 24044110 . T C 177.59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=75.86;MQ0=4;OQ=2061.64;QD=32.72;RankSumP=1.00000;SB=-1040.06;SecondBestBaseQ=0;set=Intersection GT 1/1 chr22 24044113 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=75.74;MQ0=5;OQ=2043.35;QD=32.43;RankSumP=1.00000;SB=-868.35;SecondBestBaseQ=0;set=Intersection GT 1/1 chr22 24045923 . G A 91 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=293;Dels=0.00;HRun=1;HaplotypeScore=14.44;MQ=38.62;MQ0=234;OQ=2271.07;QD=7.75;RankSumP=1.00000;SB=-636.85;SecondBestBaseQ=2;refseq.chr=chr22;refseq.end=24045923;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=405;refseq.name=NR_029395;refseq.name2=IGLL3;refseq.positionType=non_coding_exon;refseq.spliceDist=190;refseq.start=24045923;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr22 24045931 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=243;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=41.39;MQ0=188;OQ=1505.61;QD=6.20;RankSumP=1.00000;SB=-399.83;SecondBestBaseQ=2;refseq.chr=chr22;refseq.end=24045931;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=413;refseq.name=NR_029395;refseq.name2=IGLL3;refseq.positionType=non_coding_exon;refseq.spliceDist=198;refseq.start=24045931;refseq.transcriptStrand=+;set=Intersection GT 1/1 chr22 24083321 . G A 251.66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=267;Dels=0.00;HRun=0;HaplotypeScore=7.39;MQ=96.13;MQ0=2;OQ=9328.84;QD=34.94;RankSumP=1.00000;SB=-3438.67;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.339C>T;refseq.codingCoordStr_2=c.339C>T;refseq.codonCoord_1=113;refseq.codonCoord_2=113;refseq.end_1=24083321;refseq.end_2=24083321;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=2804;refseq.name2_1=LRP5L;refseq.name2_2=LRP5L;refseq.name_1=NM_001135772;refseq.name_2=NM_182492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R113R;refseq.proteinCoordStr_2=p.R113R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=24083321;refseq.start_2=24083321;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 1/1 chr22 25018831 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=3;HaplotypeScore=7.71;MQ=97.86;MQ0=0;OQ=2448.42;QD=13.68;RankSumP=0.0698240;SB=-831.87;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.554G>T;refseq.codonCoord_2=185;refseq.end_1=25125539;refseq.end_2=25018831;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=710;refseq.name2_1=MIR1302-1;refseq.name2_2=SEZ6L;refseq.name_1=NR_031631;refseq.name_2=NM_021115;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.W185L;refseq.referenceAA_2=Trp;refseq.referenceCodon_2=TGG;refseq.spliceDist_2=-282;refseq.start_1=24793743;refseq.start_2=25018831;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=TTG;set=Intersection GT 0/1 chr22 25039766 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=538;Dels=0.00;HRun=4;HaplotypeScore=32.28;MQ=98.63;MQ0=0;OQ=406.82;QD=0.76;RankSumP=0.00000;SB=874.79;SecondBestBaseQ=14;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1913T>G;refseq.codonCoord_2=638;refseq.end_1=25125539;refseq.end_2=25039766;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2069;refseq.name2_1=MIR1302-1;refseq.name2_2=SEZ6L;refseq.name_1=NR_031631;refseq.name_2=NM_021115;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V638G;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTG;refseq.spliceDist_2=37;refseq.start_1=24793743;refseq.start_2=25039766;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr22 25073828 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.2356A>C;refseq.codonCoord_2=786;refseq.end_1=25125539;refseq.end_2=25073828;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2512;refseq.name2_1=MIR1302-1;refseq.name2_2=SEZ6L;refseq.name_1=NR_031631;refseq.name_2=NM_021115;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T786P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_2=-52;refseq.start_1=24793743;refseq.start_2=25073828;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr22 25103659 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.2963T>C;refseq.codonCoord_2=988;refseq.end_1=25125539;refseq.end_2=25103659;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3119;refseq.name2_1=MIR1302-1;refseq.name2_2=SEZ6L;refseq.name_1=NR_031631;refseq.name_2=NM_021115;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L988P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_2=21;refseq.start_1=24793743;refseq.start_2=25103659;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 25103662 . G C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=170;Dels=0.00;HRun=2;HaplotypeScore=4.06;MQ=97.78;MQ0=0;OQ=124.56;QD=0.73;RankSumP=0.00000;SB=333.15;SecondBestBaseQ=20;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.2966G>C;refseq.codonCoord_2=989;refseq.end_1=25125539;refseq.end_2=25103662;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=3122;refseq.name2_1=MIR1302-1;refseq.name2_2=SEZ6L;refseq.name_1=NR_031631;refseq.name_2=NM_021115;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R989P;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=24;refseq.start_1=24793743;refseq.start_2=25103662;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr22 25159679 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=372;Dels=0.00;HRun=2;HaplotypeScore=53.15;MQ=94.99;MQ0=0;OQ=449.52;QD=1.21;RankSumP=0.00000;SB=396.23;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.98T>G;refseq.codonCoord=33;refseq.end=25159679;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_020437;refseq.name2=ASPHD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V33G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=322;refseq.start=25159679;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 25183905 . C A 373.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=98.28;MQ0=0;OQ=5118.91;QD=36.83;RankSumP=1.00000;SB=-1432.70;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1875G>T;refseq.codingCoordStr_2=c.1860G>T;refseq.codonCoord_1=625;refseq.codonCoord_2=620;refseq.end_1=25183905;refseq.end_2=25183905;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2534;refseq.mrnaCoord_2=2064;refseq.name2_1=HPS4;refseq.name2_2=HPS4;refseq.name_1=NM_022081;refseq.name_2=NM_152841;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q625H;refseq.proteinCoordStr_2=p.Q620H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=29;refseq.spliceDist_2=29;refseq.start_1=25183905;refseq.start_2=25183905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr22 25184441 . G A 231.64 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=12.42;MQ=98.42;MQ0=0;OQ=14386.63;QD=37.56;RankSumP=1.00000;SB=-6269.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1816C>T;refseq.codingCoordStr_2=c.1801C>T;refseq.codonCoord_1=606;refseq.codonCoord_2=601;refseq.end_1=25184441;refseq.end_2=25184441;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2475;refseq.mrnaCoord_2=2005;refseq.name2_1=HPS4;refseq.name2_2=HPS4;refseq.name_1=NM_022081;refseq.name_2=NM_152841;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H606Y;refseq.proteinCoordStr_2=p.H601Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=-31;refseq.spliceDist_2=-31;refseq.start_1=25184441;refseq.start_2=25184441;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 1/1 chr22 25189942 . C T 194.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=96.67;MQ0=0;OQ=4656.31;QD=36.95;RankSumP=1.00000;SB=-847.59;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1654G>A;refseq.codingCoordStr_2=c.1639G>A;refseq.codonCoord_1=552;refseq.codonCoord_2=547;refseq.end_1=25189942;refseq.end_2=25189942;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2313;refseq.mrnaCoord_2=1843;refseq.name2_1=HPS4;refseq.name2_2=HPS4;refseq.name_1=NM_022081;refseq.name_2=NM_152841;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V552M;refseq.proteinCoordStr_2=p.V547M;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-60;refseq.spliceDist_2=-60;refseq.start_1=25189942;refseq.start_2=25189942;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=Intersection GT 1/1 chr22 25190269 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=5.92;MQ=98.88;MQ0=0;OQ=1159.07;QD=10.83;RankSumP=0.271001;SB=-535.62;SecondBestBaseQ=25;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1327C>G;refseq.codingCoordStr_2=c.1312C>G;refseq.codonCoord_1=443;refseq.codonCoord_2=438;refseq.end_1=25190269;refseq.end_2=25190269;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1986;refseq.mrnaCoord_2=1516;refseq.name2_1=HPS4;refseq.name2_2=HPS4;refseq.name_1=NM_022081;refseq.name_2=NM_152841;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L443V;refseq.proteinCoordStr_2=p.L438V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-387;refseq.spliceDist_2=-387;refseq.start_1=25190269;refseq.start_2=25190269;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr22 25192212 . T C 90.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=3875.52;QD=41.67;RankSumP=1.00000;SB=-1934.35;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.686A>G;refseq.codingCoordStr_2=c.671A>G;refseq.codonCoord_1=229;refseq.codonCoord_2=224;refseq.end_1=25192212;refseq.end_2=25192212;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1345;refseq.mrnaCoord_2=875;refseq.name2_1=HPS4;refseq.name2_2=HPS4;refseq.name_1=NM_022081;refseq.name_2=NM_152841;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E229G;refseq.proteinCoordStr_2=p.E224G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=25192212;refseq.start_2=25192212;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chr22 25214039 . G A 392.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1953.71;QD=39.87;RankSumP=1.00000;SB=-876.18;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.295G>A;refseq.codonCoord=99;refseq.end=25214039;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_001013694;refseq.name2=SRRD;refseq.positionType=CDS;refseq.proteinCoordStr=p.A99T;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=45;refseq.start=25214039;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr22 25225337 . G A 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=555;Dels=0.00;HRun=0;HaplotypeScore=30.88;MQ=98.46;MQ0=0;OQ=18670.90;QD=33.64;RankSumP=1.00000;SB=-5291.95;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1062C>T;refseq.codingCoordStr_2=c.1062C>T;refseq.codonCoord_1=354;refseq.codonCoord_2=354;refseq.end_1=25225337;refseq.end_2=25225337;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1389;refseq.mrnaCoord_2=1312;refseq.name2_1=TFIP11;refseq.name2_2=TFIP11;refseq.name_1=NM_001008697;refseq.name_2=NM_012143;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H354H;refseq.proteinCoordStr_2=p.H354H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=261;refseq.spliceDist_2=261;refseq.start_1=25225337;refseq.start_2=25225337;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 1/1 chr22 25258688 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1065A>C;refseq.codingCoordStr_2=c.1065A>C;refseq.codonCoord_1=355;refseq.codonCoord_2=355;refseq.end_1=25258688;refseq.end_2=25258688;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1406;refseq.mrnaCoord_2=1298;refseq.name2_1=TPST2;refseq.name2_2=TPST2;refseq.name_1=NM_001008566;refseq.name_2=NM_003595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T355T;refseq.proteinCoordStr_2=p.T355T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=25258688;refseq.start_2=25258688;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr22 25267214 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.383T>G;refseq.codingCoordStr_2=c.383T>G;refseq.codonCoord_1=128;refseq.codonCoord_2=128;refseq.end_1=25267214;refseq.end_2=25267214;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=724;refseq.mrnaCoord_2=616;refseq.name2_1=TPST2;refseq.name2_2=TPST2;refseq.name_1=NM_001008566;refseq.name_2=NM_003595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V128G;refseq.proteinCoordStr_2=p.V128G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-460;refseq.spliceDist_2=-460;refseq.start_1=25267214;refseq.start_2=25267214;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr22 25267327 . C G 197.87 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=98.09;MQ0=0;OQ=2757.59;QD=39.39;RankSumP=1.00000;SB=-824.36;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.270G>C;refseq.codingCoordStr_2=c.270G>C;refseq.codonCoord_1=90;refseq.codonCoord_2=90;refseq.end_1=25267327;refseq.end_2=25267327;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=611;refseq.mrnaCoord_2=503;refseq.name2_1=TPST2;refseq.name2_2=TPST2;refseq.name_1=NM_001008566;refseq.name_2=NM_003595;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A90A;refseq.proteinCoordStr_2=p.A90A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=358;refseq.spliceDist_2=358;refseq.start_1=25267327;refseq.start_2=25267327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/1 chr22 25325548 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.665T>C;refseq.codonCoord=222;refseq.end=25325548;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=735;refseq.name=NM_001887;refseq.name2=CRYBB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F222S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=90;refseq.start=25325548;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr22 25351457 . T C 330.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=4327.47;QD=39.34;RankSumP=1.00000;SB=-1899.98;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.171T>C;refseq.codonCoord=57;refseq.end=25351457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=206;refseq.name=NM_001886;refseq.name2=CRYBA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F57F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=13;refseq.start=25351457;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 26523786 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00267258;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2746A>C;refseq.codonCoord=916;refseq.end=26523786;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3701;refseq.name=NM_002430;refseq.name2=MN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T916P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-1036;refseq.start=26523786;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 27415138 . G A 20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.750000;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1656C>T;refseq.codingCoordStr_2=c.1527C>T;refseq.codingCoordStr_3=c.1440C>T;refseq.codonCoord_1=552;refseq.codonCoord_2=509;refseq.codonCoord_3=480;refseq.end_1=27415138;refseq.end_2=27415138;refseq.end_3=27415138;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1728;refseq.mrnaCoord_2=1599;refseq.mrnaCoord_3=1512;refseq.name2_1=CHEK2;refseq.name2_2=CHEK2;refseq.name2_3=CHEK2;refseq.name_1=NM_001005735;refseq.name_2=NM_007194;refseq.name_3=NM_145862;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P552P;refseq.proteinCoordStr_2=p.P509P;refseq.proteinCoordStr_3=p.P480P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.spliceDist_3=-16;refseq.start_1=27415138;refseq.start_2=27415138;refseq.start_3=27415138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=soap GT 1/0 chr22 27415140 . G A 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.702797;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1654C>T;refseq.codingCoordStr_2=c.1525C>T;refseq.codingCoordStr_3=c.1438C>T;refseq.codonCoord_1=552;refseq.codonCoord_2=509;refseq.codonCoord_3=480;refseq.end_1=27415140;refseq.end_2=27415140;refseq.end_3=27415140;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1726;refseq.mrnaCoord_2=1597;refseq.mrnaCoord_3=1510;refseq.name2_1=CHEK2;refseq.name2_2=CHEK2;refseq.name2_3=CHEK2;refseq.name_1=NM_001005735;refseq.name_2=NM_007194;refseq.name_3=NM_145862;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P552S;refseq.proteinCoordStr_2=p.P509S;refseq.proteinCoordStr_3=p.P480S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.spliceDist_3=-18;refseq.start_1=27415140;refseq.start_2=27415140;refseq.start_3=27415140;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 1/0 chr22 27437953 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.865G>T;refseq.codingCoordStr_2=c.736G>T;refseq.codingCoordStr_3=c.736G>T;refseq.codonCoord_1=289;refseq.codonCoord_2=246;refseq.codonCoord_3=246;refseq.end_1=27437953;refseq.end_2=27437953;refseq.end_3=27437953;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=937;refseq.mrnaCoord_2=808;refseq.mrnaCoord_3=808;refseq.name2_1=CHEK2;refseq.name2_2=CHEK2;refseq.name2_3=CHEK2;refseq.name_1=NM_001005735;refseq.name_2=NM_007194;refseq.name_3=NM_145862;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V289L;refseq.proteinCoordStr_2=p.V246L;refseq.proteinCoordStr_3=p.V246L;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.start_1=27437953;refseq.start_2=27437953;refseq.start_3=27437953;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=TTA;refseq.variantCodon_2=TTA;refseq.variantCodon_3=TTA;set=FilteredInAll GT 1/0 chr22 27713125 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.62T>G;refseq.codonCoord=21;refseq.end=27713125;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=227;refseq.name=NM_032173;refseq.name2=ZNRF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V21G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=62;refseq.start=27713125;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr22 27776611 . A C 26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=365.60;QD=33.24;RankSumP=1.00000;SB=-155.02;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2142A>C;refseq.codonCoord=714;refseq.end=27776611;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2307;refseq.name=NM_032173;refseq.name2=ZNRF3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P714P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-326;refseq.start=27776611;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr22 27786733 . T C 412.23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.71;MQ0=0;OQ=5816.45;QD=38.27;RankSumP=1.00000;SB=-2799.46;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.102A>G;refseq.codonCoord=34;refseq.end=27786733;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=229;refseq.name=NM_015370;refseq.name2=C22orf31;refseq.positionType=CDS;refseq.proteinCoordStr=p.S34S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=99;refseq.start=27786733;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr22 27863499 . G A 149.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=391;Dels=0.00;HRun=0;HaplotypeScore=8.60;MQ=98.56;MQ0=0;OQ=14755.11;QD=37.74;RankSumP=1.00000;SB=-7339.99;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.801G>A;refseq.codingCoordStr_2=c.801G>A;refseq.codonCoord_1=267;refseq.codonCoord_2=267;refseq.end_1=27863499;refseq.end_2=27863499;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=854;refseq.mrnaCoord_2=854;refseq.name2_1=KREMEN1;refseq.name2_2=KREMEN1;refseq.name_1=NM_001039570;refseq.name_2=NM_032045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A267A;refseq.proteinCoordStr_2=p.A267A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-164;refseq.spliceDist_2=-164;refseq.start_1=27863499;refseq.start_2=27863499;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/1 chr22 27863572 . C G 264.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.52;MQ0=0;OQ=6781.47;QD=44.91;RankSumP=1.00000;SB=-1883.16;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.874C>G;refseq.codingCoordStr_2=c.874C>G;refseq.codonCoord_1=292;refseq.codonCoord_2=292;refseq.end_1=27863572;refseq.end_2=27863572;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=927;refseq.mrnaCoord_2=927;refseq.name2_1=KREMEN1;refseq.name2_2=KREMEN1;refseq.name_1=NM_001039570;refseq.name_2=NM_032045;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L292V;refseq.proteinCoordStr_2=p.L292V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-91;refseq.spliceDist_2=-91;refseq.start_1=27863572;refseq.start_2=27863572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr22 27986389 . G T 392.99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.73;MQ0=0;OQ=2905.28;QD=36.32;RankSumP=1.00000;SB=-952.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.909C>A;refseq.codonCoord=303;refseq.end=27986389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1281;refseq.name=NM_012265;refseq.name2=RHBDD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A303A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-75;refseq.start=27986389;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr22 27991524 . A C 94 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=66;Dels=0.00;HRun=5;HaplotypeScore=3.65;MQ=97.27;MQ0=0;OQ=135.76;QD=2.06;RankSumP=4.29563e-05;SB=101.31;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.92T>G;refseq.codonCoord=31;refseq.end=27991524;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=464;refseq.name=NM_012265;refseq.name2=RHBDD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V31G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-57;refseq.start=27991524;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 28034125 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=15.24;MQ=93.02;MQ0=0;OQ=589.45;QD=9.99;RankSumP=0.577084;SB=-91.58;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.30C>T;refseq.codonCoord=10;refseq.end=28034125;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=196;refseq.name=NM_152237;refseq.name2=GAS2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G10G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=49;refseq.start=28034125;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr22 28034423 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=3.02574e-11;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.328T>G;refseq.codonCoord=110;refseq.end=28034423;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=494;refseq.name=NM_152237;refseq.name2=GAS2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C110G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-306;refseq.start=28034423;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr22 28036827 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.849A>C;refseq.codonCoord=283;refseq.end=28036827;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_152237;refseq.name2=GAS2L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P283P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=11;refseq.start=28036827;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 28057866 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=10.26;MQ=98.09;MQ0=0;OQ=675.91;QD=8.78;RankSumP=0.257274;SB=-208.68;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.2349G>A;refseq.codingCoordStr_2=c.2268G>A;refseq.codingCoordStr_3=c.2328G>A;refseq.codonCoord_1=783;refseq.codonCoord_2=756;refseq.codonCoord_3=776;refseq.end_1=28057866;refseq.end_2=28057866;refseq.end_3=28057866;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2536;refseq.mrnaCoord_2=2455;refseq.mrnaCoord_3=2515;refseq.name2_1=AP1B1;refseq.name2_2=AP1B1;refseq.name2_3=AP1B1;refseq.name_1=NM_001127;refseq.name_2=NM_001166019;refseq.name_3=NM_145730;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A783A;refseq.proteinCoordStr_2=p.A756A;refseq.proteinCoordStr_3=p.A776A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=40;refseq.spliceDist_2=40;refseq.spliceDist_3=40;refseq.start_1=28057866;refseq.start_2=28057866;refseq.start_3=28057866;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr22 28057886 . T C 200.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=73;Dels=0.01;HRun=0;HaplotypeScore=10.63;MQ=98.51;MQ0=0;OQ=1466.27;QD=20.09;RankSumP=1.00000;SB=-688.57;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.2329A>G;refseq.codingCoordStr_2=c.2248A>G;refseq.codingCoordStr_3=c.2308A>G;refseq.codonCoord_1=777;refseq.codonCoord_2=750;refseq.codonCoord_3=770;refseq.end_1=28057886;refseq.end_2=28057886;refseq.end_3=28057886;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2516;refseq.mrnaCoord_2=2435;refseq.mrnaCoord_3=2495;refseq.name2_1=AP1B1;refseq.name2_2=AP1B1;refseq.name2_3=AP1B1;refseq.name_1=NM_001127;refseq.name_2=NM_001166019;refseq.name_3=NM_145730;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T777A;refseq.proteinCoordStr_2=p.T750A;refseq.proteinCoordStr_3=p.T770A;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=28057886;refseq.start_2=28057886;refseq.start_3=28057886;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=Intersection GT 1/1 chr22 28084871 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=8.14486e-12;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.369C>G;refseq.codingCoordStr_2=c.369C>G;refseq.codingCoordStr_3=c.369C>G;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.codonCoord_3=123;refseq.end_1=28084871;refseq.end_2=28084871;refseq.end_3=28084871;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=556;refseq.mrnaCoord_2=556;refseq.mrnaCoord_3=556;refseq.name2_1=AP1B1;refseq.name2_2=AP1B1;refseq.name2_3=AP1B1;refseq.name_1=NM_001127;refseq.name_2=NM_001166019;refseq.name_3=NM_145730;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.C123W;refseq.proteinCoordStr_2=p.C123W;refseq.proteinCoordStr_3=p.C123W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.start_1=28084871;refseq.start_2=28084871;refseq.start_3=28084871;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;set=FilteredInAll GT 0/1 chr22 28085888 . T C 266.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=166;Dels=0.00;HRun=1;HaplotypeScore=3.67;MQ=98.58;MQ0=0;OQ=2963.74;QD=17.85;RankSumP=0.196462;SB=-1308.05;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.204A>G;refseq.codingCoordStr_2=c.204A>G;refseq.codingCoordStr_3=c.204A>G;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.end_1=28085888;refseq.end_2=28085888;refseq.end_3=28085888;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=391;refseq.mrnaCoord_2=391;refseq.mrnaCoord_3=391;refseq.name2_1=AP1B1;refseq.name2_2=AP1B1;refseq.name2_3=AP1B1;refseq.name_1=NM_001127;refseq.name_2=NM_001166019;refseq.name_3=NM_145730;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L68L;refseq.proteinCoordStr_2=p.L68L;refseq.proteinCoordStr_3=p.L68L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.spliceDist_1=61;refseq.spliceDist_2=61;refseq.spliceDist_3=61;refseq.start_1=28085888;refseq.start_2=28085888;refseq.start_3=28085888;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/0 chr22 28089017 . G T 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.400000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.116C>A;refseq.codingCoordStr_2=c.116C>A;refseq.codingCoordStr_3=c.116C>A;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.codonCoord_3=39;refseq.end_1=28089017;refseq.end_2=28089017;refseq.end_3=28089017;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=303;refseq.mrnaCoord_2=303;refseq.mrnaCoord_3=303;refseq.name2_1=AP1B1;refseq.name2_2=AP1B1;refseq.name2_3=AP1B1;refseq.name_1=NM_001127;refseq.name_2=NM_001166019;refseq.name_3=NM_145730;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A39E;refseq.proteinCoordStr_2=p.A39E;refseq.proteinCoordStr_3=p.A39E;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=28089017;refseq.start_2=28089017;refseq.start_3=28089017;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;set=FilteredInAll GT 0/1 chr22 28167537 . T C 184.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=204;Dels=0.00;HRun=0;HaplotypeScore=8.16;MQ=78.25;MQ0=8;OQ=6812.31;QD=33.39;RankSumP=1.00000;SB=-1468.33;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.380T>C;refseq.codonCoord_2=127;refseq.end_1=28167537;refseq.end_2=28167537;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=582;refseq.mrnaCoord_2=589;refseq.name2_1=RFPL1S;refseq.name2_2=RFPL1;refseq.name_1=NR_002727;refseq.name_2=NM_021026;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M127T;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=582;refseq.spliceDist_2=7;refseq.spliceInfo_2=splice-acceptor_7;refseq.start_1=28167537;refseq.start_2=28167537;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chr22 28167567 . T A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.709148;SecondBestBaseQ=24;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.410T>A;refseq.codonCoord_2=137;refseq.end_1=28167567;refseq.end_2=28167567;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=552;refseq.mrnaCoord_2=619;refseq.name2_1=RFPL1S;refseq.name2_2=RFPL1;refseq.name_1=NR_002727;refseq.name_2=NM_021026;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.F137Y;refseq.referenceAA_2=Phe;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=552;refseq.spliceDist_2=37;refseq.start_1=28167567;refseq.start_2=28167567;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Tyr;refseq.variantCodon_2=TAC;set=soap GT 1/0 chr22 28167569 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.342424;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.412C>T;refseq.codonCoord_2=138;refseq.end_1=28167569;refseq.end_2=28167569;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=550;refseq.mrnaCoord_2=621;refseq.name2_1=RFPL1S;refseq.name2_2=RFPL1;refseq.name_1=NR_002727;refseq.name_2=NM_021026;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L138F;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=550;refseq.spliceDist_2=39;refseq.start_1=28167569;refseq.start_2=28167569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Phe;refseq.variantCodon_2=TTC;set=soap GT 0/1 chr22 28167572 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.278713;SecondBestBaseQ=18;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.415C>A;refseq.codonCoord_2=139;refseq.end_1=28167572;refseq.end_2=28167572;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=547;refseq.mrnaCoord_2=624;refseq.name2_1=RFPL1S;refseq.name2_2=RFPL1;refseq.name_1=NR_002727;refseq.name_2=NM_021026;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L139I;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=547;refseq.spliceDist_2=42;refseq.start_1=28167572;refseq.start_2=28167572;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATC;set=FilteredInAll GT 1/0 chr22 28215473 . C T 324.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=79.13;MQ0=3;OQ=2986.01;QD=17.46;RankSumP=0.494395;SB=-1254.69;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1844C>T;refseq.codonCoord=615;refseq.end=28215473;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1915;refseq.name=NM_021076;refseq.name2=NEFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.P615L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=636;refseq.start=28215473;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chr22 28215594 . A T 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00158415;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1965A>T;refseq.codonCoord=655;refseq.end=28215594;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2036;refseq.name=NM_021076;refseq.name2=NEFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.P655P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=757;refseq.start=28215594;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 0/1 chr22 28215686 . C A 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.472527;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2057C>A;refseq.codonCoord=686;refseq.end=28215686;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2128;refseq.name=NM_021076;refseq.name2=NEFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A686E;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=849;refseq.start=28215686;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 1/0 chr22 28215861 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=436;Dels=0.00;HRun=1;HaplotypeScore=12.14;MQ=85.46;MQ0=5;OQ=8148.15;QD=18.69;RankSumP=0.242752;SB=-2430.67;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2232T>C;refseq.codonCoord=744;refseq.end=28215861;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2303;refseq.name=NM_021076;refseq.name2=NEFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.A744A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=1024;refseq.start=28215861;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr22 28216413 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.51;MQ=95.29;MQ0=1;OQ=1062.94;QD=12.81;RankSumP=0.453419;SB=-517.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2784A>G;refseq.codonCoord=928;refseq.end=28216413;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2855;refseq.name=NM_021076;refseq.name2=NEFH;refseq.positionType=CDS;refseq.proteinCoordStr=p.V928V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-863;refseq.start=28216413;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chr22 28238072 . C T 256.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=344;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=98.90;MQ0=0;OQ=5404.52;QD=15.71;RankSumP=0.227145;SB=-2063.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.1735G>A;refseq.codingCoordStr_2=c.1735G>A;refseq.codingCoordStr_3=c.1735G>A;refseq.codingCoordStr_4=c.1735G>A;refseq.codonCoord_1=579;refseq.codonCoord_2=579;refseq.codonCoord_3=579;refseq.codonCoord_4=579;refseq.end_1=28238072;refseq.end_2=28238072;refseq.end_3=28238072;refseq.end_4=28238072;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1939;refseq.mrnaCoord_2=2070;refseq.mrnaCoord_3=1954;refseq.mrnaCoord_4=1823;refseq.name2_1=THOC5;refseq.name2_2=THOC5;refseq.name2_3=THOC5;refseq.name2_4=THOC5;refseq.name_1=NM_001002877;refseq.name_2=NM_001002878;refseq.name_3=NM_001002879;refseq.name_4=NM_003678;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V579I;refseq.proteinCoordStr_2=p.V579I;refseq.proteinCoordStr_3=p.V579I;refseq.proteinCoordStr_4=p.V579I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.spliceDist_3=54;refseq.spliceDist_4=54;refseq.start_1=28238072;refseq.start_2=28238072;refseq.start_3=28238072;refseq.start_4=28238072;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr22 28243272 . C T 268.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=98.88;MQ0=0;OQ=6038.28;QD=19.99;RankSumP=0.145976;SB=-1755.69;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.1573G>A;refseq.codingCoordStr_2=c.1573G>A;refseq.codingCoordStr_3=c.1573G>A;refseq.codingCoordStr_4=c.1573G>A;refseq.codonCoord_1=525;refseq.codonCoord_2=525;refseq.codonCoord_3=525;refseq.codonCoord_4=525;refseq.end_1=28243272;refseq.end_2=28243272;refseq.end_3=28243272;refseq.end_4=28243272;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1777;refseq.mrnaCoord_2=1908;refseq.mrnaCoord_3=1792;refseq.mrnaCoord_4=1661;refseq.name2_1=THOC5;refseq.name2_2=THOC5;refseq.name2_3=THOC5;refseq.name2_4=THOC5;refseq.name_1=NM_001002877;refseq.name_2=NM_001002878;refseq.name_3=NM_001002879;refseq.name_4=NM_003678;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V525I;refseq.proteinCoordStr_2=p.V525I;refseq.proteinCoordStr_3=p.V525I;refseq.proteinCoordStr_4=p.V525I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=-21;refseq.spliceDist_2=-21;refseq.spliceDist_3=-21;refseq.spliceDist_4=-21;refseq.start_1=28243272;refseq.start_2=28243272;refseq.start_3=28243272;refseq.start_4=28243272;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr22 28739379 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1352A>G;refseq.codingCoordStr_2=c.1352A>G;refseq.codingCoordStr_3=c.1352A>G;refseq.codonCoord_1=451;refseq.codonCoord_2=451;refseq.codonCoord_3=451;refseq.end_1=28739379;refseq.end_2=28739379;refseq.end_3=28739379;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1680;refseq.mrnaCoord_2=1680;refseq.mrnaCoord_3=1680;refseq.name2_1=MTMR3;refseq.name2_2=MTMR3;refseq.name2_3=MTMR3;refseq.name_1=NM_021090;refseq.name_2=NM_153050;refseq.name_3=NM_153051;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D451G;refseq.proteinCoordStr_2=p.D451G;refseq.proteinCoordStr_3=p.D451G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.spliceDist_3=35;refseq.start_1=28739379;refseq.start_2=28739379;refseq.start_3=28739379;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=FilteredInAll GT 0/1 chr22 29013468 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.266T>G;refseq.codonCoord=89;refseq.end=29013468;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_001037666;refseq.name2=GATSL3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V89G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=82;refseq.start=29013468;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 29018659 . C T 145.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=99.00;MQ0=0;OQ=569.79;QD=14.24;RankSumP=0.141509;SB=-129.16;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1232G>A;refseq.codonCoord=411;refseq.end=29018659;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1256;refseq.name=NM_031937;refseq.name2=TBC1D10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R411H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=179;refseq.start=29018659;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chr22 29019998 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=99.00;MQ0=0;OQ=779.94;QD=21.08;RankSumP=0.531484;SB=-309.30;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.807C>T;refseq.codonCoord=269;refseq.end=29019998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=831;refseq.name=NM_031937;refseq.name2=TBC1D10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.L269L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-89;refseq.start=29019998;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr22 29030607 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=4;HaplotypeScore=9.10;MQ=98.87;MQ0=0;OQ=3198.66;QD=16.32;RankSumP=1.73783e-06;SB=-798.64;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.222A>C;refseq.codonCoord=74;refseq.end=29030607;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=246;refseq.name=NM_031937;refseq.name2=TBC1D10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V74V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=13;refseq.start=29030607;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=filterInsoap-gatk GT 1/0 chr22 29052866 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.595238;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.5C>G;refseq.codonCoord=2;refseq.end=29052866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=29;refseq.name=NM_031937;refseq.name2=TBC1D10A;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=29;refseq.start=29052866;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 29063111 . C A 164.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=2.88;MQ=98.94;MQ0=0;OQ=2696.83;QD=17.63;RankSumP=0.236619;SB=-621.03;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1815G>T;refseq.codingCoordStr_2=c.2010G>T;refseq.codonCoord_1=605;refseq.codonCoord_2=670;refseq.end_1=29063111;refseq.end_2=29063111;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1947;refseq.mrnaCoord_2=2142;refseq.name2_1=SF3A1;refseq.name2_2=SF3A1;refseq.name_1=NM_001005409;refseq.name_2=NM_005877;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V605V;refseq.proteinCoordStr_2=p.V670V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=59;refseq.spliceDist_2=59;refseq.start_1=29063111;refseq.start_2=29063111;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr22 29095502 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=97.67;MQ0=0;OQ=1015.72;QD=9.86;RankSumP=0.0379087;SB=-177.79;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.330G>A;refseq.codonCoord=110;refseq.end=29095502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_001017437;refseq.name2=CCDC157;refseq.positionType=CDS;refseq.proteinCoordStr=p.A110A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=82;refseq.start=29095502;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr22 29098124 . T G 14 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.516234;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1184T>G;refseq.codonCoord=395;refseq.end=29098124;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1844;refseq.name=NM_001017437;refseq.name2=CCDC157;refseq.positionType=CDS;refseq.proteinCoordStr=p.V395G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=61;refseq.start=29098124;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 29100032 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=2.14705e-07;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1624C>G;refseq.codonCoord=542;refseq.end=29100032;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2284;refseq.name=NM_001017437;refseq.name2=CCDC157;refseq.positionType=CDS;refseq.proteinCoordStr=p.L542V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-49;refseq.start=29100032;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr22 29101554 . T G 307.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=3.19;MQ=98.41;MQ0=0;OQ=6374.17;QD=37.06;RankSumP=1.00000;SB=-1625.20;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1759T>G;refseq.codonCoord=587;refseq.end=29101554;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2419;refseq.name=NM_001017437;refseq.name2=CCDC157;refseq.positionType=CDS;refseq.proteinCoordStr=p.S587A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=87;refseq.start=29101554;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr22 29106095 . C T 208.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=98.68;MQ0=0;OQ=1782.87;QD=14.04;RankSumP=0.129049;SB=-784.26;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.964G>A;refseq.codonCoord=322;refseq.end=29106095;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=964;refseq.name=NM_001017981;refseq.name2=RNF215;refseq.positionType=CDS;refseq.proteinCoordStr=p.A322T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-45;refseq.start=29106095;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr22 29112731 . G A 172.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.42;MQ0=0;OQ=1674.28;QD=16.41;RankSumP=0.174206;SB=-830.26;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.303C>T;refseq.codonCoord=101;refseq.end=29112731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_001017981;refseq.name2=RNF215;refseq.positionType=CDS;refseq.proteinCoordStr=p.A101A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=18;refseq.start=29112731;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr22 29152756 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.119T>G;refseq.codingCoordStr_2=c.119T>G;refseq.codonCoord_1=40;refseq.codonCoord_2=40;refseq.end_1=29152756;refseq.end_2=29152756;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=267;refseq.mrnaCoord_2=267;refseq.name2_1=MTP18;refseq.name2_2=MTP18;refseq.name_1=NM_001003704;refseq.name_2=NM_016498;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V40G;refseq.proteinCoordStr_2=p.V40G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=52;refseq.spliceDist_2=52;refseq.start_1=29152756;refseq.start_2=29152756;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chr22 29153196 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=7.65;MQ=97.23;MQ0=0;OQ=582.16;QD=8.82;RankSumP=0.162817;SB=-83.79;SecondBestBaseQ=22;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.234T>C;refseq.codonCoord_2=78;refseq.end_1=29154438;refseq.end_2=29153196;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=382;refseq.name2_1=MTP18;refseq.name2_2=MTP18;refseq.name_1=NM_001003704;refseq.name_2=NM_016498;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T78T;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACT;refseq.spliceDist_2=39;refseq.start_1=29152843;refseq.start_2=29153196;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACC;set=Intersection GT 1/0 chr22 29187373 . A C 149.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=7.22;MQ=98.55;MQ0=0;OQ=1757.39;QD=15.42;RankSumP=0.442134;SB=-703.68;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1005T>G;refseq.codonCoord=335;refseq.end=29187373;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1094;refseq.name=NM_174975;refseq.name2=SEC14L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D335E;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-77;refseq.start=29187373;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr22 29187448 . A G 196.10 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=4.43;MQ=98.71;MQ0=0;OQ=2648.79;QD=13.38;RankSumP=0.424708;SB=-1126.72;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.930T>C;refseq.codonCoord=310;refseq.end=29187448;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_174975;refseq.name2=SEC14L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D310D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=19;refseq.start=29187448;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr22 29194610 . A G 135.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=98.62;MQ0=0;OQ=1397.94;QD=12.94;RankSumP=0.228424;SB=-464.54;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.308T>C;refseq.codonCoord=103;refseq.end=29194610;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=397;refseq.name=NM_174975;refseq.name2=SEC14L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I103T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=74;refseq.start=29194610;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr22 29283295 . C T 407.69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=98.87;MQ0=0;OQ=4004.46;QD=36.74;RankSumP=1.00000;SB=-1065.34;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.85G>A;refseq.codonCoord=29;refseq.end=29283295;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=288;refseq.name=NM_004861;refseq.name2=GAL3ST1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V29M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-47;refseq.start=29283295;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 1/1 chr22 29307353 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=226;Dels=0.00;HRun=0;HaplotypeScore=10.69;MQ=98.76;MQ0=0;OQ=2360.43;QD=10.44;RankSumP=0.322024;SB=-906.09;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.790A>T;refseq.codonCoord=264;refseq.end=29307353;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=864;refseq.name=NM_014303;refseq.name2=PES1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T264S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-33;refseq.start=29307353;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chr22 29341610 . G C 169.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.45;MQ0=0;OQ=7842.86;QD=46.96;RankSumP=1.00000;SB=-2955.45;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.776G>C;refseq.codonCoord=259;refseq.end=29341610;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=934;refseq.name=NM_000355;refseq.name2=TCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R259P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=23;refseq.start=29341610;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chr22 29343419 . C T 113.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=318;Dels=0.00;HRun=1;HaplotypeScore=11.27;MQ=98.93;MQ0=0;OQ=6738.20;QD=21.19;RankSumP=0.449676;SB=-2595.63;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1043C>T;refseq.codonCoord=348;refseq.end=29343419;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1201;refseq.name=NM_000355;refseq.name2=TCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S348F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-64;refseq.start=29343419;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chr22 29348975 . T C 215.06 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=98.91;MQ0=0;OQ=2794.85;QD=15.11;RankSumP=0.133267;SB=-699.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1127T>C;refseq.codonCoord=376;refseq.end=29348975;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1285;refseq.name=NM_000355;refseq.name2=TCN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L376S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=21;refseq.start=29348975;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr22 29362609 . C G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=12;HRun=1;RankSumP=0.0903478;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.172C>G;refseq.codonCoord=58;refseq.end=29362609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_001001479;refseq.name2=SLC35E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L58V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-448;refseq.start=29362609;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chr22 29362881 . G A 164.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=9.06;MQ=96.23;MQ0=0;OQ=1180.73;QD=17.11;RankSumP=0.0687288;SB=-594.40;SecondBestBaseQ=21;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.444G>A;refseq.codonCoord=148;refseq.end=29362881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1089;refseq.name=NM_001001479;refseq.name2=SLC35E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-176;refseq.start=29362881;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/0 chr22 29362920 . A G 65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=94.99;MQ0=0;OQ=1413.50;QD=25.24;RankSumP=1.00000;SB=-516.54;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.483A>G;refseq.codonCoord=161;refseq.end=29362920;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1128;refseq.name=NM_001001479;refseq.name2=SLC35E4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P161P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-137;refseq.start=29362920;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/1 chr22 29596546 . T C 115.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=195;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.97;MQ0=0;OQ=2644.69;QD=13.56;RankSumP=0.131293;SB=-1231.31;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.984T>C;refseq.codonCoord=328;refseq.end=29596546;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1088;refseq.name=NM_030758;refseq.name2=OSBP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A328A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-124;refseq.start=29596546;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr22 29815841 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.628A>C;refseq.codingCoordStr_2=c.628A>C;refseq.codingCoordStr_3=c.628A>C;refseq.codonCoord_1=210;refseq.codonCoord_2=210;refseq.codonCoord_3=210;refseq.end_1=29815841;refseq.end_2=29815841;refseq.end_3=29815841;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=846;refseq.mrnaCoord_2=846;refseq.mrnaCoord_3=846;refseq.name2_1=SMTN;refseq.name2_2=SMTN;refseq.name2_3=SMTN;refseq.name_1=NM_006932;refseq.name_2=NM_134269;refseq.name_3=NM_134270;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T210P;refseq.proteinCoordStr_2=p.T210P;refseq.proteinCoordStr_3=p.T210P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=157;refseq.spliceDist_2=157;refseq.spliceDist_3=157;refseq.start_1=29815841;refseq.start_2=29815841;refseq.start_3=29815841;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chr22 29821295 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=172;Dels=0.00;HRun=1;HaplotypeScore=10.94;MQ=98.92;MQ0=0;OQ=3837.66;QD=22.31;RankSumP=0.422103;SB=-1519.72;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1639G>C;refseq.codingCoordStr_2=c.1639G>C;refseq.codingCoordStr_3=c.1639G>C;refseq.codonCoord_1=547;refseq.codonCoord_2=547;refseq.codonCoord_3=547;refseq.end_1=29821295;refseq.end_2=29821295;refseq.end_3=29821295;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1857;refseq.mrnaCoord_2=1857;refseq.mrnaCoord_3=1857;refseq.name2_1=SMTN;refseq.name2_2=SMTN;refseq.name2_3=SMTN;refseq.name_1=NM_006932;refseq.name_2=NM_134269;refseq.name_3=NM_134270;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A547P;refseq.proteinCoordStr_2=p.A547P;refseq.proteinCoordStr_3=p.A547P;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.start_1=29821295;refseq.start_2=29821295;refseq.start_3=29821295;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;set=Intersection GT 0/1 chr22 29863967 . G A 364.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.31;MQ0=0;OQ=1999.04;QD=37.02;RankSumP=1.00000;SB=-872.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.795C>T;refseq.codonCoord=265;refseq.end=29863967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=924;refseq.name=NM_015715;refseq.name2=PLA2G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y265Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=13;refseq.start=29863967;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chr22 29865995 . C G 296.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=99.00;MQ0=0;OQ=1665.15;QD=18.71;RankSumP=0.000821694;SB=-834.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.346G>C;refseq.codonCoord=116;refseq.end=29865995;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=475;refseq.name=NM_015715;refseq.name2=PLA2G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.E116Q;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-169;refseq.start=29865995;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/0 chr22 29866133 . A C 150.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.84;MQ0=0;OQ=1740.10;QD=34.12;RankSumP=1.00000;SB=-788.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.208T>G;refseq.codonCoord=70;refseq.end=29866133;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_015715;refseq.name2=PLA2G3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S70A;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-307;refseq.start=29866133;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chr22 29993842 . C G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=374;Dels=0.00;HRun=0;HaplotypeScore=8.78;MQ=98.56;MQ0=0;OQ=18247.13;QD=48.79;RankSumP=1.00000;SB=-8413.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1146C>G;refseq.codingCoordStr_2=c.1209C>G;refseq.codingCoordStr_3=c.1146C>G;refseq.codonCoord_1=382;refseq.codonCoord_2=403;refseq.codonCoord_3=382;refseq.end_1=29993842;refseq.end_2=29993842;refseq.end_3=29993842;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1501;refseq.mrnaCoord_2=1354;refseq.mrnaCoord_3=1501;refseq.name2_1=LIMK2;refseq.name2_2=LIMK2;refseq.name2_3=LIMK2;refseq.name_1=NM_001031801;refseq.name_2=NM_005569;refseq.name_3=NM_016733;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L382L;refseq.proteinCoordStr_2=p.L403L;refseq.proteinCoordStr_3=p.L382L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=29993842;refseq.start_2=29993842;refseq.start_3=29993842;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;set=Intersection GT 1/1 chr22 30009110 . G C 321.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=98.41;MQ0=0;OQ=1824.58;QD=37.24;RankSumP=1.00000;SB=-168.77;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*151C>G;refseq.codingCoordStr_2=c.752C>G;refseq.codonCoord_2=251;refseq.end_1=30009110;refseq.end_2=30009110;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=863;refseq.mrnaCoord_2=942;refseq.name2_1=PIK3IP1;refseq.name2_2=PIK3IP1;refseq.name_1=NM_001135911;refseq.name_2=NM_052880;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T251S;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=165;refseq.spliceDist_2=165;refseq.start_1=30009110;refseq.start_2=30009110;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr22 30067436 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=98.53;MQ0=0;OQ=973.05;QD=13.90;RankSumP=0.424745;SB=-112.53;SecondBestBaseQ=29;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_4=c.1569C>T;refseq.codonCoord_4=523;refseq.end_1=30068872;refseq.end_2=30068872;refseq.end_3=30068872;refseq.end_4=30067436;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=2230;refseq.name2_1=PATZ1;refseq.name2_2=PATZ1;refseq.name2_3=PATZ1;refseq.name2_4=PATZ1;refseq.name_1=NM_014323;refseq.name_2=NM_032050;refseq.name_3=NM_032052;refseq.name_4=NM_032051;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.T523T;refseq.referenceAA_4=Thr;refseq.referenceCodon_4=ACC;refseq.spliceDist_4=234;refseq.start_1=30061860;refseq.start_2=30061860;refseq.start_3=30061860;refseq.start_4=30067436;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Thr;refseq.variantCodon_4=ACT;set=Intersection GT 1/0 chr22 30146403 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.574A>C;refseq.codonCoord=192;refseq.end=30146403;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=705;refseq.name=NM_004147;refseq.name2=DRG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T192P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=30146403;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr22 30168085 . G A 206.25 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=386;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=98.79;MQ0=0;OQ=7839.77;QD=20.31;RankSumP=0.0505423;SB=-2237.63;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.2226C>T;refseq.codingCoordStr_2=c.1704C>T;refseq.codingCoordStr_3=c.2226C>T;refseq.codonCoord_1=742;refseq.codonCoord_2=568;refseq.codonCoord_3=742;refseq.end_1=30168085;refseq.end_2=30168085;refseq.end_3=30168085;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2424;refseq.mrnaCoord_2=1926;refseq.mrnaCoord_3=2448;refseq.name2_1=EIF4ENIF1;refseq.name2_2=EIF4ENIF1;refseq.name2_3=EIF4ENIF1;refseq.name_1=NM_001164501;refseq.name_2=NM_001164502;refseq.name_3=NM_019843;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S742S;refseq.proteinCoordStr_2=p.S568S;refseq.proteinCoordStr_3=p.S742S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=30168085;refseq.start_2=30168085;refseq.start_3=30168085;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=Intersection GT 1/0 chr22 30276282 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=98.58;MQ0=0;OQ=2571.22;QD=10.76;RankSumP=0.177338;SB=-1048.48;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.492T>C;refseq.codingCoordStr_2=c.492T>C;refseq.codonCoord_1=164;refseq.codonCoord_2=164;refseq.end_1=30276282;refseq.end_2=30276282;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=885;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_001007467;refseq.name_2=NM_014775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y164Y;refseq.proteinCoordStr_2=p.Y164Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=30276282;refseq.start_2=30276282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr22 30301258 . T C 297.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=355;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=97.22;MQ0=0;OQ=6766.43;QD=19.06;RankSumP=0.361731;SB=-2749.24;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.964T>C;refseq.codingCoordStr_2=c.964T>C;refseq.codonCoord_1=322;refseq.codonCoord_2=322;refseq.end_1=30301258;refseq.end_2=30301258;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1357;refseq.mrnaCoord_2=1357;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_001007467;refseq.name_2=NM_014775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y322H;refseq.proteinCoordStr_2=p.Y322H;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=42;refseq.spliceDist_2=42;refseq.start_1=30301258;refseq.start_2=30301258;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr22 30306299 . T C 150.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=267;Dels=0.00;HRun=1;HaplotypeScore=6.77;MQ=98.78;MQ0=0;OQ=5610.47;QD=21.01;RankSumP=0.310127;SB=-2102.75;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1197T>C;refseq.codonCoord_2=399;refseq.end_1=30309850;refseq.end_2=30306299;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1590;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_014775;refseq.name_2=NM_001007467;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A399A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCT;refseq.spliceDist_2=42;refseq.start_1=30304449;refseq.start_2=30306299;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chr22 30328612 . G A 182.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=98.42;MQ0=0;OQ=4095.09;QD=22.02;RankSumP=0.378695;SB=-1365.36;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1646G>A;refseq.codingCoordStr_2=c.1553G>A;refseq.codonCoord_1=549;refseq.codonCoord_2=518;refseq.end_1=30328612;refseq.end_2=30328612;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2039;refseq.mrnaCoord_2=1946;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_001007467;refseq.name_2=NM_014775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R549Q;refseq.proteinCoordStr_2=p.R518Q;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGA;refseq.referenceCodon_2=CGA;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=30328612;refseq.start_2=30328612;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chr22 30337153 . G A 217.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=394;Dels=0.00;HRun=0;HaplotypeScore=9.57;MQ=98.65;MQ0=0;OQ=6972.86;QD=17.70;RankSumP=0.183207;SB=-2904.10;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2279G>A;refseq.codingCoordStr_2=c.2186G>A;refseq.codonCoord_1=760;refseq.codonCoord_2=729;refseq.end_1=30337153;refseq.end_2=30337153;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2672;refseq.mrnaCoord_2=2579;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_001007467;refseq.name_2=NM_014775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R760H;refseq.proteinCoordStr_2=p.R729H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=30337153;refseq.start_2=30337153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 1/0 chr22 30341225 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.91;MQ=96.75;MQ0=0;OQ=596.48;QD=11.25;RankSumP=0.701548;SB=-279.93;SecondBestBaseQ=24;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3260T>C;refseq.codingCoordStr_2=c.3167T>C;refseq.codonCoord_1=1087;refseq.codonCoord_2=1056;refseq.end_1=30341225;refseq.end_2=30341225;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3653;refseq.mrnaCoord_2=3560;refseq.name2_1=SFI1;refseq.name2_2=SFI1;refseq.name_1=NM_001007467;refseq.name_2=NM_014775;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L1087P;refseq.proteinCoordStr_2=p.L1056P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-41;refseq.spliceDist_2=-41;refseq.start_1=30341225;refseq.start_2=30341225;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;set=Intersection GT 1/0 chr22 30535632 . A C 167.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=98.72;MQ0=0;OQ=2348.02;QD=14.77;RankSumP=0.495559;SB=-845.64;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1323A>C;refseq.codingCoordStr_2=c.1323A>C;refseq.codingCoordStr_3=c.1323A>C;refseq.codonCoord_1=441;refseq.codonCoord_2=441;refseq.codonCoord_3=441;refseq.end_1=30535632;refseq.end_2=30535632;refseq.end_3=30535632;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1465;refseq.mrnaCoord_2=1378;refseq.mrnaCoord_3=1465;refseq.name2_1=DEPDC5;refseq.name2_2=DEPDC5;refseq.name2_3=DEPDC5;refseq.name_1=NM_001007188;refseq.name_2=NM_001136029;refseq.name_3=NM_014662;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T441T;refseq.proteinCoordStr_2=p.T441T;refseq.proteinCoordStr_3=p.T441T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=30535632;refseq.start_2=30535632;refseq.start_3=30535632;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;set=Intersection GT 0/1 chr22 30596591 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3319A>C;refseq.codingCoordStr_2=c.3253A>C;refseq.codonCoord_1=1107;refseq.codonCoord_2=1085;refseq.end_1=30596591;refseq.end_2=30596591;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3374;refseq.mrnaCoord_2=3395;refseq.name2_1=DEPDC5;refseq.name2_2=DEPDC5;refseq.name_1=NM_001136029;refseq.name_2=NM_014662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1107P;refseq.proteinCoordStr_2=p.T1085P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.start_1=30596591;refseq.start_2=30596591;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chr22 30619637 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.4076A>G;refseq.codingCoordStr_2=c.4010A>G;refseq.codonCoord_1=1359;refseq.codonCoord_2=1337;refseq.end_1=30619637;refseq.end_2=30619637;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4131;refseq.mrnaCoord_2=4152;refseq.name2_1=DEPDC5;refseq.name2_2=DEPDC5;refseq.name_1=NM_001136029;refseq.name_2=NM_014662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1359G;refseq.proteinCoordStr_2=p.E1337G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=70;refseq.spliceDist_2=70;refseq.start_1=30619637;refseq.start_2=30619637;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chr22 30769274 . C T 107.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.78;MQ0=0;OQ=1797.84;QD=13.94;RankSumP=0.413149;SB=-583.93;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.6C>T;refseq.codonCoord=2;refseq.end=30769274;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=256;refseq.name=NM_000343;refseq.name2=SLC5A1;refseq.positionType=CDS;refseq.proteinCoordStr=p.D2D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-130;refseq.start=30769274;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr22 30878607 . G A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.363862;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.314C>T;refseq.codonCoord=105;refseq.end=30878607;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=355;refseq.name=NM_001010859;refseq.name2=C22orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.T105I;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=30878607;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap GT 1/0 chr22 30880296 . G T 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.224479;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.242C>A;refseq.codonCoord=81;refseq.end=30880296;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=283;refseq.name=NM_001010859;refseq.name2=C22orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.A81D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=30880296;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr22 30884985 . A G 112.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=203;Dels=0.00;HRun=1;HaplotypeScore=8.18;MQ=98.72;MQ0=0;OQ=2628.27;QD=12.95;RankSumP=0.133038;SB=-912.78;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.218T>C;refseq.codonCoord=73;refseq.end=30884985;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=259;refseq.name=NM_001010859;refseq.name2=C22orf42;refseq.positionType=CDS;refseq.proteinCoordStr=p.L73P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-15;refseq.start=30884985;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr22 30916854 . C T 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=97;Dels=0.00;HRun=1;HaplotypeScore=2.29;MQ=45.44;MQ0=15;OQ=129.41;QD=1.33;RankSumP=0.320526;SB=119.42;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.1042G>A;refseq.codingCoordStr_2=c.772G>A;refseq.codingCoordStr_3=c.772G>A;refseq.codingCoordStr_4=c.859G>A;refseq.codonCoord_1=348;refseq.codonCoord_2=258;refseq.codonCoord_3=258;refseq.codonCoord_4=287;refseq.end_1=30916854;refseq.end_2=30916854;refseq.end_3=30916854;refseq.end_4=30916854;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1978;refseq.mrnaCoord_2=1020;refseq.mrnaCoord_3=1049;refseq.mrnaCoord_4=1064;refseq.name2_1=RFPL2;refseq.name2_2=RFPL2;refseq.name2_3=RFPL2;refseq.name2_4=RFPL2;refseq.name_1=NM_001098527;refseq.name_2=NM_001159545;refseq.name_3=NM_001159546;refseq.name_4=NM_006605;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V348I;refseq.proteinCoordStr_2=p.V258I;refseq.proteinCoordStr_3=p.V258I;refseq.proteinCoordStr_4=p.V287I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=-433;refseq.spliceDist_2=-433;refseq.spliceDist_3=-433;refseq.spliceDist_4=-433;refseq.start_1=30916854;refseq.start_2=30916854;refseq.start_3=30916854;refseq.start_4=30916854;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr22 30916926 . T C 5 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=211;Dels=0.00;HRun=1;HaplotypeScore=7.33;MQ=25.06;MQ0=130;OQ=216.38;QD=1.03;RankSumP=0.670300;SB=-122.45;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.970A>G;refseq.codingCoordStr_2=c.700A>G;refseq.codingCoordStr_3=c.700A>G;refseq.codingCoordStr_4=c.787A>G;refseq.codonCoord_1=324;refseq.codonCoord_2=234;refseq.codonCoord_3=234;refseq.codonCoord_4=263;refseq.end_1=30916926;refseq.end_2=30916926;refseq.end_3=30916926;refseq.end_4=30916926;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1906;refseq.mrnaCoord_2=948;refseq.mrnaCoord_3=977;refseq.mrnaCoord_4=992;refseq.name2_1=RFPL2;refseq.name2_2=RFPL2;refseq.name2_3=RFPL2;refseq.name2_4=RFPL2;refseq.name_1=NM_001098527;refseq.name_2=NM_001159545;refseq.name_3=NM_001159546;refseq.name_4=NM_006605;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S324G;refseq.proteinCoordStr_2=p.S234G;refseq.proteinCoordStr_3=p.S234G;refseq.proteinCoordStr_4=p.S263G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=414;refseq.spliceDist_2=414;refseq.spliceDist_3=414;refseq.spliceDist_4=414;refseq.start_1=30916926;refseq.start_2=30916926;refseq.start_3=30916926;refseq.start_4=30916926;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=filterInsoap-gatk GT 1/0 chr22 30917023 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=287;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=42.08;MQ0=99;OQ=344.69;QD=1.20;RankSumP=0.266204;SB=-179.05;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.873G>C;refseq.codingCoordStr_2=c.603G>C;refseq.codingCoordStr_3=c.603G>C;refseq.codingCoordStr_4=c.690G>C;refseq.codonCoord_1=291;refseq.codonCoord_2=201;refseq.codonCoord_3=201;refseq.codonCoord_4=230;refseq.end_1=30917023;refseq.end_2=30917023;refseq.end_3=30917023;refseq.end_4=30917023;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1809;refseq.mrnaCoord_2=851;refseq.mrnaCoord_3=880;refseq.mrnaCoord_4=895;refseq.name2_1=RFPL2;refseq.name2_2=RFPL2;refseq.name2_3=RFPL2;refseq.name2_4=RFPL2;refseq.name_1=NM_001098527;refseq.name_2=NM_001159545;refseq.name_3=NM_001159546;refseq.name_4=NM_006605;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T291T;refseq.proteinCoordStr_2=p.T201T;refseq.proteinCoordStr_3=p.T201T;refseq.proteinCoordStr_4=p.T230T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=317;refseq.spliceDist_2=317;refseq.spliceDist_3=317;refseq.spliceDist_4=317;refseq.start_1=30917023;refseq.start_2=30917023;refseq.start_3=30917023;refseq.start_4=30917023;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=soap-filterIngatk GT 1/0 chr22 30917027 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=42.60;MQ0=87;OQ=399.79;QD=1.41;RankSumP=0.137702;SB=-208.11;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.869C>G;refseq.codingCoordStr_2=c.599C>G;refseq.codingCoordStr_3=c.599C>G;refseq.codingCoordStr_4=c.686C>G;refseq.codonCoord_1=290;refseq.codonCoord_2=200;refseq.codonCoord_3=200;refseq.codonCoord_4=229;refseq.end_1=30917027;refseq.end_2=30917027;refseq.end_3=30917027;refseq.end_4=30917027;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1805;refseq.mrnaCoord_2=847;refseq.mrnaCoord_3=876;refseq.mrnaCoord_4=891;refseq.name2_1=RFPL2;refseq.name2_2=RFPL2;refseq.name2_3=RFPL2;refseq.name2_4=RFPL2;refseq.name_1=NM_001098527;refseq.name_2=NM_001159545;refseq.name_3=NM_001159546;refseq.name_4=NM_006605;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T290S;refseq.proteinCoordStr_2=p.T200S;refseq.proteinCoordStr_3=p.T200S;refseq.proteinCoordStr_4=p.T229S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.referenceCodon_4=ACC;refseq.spliceDist_1=313;refseq.spliceDist_2=313;refseq.spliceDist_3=313;refseq.spliceDist_4=313;refseq.start_1=30917027;refseq.start_2=30917027;refseq.start_3=30917027;refseq.start_4=30917027;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;refseq.variantCodon_3=AGC;refseq.variantCodon_4=AGC;set=soap-filterIngatk GT 0/1 chr22 30919034 . T C 203.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=381;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=84.50;MQ0=7;OQ=7991.00;QD=20.97;RankSumP=0.148613;SB=-3385.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.411A>G;refseq.codingCoordStr_2=c.141A>G;refseq.codingCoordStr_3=c.141A>G;refseq.codingCoordStr_4=c.228A>G;refseq.codonCoord_1=137;refseq.codonCoord_2=47;refseq.codonCoord_3=47;refseq.codonCoord_4=76;refseq.end_1=30919034;refseq.end_2=30919034;refseq.end_3=30919034;refseq.end_4=30919034;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1347;refseq.mrnaCoord_2=389;refseq.mrnaCoord_3=418;refseq.mrnaCoord_4=433;refseq.name2_1=RFPL2;refseq.name2_2=RFPL2;refseq.name2_3=RFPL2;refseq.name2_4=RFPL2;refseq.name_1=NM_001098527;refseq.name_2=NM_001159545;refseq.name_3=NM_001159546;refseq.name_4=NM_006605;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L137L;refseq.proteinCoordStr_2=p.L47L;refseq.proteinCoordStr_3=p.L47L;refseq.proteinCoordStr_4=p.L76L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=CTA;refseq.referenceCodon_2=CTA;refseq.referenceCodon_3=CTA;refseq.referenceCodon_4=CTA;refseq.spliceDist_1=146;refseq.spliceDist_2=146;refseq.spliceDist_3=146;refseq.spliceDist_4=-146;refseq.start_1=30919034;refseq.start_2=30919034;refseq.start_3=30919034;refseq.start_4=30919034;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;refseq.variantCodon_3=CTG;refseq.variantCodon_4=CTG;set=Intersection GT 1/0 chr22 30955210 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=640;Dels=0.00;HRun=0;HaplotypeScore=29.31;MQ=98.70;MQ0=0;OQ=13898.89;QD=21.72;RankSumP=0.0400611;SB=-5860.38;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1251G>A;refseq.codonCoord=417;refseq.end=30955210;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1253;refseq.name=NM_014227;refseq.name2=SLC5A4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A417A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-30;refseq.start=30955210;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 31084357 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.299T>G;refseq.codingCoordStr_2=c.212T>G;refseq.codonCoord_1=100;refseq.codonCoord_2=71;refseq.end_1=31084357;refseq.end_2=31084357;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=504;refseq.mrnaCoord_2=230;refseq.name2_1=RFPL3;refseq.name2_2=RFPL3;refseq.name_1=NM_001098535;refseq.name_2=NM_006604;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V100G;refseq.proteinCoordStr_2=p.V71G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=31084357;refseq.start_2=31084357;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr22 31086460 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=413;Dels=0.00;HRun=0;HaplotypeScore=7.28;MQ=46.77;MQ0=108;OQ=7656.11;QD=18.54;RankSumP=0.484163;SB=-2852.79;SecondBestBaseQ=30;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_3=c.595G>C;refseq.codingCoordStr_4=c.508G>C;refseq.codonCoord_3=199;refseq.codonCoord_4=170;refseq.end_1=31086460;refseq.end_2=31086460;refseq.end_3=31086460;refseq.end_4=31086460;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=550;refseq.mrnaCoord_2=728;refseq.mrnaCoord_3=800;refseq.mrnaCoord_4=526;refseq.name2_1=RFPL3S;refseq.name2_2=RFPL3S;refseq.name2_3=RFPL3;refseq.name2_4=RFPL3;refseq.name_1=NR_001450;refseq.name_2=NR_002596;refseq.name_3=NM_001098535;refseq.name_4=NM_006604;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.E199Q;refseq.proteinCoordStr_4=p.E170Q;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=367;refseq.spliceDist_2=367;refseq.spliceDist_3=222;refseq.spliceDist_4=222;refseq.start_1=31086460;refseq.start_2=31086460;refseq.start_3=31086460;refseq.start_4=31086460;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_3=CAA;refseq.variantCodon_4=CAA;set=Intersection GT 0/1 chr22 31086652 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=280;Dels=0.00;HRun=1;HaplotypeScore=13.81;MQ=36.47;MQ0=162;OQ=266.09;QD=0.95;RankSumP=0.108149;SB=-139.83;SecondBestBaseQ=34;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_3=c.787A>G;refseq.codingCoordStr_4=c.700A>G;refseq.codonCoord_3=263;refseq.codonCoord_4=234;refseq.end_1=31086652;refseq.end_2=31086652;refseq.end_3=31086652;refseq.end_4=31086652;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=536;refseq.mrnaCoord_3=992;refseq.mrnaCoord_4=718;refseq.name2_1=RFPL3S;refseq.name2_2=RFPL3S;refseq.name2_3=RFPL3;refseq.name2_4=RFPL3;refseq.name_1=NR_001450;refseq.name_2=NR_002596;refseq.name_3=NM_001098535;refseq.name_4=NM_006604;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.S263G;refseq.proteinCoordStr_4=p.S234G;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_3=AGT;refseq.referenceCodon_4=AGT;refseq.spliceDist_1=175;refseq.spliceDist_2=175;refseq.spliceDist_3=414;refseq.spliceDist_4=414;refseq.start_1=31086652;refseq.start_2=31086652;refseq.start_3=31086652;refseq.start_4=31086652;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=Intersection GT 0/1 chr22 31086684 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=7.72;MQ=55.15;MQ0=46;OQ=338.78;QD=1.61;RankSumP=0.431513;SB=-53.98;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_3=c.819C>A;refseq.codingCoordStr_4=c.732C>A;refseq.codonCoord_3=273;refseq.codonCoord_4=244;refseq.end_1=31086684;refseq.end_2=31086684;refseq.end_3=31086684;refseq.end_4=31086684;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=326;refseq.mrnaCoord_2=504;refseq.mrnaCoord_3=1024;refseq.mrnaCoord_4=750;refseq.name2_1=RFPL3S;refseq.name2_2=RFPL3S;refseq.name2_3=RFPL3;refseq.name2_4=RFPL3;refseq.name_1=NR_001450;refseq.name_2=NR_002596;refseq.name_3=NM_001098535;refseq.name_4=NM_006604;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V273V;refseq.proteinCoordStr_4=p.V244V;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=143;refseq.spliceDist_2=143;refseq.spliceDist_3=446;refseq.spliceDist_4=446;refseq.start_1=31086684;refseq.start_2=31086684;refseq.start_3=31086684;refseq.start_4=31086684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_3=GTA;refseq.variantCodon_4=GTA;set=Intersection GT 1/0 chr22 31086703 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=193;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=59.25;MQ0=17;OQ=834.55;QD=4.32;RankSumP=0.378209;SB=-234.41;SecondBestBaseQ=33;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_3=c.838C>T;refseq.codingCoordStr_4=c.751C>T;refseq.codonCoord_3=280;refseq.codonCoord_4=251;refseq.end_1=31086703;refseq.end_2=31086703;refseq.end_3=31086703;refseq.end_4=31086703;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=307;refseq.mrnaCoord_2=485;refseq.mrnaCoord_3=1043;refseq.mrnaCoord_4=769;refseq.name2_1=RFPL3S;refseq.name2_2=RFPL3S;refseq.name2_3=RFPL3;refseq.name2_4=RFPL3;refseq.name_1=NR_001450;refseq.name_2=NR_002596;refseq.name_3=NM_001098535;refseq.name_4=NM_006604;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.R280C;refseq.proteinCoordStr_4=p.R251C;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=124;refseq.spliceDist_2=124;refseq.spliceDist_3=-446;refseq.spliceDist_4=-446;refseq.start_1=31086703;refseq.start_2=31086703;refseq.start_3=31086703;refseq.start_4=31086703;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;set=soap-filterIngatk GT 0/1 chr22 31086744 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=190;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=62.37;MQ0=30;OQ=5198.71;QD=27.36;RankSumP=0.398051;SB=-2275.12;SecondBestBaseQ=33;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_3=c.879A>G;refseq.codingCoordStr_4=c.792A>G;refseq.codonCoord_3=293;refseq.codonCoord_4=264;refseq.end_1=31086744;refseq.end_2=31086744;refseq.end_3=31086744;refseq.end_4=31086744;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=444;refseq.mrnaCoord_3=1084;refseq.mrnaCoord_4=810;refseq.name2_1=RFPL3S;refseq.name2_2=RFPL3S;refseq.name2_3=RFPL3;refseq.name2_4=RFPL3;refseq.name_1=NR_001450;refseq.name_2=NR_002596;refseq.name_3=NM_001098535;refseq.name_4=NM_006604;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.Q293Q;refseq.proteinCoordStr_4=p.Q264Q;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_3=CAA;refseq.referenceCodon_4=CAA;refseq.spliceDist_1=83;refseq.spliceDist_2=83;refseq.spliceDist_3=-405;refseq.spliceDist_4=-405;refseq.start_1=31086744;refseq.start_2=31086744;refseq.start_3=31086744;refseq.start_4=31086744;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 0/1 chr22 31114047 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1450A>C;refseq.codonCoord=484;refseq.end=31114047;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_014306;refseq.name2=C22orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.T484P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=40;refseq.start=31114047;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 31125641 . C T 173.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=99.00;MQ0=0;OQ=1886.66;QD=17.31;RankSumP=0.127900;SB=-768.95;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.603G>A;refseq.codonCoord=201;refseq.end=31125641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=734;refseq.name=NM_014306;refseq.name2=C22orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q201Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-52;refseq.start=31125641;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chr22 31134176 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=158;Dels=0.00;HRun=0;HaplotypeScore=9.61;MQ=98.63;MQ0=0;OQ=1508.17;QD=9.55;RankSumP=0.0378400;SB=-283.98;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.226C>A;refseq.codonCoord=76;refseq.end=31134176;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=357;refseq.name=NM_014306;refseq.name2=C22orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.P76T;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-15;refseq.start=31134176;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 0/1 chr22 31138078 . G A 186.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.13;MQ0=0;OQ=4386.72;QD=18.99;RankSumP=0.195014;SB=-1674.06;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.66C>T;refseq.codonCoord=22;refseq.end=31138078;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=197;refseq.name=NM_014306;refseq.name2=C22orf28;refseq.positionType=CDS;refseq.proteinCoordStr=p.I22I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-28;refseq.start=31138078;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr22 31140378 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=466;Dels=0.00;HRun=0;HaplotypeScore=23.58;MQ=98.81;MQ0=0;OQ=8447.39;QD=18.13;RankSumP=0.152901;SB=-3239.35;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1436A>C;refseq.codonCoord=479;refseq.end=31140378;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1436;refseq.name=NM_174932;refseq.name2=BPIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E479A;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=35;refseq.start=31140378;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chr22 31141952 . A G 74 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=117;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=4926.17;QD=42.10;RankSumP=1.00000;SB=-2294.05;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1351T>C;refseq.codonCoord=451;refseq.end=31141952;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1351;refseq.name=NM_174932;refseq.name2=BPIL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S451P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=27;refseq.start=31141952;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/1 chr22 31259871 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=4.31621e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1000T>G;refseq.codingCoordStr_2=c.1003T>G;refseq.codingCoordStr_3=c.1003T>G;refseq.codonCoord_1=334;refseq.codonCoord_2=335;refseq.codonCoord_3=335;refseq.end_1=31259871;refseq.end_2=31259871;refseq.end_3=31259871;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1262;refseq.mrnaCoord_2=1162;refseq.mrnaCoord_3=1162;refseq.name2_1=SYN3;refseq.name2_2=SYN3;refseq.name2_3=SYN3;refseq.name_1=NM_001135774;refseq.name_2=NM_003490;refseq.name_3=NM_133633;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.W334G;refseq.proteinCoordStr_2=p.W335G;refseq.proteinCoordStr_3=p.W335G;refseq.referenceAA_1=Trp;refseq.referenceAA_2=Trp;refseq.referenceAA_3=Trp;refseq.referenceCodon_1=TGG;refseq.referenceCodon_2=TGG;refseq.referenceCodon_3=TGG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.spliceDist_3=11;refseq.start_1=31259871;refseq.start_2=31259871;refseq.start_3=31259871;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chr22 31583280 . T C 84.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=8.37;MQ=98.79;MQ0=0;OQ=23768.54;QD=39.42;RankSumP=1.00000;SB=-10508.11;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_4=c.249T>C;refseq.codonCoord_4=83;refseq.end_1=31590891;refseq.end_2=31590891;refseq.end_3=31590891;refseq.end_4=31583280;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1435;refseq.name2_1=SYN3;refseq.name2_2=SYN3;refseq.name2_3=SYN3;refseq.name2_4=TIMP3;refseq.name_1=NM_001135774;refseq.name_2=NM_003490;refseq.name_3=NM_133633;refseq.name_4=NM_000362;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.H83H;refseq.referenceAA_4=His;refseq.referenceCodon_4=CAT;refseq.spliceDist_4=45;refseq.start_1=31322733;refseq.start_2=31322733;refseq.start_3=31322733;refseq.start_4=31583280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=His;refseq.variantCodon_4=CAC;set=Intersection GT 1/1 chr22 32003125 . C T 302.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=312;Dels=0.00;HRun=0;HaplotypeScore=11.12;MQ=98.64;MQ0=0;OQ=5080.70;QD=16.28;RankSumP=0.364647;SB=-1602.54;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1994G>A;refseq.codingCoordStr_2=c.1994G>A;refseq.codonCoord_1=665;refseq.codonCoord_2=665;refseq.end_1=32003125;refseq.end_2=32003125;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2573;refseq.mrnaCoord_2=2510;refseq.name2_1=LARGE;refseq.name2_2=LARGE;refseq.name_1=NM_004737;refseq.name_2=NM_133642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R665H;refseq.proteinCoordStr_2=p.R665H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=32003125;refseq.start_2=32003125;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAT;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chr22 32352284 . G A 318.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=98.56;MQ0=0;OQ=6697.13;QD=18.10;RankSumP=0.00254515;SB=-2287.37;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.435C>T;refseq.codingCoordStr_2=c.435C>T;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=32352284;refseq.end_2=32352284;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1014;refseq.mrnaCoord_2=951;refseq.name2_1=LARGE;refseq.name2_2=LARGE;refseq.name_1=NM_004737;refseq.name_2=NM_133642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A145A;refseq.proteinCoordStr_2=p.A145A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.start_1=32352284;refseq.start_2=32352284;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=filterInsoap-gatk GT 1/0 chr22 33793162 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.52;MQ=98.54;MQ0=0;OQ=563.08;QD=13.73;RankSumP=0.251996;SB=-243.67;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.82A>G;refseq.codonCoord=28;refseq.end=33793162;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1033;refseq.name=NM_001008494;refseq.name2=ISX;refseq.positionType=CDS;refseq.proteinCoordStr=p.S28G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-148;refseq.start=33793162;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 0/1 chr22 33793179 . T C 160.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.50;MQ0=0;OQ=693.02;QD=14.44;RankSumP=0.426582;SB=-353.66;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=33793179;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1050;refseq.name=NM_001008494;refseq.name2=ISX;refseq.positionType=CDS;refseq.proteinCoordStr=p.I33I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-131;refseq.start=33793179;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr22 33990875 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=17.32;MQ=97.45;MQ0=0;OQ=637.27;QD=14.16;RankSumP=0.634835;SB=-199.19;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.494G>T;refseq.codonCoord_2=165;refseq.end_1=33990875;refseq.end_2=33990875;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=783;refseq.mrnaCoord_2=668;refseq.name2_1=HMGXB4;refseq.name2_2=HMGXB4;refseq.name_1=NR_027780;refseq.name_2=NM_001003681;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G165V;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=235;refseq.spliceDist_2=235;refseq.start_1=33990875;refseq.start_2=33990875;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr22 33991503 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1122T>C;refseq.codonCoord_2=374;refseq.end_1=33991503;refseq.end_2=33991503;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1411;refseq.mrnaCoord_2=1296;refseq.name2_1=HMGXB4;refseq.name2_2=HMGXB4;refseq.name_1=NR_027780;refseq.name_2=NM_001003681;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P374P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=-94;refseq.spliceDist_2=-94;refseq.start_1=33991503;refseq.start_2=33991503;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 34013388 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.1411G>A;refseq.codonCoord_2=471;refseq.end_1=34013388;refseq.end_2=34013388;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1700;refseq.mrnaCoord_2=1585;refseq.name2_1=HMGXB4;refseq.name2_2=HMGXB4;refseq.name_1=NR_027780;refseq.name_2=NM_001003681;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.E471K;refseq.referenceAA_2=Glu;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=49;refseq.spliceDist_2=49;refseq.start_1=34013388;refseq.start_2=34013388;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Lys;refseq.variantCodon_2=AAA;set=FilteredInAll GT 1/0 chr22 34071766 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_3=c.1174T>G;refseq.codingCoordStr_4=c.1138T>G;refseq.codingCoordStr_5=c.1273T>G;refseq.codingCoordStr_6=c.1273T>G;refseq.codonCoord_3=392;refseq.codonCoord_4=380;refseq.codonCoord_5=425;refseq.codonCoord_6=425;refseq.end_1=34071766;refseq.end_2=34071766;refseq.end_3=34071766;refseq.end_4=34071766;refseq.end_5=34071766;refseq.end_6=34071766;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1427;refseq.mrnaCoord_2=1348;refseq.mrnaCoord_3=1325;refseq.mrnaCoord_4=1263;refseq.mrnaCoord_5=1398;refseq.mrnaCoord_6=1398;refseq.name2_1=TOM1;refseq.name2_2=TOM1;refseq.name2_3=TOM1;refseq.name2_4=TOM1;refseq.name2_5=TOM1;refseq.name2_6=TOM1;refseq.name_1=NR_024194;refseq.name_2=NR_024195;refseq.name_3=NM_001135729;refseq.name_4=NM_001135730;refseq.name_5=NM_001135732;refseq.name_6=NM_005488;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.S392A;refseq.proteinCoordStr_4=p.S380A;refseq.proteinCoordStr_5=p.S425A;refseq.proteinCoordStr_6=p.S425A;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.spliceDist_3=-12;refseq.spliceDist_4=-12;refseq.spliceDist_5=-12;refseq.spliceDist_6=-12;refseq.start_1=34071766;refseq.start_2=34071766;refseq.start_3=34071766;refseq.start_4=34071766;refseq.start_5=34071766;refseq.start_6=34071766;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantAA_5=Ala;refseq.variantAA_6=Ala;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;refseq.variantCodon_5=GCC;refseq.variantCodon_6=GCC;set=FilteredInAll GT 1/0 chr22 34072925 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=141;Dels=0.00;HRun=3;HaplotypeScore=5.46;MQ=98.96;MQ0=0;OQ=2324.54;QD=16.49;RankSumP=0.00429884;SB=-1137.84;SecondBestBaseQ=28;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_3=c.1188T>G;refseq.codingCoordStr_4=c.1152T>G;refseq.codingCoordStr_5=c.1287T>G;refseq.codingCoordStr_6=c.1287T>G;refseq.codonCoord_3=396;refseq.codonCoord_4=384;refseq.codonCoord_5=429;refseq.codonCoord_6=429;refseq.end_1=34072925;refseq.end_2=34072925;refseq.end_3=34072925;refseq.end_4=34072925;refseq.end_5=34072925;refseq.end_6=34072925;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1441;refseq.mrnaCoord_2=1362;refseq.mrnaCoord_3=1339;refseq.mrnaCoord_4=1277;refseq.mrnaCoord_5=1412;refseq.mrnaCoord_6=1412;refseq.name2_1=TOM1;refseq.name2_2=TOM1;refseq.name2_3=TOM1;refseq.name2_4=TOM1;refseq.name2_5=TOM1;refseq.name2_6=TOM1;refseq.name_1=NR_024194;refseq.name_2=NR_024195;refseq.name_3=NM_001135729;refseq.name_4=NM_001135730;refseq.name_5=NM_001135732;refseq.name_6=NM_005488;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.G396G;refseq.proteinCoordStr_4=p.G384G;refseq.proteinCoordStr_5=p.G429G;refseq.proteinCoordStr_6=p.G429G;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_3=GGT;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceDist_3=3;refseq.spliceDist_4=3;refseq.spliceDist_5=3;refseq.spliceDist_6=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.spliceInfo_3=splice-acceptor_3;refseq.spliceInfo_4=splice-acceptor_3;refseq.spliceInfo_5=splice-acceptor_3;refseq.spliceInfo_6=splice-acceptor_3;refseq.start_1=34072925;refseq.start_2=34072925;refseq.start_3=34072925;refseq.start_4=34072925;refseq.start_5=34072925;refseq.start_6=34072925;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGG;set=filterInsoap-gatk GT 1/0 chr22 34073124 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=82;Dels=0.00;HRun=5;HaplotypeScore=4.91;MQ=99.00;MQ0=0;OQ=1338.06;QD=16.32;RankSumP=0.0798741;SB=-635.45;SecondBestBaseQ=31;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_3=c.1305G>C;refseq.codingCoordStr_4=c.1266G>C;refseq.codingCoordStr_5=c.1404G>C;refseq.codingCoordStr_6=c.1401G>C;refseq.codonCoord_3=435;refseq.codonCoord_4=422;refseq.codonCoord_5=468;refseq.codonCoord_6=467;refseq.end_1=34073124;refseq.end_2=34073124;refseq.end_3=34073124;refseq.end_4=34073124;refseq.end_5=34073124;refseq.end_6=34073124;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1555;refseq.mrnaCoord_2=1476;refseq.mrnaCoord_3=1456;refseq.mrnaCoord_4=1391;refseq.mrnaCoord_5=1529;refseq.mrnaCoord_6=1526;refseq.name2_1=TOM1;refseq.name2_2=TOM1;refseq.name2_3=TOM1;refseq.name2_4=TOM1;refseq.name2_5=TOM1;refseq.name2_6=TOM1;refseq.name_1=NR_024194;refseq.name_2=NR_024195;refseq.name_3=NM_001135729;refseq.name_4=NM_001135730;refseq.name_5=NM_001135732;refseq.name_6=NM_005488;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.G435G;refseq.proteinCoordStr_4=p.G422G;refseq.proteinCoordStr_5=p.G468G;refseq.proteinCoordStr_6=p.G467G;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_3=GGG;refseq.referenceCodon_4=GGG;refseq.referenceCodon_5=GGG;refseq.referenceCodon_6=GGG;refseq.spliceDist_1=77;refseq.spliceDist_2=77;refseq.spliceDist_3=77;refseq.spliceDist_4=77;refseq.spliceDist_5=77;refseq.spliceDist_6=77;refseq.start_1=34073124;refseq.start_2=34073124;refseq.start_3=34073124;refseq.start_4=34073124;refseq.start_5=34073124;refseq.start_6=34073124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;refseq.variantCodon_5=GGC;refseq.variantCodon_6=GGC;set=soap-filterIngatk GT 0/1 chr22 34277531 . C A 294.71 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=98.49;MQ0=0;OQ=6741.21;QD=38.74;RankSumP=1.00000;SB=-2933.77;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.307C>A;refseq.codonCoord=103;refseq.end=34277531;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=512;refseq.name=NM_014310;refseq.name2=RASD2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R103R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=36;refseq.start=34277531;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chr22 34336991 . G A 360.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=7.56;MQ=98.35;MQ0=0;OQ=5344.65;QD=18.82;RankSumP=0.362795;SB=-1526.31;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.204C>T;refseq.codingCoordStr_2=c.204C>T;refseq.codingCoordStr_3=c.204C>T;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.codonCoord_3=68;refseq.end_1=34336991;refseq.end_2=34336991;refseq.end_3=34336991;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=376;refseq.mrnaCoord_3=359;refseq.name2_1=MB;refseq.name2_2=MB;refseq.name2_3=MB;refseq.name_1=NM_005368;refseq.name_2=NM_203377;refseq.name_3=NM_203378;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T68T;refseq.proteinCoordStr_2=p.T68T;refseq.proteinCoordStr_3=p.T68T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.spliceDist_3=109;refseq.start_1=34336991;refseq.start_2=34336991;refseq.start_3=34336991;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;set=Intersection GT 1/0 chr22 34337021 . C T 358.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=98.83;MQ0=0;OQ=6415.98;QD=19.50;RankSumP=0.453547;SB=-2213.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.174G>A;refseq.codingCoordStr_2=c.174G>A;refseq.codingCoordStr_3=c.174G>A;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.codonCoord_3=58;refseq.end_1=34337021;refseq.end_2=34337021;refseq.end_3=34337021;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=254;refseq.mrnaCoord_2=346;refseq.mrnaCoord_3=329;refseq.name2_1=MB;refseq.name2_2=MB;refseq.name2_3=MB;refseq.name_1=NM_005368;refseq.name_2=NM_203377;refseq.name_3=NM_203378;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A58A;refseq.proteinCoordStr_2=p.A58A;refseq.proteinCoordStr_3=p.A58A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.spliceDist_3=79;refseq.start_1=34337021;refseq.start_2=34337021;refseq.start_3=34337021;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 0/1 chr22 34452670 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1055.81;QD=13.20;RankSumP=0.436619;SB=-379.40;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.609C>A;refseq.codonCoord=203;refseq.end=34452670;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=609;refseq.name=NM_030642;refseq.name2=APOL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S203R;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=467;refseq.start=34452670;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr22 34452876 . C T 172.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=99.00;MQ0=0;OQ=1160.66;QD=14.33;RankSumP=0.138045;SB=-449.94;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.815C>T;refseq.codonCoord=272;refseq.end=34452876;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_030642;refseq.name2=APOL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T272M;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-312;refseq.start=34452876;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr22 34454806 . C G 136.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=16.58;MQ=98.65;MQ0=0;OQ=2561.50;QD=14.47;RankSumP=0.0623611;SB=-1043.76;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1217C>G;refseq.codonCoord=406;refseq.end=34454806;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1217;refseq.name=NM_030642;refseq.name2=APOL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S406C;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=91;refseq.start=34454806;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 34454827 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1238A>C;refseq.codonCoord=413;refseq.end=34454827;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1238;refseq.name=NM_030642;refseq.name2=APOL5;refseq.positionType=CDS;refseq.proteinCoordStr=p.H413P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-71;refseq.start=34454827;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 34471977 . A C 27 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=9.83399e-07;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_1=c.1037T>G;refseq.codingCoordStr_2=c.1025T>G;refseq.codingCoordStr_3=c.997T>G;refseq.codingCoordStr_4=c.1250T>G;refseq.codingCoordStr_5=c.1247T>G;refseq.codingCoordStr_6=c.988T>G;refseq.codonCoord_1=346;refseq.codonCoord_2=342;refseq.codonCoord_3=333;refseq.codonCoord_4=417;refseq.codonCoord_5=416;refseq.codonCoord_6=330;refseq.end_1=34471977;refseq.end_2=34471977;refseq.end_3=34471977;refseq.end_4=34471977;refseq.end_5=34471977;refseq.end_6=34471977;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=0;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1402;refseq.mrnaCoord_2=1390;refseq.mrnaCoord_3=1362;refseq.mrnaCoord_4=1362;refseq.mrnaCoord_5=1359;refseq.mrnaCoord_6=1353;refseq.name2_1=RBM9;refseq.name2_2=RBM9;refseq.name2_3=RBM9;refseq.name2_4=RBM9;refseq.name2_5=RBM9;refseq.name2_6=RBM9;refseq.name_1=NM_001031695;refseq.name_2=NM_001082576;refseq.name_3=NM_001082577;refseq.name_4=NM_001082578;refseq.name_5=NM_001082579;refseq.name_6=NM_014309;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.V346G;refseq.proteinCoordStr_2=p.V342G;refseq.proteinCoordStr_3=p.C333G;refseq.proteinCoordStr_4=p.V417G;refseq.proteinCoordStr_5=p.V416G;refseq.proteinCoordStr_6=p.C330G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Val;refseq.referenceAA_5=Val;refseq.referenceAA_6=Cys;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=TGT;refseq.referenceCodon_4=GTG;refseq.referenceCodon_5=GTG;refseq.referenceCodon_6=TGT;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.spliceDist_5=12;refseq.spliceDist_6=12;refseq.start_1=34471977;refseq.start_2=34471977;refseq.start_3=34471977;refseq.start_4=34471977;refseq.start_5=34471977;refseq.start_6=34471977;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGG;refseq.variantCodon_5=GGG;refseq.variantCodon_6=GGT;set=FilteredInAll GT 0/1 chr22 34754396 . A C 41.93 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=96.05;MQ0=0;QD=20.96;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.24T>G;refseq.codingCoordStr_2=c.24T>G;refseq.codonCoord_1=8;refseq.codonCoord_2=8;refseq.end_1=34754396;refseq.end_2=34754396;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=136;refseq.mrnaCoord_2=136;refseq.name2_1=RBM9;refseq.name2_2=RBM9;refseq.name_1=NM_001082578;refseq.name_2=NM_001082579;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H8Q;refseq.proteinCoordStr_2=p.H8Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=136;refseq.spliceDist_2=136;refseq.start_1=34754396;refseq.start_2=34754396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=FilteredInAll GT 1/1 chr22 34867446 . A T 355.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=5.37;MQ=98.81;MQ0=0;OQ=2768.81;QD=18.46;RankSumP=0.0345718;SB=-1392.77;SecondBestBaseQ=31;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_4=c.957T>A;refseq.codingCoordStr_5=c.357T>A;refseq.codingCoordStr_6=c.357T>A;refseq.codonCoord_4=319;refseq.codonCoord_5=119;refseq.codonCoord_6=119;refseq.end_1=34867446;refseq.end_2=34867446;refseq.end_3=34867446;refseq.end_4=34867446;refseq.end_5=34867446;refseq.end_6=34867446;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.haplotypeReference_5=A;refseq.haplotypeReference_6=A;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1321;refseq.mrnaCoord_2=1205;refseq.mrnaCoord_3=1092;refseq.mrnaCoord_4=995;refseq.mrnaCoord_5=2504;refseq.mrnaCoord_6=2441;refseq.name2_1=APOL3;refseq.name2_2=APOL3;refseq.name2_3=APOL3;refseq.name2_4=APOL3;refseq.name2_5=APOL3;refseq.name2_6=APOL3;refseq.name_1=NR_027833;refseq.name_2=NR_027834;refseq.name_3=NR_027835;refseq.name_4=NM_145640;refseq.name_5=NM_145641;refseq.name_6=NM_145642;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_4=p.G319G;refseq.proteinCoordStr_5=p.G119G;refseq.proteinCoordStr_6=p.G119G;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_4=GGT;refseq.referenceCodon_5=GGT;refseq.referenceCodon_6=GGT;refseq.spliceDist_1=607;refseq.spliceDist_2=607;refseq.spliceDist_3=607;refseq.spliceDist_4=607;refseq.spliceDist_5=607;refseq.spliceDist_6=607;refseq.start_1=34867446;refseq.start_2=34867446;refseq.start_3=34867446;refseq.start_4=34867446;refseq.start_5=34867446;refseq.start_6=34867446;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_4=GGA;refseq.variantCodon_5=GGA;refseq.variantCodon_6=GGA;set=Intersection GT 0/1 chr22 34886769 . G T 270.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=379;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=98.86;MQ0=0;OQ=6380.26;QD=16.83;RankSumP=0.414221;SB=-1672.19;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_4=c.117C>A;refseq.codingCoordStr_5=c.-484C>A;refseq.codingCoordStr_6=c.-484C>A;refseq.codonCoord_4=39;refseq.end_1=34886769;refseq.end_2=34886769;refseq.end_3=34886769;refseq.end_4=34886769;refseq.end_5=34886769;refseq.end_6=34886769;refseq.frame_4=2;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=false;refseq.inCodingRegion_6=false;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=155;refseq.mrnaCoord_3=155;refseq.mrnaCoord_4=155;refseq.mrnaCoord_5=1664;refseq.mrnaCoord_6=1601;refseq.name2_1=APOL3;refseq.name2_2=APOL3;refseq.name2_3=APOL3;refseq.name2_4=APOL3;refseq.name2_5=APOL3;refseq.name2_6=APOL3;refseq.name_1=NR_027833;refseq.name_2=NR_027834;refseq.name_3=NR_027835;refseq.name_4=NM_145640;refseq.name_5=NM_145641;refseq.name_6=NM_145642;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.positionType_5=utr5;refseq.positionType_6=utr5;refseq.proteinCoordStr_4=p.S39R;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=-107;refseq.spliceDist_2=-107;refseq.spliceDist_3=-107;refseq.spliceDist_4=-107;refseq.spliceDist_5=15;refseq.spliceDist_6=15;refseq.start_1=34886769;refseq.start_2=34886769;refseq.start_3=34886769;refseq.start_4=34886769;refseq.start_5=34886769;refseq.start_6=34886769;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_4=Arg;refseq.variantCodon_4=AGA;set=Intersection GT 0/1 chr22 34953677 . T C 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=649;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=98.82;MQ0=0;OQ=25643.42;QD=39.51;RankSumP=1.00000;SB=-11523.65;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.733A>G;refseq.codingCoordStr_2=c.733A>G;refseq.codonCoord_1=245;refseq.codonCoord_2=245;refseq.end_1=34953677;refseq.end_2=34953677;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1069;refseq.mrnaCoord_2=1210;refseq.name2_1=APOL2;refseq.name2_2=APOL2;refseq.name_1=NM_030882;refseq.name_2=NM_145637;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.I245V;refseq.proteinCoordStr_2=p.I245V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.spliceDist_1=596;refseq.spliceDist_2=596;refseq.start_1=34953677;refseq.start_2=34953677;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 1/1 chr22 34991276 . G A 246.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=399;Dels=0.00;HRun=1;HaplotypeScore=7.01;MQ=98.89;MQ0=0;OQ=16592.41;QD=41.58;RankSumP=1.00000;SB=-5500.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.448G>A;refseq.codingCoordStr_2=c.394G>A;refseq.codingCoordStr_3=c.448G>A;refseq.codingCoordStr_4=c.496G>A;refseq.codonCoord_1=150;refseq.codonCoord_2=132;refseq.codonCoord_3=150;refseq.codonCoord_4=166;refseq.end_1=34991276;refseq.end_2=34991276;refseq.end_3=34991276;refseq.end_4=34991276;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=562;refseq.mrnaCoord_3=616;refseq.mrnaCoord_4=770;refseq.name2_1=APOL1;refseq.name2_2=APOL1;refseq.name2_3=APOL1;refseq.name2_4=APOL1;refseq.name_1=NM_001136540;refseq.name_2=NM_001136541;refseq.name_3=NM_003661;refseq.name_4=NM_145343;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E150K;refseq.proteinCoordStr_2=p.E132K;refseq.proteinCoordStr_3=p.E150K;refseq.proteinCoordStr_4=p.E166K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_1=134;refseq.spliceDist_2=134;refseq.spliceDist_3=134;refseq.spliceDist_4=134;refseq.start_1=34991276;refseq.start_2=34991276;refseq.start_3=34991276;refseq.start_4=34991276;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr22 34991482 . C A 186.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=566;Dels=0.00;HRun=0;HaplotypeScore=14.47;MQ=98.80;MQ0=0;OQ=22480.87;QD=39.72;RankSumP=1.00000;SB=-4216.29;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.654C>A;refseq.codingCoordStr_2=c.600C>A;refseq.codingCoordStr_3=c.654C>A;refseq.codingCoordStr_4=c.702C>A;refseq.codonCoord_1=218;refseq.codonCoord_2=200;refseq.codonCoord_3=218;refseq.codonCoord_4=234;refseq.end_1=34991482;refseq.end_2=34991482;refseq.end_3=34991482;refseq.end_4=34991482;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=861;refseq.mrnaCoord_2=768;refseq.mrnaCoord_3=822;refseq.mrnaCoord_4=976;refseq.name2_1=APOL1;refseq.name2_2=APOL1;refseq.name2_3=APOL1;refseq.name2_4=APOL1;refseq.name_1=NM_001136540;refseq.name_2=NM_001136541;refseq.name_3=NM_003661;refseq.name_4=NM_145343;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A218A;refseq.proteinCoordStr_2=p.A200A;refseq.proteinCoordStr_3=p.A218A;refseq.proteinCoordStr_4=p.A234A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=340;refseq.spliceDist_2=340;refseq.spliceDist_3=340;refseq.spliceDist_4=340;refseq.start_1=34991482;refseq.start_2=34991482;refseq.start_3=34991482;refseq.start_4=34991482;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;refseq.variantCodon_4=GCA;set=Intersection GT 1/1 chr22 34991512 . G A 392.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=330;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=98.83;MQ0=0;OQ=14084.32;QD=42.68;RankSumP=1.00000;SB=-2205.76;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.684G>A;refseq.codingCoordStr_2=c.630G>A;refseq.codingCoordStr_3=c.684G>A;refseq.codingCoordStr_4=c.732G>A;refseq.codonCoord_1=228;refseq.codonCoord_2=210;refseq.codonCoord_3=228;refseq.codonCoord_4=244;refseq.end_1=34991512;refseq.end_2=34991512;refseq.end_3=34991512;refseq.end_4=34991512;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=891;refseq.mrnaCoord_2=798;refseq.mrnaCoord_3=852;refseq.mrnaCoord_4=1006;refseq.name2_1=APOL1;refseq.name2_2=APOL1;refseq.name2_3=APOL1;refseq.name2_4=APOL1;refseq.name_1=NM_001136540;refseq.name_2=NM_001136541;refseq.name_3=NM_003661;refseq.name_4=NM_145343;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M228I;refseq.proteinCoordStr_2=p.M210I;refseq.proteinCoordStr_3=p.M228I;refseq.proteinCoordStr_4=p.M244I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=370;refseq.spliceDist_2=370;refseq.spliceDist_3=370;refseq.spliceDist_4=370;refseq.start_1=34991512;refseq.start_2=34991512;refseq.start_3=34991512;refseq.start_4=34991512;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;refseq.variantCodon_3=ATA;refseq.variantCodon_4=ATA;set=Intersection GT 1/1 chr22 34991592 . G A 293.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.48;MQ0=0;OQ=3955.72;QD=42.53;RankSumP=1.00000;SB=-1719.65;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.764G>A;refseq.codingCoordStr_2=c.710G>A;refseq.codingCoordStr_3=c.764G>A;refseq.codingCoordStr_4=c.812G>A;refseq.codonCoord_1=255;refseq.codonCoord_2=237;refseq.codonCoord_3=255;refseq.codonCoord_4=271;refseq.end_1=34991592;refseq.end_2=34991592;refseq.end_3=34991592;refseq.end_4=34991592;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=971;refseq.mrnaCoord_2=878;refseq.mrnaCoord_3=932;refseq.mrnaCoord_4=1086;refseq.name2_1=APOL1;refseq.name2_2=APOL1;refseq.name2_3=APOL1;refseq.name2_4=APOL1;refseq.name_1=NM_001136540;refseq.name_2=NM_001136541;refseq.name_3=NM_003661;refseq.name_4=NM_145343;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R255K;refseq.proteinCoordStr_2=p.R237K;refseq.proteinCoordStr_3=p.R255K;refseq.proteinCoordStr_4=p.R271K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=450;refseq.spliceDist_2=450;refseq.spliceDist_3=450;refseq.spliceDist_4=450;refseq.start_1=34991592;refseq.start_2=34991592;refseq.start_3=34991592;refseq.start_4=34991592;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/1 chr22 34991788 . G A 425 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.37;MQ0=0;OQ=3076.47;QD=39.95;RankSumP=1.00000;SB=-1451.70;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.960G>A;refseq.codingCoordStr_2=c.906G>A;refseq.codingCoordStr_3=c.960G>A;refseq.codingCoordStr_4=c.1008G>A;refseq.codonCoord_1=320;refseq.codonCoord_2=302;refseq.codonCoord_3=320;refseq.codonCoord_4=336;refseq.end_1=34991788;refseq.end_2=34991788;refseq.end_3=34991788;refseq.end_4=34991788;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1167;refseq.mrnaCoord_2=1074;refseq.mrnaCoord_3=1128;refseq.mrnaCoord_4=1282;refseq.name2_1=APOL1;refseq.name2_2=APOL1;refseq.name2_3=APOL1;refseq.name2_4=APOL1;refseq.name_1=NM_001136540;refseq.name_2=NM_001136541;refseq.name_3=NM_003661;refseq.name_4=NM_145343;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R320R;refseq.proteinCoordStr_2=p.R302R;refseq.proteinCoordStr_3=p.R320R;refseq.proteinCoordStr_4=p.R336R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.referenceCodon_4=AGG;refseq.spliceDist_1=646;refseq.spliceDist_2=646;refseq.spliceDist_3=646;refseq.spliceDist_4=646;refseq.start_1=34991788;refseq.start_2=34991788;refseq.start_3=34991788;refseq.start_4=34991788;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;refseq.variantCodon_4=AGA;set=Intersection GT 1/1 chr22 35018124 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=293;Dels=0.00;HRun=0;HaplotypeScore=12.00;MQ=98.66;MQ0=0;OQ=5258.81;QD=17.95;RankSumP=0.404473;SB=-2020.05;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4198C>T;refseq.codonCoord=1400;refseq.end=35018124;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4429;refseq.name=NM_002473;refseq.name2=MYH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.R1400W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=103;refseq.start=35018124;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/0 chr22 35021553 . A C 462.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=98.37;MQ0=0;OQ=5295.81;QD=38.66;RankSumP=1.00000;SB=-2222.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3429T>G;refseq.codonCoord=1143;refseq.end=35021553;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3660;refseq.name=NM_002473;refseq.name2=MYH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1143A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-57;refseq.start=35021553;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chr22 35030121 . A G 218.45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=288;Dels=0.00;HRun=1;HaplotypeScore=8.64;MQ=98.76;MQ0=0;OQ=5136.30;QD=17.83;RankSumP=0.131097;SB=-2070.02;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2256T>C;refseq.codonCoord=752;refseq.end=35030121;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2487;refseq.name=NM_002473;refseq.name2=MYH9;refseq.positionType=CDS;refseq.proteinCoordStr=p.N752N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=27;refseq.start=35030121;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 0/1 chr22 35230217 . T C 297.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=98.72;MQ0=0;OQ=12686.67;QD=40.15;RankSumP=1.00000;SB=-6096.07;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.923A>G;refseq.codingCoordStr_2=c.923A>G;refseq.codonCoord_1=308;refseq.codonCoord_2=308;refseq.end_1=35230217;refseq.end_2=35230217;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1017;refseq.mrnaCoord_2=1056;refseq.name2_1=FOXRED2;refseq.name2_2=FOXRED2;refseq.name_1=NM_001102371;refseq.name_2=NM_024955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N308S;refseq.proteinCoordStr_2=p.N308S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=-127;refseq.spliceDist_2=-127;refseq.start_1=35230217;refseq.start_2=35230217;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chr22 35230752 . A G 215.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.94;MQ0=0;OQ=2266.10;QD=36.55;RankSumP=1.00000;SB=-433.55;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.535T>C;refseq.codingCoordStr_2=c.535T>C;refseq.codonCoord_1=179;refseq.codonCoord_2=179;refseq.end_1=35230752;refseq.end_2=35230752;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=629;refseq.mrnaCoord_2=668;refseq.name2_1=FOXRED2;refseq.name2_2=FOXRED2;refseq.name_1=NM_001102371;refseq.name_2=NM_024955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F179L;refseq.proteinCoordStr_2=p.F179L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=35230752;refseq.start_2=35230752;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chr22 35590106 . A C 0.01 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=93;Dels=0.00;HRun=2;HaplotypeScore=18.65;MQ=97.72;MQ0=0;OQ=159.73;QD=1.72;RankSumP=0.00000;SB=53.18;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.106A>C;refseq.codingCoordStr_2=c.106A>C;refseq.codonCoord_1=36;refseq.codonCoord_2=36;refseq.end_1=35590106;refseq.end_2=35590106;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=290;refseq.mrnaCoord_2=290;refseq.name2_1=NCF4;refseq.name2_2=NCF4;refseq.name_1=NM_000631;refseq.name_2=NM_013416;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T36P;refseq.proteinCoordStr_2=p.T36P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=35590106;refseq.start_2=35590106;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chr22 35601828 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=555;Dels=0.00;HRun=1;HaplotypeScore=27.36;MQ=98.47;MQ0=0;OQ=19334.12;QD=34.84;RankSumP=1.00000;SB=-6544.90;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.815T>C;refseq.codonCoord_2=272;refseq.end_1=35602006;refseq.end_2=35601828;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=999;refseq.name2_1=NCF4;refseq.name2_2=NCF4;refseq.name_1=NM_000631;refseq.name_2=NM_013416;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L272P;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=188;refseq.start_1=35601782;refseq.start_2=35601828;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCG;set=Intersection GT 1/1 chr22 35649273 . A C 97 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=7.62189e-08;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.118A>C;refseq.codonCoord=40;refseq.end=35649273;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=335;refseq.name=NM_000395;refseq.name2=CSF2RB;refseq.positionType=CDS;refseq.proteinCoordStr=p.T40P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=42;refseq.start=35649273;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 35655779 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=99.00;MQ0=0;OQ=912.07;QD=15.73;RankSumP=0.0815881;SB=-269.22;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.702C>T;refseq.codonCoord=234;refseq.end=35655779;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=919;refseq.name=NM_000395;refseq.name2=CSF2RB;refseq.positionType=CDS;refseq.proteinCoordStr=p.C234C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-17;refseq.start=35655779;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 0/1 chr22 35663740 . A G 13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=92.44;MQ0=0;OQ=56.69;QD=7.09;RankSumP=0.700000;SB=-39.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1944A>G;refseq.codonCoord=648;refseq.end=35663740;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_000395;refseq.name2=CSF2RB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P648P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=376;refseq.start=35663740;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=filterInsoap-gatk GT 0/1 chr22 35744670 . G C 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.527313;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.50C>G;refseq.codonCoord=17;refseq.end=35744670;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=122;refseq.name=NM_003312;refseq.name2=TST;refseq.positionType=CDS;refseq.proteinCoordStr=p.A17G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=71;refseq.start=35744670;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr22 35792882 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=15.01;MQ=98.75;MQ0=0;OQ=4733.62;QD=18.49;RankSumP=0.474645;SB=-1926.55;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2207T>C;refseq.codonCoord=736;refseq.end=35792882;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2321;refseq.name=NM_153609;refseq.name2=TMPRSS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V736A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=67;refseq.start=35792882;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr22 35799537 . G A 354.49 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=597;Dels=0.00;HRun=0;HaplotypeScore=9.29;MQ=98.65;MQ0=0;OQ=10593.59;QD=17.74;RankSumP=0.154499;SB=-1993.00;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1563C>T;refseq.codonCoord=521;refseq.end=35799537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1677;refseq.name=NM_153609;refseq.name2=TMPRSS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.D521D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-20;refseq.start=35799537;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr22 35801236 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=98.91;MQ0=0;OQ=371.58;QD=7.01;RankSumP=0.0483170;SB=-176.22;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1254C>T;refseq.codonCoord=418;refseq.end=35801236;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1368;refseq.name=NM_153609;refseq.name2=TMPRSS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y418Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=31;refseq.start=35801236;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr22 35815670 . T C 149.32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.85;MQ0=0;OQ=930.59;QD=14.32;RankSumP=0.102733;SB=-390.10;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.757A>G;refseq.codonCoord=253;refseq.end=35815670;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_153609;refseq.name2=TMPRSS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K253E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=99;refseq.start=35815670;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr22 35829332 . C T 207.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=97.81;MQ0=0;OQ=1460.35;QD=15.37;RankSumP=0.0139725;SB=-374.10;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.99G>A;refseq.codonCoord=33;refseq.end=35829332;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=213;refseq.name=NM_153609;refseq.name2=TMPRSS6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P33P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=73;refseq.start=35829332;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chr22 35908525 . C T 285.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=98.87;MQ0=0;OQ=4711.56;QD=22.22;RankSumP=0.0333044;SB=-1931.82;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.486G>A;refseq.codingCoordStr_2=c.486G>A;refseq.codonCoord_1=162;refseq.codonCoord_2=162;refseq.end_1=35908525;refseq.end_2=35908525;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=563;refseq.mrnaCoord_2=563;refseq.name2_1=C1QTNF6;refseq.name2_2=C1QTNF6;refseq.name_1=NM_031910;refseq.name_2=NM_182486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T162T;refseq.proteinCoordStr_2=p.T162T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=197;refseq.spliceDist_2=197;refseq.start_1=35908525;refseq.start_2=35908525;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 0/1 chr22 35911368 . G C 301.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=9.37;MQ=98.51;MQ0=0;OQ=2354.41;QD=16.46;RankSumP=0.0416313;SB=-1176.07;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.125C>G;refseq.codingCoordStr_2=c.125C>G;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=35911368;refseq.end_2=35911368;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=202;refseq.mrnaCoord_2=202;refseq.name2_1=C1QTNF6;refseq.name2_2=C1QTNF6;refseq.name_1=NM_031910;refseq.name_2=NM_182486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P42R;refseq.proteinCoordStr_2=p.P42R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.spliceDist_1=74;refseq.spliceDist_2=74;refseq.start_1=35911368;refseq.start_2=35911368;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;set=Intersection GT 0/1 chr22 35911431 . C A 220.68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=9.58;MQ=98.66;MQ0=0;OQ=5367.11;QD=35.54;RankSumP=1.00000;SB=-1886.70;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.62G>T;refseq.codingCoordStr_2=c.62G>T;refseq.codonCoord_1=21;refseq.codonCoord_2=21;refseq.end_1=35911431;refseq.end_2=35911431;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=139;refseq.mrnaCoord_2=139;refseq.name2_1=C1QTNF6;refseq.name2_2=C1QTNF6;refseq.name_1=NM_031910;refseq.name_2=NM_182486;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G21V;refseq.proteinCoordStr_2=p.G21V;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGG;refseq.referenceCodon_2=GGG;refseq.spliceDist_1=11;refseq.spliceDist_2=11;refseq.start_1=35911431;refseq.start_2=35911431;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chr22 35932533 . T C 86 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00635057;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1256A>G;refseq.codonCoord=419;refseq.end=35932533;refseq.frame=1;refseq.functionalClass=readthrough;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1781;refseq.name=NM_001051;refseq.name2=SSTR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.*419W;refseq.referenceAA=Stop;refseq.referenceCodon=TAG;refseq.spliceDist=-343;refseq.start=35932533;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chr22 35932967 . G A 146.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=98.36;MQ0=0;OQ=1488.34;QD=13.29;RankSumP=0.0533393;SB=-700.91;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.822C>T;refseq.codonCoord=274;refseq.end=35932967;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1347;refseq.name=NM_001051;refseq.name2=SSTR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y274Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-777;refseq.start=35932967;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr22 35932997 . C T 268.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=6.51;MQ=96.70;MQ0=0;OQ=1488.82;QD=16.54;RankSumP=0.343100;SB=-632.64;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.792G>A;refseq.codonCoord=264;refseq.end=35932997;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1317;refseq.name=NM_001051;refseq.name2=SSTR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-807;refseq.start=35932997;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 35933336 . C T 233.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=97.99;MQ0=0;OQ=1542.12;QD=16.06;RankSumP=0.226602;SB=-462.84;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.453G>A;refseq.codonCoord=151;refseq.end=35933336;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=978;refseq.name=NM_001051;refseq.name2=SSTR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.S151S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=489;refseq.start=35933336;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr22 35933690 . C T 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=98.74;MQ0=0;OQ=231.88;QD=10.54;RankSumP=0.628072;SB=-140.14;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.99G>A;refseq.codonCoord=33;refseq.end=35933690;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=624;refseq.name=NM_001051;refseq.name2=SSTR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A33A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=135;refseq.start=35933690;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 35952761 . A G 119.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=205;Dels=0.00;HRun=1;HaplotypeScore=4.28;MQ=97.57;MQ0=0;OQ=2971.29;QD=14.49;RankSumP=0.499335;SB=-1431.79;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.477T>C;refseq.codonCoord=159;refseq.end=35952761;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=594;refseq.name=NM_002872;refseq.name2=RAC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A159A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=29;refseq.start=35952761;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr22 35967599 . G C 243.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.66;MQ0=0;OQ=2826.07;QD=22.43;RankSumP=0.379690;SB=-1351.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.81C>G;refseq.codonCoord=27;refseq.end=35967599;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=198;refseq.name=NM_002872;refseq.name2=RAC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A27A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-27;refseq.start=35967599;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr22 36029323 . T C 153.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=7.46;MQ=97.64;MQ0=0;OQ=1235.79;QD=13.58;RankSumP=0.302019;SB=-449.03;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.630T>C;refseq.codonCoord=210;refseq.end=36029323;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=746;refseq.name=NM_013385;refseq.name2=CYTH4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F210F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-67;refseq.start=36029323;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chr22 36100012 . G T 419.45 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=97.42;MQ0=0;OQ=2572.09;QD=36.74;RankSumP=1.00000;SB=-1222.75;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1509C>A;refseq.codonCoord=503;refseq.end=36100012;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2295;refseq.name=NM_052906;refseq.name2=ELFN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I503I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=1971;refseq.start=36100012;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 1/1 chr22 36100303 . A G 182.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=8.15;MQ=98.23;MQ0=0;OQ=2132.44;QD=34.39;RankSumP=0.0973269;SB=-995.53;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1218T>C;refseq.codonCoord=406;refseq.end=36100303;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2004;refseq.name=NM_052906;refseq.name2=ELFN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F406F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=1680;refseq.start=36100303;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=filterInsoap-gatk GT 0/1 chr22 36101104 . G A 243.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.62;MQ0=0;OQ=1597.33;QD=37.15;RankSumP=1.00000;SB=-553.20;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.417C>T;refseq.codonCoord=139;refseq.end=36101104;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1203;refseq.name=NM_052906;refseq.name2=ELFN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I139I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=879;refseq.start=36101104;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chr22 36202958 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_2=c.527T>G;refseq.codingCoordStr_3=c.569T>G;refseq.codonCoord_2=176;refseq.codonCoord_3=190;refseq.end_1=36202958;refseq.end_2=36202958;refseq.end_3=36202958;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=783;refseq.mrnaCoord_2=737;refseq.mrnaCoord_3=832;refseq.name2_1=MFNG;refseq.name2_2=MFNG;refseq.name2_3=MFNG;refseq.name_1=NR_029413;refseq.name_2=NM_001166343;refseq.name_3=NM_002405;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V176G;refseq.proteinCoordStr_3=p.V190G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceDist_3=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.spliceInfo_3=splice-acceptor_8;refseq.start_1=36202958;refseq.start_2=36202958;refseq.start_3=36202958;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chr22 36294245 . C G 99.11 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.88;MQ0=0;OQ=597.02;QD=13.57;RankSumP=0.222314;SB=-120.64;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.648C>G;refseq.codonCoord=216;refseq.end=36294245;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1051;refseq.name=NM_152243;refseq.name2=CDC42EP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L216L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=185;refseq.start=36294245;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr22 36294375 . T C 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.0775456;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.778T>C;refseq.codonCoord=260;refseq.end=36294375;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1181;refseq.name=NM_152243;refseq.name2=CDC42EP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S260P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=315;refseq.start=36294375;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chr22 36376596 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1516A>C;refseq.codonCoord=506;refseq.end=36376596;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1627;refseq.name=NM_018957;refseq.name2=SH3BP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T506P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-83;refseq.start=36376596;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 36449159 . G A 79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=97.61;MQ0=0;OQ=265.05;QD=13.95;RankSumP=0.527389;SB=-114.62;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.650G>A;refseq.codonCoord=217;refseq.end=36449159;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S217N;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=22;refseq.start=36449159;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chr22 36449952 . T C 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.310503;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1443T>C;refseq.codonCoord=481;refseq.end=36449952;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1714;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C481C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=815;refseq.start=36449952;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr22 36449987 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.551957;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1478G>A;refseq.codonCoord=493;refseq.end=36449987;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1749;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S493N;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=850;refseq.start=36449987;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT 1/0 chr22 36450246 . T C 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=0;RankSumP=0.566648;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1737T>C;refseq.codonCoord=579;refseq.end=36450246;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2008;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.C579C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=1109;refseq.start=36450246;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=soap GT 1/0 chr22 36450289 . A G 37 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.158348;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1780A>G;refseq.codonCoord=594;refseq.end=36450289;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2051;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.T594A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1152;refseq.start=36450289;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=soap GT 0/1 chr22 36450375 . T C 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.385382;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1866T>C;refseq.codonCoord=622;refseq.end=36450375;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2137;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D622D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1238;refseq.start=36450375;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chr22 36451098 . C A 112.77 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=329;Dels=0.00;HRun=2;HaplotypeScore=5.39;MQ=98.44;MQ0=0;OQ=5132.82;QD=15.60;RankSumP=0.336896;SB=-1941.78;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2589C>A;refseq.codonCoord=863;refseq.end=36451098;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2860;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.N863K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-1359;refseq.start=36451098;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chr22 36452068 . T C 112.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=137;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=98.10;MQ0=0;OQ=2075.00;QD=15.15;RankSumP=0.268482;SB=-870.99;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3559T>C;refseq.codonCoord=1187;refseq.end=36452068;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3830;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1187L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-389;refseq.start=36452068;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr22 36452394 . C T 82.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=99.00;MQ0=0;OQ=195.09;QD=19.51;RankSumP=0.0887446;SB=-10.00;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3885C>T;refseq.codonCoord=1295;refseq.end=36452394;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4156;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1295S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-63;refseq.start=36452394;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 0/1 chr22 36452408 . A G 19.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=148.79;QD=29.76;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3899A>G;refseq.codonCoord=1300;refseq.end=36452408;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4170;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.H1300R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-49;refseq.start=36452408;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chr22 36459278 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=194.07;QD=17.64;RankSumP=0.662121;SB=-0.97;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3975G>A;refseq.codonCoord=1325;refseq.end=36459278;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4246;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1325Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=28;refseq.start=36459278;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr22 36460405 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=98.86;MQ0=0;OQ=1818.90;QD=11.37;RankSumP=0.0122245;SB=-753.14;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4116G>T;refseq.codonCoord=1372;refseq.end=36460405;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4387;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.E1372D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=54;refseq.start=36460405;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr22 36460418 . T C 417.36 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.85;MQ0=0;OQ=5211.73;QD=36.19;RankSumP=1.00000;SB=-1654.33;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4129T>C;refseq.codonCoord=1377;refseq.end=36460418;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4400;refseq.name=NM_001039141;refseq.name2=TRIOBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1377R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=67;refseq.start=36460418;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr22 36481116 . G A 215 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=96.13;MQ0=0;OQ=2038.63;QD=14.56;RankSumP=0.123498;SB=-777.21;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.5550G>A;refseq.codingCoordStr_2=c.411G>A;refseq.codingCoordStr_3=c.411G>A;refseq.codonCoord_1=1850;refseq.codonCoord_2=137;refseq.codonCoord_3=137;refseq.end_1=36481116;refseq.end_2=36481116;refseq.end_3=36481116;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=5821;refseq.mrnaCoord_2=415;refseq.mrnaCoord_3=415;refseq.name2_1=TRIOBP;refseq.name2_2=TRIOBP;refseq.name2_3=TRIOBP;refseq.name_1=NM_001039141;refseq.name_2=NM_007032;refseq.name_3=NM_138632;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1850V;refseq.proteinCoordStr_2=p.V137V;refseq.proteinCoordStr_3=p.V137V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=36481116;refseq.start_2=36481116;refseq.start_3=36481116;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/0 chr22 36494052 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.96;MQ0=0;OQ=643.13;QD=9.60;RankSumP=0.434950;SB=-120.48;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.6498C>T;refseq.codingCoordStr_2=c.1359C>T;refseq.codonCoord_1=2166;refseq.codonCoord_2=453;refseq.end_1=36494052;refseq.end_2=36494052;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=6769;refseq.mrnaCoord_2=1363;refseq.name2_1=TRIOBP;refseq.name2_2=TRIOBP;refseq.name_1=NM_001039141;refseq.name_2=NM_007032;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y2166Y;refseq.proteinCoordStr_2=p.Y453Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=36494052;refseq.start_2=36494052;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;set=Intersection GT 0/1 chr22 36534035 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=92.58;MQ0=0;OQ=391.09;QD=11.85;RankSumP=0.186045;SB=-189.23;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.115C>T;refseq.codingCoordStr_2=c.115C>T;refseq.codonCoord_1=39;refseq.codonCoord_2=39;refseq.end_1=36534035;refseq.end_2=36534035;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=178;refseq.mrnaCoord_2=178;refseq.name2_1=GCAT;refseq.name2_2=GCAT;refseq.name_1=NM_001171690;refseq.name_2=NM_014291;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R39C;refseq.proteinCoordStr_2=p.R39C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=36534035;refseq.start_2=36534035;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 0/1 chr22 36550910 . T C 67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=96.48;MQ0=0;OQ=114.82;QD=6.04;RankSumP=0.595936;SB=-10.00;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.594T>C;refseq.codonCoord=198;refseq.end=36550910;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=619;refseq.name=NM_003614;refseq.name2=GALR3;refseq.positionType=CDS;refseq.proteinCoordStr=p.A198A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=235;refseq.start=36550910;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr22 36600347 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.776A>G;refseq.codonCoord=259;refseq.end=36600347;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=863;refseq.name=NM_016091;refseq.name2=EIF3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.E259G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=25;refseq.start=36600347;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 36603695 . T C 321.56 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=460;Dels=0.00;HRun=0;HaplotypeScore=10.74;MQ=95.81;MQ0=0;OQ=8240.86;QD=17.91;RankSumP=0.174414;SB=-2881.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1146T>C;refseq.codonCoord=382;refseq.end=36603695;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_016091;refseq.name2=EIF3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.I382I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=69;refseq.start=36603695;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr22 36671080 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=201;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=98.91;MQ0=0;OQ=2772.81;QD=13.80;RankSumP=0.329773;SB=-969.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.396A>G;refseq.codonCoord=132;refseq.end=36671080;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=653;refseq.name=NM_032561;refseq.name2=C22orf23;refseq.positionType=CDS;refseq.proteinCoordStr=p.T132T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=47;refseq.start=36671080;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 1/0 chr22 36699561 . G A 33.32 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=97.92;MQ0=0;QD=4.16;RankSumP=0.166667;SB=-37.61;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1288C>T;refseq.codonCoord=430;refseq.end=36699561;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1566;refseq.name=NM_006941;refseq.name2=SOX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.P430S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=591;refseq.start=36699561;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chr22 36699922 . A G 46.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=97.25;MQ0=0;QD=2.35;RankSumP=0.559954;SB=-17.88;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.927T>C;refseq.codonCoord=309;refseq.end=36699922;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1205;refseq.name=NM_006941;refseq.name2=SOX10;refseq.positionType=CDS;refseq.proteinCoordStr=p.H309H;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=230;refseq.start=36699922;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chr22 36795013 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=3.41885e-07;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.377T>G;refseq.codingCoordStr_2=c.377T>G;refseq.codingCoordStr_3=c.377T>G;refseq.codonCoord_1=126;refseq.codonCoord_2=126;refseq.codonCoord_3=126;refseq.end_1=36795013;refseq.end_2=36795013;refseq.end_3=36795013;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=669;refseq.mrnaCoord_2=616;refseq.mrnaCoord_3=767;refseq.name2_1=PICK1;refseq.name2_2=PICK1;refseq.name2_3=PICK1;refseq.name_1=NM_001039583;refseq.name_2=NM_001039584;refseq.name_3=NM_012407;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V126G;refseq.proteinCoordStr_2=p.V126G;refseq.proteinCoordStr_3=p.V126G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=28;refseq.spliceDist_2=28;refseq.spliceDist_3=28;refseq.start_1=36795013;refseq.start_2=36795013;refseq.start_3=36795013;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr22 36804642 . A G 247.86 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=98.80;MQ0=0;OQ=1720.02;QD=18.11;RankSumP=0.338516;SB=-616.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1214T>C;refseq.codonCoord=405;refseq.end=36804642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1344;refseq.name=NM_013356;refseq.name2=SLC16A8;refseq.positionType=CDS;refseq.proteinCoordStr=p.V405A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=16;refseq.start=36804642;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chr22 36812301 . C G 5 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DP=4;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=82.51;QD=20.63;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1361G>C;refseq.codonCoord=454;refseq.end=36812301;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1505;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R454P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=102;refseq.start=36812301;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=filterInsoap-gatk GT 1/1 chr22 36812338 . C G 14.78 LowQual AC=1;AF=0.50;AN=2;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=84.93;MQ0=0;QD=7.39;SB=-10.00;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1324G>C;refseq.codonCoord=442;refseq.end=36812338;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1468;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A442P;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=65;refseq.start=36812338;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,2:1:-4.75,-0.30,-0.00:1.76 chr22 36812339 . T G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=17;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1323A>C;refseq.codonCoord=441;refseq.end=36812339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1467;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I441I;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=64;refseq.start=36812339;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=FilteredInAll GT 1/1 chr22 36812340 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=16;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1322T>C;refseq.codonCoord=441;refseq.end=36812340;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1466;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I441T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=63;refseq.start=36812340;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=FilteredInAll GT 1/1 chr22 36813101 . T G 28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.273810;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1235A>C;refseq.codonCoord=412;refseq.end=36813101;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1379;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N412T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-25;refseq.start=36813101;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=soap GT 1/0 chr22 36836455 . A G 338.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.41;MQ0=0;OQ=3462.72;QD=40.74;RankSumP=1.00000;SB=-1363.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.24T>C;refseq.codonCoord=8;refseq.end=36836455;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=168;refseq.name=NM_025045;refseq.name2=BAIAP2L2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F8F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-28;refseq.start=36836455;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 36871406 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=5.12665e-06;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.410A>C;refseq.codingCoordStr_2=c.410A>C;refseq.codonCoord_1=137;refseq.codonCoord_2=137;refseq.end_1=36871406;refseq.end_2=36871406;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=546;refseq.mrnaCoord_2=546;refseq.name2_1=PLA2G6;refseq.name2_2=PLA2G6;refseq.name_1=NM_001004426;refseq.name_2=NM_003560;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H137P;refseq.proteinCoordStr_2=p.H137P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-16;refseq.spliceDist_2=-16;refseq.start_1=36871406;refseq.start_2=36871406;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 37153082 . T C 138.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=99.00;MQ0=0;OQ=1057.24;QD=14.29;RankSumP=0.0907953;SB=-254.52;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1002A>G;refseq.codingCoordStr_2=c.1002A>G;refseq.codonCoord_1=334;refseq.codonCoord_2=334;refseq.end_1=37153082;refseq.end_2=37153082;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1099;refseq.mrnaCoord_2=1259;refseq.name2_1=KCNJ4;refseq.name2_2=KCNJ4;refseq.name_1=NM_004981;refseq.name_2=NM_152868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S334S;refseq.proteinCoordStr_2=p.S334S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=-804;refseq.spliceDist_2=-804;refseq.start_1=37153082;refseq.start_2=37153082;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;set=Intersection GT 1/0 chr22 37212009 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.2073A>C;refseq.codingCoordStr_2=c.423A>C;refseq.codingCoordStr_3=c.2067A>C;refseq.codingCoordStr_4=c.429A>C;refseq.codonCoord_1=691;refseq.codonCoord_2=141;refseq.codonCoord_3=689;refseq.codonCoord_4=143;refseq.end_1=37212009;refseq.end_2=37212009;refseq.end_3=37212009;refseq.end_4=37212009;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2176;refseq.mrnaCoord_2=1035;refseq.mrnaCoord_3=2170;refseq.mrnaCoord_4=1041;refseq.name2_1=DDX17;refseq.name2_2=DDX17;refseq.name2_3=DDX17;refseq.name2_4=DDX17;refseq.name_1=NM_001098504;refseq.name_2=NM_001098505;refseq.name_3=NM_006386;refseq.name_4=NM_030881;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P691P;refseq.proteinCoordStr_2=p.P141P;refseq.proteinCoordStr_3=p.P689P;refseq.proteinCoordStr_4=p.P143P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_1=383;refseq.spliceDist_2=383;refseq.spliceDist_3=383;refseq.spliceDist_4=383;refseq.start_1=37212009;refseq.start_2=37212009;refseq.start_3=37212009;refseq.start_4=37212009;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=FilteredInAll GT 1/0 chr22 37224070 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.704A>C;refseq.codingCoordStr_2=c.704A>C;refseq.codonCoord_1=235;refseq.codonCoord_2=235;refseq.end_1=37224070;refseq.end_2=37224070;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=807;refseq.mrnaCoord_2=807;refseq.name2_1=DDX17;refseq.name2_2=DDX17;refseq.name_1=NM_001098504;refseq.name_2=NM_006386;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H235P;refseq.proteinCoordStr_2=p.H235P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.start_1=37224070;refseq.start_2=37224070;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 37408949 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.chr=chr22;refseq.codingCoordStr=c.354+2;refseq.end=37408949;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_020243;refseq.name2=TOMM22;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=37408949;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr22 37454069 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1673T>G;refseq.codonCoord=558;refseq.end=37454069;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1827;refseq.name=NM_004286;refseq.name2=GTPBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V558G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-44;refseq.start=37454069;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 37552598 . G A 204.60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=794.87;QD=18.07;RankSumP=0.246276;SB=-399.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.951C>T;refseq.codonCoord=317;refseq.end=37552598;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1105;refseq.name=NM_014293;refseq.name2=NPTXR;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y317Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=101;refseq.start=37552598;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr22 37597707 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.115T>G;refseq.codonCoord=39;refseq.end=37597707;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=178;refseq.name=NM_014292;refseq.name2=CBX6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y39D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=37597707;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 0/1 chr22 37711772 . A G 325.85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=86.53;MQ0=5;OQ=7227.14;QD=33.46;RankSumP=1.00000;SB=-1838.74;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.184A>G;refseq.codonCoord=62;refseq.end=37711772;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=238;refseq.name=NM_004900;refseq.name2=APOBEC3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.K62E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=37711772;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chr22 37711945 . T C 98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=256;Dels=0.00;HRun=1;HaplotypeScore=61.77;MQ=38.09;MQ0=133;OQ=2072.37;QD=8.10;RankSumP=1.00000;SB=-563.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.357T>C;refseq.codonCoord=119;refseq.end=37711945;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=411;refseq.name=NM_004900;refseq.name2=APOBEC3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S119S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-98;refseq.start=37711945;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=soap-filterIngatk GT 1/1 chr22 37712025 . C A 257.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=5.32;MQ=46.34;MQ0=8;OQ=6976.42;QD=35.59;RankSumP=1.00000;SB=-1742.77;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.437C>A;refseq.codonCoord=146;refseq.end=37712025;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=491;refseq.name=NM_004900;refseq.name2=APOBEC3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T146K;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-18;refseq.start=37712025;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr22 37717504 . C T 76.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=809;Dels=0.00;HRun=0;HaplotypeScore=16.07;MQ=30.52;MQ0=36;OQ=15003.69;QD=18.55;RankSumP=0.300685;SB=-4326.68;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.945C>T;refseq.codonCoord=315;refseq.end=37717504;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=999;refseq.name=NM_004900;refseq.name2=APOBEC3B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y315Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-74;refseq.start=37717504;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=filterInsoap-gatk GT 0/1 chr22 37770095 . C T 134.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=297.73;QD=15.67;RankSumP=0.520100;SB=-78.31;SecondBestBaseQ=30;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.233C>T;refseq.codonCoord_2=78;refseq.end_1=37770881;refseq.end_2=37770095;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=526;refseq.name2_1=APOBEC3F;refseq.name2_2=APOBEC3F;refseq.name_1=NM_145298;refseq.name_2=NM_001006666;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A78V;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=62;refseq.start_1=37769052;refseq.start_2=37770095;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chr22 37771042 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=37.74;MQ=46.24;MQ0=123;OQ=1375.12;QD=3.23;RankSumP=0.173135;SB=-309.45;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.322G>T;refseq.codonCoord=108;refseq.end=37771042;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=615;refseq.name=NM_145298;refseq.name2=APOBEC3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.A108S;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-130;refseq.start=37771042;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=soap-filterIngatk GT 0/1 chr22 37771149 . C T 133.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=11.54;MQ=86.77;MQ0=13;OQ=1884.05;QD=13.96;RankSumP=0.144565;SB=-417.89;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.429C>T;refseq.codonCoord=143;refseq.end=37771149;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=722;refseq.name=NM_145298;refseq.name2=APOBEC3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.R143R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-23;refseq.start=37771149;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 0/1 chr22 37775500 . G A 187.72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=182;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=98.46;MQ0=0;OQ=2423.53;QD=13.32;RankSumP=0.0618666;SB=-1169.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.691G>A;refseq.codonCoord=231;refseq.end=37775500;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=984;refseq.name=NM_145298;refseq.name2=APOBEC3F;refseq.positionType=CDS;refseq.proteinCoordStr=p.V231I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-33;refseq.start=37775500;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chr22 37826282 rs139293 G T 63.64 PASS AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=94.30;MQ0=0;OQ=1424.26;QD=11.49;SB=-488.75;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.53G>T;refseq.codingCoordStr_2=c.53G>T;refseq.codingCoordStr_3=c.53G>T;refseq.codingCoordStr_4=c.53G>T;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.codonCoord_4=18;refseq.end_1=37826282;refseq.end_2=37826282;refseq.end_3=37826282;refseq.end_4=37826282;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=180;refseq.mrnaCoord_2=180;refseq.mrnaCoord_3=180;refseq.mrnaCoord_4=180;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R18L;refseq.proteinCoordStr_2=p.R18L;refseq.proteinCoordStr_3=p.R18L;refseq.proteinCoordStr_4=p.R18L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.spliceDist_1=60;refseq.spliceDist_2=60;refseq.spliceDist_3=60;refseq.spliceDist_4=60;refseq.start_1=37826282;refseq.start_2=37826282;refseq.start_3=37826282;refseq.start_4=37826282;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;refseq.variantCodon_4=CTC;set=gatk GT:AD:DP:GL:GQ 0/1:77,46:118:-181.24,-35.53,-277.37:99 chr22 37826358 . G C 191.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=6.61;MQ=97.10;MQ0=0;OQ=4212.19;QD=41.30;RankSumP=1.00000;SB=-1129.63;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.129G>C;refseq.codingCoordStr_2=c.129G>C;refseq.codingCoordStr_3=c.129G>C;refseq.codingCoordStr_4=c.129G>C;refseq.codonCoord_1=43;refseq.codonCoord_2=43;refseq.codonCoord_3=43;refseq.codonCoord_4=43;refseq.end_1=37826358;refseq.end_2=37826358;refseq.end_3=37826358;refseq.end_4=37826358;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=256;refseq.mrnaCoord_2=256;refseq.mrnaCoord_3=256;refseq.mrnaCoord_4=256;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T43T;refseq.proteinCoordStr_2=p.T43T;refseq.proteinCoordStr_3=p.T43T;refseq.proteinCoordStr_4=p.T43T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.start_1=37826358;refseq.start_2=37826358;refseq.start_3=37826358;refseq.start_4=37826358;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/1 chr22 37827350 . G C 133.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=14.06;MQ=97.31;MQ0=0;OQ=3814.62;QD=34.06;RankSumP=1.00000;SB=-1724.72;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.313G>C;refseq.codingCoordStr_2=c.313G>C;refseq.codingCoordStr_3=c.313G>C;refseq.codingCoordStr_4=c.313G>C;refseq.codonCoord_1=105;refseq.codonCoord_2=105;refseq.codonCoord_3=105;refseq.codonCoord_4=105;refseq.end_1=37827350;refseq.end_2=37827350;refseq.end_3=37827350;refseq.end_4=37827350;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=440;refseq.mrnaCoord_2=440;refseq.mrnaCoord_3=440;refseq.mrnaCoord_4=440;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G105R;refseq.proteinCoordStr_2=p.G105R;refseq.proteinCoordStr_3=p.G105R;refseq.proteinCoordStr_4=p.G105R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.referenceCodon_4=GGC;refseq.spliceDist_1=-106;refseq.spliceDist_2=-106;refseq.spliceDist_3=-106;refseq.spliceDist_4=-106;refseq.start_1=37827350;refseq.start_2=37827350;refseq.start_3=37827350;refseq.start_4=37827350;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=Intersection GT 1/1 chr22 37827398 . A G 316.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.06;MQ0=0;OQ=3993.13;QD=40.75;RankSumP=1.00000;SB=-1757.05;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.361A>G;refseq.codingCoordStr_2=c.361A>G;refseq.codingCoordStr_3=c.361A>G;refseq.codingCoordStr_4=c.361A>G;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.codonCoord_4=121;refseq.end_1=37827398;refseq.end_2=37827398;refseq.end_3=37827398;refseq.end_4=37827398;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=488;refseq.mrnaCoord_2=488;refseq.mrnaCoord_3=488;refseq.mrnaCoord_4=488;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K121E;refseq.proteinCoordStr_2=p.K121E;refseq.proteinCoordStr_3=p.K121E;refseq.proteinCoordStr_4=p.K121E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-58;refseq.spliceDist_2=-58;refseq.spliceDist_3=-58;refseq.spliceDist_4=-58;refseq.start_1=37827398;refseq.start_2=37827398;refseq.start_3=37827398;refseq.start_4=37827398;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=Intersection GT 1/1 chr22 37827400 . G C 295.86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.48;MQ0=0;OQ=4483.84;QD=43.96;RankSumP=1.00000;SB=-2031.18;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.363G>C;refseq.codingCoordStr_2=c.363G>C;refseq.codingCoordStr_3=c.363G>C;refseq.codingCoordStr_4=c.363G>C;refseq.codonCoord_1=121;refseq.codonCoord_2=121;refseq.codonCoord_3=121;refseq.codonCoord_4=121;refseq.end_1=37827400;refseq.end_2=37827400;refseq.end_3=37827400;refseq.end_4=37827400;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=490;refseq.mrnaCoord_3=490;refseq.mrnaCoord_4=490;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K121N;refseq.proteinCoordStr_2=p.K121N;refseq.proteinCoordStr_3=p.K121N;refseq.proteinCoordStr_4=p.K121N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-56;refseq.spliceDist_2=-56;refseq.spliceDist_3=-56;refseq.spliceDist_4=-56;refseq.start_1=37827400;refseq.start_2=37827400;refseq.start_3=37827400;refseq.start_4=37827400;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=Intersection GT 1/1 chr22 37827455 . A G 195.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=97.78;MQ0=0;OQ=4215.26;QD=38.32;RankSumP=1.00000;SB=-905.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.418A>G;refseq.codingCoordStr_2=c.418A>G;refseq.codingCoordStr_3=c.418A>G;refseq.codingCoordStr_4=c.418A>G;refseq.codonCoord_1=140;refseq.codonCoord_2=140;refseq.codonCoord_3=140;refseq.codonCoord_4=140;refseq.end_1=37827455;refseq.end_2=37827455;refseq.end_3=37827455;refseq.end_4=37827455;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=545;refseq.mrnaCoord_2=545;refseq.mrnaCoord_3=545;refseq.mrnaCoord_4=545;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166002;refseq.name_2=NM_001166003;refseq.name_3=NM_001166004;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K140E;refseq.proteinCoordStr_2=p.K140E;refseq.proteinCoordStr_3=p.N140D;refseq.proteinCoordStr_4=p.K140E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Asn;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAT;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-1;refseq.spliceDist_2=-1;refseq.spliceDist_3=-1;refseq.spliceDist_4=-1;refseq.spliceInfo_1=splice-donor_-1;refseq.spliceInfo_2=splice-donor_-1;refseq.spliceInfo_3=splice-donor_-1;refseq.spliceInfo_4=splice-donor_-1;refseq.start_1=37827455;refseq.start_2=37827455;refseq.start_3=37827455;refseq.start_4=37827455;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Asp;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAG;set=Intersection GT 1/1 chr22 37827984 . G C 289.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=96.21;MQ0=0;OQ=1178.41;QD=42.09;RankSumP=1.00000;SB=-104.94;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_2=c.534G>C;refseq.codingCoordStr_3=c.534G>C;refseq.codingCoordStr_4=c.534G>C;refseq.codonCoord_2=178;refseq.codonCoord_3=178;refseq.codonCoord_4=178;refseq.end_1=37828452;refseq.end_2=37827984;refseq.end_3=37827984;refseq.end_4=37827984;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=661;refseq.mrnaCoord_3=661;refseq.mrnaCoord_4=661;refseq.name2_1=APOBEC3H;refseq.name2_2=APOBEC3H;refseq.name2_3=APOBEC3H;refseq.name2_4=APOBEC3H;refseq.name_1=NM_001166004;refseq.name_2=NM_001166002;refseq.name_3=NM_001166003;refseq.name_4=NM_181773;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.E178D;refseq.proteinCoordStr_3=p.E178D;refseq.proteinCoordStr_4=p.E178D;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceDist_4=-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.spliceInfo_4=splice-donor_-10;refseq.start_1=37827466;refseq.start_2=37827984;refseq.start_3=37827984;refseq.start_4=37827984;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/1 chr22 37878370 . T A 18.51 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=1.68;RankSumP=0.363636;SB=-30.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.26A>T;refseq.codonCoord=9;refseq.end=37878370;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=115;refseq.name=NM_175709;refseq.name2=CBX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q9L;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-44;refseq.start=37878370;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=FilteredInAll GT 1/0 chr22 38044436 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=198;Dels=0.00;HRun=0;HaplotypeScore=14.78;MQ=71.50;MQ0=60;OQ=1567.55;QD=7.92;RankSumP=0.395953;SB=-103.60;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.111G>A;refseq.codingCoordStr_2=c.111G>A;refseq.codonCoord_1=37;refseq.codonCoord_2=37;refseq.end_1=38044436;refseq.end_2=38044436;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=179;refseq.mrnaCoord_2=179;refseq.name2_1=RPL3;refseq.name2_2=RPL3;refseq.name_1=NM_000967;refseq.name_2=NM_001033853;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P37P;refseq.proteinCoordStr_2=p.P37P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-86;refseq.spliceDist_2=-86;refseq.start_1=38044436;refseq.start_2=38044436;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr22 38102060 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.395T>G;refseq.codingCoordStr_2=c.395T>G;refseq.codingCoordStr_3=c.398T>G;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.codonCoord_3=133;refseq.end_1=38102060;refseq.end_2=38102060;refseq.end_3=38102060;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=457;refseq.mrnaCoord_2=457;refseq.mrnaCoord_3=423;refseq.name2_1=SYNGR1;refseq.name2_2=SYNGR1;refseq.name2_3=SYNGR1;refseq.name_1=NM_004711;refseq.name_2=NM_145731;refseq.name_3=NM_145738;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V132G;refseq.proteinCoordStr_2=p.V132G;refseq.proteinCoordStr_3=p.V133G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=58;refseq.spliceDist_2=58;refseq.spliceDist_3=58;refseq.start_1=38102060;refseq.start_2=38102060;refseq.start_3=38102060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 1/0 chr22 38213897 . T G 22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.500004;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.599T>G;refseq.codingCoordStr_2=c.599T>G;refseq.codonCoord_1=200;refseq.codonCoord_2=200;refseq.end_1=38213897;refseq.end_2=38213897;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=838;refseq.name2_1=MGAT3;refseq.name2_2=MGAT3;refseq.name_1=NM_001098270;refseq.name_2=NM_002409;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V200G;refseq.proteinCoordStr_2=p.V200G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=723;refseq.spliceDist_2=600;refseq.start_1=38213897;refseq.start_2=38213897;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 1/0 chr22 38237965 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.310A>C;refseq.codonCoord=104;refseq.end=38237965;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=808;refseq.name=NM_019008;refseq.name2=SMCR7L;refseq.positionType=CDS;refseq.proteinCoordStr=p.T104P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-13;refseq.start=38237965;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 38238365 . C T 305.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=4.65;MQ=98.85;MQ0=0;OQ=3064.67;QD=15.96;RankSumP=0.0821015;SB=-1264.70;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.505C>T;refseq.codonCoord=169;refseq.end=38238365;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1003;refseq.name=NM_019008;refseq.name2=SMCR7L;refseq.positionType=CDS;refseq.proteinCoordStr=p.R169W;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-81;refseq.start=38238365;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 0/1 chr22 38613373 . A G 306.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=301;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=98.92;MQ0=0;OQ=5960.35;QD=19.80;RankSumP=0.398779;SB=-1478.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.326T>C;refseq.codonCoord=109;refseq.end=38613373;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=577;refseq.name=NM_152512;refseq.name2=ENTHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I109T;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-24;refseq.start=38613373;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr22 39144582 . C T 179.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=97.79;MQ0=0;OQ=341.34;QD=18.96;RankSumP=0.750000;SB=-105.59;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1806G>A;refseq.codonCoord=602;refseq.end=39144582;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2398;refseq.name=NM_020831;refseq.name2=MKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A602A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-259;refseq.start=39144582;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 39145029 . C G 18.45 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=98.13;MQ0=0;QD=0.92;RankSumP=0.384615;SB=-23.35;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1359G>C;refseq.codonCoord=453;refseq.end=39145029;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1951;refseq.name=NM_020831;refseq.name2=MKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V453V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=306;refseq.start=39145029;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=FilteredInAll GT 1/0 chr22 39155661 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.196C>T;refseq.codonCoord=66;refseq.end=39155661;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=788;refseq.name=NM_020831;refseq.name2=MKL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L66L;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=57;refseq.start=39155661;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr22 39405489 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=99.00;MQ0=0;OQ=413.65;QD=12.93;RankSumP=0.371889;SB=-105.83;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.94A>G;refseq.codonCoord=32;refseq.end=39405489;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_005297;refseq.name2=MCHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N32D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-196;refseq.start=39405489;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr22 39405641 . C T 302.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=284;Dels=0.00;HRun=0;HaplotypeScore=13.84;MQ=98.71;MQ0=0;OQ=4919.25;QD=17.32;RankSumP=0.0351912;SB=-1830.42;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.246C>T;refseq.codonCoord=82;refseq.end=39405641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=514;refseq.name=NM_005297;refseq.name2=MCHR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N82N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-44;refseq.start=39405641;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 0/1 chr22 39863663 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1683A>C;refseq.codonCoord=561;refseq.end=39863663;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2078;refseq.name=NM_001429;refseq.name2=EP300;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q561H;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=61;refseq.start=39863663;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT 0/1 chr22 39877954 . A G 168.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=947.41;QD=16.33;RankSumP=0.463128;SB=-245.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2989A>G;refseq.codonCoord=997;refseq.end=39877954;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3384;refseq.name=NM_001429;refseq.name2=EP300;refseq.positionType=CDS;refseq.proteinCoordStr=p.I997V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=39877954;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr22 39880985 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=728;Dels=0.00;HRun=0;HaplotypeScore=24.60;MQ=98.52;MQ0=0;OQ=14275.85;QD=19.61;RankSumP=0.191767;SB=-3383.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3183T>A;refseq.codonCoord=1061;refseq.end=39880985;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3578;refseq.name=NM_001429;refseq.name2=EP300;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1061T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=41;refseq.start=39880985;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr22 39903214 . T C 27 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=5.55121e-08;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.5553T>C;refseq.codonCoord=1851;refseq.end=39903214;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5948;refseq.name=NM_001429;refseq.name2=EP300;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1851T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=492;refseq.start=39903214;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chr22 39904423 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.6762T>G;refseq.codonCoord=2254;refseq.end=39904423;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7157;refseq.name=NM_001429;refseq.name2=EP300;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2254G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-1605;refseq.start=39904423;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 39939970 . G A 327.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=98.92;MQ0=0;OQ=4892.46;QD=19.65;RankSumP=0.0244795;SB=-2006.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.390G>A;refseq.codonCoord=130;refseq.end=39939970;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=444;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R130R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=39939970;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chr22 39943134 . C T 360.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=259;Dels=0.00;HRun=0;HaplotypeScore=6.66;MQ=97.74;MQ0=0;OQ=4925.67;QD=19.02;RankSumP=0.383780;SB=-1482.82;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.582C>T;refseq.codonCoord=194;refseq.end=39943134;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=636;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P194P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-19;refseq.start=39943134;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chr22 39945465 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.697G>C;refseq.codonCoord=233;refseq.end=39945465;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=751;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A233P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-22;refseq.start=39945465;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 39946725 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=8.38373e-08;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.760G>C;refseq.codonCoord=254;refseq.end=39946725;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A254P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=42;refseq.start=39946725;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 39946782 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.817T>G;refseq.codonCoord=273;refseq.end=39946782;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=871;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C273G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-37;refseq.start=39946782;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chr22 39947200 . T G 28 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=3;RankSumP=0.00216450;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.905T>G;refseq.codonCoord=302;refseq.end=39947200;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=959;refseq.name=NM_031488;refseq.name2=L3MBTL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V302G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-38;refseq.start=39947200;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 39975703 . C G 68 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=98.64;MQ0=0;OQ=4664.85;QD=50.16;RankSumP=1.00000;SB=-1511.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1548G>C;refseq.codonCoord=516;refseq.end=39975703;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1813;refseq.name=NM_002883;refseq.name2=RANGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L516L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-25;refseq.start=39975703;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr22 39982679 . G A 264.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=97.98;MQ0=0;OQ=2058.18;QD=16.33;RankSumP=0.0569689;SB=-695.73;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.870C>T;refseq.codonCoord=290;refseq.end=39982679;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1135;refseq.name=NM_002883;refseq.name2=RANGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G290G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-19;refseq.start=39982679;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/0 chr22 39982749 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.800A>G;refseq.codonCoord=267;refseq.end=39982749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1065;refseq.name=NM_002883;refseq.name2=RANGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.E267G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=26;refseq.start=39982749;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chr22 39982752 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=129;Dels=0.00;HRun=2;HaplotypeScore=19.11;MQ=96.18;MQ0=0;OQ=70.54;QD=0.55;RankSumP=0.00000;SB=128.43;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.797T>G;refseq.codonCoord=266;refseq.end=39982752;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1062;refseq.name=NM_002883;refseq.name2=RANGAP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V266G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=23;refseq.start=39982752;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 40055999 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=363;Dels=0.00;HRun=1;HaplotypeScore=20.73;MQ=98.41;MQ0=0;OQ=7051.29;QD=19.43;RankSumP=0.412867;SB=-2893.56;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.471G>A;refseq.codonCoord=157;refseq.end=40055999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_017590;refseq.name2=ZC3H7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q157Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=27;refseq.start=40055999;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chr22 40082693 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=98.64;MQ0=0;OQ=800.31;QD=14.04;RankSumP=0.665766;SB=-262.57;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2616G>A;refseq.codonCoord=872;refseq.end=40082693;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2832;refseq.name=NM_017590;refseq.name2=ZC3H7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.T872T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-66;refseq.start=40082693;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chr22 40113605 . C T 245.36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.93;MQ0=0;OQ=1387.71;QD=16.33;RankSumP=0.0778384;SB=-464.44;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.372C>T;refseq.codingCoordStr_2=c.462C>T;refseq.codonCoord_1=124;refseq.codonCoord_2=154;refseq.end_1=40113605;refseq.end_2=40113605;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=517;refseq.mrnaCoord_2=548;refseq.name2_1=TEF;refseq.name2_2=TEF;refseq.name_1=NM_001145398;refseq.name_2=NM_003216;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T124T;refseq.proteinCoordStr_2=p.T154T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-14;refseq.spliceDist_2=-14;refseq.start_1=40113605;refseq.start_2=40113605;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chr22 40163062 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=38.80;MQ=98.66;MQ0=0;OQ=6423.66;QD=17.55;RankSumP=0.127444;SB=-2419.26;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.234G>A;refseq.codonCoord=78;refseq.end=40163062;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_016272;refseq.name2=TOB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A78A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=296;refseq.start=40163062;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 40233759 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=1.27;MQ=98.44;MQ0=0;OQ=1021.54;QD=10.98;RankSumP=0.460463;SB=-462.62;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.192A>C;refseq.codonCoord=64;refseq.end=40233759;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=214;refseq.name=NM_001098;refseq.name2=ACO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T64T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=19;refseq.start=40233759;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 0/1 chr22 40233934 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.367A>C;refseq.codonCoord=123;refseq.end=40233934;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001098;refseq.name2=ACO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T123P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-66;refseq.start=40233934;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 40241471 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=8.13;MQ=97.96;MQ0=0;OQ=1410.34;QD=15.00;RankSumP=0.0918351;SB=-34.55;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.670C>T;refseq.codonCoord=224;refseq.end=40241471;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_001098;refseq.name2=ACO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L224L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-15;refseq.start=40241471;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chr22 40244476 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.986A>C;refseq.codonCoord=329;refseq.end=40244476;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1008;refseq.name=NM_001098;refseq.name2=ACO2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D329A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=46;refseq.start=40244476;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chr22 40362068 . C T 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.473079;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.201C>T;refseq.codonCoord=67;refseq.end=40362068;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=271;refseq.name=NM_001469;refseq.name2=XRCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.I67I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=40362068;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=FilteredInAll GT 0/1 chr22 40362131 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.489860;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.264T>C;refseq.codonCoord=88;refseq.end=40362131;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_001469;refseq.name2=XRCC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y88Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=69;refseq.start=40362131;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=soap GT 1/0 chr22 40401067 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.203A>C;refseq.codingCoordStr_2=c.203A>C;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=40401067;refseq.end_2=40401067;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=316;refseq.mrnaCoord_2=397;refseq.name2_1=NHP2L1;refseq.name2_2=NHP2L1;refseq.name_1=NM_001003796;refseq.name_2=NM_005008;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H68P;refseq.proteinCoordStr_2=p.H68P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=79;refseq.spliceDist_2=79;refseq.start_1=40401067;refseq.start_2=40401067;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 40603943 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1631T>G;refseq.codonCoord=544;refseq.end=40603943;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1800;refseq.name=NM_004599;refseq.name2=SREBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V544G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=52;refseq.start=40603943;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chr22 40606688 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=134;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=98.78;MQ0=0;OQ=2936.50;QD=21.91;RankSumP=0.154775;SB=-1316.91;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1784G>C;refseq.codonCoord=595;refseq.end=40606688;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1953;refseq.name=NM_004599;refseq.name2=SREBF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G595A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=23;refseq.start=40606688;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 0/1 chr22 40746002 . A G 225.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=5.92;MQ=98.56;MQ0=0;OQ=3082.79;QD=15.11;RankSumP=0.417042;SB=-1303.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.362A>G;refseq.codonCoord=121;refseq.end=40746002;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=456;refseq.name=NM_152613;refseq.name2=WBP2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.D121G;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-45;refseq.start=40746002;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr22 40753056 . G C 219.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=98.46;MQ0=0;OQ=3723.35;QD=42.80;RankSumP=1.00000;SB=-646.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.855G>C;refseq.codonCoord=285;refseq.end=40753056;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_152613;refseq.name2=WBP2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q285H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=341;refseq.start=40753056;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chr22 40793760 . C T 434.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.56;MQ0=0;OQ=6190.15;QD=37.07;RankSumP=1.00000;SB=-2515.52;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.279G>A;refseq.codonCoord=93;refseq.end=40793760;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=824;refseq.name=NM_000262;refseq.name2=NAGA;refseq.positionType=CDS;refseq.proteinCoordStr=p.P93P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-46;refseq.start=40793760;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr22 40803549 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.15;MQ0=0;OQ=1154.34;QD=14.43;RankSumP=0.406894;SB=-532.13;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=40803549;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_001002034;refseq.name2=FAM109B;refseq.positionType=CDS;refseq.proteinCoordStr=p.A102A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=320;refseq.start=40803549;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chr22 40852557 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=91.65;MQ0=0;OQ=1805.90;QD=23.15;RankSumP=0.0336594;SB=-662.19;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1457C>G;refseq.codingCoordStr_2=c.1304C>G;refseq.codonCoord_1=486;refseq.codonCoord_2=435;refseq.end_1=40852557;refseq.end_2=40852557;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1547;refseq.mrnaCoord_2=1394;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T486S;refseq.proteinCoordStr_2=p.T435S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-113;refseq.spliceDist_2=-113;refseq.start_1=40852557;refseq.start_2=40852557;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr22 40853472 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=9.80;MQ=42.96;MQ0=93;OQ=4805.05;QD=12.55;RankSumP=0.00132814;SB=-1483.99;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1094G>A;refseq.codingCoordStr_2=c.941G>A;refseq.codonCoord_1=365;refseq.codonCoord_2=314;refseq.end_1=40853472;refseq.end_2=40853472;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1184;refseq.mrnaCoord_2=1031;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R365H;refseq.proteinCoordStr_2=p.R314H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=40853472;refseq.start_2=40853472;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=filterInsoap-gatk GT 0/1 chr22 40853580 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=59.28;MQ0=46;OQ=273.44;QD=1.18;RankSumP=0.0272812;SB=125.45;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.986G>T;refseq.codingCoordStr_2=c.833G>T;refseq.codonCoord_1=329;refseq.codonCoord_2=278;refseq.end_1=40853580;refseq.end_2=40853580;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1076;refseq.mrnaCoord_2=923;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R329L;refseq.proteinCoordStr_2=p.R278L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=40853580;refseq.start_2=40853580;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=soap-filterIngatk GT 1/0 chr22 40853887 . A G 298.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=88.28;MQ0=2;OQ=3915.03;QD=35.92;RankSumP=1.00000;SB=-1094.04;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.886T>C;refseq.codingCoordStr_2=c.733T>C;refseq.codonCoord_1=296;refseq.codonCoord_2=245;refseq.end_1=40853887;refseq.end_2=40853887;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=976;refseq.mrnaCoord_2=823;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C296R;refseq.proteinCoordStr_2=p.C245R;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.spliceDist_1=43;refseq.spliceDist_2=43;refseq.start_1=40853887;refseq.start_2=40853887;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chr22 40854739 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=5.81;MQ=82.51;MQ0=10;OQ=330.01;QD=2.89;RankSumP=0.451876;SB=-143.75;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.657T>C;refseq.codingCoordStr_2=c.504T>C;refseq.codonCoord_1=219;refseq.codonCoord_2=168;refseq.end_1=40854739;refseq.end_2=40854739;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=747;refseq.mrnaCoord_2=594;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F219F;refseq.proteinCoordStr_2=p.F168F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=40854739;refseq.start_2=40854739;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=Intersection GT 0/1 chr22 40855742 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=20;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=7.14;MQ=91.94;MQ0=0;OQ=535.66;QD=11.90;RankSumP=0.209806;SB=-3.98;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.294C>G;refseq.codingCoordStr_2=c.294C>G;refseq.codonCoord_1=98;refseq.codonCoord_2=98;refseq.end_1=40855742;refseq.end_2=40855742;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=384;refseq.mrnaCoord_2=384;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T98T;refseq.proteinCoordStr_2=p.T98T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-59;refseq.spliceDist_2=-59;refseq.start_1=40855742;refseq.start_2=40855742;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chr22 40855755 . T C 18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=88.62;MQ0=0;OQ=180.61;QD=5.83;RankSumP=0.647508;SB=-0.97;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.281A>G;refseq.codingCoordStr_2=c.281A>G;refseq.codonCoord_1=94;refseq.codonCoord_2=94;refseq.end_1=40855755;refseq.end_2=40855755;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=371;refseq.mrnaCoord_2=371;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H94R;refseq.proteinCoordStr_2=p.H94R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.start_1=40855755;refseq.start_2=40855755;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=filterInsoap-gatk GT 1/0 chr22 40855765 rs28371703 G T 0.30 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=9.53;MQ=80.60;MQ0=3;OQ=94.95;QD=2.88;SB=-0.97;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.271C>A;refseq.codingCoordStr_2=c.271C>A;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=40855765;refseq.end_2=40855765;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=361;refseq.mrnaCoord_2=361;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L91M;refseq.proteinCoordStr_2=p.L91M;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-82;refseq.spliceDist_2=-82;refseq.start_1=40855765;refseq.start_2=40855765;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Met;refseq.variantAA_2=Met;refseq.variantCodon_1=ATG;refseq.variantCodon_2=ATG;set=gatk GT:AD:DP:GL:GQ 0/1:23,6:15:-17.30,-4.52,-39.70:99 chr22 40856638 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=15.06;MQ=92.45;MQ0=0;OQ=1841.54;QD=16.01;RankSumP=0.195008;SB=-155.59;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.100C>T;refseq.codingCoordStr_2=c.100C>T;refseq.codonCoord_1=34;refseq.codonCoord_2=34;refseq.end_1=40856638;refseq.end_2=40856638;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=190;refseq.mrnaCoord_2=190;refseq.name2_1=CYP2D6;refseq.name2_2=CYP2D6;refseq.name_1=NM_000106;refseq.name_2=NM_001025161;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P34S;refseq.proteinCoordStr_2=p.P34S;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=-81;refseq.spliceDist_2=-81;refseq.start_1=40856638;refseq.start_2=40856638;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/0 chr22 40936404 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.4852A>C;refseq.codingCoordStr_2=c.4852A>C;refseq.codonCoord_1=1618;refseq.codonCoord_2=1618;refseq.end_1=40936404;refseq.end_2=40936404;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4986;refseq.mrnaCoord_2=4986;refseq.name2_1=TCF20;refseq.name2_2=TCF20;refseq.name_1=NM_005650;refseq.name_2=NM_181492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1618P;refseq.proteinCoordStr_2=p.T1618P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-804;refseq.spliceDist_2=-804;refseq.start_1=40936404;refseq.start_2=40936404;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 40939092 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=800;Dels=0.00;HRun=1;HaplotypeScore=15.52;MQ=98.81;MQ0=0;OQ=15273.50;QD=19.09;RankSumP=0.0693770;SB=-6122.20;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2164A>G;refseq.codingCoordStr_2=c.2164A>G;refseq.codonCoord_1=722;refseq.codonCoord_2=722;refseq.end_1=40939092;refseq.end_2=40939092;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2298;refseq.mrnaCoord_2=2298;refseq.name2_1=TCF20;refseq.name2_2=TCF20;refseq.name_1=NM_005650;refseq.name_2=NM_181492;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S722G;refseq.proteinCoordStr_2=p.S722G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=2298;refseq.spliceDist_2=2298;refseq.start_1=40939092;refseq.start_2=40939092;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chr22 41113014 . G A 189.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=98.66;MQ0=0;OQ=1586.53;QD=17.06;RankSumP=0.207547;SB=-709.38;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.678C>T;refseq.codonCoord=226;refseq.end=41113014;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=716;refseq.name=NM_145912;refseq.name2=NFAM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R226R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=15;refseq.start=41113014;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr22 41123817 . A G 115.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=101;Dels=0.00;HRun=1;HaplotypeScore=6.43;MQ=98.52;MQ0=0;OQ=1581.88;QD=15.66;RankSumP=0.0708574;SB=-446.02;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.654T>C;refseq.codonCoord=218;refseq.end=41123817;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=692;refseq.name=NM_145912;refseq.name2=NFAM1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S218S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=41123817;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 0/1 chr22 41234999 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=33.04;MQ0=35;OQ=236.50;QD=1.57;RankSumP=0.670878;SB=95.32;SecondBestBaseQ=33;refseq.chr=chr22;refseq.end=41234999;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=647;refseq.name=NR_027786;refseq.name2=SERHL;refseq.positionType=non_coding_exon;refseq.spliceDist=22;refseq.start=41234999;refseq.transcriptStrand=+;set=soap-filterIngatk GT 1/0 chr22 41240713 . G A 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=6.46;MQ=20.81;MQ0=65;OQ=1223.95;QD=8.74;RankSumP=0.500000;SB=-346.85;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.477C>T;refseq.codonCoord=159;refseq.end=41240713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=493;refseq.name=NM_015703;refseq.name2=RRP7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y159Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=17;refseq.start=41240713;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chr22 41242041 . C T 217.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=96.36;MQ0=0;OQ=2151.85;QD=14.35;RankSumP=0.400824;SB=-799.33;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.262G>A;refseq.codonCoord=88;refseq.end=41242041;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=278;refseq.name=NM_015703;refseq.name2=RRP7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V88I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=46;refseq.start=41242041;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chr22 41362686 . C T 119.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=98.02;MQ0=0;OQ=686.18;QD=13.20;RankSumP=0.513168;SB=-253.50;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.132G>A;refseq.codingCoordStr_2=c.63G>A;refseq.codingCoordStr_3=c.231G>A;refseq.codingCoordStr_4=c.63G>A;refseq.codingCoordStr_5=c.63G>A;refseq.codonCoord_1=44;refseq.codonCoord_2=21;refseq.codonCoord_3=77;refseq.codonCoord_4=21;refseq.codonCoord_5=21;refseq.end_1=41362686;refseq.end_2=41362686;refseq.end_3=41362686;refseq.end_4=41362686;refseq.end_5=41362686;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=216;refseq.mrnaCoord_2=460;refseq.mrnaCoord_3=356;refseq.mrnaCoord_4=276;refseq.mrnaCoord_5=215;refseq.name2_1=CYB5R3;refseq.name2_2=CYB5R3;refseq.name2_3=CYB5R3;refseq.name2_4=CYB5R3;refseq.name2_5=CYB5R3;refseq.name_1=NM_000398;refseq.name_2=NM_001129819;refseq.name_3=NM_001171660;refseq.name_4=NM_001171661;refseq.name_5=NM_007326;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P44P;refseq.proteinCoordStr_2=p.P21P;refseq.proteinCoordStr_3=p.P77P;refseq.proteinCoordStr_4=p.P21P;refseq.proteinCoordStr_5=p.P21P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.referenceCodon_3=CCG;refseq.referenceCodon_4=CCG;refseq.referenceCodon_5=CCG;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.spliceDist_5=-22;refseq.start_1=41362686;refseq.start_2=41362686;refseq.start_3=41362686;refseq.start_4=41362686;refseq.start_5=41362686;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;refseq.variantCodon_3=CCA;refseq.variantCodon_4=CCA;refseq.variantCodon_5=CCA;set=Intersection GT 0/1 chr22 41418915 . C T 180.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=98.60;MQ0=0;OQ=2022.05;QD=15.44;RankSumP=0.133104;SB=-946.46;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.987G>A;refseq.codonCoord=329;refseq.end=41418915;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1248;refseq.name=NM_017436;refseq.name2=A4GALT;refseq.positionType=CDS;refseq.proteinCoordStr=p.T329T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-845;refseq.start=41418915;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chr22 41418999 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=99.00;MQ0=0;OQ=814.39;QD=21.43;RankSumP=0.737943;SB=-330.62;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.903C>G;refseq.codonCoord=301;refseq.end=41418999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1164;refseq.name=NM_017436;refseq.name2=A4GALT;refseq.positionType=CDS;refseq.proteinCoordStr=p.P301P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-929;refseq.start=41418999;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr22 41419793 . T C 138.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=98.07;MQ0=0;OQ=1055.99;QD=13.89;RankSumP=0.393503;SB=-195.53;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.109A>G;refseq.codonCoord=37;refseq.end=41419793;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_017436;refseq.name2=A4GALT;refseq.positionType=CDS;refseq.proteinCoordStr=p.M37V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=155;refseq.start=41419793;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr22 41525091 . A G 351.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=235;Dels=0.00;HRun=0;HaplotypeScore=8.92;MQ=98.68;MQ0=0;OQ=4148.57;QD=17.65;RankSumP=0.144897;SB=-1690.56;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1299T>C;refseq.codingCoordStr_2=c.1431T>C;refseq.codonCoord_1=433;refseq.codonCoord_2=477;refseq.end_1=41525091;refseq.end_2=41525091;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1519;refseq.mrnaCoord_2=1651;refseq.name2_1=ARFGAP3;refseq.name2_2=ARFGAP3;refseq.name_1=NM_001142293;refseq.name_2=NM_014570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S433S;refseq.proteinCoordStr_2=p.S477S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=41525091;refseq.start_2=41525091;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chr22 41533081 . C T 125.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=98.93;MQ0=0;OQ=2067.84;QD=12.61;RankSumP=0.0231642;SB=-626.02;SecondBestBaseQ=29;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1221G>A;refseq.codingCoordStr_2=c.1353G>A;refseq.codonCoord_1=407;refseq.codonCoord_2=451;refseq.end_1=41533081;refseq.end_2=41533081;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1441;refseq.mrnaCoord_2=1573;refseq.name2_1=ARFGAP3;refseq.name2_2=ARFGAP3;refseq.name_1=NM_001142293;refseq.name_2=NM_014570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S407S;refseq.proteinCoordStr_2=p.S451S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=41533081;refseq.start_2=41533081;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr22 41536894 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=4.93;MQ=98.88;MQ0=0;OQ=889.70;QD=9.37;RankSumP=0.366403;SB=-7.00;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.933T>G;refseq.codingCoordStr_2=c.1065T>G;refseq.codonCoord_1=311;refseq.codonCoord_2=355;refseq.end_1=41536894;refseq.end_2=41536894;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1153;refseq.mrnaCoord_2=1285;refseq.name2_1=ARFGAP3;refseq.name2_2=ARFGAP3;refseq.name_1=NM_001142293;refseq.name_2=NM_014570;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S311R;refseq.proteinCoordStr_2=p.S355R;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.start_1=41536894;refseq.start_2=41536894;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=Intersection GT 0/1 chr22 41597349 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=354;Dels=0.00;HRun=1;HaplotypeScore=10.00;MQ=98.20;MQ0=0;OQ=6382.17;QD=18.03;RankSumP=0.00921698;SB=-1905.91;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1419A>G;refseq.codonCoord=473;refseq.end=41597349;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1641;refseq.name=NM_007229;refseq.name2=PACSIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q473Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=71;refseq.start=41597349;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/0 chr22 41608164 . C T 325.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=288;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.42;MQ0=0;OQ=4720.15;QD=16.39;RankSumP=0.00140072;SB=-1822.53;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.876G>A;refseq.codonCoord=292;refseq.end=41608164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1098;refseq.name=NM_007229;refseq.name2=PACSIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P292P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-31;refseq.start=41608164;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 0/1 chr22 41610334 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr=chr22;refseq.codingCoordStr=c.785+2;refseq.end=41610334;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_007229;refseq.name2=PACSIN2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=41610334;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chr22 41619417 . G A 186.46 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=98.78;MQ0=0;OQ=1781.79;QD=17.82;RankSumP=0.482941;SB=-749.77;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.207C>T;refseq.codonCoord=69;refseq.end=41619417;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=429;refseq.name=NM_007229;refseq.name2=PACSIN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L69L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-11;refseq.start=41619417;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chr22 41777835 . C T 302.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=542;Dels=0.00;HRun=0;HaplotypeScore=12.11;MQ=98.80;MQ0=0;OQ=9839.62;QD=18.15;RankSumP=0.0993807;SB=-3127.34;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.894G>A;refseq.codonCoord_2=298;refseq.end_1=41777835;refseq.end_2=41777835;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1239;refseq.mrnaCoord_2=1135;refseq.name2_1=TTLL1;refseq.name2_2=TTLL1;refseq.name_1=NR_027779;refseq.name_2=NM_012263;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.P298P;refseq.referenceAA_2=Pro;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=3;refseq.spliceDist_2=3;refseq.spliceInfo_1=splice-acceptor_3;refseq.spliceInfo_2=splice-acceptor_3;refseq.start_1=41777835;refseq.start_2=41777835;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chr22 41801527 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=612;Dels=0.00;HRun=3;HaplotypeScore=74.69;MQ=97.05;MQ0=0;OQ=1508.21;QD=2.46;RankSumP=0.00000;SB=525.80;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.10A>G;refseq.codonCoord_2=4;refseq.end_1=41801527;refseq.end_2=41801527;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=251;refseq.mrnaCoord_2=251;refseq.name2_1=TTLL1;refseq.name2_2=TTLL1;refseq.name_1=NR_027779;refseq.name_2=NM_012263;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.K4E;refseq.referenceAA_2=Lys;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=14;refseq.spliceDist_2=14;refseq.start_1=41801527;refseq.start_2=41801527;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Glu;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chr22 41859258 . G C 268.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=224;Dels=0.00;HRun=1;HaplotypeScore=6.34;MQ=98.69;MQ0=0;OQ=3899.67;QD=17.41;RankSumP=0.211203;SB=-1569.06;SecondBestBaseQ=29;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.*147C>G;refseq.codingCoordStr_2=c.908C>G;refseq.codonCoord_2=303;refseq.end_1=41859258;refseq.end_2=41859258;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=739;refseq.mrnaCoord_2=957;refseq.name2_1=MCAT;refseq.name2_2=MCAT;refseq.name_1=NM_014507;refseq.name_2=NM_173467;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A303G;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=179;refseq.spliceDist_2=179;refseq.start_1=41859258;refseq.start_2=41859258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=Intersection GT 0/1 chr22 41869064 . G C 3 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=26;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=97.96;MQ0=0;OQ=118.10;QD=4.54;RankSumP=0.0927873;SB=-36.43;SecondBestBaseQ=18;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.235C>G;refseq.codingCoordStr_2=c.235C>G;refseq.codonCoord_1=79;refseq.codonCoord_2=79;refseq.end_1=41869064;refseq.end_2=41869064;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=284;refseq.mrnaCoord_2=284;refseq.name2_1=MCAT;refseq.name2_2=MCAT;refseq.name_1=NM_014507;refseq.name_2=NM_173467;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R79G;refseq.proteinCoordStr_2=p.R79G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-189;refseq.spliceDist_2=-189;refseq.start_1=41869064;refseq.start_2=41869064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chr22 41888870 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=97.40;MQ0=0;OQ=394.35;QD=11.60;RankSumP=0.698936;SB=-211.56;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.439A>G;refseq.codingCoordStr_2=c.158A>G;refseq.codonCoord_1=147;refseq.codonCoord_2=53;refseq.end_1=41888870;refseq.end_2=41888870;refseq.frame_1=0;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=544;refseq.mrnaCoord_2=333;refseq.name2_1=TSPO;refseq.name2_2=TSPO;refseq.name_1=NM_000714;refseq.name_2=NM_007311;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T147A;refseq.proteinCoordStr_2=p.H53R;refseq.referenceAA_1=Thr;refseq.referenceAA_2=His;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=41888870;refseq.start_2=41888870;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Arg;refseq.variantCodon_1=GCG;refseq.variantCodon_2=CGC;set=Intersection GT 0/1 chr22 41902298 . C T 105.01 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=97.81;MQ0=0;OQ=603.83;QD=15.10;RankSumP=0.110267;SB=-304.83;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.889G>A;refseq.codonCoord=297;refseq.end=41902298;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=921;refseq.name=NM_015140;refseq.name2=TTLL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V297M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-29;refseq.start=41902298;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chr22 41906824 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=97.91;MQ0=0;OQ=526.34;QD=12.24;RankSumP=0.0609134;SB=-246.94;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.414G>T;refseq.codonCoord=138;refseq.end=41906824;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=446;refseq.name=NM_015140;refseq.name2=TTLL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V138V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=67;refseq.start=41906824;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr22 41906848 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=96.43;MQ0=0;OQ=529.90;QD=12.32;RankSumP=0.534051;SB=-191.87;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.390C>T;refseq.codonCoord=130;refseq.end=41906848;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_015140;refseq.name2=TTLL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.H130H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=43;refseq.start=41906848;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr22 41908993 . T C 190.52 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=97.89;MQ0=0;OQ=887.66;QD=16.44;RankSumP=0.743139;SB=-300.55;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.284A>G;refseq.codonCoord=95;refseq.end=41908993;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=316;refseq.name=NM_015140;refseq.name2=TTLL12;refseq.positionType=CDS;refseq.proteinCoordStr=p.N95S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-64;refseq.start=41908993;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr22 41936087 . C T 119.20 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.06;MQ0=0;OQ=1041.98;QD=17.08;RankSumP=0.199991;SB=-388.52;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2487G>A;refseq.codonCoord=829;refseq.end=41936087;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2575;refseq.name=NM_173050;refseq.name2=SCUBE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A829A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-95;refseq.start=41936087;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 41940050 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=12.31;MQ=97.94;MQ0=0;OQ=1451.67;QD=13.57;RankSumP=0.408452;SB=-351.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2043G>A;refseq.codonCoord=681;refseq.end=41940050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2131;refseq.name=NM_173050;refseq.name2=SCUBE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S681S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-11;refseq.start=41940050;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 0/1 chr22 41940151 . A G 333.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=2.56;MQ=98.50;MQ0=0;OQ=5559.12;QD=37.82;RankSumP=1.00000;SB=-2494.69;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1942T>C;refseq.codonCoord=648;refseq.end=41940151;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2030;refseq.name=NM_173050;refseq.name2=SCUBE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S648P;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=51;refseq.start=41940151;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 1/1 chr22 41949144 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=99.00;MQ0=0;OQ=832.46;QD=12.81;RankSumP=0.0806642;SB=-320.78;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1230C>T;refseq.codonCoord=410;refseq.end=41949144;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1318;refseq.name=NM_173050;refseq.name2=SCUBE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R410R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=23;refseq.start=41949144;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chr22 41953339 . C G 131.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=96.10;MQ0=0;OQ=1196.83;QD=33.25;RankSumP=1.00000;SB=-404.19;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1192G>C;refseq.codonCoord=398;refseq.end=41953339;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1280;refseq.name=NM_173050;refseq.name2=SCUBE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G398R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-16;refseq.start=41953339;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr22 42267552 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=204;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=98.56;MQ0=0;OQ=4769.42;QD=23.38;RankSumP=0.160097;SB=-1642.62;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3667G>A;refseq.codingCoordStr_2=c.3211G>A;refseq.codonCoord_1=1223;refseq.codonCoord_2=1071;refseq.end_1=42267552;refseq.end_2=42267552;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3882;refseq.mrnaCoord_2=3524;refseq.name2_1=EFCAB6;refseq.name2_2=EFCAB6;refseq.name_1=NM_022785;refseq.name_2=NM_198856;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1223K;refseq.proteinCoordStr_2=p.E1071K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=42267552;refseq.start_2=42267552;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=Intersection GT 0/1 chr22 42307729 . G A 264.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=4.71;MQ=98.78;MQ0=0;OQ=4413.37;QD=20.53;RankSumP=0.410366;SB=-1657.88;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.3176C>T;refseq.codingCoordStr_2=c.2720C>T;refseq.codonCoord_1=1059;refseq.codonCoord_2=907;refseq.end_1=42307729;refseq.end_2=42307729;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3391;refseq.mrnaCoord_2=3033;refseq.name2_1=EFCAB6;refseq.name2_2=EFCAB6;refseq.name_1=NM_022785;refseq.name_2=NM_198856;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1059V;refseq.proteinCoordStr_2=p.A907V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.start_1=42307729;refseq.start_2=42307729;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=Intersection GT 1/0 chr22 42359385 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.2165A>C;refseq.codingCoordStr_2=c.1709A>C;refseq.codonCoord_1=722;refseq.codonCoord_2=570;refseq.end_1=42359385;refseq.end_2=42359385;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2380;refseq.mrnaCoord_2=2022;refseq.name2_1=EFCAB6;refseq.name2_2=EFCAB6;refseq.name_1=NM_022785;refseq.name_2=NM_198856;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N722T;refseq.proteinCoordStr_2=p.N570T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=67;refseq.spliceDist_2=67;refseq.start_1=42359385;refseq.start_2=42359385;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chr22 42411013 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=687;Dels=0.00;HRun=0;HaplotypeScore=17.22;MQ=98.86;MQ0=0;OQ=14074.53;QD=20.49;RankSumP=0.433735;SB=-5667.34;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1198C>T;refseq.codingCoordStr_2=c.742C>T;refseq.codonCoord_1=400;refseq.codonCoord_2=248;refseq.end_1=42411013;refseq.end_2=42411013;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1413;refseq.mrnaCoord_2=1055;refseq.name2_1=EFCAB6;refseq.name2_2=EFCAB6;refseq.name_1=NM_022785;refseq.name_2=NM_198856;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H400Y;refseq.proteinCoordStr_2=p.H248Y;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-54;refseq.spliceDist_2=-54;refseq.start_1=42411013;refseq.start_2=42411013;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;set=Intersection GT 1/0 chr22 42444178 . C T 297.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=157;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=98.81;MQ0=0;OQ=2577.82;QD=16.42;RankSumP=0.404329;SB=-912.83;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.765G>A;refseq.codingCoordStr_2=c.309G>A;refseq.codonCoord_1=255;refseq.codonCoord_2=103;refseq.end_1=42444178;refseq.end_2=42444178;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=980;refseq.mrnaCoord_2=622;refseq.name2_1=EFCAB6;refseq.name2_2=EFCAB6;refseq.name_1=NM_022785;refseq.name_2=NM_198856;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S255S;refseq.proteinCoordStr_2=p.S103S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=42444178;refseq.start_2=42444178;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 0/1 chr22 42613609 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=234;Dels=0.00;HRun=1;HaplotypeScore=15.21;MQ=98.69;MQ0=0;OQ=2848.91;QD=12.17;RankSumP=0.143855;SB=-1378.86;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.856T>C;refseq.codonCoord=286;refseq.end=42613609;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=953;refseq.name=NM_138814;refseq.name2=PNPLA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.W286R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=93;refseq.start=42613609;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr22 42613640 . G A 349.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=246;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=98.78;MQ0=0;OQ=4270.35;QD=17.36;RankSumP=0.0740396;SB=-1594.07;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.825C>T;refseq.codonCoord=275;refseq.end=42613640;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_138814;refseq.name2=PNPLA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D275D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=62;refseq.start=42613640;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chr22 42618395 . A G 191.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=98.42;MQ0=0;OQ=3566.80;QD=30.49;RankSumP=1.00000;SB=-1266.13;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.306T>C;refseq.codonCoord=102;refseq.end=42618395;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=403;refseq.name=NM_138814;refseq.name2=PNPLA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D102D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=113;refseq.start=42618395;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chr22 42654255 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=1;HaplotypeScore=9.10;MQ=98.62;MQ0=0;OQ=2564.28;QD=12.04;RankSumP=0.168628;SB=-885.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.295T>G;refseq.codonCoord=99;refseq.end=42654255;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=468;refseq.name=NM_025225;refseq.name2=PNPLA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C99G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=108;refseq.start=42654255;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chr22 42654303 . G T 154.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=8.76;MQ=98.79;MQ0=0;OQ=2744.25;QD=12.76;RankSumP=0.109566;SB=-1374.35;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.343G>T;refseq.codonCoord=115;refseq.end=42654303;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_025225;refseq.name2=PNPLA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.G115C;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-78;refseq.start=42654303;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 0/1 chr22 42673449 . A G 116.85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=98.32;MQ0=0;OQ=1065.08;QD=13.48;RankSumP=0.489636;SB=-372.96;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1300A>G;refseq.codonCoord=434;refseq.end=42673449;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1473;refseq.name=NM_025225;refseq.name2=PNPLA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K434E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=83;refseq.start=42673449;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 0/1 chr22 42699537 . A G 149.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=324;Dels=0.00;HRun=2;HaplotypeScore=7.95;MQ=98.93;MQ0=0;OQ=6306.37;QD=19.46;RankSumP=0.332503;SB=-1699.30;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.411A>G;refseq.codonCoord=137;refseq.end=42699537;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=608;refseq.name=NM_015380;refseq.name2=SAMM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.G137G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-19;refseq.start=42699537;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 0/1 chr22 42703965 . C T 247.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=98.35;MQ0=0;OQ=2828.77;QD=20.21;RankSumP=0.414226;SB=-910.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.780C>T;refseq.codonCoord=260;refseq.end=42703965;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=977;refseq.name=NM_015380;refseq.name2=SAMM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.H260H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=42703965;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chr22 42711155 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=939;Dels=0.00;HRun=0;HaplotypeScore=30.31;MQ=98.60;MQ0=0;OQ=13496.72;QD=14.37;RankSumP=0.0883150;SB=-3119.70;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1017T>C;refseq.codonCoord=339;refseq.end=42711155;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1214;refseq.name=NM_015380;refseq.name2=SAMM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.L339L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=42711155;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/0 chr22 42711171 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=1027;Dels=0.00;HRun=0;HaplotypeScore=27.47;MQ=98.64;MQ0=0;OQ=14199.53;QD=13.83;RankSumP=0.265065;SB=-4783.90;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1033A>G;refseq.codonCoord=345;refseq.end=42711171;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_015380;refseq.name2=SAMM50;refseq.positionType=CDS;refseq.proteinCoordStr=p.I345V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=26;refseq.start=42711171;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chr22 42821201 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=97.53;MQ0=0;OQ=1297.25;QD=12.24;RankSumP=0.0987405;SB=-509.90;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.272T>C;refseq.codingCoordStr_2=c.173T>C;refseq.codonCoord_1=91;refseq.codonCoord_2=58;refseq.end_1=42821201;refseq.end_2=42821201;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=320;refseq.mrnaCoord_2=225;refseq.name2_1=PARVB;refseq.name2_2=PARVB;refseq.name_1=NM_001003828;refseq.name_2=NM_013327;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V91A;refseq.proteinCoordStr_2=p.V58A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=42821201;refseq.start_2=42821201;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;set=Intersection GT 1/0 chr22 42821229 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=97.87;MQ0=0;OQ=712.61;QD=10.48;RankSumP=0.183541;SB=-105.98;SecondBestBaseQ=30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.300T>C;refseq.codingCoordStr_2=c.201T>C;refseq.codonCoord_1=100;refseq.codonCoord_2=67;refseq.end_1=42821229;refseq.end_2=42821229;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=348;refseq.mrnaCoord_2=253;refseq.name2_1=PARVB;refseq.name2_2=PARVB;refseq.name_1=NM_001003828;refseq.name_2=NM_013327;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L100L;refseq.proteinCoordStr_2=p.L67L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTT;refseq.referenceCodon_2=CTT;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.start_1=42821229;refseq.start_2=42821229;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;set=Intersection GT 1/0 chr22 42916336 . C G 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=2;RankSumP=0.0808703;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.257C>G;refseq.codingCoordStr_2=c.257C>G;refseq.codingCoordStr_3=c.257C>G;refseq.codonCoord_1=86;refseq.codonCoord_2=86;refseq.codonCoord_3=86;refseq.end_1=42916336;refseq.end_2=42916336;refseq.end_3=42916336;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=681;refseq.mrnaCoord_2=500;refseq.mrnaCoord_3=741;refseq.name2_1=PARVG;refseq.name2_2=PARVG;refseq.name2_3=PARVG;refseq.name_1=NM_001137605;refseq.name_2=NM_001137606;refseq.name_3=NM_022141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A86G;refseq.proteinCoordStr_2=p.A86G;refseq.proteinCoordStr_3=p.A86G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=42916336;refseq.start_2=42916336;refseq.start_3=42916336;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chr22 42917855 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=350;Dels=0.00;HRun=1;HaplotypeScore=13.57;MQ=98.36;MQ0=0;OQ=6587.19;QD=18.82;RankSumP=0.209979;SB=-1329.74;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.480C>T;refseq.codingCoordStr_2=c.480C>T;refseq.codingCoordStr_3=c.480C>T;refseq.codonCoord_1=160;refseq.codonCoord_2=160;refseq.codonCoord_3=160;refseq.end_1=42917855;refseq.end_2=42917855;refseq.end_3=42917855;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=904;refseq.mrnaCoord_2=723;refseq.mrnaCoord_3=964;refseq.name2_1=PARVG;refseq.name2_2=PARVG;refseq.name2_3=PARVG;refseq.name_1=NM_001137605;refseq.name_2=NM_001137606;refseq.name_3=NM_022141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V160V;refseq.proteinCoordStr_2=p.V160V;refseq.proteinCoordStr_3=p.V160V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.spliceDist_3=-25;refseq.start_1=42917855;refseq.start_2=42917855;refseq.start_3=42917855;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 0/1 chr22 42925917 . C G 250.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=388;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=98.80;MQ0=0;OQ=7204.73;QD=18.57;RankSumP=0.487629;SB=-1976.72;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.795C>G;refseq.codingCoordStr_2=c.795C>G;refseq.codingCoordStr_3=c.795C>G;refseq.codonCoord_1=265;refseq.codonCoord_2=265;refseq.codonCoord_3=265;refseq.end_1=42925917;refseq.end_2=42925917;refseq.end_3=42925917;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1219;refseq.mrnaCoord_2=1038;refseq.mrnaCoord_3=1279;refseq.name2_1=PARVG;refseq.name2_2=PARVG;refseq.name2_3=PARVG;refseq.name_1=NM_001137605;refseq.name_2=NM_001137606;refseq.name_3=NM_022141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P265P;refseq.proteinCoordStr_2=p.P265P;refseq.proteinCoordStr_3=p.P265P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.spliceDist_1=-19;refseq.spliceDist_2=-19;refseq.spliceDist_3=-19;refseq.start_1=42925917;refseq.start_2=42925917;refseq.start_3=42925917;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chr22 42933562 . A C 279.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.89;MQ0=0;OQ=5561.40;QD=36.59;RankSumP=1.00000;SB=-2001.24;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.919A>C;refseq.codingCoordStr_2=c.919A>C;refseq.codingCoordStr_3=c.919A>C;refseq.codonCoord_1=307;refseq.codonCoord_2=307;refseq.codonCoord_3=307;refseq.end_1=42933562;refseq.end_2=42933562;refseq.end_3=42933562;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1343;refseq.mrnaCoord_2=1162;refseq.mrnaCoord_3=1403;refseq.name2_1=PARVG;refseq.name2_2=PARVG;refseq.name2_3=PARVG;refseq.name_1=NM_001137605;refseq.name_2=NM_001137606;refseq.name_3=NM_022141;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R307R;refseq.proteinCoordStr_2=p.R307R;refseq.proteinCoordStr_3=p.R307R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.referenceCodon_3=AGG;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.start_1=42933562;refseq.start_2=42933562;refseq.start_3=42933562;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;set=Intersection GT 1/1 chr22 43012945 . A G 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.62;MQ0=0;OQ=3679.58;QD=41.81;RankSumP=1.00000;SB=-1293.89;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.295T>C;refseq.codonCoord=99;refseq.end=43012945;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_001099294;refseq.name2=KIAA1644;refseq.positionType=CDS;refseq.proteinCoordStr=p.L99L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=14;refseq.start=43012945;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr22 43506896 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=99.00;MQ0=0;OQ=356.81;QD=10.19;RankSumP=0.733138;SB=-73.31;SecondBestBaseQ=28;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.codingCoordStr_2=c.489T>C;refseq.codingCoordStr_3=c.231T>C;refseq.codingCoordStr_4=c.231T>C;refseq.codingCoordStr_5=c.489T>C;refseq.codingCoordStr_6=c.516T>C;refseq.codonCoord_2=163;refseq.codonCoord_3=77;refseq.codonCoord_4=77;refseq.codonCoord_5=163;refseq.codonCoord_6=172;refseq.end_1=43560990;refseq.end_2=43506896;refseq.end_3=43506896;refseq.end_4=43506896;refseq.end_5=43506896;refseq.end_6=43506896;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_2=592;refseq.mrnaCoord_3=475;refseq.mrnaCoord_4=815;refseq.mrnaCoord_5=932;refseq.mrnaCoord_6=788;refseq.name2_1=PRR5-ARHGAP8;refseq.name2_2=PRR5;refseq.name2_3=PRR5;refseq.name2_4=PRR5;refseq.name2_5=PRR5;refseq.name2_6=PRR5;refseq.name_1=NM_181334;refseq.name_2=NM_001017528;refseq.name_3=NM_001017529;refseq.name_4=NM_001017530;refseq.name_5=NM_015366;refseq.name_6=NM_181333;refseq.numMatchingRecords=6;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_2=p.R163R;refseq.proteinCoordStr_3=p.R77R;refseq.proteinCoordStr_4=p.R77R;refseq.proteinCoordStr_5=p.R163R;refseq.proteinCoordStr_6=p.R172R;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.referenceCodon_4=CGT;refseq.referenceCodon_5=CGT;refseq.referenceCodon_6=CGT;refseq.spliceDist_2=-40;refseq.spliceDist_3=-40;refseq.spliceDist_4=-40;refseq.spliceDist_5=-40;refseq.spliceDist_6=-40;refseq.start_1=43501189;refseq.start_2=43506896;refseq.start_3=43506896;refseq.start_4=43506896;refseq.start_5=43506896;refseq.start_6=43506896;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantAA_5=Arg;refseq.variantAA_6=Arg;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;refseq.variantCodon_5=CGC;refseq.variantCodon_6=CGC;set=Intersection GT 1/0 chr22 43600087 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=6.19;MQ=98.43;MQ0=0;OQ=480.80;QD=7.07;RankSumP=0.412793;SB=-176.12;SecondBestBaseQ=27;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.639A>T;refseq.codingCoordStr_2=c.912A>T;refseq.codingCoordStr_3=c.546A>T;refseq.codonCoord_1=213;refseq.codonCoord_2=304;refseq.codonCoord_3=182;refseq.end_1=43600087;refseq.end_2=43600087;refseq.end_3=43600087;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=780;refseq.mrnaCoord_2=912;refseq.mrnaCoord_3=687;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P213P;refseq.proteinCoordStr_2=p.P304P;refseq.proteinCoordStr_3=p.P182P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.spliceDist_3=-51;refseq.start_1=43600087;refseq.start_2=43600087;refseq.start_3=43600087;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;set=Intersection GT 0/1 chr22 43634294 rs61756769 T C 29.57 PASS AC=1;AF=0.50;AN=2;DB;DP=221;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=94.17;MQ0=0;OQ=2485.23;QD=11.25;SB=-624.30;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.990T>C;refseq.codingCoordStr_2=c.1263T>C;refseq.codingCoordStr_3=c.897T>C;refseq.codonCoord_1=330;refseq.codonCoord_2=421;refseq.codonCoord_3=299;refseq.end_1=43634294;refseq.end_2=43634294;refseq.end_3=43634294;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1131;refseq.mrnaCoord_2=1263;refseq.mrnaCoord_3=1038;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R330R;refseq.proteinCoordStr_2=p.R421R;refseq.proteinCoordStr_3=p.R299R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.referenceCodon_3=CGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.spliceDist_3=20;refseq.start_1=43634294;refseq.start_2=43634294;refseq.start_3=43634294;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=gatk GT:AD:DP:GL:GQ 0/1:128,93:194:-310.24,-58.43,-466.76:99 chr22 43634301 . G C 291.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=227;Dels=0.00;HRun=0;HaplotypeScore=11.28;MQ=94.00;MQ0=0;OQ=4003.71;QD=17.64;RankSumP=6.41706e-05;SB=-1046.76;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.997G>C;refseq.codingCoordStr_2=c.1270G>C;refseq.codingCoordStr_3=c.904G>C;refseq.codonCoord_1=333;refseq.codonCoord_2=424;refseq.codonCoord_3=302;refseq.end_1=43634301;refseq.end_2=43634301;refseq.end_3=43634301;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1138;refseq.mrnaCoord_2=1270;refseq.mrnaCoord_3=1045;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G333R;refseq.proteinCoordStr_2=p.G424R;refseq.proteinCoordStr_3=p.G302R;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=27;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.start_1=43634301;refseq.start_2=43634301;refseq.start_3=43634301;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;set=filterInsoap-gatk GT 0/1 chr22 43634308 . G T 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=247;Dels=0.00;HRun=0;HaplotypeScore=17.44;MQ=94.02;MQ0=0;OQ=3984.77;QD=16.13;RankSumP=0.367328;SB=-1232.19;SecondBestBaseQ=22;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1004G>T;refseq.codingCoordStr_2=c.1277G>T;refseq.codingCoordStr_3=c.911G>T;refseq.codonCoord_1=335;refseq.codonCoord_2=426;refseq.codonCoord_3=304;refseq.end_1=43634308;refseq.end_2=43634308;refseq.end_3=43634308;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1145;refseq.mrnaCoord_2=1277;refseq.mrnaCoord_3=1052;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R335L;refseq.proteinCoordStr_2=p.R426L;refseq.proteinCoordStr_3=p.R304L;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=43634308;refseq.start_2=43634308;refseq.start_3=43634308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTC;refseq.variantCodon_2=CTC;refseq.variantCodon_3=CTC;set=Intersection GT 0/1 chr22 43634352 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=192;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=94.87;MQ0=0;OQ=2287.22;QD=11.91;RankSumP=0.132208;SB=-565.35;SecondBestBaseQ=29;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1048C>T;refseq.codingCoordStr_2=c.1321C>T;refseq.codingCoordStr_3=c.955C>T;refseq.codonCoord_1=350;refseq.codonCoord_2=441;refseq.codonCoord_3=319;refseq.end_1=43634352;refseq.end_2=43634352;refseq.end_3=43634352;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1189;refseq.mrnaCoord_2=1321;refseq.mrnaCoord_3=1096;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.R350C;refseq.proteinCoordStr_2=p.R441C;refseq.proteinCoordStr_3=p.R319C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=43634352;refseq.start_2=43634352;refseq.start_3=43634352;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantAA_3=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;refseq.variantCodon_3=TGC;set=Intersection GT 0/1 chr22 43636997 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=150;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=98.16;MQ0=0;OQ=4132.11;QD=27.55;RankSumP=0.455292;SB=-1689.10;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1253C>G;refseq.codingCoordStr_2=c.1526C>G;refseq.codingCoordStr_3=c.1160C>G;refseq.codonCoord_1=418;refseq.codonCoord_2=509;refseq.codonCoord_3=387;refseq.end_1=43636997;refseq.end_2=43636997;refseq.end_3=43636997;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1394;refseq.mrnaCoord_2=1526;refseq.mrnaCoord_3=1301;refseq.name2_1=ARHGAP8;refseq.name2_2=PRR5-ARHGAP8;refseq.name2_3=ARHGAP8;refseq.name_1=NM_001017526;refseq.name_2=NM_181334;refseq.name_3=NM_181335;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P418R;refseq.proteinCoordStr_2=p.P509R;refseq.proteinCoordStr_3=p.P387R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=179;refseq.spliceDist_2=179;refseq.spliceDist_3=179;refseq.start_1=43636997;refseq.start_2=43636997;refseq.start_3=43636997;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGT;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/0 chr22 43657667 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=98.48;MQ0=0;OQ=715.90;QD=9.18;RankSumP=0.00186663;SB=-211.22;SecondBestBaseQ=21;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1433C>T;refseq.codingCoordStr_2=c.1559C>T;refseq.codonCoord_1=478;refseq.codonCoord_2=520;refseq.end_1=43657667;refseq.end_2=43657667;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1539;refseq.mrnaCoord_2=1710;refseq.name2_1=PHF21B;refseq.name2_2=PHF21B;refseq.name_1=NM_001135862;refseq.name_2=NM_138415;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T478I;refseq.proteinCoordStr_2=p.T520I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=182;refseq.spliceDist_2=182;refseq.start_1=43657667;refseq.start_2=43657667;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=filterInsoap-gatk GT 1/0 chr22 44061910 . C T 141.03 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=110;Dels=0.00;HRun=1;HaplotypeScore=4.44;MQ=98.19;MQ0=0;OQ=3425.29;QD=31.14;RankSumP=1.00000;SB=-1471.40;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.402C>T;refseq.codonCoord_2=134;refseq.end_1=44067715;refseq.end_2=44061910;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=429;refseq.name2_1=UPK3A;refseq.name2_2=UPK3A;refseq.name_1=NM_001167574;refseq.name_2=NM_006953;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.V134V;refseq.referenceAA_2=Val;refseq.referenceCodon_2=GTC;refseq.spliceDist_2=-87;refseq.start_1=44060652;refseq.start_2=44061910;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTT;set=Intersection GT 1/1 chr22 44061968 . G C 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=98.29;MQ0=0;OQ=1162.00;QD=30.58;RankSumP=1.00000;SB=-447.22;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_2=c.460G>C;refseq.codonCoord_2=154;refseq.end_1=44067715;refseq.end_2=44061968;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=487;refseq.name2_1=UPK3A;refseq.name2_2=UPK3A;refseq.name_1=NM_001167574;refseq.name_2=NM_006953;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A154P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-29;refseq.start_1=44060652;refseq.start_2=44061968;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=Intersection GT 1/1 chr22 44146033 . A G 317.81 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.64;MQ0=0;OQ=4994.07;QD=41.62;RankSumP=1.00000;SB=-2105.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2295T>C;refseq.codonCoord=765;refseq.end=44146033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2347;refseq.name=NM_148674;refseq.name2=SMC1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F765F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-19;refseq.start=44146033;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 44146119 . A G 426.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.94;MQ0=0;OQ=4467.78;QD=42.15;RankSumP=1.00000;SB=-1918.35;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2209T>C;refseq.codonCoord=737;refseq.end=44146119;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2261;refseq.name=NM_148674;refseq.name2=SMC1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L737L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=13;refseq.start=44146119;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chr22 44168306 . A C 299.94 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=98.93;MQ0=0;OQ=5692.14;QD=39.81;RankSumP=1.00000;SB=-1412.36;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1417T>G;refseq.codonCoord=473;refseq.end=44168306;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1469;refseq.name=NM_148674;refseq.name2=SMC1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.F473V;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=80;refseq.start=44168306;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chr22 44200551 . G A 409.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.58;MQ0=0;OQ=7312.92;QD=40.85;RankSumP=1.00000;SB=-3278.15;SecondBestBaseQ=0;set=Intersection GT 1/1 chr22 44200620 . C G 85 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=100;Dels=0.00;HRun=3;HaplotypeScore=9.40;MQ=98.16;MQ0=0;OQ=4324.26;QD=43.24;RankSumP=1.00000;SB=-1564.51;SecondBestBaseQ=0;set=Intersection GT 1/1 chr22 44205544 . G A 148.18 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.60;MQ=98.40;MQ0=0;OQ=420.25;QD=22.12;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=2;set=filterInsoap-gatk GT 1/1 chr22 44302491 . A G 30.49 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=270;Dels=0.00;HRun=2;HaplotypeScore=4.54;MQ=98.68;MQ0=0;OQ=9734.13;QD=36.05;RankSumP=1.00000;SB=-4796.91;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.422A>G;refseq.codingCoordStr_2=c.422A>G;refseq.codingCoordStr_3=c.422A>G;refseq.codingCoordStr_4=c.422A>G;refseq.codonCoord_1=141;refseq.codonCoord_2=141;refseq.codonCoord_3=141;refseq.codonCoord_4=141;refseq.end_1=44302491;refseq.end_2=44302491;refseq.end_3=44302491;refseq.end_4=44302491;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=569;refseq.mrnaCoord_2=569;refseq.mrnaCoord_3=569;refseq.mrnaCoord_4=569;refseq.name2_1=FBLN1;refseq.name2_2=FBLN1;refseq.name2_3=FBLN1;refseq.name2_4=FBLN1;refseq.name_1=NM_001996;refseq.name_2=NM_006485;refseq.name_3=NM_006486;refseq.name_4=NM_006487;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.Q141R;refseq.proteinCoordStr_2=p.Q141R;refseq.proteinCoordStr_3=p.Q141R;refseq.proteinCoordStr_4=p.Q141R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceAA_4=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.referenceCodon_3=CAG;refseq.referenceCodon_4=CAG;refseq.spliceDist_1=-63;refseq.spliceDist_2=-63;refseq.spliceDist_3=-63;refseq.spliceDist_4=-63;refseq.start_1=44302491;refseq.start_2=44302491;refseq.start_3=44302491;refseq.start_4=44302491;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;refseq.variantCodon_3=CGG;refseq.variantCodon_4=CGG;set=Intersection GT 1/1 chr22 44315813 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=439;Dels=0.00;HRun=1;HaplotypeScore=16.71;MQ=98.60;MQ0=0;OQ=8832.43;QD=20.12;RankSumP=0.0267003;SB=-3746.18;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.963C>T;refseq.codingCoordStr_2=c.963C>T;refseq.codingCoordStr_3=c.963C>T;refseq.codingCoordStr_4=c.963C>T;refseq.codonCoord_1=321;refseq.codonCoord_2=321;refseq.codonCoord_3=321;refseq.codonCoord_4=321;refseq.end_1=44315813;refseq.end_2=44315813;refseq.end_3=44315813;refseq.end_4=44315813;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1110;refseq.mrnaCoord_2=1110;refseq.mrnaCoord_3=1110;refseq.mrnaCoord_4=1110;refseq.name2_1=FBLN1;refseq.name2_2=FBLN1;refseq.name2_3=FBLN1;refseq.name2_4=FBLN1;refseq.name_1=NM_001996;refseq.name_2=NM_006485;refseq.name_3=NM_006486;refseq.name_4=NM_006487;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I321I;refseq.proteinCoordStr_2=p.I321I;refseq.proteinCoordStr_3=p.I321I;refseq.proteinCoordStr_4=p.I321I;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATC;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.spliceDist_1=41;refseq.spliceDist_2=41;refseq.spliceDist_3=41;refseq.spliceDist_4=41;refseq.start_1=44315813;refseq.start_2=44315813;refseq.start_3=44315813;refseq.start_4=44315813;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;refseq.variantCodon_3=ATT;refseq.variantCodon_4=ATT;set=Intersection GT 0/1 chr22 45006783 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1142C>G;refseq.codingCoordStr_2=c.1142C>G;refseq.codonCoord_1=381;refseq.codonCoord_2=381;refseq.end_1=45006783;refseq.end_2=45006783;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1324;refseq.mrnaCoord_2=1408;refseq.name2_1=PPARA;refseq.name2_2=PPARA;refseq.name_1=NM_001001928;refseq.name_2=NM_005036;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A381G;refseq.proteinCoordStr_2=p.A381G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=45006783;refseq.start_2=45006783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 1/0 chr22 45021687 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=134;Dels=0.00;HRun=2;HaplotypeScore=27.28;MQ=97.83;MQ0=0;OQ=930.38;QD=6.94;RankSumP=0.0375484;SB=-21.96;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.209T>G;refseq.codonCoord=70;refseq.end=45021687;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=250;refseq.name=NM_207327;refseq.name2=C22orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.L70R;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-17;refseq.start=45021687;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=soap-filterIngatk GT 0/1 chr22 45022832 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=98.53;MQ0=0;OQ=1664.02;QD=14.86;RankSumP=0.230825;SB=-365.33;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.14T>C;refseq.codonCoord=5;refseq.end=45022832;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=55;refseq.name=NM_207327;refseq.name2=C22orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.V5A;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=14;refseq.start=45022832;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chr22 45022841 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.44;MQ0=0;OQ=1319.24;QD=14.03;RankSumP=0.136073;SB=-257.49;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.5C>T;refseq.codonCoord=2;refseq.end=45022841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=46;refseq.name=NM_207327;refseq.name2=C22orf40;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2V;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=5;refseq.spliceInfo=splice-acceptor_5;refseq.start=45022841;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chr22 45031401 . G A 266.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=98.99;MQ0=0;OQ=4105.81;QD=18.83;RankSumP=0.396730;SB=-1674.24;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.6483C>T;refseq.codonCoord=2161;refseq.end=45031401;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6483;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.C2161C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-1178;refseq.start=45031401;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 45031593 . G A 134.05 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=98.84;MQ0=0;OQ=1460.38;QD=15.87;RankSumP=0.0604610;SB=-604.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.6291C>T;refseq.codonCoord=2097;refseq.end=45031593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6291;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.S2097S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-1370;refseq.start=45031593;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chr22 45031623 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=82;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=98.43;MQ0=0;OQ=936.64;QD=11.42;RankSumP=0.128508;SB=-480.57;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.6261T>C;refseq.codonCoord=2087;refseq.end=45031623;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=6261;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.P2087P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-1400;refseq.start=45031623;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr22 45032987 . G A 238.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=170;Dels=0.00;HRun=1;HaplotypeScore=2.57;MQ=98.63;MQ0=0;OQ=3037.35;QD=17.87;RankSumP=0.164996;SB=-1112.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.4897C>T;refseq.codonCoord=1633;refseq.end=45032987;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4897;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1633L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-2764;refseq.start=45032987;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chr22 45034589 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=204;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=98.94;MQ0=0;OQ=3936.11;QD=19.29;RankSumP=0.108076;SB=-603.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3295A>G;refseq.codonCoord=1099;refseq.end=45034589;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3295;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1099V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=3295;refseq.start=45034589;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr22 45034612 . T C 233.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=98.91;MQ0=0;OQ=2463.26;QD=17.72;RankSumP=0.340635;SB=-490.31;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3272A>G;refseq.codonCoord=1091;refseq.end=45034612;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3272;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1091S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=3272;refseq.start=45034612;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr22 45034910 . T G 118.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=383;Dels=0.00;HRun=1;HaplotypeScore=11.10;MQ=98.98;MQ0=0;OQ=8212.48;QD=21.44;RankSumP=0.00460117;SB=-2508.09;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2974A>C;refseq.codonCoord=992;refseq.end=45034910;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2974;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.T992P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=2974;refseq.start=45034910;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=filterInsoap-gatk GT 1/0 chr22 45035143 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=157;Dels=0.00;HRun=2;HaplotypeScore=1.60;MQ=99.00;MQ0=0;OQ=2657.10;QD=16.92;RankSumP=0.0458471;SB=-815.84;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2741T>C;refseq.codonCoord=914;refseq.end=45035143;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2741;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.L914P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=2741;refseq.start=45035143;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr22 45035175 . A G 221.58 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.96;MQ0=0;OQ=4828.20;QD=21.65;RankSumP=0.195300;SB=-1688.44;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2709T>C;refseq.codonCoord=903;refseq.end=45035175;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2709;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I903I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=2709;refseq.start=45035175;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chr22 45035271 . G A 210.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=1;HaplotypeScore=6.15;MQ=99.00;MQ0=0;OQ=2346.65;QD=18.48;RankSumP=0.391185;SB=-989.11;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2613C>T;refseq.codonCoord=871;refseq.end=45035271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2613;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I871I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=2613;refseq.start=45035271;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr22 45035469 . G A 230.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=99.00;MQ0=0;OQ=2700.74;QD=17.54;RankSumP=0.375294;SB=-1125.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2415C>T;refseq.codonCoord=805;refseq.end=45035469;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2415;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.I805I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=2415;refseq.start=45035469;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chr22 45035925 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=17.79;MQ=97.72;MQ0=0;OQ=1222.29;QD=11.98;RankSumP=0.470863;SB=-330.60;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1959T>C;refseq.codonCoord=653;refseq.end=45035925;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1959;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.D653D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1959;refseq.start=45035925;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr22 45035949 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1935G>T;refseq.codonCoord=645;refseq.end=45035949;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1935;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.L645F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=1935;refseq.start=45035949;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chr22 45036462 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=98.84;MQ0=0;OQ=900.91;QD=10.85;RankSumP=0.129305;SB=-211.62;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1422T>C;refseq.codonCoord=474;refseq.end=45036462;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1422;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.D474D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=1422;refseq.start=45036462;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chr22 45037102 . A C 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=2;RankSumP=0.0670697;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.782T>G;refseq.codonCoord=261;refseq.end=45037102;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=782;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.V261G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=782;refseq.start=45037102;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=soap GT 0/1 chr22 45037383 . G A 47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.53;MQ0=0;OQ=108.32;QD=18.05;RankSumP=0.400000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.501C>T;refseq.codonCoord=167;refseq.end=45037383;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=501;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.A167A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=501;refseq.start=45037383;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr22 45037389 . G C 34 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.23;MQ0=0;OQ=140.80;QD=28.16;RankSumP=0.800000;SB=-10.00;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.495C>G;refseq.codonCoord=165;refseq.end=45037389;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=495;refseq.name=NM_006071;refseq.name2=PKDREJ;refseq.positionType=CDS;refseq.proteinCoordStr=p.R165R;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=495;refseq.start=45037389;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr22 45043095 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=12.30;MQ=98.45;MQ0=0;OQ=2909.44;QD=14.47;RankSumP=0.448083;SB=-479.63;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.54C>G;refseq.codonCoord=18;refseq.end=45043095;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=130;refseq.name=NM_017931;refseq.name2=TTC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.L18L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=21;refseq.start=45043095;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chr22 45048569 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.304A>C;refseq.codonCoord=102;refseq.end=45048569;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=380;refseq.name=NM_017931;refseq.name2=TTC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.T102P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-62;refseq.start=45048569;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chr22 45056271 . T C 70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=423;Dels=0.00;HRun=2;HaplotypeScore=11.03;MQ=98.81;MQ0=0;OQ=17847.77;QD=42.19;RankSumP=1.00000;SB=-6206.83;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.727T>C;refseq.codonCoord=243;refseq.end=45056271;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=803;refseq.name=NM_017931;refseq.name2=TTC38;refseq.positionType=CDS;refseq.proteinCoordStr=p.F243L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=45056271;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chr22 45101064 . T C 236.47 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=166;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.74;MQ0=0;OQ=5199.60;QD=31.32;RankSumP=1.00000;SB=-2233.22;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1573T>C;refseq.codonCoord=525;refseq.end=45101064;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1785;refseq.name=NM_016426;refseq.name2=GTSE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W525R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=68;refseq.start=45101064;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chr22 45141024 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=229.90;QD=16.42;RankSumP=0.0734266;SB=-140.61;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.8223C>T;refseq.codonCoord=2741;refseq.end=45141024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=8223;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N2741N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=18;refseq.start=45141024;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chr22 45151788 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=137;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=98.83;MQ0=0;OQ=1843.34;QD=13.46;RankSumP=0.259697;SB=-486.51;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.7418A>G;refseq.codonCoord=2473;refseq.end=45151788;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=7418;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y2473C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=35;refseq.start=45151788;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 45168775 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=3;RankSumP=9.88563e-07;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.5892A>C;refseq.codonCoord=1964;refseq.end=45168775;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5892;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1964G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=49;refseq.start=45168775;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chr22 45168795 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=5;RankSumP=1.35364e-08;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.5872T>G;refseq.codonCoord=1958;refseq.end=45168795;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5872;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W1958G;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=29;refseq.start=45168795;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 45308356 . A G 242.43 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=175;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=98.58;MQ0=0;OQ=6182.76;QD=35.33;RankSumP=1.00000;SB=-2588.19;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3376T>C;refseq.codonCoord=1126;refseq.end=45308356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3376;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1126R;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-169;refseq.start=45308356;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chr22 45309741 . G C 54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=97.61;MQ0=0;OQ=1611.42;QD=32.23;RankSumP=1.00000;SB=-583.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1991C>G;refseq.codonCoord=664;refseq.end=45309741;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1991;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S664W;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-1554;refseq.start=45309741;refseq.transcriptStrand=-;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=Intersection GT 1/1 chr22 45310457 . G C 238.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=98.41;MQ0=0;OQ=1358.55;QD=42.45;RankSumP=1.00000;SB=-650.55;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1275C>G;refseq.codonCoord=425;refseq.end=45310457;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1275;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L425L;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=1275;refseq.start=45310457;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr22 45310502 . G A 347.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.91;MQ0=0;OQ=2276.79;QD=36.14;RankSumP=1.00000;SB=-704.95;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1230C>T;refseq.codonCoord=410;refseq.end=45310502;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_014246;refseq.name2=CELSR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S410S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1230;refseq.start=45310502;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/1 chr22 45437656 . T C 211.40 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=98.66;MQ0=0;OQ=2423.71;QD=30.68;RankSumP=1.00000;SB=-1126.12;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.522T>C;refseq.codonCoord=174;refseq.end=45437656;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=561;refseq.name=NM_015124;refseq.name2=GRAMD4;refseq.positionType=CDS;refseq.proteinCoordStr=p.F174F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=56;refseq.start=45437656;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 45495569 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=699;Dels=0.00;HRun=1;HaplotypeScore=17.96;MQ=98.76;MQ0=0;OQ=12944.17;QD=18.52;RankSumP=0.132158;SB=-3455.55;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.150C>T;refseq.codonCoord=50;refseq.end=45495569;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=257;refseq.name=NM_022766;refseq.name2=CERK;refseq.positionType=CDS;refseq.proteinCoordStr=p.C50C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=45495569;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 45665855 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.738A>C;refseq.codonCoord=246;refseq.end=45665855;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_014346;refseq.name2=TBC1D22A;refseq.positionType=CDS;refseq.proteinCoordStr=p.R246S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=30;refseq.start=45665855;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 0/1 chr22 45665956 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chr22;refseq.codingCoordStr=c.837+2;refseq.end=45665956;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_014346;refseq.name2=TBC1D22A;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=45665956;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chr22 48602608 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.175612;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1362G>A;refseq.codonCoord=454;refseq.end=48602608;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1849;refseq.name=NM_014577;refseq.name2=BRD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P454P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=48602608;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chr22 48663839 . T C 325.81 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=98.87;MQ0=0;OQ=4073.64;QD=17.41;RankSumP=0.141793;SB=-1570.81;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.525T>C;refseq.codonCoord=175;refseq.end=48663839;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=995;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S175S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=854;refseq.start=48663839;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chr22 48663887 . A G 344.13 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=10.97;MQ=98.61;MQ0=0;OQ=4344.10;QD=18.25;RankSumP=0.269279;SB=-1714.11;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.573A>G;refseq.codonCoord=191;refseq.end=48663887;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1043;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P191P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=902;refseq.start=48663887;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr22 48664442 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=10.69;MQ=98.07;MQ0=0;OQ=1892.96;QD=11.91;RankSumP=0.427924;SB=-877.10;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1128A>G;refseq.codonCoord=376;refseq.end=48664442;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1598;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.P376P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1457;refseq.start=48664442;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chr22 48664572 . A G 115.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=192;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=98.74;MQ0=0;OQ=2318.52;QD=12.08;RankSumP=0.275823;SB=-706.21;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1258A>G;refseq.codonCoord=420;refseq.end=48664572;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1728;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I420V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=1587;refseq.start=48664572;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 0/1 chr22 48664646 . C T 167.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=149;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=98.92;MQ0=0;OQ=2108.12;QD=14.15;RankSumP=0.134335;SB=-1041.03;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1332C>T;refseq.codonCoord=444;refseq.end=48664646;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1802;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G444G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=1661;refseq.start=48664646;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chr22 48665323 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2009T>C;refseq.codonCoord=670;refseq.end=48665323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2479;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L670P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=2338;refseq.start=48665323;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 48666140 . T C 127.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=305;Dels=0.00;HRun=1;HaplotypeScore=10.49;MQ=98.57;MQ0=0;OQ=4488.54;QD=14.72;RankSumP=0.497944;SB=-1298.38;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2826T>C;refseq.codonCoord=942;refseq.end=48666140;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3296;refseq.name=NM_014838;refseq.name2=ZBED4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A942A;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=3155;refseq.start=48666140;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/0 chr22 48683892 . T C 199.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=223;Dels=0.00;HRun=0;HaplotypeScore=4.93;MQ=98.52;MQ0=0;OQ=2987.90;QD=13.40;RankSumP=0.0897545;SB=-1188.48;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1177A>G;refseq.codonCoord=393;refseq.end=48683892;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1451;refseq.name=NM_024105;refseq.name2=ALG12;refseq.positionType=CDS;refseq.proteinCoordStr=p.I393V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=15;refseq.start=48683892;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chr22 48687480 . T C 166.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=98.96;MQ0=0;OQ=1120.05;QD=14.93;RankSumP=0.181710;SB=-207.64;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.885A>G;refseq.codonCoord=295;refseq.end=48687480;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1159;refseq.name=NM_024105;refseq.name2=ALG12;refseq.positionType=CDS;refseq.proteinCoordStr=p.A295A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-108;refseq.start=48687480;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr22 48693360 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=1;RankSumP=0.0774826;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.58G>T;refseq.codonCoord=20;refseq.end=48693360;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=332;refseq.name=NM_024105;refseq.name2=ALG12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V20L;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-105;refseq.start=48693360;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=FilteredInAll GT 1/0 chr22 48699442 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=5.26;MQ=98.66;MQ0=0;OQ=962.45;QD=12.66;RankSumP=0.0677779;SB=-471.24;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.273T>C;refseq.codingCoordStr_2=c.273T>C;refseq.codonCoord_1=91;refseq.codonCoord_2=91;refseq.end_1=48699442;refseq.end_2=48699442;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=408;refseq.mrnaCoord_2=408;refseq.name2_1=CRELD2;refseq.name2_2=CRELD2;refseq.name_1=NM_001135101;refseq.name_2=NM_024324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N91N;refseq.proteinCoordStr_2=p.N91N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=48699442;refseq.start_2=48699442;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/0 chr22 48705083 . T G 209.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.93;MQ0=0;OQ=2083.15;QD=16.80;RankSumP=0.304979;SB=-1054.50;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1030T>G;refseq.codingCoordStr_2=c.883T>G;refseq.codonCoord_1=344;refseq.codonCoord_2=295;refseq.end_1=48705083;refseq.end_2=48705083;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1165;refseq.mrnaCoord_2=1018;refseq.name2_1=CRELD2;refseq.name2_2=CRELD2;refseq.name_1=NM_001135101;refseq.name_2=NM_024324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S344A;refseq.proteinCoordStr_2=p.S295A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=48705083;refseq.start_2=48705083;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=Intersection GT 1/0 chr22 48705174 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=246;Dels=0.00;HRun=1;HaplotypeScore=15.74;MQ=98.59;MQ0=0;OQ=4420.10;QD=17.97;RankSumP=0.333340;SB=-1570.25;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1121A>G;refseq.codingCoordStr_2=c.974A>G;refseq.codonCoord_1=374;refseq.codonCoord_2=325;refseq.end_1=48705174;refseq.end_2=48705174;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1256;refseq.mrnaCoord_2=1109;refseq.name2_1=CRELD2;refseq.name2_2=CRELD2;refseq.name_1=NM_001135101;refseq.name_2=NM_024324;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E374G;refseq.proteinCoordStr_2=p.E325G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=-36;refseq.spliceDist_2=-36;refseq.start_1=48705174;refseq.start_2=48705174;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=Intersection GT 0/1 chr22 48705211 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.1156+2;refseq.codingCoordStr_2=c.1009+2;refseq.end_1=48705211;refseq.end_2=48705211;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=CRELD2;refseq.name2_2=CRELD2;refseq.name_1=NM_001135101;refseq.name_2=NM_024324;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=48705211;refseq.start_2=48705211;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chr22 48742697 . T C 80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=66;Dels=0.00;HRun=3;HaplotypeScore=4.79;MQ=97.41;MQ0=0;OQ=1954.27;QD=29.61;RankSumP=1.00000;SB=-309.69;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.899T>C;refseq.codonCoord=300;refseq.end=48742697;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1352;refseq.name=NM_001001852;refseq.name2=PIM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V300A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=106;refseq.start=48742697;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chr22 48781321 . C T 12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=96.69;MQ0=0;OQ=492.92;QD=27.38;RankSumP=1.00000;SB=-206.33;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.208G>A;refseq.codonCoord=70;refseq.end=48781321;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=440;refseq.name=NM_001001694;refseq.name2=IL17REL;refseq.positionType=CDS;refseq.proteinCoordStr=p.G70R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=-12;refseq.start=48781321;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=filterInsoap-gatk GT 1/1 chr22 48849001 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.882G>C;refseq.codingCoordStr_2=c.882G>C;refseq.codonCoord_1=294;refseq.codonCoord_2=294;refseq.end_1=48849001;refseq.end_2=48849001;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1516;refseq.mrnaCoord_2=1155;refseq.name2_1=MLC1;refseq.name2_2=MLC1;refseq.name_1=NM_015166;refseq.name_2=NM_139202;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P294P;refseq.proteinCoordStr_2=p.P294P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCG;refseq.referenceCodon_2=CCG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=48849001;refseq.start_2=48849001;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chr22 48889374 . A G 153.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=11.01;MQ=98.58;MQ0=0;OQ=10382.33;QD=37.75;RankSumP=1.00000;SB=-2822.69;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.717A>G;refseq.codingCoordStr_2=c.657A>G;refseq.codingCoordStr_3=c.717A>G;refseq.codonCoord_1=239;refseq.codonCoord_2=219;refseq.codonCoord_3=239;refseq.end_1=48889374;refseq.end_2=48889374;refseq.end_3=48889374;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=800;refseq.mrnaCoord_2=877;refseq.mrnaCoord_3=800;refseq.name2_1=MOV10L1;refseq.name2_2=MOV10L1;refseq.name2_3=MOV10L1;refseq.name_1=NM_001164104;refseq.name_2=NM_001164105;refseq.name_3=NM_018995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A239A;refseq.proteinCoordStr_2=p.A219A;refseq.proteinCoordStr_3=p.A239A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=-27;refseq.spliceDist_2=-27;refseq.spliceDist_3=-27;refseq.start_1=48889374;refseq.start_2=48889374;refseq.start_3=48889374;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chr22 48897746 . C T 214.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.55;MQ0=0;OQ=5998.21;QD=41.95;RankSumP=1.00000;SB=-1978.39;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1293C>T;refseq.codingCoordStr_2=c.1233C>T;refseq.codingCoordStr_3=c.1293C>T;refseq.codonCoord_1=431;refseq.codonCoord_2=411;refseq.codonCoord_3=431;refseq.end_1=48897746;refseq.end_2=48897746;refseq.end_3=48897746;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1376;refseq.mrnaCoord_2=1453;refseq.mrnaCoord_3=1376;refseq.name2_1=MOV10L1;refseq.name2_2=MOV10L1;refseq.name2_3=MOV10L1;refseq.name_1=NM_001164104;refseq.name_2=NM_001164105;refseq.name_3=NM_018995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.L431L;refseq.proteinCoordStr_2=p.L411L;refseq.proteinCoordStr_3=p.L431L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.referenceCodon_3=CTC;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.start_1=48897746;refseq.start_2=48897746;refseq.start_3=48897746;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;refseq.variantCodon_3=CTT;set=Intersection GT 1/1 chr22 48901153 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.1550T>C;refseq.codingCoordStr_2=c.1490T>C;refseq.codingCoordStr_3=c.1550T>C;refseq.codonCoord_1=517;refseq.codonCoord_2=497;refseq.codonCoord_3=517;refseq.end_1=48901153;refseq.end_2=48901153;refseq.end_3=48901153;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1633;refseq.mrnaCoord_2=1710;refseq.mrnaCoord_3=1633;refseq.name2_1=MOV10L1;refseq.name2_2=MOV10L1;refseq.name2_3=MOV10L1;refseq.name_1=NM_001164104;refseq.name_2=NM_001164105;refseq.name_3=NM_018995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F517S;refseq.proteinCoordStr_2=p.F497S;refseq.proteinCoordStr_3=p.F517S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.referenceCodon_3=TTC;refseq.spliceDist_1=-20;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.start_1=48901153;refseq.start_2=48901153;refseq.start_3=48901153;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 1/0 chr22 48922701 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_1=c.2135A>C;refseq.codingCoordStr_2=c.2075A>C;refseq.codingCoordStr_3=c.2135A>C;refseq.codonCoord_1=712;refseq.codonCoord_2=692;refseq.codonCoord_3=712;refseq.end_1=48922701;refseq.end_2=48922701;refseq.end_3=48922701;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2218;refseq.mrnaCoord_2=2295;refseq.mrnaCoord_3=2218;refseq.name2_1=MOV10L1;refseq.name2_2=MOV10L1;refseq.name2_3=MOV10L1;refseq.name_1=NM_001164104;refseq.name_2=NM_001164105;refseq.name_3=NM_018995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D712A;refseq.proteinCoordStr_2=p.D692A;refseq.proteinCoordStr_3=p.D712A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-45;refseq.spliceDist_2=-45;refseq.spliceDist_3=-45;refseq.start_1=48922701;refseq.start_2=48922701;refseq.start_3=48922701;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chr22 48930258 . C T 196.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=8.37;MQ=98.88;MQ0=0;OQ=2066.18;QD=15.77;RankSumP=0.0254238;SB=-267.29;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.2715C>T;refseq.codingCoordStr_2=c.2655C>T;refseq.codingCoordStr_3=c.96C>T;refseq.codingCoordStr_4=c.2715C>T;refseq.codonCoord_1=905;refseq.codonCoord_2=885;refseq.codonCoord_3=32;refseq.codonCoord_4=905;refseq.end_1=48930258;refseq.end_2=48930258;refseq.end_3=48930258;refseq.end_4=48930258;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2798;refseq.mrnaCoord_2=2875;refseq.mrnaCoord_3=183;refseq.mrnaCoord_4=2798;refseq.name2_1=MOV10L1;refseq.name2_2=MOV10L1;refseq.name2_3=MOV10L1;refseq.name2_4=MOV10L1;refseq.name_1=NM_001164104;refseq.name_2=NM_001164105;refseq.name_3=NM_001164106;refseq.name_4=NM_018995;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D905D;refseq.proteinCoordStr_2=p.D885D;refseq.proteinCoordStr_3=p.D32D;refseq.proteinCoordStr_4=p.D905D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.spliceDist_4=-13;refseq.start_1=48930258;refseq.start_2=48930258;refseq.start_3=48930258;refseq.start_4=48930258;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAT;refseq.variantCodon_2=GAT;refseq.variantCodon_3=GAT;refseq.variantCodon_4=GAT;set=Intersection GT 0/1 chr22 48958783 . T C 14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=6;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=191.94;QD=31.99;RankSumP=1.00000;SB=-85.92;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.codingCoordStr_2=c.1515T>C;refseq.codingCoordStr_3=c.1515T>C;refseq.codonCoord_2=505;refseq.codonCoord_3=505;refseq.end_1=48958783;refseq.end_2=48958783;refseq.end_3=48958783;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1566;refseq.mrnaCoord_2=1515;refseq.mrnaCoord_3=1515;refseq.name2_1=PANX2;refseq.name2_2=PANX2;refseq.name2_3=PANX2;refseq.name_1=NR_027691;refseq.name_2=NM_001160300;refseq.name_3=NM_052839;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.P505P;refseq.proteinCoordStr_3=p.P505P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.spliceDist_1=-176;refseq.spliceDist_2=-176;refseq.spliceDist_3=-176;refseq.start_1=48958783;refseq.start_2=48958783;refseq.start_3=48958783;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=filterInsoap-gatk GT 1/1 chr22 48991188 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1072T>G;refseq.codonCoord=358;refseq.end=48991188;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1130;refseq.name=NM_031454;refseq.name2=SELO;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y358D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=2;refseq.spliceInfo=splice-acceptor_2;refseq.start=48991188;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chr22 48991424 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.69;MQ0=0;OQ=927.71;QD=12.71;RankSumP=0.500000;SB=-357.48;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1308C>T;refseq.codonCoord=436;refseq.end=48991424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1366;refseq.name=NM_031454;refseq.name2=SELO;refseq.positionType=CDS;refseq.proteinCoordStr=p.D436D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-44;refseq.start=48991424;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chr22 48999137 . C G 249.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=3.70;MQ=98.19;MQ0=0;OQ=7525.42;QD=44.79;RankSumP=1.00000;SB=-2764.58;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4861G>C;refseq.codonCoord=1621;refseq.end=48999137;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5373;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1621L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=40;refseq.start=48999137;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chr22 49000551 . T C 256.17 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=3.97;MQ=98.61;MQ0=0;OQ=1921.04;QD=15.01;RankSumP=0.240567;SB=-919.94;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4129A>G;refseq.codonCoord=1377;refseq.end=49000551;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4641;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1377A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=21;refseq.start=49000551;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chr22 49001339 . A G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00276476;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3576T>C;refseq.codonCoord=1192;refseq.end=49001339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4088;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1192S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-533;refseq.start=49001339;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chr22 49001420 . G A 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.0372989;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3495C>T;refseq.codonCoord=1165;refseq.end=49001420;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4007;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1165S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-614;refseq.start=49001420;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT 1/0 chr22 49001698 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.3217A>C;refseq.codonCoord=1073;refseq.end=49001698;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3729;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1073P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=733;refseq.start=49001698;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 49006739 . A G 280.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=98.67;MQ0=0;OQ=8704.78;QD=38.18;RankSumP=1.00000;SB=-3240.50;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1700T>C;refseq.codonCoord=567;refseq.end=49006739;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2212;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.L567S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=49006739;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/1 chr22 49024573 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=235;Dels=0.00;HRun=0;HaplotypeScore=15.33;MQ=98.52;MQ0=0;OQ=4004.71;QD=17.04;RankSumP=0.0999213;SB=-975.04;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.443A>G;refseq.codonCoord=148;refseq.end=49024573;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=955;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y148C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-299;refseq.start=49024573;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/0 chr22 49024992 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=7.30;MQ=98.65;MQ0=0;OQ=795.07;QD=15.90;RankSumP=0.675339;SB=-173.24;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.24C>T;refseq.codonCoord=8;refseq.end=49024992;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=536;refseq.name=NM_020461;refseq.name2=TUBGCP6;refseq.positionType=CDS;refseq.proteinCoordStr=p.F8F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=536;refseq.start=49024992;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chr22 49030475 . A G 424.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.24;MQ0=0;OQ=4304.39;QD=36.17;RankSumP=1.00000;SB=-2155.53;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.codingCoordStr_1=c.435T>C;refseq.codingCoordStr_2=c.435T>C;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=49030475;refseq.end_2=49030475;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=808;refseq.mrnaCoord_2=808;refseq.name2_1=HDAC10;refseq.name2_2=HDAC10;refseq.name_1=NM_001159286;refseq.name_2=NM_032019;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C145C;refseq.proteinCoordStr_2=p.C145C;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.start_1=49030475;refseq.start_2=49030475;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chr22 49036424 . A G 157.58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=98.54;MQ0=0;OQ=2404.61;QD=33.40;RankSumP=1.00000;SB=-713.10;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.633T>C;refseq.codonCoord=211;refseq.end=49036424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=784;refseq.name=NM_002969;refseq.name2=MAPK12;refseq.positionType=CDS;refseq.proteinCoordStr=p.S211S;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=14;refseq.start=49036424;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chr22 49041795 . A G 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=15;Dels=0.00;HRun=2;HaplotypeScore=0.49;MQ=96.89;MQ0=0;OQ=200.36;QD=13.36;RankSumP=0.265152;SB=-70.88;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.183T>C;refseq.codonCoord=61;refseq.end=49041795;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=334;refseq.name=NM_002969;refseq.name2=MAPK12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P61P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=58;refseq.start=49041795;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr22 49046788 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=411.55;QD=10.83;RankSumP=0.135213;SB=-136.76;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.756A>G;refseq.codonCoord=252;refseq.end=49046788;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=814;refseq.name=NM_002751;refseq.name2=MAPK11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S252S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=-7;refseq.spliceInfo=splice-donor_-7;refseq.start=49046788;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chr22 49047593 . A G 282.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=98.47;MQ0=0;OQ=4871.26;QD=36.35;RankSumP=1.00000;SB=-794.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.507T>C;refseq.codonCoord=169;refseq.end=49047593;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=565;refseq.name=NM_002751;refseq.name2=MAPK11;refseq.positionType=CDS;refseq.proteinCoordStr=p.F169F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=12;refseq.start=49047593;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/1 chr22 49058294 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=2.03;MQ=99.00;MQ0=0;OQ=420.58;QD=15.58;RankSumP=0.400521;SB=-154.59;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.5049C>T;refseq.codonCoord=1683;refseq.end=49058294;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5124;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1683S;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=1;refseq.spliceInfo=splice-acceptor_1;refseq.start=49058294;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chr22 49061378 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=106;Dels=0.00;HRun=3;HaplotypeScore=13.77;MQ=98.58;MQ0=0;OQ=1330.24;QD=12.55;RankSumP=0.330322;SB=-466.78;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.3915T>C;refseq.codonCoord=1305;refseq.end=49061378;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3990;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1305P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-79;refseq.start=49061378;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chr22 49064261 . T C 205.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=7.44;MQ=98.34;MQ0=0;OQ=2453.97;QD=19.79;RankSumP=0.413127;SB=-940.42;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2467A>G;refseq.codonCoord=823;refseq.end=49064261;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2542;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.I823V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=46;refseq.start=49064261;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chr22 49064294 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=15.17;MQ=98.30;MQ0=0;OQ=1094.63;QD=9.05;RankSumP=0.151109;SB=-441.91;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2434A>G;refseq.codonCoord=812;refseq.end=49064294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2509;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T812A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=13;refseq.start=49064294;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chr22 49064535 . T C 27.30 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.91;MQ0=0;OQ=101.48;QD=16.91;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2275A>G;refseq.codonCoord=759;refseq.end=49064535;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2350;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N759D;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=12;refseq.start=49064535;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=filterInsoap-gatk GT 1/1 chr22 49066626 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1906A>C;refseq.codonCoord=636;refseq.end=49066626;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1981;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T636P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=29;refseq.start=49066626;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 49067680 rs28513473 T C 41.51 LowQual AC=1;AF=0.50;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=99.00;MQ0=0;QD=13.84;SB=-10.00;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1749A>G;refseq.codonCoord=583;refseq.end=49067680;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1824;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T583T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-14;refseq.start=49067680;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1,2:3:-8.34,-0.90,-3.36:24.52 chr22 49070189 . T C 82 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=97.40;MQ0=0;OQ=112.85;QD=9.40;RankSumP=0.500000;SB=-6.99;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.952A>G;refseq.codonCoord=318;refseq.end=49070189;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1027;refseq.name=NM_012401;refseq.name2=PLXNB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.K318E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-117;refseq.start=49070189;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/0 chr22 49224032 . G C 23 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=419.57;QD=46.62;RankSumP=1.00000;SB=-107.94;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.2022G>C;refseq.codonCoord=674;refseq.end=49224032;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2389;refseq.name=NM_014678;refseq.name2=SAPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A674A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=-26;refseq.start=49224032;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=soap-filterIngatk GT 1/1 chr22 49225062 . G A 233.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=787.51;QD=39.38;RankSumP=1.00000;SB=-129.67;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.2114G>A;refseq.codonCoord=705;refseq.end=49225062;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2481;refseq.name=NM_014678;refseq.name2=SAPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R705K;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=67;refseq.start=49225062;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chr22 49232641 . A G 220.72 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=159;Dels=0.00;HRun=1;HaplotypeScore=4.89;MQ=97.91;MQ0=0;OQ=5467.79;QD=34.39;RankSumP=1.00000;SB=-2542.70;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.5559T>C;refseq.codonCoord=1853;refseq.end=49232641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5754;refseq.name=NM_002972;refseq.name2=SBF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1853T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-25;refseq.start=49232641;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chr22 49241623 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.4154T>G;refseq.codonCoord=1385;refseq.end=49241623;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4349;refseq.name=NM_002972;refseq.name2=SBF1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1385G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=68;refseq.start=49241623;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chr22 49288851 . T C 22.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=23;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=83.45;QD=13.91;RankSumP=1.00000;SB=-52.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1959A>G;refseq.codonCoord=653;refseq.end=49288851;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1990;refseq.name=NM_033200;refseq.name2=LMF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q653Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=144;refseq.start=49288851;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=filterInsoap-gatk GT 1/1 chr22 49289961 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1499A>C;refseq.codonCoord=500;refseq.end=49289961;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1530;refseq.name=NM_033200;refseq.name2=LMF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H500P;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=62;refseq.start=49289961;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 49290716 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=3.08734e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1033A>C;refseq.codonCoord=345;refseq.end=49290716;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1064;refseq.name=NM_033200;refseq.name2=LMF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T345P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-19;refseq.start=49290716;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chr22 49290994 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=6.39;MQ=97.47;MQ0=0;OQ=691.47;QD=10.48;RankSumP=0.141239;SB=-6.99;SecondBestBaseQ=17;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.891C>T;refseq.codonCoord=297;refseq.end=49290994;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=922;refseq.name=NM_033200;refseq.name2=LMF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.H297H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-26;refseq.start=49290994;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chr22 49291029 . G A 159.25 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=123;Dels=0.00;HRun=1;HaplotypeScore=6.45;MQ=98.32;MQ0=0;OQ=4174.16;QD=33.94;RankSumP=1.00000;SB=-906.20;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.856C>T;refseq.codonCoord=286;refseq.end=49291029;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=887;refseq.name=NM_033200;refseq.name2=LMF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L286L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-61;refseq.start=49291029;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chr22 49307548 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.14;MQ0=0;OQ=1241.96;QD=11.94;RankSumP=0.282071;SB=-631.11;SecondBestBaseQ=31;refseq.chr=chr22;refseq.codingCoordStr=c.1233+2;refseq.end=49307548;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=false;refseq.name=NM_152299;refseq.name2=NCAPH2;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=49307548;refseq.transcriptStrand=+;set=Intersection GT 0/1 chr22 49309074 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=377.91;QD=7.71;RankSumP=0.690560;SB=-59.03;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.633A>C;refseq.codingCoordStr_2=c.633A>C;refseq.codingCoordStr_3=c.633A>C;refseq.codingCoordStr_4=c.633A>C;refseq.codonCoord_1=211;refseq.codonCoord_2=211;refseq.codonCoord_3=211;refseq.codonCoord_4=211;refseq.end_1=49309074;refseq.end_2=49309074;refseq.end_3=49309074;refseq.end_4=49309074;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=840;refseq.mrnaCoord_2=791;refseq.mrnaCoord_3=809;refseq.mrnaCoord_4=780;refseq.name2_1=SCO2;refseq.name2_2=SCO2;refseq.name2_3=SCO2;refseq.name2_4=SCO2;refseq.name_1=NM_001169109;refseq.name_2=NM_001169110;refseq.name_3=NM_001169111;refseq.name_4=NM_005138;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A211A;refseq.proteinCoordStr_2=p.A211A;refseq.proteinCoordStr_3=p.A211A;refseq.proteinCoordStr_4=p.A211A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=-210;refseq.spliceDist_2=-210;refseq.spliceDist_3=-210;refseq.spliceDist_4=-212;refseq.start_1=49309074;refseq.start_2=49309074;refseq.start_3=49309074;refseq.start_4=49309074;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=Intersection GT 1/0 chr22 49309648 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=8.64;MQ=98.76;MQ0=0;OQ=1993.08;QD=22.15;RankSumP=0.0714271;SB=-681.19;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.codingCoordStr_1=c.59G>C;refseq.codingCoordStr_2=c.59G>C;refseq.codingCoordStr_3=c.59G>C;refseq.codingCoordStr_4=c.59G>C;refseq.codonCoord_1=20;refseq.codonCoord_2=20;refseq.codonCoord_3=20;refseq.codonCoord_4=20;refseq.end_1=49309648;refseq.end_2=49309648;refseq.end_3=49309648;refseq.end_4=49309648;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=266;refseq.mrnaCoord_2=217;refseq.mrnaCoord_3=235;refseq.mrnaCoord_4=206;refseq.name2_1=SCO2;refseq.name2_2=SCO2;refseq.name2_3=SCO2;refseq.name2_4=SCO2;refseq.name_1=NM_001169109;refseq.name_2=NM_001169110;refseq.name_3=NM_001169111;refseq.name_4=NM_005138;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R20P;refseq.proteinCoordStr_2=p.R20P;refseq.proteinCoordStr_3=p.R20P;refseq.proteinCoordStr_4=p.R20P;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=72;refseq.spliceDist_2=72;refseq.spliceDist_3=72;refseq.spliceDist_4=72;refseq.start_1=49309648;refseq.start_2=49309648;refseq.start_3=49309648;refseq.start_4=49309648;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/0 chr22 49311102 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=22;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=97.26;MQ0=0;OQ=627.30;QD=15.30;RankSumP=0.702890;SB=-280.22;SecondBestBaseQ=21;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_3=c.1412C>T;refseq.codingCoordStr_4=c.1412C>T;refseq.codingCoordStr_5=c.1412C>T;refseq.codonCoord_3=471;refseq.codonCoord_4=471;refseq.codonCoord_5=471;refseq.end_1=49311285;refseq.end_2=49311530;refseq.end_3=49311102;refseq.end_4=49311102;refseq.end_5=49311102;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_3=1616;refseq.mrnaCoord_4=1532;refseq.mrnaCoord_5=1604;refseq.name2_1=SCO2;refseq.name2_2=SCO2;refseq.name2_3=TYMP;refseq.name2_4=TYMP;refseq.name2_5=TYMP;refseq.name_1=NM_001169110;refseq.name_2=NM_001169109;refseq.name_3=NM_001113755;refseq.name_4=NM_001113756;refseq.name_5=NM_001953;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_3=p.S471L;refseq.proteinCoordStr_4=p.S471L;refseq.proteinCoordStr_5=p.S471L;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_3=TCG;refseq.referenceCodon_4=TCG;refseq.referenceCodon_5=TCG;refseq.spliceDist_3=-55;refseq.spliceDist_4=-55;refseq.spliceDist_5=-55;refseq.start_1=49309730;refseq.start_2=49309730;refseq.start_3=49311102;refseq.start_4=49311102;refseq.start_5=49311102;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_3=Leu;refseq.variantAA_4=Leu;refseq.variantAA_5=Leu;refseq.variantCodon_3=TTG;refseq.variantCodon_4=TTG;refseq.variantCodon_5=TTG;set=Intersection GT 1/0 chr22 49334153 . A G 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=95.01;MQ0=0;OQ=155.82;QD=14.17;RankSumP=0.457143;SB=-6.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.692A>G;refseq.codonCoord=231;refseq.end=49334153;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=826;refseq.name=NM_138433;refseq.name2=KLHDC7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q231R;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=826;refseq.start=49334153;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 0/1 chr22 49334928 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=12.40;MQ=98.23;MQ0=0;OQ=2122.43;QD=14.34;RankSumP=0.477687;SB=-920.02;SecondBestBaseQ=24;refseq.changesAA=false;refseq.chr=chr22;refseq.codingCoordStr=c.1467G>T;refseq.codonCoord=489;refseq.end=49334928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1601;refseq.name=NM_138433;refseq.name2=KLHDC7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V489V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-1390;refseq.start=49334928;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chr22 49335059 . A G 109.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=94.98;MQ0=0;OQ=329.59;QD=13.73;RankSumP=0.0155156;SB=-138.77;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chr22;refseq.codingCoordStr=c.1598A>G;refseq.codonCoord=533;refseq.end=49335059;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1732;refseq.name=NM_138433;refseq.name2=KLHDC7B;refseq.positionType=CDS;refseq.proteinCoordStr=p.H533R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=-1259;refseq.start=49335059;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chr22 49356819 . C T 218.79 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=6.51;MQ=98.57;MQ0=0;OQ=2062.43;QD=17.63;RankSumP=0.0188487;SB=-1026.21;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.chr_7=chr22;refseq.chr_8=chr22;refseq.codingCoordStr_2=c.1489G>A;refseq.codingCoordStr_3=c.1591G>A;refseq.codingCoordStr_4=c.1348G>A;refseq.codingCoordStr_5=c.1591G>A;refseq.codingCoordStr_6=c.1591G>A;refseq.codingCoordStr_7=c.1591G>A;refseq.codingCoordStr_8=c.1591G>A;refseq.codonCoord_2=497;refseq.codonCoord_3=531;refseq.codonCoord_4=450;refseq.codonCoord_5=531;refseq.codonCoord_6=531;refseq.codonCoord_7=531;refseq.codonCoord_8=531;refseq.end_1=49356819;refseq.end_2=49356819;refseq.end_3=49356819;refseq.end_4=49356819;refseq.end_5=49356819;refseq.end_6=49356819;refseq.end_7=49356819;refseq.end_8=49356819;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=3833;refseq.mrnaCoord_2=1627;refseq.mrnaCoord_3=1729;refseq.mrnaCoord_4=1486;refseq.mrnaCoord_5=1753;refseq.mrnaCoord_6=1674;refseq.mrnaCoord_7=1729;refseq.mrnaCoord_8=1674;refseq.name2_1=CHKB-CPT1B;refseq.name2_2=CPT1B;refseq.name2_3=CPT1B;refseq.name2_4=CPT1B;refseq.name2_5=CPT1B;refseq.name2_6=CPT1B;refseq.name2_7=CPT1B;refseq.name2_8=CPT1B;refseq.name_1=NR_027928;refseq.name_2=NM_001145134;refseq.name_3=NM_001145135;refseq.name_4=NM_001145136;refseq.name_5=NM_001145137;refseq.name_6=NM_004377;refseq.name_7=NM_152245;refseq.name_8=NM_152246;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.E497K;refseq.proteinCoordStr_3=p.E531K;refseq.proteinCoordStr_4=p.E450K;refseq.proteinCoordStr_5=p.E531K;refseq.proteinCoordStr_6=p.E531K;refseq.proteinCoordStr_7=p.E531K;refseq.proteinCoordStr_8=p.E531K;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceAA_5=Glu;refseq.referenceAA_6=Glu;refseq.referenceAA_7=Glu;refseq.referenceAA_8=Glu;refseq.referenceCodon_2=GAG;refseq.referenceCodon_3=GAG;refseq.referenceCodon_4=GAG;refseq.referenceCodon_5=GAG;refseq.referenceCodon_6=GAG;refseq.referenceCodon_7=GAG;refseq.referenceCodon_8=GAG;refseq.spliceDist_1=16;refseq.spliceDist_2=16;refseq.spliceDist_3=16;refseq.spliceDist_4=16;refseq.spliceDist_5=16;refseq.spliceDist_6=16;refseq.spliceDist_7=16;refseq.spliceDist_8=16;refseq.start_1=49356819;refseq.start_2=49356819;refseq.start_3=49356819;refseq.start_4=49356819;refseq.start_5=49356819;refseq.start_6=49356819;refseq.start_7=49356819;refseq.start_8=49356819;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantAA_5=Lys;refseq.variantAA_6=Lys;refseq.variantAA_7=Lys;refseq.variantAA_8=Lys;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;refseq.variantCodon_5=AAG;refseq.variantCodon_6=AAG;refseq.variantCodon_7=AAG;refseq.variantCodon_8=AAG;set=Intersection GT 0/1 chr22 49358242 . G C 127.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=121;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=98.90;MQ0=0;OQ=1606.86;QD=13.28;RankSumP=0.0966343;SB=-306.91;SecondBestBaseQ=29;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.chr_7=chr22;refseq.chr_8=chr22;refseq.codingCoordStr_3=c.1178C>G;refseq.codingCoordStr_4=c.1280C>G;refseq.codingCoordStr_5=c.1280C>G;refseq.codingCoordStr_6=c.1280C>G;refseq.codingCoordStr_7=c.1280C>G;refseq.codingCoordStr_8=c.1280C>G;refseq.codonCoord_3=393;refseq.codonCoord_4=427;refseq.codonCoord_5=427;refseq.codonCoord_6=427;refseq.codonCoord_7=427;refseq.codonCoord_8=427;refseq.end_1=49358909;refseq.end_2=49358242;refseq.end_3=49358242;refseq.end_4=49358242;refseq.end_5=49358242;refseq.end_6=49358242;refseq.end_7=49358242;refseq.end_8=49358242;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_2=3522;refseq.mrnaCoord_3=1316;refseq.mrnaCoord_4=1418;refseq.mrnaCoord_5=1442;refseq.mrnaCoord_6=1363;refseq.mrnaCoord_7=1418;refseq.mrnaCoord_8=1363;refseq.name2_1=CPT1B;refseq.name2_2=CHKB-CPT1B;refseq.name2_3=CPT1B;refseq.name2_4=CPT1B;refseq.name2_5=CPT1B;refseq.name2_6=CPT1B;refseq.name2_7=CPT1B;refseq.name2_8=CPT1B;refseq.name_1=NM_001145136;refseq.name_2=NR_027928;refseq.name_3=NM_001145134;refseq.name_4=NM_001145135;refseq.name_5=NM_001145137;refseq.name_6=NM_004377;refseq.name_7=NM_152245;refseq.name_8=NM_152246;refseq.numMatchingRecords=8;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_3=p.S393C;refseq.proteinCoordStr_4=p.S427C;refseq.proteinCoordStr_5=p.S427C;refseq.proteinCoordStr_6=p.S427C;refseq.proteinCoordStr_7=p.S427C;refseq.proteinCoordStr_8=p.S427C;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceAA_7=Ser;refseq.referenceAA_8=Ser;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.referenceCodon_5=TCC;refseq.referenceCodon_6=TCC;refseq.referenceCodon_7=TCC;refseq.referenceCodon_8=TCC;refseq.spliceDist_2=-73;refseq.spliceDist_3=-73;refseq.spliceDist_4=-73;refseq.spliceDist_5=-73;refseq.spliceDist_6=-73;refseq.spliceDist_7=-73;refseq.spliceDist_8=-73;refseq.start_1=49358228;refseq.start_2=49358242;refseq.start_3=49358242;refseq.start_4=49358242;refseq.start_5=49358242;refseq.start_6=49358242;refseq.start_7=49358242;refseq.start_8=49358242;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_3=Cys;refseq.variantAA_4=Cys;refseq.variantAA_5=Cys;refseq.variantAA_6=Cys;refseq.variantAA_7=Cys;refseq.variantAA_8=Cys;refseq.variantCodon_3=TGC;refseq.variantCodon_4=TGC;refseq.variantCodon_5=TGC;refseq.variantCodon_6=TGC;refseq.variantCodon_7=TGC;refseq.variantCodon_8=TGC;set=Intersection GT 0/1 chr22 49362704 . T C 151.90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=98.89;MQ0=0;OQ=1800.76;QD=13.44;RankSumP=0.0740219;SB=-575.22;SecondBestBaseQ=28;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.chr_7=chr22;refseq.chr_8=chr22;refseq.codingCoordStr_2=c.196A>G;refseq.codingCoordStr_3=c.196A>G;refseq.codingCoordStr_4=c.196A>G;refseq.codingCoordStr_5=c.196A>G;refseq.codingCoordStr_6=c.196A>G;refseq.codingCoordStr_7=c.196A>G;refseq.codingCoordStr_8=c.196A>G;refseq.codonCoord_2=66;refseq.codonCoord_3=66;refseq.codonCoord_4=66;refseq.codonCoord_5=66;refseq.codonCoord_6=66;refseq.codonCoord_7=66;refseq.codonCoord_8=66;refseq.end_1=49362704;refseq.end_2=49362704;refseq.end_3=49362704;refseq.end_4=49362704;refseq.end_5=49362704;refseq.end_6=49362704;refseq.end_7=49362704;refseq.end_8=49362704;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2438;refseq.mrnaCoord_2=334;refseq.mrnaCoord_3=334;refseq.mrnaCoord_4=334;refseq.mrnaCoord_5=358;refseq.mrnaCoord_6=279;refseq.mrnaCoord_7=334;refseq.mrnaCoord_8=279;refseq.name2_1=CHKB-CPT1B;refseq.name2_2=CPT1B;refseq.name2_3=CPT1B;refseq.name2_4=CPT1B;refseq.name2_5=CPT1B;refseq.name2_6=CPT1B;refseq.name2_7=CPT1B;refseq.name2_8=CPT1B;refseq.name_1=NR_027928;refseq.name_2=NM_001145134;refseq.name_3=NM_001145135;refseq.name_4=NM_001145136;refseq.name_5=NM_001145137;refseq.name_6=NM_004377;refseq.name_7=NM_152245;refseq.name_8=NM_152246;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.I66V;refseq.proteinCoordStr_3=p.I66V;refseq.proteinCoordStr_4=p.I66V;refseq.proteinCoordStr_5=p.I66V;refseq.proteinCoordStr_6=p.I66V;refseq.proteinCoordStr_7=p.I66V;refseq.proteinCoordStr_8=p.I66V;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceAA_5=Ile;refseq.referenceAA_6=Ile;refseq.referenceAA_7=Ile;refseq.referenceAA_8=Ile;refseq.referenceCodon_2=ATC;refseq.referenceCodon_3=ATC;refseq.referenceCodon_4=ATC;refseq.referenceCodon_5=ATC;refseq.referenceCodon_6=ATC;refseq.referenceCodon_7=ATC;refseq.referenceCodon_8=ATC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.spliceDist_4=55;refseq.spliceDist_5=55;refseq.spliceDist_6=55;refseq.spliceDist_7=55;refseq.spliceDist_8=55;refseq.start_1=49362704;refseq.start_2=49362704;refseq.start_3=49362704;refseq.start_4=49362704;refseq.start_5=49362704;refseq.start_6=49362704;refseq.start_7=49362704;refseq.start_8=49362704;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantCodon_2=GTC;refseq.variantCodon_3=GTC;refseq.variantCodon_4=GTC;refseq.variantCodon_5=GTC;refseq.variantCodon_6=GTC;refseq.variantCodon_7=GTC;refseq.variantCodon_8=GTC;set=Intersection GT 1/0 chr22 49410905 . G C 279.04 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=98.61;MQ0=0;OQ=4136.45;QD=46.48;RankSumP=1.00000;SB=-1665.56;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.codingCoordStr_1=c.1172C>G;refseq.codingCoordStr_2=c.1172C>G;refseq.codingCoordStr_3=c.1172C>G;refseq.codingCoordStr_4=c.1172C>G;refseq.codingCoordStr_5=c.920C>G;refseq.codonCoord_1=391;refseq.codonCoord_2=391;refseq.codonCoord_3=391;refseq.codonCoord_4=391;refseq.codonCoord_5=307;refseq.end_1=49410905;refseq.end_2=49410905;refseq.end_3=49410905;refseq.end_4=49410905;refseq.end_5=49410905;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1578;refseq.mrnaCoord_2=1473;refseq.mrnaCoord_3=1425;refseq.mrnaCoord_4=1380;refseq.mrnaCoord_5=1188;refseq.name2_1=ARSA;refseq.name2_2=ARSA;refseq.name2_3=ARSA;refseq.name2_4=ARSA;refseq.name2_5=ARSA;refseq.name_1=NM_000487;refseq.name_2=NM_001085425;refseq.name_3=NM_001085426;refseq.name_4=NM_001085427;refseq.name_5=NM_001085428;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.T391S;refseq.proteinCoordStr_2=p.T391S;refseq.proteinCoordStr_3=p.T391S;refseq.proteinCoordStr_4=p.T391S;refseq.proteinCoordStr_5=p.T307S;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.referenceCodon_3=ACT;refseq.referenceCodon_4=ACT;refseq.referenceCodon_5=ACT;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.spliceDist_3=-33;refseq.spliceDist_4=-33;refseq.spliceDist_5=-33;refseq.start_1=49410905;refseq.start_2=49410905;refseq.start_3=49410905;refseq.start_4=49410905;refseq.start_5=49410905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;refseq.variantCodon_5=AGT;set=Intersection GT 1/1 chr22 49554089 . G A 42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.0888889;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chr22;refseq.chr_2=chr22;refseq.chr_3=chr22;refseq.chr_4=chr22;refseq.chr_5=chr22;refseq.chr_6=chr22;refseq.chr_7=chr22;refseq.chr_8=chr22;refseq.codingCoordStr_2=c.671C>T;refseq.codingCoordStr_3=c.671C>T;refseq.codingCoordStr_4=c.671C>T;refseq.codingCoordStr_5=c.671C>T;refseq.codingCoordStr_6=c.668C>T;refseq.codingCoordStr_7=c.698C>T;refseq.codingCoordStr_8=c.668C>T;refseq.codonCoord_2=224;refseq.codonCoord_3=224;refseq.codonCoord_4=224;refseq.codonCoord_5=224;refseq.codonCoord_6=223;refseq.codonCoord_7=233;refseq.codonCoord_8=223;refseq.end_1=49568403;refseq.end_2=49554089;refseq.end_3=49554089;refseq.end_4=49554089;refseq.end_5=49554089;refseq.end_6=49554089;refseq.end_7=49554089;refseq.end_8=49554089;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_2=887;refseq.mrnaCoord_3=883;refseq.mrnaCoord_4=1042;refseq.mrnaCoord_5=1135;refseq.mrnaCoord_6=884;refseq.mrnaCoord_7=1069;refseq.mrnaCoord_8=880;refseq.name2_1=RPL23AP82;refseq.name2_2=RABL2B;refseq.name2_3=RABL2B;refseq.name2_4=RABL2B;refseq.name2_5=RABL2B;refseq.name2_6=RABL2B;refseq.name2_7=RABL2B;refseq.name2_8=RABL2B;refseq.name_1=NR_026981;refseq.name_2=NM_001003789;refseq.name_3=NM_001130919;refseq.name_4=NM_001130920;refseq.name_5=NM_001130921;refseq.name_6=NM_001130922;refseq.name_7=NM_001130923;refseq.name_8=NM_007081;refseq.numMatchingRecords=8;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_2=p.A224V;refseq.proteinCoordStr_3=p.A224V;refseq.proteinCoordStr_4=p.A224V;refseq.proteinCoordStr_5=p.A224V;refseq.proteinCoordStr_6=p.A223V;refseq.proteinCoordStr_7=p.A233V;refseq.proteinCoordStr_8=p.A223V;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.referenceCodon_5=GCG;refseq.referenceCodon_6=GCG;refseq.referenceCodon_7=GCG;refseq.referenceCodon_8=GCG;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.spliceDist_4=80;refseq.spliceDist_5=80;refseq.spliceDist_6=80;refseq.spliceDist_7=80;refseq.spliceDist_8=80;refseq.start_1=49542631;refseq.start_2=49554089;refseq.start_3=49554089;refseq.start_4=49554089;refseq.start_5=49554089;refseq.start_6=49554089;refseq.start_7=49554089;refseq.start_8=49554089;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantAA_7=Val;refseq.variantAA_8=Val;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;refseq.variantCodon_6=GTG;refseq.variantCodon_7=GTG;refseq.variantCodon_8=GTG;set=soap GT 1/0 chrX 2710157 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=381;Dels=0.00;HRun=1;HaplotypeScore=16.10;MQ=98.81;MQ0=0;OQ=7511.84;QD=19.72;RankSumP=0.162337;SB=-2706.72;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.178G>A;refseq.codingCoordStr_2=c.178G>A;refseq.codingCoordStr_3=c.178G>A;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.codonCoord_3=60;refseq.end_1=2710157;refseq.end_2=2710157;refseq.end_3=2710157;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=401;refseq.mrnaCoord_2=401;refseq.mrnaCoord_3=401;refseq.name2_1=XG;refseq.name2_2=XG;refseq.name2_3=XG;refseq.name_1=NM_001141919;refseq.name_2=NM_001141920;refseq.name_3=NM_175569;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D60N;refseq.proteinCoordStr_2=p.D60N;refseq.proteinCoordStr_3=p.D60N;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.spliceDist_3=-13;refseq.start_1=2710157;refseq.start_2=2710157;refseq.start_3=2710157;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;set=Intersection GT 1/0 chrX 2787985 . C T 69 PASS AC=2;AF=1.00;AN=2;BestBaseQ=21;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=11.95;MQ=97.82;MQ0=0;OQ=3536.70;QD=25.44;RankSumP=1.00000;SB=-557.74;SecondBestBaseQ=3;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.716C>T;refseq.codingCoordStr_2=c.809C>T;refseq.codonCoord_1=239;refseq.codonCoord_2=270;refseq.end_1=2787985;refseq.end_2=2787985;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=998;refseq.mrnaCoord_2=1091;refseq.name2_1=GYG2;refseq.name2_2=GYG2;refseq.name_1=NM_001079855;refseq.name_2=NM_003918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A239V;refseq.proteinCoordStr_2=p.A270V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=102;refseq.spliceDist_2=102;refseq.start_1=2787985;refseq.start_2=2787985;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=Intersection GT 1/1 chrX 2789570 . A G 438 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=98.57;MQ0=0;OQ=5322.31;QD=37.48;RankSumP=1.00000;SB=-2094.47;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.845A>G;refseq.codingCoordStr_2=c.938A>G;refseq.codonCoord_1=282;refseq.codonCoord_2=313;refseq.end_1=2789570;refseq.end_2=2789570;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1127;refseq.mrnaCoord_2=1220;refseq.name2_1=GYG2;refseq.name2_2=GYG2;refseq.name_1=NM_001079855;refseq.name_2=NM_003918;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H282R;refseq.proteinCoordStr_2=p.H313R;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=8;refseq.spliceDist_2=8;refseq.spliceInfo_1=splice-acceptor_8;refseq.spliceInfo_2=splice-acceptor_8;refseq.start_1=2789570;refseq.start_2=2789570;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chrX 2835403 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=21.66;MQ=97.77;MQ0=0;OQ=2285.21;QD=13.06;RankSumP=0.352694;SB=-586.85;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1691T>C;refseq.codonCoord=564;refseq.end=2835403;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1767;refseq.name=NM_001669;refseq.name2=ARSD;refseq.positionType=CDS;refseq.proteinCoordStr=p.M564T;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=271;refseq.start=2835403;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chrX 2842739 . C T 100.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=445;Dels=0.00;HRun=0;HaplotypeScore=20.42;MQ=98.91;MQ0=0;OQ=8722.40;QD=19.60;RankSumP=0.163259;SB=-2522.54;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.1076G>A;refseq.codonCoord_2=359;refseq.end_1=2843586;refseq.end_2=2842739;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1152;refseq.name2_1=ARSD;refseq.name2_2=ARSD;refseq.name_1=NM_001669;refseq.name_2=NM_009589;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R359H;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_2=76;refseq.start_1=2838845;refseq.start_2=2842739;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=His;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chrX 2842742 . G C 254.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=456;Dels=0.00;HRun=0;HaplotypeScore=12.67;MQ=98.91;MQ0=0;OQ=10444.57;QD=22.90;RankSumP=0.410507;SB=-3139.43;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.1073C>G;refseq.codonCoord_2=358;refseq.end_1=2843586;refseq.end_2=2842742;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=1149;refseq.name2_1=ARSD;refseq.name2_2=ARSD;refseq.name_1=NM_001669;refseq.name_2=NM_009589;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T358R;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACA;refseq.spliceDist_2=73;refseq.start_1=2838845;refseq.start_2=2842742;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Arg;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chrX 2862951 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=5.93;MQ=59.08;MQ0=17;OQ=912.40;QD=7.13;RankSumP=0.301925;SB=-277.77;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1692C>T;refseq.codonCoord=564;refseq.end=2862951;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1942;refseq.name=NM_000047;refseq.name2=ARSE;refseq.positionType=CDS;refseq.proteinCoordStr=p.N564N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-279;refseq.start=2862951;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/0 chrX 2863146 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=141;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=61.99;MQ0=2;OQ=2133.37;QD=15.13;RankSumP=0.360252;SB=-677.56;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1497G>A;refseq.codonCoord=499;refseq.end=2863146;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1747;refseq.name=NM_000047;refseq.name2=ARSE;refseq.positionType=CDS;refseq.proteinCoordStr=p.P499P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=86;refseq.start=2863146;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chrX 2866155 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=544;Dels=0.00;HRun=0;HaplotypeScore=77.46;MQ=75.72;MQ0=5;OQ=8147.81;QD=14.98;RankSumP=0.0101135;SB=-2577.21;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1270G>A;refseq.codonCoord=424;refseq.end=2866155;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1520;refseq.name=NM_000047;refseq.name2=ARSE;refseq.positionType=CDS;refseq.proteinCoordStr=p.G424S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-20;refseq.start=2866155;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap-filterIngatk GT 0/1 chrX 2946675 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.865T>G;refseq.codonCoord=289;refseq.end=2946675;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=865;refseq.name=NM_001011719;refseq.name2=ARSH;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y289D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-37;refseq.start=2946675;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chrX 2952109 . T C 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=197;Dels=0.00;HRun=2;HaplotypeScore=11.37;MQ=98.86;MQ0=0;OQ=7755.03;QD=39.37;RankSumP=1.00000;SB=-3196.97;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.949T>C;refseq.codonCoord=317;refseq.end=2952109;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=949;refseq.name=NM_001011719;refseq.name2=ARSH;refseq.positionType=CDS;refseq.proteinCoordStr=p.L317L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=48;refseq.start=2952109;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/1 chrX 3012687 . A G 357.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=98.84;MQ0=0;OQ=9687.45;QD=40.20;RankSumP=1.00000;SB=-2589.67;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.810A>G;refseq.codonCoord=270;refseq.end=3012687;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=899;refseq.name=NM_004042;refseq.name2=ARSF;refseq.positionType=CDS;refseq.proteinCoordStr=p.E270E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-21;refseq.start=3012687;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chrX 3238411 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=8.24;MQ=35.54;MQ0=49;OQ=899.09;QD=7.31;RankSumP=0.281094;SB=-144.62;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.7833C>T;refseq.codonCoord=2611;refseq.end=3238411;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=7990;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A2611A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1255;refseq.start=3238411;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/0 chrX 3238891 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=277;Dels=0.00;HRun=1;HaplotypeScore=8.49;MQ=88.78;MQ0=13;OQ=2952.63;QD=10.66;RankSumP=0.000309856;SB=-771.35;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.7353T>C;refseq.codonCoord=2451;refseq.end=3238891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=7510;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2451T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=775;refseq.start=3238891;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=filterInsoap-gatk GT 0/1 chrX 3245724 . C T 368.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=95.44;MQ0=0;OQ=4907.59;QD=19.47;RankSumP=0.0584858;SB=-1760.08;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.5998G>A;refseq.codonCoord=2000;refseq.end=3245724;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=6155;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G2000S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=321;refseq.start=3245724;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chrX 3248167 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=338;Dels=0.00;HRun=2;HaplotypeScore=19.56;MQ=96.89;MQ0=1;OQ=5775.67;QD=17.09;RankSumP=0.260933;SB=-2389.88;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.5559A>C;refseq.codonCoord=1853;refseq.end=3248167;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5716;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1853P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-119;refseq.start=3248167;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chrX 3248733 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=806;Dels=0.00;HRun=1;HaplotypeScore=12.85;MQ=98.67;MQ0=0;OQ=16276.80;QD=20.19;RankSumP=0.0201811;SB=-6716.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4993C>T;refseq.codonCoord=1665;refseq.end=3248733;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5150;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1665S;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-685;refseq.start=3248733;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chrX 3249545 . C T 143.08 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=98.69;MQ0=0;OQ=1775.41;QD=13.98;RankSumP=0.311165;SB=-683.56;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4181G>A;refseq.codonCoord=1394;refseq.end=3249545;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4338;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1394D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-1497;refseq.start=3249545;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 0/1 chrX 3250343 . G A 356.38 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=268;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=98.78;MQ0=0;OQ=4896.00;QD=18.27;RankSumP=0.460073;SB=-1861.82;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3383C>T;refseq.codonCoord=1128;refseq.end=3250343;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3540;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1128V;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-2295;refseq.start=3250343;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chrX 3251050 . G A 196.65 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=509;Dels=0.00;HRun=0;HaplotypeScore=17.79;MQ=98.68;MQ0=0;OQ=8745.55;QD=17.18;RankSumP=0.417733;SB=-3339.75;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2676C>T;refseq.codonCoord=892;refseq.end=3251050;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2833;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S892S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1967;refseq.start=3251050;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/0 chrX 3251256 . T C 207.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=550;Dels=0.00;HRun=0;HaplotypeScore=12.77;MQ=98.59;MQ0=0;OQ=10069.99;QD=18.31;RankSumP=0.383149;SB=-3994.17;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2470A>G;refseq.codonCoord=824;refseq.end=3251256;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2627;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.I824V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=1761;refseq.start=3251256;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/0 chrX 3251284 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=629;Dels=0.00;HRun=1;HaplotypeScore=29.92;MQ=98.59;MQ0=0;OQ=11969.72;QD=19.03;RankSumP=0.189807;SB=-4965.69;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2442T>C;refseq.codonCoord=814;refseq.end=3251284;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2599;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.S814S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=1733;refseq.start=3251284;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chrX 3251317 . T C 207.09 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=6.08;MQ=98.66;MQ0=0;OQ=10862.75;QD=17.98;RankSumP=0.0982824;SB=-3700.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2409A>G;refseq.codonCoord=803;refseq.end=3251317;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2566;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.P803P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=1700;refseq.start=3251317;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 1/0 chrX 3251791 . G A 208.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=527;Dels=0.00;HRun=0;HaplotypeScore=15.44;MQ=85.32;MQ0=0;OQ=10325.67;QD=19.59;RankSumP=0.364326;SB=-3995.79;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1935C>T;refseq.codonCoord=645;refseq.end=3251791;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2092;refseq.name=NM_015419;refseq.name2=MXRA5;refseq.positionType=CDS;refseq.proteinCoordStr=p.D645D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=1226;refseq.start=3251791;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chrX 3602725 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=538;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=82.19;MQ0=108;OQ=8573.84;QD=15.94;RankSumP=0.180921;SB=-3411.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.249C>T;refseq.codonCoord=83;refseq.end=3602725;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_005044;refseq.name2=PRKX;refseq.positionType=CDS;refseq.proteinCoordStr=p.P83P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=83;refseq.start=3602725;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 3641167 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=97.94;MQ0=0;OQ=206.25;QD=8.97;RankSumP=0.463687;SB=-100.80;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.128T>C;refseq.codonCoord=43;refseq.end=3641167;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=509;refseq.name=NM_005044;refseq.name2=PRKX;refseq.positionType=CDS;refseq.proteinCoordStr=p.V43A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-39;refseq.start=3641167;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 0/1 chrX 5821530 . G C 98 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.187247;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1779C>G;refseq.codingCoordStr_2=c.1779C>G;refseq.codonCoord_1=593;refseq.codonCoord_2=593;refseq.end_1=5821530;refseq.end_2=5821530;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2243;refseq.mrnaCoord_2=2209;refseq.name2_1=NLGN4X;refseq.name2_2=NLGN4X;refseq.name_1=NM_020742;refseq.name_2=NM_181332;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L593L;refseq.proteinCoordStr_2=p.L593L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=178;refseq.spliceDist_2=178;refseq.start_1=5821530;refseq.start_2=5821530;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTG;refseq.variantCodon_2=CTG;set=soap GT 0/1 chrX 5821532 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.180095;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1777C>T;refseq.codingCoordStr_2=c.1777C>T;refseq.codonCoord_1=593;refseq.codonCoord_2=593;refseq.end_1=5821532;refseq.end_2=5821532;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2241;refseq.mrnaCoord_2=2207;refseq.name2_1=NLGN4X;refseq.name2_2=NLGN4X;refseq.name_1=NM_020742;refseq.name_2=NM_181332;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L593F;refseq.proteinCoordStr_2=p.L593F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=176;refseq.spliceDist_2=176;refseq.start_1=5821532;refseq.start_2=5821532;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;set=soap GT 1/0 chrX 5831786 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=550;Dels=0.00;HRun=0;HaplotypeScore=22.65;MQ=66.34;MQ0=104;OQ=7646.99;QD=13.90;RankSumP=0.285764;SB=-2296.54;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.933C>T;refseq.codingCoordStr_2=c.933C>T;refseq.codonCoord_1=311;refseq.codonCoord_2=311;refseq.end_1=5831786;refseq.end_2=5831786;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1397;refseq.mrnaCoord_2=1363;refseq.name2_1=NLGN4X;refseq.name2_2=NLGN4X;refseq.name_1=NM_020742;refseq.name_2=NM_181332;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T311T;refseq.proteinCoordStr_2=p.T311T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.start_1=5831786;refseq.start_2=5831786;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/0 chrX 6461864 . C T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=1003;Dels=0.00;HRun=1;HaplotypeScore=35.80;MQ=7.51;MQ0=913;OQ=557.17;QD=0.56;RankSumP=0.266129;SB=41.16;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.483G>A;refseq.codonCoord=161;refseq.end=6461864;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=790;refseq.name=NM_016379;refseq.name2=VCX3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E161E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-205;refseq.start=6461864;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chrX 6461869 . C T 43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=1049;Dels=0.00;HRun=0;HaplotypeScore=34.42;MQ=5.70;MQ0=998;OQ=109.31;QD=0.10;RankSumP=0.411765;SB=35.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.478G>A;refseq.codonCoord=160;refseq.end=6461869;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=785;refseq.name=NM_016379;refseq.name2=VCX3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.V160M;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-210;refseq.start=6461869;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=soap-filterIngatk GT 0/1 chrX 6461984 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.833333;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.363A>G;refseq.codonCoord=121;refseq.end=6461984;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=670;refseq.name=NM_016379;refseq.name2=VCX3A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E121E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=261;refseq.start=6461984;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT 1/0 chrX 7771554 . A G 41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=814;Dels=0.00;HRun=0;HaplotypeScore=36.83;MQ=7.38;MQ0=806;OQ=53.97;QD=0.07;RankSumP=0.342857;SB=-10.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.118A>G;refseq.codonCoord=40;refseq.end=7771554;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=337;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.K40E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=16;refseq.start=7771554;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 0/1 chrX 7771645 . C G 41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=22;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=32.00;MQ0=36;OQ=227.78;QD=4.75;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.209C>G;refseq.codonCoord=70;refseq.end=7771645;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.A70G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=107;refseq.start=7771645;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=Intersection GT 1/1 chrX 7771747 . T C 15 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=30;DP=697;Dels=0.00;HRun=5;HaplotypeScore=22.21;MQ=43.06;MQ0=75;OQ=14542.32;QD=20.86;RankSumP=1.00000;SB=-3890.08;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.311T>C;refseq.codonCoord=104;refseq.end=7771747;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=209;refseq.start=7771747;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chrX 7771810 . G C -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1099;Dels=0.00;HRun=0;HaplotypeScore=181.32;MQ=24.48;MQ0=846;OQ=352.38;QD=0.32;SB=-181.01;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.374G>C;refseq.codonCoord=125;refseq.end=7771810;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=593;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.S125T;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=272;refseq.start=7771810;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1053,45:203:-99.66,-61.13,-861.64:99 chrX 7771812 . C G 21.63 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=1101;Dels=0.00;HRun=0;HaplotypeScore=192.99;MQ=21.74;MQ0=879;QD=0.02;SB=57.26;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.376C>G;refseq.codonCoord=126;refseq.end=7771812;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=595;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q126E;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=274;refseq.start=7771812;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:1064,36:176:-58.46,-53.01,-779.29:54.44 chrX 7771974 . A G 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.203471;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.538A>G;refseq.codonCoord=180;refseq.end=7771974;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=757;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.M180V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-211;refseq.start=7771974;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 0/1 chrX 7771979 . A G 73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.424999;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.543A>G;refseq.codonCoord=181;refseq.end=7771979;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=762;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.E181E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-206;refseq.start=7771979;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 0/1 chrX 7772017 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=1224;Dels=0.00;HRun=0;HaplotypeScore=15.94;MQ=24.30;MQ0=419;OQ=95.03;QD=0.08;RankSumP=0.379738;SB=318.72;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.581C>T;refseq.codonCoord=194;refseq.end=7772017;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=800;refseq.name=NM_013452;refseq.name2=VCX;refseq.positionType=CDS;refseq.proteinCoordStr=p.P194L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-168;refseq.start=7772017;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 0/1 chrX 8098080 . G C 271.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=7.21;MQ=85.89;MQ0=8;OQ=11117.73;QD=42.11;RankSumP=1.00000;SB=-3488.70;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.413C>G;refseq.codonCoord=138;refseq.end=8098080;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T138S;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-96;refseq.start=8098080;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chrX 8098160 . T C 5037.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=4.95;MQ=86.48;MQ0=0;QD=36.24;RankSumP=1.00000;SB=-1310.87;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.333A>G;refseq.codonCoord=111;refseq.end=8098160;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E111E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-176;refseq.start=8098160;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/1 chrX 8098165 . C G 2780.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=28;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=3.05;MQ=84.26;MQ0=0;QD=24.82;RankSumP=1.00000;SB=-972.45;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.328G>C;refseq.codonCoord=110;refseq.end=8098165;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=635;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V110L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-181;refseq.start=8098165;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=soap-filterIngatk GT 1/1 chrX 8098170 . C G 1224.60 SnpCluster AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=4.21;MQ=79.13;MQ0=1;QD=16.33;SB=-89.83;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.323G>C;refseq.codonCoord=108;refseq.end=8098170;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=630;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S108T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-186;refseq.start=8098170;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:1,74:29:-126.05,-8.74,-0.01:87.29 chrX 8098171 . T C 881.58 SnpCluster AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=4.73;MQ=77.36;MQ0=2;QD=12.78;SB=-78.36;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.322A>G;refseq.codonCoord=108;refseq.end=8098171;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=629;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S108G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-187;refseq.start=8098171;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:2,67:24:-91.75,-7.23,-0.01:72.21 chrX 8098182 . A G 2 BadSOAPSNP;FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=55;Dels=0.00;HRun=5;HaplotypeScore=6.39;MQ=72.18;MQ0=6;OQ=1436.76;QD=26.12;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.311T>C;refseq.codonCoord=104;refseq.end=8098182;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=618;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L104P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-198;refseq.start=8098182;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/1 chrX 8098284 . G C 20.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.68;MQ0=5;OQ=160.36;QD=17.82;RankSumP=1.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.209C>G;refseq.codonCoord=70;refseq.end=8098284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=516;refseq.name=NM_016378;refseq.name2=VCX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A70G;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=107;refseq.start=8098284;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=filterInsoap-gatk GT 1/1 chrX 8463641 . G A 327.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=198;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=83.76;MQ0=10;OQ=7677.77;QD=38.78;RankSumP=1.00000;SB=-2477.63;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1833C>T;refseq.codonCoord=611;refseq.end=8463641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1983;refseq.name=NM_000216;refseq.name2=KAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I611I;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-10;refseq.spliceInfo=splice-donor_-10;refseq.start=8463641;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chrX 8464833 . C T 318.84 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=96.50;MQ0=0;OQ=4159.29;QD=41.59;RankSumP=1.00000;SB=-1934.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1600G>A;refseq.codonCoord=534;refseq.end=8464833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1750;refseq.name=NM_000216;refseq.name2=KAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V534I;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=-22;refseq.start=8464833;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/1 chrX 8513402 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.762A>C;refseq.codonCoord=254;refseq.end=8513402;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=912;refseq.name=NM_000216;refseq.name2=KAL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R254S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=36;refseq.start=8513402;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=FilteredInAll GT 1/0 chrX 9801739 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.213A>G;refseq.codonCoord=71;refseq.end=9801739;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=303;refseq.name=NM_001649;refseq.name2=SHROOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G71G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=48;refseq.start=9801739;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 9819098 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=5.36;MQ=98.61;MQ0=0;OQ=531.32;QD=8.86;RankSumP=0.700238;SB=-135.27;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.399A>G;refseq.codonCoord=133;refseq.end=9819098;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=489;refseq.name=NM_001649;refseq.name2=SHROOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P133P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-51;refseq.start=9819098;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=Intersection GT 0/1 chrX 9822731 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=99.00;MQ0=0;OQ=594.60;QD=15.25;RankSumP=0.403470;SB=-104.91;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.783G>A;refseq.codonCoord=261;refseq.end=9822731;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=873;refseq.name=NM_001649;refseq.name2=SHROOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S261S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=334;refseq.start=9822731;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chrX 9874947 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=97.75;MQ0=0;OQ=381.96;QD=7.80;RankSumP=0.703918;SB=-147.70;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4821G>C;refseq.codonCoord=1607;refseq.end=9874947;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=4911;refseq.name=NM_001649;refseq.name2=SHROOM2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1607F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=237;refseq.start=9874947;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chrX 10045674 . T C 191.53 PASS AC=2;AF=1.00;AN=2;BestBaseQ=20;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=8.33;MQ=97.74;MQ0=0;OQ=583.22;QD=17.67;RankSumP=1.00000;SB=-314.46;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1575T>C;refseq.codonCoord=525;refseq.end=10045674;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1773;refseq.name=NM_015691;refseq.name2=WWC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.D525D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-56;refseq.start=10045674;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chrX 10056142 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2221T>G;refseq.codonCoord=741;refseq.end=10056142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2419;refseq.name=NM_015691;refseq.name2=WWC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C741G;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-60;refseq.start=10056142;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 10058055 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;DB;DP=382;Dels=0.00;HRun=0;HaplotypeScore=36.27;MQ=98.28;MQ0=0;OQ=5771.24;QD=15.11;RankSumP=0.270082;SB=-79.50;SecondBestBaseQ=22;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2492C>T;refseq.codonCoord=831;refseq.end=10058055;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2690;refseq.name=NM_015691;refseq.name2=WWC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P831L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=60;refseq.start=10058055;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chrX 10134758 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=19;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.785C>G;refseq.codonCoord=262;refseq.end=10134758;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1215;refseq.name=NM_001830;refseq.name2=CLCN4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A262G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=23;refseq.start=10134758;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 11116905 . G A 12.05 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=221;Dels=0.00;HRun=2;HaplotypeScore=10.37;MQ=98.08;MQ0=0;QD=0.05;RankSumP=0.00000;SB=363.25;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.941C>T;refseq.codingCoordStr_2=c.332C>T;refseq.codingCoordStr_3=c.941C>T;refseq.codonCoord_1=314;refseq.codonCoord_2=111;refseq.codonCoord_3=314;refseq.end_1=11116905;refseq.end_2=11116905;refseq.end_3=11116905;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1814;refseq.mrnaCoord_2=643;refseq.mrnaCoord_3=1814;refseq.name2_1=ARHGAP6;refseq.name2_2=ARHGAP6;refseq.name2_3=ARHGAP6;refseq.name_1=NM_006125;refseq.name_2=NM_013423;refseq.name_3=NM_013427;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S314F;refseq.proteinCoordStr_2=p.S111F;refseq.proteinCoordStr_3=p.S314F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=121;refseq.spliceDist_2=121;refseq.spliceDist_3=121;refseq.start_1=11116905;refseq.start_2=11116905;refseq.start_3=11116905;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;set=FilteredInAll GT 1/0 chrX 12834747 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=98.87;MQ0=0;OQ=2016.89;QD=11.46;RankSumP=0.259235;SB=-1019.04;SecondBestBaseQ=32;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.1A>G;refseq.codonCoord_2=1;refseq.end_1=12836245;refseq.end_2=12834747;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=88;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.M1V;refseq.referenceAA_2=Met;refseq.referenceCodon_2=ATG;refseq.spliceDist_2=-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=12834302;refseq.start_2=12834747;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Val;refseq.variantCodon_2=GTG;set=Intersection GT 0/1 chrX 12847434 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.04;MQ0=0;OQ=648.33;QD=12.01;RankSumP=0.446247;SB=-208.19;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.354C>T;refseq.codonCoord_2=118;refseq.end_1=12870247;refseq.end_2=12847434;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=441;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D118D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAC;refseq.spliceDist_2=351;refseq.start_1=12836384;refseq.start_2=12847434;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 0/1 chrX 12847725 . C T 248.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=454;Dels=0.00;HRun=0;HaplotypeScore=6.54;MQ=98.93;MQ0=0;OQ=8598.63;QD=18.94;RankSumP=0.491811;SB=-3612.61;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.645C>T;refseq.codonCoord_2=215;refseq.end_1=12870247;refseq.end_2=12847725;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=732;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.H215H;refseq.referenceAA_2=His;refseq.referenceCodon_2=CAC;refseq.spliceDist_2=642;refseq.start_1=12836384;refseq.start_2=12847725;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=His;refseq.variantCodon_2=CAT;set=Intersection GT 0/1 chrX 12849033 . G C 283.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=9.16;MQ=98.86;MQ0=0;OQ=8432.63;QD=22.91;RankSumP=0.163578;SB=-2935.21;SecondBestBaseQ=33;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.1953G>C;refseq.codonCoord_2=651;refseq.end_1=12870247;refseq.end_2=12849033;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2040;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.L651L;refseq.referenceAA_2=Leu;refseq.referenceCodon_2=CTG;refseq.spliceDist_2=1950;refseq.start_1=12836384;refseq.start_2=12849033;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Leu;refseq.variantCodon_2=CTC;set=Intersection GT 0/1 chrX 12849333 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=365;Dels=0.00;HRun=2;HaplotypeScore=10.41;MQ=98.93;MQ0=0;OQ=6472.83;QD=17.73;RankSumP=1.67454e-08;SB=-2349.95;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2253C>A;refseq.codonCoord_2=751;refseq.end_1=12870247;refseq.end_2=12849333;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2340;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.I751I;refseq.referenceAA_2=Ile;refseq.referenceCodon_2=ATC;refseq.spliceDist_2=-1875;refseq.start_1=12836384;refseq.start_2=12849333;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ile;refseq.variantCodon_2=ATA;set=filterInsoap-gatk GT 1/0 chrX 12849849 . T C 83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=247;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=98.75;MQ0=0;OQ=10317.49;QD=41.77;RankSumP=1.00000;SB=-3711.15;SecondBestBaseQ=0;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2769T>C;refseq.codonCoord_2=923;refseq.end_1=12870247;refseq.end_2=12849849;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2856;refseq.name2_1=LOC349408;refseq.name2_2=TLR8;refseq.name_1=NR_030727;refseq.name_2=NM_138636;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.D923D;refseq.referenceAA_2=Asp;refseq.referenceCodon_2=GAT;refseq.spliceDist_2=-1359;refseq.start_1=12836384;refseq.start_2=12849849;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=+;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chrX 13517681 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.160A>G;refseq.codingCoordStr_2=c.160A>G;refseq.codonCoord_1=54;refseq.codonCoord_2=54;refseq.end_1=13517681;refseq.end_2=13517681;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=447;refseq.mrnaCoord_2=447;refseq.name2_1=EGFL6;refseq.name2_2=EGFL6;refseq.name_1=NM_001167890;refseq.name_2=NM_015507;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R54G;refseq.proteinCoordStr_2=p.R54G;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.start_1=13517681;refseq.start_2=13517681;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chrX 14509278 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.323C>G;refseq.codingCoordStr_2=c.323C>G;refseq.codingCoordStr_3=c.56C>G;refseq.codingCoordStr_4=c.323C>G;refseq.codonCoord_1=108;refseq.codonCoord_2=108;refseq.codonCoord_3=19;refseq.codonCoord_4=108;refseq.end_1=14509278;refseq.end_2=14509278;refseq.end_3=14509278;refseq.end_4=14509278;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=655;refseq.mrnaCoord_2=1083;refseq.mrnaCoord_3=822;refseq.mrnaCoord_4=1083;refseq.name2_1=GLRA2;refseq.name2_2=GLRA2;refseq.name2_3=GLRA2;refseq.name2_4=GLRA2;refseq.name_1=NM_001118885;refseq.name_2=NM_001118886;refseq.name_3=NM_001171942;refseq.name_4=NM_002063;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A108G;refseq.proteinCoordStr_2=p.A108G;refseq.proteinCoordStr_3=p.A19G;refseq.proteinCoordStr_4=p.A108G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.referenceCodon_4=GCG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.spliceDist_4=53;refseq.start_1=14509278;refseq.start_2=14509278;refseq.start_3=14509278;refseq.start_4=14509278;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;refseq.variantCodon_4=GGG;set=FilteredInAll GT 1/0 chrX 15259919 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=346;Dels=0.00;HRun=1;HaplotypeScore=2.74;MQ=98.67;MQ0=0;OQ=6019.39;QD=17.40;RankSumP=0.390892;SB=-2485.39;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.55C>T;refseq.codingCoordStr_2=c.-233C>T;refseq.codonCoord_1=19;refseq.end_1=15259919;refseq.end_2=15259919;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=155;refseq.mrnaCoord_2=155;refseq.name2_1=PIGA;refseq.name2_2=PIGA;refseq.name_1=NM_002641;refseq.name_2=NM_020473;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.R19W;refseq.referenceAA_1=Arg;refseq.referenceCodon_1=CGG;refseq.spliceDist_1=117;refseq.spliceDist_2=-3;refseq.spliceInfo_2=splice-donor_-3;refseq.start_1=15259919;refseq.start_2=15259919;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantCodon_1=TGG;set=Intersection GT 1/0 chrX 15325504 . C T 114.38 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=430;Dels=0.00;HRun=1;HaplotypeScore=10.15;MQ=98.90;MQ0=0;OQ=18609.16;QD=43.28;RankSumP=1.00000;SB=-5929.18;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.681G>A;refseq.codingCoordStr_2=c.681G>A;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.end_1=15325504;refseq.end_2=15325504;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=885;refseq.mrnaCoord_2=919;refseq.name2_1=PIR;refseq.name2_2=PIR;refseq.name_1=NM_001018109;refseq.name_2=NM_003662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q227Q;refseq.proteinCoordStr_2=p.Q227Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-13;refseq.spliceDist_2=-13;refseq.start_1=15325504;refseq.start_2=15325504;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chrX 15702357 . G A 11 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.471G>A;refseq.codonCoord=157;refseq.end=15702357;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_007220;refseq.name2=CA5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.V157V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=12;refseq.start=15702357;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 1/0 chrX 15702365 . A G 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.479A>G;refseq.codonCoord=160;refseq.end=15702365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=596;refseq.name=NM_007220;refseq.name2=CA5B;refseq.positionType=CDS;refseq.proteinCoordStr=p.N160S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=20;refseq.start=15702365;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 0/1 chrX 15748287 . C T 202.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=364;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=93.39;MQ0=2;OQ=15227.66;QD=41.83;RankSumP=1.00000;SB=-5656.28;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.864C>T;refseq.codonCoord=288;refseq.end=15748287;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=909;refseq.name=NM_005089;refseq.name2=ZRSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.N288N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=37;refseq.start=15748287;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=Intersection GT 1/1 chrX 15751236 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.10859e-06;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1399A>G;refseq.codonCoord=467;refseq.end=15751236;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1444;refseq.name=NM_005089;refseq.name2=ZRSR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R467G;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-68;refseq.start=15751236;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 16714566 . G T 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.35G>T;refseq.codingCoordStr_2=c.35G>T;refseq.codonCoord_1=12;refseq.codonCoord_2=12;refseq.end_1=16714566;refseq.end_2=16714566;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=91;refseq.mrnaCoord_2=91;refseq.name2_1=CXorf15;refseq.name2_2=CXorf15;refseq.name_1=NM_001168683;refseq.name_2=NM_018360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R12I;refseq.proteinCoordStr_2=p.R12I;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-68;refseq.spliceDist_2=-68;refseq.start_1=16714566;refseq.start_2=16714566;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=FilteredInAll GT 1/1 chrX 16769549 . G A 203.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=98.82;MQ0=0;OQ=6283.78;QD=21.30;RankSumP=0.392928;SB=-2185.50;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.930G>A;refseq.codingCoordStr_2=c.1326G>A;refseq.codonCoord_1=310;refseq.codonCoord_2=442;refseq.end_1=16769549;refseq.end_2=16769549;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=986;refseq.mrnaCoord_2=1382;refseq.name2_1=CXorf15;refseq.name2_2=CXorf15;refseq.name_1=NM_001168683;refseq.name_2=NM_018360;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q310Q;refseq.proteinCoordStr_2=p.Q442Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=78;refseq.spliceDist_2=78;refseq.start_1=16769549;refseq.start_2=16769549;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chrX 17615861 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.113T>C;refseq.codingCoordStr_2=c.644T>C;refseq.codonCoord_1=38;refseq.codonCoord_2=215;refseq.end_1=17615861;refseq.end_2=17615861;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=387;refseq.mrnaCoord_2=982;refseq.name2_1=NHS;refseq.name2_2=NHS;refseq.name_1=NM_001136024;refseq.name_2=NM_198270;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L38P;refseq.proteinCoordStr_2=p.L215P;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-75;refseq.spliceDist_2=-75;refseq.start_1=17615861;refseq.start_2=17615861;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 17677971 . G T 39.59 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=130;Dels=0.00;HRun=2;HaplotypeScore=14.51;MQ=98.17;MQ0=0;QD=0.30;RankSumP=4.26048e-08;SB=137.48;SecondBestBaseQ=15;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.-24G>T;refseq.codingCoordStr_2=c.-24G>T;refseq.codingCoordStr_3=c.340G>T;refseq.codingCoordStr_4=c.259G>T;refseq.codonCoord_3=114;refseq.codonCoord_4=87;refseq.end_1=17677971;refseq.end_2=17677971;refseq.end_3=17677971;refseq.end_4=17677971;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=435;refseq.mrnaCoord_2=432;refseq.mrnaCoord_3=665;refseq.mrnaCoord_4=584;refseq.name2_1=SCML1;refseq.name2_2=SCML1;refseq.name2_3=SCML1;refseq.name2_4=SCML1;refseq.name_1=NM_001037535;refseq.name_2=NM_001037536;refseq.name_3=NM_001037540;refseq.name_4=NM_006746;refseq.numMatchingRecords=4;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.V114F;refseq.proteinCoordStr_4=p.V87F;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=37;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=17677971;refseq.start_2=17677971;refseq.start_3=17677971;refseq.start_4=17677971;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=FilteredInAll GT 0/1 chrX 17729298 . T C 240.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.77;MQ0=0;OQ=2429.80;QD=38.57;RankSumP=1.00000;SB=-279.77;SecondBestBaseQ=0;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.codingCoordStr_3=c.604A>G;refseq.codingCoordStr_4=c.754A>G;refseq.codingCoordStr_5=c.754A>G;refseq.codingCoordStr_6=c.754A>G;refseq.codonCoord_3=202;refseq.codonCoord_4=252;refseq.codonCoord_5=252;refseq.codonCoord_6=252;refseq.end_1=17729298;refseq.end_2=17729298;refseq.end_3=17729298;refseq.end_4=17729298;refseq.end_5=17729298;refseq.end_6=17729298;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=1291;refseq.mrnaCoord_2=1097;refseq.mrnaCoord_3=868;refseq.mrnaCoord_4=1212;refseq.mrnaCoord_5=1215;refseq.mrnaCoord_6=1018;refseq.name2_1=RAI2;refseq.name2_2=RAI2;refseq.name2_3=RAI2;refseq.name2_4=RAI2;refseq.name2_5=RAI2;refseq.name2_6=RAI2;refseq.name_1=NR_033348;refseq.name_2=NR_033349;refseq.name_3=NM_001172732;refseq.name_4=NM_001172739;refseq.name_5=NM_001172743;refseq.name_6=NM_021785;refseq.numMatchingRecords=6;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_3=p.M202V;refseq.proteinCoordStr_4=p.M252V;refseq.proteinCoordStr_5=p.M252V;refseq.proteinCoordStr_6=p.M252V;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceAA_5=Met;refseq.referenceAA_6=Met;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.referenceCodon_5=ATG;refseq.referenceCodon_6=ATG;refseq.spliceDist_1=778;refseq.spliceDist_2=778;refseq.spliceDist_3=469;refseq.spliceDist_4=778;refseq.spliceDist_5=778;refseq.spliceDist_6=778;refseq.start_1=17729298;refseq.start_2=17729298;refseq.start_3=17729298;refseq.start_4=17729298;refseq.start_5=17729298;refseq.start_6=17729298;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantAA_5=Val;refseq.variantAA_6=Val;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;refseq.variantCodon_5=GTG;refseq.variantCodon_6=GTG;set=Intersection GT 1/1 chrX 18140636 . A C 350.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=384;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=98.69;MQ0=0;OQ=7811.96;QD=20.34;RankSumP=0.280737;SB=-1866.21;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.462T>G;refseq.codonCoord=154;refseq.end=18140636;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=616;refseq.name=NM_153346;refseq.name2=BEND2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F154L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-31;refseq.start=18140636;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chrX 18825301 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=4;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.3183T>G;refseq.codonCoord=1061;refseq.end=18825301;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3613;refseq.name=NM_000292;refseq.name2=PHKA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G1061G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=72;refseq.start=18825301;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 18934113 . G C 0.02 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=158;Dels=0.00;HRun=1;HaplotypeScore=15.08;MQ=98.04;MQ0=0;OQ=145.27;QD=0.92;RankSumP=0.00000;SB=221.79;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1767C>G;refseq.codingCoordStr_2=c.1725C>G;refseq.codingCoordStr_3=c.1701C>G;refseq.codingCoordStr_4=c.1758C>G;refseq.codonCoord_1=589;refseq.codonCoord_2=575;refseq.codonCoord_3=567;refseq.codonCoord_4=586;refseq.end_1=18934113;refseq.end_2=18934113;refseq.end_3=18934113;refseq.end_4=18934113;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1931;refseq.mrnaCoord_2=1889;refseq.mrnaCoord_3=1865;refseq.mrnaCoord_4=1922;refseq.name2_1=GPR64;refseq.name2_2=GPR64;refseq.name2_3=GPR64;refseq.name2_4=GPR64;refseq.name_1=NM_001079858;refseq.name_2=NM_001079859;refseq.name_3=NM_001079860;refseq.name_4=NM_005756;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C589W;refseq.proteinCoordStr_2=p.C575W;refseq.proteinCoordStr_3=p.C567W;refseq.proteinCoordStr_4=p.C586W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=32;refseq.spliceDist_2=32;refseq.spliceDist_3=32;refseq.spliceDist_4=32;refseq.start_1=18934113;refseq.start_2=18934113;refseq.start_3=18934113;refseq.start_4=18934113;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantAA_3=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;refseq.variantCodon_3=TGG;refseq.variantCodon_4=TGG;set=FilteredInAll GT 0/1 chrX 19308260 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=4;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2488G>C;refseq.codonCoord=830;refseq.end=19308260;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2488;refseq.name=NM_001001671;refseq.name2=MAP3K15;refseq.positionType=CDS;refseq.proteinCoordStr=p.A830P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=57;refseq.start=19308260;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 19516795 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1074T>C;refseq.codingCoordStr_2=c.1185T>C;refseq.codonCoord_1=358;refseq.codonCoord_2=395;refseq.end_1=19516795;refseq.end_2=19516795;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1189;refseq.mrnaCoord_2=1501;refseq.name2_1=SH3KBP1;refseq.name2_2=SH3KBP1;refseq.name_1=NM_001024666;refseq.name_2=NM_031892;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V358V;refseq.proteinCoordStr_2=p.V395V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.start_1=19516795;refseq.start_2=19516795;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 0/1 chrX 21360662 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=50;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=98.67;MQ0=0;OQ=62.41;QD=1.25;RankSumP=5.30822e-07;SB=17.09;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.240G>T;refseq.codingCoordStr_2=c.240G>T;refseq.codingCoordStr_3=c.240G>T;refseq.codingCoordStr_4=c.240G>T;refseq.codonCoord_1=80;refseq.codonCoord_2=80;refseq.codonCoord_3=80;refseq.codonCoord_4=80;refseq.end_1=21360662;refseq.end_2=21360662;refseq.end_3=21360662;refseq.end_4=21360662;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=720;refseq.mrnaCoord_2=720;refseq.mrnaCoord_3=720;refseq.mrnaCoord_4=720;refseq.name2_1=CNKSR2;refseq.name2_2=CNKSR2;refseq.name2_3=CNKSR2;refseq.name2_4=CNKSR2;refseq.name_1=NM_001168647;refseq.name_2=NM_001168648;refseq.name_3=NM_001168649;refseq.name_4=NM_014927;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.L80F;refseq.proteinCoordStr_2=p.L80F;refseq.proteinCoordStr_3=p.L80F;refseq.proteinCoordStr_4=p.L80F;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceAA_3=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_1=TTG;refseq.referenceCodon_2=TTG;refseq.referenceCodon_3=TTG;refseq.referenceCodon_4=TTG;refseq.spliceDist_1=12;refseq.spliceDist_2=12;refseq.spliceDist_3=12;refseq.spliceDist_4=12;refseq.start_1=21360662;refseq.start_2=21360662;refseq.start_3=21360662;refseq.start_4=21360662;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;refseq.variantCodon_4=TTT;set=FilteredInAll GT 0/1 chrX 21585208 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00149837;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.620A>G;refseq.codonCoord=207;refseq.end=21585208;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1162;refseq.name=NM_153270;refseq.name2=KLHL34;refseq.positionType=CDS;refseq.proteinCoordStr=p.E207G;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=1162;refseq.start=21585208;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 21771355 . A G 334.59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=459;Dels=0.00;HRun=0;HaplotypeScore=12.76;MQ=98.63;MQ0=0;OQ=8943.07;QD=19.48;RankSumP=0.0232559;SB=-2702.68;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.222A>G;refseq.codonCoord=74;refseq.end=21771355;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=419;refseq.name=NM_015884;refseq.name2=MBTPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q74Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-3;refseq.spliceInfo=splice-donor_-3;refseq.start=21771355;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chrX 21810616 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=312;Dels=0.00;HRun=5;HaplotypeScore=4.63;MQ=98.80;MQ0=0;OQ=6018.99;QD=19.29;RankSumP=0.197593;SB=-1112.34;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1482G>T;refseq.codonCoord=494;refseq.end=21810616;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1679;refseq.name=NM_015884;refseq.name2=MBTPS2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G494G;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=145;refseq.start=21810616;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=soap-filterIngatk GT 0/1 chrX 21895357 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chrX;refseq.codingCoordStr=c.170+2;refseq.end=21895357;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=false;refseq.name=NM_004595;refseq.name2=SMS;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=21895357;refseq.transcriptStrand=+;set=FilteredInAll GT 1/0 chrX 23262927 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=7.28981e-11;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.14T>G;refseq.codonCoord=5;refseq.end=23262927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=22;refseq.name=NM_173495;refseq.name2=PTCHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V5G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=22;refseq.start=23262927;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 23308135 . T C 387.07 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.84;MQ0=0;OQ=6822.60;QD=40.85;RankSumP=1.00000;SB=-3314.01;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.858T>C;refseq.codonCoord=286;refseq.end=23308135;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=866;refseq.name=NM_173495;refseq.name2=PTCHD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C286C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=-155;refseq.start=23308135;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/1 chrX 23711409 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=3;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.20G>C;refseq.codonCoord_2=7;refseq.end_1=23711409;refseq.end_2=23711409;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=214;refseq.mrnaCoord_2=214;refseq.name2_1=SAT1;refseq.name2_2=SAT1;refseq.name_1=NR_027783;refseq.name_2=NM_002970;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R7P;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=23711409;refseq.start_2=23711409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 0/1 chrX 23838410 . C T 86 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=2;HaplotypeScore=8.43;MQ=98.83;MQ0=0;OQ=9944.70;QD=43.62;RankSumP=1.00000;SB=-4352.48;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.70C>T;refseq.codingCoordStr_2=c.70C>T;refseq.codonCoord_1=24;refseq.codonCoord_2=24;refseq.end_1=23838410;refseq.end_2=23838410;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=414;refseq.mrnaCoord_2=414;refseq.name2_1=CXorf58;refseq.name2_2=CXorf58;refseq.name_1=NM_001169574;refseq.name_2=NM_152761;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R24C;refseq.proteinCoordStr_2=p.R24C;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.spliceDist_1=-47;refseq.spliceDist_2=-47;refseq.start_1=23838410;refseq.start_2=23838410;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/1 chrX 23983682 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=337;Dels=0.00;HRun=0;HaplotypeScore=58.30;MQ=97.09;MQ0=0;OQ=3935.54;QD=11.68;RankSumP=0.266328;SB=-405.15;SecondBestBaseQ=25;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.99C>T;refseq.codonCoord=33;refseq.end=23983682;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=120;refseq.name=NM_001415;refseq.name2=EIF2S3;refseq.positionType=CDS;refseq.proteinCoordStr=p.H33H;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=30;refseq.start=23983682;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chrX 23983698 . C A 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=341;Dels=0.00;HRun=2;HaplotypeScore=36.90;MQ=97.25;MQ0=0;OQ=787.67;QD=2.31;RankSumP=0.00000;SB=453.53;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.115C>A;refseq.codonCoord=39;refseq.end=23983698;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=136;refseq.name=NM_001415;refseq.name2=EIF2S3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q39K;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=-19;refseq.start=23983698;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chrX 26067141 . C T 102.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=9.22;MQ=98.88;MQ0=0;OQ=4667.45;QD=26.08;RankSumP=0.0321444;SB=-1704.32;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.118C>T;refseq.codonCoord=40;refseq.end=26067141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=305;refseq.name=NM_173699;refseq.name2=MAGEB18;refseq.positionType=CDS;refseq.proteinCoordStr=p.P40S;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=180;refseq.start=26067141;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chrX 26067713 . C T 225.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=98.63;MQ0=0;OQ=1679.23;QD=18.25;RankSumP=0.300083;SB=-290.15;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.690C>T;refseq.codonCoord=230;refseq.end=26067713;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=877;refseq.name=NM_173699;refseq.name2=MAGEB18;refseq.positionType=CDS;refseq.proteinCoordStr=p.A230A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-379;refseq.start=26067713;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chrX 26067841 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=179;Dels=0.00;HRun=0;HaplotypeScore=9.40;MQ=98.76;MQ0=0;OQ=237.70;QD=1.33;RankSumP=0.340249;SB=-18.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.818C>T;refseq.codonCoord=273;refseq.end=26067841;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1005;refseq.name=NM_173699;refseq.name2=MAGEB18;refseq.positionType=CDS;refseq.proteinCoordStr=p.P273L;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=-251;refseq.start=26067841;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=soap-filterIngatk GT 0/1 chrX 26067953 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=119;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=98.92;MQ0=0;OQ=1723.79;QD=14.49;RankSumP=0.376378;SB=-521.89;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.930G>A;refseq.codonCoord=310;refseq.end=26067953;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_173699;refseq.name2=MAGEB18;refseq.positionType=CDS;refseq.proteinCoordStr=p.E310E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=-139;refseq.start=26067953;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chrX 26122924 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1040T>G;refseq.codonCoord=347;refseq.end=26122924;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1189;refseq.name=NM_173523;refseq.name2=MAGEB6;refseq.positionType=CDS;refseq.proteinCoordStr=p.V347G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-761;refseq.start=26122924;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 27749493 . T C 127.42 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=191;Dels=0.00;HRun=2;HaplotypeScore=3.58;MQ=98.61;MQ0=0;OQ=3980.99;QD=20.84;RankSumP=0.248465;SB=-1452.65;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.149T>C;refseq.codonCoord=50;refseq.end=27749493;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=376;refseq.name=NM_182506;refseq.name2=MAGEB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.F50S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=198;refseq.start=27749493;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chrX 27749538 . G A 346.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=98.25;MQ0=0;OQ=3174.91;QD=18.04;RankSumP=0.326104;SB=-1403.06;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.194G>A;refseq.codonCoord=65;refseq.end=27749538;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=421;refseq.name=NM_182506;refseq.name2=MAGEB10;refseq.positionType=CDS;refseq.proteinCoordStr=p.R65Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=243;refseq.start=27749538;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chrX 27907833 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1540A>C;refseq.codonCoord=514;refseq.end=27907833;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1655;refseq.name=NM_001017930;refseq.name2=DCAF8L1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T514P;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1655;refseq.start=27907833;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chrX 30146799 . G A 48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=25;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.55;MQ0=0;OQ=714.59;QD=28.58;RankSumP=1.00000;SB=-186.68;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.181G>A;refseq.codonCoord=61;refseq.end=30146799;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=284;refseq.name=NM_002364;refseq.name2=MAGEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.E61K;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=186;refseq.start=30146799;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/1 chrX 30146834 . G A 39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.81;MQ=98.13;MQ0=0;OQ=91.38;QD=7.03;RankSumP=0.733333;SB=-41.65;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.216G>A;refseq.codonCoord=72;refseq.end=30146834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=319;refseq.name=NM_002364;refseq.name2=MAGEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A72A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=221;refseq.start=30146834;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/0 chrX 30146924 . C T 158.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=98.49;MQ0=0;OQ=1176.13;QD=14.00;RankSumP=0.459805;SB=-285.14;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.306C>T;refseq.codonCoord=102;refseq.end=30146924;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_002364;refseq.name2=MAGEB2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=311;refseq.start=30146924;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 0/1 chrX 30164282 . G A 251.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=98.93;MQ0=0;OQ=1994.63;QD=16.35;RankSumP=0.380856;SB=-556.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.320G>A;refseq.codonCoord=107;refseq.end=30164282;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1057;refseq.name=NM_002365;refseq.name2=MAGEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.R107H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=381;refseq.start=30164282;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/0 chrX 30164297 . T C 265.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=98.95;MQ0=0;OQ=6906.18;QD=40.86;RankSumP=1.00000;SB=-2464.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.335T>C;refseq.codonCoord=112;refseq.end=30164297;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1072;refseq.name=NM_002365;refseq.name2=MAGEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.I112T;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=396;refseq.start=30164297;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chrX 30164451 . A G 296.63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=323;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=98.93;MQ0=0;OQ=6287.54;QD=19.47;RankSumP=0.0251123;SB=-2517.32;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.489A>G;refseq.codonCoord=163;refseq.end=30164451;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1226;refseq.name=NM_002365;refseq.name2=MAGEB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V163V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=550;refseq.start=30164451;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chrX 30170923 . A G 316.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=5.19;MQ=98.80;MQ0=0;OQ=8115.05;QD=41.62;RankSumP=1.00000;SB=-3929.52;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.750A>G;refseq.codonCoord=250;refseq.end=30170923;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=946;refseq.name=NM_002367;refseq.name2=MAGEB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.V250V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=946;refseq.start=30170923;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chrX 30171079 . G C 102.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=299;Dels=0.00;HRun=1;HaplotypeScore=1.87;MQ=98.87;MQ0=0;OQ=14381.59;QD=48.10;RankSumP=1.00000;SB=-5245.06;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.906G>C;refseq.codonCoord=302;refseq.end=30171079;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1102;refseq.name=NM_002367;refseq.name2=MAGEB4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L302L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1102;refseq.start=30171079;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chrX 30487767 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=773;Dels=0.00;HRun=0;HaplotypeScore=16.23;MQ=98.69;MQ0=0;OQ=15619.48;QD=20.21;RankSumP=0.161601;SB=-6270.12;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.627T>G;refseq.codonCoord=209;refseq.end=30487767;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_025159;refseq.name2=CXorf21;refseq.positionType=CDS;refseq.proteinCoordStr=p.V209V;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=628;refseq.start=30487767;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chrX 30782523 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=793;Dels=0.00;HRun=0;HaplotypeScore=12.41;MQ=98.74;MQ0=0;OQ=30146.88;QD=38.02;RankSumP=1.00000;SB=-13506.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1180T>C;refseq.codonCoord=394;refseq.end=30782523;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1843;refseq.name=NM_152787;refseq.name2=TAB3;refseq.positionType=CDS;refseq.proteinCoordStr=p.W394R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-370;refseq.start=30782523;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=Intersection GT 1/1 chrX 30999927 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.65A>C;refseq.codonCoord=22;refseq.end=30999927;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=165;refseq.name=NM_031894;refseq.name2=FTHL17;refseq.positionType=CDS;refseq.proteinCoordStr=p.N22T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=165;refseq.start=30999927;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chrX 31110842 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_14=true;refseq.changesAA_15=true;refseq.changesAA_16=true;refseq.changesAA_17=true;refseq.changesAA_18=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chrX;refseq.chr_10=chrX;refseq.chr_11=chrX;refseq.chr_12=chrX;refseq.chr_13=chrX;refseq.chr_14=chrX;refseq.chr_15=chrX;refseq.chr_16=chrX;refseq.chr_17=chrX;refseq.chr_18=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.chr_9=chrX;refseq.codingCoordStr_1=c.9884C>G;refseq.codingCoordStr_10=c.704C>G;refseq.codingCoordStr_11=c.704C>G;refseq.codingCoordStr_12=c.704C>G;refseq.codingCoordStr_13=c.704C>G;refseq.codingCoordStr_14=c.704C>G;refseq.codingCoordStr_15=c.2528C>G;refseq.codingCoordStr_16=c.2528C>G;refseq.codingCoordStr_17=c.2528C>G;refseq.codingCoordStr_18=c.2528C>G;refseq.codingCoordStr_2=c.9908C>G;refseq.codingCoordStr_3=c.9539C>G;refseq.codingCoordStr_4=c.9896C>G;refseq.codingCoordStr_5=c.9539C>G;refseq.codingCoordStr_6=c.5885C>G;refseq.codingCoordStr_7=c.5876C>G;refseq.codingCoordStr_8=c.2528C>G;refseq.codingCoordStr_9=c.1721C>G;refseq.codonCoord_1=3295;refseq.codonCoord_10=235;refseq.codonCoord_11=235;refseq.codonCoord_12=235;refseq.codonCoord_13=235;refseq.codonCoord_14=235;refseq.codonCoord_15=843;refseq.codonCoord_16=843;refseq.codonCoord_17=843;refseq.codonCoord_18=843;refseq.codonCoord_2=3303;refseq.codonCoord_3=3180;refseq.codonCoord_4=3299;refseq.codonCoord_5=3180;refseq.codonCoord_6=1962;refseq.codonCoord_7=1959;refseq.codonCoord_8=843;refseq.codonCoord_9=574;refseq.end_1=31110842;refseq.end_10=31110842;refseq.end_11=31110842;refseq.end_12=31110842;refseq.end_13=31110842;refseq.end_14=31110842;refseq.end_15=31110842;refseq.end_16=31110842;refseq.end_17=31110842;refseq.end_18=31110842;refseq.end_2=31110842;refseq.end_3=31110842;refseq.end_4=31110842;refseq.end_5=31110842;refseq.end_6=31110842;refseq.end_7=31110842;refseq.end_8=31110842;refseq.end_9=31110842;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_14=1;refseq.frame_15=1;refseq.frame_16=1;refseq.frame_17=1;refseq.frame_18=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_14=missense;refseq.functionalClass_15=missense;refseq.functionalClass_16=missense;refseq.functionalClass_17=missense;refseq.functionalClass_18=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_10=C;refseq.haplotypeAlternate_11=C;refseq.haplotypeAlternate_12=C;refseq.haplotypeAlternate_13=C;refseq.haplotypeAlternate_14=C;refseq.haplotypeAlternate_15=C;refseq.haplotypeAlternate_16=C;refseq.haplotypeAlternate_17=C;refseq.haplotypeAlternate_18=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeAlternate_9=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_10=G;refseq.haplotypeReference_11=G;refseq.haplotypeReference_12=G;refseq.haplotypeReference_13=G;refseq.haplotypeReference_14=G;refseq.haplotypeReference_15=G;refseq.haplotypeReference_16=G;refseq.haplotypeReference_17=G;refseq.haplotypeReference_18=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.haplotypeReference_9=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_14=true;refseq.inCodingRegion_15=true;refseq.inCodingRegion_16=true;refseq.inCodingRegion_17=true;refseq.inCodingRegion_18=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=10228;refseq.mrnaCoord_10=782;refseq.mrnaCoord_11=782;refseq.mrnaCoord_12=782;refseq.mrnaCoord_13=782;refseq.mrnaCoord_14=782;refseq.mrnaCoord_15=3569;refseq.mrnaCoord_16=3569;refseq.mrnaCoord_17=3569;refseq.mrnaCoord_18=3569;refseq.mrnaCoord_2=10152;refseq.mrnaCoord_3=9877;refseq.mrnaCoord_4=10159;refseq.mrnaCoord_5=10242;refseq.mrnaCoord_6=5930;refseq.mrnaCoord_7=6073;refseq.mrnaCoord_8=3569;refseq.mrnaCoord_9=1782;refseq.name2_1=DMD;refseq.name2_10=DMD;refseq.name2_11=DMD;refseq.name2_12=DMD;refseq.name2_13=DMD;refseq.name2_14=DMD;refseq.name2_15=DMD;refseq.name2_16=DMD;refseq.name2_17=DMD;refseq.name2_18=DMD;refseq.name2_2=DMD;refseq.name2_3=DMD;refseq.name2_4=DMD;refseq.name2_5=DMD;refseq.name2_6=DMD;refseq.name2_7=DMD;refseq.name2_8=DMD;refseq.name2_9=DMD;refseq.name_1=NM_000109;refseq.name_10=NM_004015;refseq.name_11=NM_004016;refseq.name_12=NM_004017;refseq.name_13=NM_004018;refseq.name_14=NM_004019;refseq.name_15=NM_004020;refseq.name_16=NM_004021;refseq.name_17=NM_004022;refseq.name_18=NM_004023;refseq.name_2=NM_004006;refseq.name_3=NM_004007;refseq.name_4=NM_004009;refseq.name_5=NM_004010;refseq.name_6=NM_004011;refseq.name_7=NM_004012;refseq.name_8=NM_004013;refseq.name_9=NM_004014;refseq.numMatchingRecords=18;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_14=CDS;refseq.positionType_15=CDS;refseq.positionType_16=CDS;refseq.positionType_17=CDS;refseq.positionType_18=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.A3295G;refseq.proteinCoordStr_10=p.A235G;refseq.proteinCoordStr_11=p.A235G;refseq.proteinCoordStr_12=p.A235G;refseq.proteinCoordStr_13=p.A235G;refseq.proteinCoordStr_14=p.A235G;refseq.proteinCoordStr_15=p.A843G;refseq.proteinCoordStr_16=p.A843G;refseq.proteinCoordStr_17=p.A843G;refseq.proteinCoordStr_18=p.A843G;refseq.proteinCoordStr_2=p.A3303G;refseq.proteinCoordStr_3=p.A3180G;refseq.proteinCoordStr_4=p.A3299G;refseq.proteinCoordStr_5=p.A3180G;refseq.proteinCoordStr_6=p.A1962G;refseq.proteinCoordStr_7=p.A1959G;refseq.proteinCoordStr_8=p.A843G;refseq.proteinCoordStr_9=p.A574G;refseq.referenceAA_1=Ala;refseq.referenceAA_10=Ala;refseq.referenceAA_11=Ala;refseq.referenceAA_12=Ala;refseq.referenceAA_13=Ala;refseq.referenceAA_14=Ala;refseq.referenceAA_15=Ala;refseq.referenceAA_16=Ala;refseq.referenceAA_17=Ala;refseq.referenceAA_18=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceAA_9=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_10=GCT;refseq.referenceCodon_11=GCT;refseq.referenceCodon_12=GCT;refseq.referenceCodon_13=GCT;refseq.referenceCodon_14=GCT;refseq.referenceCodon_15=GCT;refseq.referenceCodon_16=GCT;refseq.referenceCodon_17=GCT;refseq.referenceCodon_18=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.referenceCodon_9=GCT;refseq.spliceDist_1=-67;refseq.spliceDist_10=-67;refseq.spliceDist_11=-67;refseq.spliceDist_12=-67;refseq.spliceDist_13=-67;refseq.spliceDist_14=-67;refseq.spliceDist_15=-67;refseq.spliceDist_16=-67;refseq.spliceDist_17=-67;refseq.spliceDist_18=-67;refseq.spliceDist_2=-67;refseq.spliceDist_3=-67;refseq.spliceDist_4=-67;refseq.spliceDist_5=-67;refseq.spliceDist_6=-67;refseq.spliceDist_7=-67;refseq.spliceDist_8=-67;refseq.spliceDist_9=-67;refseq.start_1=31110842;refseq.start_10=31110842;refseq.start_11=31110842;refseq.start_12=31110842;refseq.start_13=31110842;refseq.start_14=31110842;refseq.start_15=31110842;refseq.start_16=31110842;refseq.start_17=31110842;refseq.start_18=31110842;refseq.start_2=31110842;refseq.start_3=31110842;refseq.start_4=31110842;refseq.start_5=31110842;refseq.start_6=31110842;refseq.start_7=31110842;refseq.start_8=31110842;refseq.start_9=31110842;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_14=-;refseq.transcriptStrand_15=-;refseq.transcriptStrand_16=-;refseq.transcriptStrand_17=-;refseq.transcriptStrand_18=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Gly;refseq.variantAA_10=Gly;refseq.variantAA_11=Gly;refseq.variantAA_12=Gly;refseq.variantAA_13=Gly;refseq.variantAA_14=Gly;refseq.variantAA_15=Gly;refseq.variantAA_16=Gly;refseq.variantAA_17=Gly;refseq.variantAA_18=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantAA_7=Gly;refseq.variantAA_8=Gly;refseq.variantAA_9=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_10=GGT;refseq.variantCodon_11=GGT;refseq.variantCodon_12=GGT;refseq.variantCodon_13=GGT;refseq.variantCodon_14=GGT;refseq.variantCodon_15=GGT;refseq.variantCodon_16=GGT;refseq.variantCodon_17=GGT;refseq.variantCodon_18=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;refseq.variantCodon_7=GGT;refseq.variantCodon_8=GGT;refseq.variantCodon_9=GGT;set=FilteredInAll GT 0/1 chrX 31406271 . C T 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=15.45;MQ=98.14;MQ0=0;OQ=6233.36;QD=42.12;RankSumP=1.00000;SB=-2623.12;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_10=true;refseq.changesAA_11=true;refseq.changesAA_12=true;refseq.changesAA_13=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.changesAA_9=true;refseq.chr_1=chrX;refseq.chr_10=chrX;refseq.chr_11=chrX;refseq.chr_12=chrX;refseq.chr_13=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.chr_9=chrX;refseq.codingCoordStr_1=c.8786G>A;refseq.codingCoordStr_10=c.1430G>A;refseq.codingCoordStr_11=c.1430G>A;refseq.codingCoordStr_12=c.1430G>A;refseq.codingCoordStr_13=c.1430G>A;refseq.codingCoordStr_2=c.8810G>A;refseq.codingCoordStr_3=c.8441G>A;refseq.codingCoordStr_4=c.8798G>A;refseq.codingCoordStr_5=c.8441G>A;refseq.codingCoordStr_6=c.4787G>A;refseq.codingCoordStr_7=c.4778G>A;refseq.codingCoordStr_8=c.1430G>A;refseq.codingCoordStr_9=c.623G>A;refseq.codonCoord_1=2929;refseq.codonCoord_10=477;refseq.codonCoord_11=477;refseq.codonCoord_12=477;refseq.codonCoord_13=477;refseq.codonCoord_2=2937;refseq.codonCoord_3=2814;refseq.codonCoord_4=2933;refseq.codonCoord_5=2814;refseq.codonCoord_6=1596;refseq.codonCoord_7=1593;refseq.codonCoord_8=477;refseq.codonCoord_9=208;refseq.end_1=31406271;refseq.end_10=31406271;refseq.end_11=31406271;refseq.end_12=31406271;refseq.end_13=31406271;refseq.end_2=31406271;refseq.end_3=31406271;refseq.end_4=31406271;refseq.end_5=31406271;refseq.end_6=31406271;refseq.end_7=31406271;refseq.end_8=31406271;refseq.end_9=31406271;refseq.frame_1=1;refseq.frame_10=1;refseq.frame_11=1;refseq.frame_12=1;refseq.frame_13=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.frame_8=1;refseq.frame_9=1;refseq.functionalClass_1=missense;refseq.functionalClass_10=missense;refseq.functionalClass_11=missense;refseq.functionalClass_12=missense;refseq.functionalClass_13=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.functionalClass_9=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_10=T;refseq.haplotypeAlternate_11=T;refseq.haplotypeAlternate_12=T;refseq.haplotypeAlternate_13=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeAlternate_9=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_10=C;refseq.haplotypeReference_11=C;refseq.haplotypeReference_12=C;refseq.haplotypeReference_13=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.haplotypeReference_8=C;refseq.haplotypeReference_9=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=true;refseq.inCodingRegion_11=true;refseq.inCodingRegion_12=true;refseq.inCodingRegion_13=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.inCodingRegion_9=true;refseq.mrnaCoord_1=9130;refseq.mrnaCoord_10=2471;refseq.mrnaCoord_11=2471;refseq.mrnaCoord_12=2471;refseq.mrnaCoord_13=2471;refseq.mrnaCoord_2=9054;refseq.mrnaCoord_3=8779;refseq.mrnaCoord_4=9061;refseq.mrnaCoord_5=9144;refseq.mrnaCoord_6=4832;refseq.mrnaCoord_7=4975;refseq.mrnaCoord_8=2471;refseq.mrnaCoord_9=684;refseq.name2_1=DMD;refseq.name2_10=DMD;refseq.name2_11=DMD;refseq.name2_12=DMD;refseq.name2_13=DMD;refseq.name2_2=DMD;refseq.name2_3=DMD;refseq.name2_4=DMD;refseq.name2_5=DMD;refseq.name2_6=DMD;refseq.name2_7=DMD;refseq.name2_8=DMD;refseq.name2_9=DMD;refseq.name_1=NM_000109;refseq.name_10=NM_004020;refseq.name_11=NM_004021;refseq.name_12=NM_004022;refseq.name_13=NM_004023;refseq.name_2=NM_004006;refseq.name_3=NM_004007;refseq.name_4=NM_004009;refseq.name_5=NM_004010;refseq.name_6=NM_004011;refseq.name_7=NM_004012;refseq.name_8=NM_004013;refseq.name_9=NM_004014;refseq.numMatchingRecords=13;refseq.positionType_1=CDS;refseq.positionType_10=CDS;refseq.positionType_11=CDS;refseq.positionType_12=CDS;refseq.positionType_13=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.positionType_9=CDS;refseq.proteinCoordStr_1=p.R2929Q;refseq.proteinCoordStr_10=p.R477Q;refseq.proteinCoordStr_11=p.R477Q;refseq.proteinCoordStr_12=p.R477Q;refseq.proteinCoordStr_13=p.R477Q;refseq.proteinCoordStr_2=p.R2937Q;refseq.proteinCoordStr_3=p.R2814Q;refseq.proteinCoordStr_4=p.R2933Q;refseq.proteinCoordStr_5=p.R2814Q;refseq.proteinCoordStr_6=p.R1596Q;refseq.proteinCoordStr_7=p.R1593Q;refseq.proteinCoordStr_8=p.R477Q;refseq.proteinCoordStr_9=p.R208Q;refseq.referenceAA_1=Arg;refseq.referenceAA_10=Arg;refseq.referenceAA_11=Arg;refseq.referenceAA_12=Arg;refseq.referenceAA_13=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceAA_8=Arg;refseq.referenceAA_9=Arg;refseq.referenceCodon_1=CGG;refseq.referenceCodon_10=CGG;refseq.referenceCodon_11=CGG;refseq.referenceCodon_12=CGG;refseq.referenceCodon_13=CGG;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.referenceCodon_4=CGG;refseq.referenceCodon_5=CGG;refseq.referenceCodon_6=CGG;refseq.referenceCodon_7=CGG;refseq.referenceCodon_8=CGG;refseq.referenceCodon_9=CGG;refseq.spliceDist_1=-128;refseq.spliceDist_10=-128;refseq.spliceDist_11=-128;refseq.spliceDist_12=-128;refseq.spliceDist_13=-128;refseq.spliceDist_2=-128;refseq.spliceDist_3=-128;refseq.spliceDist_4=-128;refseq.spliceDist_5=-128;refseq.spliceDist_6=-128;refseq.spliceDist_7=-128;refseq.spliceDist_8=-128;refseq.spliceDist_9=-128;refseq.start_1=31406271;refseq.start_10=31406271;refseq.start_11=31406271;refseq.start_12=31406271;refseq.start_13=31406271;refseq.start_2=31406271;refseq.start_3=31406271;refseq.start_4=31406271;refseq.start_5=31406271;refseq.start_6=31406271;refseq.start_7=31406271;refseq.start_8=31406271;refseq.start_9=31406271;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_13=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Gln;refseq.variantAA_10=Gln;refseq.variantAA_11=Gln;refseq.variantAA_12=Gln;refseq.variantAA_13=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantAA_5=Gln;refseq.variantAA_6=Gln;refseq.variantAA_7=Gln;refseq.variantAA_8=Gln;refseq.variantAA_9=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_10=CAG;refseq.variantCodon_11=CAG;refseq.variantCodon_12=CAG;refseq.variantCodon_13=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;refseq.variantCodon_5=CAG;refseq.variantCodon_6=CAG;refseq.variantCodon_7=CAG;refseq.variantCodon_8=CAG;refseq.variantCodon_9=CAG;set=Intersection GT 1/1 chrX 31764777 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=14;DP=523;Dels=0.00;HRun=2;HaplotypeScore=65.72;MQ=98.37;MQ0=0;OQ=1180.07;QD=2.26;RankSumP=0.00000;SB=591.97;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chrX;refseq.chr_10=chrX;refseq.chr_11=chrX;refseq.chr_12=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.chr_9=chrX;refseq.codingCoordStr_1=c.7155A>C;refseq.codingCoordStr_10=c.-202A>C;refseq.codingCoordStr_11=c.-202A>C;refseq.codingCoordStr_12=c.-202A>C;refseq.codingCoordStr_2=c.7179A>C;refseq.codingCoordStr_3=c.6810A>C;refseq.codingCoordStr_4=c.7167A>C;refseq.codingCoordStr_5=c.6810A>C;refseq.codingCoordStr_6=c.3156A>C;refseq.codingCoordStr_7=c.3147A>C;refseq.codingCoordStr_8=c.-202A>C;refseq.codingCoordStr_9=c.-202A>C;refseq.codonCoord_1=2385;refseq.codonCoord_2=2393;refseq.codonCoord_3=2270;refseq.codonCoord_4=2389;refseq.codonCoord_5=2270;refseq.codonCoord_6=1052;refseq.codonCoord_7=1049;refseq.end_1=31764777;refseq.end_10=31764777;refseq.end_11=31764777;refseq.end_12=31764777;refseq.end_2=31764777;refseq.end_3=31764777;refseq.end_4=31764777;refseq.end_5=31764777;refseq.end_6=31764777;refseq.end_7=31764777;refseq.end_8=31764777;refseq.end_9=31764777;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_10=G;refseq.haplotypeAlternate_11=G;refseq.haplotypeAlternate_12=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;refseq.haplotypeAlternate_7=G;refseq.haplotypeAlternate_8=G;refseq.haplotypeAlternate_9=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_10=T;refseq.haplotypeReference_11=T;refseq.haplotypeReference_12=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.haplotypeReference_9=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_10=false;refseq.inCodingRegion_11=false;refseq.inCodingRegion_12=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=false;refseq.inCodingRegion_9=false;refseq.mrnaCoord_1=7499;refseq.mrnaCoord_10=840;refseq.mrnaCoord_11=840;refseq.mrnaCoord_12=840;refseq.mrnaCoord_2=7423;refseq.mrnaCoord_3=7148;refseq.mrnaCoord_4=7430;refseq.mrnaCoord_5=7513;refseq.mrnaCoord_6=3201;refseq.mrnaCoord_7=3344;refseq.mrnaCoord_8=840;refseq.mrnaCoord_9=840;refseq.name2_1=DMD;refseq.name2_10=DMD;refseq.name2_11=DMD;refseq.name2_12=DMD;refseq.name2_2=DMD;refseq.name2_3=DMD;refseq.name2_4=DMD;refseq.name2_5=DMD;refseq.name2_6=DMD;refseq.name2_7=DMD;refseq.name2_8=DMD;refseq.name2_9=DMD;refseq.name_1=NM_000109;refseq.name_10=NM_004021;refseq.name_11=NM_004022;refseq.name_12=NM_004023;refseq.name_2=NM_004006;refseq.name_3=NM_004007;refseq.name_4=NM_004009;refseq.name_5=NM_004010;refseq.name_6=NM_004011;refseq.name_7=NM_004012;refseq.name_8=NM_004013;refseq.name_9=NM_004020;refseq.numMatchingRecords=12;refseq.positionType_1=CDS;refseq.positionType_10=utr5;refseq.positionType_11=utr5;refseq.positionType_12=utr5;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=utr5;refseq.positionType_9=utr5;refseq.proteinCoordStr_1=p.K2385N;refseq.proteinCoordStr_2=p.K2393N;refseq.proteinCoordStr_3=p.K2270N;refseq.proteinCoordStr_4=p.K2389N;refseq.proteinCoordStr_5=p.K2270N;refseq.proteinCoordStr_6=p.K1052N;refseq.proteinCoordStr_7=p.K1049N;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceAA_5=Lys;refseq.referenceAA_6=Lys;refseq.referenceAA_7=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.referenceCodon_5=AAA;refseq.referenceCodon_6=AAA;refseq.referenceCodon_7=AAA;refseq.spliceDist_1=-22;refseq.spliceDist_10=-22;refseq.spliceDist_11=-22;refseq.spliceDist_12=-22;refseq.spliceDist_2=-22;refseq.spliceDist_3=-22;refseq.spliceDist_4=-22;refseq.spliceDist_5=-22;refseq.spliceDist_6=-22;refseq.spliceDist_7=-22;refseq.spliceDist_8=-22;refseq.spliceDist_9=-22;refseq.start_1=31764777;refseq.start_10=31764777;refseq.start_11=31764777;refseq.start_12=31764777;refseq.start_2=31764777;refseq.start_3=31764777;refseq.start_4=31764777;refseq.start_5=31764777;refseq.start_6=31764777;refseq.start_7=31764777;refseq.start_8=31764777;refseq.start_9=31764777;refseq.transcriptStrand_1=-;refseq.transcriptStrand_10=-;refseq.transcriptStrand_11=-;refseq.transcriptStrand_12=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.transcriptStrand_8=-;refseq.transcriptStrand_9=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantAA_5=Asn;refseq.variantAA_6=Asn;refseq.variantAA_7=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;refseq.variantCodon_5=AAC;refseq.variantCodon_6=AAC;refseq.variantCodon_7=AAC;set=FilteredInAll GT 1/0 chrX 32290917 . C T 278.70 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=11.34;MQ=98.97;MQ0=0;OQ=6114.35;QD=20.11;RankSumP=0.164578;SB=-1084.14;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.codingCoordStr_1=c.5210G>A;refseq.codingCoordStr_2=c.5234G>A;refseq.codingCoordStr_3=c.4865G>A;refseq.codingCoordStr_4=c.5222G>A;refseq.codingCoordStr_5=c.4865G>A;refseq.codingCoordStr_6=c.1211G>A;refseq.codingCoordStr_7=c.1202G>A;refseq.codonCoord_1=1737;refseq.codonCoord_2=1745;refseq.codonCoord_3=1622;refseq.codonCoord_4=1741;refseq.codonCoord_5=1622;refseq.codonCoord_6=404;refseq.codonCoord_7=401;refseq.end_1=32290917;refseq.end_2=32290917;refseq.end_3=32290917;refseq.end_4=32290917;refseq.end_5=32290917;refseq.end_6=32290917;refseq.end_7=32290917;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.frame_7=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.haplotypeReference_5=C;refseq.haplotypeReference_6=C;refseq.haplotypeReference_7=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.mrnaCoord_1=5554;refseq.mrnaCoord_2=5478;refseq.mrnaCoord_3=5203;refseq.mrnaCoord_4=5485;refseq.mrnaCoord_5=5568;refseq.mrnaCoord_6=1256;refseq.mrnaCoord_7=1399;refseq.name2_1=DMD;refseq.name2_2=DMD;refseq.name2_3=DMD;refseq.name2_4=DMD;refseq.name2_5=DMD;refseq.name2_6=DMD;refseq.name2_7=DMD;refseq.name_1=NM_000109;refseq.name_2=NM_004006;refseq.name_3=NM_004007;refseq.name_4=NM_004009;refseq.name_5=NM_004010;refseq.name_6=NM_004011;refseq.name_7=NM_004012;refseq.numMatchingRecords=7;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.proteinCoordStr_1=p.R1737H;refseq.proteinCoordStr_2=p.R1745H;refseq.proteinCoordStr_3=p.R1622H;refseq.proteinCoordStr_4=p.R1741H;refseq.proteinCoordStr_5=p.R1622H;refseq.proteinCoordStr_6=p.R404H;refseq.proteinCoordStr_7=p.R401H;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceAA_5=Arg;refseq.referenceAA_6=Arg;refseq.referenceAA_7=Arg;refseq.referenceCodon_1=CGC;refseq.referenceCodon_2=CGC;refseq.referenceCodon_3=CGC;refseq.referenceCodon_4=CGC;refseq.referenceCodon_5=CGC;refseq.referenceCodon_6=CGC;refseq.referenceCodon_7=CGC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.spliceDist_4=80;refseq.spliceDist_5=80;refseq.spliceDist_6=80;refseq.spliceDist_7=80;refseq.start_1=32290917;refseq.start_2=32290917;refseq.start_3=32290917;refseq.start_4=32290917;refseq.start_5=32290917;refseq.start_6=32290917;refseq.start_7=32290917;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.transcriptStrand_7=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantAA_3=His;refseq.variantAA_4=His;refseq.variantAA_5=His;refseq.variantAA_6=His;refseq.variantAA_7=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;refseq.variantCodon_3=CAC;refseq.variantCodon_4=CAC;refseq.variantCodon_5=CAC;refseq.variantCodon_6=CAC;refseq.variantCodon_7=CAC;set=Intersection GT 0/1 chrX 32413115 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=443;Dels=0.00;HRun=1;HaplotypeScore=11.72;MQ=98.90;MQ0=0;OQ=8701.40;QD=19.64;RankSumP=0.346289;SB=-3673.98;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.codingCoordStr_1=c.2621A>G;refseq.codingCoordStr_2=c.2645A>G;refseq.codingCoordStr_3=c.2276A>G;refseq.codingCoordStr_4=c.2633A>G;refseq.codingCoordStr_5=c.2276A>G;refseq.codonCoord_1=874;refseq.codonCoord_2=882;refseq.codonCoord_3=759;refseq.codonCoord_4=878;refseq.codonCoord_5=759;refseq.end_1=32413115;refseq.end_2=32413115;refseq.end_3=32413115;refseq.end_4=32413115;refseq.end_5=32413115;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=2965;refseq.mrnaCoord_2=2889;refseq.mrnaCoord_3=2614;refseq.mrnaCoord_4=2896;refseq.mrnaCoord_5=2979;refseq.name2_1=DMD;refseq.name2_2=DMD;refseq.name2_3=DMD;refseq.name2_4=DMD;refseq.name2_5=DMD;refseq.name_1=NM_000109;refseq.name_2=NM_004006;refseq.name_3=NM_004007;refseq.name_4=NM_004009;refseq.name_5=NM_004010;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.D874G;refseq.proteinCoordStr_2=p.D882G;refseq.proteinCoordStr_3=p.D759G;refseq.proteinCoordStr_4=p.D878G;refseq.proteinCoordStr_5=p.D759G;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.spliceDist_4=23;refseq.spliceDist_5=23;refseq.start_1=32413115;refseq.start_2=32413115;refseq.start_3=32413115;refseq.start_4=32413115;refseq.start_5=32413115;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=Intersection GT 1/0 chrX 34584891 . C G 89 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=58.23;MQ0=17;OQ=109.79;QD=3.23;RankSumP=0.377185;SB=-70.73;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.177G>C;refseq.codonCoord=59;refseq.end=34584891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=436;refseq.name=NM_031442;refseq.name2=TMEM47;refseq.positionType=CDS;refseq.proteinCoordStr=p.R59R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-50;refseq.start=34584891;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=soap-filterIngatk GT 1/0 chrX 35730346 . C T 127.14 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=98.38;MQ0=0;OQ=1758.78;QD=14.07;RankSumP=0.135459;SB=-514.42;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.112C>T;refseq.codonCoord=38;refseq.end=35730346;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=391;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L38F;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=178;refseq.start=35730346;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chrX 35730617 . G A 218.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.89;MQ0=0;OQ=3036.02;QD=15.49;RankSumP=0.115705;SB=-1249.70;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.383G>A;refseq.codonCoord=128;refseq.end=35730617;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=662;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.C128Y;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=449;refseq.start=35730617;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/0 chrX 35730716 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=588;Dels=0.00;HRun=0;HaplotypeScore=5.15;MQ=98.94;MQ0=0;OQ=8037.02;QD=13.67;RankSumP=0.261794;SB=-3071.06;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.482A>G;refseq.codonCoord=161;refseq.end=35730716;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=761;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.H161R;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=548;refseq.start=35730716;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 0/1 chrX 35730976 . A G 147.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.33;MQ0=0;OQ=2221.27;QD=15.43;RankSumP=0.258188;SB=-1030.29;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.742A>G;refseq.codonCoord=248;refseq.end=35730976;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1021;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M248V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-798;refseq.start=35730976;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 0/1 chrX 35730977 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=143;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=98.32;MQ0=0;OQ=2099.05;QD=14.68;RankSumP=0.266522;SB=-943.99;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.743T>A;refseq.codonCoord=248;refseq.end=35730977;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1022;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.M248K;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-797;refseq.start=35730977;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAG;set=Intersection GT 1/0 chrX 35731048 . C T 302.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=132;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=98.61;MQ0=0;OQ=2322.08;QD=17.59;RankSumP=0.0259751;SB=-1165.13;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.814C>T;refseq.codonCoord=272;refseq.end=35731048;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1093;refseq.name=NM_001099921;refseq.name2=MAGEB16;refseq.positionType=CDS;refseq.proteinCoordStr=p.R272*;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-726;refseq.start=35731048;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 0/1 chrX 35881641 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1058T>G;refseq.codonCoord=353;refseq.end=35881641;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1117;refseq.name=NM_152632;refseq.name2=CXorf22;refseq.positionType=CDS;refseq.proteinCoordStr=p.V353G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=12;refseq.start=35881641;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 37316246 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=2;RankSumP=0.161154;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.204C>G;refseq.codingCoordStr_2=c.204C>G;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=37316246;refseq.end_2=37316246;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=506;refseq.mrnaCoord_2=506;refseq.name2_1=LANCL3;refseq.name2_2=LANCL3;refseq.name_1=NM_001170331;refseq.name_2=NM_198511;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G68G;refseq.proteinCoordStr_2=p.G68G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-370;refseq.spliceDist_2=-370;refseq.start_1=37316246;refseq.start_2=37316246;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 1/0 chrX 38030855 . C T 45 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=68.87;QD=9.84;RankSumP=0.542857;SB=-46.64;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2341G>A;refseq.codonCoord_2=781;refseq.end_1=38031280;refseq.end_2=38030855;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2509;refseq.name2_1=RPGR;refseq.name2_2=RPGR;refseq.name_1=NM_000328;refseq.name_2=NM_001034853;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A781T;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_2=588;refseq.start_1=38020980;refseq.start_2=38030855;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Thr;refseq.variantCodon_2=ACG;set=Intersection GT 0/1 chrX 38111547 . A G 305.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=98.71;MQ0=0;OQ=2578.89;QD=19.99;RankSumP=0.482206;SB=-956.30;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.137A>G;refseq.codonCoord=46;refseq.end=38111547;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=351;refseq.name=NM_000531;refseq.name2=OTC;refseq.positionType=CDS;refseq.proteinCoordStr=p.K46R;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=60;refseq.start=38111547;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 0/1 chrX 39796472 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.5000T>G;refseq.codingCoordStr_2=c.4946T>G;refseq.codingCoordStr_3=c.5102T>G;refseq.codingCoordStr_4=c.5000T>G;refseq.codonCoord_1=1667;refseq.codonCoord_2=1649;refseq.codonCoord_3=1701;refseq.codonCoord_4=1667;refseq.end_1=39796472;refseq.end_2=39796472;refseq.end_3=39796472;refseq.end_4=39796472;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=5363;refseq.mrnaCoord_2=5309;refseq.mrnaCoord_3=5394;refseq.mrnaCoord_4=5292;refseq.name2_1=BCOR;refseq.name2_2=BCOR;refseq.name2_3=BCOR;refseq.name2_4=BCOR;refseq.name_1=NM_001123383;refseq.name_2=NM_001123384;refseq.name_3=NM_001123385;refseq.name_4=NM_017745;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V1667G;refseq.proteinCoordStr_2=p.V1649G;refseq.proteinCoordStr_3=p.V1701G;refseq.proteinCoordStr_4=p.V1667G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.referenceCodon_3=GTT;refseq.referenceCodon_4=GTT;refseq.spliceDist_1=126;refseq.spliceDist_2=126;refseq.spliceDist_3=126;refseq.spliceDist_4=126;refseq.start_1=39796472;refseq.start_2=39796472;refseq.start_3=39796472;refseq.start_4=39796472;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;set=FilteredInAll GT 0/1 chrX 39817770 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1773A>C;refseq.codingCoordStr_2=c.1773A>C;refseq.codingCoordStr_3=c.1773A>C;refseq.codingCoordStr_4=c.1773A>C;refseq.codonCoord_1=591;refseq.codonCoord_2=591;refseq.codonCoord_3=591;refseq.codonCoord_4=591;refseq.end_1=39817770;refseq.end_2=39817770;refseq.end_3=39817770;refseq.end_4=39817770;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2136;refseq.mrnaCoord_2=2136;refseq.mrnaCoord_3=2065;refseq.mrnaCoord_4=2065;refseq.name2_1=BCOR;refseq.name2_2=BCOR;refseq.name2_3=BCOR;refseq.name2_4=BCOR;refseq.name_1=NM_001123383;refseq.name_2=NM_001123384;refseq.name_3=NM_001123385;refseq.name_4=NM_017745;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T591T;refseq.proteinCoordStr_2=p.T591T;refseq.proteinCoordStr_3=p.T591T;refseq.proteinCoordStr_4=p.T591T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.referenceCodon_4=ACA;refseq.spliceDist_1=-1225;refseq.spliceDist_2=-1225;refseq.spliceDist_3=-1225;refseq.spliceDist_4=-1225;refseq.start_1=39817770;refseq.start_2=39817770;refseq.start_3=39817770;refseq.start_4=39817770;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=FilteredInAll GT 1/0 chrX 39818283 . A G 173.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=98.92;MQ0=0;OQ=1857.01;QD=13.96;RankSumP=0.0386821;SB=-651.70;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1260T>C;refseq.codingCoordStr_2=c.1260T>C;refseq.codingCoordStr_3=c.1260T>C;refseq.codingCoordStr_4=c.1260T>C;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.codonCoord_3=420;refseq.codonCoord_4=420;refseq.end_1=39818283;refseq.end_2=39818283;refseq.end_3=39818283;refseq.end_4=39818283;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1623;refseq.mrnaCoord_2=1623;refseq.mrnaCoord_3=1552;refseq.mrnaCoord_4=1552;refseq.name2_1=BCOR;refseq.name2_2=BCOR;refseq.name2_3=BCOR;refseq.name2_4=BCOR;refseq.name_1=NM_001123383;refseq.name_2=NM_001123384;refseq.name_3=NM_001123385;refseq.name_4=NM_017745;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D420D;refseq.proteinCoordStr_2=p.D420D;refseq.proteinCoordStr_3=p.D420D;refseq.proteinCoordStr_4=p.D420D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=1095;refseq.spliceDist_2=1095;refseq.spliceDist_3=1095;refseq.spliceDist_4=1095;refseq.start_1=39818283;refseq.start_2=39818283;refseq.start_3=39818283;refseq.start_4=39818283;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 0/1 chrX 40391641 . A G 77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=185;Dels=0.00;HRun=0;HaplotypeScore=13.26;MQ=98.43;MQ0=0;OQ=6078.51;QD=32.86;RankSumP=1.00000;SB=-1540.58;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.76T>C;refseq.codonCoord=26;refseq.end=40391641;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=123;refseq.name=NM_144970;refseq.name2=CXorf38;refseq.positionType=CDS;refseq.proteinCoordStr=p.L26L;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=123;refseq.start=40391641;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTA;set=Intersection GT 1/1 chrX 41090603 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1493C>A;refseq.codonCoord=498;refseq.end=41090603;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2348;refseq.name=NM_001356;refseq.name2=DDX3X;refseq.positionType=CDS;refseq.proteinCoordStr=p.T498K;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-5;refseq.spliceInfo=splice-donor_-5;refseq.start=41090603;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chrX 41322568 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1472T>G;refseq.codingCoordStr_2=c.1454T>G;refseq.codingCoordStr_3=c.1472T>G;refseq.codonCoord_1=491;refseq.codonCoord_2=485;refseq.codonCoord_3=491;refseq.end_1=41322568;refseq.end_2=41322568;refseq.end_3=41322568;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1518;refseq.mrnaCoord_2=1500;refseq.mrnaCoord_3=1518;refseq.name2_1=CASK;refseq.name2_2=CASK;refseq.name2_3=CASK;refseq.name_1=NM_001126054;refseq.name_2=NM_001126055;refseq.name_3=NM_003688;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V491G;refseq.proteinCoordStr_2=p.V485G;refseq.proteinCoordStr_3=p.V491G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-32;refseq.spliceDist_2=-32;refseq.spliceDist_3=-32;refseq.start_1=41322568;refseq.start_2=41322568;refseq.start_3=41322568;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;set=FilteredInAll GT 0/1 chrX 41472162 . T C 365.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=97.80;MQ0=0;OQ=3966.56;QD=43.11;RankSumP=1.00000;SB=-1028.09;SecondBestBaseQ=0;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.939T>C;refseq.codonCoord_4=313;refseq.end_1=41483570;refseq.end_2=41483570;refseq.end_3=41483570;refseq.end_4=41472162;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_4=1179;refseq.name2_1=CASK;refseq.name2_2=CASK;refseq.name2_3=CASK;refseq.name2_4=GPR82;refseq.name_1=NM_001126054;refseq.name_2=NM_001126055;refseq.name_3=NM_003688;refseq.name_4=NM_080817;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.D313D;refseq.referenceAA_4=Asp;refseq.referenceCodon_4=GAT;refseq.spliceDist_4=973;refseq.start_1=41415738;refseq.start_2=41415738;refseq.start_3=41415738;refseq.start_4=41472162;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=+;refseq.variantAA_4=Asp;refseq.variantCodon_4=GAC;set=Intersection GT 1/1 chrX 43475980 . G T 276.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=9.79;MQ=98.80;MQ0=0;OQ=13934.00;QD=38.07;RankSumP=1.00000;SB=-6114.74;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.891G>T;refseq.codonCoord=297;refseq.end=43475980;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1072;refseq.name=NM_000240;refseq.name2=MAOA;refseq.positionType=CDS;refseq.proteinCoordStr=p.R297R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-65;refseq.start=43475980;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/1 chrX 43488335 . T C 294.92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=273;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=98.68;MQ0=0;OQ=11341.46;QD=41.54;RankSumP=1.00000;SB=-5534.19;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1410T>C;refseq.codonCoord=470;refseq.end=43488335;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1591;refseq.name=NM_000240;refseq.name2=MAOA;refseq.positionType=CDS;refseq.proteinCoordStr=p.D470D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-28;refseq.start=43488335;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/1 chrX 43513601 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1244G>C;refseq.codonCoord=415;refseq.end=43513601;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1420;refseq.name=NM_000898;refseq.name2=MAOB;refseq.positionType=CDS;refseq.proteinCoordStr=p.R415P;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=43513601;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 44286133 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.chr=chrX;refseq.codingCoordStr=c.185+2;refseq.end=44286133;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_173794;refseq.name2=FUNDC1;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=44286133;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chrX 44823507 . G A 126.19 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=98.54;MQ0=0;OQ=4467.69;QD=20.88;RankSumP=0.411484;SB=-1693.86;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.3111G>A;refseq.codonCoord=1037;refseq.end=44823507;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3486;refseq.name=NM_021140;refseq.name2=KDM6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q1037Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=-34;refseq.start=44823507;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 1/0 chrX 44834083 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3700T>G;refseq.codonCoord=1234;refseq.end=44834083;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4075;refseq.name=NM_021140;refseq.name2=KDM6A;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1234G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-37;refseq.start=44834083;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 46357770 . G A 400.73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=98.64;MQ0=0;OQ=8546.64;QD=40.13;RankSumP=1.00000;SB=-1391.37;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1824C>T;refseq.codonCoord=608;refseq.end=46357770;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1832;refseq.name=NM_032591;refseq.name2=SLC9A7;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y608Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=4;refseq.spliceInfo=splice-acceptor_4;refseq.start=46357770;refseq.transcriptStrand=-;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 1/1 chrX 46977328 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.71T>G;refseq.codonCoord=24;refseq.end=46977328;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=71;refseq.name=NM_004651;refseq.name2=USP11;refseq.positionType=CDS;refseq.proteinCoordStr=p.V24G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=71;refseq.start=46977328;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 47154647 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.101T>G;refseq.codonCoord=34;refseq.end=47154647;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_003446;refseq.name2=ZNF157;refseq.positionType=CDS;refseq.proteinCoordStr=p.V34G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=29;refseq.start=47154647;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 47313146 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1162T>C;refseq.codonCoord=388;refseq.end=47313146;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1356;refseq.name=NM_001654;refseq.name2=ARAF;refseq.positionType=CDS;refseq.proteinCoordStr=p.S388P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=86;refseq.start=47313146;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 47317227 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2098G>C;refseq.codingCoordStr_2=c.*50G>C;refseq.codonCoord_1=700;refseq.end_1=47317227;refseq.end_2=47317227;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=2227;refseq.mrnaCoord_2=2189;refseq.name2_1=SYN1;refseq.name2_2=SYN1;refseq.name_1=NM_006950;refseq.name_2=NM_133499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.proteinCoordStr_1=p.A700P;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCC;refseq.spliceDist_1=116;refseq.spliceDist_2=78;refseq.start_1=47317227;refseq.start_2=47317227;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantCodon_1=CCC;set=FilteredInAll GT 1/0 chrX 47329929 . T C 411.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.42;MQ0=0;OQ=4642.73;QD=38.69;RankSumP=1.00000;SB=-1290.44;SecondBestBaseQ=0;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_3=c.372T>C;refseq.codonCoord_3=124;refseq.end_1=47349310;refseq.end_2=47349310;refseq.end_3=47329929;refseq.frame_3=2;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=564;refseq.name2_1=SYN1;refseq.name2_2=SYN1;refseq.name2_3=TIMP1;refseq.name_1=NM_006950;refseq.name_2=NM_133499;refseq.name_3=NM_003254;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.F124F;refseq.referenceAA_3=Phe;refseq.referenceCodon_3=TTT;refseq.spliceDist_3=44;refseq.start_1=47321855;refseq.start_2=47321855;refseq.start_3=47329929;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=+;refseq.variantAA_3=Phe;refseq.variantCodon_3=TTC;set=Intersection GT 1/1 chrX 47351305 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=257;Dels=0.00;HRun=0;HaplotypeScore=8.91;MQ=99.00;MQ0=0;OQ=3115.71;QD=12.12;RankSumP=0.0658122;SB=-949.94;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.510T>C;refseq.codingCoordStr_2=c.510T>C;refseq.codonCoord_1=170;refseq.codonCoord_2=170;refseq.end_1=47351305;refseq.end_2=47351305;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=639;refseq.mrnaCoord_2=639;refseq.name2_1=SYN1;refseq.name2_2=SYN1;refseq.name_1=NM_006950;refseq.name_2=NM_133499;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N170N;refseq.proteinCoordStr_2=p.N170N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=-18;refseq.spliceDist_2=-18;refseq.start_1=47351305;refseq.start_2=47351305;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chrX 47659928 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=8.85702e-09;SecondBestBaseQ=9;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.939G>A;refseq.codonCoord=313;refseq.end=47659928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1307;refseq.name=NM_007137;refseq.name2=ZNF81;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q313Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=662;refseq.start=47659928;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=FilteredInAll GT 1/0 chrX 47861346 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=895;Dels=0.00;HRun=0;HaplotypeScore=28.97;MQ=78.10;MQ0=0;OQ=16560.88;QD=18.50;RankSumP=0.452009;SB=-6511.82;SecondBestBaseQ=33;refseq.chr=chrX;refseq.end=47861346;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=411;refseq.name=NR_028366;refseq.name2=SSX6;refseq.positionType=non_coding_exon;refseq.spliceDist=9;refseq.spliceInfo=splice-acceptor_9;refseq.start=47861346;refseq.transcriptStrand=+;set=Intersection GT 0/1 chrX 47934610 . C T 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=743;Dels=0.00;HRun=2;HaplotypeScore=11.10;MQ=89.48;MQ0=1;OQ=31577.84;QD=42.50;RankSumP=1.00000;SB=-12194.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.492G>A;refseq.codingCoordStr_2=c.369G>A;refseq.codonCoord_1=164;refseq.codonCoord_2=123;refseq.end_1=47934610;refseq.end_2=47934610;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=545;refseq.mrnaCoord_2=422;refseq.name2_1=SSX5;refseq.name2_2=SSX5;refseq.name_1=NM_021015;refseq.name_2=NM_175723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S164S;refseq.proteinCoordStr_2=p.S123S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=47934610;refseq.start_2=47934610;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCA;refseq.variantCodon_2=TCA;set=Intersection GT 1/1 chrX 47939684 . C G 59 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=631;Dels=0.00;HRun=0;HaplotypeScore=20.44;MQ=98.88;MQ0=0;OQ=31310.66;QD=49.62;RankSumP=1.00000;SB=-9993.78;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.55G>C;refseq.codingCoordStr_2=c.55G>C;refseq.codonCoord_1=19;refseq.codonCoord_2=19;refseq.end_1=47939684;refseq.end_2=47939684;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=108;refseq.mrnaCoord_2=108;refseq.name2_1=SSX5;refseq.name2_2=SSX5;refseq.name_1=NM_021015;refseq.name_2=NM_175723;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E19Q;refseq.proteinCoordStr_2=p.E19Q;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-15;refseq.spliceDist_2=-15;refseq.start_1=47939684;refseq.start_2=47939684;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=Intersection GT 1/1 chrX 48010742 . T C 101.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=881;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=38.56;MQ0=489;OQ=12849.69;QD=14.59;RankSumP=1.00000;SB=-3409.40;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.543T>C;refseq.codonCoord=181;refseq.end=48010742;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_005635;refseq.name2=SSX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S181S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-29;refseq.start=48010742;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/1 chrX 48128980 . A G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=305;Dels=0.00;HRun=1;HaplotypeScore=21.39;MQ=25.12;MQ0=270;OQ=230.53;QD=0.76;SB=-134.73;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.103A>G;refseq.codingCoordStr_2=c.103A>G;refseq.codingCoordStr_3=c.103A>G;refseq.codingCoordStr_4=c.103A>G;refseq.codonCoord_1=35;refseq.codonCoord_2=35;refseq.codonCoord_3=35;refseq.codonCoord_4=35;refseq.end_1=48128980;refseq.end_2=48128980;refseq.end_3=48128980;refseq.end_4=48128980;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=161;refseq.mrnaCoord_2=161;refseq.mrnaCoord_3=161;refseq.mrnaCoord_4=161;refseq.name2_1=SSX4B;refseq.name2_2=SSX4B;refseq.name2_3=SSX4;refseq.name2_4=SSX4;refseq.name_1=NM_001034832;refseq.name_2=NM_001040612;refseq.name_3=NM_005636;refseq.name_4=NM_175729;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K35E;refseq.proteinCoordStr_2=p.K35E;refseq.proteinCoordStr_3=p.K35E;refseq.proteinCoordStr_4=p.K35E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=34;refseq.spliceDist_2=34;refseq.spliceDist_3=34;refseq.spliceDist_4=34;refseq.start_1=48128980;refseq.start_2=48128980;refseq.start_3=48128980;refseq.start_4=48128980;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;refseq.variantCodon_3=GAA;refseq.variantCodon_4=GAA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:286,18:21:-32.66,-6.32,-55.50:99 chrX 48129001 . T G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=393;Dels=0.00;HRun=0;HaplotypeScore=9.63;MQ=17.08;MQ0=377;OQ=60.77;QD=0.15;SB=-0.99;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.124T>G;refseq.codingCoordStr_2=c.124T>G;refseq.codingCoordStr_3=c.124T>G;refseq.codingCoordStr_4=c.124T>G;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.codonCoord_3=42;refseq.codonCoord_4=42;refseq.end_1=48129001;refseq.end_2=48129001;refseq.end_3=48129001;refseq.end_4=48129001;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=182;refseq.mrnaCoord_2=182;refseq.mrnaCoord_3=182;refseq.mrnaCoord_4=182;refseq.name2_1=SSX4B;refseq.name2_2=SSX4B;refseq.name2_3=SSX4;refseq.name2_4=SSX4;refseq.name_1=NM_001034832;refseq.name_2=NM_001040612;refseq.name_3=NM_005636;refseq.name_4=NM_175729;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S42A;refseq.proteinCoordStr_2=p.S42A;refseq.proteinCoordStr_3=p.S42A;refseq.proteinCoordStr_4=p.S42A;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.referenceCodon_4=TCC;refseq.spliceDist_1=55;refseq.spliceDist_2=55;refseq.spliceDist_3=55;refseq.spliceDist_4=55;refseq.start_1=48129001;refseq.start_2=48129001;refseq.start_3=48129001;refseq.start_4=48129001;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:389,3:12:-12.98,-3.62,-33.12:93.61 chrX 48129016 rs2014551 G T 11.17 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=424;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=14.76;MQ0=411;QD=0.03;SB=-10.00;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.139G>T;refseq.codingCoordStr_2=c.139G>T;refseq.codingCoordStr_3=c.139G>T;refseq.codingCoordStr_4=c.139G>T;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.codonCoord_3=47;refseq.codonCoord_4=47;refseq.end_1=48129016;refseq.end_2=48129016;refseq.end_3=48129016;refseq.end_4=48129016;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=197;refseq.mrnaCoord_2=197;refseq.mrnaCoord_3=197;refseq.mrnaCoord_4=197;refseq.name2_1=SSX4B;refseq.name2_2=SSX4B;refseq.name2_3=SSX4;refseq.name2_4=SSX4;refseq.name_1=NM_001034832;refseq.name_2=NM_001040612;refseq.name_3=NM_005636;refseq.name_4=NM_175729;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V47F;refseq.proteinCoordStr_2=p.V47F;refseq.proteinCoordStr_3=p.V47F;refseq.proteinCoordStr_4=p.V47F;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=-46;refseq.spliceDist_2=-46;refseq.spliceDist_3=-46;refseq.spliceDist_4=-46;refseq.start_1=48129016;refseq.start_2=48129016;refseq.start_3=48129016;refseq.start_4=48129016;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;refseq.variantCodon_4=TTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:422,2:11:-7.68,-3.31,-37.41:43.67 chrX 48137145 . C T 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.442734;SecondBestBaseQ=33;refseq.changesAA_2=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.*8C>T;refseq.codingCoordStr_2=c.439C>T;refseq.codingCoordStr_3=c.*8C>T;refseq.codingCoordStr_4=c.439C>T;refseq.codonCoord_2=147;refseq.codonCoord_4=147;refseq.end_1=48137145;refseq.end_2=48137145;refseq.end_3=48137145;refseq.end_4=48137145;refseq.frame_2=0;refseq.frame_4=0;refseq.functionalClass_2=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=633;refseq.mrnaCoord_2=497;refseq.mrnaCoord_3=633;refseq.mrnaCoord_4=497;refseq.name2_1=SSX4B;refseq.name2_2=SSX4B;refseq.name2_3=SSX4;refseq.name2_4=SSX4;refseq.name_1=NM_001034832;refseq.name_2=NM_001040612;refseq.name_3=NM_005636;refseq.name_4=NM_175729;refseq.numMatchingRecords=4;refseq.positionType_1=utr3;refseq.positionType_2=CDS;refseq.positionType_3=utr3;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.R147W;refseq.proteinCoordStr_4=p.R147W;refseq.referenceAA_2=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_4=CGG;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceDist_4=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.spliceInfo_4=splice-acceptor_4;refseq.start_1=48137145;refseq.start_2=48137145;refseq.start_3=48137145;refseq.start_4=48137145;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Trp;refseq.variantAA_4=Trp;refseq.variantCodon_2=TGG;refseq.variantCodon_4=TGG;set=soap GT 0/1 chrX 48267118 . G T 156.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=965.11;QD=19.30;RankSumP=0.577085;SB=-70.74;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.15G>T;refseq.codonCoord=5;refseq.end=48267118;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_006579;refseq.name2=EBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.A5A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=88;refseq.start=48267118;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 0/1 chrX 48270342 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.323A>C;refseq.codonCoord=108;refseq.end=48270342;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=528;refseq.name=NM_006579;refseq.name2=EBP;refseq.positionType=CDS;refseq.proteinCoordStr=p.D108A;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-16;refseq.start=48270342;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chrX 48303070 . A G 208.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=3.55;MQ=99.00;MQ0=0;OQ=2199.29;QD=13.83;RankSumP=0.0115413;SB=-959.43;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.830A>G;refseq.codonCoord=277;refseq.end=48303070;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=941;refseq.name=NM_002536;refseq.name2=TBC1D25;refseq.positionType=CDS;refseq.proteinCoordStr=p.N277S;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=125;refseq.start=48303070;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 0/1 chrX 48303603 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=98.42;MQ0=0;OQ=1681.20;QD=13.67;RankSumP=0.117714;SB=-683.64;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1363G>A;refseq.codonCoord=455;refseq.end=48303603;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1474;refseq.name=NM_002536;refseq.name2=TBC1D25;refseq.positionType=CDS;refseq.proteinCoordStr=p.A455T;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=658;refseq.start=48303603;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chrX 48303976 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1736T>G;refseq.codonCoord=579;refseq.end=48303976;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1847;refseq.name=NM_002536;refseq.name2=TBC1D25;refseq.positionType=CDS;refseq.proteinCoordStr=p.V579G;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=1031;refseq.start=48303976;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chrX 48304293 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2053A>C;refseq.codonCoord=685;refseq.end=48304293;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2164;refseq.name=NM_002536;refseq.name2=TBC1D25;refseq.positionType=CDS;refseq.proteinCoordStr=p.T685P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1348;refseq.start=48304293;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chrX 48319872 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=5.81283e-09;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.349T>G;refseq.codonCoord=117;refseq.end=48319872;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=488;refseq.name=NM_006743;refseq.name2=RBM3;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y117D;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=33;refseq.start=48319872;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT 1/0 chrX 48345258 . A G 282.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=208;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=98.78;MQ0=0;OQ=7243.45;QD=34.82;RankSumP=1.00000;SB=-2708.80;SecondBestBaseQ=34;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_2=c.698A>G;refseq.codingCoordStr_3=c.974A>G;refseq.codonCoord_2=233;refseq.codonCoord_3=325;refseq.end_1=48345258;refseq.end_2=48345258;refseq.end_3=48345258;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1445;refseq.mrnaCoord_2=1814;refseq.mrnaCoord_3=1479;refseq.name2_1=WDR13;refseq.name2_2=WDR13;refseq.name2_3=WDR13;refseq.name_1=NR_029427;refseq.name_2=NM_001166426;refseq.name_3=NM_017883;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.H233R;refseq.proteinCoordStr_3=p.H325R;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceCodon_2=CAT;refseq.referenceCodon_3=CAT;refseq.spliceDist_1=-39;refseq.spliceDist_2=-39;refseq.spliceDist_3=-39;refseq.start_1=48345258;refseq.start_2=48345258;refseq.start_3=48345258;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=CGT;refseq.variantCodon_3=CGT;set=Intersection GT 1/1 chrX 48429307 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.492A>C;refseq.codonCoord=164;refseq.end=48429307;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=549;refseq.name=NM_000377;refseq.name2=WAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T164T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=-14;refseq.start=48429307;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 0/1 chrX 48535703 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.628A>C;refseq.codonCoord=210;refseq.end=48535703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=719;refseq.name=NM_002049;refseq.name2=GATA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T210P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=30;refseq.start=48535703;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chrX 48549794 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=301;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=98.89;MQ0=0;OQ=6369.76;QD=21.16;RankSumP=0.147186;SB=-1891.28;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.513C>T;refseq.codonCoord=171;refseq.end=48549794;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=606;refseq.name=NM_006044;refseq.name2=HDAC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y171Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-22;refseq.start=48549794;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chrX 48551455 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.704C>G;refseq.codonCoord=235;refseq.end=48551455;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_006044;refseq.name2=HDAC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A235G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-34;refseq.start=48551455;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 48566045 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=4;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2409A>C;refseq.codonCoord=803;refseq.end=48566045;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2502;refseq.name=NM_006044;refseq.name2=HDAC6;refseq.positionType=CDS;refseq.proteinCoordStr=p.P803P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=72;refseq.start=48566045;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 48573150 . A C 92 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=18;DP=33;Dels=0.00;HRun=2;HaplotypeScore=4.81;MQ=96.41;MQ0=0;QD=0.64;RankSumP=0.000312612;SB=11.06;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.673A>C;refseq.codonCoord=225;refseq.end=48573150;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=924;refseq.name=NM_181532;refseq.name2=ERAS;refseq.positionType=CDS;refseq.proteinCoordStr=p.T225P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-343;refseq.start=48573150;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 48699202 . T G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=16;HRun=3;RankSumP=0.00373410;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_2=c.575A>C;refseq.codingCoordStr_3=c.575A>C;refseq.codingCoordStr_4=c.575A>C;refseq.codonCoord_2=192;refseq.codonCoord_3=192;refseq.codonCoord_4=192;refseq.end_1=48700427;refseq.end_2=48699202;refseq.end_3=48699202;refseq.end_4=48699202;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=636;refseq.mrnaCoord_3=636;refseq.mrnaCoord_4=636;refseq.name2_1=OTUD5;refseq.name2_2=OTUD5;refseq.name2_3=OTUD5;refseq.name2_4=OTUD5;refseq.name_1=NM_001136159;refseq.name_2=NM_001136157;refseq.name_3=NM_001136158;refseq.name_4=NM_017602;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.D192A;refseq.proteinCoordStr_3=p.D192A;refseq.proteinCoordStr_4=p.D192A;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.referenceCodon_4=GAC;refseq.spliceDist_2=-20;refseq.spliceDist_3=-20;refseq.spliceDist_4=-20;refseq.start_1=48686499;refseq.start_2=48699202;refseq.start_3=48699202;refseq.start_4=48699202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;refseq.variantCodon_4=GCC;set=FilteredInAll GT 1/0 chrX 48732441 . T C 214.79 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=98.68;MQ0=0;OQ=4445.01;QD=41.54;RankSumP=1.00000;SB=-1440.56;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.483A>G;refseq.codingCoordStr_2=c.324A>G;refseq.codonCoord_1=161;refseq.codonCoord_2=108;refseq.end_1=48732441;refseq.end_2=48732441;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=518;refseq.mrnaCoord_2=359;refseq.name2_1=GRIPAP1;refseq.name2_2=GRIPAP1;refseq.name_1=NM_020137;refseq.name_2=NM_207672;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E161E;refseq.proteinCoordStr_2=p.E108E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=26;refseq.spliceDist_2=18;refseq.start_1=48732441;refseq.start_2=48732441;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/1 chrX 48822690 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.9A>C;refseq.codingCoordStr_2=c.9A>C;refseq.codonCoord_1=3;refseq.codonCoord_2=3;refseq.end_1=48822690;refseq.end_2=48822690;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=181;refseq.mrnaCoord_2=448;refseq.name2_1=WDR45;refseq.name2_2=WDR45;refseq.name_1=NM_001029896;refseq.name_2=NM_007075;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q3H;refseq.proteinCoordStr_2=p.Q3H;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.start_1=48822690;refseq.start_2=48822690;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=FilteredInAll GT 1/0 chrX 48969902 . A G 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.500239;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1409T>C;refseq.codonCoord=470;refseq.end=48969902;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1471;refseq.name=NM_005183;refseq.name2=CACNA1F;refseq.positionType=CDS;refseq.proteinCoordStr=p.L470P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=7;refseq.spliceInfo=splice-acceptor_7;refseq.start=48969902;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 49066642 . A G 14 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=26;DB;DP=1460;Dels=0.00;HRun=0;HaplotypeScore=97.64;MQ=35.53;MQ0=919;OQ=13778.83;QD=9.44;RankSumP=0.746557;SB=-3276.01;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.26A>G;refseq.codonCoord=9;refseq.end=49066642;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=142;refseq.name=NM_001098406;refseq.name2=GAGE12J;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y9C;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=34;refseq.start=49066642;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=FilteredInAll GT 0/1 chrX 49066655 . A T 13 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=8;DB;DP=1017;Dels=0.00;HRun=0;HaplotypeScore=84.19;MQ=46.17;MQ0=531;OQ=15691.71;QD=15.43;RankSumP=0.0714286;SB=-6258.19;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.39A>T;refseq.codonCoord=13;refseq.end=49066655;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=155;refseq.name=NM_001098406;refseq.name2=GAGE12J;refseq.positionType=CDS;refseq.proteinCoordStr=p.R13S;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=-46;refseq.start=49066655;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=FilteredInAll GT 0/1 chrX 49066663 . C G 11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=836;Dels=0.00;HRun=0;HaplotypeScore=30.21;MQ=54.64;MQ0=369;OQ=20674.39;QD=24.73;RankSumP=1.00000;SB=-10199.72;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.47C>G;refseq.codonCoord=16;refseq.end=49066663;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=163;refseq.name=NM_001098406;refseq.name2=GAGE12J;refseq.positionType=CDS;refseq.proteinCoordStr=p.P16R;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-38;refseq.start=49066663;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chrX 49066699 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=650;Dels=0.00;HRun=0;HaplotypeScore=12.53;MQ=58.59;MQ0=66;OQ=21581.33;QD=33.20;RankSumP=1.00000;SB=-6175.47;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.83G>A;refseq.codonCoord=28;refseq.end=49066699;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=199;refseq.name=NM_001098406;refseq.name2=GAGE12J;refseq.positionType=CDS;refseq.proteinCoordStr=p.R28Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=49066699;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chrX 49233287 . A G 292.76 HARD_TO_VALIDATE;Indel AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=28.83;MQ=55.30;MQ0=10;QD=13.94;SB=-169.85;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.172A>G;refseq.codingCoordStr_2=c.172A>G;refseq.codingCoordStr_3=c.172A>G;refseq.codingCoordStr_4=c.172A>G;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.codonCoord_3=58;refseq.codonCoord_4=58;refseq.end_1=49233287;refseq.end_2=49233287;refseq.end_3=49233287;refseq.end_4=49233287;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=288;refseq.mrnaCoord_2=288;refseq.mrnaCoord_3=288;refseq.mrnaCoord_4=299;refseq.name2_1=GAGE12C;refseq.name2_2=GAGE12H;refseq.name2_3=GAGE12E;refseq.name2_4=GAGE12D;refseq.name_1=NM_001098408;refseq.name_2=NM_001098410;refseq.name_3=NM_001098418;refseq.name_4=NM_001127199;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K58E;refseq.proteinCoordStr_2=p.K58E;refseq.proteinCoordStr_3=p.K58E;refseq.proteinCoordStr_4=p.K58E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.spliceDist_3=-34;refseq.spliceDist_4=-34;refseq.start_1=49233287;refseq.start_2=49233287;refseq.start_3=49233287;refseq.start_4=49233287;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantAA_4=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;refseq.variantCodon_4=GAG;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:8,8:8:-32.86,-2.41,-0.00:24.08 chrX 49654572 . A G 251.83 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=217;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.51;MQ0=0;OQ=8708.58;QD=40.13;RankSumP=1.00000;SB=-4255.25;SecondBestBaseQ=2;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.end_1=49693654;refseq.end_2=49693654;refseq.end_3=49654572;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=79;refseq.name2_1=CLCN5;refseq.name2_2=CLCN5;refseq.name2_3=MIR532;refseq.name_1=NM_001127898;refseq.name_2=NM_001127899;refseq.name_3=NR_030241;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-13;refseq.start_1=49576675;refseq.start_2=49576675;refseq.start_3=49654572;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/1 chrX 49654575 . A G 272.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=98.51;MQ0=0;OQ=8471.45;QD=39.40;RankSumP=1.00000;SB=-3991.44;SecondBestBaseQ=2;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.end_1=49693654;refseq.end_2=49693654;refseq.end_3=49654575;refseq.haplotypeAlternate_3=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_3=82;refseq.name2_1=CLCN5;refseq.name2_2=CLCN5;refseq.name2_3=MIR532;refseq.name_1=NM_001127898;refseq.name_2=NM_001127899;refseq.name_3=NR_030241;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=non_coding_exon;refseq.spliceDist_3=-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=49576675;refseq.start_2=49576675;refseq.start_3=49654575;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;set=Intersection GT 1/1 chrX 50070015 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=98.14;MQ0=0;OQ=1879.89;QD=19.58;RankSumP=0.170969;SB=-475.83;SecondBestBaseQ=32;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2106C>T;refseq.codonCoord_2=702;refseq.end_1=50101930;refseq.end_2=50070015;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2220;refseq.name2_1=CCNB3;refseq.name2_2=CCNB3;refseq.name_1=NM_033670;refseq.name_2=NM_033031;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A702A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCC;refseq.spliceDist_2=-1222;refseq.start_1=50048638;refseq.start_2=50070015;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCT;set=Intersection GT 0/1 chrX 50070124 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2215G>C;refseq.codonCoord_2=739;refseq.end_1=50101930;refseq.end_2=50070124;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=2329;refseq.name2_1=CCNB3;refseq.name2_2=CCNB3;refseq.name_1=NM_033670;refseq.name_2=NM_033031;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A739P;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCA;refseq.spliceDist_2=-1113;refseq.start_1=50048638;refseq.start_2=50070124;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCA;set=FilteredInAll GT 0/1 chrX 50387370 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.2941A>C;refseq.codonCoord_2=981;refseq.end_1=50387370;refseq.end_2=50387370;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2967;refseq.mrnaCoord_2=2967;refseq.name2_1=SHROOM4;refseq.name2_2=SHROOM4;refseq.name_1=NR_027121;refseq.name_2=NM_020717;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.T981P;refseq.referenceAA_2=Thr;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=50387370;refseq.start_2=50387370;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Pro;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 50394154 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.57377e-07;SecondBestBaseQ=13;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.1659T>G;refseq.codonCoord_2=553;refseq.end_1=50394154;refseq.end_2=50394154;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1685;refseq.mrnaCoord_2=1685;refseq.name2_1=SHROOM4;refseq.name2_2=SHROOM4;refseq.name_1=NR_027121;refseq.name_2=NM_020717;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.G553G;refseq.referenceAA_2=Gly;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-1237;refseq.spliceDist_2=-1237;refseq.start_1=50394154;refseq.start_2=50394154;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 51092581 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=8.01;MQ=76.32;MQ0=6;OQ=1355.15;QD=7.88;RankSumP=0.123278;SB=-484.55;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.24A>G;refseq.codonCoord=8;refseq.end=51092581;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=244;refseq.name=NM_153183;refseq.name2=NUDT10;refseq.positionType=CDS;refseq.proteinCoordStr=p.T8T;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=107;refseq.start=51092581;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACG;set=Intersection GT 0/1 chrX 51092641 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=57.07;MQ0=8;OQ=187.56;QD=1.89;RankSumP=0.693884;SB=65.24;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.84G>A;refseq.codonCoord=28;refseq.end=51092641;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=304;refseq.name=NM_153183;refseq.name2=NUDT10;refseq.positionType=CDS;refseq.proteinCoordStr=p.E28E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=167;refseq.start=51092641;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/0 chrX 52691227 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1063;Dels=0.00;HRun=0;HaplotypeScore=38.63;MQ=3.43;MQ0=1054;OQ=198.22;QD=0.19;SB=-6.99;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.558C>T;refseq.codonCoord=186;refseq.end=52691227;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=717;refseq.name=NM_173358;refseq.name2=SSX7;refseq.positionType=CDS;refseq.proteinCoordStr=p.D186D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-14;refseq.start=52691227;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:688,374:7:-25.20,-2.11,-3.37:12.61 chrX 52842271 . C G 127.06 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=568;Dels=0.00;HRun=0;HaplotypeScore=11.88;MQ=94.05;MQ0=14;OQ=25652.33;QD=45.16;RankSumP=1.00000;SB=-8124.15;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.201G>C;refseq.codonCoord=67;refseq.end=52842271;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=201;refseq.name=NM_001009616;refseq.name2=SPANXN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L67L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=126;refseq.start=52842271;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chrX 52908370 . A G 48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=177;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=95.19;MQ0=0;OQ=2082.35;QD=11.76;RankSumP=0.373650;SB=-783.15;SecondBestBaseQ=34;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.*2T>C;refseq.codingCoordStr_2=c.*2T>C;refseq.end_1=52908370;refseq.end_2=52908370;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=398;refseq.mrnaCoord_2=429;refseq.name2_1=XAGE3;refseq.name2_2=XAGE3;refseq.name_1=NM_130776;refseq.name_2=NM_133179;refseq.numMatchingRecords=2;refseq.positionType_1=utr3;refseq.positionType_2=utr3;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=52908370;refseq.start_2=52908370;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 0/1 chrX 52908378 . C T 83 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=193;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=95.26;MQ0=0;OQ=2830.33;QD=14.66;RankSumP=0.305535;SB=-1116.73;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.330G>A;refseq.codingCoordStr_2=c.330G>A;refseq.codonCoord_1=110;refseq.codonCoord_2=110;refseq.end_1=52908378;refseq.end_2=52908378;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=390;refseq.mrnaCoord_2=421;refseq.name2_1=XAGE3;refseq.name2_2=XAGE3;refseq.name_1=NM_130776;refseq.name_2=NM_133179;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q110Q;refseq.proteinCoordStr_2=p.Q110Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=52908378;refseq.start_2=52908378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 0/1 chrX 52953593 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.100000;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.616C>G;refseq.codingCoordStr_2=c.616C>G;refseq.codonCoord_1=206;refseq.codonCoord_2=206;refseq.end_1=52953593;refseq.end_2=52953593;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=1532;refseq.name2_1=FAM156B;refseq.name2_2=FAM156A;refseq.name_1=NM_001099684;refseq.name_2=NM_014138;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L206V;refseq.proteinCoordStr_2=p.L206V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-718;refseq.spliceDist_2=-718;refseq.start_1=52953593;refseq.start_2=52953593;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT 1/0 chrX 53241949 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2793A>C;refseq.codingCoordStr_2=c.2994A>C;refseq.codonCoord_1=931;refseq.codonCoord_2=998;refseq.end_1=53241949;refseq.end_2=53241949;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3326;refseq.mrnaCoord_2=3527;refseq.name2_1=KDM5C;refseq.name2_2=KDM5C;refseq.name_1=NM_001146702;refseq.name_2=NM_004187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.P931P;refseq.proteinCoordStr_2=p.P998P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.spliceDist_1=13;refseq.spliceDist_2=13;refseq.start_1=53241949;refseq.start_2=53241949;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 53242800 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=5.34614e-14;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2573T>G;refseq.codingCoordStr_2=c.2774T>G;refseq.codonCoord_1=858;refseq.codonCoord_2=925;refseq.end_1=53242800;refseq.end_2=53242800;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3106;refseq.mrnaCoord_2=3307;refseq.name2_1=KDM5C;refseq.name2_2=KDM5C;refseq.name_1=NM_001146702;refseq.name_2=NM_004187;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V858G;refseq.proteinCoordStr_2=p.V925G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=152;refseq.spliceDist_2=152;refseq.start_1=53242800;refseq.start_2=53242800;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 53296449 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=5;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2034T>G;refseq.codingCoordStr_2=c.1419T>G;refseq.codonCoord_1=678;refseq.codonCoord_2=473;refseq.end_1=53296449;refseq.end_2=53296449;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2235;refseq.mrnaCoord_2=1512;refseq.name2_1=IQSEC2;refseq.name2_2=IQSEC2;refseq.name_1=NM_001111125;refseq.name_2=NM_015075;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G678G;refseq.proteinCoordStr_2=p.G473G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=-264;refseq.spliceDist_2=-264;refseq.start_1=53296449;refseq.start_2=53296449;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 53474347 . T C 128.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=98.64;MQ0=0;OQ=1690.20;QD=16.57;RankSumP=0.0197627;SB=-488.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.942T>C;refseq.codonCoord=314;refseq.end=53474347;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_001031745;refseq.name2=RIBC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T314T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-117;refseq.start=53474347;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chrX 53580314 . A G 414.41 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.95;MQ0=0;OQ=5183.31;QD=38.97;RankSumP=1.00000;SB=-1308.49;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.12177T>C;refseq.codonCoord=4059;refseq.end=53580314;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=12579;refseq.name=NM_031407;refseq.name2=HUWE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G4059G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=40;refseq.start=53580314;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/1 chrX 53591954 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=4.12085e-09;SecondBestBaseQ=10;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.10041T>C;refseq.codonCoord=3347;refseq.end=53591954;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=10443;refseq.name=NM_031407;refseq.name2=HUWE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F3347F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=6;refseq.spliceInfo=splice-acceptor_6;refseq.start=53591954;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=FilteredInAll GT 0/1 chrX 53594364 . C G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=230;Dels=0.00;HRun=1;HaplotypeScore=31.46;MQ=96.30;MQ0=0;OQ=180.76;QD=0.79;RankSumP=0.00000;SB=194.70;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.9476G>C;refseq.codonCoord=3159;refseq.end=53594364;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=9878;refseq.name=NM_031407;refseq.name2=HUWE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S3159T;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=-13;refseq.start=53594364;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chrX 53671127 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=595;Dels=0.00;HRun=0;HaplotypeScore=18.58;MQ=98.72;MQ0=0;OQ=12682.29;QD=21.31;RankSumP=0.392466;SB=-5228.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1448A>G;refseq.codonCoord=483;refseq.end=53671127;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1850;refseq.name=NM_031407;refseq.name2=HUWE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N483S;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-42;refseq.start=53671127;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=Intersection GT 1/0 chrX 53671461 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1337C>G;refseq.codonCoord=446;refseq.end=53671461;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1739;refseq.name=NM_031407;refseq.name2=HUWE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A446G;refseq.referenceAA=Ala;refseq.referenceCodon=GCT;refseq.spliceDist=-47;refseq.start=53671461;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 0/1 chrX 54035892 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=22;refseq.chr=chrX;refseq.codingCoordStr=c.1730+2;refseq.end=54035892;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_015107;refseq.name2=PHF8;refseq.positionType=intron;refseq.spliceDist=2;refseq.spliceInfo=splice-donor_2;refseq.start=54035892;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chrX 54128910 . C T 214.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=230;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=98.70;MQ0=0;OQ=4350.28;QD=18.91;RankSumP=0.314108;SB=-1329.86;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2802G>A;refseq.codonCoord=934;refseq.end=54128910;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2885;refseq.name=NM_017848;refseq.name2=FAM120C;refseq.positionType=CDS;refseq.proteinCoordStr=p.M934I;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-38;refseq.start=54128910;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chrX 54226112 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=18;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.245T>C;refseq.codonCoord=82;refseq.end=54226112;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=328;refseq.name=NM_017848;refseq.name2=FAM120C;refseq.positionType=CDS;refseq.proteinCoordStr=p.I82T;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=328;refseq.start=54226112;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=FilteredInAll GT 1/1 chrX 54245308 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.4743T>C;refseq.codingCoordStr_2=c.4914T>C;refseq.codonCoord_1=1581;refseq.codonCoord_2=1638;refseq.end_1=54245308;refseq.end_2=54245308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5182;refseq.mrnaCoord_2=5353;refseq.name2_1=WNK3;refseq.name2_2=WNK3;refseq.name_1=NM_001002838;refseq.name_2=NM_020922;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S1581S;refseq.proteinCoordStr_2=p.S1638S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=44;refseq.spliceDist_2=44;refseq.start_1=54245308;refseq.start_2=54245308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chrX 54595477 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1209A>C;refseq.codonCoord=403;refseq.end=54595477;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1348;refseq.name=NM_019067;refseq.name2=GNL3L;refseq.positionType=CDS;refseq.proteinCoordStr=p.P403P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=28;refseq.start=54595477;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 54800284 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2948A>C;refseq.codonCoord=983;refseq.end=54800284;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2978;refseq.name=NM_198510;refseq.name2=ITIH5L;refseq.positionType=CDS;refseq.proteinCoordStr=p.N983T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-162;refseq.start=54800284;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chrX 54853086 . A G 123.73 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=98.64;MQ0=0;OQ=682.16;QD=14.21;RankSumP=0.618793;SB=-195.95;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.252A>G;refseq.codingCoordStr_2=c.252A>G;refseq.codingCoordStr_3=c.252A>G;refseq.codonCoord_1=84;refseq.codonCoord_2=84;refseq.codonCoord_3=84;refseq.end_1=54853086;refseq.end_2=54853086;refseq.end_3=54853086;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=351;refseq.mrnaCoord_2=346;refseq.mrnaCoord_3=445;refseq.name2_1=MAGED2;refseq.name2_2=MAGED2;refseq.name2_3=MAGED2;refseq.name_1=NM_014599;refseq.name_2=NM_177433;refseq.name_3=NM_201222;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S84S;refseq.proteinCoordStr_2=p.S84S;refseq.proteinCoordStr_3=p.S84S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.spliceDist_1=207;refseq.spliceDist_2=207;refseq.spliceDist_3=207;refseq.start_1=54853086;refseq.start_2=54853086;refseq.start_3=54853086;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCG;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;set=Intersection GT 0/1 chrX 54853230 . A G 198.24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=98.80;MQ0=0;OQ=2072.91;QD=14.01;RankSumP=0.152604;SB=-984.93;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.396A>G;refseq.codingCoordStr_2=c.396A>G;refseq.codingCoordStr_3=c.396A>G;refseq.codonCoord_1=132;refseq.codonCoord_2=132;refseq.codonCoord_3=132;refseq.end_1=54853230;refseq.end_2=54853230;refseq.end_3=54853230;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=495;refseq.mrnaCoord_2=490;refseq.mrnaCoord_3=589;refseq.name2_1=MAGED2;refseq.name2_2=MAGED2;refseq.name2_3=MAGED2;refseq.name_1=NM_014599;refseq.name_2=NM_177433;refseq.name_3=NM_201222;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T132T;refseq.proteinCoordStr_2=p.T132T;refseq.proteinCoordStr_3=p.T132T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-142;refseq.spliceDist_2=-142;refseq.spliceDist_3=-142;refseq.start_1=54853230;refseq.start_2=54853230;refseq.start_3=54853230;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chrX 54854065 . C T 195.61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=5.88;MQ=98.39;MQ0=0;OQ=2024.39;QD=14.78;RankSumP=0.339385;SB=-380.85;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.624C>T;refseq.codingCoordStr_2=c.624C>T;refseq.codingCoordStr_3=c.624C>T;refseq.codonCoord_1=208;refseq.codonCoord_2=208;refseq.codonCoord_3=208;refseq.end_1=54854065;refseq.end_2=54854065;refseq.end_3=54854065;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=718;refseq.mrnaCoord_3=817;refseq.name2_1=MAGED2;refseq.name2_2=MAGED2;refseq.name2_3=MAGED2;refseq.name_1=NM_014599;refseq.name_2=NM_177433;refseq.name_3=NM_201222;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A208A;refseq.proteinCoordStr_2=p.A208A;refseq.proteinCoordStr_3=p.A208A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=87;refseq.spliceDist_2=87;refseq.spliceDist_3=87;refseq.start_1=54854065;refseq.start_2=54854065;refseq.start_3=54854065;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;refseq.variantCodon_3=GCT;set=Intersection GT 0/1 chrX 54854802 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=2;HaplotypeScore=1.26;MQ=98.87;MQ0=0;OQ=1865.46;QD=12.69;RankSumP=0.434984;SB=-523.82;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.981C>T;refseq.codingCoordStr_2=c.981C>T;refseq.codingCoordStr_3=c.981C>T;refseq.codonCoord_1=327;refseq.codonCoord_2=327;refseq.codonCoord_3=327;refseq.end_1=54854802;refseq.end_2=54854802;refseq.end_3=54854802;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1080;refseq.mrnaCoord_2=1075;refseq.mrnaCoord_3=1174;refseq.name2_1=MAGED2;refseq.name2_2=MAGED2;refseq.name2_3=MAGED2;refseq.name_1=NM_014599;refseq.name_2=NM_177433;refseq.name_3=NM_201222;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S327S;refseq.proteinCoordStr_2=p.S327S;refseq.proteinCoordStr_3=p.S327S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceDist_3=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.spliceInfo_3=splice-donor_-10;refseq.start_1=54854802;refseq.start_2=54854802;refseq.start_3=54854802;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 0/1 chrX 54973315 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=2;RankSumP=2.10415e-08;SecondBestBaseQ=10;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_3=c.3433A>C;refseq.codonCoord_3=1145;refseq.end_1=54974351;refseq.end_2=54974351;refseq.end_3=54973315;refseq.frame_3=0;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_3=3540;refseq.name2_1=TRO;refseq.name2_2=TRO;refseq.name2_3=TRO;refseq.name_1=NM_016157;refseq.name_2=NM_177556;refseq.name_3=NM_001039705;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=CDS;refseq.proteinCoordStr_3=p.T1145P;refseq.referenceAA_3=Thr;refseq.referenceCodon_3=ACC;refseq.spliceDist_3=-875;refseq.start_1=54971879;refseq.start_2=54971879;refseq.start_3=54973315;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_3=Pro;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chrX 55133191 . C G 221.15 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=203;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=88.92;MQ0=2;OQ=9857.42;QD=48.56;RankSumP=1.00000;SB=-2896.46;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.13C>G;refseq.codonCoord=5;refseq.end=55133191;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=61;refseq.name=NM_207339;refseq.name2=PAGE2;refseq.positionType=CDS;refseq.proteinCoordStr=p.L5V;refseq.referenceAA=Leu;refseq.referenceCodon=CTA;refseq.spliceDist=21;refseq.start=55133191;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/1 chrX 55306499 . T C 420.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=153;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=98.62;MQ0=0;OQ=6588.28;QD=43.06;RankSumP=1.00000;SB=-1807.39;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.103A>G;refseq.codonCoord_2=35;refseq.end_1=55306499;refseq.end_2=55306499;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=298;refseq.mrnaCoord_2=412;refseq.name2_1=PAGE3;refseq.name2_2=PAGE3;refseq.name_1=NR_033460;refseq.name_2=NM_001017931;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N35D;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=55306499;refseq.start_2=55306499;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Asp;refseq.variantCodon_2=GAT;set=Intersection GT 1/1 chrX 55530600 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1498G>C;refseq.codonCoord=500;refseq.end=55530600;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1577;refseq.name=NM_201286;refseq.name2=USP51;refseq.positionType=CDS;refseq.proteinCoordStr=p.A500P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=1547;refseq.start=55530600;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 55531543 . C T 238.95 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=114;Dels=0.00;HRun=1;HaplotypeScore=7.22;MQ=98.36;MQ0=0;OQ=4485.72;QD=39.35;RankSumP=1.00000;SB=-1657.04;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.555G>A;refseq.codonCoord=185;refseq.end=55531543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_201286;refseq.name2=USP51;refseq.positionType=CDS;refseq.proteinCoordStr=p.E185E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=604;refseq.start=55531543;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 1/1 chrX 55667726 . T C 284.37 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=303;Dels=0.00;HRun=1;HaplotypeScore=5.79;MQ=98.66;MQ0=0;OQ=12492.88;QD=41.23;RankSumP=1.00000;SB=-5196.09;SecondBestBaseQ=2;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.857T>C;refseq.codonCoord=286;refseq.end=55667726;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1169;refseq.name=NM_198451;refseq.name2=FOXR2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V286A;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-757;refseq.start=55667726;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chrX 57330082 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=99.00;MQ0=0;OQ=1216.62;QD=19.01;RankSumP=0.364629;SB=-585.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.99T>C;refseq.codonCoord=33;refseq.end=57330082;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=248;refseq.name=NM_174912;refseq.name2=FAAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G33G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-94;refseq.start=57330082;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=Intersection GT 1/0 chrX 57421888 . T C 433.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=231;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=98.63;MQ0=0;OQ=9300.12;QD=40.26;RankSumP=1.00000;SB=-1221.16;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.822T>C;refseq.codonCoord=274;refseq.end=57421888;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=971;refseq.name=NM_174912;refseq.name2=FAAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R274R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-57;refseq.start=57421888;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=Intersection GT 1/1 chrX 57491857 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=685;Dels=0.00;HRun=2;HaplotypeScore=15.99;MQ=98.75;MQ0=0;OQ=13749.07;QD=20.07;RankSumP=0.0763870;SB=-3849.07;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1404T>C;refseq.codonCoord=468;refseq.end=57491857;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1553;refseq.name=NM_174912;refseq.name2=FAAH2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P468P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-20;refseq.start=57491857;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 1/0 chrX 57635574 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.200000;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.368A>C;refseq.codonCoord=123;refseq.end=57635574;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=581;refseq.name=NM_007157;refseq.name2=ZXDB;refseq.positionType=CDS;refseq.proteinCoordStr=p.E123A;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=581;refseq.start=57635574;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=FilteredInAll GT 0/1 chrX 57635595 . G A 33.34 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=73.88;MQ0=0;QD=5.56;RankSumP=0.633333;SB=-34.52;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.389G>A;refseq.codonCoord=130;refseq.end=57635595;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=602;refseq.name=NM_007157;refseq.name2=ZXDB;refseq.positionType=CDS;refseq.proteinCoordStr=p.G130D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=602;refseq.start=57635595;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chrX 57636373 . G T 233.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=368;Dels=0.00;HRun=0;HaplotypeScore=9.44;MQ=35.63;MQ0=161;OQ=5557.07;QD=15.10;RankSumP=1.00000;SB=-1737.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1167G>T;refseq.codonCoord=389;refseq.end=57636373;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1380;refseq.name=NM_007157;refseq.name2=ZXDB;refseq.positionType=CDS;refseq.proteinCoordStr=p.P389P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=1380;refseq.start=57636373;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chrX 57636708 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.315152;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1502T>C;refseq.codonCoord=501;refseq.end=57636708;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1715;refseq.name=NM_007157;refseq.name2=ZXDB;refseq.positionType=CDS;refseq.proteinCoordStr=p.L501P;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1715;refseq.start=57636708;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=FilteredInAll GT 1/0 chrX 57953187 rs60293829 G A 11.68 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=88.48;MQ0=0;QD=0.78;SB=-3.98;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.393C>T;refseq.codonCoord=131;refseq.end=57953187;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=606;refseq.name=NM_007156;refseq.name2=ZXDA;refseq.positionType=CDS;refseq.proteinCoordStr=p.N131N;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=606;refseq.start=57953187;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:12,3:13:-8.34,-3.91,-46.50:44.21 chrX 63329445 . T C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=126;Dels=0.00;HRun=2;HaplotypeScore=57.43;MQ=97.05;MQ0=0;OQ=95.60;QD=0.76;RankSumP=0.00000;SB=218.75;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.447A>G;refseq.codonCoord=149;refseq.end=63329445;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=720;refseq.name=NM_152424;refseq.name2=FAM123B;refseq.positionType=CDS;refseq.proteinCoordStr=p.G149G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=545;refseq.start=63329445;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 63361035 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=169;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=97.64;MQ0=0;OQ=2231.05;QD=13.20;RankSumP=0.0812935;SB=-258.76;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.835G>A;refseq.codonCoord=279;refseq.end=63361035;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_130388;refseq.name2=ASB12;refseq.positionType=CDS;refseq.proteinCoordStr=p.V279I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=39;refseq.start=63361035;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chrX 63362043 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=119;Dels=0.00;HRun=4;HaplotypeScore=8.70;MQ=98.59;MQ0=0;OQ=132.40;QD=1.11;RankSumP=0.00000;SB=191.63;SecondBestBaseQ=18;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.186T>G;refseq.codonCoord=62;refseq.end=63362043;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=186;refseq.name=NM_130388;refseq.name2=ASB12;refseq.positionType=CDS;refseq.proteinCoordStr=p.G62G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=186;refseq.start=63362043;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 63405249 . A T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=198;Dels=0.00;HRun=0;HaplotypeScore=9.04;MQ=98.95;MQ0=0;OQ=2583.01;QD=13.05;RankSumP=0.229212;SB=-1308.42;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2008T>A;refseq.codonCoord=670;refseq.end=63405249;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2098;refseq.name=NM_017677;refseq.name2=MTMR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.L670M;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=400;refseq.start=63405249;refseq.transcriptStrand=-;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chrX 63405250 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=197;Dels=0.00;HRun=3;HaplotypeScore=10.03;MQ=98.95;MQ0=0;OQ=2588.56;QD=13.14;RankSumP=0.480253;SB=-1225.57;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2007C>A;refseq.codonCoord=669;refseq.end=63405250;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2097;refseq.name=NM_017677;refseq.name2=MTMR8;refseq.positionType=CDS;refseq.proteinCoordStr=p.N669K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=399;refseq.start=63405250;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chrX 65170280 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.173T>G;refseq.codingCoordStr_2=c.173T>G;refseq.codonCoord_1=58;refseq.codonCoord_2=58;refseq.end_1=65170280;refseq.end_2=65170280;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=300;refseq.name2_1=VSIG4;refseq.name2_2=VSIG4;refseq.name_1=NM_001100431;refseq.name_2=NM_007268;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V58G;refseq.proteinCoordStr_2=p.V58G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.spliceDist_1=118;refseq.spliceDist_2=118;refseq.start_1=65170280;refseq.start_2=65170280;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 0/1 chrX 65310219 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.485G>C;refseq.codingCoordStr_2=c.-326G>C;refseq.codingCoordStr_3=c.638G>C;refseq.codonCoord_1=162;refseq.codonCoord_3=213;refseq.end_1=65310219;refseq.end_2=65310219;refseq.end_3=65310219;refseq.frame_1=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=723;refseq.mrnaCoord_2=513;refseq.mrnaCoord_3=775;refseq.name2_1=HEPH;refseq.name2_2=HEPH;refseq.name2_3=HEPH;refseq.name_1=NM_001130860;refseq.name_2=NM_014799;refseq.name_3=NM_138737;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G162A;refseq.proteinCoordStr_3=p.G213A;refseq.referenceAA_1=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=64;refseq.spliceDist_2=64;refseq.spliceDist_3=64;refseq.start_1=65310219;refseq.start_2=65310219;refseq.start_3=65310219;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chrX 65343765 . T C 304.39 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=98.91;MQ0=0;OQ=5974.85;QD=21.73;RankSumP=0.337867;SB=-2356.89;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.2304T>C;refseq.codingCoordStr_2=c.1494T>C;refseq.codingCoordStr_3=c.2457T>C;refseq.codonCoord_1=768;refseq.codonCoord_2=498;refseq.codonCoord_3=819;refseq.end_1=65343765;refseq.end_2=65343765;refseq.end_3=65343765;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2542;refseq.mrnaCoord_2=2332;refseq.mrnaCoord_3=2594;refseq.name2_1=HEPH;refseq.name2_2=HEPH;refseq.name2_3=HEPH;refseq.name_1=NM_001130860;refseq.name_2=NM_014799;refseq.name_3=NM_138737;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y768Y;refseq.proteinCoordStr_2=p.Y498Y;refseq.proteinCoordStr_3=p.Y819Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=4;refseq.spliceDist_2=4;refseq.spliceDist_3=4;refseq.spliceInfo_1=splice-acceptor_4;refseq.spliceInfo_2=splice-acceptor_4;refseq.spliceInfo_3=splice-acceptor_4;refseq.start_1=65343765;refseq.start_2=65343765;refseq.start_3=65343765;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 1/0 chrX 65343849 . A G 199.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=127;Dels=0.00;HRun=0;HaplotypeScore=6.93;MQ=98.80;MQ0=0;OQ=1941.94;QD=15.29;RankSumP=0.452688;SB=-323.27;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.2388A>G;refseq.codingCoordStr_2=c.1578A>G;refseq.codingCoordStr_3=c.2541A>G;refseq.codonCoord_1=796;refseq.codonCoord_2=526;refseq.codonCoord_3=847;refseq.end_1=65343849;refseq.end_2=65343849;refseq.end_3=65343849;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2626;refseq.mrnaCoord_2=2416;refseq.mrnaCoord_3=2678;refseq.name2_1=HEPH;refseq.name2_2=HEPH;refseq.name2_3=HEPH;refseq.name_1=NM_001130860;refseq.name_2=NM_014799;refseq.name_3=NM_138737;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T796T;refseq.proteinCoordStr_2=p.T526T;refseq.proteinCoordStr_3=p.T847T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.referenceCodon_3=ACA;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.start_1=65343849;refseq.start_2=65343849;refseq.start_3=65343849;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;refseq.variantCodon_3=ACG;set=Intersection GT 0/1 chrX 65739332 . T C 393.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=2599.30;QD=38.80;RankSumP=1.00000;SB=-937.71;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.385A>G;refseq.codonCoord=129;refseq.end=65739332;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=396;refseq.name=NM_021783;refseq.name2=EDA2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.T129A;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=33;refseq.start=65739332;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 1/1 chrX 65741711 . C T 216.62 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=98.43;MQ0=0;OQ=3198.75;QD=21.04;RankSumP=0.0207586;SB=-1589.57;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.170G>A;refseq.codonCoord=57;refseq.end=65741711;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=181;refseq.name=NM_021783;refseq.name2=EDA2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.R57K;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=83;refseq.start=65741711;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 0/1 chrX 65752566 . A G 102.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=260;Dels=0.00;HRun=0;HaplotypeScore=6.34;MQ=98.69;MQ0=0;OQ=5258.74;QD=20.23;RankSumP=0.119954;SB=-1824.04;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.22T>C;refseq.codonCoord=8;refseq.end=65752566;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=33;refseq.name=NM_021783;refseq.name2=EDA2R;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y8H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=33;refseq.start=65752566;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 0/1 chrX 67569473 . C T 257.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=340;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=98.84;MQ0=0;OQ=6032.17;QD=17.74;RankSumP=0.269349;SB=-1969.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.115G>A;refseq.codonCoord=39;refseq.end=67569473;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=409;refseq.name=NM_002547;refseq.name2=OPHN1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V39I;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=-40;refseq.start=67569473;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATA;set=Intersection GT 0/1 chrX 67856926 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1985G>C;refseq.codingCoordStr_2=c.1745G>C;refseq.codingCoordStr_3=c.1745G>C;refseq.codonCoord_1=662;refseq.codonCoord_2=582;refseq.codonCoord_3=582;refseq.end_1=67856926;refseq.end_2=67856926;refseq.end_3=67856926;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2199;refseq.mrnaCoord_2=2093;refseq.mrnaCoord_3=2117;refseq.name2_1=STARD8;refseq.name2_2=STARD8;refseq.name2_3=STARD8;refseq.name_1=NM_001142503;refseq.name_2=NM_001142504;refseq.name_3=NM_014725;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G662A;refseq.proteinCoordStr_2=p.G582A;refseq.proteinCoordStr_3=p.G582A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=67856926;refseq.start_2=67856926;refseq.start_3=67856926;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 0/1 chrX 67976912 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.731T>G;refseq.codonCoord=244;refseq.end=67976912;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1511;refseq.name=NM_004429;refseq.name2=EFNB1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V244G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=103;refseq.start=67976912;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 68642365 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=97;Dels=0.00;HRun=3;HaplotypeScore=3.02;MQ=98.66;MQ0=0;OQ=1698.17;QD=17.51;RankSumP=0.0437420;SB=-846.78;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.515T>C;refseq.codonCoord=172;refseq.end=68642365;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=563;refseq.name=NM_015686;refseq.name2=FAM155B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L172P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=-347;refseq.start=68642365;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 68666141 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=3;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1036T>G;refseq.codonCoord=346;refseq.end=68666141;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1084;refseq.name=NM_015686;refseq.name2=FAM155B;refseq.positionType=CDS;refseq.proteinCoordStr=p.L346V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=3;refseq.spliceInfo=splice-acceptor_3;refseq.start=68666141;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chrX 69395525 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=23;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.675T>C;refseq.codonCoord=225;refseq.end=69395525;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=855;refseq.name=NM_002565;refseq.name2=P2RY4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R225R;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-785;refseq.start=69395525;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chrX 69395526 . C G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=3.40813e-07;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.674G>C;refseq.codonCoord=225;refseq.end=69395526;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=854;refseq.name=NM_002565;refseq.name2=P2RY4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R225P;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=-786;refseq.start=69395526;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=FilteredInAll GT 1/0 chrX 69427060 . C T 258.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=200;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=86.78;MQ0=24;OQ=7401.70;QD=37.01;RankSumP=1.00000;SB=-3165.96;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.27C>T;refseq.codonCoord=9;refseq.end=69427060;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=170;refseq.name=NM_012310;refseq.name2=KIF4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.P9P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=48;refseq.start=69427060;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chrX 69489226 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1483G>A;refseq.codonCoord=495;refseq.end=69489226;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1626;refseq.name=NM_012310;refseq.name2=KIF4A;refseq.positionType=CDS;refseq.proteinCoordStr=p.E495K;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=69489226;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 1/0 chrX 69561955 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=589;Dels=0.00;HRun=2;HaplotypeScore=14.72;MQ=98.82;MQ0=0;OQ=14542.97;QD=24.69;RankSumP=0.132121;SB=-4682.97;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_2=c.132C>T;refseq.codingCoordStr_3=c.-106C>T;refseq.codingCoordStr_4=c.132C>T;refseq.codonCoord_2=44;refseq.codonCoord_4=44;refseq.end_1=69562327;refseq.end_2=69561955;refseq.end_3=69561955;refseq.end_4=69561955;refseq.frame_2=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=493;refseq.mrnaCoord_3=379;refseq.mrnaCoord_4=493;refseq.name2_1=GDPD2;refseq.name2_2=GDPD2;refseq.name2_3=GDPD2;refseq.name2_4=GDPD2;refseq.name_1=NM_001171191;refseq.name_2=NM_001171192;refseq.name_3=NM_001171193;refseq.name_4=NM_017711;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=utr5;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.L44L;refseq.proteinCoordStr_4=p.L44L;refseq.referenceAA_2=Leu;refseq.referenceAA_4=Leu;refseq.referenceCodon_2=CTC;refseq.referenceCodon_4=CTC;refseq.spliceDist_2=27;refseq.spliceDist_3=27;refseq.spliceDist_4=27;refseq.start_1=69559968;refseq.start_2=69561955;refseq.start_3=69561955;refseq.start_4=69561955;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Leu;refseq.variantAA_4=Leu;refseq.variantCodon_2=CTT;refseq.variantCodon_4=CTT;set=Intersection GT 0/1 chrX 69563894 . T C 244.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=98.76;MQ0=0;OQ=3017.21;QD=15.39;RankSumP=0.411000;SB=-1442.15;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.555T>C;refseq.codingCoordStr_2=c.792T>C;refseq.codingCoordStr_3=c.555T>C;refseq.codingCoordStr_4=c.792T>C;refseq.codonCoord_1=185;refseq.codonCoord_2=264;refseq.codonCoord_3=185;refseq.codonCoord_4=264;refseq.end_1=69563894;refseq.end_2=69563894;refseq.end_3=69563894;refseq.end_4=69563894;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=935;refseq.mrnaCoord_2=1153;refseq.mrnaCoord_3=1039;refseq.mrnaCoord_4=1153;refseq.name2_1=GDPD2;refseq.name2_2=GDPD2;refseq.name2_3=GDPD2;refseq.name2_4=GDPD2;refseq.name_1=NM_001171191;refseq.name_2=NM_001171192;refseq.name_3=NM_001171193;refseq.name_4=NM_017711;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.D185D;refseq.proteinCoordStr_2=p.D264D;refseq.proteinCoordStr_3=p.D185D;refseq.proteinCoordStr_4=p.D264D;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.spliceDist_1=7;refseq.spliceDist_2=7;refseq.spliceDist_3=7;refseq.spliceDist_4=7;refseq.spliceInfo_1=splice-acceptor_7;refseq.spliceInfo_2=splice-acceptor_7;refseq.spliceInfo_3=splice-acceptor_7;refseq.spliceInfo_4=splice-acceptor_7;refseq.start_1=69563894;refseq.start_2=69563894;refseq.start_3=69563894;refseq.start_4=69563894;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=Intersection GT 1/0 chrX 69569487 . A G 307.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=98.31;MQ0=0;OQ=3612.42;QD=42.00;RankSumP=1.00000;SB=-1722.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1302A>G;refseq.codingCoordStr_2=c.1692A>G;refseq.codingCoordStr_3=c.1302A>G;refseq.codingCoordStr_4=c.1539A>G;refseq.codonCoord_1=434;refseq.codonCoord_2=564;refseq.codonCoord_3=434;refseq.codonCoord_4=513;refseq.end_1=69569487;refseq.end_2=69569487;refseq.end_3=69569487;refseq.end_4=69569487;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1682;refseq.mrnaCoord_2=2053;refseq.mrnaCoord_3=1786;refseq.mrnaCoord_4=1900;refseq.name2_1=GDPD2;refseq.name2_2=GDPD2;refseq.name2_3=GDPD2;refseq.name2_4=GDPD2;refseq.name_1=NM_001171191;refseq.name_2=NM_001171192;refseq.name_3=NM_001171193;refseq.name_4=NM_017711;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.R434R;refseq.proteinCoordStr_2=p.R564R;refseq.proteinCoordStr_3=p.R434R;refseq.proteinCoordStr_4=p.R513R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceAA_4=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.referenceCodon_3=AGA;refseq.referenceCodon_4=AGA;refseq.spliceDist_1=1;refseq.spliceDist_2=1;refseq.spliceDist_3=1;refseq.spliceDist_4=1;refseq.spliceInfo_1=splice-acceptor_1;refseq.spliceInfo_2=splice-acceptor_1;refseq.spliceInfo_3=splice-acceptor_1;refseq.spliceInfo_4=splice-acceptor_1;refseq.start_1=69569487;refseq.start_2=69569487;refseq.start_3=69569487;refseq.start_4=69569487;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;refseq.variantCodon_3=AGG;refseq.variantCodon_4=AGG;set=Intersection GT 1/1 chrX 69628807 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.197T>G;refseq.codingCoordStr_2=c.635T>G;refseq.codingCoordStr_3=c.1646T>G;refseq.codonCoord_1=66;refseq.codonCoord_2=212;refseq.codonCoord_3=549;refseq.end_1=69628807;refseq.end_2=69628807;refseq.end_3=69628807;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=409;refseq.mrnaCoord_2=952;refseq.mrnaCoord_3=1993;refseq.name2_1=DLG3;refseq.name2_2=DLG3;refseq.name2_3=DLG3;refseq.name_1=NM_001166278;refseq.name_2=NM_020730;refseq.name_3=NM_021120;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V66G;refseq.proteinCoordStr_2=p.V212G;refseq.proteinCoordStr_3=p.V549G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.spliceDist_3=-52;refseq.start_1=69628807;refseq.start_2=69628807;refseq.start_3=69628807;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chrX 69691242 . A T 355.08 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.88;MQ0=0;OQ=7804.07;QD=39.82;RankSumP=1.00000;SB=-3595.71;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2319T>A;refseq.codingCoordStr_2=c.2274T>A;refseq.codonCoord_1=773;refseq.codonCoord_2=758;refseq.end_1=69691242;refseq.end_2=69691242;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2481;refseq.mrnaCoord_2=2359;refseq.name2_1=TEX11;refseq.name2_2=TEX11;refseq.name_1=NM_001003811;refseq.name_2=NM_031276;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T773T;refseq.proteinCoordStr_2=p.T758T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=69691242;refseq.start_2=69691242;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=Intersection GT 1/1 chrX 69742025 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2063T>G;refseq.codingCoordStr_2=c.2018T>G;refseq.codonCoord_1=688;refseq.codonCoord_2=673;refseq.end_1=69742025;refseq.end_2=69742025;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2225;refseq.mrnaCoord_2=2103;refseq.name2_1=TEX11;refseq.name2_2=TEX11;refseq.name_1=NM_001003811;refseq.name_2=NM_031276;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V688G;refseq.proteinCoordStr_2=p.V673G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-50;refseq.spliceDist_2=-50;refseq.start_1=69742025;refseq.start_2=69742025;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chrX 70016572 . T C 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.398668;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.195A>G;refseq.codingCoordStr_2=c.150A>G;refseq.codonCoord_1=65;refseq.codonCoord_2=50;refseq.end_1=70016572;refseq.end_2=70016572;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=357;refseq.mrnaCoord_2=235;refseq.name2_1=TEX11;refseq.name2_2=TEX11;refseq.name_1=NM_001003811;refseq.name_2=NM_031276;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T65T;refseq.proteinCoordStr_2=p.T50T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACA;refseq.referenceCodon_2=ACA;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=70016572;refseq.start_2=70016572;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=FilteredInAll GT 1/0 chrX 70063123 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=98.58;MQ0=0;OQ=594.63;QD=10.25;RankSumP=0.446218;SB=-271.25;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1599T>C;refseq.codingCoordStr_2=c.1599T>C;refseq.codonCoord_1=533;refseq.codonCoord_2=533;refseq.end_1=70063123;refseq.end_2=70063123;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1733;refseq.mrnaCoord_2=1757;refseq.name2_1=SLC7A3;refseq.name2_2=SLC7A3;refseq.name_1=NM_001048164;refseq.name_2=NM_032803;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S533S;refseq.proteinCoordStr_2=p.S533S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGT;refseq.referenceCodon_2=AGT;refseq.spliceDist_1=-22;refseq.spliceDist_2=-22;refseq.start_1=70063123;refseq.start_2=70063123;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGC;refseq.variantCodon_2=AGC;set=Intersection GT 0/1 chrX 70240882 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=98.85;MQ0=0;OQ=1108.08;QD=19.79;RankSumP=0.0538762;SB=-419.16;SecondBestBaseQ=31;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.417G>A;refseq.codonCoord_2=139;refseq.end_1=70240882;refseq.end_2=70240882;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=649;refseq.name2_1=CXorf65;refseq.name2_2=CXorf65;refseq.name_1=NR_033212;refseq.name_2=NM_001025265;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.A139A;refseq.referenceAA_2=Ala;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-10;refseq.spliceDist_2=-10;refseq.spliceInfo_1=splice-donor_-10;refseq.spliceInfo_2=splice-donor_-10;refseq.start_1=70240882;refseq.start_2=70240882;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ala;refseq.variantCodon_2=GCA;set=Intersection GT 0/1 chrX 70260906 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.58808e-09;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1917T>C;refseq.codonCoord=639;refseq.end=70260906;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2116;refseq.name=NM_005120;refseq.name2=MED12;refseq.positionType=CDS;refseq.proteinCoordStr=p.D639D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=-58;refseq.start=70260906;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chrX 70265727 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3514A>C;refseq.codonCoord=1172;refseq.end=70265727;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3713;refseq.name=NM_005120;refseq.name2=MED12;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1172P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=39;refseq.start=70265727;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 70266672 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=139;Dels=0.00;HRun=3;HaplotypeScore=4.44;MQ=98.87;MQ0=0;OQ=1894.29;QD=13.63;RankSumP=0.295711;SB=-914.76;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.3930A>C;refseq.codonCoord=1310;refseq.end=70266672;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=4129;refseq.name=NM_005120;refseq.name2=MED12;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1310P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=63;refseq.start=70266672;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=Intersection GT 0/1 chrX 70304169 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1377G>C;refseq.codingCoordStr_2=c.1437G>C;refseq.codingCoordStr_3=c.1497G>C;refseq.codonCoord_1=459;refseq.codonCoord_2=479;refseq.codonCoord_3=499;refseq.end_1=70304169;refseq.end_2=70304169;refseq.end_3=70304169;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1711;refseq.mrnaCoord_2=1771;refseq.mrnaCoord_3=1831;refseq.name2_1=NLGN3;refseq.name2_2=NLGN3;refseq.name2_3=NLGN3;refseq.name_1=NM_001166660;refseq.name_2=NM_018977;refseq.name_3=NM_181303;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S459S;refseq.proteinCoordStr_2=p.S479S;refseq.proteinCoordStr_3=p.S499S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCG;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_1=-207;refseq.spliceDist_2=-207;refseq.spliceDist_3=-207;refseq.start_1=70304169;refseq.start_2=70304169;refseq.start_3=70304169;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 0/1 chrX 70305838 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1593C>A;refseq.codingCoordStr_2=c.1653C>A;refseq.codingCoordStr_3=c.1713C>A;refseq.codonCoord_1=531;refseq.codonCoord_2=551;refseq.codonCoord_3=571;refseq.end_1=70305838;refseq.end_2=70305838;refseq.end_3=70305838;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1927;refseq.mrnaCoord_2=1987;refseq.mrnaCoord_3=2047;refseq.name2_1=NLGN3;refseq.name2_2=NLGN3;refseq.name2_3=NLGN3;refseq.name_1=NM_001166660;refseq.name_2=NM_018977;refseq.name_3=NM_181303;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N531K;refseq.proteinCoordStr_2=p.N551K;refseq.proteinCoordStr_3=p.N571K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.referenceCodon_3=AAC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceDist_3=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.spliceInfo_3=splice-acceptor_10;refseq.start_1=70305838;refseq.start_2=70305838;refseq.start_3=70305838;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;set=FilteredInAll GT 1/0 chrX 70360779 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=2;RankSumP=3.13879e-09;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.497T>G;refseq.codingCoordStr_2=c.497T>G;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.end_1=70360779;refseq.end_2=70360779;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=643;refseq.mrnaCoord_2=592;refseq.name2_1=GJB1;refseq.name2_2=GJB1;refseq.name_1=NM_000166;refseq.name_2=NM_001097642;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V166G;refseq.proteinCoordStr_2=p.V166G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=513;refseq.spliceDist_2=513;refseq.start_1=70360779;refseq.start_2=70360779;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chrX 70384040 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=2.40223e-09;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.2194A>C;refseq.codingCoordStr_2=c.2194A>C;refseq.codingCoordStr_3=c.2194A>C;refseq.codonCoord_1=732;refseq.codonCoord_2=732;refseq.codonCoord_3=732;refseq.end_1=70384040;refseq.end_2=70384040;refseq.end_3=70384040;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2943;refseq.mrnaCoord_2=2382;refseq.mrnaCoord_3=2373;refseq.name2_1=ZMYM3;refseq.name2_2=ZMYM3;refseq.name2_3=ZMYM3;refseq.name_1=NM_001171162;refseq.name_2=NM_005096;refseq.name_3=NM_201599;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T732P;refseq.proteinCoordStr_2=p.T732P;refseq.proteinCoordStr_3=p.T732P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=46;refseq.spliceDist_2=46;refseq.spliceDist_3=46;refseq.start_1=70384040;refseq.start_2=70384040;refseq.start_3=70384040;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 1/0 chrX 70386253 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1253T>G;refseq.codingCoordStr_2=c.1253T>G;refseq.codingCoordStr_3=c.1253T>G;refseq.codingCoordStr_4=c.1253T>G;refseq.codonCoord_1=418;refseq.codonCoord_2=418;refseq.codonCoord_3=418;refseq.codonCoord_4=418;refseq.end_1=70386253;refseq.end_2=70386253;refseq.end_3=70386253;refseq.end_4=70386253;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=2002;refseq.mrnaCoord_2=1441;refseq.mrnaCoord_3=1441;refseq.mrnaCoord_4=1432;refseq.name2_1=ZMYM3;refseq.name2_2=ZMYM3;refseq.name2_3=ZMYM3;refseq.name2_4=ZMYM3;refseq.name_1=NM_001171162;refseq.name_2=NM_001171163;refseq.name_3=NM_005096;refseq.name_4=NM_201599;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V418G;refseq.proteinCoordStr_2=p.V418G;refseq.proteinCoordStr_3=p.V418G;refseq.proteinCoordStr_4=p.V418G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceDist_3=2;refseq.spliceDist_4=2;refseq.spliceInfo_1=splice-acceptor_2;refseq.spliceInfo_2=splice-acceptor_2;refseq.spliceInfo_3=splice-acceptor_2;refseq.spliceInfo_4=splice-acceptor_2;refseq.start_1=70386253;refseq.start_2=70386253;refseq.start_3=70386253;refseq.start_4=70386253;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT 0/1 chrX 70427326 . A C 23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.0379620;SecondBestBaseQ=26;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_2=c.114A>C;refseq.codingCoordStr_3=c.114A>C;refseq.codingCoordStr_4=c.114A>C;refseq.codonCoord_2=38;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.end_1=70428343;refseq.end_2=70427326;refseq.end_3=70427326;refseq.end_4=70427326;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=824;refseq.mrnaCoord_3=653;refseq.mrnaCoord_4=710;refseq.name2_1=NONO;refseq.name2_2=NONO;refseq.name2_3=NONO;refseq.name2_4=NONO;refseq.name_1=NM_001145410;refseq.name_2=NM_001145408;refseq.name_3=NM_001145409;refseq.name_4=NM_007363;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_2=p.P38P;refseq.proteinCoordStr_3=p.P38P;refseq.proteinCoordStr_4=p.P38P;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.spliceDist_2=-41;refseq.spliceDist_3=-41;refseq.spliceDist_4=-41;refseq.start_1=70420307;refseq.start_2=70427326;refseq.start_3=70427326;refseq.start_4=70427326;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;set=soap GT 0/1 chrX 70435355 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1245A>C;refseq.codingCoordStr_2=c.1245A>C;refseq.codingCoordStr_3=c.978A>C;refseq.codingCoordStr_4=c.1245A>C;refseq.codonCoord_1=415;refseq.codonCoord_2=415;refseq.codonCoord_3=326;refseq.codonCoord_4=415;refseq.end_1=70435355;refseq.end_2=70435355;refseq.end_3=70435355;refseq.end_4=70435355;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1955;refseq.mrnaCoord_2=1784;refseq.mrnaCoord_3=1621;refseq.mrnaCoord_4=1841;refseq.name2_1=NONO;refseq.name2_2=NONO;refseq.name2_3=NONO;refseq.name2_4=NONO;refseq.name_1=NM_001145408;refseq.name_2=NM_001145409;refseq.name_3=NM_001145410;refseq.name_4=NM_007363;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.G415G;refseq.proteinCoordStr_2=p.G415G;refseq.proteinCoordStr_3=p.G326G;refseq.proteinCoordStr_4=p.G415G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.spliceDist_4=-37;refseq.start_1=70435355;refseq.start_2=70435355;refseq.start_3=70435355;refseq.start_4=70435355;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT 0/1 chrX 70684538 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.588T>G;refseq.codingCoordStr_2=c.558T>G;refseq.codonCoord_1=196;refseq.codonCoord_2=186;refseq.end_1=70684538;refseq.end_2=70684538;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=826;refseq.mrnaCoord_2=796;refseq.name2_1=OGT;refseq.name2_2=OGT;refseq.name_1=NM_181672;refseq.name_2=NM_181673;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N196K;refseq.proteinCoordStr_2=p.N186K;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=57;refseq.spliceDist_2=57;refseq.start_1=70684538;refseq.start_2=70684538;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=FilteredInAll GT 1/0 chrX 70740615 . C T 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.344737;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.763C>T;refseq.codonCoord=255;refseq.end=70740615;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1264;refseq.name=NM_052957;refseq.name2=ACRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P255S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=453;refseq.start=70740615;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chrX 70740645 . C T 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.722222;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.793C>T;refseq.codonCoord=265;refseq.end=70740645;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1294;refseq.name=NM_052957;refseq.name2=ACRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.P265S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=483;refseq.start=70740645;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chrX 70740705 . T C 54 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.122622;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.853T>C;refseq.codonCoord=285;refseq.end=70740705;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1354;refseq.name=NM_052957;refseq.name2=ACRC;refseq.positionType=CDS;refseq.proteinCoordStr=p.S285P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=543;refseq.start=70740705;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chrX 70753663 . A C 80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.500000;SecondBestBaseQ=17;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.525T>G;refseq.codingCoordStr_2=c.384T>G;refseq.codonCoord_1=175;refseq.codonCoord_2=128;refseq.end_1=70753663;refseq.end_2=70753663;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=696;refseq.mrnaCoord_2=452;refseq.name2_1=CXCR3;refseq.name2_2=CXCR3;refseq.name_1=NM_001142797;refseq.name_2=NM_001504;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G175G;refseq.proteinCoordStr_2=p.G128G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=616;refseq.spliceDist_2=372;refseq.start_1=70753663;refseq.start_2=70753663;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=soap GT 0/1 chrX 71276268 . C A 41 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=15;HRun=1;RankSumP=9.06076e-06;SecondBestBaseQ=7;set=FilteredInAll GT 1/0 chrX 71276269 . T C 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=11;HRun=2;RankSumP=0.00273484;SecondBestBaseQ=5;set=FilteredInAll GT 1/0 chrX 71318332 . G A 58 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=20.29;MQ=97.53;MQ0=0;OQ=4862.62;QD=30.58;RankSumP=1.00000;SB=-118.98;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_2=c.47G>A;refseq.codingCoordStr_3=c.47G>A;refseq.codonCoord_2=16;refseq.codonCoord_3=16;refseq.end_1=71318332;refseq.end_2=71318332;refseq.end_3=71318332;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=82;refseq.mrnaCoord_2=82;refseq.mrnaCoord_3=82;refseq.name2_1=PIN4;refseq.name2_2=PIN4;refseq.name2_3=PIN4;refseq.name_1=NR_033187;refseq.name_2=NM_001170747;refseq.name_3=NM_006223;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.R16Q;refseq.proteinCoordStr_3=p.R16Q;refseq.referenceAA_2=Arg;refseq.referenceAA_3=Arg;refseq.referenceCodon_2=CGG;refseq.referenceCodon_3=CGG;refseq.spliceDist_1=-72;refseq.spliceDist_2=-72;refseq.spliceDist_3=-72;refseq.start_1=71318332;refseq.start_2=71318332;refseq.start_3=71318332;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;set=Intersection GT 1/1 chrX 71318339 . C A 92 PASS AC=2;AF=1.00;AN=2;BestBaseQ=26;DB;DP=141;Dels=0.00;HRun=0;HaplotypeScore=15.22;MQ=97.08;MQ0=0;OQ=4483.20;QD=31.80;RankSumP=1.00000;SB=-121.46;SecondBestBaseQ=2;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_2=c.54C>A;refseq.codingCoordStr_3=c.54C>A;refseq.codonCoord_2=18;refseq.codonCoord_3=18;refseq.end_1=71318339;refseq.end_2=71318339;refseq.end_3=71318339;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=89;refseq.mrnaCoord_2=89;refseq.mrnaCoord_3=89;refseq.name2_1=PIN4;refseq.name2_2=PIN4;refseq.name2_3=PIN4;refseq.name_1=NR_033187;refseq.name_2=NM_001170747;refseq.name_3=NM_006223;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S18R;refseq.proteinCoordStr_3=p.S18R;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.spliceDist_1=-65;refseq.spliceDist_2=-65;refseq.spliceDist_3=-65;refseq.start_1=71318339;refseq.start_2=71318339;refseq.start_3=71318339;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_2=AGA;refseq.variantCodon_3=AGA;set=Intersection GT 1/1 chrX 71410416 . C T 238.98 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=94.67;MQ0=3;OQ=8347.70;QD=41.53;RankSumP=1.00000;SB=-3935.79;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.492G>A;refseq.codonCoord=164;refseq.end=71410416;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=588;refseq.name=NM_001007;refseq.name2=RPS4X;refseq.positionType=CDS;refseq.proteinCoordStr=p.L164L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-41;refseq.start=71410416;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTA;set=Intersection GT 1/1 chrX 71438592 . G C 240.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=97.42;MQ0=0;OQ=1695.72;QD=42.39;RankSumP=1.00000;SB=-286.80;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.366C>G;refseq.codingCoordStr_2=c.288C>G;refseq.codingCoordStr_3=c.288C>G;refseq.codingCoordStr_4=c.288C>G;refseq.codonCoord_1=122;refseq.codonCoord_2=96;refseq.codonCoord_3=96;refseq.codonCoord_4=96;refseq.end_1=71438592;refseq.end_2=71438592;refseq.end_3=71438592;refseq.end_4=71438592;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=564;refseq.mrnaCoord_2=516;refseq.mrnaCoord_3=443;refseq.mrnaCoord_4=864;refseq.name2_1=CITED1;refseq.name2_2=CITED1;refseq.name2_3=CITED1;refseq.name2_4=CITED1;refseq.name_1=NM_001144885;refseq.name_2=NM_001144886;refseq.name_3=NM_001144887;refseq.name_4=NM_004143;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.H122Q;refseq.proteinCoordStr_2=p.H96Q;refseq.proteinCoordStr_3=p.H96Q;refseq.proteinCoordStr_4=p.H96Q;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceAA_3=His;refseq.referenceAA_4=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.referenceCodon_3=CAC;refseq.referenceCodon_4=CAC;refseq.spliceDist_1=228;refseq.spliceDist_2=228;refseq.spliceDist_3=228;refseq.spliceDist_4=228;refseq.start_1=71438592;refseq.start_2=71438592;refseq.start_3=71438592;refseq.start_4=71438592;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantAA_3=Gln;refseq.variantAA_4=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;refseq.variantCodon_3=CAG;refseq.variantCodon_4=CAG;set=Intersection GT 1/1 chrX 71717660 . A C 43.18 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=26;DP=182;Dels=0.00;HRun=2;HaplotypeScore=22.25;MQ=98.70;MQ0=0;QD=0.24;RankSumP=0.00000;SB=248.76;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.3550T>G;refseq.codingCoordStr_2=c.3373T>G;refseq.codingCoordStr_3=c.3589T>G;refseq.codonCoord_1=1184;refseq.codonCoord_2=1125;refseq.codonCoord_3=1197;refseq.end_1=71717660;refseq.end_2=71717660;refseq.end_3=71717660;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3851;refseq.mrnaCoord_2=3674;refseq.mrnaCoord_3=3890;refseq.name2_1=PHKA1;refseq.name2_2=PHKA1;refseq.name2_3=PHKA1;refseq.name_1=NM_001122670;refseq.name_2=NM_001172436;refseq.name_3=NM_002637;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F1184V;refseq.proteinCoordStr_2=p.F1125V;refseq.proteinCoordStr_3=p.F1197V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=91;refseq.spliceDist_2=91;refseq.spliceDist_3=91;refseq.start_1=71717660;refseq.start_2=71717660;refseq.start_3=71717660;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=FilteredInAll GT 0/1 chrX 71982447 . C T 32 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=1;RankSumP=0.206349;SecondBestBaseQ=23;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.140C>T;refseq.codingCoordStr_2=c.140C>T;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=71982447;refseq.end_2=71982447;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=234;refseq.mrnaCoord_2=234;refseq.name2_1=DMRTC1B;refseq.name2_2=DMRTC1;refseq.name_1=NM_001080851;refseq.name_2=NM_033053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A47V;refseq.proteinCoordStr_2=p.A47V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=71982447;refseq.start_2=71982447;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap GT 0/1 chrX 72011501 . G A 53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.238095;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.140C>T;refseq.codingCoordStr_2=c.140C>T;refseq.codonCoord_1=47;refseq.codonCoord_2=47;refseq.end_1=72011501;refseq.end_2=72011501;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=234;refseq.mrnaCoord_2=234;refseq.name2_1=DMRTC1B;refseq.name2_2=DMRTC1;refseq.name_1=NM_001080851;refseq.name_2=NM_033053;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A47V;refseq.proteinCoordStr_2=p.A47V;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.start_1=72011501;refseq.start_2=72011501;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap GT 1/0 chrX 73558294 . T C 66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=97.64;MQ0=0;OQ=102.64;QD=11.40;RankSumP=0.636905;SB=-39.67;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.319T>C;refseq.codonCoord=107;refseq.end=73558294;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=485;refseq.name=NM_006517;refseq.name2=SLC16A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S107P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-334;refseq.start=73558294;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 73660970 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.849T>G;refseq.codonCoord=283;refseq.end=73660970;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1015;refseq.name=NM_006517;refseq.name2=SLC16A2;refseq.positionType=CDS;refseq.proteinCoordStr=p.C283W;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=52;refseq.start=73660970;refseq.transcriptStrand=+;refseq.variantAA=Trp;refseq.variantCodon=TGG;set=FilteredInAll GT 1/0 chrX 73729442 . G T 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.207040;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.433C>A;refseq.codingCoordStr_2=c.433C>A;refseq.codonCoord_1=145;refseq.codonCoord_2=145;refseq.end_1=73729442;refseq.end_2=73729442;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=661;refseq.mrnaCoord_2=723;refseq.name2_1=RLIM;refseq.name2_2=RLIM;refseq.name_1=NM_016120;refseq.name_2=NM_183353;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R145S;refseq.proteinCoordStr_2=p.R145S;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=180;refseq.spliceDist_2=180;refseq.start_1=73729442;refseq.start_2=73729442;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;set=soap GT 0/1 chrX 73877749 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3368T>G;refseq.codonCoord=1123;refseq.end=73877749;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3985;refseq.name=NM_001008537;refseq.name2=KIAA2022;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1123G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-1090;refseq.start=73877749;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chrX 74411195 . T G 315.52 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=97.70;MQ0=0;OQ=3700.55;QD=39.37;RankSumP=1.00000;SB=-1476.19;SecondBestBaseQ=2;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.381T>G;refseq.codonCoord_2=127;refseq.end_1=74411195;refseq.end_2=74411195;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=577;refseq.mrnaCoord_2=577;refseq.name2_1=UPRT;refseq.name2_2=UPRT;refseq.name_1=NR_030774;refseq.name_2=NM_145052;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.R127R;refseq.referenceAA_2=Arg;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-6;refseq.spliceDist_2=-6;refseq.spliceInfo_1=splice-donor_-6;refseq.spliceInfo_2=splice-donor_-6;refseq.start_1=74411195;refseq.start_2=74411195;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Arg;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chrX 76650569 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.7395T>G;refseq.codingCoordStr_2=c.7281T>G;refseq.codonCoord_1=2465;refseq.codonCoord_2=2427;refseq.end_1=76650569;refseq.end_2=76650569;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7627;refseq.mrnaCoord_2=7513;refseq.name2_1=ATRX;refseq.name2_2=ATRX;refseq.name_1=NM_000489;refseq.name_2=NM_138270;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G2465G;refseq.proteinCoordStr_2=p.G2427G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=195;refseq.spliceDist_2=195;refseq.start_1=76650569;refseq.start_2=76650569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 76824619 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.301205;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2785C>G;refseq.codingCoordStr_2=c.2671C>G;refseq.codonCoord_1=929;refseq.codonCoord_2=891;refseq.end_1=76824619;refseq.end_2=76824619;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3017;refseq.mrnaCoord_2=2903;refseq.name2_1=ATRX;refseq.name2_2=ATRX;refseq.name_1=NM_000489;refseq.name_2=NM_138270;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q929E;refseq.proteinCoordStr_2=p.Q891E;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-952;refseq.spliceDist_2=-952;refseq.start_1=76824619;refseq.start_2=76824619;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=soap GT 0/1 chrX 77131606 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.832A>C;refseq.codonCoord=278;refseq.end=77131606;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=992;refseq.name=NM_000052;refseq.name2=ATP7A;refseq.positionType=CDS;refseq.proteinCoordStr=p.T278P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=222;refseq.start=77131606;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chrX 77414973 . G A 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=249;Dels=0.00;HRun=2;HaplotypeScore=5.98;MQ=98.92;MQ0=0;OQ=10415.14;QD=41.83;RankSumP=1.00000;SB=-5130.51;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.927C>T;refseq.codonCoord=309;refseq.end=77414973;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1327;refseq.name=NM_006639;refseq.name2=CYSLTR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F309F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=-188;refseq.start=77414973;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/1 chrX 78313644 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=557;Dels=0.00;HRun=2;HaplotypeScore=7.24;MQ=98.87;MQ0=0;OQ=11281.73;QD=20.25;RankSumP=0.0491725;SB=-3477.74;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.484T>C;refseq.codonCoord=162;refseq.end=78313644;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=520;refseq.name=NM_032553;refseq.name2=GPR174;refseq.positionType=CDS;refseq.proteinCoordStr=p.S162P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=520;refseq.start=78313644;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 79585249 . C G 255.91 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=98.91;MQ0=0;OQ=5635.27;QD=23.68;RankSumP=0.399200;SB=-2034.72;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.555C>G;refseq.codingCoordStr_2=c.555C>G;refseq.codonCoord_1=185;refseq.codonCoord_2=185;refseq.end_1=79585249;refseq.end_2=79585249;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=889;refseq.mrnaCoord_2=813;refseq.name2_1=FAM46D;refseq.name2_2=FAM46D;refseq.name_1=NM_001170574;refseq.name_2=NM_152630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.D185E;refseq.proteinCoordStr_2=p.D185E;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.spliceDist_1=573;refseq.spliceDist_2=573;refseq.start_1=79585249;refseq.start_2=79585249;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;set=Intersection GT 1/0 chrX 79585815 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1121T>C;refseq.codingCoordStr_2=c.1121T>C;refseq.codonCoord_1=374;refseq.codonCoord_2=374;refseq.end_1=79585815;refseq.end_2=79585815;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1455;refseq.mrnaCoord_2=1379;refseq.name2_1=FAM46D;refseq.name2_2=FAM46D;refseq.name_1=NM_001170574;refseq.name_2=NM_152630;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F374S;refseq.proteinCoordStr_2=p.F374S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=1139;refseq.spliceDist_2=1139;refseq.start_1=79585815;refseq.start_2=79585815;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 1/0 chrX 79830225 . T C 73 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=440;Dels=0.00;HRun=2;HaplotypeScore=9.02;MQ=98.77;MQ0=0;OQ=18479.33;QD=42.00;RankSumP=1.00000;SB=-8195.82;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3863A>G;refseq.codonCoord=1288;refseq.end=79830225;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4126;refseq.name=NM_153252;refseq.name2=BRWD3;refseq.positionType=CDS;refseq.proteinCoordStr=p.K1288R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-2;refseq.spliceInfo=splice-donor_-2;refseq.start=79830225;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/1 chrX 80256965 . C A 46.25 BadSOAPSNP;LowQual AC=2;AF=1.00;AN=2;BestBaseQ=34;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=23.12;RankSumP=1.00000;SB=-48.39;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.688G>T;refseq.codonCoord=230;refseq.end=80256965;refseq.frame=0;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1017;refseq.name=NM_030763;refseq.name2=HMGN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E230*;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=421;refseq.start=80256965;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/1 chrX 80260617 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=208;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=98.29;MQ0=0;OQ=4585.39;QD=22.05;RankSumP=0.273227;SB=-1781.18;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.99G>A;refseq.codonCoord=33;refseq.end=80260617;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=428;refseq.name=NM_030763;refseq.name2=HMGN5;refseq.positionType=CDS;refseq.proteinCoordStr=p.E33E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=24;refseq.start=80260617;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chrX 80419267 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.174A>C;refseq.codonCoord=58;refseq.end=80419267;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_003022;refseq.name2=SH3BGRL;refseq.positionType=CDS;refseq.proteinCoordStr=p.R58R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=-58;refseq.start=80419267;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=FilteredInAll GT 0/1 chrX 82650696 . A G 106.19 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=151;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=97.95;MQ0=0;OQ=5786.95;QD=38.32;RankSumP=1.00000;SB=-1684.42;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.708A>G;refseq.codonCoord=236;refseq.end=82650696;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=772;refseq.name=NM_000307;refseq.name2=POU3F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E236E;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=-736;refseq.start=82650696;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=Intersection GT 1/1 chrX 82650698 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=2.60;MQ=98.12;MQ0=0;OQ=6847.80;QD=47.23;RankSumP=1.00000;SB=-1816.23;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.710G>C;refseq.codonCoord=237;refseq.end=82650698;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=774;refseq.name=NM_000307;refseq.name2=POU3F4;refseq.positionType=CDS;refseq.proteinCoordStr=p.G237A;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-734;refseq.start=82650698;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=Intersection GT 1/1 chrX 83610966 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.421A>C;refseq.codonCoord=141;refseq.end=83610966;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=530;refseq.name=NM_144657;refseq.name2=HDX;refseq.positionType=CDS;refseq.proteinCoordStr=p.T141P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=274;refseq.start=83610966;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chrX 83610967 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=0;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.420A>C;refseq.codonCoord=140;refseq.end=83610967;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=529;refseq.name=NM_144657;refseq.name2=HDX;refseq.positionType=CDS;refseq.proteinCoordStr=p.K140N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=273;refseq.start=83610967;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chrX 84249796 . A G 110.31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=646;Dels=0.00;HRun=0;HaplotypeScore=16.48;MQ=92.32;MQ0=23;OQ=9000.15;QD=13.93;RankSumP=0.000321709;SB=-2935.50;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.835T>C;refseq.codonCoord=279;refseq.end=84249796;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=835;refseq.name=NM_001012980;refseq.name2=SATL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.W279R;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=-807;refseq.start=84249796;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=filterInsoap-gatk GT 0/1 chrX 84396928 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.87A>G;refseq.codonCoord=29;refseq.end=84396928;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_021998;refseq.name2=ZNF711;refseq.positionType=CDS;refseq.proteinCoordStr=p.G29G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=84396928;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 84409954 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.0411126;SecondBestBaseQ=13;refseq.chr=chrX;refseq.codingCoordStr=c.917-2;refseq.end=84409954;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.name=NM_021998;refseq.name2=ZNF711;refseq.positionType=intron;refseq.spliceDist=-2;refseq.spliceInfo=splice-acceptor_-2;refseq.start=84409954;refseq.transcriptStrand=+;set=FilteredInAll GT 0/1 chrX 84449791 . T A 308.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=98.87;MQ0=0;OQ=8140.66;QD=41.32;RankSumP=1.00000;SB=-1323.87;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1045A>T;refseq.codonCoord=349;refseq.end=84449791;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1191;refseq.name=NM_024921;refseq.name2=POF1B;refseq.positionType=CDS;refseq.proteinCoordStr=p.M349L;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=84449791;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/1 chrX 86773900 . C T 291.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=14.03;MQ=98.83;MQ0=0;OQ=5083.84;QD=19.55;RankSumP=0.118632;SB=-1583.00;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1359C>T;refseq.codingCoordStr_2=c.1359C>T;refseq.codonCoord_1=453;refseq.codonCoord_2=453;refseq.end_1=86773900;refseq.end_2=86773900;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1541;refseq.mrnaCoord_2=1541;refseq.name2_1=KLHL4;refseq.name2_2=KLHL4;refseq.name_1=NM_019117;refseq.name_2=NM_057162;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T453T;refseq.proteinCoordStr_2=p.T453T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=86773900;refseq.start_2=86773900;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 0/1 chrX 87895079 . A C 341.05 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1579.64;QD=41.57;RankSumP=1.00000;SB=-469.07;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.8A>C;refseq.codonCoord=3;refseq.end=87895079;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=267;refseq.name=NM_033048;refseq.name2=CPXCR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y3S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=16;refseq.start=87895079;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=Intersection GT 1/1 chrX 87895978 . A G 308.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=98.70;MQ0=0;OQ=4129.92;QD=41.30;RankSumP=1.00000;SB=-1202.96;SecondBestBaseQ=0;refseq.chr=chrX;refseq.codingCoordStr=c.*1A>G;refseq.end=87895978;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=false;refseq.mrnaCoord=1166;refseq.name=NM_033048;refseq.name2=CPXCR1;refseq.positionType=utr3;refseq.spliceDist=-464;refseq.start=87895978;refseq.transcriptStrand=+;set=Intersection GT 1/1 chrX 89064329 . G A 200.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=78.09;MQ0=1;OQ=2418.47;QD=13.66;RankSumP=0.342328;SB=-904.32;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.589G>A;refseq.codonCoord=197;refseq.end=89064329;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=638;refseq.name=NM_138960;refseq.name2=TGIF2LX;refseq.positionType=CDS;refseq.proteinCoordStr=p.V197I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-210;refseq.start=89064329;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chrX 91019096 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.266667;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.codingCoordStr_1=c.1201G>T;refseq.codingCoordStr_2=c.1201G>T;refseq.codingCoordStr_3=c.1201G>T;refseq.codingCoordStr_4=c.1201G>T;refseq.codingCoordStr_5=c.1201G>T;refseq.codingCoordStr_6=c.1201G>T;refseq.codingCoordStr_7=c.1201G>T;refseq.codingCoordStr_8=c.1201G>T;refseq.codonCoord_1=401;refseq.codonCoord_2=401;refseq.codonCoord_3=401;refseq.codonCoord_4=401;refseq.codonCoord_5=401;refseq.codonCoord_6=401;refseq.codonCoord_7=401;refseq.codonCoord_8=401;refseq.end_1=91019096;refseq.end_2=91019096;refseq.end_3=91019096;refseq.end_4=91019096;refseq.end_5=91019096;refseq.end_6=91019096;refseq.end_7=91019096;refseq.end_8=91019096;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeAlternate_5=T;refseq.haplotypeAlternate_6=T;refseq.haplotypeAlternate_7=T;refseq.haplotypeAlternate_8=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1245;refseq.mrnaCoord_2=1245;refseq.mrnaCoord_3=1245;refseq.mrnaCoord_4=1245;refseq.mrnaCoord_5=2046;refseq.mrnaCoord_6=1834;refseq.mrnaCoord_7=2046;refseq.mrnaCoord_8=2046;refseq.name2_1=PCDH11X;refseq.name2_2=PCDH11X;refseq.name2_3=PCDH11X;refseq.name2_4=PCDH11X;refseq.name2_5=PCDH11X;refseq.name2_6=PCDH11X;refseq.name2_7=PCDH11X;refseq.name2_8=PCDH11X;refseq.name_1=NM_001168360;refseq.name_2=NM_001168361;refseq.name_3=NM_001168362;refseq.name_4=NM_001168363;refseq.name_5=NM_014522;refseq.name_6=NM_032967;refseq.name_7=NM_032968;refseq.name_8=NM_032969;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.D401Y;refseq.proteinCoordStr_2=p.D401Y;refseq.proteinCoordStr_3=p.D401Y;refseq.proteinCoordStr_4=p.D401Y;refseq.proteinCoordStr_5=p.D401Y;refseq.proteinCoordStr_6=p.D401Y;refseq.proteinCoordStr_7=p.D401Y;refseq.proteinCoordStr_8=p.D401Y;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceAA_4=Asp;refseq.referenceAA_5=Asp;refseq.referenceAA_6=Asp;refseq.referenceAA_7=Asp;refseq.referenceAA_8=Asp;refseq.referenceCodon_1=GAT;refseq.referenceCodon_2=GAT;refseq.referenceCodon_3=GAT;refseq.referenceCodon_4=GAT;refseq.referenceCodon_5=GAT;refseq.referenceCodon_6=GAT;refseq.referenceCodon_7=GAT;refseq.referenceCodon_8=GAT;refseq.spliceDist_1=661;refseq.spliceDist_2=661;refseq.spliceDist_3=661;refseq.spliceDist_4=661;refseq.spliceDist_5=661;refseq.spliceDist_6=661;refseq.spliceDist_7=661;refseq.spliceDist_8=661;refseq.start_1=91019096;refseq.start_2=91019096;refseq.start_3=91019096;refseq.start_4=91019096;refseq.start_5=91019096;refseq.start_6=91019096;refseq.start_7=91019096;refseq.start_8=91019096;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantAA_4=Tyr;refseq.variantAA_5=Tyr;refseq.variantAA_6=Tyr;refseq.variantAA_7=Tyr;refseq.variantAA_8=Tyr;refseq.variantCodon_1=TAT;refseq.variantCodon_2=TAT;refseq.variantCodon_3=TAT;refseq.variantCodon_4=TAT;refseq.variantCodon_5=TAT;refseq.variantCodon_6=TAT;refseq.variantCodon_7=TAT;refseq.variantCodon_8=TAT;set=FilteredInAll GT 0/1 chrX 91020296 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.190476;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.changesAA_7=true;refseq.changesAA_8=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.codingCoordStr_1=c.2401G>A;refseq.codingCoordStr_2=c.2401G>A;refseq.codingCoordStr_3=c.2401G>A;refseq.codingCoordStr_4=c.2401G>A;refseq.codingCoordStr_5=c.2401G>A;refseq.codingCoordStr_6=c.2401G>A;refseq.codingCoordStr_7=c.2401G>A;refseq.codingCoordStr_8=c.2401G>A;refseq.codonCoord_1=801;refseq.codonCoord_2=801;refseq.codonCoord_3=801;refseq.codonCoord_4=801;refseq.codonCoord_5=801;refseq.codonCoord_6=801;refseq.codonCoord_7=801;refseq.codonCoord_8=801;refseq.end_1=91020296;refseq.end_2=91020296;refseq.end_3=91020296;refseq.end_4=91020296;refseq.end_5=91020296;refseq.end_6=91020296;refseq.end_7=91020296;refseq.end_8=91020296;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.frame_5=0;refseq.frame_6=0;refseq.frame_7=0;refseq.frame_8=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.functionalClass_7=missense;refseq.functionalClass_8=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=2445;refseq.mrnaCoord_2=2445;refseq.mrnaCoord_3=2445;refseq.mrnaCoord_4=2445;refseq.mrnaCoord_5=3246;refseq.mrnaCoord_6=3034;refseq.mrnaCoord_7=3246;refseq.mrnaCoord_8=3246;refseq.name2_1=PCDH11X;refseq.name2_2=PCDH11X;refseq.name2_3=PCDH11X;refseq.name2_4=PCDH11X;refseq.name2_5=PCDH11X;refseq.name2_6=PCDH11X;refseq.name2_7=PCDH11X;refseq.name2_8=PCDH11X;refseq.name_1=NM_001168360;refseq.name_2=NM_001168361;refseq.name_3=NM_001168362;refseq.name_4=NM_001168363;refseq.name_5=NM_014522;refseq.name_6=NM_032967;refseq.name_7=NM_032968;refseq.name_8=NM_032969;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.A801T;refseq.proteinCoordStr_2=p.A801T;refseq.proteinCoordStr_3=p.A801T;refseq.proteinCoordStr_4=p.A801T;refseq.proteinCoordStr_5=p.A801T;refseq.proteinCoordStr_6=p.A801T;refseq.proteinCoordStr_7=p.A801T;refseq.proteinCoordStr_8=p.A801T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceAA_6=Ala;refseq.referenceAA_7=Ala;refseq.referenceAA_8=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.referenceCodon_6=GCT;refseq.referenceCodon_7=GCT;refseq.referenceCodon_8=GCT;refseq.spliceDist_1=-633;refseq.spliceDist_2=-633;refseq.spliceDist_3=-633;refseq.spliceDist_4=-633;refseq.spliceDist_5=-1358;refseq.spliceDist_6=-633;refseq.spliceDist_7=-633;refseq.spliceDist_8=-633;refseq.start_1=91020296;refseq.start_2=91020296;refseq.start_3=91020296;refseq.start_4=91020296;refseq.start_5=91020296;refseq.start_6=91020296;refseq.start_7=91020296;refseq.start_8=91020296;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;refseq.variantCodon_5=ACT;refseq.variantCodon_6=ACT;refseq.variantCodon_7=ACT;refseq.variantCodon_8=ACT;set=FilteredInAll GT 1/0 chrX 92814290 . G C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=11.13;MQ=98.75;MQ0=0;OQ=17088.95;QD=48.83;RankSumP=1.00000;SB=-8517.37;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.670C>G;refseq.codonCoord=224;refseq.end=92814290;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=975;refseq.name=NM_004538;refseq.name2=NAP1L3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P224A;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=975;refseq.start=92814290;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chrX 99548574 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1678A>C;refseq.codingCoordStr_2=c.1678A>C;refseq.codonCoord_1=560;refseq.codonCoord_2=560;refseq.end_1=99548574;refseq.end_2=99548574;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3354;refseq.mrnaCoord_2=3354;refseq.name2_1=PCDH19;refseq.name2_2=PCDH19;refseq.name_1=NM_001105243;refseq.name_2=NM_020766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T560P;refseq.proteinCoordStr_2=p.T560P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=-470;refseq.spliceDist_2=-470;refseq.start_1=99548574;refseq.start_2=99548574;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 99548625 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=1053;Dels=0.00;HRun=1;HaplotypeScore=23.91;MQ=98.65;MQ0=0;OQ=20817.41;QD=19.77;RankSumP=0.000243882;SB=-7565.10;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1627C>T;refseq.codingCoordStr_2=c.1627C>T;refseq.codonCoord_1=543;refseq.codonCoord_2=543;refseq.end_1=99548625;refseq.end_2=99548625;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3303;refseq.mrnaCoord_2=3303;refseq.name2_1=PCDH19;refseq.name2_2=PCDH19;refseq.name_1=NM_001105243;refseq.name_2=NM_020766;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L543L;refseq.proteinCoordStr_2=p.L543L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=-521;refseq.spliceDist_2=-521;refseq.start_1=99548625;refseq.start_2=99548625;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=filterInsoap-gatk GT 1/0 chrX 99735673 . G A 297.47 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=248;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=98.84;MQ0=0;OQ=5519.29;QD=22.26;RankSumP=0.240439;SB=-1880.16;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.306G>A;refseq.codonCoord=102;refseq.end=99735673;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=532;refseq.name=NM_022144;refseq.name2=TNMD;refseq.positionType=CDS;refseq.proteinCoordStr=p.V102V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-16;refseq.start=99735673;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=Intersection GT 1/0 chrX 99806530 . C A 99 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=20;DP=112;Dels=0.00;HRun=1;HaplotypeScore=18.92;MQ=92.84;MQ0=0;OQ=379.97;QD=3.39;RankSumP=0.00826259;SB=59.20;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.459C>A;refseq.codonCoord=153;refseq.end=99806530;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=939;refseq.name=NM_014467;refseq.name2=SRPX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y153*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-74;refseq.start=99806530;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 1/0 chrX 99806587 . C G 40 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=2.31674e-06;SecondBestBaseQ=13;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.516C>G;refseq.codonCoord=172;refseq.end=99806587;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=996;refseq.name=NM_014467;refseq.name2=SRPX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G172G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-17;refseq.start=99806587;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 99828361 . T C 301.51 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=98.74;MQ0=0;OQ=10536.01;QD=41.32;RankSumP=1.00000;SB=-4822.81;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1258A>G;refseq.codingCoordStr_2=c.1258A>G;refseq.codingCoordStr_3=c.1258A>G;refseq.codonCoord_1=420;refseq.codonCoord_2=420;refseq.codonCoord_3=420;refseq.end_1=99828361;refseq.end_2=99828361;refseq.end_3=99828361;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1566;refseq.mrnaCoord_2=1445;refseq.mrnaCoord_3=1614;refseq.name2_1=SYTL4;refseq.name2_2=SYTL4;refseq.name2_3=SYTL4;refseq.name_1=NM_001129896;refseq.name_2=NM_001174068;refseq.name_3=NM_080737;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.I420V;refseq.proteinCoordStr_2=p.I420V;refseq.proteinCoordStr_3=p.I420V;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceCodon_1=ATT;refseq.referenceCodon_2=ATT;refseq.referenceCodon_3=ATT;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.spliceDist_3=-30;refseq.start_1=99828361;refseq.start_2=99828361;refseq.start_3=99828361;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chrX 99962070 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.9T>G;refseq.codonCoord=3;refseq.end=99962070;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=67;refseq.name=NM_001325;refseq.name2=CSTF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G3G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=-50;refseq.start=99962070;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 99963941 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.183C>T;refseq.codonCoord=61;refseq.end=99963941;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=241;refseq.name=NM_001325;refseq.name2=CSTF2;refseq.positionType=CDS;refseq.proteinCoordStr=p.F61F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=46;refseq.start=99963941;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chrX 99991517 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1196T>G;refseq.codingCoordStr_2=c.1196T>G;refseq.codonCoord_1=399;refseq.codonCoord_2=399;refseq.end_1=99991517;refseq.end_2=99991517;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1402;refseq.mrnaCoord_2=1402;refseq.name2_1=NOX1;refseq.name2_2=NOX1;refseq.name_1=NM_007052;refseq.name_2=NM_013955;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V399G;refseq.proteinCoordStr_2=p.V399G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=63;refseq.spliceDist_2=63;refseq.start_1=99991517;refseq.start_2=99991517;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 100282356 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1516T>G;refseq.codonCoord=506;refseq.end=100282356;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1786;refseq.name=NM_006733;refseq.name2=CENPI;refseq.positionType=CDS;refseq.proteinCoordStr=p.L506V;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=46;refseq.start=100282356;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chrX 100419279 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.662G>C;refseq.codingCoordStr_2=c.920G>C;refseq.codonCoord_1=221;refseq.codonCoord_2=307;refseq.end_1=100419279;refseq.end_2=100419279;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=778;refseq.mrnaCoord_2=946;refseq.name2_1=TAF7L;refseq.name2_2=TAF7L;refseq.name_1=NM_001168474;refseq.name_2=NM_024885;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S221T;refseq.proteinCoordStr_2=p.S307T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=-30;refseq.spliceDist_2=-30;refseq.start_1=100419279;refseq.start_2=100419279;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 1/0 chrX 100434589 . A G 330.78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=4.02;MQ=98.17;MQ0=0;OQ=7450.78;QD=37.82;RankSumP=1.00000;SB=-3283.81;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.101T>C;refseq.codonCoord=34;refseq.end=100434589;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=127;refseq.name=NM_024885;refseq.name2=TAF7L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L34P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=127;refseq.start=100434589;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/1 chrX 100499178 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1152A>C;refseq.codonCoord=384;refseq.end=100499178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1345;refseq.name=NM_000061;refseq.name2=BTK;refseq.positionType=CDS;refseq.proteinCoordStr=p.A384A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-26;refseq.start=100499178;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chrX 100694878 . C T 215.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=98.80;MQ0=0;OQ=1332.56;QD=15.68;RankSumP=0.0107443;SB=-350.85;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.309C>T;refseq.codonCoord=103;refseq.end=100694878;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_016608;refseq.name2=ARMCX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G103G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=431;refseq.start=100694878;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 0/1 chrX 100797722 . C T 295.65 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;OQ=2978.60;QD=41.37;RankSumP=1.00000;SB=-1225.06;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1509G>A;refseq.codingCoordStr_2=c.1509G>A;refseq.codonCoord_1=503;refseq.codonCoord_2=503;refseq.end_1=100797722;refseq.end_2=100797722;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1997;refseq.mrnaCoord_2=2048;refseq.name2_1=ARMCX2;refseq.name2_2=ARMCX2;refseq.name_1=NM_014782;refseq.name_2=NM_177949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q503Q;refseq.proteinCoordStr_2=p.Q503Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-797;refseq.spliceDist_2=-797;refseq.start_1=100797722;refseq.start_2=100797722;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/1 chrX 100977820 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=945;Dels=0.00;HRun=0;HaplotypeScore=13.49;MQ=95.53;MQ0=3;OQ=19064.87;QD=20.17;RankSumP=0.440069;SB=-6713.11;SecondBestBaseQ=32;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.end_1=100979109;refseq.end_2=100977820;refseq.haplotypeAlternate_2=*;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.inCodingRegion_1=false;refseq.mrnaCoord_2=1551;refseq.name2_1=NXF5;refseq.name2_2=NXF5;refseq.name_1=NM_032946;refseq.name_2=NR_028089;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.spliceDist_2=11;refseq.start_1=100973922;refseq.start_2=100977820;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=Intersection GT 1/0 chrX 100982138 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=18;HRun=1;RankSumP=0.833333;SecondBestBaseQ=13;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.687T>C;refseq.codonCoord_2=229;refseq.end_1=100982138;refseq.end_2=100982138;refseq.frame_2=2;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1047;refseq.mrnaCoord_2=1047;refseq.name2_1=NXF5;refseq.name2_2=NXF5;refseq.name_1=NR_028089;refseq.name_2=NM_032946;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.S229S;refseq.referenceAA_2=Ser;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-12;refseq.spliceDist_2=-12;refseq.start_1=100982138;refseq.start_2=100982138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Ser;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chrX 101025448 . T C 276.33 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=345;Dels=0.00;HRun=1;HaplotypeScore=4.55;MQ=99.00;MQ0=0;OQ=13312.12;QD=38.59;RankSumP=1.00000;SB=-5035.34;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1607A>G;refseq.codingCoordStr_2=c.1094A>G;refseq.codonCoord_1=536;refseq.codonCoord_2=365;refseq.end_1=101025448;refseq.end_2=101025448;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1655;refseq.mrnaCoord_2=4592;refseq.name2_1=ZMAT1;refseq.name2_2=ZMAT1;refseq.name_1=NM_001011657;refseq.name_2=NM_032441;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q536R;refseq.proteinCoordStr_2=p.Q365R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=1002;refseq.spliceDist_2=1002;refseq.start_1=101025448;refseq.start_2=101025448;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGG;refseq.variantCodon_2=CGG;set=Intersection GT 1/1 chrX 101268661 . G C 159.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=258.56;QD=17.24;RankSumP=0.306294;SB=-96.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.203G>C;refseq.codonCoord=68;refseq.end=101268661;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_080390;refseq.name2=TCEAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.G68A;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=230;refseq.start=101268661;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chrX 101269067 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=85.55;MQ0=9;OQ=1332.49;QD=14.33;RankSumP=0.187256;SB=-164.30;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.609T>C;refseq.codonCoord=203;refseq.end=101269067;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=828;refseq.name=NM_080390;refseq.name2=TCEAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y203Y;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-274;refseq.start=101269067;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 1/0 chrX 101269073 . G A 156.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=85.36;MQ0=6;OQ=1266.28;QD=14.72;RankSumP=0.187212;SB=-287.17;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.615G>A;refseq.codonCoord=205;refseq.end=101269073;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=834;refseq.name=NM_080390;refseq.name2=TCEAL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.R205R;refseq.referenceAA=Arg;refseq.referenceCodon=AGG;refseq.spliceDist=-268;refseq.start=101269073;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=Intersection GT 1/0 chrX 101282434 . C T 31 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.502768;SecondBestBaseQ=18;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.526G>A;refseq.codonCoord=176;refseq.end=101282434;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=687;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G176R;refseq.referenceAA=Gly;refseq.referenceCodon=GGG;refseq.spliceDist=550;refseq.start=101282434;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 0/1 chrX 101282436 . T G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.633741;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.524A>C;refseq.codonCoord=175;refseq.end=101282436;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=685;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q175P;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=548;refseq.start=101282436;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=soap GT 1/0 chrX 101282440 . C G 24 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=0.750000;SecondBestBaseQ=23;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.520G>C;refseq.codonCoord=174;refseq.end=101282440;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=681;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.A174P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=544;refseq.start=101282440;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chrX 101282652 . C T 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.470195;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.308G>A;refseq.codonCoord=103;refseq.end=101282652;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=469;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G103E;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=332;refseq.start=101282652;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=soap GT 0/1 chrX 101282686 . C T 63 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.0501932;SecondBestBaseQ=21;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.274G>A;refseq.codonCoord=92;refseq.end=101282686;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=435;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G92S;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=298;refseq.start=101282686;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=soap GT 0/1 chrX 101282732 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.228C>A;refseq.codonCoord=76;refseq.end=101282732;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=389;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.G76G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=252;refseq.start=101282732;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 0/1 chrX 101282748 . T C 85 PASS AC=1;AF=0.50;AN=2;BestBaseQ=13;HRun=1;RankSumP=0.0267964;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.212A>G;refseq.codonCoord=71;refseq.end=101282748;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=373;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K71R;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=236;refseq.start=101282748;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=soap GT 1/0 chrX 101282773 . T C 61 PASS AC=1;AF=0.50;AN=2;BestBaseQ=21;HRun=0;RankSumP=0.177310;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.187A>G;refseq.codonCoord=63;refseq.end=101282773;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=348;refseq.name=NM_001006938;refseq.name2=TCEAL6;refseq.positionType=CDS;refseq.proteinCoordStr=p.K63E;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=211;refseq.start=101282773;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap GT 1/0 chrX 101459877 . A G 64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.534632;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.590A>G;refseq.codingCoordStr_2=c.590A>G;refseq.codingCoordStr_3=c.590A>G;refseq.codonCoord_1=197;refseq.codonCoord_2=197;refseq.codonCoord_3=197;refseq.end_1=101459877;refseq.end_2=101459877;refseq.end_3=101459877;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2462;refseq.mrnaCoord_2=2354;refseq.mrnaCoord_3=828;refseq.name2_1=NXF2B;refseq.name2_2=NXF2;refseq.name2_3=NXF2;refseq.name_1=NM_001099686;refseq.name_2=NM_017809;refseq.name_3=NM_022053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.N197S;refseq.proteinCoordStr_2=p.N197S;refseq.proteinCoordStr_3=p.N197S;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceAA_3=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.referenceCodon_3=AAT;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.start_1=101459877;refseq.start_2=101459877;refseq.start_3=101459877;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;set=soap GT 0/1 chrX 101459883 . C T 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.331169;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.596C>T;refseq.codingCoordStr_2=c.596C>T;refseq.codingCoordStr_3=c.596C>T;refseq.codonCoord_1=199;refseq.codonCoord_2=199;refseq.codonCoord_3=199;refseq.end_1=101459883;refseq.end_2=101459883;refseq.end_3=101459883;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2468;refseq.mrnaCoord_2=2360;refseq.mrnaCoord_3=834;refseq.name2_1=NXF2B;refseq.name2_2=NXF2;refseq.name2_3=NXF2;refseq.name_1=NM_001099686;refseq.name_2=NM_017809;refseq.name_3=NM_022053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S199F;refseq.proteinCoordStr_2=p.S199F;refseq.proteinCoordStr_3=p.S199F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.referenceCodon_3=TCT;refseq.spliceDist_1=23;refseq.spliceDist_2=23;refseq.spliceDist_3=23;refseq.start_1=101459883;refseq.start_2=101459883;refseq.start_3=101459883;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;refseq.variantCodon_3=TTT;set=soap GT 0/1 chrX 101468060 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.0821721;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1857A>G;refseq.codingCoordStr_2=c.1857A>G;refseq.codingCoordStr_3=c.1857A>G;refseq.codonCoord_1=619;refseq.codonCoord_2=619;refseq.codonCoord_3=619;refseq.end_1=101468060;refseq.end_2=101468060;refseq.end_3=101468060;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3729;refseq.mrnaCoord_2=3621;refseq.mrnaCoord_3=2095;refseq.name2_1=NXF2B;refseq.name2_2=NXF2;refseq.name2_3=NXF2;refseq.name_1=NM_001099686;refseq.name_2=NM_017809;refseq.name_3=NM_022053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A619A;refseq.proteinCoordStr_2=p.A619A;refseq.proteinCoordStr_3=p.A619A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=101468060;refseq.start_2=101468060;refseq.start_3=101468060;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=soap GT 0/1 chrX 101502202 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.380302;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1857G>A;refseq.codingCoordStr_2=c.1857G>A;refseq.codingCoordStr_3=c.1857G>A;refseq.codonCoord_1=619;refseq.codonCoord_2=619;refseq.codonCoord_3=619;refseq.end_1=101502202;refseq.end_2=101502202;refseq.end_3=101502202;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3729;refseq.mrnaCoord_2=3621;refseq.mrnaCoord_3=2095;refseq.name2_1=NXF2B;refseq.name2_2=NXF2;refseq.name2_3=NXF2;refseq.name_1=NM_001099686;refseq.name_2=NM_017809;refseq.name_3=NM_022053;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A619A;refseq.proteinCoordStr_2=p.A619A;refseq.proteinCoordStr_3=p.A619A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.referenceCodon_3=GCG;refseq.spliceDist_1=21;refseq.spliceDist_2=21;refseq.spliceDist_3=21;refseq.start_1=101502202;refseq.start_2=101502202;refseq.start_3=101502202;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=soap GT 0/1 chrX 101656736 . C T 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.430908;SecondBestBaseQ=34;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.12G>A;refseq.codonCoord=4;refseq.end=101656736;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=135;refseq.name=NM_021992;refseq.name2=TMSB15A;refseq.positionType=CDS;refseq.proteinCoordStr=p.K4K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=29;refseq.start=101656736;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=soap GT 0/1 chrX 101796441 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=129;Dels=0.00;HRun=2;HaplotypeScore=4.47;MQ=98.64;MQ0=0;OQ=2747.95;QD=21.30;RankSumP=0.298431;SB=-856.08;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.944C>G;refseq.codingCoordStr_2=c.944C>G;refseq.codingCoordStr_3=c.944C>G;refseq.codonCoord_1=315;refseq.codonCoord_2=315;refseq.codonCoord_3=315;refseq.end_1=101796441;refseq.end_2=101796441;refseq.end_3=101796441;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1654;refseq.mrnaCoord_2=1586;refseq.mrnaCoord_3=1745;refseq.name2_1=GPRASP1;refseq.name2_2=GPRASP1;refseq.name2_3=GPRASP1;refseq.name_1=NM_001099410;refseq.name_2=NM_001099411;refseq.name_3=NM_014710;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A315G;refseq.proteinCoordStr_2=p.A315G;refseq.proteinCoordStr_3=p.A315G;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.spliceDist_1=1278;refseq.spliceDist_2=1278;refseq.spliceDist_3=1278;refseq.start_1=101796441;refseq.start_2=101796441;refseq.start_3=101796441;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=Intersection GT 1/0 chrX 101798074 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.2577A>G;refseq.codingCoordStr_2=c.2577A>G;refseq.codingCoordStr_3=c.2577A>G;refseq.codonCoord_1=859;refseq.codonCoord_2=859;refseq.codonCoord_3=859;refseq.end_1=101798074;refseq.end_2=101798074;refseq.end_3=101798074;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3287;refseq.mrnaCoord_2=3219;refseq.mrnaCoord_3=3378;refseq.name2_1=GPRASP1;refseq.name2_2=GPRASP1;refseq.name2_3=GPRASP1;refseq.name_1=NM_001099410;refseq.name_2=NM_001099411;refseq.name_3=NM_014710;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G859G;refseq.proteinCoordStr_2=p.G859G;refseq.proteinCoordStr_3=p.G859G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-2593;refseq.spliceDist_2=-2593;refseq.spliceDist_3=-2593;refseq.start_1=101798074;refseq.start_2=101798074;refseq.start_3=101798074;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 0/1 chrX 102642207 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=440;Dels=0.00;HRun=1;HaplotypeScore=30.91;MQ=89.76;MQ0=9;OQ=7018.29;QD=15.95;RankSumP=0.406670;SB=-1154.68;SecondBestBaseQ=28;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.134A>T;refseq.codonCoord=45;refseq.end=102642207;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=476;refseq.name=NM_080879;refseq.name2=RAB40A;refseq.positionType=CDS;refseq.proteinCoordStr=p.H45L;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=204;refseq.start=102642207;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=Intersection GT 1/0 chrX 102728325 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.66A>C;refseq.codingCoordStr_2=c.66A>C;refseq.codingCoordStr_3=c.66A>C;refseq.codingCoordStr_4=c.66A>C;refseq.codonCoord_1=22;refseq.codonCoord_2=22;refseq.codonCoord_3=22;refseq.codonCoord_4=22;refseq.end_1=102728325;refseq.end_2=102728325;refseq.end_3=102728325;refseq.end_4=102728325;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=300;refseq.mrnaCoord_2=299;refseq.mrnaCoord_3=295;refseq.mrnaCoord_4=359;refseq.name2_1=TCEAL4;refseq.name2_2=TCEAL4;refseq.name2_3=TCEAL4;refseq.name2_4=TCEAL4;refseq.name_1=NM_001006935;refseq.name_2=NM_001006936;refseq.name_3=NM_001006937;refseq.name_4=NM_024863;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.E22D;refseq.proteinCoordStr_2=p.E22D;refseq.proteinCoordStr_3=p.E22D;refseq.proteinCoordStr_4=p.E22D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceAA_4=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.referenceCodon_4=GAA;refseq.spliceDist_1=93;refseq.spliceDist_2=93;refseq.spliceDist_3=88;refseq.spliceDist_4=93;refseq.start_1=102728325;refseq.start_2=102728325;refseq.start_3=102728325;refseq.start_4=102728325;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantAA_3=Asp;refseq.variantAA_4=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;refseq.variantCodon_3=GAC;refseq.variantCodon_4=GAC;set=FilteredInAll GT 0/1 chrX 102750876 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.228C>A;refseq.codingCoordStr_2=c.228C>A;refseq.codonCoord_1=76;refseq.codonCoord_2=76;refseq.end_1=102750876;refseq.end_2=102750876;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=490;refseq.mrnaCoord_2=478;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G76G;refseq.proteinCoordStr_2=p.G76G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=255;refseq.spliceDist_2=255;refseq.start_1=102750876;refseq.start_2=102750876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=FilteredInAll GT 1/0 chrX 102750922 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=1;RankSumP=0.000161306;SecondBestBaseQ=13;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.274A>G;refseq.codingCoordStr_2=c.274A>G;refseq.codonCoord_1=92;refseq.codonCoord_2=92;refseq.end_1=102750922;refseq.end_2=102750922;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=536;refseq.mrnaCoord_2=524;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S92G;refseq.proteinCoordStr_2=p.S92G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=301;refseq.spliceDist_2=301;refseq.start_1=102750922;refseq.start_2=102750922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 0/1 chrX 102750956 . A G 92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.0227068;SecondBestBaseQ=27;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.308A>G;refseq.codingCoordStr_2=c.308A>G;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.end_1=102750956;refseq.end_2=102750956;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=570;refseq.mrnaCoord_2=558;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E103G;refseq.proteinCoordStr_2=p.E103G;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.spliceDist_1=335;refseq.spliceDist_2=335;refseq.start_1=102750956;refseq.start_2=102750956;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;set=soap GT 0/1 chrX 102750990 . G A 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=4.34865e-08;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.342G>A;refseq.codingCoordStr_2=c.342G>A;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=102750990;refseq.end_2=102750990;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=604;refseq.mrnaCoord_2=592;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T114T;refseq.proteinCoordStr_2=p.T114T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=369;refseq.spliceDist_2=369;refseq.start_1=102750990;refseq.start_2=102750990;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;set=FilteredInAll GT 1/0 chrX 102751038 . G A 72 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.238361;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.390G>A;refseq.codingCoordStr_2=c.390G>A;refseq.codonCoord_1=130;refseq.codonCoord_2=130;refseq.end_1=102751038;refseq.end_2=102751038;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=652;refseq.mrnaCoord_2=640;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q130Q;refseq.proteinCoordStr_2=p.Q130Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=417;refseq.spliceDist_2=417;refseq.start_1=102751038;refseq.start_2=102751038;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=soap GT 1/0 chrX 102751098 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.225947;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.450A>G;refseq.codingCoordStr_2=c.450A>G;refseq.codonCoord_1=150;refseq.codonCoord_2=150;refseq.end_1=102751098;refseq.end_2=102751098;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=712;refseq.mrnaCoord_2=700;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q150Q;refseq.proteinCoordStr_2=p.Q150Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.spliceDist_1=-414;refseq.spliceDist_2=-414;refseq.start_1=102751098;refseq.start_2=102751098;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAG;refseq.variantCodon_2=CAG;set=soap GT 0/1 chrX 102751221 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=589;Dels=0.00;HRun=1;HaplotypeScore=12.76;MQ=79.48;MQ0=9;OQ=10036.92;QD=17.04;RankSumP=0.443277;SB=-1285.21;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.573G>A;refseq.codingCoordStr_2=c.573G>A;refseq.codonCoord_1=191;refseq.codonCoord_2=191;refseq.end_1=102751221;refseq.end_2=102751221;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=835;refseq.mrnaCoord_2=823;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Q191Q;refseq.proteinCoordStr_2=p.Q191Q;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceCodon_1=CAG;refseq.referenceCodon_2=CAG;refseq.spliceDist_1=-291;refseq.spliceDist_2=-291;refseq.start_1=102751221;refseq.start_2=102751221;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gln;refseq.variantAA_2=Gln;refseq.variantCodon_1=CAA;refseq.variantCodon_2=CAA;set=Intersection GT 1/0 chrX 102751224 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=563;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=79.81;MQ0=9;OQ=9776.57;QD=17.37;RankSumP=0.353338;SB=-1130.28;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.576G>A;refseq.codingCoordStr_2=c.576G>A;refseq.codonCoord_1=192;refseq.codonCoord_2=192;refseq.end_1=102751224;refseq.end_2=102751224;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=838;refseq.mrnaCoord_2=826;refseq.name2_1=TCEAL3;refseq.name2_2=TCEAL3;refseq.name_1=NM_001006933;refseq.name_2=NM_032926;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R192R;refseq.proteinCoordStr_2=p.R192R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-288;refseq.spliceDist_2=-288;refseq.start_1=102751224;refseq.start_2=102751224;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/0 chrX 102863837 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.617A>G;refseq.codonCoord=206;refseq.end=102863837;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1038;refseq.name=NM_001172285;refseq.name2=GLRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E206G;refseq.referenceAA=Glu;refseq.referenceCodon=GAA;refseq.spliceDist=40;refseq.start=102863837;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=FilteredInAll GT 1/0 chrX 102866142 . T C 133.29 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=181;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=98.92;MQ0=0;OQ=2195.18;QD=12.13;RankSumP=0.383577;SB=-1104.36;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.253A>G;refseq.codonCoord=85;refseq.end=102866142;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=674;refseq.name=NM_001172285;refseq.name2=GLRA4;refseq.positionType=CDS;refseq.proteinCoordStr=p.I85V;refseq.referenceAA=Ile;refseq.referenceCodon=ATC;refseq.spliceDist=-18;refseq.start=102866142;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chrX 102929476 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.547A>C;refseq.codingCoordStr_2=c.547A>C;refseq.codingCoordStr_3=c.442A>C;refseq.codonCoord_1=183;refseq.codonCoord_2=183;refseq.codonCoord_3=148;refseq.end_1=102929476;refseq.end_2=102929476;refseq.end_3=102929476;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=717;refseq.mrnaCoord_2=827;refseq.mrnaCoord_3=612;refseq.name2_1=PLP1;refseq.name2_2=PLP1;refseq.name2_3=PLP1;refseq.name_1=NM_000533;refseq.name_2=NM_001128834;refseq.name_3=NM_199478;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.T183P;refseq.proteinCoordStr_2=p.T183P;refseq.proteinCoordStr_3=p.T148P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.referenceCodon_3=ACC;refseq.spliceDist_1=-76;refseq.spliceDist_2=-76;refseq.spliceDist_3=-76;refseq.start_1=102929476;refseq.start_2=102929476;refseq.start_3=102929476;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;set=FilteredInAll GT 0/1 chrX 103154521 . C T 430.67 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=97.45;MQ0=0;OQ=3520.38;QD=36.67;RankSumP=1.00000;SB=-1701.71;SecondBestBaseQ=10;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.368G>A;refseq.codonCoord=123;refseq.end=103154521;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=392;refseq.name=NM_001002916;refseq.name2=H2BFWT;refseq.positionType=CDS;refseq.proteinCoordStr=p.R123H;refseq.referenceAA=Arg;refseq.referenceCodon=CGC;refseq.spliceDist=-124;refseq.start=103154521;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAC;set=Intersection GT 1/1 chrX 103386145 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.42C>A;refseq.codonCoord=14;refseq.end=103386145;refseq.frame=2;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=111;refseq.name=NM_153448;refseq.name2=ESX1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y14*;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-41;refseq.start=103386145;refseq.transcriptStrand=-;refseq.variantAA=Stop;refseq.variantCodon=TAA;set=FilteredInAll GT 0/1 chrX 104871280 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.988A>C;refseq.codonCoord=330;refseq.end=104871280;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1744;refseq.name=NM_017416;refseq.name2=IL1RAPL2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T330P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-61;refseq.start=104871280;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 105741999 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.33T>G;refseq.codonCoord=11;refseq.end=105741999;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_018015;refseq.name2=CXorf57;refseq.positionType=CDS;refseq.proteinCoordStr=p.G11G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=184;refseq.start=105741999;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 106086858 . G A 253.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=217;Dels=0.00;HRun=1;HaplotypeScore=5.95;MQ=98.50;MQ0=0;OQ=4546.16;QD=20.95;RankSumP=0.235660;SB=-1803.85;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1418C>T;refseq.codingCoordStr_2=c.1418C>T;refseq.codonCoord_1=473;refseq.codonCoord_2=473;refseq.end_1=106086858;refseq.end_2=106086858;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1693;refseq.mrnaCoord_2=1693;refseq.name2_1=MORC4;refseq.name2_2=MORC4;refseq.name_1=NM_001085354;refseq.name_2=NM_024657;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T473I;refseq.proteinCoordStr_2=p.T473I;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACT;refseq.referenceCodon_2=ACT;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.start_1=106086858;refseq.start_2=106086858;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATT;refseq.variantCodon_2=ATT;set=Intersection GT 1/0 chrX 106970731 . A C 102.28 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=518;Dels=0.00;HRun=1;HaplotypeScore=10.62;MQ=98.54;MQ0=0;OQ=9113.68;QD=17.59;RankSumP=0.248793;SB=-2765.61;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.180A>C;refseq.codingCoordStr_2=c.180A>C;refseq.codonCoord_1=60;refseq.codonCoord_2=60;refseq.end_1=106970731;refseq.end_2=106970731;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=753;refseq.mrnaCoord_2=753;refseq.name2_1=MID2;refseq.name2_2=MID2;refseq.name_1=NM_012216;refseq.name_2=NM_052817;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S60S;refseq.proteinCoordStr_2=p.S60S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=176;refseq.spliceDist_2=176;refseq.start_1=106970731;refseq.start_2=106970731;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=Intersection GT 0/1 chrX 107217980 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.219T>G;refseq.codingCoordStr_2=c.219T>G;refseq.codonCoord_1=73;refseq.codonCoord_2=73;refseq.end_1=107217980;refseq.end_2=107217980;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=317;refseq.mrnaCoord_2=317;refseq.name2_1=PSMD10;refseq.name2_2=PSMD10;refseq.name_1=NM_002814;refseq.name_2=NM_170750;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G73G;refseq.proteinCoordStr_2=p.G73G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=107217980;refseq.start_2=107217980;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 107287038 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.4924A>C;refseq.codingCoordStr_2=c.4921A>C;refseq.codonCoord_1=1642;refseq.codonCoord_2=1641;refseq.end_1=107287038;refseq.end_2=107287038;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5027;refseq.mrnaCoord_2=5153;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T1642P;refseq.proteinCoordStr_2=p.T1641P;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACC;refseq.referenceCodon_2=ACC;refseq.spliceDist_1=109;refseq.spliceDist_2=109;refseq.start_1=107287038;refseq.start_2=107287038;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 107289444 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=3;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.4719A>C;refseq.codingCoordStr_2=c.4716A>C;refseq.codonCoord_1=1573;refseq.codonCoord_2=1572;refseq.end_1=107289444;refseq.end_2=107289444;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4822;refseq.mrnaCoord_2=4948;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A1573A;refseq.proteinCoordStr_2=p.A1572A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.spliceDist_1=-97;refseq.spliceDist_2=-97;refseq.start_1=107289444;refseq.start_2=107289444;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 1/0 chrX 107304386 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=148;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=98.87;MQ0=0;OQ=2170.19;QD=14.66;RankSumP=0.279741;SB=-1058.03;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.3081C>T;refseq.codingCoordStr_2=c.3078C>T;refseq.codonCoord_1=1027;refseq.codonCoord_2=1026;refseq.end_1=107304386;refseq.end_2=107304386;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3184;refseq.mrnaCoord_2=3310;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G1027G;refseq.proteinCoordStr_2=p.G1026G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=-61;refseq.spliceDist_2=-61;refseq.start_1=107304386;refseq.start_2=107304386;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=Intersection GT 1/0 chrX 107304488 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2979T>G;refseq.codingCoordStr_2=c.2976T>G;refseq.codonCoord_1=993;refseq.codonCoord_2=992;refseq.end_1=107304488;refseq.end_2=107304488;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3082;refseq.mrnaCoord_2=3208;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G993G;refseq.proteinCoordStr_2=p.G992G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=20;refseq.spliceDist_2=20;refseq.start_1=107304488;refseq.start_2=107304488;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 107305562 . A G 335.75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=162;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=98.98;MQ0=0;OQ=6274.47;QD=38.73;RankSumP=1.00000;SB=-2911.17;SecondBestBaseQ=23;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2811T>C;refseq.codingCoordStr_2=c.2808T>C;refseq.codonCoord_1=937;refseq.codonCoord_2=936;refseq.end_1=107305562;refseq.end_2=107305562;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2914;refseq.mrnaCoord_2=3040;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R937R;refseq.proteinCoordStr_2=p.R936R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=CGT;refseq.referenceCodon_2=CGT;refseq.spliceDist_1=-23;refseq.spliceDist_2=-23;refseq.start_1=107305562;refseq.start_2=107305562;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;set=Intersection GT 1/1 chrX 107320344 . A G 279.96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=264;Dels=0.00;HRun=1;HaplotypeScore=4.45;MQ=98.51;MQ0=0;OQ=4699.96;QD=17.80;RankSumP=0.248498;SB=-1637.04;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1363T>C;refseq.codingCoordStr_2=c.1360T>C;refseq.codonCoord_1=455;refseq.codonCoord_2=454;refseq.end_1=107320344;refseq.end_2=107320344;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1466;refseq.mrnaCoord_2=1592;refseq.name2_1=COL4A6;refseq.name2_2=COL4A6;refseq.name_1=NM_001847;refseq.name_2=NM_033641;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S455P;refseq.proteinCoordStr_2=p.S454P;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCA;refseq.referenceCodon_2=TCA;refseq.spliceDist_1=39;refseq.spliceDist_2=39;refseq.start_1=107320344;refseq.start_2=107320344;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCA;refseq.variantCodon_2=CCA;set=Intersection GT 0/1 chrX 107863050 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=5;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3181T>C;refseq.codonCoord=1061;refseq.end=107863050;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3214;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1061P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=-668;refseq.start=107863050;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 107863596 . G C 175.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=362;Dels=0.00;HRun=0;HaplotypeScore=7.06;MQ=98.94;MQ0=0;OQ=8973.73;QD=24.79;RankSumP=0.388052;SB=-3408.24;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2635C>G;refseq.codonCoord=879;refseq.end=107863596;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2668;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.H879D;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1214;refseq.start=107863596;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 0/1 chrX 107864998 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=145;Dels=0.00;HRun=0;HaplotypeScore=5.54;MQ=98.16;MQ0=0;OQ=2030.24;QD=14.00;RankSumP=0.0443473;SB=-1023.90;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1233A>T;refseq.codonCoord=411;refseq.end=107864998;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1266;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R411R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1266;refseq.start=107864998;refseq.transcriptStrand=-;refseq.variantAA=Arg;refseq.variantCodon=CGT;set=Intersection GT 1/0 chrX 107864999 . C T 123.78 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=147;Dels=0.00;HRun=1;HaplotypeScore=5.54;MQ=98.17;MQ0=0;OQ=2221.15;QD=15.11;RankSumP=0.0523975;SB=-1016.95;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1232G>A;refseq.codonCoord=411;refseq.end=107864999;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1265;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.R411Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=1265;refseq.start=107864999;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAA;set=Intersection GT 0/1 chrX 107866093 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=94.32;MQ0=0;OQ=677.86;QD=15.76;RankSumP=0.645468;SB=-249.24;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.138C>T;refseq.codonCoord=46;refseq.end=107866093;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=171;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.T46T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=171;refseq.start=107866093;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACT;set=Intersection GT 1/0 chrX 107866131 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=6.70;MQ=92.67;MQ0=0;OQ=663.69;QD=14.12;RankSumP=0.685849;SB=-153.16;SecondBestBaseQ=24;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.100C>T;refseq.codonCoord=34;refseq.end=107866131;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=133;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.L34F;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=133;refseq.start=107866131;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 1/0 chrX 107866168 . C T 160.95 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=95.93;MQ0=0;OQ=930.21;QD=14.09;RankSumP=0.137469;SB=-364.51;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.63G>A;refseq.codonCoord=21;refseq.end=107866168;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=96;refseq.name=NM_003604;refseq.name2=IRS4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A21A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=96;refseq.start=107866168;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=Intersection GT 0/1 chrX 108505793 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3318C>A;refseq.codonCoord=1106;refseq.end=108505793;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3594;refseq.name=NM_001522;refseq.name2=GUCY2F;refseq.positionType=CDS;refseq.proteinCoordStr=p.N1106K;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=-11;refseq.start=108505793;refseq.transcriptStrand=-;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=FilteredInAll GT 0/1 chrX 108595089 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=710;Dels=0.00;HRun=1;HaplotypeScore=11.28;MQ=98.67;MQ0=0;OQ=15640.24;QD=22.03;RankSumP=0.487087;SB=-6339.71;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.970T>C;refseq.codonCoord=324;refseq.end=108595089;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1246;refseq.name=NM_001522;refseq.name2=GUCY2F;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y324H;refseq.referenceAA=Tyr;refseq.referenceCodon=TAT;refseq.spliceDist=-63;refseq.start=108595089;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chrX 108595172 . C T 132.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=500;Dels=0.00;HRun=0;HaplotypeScore=9.38;MQ=98.88;MQ0=0;OQ=21514.10;QD=43.03;RankSumP=1.00000;SB=-9763.13;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.887G>A;refseq.codonCoord=296;refseq.end=108595172;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1163;refseq.name=NM_001522;refseq.name2=GUCY2F;refseq.positionType=CDS;refseq.proteinCoordStr=p.R296Q;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-146;refseq.start=108595172;refseq.transcriptStrand=-;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chrX 108665849 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.82A>C;refseq.codonCoord=28;refseq.end=108665849;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=184;refseq.name=NM_018698;refseq.name2=NXT2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T28P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=-14;refseq.start=108665849;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 108754819 . C A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=20;HRun=2;RankSumP=0.000468186;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.87G>T;refseq.codonCoord=29;refseq.end=108754819;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=231;refseq.name=NM_012282;refseq.name2=KCNE1L;refseq.positionType=CDS;refseq.proteinCoordStr=p.L29F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=231;refseq.start=108754819;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chrX 108807972 . G T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=23;HRun=1;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.831C>A;refseq.codingCoordStr_2=c.954C>A;refseq.codonCoord_1=277;refseq.codonCoord_2=318;refseq.end_1=108807972;refseq.end_2=108807972;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1147;refseq.mrnaCoord_2=1459;refseq.name2_1=ACSL4;refseq.name2_2=ACSL4;refseq.name_1=NM_004458;refseq.name_2=NM_022977;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y277*;refseq.proteinCoordStr_2=p.Y318*;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=25;refseq.spliceDist_2=25;refseq.start_1=108807972;refseq.start_2=108807972;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAA;refseq.variantCodon_2=TAA;set=FilteredInAll GT 0/1 chrX 109581341 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=24;DB;DP=434;Dels=0.00;HRun=1;HaplotypeScore=26.59;MQ=98.53;MQ0=0;OQ=6747.66;QD=15.55;RankSumP=0.218436;SB=-2205.56;SecondBestBaseQ=26;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.840T>A;refseq.codonCoord=280;refseq.end=109581341;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1086;refseq.name=NM_020769;refseq.name2=RGAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G280G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=891;refseq.start=109581341;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGA;set=Intersection GT 1/0 chrX 109582053 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1552A>C;refseq.codonCoord=518;refseq.end=109582053;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1798;refseq.name=NM_020769;refseq.name2=RGAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T518P;refseq.referenceAA=Thr;refseq.referenceCodon=ACA;refseq.spliceDist=1603;refseq.start=109582053;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 0/1 chrX 109582346 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1845C>A;refseq.codonCoord=615;refseq.end=109582346;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2091;refseq.name=NM_020769;refseq.name2=RGAG1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S615S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=1896;refseq.start=109582346;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=FilteredInAll GT 1/0 chrX 109818512 . T C 158.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=850.49;QD=15.19;RankSumP=0.425671;SB=-378.39;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.954A>G;refseq.codingCoordStr_2=c.951A>G;refseq.codingCoordStr_3=c.714A>G;refseq.codingCoordStr_4=c.951A>G;refseq.codonCoord_1=318;refseq.codonCoord_2=317;refseq.codonCoord_3=238;refseq.codonCoord_4=317;refseq.end_1=109818512;refseq.end_2=109818512;refseq.end_3=109818512;refseq.end_4=109818512;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1303;refseq.mrnaCoord_2=1300;refseq.mrnaCoord_3=1063;refseq.mrnaCoord_4=1148;refseq.name2_1=CHRDL1;refseq.name2_2=CHRDL1;refseq.name2_3=CHRDL1;refseq.name2_4=CHRDL1;refseq.name_1=NM_001143981;refseq.name_2=NM_001143982;refseq.name_3=NM_001143983;refseq.name_4=NM_145234;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.K318K;refseq.proteinCoordStr_2=p.K317K;refseq.proteinCoordStr_3=p.K238K;refseq.proteinCoordStr_4=p.K317K;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.referenceCodon_3=AAA;refseq.referenceCodon_4=AAA;refseq.spliceDist_1=-35;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=109818512;refseq.start_2=109818512;refseq.start_3=109818512;refseq.start_4=109818512;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;refseq.variantCodon_3=AAG;refseq.variantCodon_4=AAG;set=Intersection GT 1/0 chrX 110350321 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.changesAA_6=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.codingCoordStr_1=c.1625G>C;refseq.codingCoordStr_2=c.1625G>C;refseq.codingCoordStr_3=c.1733G>C;refseq.codingCoordStr_4=c.1688G>C;refseq.codingCoordStr_5=c.1670G>C;refseq.codingCoordStr_6=c.1625G>C;refseq.codonCoord_1=542;refseq.codonCoord_2=542;refseq.codonCoord_3=578;refseq.codonCoord_4=563;refseq.codonCoord_5=557;refseq.codonCoord_6=542;refseq.end_1=110350321;refseq.end_2=110350321;refseq.end_3=110350321;refseq.end_4=110350321;refseq.end_5=110350321;refseq.end_6=110350321;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.frame_6=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.functionalClass_6=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2069;refseq.mrnaCoord_2=1996;refseq.mrnaCoord_3=1760;refseq.mrnaCoord_4=1715;refseq.mrnaCoord_5=1697;refseq.mrnaCoord_6=2246;refseq.name2_1=PAK3;refseq.name2_2=PAK3;refseq.name2_3=PAK3;refseq.name2_4=PAK3;refseq.name2_5=PAK3;refseq.name2_6=PAK3;refseq.name_1=NM_001128166;refseq.name_2=NM_001128167;refseq.name_3=NM_001128168;refseq.name_4=NM_001128172;refseq.name_5=NM_001128173;refseq.name_6=NM_002578;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.S542T;refseq.proteinCoordStr_2=p.S542T;refseq.proteinCoordStr_3=p.S578T;refseq.proteinCoordStr_4=p.S563T;refseq.proteinCoordStr_5=p.S557T;refseq.proteinCoordStr_6=p.S542T;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceAA_6=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.referenceCodon_5=AGC;refseq.referenceCodon_6=AGC;refseq.spliceDist_1=80;refseq.spliceDist_2=80;refseq.spliceDist_3=80;refseq.spliceDist_4=80;refseq.spliceDist_5=80;refseq.spliceDist_6=80;refseq.start_1=110350321;refseq.start_2=110350321;refseq.start_3=110350321;refseq.start_4=110350321;refseq.start_5=110350321;refseq.start_6=110350321;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;refseq.variantCodon_5=ACC;refseq.variantCodon_6=ACC;set=FilteredInAll GT 0/1 chrX 110906233 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2886T>G;refseq.codonCoord=962;refseq.end=110906233;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3805;refseq.name=NM_012471;refseq.name2=TRPC5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G962G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=654;refseq.start=110906233;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 111584692 . T C 104.35 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=6.47;MQ=98.94;MQ0=0;OQ=1837.15;QD=12.41;RankSumP=0.378950;SB=-731.00;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.80T>C;refseq.codonCoord=27;refseq.end=111584692;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=521;refseq.name=NM_001004308;refseq.name2=ZCCHC16;refseq.positionType=CDS;refseq.proteinCoordStr=p.L27P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=309;refseq.start=111584692;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 111585096 . G T 367.94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=258;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=98.98;MQ0=0;OQ=5160.32;QD=20.00;RankSumP=0.409809;SB=-2187.27;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.484G>T;refseq.codonCoord=162;refseq.end=111585096;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_001004308;refseq.name2=ZCCHC16;refseq.positionType=CDS;refseq.proteinCoordStr=p.D162Y;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=713;refseq.start=111585096;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAC;set=Intersection GT 0/1 chrX 111909294 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=22;HRun=0;RankSumP=0.163636;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2744T>C;refseq.codingCoordStr_2=c.1517T>C;refseq.codonCoord_1=915;refseq.codonCoord_2=506;refseq.end_1=111909294;refseq.end_2=111909294;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2744;refseq.mrnaCoord_2=2313;refseq.name2_1=AMOT;refseq.name2_2=AMOT;refseq.name_1=NM_001113490;refseq.name_2=NM_133265;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V915A;refseq.proteinCoordStr_2=p.V506A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=271;refseq.spliceDist_2=271;refseq.start_1=111909294;refseq.start_2=111909294;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 0/1 chrX 111909300 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=0;RankSumP=0.200000;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2738T>C;refseq.codingCoordStr_2=c.1511T>C;refseq.codonCoord_1=913;refseq.codonCoord_2=504;refseq.end_1=111909300;refseq.end_2=111909300;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2738;refseq.mrnaCoord_2=2307;refseq.name2_1=AMOT;refseq.name2_2=AMOT;refseq.name_1=NM_001113490;refseq.name_2=NM_133265;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V913A;refseq.proteinCoordStr_2=p.V504A;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=265;refseq.spliceDist_2=265;refseq.start_1=111909300;refseq.start_2=111909300;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCT;refseq.variantCodon_2=GCT;set=FilteredInAll GT 0/1 chrX 114447283 . A G 213.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=98.01;MQ0=0;OQ=2396.64;QD=19.97;RankSumP=0.280187;SB=-995.66;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.600A>G;refseq.codonCoord=200;refseq.end=114447283;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=634;refseq.name=NM_016383;refseq.name2=LUZP4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q200Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=258;refseq.start=114447283;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chrX 115486205 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.258T>G;refseq.codonCoord=86;refseq.end=115486205;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=362;refseq.name=NM_007231;refseq.name2=SLC6A14;refseq.positionType=CDS;refseq.proteinCoordStr=p.G86G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=44;refseq.start=115486205;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 117645530 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=373;Dels=0.00;HRun=2;HaplotypeScore=38.77;MQ=97.13;MQ0=0;OQ=478.82;QD=1.28;RankSumP=0.00000;SB=582.91;SecondBestBaseQ=22;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.3624A>C;refseq.codonCoord=1208;refseq.end=117645530;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=3687;refseq.name=NM_144658;refseq.name2=DOCK11;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1208S;refseq.referenceAA=Ser;refseq.referenceCodon=TCA;refseq.spliceDist=36;refseq.start=117645530;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 0/1 chrX 117992813 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=138;Dels=0.00;HRun=1;HaplotypeScore=3.35;MQ=98.39;MQ0=0;OQ=1415.69;QD=10.26;RankSumP=0.217290;SB=-591.43;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.42T>C;refseq.codingCoordStr_2=c.42T>C;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=117992813;refseq.end_2=117992813;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=73;refseq.mrnaCoord_2=73;refseq.name2_1=LONRF3;refseq.name2_2=LONRF3;refseq.name_1=NM_001031855;refseq.name_2=NM_024778;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A14A;refseq.proteinCoordStr_2=p.A14A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.spliceDist_1=73;refseq.spliceDist_2=73;refseq.start_1=117992813;refseq.start_2=117992813;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=Intersection GT 1/0 chrX 118417394 . G A 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=31;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chrX;refseq.codingCoordStr=c.-1G>A;refseq.end=118417394;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=false;refseq.mrnaCoord=109;refseq.name=NM_145305;refseq.name2=SLC25A43;refseq.positionType=utr5;refseq.spliceDist=109;refseq.start=118417394;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chrX 118471031 . C T 183.23 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=99.00;MQ0=0;OQ=1252.91;QD=14.24;RankSumP=0.275492;SB=-486.90;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1001C>T;refseq.codonCoord=334;refseq.end=118471031;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1110;refseq.name=NM_145305;refseq.name2=SLC25A43;refseq.positionType=CDS;refseq.proteinCoordStr=p.P334L;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=176;refseq.start=118471031;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 0/1 chrX 118487801 . T C 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=334;Dels=0.00;HRun=0;HaplotypeScore=8.88;MQ=83.13;MQ0=2;OQ=512.13;QD=1.53;SB=-96.86;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.261T>C;refseq.codonCoord=87;refseq.end=118487801;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_001152;refseq.name2=SLC25A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L87L;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=150;refseq.start=118487801;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:296,38:326:-152.67,-98.18,-1222.66:99 chrX 118487846 . T G 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=499;Dels=0.00;HRun=2;HaplotypeScore=16.41;MQ=90.07;MQ0=3;OQ=686.31;QD=1.38;SB=-125.44;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.306T>G;refseq.codonCoord=102;refseq.end=118487846;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=422;refseq.name=NM_001152;refseq.name2=SLC25A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.G102G;refseq.referenceAA=Gly;refseq.referenceCodon=GGT;refseq.spliceDist=195;refseq.start=118487846;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:433,64:469:-213.16,-141.25,-1575.83:99 chrX 118487858 . A G 0.01 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=550;Dels=0.00;HRun=1;HaplotypeScore=21.77;MQ=92.25;MQ0=3;OQ=423.23;QD=0.77;SB=-0.88;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.318A>G;refseq.codonCoord=106;refseq.end=118487858;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=434;refseq.name=NM_001152;refseq.name2=SLC25A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.R106R;refseq.referenceAA=Arg;refseq.referenceCodon=AGA;refseq.spliceDist=207;refseq.start=118487858;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:494,55:515:-200.70,-155.09,-2018.89:99 chrX 118487872 . T G 37.42 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=600;Dels=0.00;HRun=0;HaplotypeScore=9.17;MQ=93.49;MQ0=3;OQ=18768.27;QD=31.28;RankSumP=1.00000;SB=-6874.68;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.332T>G;refseq.codonCoord=111;refseq.end=118487872;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=448;refseq.name=NM_001152;refseq.name2=SLC25A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.L111R;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=221;refseq.start=118487872;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGC;set=filterInsoap-gatk GT 1/1 chrX 118488464 . T C 96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=18.09;MQ=97.88;MQ0=0;OQ=12723.68;QD=36.67;RankSumP=1.00000;SB=-4885.45;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.699T>C;refseq.codonCoord=233;refseq.end=118488464;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=815;refseq.name=NM_001152;refseq.name2=SLC25A5;refseq.positionType=CDS;refseq.proteinCoordStr=p.T233T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-41;refseq.start=118488464;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/1 chrX 118562392 . G A 78 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=230;Dels=0.00;HRun=3;HaplotypeScore=7.30;MQ=95.97;MQ0=0;OQ=8845.08;QD=38.46;RankSumP=1.00000;SB=-4113.16;SecondBestBaseQ=10;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.228C>T;refseq.codingCoordStr_2=c.333C>T;refseq.codingCoordStr_3=c.375C>T;refseq.codonCoord_1=76;refseq.codonCoord_2=111;refseq.codonCoord_3=125;refseq.end_1=118562392;refseq.end_2=118562392;refseq.end_3=118562392;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=536;refseq.mrnaCoord_2=412;refseq.mrnaCoord_3=454;refseq.name2_1=CXorf56;refseq.name2_2=CXorf56;refseq.name2_3=CXorf56;refseq.name_1=NM_001170569;refseq.name_2=NM_001170570;refseq.name_3=NM_022101;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G76G;refseq.proteinCoordStr_2=p.G111G;refseq.proteinCoordStr_3=p.G125G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.referenceCodon_3=GGC;refseq.spliceDist_1=-49;refseq.spliceDist_2=-49;refseq.spliceDist_3=-49;refseq.start_1=118562392;refseq.start_2=118562392;refseq.start_3=118562392;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;set=Intersection GT 1/1 chrX 118583348 . A G 283.27 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=271;Dels=0.00;HRun=1;HaplotypeScore=2.77;MQ=94.42;MQ0=7;OQ=10427.87;QD=38.48;RankSumP=1.00000;SB=-4631.90;SecondBestBaseQ=0;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.-256T>C;refseq.codingCoordStr_2=c.-2T>C;refseq.codingCoordStr_3=c.-2T>C;refseq.end_1=118583348;refseq.end_2=118583348;refseq.end_3=118583348;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.mrnaCoord_1=53;refseq.mrnaCoord_2=78;refseq.mrnaCoord_3=78;refseq.name2_1=CXorf56;refseq.name2_2=CXorf56;refseq.name2_3=CXorf56;refseq.name_1=NM_001170569;refseq.name_2=NM_001170570;refseq.name_3=NM_022101;refseq.numMatchingRecords=3;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.positionType_3=utr5;refseq.spliceDist_1=53;refseq.spliceDist_2=78;refseq.spliceDist_3=78;refseq.start_1=118583348;refseq.start_2=118583348;refseq.start_3=118583348;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;set=Intersection GT 1/1 chrX 118609042 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.419A>C;refseq.codingCoordStr_2=c.374A>C;refseq.codingCoordStr_3=c.374A>C;refseq.codonCoord_1=140;refseq.codonCoord_2=125;refseq.codonCoord_3=125;refseq.end_1=118609042;refseq.end_2=118609042;refseq.end_3=118609042;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=641;refseq.mrnaCoord_2=1027;refseq.mrnaCoord_3=543;refseq.name2_1=NKRF;refseq.name2_2=NKRF;refseq.name2_3=NKRF;refseq.name_1=NM_001173487;refseq.name_2=NM_001173488;refseq.name_3=NM_017544;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.D140A;refseq.proteinCoordStr_2=p.D125A;refseq.proteinCoordStr_3=p.D125A;refseq.referenceAA_1=Asp;refseq.referenceAA_2=Asp;refseq.referenceAA_3=Asp;refseq.referenceCodon_1=GAC;refseq.referenceCodon_2=GAC;refseq.referenceCodon_3=GAC;refseq.spliceDist_1=259;refseq.spliceDist_2=259;refseq.spliceDist_3=259;refseq.start_1=118609042;refseq.start_2=118609042;refseq.start_3=118609042;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;refseq.variantCodon_3=GCC;set=FilteredInAll GT 1/0 chrX 118776836 . C G 36.48 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=24;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=99.00;MQ0=0;QD=4.05;RankSumP=0.555556;SB=-39.41;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.178C>G;refseq.codonCoord=60;refseq.end=118776836;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=233;refseq.name=NM_001105576;refseq.name2=ANKRD58;refseq.positionType=CDS;refseq.proteinCoordStr=p.L60V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=233;refseq.start=118776836;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT 1/0 chrX 118776916 . G C 12.86 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=93.00;MQ0=0;QD=12.86;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.258G>C;refseq.codonCoord=86;refseq.end=118776916;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=313;refseq.name=NM_001105576;refseq.name2=ANKRD58;refseq.positionType=CDS;refseq.proteinCoordStr=p.A86A;refseq.referenceAA=Ala;refseq.referenceCodon=GCG;refseq.spliceDist=313;refseq.start=118776916;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 0/1 chrX 118777082 . C A 96 PASS AC=1;AF=0.50;AN=2;BestBaseQ=27;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=97.45;MQ0=0;OQ=171.62;QD=8.58;RankSumP=0.0555268;SB=-66.74;SecondBestBaseQ=16;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.424C>A;refseq.codonCoord=142;refseq.end=118777082;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=479;refseq.name=NM_001105576;refseq.name2=ANKRD58;refseq.positionType=CDS;refseq.proteinCoordStr=p.R142R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=479;refseq.start=118777082;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGG;set=Intersection GT 1/0 chrX 118777165 . T C 74 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=99.00;MQ0=0;OQ=146.30;QD=11.25;RankSumP=0.417832;SB=-76.32;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.507T>C;refseq.codonCoord=169;refseq.end=118777165;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=562;refseq.name=NM_001105576;refseq.name2=ANKRD58;refseq.positionType=CDS;refseq.proteinCoordStr=p.D169D;refseq.referenceAA=Asp;refseq.referenceCodon=GAT;refseq.spliceDist=562;refseq.start=118777165;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=Intersection GT 1/0 chrX 118777441 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=25;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=99.00;MQ0=0;OQ=379.74;QD=8.08;RankSumP=0.722033;SB=-145.66;SecondBestBaseQ=28;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.783T>C;refseq.codonCoord=261;refseq.end=118777441;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=838;refseq.name=NM_001105576;refseq.name2=ANKRD58;refseq.positionType=CDS;refseq.proteinCoordStr=p.S261S;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=-752;refseq.start=118777441;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGC;set=Intersection GT 1/0 chrX 119271861 . C A 33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=0;RankSumP=0.692666;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.563C>A;refseq.codonCoord=188;refseq.end=119271861;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=791;refseq.name=NM_006777;refseq.name2=ZBTB33;refseq.positionType=CDS;refseq.proteinCoordStr=p.S188Y;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=565;refseq.start=119271861;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=soap GT 1/0 chrX 119460483 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=140;Dels=0.00;HRun=0;HaplotypeScore=16.60;MQ=98.42;MQ0=0;OQ=2167.77;QD=15.48;RankSumP=0.422034;SB=-842.68;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.927C>T;refseq.codingCoordStr_2=c.927C>T;refseq.codingCoordStr_3=c.927C>T;refseq.codonCoord_1=309;refseq.codonCoord_2=309;refseq.codonCoord_3=309;refseq.end_1=119460483;refseq.end_2=119460483;refseq.end_3=119460483;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1107;refseq.mrnaCoord_2=1107;refseq.mrnaCoord_3=1107;refseq.name2_1=LAMP2;refseq.name2_2=LAMP2;refseq.name2_3=LAMP2;refseq.name_1=NM_001122606;refseq.name_2=NM_002294;refseq.name_3=NM_013995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.S309S;refseq.proteinCoordStr_2=p.S309S;refseq.proteinCoordStr_3=p.S309S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_1=TCC;refseq.referenceCodon_2=TCC;refseq.referenceCodon_3=TCC;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceInfo_1=splice-donor_-2;refseq.spliceInfo_2=splice-donor_-2;refseq.spliceInfo_3=splice-donor_-2;refseq.start_1=119460483;refseq.start_2=119460483;refseq.start_3=119460483;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/0 chrX 119474561 . T A 182.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.73;MQ0=0;OQ=2860.37;QD=40.86;RankSumP=1.00000;SB=-732.03;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.156A>T;refseq.codingCoordStr_2=c.156A>T;refseq.codingCoordStr_3=c.156A>T;refseq.codonCoord_1=52;refseq.codonCoord_2=52;refseq.codonCoord_3=52;refseq.end_1=119474561;refseq.end_2=119474561;refseq.end_3=119474561;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=336;refseq.mrnaCoord_2=336;refseq.mrnaCoord_3=336;refseq.name2_1=LAMP2;refseq.name2_2=LAMP2;refseq.name2_3=LAMP2;refseq.name_1=NM_001122606;refseq.name_2=NM_002294;refseq.name_3=NM_013995;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V52V;refseq.proteinCoordStr_2=p.V52V;refseq.proteinCoordStr_3=p.V52V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.spliceDist_1=-28;refseq.spliceDist_2=-28;refseq.spliceDist_3=-28;refseq.start_1=119474561;refseq.start_2=119474561;refseq.start_3=119474561;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chrX 119553769 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2104A>G;refseq.codingCoordStr_2=c.2158A>G;refseq.codonCoord_1=702;refseq.codonCoord_2=720;refseq.end_1=119553769;refseq.end_2=119553769;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2428;refseq.mrnaCoord_2=2595;refseq.name2_1=CUL4B;refseq.name2_2=CUL4B;refseq.name_1=NM_001079872;refseq.name_2=NM_003588;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K702E;refseq.proteinCoordStr_2=p.K720E;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=-57;refseq.spliceDist_2=-57;refseq.start_1=119553769;refseq.start_2=119553769;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantCodon_1=GAA;refseq.variantCodon_2=GAA;set=FilteredInAll GT 1/0 chrX 119644223 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.827T>G;refseq.codingCoordStr_2=c.827T>G;refseq.codonCoord_1=276;refseq.codonCoord_2=276;refseq.end_1=119644223;refseq.end_2=119644223;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1066;refseq.mrnaCoord_2=1238;refseq.name2_1=C1GALT1C1;refseq.name2_2=C1GALT1C1;refseq.name_1=NM_001011551;refseq.name_2=NM_152692;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V276G;refseq.proteinCoordStr_2=p.V276G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-660;refseq.spliceDist_2=-660;refseq.start_1=119644223;refseq.start_2=119644223;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;set=FilteredInAll GT 0/1 chrX 122146067 . A G 1 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=34;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.-2A>G;refseq.codingCoordStr_2=c.-2A>G;refseq.end_1=122146067;refseq.end_2=122146067;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=291;refseq.mrnaCoord_2=291;refseq.name2_1=GRIA3;refseq.name2_2=GRIA3;refseq.name_1=NM_000828;refseq.name_2=NM_007325;refseq.numMatchingRecords=2;refseq.positionType_1=utr5;refseq.positionType_2=utr5;refseq.spliceDist_1=-111;refseq.spliceDist_2=-111;refseq.start_1=122146067;refseq.start_2=122146067;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/1 chrX 122364958 . T C 354.12 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=2712.21;QD=37.15;RankSumP=1.00000;SB=-682.27;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1200T>C;refseq.codingCoordStr_2=c.1200T>C;refseq.codonCoord_1=400;refseq.codonCoord_2=400;refseq.end_1=122364958;refseq.end_2=122364958;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1492;refseq.mrnaCoord_2=1492;refseq.name2_1=GRIA3;refseq.name2_2=GRIA3;refseq.name_1=NM_000828;refseq.name_2=NM_007325;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N400N;refseq.proteinCoordStr_2=p.N400N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=122364958;refseq.start_2=122364958;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 1/1 chrX 123023300 . A T 5 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=25;RankSumP=0.000268957;SecondBestBaseQ=22;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.1535-2;refseq.codingCoordStr_2=c.1535-2;refseq.codingCoordStr_3=c.1535-2;refseq.codingCoordStr_4=c.1535-2;refseq.end_1=123023300;refseq.end_2=123023300;refseq.end_3=123023300;refseq.end_4=123023300;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.name2_1=STAG2;refseq.name2_2=STAG2;refseq.name2_3=STAG2;refseq.name2_4=STAG2;refseq.name_1=NM_001042749;refseq.name_2=NM_001042750;refseq.name_3=NM_001042751;refseq.name_4=NM_006603;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.positionType_3=intron;refseq.positionType_4=intron;refseq.spliceDist_1=-2;refseq.spliceDist_2=-2;refseq.spliceDist_3=-2;refseq.spliceDist_4=-2;refseq.spliceInfo_1=splice-acceptor_-2;refseq.spliceInfo_2=splice-acceptor_-2;refseq.spliceInfo_3=splice-acceptor_-2;refseq.spliceInfo_4=splice-acceptor_-2;refseq.start_1=123023300;refseq.start_2=123023300;refseq.start_3=123023300;refseq.start_4=123023300;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;set=FilteredInAll GT 0/1 chrX 123382327 . T C 241.66 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=98.87;MQ0=0;OQ=4130.95;QD=18.04;RankSumP=0.203107;SB=-1348.60;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.4497A>G;refseq.codingCoordStr_2=c.4494A>G;refseq.codingCoordStr_3=c.4476A>G;refseq.codonCoord_1=1499;refseq.codonCoord_2=1498;refseq.codonCoord_3=1492;refseq.end_1=123382327;refseq.end_2=123382327;refseq.end_3=123382327;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=4561;refseq.mrnaCoord_2=4558;refseq.mrnaCoord_3=4540;refseq.name2_1=ODZ1;refseq.name2_2=ODZ1;refseq.name2_3=ODZ1;refseq.name_1=NM_001163278;refseq.name_2=NM_001163279;refseq.name_3=NM_014253;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A1499A;refseq.proteinCoordStr_2=p.A1498A;refseq.proteinCoordStr_3=p.A1492A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.start_1=123382327;refseq.start_2=123382327;refseq.start_3=123382327;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/0 chrX 123925258 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.26A>C;refseq.codingCoordStr_2=c.26A>C;refseq.codingCoordStr_3=c.26A>C;refseq.codonCoord_1=9;refseq.codonCoord_2=9;refseq.codonCoord_3=9;refseq.end_1=123925258;refseq.end_2=123925258;refseq.end_3=123925258;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=90;refseq.mrnaCoord_2=90;refseq.mrnaCoord_3=90;refseq.name2_1=ODZ1;refseq.name2_2=ODZ1;refseq.name2_3=ODZ1;refseq.name_1=NM_001163278;refseq.name_2=NM_001163279;refseq.name_3=NM_014253;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y9S;refseq.proteinCoordStr_2=p.Y9S;refseq.proteinCoordStr_3=p.Y9S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.referenceCodon_3=TAC;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.spliceDist_3=90;refseq.start_1=123925258;refseq.start_2=123925258;refseq.start_3=123925258;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;refseq.variantCodon_3=TCC;set=FilteredInAll GT 1/0 chrX 127013567 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.300A>C;refseq.codonCoord=100;refseq.end=127013567;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=497;refseq.name=NM_138289;refseq.name2=ACTRT1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K100N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=497;refseq.start=127013567;refseq.transcriptStrand=-;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 1/0 chrX 128708295 . T C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=776;Dels=0.00;HRun=2;HaplotypeScore=17.06;MQ=98.79;MQ0=0;OQ=29659.14;QD=38.22;RankSumP=1.00000;SB=-14309.54;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.447T>C;refseq.codonCoord=149;refseq.end=128708295;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=691;refseq.name=NM_003399;refseq.name2=XPNPEP2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P149P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=-44;refseq.start=128708295;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 1/1 chrX 128974760 . T C 132.46 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.66;MQ0=0;OQ=922.75;QD=36.91;RankSumP=1.00000;SB=-360.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.331T>C;refseq.codonCoord=111;refseq.end=128974760;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=445;refseq.name=NM_021946;refseq.name2=BCORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F111L;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=154;refseq.start=128974760;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTC;set=Intersection GT 1/1 chrX 128977824 . T C 24 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=23;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=93.22;MQ0=0;OQ=54.84;QD=2.38;RankSumP=1.55316e-06;SB=2.04;SecondBestBaseQ=16;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3395T>C;refseq.codonCoord=1132;refseq.end=128977824;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3509;refseq.name=NM_021946;refseq.name2=BCORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L1132P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-47;refseq.start=128977824;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 129017635 . T G 99 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=5.71545e-07;SecondBestBaseQ=19;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4979T>G;refseq.codonCoord=1660;refseq.end=129017635;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5093;refseq.name=NM_021946;refseq.name2=BCORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V1660G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=126;refseq.start=129017635;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 129017638 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=3;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4982C>G;refseq.codonCoord=1661;refseq.end=129017638;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5096;refseq.name=NM_021946;refseq.name2=BCORL1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1661G;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=129;refseq.start=129017638;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 129031283 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=8;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.860T>G;refseq.codingCoordStr_2=c.860T>G;refseq.codonCoord_1=287;refseq.codonCoord_2=287;refseq.end_1=129031283;refseq.end_2=129031283;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1163;refseq.mrnaCoord_2=1245;refseq.name2_1=ELF4;refseq.name2_2=ELF4;refseq.name_1=NM_001127197;refseq.name_2=NM_001421;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V287G;refseq.proteinCoordStr_2=p.V287G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=51;refseq.spliceDist_2=51;refseq.start_1=129031283;refseq.start_2=129031283;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 129097816 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.changesAA_5=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.codingCoordStr_1=c.134C>G;refseq.codingCoordStr_2=c.*418C>G;refseq.codingCoordStr_3=c.1190C>G;refseq.codingCoordStr_4=c.1178C>G;refseq.codingCoordStr_5=c.329C>G;refseq.codonCoord_1=45;refseq.codonCoord_3=397;refseq.codonCoord_4=393;refseq.codonCoord_5=110;refseq.end_1=129097816;refseq.end_2=129097816;refseq.end_3=129097816;refseq.end_4=129097816;refseq.end_5=129097816;refseq.frame_1=1;refseq.frame_3=1;refseq.frame_4=1;refseq.frame_5=1;refseq.functionalClass_1=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.functionalClass_5=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=1078;refseq.mrnaCoord_2=1571;refseq.mrnaCoord_3=1368;refseq.mrnaCoord_4=1356;refseq.mrnaCoord_5=507;refseq.name2_1=AIFM1;refseq.name2_2=AIFM1;refseq.name2_3=AIFM1;refseq.name2_4=AIFM1;refseq.name2_5=AIFM1;refseq.name_1=NM_001130846;refseq.name_2=NM_001130847;refseq.name_3=NM_004208;refseq.name_4=NM_145812;refseq.name_5=NM_145813;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=utr3;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.A45G;refseq.proteinCoordStr_3=p.A397G;refseq.proteinCoordStr_4=p.A393G;refseq.proteinCoordStr_5=p.A110G;refseq.referenceAA_1=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceAA_5=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.referenceCodon_5=GCT;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.spliceDist_5=26;refseq.start_1=129097816;refseq.start_2=129097816;refseq.start_3=129097816;refseq.start_4=129097816;refseq.start_5=129097816;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;set=FilteredInAll GT 0/1 chrX 129363972 . C A 17 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=0;RankSumP=0.101897;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.68C>A;refseq.codonCoord=23;refseq.end=129363972;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=132;refseq.name=NM_016024;refseq.name2=RBMX2;refseq.positionType=CDS;refseq.proteinCoordStr=p.A23D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=-54;refseq.start=129363972;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT 1/0 chrX 129627386 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=1;RankSumP=1.08062e-09;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.926T>G;refseq.codingCoordStr_2=c.1013T>G;refseq.codonCoord_1=309;refseq.codonCoord_2=338;refseq.end_1=129627386;refseq.end_2=129627386;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1342;refseq.mrnaCoord_2=1431;refseq.name2_1=ENOX2;refseq.name2_2=ENOX2;refseq.name_1=NM_006375;refseq.name_2=NM_182314;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V309G;refseq.proteinCoordStr_2=p.V338G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=19;refseq.spliceDist_2=19;refseq.start_1=129627386;refseq.start_2=129627386;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 130047298 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1011A>C;refseq.codonCoord=337;refseq.end=130047298;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1356;refseq.name=NM_144967;refseq.name2=ARHGAP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.P337P;refseq.referenceAA=Pro;refseq.referenceCodon=CCA;refseq.spliceDist=56;refseq.start=130047298;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 130048009 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1307T>G;refseq.codonCoord=436;refseq.end=130048009;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1652;refseq.name=NM_144967;refseq.name2=ARHGAP36;refseq.positionType=CDS;refseq.proteinCoordStr=p.V436G;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=26;refseq.start=130048009;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=FilteredInAll GT 1/0 chrX 130236426 . G A 106.18 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=347;Dels=0.00;HRun=1;HaplotypeScore=12.03;MQ=98.83;MQ0=0;OQ=6480.81;QD=18.68;RankSumP=0.0240037;SB=-2659.49;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.3594C>T;refseq.codingCoordStr_2=c.3552C>T;refseq.codingCoordStr_3=c.3579C>T;refseq.codonCoord_1=1198;refseq.codonCoord_2=1184;refseq.codonCoord_3=1193;refseq.end_1=130236426;refseq.end_2=130236426;refseq.end_3=130236426;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=3877;refseq.mrnaCoord_2=3835;refseq.mrnaCoord_3=3862;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name_1=NM_001170961;refseq.name_2=NM_001170962;refseq.name_3=NM_001555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V1198V;refseq.proteinCoordStr_2=p.V1184V;refseq.proteinCoordStr_3=p.V1193V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=107;refseq.spliceDist_2=107;refseq.spliceDist_3=107;refseq.start_1=130236426;refseq.start_2=130236426;refseq.start_3=130236426;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/0 chrX 130238646 . A G 343.97 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=315;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=98.22;MQ0=0;OQ=5775.36;QD=18.33;RankSumP=0.131775;SB=-1543.68;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.2571T>C;refseq.codingCoordStr_2=c.2529T>C;refseq.codingCoordStr_3=c.2556T>C;refseq.codonCoord_1=857;refseq.codonCoord_2=843;refseq.codonCoord_3=852;refseq.end_1=130238646;refseq.end_2=130238646;refseq.end_3=130238646;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=2854;refseq.mrnaCoord_2=2812;refseq.mrnaCoord_3=2839;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name_1=NM_001170961;refseq.name_2=NM_001170962;refseq.name_3=NM_001555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Y857Y;refseq.proteinCoordStr_2=p.Y843Y;refseq.proteinCoordStr_3=p.Y852Y;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceAA_3=Tyr;refseq.referenceCodon_1=TAT;refseq.referenceCodon_2=TAT;refseq.referenceCodon_3=TAT;refseq.spliceDist_1=-53;refseq.spliceDist_2=-53;refseq.spliceDist_3=-53;refseq.start_1=130238646;refseq.start_2=130238646;refseq.start_3=130238646;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Tyr;refseq.variantAA_2=Tyr;refseq.variantAA_3=Tyr;refseq.variantCodon_1=TAC;refseq.variantCodon_2=TAC;refseq.variantCodon_3=TAC;set=Intersection GT 0/1 chrX 130243499 . T C 339.92 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=99.00;MQ0=0;OQ=4191.34;QD=18.38;RankSumP=0.0574658;SB=-1457.35;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1347A>G;refseq.codingCoordStr_2=c.1320A>G;refseq.codingCoordStr_3=c.1347A>G;refseq.codonCoord_1=449;refseq.codonCoord_2=440;refseq.codonCoord_3=449;refseq.end_1=130243499;refseq.end_2=130243499;refseq.end_3=130243499;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1630;refseq.mrnaCoord_2=1603;refseq.mrnaCoord_3=1630;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name_1=NM_001170961;refseq.name_2=NM_001170962;refseq.name_3=NM_001555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E449E;refseq.proteinCoordStr_2=p.E440E;refseq.proteinCoordStr_3=p.E449E;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=101;refseq.spliceDist_2=101;refseq.spliceDist_3=101;refseq.start_1=130243499;refseq.start_2=130243499;refseq.start_3=130243499;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Glu;refseq.variantAA_2=Glu;refseq.variantAA_3=Glu;refseq.variantCodon_1=GAG;refseq.variantCodon_2=GAG;refseq.variantCodon_3=GAG;set=Intersection GT 1/0 chrX 130244639 . C T 185.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=409;Dels=0.00;HRun=1;HaplotypeScore=5.28;MQ=98.61;MQ0=0;OQ=17016.31;QD=41.60;RankSumP=1.00000;SB=-6650.61;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.948G>A;refseq.codingCoordStr_2=c.921G>A;refseq.codingCoordStr_3=c.948G>A;refseq.codonCoord_1=316;refseq.codonCoord_2=307;refseq.codonCoord_3=316;refseq.end_1=130244639;refseq.end_2=130244639;refseq.end_3=130244639;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1231;refseq.mrnaCoord_2=1204;refseq.mrnaCoord_3=1231;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name_1=NM_001170961;refseq.name_2=NM_001170962;refseq.name_3=NM_001555;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V316V;refseq.proteinCoordStr_2=p.V307V;refseq.proteinCoordStr_3=p.V316V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_1=-5;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceInfo_1=splice-donor_-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.start_1=130244639;refseq.start_2=130244639;refseq.start_3=130244639;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTA;refseq.variantCodon_2=GTA;refseq.variantCodon_3=GTA;set=Intersection GT 1/1 chrX 130247687 . T C 300.56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=1.09;MQ=98.53;MQ0=0;OQ=3797.95;QD=37.98;RankSumP=1.00000;SB=-1246.50;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.codingCoordStr_1=c.114A>G;refseq.codingCoordStr_2=c.87A>G;refseq.codingCoordStr_3=c.114A>G;refseq.codingCoordStr_4=c.114A>G;refseq.codingCoordStr_5=c.114A>G;refseq.codonCoord_1=38;refseq.codonCoord_2=29;refseq.codonCoord_3=38;refseq.codonCoord_4=38;refseq.codonCoord_5=38;refseq.end_1=130247687;refseq.end_2=130247687;refseq.end_3=130247687;refseq.end_4=130247687;refseq.end_5=130247687;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_1=397;refseq.mrnaCoord_2=370;refseq.mrnaCoord_3=221;refseq.mrnaCoord_4=397;refseq.mrnaCoord_5=397;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name2_4=IGSF1;refseq.name2_5=IGSF1;refseq.name_1=NM_001170961;refseq.name_2=NM_001170962;refseq.name_3=NM_001170963;refseq.name_4=NM_001555;refseq.name_5=NM_205833;refseq.numMatchingRecords=5;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_1=p.P38P;refseq.proteinCoordStr_2=p.P29P;refseq.proteinCoordStr_3=p.P38P;refseq.proteinCoordStr_4=p.P38P;refseq.proteinCoordStr_5=p.P38P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.referenceCodon_4=CCA;refseq.referenceCodon_5=CCA;refseq.spliceDist_1=17;refseq.spliceDist_2=17;refseq.spliceDist_3=17;refseq.spliceDist_4=17;refseq.spliceDist_5=17;refseq.start_1=130247687;refseq.start_2=130247687;refseq.start_3=130247687;refseq.start_4=130247687;refseq.start_5=130247687;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;refseq.variantCodon_5=CCG;set=Intersection GT 1/1 chrX 130248096 . T C 305.96 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=300;Dels=0.00;HRun=0;HaplotypeScore=7.41;MQ=98.84;MQ0=0;OQ=11613.78;QD=38.71;RankSumP=1.00000;SB=-5502.21;SecondBestBaseQ=34;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.codingCoordStr_2=c.93A>G;refseq.codingCoordStr_3=c.93A>G;refseq.codingCoordStr_4=c.93A>G;refseq.codingCoordStr_5=c.93A>G;refseq.codonCoord_2=31;refseq.codonCoord_3=31;refseq.codonCoord_4=31;refseq.codonCoord_5=31;refseq.end_1=130248249;refseq.end_2=130248096;refseq.end_3=130248096;refseq.end_4=130248096;refseq.end_5=130248096;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.mrnaCoord_2=376;refseq.mrnaCoord_3=200;refseq.mrnaCoord_4=376;refseq.mrnaCoord_5=376;refseq.name2_1=IGSF1;refseq.name2_2=IGSF1;refseq.name2_3=IGSF1;refseq.name2_4=IGSF1;refseq.name2_5=IGSF1;refseq.name_1=NM_001170962;refseq.name_2=NM_001170961;refseq.name_3=NM_001170963;refseq.name_4=NM_001555;refseq.name_5=NM_205833;refseq.numMatchingRecords=5;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.proteinCoordStr_2=p.S31S;refseq.proteinCoordStr_3=p.S31S;refseq.proteinCoordStr_4=p.S31S;refseq.proteinCoordStr_5=p.S31S;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceAA_5=Ser;refseq.referenceCodon_2=TCA;refseq.referenceCodon_3=TCA;refseq.referenceCodon_4=TCA;refseq.referenceCodon_5=TCA;refseq.spliceDist_2=-5;refseq.spliceDist_3=-5;refseq.spliceDist_4=-5;refseq.spliceDist_5=-5;refseq.spliceInfo_2=splice-donor_-5;refseq.spliceInfo_3=splice-donor_-5;refseq.spliceInfo_4=splice-donor_-5;refseq.spliceInfo_5=splice-donor_-5;refseq.start_1=130247714;refseq.start_2=130248096;refseq.start_3=130248096;refseq.start_4=130248096;refseq.start_5=130248096;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantAA_5=Ser;refseq.variantCodon_2=TCG;refseq.variantCodon_3=TCG;refseq.variantCodon_4=TCG;refseq.variantCodon_5=TCG;set=Intersection GT 1/1 chrX 130506148 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=1243;Dels=0.00;HRun=0;HaplotypeScore=43.51;MQ=98.71;MQ0=0;OQ=49470.38;QD=39.80;RankSumP=1.00000;SB=-21438.36;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.420A>G;refseq.codonCoord=140;refseq.end=130506148;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=420;refseq.name=NM_001004486;refseq.name2=OR13H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V140V;refseq.referenceAA=Val;refseq.referenceCodon=GTA;refseq.spliceDist=420;refseq.start=130506148;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap-filterIngatk GT 1/1 chrX 130506525 . A C 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=202;Dels=0.00;HRun=3;HaplotypeScore=3.34;MQ=98.68;MQ0=0;OQ=8185.25;QD=40.52;RankSumP=1.00000;SB=-3013.41;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.797A>C;refseq.codonCoord=266;refseq.end=130506525;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=797;refseq.name=NM_001004486;refseq.name2=OR13H1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y266S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-131;refseq.start=130506525;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/1 chrX 131040193 . A G 349.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=212;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=98.96;MQ0=0;OQ=4096.61;QD=19.32;RankSumP=0.444314;SB=-1477.40;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1533T>C;refseq.codonCoord=511;refseq.end=131040193;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1711;refseq.name=NM_194277;refseq.name2=FRMD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.I511I;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=483;refseq.start=131040193;refseq.transcriptStrand=-;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 0/1 chrX 131040323 . C T 124.53 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=615;Dels=0.00;HRun=0;HaplotypeScore=8.40;MQ=98.91;MQ0=0;OQ=12947.29;QD=21.05;RankSumP=0.498306;SB=-4719.55;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1403G>A;refseq.codonCoord=468;refseq.end=131040323;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1581;refseq.name=NM_194277;refseq.name2=FRMD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.R468H;refseq.referenceAA=Arg;refseq.referenceCodon=CGT;refseq.spliceDist=353;refseq.start=131040323;refseq.transcriptStrand=-;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 0/1 chrX 131047430 . T C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.505A>G;refseq.codonCoord=169;refseq.end=131047430;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=683;refseq.name=NM_194277;refseq.name2=FRMD7;refseq.positionType=CDS;refseq.proteinCoordStr=p.S169G;refseq.referenceAA=Ser;refseq.referenceCodon=AGC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=131047430;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 131989339 . C T 102.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=255;Dels=0.00;HRun=1;HaplotypeScore=9.25;MQ=98.94;MQ0=0;OQ=5029.74;QD=19.72;RankSumP=0.202107;SB=-1439.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.576G>A;refseq.codonCoord=192;refseq.end=131989339;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=628;refseq.name=NM_031907;refseq.name2=USP26;refseq.positionType=CDS;refseq.proteinCoordStr=p.E192E;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=628;refseq.start=131989339;refseq.transcriptStrand=-;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=Intersection GT 0/1 chrX 131989672 . C A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=3;RankSumP=2.45340e-06;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.243G>T;refseq.codonCoord=81;refseq.end=131989672;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=295;refseq.name=NM_031907;refseq.name2=USP26;refseq.positionType=CDS;refseq.proteinCoordStr=p.L81F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=295;refseq.start=131989672;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chrX 132265003 . G A 331.87 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=98.84;MQ0=0;OQ=6085.17;QD=17.29;RankSumP=0.407029;SB=-1502.99;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1325C>T;refseq.codonCoord=442;refseq.end=132265003;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1537;refseq.name=NM_001448;refseq.name2=GPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A442V;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=33;refseq.start=132265003;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chrX 132266538 . C A 310.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=335;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=98.81;MQ0=0;OQ=6163.31;QD=18.40;RankSumP=0.490843;SB=-881.91;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1173G>T;refseq.codonCoord=391;refseq.end=132266538;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1385;refseq.name=NM_001448;refseq.name2=GPC4;refseq.positionType=CDS;refseq.proteinCoordStr=p.E391D;refseq.referenceAA=Glu;refseq.referenceCodon=GAG;refseq.spliceDist=18;refseq.start=132266538;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=Intersection GT 1/0 chrX 134013663 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=365;Dels=0.00;HRun=0;HaplotypeScore=9.55;MQ=47.19;MQ0=129;OQ=4013.46;QD=11.00;RankSumP=0.227786;SB=-1507.48;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.142A>T;refseq.codingCoordStr_2=c.142A>T;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=134013663;refseq.end_2=134013663;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=225;refseq.mrnaCoord_2=225;refseq.name2_1=FAM127B;refseq.name2_2=FAM127B;refseq.name_1=NM_001078172;refseq.name_2=NM_001134321;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S48C;refseq.proteinCoordStr_2=p.S48C;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.spliceDist_1=225;refseq.spliceDist_2=-51;refseq.start_1=134013663;refseq.start_2=134013663;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Cys;refseq.variantAA_2=Cys;refseq.variantCodon_1=TGC;refseq.variantCodon_2=TGC;set=Intersection GT 1/0 chrX 134248834 . C T 329.76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=415;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=98.88;MQ0=0;OQ=7527.34;QD=18.14;RankSumP=0.439367;SB=-2828.35;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1434G>A;refseq.codonCoord=478;refseq.end=134248834;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=4089;refseq.name=NM_007131;refseq.name2=ZNF75D;refseq.positionType=CDS;refseq.proteinCoordStr=p.T478T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=611;refseq.start=134248834;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 0/1 chrX 134322178 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=1862.86;QD=14.78;RankSumP=0.0902078;SB=-570.88;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1068T>C;refseq.codonCoord=356;refseq.end=134322178;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1233;refseq.name=NM_152695;refseq.name2=ZNF449;refseq.positionType=CDS;refseq.proteinCoordStr=p.C356C;refseq.referenceAA=Cys;refseq.referenceCodon=TGT;refseq.spliceDist=395;refseq.start=134322178;refseq.transcriptStrand=+;refseq.variantAA=Cys;refseq.variantCodon=TGC;set=Intersection GT 1/0 chrX 134508402 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.539C>T;refseq.codonCoord=180;refseq.end=134508402;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=902;refseq.name=NM_182540;refseq.name2=DDX26B;refseq.positionType=CDS;refseq.proteinCoordStr=p.S180F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-75;refseq.start=134508402;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chrX 134775700 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=1466;Dels=0.00;HRun=0;HaplotypeScore=13.88;MQ=66.49;MQ0=218;OQ=8520.35;QD=5.81;RankSumP=0.0501491;SB=-2429.21;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.291T>C;refseq.codingCoordStr_2=c.291T>C;refseq.codonCoord_1=97;refseq.codonCoord_2=97;refseq.end_1=134775700;refseq.end_2=134775700;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=536;refseq.mrnaCoord_2=553;refseq.name2_1=CT45A5;refseq.name2_2=CT45A5;refseq.name_1=NM_001007551;refseq.name_2=NM_001172288;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N97N;refseq.proteinCoordStr_2=p.N97N;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAT;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=122;refseq.spliceDist_2=122;refseq.start_1=134775700;refseq.start_2=134775700;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Asn;refseq.variantAA_2=Asn;refseq.variantCodon_1=AAC;refseq.variantCodon_2=AAC;set=Intersection GT 0/1 chrX 134806091 . G A 106.15 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=197;Dels=0.00;HRun=1;HaplotypeScore=9.33;MQ=94.21;MQ0=0;OQ=3155.88;QD=16.02;RankSumP=0.229501;SB=-1602.70;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.24G>A;refseq.codonCoord=8;refseq.end=134806091;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=191;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T8T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=24;refseq.start=134806091;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chrX 134814322 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=347;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=94.05;MQ0=3;OQ=6077.84;QD=17.52;RankSumP=0.420853;SB=-2162.56;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.241A>G;refseq.codonCoord=81;refseq.end=134814322;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=408;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.I81V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=21;refseq.start=134814322;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 0/1 chrX 134814366 . T C 289.80 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=96.74;MQ0=0;OQ=4514.60;QD=16.42;RankSumP=0.275168;SB=-1098.66;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.285T>C;refseq.codonCoord=95;refseq.end=134814366;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=452;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N95N;refseq.referenceAA=Asn;refseq.referenceCodon=AAT;refseq.spliceDist=-29;refseq.start=134814366;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chrX 134818408 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1407A>G;refseq.codonCoord=469;refseq.end=134818408;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1574;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G469G;refseq.referenceAA=Gly;refseq.referenceCodon=GGA;refseq.spliceDist=-35;refseq.start=134818408;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 134818744 . A G 146.16 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=537;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=98.81;MQ0=0;OQ=10628.25;QD=19.79;RankSumP=0.0744433;SB=-4303.21;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1497A>G;refseq.codonCoord=499;refseq.end=134818744;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1664;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q499Q;refseq.referenceAA=Gln;refseq.referenceCodon=CAA;refseq.spliceDist=56;refseq.start=134818744;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 0/1 chrX 134821671 . T C 147.40 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=131;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=98.40;MQ0=0;OQ=1802.50;QD=13.76;RankSumP=0.394164;SB=-781.54;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2414T>C;refseq.codonCoord=805;refseq.end=134821671;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2581;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L805S;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-108;refseq.start=134821671;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=Intersection GT 1/0 chrX 134821720 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=98;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=97.68;MQ0=0;OQ=1227.32;QD=12.52;RankSumP=0.453707;SB=-567.90;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2463G>A;refseq.codonCoord=821;refseq.end=134821720;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2630;refseq.name=NM_018666;refseq.name2=SAGE1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K821K;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-59;refseq.start=134821720;refseq.transcriptStrand=+;refseq.variantAA=Lys;refseq.variantCodon=AAA;set=Intersection GT 1/0 chrX 134895341 . G C 14.78 BadSOAPSNP;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=34;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=14.78;RankSumP=0.00000;SB=-10.00;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.14G>C;refseq.codingCoordStr_2=c.14G>C;refseq.codonCoord_1=5;refseq.codonCoord_2=5;refseq.end_1=134895341;refseq.end_2=134895341;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=90;refseq.mrnaCoord_2=90;refseq.name2_1=SLC9A6;refseq.name2_2=SLC9A6;refseq.name_1=NM_001042537;refseq.name_2=NM_006359;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G5A;refseq.proteinCoordStr_2=p.G5A;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGC;refseq.referenceCodon_2=GGC;refseq.spliceDist_1=90;refseq.spliceDist_2=90;refseq.start_1=134895341;refseq.start_2=134895341;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCC;refseq.variantCodon_2=GCC;set=FilteredInAll GT 0/1 chrX 135138451 . T C 449.22 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=98.17;MQ0=0;OQ=4459.80;QD=38.45;RankSumP=1.00000;SB=-1945.92;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1829A>G;refseq.codingCoordStr_2=c.1778A>G;refseq.codingCoordStr_3=c.1883A>G;refseq.codonCoord_1=610;refseq.codonCoord_2=593;refseq.codonCoord_3=628;refseq.end_1=135138451;refseq.end_2=135138451;refseq.end_3=135138451;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1992;refseq.mrnaCoord_2=1999;refseq.mrnaCoord_3=2104;refseq.name2_1=MAP7D3;refseq.name2_2=MAP7D3;refseq.name2_3=MAP7D3;refseq.name_1=NM_001173516;refseq.name_2=NM_001173517;refseq.name_3=NM_024597;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.Q610R;refseq.proteinCoordStr_2=p.Q593R;refseq.proteinCoordStr_3=p.Q628R;refseq.referenceAA_1=Gln;refseq.referenceAA_2=Gln;refseq.referenceAA_3=Gln;refseq.referenceCodon_1=CAA;refseq.referenceCodon_2=CAA;refseq.referenceCodon_3=CAA;refseq.spliceDist_1=-4;refseq.spliceDist_2=-4;refseq.spliceDist_3=-4;refseq.spliceInfo_1=splice-donor_-4;refseq.spliceInfo_2=splice-donor_-4;refseq.spliceInfo_3=splice-donor_-4;refseq.start_1=135138451;refseq.start_2=135138451;refseq.start_3=135138451;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantCodon_1=CGA;refseq.variantCodon_2=CGA;refseq.variantCodon_3=CGA;set=Intersection GT 1/1 chrX 135140700 . T G 88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=591;Dels=0.00;HRun=0;HaplotypeScore=10.48;MQ=98.94;MQ0=0;OQ=24699.06;QD=41.79;RankSumP=1.00000;SB=-11379.66;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1451A>C;refseq.codingCoordStr_2=c.1400A>C;refseq.codingCoordStr_3=c.1505A>C;refseq.codonCoord_1=484;refseq.codonCoord_2=467;refseq.codonCoord_3=502;refseq.end_1=135140700;refseq.end_2=135140700;refseq.end_3=135140700;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1614;refseq.mrnaCoord_2=1621;refseq.mrnaCoord_3=1726;refseq.name2_1=MAP7D3;refseq.name2_2=MAP7D3;refseq.name2_3=MAP7D3;refseq.name_1=NM_001173516;refseq.name_2=NM_001173517;refseq.name_3=NM_024597;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.E484A;refseq.proteinCoordStr_2=p.E467A;refseq.proteinCoordStr_3=p.E502A;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceAA_3=Glu;refseq.referenceCodon_1=GAA;refseq.referenceCodon_2=GAA;refseq.referenceCodon_3=GAA;refseq.spliceDist_1=-37;refseq.spliceDist_2=-37;refseq.spliceDist_3=-37;refseq.start_1=135140700;refseq.start_2=135140700;refseq.start_3=135140700;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;refseq.variantCodon_3=GCA;set=Intersection GT 1/1 chrX 135254359 . A G 107.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=460;Dels=0.00;HRun=0;HaplotypeScore=21.06;MQ=98.67;MQ0=0;OQ=10123.74;QD=22.01;RankSumP=0.255810;SB=-3804.06;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.828A>G;refseq.codonCoord=276;refseq.end=135254359;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1119;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.I276M;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=143;refseq.start=135254359;refseq.transcriptStrand=+;refseq.variantAA=Met;refseq.variantCodon=ATG;set=Intersection GT 0/1 chrX 135254634 . C A 298.64 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=7.80;MQ=98.72;MQ0=0;OQ=3125.48;QD=15.71;RankSumP=0.125244;SB=-1345.12;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1103C>A;refseq.codonCoord=368;refseq.end=135254634;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1394;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.P368H;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=418;refseq.start=135254634;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAT;set=Intersection GT 1/0 chrX 135257169 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=914;Dels=0.00;HRun=1;HaplotypeScore=27.17;MQ=98.92;MQ0=0;OQ=15749.07;QD=17.23;RankSumP=0.0127056;SB=-5573.82;SecondBestBaseQ=27;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3638C>A;refseq.codonCoord=1213;refseq.end=135257169;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=3929;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1213N;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=2953;refseq.start=135257169;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=Intersection GT 1/0 chrX 135257710 . T C 245.30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=173;Dels=0.00;HRun=1;HaplotypeScore=5.98;MQ=98.70;MQ0=0;OQ=2808.72;QD=16.24;RankSumP=0.444362;SB=-1245.48;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.4179T>C;refseq.codonCoord=1393;refseq.end=135257710;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4470;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1393T;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=-2549;refseq.start=135257710;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=Intersection GT 1/0 chrX 135258149 . T C 138.44 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=528;Dels=0.00;HRun=1;HaplotypeScore=10.49;MQ=98.83;MQ0=0;OQ=10110.67;QD=19.15;RankSumP=0.288572;SB=-2610.32;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4618T>C;refseq.codonCoord=1540;refseq.end=135258149;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=4909;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.S1540P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-2110;refseq.start=135258149;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 1/0 chrX 135258530 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=3;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4999A>G;refseq.codonCoord=1667;refseq.end=135258530;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=5290;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.I1667V;refseq.referenceAA=Ile;refseq.referenceCodon=ATA;refseq.spliceDist=-1729;refseq.start=135258530;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTA;set=FilteredInAll GT 0/1 chrX 135258902 . T C 220.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=158;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=98.83;MQ0=0;OQ=2968.16;QD=18.79;RankSumP=2.58667e-07;SB=-1307.59;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.5371T>C;refseq.codonCoord=1791;refseq.end=135258902;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=5662;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.F1791L;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-1357;refseq.start=135258902;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=filterInsoap-gatk GT 1/0 chrX 135259024 . C T 156.02 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=371;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=98.89;MQ0=0;OQ=7329.57;QD=19.76;RankSumP=0.341076;SB=-2757.51;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.5493C>T;refseq.codonCoord=1831;refseq.end=135259024;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=5784;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.P1831P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=-1235;refseq.start=135259024;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=Intersection GT 0/1 chrX 135302086 . C A 332.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=96.39;MQ0=0;OQ=4090.04;QD=17.11;RankSumP=0.477743;SB=-1238.31;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.7941C>A;refseq.codonCoord=2647;refseq.end=135302086;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=8232;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.T2647T;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=30;refseq.start=135302086;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chrX 135307792 . T C 108.55 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=339;Dels=0.00;HRun=1;HaplotypeScore=4.03;MQ=98.86;MQ0=0;OQ=7509.53;QD=22.15;RankSumP=0.229197;SB=-3074.43;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.8271T>C;refseq.codonCoord=2757;refseq.end=135307792;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=8562;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.F2757F;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=-36;refseq.start=135307792;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 1/0 chrX 135324064 . G A 315.48 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=98.98;MQ0=0;OQ=5175.84;QD=20.70;RankSumP=0.0758835;SB=-1265.67;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.9117G>A;refseq.codonCoord=3039;refseq.end=135324064;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=9408;refseq.name=NM_153834;refseq.name2=GPR112;refseq.positionType=CDS;refseq.proteinCoordStr=p.T3039T;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=80;refseq.start=135324064;refseq.transcriptStrand=+;refseq.variantAA=Thr;refseq.variantCodon=ACA;set=Intersection GT 1/0 chrX 135409467 . C T 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=25;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.231C>T;refseq.codingCoordStr_2=c.231C>T;refseq.codonCoord_1=77;refseq.codonCoord_2=77;refseq.end_1=135409467;refseq.end_2=135409467;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=653;refseq.mrnaCoord_2=404;refseq.name2_1=HTATSF1;refseq.name2_2=HTATSF1;refseq.name_1=NM_001163280;refseq.name_2=NM_014500;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F77F;refseq.proteinCoordStr_2=p.F77F;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTC;refseq.referenceCodon_2=TTC;refseq.spliceDist_1=45;refseq.spliceDist_2=45;refseq.start_1=135409467;refseq.start_2=135409467;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 0/1 chrX 135558221 . T C 279.26 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=98.54;MQ0=0;OQ=7028.84;QD=23.05;RankSumP=0.300484;SB=-2629.91;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.148T>C;refseq.codonCoord=50;refseq.end=135558221;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=220;refseq.name=NM_000074;refseq.name2=CD40LG;refseq.positionType=CDS;refseq.proteinCoordStr=p.L50L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=-9;refseq.spliceInfo=splice-donor_-9;refseq.start=135558221;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=Intersection GT 1/0 chrX 135784008 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DP=478;Dels=0.00;HRun=0;HaplotypeScore=54.47;MQ=32.63;MQ0=144;OQ=657.69;QD=1.38;RankSumP=0.746053;SB=-104.84;SecondBestBaseQ=28;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1135G>C;refseq.codonCoord_4=379;refseq.end_1=135784900;refseq.end_2=135784008;refseq.end_3=135784008;refseq.end_4=135784008;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1173;refseq.mrnaCoord_3=1380;refseq.mrnaCoord_4=1345;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G379R;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGA;refseq.spliceDist_2=270;refseq.spliceDist_3=270;refseq.spliceDist_4=270;refseq.start_1=135782181;refseq.start_2=135784008;refseq.start_3=135784008;refseq.start_4=135784008;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGA;set=soap-filterIngatk GT 1/0 chrX 135784014 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=0;RankSumP=0.111233;SecondBestBaseQ=33;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1129C>T;refseq.codonCoord_4=377;refseq.end_1=135784900;refseq.end_2=135784014;refseq.end_3=135784014;refseq.end_4=135784014;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1167;refseq.mrnaCoord_3=1374;refseq.mrnaCoord_4=1339;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R377C;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGT;refseq.spliceDist_2=264;refseq.spliceDist_3=264;refseq.spliceDist_4=264;refseq.start_1=135782181;refseq.start_2=135784014;refseq.start_3=135784014;refseq.start_4=135784014;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Cys;refseq.variantCodon_4=TGT;set=FilteredInAll GT 1/0 chrX 135784036 . G A 60 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=501;Dels=0.00;HRun=0;HaplotypeScore=48.12;MQ=38.66;MQ0=119;OQ=562.12;QD=1.12;RankSumP=0.505697;SB=90.07;SecondBestBaseQ=21;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1107C>T;refseq.codonCoord_4=369;refseq.end_1=135784900;refseq.end_2=135784036;refseq.end_3=135784036;refseq.end_4=135784036;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1145;refseq.mrnaCoord_3=1352;refseq.mrnaCoord_4=1317;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R369R;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGC;refseq.spliceDist_2=242;refseq.spliceDist_3=242;refseq.spliceDist_4=242;refseq.start_1=135782181;refseq.start_2=135784036;refseq.start_3=135784036;refseq.start_4=135784036;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Arg;refseq.variantCodon_4=CGT;set=soap-filterIngatk GT 1/0 chrX 135784057 . A G 59 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=30.96;MQ=40.36;MQ0=135;OQ=944.59;QD=1.96;RankSumP=0.506907;SB=-42.77;SecondBestBaseQ=22;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1086T>C;refseq.codonCoord_4=362;refseq.end_1=135784900;refseq.end_2=135784057;refseq.end_3=135784057;refseq.end_4=135784057;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1124;refseq.mrnaCoord_3=1331;refseq.mrnaCoord_4=1296;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.D362D;refseq.referenceAA_4=Asp;refseq.referenceCodon_4=GAT;refseq.spliceDist_2=221;refseq.spliceDist_3=221;refseq.spliceDist_4=221;refseq.start_1=135782181;refseq.start_2=135784057;refseq.start_3=135784057;refseq.start_4=135784057;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Asp;refseq.variantCodon_4=GAC;set=soap-filterIngatk GT 0/1 chrX 135784074 . A G 30 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=529;Dels=0.00;HRun=0;HaplotypeScore=35.75;MQ=46.23;MQ0=114;OQ=2317.80;QD=4.38;RankSumP=0.147497;SB=-441.83;SecondBestBaseQ=25;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1069T>C;refseq.codonCoord_4=357;refseq.end_1=135784900;refseq.end_2=135784074;refseq.end_3=135784074;refseq.end_4=135784074;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1107;refseq.mrnaCoord_3=1314;refseq.mrnaCoord_4=1279;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.Y357H;refseq.referenceAA_4=Tyr;refseq.referenceCodon_4=TAC;refseq.spliceDist_2=204;refseq.spliceDist_3=204;refseq.spliceDist_4=204;refseq.start_1=135782181;refseq.start_2=135784074;refseq.start_3=135784074;refseq.start_4=135784074;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=His;refseq.variantCodon_4=CAC;set=soap-filterIngatk GT 0/1 chrX 135784128 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=933;Dels=0.00;HRun=1;HaplotypeScore=43.15;MQ=44.44;MQ0=380;OQ=8269.05;QD=8.86;RankSumP=0.0353851;SB=-3354.39;SecondBestBaseQ=31;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1015C>G;refseq.codonCoord_4=339;refseq.end_1=135784900;refseq.end_2=135784128;refseq.end_3=135784128;refseq.end_4=135784128;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1053;refseq.mrnaCoord_3=1260;refseq.mrnaCoord_4=1225;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R339G;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGT;refseq.spliceDist_2=150;refseq.spliceDist_3=150;refseq.spliceDist_4=150;refseq.start_1=135782181;refseq.start_2=135784128;refseq.start_3=135784128;refseq.start_4=135784128;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGT;set=soap-filterIngatk GT 0/1 chrX 135784133 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=945;Dels=0.00;HRun=2;HaplotypeScore=35.39;MQ=44.00;MQ0=384;OQ=7283.47;QD=7.71;RankSumP=0.341329;SB=-2871.69;SecondBestBaseQ=32;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.1010G>A;refseq.codonCoord_4=337;refseq.end_1=135784900;refseq.end_2=135784133;refseq.end_3=135784133;refseq.end_4=135784133;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1048;refseq.mrnaCoord_3=1255;refseq.mrnaCoord_4=1220;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.S337N;refseq.referenceAA_4=Ser;refseq.referenceCodon_4=AGT;refseq.spliceDist_2=145;refseq.spliceDist_3=145;refseq.spliceDist_4=145;refseq.start_1=135782181;refseq.start_2=135784133;refseq.start_3=135784133;refseq.start_4=135784133;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Asn;refseq.variantCodon_4=AAT;set=soap-filterIngatk GT 0/1 chrX 135784172 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=865;Dels=0.00;HRun=1;HaplotypeScore=35.14;MQ=43.13;MQ0=370;OQ=5887.00;QD=6.81;RankSumP=0.0509618;SB=-1583.31;SecondBestBaseQ=32;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.971G>C;refseq.codonCoord_4=324;refseq.end_1=135784900;refseq.end_2=135784172;refseq.end_3=135784172;refseq.end_4=135784172;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=1009;refseq.mrnaCoord_3=1216;refseq.mrnaCoord_4=1181;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.R324P;refseq.referenceAA_4=Arg;refseq.referenceCodon_4=CGA;refseq.spliceDist_2=106;refseq.spliceDist_3=106;refseq.spliceDist_4=106;refseq.start_1=135782181;refseq.start_2=135784172;refseq.start_3=135784172;refseq.start_4=135784172;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Pro;refseq.variantCodon_4=CCA;set=soap-filterIngatk GT 1/0 chrX 135784241 . G A 0.03 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=323;Dels=0.00;HRun=0;HaplotypeScore=16.10;MQ=77.10;MQ0=14;OQ=289.48;QD=0.90;SB=194.07;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.902C>T;refseq.codonCoord_4=301;refseq.end_1=135784900;refseq.end_2=135784241;refseq.end_3=135784241;refseq.end_4=135784241;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=940;refseq.mrnaCoord_3=1147;refseq.mrnaCoord_4=1112;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P301L;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCG;refseq.spliceDist_2=37;refseq.spliceDist_3=37;refseq.spliceDist_4=37;refseq.start_1=135782181;refseq.start_2=135784241;refseq.start_3=135784241;refseq.start_4=135784241;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Leu;refseq.variantCodon_4=CTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:293,30:293:-120.47,-88.23,-1055.58:99 chrX 135786362 . T C 19.31 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=2;HaplotypeScore=1.42;MQ=92.40;MQ0=1;QD=0.08;SB=70.37;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.507A>G;refseq.codonCoord_4=169;refseq.end_1=135788831;refseq.end_2=135786362;refseq.end_3=135786362;refseq.end_4=135786362;refseq.frame_4=2;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=545;refseq.mrnaCoord_3=752;refseq.mrnaCoord_4=717;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G169G;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGA;refseq.spliceDist_2=-35;refseq.spliceDist_3=-35;refseq.spliceDist_4=-35;refseq.start_1=135785421;refseq.start_2=135786362;refseq.start_3=135786362;refseq.start_4=135786362;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Gly;refseq.variantCodon_4=GGG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:206,26:219:-71.16,-65.95,-859.76:52.10 chrX 135786370 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=229;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=90.08;MQ0=2;OQ=312.41;QD=1.36;SB=-117.09;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.499C>G;refseq.codonCoord_4=167;refseq.end_1=135788831;refseq.end_2=135786370;refseq.end_3=135786370;refseq.end_4=135786370;refseq.frame_4=0;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=537;refseq.mrnaCoord_3=744;refseq.mrnaCoord_4=709;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.P167A;refseq.referenceAA_4=Pro;refseq.referenceCodon_4=CCT;refseq.spliceDist_2=-43;refseq.spliceDist_3=-43;refseq.spliceDist_4=-43;refseq.start_1=135785421;refseq.start_2=135786370;refseq.start_3=135786370;refseq.start_4=135786370;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Ala;refseq.variantCodon_4=GCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:202,27:217:-99.87,-65.34,-960.21:99 chrX 135786396 . C A 0.02 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=197;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=81.01;MQ0=12;OQ=402.92;QD=2.05;SB=-181.41;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_4=c.473G>T;refseq.codonCoord_4=158;refseq.end_1=135788831;refseq.end_2=135786396;refseq.end_3=135786396;refseq.end_4=135786396;refseq.frame_4=1;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=*;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=*;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=false;refseq.inCodingRegion_4=true;refseq.mrnaCoord_2=511;refseq.mrnaCoord_3=718;refseq.mrnaCoord_4=683;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NM_001164803;refseq.name_2=NR_028476;refseq.name_3=NR_028477;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=intron;refseq.positionType_2=non_coding_exon;refseq.positionType_3=non_coding_exon;refseq.positionType_4=CDS;refseq.proteinCoordStr_4=p.G158V;refseq.referenceAA_4=Gly;refseq.referenceCodon_4=GGG;refseq.spliceDist_2=-69;refseq.spliceDist_3=-69;refseq.spliceDist_4=-69;refseq.start_1=135785421;refseq.start_2=135786396;refseq.start_3=135786396;refseq.start_4=135786396;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_4=Val;refseq.variantCodon_4=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:162,35:170:-94.76,-51.19,-587.77:99 chrX 135789226 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=481;Dels=0.00;HRun=1;HaplotypeScore=37.41;MQ=78.33;MQ0=53;OQ=1063.68;QD=2.21;SB=-496.01;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_3=c.27G>C;refseq.codingCoordStr_4=c.27G>C;refseq.codonCoord_3=9;refseq.codonCoord_4=9;refseq.end_1=135789226;refseq.end_2=135789226;refseq.end_3=135789226;refseq.end_4=135789226;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=237;refseq.mrnaCoord_2=237;refseq.mrnaCoord_3=237;refseq.mrnaCoord_4=237;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NR_028476;refseq.name_2=NR_028477;refseq.name_3=NM_001164803;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_3=p.K9N;refseq.proteinCoordStr_4=p.K9N;refseq.referenceAA_3=Lys;refseq.referenceAA_4=Lys;refseq.referenceCodon_3=AAG;refseq.referenceCodon_4=AAG;refseq.spliceDist_1=53;refseq.spliceDist_2=53;refseq.spliceDist_3=53;refseq.spliceDist_4=53;refseq.start_1=135789226;refseq.start_2=135789226;refseq.start_3=135789226;refseq.start_4=135789226;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_3=Asn;refseq.variantAA_4=Asn;refseq.variantCodon_3=AAC;refseq.variantCodon_4=AAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:400,80:370:-220.79,-111.14,-1589.36:99 chrX 135789253 . G T 75 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;HRun=13;RankSumP=1.00000;SecondBestBaseQ=2;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_3=c.-1C>A;refseq.codingCoordStr_4=c.-1C>A;refseq.end_1=135789253;refseq.end_2=135789253;refseq.end_3=135789253;refseq.end_4=135789253;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=*;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=*;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_3=false;refseq.inCodingRegion_4=false;refseq.mrnaCoord_1=210;refseq.mrnaCoord_2=210;refseq.mrnaCoord_3=210;refseq.mrnaCoord_4=210;refseq.name2_1=RBMX;refseq.name2_2=RBMX;refseq.name2_3=RBMX;refseq.name2_4=RBMX;refseq.name_1=NR_028476;refseq.name_2=NR_028477;refseq.name_3=NM_001164803;refseq.name_4=NM_002139;refseq.numMatchingRecords=4;refseq.positionType_1=non_coding_exon;refseq.positionType_2=non_coding_exon;refseq.positionType_3=utr5;refseq.positionType_4=utr5;refseq.spliceDist_1=26;refseq.spliceDist_2=26;refseq.spliceDist_3=26;refseq.spliceDist_4=26;refseq.start_1=135789253;refseq.start_2=135789253;refseq.start_3=135789253;refseq.start_4=135789253;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;set=soap GT 1/1 chrX 135941130 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=99.00;MQ0=0;OQ=458.34;QD=14.79;RankSumP=0.342008;SB=-176.83;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.370G>T;refseq.codonCoord=124;refseq.end=135941130;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=370;refseq.name=NM_054021;refseq.name2=GPR101;refseq.positionType=CDS;refseq.proteinCoordStr=p.V124L;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=370;refseq.start=135941130;refseq.transcriptStrand=-;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 1/0 chrX 135941201 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=1;RankSumP=0.000125118;SecondBestBaseQ=8;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.299A>C;refseq.codonCoord=100;refseq.end=135941201;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=299;refseq.name=NM_054021;refseq.name2=GPR101;refseq.positionType=CDS;refseq.proteinCoordStr=p.N100T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=299;refseq.start=135941201;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chrX 136479845 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1354A>C;refseq.codonCoord=452;refseq.end=136479845;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1859;refseq.name=NM_003413;refseq.name2=ZIC3;refseq.positionType=CDS;refseq.proteinCoordStr=p.T452P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=130;refseq.start=136479845;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 138507378 . T A 104.50 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.16;MQ0=0;OQ=1567.34;QD=14.79;RankSumP=0.276823;SB=-645.41;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.codingCoordStr_1=c.2142A>T;refseq.codingCoordStr_2=c.2190A>T;refseq.codingCoordStr_3=c.1845A>T;refseq.codingCoordStr_4=c.1962A>T;refseq.codingCoordStr_5=c.2010A>T;refseq.codingCoordStr_6=c.1962A>T;refseq.codonCoord_1=714;refseq.codonCoord_2=730;refseq.codonCoord_3=615;refseq.codonCoord_4=654;refseq.codonCoord_5=670;refseq.codonCoord_6=654;refseq.end_1=138507378;refseq.end_2=138507378;refseq.end_3=138507378;refseq.end_4=138507378;refseq.end_5=138507378;refseq.end_6=138507378;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.mrnaCoord_1=2303;refseq.mrnaCoord_2=2351;refseq.mrnaCoord_3=2168;refseq.mrnaCoord_4=2285;refseq.mrnaCoord_5=2333;refseq.mrnaCoord_6=2285;refseq.name2_1=MCF2;refseq.name2_2=MCF2;refseq.name2_3=MCF2;refseq.name2_4=MCF2;refseq.name2_5=MCF2;refseq.name2_6=MCF2;refseq.name_1=NM_001099855;refseq.name_2=NM_001171876;refseq.name_3=NM_001171877;refseq.name_4=NM_001171878;refseq.name_5=NM_001171879;refseq.name_6=NM_005369;refseq.numMatchingRecords=6;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.proteinCoordStr_1=p.G714G;refseq.proteinCoordStr_2=p.G730G;refseq.proteinCoordStr_3=p.G615G;refseq.proteinCoordStr_4=p.G654G;refseq.proteinCoordStr_5=p.G670G;refseq.proteinCoordStr_6=p.G654G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceAA_4=Gly;refseq.referenceAA_5=Gly;refseq.referenceAA_6=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.referenceCodon_4=GGA;refseq.referenceCodon_5=GGA;refseq.referenceCodon_6=GGA;refseq.spliceDist_1=33;refseq.spliceDist_2=33;refseq.spliceDist_3=33;refseq.spliceDist_4=33;refseq.spliceDist_5=33;refseq.spliceDist_6=33;refseq.start_1=138507378;refseq.start_2=138507378;refseq.start_3=138507378;refseq.start_4=138507378;refseq.start_5=138507378;refseq.start_6=138507378;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.transcriptStrand_5=-;refseq.transcriptStrand_6=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantAA_5=Gly;refseq.variantAA_6=Gly;refseq.variantCodon_1=GGT;refseq.variantCodon_2=GGT;refseq.variantCodon_3=GGT;refseq.variantCodon_4=GGT;refseq.variantCodon_5=GGT;refseq.variantCodon_6=GGT;set=Intersection GT 1/0 chrX 138724796 . A C 309.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=98.57;MQ0=0;OQ=4494.31;QD=41.61;RankSumP=1.00000;SB=-1759.85;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.342T>G;refseq.codingCoordStr_2=c.342T>G;refseq.codonCoord_1=114;refseq.codonCoord_2=114;refseq.end_1=138724796;refseq.end_2=138724796;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=441;refseq.mrnaCoord_2=441;refseq.name2_1=ATP11C;refseq.name2_2=ATP11C;refseq.name_1=NM_001010986;refseq.name_2=NM_173694;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.C114W;refseq.proteinCoordStr_2=p.C114W;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceCodon_1=TGT;refseq.referenceCodon_2=TGT;refseq.spliceDist_1=15;refseq.spliceDist_2=15;refseq.start_1=138724796;refseq.start_2=138724796;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Trp;refseq.variantAA_2=Trp;refseq.variantCodon_1=TGG;refseq.variantCodon_2=TGG;set=Intersection GT 1/1 chrX 140163408 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=1;RankSumP=0.0767849;SecondBestBaseQ=34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.202C>G;refseq.codonCoord=68;refseq.end=140163408;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=258;refseq.name=NM_022661;refseq.name2=SPANXC;refseq.positionType=CDS;refseq.proteinCoordStr=p.L68V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=130;refseq.start=140163408;refseq.transcriptStrand=-;refseq.variantAA=Val;refseq.variantCodon=GTG;set=soap GT 0/1 chrX 140499618 rs60435127 G C 0.69 PASS AC=2;AF=1.00;AN=2;DB;DP=1015;Dels=0.00;HRun=1;HaplotypeScore=17.17;MQ=1.23;MQ0=1013;OQ=63.31;QD=0.06;SB=-58.47;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.202C>G;refseq.codingCoordStr_2=c.202C>G;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=140499618;refseq.end_2=140499618;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=238;refseq.mrnaCoord_2=262;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L68V;refseq.proteinCoordStr_2=p.L68V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.start_1=140499618;refseq.start_2=140499618;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=gatk GT:AD:DP:GL:GQ 1/1:1007,7:2:-9.74,-0.60,-0.00:6.02 chrX 140506333 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=4;RankSumP=0.284026;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.126G>A;refseq.codingCoordStr_2=c.126G>A;refseq.codonCoord_1=42;refseq.codonCoord_2=42;refseq.end_1=140506333;refseq.end_2=140506333;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=162;refseq.mrnaCoord_2=186;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M42I;refseq.proteinCoordStr_2=p.M42I;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=54;refseq.spliceDist_2=54;refseq.start_1=140506333;refseq.start_2=140506333;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATA;refseq.variantCodon_2=ATA;set=FilteredInAll GT 1/0 chrX 140506382 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.436233;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.175T>G;refseq.codingCoordStr_2=c.175T>G;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=140506382;refseq.end_2=140506382;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=211;refseq.mrnaCoord_2=235;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F59V;refseq.proteinCoordStr_2=p.F59V;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=103;refseq.spliceDist_2=103;refseq.start_1=140506382;refseq.start_2=140506382;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;set=soap GT 1/0 chrX 140506384 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.372028;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.177T>G;refseq.codingCoordStr_2=c.177T>G;refseq.codonCoord_1=59;refseq.codonCoord_2=59;refseq.end_1=140506384;refseq.end_2=140506384;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=213;refseq.mrnaCoord_2=237;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.F59L;refseq.proteinCoordStr_2=p.F59L;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.spliceDist_1=105;refseq.spliceDist_2=105;refseq.start_1=140506384;refseq.start_2=140506384;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=TTG;refseq.variantCodon_2=TTG;set=soap GT 1/0 chrX 140506409 . C G 76 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.420396;SecondBestBaseQ=31;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.202C>G;refseq.codingCoordStr_2=c.202C>G;refseq.codonCoord_1=68;refseq.codonCoord_2=68;refseq.end_1=140506409;refseq.end_2=140506409;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=238;refseq.mrnaCoord_2=262;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L68V;refseq.proteinCoordStr_2=p.L68V;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTG;refseq.referenceCodon_2=CTG;refseq.spliceDist_1=130;refseq.spliceDist_2=130;refseq.start_1=140506409;refseq.start_2=140506409;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;set=soap GT 1/0 chrX 140506427 . G A 90 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=1;RankSumP=0.304389;SecondBestBaseQ=30;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.220G>A;refseq.codingCoordStr_2=c.220G>A;refseq.codonCoord_1=74;refseq.codonCoord_2=74;refseq.end_1=140506427;refseq.end_2=140506427;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=256;refseq.mrnaCoord_2=280;refseq.name2_1=SPANXA1;refseq.name2_2=SPANXA2;refseq.name_1=NM_013453;refseq.name_2=NM_145662;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E74K;refseq.proteinCoordStr_2=p.E74K;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-129;refseq.spliceDist_2=-139;refseq.start_1=140506427;refseq.start_2=140506427;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAG;refseq.variantCodon_2=AAG;set=soap GT 1/0 chrX 140810730 . G A 353.21 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=152;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=98.27;MQ0=0;OQ=5966.31;QD=39.25;RankSumP=1.00000;SB=-2434.23;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.919G>A;refseq.codingCoordStr_2=c.-369G>A;refseq.codonCoord_1=307;refseq.end_1=140810730;refseq.end_2=140810730;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=919;refseq.mrnaCoord_2=159;refseq.name2_1=MAGEC3;refseq.name2_2=MAGEC3;refseq.name_1=NM_138702;refseq.name_2=NM_177456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.A307T;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCC;refseq.spliceDist_1=10;refseq.spliceDist_2=10;refseq.spliceInfo_1=splice-acceptor_10;refseq.spliceInfo_2=splice-acceptor_10;refseq.start_1=140810730;refseq.start_2=140810730;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantCodon_1=ACC;set=Intersection GT 1/1 chrX 140810793 . G A 89.70 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=111;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=98.71;MQ0=0;OQ=4467.61;QD=40.25;RankSumP=1.00000;SB=-1578.12;SecondBestBaseQ=28;refseq.changesAA_1=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.982G>A;refseq.codingCoordStr_2=c.-306G>A;refseq.codonCoord_1=328;refseq.end_1=140810793;refseq.end_2=140810793;refseq.frame_1=0;refseq.functionalClass_1=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=false;refseq.mrnaCoord_1=982;refseq.mrnaCoord_2=222;refseq.name2_1=MAGEC3;refseq.name2_2=MAGEC3;refseq.name_1=NM_138702;refseq.name_2=NM_177456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=utr5;refseq.proteinCoordStr_1=p.A328T;refseq.referenceAA_1=Ala;refseq.referenceCodon_1=GCA;refseq.spliceDist_1=-67;refseq.spliceDist_2=-67;refseq.start_1=140810793;refseq.start_2=140810793;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantCodon_1=ACA;set=Intersection GT 1/1 chrX 140821411 . T A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=604;Dels=0.00;HRun=1;HaplotypeScore=370.53;MQ=93.46;MQ0=17;OQ=2604.19;QD=4.31;SB=-814.69;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.555T>A;refseq.codonCoord=185;refseq.end=140821411;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=879;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S185R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=551;refseq.start=140821411;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:462,141:552:-429.96,-166.25,-1702.53:99 chrX 140821518 . C G 7228.84 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=280.36;MQ=72.40;MQ0=90;QD=11.99;RankSumP=0.469025;SB=-1524.21;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.662C>G;refseq.codonCoord=221;refseq.end=140821518;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=986;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T221S;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=658;refseq.start=140821518;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=AGT;set=soap-filterIngatk GT 1/0 chrX 140821522 . G C 2877.43 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=585;Dels=0.00;HRun=0;HaplotypeScore=360.14;MQ=70.52;MQ0=90;QD=4.92;RankSumP=0.102159;SB=-1260.23;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.666G>C;refseq.codonCoord=222;refseq.end=140821522;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=990;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q222H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=662;refseq.start=140821522;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chrX 140821525 . T A 3187.74 BadSOAPSNP;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=567;Dels=0.00;HRun=1;HaplotypeScore=355.30;MQ=68.57;MQ0=91;QD=5.62;RankSumP=0.480577;SB=-481.43;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.669T>A;refseq.codonCoord=223;refseq.end=140821525;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=993;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S223R;refseq.referenceAA=Ser;refseq.referenceCodon=AGT;refseq.spliceDist=665;refseq.start=140821525;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=AGA;set=FilteredInAll GT 1/0 chrX 140821530 rs55909043 T C 4656.12 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=553;Dels=0.00;HRun=0;HaplotypeScore=234.62;MQ=66.79;MQ0=91;QD=8.42;SB=-384.54;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.674T>C;refseq.codonCoord=225;refseq.end=140821530;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=998;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F225S;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=670;refseq.start=140821530;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCT;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:437,115:441:-464.61,-132.80,-1431.13:99 chrX 140821541 . G C 399.22 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=561;Dels=0.00;HRun=3;HaplotypeScore=183.43;MQ=67.13;MQ0=90;QD=0.71;RankSumP=0.256301;SB=-215.52;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.685G>C;refseq.codonCoord=229;refseq.end=140821541;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1009;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A229P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=681;refseq.start=140821541;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap-filterIngatk GT 0/1 chrX 140821543 . C A 2506.28 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=543;Dels=0.00;HRun=0;HaplotypeScore=191.27;MQ=67.35;MQ0=87;QD=4.62;SB=-163.34;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.687C>A;refseq.codonCoord=229;refseq.end=140821543;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1011;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A229A;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=683;refseq.start=140821543;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:437,106:432:-383.99,-130.07,-1376.71:99 chrX 140821551 . C T 1188.75 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=527;Dels=0.00;HRun=1;HaplotypeScore=163.84;MQ=68.60;MQ0=81;QD=2.26;RankSumP=0.230215;SB=151.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.695C>T;refseq.codonCoord=232;refseq.end=140821551;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1019;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P232L;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=691;refseq.start=140821551;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTT;set=soap-filterIngatk GT 0/1 chrX 140821571 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=459;Dels=0.00;HRun=0;HaplotypeScore=47.78;MQ=74.17;MQ0=43;OQ=1504.70;QD=3.28;SB=-272.11;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.715C>T;refseq.codonCoord=239;refseq.end=140821571;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1039;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P239S;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=711;refseq.start=140821571;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:394,65:402:-274.80,-121.04,-1428.11:99 chrX 140821579 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=427;Dels=0.00;HRun=0;HaplotypeScore=39.41;MQ=76.74;MQ0=27;OQ=1138.19;QD=2.67;SB=-228.53;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.723C>G;refseq.codonCoord=241;refseq.end=140821579;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1047;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S241S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=719;refseq.start=140821579;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:375,52:390:-234.54,-117.44,-1684.32:99 chrX 140821592 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=354;Dels=0.00;HRun=0;HaplotypeScore=16.94;MQ=82.75;MQ0=2;OQ=1125.31;QD=3.18;RankSumP=0.157960;SB=-163.22;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.736C>G;refseq.codonCoord=246;refseq.end=140821592;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1060;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L246V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=732;refseq.start=140821592;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/0 chrX 140821627 rs176047 G C 15.65 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=85.38;MQ0=25;QD=0.07;SB=-27.34;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.771G>C;refseq.codonCoord=257;refseq.end=140821627;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1095;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q257H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=767;refseq.start=140821627;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:186,28:187:-61.15,-56.32,-847.55:48.37 chrX 140821646 rs176042 G C 682.49 ESPStandard;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=235;Dels=0.00;HRun=3;HaplotypeScore=9.47;MQ=76.55;MQ0=47;QD=2.90;SB=-305.41;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.790G>C;refseq.codonCoord=264;refseq.end=140821646;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1114;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A264P;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=786;refseq.start=140821646;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:166,69:171:-123.03,-51.49,-716.67:99 chrX 140821655 . T C 8275.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=26.72;MQ=67.65;MQ0=60;QD=29.45;RankSumP=1.00000;SB=-3522.54;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.799T>C;refseq.codonCoord=267;refseq.end=140821655;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1123;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S267P;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=795;refseq.start=140821655;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/1 chrX 140821656 . C T 6087.33 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=285;Dels=0.00;HRun=2;HaplotypeScore=27.30;MQ=66.80;MQ0=60;QD=21.36;RankSumP=0.217549;SB=-2586.71;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.800C>T;refseq.codonCoord=267;refseq.end=140821656;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1124;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S267F;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=796;refseq.start=140821656;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=soap-filterIngatk GT 0/1 chrX 140821683 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=429;Dels=0.00;HRun=1;HaplotypeScore=34.75;MQ=52.61;MQ0=92;OQ=8324.86;QD=19.41;RankSumP=0.498517;SB=-3517.87;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.827T>C;refseq.codonCoord=276;refseq.end=140821683;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1151;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F276S;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=823;refseq.start=140821683;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=Intersection GT 1/0 chrX 140821703 . C A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=604;Dels=0.00;HRun=0;HaplotypeScore=84.31;MQ=47.21;MQ0=131;OQ=3037.27;QD=5.03;RankSumP=0.340432;SB=-1125.46;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.847C>A;refseq.codonCoord=283;refseq.end=140821703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1171;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L283I;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=843;refseq.start=140821703;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=soap-filterIngatk GT 1/0 chrX 140821732 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=720;Dels=0.00;HRun=0;HaplotypeScore=96.96;MQ=49.94;MQ0=166;OQ=5552.58;QD=7.71;RankSumP=0.149096;SB=-1730.14;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.876G>C;refseq.codonCoord=292;refseq.end=140821732;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1200;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.Q292H;refseq.referenceAA=Gln;refseq.referenceCodon=CAG;refseq.spliceDist=872;refseq.start=140821732;refseq.transcriptStrand=+;refseq.variantAA=His;refseq.variantCodon=CAC;set=soap-filterIngatk GT 0/1 chrX 140821751 rs176046 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=767;Dels=0.00;HRun=0;HaplotypeScore=31.16;MQ=51.91;MQ0=154;OQ=717.77;QD=0.94;SB=605.85;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.895C>G;refseq.codonCoord=299;refseq.end=140821751;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1219;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P299A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=891;refseq.start=140821751;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:711,56:578:-249.10,-174.04,-2623.99:99 chrX 140821753 . C A -0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=775;Dels=0.00;HRun=0;HaplotypeScore=136.06;MQ=52.62;MQ0=150;OQ=298.37;QD=0.38;SB=637.73;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.897C>A;refseq.codonCoord=299;refseq.end=140821753;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1221;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P299P;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=893;refseq.start=140821753;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:715,59:591:-211.07,-177.95,-2203.83:99 chrX 140821762 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=0;RankSumP=0.00758699;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.906T>A;refseq.codonCoord=302;refseq.end=140821762;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1230;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.P302P;refseq.referenceAA=Pro;refseq.referenceCodon=CCT;refseq.spliceDist=902;refseq.start=140821762;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=FilteredInAll GT 1/0 chrX 140821789 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=839;Dels=0.00;HRun=0;HaplotypeScore=56.76;MQ=61.20;MQ0=105;OQ=8386.69;QD=10.00;SB=-2557.51;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.933C>G;refseq.codonCoord=311;refseq.end=140821789;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1257;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S311S;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=929;refseq.start=140821789;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:648,190:698:-837.67,-210.18,-2605.88:99 chrX 140821802 rs60520741 T C 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=811;Dels=0.00;HRun=0;HaplotypeScore=29.51;MQ=60.92;MQ0=114;OQ=7521.45;QD=9.27;SB=-2478.61;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.946T>C;refseq.codonCoord=316;refseq.end=140821802;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1270;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L316L;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=942;refseq.start=140821802;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=CTG;set=gatk GT:AD:DP:GL:GQ 0/1:617,190:653:-751.15,-196.63,-2052.43:99 chrX 140821837 . C G 37.26 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=590;Dels=0.00;HRun=0;HaplotypeScore=9.64;MQ=54.81;MQ0=129;OQ=19844.75;QD=33.64;RankSumP=1.00000;SB=-8199.07;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.981C>G;refseq.codonCoord=327;refseq.end=140821837;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1305;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H327Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=977;refseq.start=140821837;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/1 chrX 140821866 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=398;Dels=0.00;HRun=1;HaplotypeScore=4.57;MQ=40.90;MQ0=109;OQ=972.04;QD=2.44;RankSumP=0.466869;SB=-439.79;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1010T>C;refseq.codonCoord=337;refseq.end=140821866;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1334;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L337P;refseq.referenceAA=Leu;refseq.referenceCodon=CTT;refseq.spliceDist=1006;refseq.start=140821866;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCT;set=soap-filterIngatk GT 1/0 chrX 140821946 . A G 97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DP=251;Dels=0.00;HRun=0;HaplotypeScore=16.63;MQ=59.16;MQ0=85;OQ=5661.22;QD=22.55;RankSumP=1.00000;SB=-1773.42;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1090A>G;refseq.codonCoord=364;refseq.end=140821946;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1414;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T364A;refseq.referenceAA=Thr;refseq.referenceCodon=ACT;refseq.spliceDist=1086;refseq.start=140821946;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=Intersection GT 1/1 chrX 140822012 . C G 45.45 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=372;Dels=0.00;HRun=0;HaplotypeScore=47.53;MQ=51.52;MQ0=108;QD=0.12;SB=2.79;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1156C>G;refseq.codonCoord=386;refseq.end=140822012;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1480;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L386V;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=1152;refseq.start=140822012;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:268,68:244:-109.73,-101.91,-1109.78:78.29 chrX 140822047 . C G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DP=565;Dels=0.00;HRun=0;HaplotypeScore=15.67;MQ=38.94;MQ0=137;OQ=6496.97;QD=11.50;RankSumP=0.371375;SB=-2547.02;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1191C>G;refseq.codonCoord=397;refseq.end=140822047;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1515;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H397Q;refseq.referenceAA=His;refseq.referenceCodon=CAC;refseq.spliceDist=1187;refseq.start=140822047;refseq.transcriptStrand=+;refseq.variantAA=Gln;refseq.variantCodon=CAG;set=Intersection GT 1/0 chrX 140822128 . A C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=420;Dels=0.00;HRun=1;HaplotypeScore=6.96;MQ=44.24;MQ0=93;OQ=789.93;QD=1.88;RankSumP=0.347315;SB=-302.48;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1272A>C;refseq.codonCoord=424;refseq.end=140822128;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1596;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L424F;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=1268;refseq.start=140822128;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTC;set=Intersection GT 0/1 chrX 140822183 . C G 166.67 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=422;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=79.79;MQ0=22;OQ=7514.36;QD=17.81;RankSumP=0.126826;SB=-2806.33;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1327C>G;refseq.codonCoord=443;refseq.end=140822183;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1651;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L443V;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=1323;refseq.start=140822183;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 1/0 chrX 140822981 . C T 137.27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=98.49;MQ0=0;OQ=2063.65;QD=16.38;RankSumP=0.119339;SB=-675.56;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2125C>T;refseq.codonCoord=709;refseq.end=140822981;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2449;refseq.name=NM_005462;refseq.name2=MAGEC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.H709Y;refseq.referenceAA=His;refseq.referenceCodon=CAT;refseq.spliceDist=-1871;refseq.start=140822981;refseq.transcriptStrand=+;refseq.variantAA=Tyr;refseq.variantCodon=TAT;set=Intersection GT 0/1 chrX 141118531 . C T 248.68 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=98.33;MQ0=0;OQ=4913.28;QD=18.82;RankSumP=0.416100;SB=-1727.49;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.909G>A;refseq.codonCoord=303;refseq.end=141118531;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1257;refseq.name=NM_016249;refseq.name2=MAGEC2;refseq.positionType=CDS;refseq.proteinCoordStr=p.P303P;refseq.referenceAA=Pro;refseq.referenceCodon=CCG;refseq.spliceDist=-737;refseq.start=141118531;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCA;set=Intersection GT 0/1 chrX 142544806 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1785A>C;refseq.codonCoord=595;refseq.end=142544806;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2161;refseq.name=NM_173078;refseq.name2=SLITRK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.A595A;refseq.referenceAA=Ala;refseq.referenceCodon=GCA;refseq.spliceDist=-1199;refseq.start=142544806;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chrX 142545062 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1529A>C;refseq.codonCoord=510;refseq.end=142545062;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1905;refseq.name=NM_173078;refseq.name2=SLITRK4;refseq.positionType=CDS;refseq.proteinCoordStr=p.Y510S;refseq.referenceAA=Tyr;refseq.referenceCodon=TAC;refseq.spliceDist=-1455;refseq.start=142545062;refseq.transcriptStrand=-;refseq.variantAA=Ser;refseq.variantCodon=TCC;set=FilteredInAll GT 1/0 chrX 142622891 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=2239;Dels=0.00;HRun=0;HaplotypeScore=37.00;MQ=53.35;MQ0=602;OQ=33244.50;QD=14.85;RankSumP=0.0772624;SB=-13826.29;SecondBestBaseQ=33;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.453C>T;refseq.codonCoord=151;refseq.end=142622891;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1207;refseq.name=NM_001009615;refseq.name2=SPANXN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.D151D;refseq.referenceAA=Asp;refseq.referenceCodon=GAC;refseq.spliceDist=-171;refseq.start=142622891;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAT;set=soap-filterIngatk GT 1/0 chrX 142795134 . T G 276.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=261;Dels=0.00;HRun=0;HaplotypeScore=10.04;MQ=97.18;MQ0=1;OQ=6023.66;QD=23.08;RankSumP=0.345405;SB=-2297.82;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.266T>G;refseq.codonCoord=89;refseq.end=142795134;refseq.frame=1;refseq.functionalClass=nonsense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=296;refseq.name=NM_001012989;refseq.name2=UBE2NL;refseq.positionType=CDS;refseq.proteinCoordStr=p.L89*;refseq.referenceAA=Leu;refseq.referenceCodon=TTA;refseq.spliceDist=296;refseq.start=142795134;refseq.transcriptStrand=+;refseq.variantAA=Stop;refseq.variantCodon=TGA;set=Intersection GT 1/0 chrX 144711944 . G A 255.04 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=98.51;MQ0=0;OQ=4859.25;QD=22.71;RankSumP=0.412841;SB=-1462.71;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.codingCoordStr_1=c.309G>A;refseq.codingCoordStr_2=c.309G>A;refseq.codingCoordStr_3=c.309G>A;refseq.codingCoordStr_4=c.309G>A;refseq.codingCoordStr_5=c.309G>A;refseq.codingCoordStr_6=c.309G>A;refseq.codingCoordStr_7=c.309G>A;refseq.codingCoordStr_8=c.309G>A;refseq.codonCoord_1=103;refseq.codonCoord_2=103;refseq.codonCoord_3=103;refseq.codonCoord_4=103;refseq.codonCoord_5=103;refseq.codonCoord_6=103;refseq.codonCoord_7=103;refseq.codonCoord_8=103;refseq.end_1=144711944;refseq.end_2=144711944;refseq.end_3=144711944;refseq.end_4=144711944;refseq.end_5=144711944;refseq.end_6=144711944;refseq.end_7=144711944;refseq.end_8=144711944;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeAlternate_5=A;refseq.haplotypeAlternate_6=A;refseq.haplotypeAlternate_7=A;refseq.haplotypeAlternate_8=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.haplotypeReference_5=G;refseq.haplotypeReference_6=G;refseq.haplotypeReference_7=G;refseq.haplotypeReference_8=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=816;refseq.mrnaCoord_2=804;refseq.mrnaCoord_3=826;refseq.mrnaCoord_4=1036;refseq.mrnaCoord_5=1048;refseq.mrnaCoord_6=889;refseq.mrnaCoord_7=1026;refseq.mrnaCoord_8=1299;refseq.name2_1=SLITRK2;refseq.name2_2=SLITRK2;refseq.name2_3=SLITRK2;refseq.name2_4=SLITRK2;refseq.name2_5=SLITRK2;refseq.name2_6=SLITRK2;refseq.name2_7=SLITRK2;refseq.name2_8=SLITRK2;refseq.name_1=NM_001144003;refseq.name_2=NM_001144004;refseq.name_3=NM_001144005;refseq.name_4=NM_001144006;refseq.name_5=NM_001144008;refseq.name_6=NM_001144009;refseq.name_7=NM_001144010;refseq.name_8=NM_032539;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.T103T;refseq.proteinCoordStr_2=p.T103T;refseq.proteinCoordStr_3=p.T103T;refseq.proteinCoordStr_4=p.T103T;refseq.proteinCoordStr_5=p.T103T;refseq.proteinCoordStr_6=p.T103T;refseq.proteinCoordStr_7=p.T103T;refseq.proteinCoordStr_8=p.T103T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceAA_5=Thr;refseq.referenceAA_6=Thr;refseq.referenceAA_7=Thr;refseq.referenceAA_8=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.referenceCodon_5=ACG;refseq.referenceCodon_6=ACG;refseq.referenceCodon_7=ACG;refseq.referenceCodon_8=ACG;refseq.spliceDist_1=352;refseq.spliceDist_2=340;refseq.spliceDist_3=352;refseq.spliceDist_4=340;refseq.spliceDist_5=352;refseq.spliceDist_6=352;refseq.spliceDist_7=340;refseq.spliceDist_8=352;refseq.start_1=144711944;refseq.start_2=144711944;refseq.start_3=144711944;refseq.start_4=144711944;refseq.start_5=144711944;refseq.start_6=144711944;refseq.start_7=144711944;refseq.start_8=144711944;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantAA_5=Thr;refseq.variantAA_6=Thr;refseq.variantAA_7=Thr;refseq.variantAA_8=Thr;refseq.variantCodon_1=ACA;refseq.variantCodon_2=ACA;refseq.variantCodon_3=ACA;refseq.variantCodon_4=ACA;refseq.variantCodon_5=ACA;refseq.variantCodon_6=ACA;refseq.variantCodon_7=ACA;refseq.variantCodon_8=ACA;set=Intersection GT 1/0 chrX 144712574 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=213;Dels=0.00;HRun=2;HaplotypeScore=10.92;MQ=98.71;MQ0=0;OQ=4670.88;QD=21.93;RankSumP=0.214417;SB=-1527.76;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.changesAA_5=false;refseq.changesAA_6=false;refseq.changesAA_7=false;refseq.changesAA_8=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.chr_5=chrX;refseq.chr_6=chrX;refseq.chr_7=chrX;refseq.chr_8=chrX;refseq.codingCoordStr_1=c.939T>C;refseq.codingCoordStr_2=c.939T>C;refseq.codingCoordStr_3=c.939T>C;refseq.codingCoordStr_4=c.939T>C;refseq.codingCoordStr_5=c.939T>C;refseq.codingCoordStr_6=c.939T>C;refseq.codingCoordStr_7=c.939T>C;refseq.codingCoordStr_8=c.939T>C;refseq.codonCoord_1=313;refseq.codonCoord_2=313;refseq.codonCoord_3=313;refseq.codonCoord_4=313;refseq.codonCoord_5=313;refseq.codonCoord_6=313;refseq.codonCoord_7=313;refseq.codonCoord_8=313;refseq.end_1=144712574;refseq.end_2=144712574;refseq.end_3=144712574;refseq.end_4=144712574;refseq.end_5=144712574;refseq.end_6=144712574;refseq.end_7=144712574;refseq.end_8=144712574;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.frame_5=2;refseq.frame_6=2;refseq.frame_7=2;refseq.frame_8=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.functionalClass_5=silent;refseq.functionalClass_6=silent;refseq.functionalClass_7=silent;refseq.functionalClass_8=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=C;refseq.haplotypeAlternate_6=C;refseq.haplotypeAlternate_7=C;refseq.haplotypeAlternate_8=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.haplotypeReference_5=T;refseq.haplotypeReference_6=T;refseq.haplotypeReference_7=T;refseq.haplotypeReference_8=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.inCodingRegion_5=true;refseq.inCodingRegion_6=true;refseq.inCodingRegion_7=true;refseq.inCodingRegion_8=true;refseq.mrnaCoord_1=1446;refseq.mrnaCoord_2=1434;refseq.mrnaCoord_3=1456;refseq.mrnaCoord_4=1666;refseq.mrnaCoord_5=1678;refseq.mrnaCoord_6=1519;refseq.mrnaCoord_7=1656;refseq.mrnaCoord_8=1929;refseq.name2_1=SLITRK2;refseq.name2_2=SLITRK2;refseq.name2_3=SLITRK2;refseq.name2_4=SLITRK2;refseq.name2_5=SLITRK2;refseq.name2_6=SLITRK2;refseq.name2_7=SLITRK2;refseq.name2_8=SLITRK2;refseq.name_1=NM_001144003;refseq.name_2=NM_001144004;refseq.name_3=NM_001144005;refseq.name_4=NM_001144006;refseq.name_5=NM_001144008;refseq.name_6=NM_001144009;refseq.name_7=NM_001144010;refseq.name_8=NM_032539;refseq.numMatchingRecords=8;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.positionType_5=CDS;refseq.positionType_6=CDS;refseq.positionType_7=CDS;refseq.positionType_8=CDS;refseq.proteinCoordStr_1=p.P313P;refseq.proteinCoordStr_2=p.P313P;refseq.proteinCoordStr_3=p.P313P;refseq.proteinCoordStr_4=p.P313P;refseq.proteinCoordStr_5=p.P313P;refseq.proteinCoordStr_6=p.P313P;refseq.proteinCoordStr_7=p.P313P;refseq.proteinCoordStr_8=p.P313P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceAA_5=Pro;refseq.referenceAA_6=Pro;refseq.referenceAA_7=Pro;refseq.referenceAA_8=Pro;refseq.referenceCodon_1=CCT;refseq.referenceCodon_2=CCT;refseq.referenceCodon_3=CCT;refseq.referenceCodon_4=CCT;refseq.referenceCodon_5=CCT;refseq.referenceCodon_6=CCT;refseq.referenceCodon_7=CCT;refseq.referenceCodon_8=CCT;refseq.spliceDist_1=982;refseq.spliceDist_2=970;refseq.spliceDist_3=982;refseq.spliceDist_4=970;refseq.spliceDist_5=982;refseq.spliceDist_6=982;refseq.spliceDist_7=970;refseq.spliceDist_8=982;refseq.start_1=144712574;refseq.start_2=144712574;refseq.start_3=144712574;refseq.start_4=144712574;refseq.start_5=144712574;refseq.start_6=144712574;refseq.start_7=144712574;refseq.start_8=144712574;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantAA_5=Pro;refseq.variantAA_6=Pro;refseq.variantAA_7=Pro;refseq.variantAA_8=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;refseq.variantCodon_3=CCC;refseq.variantCodon_4=CCC;refseq.variantCodon_5=CCC;refseq.variantCodon_6=CCC;refseq.variantCodon_7=CCC;refseq.variantCodon_8=CCC;set=Intersection GT 1/0 chrX 144883994 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=91;Dels=0.00;HRun=2;HaplotypeScore=3.31;MQ=98.90;MQ0=0;OQ=1552.20;QD=17.06;RankSumP=0.179241;SB=-377.50;SecondBestBaseQ=33;set=Intersection GT 1/0 chrX 146168530 . A T 8 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.400000;SecondBestBaseQ=34;refseq.chr=chrX;refseq.end=146168530;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=25;refseq.name=NR_030238;refseq.name2=MIR514-1;refseq.positionType=non_coding_exon;refseq.spliceDist=25;refseq.start=146168530;refseq.transcriptStrand=-;set=FilteredInAll GT 0/1 chrX 146817955 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.357A>C;refseq.codonCoord=119;refseq.end=146817955;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=546;refseq.name=NM_002024;refseq.name2=FMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K119N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-63;refseq.start=146817955;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chrX 148489836 rs2071186 C T 0.39 PASS AC=1;AF=0.50;AN=2;DB;DP=557;Dels=0.00;HRun=0;HaplotypeScore=17.19;MQ=3.30;MQ0=545;OQ=143.84;QD=0.26;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.435G>A;refseq.codingCoordStr_2=c.612G>A;refseq.codonCoord_1=145;refseq.codonCoord_2=204;refseq.end_1=148489836;refseq.end_2=148489836;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=665;refseq.mrnaCoord_2=842;refseq.name2_1=TMEM185A;refseq.name2_2=TMEM185A;refseq.name_1=NM_001174092;refseq.name_2=NM_032508;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.A145A;refseq.proteinCoordStr_2=p.A204A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceCodon_1=GCG;refseq.referenceCodon_2=GCG;refseq.spliceDist_1=-73;refseq.spliceDist_2=-73;refseq.start_1=148489836;refseq.start_2=148489836;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantCodon_1=GCA;refseq.variantCodon_2=GCA;set=gatk GT:AD:DP:GL:GQ 0/1:424,133:10:-20.68,-3.01,-18.84:99 chrX 148500838 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=17;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.148T>G;refseq.codonCoord_2=50;refseq.end_1=148521016;refseq.end_2=148500838;refseq.frame_2=0;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.mrnaCoord_2=378;refseq.name2_1=TMEM185A;refseq.name2_2=TMEM185A;refseq.name_1=NM_001174092;refseq.name_2=NM_032508;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.W50G;refseq.referenceAA_2=Trp;refseq.referenceCodon_2=TGG;refseq.spliceDist_2=-68;refseq.start_1=148498328;refseq.start_2=148500838;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_2=Gly;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 148576138 . A C 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=183;Dels=0.00;HRun=2;HaplotypeScore=33.42;MQ=95.80;MQ0=0;OQ=188.20;QD=1.03;RankSumP=0.00000;SB=203.67;SecondBestBaseQ=16;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1034T>G;refseq.codingCoordStr_2=c.1121T>G;refseq.codonCoord_1=345;refseq.codonCoord_2=374;refseq.end_1=148576138;refseq.end_2=148576138;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1224;refseq.mrnaCoord_2=1223;refseq.name2_1=MAGEA11;refseq.name2_2=MAGEA11;refseq.name_1=NM_001011544;refseq.name_2=NM_005366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V345G;refseq.proteinCoordStr_2=p.V374G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-662;refseq.spliceDist_2=-662;refseq.start_1=148576138;refseq.start_2=148576138;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 148576182 . G A 222.09 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=93.69;MQ0=0;OQ=5056.41;QD=40.45;RankSumP=1.00000;SB=-1812.37;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.990C>T;refseq.codingCoordStr_2=c.1077C>T;refseq.codonCoord_1=330;refseq.codonCoord_2=359;refseq.end_1=148576182;refseq.end_2=148576182;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1180;refseq.mrnaCoord_2=1179;refseq.name2_1=MAGEA11;refseq.name2_2=MAGEA11;refseq.name_1=NM_001011544;refseq.name_2=NM_005366;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.L330L;refseq.proteinCoordStr_2=p.L359L;refseq.referenceAA_1=Leu;refseq.referenceAA_2=Leu;refseq.referenceCodon_1=CTC;refseq.referenceCodon_2=CTC;refseq.spliceDist_1=-706;refseq.spliceDist_2=-706;refseq.start_1=148576182;refseq.start_2=148576182;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Leu;refseq.variantAA_2=Leu;refseq.variantCodon_1=CTT;refseq.variantCodon_2=CTT;set=Intersection GT 1/1 chrX 148664201 . A G 3 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.285714;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.54A>G;refseq.codingCoordStr_2=c.54A>G;refseq.codonCoord_1=18;refseq.codonCoord_2=18;refseq.end_1=148664201;refseq.end_2=148664201;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=668;refseq.mrnaCoord_2=668;refseq.name2_1=HSFX2;refseq.name2_2=HSFX1;refseq.name_1=NM_001164415;refseq.name_2=NM_016153;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R18R;refseq.proteinCoordStr_2=p.R18R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=-511;refseq.spliceDist_2=-511;refseq.start_1=148664201;refseq.start_2=148664201;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGG;refseq.variantCodon_2=AGG;set=FilteredInAll GT 0/1 chrX 148774385 . A G 276.11 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=328;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=98.69;MQ0=0;OQ=12247.27;QD=37.34;RankSumP=1.00000;SB=-5493.37;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.681A>G;refseq.codingCoordStr_2=c.681A>G;refseq.codingCoordStr_3=c.681A>G;refseq.codonCoord_1=227;refseq.codonCoord_2=227;refseq.codonCoord_3=227;refseq.end_1=148774385;refseq.end_2=148774385;refseq.end_3=148774385;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1230;refseq.mrnaCoord_2=1202;refseq.mrnaCoord_3=951;refseq.name2_1=MAGEA8;refseq.name2_2=MAGEA8;refseq.name2_3=MAGEA8;refseq.name_1=NM_001166400;refseq.name_2=NM_001166401;refseq.name_3=NM_005364;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.A227A;refseq.proteinCoordStr_2=p.A227A;refseq.proteinCoordStr_3=p.A227A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.spliceDist_1=744;refseq.spliceDist_2=744;refseq.spliceDist_3=744;refseq.start_1=148774385;refseq.start_2=148774385;refseq.start_3=148774385;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;set=Intersection GT 1/1 chrX 149388881 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.378C>G;refseq.codonCoord=126;refseq.end=149388881;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=441;refseq.name=NM_005491;refseq.name2=MAMLD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G126G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=207;refseq.start=149388881;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 149649703 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.682A>G;refseq.codonCoord=228;refseq.end=149649703;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=817;refseq.name=NM_003828;refseq.name2=MTMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K228E;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=-36;refseq.start=149649703;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAA;set=FilteredInAll GT 0/1 chrX 149681764 . C T 177.17 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=228;Dels=0.00;HRun=0;HaplotypeScore=8.72;MQ=98.72;MQ0=0;OQ=7522.94;QD=33.00;RankSumP=1.00000;SB=-1603.19;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1902C>T;refseq.codonCoord=634;refseq.end=149681764;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2037;refseq.name=NM_003828;refseq.name2=MTMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G634G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=69;refseq.start=149681764;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGT;set=Intersection GT 1/1 chrX 149681843 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.82;MQ=98.26;MQ0=0;OQ=1376.97;QD=11.97;RankSumP=0.0136511;SB=-594.96;SecondBestBaseQ=25;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1981G>A;refseq.codonCoord=661;refseq.end=149681843;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2116;refseq.name=NM_003828;refseq.name2=MTMR1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V661I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-26;refseq.start=149681843;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=Intersection GT 1/0 chrX 150100279 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=0.00000;SecondBestBaseQ=7;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1566G>C;refseq.codonCoord=522;refseq.end=150100279;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=1704;refseq.name=NM_004224;refseq.name2=GPR50;refseq.positionType=CDS;refseq.proteinCoordStr=p.K522N;refseq.referenceAA=Lys;refseq.referenceCodon=AAG;refseq.spliceDist=-317;refseq.start=150100279;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chrX 150100529 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=531;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=98.75;MQ0=0;OQ=21898.67;QD=41.24;RankSumP=1.00000;SB=-10187.14;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1816A>G;refseq.codonCoord=606;refseq.end=150100529;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=1954;refseq.name=NM_004224;refseq.name2=GPR50;refseq.positionType=CDS;refseq.proteinCoordStr=p.I606V;refseq.referenceAA=Ile;refseq.referenceCodon=ATT;refseq.spliceDist=-67;refseq.start=150100529;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTT;set=Intersection GT 1/1 chrX 150542090 . G T 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=28;DP=869;Dels=0.00;HRun=4;HaplotypeScore=49.21;MQ=98.39;MQ0=0;OQ=1291.21;QD=1.49;RankSumP=0.00000;SB=1431.64;SecondBestBaseQ=17;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.444G>T;refseq.codonCoord=148;refseq.end=150542090;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=776;refseq.name=NM_173493;refseq.name2=PASD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L148F;refseq.referenceAA=Leu;refseq.referenceCodon=TTG;refseq.spliceDist=26;refseq.start=150542090;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 0/1 chrX 150591572 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=98.38;MQ0=0;OQ=538.26;QD=13.80;RankSumP=0.230773;SB=-10.00;SecondBestBaseQ=27;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.1699C>T;refseq.codonCoord=567;refseq.end=150591572;refseq.frame=0;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2031;refseq.name=NM_173493;refseq.name2=PASD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L567L;refseq.referenceAA=Leu;refseq.referenceCodon=CTG;refseq.spliceDist=-218;refseq.start=150591572;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chrX 150617951 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.7+2;refseq.end_1=150617951;refseq.end_2=150617951;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.inCodingRegion_2=false;refseq.name2_1=PRRG3;refseq.name2_2=PRRG3;refseq.name_1=NR_033262;refseq.name_2=NM_024082;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=150617951;refseq.start_2=150617951;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;set=FilteredInAll GT 1/0 chrX 150619923 . A G 51.55 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=562.87;QD=31.27;RankSumP=1.00000;SB=-130.88;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.458A>G;refseq.codonCoord_2=153;refseq.end_1=150619923;refseq.end_2=150619923;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=848;refseq.mrnaCoord_2=507;refseq.name2_1=PRRG3;refseq.name2_2=PRRG3;refseq.name_1=NR_033262;refseq.name_2=NM_024082;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N153S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=290;refseq.spliceDist_2=290;refseq.start_1=150619923;refseq.start_2=150619923;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGC;set=Intersection GT 1/1 chrX 150657642 . T C 26.48 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=239;Dels=0.00;HRun=4;HaplotypeScore=16.98;MQ=98.88;MQ0=0;QD=0.11;RankSumP=0.00000;SB=462.57;SecondBestBaseQ=14;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.31T>C;refseq.codonCoord=11;refseq.end=150657642;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=255;refseq.name=NM_005140;refseq.name2=CNGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.S11P;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=57;refseq.start=150657642;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 150659963 . G T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=223;Dels=0.00;HRun=2;HaplotypeScore=3.99;MQ=98.63;MQ0=0;OQ=2873.03;QD=12.88;RankSumP=0.461468;SB=-952.19;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.416G>T;refseq.codonCoord=139;refseq.end=150659963;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=640;refseq.name=NM_005140;refseq.name2=CNGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.W139L;refseq.referenceAA=Trp;refseq.referenceCodon=TGG;refseq.spliceDist=42;refseq.start=150659963;refseq.transcriptStrand=+;refseq.variantAA=Leu;refseq.variantCodon=TTG;set=Intersection GT 0/1 chrX 150661711 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=351;Dels=0.00;HRun=2;HaplotypeScore=32.69;MQ=98.13;MQ0=0;OQ=231.17;QD=0.66;RankSumP=0.00000;SB=480.54;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.530T>G;refseq.codonCoord=177;refseq.end=150661711;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=754;refseq.name=NM_005140;refseq.name2=CNGA2;refseq.positionType=CDS;refseq.proteinCoordStr=p.V177G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=48;refseq.start=150661711;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 150842876 . A G 286.41 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=169;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=98.17;MQ0=0;OQ=2713.77;QD=16.06;RankSumP=0.0243640;SB=-1082.01;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.84A>G;refseq.codingCoordStr_2=c.84A>G;refseq.codingCoordStr_3=c.84A>G;refseq.codingCoordStr_4=c.84A>G;refseq.codonCoord_1=28;refseq.codonCoord_2=28;refseq.codonCoord_3=28;refseq.codonCoord_4=28;refseq.end_1=150842876;refseq.end_2=150842876;refseq.end_3=150842876;refseq.end_4=150842876;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=302;refseq.mrnaCoord_2=299;refseq.mrnaCoord_3=290;refseq.mrnaCoord_4=305;refseq.name2_1=MAGEA4;refseq.name2_2=MAGEA4;refseq.name2_3=MAGEA4;refseq.name2_4=MAGEA4;refseq.name_1=NM_001011548;refseq.name_2=NM_001011549;refseq.name_3=NM_001011550;refseq.name_4=NM_002362;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A28A;refseq.proteinCoordStr_2=p.A28A;refseq.proteinCoordStr_3=p.A28A;refseq.proteinCoordStr_4=p.A28A;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCA;refseq.referenceCodon_2=GCA;refseq.referenceCodon_3=GCA;refseq.referenceCodon_4=GCA;refseq.spliceDist_1=149;refseq.spliceDist_2=149;refseq.spliceDist_3=149;refseq.spliceDist_4=149;refseq.start_1=150842876;refseq.start_2=150842876;refseq.start_3=150842876;refseq.start_4=150842876;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ala;refseq.variantAA_2=Ala;refseq.variantAA_3=Ala;refseq.variantAA_4=Ala;refseq.variantCodon_1=GCG;refseq.variantCodon_2=GCG;refseq.variantCodon_3=GCG;refseq.variantCodon_4=GCG;set=Intersection GT 0/1 chrX 150843309 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=804;Dels=0.00;HRun=0;HaplotypeScore=24.17;MQ=98.13;MQ0=0;OQ=17321.71;QD=21.54;RankSumP=0.437555;SB=-6374.62;SecondBestBaseQ=32;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.517G>A;refseq.codingCoordStr_2=c.517G>A;refseq.codingCoordStr_3=c.517G>A;refseq.codingCoordStr_4=c.517G>A;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.codonCoord_3=173;refseq.codonCoord_4=173;refseq.end_1=150843309;refseq.end_2=150843309;refseq.end_3=150843309;refseq.end_4=150843309;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=735;refseq.mrnaCoord_2=732;refseq.mrnaCoord_3=723;refseq.mrnaCoord_4=738;refseq.name2_1=MAGEA4;refseq.name2_2=MAGEA4;refseq.name2_3=MAGEA4;refseq.name2_4=MAGEA4;refseq.name_1=NM_001011548;refseq.name_2=NM_001011549;refseq.name_3=NM_001011550;refseq.name_4=NM_002362;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A173T;refseq.proteinCoordStr_2=p.A173T;refseq.proteinCoordStr_3=p.A173T;refseq.proteinCoordStr_4=p.A173T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCC;refseq.referenceCodon_2=GCC;refseq.referenceCodon_3=GCC;refseq.referenceCodon_4=GCC;refseq.spliceDist_1=582;refseq.spliceDist_2=582;refseq.spliceDist_3=582;refseq.spliceDist_4=582;refseq.start_1=150843309;refseq.start_2=150843309;refseq.start_3=150843309;refseq.start_4=150843309;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;refseq.variantCodon_3=ACC;refseq.variantCodon_4=ACC;set=Intersection GT 1/0 chrX 150843440 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=630;Dels=0.00;HRun=0;HaplotypeScore=13.32;MQ=98.71;MQ0=0;OQ=14522.67;QD=23.05;RankSumP=0.187839;SB=-6164.89;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.648C>T;refseq.codingCoordStr_2=c.648C>T;refseq.codingCoordStr_3=c.648C>T;refseq.codingCoordStr_4=c.648C>T;refseq.codonCoord_1=216;refseq.codonCoord_2=216;refseq.codonCoord_3=216;refseq.codonCoord_4=216;refseq.end_1=150843440;refseq.end_2=150843440;refseq.end_3=150843440;refseq.end_4=150843440;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=866;refseq.mrnaCoord_2=863;refseq.mrnaCoord_3=854;refseq.mrnaCoord_4=869;refseq.name2_1=MAGEA4;refseq.name2_2=MAGEA4;refseq.name2_3=MAGEA4;refseq.name2_4=MAGEA4;refseq.name_1=NM_001011548;refseq.name_2=NM_001011549;refseq.name_3=NM_001011550;refseq.name_4=NM_002362;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S216S;refseq.proteinCoordStr_2=p.S216S;refseq.proteinCoordStr_3=p.S216S;refseq.proteinCoordStr_4=p.S216S;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=713;refseq.spliceDist_2=713;refseq.spliceDist_3=713;refseq.spliceDist_4=713;refseq.start_1=150843440;refseq.start_2=150843440;refseq.start_3=150843440;refseq.start_4=150843440;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantAA_4=Ser;refseq.variantCodon_1=AGT;refseq.variantCodon_2=AGT;refseq.variantCodon_3=AGT;refseq.variantCodon_4=AGT;set=Intersection GT 0/1 chrX 150843577 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.785T>G;refseq.codingCoordStr_2=c.785T>G;refseq.codingCoordStr_3=c.785T>G;refseq.codingCoordStr_4=c.785T>G;refseq.codonCoord_1=262;refseq.codonCoord_2=262;refseq.codonCoord_3=262;refseq.codonCoord_4=262;refseq.end_1=150843577;refseq.end_2=150843577;refseq.end_3=150843577;refseq.end_4=150843577;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1003;refseq.mrnaCoord_2=1000;refseq.mrnaCoord_3=991;refseq.mrnaCoord_4=1006;refseq.name2_1=MAGEA4;refseq.name2_2=MAGEA4;refseq.name2_3=MAGEA4;refseq.name2_4=MAGEA4;refseq.name_1=NM_001011548;refseq.name_2=NM_001011549;refseq.name_3=NM_001011550;refseq.name_4=NM_002362;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V262G;refseq.proteinCoordStr_2=p.V262G;refseq.proteinCoordStr_3=p.V262G;refseq.proteinCoordStr_4=p.V262G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTA;refseq.referenceCodon_2=GTA;refseq.referenceCodon_3=GTA;refseq.referenceCodon_4=GTA;refseq.spliceDist_1=-722;refseq.spliceDist_2=-722;refseq.spliceDist_3=-722;refseq.spliceDist_4=-722;refseq.start_1=150843577;refseq.start_2=150843577;refseq.start_3=150843577;refseq.start_4=150843577;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGA;refseq.variantCodon_2=GGA;refseq.variantCodon_3=GGA;refseq.variantCodon_4=GGA;set=FilteredInAll GT 1/0 chrX 150873846 . C A 47.82 BadSOAPSNP;ESPStandard;LowQual AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=93;Dels=0.00;HRun=3;HaplotypeScore=7.50;MQ=98.34;MQ0=0;QD=0.51;RankSumP=0.00000;SB=161.56;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1504G>T;refseq.codonCoord=502;refseq.end=150873846;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=1558;refseq.name=NM_004961;refseq.name2=GABRE;refseq.positionType=CDS;refseq.proteinCoordStr=p.V502F;refseq.referenceAA=Val;refseq.referenceCodon=GTT;refseq.spliceDist=367;refseq.start=150873846;refseq.transcriptStrand=-;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=FilteredInAll GT 1/0 chrX 150888835 . A C 268.57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=33;DB;DP=496;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=98.91;MQ0=0;OQ=8578.30;QD=17.29;RankSumP=0.00262043;SB=-3003.23;SecondBestBaseQ=31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.304T>G;refseq.codonCoord=102;refseq.end=150888835;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=358;refseq.name=NM_004961;refseq.name2=GABRE;refseq.positionType=CDS;refseq.proteinCoordStr=p.S102A;refseq.referenceAA=Ser;refseq.referenceCodon=TCC;refseq.spliceDist=30;refseq.start=150888835;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=filterInsoap-gatk GT 0/1 chrX 151053892 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=12;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.857T>G;refseq.codingCoordStr_2=c.857T>G;refseq.codonCoord_1=286;refseq.codonCoord_2=286;refseq.end_1=151053892;refseq.end_2=151053892;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1265;refseq.mrnaCoord_2=1174;refseq.name2_1=MAGEA10;refseq.name2_2=MAGEA10;refseq.name_1=NM_001011543;refseq.name_2=NM_021048;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V286G;refseq.proteinCoordStr_2=p.V286G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-329;refseq.spliceDist_2=-329;refseq.start_1=151053892;refseq.start_2=151053892;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=FilteredInAll GT 0/1 chrX 151054049 . C T 234.48 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=274;Dels=0.00;HRun=1;HaplotypeScore=6.78;MQ=98.65;MQ0=0;OQ=11602.08;QD=42.34;RankSumP=1.00000;SB=-5659.39;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.700G>A;refseq.codingCoordStr_2=c.700G>A;refseq.codonCoord_1=234;refseq.codonCoord_2=234;refseq.end_1=151054049;refseq.end_2=151054049;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1108;refseq.mrnaCoord_2=1017;refseq.name2_1=MAGEA10;refseq.name2_2=MAGEA10;refseq.name_1=NM_001011543;refseq.name_2=NM_021048;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V234I;refseq.proteinCoordStr_2=p.V234I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-486;refseq.spliceDist_2=-486;refseq.start_1=151054049;refseq.start_2=151054049;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chrX 151054252 . C T 66 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=272;Dels=0.00;HRun=3;HaplotypeScore=1.03;MQ=98.89;MQ0=0;OQ=11785.35;QD=43.33;RankSumP=1.00000;SB=-5030.93;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.497G>A;refseq.codingCoordStr_2=c.497G>A;refseq.codonCoord_1=166;refseq.codonCoord_2=166;refseq.end_1=151054252;refseq.end_2=151054252;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=905;refseq.mrnaCoord_2=814;refseq.name2_1=MAGEA10;refseq.name2_2=MAGEA10;refseq.name_1=NM_001011543;refseq.name_2=NM_021048;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R166K;refseq.proteinCoordStr_2=p.R166K;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGA;refseq.referenceCodon_2=AGA;refseq.spliceDist_1=562;refseq.spliceDist_2=562;refseq.start_1=151054252;refseq.start_2=151054252;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;set=Intersection GT 1/1 chrX 151571933 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=684;Dels=0.00;HRun=0;HaplotypeScore=30.17;MQ=98.64;MQ0=0;OQ=13001.09;QD=19.01;RankSumP=0.391910;SB=-5140.77;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1432T>A;refseq.codonCoord=478;refseq.end=151571933;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1452;refseq.name=NM_018558;refseq.name2=GABRQ;refseq.positionType=CDS;refseq.proteinCoordStr=p.F478I;refseq.referenceAA=Phe;refseq.referenceCodon=TTT;refseq.spliceDist=274;refseq.start=151571933;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATT;set=Intersection GT 1/0 chrX 151620748 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.782T>G;refseq.codingCoordStr_2=c.782T>G;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.end_1=151620748;refseq.end_2=151620748;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=976;refseq.mrnaCoord_2=1040;refseq.name2_1=MAGEA6;refseq.name2_2=MAGEA6;refseq.name_1=NM_005363;refseq.name_2=NM_175868;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V261G;refseq.proteinCoordStr_2=p.V261G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=-723;refseq.spliceDist_2=-723;refseq.start_1=151620748;refseq.start_2=151620748;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;set=FilteredInAll GT 1/0 chrX 151628064 rs1894362 C T 47.14 ESPStandard;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=484;Dels=0.00;HRun=0;HaplotypeScore=17.21;MQ=1.56;MQ0=480;QD=0.10;SB=-49.56;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.187G>A;refseq.codingCoordStr_2=c.187G>A;refseq.codingCoordStr_3=c.187G>A;refseq.codingCoordStr_4=c.187G>A;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.codonCoord_3=63;refseq.codonCoord_4=63;refseq.end_1=151628064;refseq.end_2=151628064;refseq.end_3=151628064;refseq.end_4=151628064;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=340;refseq.mrnaCoord_2=263;refseq.mrnaCoord_3=340;refseq.mrnaCoord_4=340;refseq.name2_1=CSAG2;refseq.name2_2=CSAG3;refseq.name2_3=CSAG3;refseq.name2_4=CSAG2;refseq.name_1=NM_001080848;refseq.name_2=NM_001129826;refseq.name_3=NM_001129828;refseq.name_4=NM_004909;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A63T;refseq.proteinCoordStr_2=p.A63T;refseq.proteinCoordStr_3=p.A63T;refseq.proteinCoordStr_4=p.A63T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.spliceDist_3=-77;refseq.spliceDist_4=-77;refseq.start_1=151628064;refseq.start_2=151628064;refseq.start_3=151628064;refseq.start_4=151628064;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:380,102:2:-8.12,-0.60,-0.00:6.02 chrX 151636679 . G T 21 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.539394;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.428G>T;refseq.codingCoordStr_2=c.428G>T;refseq.codingCoordStr_3=c.428G>T;refseq.codingCoordStr_4=c.428G>T;refseq.codonCoord_1=143;refseq.codonCoord_2=143;refseq.codonCoord_3=143;refseq.codonCoord_4=143;refseq.end_1=151636679;refseq.end_2=151636679;refseq.end_3=151636679;refseq.end_4=151636679;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=907;refseq.mrnaCoord_2=560;refseq.mrnaCoord_3=893;refseq.mrnaCoord_4=909;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.C143F;refseq.proteinCoordStr_2=p.C143F;refseq.proteinCoordStr_3=p.C143F;refseq.proteinCoordStr_4=p.C143F;refseq.referenceAA_1=Cys;refseq.referenceAA_2=Cys;refseq.referenceAA_3=Cys;refseq.referenceAA_4=Cys;refseq.referenceCodon_1=TGC;refseq.referenceCodon_2=TGC;refseq.referenceCodon_3=TGC;refseq.referenceCodon_4=TGC;refseq.spliceDist_1=493;refseq.spliceDist_2=493;refseq.spliceDist_3=493;refseq.spliceDist_4=493;refseq.start_1=151636679;refseq.start_2=151636679;refseq.start_3=151636679;refseq.start_4=151636679;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantAA_3=Phe;refseq.variantAA_4=Phe;refseq.variantCodon_1=TTC;refseq.variantCodon_2=TTC;refseq.variantCodon_3=TTC;refseq.variantCodon_4=TTC;set=soap GT 0/1 chrX 151636695 . C T 27 PASS AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.539394;SecondBestBaseQ=34;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.444C>T;refseq.codingCoordStr_2=c.444C>T;refseq.codingCoordStr_3=c.444C>T;refseq.codingCoordStr_4=c.444C>T;refseq.codonCoord_1=148;refseq.codonCoord_2=148;refseq.codonCoord_3=148;refseq.codonCoord_4=148;refseq.end_1=151636695;refseq.end_2=151636695;refseq.end_3=151636695;refseq.end_4=151636695;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeAlternate_3=T;refseq.haplotypeAlternate_4=T;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=923;refseq.mrnaCoord_2=576;refseq.mrnaCoord_3=909;refseq.mrnaCoord_4=925;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P148P;refseq.proteinCoordStr_2=p.P148P;refseq.proteinCoordStr_3=p.P148P;refseq.proteinCoordStr_4=p.P148P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=509;refseq.spliceDist_2=509;refseq.spliceDist_3=509;refseq.spliceDist_4=509;refseq.start_1=151636695;refseq.start_2=151636695;refseq.start_3=151636695;refseq.start_4=151636695;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCT;refseq.variantCodon_2=CCT;refseq.variantCodon_3=CCT;refseq.variantCodon_4=CCT;set=soap GT 0/1 chrX 151636763 . C G 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=0;RankSumP=0.563467;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.512C>G;refseq.codingCoordStr_2=c.512C>G;refseq.codingCoordStr_3=c.512C>G;refseq.codingCoordStr_4=c.512C>G;refseq.codonCoord_1=171;refseq.codonCoord_2=171;refseq.codonCoord_3=171;refseq.codonCoord_4=171;refseq.end_1=151636763;refseq.end_2=151636763;refseq.end_3=151636763;refseq.end_4=151636763;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=991;refseq.mrnaCoord_2=644;refseq.mrnaCoord_3=977;refseq.mrnaCoord_4=993;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P171R;refseq.proteinCoordStr_2=p.P171R;refseq.proteinCoordStr_3=p.P171R;refseq.proteinCoordStr_4=p.P171R;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=577;refseq.spliceDist_2=577;refseq.spliceDist_3=577;refseq.spliceDist_4=577;refseq.start_1=151636763;refseq.start_2=151636763;refseq.start_3=151636763;refseq.start_4=151636763;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantAA_3=Arg;refseq.variantAA_4=Arg;refseq.variantCodon_1=CGC;refseq.variantCodon_2=CGC;refseq.variantCodon_3=CGC;refseq.variantCodon_4=CGC;set=FilteredInAll GT 1/0 chrX 151636768 . A G 16 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=1;RankSumP=0.684082;SecondBestBaseQ=26;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.517A>G;refseq.codingCoordStr_2=c.517A>G;refseq.codingCoordStr_3=c.517A>G;refseq.codingCoordStr_4=c.517A>G;refseq.codonCoord_1=173;refseq.codonCoord_2=173;refseq.codonCoord_3=173;refseq.codonCoord_4=173;refseq.end_1=151636768;refseq.end_2=151636768;refseq.end_3=151636768;refseq.end_4=151636768;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=996;refseq.mrnaCoord_2=649;refseq.mrnaCoord_3=982;refseq.mrnaCoord_4=998;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.S173G;refseq.proteinCoordStr_2=p.S173G;refseq.proteinCoordStr_3=p.S173G;refseq.proteinCoordStr_4=p.S173G;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceAA_4=Ser;refseq.referenceCodon_1=AGC;refseq.referenceCodon_2=AGC;refseq.referenceCodon_3=AGC;refseq.referenceCodon_4=AGC;refseq.spliceDist_1=582;refseq.spliceDist_2=582;refseq.spliceDist_3=582;refseq.spliceDist_4=582;refseq.start_1=151636768;refseq.start_2=151636768;refseq.start_3=151636768;refseq.start_4=151636768;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantAA_4=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;refseq.variantCodon_4=GGC;set=FilteredInAll GT 0/1 chrX 151636834 . G A 1 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.583G>A;refseq.codingCoordStr_2=c.583G>A;refseq.codingCoordStr_3=c.583G>A;refseq.codingCoordStr_4=c.583G>A;refseq.codonCoord_1=195;refseq.codonCoord_2=195;refseq.codonCoord_3=195;refseq.codonCoord_4=195;refseq.end_1=151636834;refseq.end_2=151636834;refseq.end_3=151636834;refseq.end_4=151636834;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1062;refseq.mrnaCoord_2=715;refseq.mrnaCoord_3=1048;refseq.mrnaCoord_4=1064;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.V195I;refseq.proteinCoordStr_2=p.V195I;refseq.proteinCoordStr_3=p.V195I;refseq.proteinCoordStr_4=p.V195I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceAA_4=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.referenceCodon_4=GTC;refseq.spliceDist_1=648;refseq.spliceDist_2=648;refseq.spliceDist_3=648;refseq.spliceDist_4=648;refseq.start_1=151636834;refseq.start_2=151636834;refseq.start_3=151636834;refseq.start_4=151636834;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantAA_3=Ile;refseq.variantAA_4=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;refseq.variantCodon_3=ATC;refseq.variantCodon_4=ATC;set=FilteredInAll GT 1/0 chrX 151636837 . A G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=0;RankSumP=0.333333;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.586A>G;refseq.codingCoordStr_2=c.586A>G;refseq.codingCoordStr_3=c.586A>G;refseq.codingCoordStr_4=c.586A>G;refseq.codonCoord_1=196;refseq.codonCoord_2=196;refseq.codonCoord_3=196;refseq.codonCoord_4=196;refseq.end_1=151636837;refseq.end_2=151636837;refseq.end_3=151636837;refseq.end_4=151636837;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeAlternate_4=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.haplotypeReference_4=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1065;refseq.mrnaCoord_2=718;refseq.mrnaCoord_3=1051;refseq.mrnaCoord_4=1067;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.M196V;refseq.proteinCoordStr_2=p.M196V;refseq.proteinCoordStr_3=p.M196V;refseq.proteinCoordStr_4=p.M196V;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceAA_3=Met;refseq.referenceAA_4=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.referenceCodon_3=ATG;refseq.referenceCodon_4=ATG;refseq.spliceDist_1=651;refseq.spliceDist_2=651;refseq.spliceDist_3=651;refseq.spliceDist_4=651;refseq.start_1=151636837;refseq.start_2=151636837;refseq.start_3=151636837;refseq.start_4=151636837;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantAA_4=Val;refseq.variantCodon_1=GTG;refseq.variantCodon_2=GTG;refseq.variantCodon_3=GTG;refseq.variantCodon_4=GTG;set=FilteredInAll GT 0/1 chrX 151636883 . T A 9 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=34;HRun=2;RankSumP=0.666667;SecondBestBaseQ=34;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.632T>A;refseq.codingCoordStr_2=c.632T>A;refseq.codingCoordStr_3=c.632T>A;refseq.codingCoordStr_4=c.632T>A;refseq.codonCoord_1=211;refseq.codonCoord_2=211;refseq.codonCoord_3=211;refseq.codonCoord_4=211;refseq.end_1=151636883;refseq.end_2=151636883;refseq.end_3=151636883;refseq.end_4=151636883;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.frame_4=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.haplotypeReference_4=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=1111;refseq.mrnaCoord_2=764;refseq.mrnaCoord_3=1097;refseq.mrnaCoord_4=1113;refseq.name2_1=MAGEA2;refseq.name2_2=MAGEA2B;refseq.name2_3=MAGEA2;refseq.name2_4=MAGEA2;refseq.name_1=NM_005361;refseq.name_2=NM_153488;refseq.name_3=NM_175742;refseq.name_4=NM_175743;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.I211K;refseq.proteinCoordStr_2=p.I211K;refseq.proteinCoordStr_3=p.I211K;refseq.proteinCoordStr_4=p.I211K;refseq.referenceAA_1=Ile;refseq.referenceAA_2=Ile;refseq.referenceAA_3=Ile;refseq.referenceAA_4=Ile;refseq.referenceCodon_1=ATA;refseq.referenceCodon_2=ATA;refseq.referenceCodon_3=ATA;refseq.referenceCodon_4=ATA;refseq.spliceDist_1=697;refseq.spliceDist_2=697;refseq.spliceDist_3=697;refseq.spliceDist_4=697;refseq.start_1=151636883;refseq.start_2=151636883;refseq.start_3=151636883;refseq.start_4=151636883;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Lys;refseq.variantAA_2=Lys;refseq.variantAA_3=Lys;refseq.variantAA_4=Lys;refseq.variantCodon_1=AAA;refseq.variantCodon_2=AAA;refseq.variantCodon_3=AAA;refseq.variantCodon_4=AAA;set=FilteredInAll GT 1/0 chrX 151650569 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=683;Dels=0.00;HRun=2;HaplotypeScore=16.19;MQ=87.00;MQ0=3;OQ=14135.63;QD=20.70;RankSumP=9.70248e-05;SB=-5723.23;SecondBestBaseQ=31;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.888A>G;refseq.codingCoordStr_2=c.888A>G;refseq.codingCoordStr_3=c.888A>G;refseq.codonCoord_1=296;refseq.codonCoord_2=296;refseq.codonCoord_3=296;refseq.end_1=151650569;refseq.end_2=151650569;refseq.end_3=151650569;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1242;refseq.mrnaCoord_2=1150;refseq.mrnaCoord_3=1044;refseq.name2_1=MAGEA12;refseq.name2_2=MAGEA12;refseq.name2_3=MAGEA12;refseq.name_1=NM_001166386;refseq.name_2=NM_001166387;refseq.name_3=NM_005367;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.G296G;refseq.proteinCoordStr_2=p.G296G;refseq.proteinCoordStr_3=p.G296G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceAA_3=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.referenceCodon_3=GGA;refseq.spliceDist_1=-618;refseq.spliceDist_2=-618;refseq.spliceDist_3=-618;refseq.start_1=151650569;refseq.start_2=151650569;refseq.start_3=151650569;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=filterInsoap-gatk GT 1/0 chrX 151650675 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=0.00000;SecondBestBaseQ=10;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.782T>G;refseq.codingCoordStr_2=c.782T>G;refseq.codingCoordStr_3=c.782T>G;refseq.codonCoord_1=261;refseq.codonCoord_2=261;refseq.codonCoord_3=261;refseq.end_1=151650675;refseq.end_2=151650675;refseq.end_3=151650675;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1136;refseq.mrnaCoord_2=1044;refseq.mrnaCoord_3=938;refseq.name2_1=MAGEA12;refseq.name2_2=MAGEA12;refseq.name2_3=MAGEA12;refseq.name_1=NM_001166386;refseq.name_2=NM_001166387;refseq.name_3=NM_005367;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V261G;refseq.proteinCoordStr_2=p.V261G;refseq.proteinCoordStr_3=p.V261G;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=-724;refseq.spliceDist_2=-724;refseq.spliceDist_3=-724;refseq.start_1=151650675;refseq.start_2=151650675;refseq.start_3=151650675;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_1=GGC;refseq.variantCodon_2=GGC;refseq.variantCodon_3=GGC;set=FilteredInAll GT 0/1 chrX 151659812 . A G 256.51 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=219;Dels=0.00;HRun=0;HaplotypeScore=12.61;MQ=90.92;MQ0=0;OQ=4604.70;QD=21.03;RankSumP=0.290149;SB=-1265.49;SecondBestBaseQ=33;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.185A>G;refseq.codingCoordStr_2=c.185A>G;refseq.codonCoord_1=62;refseq.codonCoord_2=62;refseq.end_1=151659812;refseq.end_2=151659812;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=297;refseq.mrnaCoord_2=513;refseq.name2_1=CSAG1;refseq.name2_2=CSAG1;refseq.name_1=NM_001102576;refseq.name_2=NM_153478;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K62R;refseq.proteinCoordStr_2=p.K62R;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAA;refseq.referenceCodon_2=AAA;refseq.spliceDist_1=18;refseq.spliceDist_2=18;refseq.start_1=151659812;refseq.start_2=151659812;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 0/1 chrX 151678729 rs1894362 G A 0.02 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=513;Dels=0.00;HRun=0;HaplotypeScore=29.57;MQ=2.17;MQ0=510;OQ=77.89;QD=0.15;SB=-49.67;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.changesAA_4=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.187G>A;refseq.codingCoordStr_2=c.187G>A;refseq.codingCoordStr_3=c.187G>A;refseq.codingCoordStr_4=c.187G>A;refseq.codonCoord_1=63;refseq.codonCoord_2=63;refseq.codonCoord_3=63;refseq.codonCoord_4=63;refseq.end_1=151678729;refseq.end_2=151678729;refseq.end_3=151678729;refseq.end_4=151678729;refseq.frame_1=0;refseq.frame_2=0;refseq.frame_3=0;refseq.frame_4=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.functionalClass_4=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=340;refseq.mrnaCoord_2=263;refseq.mrnaCoord_3=340;refseq.mrnaCoord_4=340;refseq.name2_1=CSAG2;refseq.name2_2=CSAG3;refseq.name2_3=CSAG3;refseq.name2_4=CSAG2;refseq.name_1=NM_001080848;refseq.name_2=NM_001129826;refseq.name_3=NM_001129828;refseq.name_4=NM_004909;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.A63T;refseq.proteinCoordStr_2=p.A63T;refseq.proteinCoordStr_3=p.A63T;refseq.proteinCoordStr_4=p.A63T;refseq.referenceAA_1=Ala;refseq.referenceAA_2=Ala;refseq.referenceAA_3=Ala;refseq.referenceAA_4=Ala;refseq.referenceCodon_1=GCT;refseq.referenceCodon_2=GCT;refseq.referenceCodon_3=GCT;refseq.referenceCodon_4=GCT;refseq.spliceDist_1=-128;refseq.spliceDist_2=-128;refseq.spliceDist_3=-77;refseq.spliceDist_4=-77;refseq.start_1=151678729;refseq.start_2=151678729;refseq.start_3=151678729;refseq.start_4=151678729;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=FilteredInAll GT:AD:DP:GL:GQ 1/1:420,92:3:-11.28,-0.90,-0.00:9.03 chrX 151686041 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=30;HRun=2;RankSumP=0.00000;SecondBestBaseQ=9;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.782T>G;refseq.codonCoord=261;refseq.end=151686041;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=991;refseq.name=NM_005362;refseq.name2=MAGEA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V261G;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-734;refseq.start=151686041;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 0/1 chrX 151747055 . T G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=10;DP=408;Dels=0.00;HRun=2;HaplotypeScore=31.74;MQ=97.89;MQ0=0;OQ=105.42;QD=0.26;RankSumP=0.00000;SB=399.19;SecondBestBaseQ=26;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.505A>C;refseq.codonCoord=169;refseq.end=151747055;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=552;refseq.name=NM_004344;refseq.name2=CETN2;refseq.positionType=CDS;refseq.proteinCoordStr=p.T169P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=76;refseq.start=151747055;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 1/0 chrX 151769488 . T G 164.99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=228;Dels=0.00;HRun=2;HaplotypeScore=5.21;MQ=98.60;MQ0=0;OQ=4263.32;QD=18.70;RankSumP=0.237106;SB=-1621.67;SecondBestBaseQ=33;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.132T>G;refseq.codingCoordStr_2=c.132T>G;refseq.codonCoord_1=44;refseq.codonCoord_2=44;refseq.end_1=151769488;refseq.end_2=151769488;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=393;refseq.mrnaCoord_2=326;refseq.name2_1=NSDHL;refseq.name2_2=NSDHL;refseq.name_1=NM_001129765;refseq.name_2=NM_015922;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G44G;refseq.proteinCoordStr_2=p.G44G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGT;refseq.referenceCodon_2=GGT;refseq.spliceDist_1=24;refseq.spliceDist_2=24;refseq.start_1=151769488;refseq.start_2=151769488;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/0 chrX 151788240 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=5;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1046A>C;refseq.codingCoordStr_2=c.1046A>C;refseq.codonCoord_1=349;refseq.codonCoord_2=349;refseq.end_1=151788240;refseq.end_2=151788240;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1307;refseq.mrnaCoord_2=1240;refseq.name2_1=NSDHL;refseq.name2_2=NSDHL;refseq.name_1=NM_001129765;refseq.name_2=NM_015922;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.Y349S;refseq.proteinCoordStr_2=p.Y349S;refseq.referenceAA_1=Tyr;refseq.referenceAA_2=Tyr;refseq.referenceCodon_1=TAC;refseq.referenceCodon_2=TAC;refseq.spliceDist_1=257;refseq.spliceDist_2=257;refseq.start_1=151788240;refseq.start_2=151788240;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantCodon_1=TCC;refseq.variantCodon_2=TCC;set=FilteredInAll GT 0/1 chrX 151909635 . T C 152.03 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=366;Dels=0.00;HRun=0;HaplotypeScore=17.69;MQ=98.27;MQ0=0;OQ=6457.90;QD=17.64;RankSumP=0.293576;SB=-2390.80;SecondBestBaseQ=32;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.1164A>G;refseq.codingCoordStr_2=c.1164A>G;refseq.codingCoordStr_3=c.1164A>G;refseq.codonCoord_1=388;refseq.codonCoord_2=388;refseq.codonCoord_3=388;refseq.end_1=151909635;refseq.end_2=151909635;refseq.end_3=151909635;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=1603;refseq.mrnaCoord_2=1503;refseq.mrnaCoord_3=1589;refseq.name2_1=PNMA5;refseq.name2_2=PNMA5;refseq.name2_3=PNMA5;refseq.name_1=NM_001103150;refseq.name_2=NM_001103151;refseq.name_3=NM_052926;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.P388P;refseq.proteinCoordStr_2=p.P388P;refseq.proteinCoordStr_3=p.P388P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceCodon_1=CCA;refseq.referenceCodon_2=CCA;refseq.referenceCodon_3=CCA;refseq.spliceDist_1=1287;refseq.spliceDist_2=1287;refseq.spliceDist_3=1287;refseq.start_1=151909635;refseq.start_2=151909635;refseq.start_3=151909635;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;set=Intersection GT 1/0 chrX 151976655 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=33;HRun=2;RankSumP=0.00000;SecondBestBaseQ=20;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.587T>G;refseq.codonCoord=196;refseq.end=151976655;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=923;refseq.name=NM_013364;refseq.name2=PNMA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V196G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=693;refseq.start=151976655;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 151976657 . C G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.589C>G;refseq.codonCoord=197;refseq.end=151976657;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=925;refseq.name=NM_013364;refseq.name2=PNMA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.P197A;refseq.referenceAA=Pro;refseq.referenceCodon=CCC;refseq.spliceDist=695;refseq.start=151976657;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCC;set=FilteredInAll GT 1/0 chrX 151977198 . T C 301.90 PASS AC=2;AF=1.00;AN=2;BestBaseQ=33;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=96.79;MQ0=0;OQ=1027.06;QD=34.24;RankSumP=1.00000;SB=-539.55;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1130T>C;refseq.codonCoord=377;refseq.end=151977198;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1466;refseq.name=NM_013364;refseq.name2=PNMA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.V377A;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=1236;refseq.start=151977198;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/1 chrX 152135444 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.761T>G;refseq.codonCoord=254;refseq.end=152135444;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=981;refseq.name=NM_004988;refseq.name2=MAGEA1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V254G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-729;refseq.start=152135444;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 152374922 . T C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=28;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=14.87;MQ=98.45;MQ0=0;OQ=1762.77;QD=8.39;RankSumP=0.0291804;SB=-317.21;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.730A>G;refseq.codonCoord=244;refseq.end=152374922;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=1288;refseq.name=NM_017518;refseq.name2=HAUS7;refseq.positionType=CDS;refseq.proteinCoordStr=p.T244A;refseq.referenceAA=Thr;refseq.referenceCodon=ACG;refseq.spliceDist=-6;refseq.spliceInfo=splice-donor_-6;refseq.start=152374922;refseq.transcriptStrand=-;refseq.variantAA=Ala;refseq.variantCodon=GCG;set=Intersection GT 1/0 chrX 152423424 . G A 310.93 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DB;DP=310;Dels=0.00;HRun=0;HaplotypeScore=13.71;MQ=98.55;MQ0=0;OQ=6450.26;QD=20.81;RankSumP=0.310882;SB=-2377.45;SecondBestBaseQ=31;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.141G>A;refseq.codonCoord=47;refseq.end=152423424;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=377;refseq.name=NM_001711;refseq.name2=BGN;refseq.positionType=CDS;refseq.proteinCoordStr=p.S47S;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=-98;refseq.start=152423424;refseq.transcriptStrand=+;refseq.variantAA=Ser;refseq.variantCodon=TCA;set=Intersection GT 1/0 chrX 152468283 . A G 99 PASS AC=2;AF=1.00;AN=2;BestBaseQ=31;DB;DP=144;Dels=0.00;HRun=2;HaplotypeScore=5.24;MQ=97.91;MQ0=0;OQ=5388.63;QD=37.42;RankSumP=1.00000;SB=-2310.89;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1473A>G;refseq.codingCoordStr_2=c.1473A>G;refseq.codonCoord_1=491;refseq.codonCoord_2=491;refseq.end_1=152468283;refseq.end_2=152468283;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1599;refseq.mrnaCoord_2=1599;refseq.name2_1=ATP2B3;refseq.name2_2=ATP2B3;refseq.name_1=NM_001001344;refseq.name_2=NM_021949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.G491G;refseq.proteinCoordStr_2=p.G491G;refseq.referenceAA_1=Gly;refseq.referenceAA_2=Gly;refseq.referenceCodon_1=GGA;refseq.referenceCodon_2=GGA;refseq.spliceDist_1=-109;refseq.spliceDist_2=-109;refseq.start_1=152468283;refseq.start_2=152468283;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG;set=Intersection GT 1/1 chrX 152476922 . G C 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=23;DB;DP=752;Dels=0.00;HRun=0;HaplotypeScore=26.88;MQ=98.62;MQ0=0;OQ=13310.38;QD=17.70;RankSumP=0.421349;SB=-3944.68;SecondBestBaseQ=26;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.2592G>C;refseq.codingCoordStr_2=c.2592G>C;refseq.codonCoord_1=864;refseq.codonCoord_2=864;refseq.end_1=152476922;refseq.end_2=152476922;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2718;refseq.mrnaCoord_2=2718;refseq.name2_1=ATP2B3;refseq.name2_2=ATP2B3;refseq.name_1=NM_001001344;refseq.name_2=NM_021949;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V864V;refseq.proteinCoordStr_2=p.V864V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTG;refseq.referenceCodon_2=GTG;refseq.spliceDist_1=-34;refseq.spliceDist_2=-34;refseq.start_1=152476922;refseq.start_2=152476922;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=Intersection GT 0/1 chrX 152589149 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=2;RankSumP=1.99228e-06;SecondBestBaseQ=17;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1238A>C;refseq.codingCoordStr_2=c.1040A>C;refseq.codonCoord_1=413;refseq.codonCoord_2=347;refseq.end_1=152589149;refseq.end_2=152589149;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1424;refseq.mrnaCoord_2=1058;refseq.name2_1=PNCK;refseq.name2_2=PNCK;refseq.name_1=NM_001039582;refseq.name_2=NM_001135740;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H413P;refseq.proteinCoordStr_2=p.H347P;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAC;refseq.referenceCodon_2=CAC;refseq.spliceDist_1=-51;refseq.spliceDist_2=-51;refseq.start_1=152589149;refseq.start_2=152589149;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantCodon_1=CCC;refseq.variantCodon_2=CCC;set=FilteredInAll GT 1/0 chrX 152659331 . G A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DP=155;Dels=0.00;HRun=0;HaplotypeScore=5.39;MQ=71.48;MQ0=9;OQ=248.71;QD=1.60;RankSumP=0.454291;SB=-69.58;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1744G>A;refseq.codonCoord=582;refseq.end=152659331;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2143;refseq.name=NM_000033;refseq.name2=ABCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V582I;refseq.referenceAA=Val;refseq.referenceCodon=GTC;refseq.spliceDist=-37;refseq.start=152659331;refseq.transcriptStrand=+;refseq.variantAA=Ile;refseq.variantCodon=ATC;set=soap-filterIngatk GT 1/0 chrX 152659335 . T A 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;DP=160;Dels=0.00;HRun=0;HaplotypeScore=6.18;MQ=70.33;MQ0=11;OQ=233.87;QD=1.46;RankSumP=0.322614;SB=-60.20;SecondBestBaseQ=33;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1748T>A;refseq.codonCoord=583;refseq.end=152659335;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2147;refseq.name=NM_000033;refseq.name2=ABCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.V583E;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=-33;refseq.start=152659335;refseq.transcriptStrand=+;refseq.variantAA=Glu;refseq.variantCodon=GAG;set=soap-filterIngatk GT 1/0 chrX 152661670 . T C 94 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=1;RankSumP=0.653319;SecondBestBaseQ=30;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1816T>C;refseq.codonCoord=606;refseq.end=152661670;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2215;refseq.name=NM_000033;refseq.name2=ABCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.S606P;refseq.referenceAA=Ser;refseq.referenceCodon=TCG;refseq.spliceDist=36;refseq.start=152661670;refseq.transcriptStrand=+;refseq.variantAA=Pro;refseq.variantCodon=CCG;set=soap GT 1/0 chrX 152661677 . G A 88 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=0;RankSumP=0.419143;SecondBestBaseQ=29;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1823G>A;refseq.codonCoord=608;refseq.end=152661677;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=2222;refseq.name=NM_000033;refseq.name2=ABCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G608D;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-43;refseq.start=152661677;refseq.transcriptStrand=+;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=soap GT 1/0 chrX 152662164 . C T 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=30;DP=114;Dels=0.00;HRun=2;HaplotypeScore=4.20;MQ=73.75;MQ0=4;OQ=1581.15;QD=13.87;RankSumP=0.185049;SB=-688.10;SecondBestBaseQ=30;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2019C>T;refseq.codonCoord=673;refseq.end=152662164;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=T;refseq.haplotypeReference=C;refseq.inCodingRegion=true;refseq.mrnaCoord=2418;refseq.name=NM_000033;refseq.name2=ABCD1;refseq.positionType=CDS;refseq.proteinCoordStr=p.F673F;refseq.referenceAA=Phe;refseq.referenceCodon=TTC;refseq.spliceDist=28;refseq.start=152662164;refseq.transcriptStrand=+;refseq.variantAA=Phe;refseq.variantCodon=TTT;set=Intersection GT 0/1 chrX 152685691 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=2;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.284A>C;refseq.codingCoordStr_2=c.215A>C;refseq.codonCoord_1=95;refseq.codonCoord_2=72;refseq.end_1=152685691;refseq.end_2=152685691;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=555;refseq.mrnaCoord_2=389;refseq.name2_1=PLXNB3;refseq.name2_2=PLXNB3;refseq.name_1=NM_001163257;refseq.name_2=NM_005393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.N95T;refseq.proteinCoordStr_2=p.N72T;refseq.referenceAA_1=Asn;refseq.referenceAA_2=Asn;refseq.referenceCodon_1=AAC;refseq.referenceCodon_2=AAC;refseq.spliceDist_1=170;refseq.spliceDist_2=170;refseq.start_1=152685691;refseq.start_2=152685691;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACC;refseq.variantCodon_2=ACC;set=FilteredInAll GT 0/1 chrX 152688992 . G A 180.97 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=98.62;MQ0=0;OQ=4370.28;QD=38.00;RankSumP=1.00000;SB=-1041.90;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1861G>A;refseq.codingCoordStr_2=c.1792G>A;refseq.codonCoord_1=621;refseq.codonCoord_2=598;refseq.end_1=152688992;refseq.end_2=152688992;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=2132;refseq.mrnaCoord_2=1966;refseq.name2_1=PLXNB3;refseq.name2_2=PLXNB3;refseq.name_1=NM_001163257;refseq.name_2=NM_005393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V621I;refseq.proteinCoordStr_2=p.V598I;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.spliceDist_1=6;refseq.spliceDist_2=6;refseq.spliceInfo_1=splice-acceptor_6;refseq.spliceInfo_2=splice-acceptor_6;refseq.start_1=152688992;refseq.start_2=152688992;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Ile;refseq.variantAA_2=Ile;refseq.variantCodon_1=ATC;refseq.variantCodon_2=ATC;set=Intersection GT 1/1 chrX 152692696 . G C 28 PASS AC=2;AF=1.00;AN=2;BestBaseQ=24;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=95.63;MQ0=0;OQ=1183.99;QD=28.19;RankSumP=1.00000;SB=-597.08;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.3537G>C;refseq.codingCoordStr_2=c.3468G>C;refseq.codonCoord_1=1179;refseq.codonCoord_2=1156;refseq.end_1=152692696;refseq.end_2=152692696;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=3808;refseq.mrnaCoord_2=3642;refseq.name2_1=PLXNB3;refseq.name2_2=PLXNB3;refseq.name_1=NM_001163257;refseq.name_2=NM_005393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.E1179D;refseq.proteinCoordStr_2=p.E1156D;refseq.referenceAA_1=Glu;refseq.referenceAA_2=Glu;refseq.referenceCodon_1=GAG;refseq.referenceCodon_2=GAG;refseq.spliceDist_1=-52;refseq.spliceDist_2=-52;refseq.start_1=152692696;refseq.start_2=152692696;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Asp;refseq.variantAA_2=Asp;refseq.variantCodon_1=GAC;refseq.variantCodon_2=GAC;set=Intersection GT 1/1 chrX 152694738 . T C 61.54 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=98.16;MQ0=0;OQ=828.05;QD=29.57;RankSumP=1.00000;SB=-292.66;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.4673T>C;refseq.codingCoordStr_2=c.4604T>C;refseq.codonCoord_1=1558;refseq.codonCoord_2=1535;refseq.end_1=152694738;refseq.end_2=152694738;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=4944;refseq.mrnaCoord_2=4778;refseq.name2_1=PLXNB3;refseq.name2_2=PLXNB3;refseq.name_1=NM_001163257;refseq.name_2=NM_005393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.M1558T;refseq.proteinCoordStr_2=p.M1535T;refseq.referenceAA_1=Met;refseq.referenceAA_2=Met;refseq.referenceCodon_1=ATG;refseq.referenceCodon_2=ATG;refseq.spliceDist_1=-126;refseq.spliceDist_2=-126;refseq.start_1=152694738;refseq.start_2=152694738;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACG;refseq.variantCodon_2=ACG;set=Intersection GT 1/1 chrX 152695613 . G A 181.14 PASS AC=2;AF=1.00;AN=2;BestBaseQ=29;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=98.80;MQ0=0;OQ=1738.52;QD=33.43;RankSumP=1.00000;SB=-378.01;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.4980G>A;refseq.codingCoordStr_2=c.4911G>A;refseq.codonCoord_1=1660;refseq.codonCoord_2=1637;refseq.end_1=152695613;refseq.end_2=152695613;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=5251;refseq.mrnaCoord_2=5085;refseq.name2_1=PLXNB3;refseq.name2_2=PLXNB3;refseq.name_1=NM_001163257;refseq.name_2=NM_005393;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.R1660R;refseq.proteinCoordStr_2=p.R1637R;refseq.referenceAA_1=Arg;refseq.referenceAA_2=Arg;refseq.referenceCodon_1=AGG;refseq.referenceCodon_2=AGG;refseq.spliceDist_1=-17;refseq.spliceDist_2=-17;refseq.start_1=152695613;refseq.start_2=152695613;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Arg;refseq.variantAA_2=Arg;refseq.variantCodon_1=AGA;refseq.variantCodon_2=AGA;set=Intersection GT 1/1 chrX 152802902 . G C 5 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=12;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;set=FilteredInAll GT 1/1 chrX 152802909 . C G 1911.16 BadSOAPSNP;Indel AC=2;AF=1.00;AN=2;BestBaseQ=12;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=87.85;MQ0=0;QD=45.50;RankSumP=1.00000;SB=-541.16;SecondBestBaseQ=0;set=FilteredInAll GT 1/1 chrX 152804474 . G C 10.99 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=80.00;MQ0=0;QD=10.99;SB=-10.00;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:0,1:1:-4.35,-0.30,-0.00:1.76 chrX 152824306 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=0.500137;SecondBestBaseQ=10;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_2=c.152T>G;refseq.codingCoordStr_3=c.152T>G;refseq.codonCoord_2=51;refseq.codonCoord_3=51;refseq.end_1=152824656;refseq.end_2=152824306;refseq.end_3=152824306;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=T;refseq.haplotypeReference_3=T;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=223;refseq.mrnaCoord_3=223;refseq.name2_1=AVPR2;refseq.name2_2=AVPR2;refseq.name2_3=AVPR2;refseq.name_1=NR_027419;refseq.name_2=NM_000054;refseq.name_3=NM_001146151;refseq.numMatchingRecords=3;refseq.positionType_1=non_coding_intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.V51G;refseq.proteinCoordStr_3=p.V51G;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_2=GTG;refseq.referenceCodon_3=GTG;refseq.spliceDist_2=127;refseq.spliceDist_3=127;refseq.start_1=152823829;refseq.start_2=152824306;refseq.start_3=152824306;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.variantAA_2=Gly;refseq.variantAA_3=Gly;refseq.variantCodon_2=GGG;refseq.variantCodon_3=GGG;set=FilteredInAll GT 1/0 chrX 152829448 . A G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=29;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=8.10;MQ=98.33;MQ0=0;OQ=784.40;QD=10.46;RankSumP=0.330186;SB=-360.25;SecondBestBaseQ=28;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1836T>C;refseq.codingCoordStr_2=c.1716T>C;refseq.codonCoord_1=612;refseq.codonCoord_2=572;refseq.end_1=152829448;refseq.end_2=152829448;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1894;refseq.mrnaCoord_2=1774;refseq.name2_1=ARHGAP4;refseq.name2_2=ARHGAP4;refseq.name_1=NM_001164741;refseq.name_2=NM_001666;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.H612H;refseq.proteinCoordStr_2=p.H572H;refseq.referenceAA_1=His;refseq.referenceAA_2=His;refseq.referenceCodon_1=CAT;refseq.referenceCodon_2=CAT;refseq.spliceDist_1=35;refseq.spliceDist_2=35;refseq.start_1=152829448;refseq.start_2=152829448;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=His;refseq.variantAA_2=His;refseq.variantCodon_1=CAC;refseq.variantCodon_2=CAC;set=Intersection GT 0/1 chrX 152869033 . G A 135.01 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=98.47;MQ0=0;OQ=2874.82;QD=31.94;RankSumP=1.00000;SB=-803.32;SecondBestBaseQ=2;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.5859C>T;refseq.codonCoord=1953;refseq.end=152869033;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=6387;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.C1953C;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=-146;refseq.start=152869033;refseq.transcriptStrand=-;refseq.variantAA=Cys;refseq.variantCodon=TGT;set=Intersection GT 1/1 chrX 152871464 . G T 10.76 ESPStandard;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;QD=0.90;SB=-25.31;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.4637C>A;refseq.codonCoord=1546;refseq.end=152871464;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=T;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=5165;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.A1546D;refseq.referenceAA=Ala;refseq.referenceCodon=GCC;refseq.spliceDist=140;refseq.start=152871464;refseq.transcriptStrand=-;refseq.variantAA=Asp;refseq.variantCodon=GAC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:10,2:12:-7.94,-3.61,-39.70:43.22 chrX 152873617 . T G 36 PASS AC=1;AF=0.50;AN=2;BestBaseQ=26;HRun=4;RankSumP=0.500076;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.3427A>C;refseq.codonCoord=1143;refseq.end=152873617;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=3955;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.T1143P;refseq.referenceAA=Thr;refseq.referenceCodon=ACC;refseq.spliceDist=571;refseq.start=152873617;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=soap GT 1/0 chrX 152874866 . G C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=27;HRun=3;RankSumP=0.00000;SecondBestBaseQ=6;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.2826C>G;refseq.codonCoord=942;refseq.end=152874866;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=3354;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.G942G;refseq.referenceAA=Gly;refseq.referenceCodon=GGC;refseq.spliceDist=-31;refseq.start=152874866;refseq.transcriptStrand=-;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 0/1 chrX 152876887 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=3;RankSumP=0.00000;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1811A>C;refseq.codonCoord=604;refseq.end=152876887;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2339;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.N604T;refseq.referenceAA=Asn;refseq.referenceCodon=AAC;refseq.spliceDist=8;refseq.spliceInfo=splice-acceptor_8;refseq.start=152876887;refseq.transcriptStrand=-;refseq.variantAA=Thr;refseq.variantCodon=ACC;set=FilteredInAll GT 1/0 chrX 152877251 . A G 0 BadSOAPSNP;FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;BestBaseQ=27;DP=167;Dels=0.00;HRun=3;HaplotypeScore=12.56;MQ=98.07;MQ0=0;OQ=98.62;QD=0.59;RankSumP=0.00000;SB=218.73;SecondBestBaseQ=15;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.1766T>C;refseq.codonCoord=589;refseq.end=152877251;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=2294;refseq.name=NM_005334;refseq.name2=HCFC1;refseq.positionType=CDS;refseq.proteinCoordStr=p.L589P;refseq.referenceAA=Leu;refseq.referenceCodon=CTC;refseq.spliceDist=-38;refseq.start=152877251;refseq.transcriptStrand=-;refseq.variantAA=Pro;refseq.variantCodon=CCC;set=FilteredInAll GT 0/1 chrX 152932023 . G A 56 PASS AC=2;AF=1.00;AN=2;BestBaseQ=17;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=10.63;MQ=96.46;MQ0=0;OQ=975.26;QD=19.90;RankSumP=1.00000;SB=-185.75;SecondBestBaseQ=8;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_2=c.1358C>T;refseq.codingCoordStr_3=c.1595C>T;refseq.codonCoord_2=453;refseq.codonCoord_3=532;refseq.end_1=152932676;refseq.end_2=152932023;refseq.end_3=152932023;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_2=1437;refseq.mrnaCoord_3=1674;refseq.name2_1=IRAK1;refseq.name2_2=IRAK1;refseq.name2_3=IRAK1;refseq.name_1=NM_001025242;refseq.name_2=NM_001025243;refseq.name_3=NM_001569;refseq.numMatchingRecords=3;refseq.positionType_1=intron;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_2=p.S453L;refseq.proteinCoordStr_3=p.S532L;refseq.referenceAA_2=Ser;refseq.referenceAA_3=Ser;refseq.referenceCodon_2=TCG;refseq.referenceCodon_3=TCG;refseq.spliceDist_2=56;refseq.spliceDist_3=56;refseq.start_1=152931999;refseq.start_2=152932023;refseq.start_3=152932023;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_2=Leu;refseq.variantAA_3=Leu;refseq.variantCodon_2=TTG;refseq.variantCodon_3=TTG;set=Intersection GT 1/1 chrX 152937386 . A G 212.80 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=99.00;MQ0=0;OQ=302.77;QD=33.64;RankSumP=1.00000;SB=-175.74;SecondBestBaseQ=0;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.changesAA_3=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.587T>C;refseq.codingCoordStr_2=c.587T>C;refseq.codingCoordStr_3=c.587T>C;refseq.codonCoord_1=196;refseq.codonCoord_2=196;refseq.codonCoord_3=196;refseq.end_1=152937386;refseq.end_2=152937386;refseq.end_3=152937386;refseq.frame_1=1;refseq.frame_2=1;refseq.frame_3=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.functionalClass_3=missense;refseq.haplotypeAlternate_1=G;refseq.haplotypeAlternate_2=G;refseq.haplotypeAlternate_3=G;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.haplotypeReference_3=A;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=666;refseq.mrnaCoord_2=666;refseq.mrnaCoord_3=666;refseq.name2_1=IRAK1;refseq.name2_2=IRAK1;refseq.name2_3=IRAK1;refseq.name_1=NM_001025242;refseq.name_2=NM_001025243;refseq.name_3=NM_001569;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.F196S;refseq.proteinCoordStr_2=p.F196S;refseq.proteinCoordStr_3=p.F196S;refseq.referenceAA_1=Phe;refseq.referenceAA_2=Phe;refseq.referenceAA_3=Phe;refseq.referenceCodon_1=TTT;refseq.referenceCodon_2=TTT;refseq.referenceCodon_3=TTT;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.start_1=152937386;refseq.start_2=152937386;refseq.start_3=152937386;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Ser;refseq.variantAA_2=Ser;refseq.variantAA_3=Ser;refseq.variantCodon_1=TCT;refseq.variantCodon_2=TCT;refseq.variantCodon_3=TCT;set=Intersection GT 1/1 chrX 152937677 . G A 78.77 PASS AC=2;AF=1.00;AN=2;BestBaseQ=27;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=98.58;MQ0=0;OQ=1224.34;QD=32.22;RankSumP=1.00000;SB=-369.00;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.codingCoordStr_1=c.483C>T;refseq.codingCoordStr_2=c.483C>T;refseq.codingCoordStr_3=c.483C>T;refseq.codonCoord_1=161;refseq.codonCoord_2=161;refseq.codonCoord_3=161;refseq.end_1=152937677;refseq.end_2=152937677;refseq.end_3=152937677;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.mrnaCoord_1=562;refseq.mrnaCoord_2=562;refseq.mrnaCoord_3=562;refseq.name2_1=IRAK1;refseq.name2_2=IRAK1;refseq.name2_3=IRAK1;refseq.name_1=NM_001025242;refseq.name_2=NM_001025243;refseq.name_3=NM_001569;refseq.numMatchingRecords=3;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.proteinCoordStr_1=p.V161V;refseq.proteinCoordStr_2=p.V161V;refseq.proteinCoordStr_3=p.V161V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceAA_3=Val;refseq.referenceCodon_1=GTC;refseq.referenceCodon_2=GTC;refseq.referenceCodon_3=GTC;refseq.spliceDist_1=47;refseq.spliceDist_2=47;refseq.spliceDist_3=47;refseq.start_1=152937677;refseq.start_2=152937677;refseq.start_3=152937677;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantAA_3=Val;refseq.variantCodon_1=GTT;refseq.variantCodon_2=GTT;refseq.variantCodon_3=GTT;set=Intersection GT 1/1 chrX 153071662 . G C 57 PASS AC=1;AF=0.50;AN=2;BestBaseQ=32;DB;DP=432;Dels=0.00;HRun=0;HaplotypeScore=9.91;MQ=47.24;MQ0=46;OQ=1901.95;QD=4.40;RankSumP=0.0984051;SB=-540.35;SecondBestBaseQ=29;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.465G>C;refseq.codonCoord=155;refseq.end=153071662;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=C;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=498;refseq.name=NM_020061;refseq.name2=OPN1LW;refseq.positionType=CDS;refseq.proteinCoordStr=p.V155V;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=56;refseq.start=153071662;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTC;set=Intersection GT 0/1 chrX 153071735 . T G 99 PASS AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=0.184875;SecondBestBaseQ=32;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.538T>G;refseq.codonCoord=180;refseq.end=153071735;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=571;refseq.name=NM_020061;refseq.name2=OPN1LW;refseq.positionType=CDS;refseq.proteinCoordStr=p.S180A;refseq.referenceAA=Ser;refseq.referenceCodon=TCT;refseq.spliceDist=-41;refseq.start=153071735;refseq.transcriptStrand=+;refseq.variantAA=Ala;refseq.variantCodon=GCT;set=soap GT 1/0 chrX 153073311 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=14;HRun=4;RankSumP=0.00000;SecondBestBaseQ=4;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.647T>G;refseq.codonCoord=216;refseq.end=153073311;refseq.frame=1;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=680;refseq.name=NM_020061;refseq.name2=OPN1LW;refseq.positionType=CDS;refseq.proteinCoordStr=p.V216G;refseq.referenceAA=Val;refseq.referenceCodon=GTG;refseq.spliceDist=69;refseq.start=153073311;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGG;set=FilteredInAll GT 1/0 chrX 153112308 . T C 11.45 ESPStandard;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=979;Dels=0.00;HRun=0;HaplotypeScore=44.70;MQ=0.96;MQ0=978;QD=0.01;SB=-10.00;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.960T>C;refseq.codingCoordStr_2=c.960T>C;refseq.codonCoord_1=320;refseq.codonCoord_2=320;refseq.end_1=153112308;refseq.end_2=153112308;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=1042;refseq.mrnaCoord_2=1042;refseq.name2_1=OPN1MW;refseq.name2_2=OPN1MW2;refseq.name_1=NM_000513;refseq.name_2=NM_001048181;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.V320V;refseq.proteinCoordStr_2=p.V320V;refseq.referenceAA_1=Val;refseq.referenceAA_2=Val;refseq.referenceCodon_1=GTT;refseq.referenceCodon_2=GTT;refseq.spliceDist_1=-25;refseq.spliceDist_2=-25;refseq.start_1=153112308;refseq.start_2=153112308;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Val;refseq.variantAA_2=Val;refseq.variantCodon_1=GTC;refseq.variantCodon_2=GTC;set=FilteredInAll GT:AD:DP:GL:GQ 0/1:978,1:1:-4.40,-0.30,-0.00:1.76 chrX 153233186 . G A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=24;HRun=2;RankSumP=4.39175e-08;SecondBestBaseQ=9;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.6980C>T;refseq.codingCoordStr_2=c.6956C>T;refseq.codonCoord_1=2327;refseq.codonCoord_2=2319;refseq.end_1=153233186;refseq.end_2=153233186;refseq.frame_1=1;refseq.frame_2=1;refseq.functionalClass_1=missense;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=7229;refseq.mrnaCoord_2=7205;refseq.name2_1=FLNA;refseq.name2_2=FLNA;refseq.name_1=NM_001110556;refseq.name_2=NM_001456;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.S2327F;refseq.proteinCoordStr_2=p.S2319F;refseq.referenceAA_1=Ser;refseq.referenceAA_2=Ser;refseq.referenceCodon_1=TCT;refseq.referenceCodon_2=TCT;refseq.spliceDist_1=-44;refseq.spliceDist_2=-44;refseq.start_1=153233186;refseq.start_2=153233186;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Phe;refseq.variantAA_2=Phe;refseq.variantCodon_1=TTT;refseq.variantCodon_2=TTT;set=FilteredInAll GT 1/0 chrX 153247868 . A C 25 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=2;RankSumP=2.14543e-09;SecondBestBaseQ=15;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1228+2;refseq.codingCoordStr_2=c.1228+2;refseq.end_1=153247868;refseq.end_2=153247868;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=FLNA;refseq.name2_2=FLNA;refseq.name_1=NM_001110556;refseq.name_2=NM_001456;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=153247868;refseq.start_2=153247868;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chrX 153261092 . G A 6 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=29;HRun=0;RankSumP=0.757482;SecondBestBaseQ=32;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.54G>A;refseq.codonCoord=18;refseq.end=153261092;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=A;refseq.haplotypeReference=G;refseq.inCodingRegion=true;refseq.mrnaCoord=302;refseq.name=NM_000117;refseq.name2=EMD;refseq.positionType=CDS;refseq.proteinCoordStr=p.R18R;refseq.referenceAA=Arg;refseq.referenceCodon=CGG;refseq.spliceDist=-29;refseq.start=153261092;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGA;set=FilteredInAll GT 1/0 chrX 153282349 . A G 118.10 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=176;Dels=0.00;HRun=0;HaplotypeScore=14.65;MQ=53.43;MQ0=114;OQ=2447.98;QD=13.91;RankSumP=1.00000;SB=-1089.12;SecondBestBaseQ=0;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_2=c.605A>G;refseq.codonCoord_2=202;refseq.end_1=153282349;refseq.end_2=153282349;refseq.frame_2=1;refseq.functionalClass_2=missense;refseq.haplotypeAlternate_1=*;refseq.haplotypeAlternate_2=G;refseq.haplotypeReference_1=*;refseq.haplotypeReference_2=A;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=630;refseq.mrnaCoord_2=793;refseq.name2_1=RPL10;refseq.name2_2=RPL10;refseq.name_1=NR_026898;refseq.name_2=NM_006013;refseq.numMatchingRecords=2;refseq.positionType_1=non_coding_exon;refseq.positionType_2=CDS;refseq.proteinCoordStr_2=p.N202S;refseq.referenceAA_2=Asn;refseq.referenceCodon_2=AAT;refseq.spliceDist_1=113;refseq.spliceDist_2=113;refseq.start_1=153282349;refseq.start_2=153282349;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_2=Ser;refseq.variantCodon_2=AGT;set=Intersection GT 1/1 chrX 153286553 . G C 272.50 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=98.39;MQ0=0;OQ=5115.09;QD=38.46;RankSumP=1.00000;SB=-1481.21;SecondBestBaseQ=2;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.201C>G;refseq.codingCoordStr_2=c.201C>G;refseq.codingCoordStr_3=c.201C>G;refseq.codingCoordStr_4=c.201C>G;refseq.codonCoord_1=67;refseq.codonCoord_2=67;refseq.codonCoord_3=67;refseq.codonCoord_4=67;refseq.end_1=153286553;refseq.end_2=153286553;refseq.end_3=153286553;refseq.end_4=153286553;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.haplotypeReference_3=G;refseq.haplotypeReference_4=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=831;refseq.mrnaCoord_2=573;refseq.mrnaCoord_3=488;refseq.mrnaCoord_4=970;refseq.name2_1=DNASE1L1;refseq.name2_2=DNASE1L1;refseq.name2_3=DNASE1L1;refseq.name2_4=DNASE1L1;refseq.name_1=NM_001009932;refseq.name_2=NM_001009933;refseq.name_3=NM_001009934;refseq.name_4=NM_006730;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.P67P;refseq.proteinCoordStr_2=p.P67P;refseq.proteinCoordStr_3=p.P67P;refseq.proteinCoordStr_4=p.P67P;refseq.referenceAA_1=Pro;refseq.referenceAA_2=Pro;refseq.referenceAA_3=Pro;refseq.referenceAA_4=Pro;refseq.referenceCodon_1=CCC;refseq.referenceCodon_2=CCC;refseq.referenceCodon_3=CCC;refseq.referenceCodon_4=CCC;refseq.spliceDist_1=-24;refseq.spliceDist_2=-24;refseq.spliceDist_3=-24;refseq.spliceDist_4=-24;refseq.start_1=153286553;refseq.start_2=153286553;refseq.start_3=153286553;refseq.start_4=153286553;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Pro;refseq.variantAA_2=Pro;refseq.variantAA_3=Pro;refseq.variantAA_4=Pro;refseq.variantCodon_1=CCG;refseq.variantCodon_2=CCG;refseq.variantCodon_3=CCG;refseq.variantCodon_4=CCG;set=Intersection GT 1/1 chrX 153310277 . A G 2 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=32;HRun=1;RankSumP=1.00000;SecondBestBaseQ=0;refseq.changesAA=false;refseq.chr=chrX;refseq.codingCoordStr=c.45A>G;refseq.codonCoord=15;refseq.end=153310277;refseq.frame=2;refseq.functionalClass=silent;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=106;refseq.name=NM_001183;refseq.name2=ATP6AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.R15R;refseq.referenceAA=Arg;refseq.referenceCodon=CGA;refseq.spliceDist=106;refseq.start=153310277;refseq.transcriptStrand=+;refseq.variantAA=Arg;refseq.variantCodon=CGG;set=FilteredInAll GT 1/1 chrX 153315804 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=28;HRun=1;RankSumP=0.00000;SecondBestBaseQ=11;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.741A>C;refseq.codonCoord=247;refseq.end=153315804;refseq.frame=2;refseq.functionalClass=missense;refseq.haplotypeAlternate=C;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=802;refseq.name=NM_001183;refseq.name2=ATP6AP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.K247N;refseq.referenceAA=Lys;refseq.referenceCodon=AAA;refseq.spliceDist=57;refseq.start=153315804;refseq.transcriptStrand=+;refseq.variantAA=Asn;refseq.variantCodon=AAC;set=FilteredInAll GT 0/1 chrX 153347274 . T G 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=32;HRun=2;RankSumP=1.32084e-07;SecondBestBaseQ=13;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.2422T>G;refseq.codonCoord=808;refseq.end=153347274;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=T;refseq.inCodingRegion=true;refseq.mrnaCoord=2595;refseq.name=NM_017514;refseq.name2=PLXNA3;refseq.positionType=CDS;refseq.proteinCoordStr=p.C808G;refseq.referenceAA=Cys;refseq.referenceCodon=TGC;refseq.spliceDist=81;refseq.start=153347274;refseq.transcriptStrand=+;refseq.variantAA=Gly;refseq.variantCodon=GGC;set=FilteredInAll GT 1/0 chrX 153413595 . A C 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=31;HRun=2;RankSumP=7.34218e-08;SecondBestBaseQ=13;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.1547+2;refseq.codingCoordStr_2=c.1457+2;refseq.end_1=153413595;refseq.end_2=153413595;refseq.haplotypeAlternate_1=C;refseq.haplotypeAlternate_2=C;refseq.haplotypeReference_1=A;refseq.haplotypeReference_2=A;refseq.inCodingRegion_1=false;refseq.inCodingRegion_2=false;refseq.name2_1=G6PD;refseq.name2_2=G6PD;refseq.name_1=NM_000402;refseq.name_2=NM_001042351;refseq.numMatchingRecords=2;refseq.positionType_1=intron;refseq.positionType_2=intron;refseq.spliceDist_1=2;refseq.spliceDist_2=2;refseq.spliceInfo_1=splice-donor_2;refseq.spliceInfo_2=splice-donor_2;refseq.start_1=153413595;refseq.start_2=153413595;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;set=FilteredInAll GT 0/1 chrX 153632455 . T A 0 BadSOAPSNP AC=1;AF=0.50;AN=2;BestBaseQ=9;HRun=2;RankSumP=0.650000;SecondBestBaseQ=2;refseq.changesAA_1=true;refseq.changesAA_2=true;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.40A>T;refseq.codingCoordStr_2=c.40A>T;refseq.codonCoord_1=14;refseq.codonCoord_2=14;refseq.end_1=153632455;refseq.end_2=153632455;refseq.frame_1=0;refseq.frame_2=0;refseq.functionalClass_1=nonsense;refseq.functionalClass_2=nonsense;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeReference_1=T;refseq.haplotypeReference_2=T;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=88;refseq.mrnaCoord_2=88;refseq.name2_1=GAB3;refseq.name2_2=GAB3;refseq.name_1=NM_001081573;refseq.name_2=NM_080612;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.K14*;refseq.proteinCoordStr_2=p.K14*;refseq.referenceAA_1=Lys;refseq.referenceAA_2=Lys;refseq.referenceCodon_1=AAG;refseq.referenceCodon_2=AAG;refseq.spliceDist_1=-33;refseq.spliceDist_2=-33;refseq.start_1=153632455;refseq.start_2=153632455;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.variantAA_1=Stop;refseq.variantAA_2=Stop;refseq.variantCodon_1=TAG;refseq.variantCodon_2=TAG;set=FilteredInAll GT 1/0 chrX 153647790 . G T 247.35 PASS AC=2;AF=1.00;AN=2;BestBaseQ=30;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=98.44;MQ0=0;OQ=5053.42;QD=34.14;RankSumP=1.00000;SB=-1471.08;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.codingCoordStr_1=c.369G>T;refseq.codingCoordStr_2=c.369G>T;refseq.codonCoord_1=123;refseq.codonCoord_2=123;refseq.end_1=153647790;refseq.end_2=153647790;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=T;refseq.haplotypeAlternate_2=T;refseq.haplotypeReference_1=G;refseq.haplotypeReference_2=G;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.mrnaCoord_1=579;refseq.mrnaCoord_2=579;refseq.name2_1=DKC1;refseq.name2_2=DKC1;refseq.name_1=NM_001142463;refseq.name_2=NM_001363;refseq.numMatchingRecords=2;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.proteinCoordStr_1=p.T123T;refseq.proteinCoordStr_2=p.T123T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.spliceDist_1=-80;refseq.spliceDist_2=-80;refseq.start_1=153647790;refseq.start_2=153647790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;set=Intersection GT 1/1 chrX 153673308 . C A 220.63 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=12.69;MQ=98.44;MQ0=0;OQ=11191.84;QD=39.69;RankSumP=1.00000;SB=-3557.91;SecondBestBaseQ=0;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.changesAA_3=false;refseq.changesAA_4=false;refseq.chr_1=chrX;refseq.chr_2=chrX;refseq.chr_3=chrX;refseq.chr_4=chrX;refseq.codingCoordStr_1=c.204G>T;refseq.codingCoordStr_2=c.255G>T;refseq.codingCoordStr_3=c.165G>T;refseq.codingCoordStr_4=c.255G>T;refseq.codonCoord_1=68;refseq.codonCoord_2=85;refseq.codonCoord_3=55;refseq.codonCoord_4=85;refseq.end_1=153673308;refseq.end_2=153673308;refseq.end_3=153673308;refseq.end_4=153673308;refseq.frame_1=2;refseq.frame_2=2;refseq.frame_3=2;refseq.frame_4=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.functionalClass_3=silent;refseq.functionalClass_4=silent;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=A;refseq.haplotypeAlternate_4=A;refseq.haplotypeReference_1=C;refseq.haplotypeReference_2=C;refseq.haplotypeReference_3=C;refseq.haplotypeReference_4=C;refseq.inCodingRegion_1=true;refseq.inCodingRegion_2=true;refseq.inCodingRegion_3=true;refseq.inCodingRegion_4=true;refseq.mrnaCoord_1=358;refseq.mrnaCoord_2=409;refseq.mrnaCoord_3=558;refseq.mrnaCoord_4=409;refseq.name2_1=MPP1;refseq.name2_2=MPP1;refseq.name2_3=MPP1;refseq.name2_4=MPP1;refseq.name_1=NM_001166460;refseq.name_2=NM_001166461;refseq.name_3=NM_001166462;refseq.name_4=NM_002436;refseq.numMatchingRecords=4;refseq.positionType_1=CDS;refseq.positionType_2=CDS;refseq.positionType_3=CDS;refseq.positionType_4=CDS;refseq.proteinCoordStr_1=p.T68T;refseq.proteinCoordStr_2=p.T85T;refseq.proteinCoordStr_3=p.T55T;refseq.proteinCoordStr_4=p.T85T;refseq.referenceAA_1=Thr;refseq.referenceAA_2=Thr;refseq.referenceAA_3=Thr;refseq.referenceAA_4=Thr;refseq.referenceCodon_1=ACG;refseq.referenceCodon_2=ACG;refseq.referenceCodon_3=ACG;refseq.referenceCodon_4=ACG;refseq.spliceDist_1=9;refseq.spliceDist_2=9;refseq.spliceDist_3=9;refseq.spliceDist_4=9;refseq.spliceInfo_1=splice-acceptor_9;refseq.spliceInfo_2=splice-acceptor_9;refseq.spliceInfo_3=splice-acceptor_9;refseq.spliceInfo_4=splice-acceptor_9;refseq.start_1=153673308;refseq.start_2=153673308;refseq.start_3=153673308;refseq.start_4=153673308;refseq.transcriptStrand_1=-;refseq.transcriptStrand_2=-;refseq.transcriptStrand_3=-;refseq.transcriptStrand_4=-;refseq.variantAA_1=Thr;refseq.variantAA_2=Thr;refseq.variantAA_3=Thr;refseq.variantAA_4=Thr;refseq.variantCodon_1=ACT;refseq.variantCodon_2=ACT;refseq.variantCodon_3=ACT;refseq.variantCodon_4=ACT;set=Intersection GT 1/1 chrX 154109941 . A G 280.88 PASS AC=2;AF=1.00;AN=2;BestBaseQ=32;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=9.64;MQ=98.18;MQ0=0;OQ=11356.07;QD=39.29;RankSumP=1.00000;SB=-3541.84;SecondBestBaseQ=0;refseq.changesAA=true;refseq.chr=chrX;refseq.codingCoordStr=c.367A>G;refseq.codonCoord=123;refseq.end=154109941;refseq.frame=0;refseq.functionalClass=missense;refseq.haplotypeAlternate=G;refseq.haplotypeReference=A;refseq.inCodingRegion=true;refseq.mrnaCoord=426;refseq.name=NM_003372;refseq.name2=VBP1;refseq.positionType=CDS;refseq.proteinCoordStr=p.M123V;refseq.referenceAA=Met;refseq.referenceCodon=ATG;refseq.spliceDist=-18;refseq.start=154109941;refseq.transcriptStrand=+;refseq.variantAA=Val;refseq.variantCodon=GTG;set=Intersection GT 1/1 chrY 7284185 . A G 14 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=28;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chrY;refseq.end=7284185;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1070;refseq.name=NR_028062;refseq.name2=PRKY;refseq.positionType=non_coding_exon;refseq.spliceDist=10;refseq.spliceInfo=splice-acceptor_10;refseq.start=7284185;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chrY 7284237 . C A 11 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=3;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chrY;refseq.end=7284237;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1122;refseq.name=NR_028062;refseq.name2=PRKY;refseq.positionType=non_coding_exon;refseq.spliceDist=-35;refseq.start=7284237;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1 chrY 7284240 . T G 8 BadSOAPSNP AC=2;AF=1.00;AN=2;BestBaseQ=33;HRun=0;RankSumP=1.00000;SecondBestBaseQ=0;refseq.chr=chrY;refseq.end=7284240;refseq.haplotypeAlternate=*;refseq.haplotypeReference=*;refseq.mrnaCoord=1125;refseq.name=NR_028062;refseq.name2=PRKY;refseq.positionType=non_coding_exon;refseq.spliceDist=-32;refseq.start=7284240;refseq.transcriptStrand=+;set=FilteredInAll GT 1/1